### LOVD-version 2000-380 ### Variants/Patients ### Do not remove this line, unless importing in versions before 2.0-04 ###
"{{ Variant/DBID }}"	"{{ Variant/Exon }}"	"{{ Variant/DNA }}"	"{{ Variant/RNA }}"	"{{ Variant/Protein }}"	"{{ Variant/Variant_original_description }}"	"{{ Variant/Links }}"	"{{ Variant/Remarks }}"	"{{ Variant/Predicted_Mutation_Effect }}"	"{{ Variant/Reference }}"	"{{ Variant/mutation_HOT_SPOT }}"	"{{ Variant/Allele_code }}"	"{{ Variant/Type }}"	"{{ Variant/Restriction_site }}"	"{{ Variant/Frequency }}"	"{{ Variant/Detection/Template }}"	"{{ Variant/Detection/Technique }}"	"{{ Variant/Location }}"	"{{ Patient/Patient_ID }}"	"{{ Patient/Phenotype/Disease }}"	"{{ Patient/Reference }}"	"{{ Patient/Remarks }}"	"{{ Patient/Times_Reported }}"	"{{ Patient/Origin/Geographic }}"	"{{ Patient/Affected_per_Family }}"	"{{ Patient/Families_Patients }}"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_12b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_12"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Compound heterozygous"	"1"	"Spain"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{AKU database}"	""	"AKU_DB_13b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_13"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_17b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_17"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Compound heterozygous"	"1"	"France/Italy"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{AKU database}"	""	"AKU_DB_21b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_21"	"AKU"	"{PMID10205262: de Bernabe et al. (1999a)}"	"Compound heterozygous"	"1"	"Spain"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{AKU database}"	""	"AKU_DB_26a"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_26"	"AKU"	"{AKU database}"	"?"	"1"	"Spain"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{AKU database}"	""	"AKU_DB_26b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_26"	"AKU"	"{AKU database}"	"?"	"1"	"Spain"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{AKU database}"	""	"AKU_DB_32a"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_32"	"AKU"	"{AKU database}"	"?"	"1"	"France"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{AKU database}"	""	"AKU_DB_32b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_32"	"AKU"	"{AKU database}"	"?"	"1"	"France"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{AKU database}"	""	"AKU_DB_42b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_42"	"AKU"	"{PMID16085442: Ladjouze-Rezig et al. (2006)}"	"Compound heterozygous"	"1"	"Algeria"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{AKU database}"	""	"AKU_DB_82b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_82"	"AKU"	"{AKU database}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID11001939: Rodriguez et al. (2000)}"	""	"AKU_DB_83b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_83"	"AKU"	"{PMID11001939: Rodriguez et al. (2000)}"	"Compound heterozygous"	"1"	"Algeria"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID14978662:  Mannoni et al. (2004)}"	""	"AKU_MAN_3a"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_MAN_3"	"AKU"	"{PMID14978662:  Mannoni et al. (2004)}"	"?"	"1"	"Italy"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID14978662:  Mannoni et al. (2004)}"	""	"AKU_MAN_3b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_MAN_3"	"AKU"	"{PMID14978662:  Mannoni et al. (2004)}"	"?"	"1"	"Italy"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID14978662:  Mannoni et al. (2004)}"	""	"AKU_MAN_4a"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_MAN_4"	"AKU"	"{PMID14978662:  Mannoni et al. (2004)}"	"?"	"1"	"Italy"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID14978662:  Mannoni et al. (2004)}"	""	"AKU_MAN_4b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_MAN_4"	"AKU"	"{PMID14978662:  Mannoni et al. (2004)}"	"?"	"1"	"Italy"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_MUL_6b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_MUL_6"	"AKU"	"{PMID10482952: Muller et al. (1999)}"	"Compound heterozygous"	"1"	"Czech republic"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_40b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_VIL_40"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_41b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_VIL_41"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_52b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_VIL_52"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_69b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_VIL_69"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_91b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_VIL_91"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"Aquaron et al. 2009"	""	"AKU_AQR_11a"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_AQR_11"	"AKU"	"Aquaron et al. (2009)"	"?"	"1"	"France"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"Aquaron et al. 2009"	""	"AKU_AQR_11b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_AQR_11"	"AKU"	"Aquaron et al. (2009)"	"?"	"1"	"France"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"Aquaron et al. 2009"	""	"AKU_AQR_19b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_AQR_19"	"AKU"	"Aquaron et al. (2009)"	"Compound heterozygous"	"1"	"Switzerland/Belgium"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_132b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_132"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_145b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_145"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Jordan"	"2"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID24575791: Sakthivel et al. (2014)}"	""	"AKU_DB_157b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_157"	"AKU"	"{PMID24575791: Sakthivel et al. (2014)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID24575791: Sakthivel et al. (2014)}"	""	"AKU_DB_158b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_158"	"AKU"	"{PMID24575791: Sakthivel et al. (2014)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_172a"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_172"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"?"	"1"	"Italy"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_172b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_172"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"?"	"1"	"Italy"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_177a"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_177"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"?"	"1"	"Italy"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_177b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_177"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"?"	"1"	"Italy"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID25681086: Usher et al. (2015)}"	""	"AKU_DB_223a"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_223"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_145b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_145"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"?"	"1"	"Jordan"	"2"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_145c"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_145"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"?"	"1"	"Jordan"	"2"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_198a"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_198"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"?"	"1"	"Germany"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_198b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_198"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"?"	"1"	"Germany"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_407b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_407"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_409b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_409"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_410b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_410"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_411b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_411"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_412b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_412"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_413b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_413"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_414b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_414"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_415b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_415"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_416b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_416"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_417b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_417"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_418b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_418"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00000"	"00"	"c.(?)"	"r.(?)"	"p.(?)"	"unknown"	""	"unknown"	""	"{PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_419b"	"unknown"	""	""	"DNA"	"SEQ"	"unknown"	"AKU_DB_419"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00200"	"01-04"	"c.1-8460_282+6727del"	"r.(?)"	"p.(?)"	"ex1,2,3,4 del"	""	"deletion"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR3_0122b"	"deletion"	""	""	"DNA"	"SEQ, MLPA"	"multiple exons"	"AKU_TR3_0122"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Germany/Peru"	"1"	"1"
"AKU_00235"	"01"	"c.1A>G"	"r.(?)"	"p.(Met1Val)?"	"M1V"	"{SNPIDrs1708240463: rs1708240463}"	"missense"	"Activation of downstream start-codon/frameshift"	"{PMID34504318: Soltysova et al. (2021)}, {PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_336b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_336"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00001"	"01"	"c.8A>C"	"r.(?)"	"p.(Glu3Ala)"	"E3A"	"{SNPIDrs200412910: rs200412910}"	"missense"	"unknown"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_93a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_93"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00003"	"01"	"c.11T>A"	"r.(?)"	"p.(Leu4*)"	"L4*"	"{SNPIDrs786204422: rs786204422}"	"nonsense"	""	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_VIL_29a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_29"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00002"	"01"	"c.11T>C"	"r.(?)"	"p.(Leu4Ser)"	"L4S"	""	"missense"	"Protomer destabilisation"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_VIL_30a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_30"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00002"	"01"	"c.11T>C"	"r.(?)"	"p.(Leu4Ser)"	"L4S"	""	"missense"	"Protomer destabilisation"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_VIL_32a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_32"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00266"	"01"	"c.15G>A "	"r.(?)"	"p.(Lys5Lys)"	"K5K"	""	"silent/aberrant splicing"	""	"{PMID35550814: Tao et al. (2022)}"	""	"AKU_DB_434a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_434"	"AKU"	"{PMID35550814: Tao et al. (2022)}"	"Homozygot"	"1"	"China"	"2"	"1"
"AKU_00266"	"01"	"c.15G>A "	"r.(?)"	"p.(Lys5Lys)"	"K5K"	""	"silent/aberrant splicing"	""	"{PMID35550814: Tao et al. (2022)}"	""	"AKU_DB_434b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_434"	"AKU"	"{PMID35550814: Tao et al. (2022)}"	"Homozygot"	"1"	"China"	"2"	"1"
"AKU_00248"	"01i"	"c.16-2063A>C"	"r.(?)"	"p.(Tyr5_Ile6insVal*17)"	"in1 pseudoexon"	""	"aberrant splicing (AS), pseudogene inclusion"	""	"{PMID34686677: Lee et al. (2022)}"	""	"AKU_DB_421b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_421"	"AKU"	"{PMID34686677: Lee et al. (2022)}"	"Compound heterozygous"	"1"	"Taiwan"	"1"	"1"
"AKU_00248"	"01i"	"c.16-2063A>C"	"r.(?)"	"p.(Tyr5_Ile6insVal*17)"	"in1 pseudoexon"	"?"	"aberrant splicing, pseudogene inclusion"	""	"{PMID34686677: Lee et al. (2022)}"	""	"AKU_DB_424a"	"substitution"	"?"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_424"	"AKU"	"{PMID34686677: Lee et al. (2022)}"	"Compound heterozygous"	"1"	"Taiwan"	"1"	"1"
"AKU_00126"	"01i"	"c.16-175C>G"	"r.(?)"	"p.(?)"	"ivs1-175C>G"	"{SNPIDrs17140398: rs17140398}"	"polymorphism"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_POL_20"	"substitution"	""	"0,234(G)"	"DNA"	"SEQ"	"intron"	"AKU_POL_20"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"1"	""	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_22a"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_22"	"AKU"	"{PMID10205262: de Bernabe et al. (1999a)}"	"Compound heterozygous"	"1"	"Poland"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_43a"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_43"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Homozygot"	"1"	"Algeria"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_43b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_43"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Homozygot"	"1"	"Algeria"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_53c"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_53"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"7"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_54a"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_54"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_71a"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_71"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_MUL_4b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_MUL_4"	"AKU"	"{PMID10482952: Muller et al. (1999)}"	"Compound heterozygous"	"1"	"Czech republic"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_MUL_5a"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_MUL_5"	"AKU"	"{PMID10482952: Muller et al. (1999)}"	"Compound heterozygous"	"1"	"Czech republic"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_SRS_13b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_SRS_13"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_SRS_3b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_SRS_3"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_VIL_57a"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_VIL_57"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_VIL_94a"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_VIL_94"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_140b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_140"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"Jordan"	"2"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_146a"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_146"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Slovakia"	"2"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_146b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_146"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Slovakia"	"2"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_205a"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_205"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_TR2_0262b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_TR2_0262"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Poland"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_234a"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_234"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_234b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_234"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_TR2_0119b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_TR2_0119"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_TR2_0119a"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_TR2_0119"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_TR2_0129b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_TR2_0129"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Romania"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_TR2_0129a"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_TR2_0129"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Romania"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_TR2_0110b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_TR2_0110"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Poland"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_TR2_0114b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_TR2_0114"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Serbia"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_TR2_0253a"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_TR2_0253"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Jordan"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_TR2_0253a"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_TR2_0253"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Jordan"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_TR2_0258b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_TR2_0258"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Poland"	"2"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_TR2_0261b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_TR2_0261"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_TR2_0254a"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_TR2_0254"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Jordan"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_TR2_0254a"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_TR2_0254"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Jordan"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_284a"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_284"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_284b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_284"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_287a"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_287"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"3"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_287b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_287"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"3"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_288a"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_288"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_289a"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_289"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_292b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_292"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_306b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_306"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_309a"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_309"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_309b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_309"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_311b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_311"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_319b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_319"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_323b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_323"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_327a"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_327"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_327b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_327"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_329a"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_329"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"2"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_429b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_429"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00004"	"01i"	"c.16-1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs1-1G>A"	"{SNPIDrs397515347: rs397515347}"	"aberrant splicing (AS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	""	"AKU_DB_431b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_431"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00164"	"02"	"c.16-272_87+305del"	"r.(?)"	"p.(Tyr6_Gln29del)"	"ex2 del"	"{SNPIDrs1553721650: rs1553721650}"	"deletion"	""	"{PMID25233259: Habbal et al. (2014)}"	""	"AKU_DB_152a"	"deletion"	""	""	"DNA"	"SEQ, MLPA"	"intron/exon"	"AKU_DB_152"	"AKU"	"{PMID25233259: Habbal et al. (2014)}"	"Homozygot"	"1"	"Lebanon"	"1"	"1"
"AKU_00164"	"02"	"c.16-272_87+305del"	"r.(?)"	"p.(Tyr6_Gln29del)"	"ex2 del"	"{SNPIDrs1553721650: rs1553721650}"	"deletion"	""	"{PMID25233259: Habbal et al. (2014)}"	""	"AKU_DB_152b"	"deletion"	""	""	"DNA"	"SEQ, MLPA"	"intron/exon"	"AKU_DB_152"	"AKU"	"{PMID25233259: Habbal et al. (2014)}"	"Homozygot"	"1"	"Lebanon"	"1"	"1"
"AKU_00164"	"02"	"c.16-272_87+305del"	"r.(?)"	"p.(Tyr6_Gln29del)"	"ex2 del"	"{SNPIDrs1553721650: rs1553721650}"	"deletion"	""	"{PMID25233259: Habbal et al. (2014)}"	""	"AKU_DB_160a"	"deletion"	""	""	"DNA"	"SEQ, MLPA"	"intron/exon"	"AKU_DB_160"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Israel"	"2"	"1"
"AKU_00164"	"02"	"c.16-272_87+305del"	"r.(?)"	"p.(Tyr6_Gln29del)"	"ex2 del"	"{SNPIDrs1553721650: rs1553721650}"	"deletion"	""	"{PMID25233259: Habbal et al. (2014)}"	""	"AKU_DB_160b"	"deletion"	""	""	"DNA"	"SEQ, MLPA"	"intron/exon"	"AKU_DB_160"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Israel"	"2"	"1"
"AKU_00164"	"02"	"c.16-272_87+305del"	"r.(?)"	"p.(Tyr6_Gln29del)"	"ex2 del"	"{SNPIDrs1553721650: rs1553721650}"	"deletion"	""	"{PMID25233259: Habbal et al. (2014)}"	""	"AKU_DB_232a"	"deletion"	""	""	"DNA"	"SEQ, MLPA"	"intron/exon"	"AKU_DB_232"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Israel"	"1"	"1"
"AKU_00164"	"02"	"c.16-272_87+305del"	"r.(?)"	"p.(Tyr6_Gln29del)"	"ex2 del"	"{SNPIDrs1553721650: rs1553721650}"	"deletion"	""	"{PMID25233259: Habbal et al. (2014)}"	""	"AKU_DB_232b"	"deletion"	""	""	"DNA"	"SEQ, MLPA"	"intron/exon"	"AKU_DB_232"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Israel"	"1"	"1"
"AKU_00164"	"02"	"c.16-272_87+305del"	"r.(?)"	"p.(Tyr6_Gln29del)"	"ex2 del"	"{SNPIDrs1553721650: rs1553721650}"	"deletion"	""	"{PMID25233259: Habbal et al. (2014)}"	""	"AKU_DB_240a"	"deletion"	""	""	"DNA"	"SEQ, MLPA"	"intron/exon"	"AKU_DB_240"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00164"	"02"	"c.16-272_87+305del"	"r.(?)"	"p.(Tyr6_Gln29del)"	"ex2 del"	"{SNPIDrs1553721650: rs1553721650}"	"deletion"	""	"{PMID25233259: Habbal et al. (2014)}"	""	"AKU_DB_240b"	"deletion"	""	""	"DNA"	"SEQ, MLPA"	"intron/exon"	"AKU_DB_240"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00164"	"02"	"c.16-272_87+305del"	"r.(?)"	"p.(Tyr6_Gln29del)"	"ex2 del"	"{SNPIDrs1553721650: rs1553721650}"	"deletion"	""	"{PMID25233259: Habbal et al. (2014)}"	""	"AKU_TR2_0255a"	"deletion"	""	""	"DNA"	"SEQ, MLPA"	"intron/exon"	"AKU_TR2_0255"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Jordan"	"2"	"1"
"AKU_00164"	"02"	"c.16-272_87+305del"	"r.(?)"	"p.(Tyr6_Gln29del)"	"ex2 del"	"{SNPIDrs1553721650: rs1553721650}"	"deletion"	""	"{PMID25233259: Habbal et al. (2014)}"	""	"AKU_TR2_0255b"	"deletion"	""	""	"DNA"	"SEQ, MLPA"	"intron/exon"	"AKU_TR2_0255"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Jordan"	"2"	"1"
"AKU_00005"	"02"	"c.31_32delGGinsATT"	"r.(?)"	"p.(Gly11Ilefs*3)"	"G11fs (F10fs)"	"{SNPIDrs1057516362: rs1057516362}"	"frameshift"	""	"{PMID9529363: de Bernabe et al. (1998)}"	"CCC triplet"	"AKU_DB_17a"	"deletion/insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_17"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Compound heterozygous"	"1"	"France/Italy"	"1"	"1"
"AKU_00005"	"02"	"c.31_32delGGinsATT"	"r.(?)"	"p.(Gly11Ilefs*3)"	"G11fs (F10fs)"	"{SNPIDrs1057516362: rs1057516362}"	"frameshift"	""	"{PMID9529363: de Bernabe et al. (1998)}"	"CCC triplet"	"AKU_DB_143a"	"deletion/insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_143"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00005"	"02"	"c.31_32delGGinsATT"	"r.(?)"	"p.(Gly11Ilefs*3)"	"G11fs (F10fs)"	"{SNPIDrs1057516362: rs1057516362}"	"frameshift"	""	"{PMID9529363: de Bernabe et al. (1998)}"	"CCC triplet"	"AKU_DB_143b"	"deletion/insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_143"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00005"	"02"	"c.31_32delGGinsATT"	"r.(?)"	"p.(Gly11Ilefs*3)"	"G11fs (F10fs)"	"{SNPIDrs1057516362: rs1057516362}"	"frameshift"	""	"{PMID9529363: de Bernabe et al. (1998)}"	"CCC triplet"	"AKU_DB_440b"	"deletion/insertion"	""	""	"DNA"	"SEQ, MLPA"	"exon"	"AKU_DB_440"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00167"	"02"	"c.37G>A"	"r.(?)"	"p.(Glu13Lys)"	"E13K"	""	"missense"	"Hexamer disruption"	"{PMID25681086: Usher et al. (2015)}"	""	"AKU_DB_220a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_220"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00167"	"02"	"c.37G>A"	"r.(?)"	"p.(Glu13Lys)"	"E13K"	""	"missense"	"Hexamer disruption"	"{PMID25681086: Usher et al. (2015)}"	""	"AKU_DB_246b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_246"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00168"	"02"	"c.52G>A"	"r.(?)"	"p.(Asp18Asn)"	"D18N"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID25681086: Usher et al. (2015)}"	""	"AKU_DB_217a"	"substitution"	"(+)HinfI,TfiI;(-)BamHI,BfuCI,BstYI,DpnI,DpnII,MboI,Sau3AI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_217"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00168"	"02"	"c.52G>A"	"r.(?)"	"p.(Asp18Asn)"	"D18N"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID25681086: Usher et al. (2015)}"	""	"AKU_TR2_0123a"	"substitution"	"(+)HinfI,TfiI;(-)BamHI,BfuCI,BstYI,DpnI,DpnII,MboI,Sau3AI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0123"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Wales"	"1"	"1"
"AKU_00194"	"02"	"c.52G>T"	"r.(?)"	"p.(Asp18Tyr)"	"D18Y"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_231a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_231"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00265"	"02"	"c.54T>A"	"r.(?)"	"p.(Asp18Glu)"	"D18E"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR2_0102b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0102"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Romania"	"1"	"1"
"AKU_00006"	"02"	"c.74T>C"	"r.(?)"	"p.(Leu25Pro)"	"L25P"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10340975: Felbor et al. (1999)}"	"CCC triplet"	"AKU_FEL_1a"	"substitution"	"(+)FauI, AciI "	""	"DNA"	"SEQ"	"exon"	"AKU_FEL_1"	"AKU"	"{PMID10340975: Felbor et al. (1999)}"	"Homozygot"	"1"	"Germany"	"1"	"1"
"AKU_00006"	"02"	"c.74T>C"	"r.(?)"	"p.(Leu25Pro)"	"L25P"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10340975: Felbor et al. (1999)}"	"CCC triplet"	"AKU_FEL_1b"	"substitution"	"(+)FauI, AciI "	""	"DNA"	"SEQ"	"exon"	"AKU_FEL_1"	"AKU"	"{PMID10340975: Felbor et al. (1999)}"	"Homozygot"	"1"	"Germany"	"1"	"1"
"AKU_00006"	"02"	"c.74T>C"	"r.(?)"	"p.(Leu25Pro)"	"L25P"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10340975: Felbor et al. (1999)}"	"CCC triplet"	"AKU_GEH_1a"	"substitution"	"(+)FauI, AciI "	""	"DNA"	"SEQ"	"exon"	"AKU_GEH_1"	"AKU"	"{PMID10482952: Muller et al. (1999)}"	"Homozygot"	"1"	"Germany"	"1"	"1"
"AKU_00006"	"02"	"c.74T>C"	"r.(?)"	"p.(Leu25Pro)"	"L25P"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10340975: Felbor et al. (1999)}"	"CCC triplet"	"AKU_GEH_1b"	"substitution"	"(+)FauI, AciI "	""	"DNA"	"SEQ"	"exon"	"AKU_GEH_1"	"AKU"	"{PMID10482952: Muller et al. (1999)}"	"Homozygot"	"1"	"Germany"	"1"	"1"
"AKU_00006"	"02"	"c.74T>C"	"r.(?)"	"p.(Leu25Pro)"	"L25P"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10340975: Felbor et al. (1999)}"	"CCC triplet"	"AKU_DB_341a"	"substitution"	"(+)FauI, AciI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_341"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"2"	"1"
"AKU_00006"	"02"	"c.74T>C"	"r.(?)"	"p.(Leu25Pro)"	"L25P"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10340975: Felbor et al. (1999)}"	"CCC triplet"	"AKU_DB_341b"	"substitution"	"(+)FauI, AciI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_341"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"2"	"1"
"AKU_00182"	"02"	"c.85delC"	"r.(?)"	"p.(Gln29Argfs*82)"	"Q29fs"	""	"frameshift"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR2_0301a"	"deletion"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0301"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Algeria"	"4"	"1"
"AKU_00182"	"02"	"c.85delC"	"r.(?)"	"p.(Gln29Argfs*82)"	"Q29fs"	""	"frameshift"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR2_0301b"	"deletion"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0301"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Algeria"	"4"	"1"
"AKU_00150"	"02i"	"c.87+1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs2+1G>A"	""	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID24575791: Sakthivel et al. (2014)}"	""	"AKU_DB_153a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_153"	"AKU"	"{PMID24575791: Sakthivel et al. (2014)}"	"Homozygot"	"1"	"India"	"4"	"1"
"AKU_00150"	"02i"	"c.87+1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs2+1G>A"	""	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID24575791: Sakthivel et al. (2014)}"	""	"AKU_DB_153b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_153"	"AKU"	"{PMID24575791: Sakthivel et al. (2014)}"	"Homozygot"	"1"	"India"	"4"	"1"
"AKU_00150"	"02i"	"c.87+1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs2+1G>A"	""	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID24575791: Sakthivel et al. (2014)}"	""	"AKU_DB_154a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_154"	"AKU"	"{PMID24575791: Sakthivel et al. (2014)}"	"Homozygot"	"1"	"India"	"2"	"1"
"AKU_00150"	"02i"	"c.87+1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs2+1G>A"	""	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID24575791: Sakthivel et al. (2014)}"	""	"AKU_DB_154b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_154"	"AKU"	"{PMID24575791: Sakthivel et al. (2014)}"	"Homozygot"	"1"	"India"	"2"	"1"
"AKU_00150"	"02i"	"c.87+1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs2+1G>A"	""	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID24575791: Sakthivel et al. (2014)}"	""	"AKU_DB_155a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_155"	"AKU"	"{PMID24575791: Sakthivel et al. (2014)}"	"Homozygot"	"1"	"India"	"2"	"1"
"AKU_00150"	"02i"	"c.87+1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs2+1G>A"	""	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID24575791: Sakthivel et al. (2014)}"	""	"AKU_DB_155b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_155"	"AKU"	"{PMID24575791: Sakthivel et al. (2014)}"	"Homozygot"	"1"	"India"	"2"	"1"
"AKU_00150"	"02i"	"c.87+1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs2+1G>A"	""	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID24575791: Sakthivel et al. (2014)}"	""	"AKU_DB_156a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_156"	"AKU"	"{PMID24575791: Sakthivel et al. (2014)}"	"Homozygot"	"1"	"India"	"2"	"1"
"AKU_00150"	"02i"	"c.87+1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs2+1G>A"	""	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID24575791: Sakthivel et al. (2014)}"	""	"AKU_DB_156b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_156"	"AKU"	"{PMID24575791: Sakthivel et al. (2014)}"	"Homozygot"	"1"	"India"	"2"	"1"
"AKU_00150"	"02i"	"c.87+1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs2+1G>A"	""	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID24575791: Sakthivel et al. (2014)}"	""	"AKU_DB_157a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_157"	"AKU"	"{PMID24575791: Sakthivel et al. (2014)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00150"	"02i"	"c.87+1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs2+1G>A"	""	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID24575791: Sakthivel et al. (2014)}"	""	"AKU_DB_158a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_158"	"AKU"	"{PMID24575791: Sakthivel et al. (2014)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00150"	"02i"	"c.87+1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs2+1G>A"	""	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID24575791: Sakthivel et al. (2014)}"	""	"AKU_DB_159a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_159"	"AKU"	"{PMID24575791: Sakthivel et al. (2014)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00150"	"02i"	"c.87+1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs2+1G>A"	""	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID24575791: Sakthivel et al. (2014)}"	""	"AKU_DB_159b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_159"	"AKU"	"{PMID24575791: Sakthivel et al. (2014)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00150"	"02i"	"c.87+1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs2+1G>A"	""	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID24575791: Sakthivel et al. (2014)}"	""	"AKU_DB_184a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_184"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"India"	"5"	"1"
"AKU_00150"	"02i"	"c.87+1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs2+1G>A"	""	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID24575791: Sakthivel et al. (2014)}"	""	"AKU_DB_184b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_184"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"India"	"5"	"1"
"AKU_00150"	"02i"	"c.87+1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs2+1G>A"	""	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID24575791: Sakthivel et al. (2014)}"	""	"AKU_DB_185a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_185"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"India"	"5"	"1"
"AKU_00150"	"02i"	"c.87+1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs2+1G>A"	""	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID24575791: Sakthivel et al. (2014)}"	""	"AKU_DB_185b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_185"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"India"	"5"	"1"
"AKU_00150"	"02i"	"c.87+1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs2+1G>A"	""	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID24575791: Sakthivel et al. (2014)}"	""	"AKU_DB_406a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_406"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00150"	"02i"	"c.87+1G>A"	"r.(spl?)"	"p.(Tyr6_Gln29del)"	"ivs2+1G>A"	""	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID24575791: Sakthivel et al. (2014)}"	""	"AKU_DB_406b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_406"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00176"	"02i"	"c.87+8_88-31del"	"r.(?)"	"p.(?)"	"in2 del"	""	"deletion"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR2_0247a"	"deletion"	""	""	"DNA"	"SEQ"	"intron"	"AKU_TR2_0247"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Jordan"	"1"	"1"
"AKU_00176"	"02i"	"c.87+8_88-31del"	"r.(?)"	"p.(?)"	"in2 del"	""	"deletion"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR2_0247b"	"deletion"	""	""	"DNA"	"SEQ"	"intron"	"AKU_TR2_0247"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Jordan"	"1"	"1"
"AKU_00107"	"02i"	"c.87+35A>T"	"r.(?)"	"p.(?)"	"ivs2+35A>T"	"{SNPIDrs2733825: rs2733825}"	"polymorphism"	""	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_POL_1"	"substitution"	""	"0,12(T)"	"DNA"	"SEQ"	"intron"	"AKU_POL_1"	""	"{PMID9529363: de Bernabe et al. (1998)}"	""	"1"	""	"1"	"1"
"AKU_00127"	"02i"	"c.87+118A>G"	"r.(?)"	"p.(?)"	"ivs2+118A>G"	"{SNPIDrs17140396: rs17140396}"	"polymorphism"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_POL_21"	"substitution"	""	"0,076(G)"	"DNA"	"SEQ"	"intron"	"AKU_POL_21"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"1"	""	"1"	"1"
"AKU_00108"	"02i"	"c.88-218A>T"	"r.(?)"	"p.(?)"	"ivs2-218A>T"	""	"polymorphism"	""	"{PMID9244427: Granadino et al. (1997)}"	""	"AKU_POL_2"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_POL_2"	""	"{PMID9244427: Granadino et al. (1997)}"	""	"1"	""	"1"	"1"
"AKU_00014"	"03"	"c.(?)"	"r.(?)"	"p.(Ser59*)"	"S59*"	""	"nonsense"	""	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_PHO_3"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_PHO_3"	"AKU"	"{PMID12501223: Phornphutkul et al. (2002)}"	"?"	"1"	"USA"	"1"	"1"
"AKU_00007"	"03"	"c.98A>G"	"r.(?)"	"p.(Gln33Arg)"	"Q33R"	""	"missense"	"Hexamer disruption"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_100a"	"substitution"	"(+)BsoBI, AvaI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_100"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"South Korea"	"1"	"1"
"AKU_00160"	"03"	"c.119A>C"	"r.(?)"	"p.(Tyr40Ser)"	"Y40S"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_192a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_192"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00160"	"03"	"c.119A>C"	"r.(?)"	"p.(Tyr40Ser)"	"Y40S"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_192b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_192"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00165"	"03"	"c.124delG (not c.115delG)"	"r.(?)"	" p.(Glu42Serfs*69) "	"E42fs (before c.115delG (L39fs; p.(Leu39Ser*72))"	""	"frameshift"	""	"{PMID25153563: Li et al. (2014)}"	""	"AKU_DB_201a"	"deletion"	"(+)BfaI, BmtI, Cac8I, NheI;(-)BlpI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_201"	"AKU"	"{PMID25153563: Li et al. (2014)}"	"Compound heterozygous"	"1"	"China"	"1"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_8a"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_8"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_8b"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_8"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_22a"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_22"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_22b"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_22"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_34a"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_34"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_34b"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_34"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_9a"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_9"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_9b"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_9"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_133a"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_133"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"2"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_134a"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_134"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}; {PMID25681086: Usher et al. (2015)}"	"Homozygot"	"1"	"United Kingdom"	"2"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_134b"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_134"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}; {PMID25681086: Usher et al. (2015)}"	"Homozygot"	"1"	"United Kingdom"	"2"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_203b"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_203"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_204a"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_204"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Homozygot"	"1"	"United Kingdom"	"2"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_204b"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_204"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Homozygot"	"1"	"United Kingdom"	"2"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_221a"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_221"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_223b"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_223"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_225a"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_225"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_255a"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_255"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"2"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_255b"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_255"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"2"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_259a"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_259"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_259b"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_259"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_260a"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_260"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_260b"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_260"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_261a"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_261"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_261b"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_261"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_253b"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_253"	"AKU"	"submitted, Dr. Jeannette Usher"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00008"	"03"	"c.125A>C"	"r.(?)"	"p.(Glu42Ala)"	"E42A"	"{SNPIDrs373921680: rs373921680}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_263b"	"substitution"	"(+)HhaI, FspI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_263"	"AKU"	"submitted, Dr. Jeannette Usher"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00230"	"03"	"c.127C>G"	"r.(?)"	"p.(Gln43Glu)"	"Q43E"	"{SNPIDrs1243059404: rs1243059404}"	"missense"	"Hexamer disruption"	"{PMID34504318: Soltysova et al. (2021)}, {PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_331b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_331"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00009"	"03"	"c.130C>T"	"r.(?)"	"p.(Leu44Phe)"	"L44F"	"{SNPIDrs1049246177: rs1049246177}"	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_108c"	"substitution"	"(-)AluI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_108"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"Algeria"	"2"	"1"
"AKU_00009"	"03"	"c.130C>T"	"r.(?)"	"p.(Leu44Phe)"	"L44F"	"{SNPIDrs1049246177: rs1049246177}"	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_167a"	"substitution"	"(-)AluI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_167"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00226"	"03"	"c.131T>C"	"r.(?)"	"p.(Leu44Pro)"	"L44P"	"{SNPIDrs1708095030: rs1708095030}"	"missense"	"Hexamer disruption"	"{PMID34504318: Soltysova et al. (2021)}, {PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_297b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_297"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00226"	"03"	"c.131T>C"	"r.(?)"	"p.(Leu44Pro)"	"L44P"	"{SNPIDrs1708095030: rs1708095030}"	"missense"	"Hexamer disruption"	"{PMID34504318: Soltysova et al. (2021)}, {PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_330b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_330"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00226"	"03"	"c.131T>C"	"r.(?)"	"p.(Leu44Pro)"	"L44P"	"{SNPIDrs1708095030: rs1708095030}"	"missense"	"Hexamer disruption"	"{PMID34504318: Soltysova et al. (2021)}, {PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_378a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_378"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00010"	"03"	"c.140C>T"	"r.(?)"	"p.(Ser47Leu)"	"S47L"	"{SNPIDrs369517993: rs369517993}"	"missense"	"Hexamer disruption"	"{PMID10970188: Zatkova et al. (2000a)}"	"CpG"	"AKU_DB_57a"	"substitution"	"(-)MboI, AlwI, Sau3AI, DpnI, DpnII "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_57"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00010"	"03"	"c.140C>T"	"r.(?)"	"p.(Ser47Leu)"	"S47L"	"{SNPIDrs369517993: rs369517993}"	"missense"	"Hexamer disruption"	"{PMID10970188: Zatkova et al. (2000a)}"	"CpG"	"AKU_DB_244a"	"substitution"	"(-)MboI, AlwI, Sau3AI, DpnI, DpnII "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_244"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00010"	"03"	"c.140C>T"	"r.(?)"	"p.(Ser47Leu)"	"S47L"	"{SNPIDrs369517993: rs369517993}"	"missense"	"Hexamer disruption"	"{PMID10970188: Zatkova et al. (2000a)}"	"CpG"	"AKU_DB_244b"	"substitution"	"(-)MboI, AlwI, Sau3AI, DpnI, DpnII "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_244"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00010"	"03"	"c.140C>T"	"r.(?)"	"p.(Ser47Leu)"	"S47L"	"{SNPIDrs369517993: rs369517993}"	"missense"	"Hexamer disruption"	"{PMID10970188: Zatkova et al. (2000a)}"	"CpG"	"AKU_TR2_0106a"	"substitution"	"(-)MboI, AlwI, Sau3AI, DpnI, DpnII "	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0106"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Hungary"	"1"	"1"
"AKU_00010"	"03"	"c.140C>T"	"r.(?)"	"p.(Ser47Leu)"	"S47L"	"{SNPIDrs369517993: rs369517993}"	"missense"	"Hexamer disruption"	"{PMID10970188: Zatkova et al. (2000a)}"	"CpG"	"AKU_TR2_0106b"	"substitution"	"(-)MboI, AlwI, Sau3AI, DpnI, DpnII "	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0106"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Hungary"	"1"	"1"
"AKU_00011"	"03"	"c.157C>T"	"r.(?)"	"p.(Arg53Trp)"	"R53W"	"{SNPIDrs759435977: rs759435977}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID11001939: Rodriguez et al. (2000)}"	"CpG"	"AKU_DB_45a"	"substitution"	"(+)NcoI, StyI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_45"	"AKU"	"{PMID11001939: Rodriguez et al. (2000)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00011"	"03"	"c.157C>T"	"r.(?)"	"p.(Arg53Trp)"	"R53W"	"{SNPIDrs759435977: rs759435977}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID11001939: Rodriguez et al. (2000)}"	"CpG"	"AKU_DB_372b"	"substitution"	"(+)NcoI, StyI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_372"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00152"	"03"	"c.158G>A"	"r.(?)"	"p.(Arg53Gln)"	"R53Q"	"{SNPIDrs200808744: rs200808744}"	"missense"	"Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}; {PMID25681086: Usher et al. (2015)}"	"CpG"	"AKU_DB_169a"	"substitution"	"(-)BsaJI, BtgI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_169"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00152"	"03"	"c.158G>A"	"r.(?)"	"p.(Arg53Gln)"	"R53Q"	"{SNPIDrs200808744: rs200808744}"	"missense"	"Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}; {PMID25681086: Usher et al. (2015)}"	"CpG"	"AKU_DB_169b"	"substitution"	"(-)BsaJI, BtgI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_169"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00152"	"03"	"c.158G>A"	"r.(?)"	"p.(Arg53Gln)"	"R53Q"	"{SNPIDrs200808744: rs200808744}"	"missense"	"Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}; {PMID25681086: Usher et al. (2015)}"	"CpG"	"AKU_TR_0110a"	"substitution"	"(-)BsaJI, BtgI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR_0110"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00152"	"03"	"c.158G>A"	"r.(?)"	"p.(Arg53Gln)"	"R53Q"	"{SNPIDrs200808744: rs200808744}"	"missense"	"Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}; {PMID25681086: Usher et al. (2015)}"	"CpG"	"AKU_TR_0110b"	"substitution"	"(-)BsaJI, BtgI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR_0110"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00152"	"03"	"c.158G>A"	"r.(?)"	"p.(Arg53Gln)"	"R53Q"	"{SNPIDrs200808744: rs200808744}"	"missense"	"Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}; {PMID25681086: Usher et al. (2015)}"	"CpG"	"AKU_DB_207a"	"substitution"	"(-)BsaJI, BtgI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_207"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00152"	"03"	"c.158G>A"	"r.(?)"	"p.(Arg53Gln)"	"R53Q"	"{SNPIDrs200808744: rs200808744}"	"missense"	"Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}; {PMID25681086: Usher et al. (2015)}"	"CpG"	"AKU_DB_211a"	"substitution"	"(-)BsaJI, BtgI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_211"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Homozygot"	"1"	"United Kingdom"	"3"	"1"
"AKU_00152"	"03"	"c.158G>A"	"r.(?)"	"p.(Arg53Gln)"	"R53Q"	"{SNPIDrs200808744: rs200808744}"	"missense"	"Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}; {PMID25681086: Usher et al. (2015)}"	"CpG"	"AKU_DB_211b"	"substitution"	"(-)BsaJI, BtgI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_211"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Homozygot"	"1"	"United Kingdom"	"3"	"1"
"AKU_00152"	"03"	"c.158G>A"	"r.(?)"	"p.(Arg53Gln)"	"R53Q"	"{SNPIDrs200808744: rs200808744}"	"missense"	"Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}; {PMID25681086: Usher et al. (2015)}"	"CpG"	"AKU_DB_247a"	"substitution"	"(-)BsaJI, BtgI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_247"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Greece"	"1"	"1"
"AKU_00152"	"03"	"c.158G>A"	"r.(?)"	"p.(Arg53Gln)"	"R53Q"	"{SNPIDrs200808744: rs200808744}"	"missense"	"Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}; {PMID25681086: Usher et al. (2015)}"	"CpG"	"AKU_DB_247b"	"substitution"	"(-)BsaJI, BtgI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_247"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Greece"	"1"	"1"
"AKU_00152"	"03"	"c.158G>A"	"r.(?)"	"p.(Arg53Gln)"	"R53Q"	"{SNPIDrs200808744: rs200808744}"	"missense"	"Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}; {PMID25681086: Usher et al. (2015)}"	"CpG"	"AKU_DB_248a"	"substitution"	"(-)BsaJI, BtgI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_248"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00152"	"03"	"c.158G>A"	"r.(?)"	"p.(Arg53Gln)"	"R53Q"	"{SNPIDrs200808744: rs200808744}"	"missense"	"Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}; {PMID25681086: Usher et al. (2015)}"	"CpG"	"AKU_DB_248b"	"substitution"	"(-)BsaJI, BtgI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_248"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00152"	"03"	"c.158G>A"	"r.(?)"	"p.(Arg53Gln)"	"R53Q"	"{SNPIDrs200808744: rs200808744}"	"missense"	"Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}; {PMID25681086: Usher et al. (2015)}"	"CpG"	"AKU_DB_280a"	"substitution"	"(-)BsaJI, BtgI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_280"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00152"	"03"	"c.158G>A"	"r.(?)"	"p.(Arg53Gln)"	"R53Q"	"{SNPIDrs200808744: rs200808744}"	"missense"	"Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}; {PMID25681086: Usher et al. (2015)}"	"CpG"	"AKU_DB_280b"	"substitution"	"(-)BsaJI, BtgI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_280"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00152"	"03"	"c.158G>A"	"r.(?)"	"p.(Arg53Gln)"	"R53Q"	"{SNPIDrs200808744: rs200808744}"	"missense"	"Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}; {PMID25681086: Usher et al. (2015)}"	"CpG"	"AKU_TR2_0130a"	"substitution"	"(-)BsaJI, BtgI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0130"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Italy"	"3"	"1"
"AKU_00152"	"03"	"c.158G>A"	"r.(?)"	"p.(Arg53Gln)"	"R53Q"	"{SNPIDrs200808744: rs200808744}"	"missense"	"Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}; {PMID25681086: Usher et al. (2015)}"	"CpG"	"AKU_TR2_0130b"	"substitution"	"(-)BsaJI, BtgI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0130"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Italy"	"3"	"1"
"AKU_00152"	"03"	"c.158G>A"	"r.(?)"	"p.(Arg53Gln)"	"R53Q"	"{SNPIDrs200808744: rs200808744}"	"missense"	"Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}; {PMID25681086: Usher et al. (2015)}"	"CpG"	"AKU_TR2_0228b"	"substitution"	"(-)BsaJI, BtgI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0228"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00152"	"03"	"c.158G>A"	"r.(?)"	"p.(Arg53Gln)"	"R53Q"	"{SNPIDrs200808744: rs200808744}"	"missense"	"Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}; {PMID25681086: Usher et al. (2015)}"	"CpG"	"AKU_DB_285a"	"substitution"	"(-)BsaJI, BtgI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_285"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00152"	"03"	"c.158G>A"	"r.(?)"	"p.(Arg53Gln)"	"R53Q"	"{SNPIDrs200808744: rs200808744}"	"missense"	"Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}; {PMID25681086: Usher et al. (2015)}"	"CpG"	"AKU_DB_285b"	"substitution"	"(-)BsaJI, BtgI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_285"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00012"	"03"	"c.171G>C"	"r.(?)"	"p.(Lys57Asn)"	"K57N"	""	"missense"	"Protomer destabilisation"	"{PMID19306858: Grasko et al. (2009)}"	""	"AKU_GRA_1a"	"substitution"	"(+)AlwNI "	""	"DNA"	"SEQ"	"exon"	"AKU_GRA_1"	"AKU"	"{PMID19306858: Grasko et al. (2009)}"	"Compound heterozygous"	"1"	"Australia"	"1"	"1"
"AKU_00227"	"03"	"c.174A>T"	"r.(?)"	"p.(Arg58Ser)"	"R58S"	""	"missense"	"Protomer destabilisation"	"{PMID34504318: Soltysova et al. (2021)}"	""	"AKU_DB_307b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_307"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_ABD_1a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_ABD_1"	"AKU"	"{PMID18945288: Abdulrazzag et al. (2008)}"	"Homozygot"	"1"	"UAE"	"3"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_ABD_1b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_ABD_1"	"AKU"	"{PMID18945288: Abdulrazzag et al. (2008)}"	"Homozygot"	"1"	"UAE"	"3"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_40a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_40"	"AKU"	"{PMID10594001: de Bernabe et al. (1999b)}"	"Homozygot"	"1"	"Finland"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_40b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_40"	"AKU"	"{PMID10594001: de Bernabe et al. (1999b)}"	"Homozygot"	"1"	"Finland"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_49a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_49"	"AKU"	"{PMID16085442: Ladjouze-Rezig et al. (2006)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_66a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_66"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_89a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_89"	"AKU"	"{PMID12872836: Uyguner et al. (2003)}"	"Homozygot"	"1"	"Turkey"	"7"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_89b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_89"	"AKU"	"{PMID12872836: Uyguner et al. (2003)}"	"Homozygot"	"1"	"Turkey"	"7"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_90a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_90"	"AKU"	"{PMID12872836: Uyguner et al. (2003)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_90b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_90"	"AKU"	"{PMID12872836: Uyguner et al. (2003)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_92a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_92"	"AKU"	"{PMID12872836: Uyguner et al. (2003)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_92b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_92"	"AKU"	"{PMID12872836: Uyguner et al. (2003)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_SRS_19b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_19"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_VIL_11a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_11"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_VIL_11b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_11"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_VIL_17a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_17"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_VIL_2a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_2"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_VIL_25a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_25"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_VIL_25b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_25"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_VIL_27a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_27"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_VIL_3a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_3"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_VIL_70a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_70"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"2"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_VIL_88a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_88"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_VIL_95a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_95"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_AQR_14a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_AQR_14"	"AKU"	"Aquaron et al. (2009)"	"Compound heterozygous"	"1"	"La Reunion"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_129a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_129"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_137a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_137"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_147b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_147"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_166a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_166"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_166b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_166"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_183a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_183"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_183b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_183"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_197a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_197"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Canada"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_210a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_210"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"2"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_210b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_210"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"2"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_213a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_213"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_213b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_213"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_214a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_214"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_217b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_217"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TR2_0327a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0327"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_238a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_238"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Iran"	"2"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_238b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_238"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Iran"	"2"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_249a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_249"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_249b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_249"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_257a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_257"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_257b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_257"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_265a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_265"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_265b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_265"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_266a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_266"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_266b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_266"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TR2_0303a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0303"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Belgium"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TR2_0123a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0123"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Wales"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TR2_0234b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0234"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TR2_0236a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0236"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_289b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_289"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_325b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_325"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_332a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_332"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_332b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_332"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_338a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_338"	"AKU"	"Kilavuz et al. 2018"	"Compound heterozygous"	"1"	"Turkey"	"2"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_339a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_339"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"3"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_339b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_339"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"3"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_348a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_348"	"AKU"	"Kilavuz et al. 2018"	"Compound heterozygous"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_349a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_349"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_349b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_349"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_352a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_352"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_352b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_352"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_353a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_353"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_353b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_353"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_358a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_358"	"AKU"	"Akbaba et al. 2020"	"Compound heterozygous"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_359a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_359"	"AKU"	"Akbaba et al. 2020"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_359b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_359"	"AKU"	"Akbaba et al. 2020"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_362a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_362"	"AKU"	"Akbaba et al. 2020"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_362b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_362"	"AKU"	"Akbaba et al. 2020"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_363a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_363"	"AKU"	"Akbaba et al. 2020"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_363b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_363"	"AKU"	"Akbaba et al. 2020"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_365a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_365"	"AKU"	"Akbaba et al. 2020"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_365b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_365"	"AKU"	"Akbaba et al. 2020"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_01a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_01"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_01b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_01"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_01a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_01"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_01c"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_01"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_02a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_02"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"2"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_02b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_02"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"2"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_04a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_04"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_04b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_04"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_05a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_05"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"3"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_05b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_05"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"3"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_07a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_07"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_07b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_07"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_07a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_07"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Compound heterozygous"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_11a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_11"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Compound heterozygous"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_13a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_13"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_13b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_13"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_14a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_14"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_14b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_14"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_16a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_16"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"2"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_16b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_16"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"2"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_17a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_17"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"2"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_17b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_17"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"2"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_18a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_18"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"2"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_18b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_18"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"2"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_19a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_19"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_19b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_19"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_20a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_20"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_20b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_20"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_21a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_21"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_21b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_21"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_23a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_23"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_23b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_23"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_24a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_24"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_24b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_24"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_25a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_25"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_25b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_25"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_26a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_26"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_26b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_26"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_27a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_27"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"7"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_27b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_27"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"7"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_27a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_27"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"7"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_27c"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_27"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"7"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_32a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_32"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_32b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_32"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_36a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_36"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_36b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TU_36"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_393a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_393"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_396a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_396"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"2"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_396b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_396"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"2"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_399a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_399"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_399b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_399"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_400a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_400"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_400b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_400"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00013"	"03"	"c.175delA"	"r.(?)"	"p.(Ser59Alafs*52)"	"S59fs (R58fs)"	"{SNPIDrs1210546039: rs1210546039}"	"frameshift"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_432a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_432"	"AKU"	"submitted, Dr. Pelin Teke Kisa"	"Compound heterozygous"	"1"	"Turkey"	"1"	"1"
"AKU_00128"	"03i"	"c.176+114T>A"	"r.(?)"	"p.(?)"	"ivs3+114T>A"	""	"polymorphism"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_POL_22"	"substitution"	""	"0,013(A)"	"DNA"	"SEQ"	"intron"	"AKU_POL_22"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"1"	""	"1"	"1"
"AKU_00109"	"03i"	"c.177-112C>T"	"r.(?)"	"p.(?)"	"ivs3-112C>T"	""	"polymorphism"	""	"{AKU database}"	""	"AKU_POL_3"	"substitution"	""	"0,45(T)"	"DNA"	"SEQ"	"intron"	"AKU_POL_3"	""	"{AKU database}"	""	"1"	""	"1"	"1"
"AKU_00112"	"03i"	"c.177-52A>C"	"r.(?)"	"p.(?)"	"ivs3-52A>C"	"{SNPIDrs376858353: rs376858353}"	"polymorphism"	""	"{AKU database}"	""	"AKU_POL_6"	"substitution"	""	"0,01(C)"	"DNA"	"SEQ"	"intron"	"AKU_POL_6"	""	"{AKU database}"	""	"1"	""	"1"	"1"
"AKU_00111"	"03i"	"c.177-50C>T"	"r.(?)"	"p.(?)"	"ivs3-50C>T"	"{SNPIDrs145728491: rs145728491}"	"polymorphism"	""	"{AKU database}"	""	"AKU_POL_5"	"substitution"	""	"0,03(T)"	"DNA"	"SEQ"	"intron"	"AKU_POL_5"	""	"{AKU database}"	""	"1"	""	"1"	"1"
"AKU_00110"	"03i"	"c.177-35T>G"	"r.(?)"	"p.(?)"	"ivs3-35T>G"	""	"polymorphism"	""	"{AKU database}"	""	"AKU_POL_4"	"substitution"	""	"0,01(G)"	"DNA"	"SEQ"	"intron"	"AKU_POL_4"	""	"{AKU database}"	""	"1"	""	"1"	"1"
"AKU_00015"	"03i"	"c.177-2A>G"	"r.(spl?)"	"p.(Trp60Leufs*16)"	"ivs3-2A>G"	"{SNPIDrs762524252: rs762524252}"	"aberrant splicing (AS)/exon skipping/frameshift?"	""	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_PHO_4"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_PHO_4"	"AKU"	"{PMID12501223: Phornphutkul et al. (2002)}"	"?"	"1"	"USA"	"1"	"1"
"AKU_00115"	"04i"	"al.161-163;(CT)n (c.283-5218_283-5168(CT)n)"	"r.(?)"	"p.(?)"	"HGO-1, D3S4496"	""	"polymorphism,GDB:5584234/UniSTS:474553"	""	"{PMID9244427: Granadino et al. (1997)}"	""	"AKU_POL_9"	"dinucleotide repeat"	""	"0,89(al.161);0,11(al.163)"	"DNA"	"SEQ"	"intron"	"AKU_POL_9"	""	"{PMID9244427: Granadino et al. (1997)}"	""	"1"	""	"1"	"1"
"AKU_00114"	"04i"	"al.175-201;(CA)n (c.282+942_282+979(TG)n)"	"r.(?)"	"p.(?)"	"HGO-3, D3S4556"	""	"polymorphism,GDB:"	""	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_POL_8"	"dinucleotide repeat"	""	"0,208(al.189);0,2(al.193)"	"DNA"	"SEQ"	"intron"	"AKU_POL_8"	""	"{PMID9529363: de Bernabe et al. (1998)}"	""	"1"	""	"1"	"1"
"AKU_00016"	"04"	"c.178T>G"	"r.(?)"	"p.(Trp60Gly)"	"W60G"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10205262: de Bernabe et al. (1999a)}"	""	"AKU_DB_23b"	"substitution"	"(+)FauI, AciI; (-)AluI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_23"	"AKU"	"{PMID10205262: de Bernabe et al. (1999a)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00016"	"04"	"c.178T>G"	"r.(?)"	"p.(Trp60Gly)"	"W60G"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10205262: de Bernabe et al. (1999a)}"	""	"AKU_VIL_26a"	"substitution"	"(+)FauI, AciI; (-)AluI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_26"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00016"	"04"	"c.178T>G"	"r.(?)"	"p.(Trp60Gly)"	"W60G"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10205262: de Bernabe et al. (1999a)}"	""	"AKU_VIL_52a"	"substitution"	"(+)FauI, AciI; (-)AluI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_52"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00017"	"04"	"c.179G>A"	"r.(?)"	"p.(Trp60*)"	"W60*"	"{SNPIDrs1057516467: rs1057516467}"	"nonsense"	""	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_107a"	"substitution"	"(+)NheI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_107"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00017"	"04"	"c.179G>A"	"r.(?)"	"p.(Trp60*)"	"W60*"	"{SNPIDrs1057516467: rs1057516467}"	"nonsense"	""	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_107b"	"substitution"	"(+)NheI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_107"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00202"	"04"	"c.180G>A"	"r.(?)"	"p.(Trp60*)"	"W60*"	""	"nonsense"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_242a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_242"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Sri Lanka"	"1"	"1"
"AKU_00202"	"04"	"c.180G>A"	"r.(?)"	"p.(Trp60*)"	"W60*"	""	"nonsense"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_242b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_242"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Sri Lanka"	"1"	"1"
"AKU_00018"	"04"	"c.182T>C"	"r.(?)"	"p.(Leu61Pro)"	"L61P"	"{SNPIDrs1324654414: rs1324654414}"	"missense"	"Protomer destabilisation"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_VIL_16a"	"substitution"	"(+)HaeIII "	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_16"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00018"	"04"	"c.182T>C"	"r.(?)"	"p.(Leu61Pro)"	"L61P"	"{SNPIDrs1324654414: rs1324654414}"	"missense"	"Protomer destabilisation"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_VIL_16b"	"substitution"	"(+)HaeIII "	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_16"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00224"	"04"	"c.184T>A"	"r.(?)"	"p.(Tyr62Asn)"	"Y62N"	""	"missense"	"Protomer destabilisation"	"{PMID34504318: Soltysova et al. (2021)}"	""	"AKU_DB_291a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_291"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00175"	"04"	"c.184_187dupTATA"	"r.(?)"	"p.(arg63Ilefs*2)"	"R63fs"	""	"frameshift"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR2_0262a"	"duplication"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0262"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Poland"	"1"	"1"
"AKU_00019"	"04"	"c.185A>G"	"r.(?)"	"p.(Tyr62Cys)"	"Y62C"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10205262: de Bernabe et al. (1999a)}"	""	"AKU_DB_20a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_20"	"AKU"	"{PMID10205262: de Bernabe et al. (1999a)}"	"Homozygot"	"1"	"France"	"2"	"1"
"AKU_00019"	"04"	"c.185A>G"	"r.(?)"	"p.(Tyr62Cys)"	"Y62C"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10205262: de Bernabe et al. (1999a)}"	""	"AKU_DB_20b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_20"	"AKU"	"{PMID10205262: de Bernabe et al. (1999a)}"	"Homozygot"	"1"	"France"	"2"	"1"
"AKU_00019"	"04"	"c.185A>G"	"r.(?)"	"p.(Tyr62Cys)"	"Y62C"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10205262: de Bernabe et al. (1999a)}"	""	"AKU_VIL_41a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_41"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00019"	"04"	"c.185A>G"	"r.(?)"	"p.(Tyr62Cys)"	"Y62C"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10205262: de Bernabe et al. (1999a)}"	""	"AKU_DB_387b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_387"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00239"	"04"	"c.189G>A"	"r.(?)"	"p.(Arg63Arg)"	"R63R"	""	"silent/aberrant splicing?"	""	"{PMID33746036: Kisa et al. (2021)}"	""	"AKU_TU_06a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_TU_06"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00239"	"04"	"c.189G>A"	"r.(?)"	"p.(Arg63Arg)"	"R63R"	""	"silent/aberrant splicing?"	""	"{PMID33746036: Kisa et al. (2021)}"	""	"AKU_TU_06b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_TU_06"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00239"	"04"	"c.189G>A"	"r.(?)"	"p.(Arg63Arg)"	"R63R"	""	"silent/aberrant splicing?"	""	"{PMID33746036: Kisa et al. (2021)}"	""	"AKU_TU_06a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_TU_06"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00239"	"04"	"c.189G>A"	"r.(?)"	"p.(Arg63Arg)"	"R63R"	""	"silent/aberrant splicing?"	""	"{PMID33746036: Kisa et al. (2021)}"	""	"AKU_TU_06c"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_TU_06"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00244"	"04"	"c.189G>T"	"r.(?)"	"p.(Arg63Ser)"	"R63S"	"{SNPIDrs1390061303: rs1390061303}"	"missense"	"?"	"Noorian et al. 2018"	""	"AKU_DB_379a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_379"	"AKU"	"Noorian et al. 2018"	"Homozygot"	"1"	"Iran"	"2"	"1"
"AKU_00244"	"04"	"c.189G>T"	"r.(?)"	"p.(Arg63Ser)"	"R63S"	"{SNPIDrs1390061303: rs1390061303}"	"missense"	"?"	"Noorian et al. 2018"	""	"AKU_DB_379b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_379"	"AKU"	"Noorian et al. 2018"	"Homozygot"	"1"	"Iran"	"2"	"1"
"AKU_00020"	"04"	"c.217T>C"	"r.(?)"	"p.(Phe73Leu)"	"F73L"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID19862842: Vilboux et al. (2009)}"	"CCC triplet"	"AKU_VIL_77a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_77"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00020"	"04"	"c.217T>C"	"r.(?)"	"p.(Phe73Leu)"	"F73L"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID19862842: Vilboux et al. (2009)}"	"CCC triplet"	"AKU_TR2_0122a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0122"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Spain"	"1"	"1"
"AKU_00256"	"04"	"c.221A>T "	"r.(?)"	"p.(Glu74Val)"	"E74V"	"{SNPIDrs141965690: rs141965690}"	"missense"	""	"{PMID23092576: Hu et al. (2012)}"	""	"AKU_DB_425a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_425"	"AKU"	"{PMID23092576: Hu et al. (2012)}"	"Compound heterozygous"	"1"	"China"	"1"	"1"
"AKU_00113"	"04"	"c.240A>T"	"r.(?)"	"p.(His80Gln)"	"H80Q"	"{SNPIDrs2255543: rs2255543}"	"missense/polymorphism"	""	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_POL_7"	"substitution"	"(+)NlaIII "	"0,22(A)"	"DNA"	"SEQ"	"exon"	"AKU_POL_7"	""	"{PMID9529363: de Bernabe et al. (1998)}"	""	"1"	""	"1"	"1"
"AKU_00129"	"04"	"c.260A>C"	"r.(?)"	"p.(Glu87Ala)"	"E87A"	"{SNPIDrs35702995: rs35702995}"	"missense/polymorphism"	"Protomer destabilisation, Hexamer disruption"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_POL_23"	"substitution"	"(+)SfaNI"	""	"DNA"	"SEQ"	"exon"	"AKU_POL_23"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"1"	""	"1"	"1"
"AKU_00021"	"04"	"c.274C>A"	"r.(?)"	"p.(Pro92Thr)"	"P92T"	""	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_VIL_40a"	"substitution"	"(-)BsaBI "	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_40"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00116"	"04i"	"c.282+31A>G"	"r.(?)"	"p.(?)"	"ivs4+31A>G"	"{SNPIDrs1800722: rs1800722}"	"polymorphism"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_POL_10"	"substitution"	""	"0,02(G)"	"DNA"	"SEQ"	"intron"	"AKU_POL_10"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"1"	""	"1"	"1"
"AKU_00130"	"04i"	"c.283-145C>T"	"r.(?)"	"p.(?)"	"ivs4-145C>T"	""	"polymorphism"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_POL_24"	"substitution"	""	"0,032(T)"	"DNA"	"SEQ"	"intron"	"AKU_POL_24"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"1"	""	"1"	"1"
"AKU_00117"	"04i"	"c.283-14insA "	"r.(?)"	"p.(?)"	"ivs4-14insA"	""	"polymorphism"	""	"{AKU database}"	""	"AKU_POL_11"	"insertion"	""	"0,01(A)"	"DNA"	"SEQ"	"intron"	"AKU_POL_11"	""	"{AKU database}"	""	"1"	""	"1"	"1"
"AKU_00118"	"04i"	"c.283-4T>C "	"r.(?)"	"p.(?)"	"ivs4-4T>C"	""	"aberrant splicing (AS)/exon skipping, polymorphism?"	""	"{AKU database}"	""	"AKU_POL_12"	"substitution"	""	"0,001(C)"	"DNA"	"SEQ"	"intron"	"AKU_POL_12"	""	"{AKU database}"	""	"1"	""	"1"	"1"
"AKU_00197"	"05_06"	"c.283-9199_c.434+1688del"	"r.(?)"	"p.(Leu95Metfs*33)"	"ex5,6 del"	""	"deletion"	""	"{PMID30737480: Ascher et al. (2019)}"	"CpG"	"AKU_TR2_0115b"	"deletion"	""	""	"DNA"	"SEQ, MLPA"	"exon"	"AKU_TR2_0115"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Netherland"	"1"	"1"
"AKU_00022"	"05"	"c.289T>C"	"r.(?)"	"p.(Trp97Arg)"	"W97R"	""	"missense"	"Protomer destabilisation"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_VIL_49a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_49"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00022"	"05"	"c.289T>C"	"r.(?)"	"p.(Trp97Arg)"	"W97R"	""	"missense"	"Protomer destabilisation"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_VIL_51a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_51"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00023"	"05"	"c.289T>G"	"r.(?)"	"p.(Trp97Gly)"	"W97G"	""	"missense"	"Protomer destabilisation"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_14a"	"substitution"	"(+)MnlI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_14"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Homozygot"	"1"	"France"	"3"	"1"
"AKU_00023"	"05"	"c.289T>G"	"r.(?)"	"p.(Trp97Gly)"	"W97G"	""	"missense"	"Protomer destabilisation"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_14b"	"substitution"	"(+)MnlI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_14"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Homozygot"	"1"	"France"	"3"	"1"
"AKU_00023"	"05"	"c.289T>G"	"r.(?)"	"p.(Trp97Gly)"	"W97G"	""	"missense"	"Protomer destabilisation"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_19a"	"substitution"	"(+)MnlI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_19"	"AKU"	"{PMID11001939: Rodriguez et al. (2000)}"	"Compound heterozygous"	"1"	"Switzerland"	"1"	"1"
"AKU_00023"	"05"	"c.289T>G"	"r.(?)"	"p.(Trp97Gly)"	"W97G"	""	"missense"	"Protomer destabilisation"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_TR2_0307b"	"substitution"	"(+)MnlI "	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0307"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00023"	"05"	"c.289T>G"	"r.(?)"	"p.(Trp97Gly)"	"W97G"	""	"missense"	"Protomer destabilisation"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_TR3_0130b"	"substitution"	"(+)MnlI "	""	"DNA"	"SEQ"	"exon"	"AKU_TR3_0130"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Belgium"	"1"	"1"
"AKU_00243"	"05"	"c.291G>A"	"r.(?)"	"p.(Trp97*)"	"W97*"	"{SNPIDrs766714128: rs766714128}"	"nonsense"	""	"clinvar database"	""	"AKU_CV_01a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_CV_01"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Compound heterozygous"	"1"	"?"	"1"	"1"
"AKU_00243"	"05"	"c.291G>A"	"r.(?)"	"p.(Trp97*)"	"W97*"	"{SNPIDrs766714128: rs766714128}"	"nonsense"	""	"clinvar database, {PMID34686677: Lee et al. (2022)}"	""	"AKU_DB_422a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_422"	"AKU"	"{PMID34686677: Lee et al. (2022)}"	"Compound heterozygous"	"1"	"Taiwan"	"1"	"1"
"AKU_00177"	"05"	"c.291G>C"	"r.(?)"	"p.(Trp97Cys)"	"W97C"	""	"missense"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR2_0118a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0118"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Poland"	"1"	"1"
"AKU_00177"	"05"	"c.291G>C"	"r.(?)"	"p.(Trp97Cys)"	"W97C"	""	"missense"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR2_0118b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0118"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Poland"	"1"	"1"
"AKU_00220"	"05"	"c.299T>C"	"r.(?)"	"p.(Phe100Ser)"	"F100S"	""	"missense"	"Protomer destabilisation"	"submitted, Dr. Andrea Zatkova"	""	"AKU_DB_283b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_283"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00242"	"05"	"c.334T>G"	"r.(?)"	"p.(Phe112Val)"	"F112V"	""	"missense"	"?"	"{PMID33746036: Kisa et al. (2021)}"	""	"AKU_TU_29a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_TU_29"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Compound heterozygous"	"1"	"Turkey"	"1"	"1"
"AKU_00260"	"05"	"c.335T>C"	"r.(?)"	"p.(Phe112Ser)"	"F112S"	""	"missense"	""	"{PMID36253209: Puente et al. (2022)}"	""	"AKU_DB_435a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_435"	"AKU"	"{PMID36253209: Puente et al. (2022)}"	"Compound heterozygous"	"1"	"Spain"	"2"	"1"
"AKU_00025"	"05i"	"c.342+1G>A"	"r.(spl?)"	"p.(Leu95_Ser114del)"	"ivs5+1G>A"	"{SNPIDrs397515518: rs397515518}"	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	"c.342+1G"	"AKU_DB_41a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_41"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00025"	"05i"	"c.342+1G>A"	"r.(spl?)"	"p.(Leu95_Ser114del)"	"ivs5+1G>A"	"{SNPIDrs397515518: rs397515518}"	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	"c.342+1G"	"AKU_DB_51a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_51"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Homozygot"	"1"	"Slovakia"	"2"	"1"
"AKU_00025"	"05i"	"c.342+1G>A"	"r.(spl?)"	"p.(Leu95_Ser114del)"	"ivs5+1G>A"	"{SNPIDrs397515518: rs397515518}"	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	"c.342+1G"	"AKU_DB_51b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_51"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Homozygot"	"1"	"Slovakia"	"2"	"1"
"AKU_00025"	"05i"	"c.342+1G>A"	"r.(spl?)"	"p.(Leu95_Ser114del)"	"ivs5+1G>A"	"{SNPIDrs397515518: rs397515518}"	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	"c.342+1G"	"AKU_DB_51b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_51"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00025"	"05i"	"c.342+1G>A"	"r.(spl?)"	"p.(Leu95_Ser114del)"	"ivs5+1G>A"	"{SNPIDrs397515518: rs397515518}"	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	"c.342+1G"	"AKU_MUL_1a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_MUL_1"	"AKU"	"{PMID10482952: Muller et al. (1999)}"	"Compound heterozygous"	"1"	"Czech republic"	"1"	"1"
"AKU_00025"	"05i"	"c.342+1G>A"	"r.(spl?)"	"p.(Leu95_Ser114del)"	"ivs5+1G>A"	"{SNPIDrs397515518: rs397515518}"	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	"c.342+1G"	"AKU_VIL_15a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_VIL_15"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00025"	"05i"	"c.342+1G>A"	"r.(spl?)"	"p.(Leu95_Ser114del)"	"ivs5+1G>A"	"{SNPIDrs397515518: rs397515518}"	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	"c.342+1G"	"AKU_DB_301a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_301"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00025"	"05i"	"c.342+1G>A"	"r.(spl?)"	"p.(Leu95_Ser114del)"	"ivs5+1G>A"	"{SNPIDrs397515518: rs397515518}"	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	"c.342+1G"	"AKU_DB_301b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_301"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00025"	"05i"	"c.342+1G>A"	"r.(spl?)"	"p.(Leu95_Ser114del)"	"ivs5+1G>A"	"{SNPIDrs397515518: rs397515518}"	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID10482952: Muller et al. (1999)}"	"c.342+1G"	"AKU_DB_435b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_435"	"AKU"	"{PMID36253209: Puente et al. (2022)}"	"Compound heterozygous"	"1"	"Spain"	"2"	"1"
"AKU_00024"	"05i"	"c.342+1G>T"	"r.(spl?)"	"p.(Leu95_Ser114del)"	"ivs5+1G>T"	"{SNPIDrs397515518: rs397515518}"	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID9529363: de Bernabe et al. (1998)}"	"c.342+1G"	"AKU_DB_9a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_9"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Homozygot"	"1"	"The Netherlands"	"1"	"1"
"AKU_00024"	"05i"	"c.342+1G>T"	"r.(spl?)"	"p.(Leu95_Ser114del)"	"ivs5+1G>T"	"{SNPIDrs397515518: rs397515518}"	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID9529363: de Bernabe et al. (1998)}"	"c.342+1G"	"AKU_DB_9b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_9"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Homozygot"	"1"	"The Netherlands"	"1"	"1"
"AKU_00024"	"05i"	"c.342+1G>T"	"r.(spl?)"	"p.(Leu95_Ser114del)"	"ivs5+1G>T"	"{SNPIDrs397515518: rs397515518}"	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID9529363: de Bernabe et al. (1998)}"	"c.342+1G"	"AKU_VIL_19a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_VIL_19"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00024"	"05i"	"c.342+1G>T"	"r.(spl?)"	"p.(Leu95_Ser114del)"	"ivs5+1G>T"	"{SNPIDrs397515518: rs397515518}"	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID9529363: de Bernabe et al. (1998)}"	"c.342+1G"	"AKU_VIL_54a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_VIL_54"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00024"	"05i"	"c.342+1G>T"	"r.(spl?)"	"p.(Leu95_Ser114del)"	"ivs5+1G>T"	"{SNPIDrs397515518: rs397515518}"	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID9529363: de Bernabe et al. (1998)}"	"c.342+1G"	"AKU_VIL_6a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_VIL_6"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00024"	"05i"	"c.342+1G>T"	"r.(spl?)"	"p.(Leu95_Ser114del)"	"ivs5+1G>T"	"{SNPIDrs397515518: rs397515518}"	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID9529363: de Bernabe et al. (1998)}"	"c.342+1G"	"AKU_VIL_6b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_VIL_6"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00024"	"05i"	"c.342+1G>T"	"r.(spl?)"	"p.(Leu95_Ser114del)"	"ivs5+1G>T"	"{SNPIDrs397515518: rs397515518}"	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID9529363: de Bernabe et al. (1998)}"	"c.342+1G"	"AKU_VIL_8a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_VIL_8"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00024"	"05i"	"c.342+1G>T"	"r.(spl?)"	"p.(Leu95_Ser114del)"	"ivs5+1G>T"	"{SNPIDrs397515518: rs397515518}"	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID9529363: de Bernabe et al. (1998)}"	"c.342+1G"	"AKU_VIL_8b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_VIL_8"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00024"	"05i"	"c.342+1G>T"	"r.(spl?)"	"p.(Leu95_Ser114del)"	"ivs5+1G>T"	"{SNPIDrs397515518: rs397515518}"	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID9529363: de Bernabe et al. (1998)}"	"c.342+1G"	"AKU_DB_123a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_123"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"2"	"1"
"AKU_00166"	"05i"	"c.342+3A>C"	"r.(spl?)"	"p.(Leu95_Ser114del)"	"ivs5+3A>C"	"{SNPIDrs1182670238: rs1182670238}"	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID25153563: Li et al. (2014)}"	""	"AKU_DB_201b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_201"	"AKU"	"{PMID25153563: Li et al. (2014)}"	"Compound heterozygous"	"1"	"China"	"1"	"1"
"AKU_00166"	"05i"	"c.342+3A>C"	"r.(spl?)"	"p.(Leu95_Ser114del)"	"ivs5+3A>C"	"{SNPIDrs1182670238: rs1182670238}"	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID25153563: Li et al. (2014)}"	""	"AKU_DB_252a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_252"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00166"	"05i"	"c.342+3A>C"	"r.(spl?)"	"p.(Leu95_Ser114del)"	"ivs5+3A>C"	"{SNPIDrs1182670238: rs1182670238}"	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"{PMID25153563: Li et al. (2014)}"	""	"AKU_DB_252b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_252"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00166"	"05i"	"c.342+3A>C"	"r.(spl?)"	"p.(Leu95_Ser114del)"	"ivs5+3A>C"	"{SNPIDrs1182670238: rs1182670238}"	"aberrant splicing (DS)/exon skipping/in frame deletion"	""	"{PMID25153563: Li et al. (2014)}"	""	"AKU_DB_279a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_279"	"AKU"	"Cho a Kim 2018"	"Compound heterozygous"	"1"	"Korea"	"1"	"1"
"AKU_00214"	"05i"	"c.342+5G>A"	"r.(spl?)"	"p.(Leu95_Ser114del)"	"ivs5+5G>A"	""	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"submitted, Dr. Mohammed Alsbou"	""	"AKU_DB_451a"	"substitution"	"?"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_451"	"AKU"	"submitted, Dr. Mohammed Alsbou"	"Homozygot"	"1"	"Iraq"	"1"	"1"
"AKU_00214"	"05i"	"c.342+5G>A"	"r.(spl?)"	"p.(Leu95_Ser114del)"	"ivs5+5G>A"	""	"aberrant splicing (DS)/exon skipping/in frame deletion?"	""	"submitted, Dr. Mohammed Alsbou"	""	"AKU_DB_451b"	"substitution"	"?"	""	"DNA"	"SEQ"	"intron"	"AKU_DB_451"	"AKU"	"submitted, Dr. Mohammed Alsbou"	"Homozygot"	"1"	"Iraq"	"1"	"1"
"AKU_00119"	"05i"	"c.342+25T>C"	"r.(?)"	"p.(?)"	"ivs5+25T>C"	"{SNPIDrs2551607: rs2551607}"	"polymorphism"	""	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_POL_13"	"substitution"	""	"0,12(C.)"	"DNA"	"SEQ"	"intron"	"AKU_POL_13"	""	"{PMID9529363: de Bernabe et al. (1998)}"	""	"1"	""	"1"	"1"
"AKU_00192"	"05i"	"c.343-11G>A"	"r.(?)"	"p.(?)"	"ivs5-11G>A"	"{SNPIDrs143223637: rs143223637}"	"polymorphism"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR2_0332c"	"substitution"	""	""	"DNA/RNA"	"SEQ"	"intron"	"AKU_TR_0332"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Mali"	"1"	"1"
"AKU_00192"	"05i"	"c.343-11G>A"	"r.(?)"	"p.(?)"	"ivs5-11G>A"	"{SNPIDrs143223637: rs143223637}"	"polymorphism"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR2_0332d"	"substitution"	""	""	"DNA/RNA"	"SEQ"	"intron"	"AKU_TR_0332"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Mali"	"1"	"1"
"AKU_00146"	"06"	"c.343G>C"	"r.(?)"	"p.(Gly115Arg)"	"G115R"	"{SNPIDrs755734596: rs755734596}"	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_124a"	"substitution"	"(+)PleI, HinfI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_124"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00146"	"06"	"c.343G>C"	"r.(?)"	"p.(Gly115Arg)"	"G115R"	"{SNPIDrs755734596: rs755734596}"	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_126a"	"substitution"	"(+)PleI, HinfI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_126"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom/France"	"1"	"1"
"AKU_00146"	"06"	"c.343G>C"	"r.(?)"	"p.(Gly115Arg)"	"G115R"	"{SNPIDrs755734596: rs755734596}"	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_222b"	"substitution"	"(+)PleI, HinfI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_222"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00146"	"06"	"c.343G>C"	"r.(?)"	"p.(Gly115Arg)"	"G115R"	"{SNPIDrs755734596: rs755734596}"	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_269a"	"substitution"	"(+)PleI, HinfI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_269"	"AKU"	"submitted, Dr. Jeannette Usher"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00026"	"06"	"c.347T>C"	"r.(?)"	"p.(Leu116Pro)"	"L116P"	"{SNPIDrs569846003: rs569846003}"	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_112a"	"substitution"	"(+)FauI, AciI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_112"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00026"	"06"	"c.347T>C"	"r.(?)"	"p.(Leu116Pro)"	"L116P"	"{SNPIDrs569846003: rs569846003}"	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_112b"	"substitution"	"(+)FauI, AciI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_112"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00026"	"06"	"c.347T>C"	"r.(?)"	"p.(Leu116Pro)"	"L116P"	"{SNPIDrs569846003: rs569846003}"	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_226a"	"substitution"	"(+)FauI, AciI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_226"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00026"	"06"	"c.347T>C"	"r.(?)"	"p.(Leu116Pro)"	"L116P"	"{SNPIDrs569846003: rs569846003}"	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_275a"	"substitution"	"(+)FauI, AciI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_275"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00026"	"06"	"c.347T>C"	"r.(?)"	"p.(Leu116Pro)"	"L116P"	"{SNPIDrs569846003: rs569846003}"	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_275b"	"substitution"	"(+)FauI, AciI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_275"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00026"	"06"	"c.347T>C"	"r.(?)"	"p.(Leu116Pro)"	"L116P"	"{SNPIDrs569846003: rs569846003}"	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_270b"	"substitution"	"(+)FauI, AciI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_270"	"AKU"	"submitted, Dr. Jeannette Usher"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00026"	"06"	"c.347T>C"	"r.(?)"	"p.(Leu116Pro)"	"L116P"	"{SNPIDrs569846003: rs569846003}"	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_392a"	"substitution"	"(+)FauI, AciI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_392"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00027"	"06"	"c.357dupG"	"r.(?)"	"p.(Cys120Valfs*9)"	"C120fs"	""	"frameshift"	""	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_PHO_8"	"insertion"	"(+)BslI ?"	""	"DNA"	"SEQ"	"exon"	"AKU_PHO_8"	"AKU"	"{PMID12501223: Phornphutkul et al. (2002)}"	"?"	"1"	"USA"	"1"	"1"
"AKU_00028"	"06"	"c.359G>T"	"r.(?)"	"p.(Cys120Phe)"	"C120F"	"{SNPIDrs752153829: rs752153829}"	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_13a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_13"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00028"	"06"	"c.359G>T"	"r.(?)"	"p.(Cys120Phe)"	"C120F"	"{SNPIDrs752153829: rs752153829}"	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_18a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_18"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00028"	"06"	"c.359G>T"	"r.(?)"	"p.(Cys120Phe)"	"C120F"	"{SNPIDrs752153829: rs752153829}"	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_28a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_28"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00028"	"06"	"c.359G>T"	"r.(?)"	"p.(Cys120Phe)"	"C120F"	"{SNPIDrs752153829: rs752153829}"	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_30b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_30"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00028"	"06"	"c.359G>T"	"r.(?)"	"p.(Cys120Phe)"	"C120F"	"{SNPIDrs752153829: rs752153829}"	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_32b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_32"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00028"	"06"	"c.359G>T"	"r.(?)"	"p.(Cys120Phe)"	"C120F"	"{SNPIDrs752153829: rs752153829}"	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_49b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_49"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00028"	"06"	"c.359G>T"	"r.(?)"	"p.(Cys120Phe)"	"C120F"	"{SNPIDrs752153829: rs752153829}"	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_51b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_51"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00028"	"06"	"c.359G>T"	"r.(?)"	"p.(Cys120Phe)"	"C120F"	"{SNPIDrs752153829: rs752153829}"	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_55a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_55"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00028"	"06"	"c.359G>T"	"r.(?)"	"p.(Cys120Phe"	"C120F"	"{SNPIDrs752153829: rs752153829}"	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_65a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_65"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00028"	"06"	"c.359G>T"	"r.(?)"	"p.(Cys120Phe)"	"C120F"	"{SNPIDrs752153829: rs752153829}"	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_68a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_68"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00028"	"06"	"c.359G>T"	"r.(?)"	"p.(Cys120Phe)"	"C120F"	"{SNPIDrs752153829: rs752153829}"	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_DB_120a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_120"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"2"	"1"
"AKU_00028"	"06"	"c.359G>T"	"r.(?)"	"p.(Cys120Phe)"	"C120F"	"{SNPIDrs752153829: rs752153829}"	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_DB_203a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_203"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00028"	"06"	"c.359G>T"	"r.(?)"	"p.(Cys120Phe)"	"C120F"	"{SNPIDrs752153829: rs752153829}"	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_DB_218a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_218"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00028"	"06"	"c.359G>T"	"r.(?)"	"p.(Cys120Phe)"	"C120F"	"{SNPIDrs752153829: rs752153829}"	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_DB_218b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_218"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00028"	"06"	"c.359G>T"	"r.(?)"	"p.(Cys120Phe)"	"C120F"	"{SNPIDrs752153829: rs752153829}"	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_DB_227b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_227"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom/France"	"1"	"1"
"AKU_00028"	"06"	"c.359G>T"	"r.(?)"	"p.(Cys120Phe)"	"C120F"	"{SNPIDrs752153829: rs752153829}"	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_TR2_0121a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0121"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Wales"	"1"	"1"
"AKU_00028"	"06"	"c.359G>T"	"r.(?)"	"p.(Cys120Phe)"	"C120F"	"{SNPIDrs752153829: rs752153829}"	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_TR2_0121b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0121"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Wales"	"1"	"1"
"AKU_00029"	"06"	"c.360T>G"	"r.(?)"	"p.(Cys120Trp)"	"C120W"	"{SNPIDrs149165166: rs149165166}"	"missense"	"Protomer destabilisation"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	""	"AKU_DB_73a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_73"	"AKU"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	"Homozygot"	"1"	"Dominican republic"	"1"	"1"
"AKU_00029"	"06"	"c.360T>G"	"r.(?)"	"p.(Cys120Trp)"	"C120W"	"{SNPIDrs149165166: rs149165166}"	"missense"	"Protomer destabilisation"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	""	"AKU_DB_73b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_73"	"AKU"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	"Homozygot"	"1"	"Dominican republic"	"1"	"1"
"AKU_00029"	"06"	"c.360T>G"	"r.(?)"	"p.(Cys120Trp)"	"C120W"	"{SNPIDrs149165166: rs149165166}"	"missense"	"Protomer destabilisation"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	""	"AKU_DB_74a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_74"	"AKU"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	"Homozygot"	"1"	"Dominican republic"	"1"	"1"
"AKU_00029"	"06"	"c.360T>G"	"r.(?)"	"p.(Cys120Trp)"	"C120W"	"{SNPIDrs149165166: rs149165166}"	"missense"	"Protomer destabilisation"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	""	"AKU_DB_74b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_74"	"AKU"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	"Homozygot"	"1"	"Dominican republic"	"1"	"1"
"AKU_00029"	"06"	"c.360T>G"	"r.(?)"	"p.(Cys120Trp)"	"C120W"	"{SNPIDrs149165166: rs149165166}"	"missense"	"Protomer destabilisation"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	""	"AKU_DB_75a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_75"	"AKU"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	"Homozygot"	"1"	"Dominican republic"	"1"	"1"
"AKU_00029"	"06"	"c.360T>G"	"r.(?)"	"p.(Cys120Trp)"	"C120W"	"{SNPIDrs149165166: rs149165166}"	"missense"	"Protomer destabilisation"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	""	"AKU_DB_75b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_75"	"AKU"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	"Homozygot"	"1"	"Dominican republic"	"1"	"1"
"AKU_00029"	"06"	"c.360T>G"	"r.(?)"	"p.(Cys120Trp)"	"C120W"	"{SNPIDrs149165166: rs149165166}"	"missense"	"Protomer destabilisation"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	""	"AKU_DB_76a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_76"	"AKU"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	"Homozygot"	"1"	"Dominican republic"	"1"	"1"
"AKU_00029"	"06"	"c.360T>G"	"r.(?)"	"p.(Cys120Trp)"	"C120W"	"{SNPIDrs149165166: rs149165166}"	"missense"	"Protomer destabilisation"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	""	"AKU_DB_76b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_76"	"AKU"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	"Homozygot"	"1"	"Dominican republic"	"1"	"1"
"AKU_00029"	"06"	"c.360T>G"	"r.(?)"	"p.(Cys120Trp)"	"C120W"	"{SNPIDrs149165166: rs149165166}"	"missense"	"Protomer destabilisation"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	""	"AKU_DB_78a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_78"	"AKU"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	"Homozygot"	"1"	"Dominican republic"	"1"	"1"
"AKU_00029"	"06"	"c.360T>G"	"r.(?)"	"p.(Cys120Trp)"	"C120W"	"{SNPIDrs149165166: rs149165166}"	"missense"	"Protomer destabilisation"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	""	"AKU_DB_78b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_78"	"AKU"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	"Homozygot"	"1"	"Dominican republic"	"1"	"1"
"AKU_00029"	"06"	"c.360T>G"	"r.(?)"	"p.(Cys120Trp)"	"C120W"	"{SNPIDrs149165166: rs149165166}"	"missense"	"Protomer destabilisation"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	""	"AKU_DB_79a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_79"	"AKU"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	"Homozygot"	"1"	"Dominican republic"	"1"	"1"
"AKU_00029"	"06"	"c.360T>G"	"r.(?)"	"p.(Cys120Trp)"	"C120W"	"{SNPIDrs149165166: rs149165166}"	"missense"	"Protomer destabilisation"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	""	"AKU_DB_79b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_79"	"AKU"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	"Homozygot"	"1"	"Dominican republic"	"1"	"1"
"AKU_00029"	"06"	"c.360T>G"	"r.(?)"	"p.(Cys120Trp)"	"C120W"	"{SNPIDrs149165166: rs149165166}"	"missense"	"Protomer destabilisation"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	""	"AKU_DB_80a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_80"	"AKU"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	"Homozygot"	"1"	"Dominican republic"	"1"	"1"
"AKU_00029"	"06"	"c.360T>G"	"r.(?)"	"p.(Cys120Trp)"	"C120W"	"{SNPIDrs149165166: rs149165166}"	"missense"	"Protomer destabilisation"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	""	"AKU_DB_80b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_80"	"AKU"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	"Homozygot"	"1"	"Dominican republic"	"1"	"1"
"AKU_00029"	"06"	"c.360T>G"	"r.(?)"	"p.(Cys120Trp)"	"C120W"	"{SNPIDrs149165166: rs149165166}"	"missense"	"Protomer destabilisation"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	""	"AKU_VIL_48a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_48"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00029"	"06"	"c.360T>G"	"r.(?)"	"p.(Cys120Trp)"	"C120W"	"{SNPIDrs149165166: rs149165166}"	"missense"	"Protomer destabilisation"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	""	"AKU_VIL_48b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_48"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00250"	"06"	"c.362G>A"	"r.(?)"	"p.(Gly121Glu)"	"G121E"	""	"missense"	"?"	"{PMID32212000: Danda et al. (2020)}"	""	"AKU_DB_380a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_380"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00250"	"06"	"c.362G>A"	"r.(?)"	"p.(Gly121Glu)"	"G121E"	""	"missense"	"?"	"{PMID32212000: Danda et al. (2020)}"	""	"AKU_DB_380a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_380"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00030"	"06"	"c.365C>A"	"r.(?)"	"p.(Ala122Asp)"	"A122D"	"{SNPIDrs1576294110: rs1576294110}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10205262: de Bernabe et al. (1999a)}"	""	"AKU_DB_25a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_25"	"AKU"	"{PMID10205262: de Bernabe et al. (1999a)}"	"Compound heterozygous"	"1"	"The Netherlands"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_49b"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_49"	"AKU"	"{PMID16085442: Ladjouze-Rezig et al. (2006)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_99a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_99"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"India/Canada"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_99b"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_99"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"India/Canada"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_VIL_46a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_46"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA/India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_VIL_47a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_47"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA/India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_VIL_47b"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_47"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA/India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_139a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_139"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Jordan"	"6"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_139b"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_139"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Jordan"	"6"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_140a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_140"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"Jordan"	"2"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_144a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_144"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Jordan"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_144b"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_144"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Jordan"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_145a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_145"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Jordan"	"2"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_191a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_191"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"India"	"2"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_191b"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_191"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"India"	"2"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_TR2_0224b"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0224"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_TR2_0245a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0245"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Jordan"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_TR2_0245b"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0245"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Jordan"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_TR2_0250a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0250"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Jordan"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_TR2_0250b"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0250"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Jordan"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_381b"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_381"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_384a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_384"	"AKU"	"Mwafi et al. 2021"	"Compound heterozygous"	"1"	"Jordan"	"2"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_385a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_385"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_385a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_385"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_386a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_386"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_387a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_387"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_388a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_388"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_388b"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_388"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_390a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_390"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_391a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_391"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_391b"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_391"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_393b"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_393"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_395a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_395"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_395b"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_395"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_397a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_397"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_397b"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_397"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_398a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_398"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_401a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_401"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_401b"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_401"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_402a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_402"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_402b"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_402"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_404a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_404"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_404b"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_404"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_420a"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_420"	"AKU"	"submitted, Dr. Nesrin Mwafi"	"Homozygot"	"1"	"Jordan"	"1"	"1"
"AKU_00031"	"06"	"c.365C>T"	"r.(?)"	"p.(Ala122Val)"	"A122V"	"{SNPIDrs544956641: rs544956641}"	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_420b"	"substitution"	"(-)AluI, BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_420"	"AKU"	"submitted, Dr. Nesrin Mwafi"	"Homozygot"	"1"	"Jordan"	"1"	"1"
"AKU_00032"	"06"	"c.367G>A"	"r.(?)"	"p.(Gly123Arg)"	"G123R"	"{SNPIDrs564979861: rs564979861}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_87a"	"substitution"	"(-)BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_87"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00032"	"06"	"c.367G>A"	"r.(?)"	"p.(Gly123Arg)"	"G123R"	"{SNPIDrs564979861: rs564979861}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_87b"	"substitution"	"(-)BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_87"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00032"	"06"	"c.367G>A"	"r.(?)"	"p.(Gly123Arg)"	"G123R"	"{SNPIDrs564979861: rs564979861}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_DB_132a"	"substitution"	"(-)BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_132"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00032"	"06"	"c.367G>A"	"r.(?)"	"p.(Gly123Arg)"	"G123R"	"{SNPIDrs564979861: rs564979861}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_DB_209a"	"substitution"	"(-)BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_209"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00032"	"06"	"c.367G>A"	"r.(?)"	"p.(Gly123Arg)"	"G123R"	"{SNPIDrs564979861: rs564979861}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_DB_274a"	"substitution"	"(-)BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_274"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00032"	"06"	"c.367G>A"	"r.(?)"	"p.(Gly123Arg)"	"G123R"	"{SNPIDrs564979861: rs564979861}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_DB_274b"	"substitution"	"(-)BpmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_274"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00033"	"06"	"c.368G>C"	"r.(?)"	"p.(Gly123Ala)"	"G123A"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_113a"	"substitution"	"(-)BpmI; (+)PstI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_113"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Algeria"	"2"	"1"
"AKU_00033"	"06"	"c.368G>C"	"r.(?)"	"p.(Gly123Ala)"	"G123A"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_113b"	"substitution"	"(-)BpmI; (+)PstI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_113"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Algeria"	"2"	"1"
"AKU_00033"	"06"	"c.368G>C"	"r.(?)"	"p.(Gly123Ala)"	"G123A"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_117a"	"substitution"	"(-)BpmI; (+)PstI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_117"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Algeria"	"1"	"1"
"AKU_00033"	"06"	"c.368G>C"	"r.(?)"	"p.(Gly123Ala)"	"G123A"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_117b"	"substitution"	"(-)BpmI; (+)PstI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_117"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Algeria"	"1"	"1"
"AKU_00033"	"06"	"c.368G>C"	"r.(?)"	"p.(Gly123Ala)"	"G123A"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_118a"	"substitution"	"(-)BpmI; (+)PstI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_118"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Algeria"	"1"	"1"
"AKU_00033"	"06"	"c.368G>C"	"r.(?)"	"p.(Gly123Ala)"	"G123A"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_118b"	"substitution"	"(-)BpmI; (+)PstI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_118"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Algeria"	"1"	"1"
"AKU_00033"	"06"	"c.368G>C"	"r.(?)"	"p.(Gly123Ala)"	"G123A"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_181a"	"substitution"	"(-)BpmI; (+)PstI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_181"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Algeria"	"3"	"1"
"AKU_00033"	"06"	"c.368G>C"	"r.(?)"	"p.(Gly123Ala)"	"G123A"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_181b"	"substitution"	"(-)BpmI; (+)PstI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_181"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Algeria"	"3"	"1"
"AKU_00033"	"06"	"c.368G>C"	"r.(?)"	"p.(Gly123Ala)"	"G123A"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_200a"	"substitution"	"(-)BpmI; (+)PstI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_200"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Algeria"	"1"	"1"
"AKU_00033"	"06"	"c.368G>C"	"r.(?)"	"p.(Gly123Ala)"	"G123A"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_200b"	"substitution"	"(-)BpmI; (+)PstI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_200"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Algeria"	"1"	"1"
"AKU_00033"	"06"	"c.368G>C"	"r.(?)"	"p.(Gly123Ala)"	"G123A"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_TR2_0312a"	"substitution"	"(-)BpmI; (+)PstI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0312"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Morocco"	"1"	"1"
"AKU_00033"	"06"	"c.368G>C"	"r.(?)"	"p.(Gly123Ala)"	"G123A"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_TR2_0312b"	"substitution"	"(-)BpmI; (+)PstI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0312"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Morocco"	"1"	"1"
"AKU_00033"	"06"	"c.368G>C"	"r.(?)"	"p.(Gly123Ala)"	"G123A"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_TR2_0136a"	"substitution"	"(-)BpmI; (+)PstI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0136"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"France/Algeria"	"1"	"1"
"AKU_00033"	"06"	"c.368G>C"	"r.(?)"	"p.(Gly123Ala)"	"G123A"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_TR2_0136a"	"substitution"	"(-)BpmI; (+)PstI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0136"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"France/Algeria"	"1"	"1"
"AKU_00222"	"06"	"c.372C>T"	"r.(?)"	"p.(Asp124Asp)"	"D124D"	"{SNPIDrs140977117: rs140977117}"	"silent/polymorphism - no effect on splicing"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_287d"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_287"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"3"	"1"
"AKU_00034"	"06"	"c.376_377delAA"	"r.(?)"	"p.(Lys126Valfs*2)"	"K126fs"	"{SNPIDrs1057516976: rs1057516976}"	"frameshift"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_50a"	"deletion"	"(+)Tth111I; (-)AhdI "	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_50"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00034"	"06"	"c.376_377delAA"	"r.(?)"	"p.(Lys126Valfs*2)"	"K126fs"	"{SNPIDrs1057516976: rs1057516976}"	"frameshift"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_50b"	"deletion"	"(+)Tth111I; (-)AhdI "	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_50"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00035"	"06"	"c.407T>A"	"r.(?)"	"p.(Phe136Tyr)"	"F136Y"	""	"missense"	"Protomer destabilisation"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_PHO_9"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_PHO_9"	"AKU"	"{PMID12501223: Phornphutkul et al. (2002)}"	"?"	"1"	"USA"	"1"	"1"
"AKU_00036"	"06"	"c.410T>C"	"r.(?)"	"p.(Leu137Pro)"	"L137P"	""	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_17b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_17"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00036"	"06"	"c.410T>C"	"r.(?)"	"p.(Leu137Pro)"	"L137P"	""	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_61a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_61"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00036"	"06"	"c.410T>C"	"r.(?)"	"p.(Leu137Pro)"	"L137P"	""	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_61b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_61"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00232"	"06"	"c.413G>A"	"r.(?)"	"p.(Cys138Tyr)"	"C138Y"	"{SNPIDrs1941316527: rs1941316527}"	"missense"	"Protomer destabilisation"	"{PMID34504318: Soltysova et al. (2021)}, {PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_334b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_334"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00037"	"06"	"c.413_434+35del"	"r.(?)"	"p.(Gly115Metfs*33)"	"G115fs (?), c.413_434+35del57"	"{SNPIDrs762629587: rs762629587}"	"deletion/exon skipping/frameshift?"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_20a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_20"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00037"	"06"	"c.413_434+35del"	"r.(?)"	"p.(Cys138Tyrfs*11)"	"c.413_434+35del57"	"{SNPIDrs762629587: rs762629587}"	"deletion/exon skipping/frameshift?"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_85a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_85"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00038"	"06"	"c.429G>Y (C,T)"	"r.(?)"	"p.(Glu143Asp)"	"E143D"	""	"missense/polymorphism?;  exact nt change was not indicated and not reconstructible"	"unknown"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_PHO_10"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_PHO_10"	"AKU"	"{PMID12501223: Phornphutkul et al. (2002)}"	"?"	"1"	"USA"	"1"	"1"
"AKU_00039"	"06"	"c.433A>T"	"r.(?)"	"p.(Arg145*)"	"R145*"	""	"nonsense"	""	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_PHO_11"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_PHO_11"	"AKU"	"{PMID12501223: Phornphutkul et al. (2002)}"	"?"	"1"	"USA"	"1"	"1"
"AKU_00120"	"06i"	"c.434+46C>A"	"r.(?)"	"p.(?)"	"ivs6+46C>A"	"{SNPIDrs3817627: rs3817627}"	"polymorphism"	""	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_POL_14"	"substitution"	""	"0,31(A)"	"DNA"	"SEQ"	"intron"	"AKU_POL_14"	""	"{PMID9529363: de Bernabe et al. (1998)}"	""	"1"	""	"1"	"1"
"AKU_00155"	"07"	"c.440T>C"	"r.(?)"	"p.(Phe147Ser)"	"F147S"	""	"missense"	"Protomer destabilisation"	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_180b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_180"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00155"	"07"	"c.440T>C"	"r.(?)"	"p.(Phe147Ser)"	"F147S"	""	"missense"	"Protomer destabilisation"	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_TR2_0318b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0318"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00040"	"07"	"c.447T>A"	"r.(?)"	"p.(Asn149Lys)"	"N149K"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_36a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_36"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00181"	"07"	"c.449C>T"	"r.(?)"	"p.(Ser150Leu)"	"S150L"	""	"missense"	"Hexamer disruption"	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR2_0105b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0105"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Sweeden"	"1"	"1"
"AKU_00174"	"07"	"c.454G>A"	"r.(?)"	"p.(Gly152Arg)"	"G152R"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID30737480: Ascher et al. (2019)}"	"CCC triplet"	"AKU_TR2_0257b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0257"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Austria"	"1"	"1"
"AKU_00041"	"07"	"c.455G>C"	"r.(?)"	"p.(Gly152Ala)"	"G152A"	"{SNPIDrs1553717936: rs1553717936}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID23430897: Zatkova et al. (2012)}"	"CCC triplet"	"AKU_DB_100b"	"substitution"	"(-)BsmFI; (+)AciI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_100"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"South Korea"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_101a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_101"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_103a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_103"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_28a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_28"	"AKU"	"{PMID10819641: Porfirio et al. (2000)}"	"Homozygot"	"1"	"Italy"	"2"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_28b"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_28"	"AKU"	"{PMID10819641: Porfirio et al. (2000)}"	"Homozygot"	"1"	"Italy"	"2"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_39a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_39"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Homozygot"	"1"	"France"	"2"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_39b"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_39"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Homozygot"	"1"	"France"	"2"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_50a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_50"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_51c"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_51"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_55a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_55"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Homozygot"	"1"	"Slovakia"	"2"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_55b"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_55"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Homozygot"	"1"	"Slovakia"	"2"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_58a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_58"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_60a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_60"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_60b"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_60"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_61a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_61"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_61a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_61"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_70a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_70"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_70b"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_70"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_71b"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_71"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_97a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_97"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"France/Algeria"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_SRS_14b"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_14"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_VIL_38a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_38"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_VIL_84a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_84"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_VIL_84b"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_84"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_ZAT_2a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_ZAT_2"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_147a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_147"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_151a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_151"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Macedonia"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_151b"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_151"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Macedonia"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_179b"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_179"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_229a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_229"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_237a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_237"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_241b"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_241"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_251b"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_251"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Compound heterozygous"	"1"	"Italy"	"2"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_277a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_277"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0129c"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0129"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Romania"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0317b"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0317"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France/Vietnam"	"2"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0204a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0204"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0204b"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0204"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0219a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0219"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0226a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0226"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0226b"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0226"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_318a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_318"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00042"	"07"	"c.457dupG"	"r.(?)"	"p.(Asp153Glyfs*26)"	"D153fs (G152fs)"	"{SNPIDrs397515346: rs397515346}"	"frameshift"	""	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_370a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_370"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00205"	"07"	"c.457G>A"	"r.(?)"	"p.(Asp153Asn)"	"D153N"	""	"missense"	"Protomer destabilisation"	"submitted, Dr. Jeannette Usher"	"CCC triplet"	"AKU_DB_253a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_253"	"AKU"	"submitted, Dr. Jeannette Usher"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00043"	"07"	"c.458A>G"	"r.(?)"	"p.(Asp153Gly)"	"D153G"	""	"missense"	"Protomer destabilisation"	"{PMID9529363: de Bernabe et al. (1998)}"	"CCC triplet"	"AKU_DB_13a"	"substitution"	"(-)BsmFI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_13"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00043"	"07"	"c.458A>G"	"r.(?)"	"p.(Asp153Gly)"	"D153G"	""	"missense"	"Protomer destabilisation"	"{PMID9529363: de Bernabe et al. (1998)}"	"CCC triplet"	"AKU_DB_33b"	"substitution"	"(-)BsmFI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_33"	"AKU"	"{PMID11001939: Rodriguez et al. (2000)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00043"	"07"	"c.458A>G"	"r.(?)"	"p.(Asp153Gly)"	"D153G"	""	"missense"	"Protomer destabilisation"	"{PMID9529363: de Bernabe et al. (1998)}"	"CCC triplet"	"AKU_TR2_0138b"	"substitution"	"(-)BsmFI "	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0138"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00043"	"07"	"c.458A>G"	"r.(?)"	"p.(Asp153Gly)"	"D153G"	""	"missense"	"Protomer destabilisation"	"{PMID9529363: de Bernabe et al. (1998)}"	"CCC triplet"	"AKU_DB_321b"	"substitution"	"(-)BsmFI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_321"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00206"	"07"	"c.469G>T"	"r.(?)"	"p.(Val157Phe)"	"V157F"	""	"missense"	"Protomer destabilisation"	"submitted, Dr. Jeannette Usher"	""	"AKU_DB_254a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_254"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00206"	"07"	"c.469G>T"	"r.(?)"	"p.(Val157Phe)"	"V157F"	""	"missense"	"Protomer destabilisation"	"submitted, Dr. Jeannette Usher"	""	"AKU_DB_254b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_254"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00206"	"07"	"c.469G>T"	"r.(?)"	"p.(Val157Phe)"	"V157F"	""	"missense"	"Protomer destabilisation"	"submitted, Dr. Jeannette Usher"	""	"AKU_DB_405a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_405"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00158"	"07i"	"c.469+1G>C"	"r.(spl?)"	"p.(Arg145Serfs*22)"	"ivs7+1G>C"	"{SNPIDrs1260545974: rs1260545974}"	"aberrant splicing (DS)/exon skipping, frameshift?"	""	"{PMID23353776: Yang et al. (2013)}"	""	"AKU_DB_163b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_163"	"AKU"	"{PMID23353776: Yang et al. (2013)}"	"Compound heterozygous"	"1"	"China"	"1"	"1"
"AKU_00044"	"07i"	"c.469+2T>C"	"r.(spl?)"	"p.(Arg145Serfs*22)"	"ivs7+2T>C"	"{SNPIDrs745333667: rs745333667}"	"aberrant splicing (DS)/exon skipping/frameshift?"	""	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_96a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_96"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00044"	"07i"	"c.469+2T>C"	"r.(spl?)"	"p.(Arg145Serfs*22)"	"ivs7+2T>C"	"{SNPIDrs745333667: rs745333667}"	"aberrant splicing (DS)/exon skipping/frameshift?"	""	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_VIL_1a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_VIL_1"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00044"	"07i"	"c.469+2T>C"	"r.(spl?)"	"p.(Arg145Serfs*22)"	"ivs7+2T>C"	"{SNPIDrs745333667: rs745333667}"	"aberrant splicing (DS)/exon skipping/frameshift?"	""	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_122a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_122"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00044"	"07i"	"c.469+2T>C"	"r.(spl?)"	"p.(Arg145Serfs*22)"	"ivs7+2T>C"	"{SNPIDrs745333667: rs745333667}"	"aberrant splicing (DS)/exon skipping/frameshift?"	""	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_170a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_170"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00044"	"07i"	"c.469+2T>C"	"r.(spl?)"	"p.(Arg145Serfs*22)"	"ivs7+2T>C"	"{SNPIDrs745333667: rs745333667}"	"aberrant splicing (DS)/exon skipping/frameshift?"	""	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_179a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_179"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00044"	"07i"	"c.469+2T>C"	"r.(spl?)"	"p.(Arg145Serfs*22)"	"ivs7+2T>C"	"{SNPIDrs745333667: rs745333667}"	"aberrant splicing (DS)/exon skipping/frameshift"	""	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_267b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_267"	"AKU"	"submitted, Dr. Jeannette Usher"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00045"	"07i"	"c.469+5G>A"	"r.(spl?)"	"p.(Arg145Serfs*22)"	"ivs7+5G>A"	""	"aberrant splicing (DS)/exon skipping/frameshift?"	""	"{PMID10819641: Porfirio et al. (2000)}"	""	"AKU_DB_27a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_27"	"AKU"	"{PMID10819641: Porfirio et al. (2000)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00045"	"07i"	"c.469+5G>A"	"r.(spl?)"	"p.(Arg145Serfs*22)"	"ivs7+5G>A"	""	"aberrant splicing (DS)/exon skipping/frameshift?"	""	"{PMID10819641: Porfirio et al. (2000)}"	""	"AKU_DB_164a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_164"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"2"	"1"
"AKU_00045"	"07i"	"c.469+5G>A"	"r.(spl?)"	"p.(Arg145Serfs*22)"	"ivs7+5G>A"	""	"aberrant splicing (DS)/exon skipping/frameshift?"	""	"{PMID10819641: Porfirio et al. (2000)}"	""	"AKU_DB_164b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_164"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"2"	"1"
"AKU_00045"	"07i"	"c.469+5G>A"	"r.(spl?)"	"p.(Arg145Serfs*22)"	"ivs7+5G>A"	""	"aberrant splicing (DS)/exon skipping/frameshift?"	""	"{PMID10819641: Porfirio et al. (2000)}"	""	"AKU_DB_182a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_182"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00045"	"07i"	"c.469+5G>A"	"r.(spl?)"	"p.(Arg145Serfs*22)"	"ivs7+5G>A"	""	"aberrant splicing (DS)/exon skipping/frameshift?"	""	"{PMID10819641: Porfirio et al. (2000)}"	""	"AKU_DB_182b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_182"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00159"	"07i"	"c.469+6T>C"	"r.(spl?)"	"p.(Arg145Serfs*22)"	"ivs7+6T>C"	""	"aberrant splicing (DS)/exon skipping, frameshift?"	""	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_186a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_186"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00159"	"07i"	"c.469+6T>C"	"r.(spl?)"	"p.(Arg145Serfs*22)"	"ivs7+6T>C"	""	"aberrant splicing (DS)/exon skipping, frameshift?"	""	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_186b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_186"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00159"	"07i"	"c.469+6T>C"	"r.(spl?)"	"p.(Arg145Serfs*22)"	"ivs7+6T>C"	""	"aberrant splicing (DS)/exon skipping, frameshift?"	""	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_187a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_187"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00159"	"07i"	"c.469+6T>C"	"r.(spl?)"	"p.(Arg145Serfs*22)"	"ivs7+6T>C"	""	"aberrant splicing (DS)/exon skipping, frameshift?"	""	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_187b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_187"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00159"	"07i"	"c.469+6T>C"	"r.(spl?)"	"p.(Arg145Serfs*22)"	"ivs7+6T>C"	""	"aberrant splicing (DS)/exon skipping, frameshift?"	""	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_389a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_389"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00159"	"07i"	"c.469+6T>C"	"r.(spl?)"	"p.(Arg145Serfs*22)"	"ivs7+6T>C"	""	"aberrant splicing (DS)/exon skipping, frameshift?"	""	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_389b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_389"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00131"	"07i"	"c.469+24C>A"	"r.(?)"	"p.(?)"	"ivs7+24C>A"	"{SNPIDrs756912701: rs756912701}"	"polymorphism"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_POL_25"	"substitution"	""	"0,013(A)"	"DNA"	"SEQ"	"intron"	"AKU_POL_25"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"1"	""	"1"	"1"
"AKU_00262"	"07i"	"c.469+24C>A"	"r.(?)"	"p.(?)"	"ivs7+24C>A"	"{SNPIDrs756912701: rs756912701}"	"polymorphism?/aberrant splicing?"	""	"submitted, Dr. Andrea Zatkova"	""	"AKU_DB_436b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_436"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Compound heterozygous"	"1"	"Ireland"	"1"	"1"
"AKU_00225"	"07i"	"c.470-1G>A"	"r.(?)"	"p.(Val157Serfs*21)"	"ivs7-1G>A"	""	"aberrant splicing (AS)/exon skipping"	""	"{PMID34504318: Soltysova et al. (2021)}"	""	"AKU_DB_296b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_296"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00046"	"08"	"c.470-1_470insA"	"r.(?)"	"p.(Val157Aspfs*22)"	"V157fs"	""	"frameshift"	""	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_110b"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_110"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"France/Bosnia"	"1"	"1"
"AKU_00145"	"08"	"c.472_496del"	"r.(?)"	"p.(Pro158Thrfs*25)"	"P158fs; before c.470-1_494del25;p.(Val157Glufs*11)"	""	"deletion/exon skipping/frameshift?"	""	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_123b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_123"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"2"	"1"
"AKU_00047"	"08"	"c.473C>G"	"r.(?)"	"p.(Pro158Arg)"	"P158R"	""	"missense"	"Protomer destabilisation"	"{PMID12501223: Phornphutkul et al. (2002)}"	"CpG"	"AKU_PHO_13"	"substitution"	"(-)BslI, AciI"	""	"DNA"	"SEQ"	"exon"	"AKU_PHO_13"	"AKU"	"{PMID12501223: Phornphutkul et al. (2002)}"	"?"	"1"	"USA"	"1"	"1"
"AKU_00048"	"08"	"c.473C>T"	"r.(?)"	"p.(Pro158Leu)"	"P158L"	"{SNPIDrs375396766: rs375396766}"	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	"CpG"	"AKU_VIL_3b"	"substitution"	"(+)PstI, SfcI; (-)BslI, AciI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_3"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00048"	"08"	"c.473C>T"	"r.(?)"	"p.(Pro158Leu)"	"P158L"	"{SNPIDrs375396766: rs375396766}"	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	"CpG"	"AKU_DB_116a"	"substitution"	"(+)PstI, SfcI; (-)BslI, AciI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_116"	"AKU"	"{PMID21822197: Gucev et al. (2011)}"	"Compound heterozygous"	"1"	"Macedonia"	"1"	"1"
"AKU_00048"	"08"	"c.473C>T"	"r.(?)"	"p.(Pro158Leu)"	"P158L"	"{SNPIDrs375396766: rs375396766}"	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	"CpG"	"AKU_DB_197b"	"substitution"	"(+)PstI, SfcI; (-)BslI, AciI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_197"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Canada"	"1"	"1"
"AKU_00048"	"08"	"c.473C>T"	"r.(?)"	"p.(Pro158Leu)"	"P158L"	"{SNPIDrs375396766: rs375396766}"	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	"CpG"	"AKU_DB_423a"	"substitution"	"(+)PstI, SfcI; (-)BslI, AciI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_423"	"AKU"	"{PMID34686677: Lee et al. (2022)}"	"Compound heterozygous"	"1"	"Taiwan"	"1"	"1"
"AKU_00048"	"08"	"c.473C>T"	"r.(?)"	"p.(Pro158Leu)"	"P158L"	"{SNPIDrs375396766: rs375396766}"	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	"CpG"	"AKU_DB_443a"	"substitution"	"(+)PstI, SfcI; (-)BslI, AciI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_443"	"AKU"	"{PMID37658095: Abdelkhalek et al. (2023)}"	"Homozygot"	"1"	"Egypt"	"1"	"1"
"AKU_00048"	"08"	"c.473C>T"	"r.(?)"	"p.(Pro158Leu)"	"P158L"	"{SNPIDrs375396766: rs375396766}"	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	"CpG"	"AKU_DB_443b"	"substitution"	"(+)PstI, SfcI; (-)BslI, AciI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_443"	"AKU"	"{PMID37658095: Abdelkhalek et al. (2023)}"	"Homozygot"	"1"	"Egypt"	"1"	"1"
"AKU_00132"	"08"	"c.474G>T"	"r.(?)"	"p.(Pro158Pro)"	"P158P"	"{SNPIDrs2293734: rs2293734}"	"silent/polymorphism"	""	"{PMID19862842: Vilboux et al. (2009)}"	"CpG"	"AKU_POL_26"	"substitution"	"(+)EcoNI, DdeI, MnlI; (-)AciI"	""	"DNA"	"SEQ"	"exon"	"AKU_POL_26"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"1"	""	"1"	"1"
"AKU_00049"	"08"	"c.477G>Y (C,T)"	"r.(?)"	"p.(Gln159His)"	"Q159H"	""	"missense;  exact nt change was not indicated and not reconstructible"	"Protomer destabilisation"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_PHO_14"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_PHO_14"	"AKU"	"{PMID12501223: Phornphutkul et al. (2002)}"	"?"	"1"	"USA"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_101b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_101"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_102a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_102"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_104a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_104"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Slovakia"	"4"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_104b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_104"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Slovakia"	"4"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_104c"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_104"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Slovakia"	"4"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_104d"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_104"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Slovakia"	"4"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_105a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_105"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_105b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_105"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_106a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_106"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_106b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_106"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_110a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_110"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"France/Bosnia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_41b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_41"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_45b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_45"	"AKU"	"{PMID11001939: Rodriguez et al. (2000)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_53d"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_53"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"7"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_57b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_57"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_58b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_58"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_59a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_59"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_61b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_61"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_62a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_62"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_62b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_62"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_63a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_63"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Homozygot"	"1"	"Slovakia"	"2"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_63b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_63"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Homozygot"	"1"	"Slovakia"	"2"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_67a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_67"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_81a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_81"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Poland"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_81b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_81"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Poland"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_93a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_93"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_94a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_94"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_MUL_1b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_MUL_1"	"AKU"	"{PMID10482952: Muller et al. (1999)}"	"Compound heterozygous"	"1"	"Czech republic"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_MUL_3b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_MUL_3"	"AKU"	"{PMID10482952: Muller et al. (1999)}"	"Compound heterozygous"	"1"	"Germany"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_MUL_4a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_MUL_4"	"AKU"	"{PMID10482952: Muller et al. (1999)}"	"Compound heterozygous"	"1"	"Czech republic"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_MUL_5b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_MUL_5"	"AKU"	"{PMID10482952: Muller et al. (1999)}"	"Compound heterozygous"	"1"	"Czech republic"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_MUL_6a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_MUL_6"	"AKU"	"{PMID10482952: Muller et al. (1999)}"	"Compound heterozygous"	"1"	"Czech republic"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_SRS_14a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_14"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_SRS_15a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_15"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_SRS_15b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_15"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_SRS_17a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_17"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_SRS_19a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_19"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_SRS_2a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_2"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_SRS_20a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_20"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_SRS_20b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_20"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_SRS_21a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_21"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_SRS_21b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_21"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_SRS_3a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_3"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_SRS_8a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_8"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_SRS_8b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_8"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_SRS_9a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_9"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TOT_1a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TOT_1"	"AKU"	"{PMID20462779: Toth et al. (2010)}"	"Homozygot"	"1"	"Slovakia/Hungary"	"3"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TOT_1b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TOT_1"	"AKU"	"{PMID20462779: Toth et al. (2010)}"	"Homozygot"	"1"	"Slovakia/Hungary"	"3"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_VIL_12a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_12"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_VIL_2b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_2"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_VIL_23a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_23"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_VIL_38b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_38"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_VIL_43a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_43"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_VIL_43b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_43"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_VIL_53a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_53"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_VIL_57b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_57"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_VIL_79a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_79"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_VIL_94b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_94"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_ZAT_1a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_ZAT_1"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_ZAT_1b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_ZAT_1"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_115a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_115"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_127a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_127"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_127b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_127"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_128a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_128"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_128a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_128"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_135a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_135"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_135b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_135"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_136a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_136"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_137b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_137"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_142b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_142"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_149a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_149"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_150a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_150"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_165a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_165"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_180a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_180"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_188a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_188"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Germany"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_190a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_190"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_190b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_190"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_161a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_161"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Lithuania"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_161b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_161"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Lithuania"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_162a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_162"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Lithuania"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_162b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_162"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Lithuania"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR_0212a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR_0212"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_221b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_221"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0257a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0257"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Austria"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0127a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0127"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Poland"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0105a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0105"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Sweeden"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0311b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0311"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France"	"2"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_235a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_235"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0318a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0318"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_236a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_236"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Italy"	"2"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_236b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_236"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Italy"	"2"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_241a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_241"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0107a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0107"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Denmark"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0107b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0107"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Denmark"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0110a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0110"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Poland"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0114a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0114"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Serbia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0120a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0120"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Romania"	"2"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0120b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0120"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Romania"	"2"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0140b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0140"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Poland"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0202a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0202"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0202b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0202"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0208a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0208"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0209a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0209"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0215a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0215"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Slovakia"	"2"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0215b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0215"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Slovakia"	"2"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0215a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0215"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Slovakia"	"2"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0215c"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0215"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Slovakia"	"2"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0223a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0223"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Hungary"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0228a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0228"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0230a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0230"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0230b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0230"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0231a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0231"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Hungary"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0231b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0231"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Hungary"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0233a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0233"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0234a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0234"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0237b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0237"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0258a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0258"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Poland"	"2"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0260a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0260"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0260b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0260"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0261a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0261"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR2_0263a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0263"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_286a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_286"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_286b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_286"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_290a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_290"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_290b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_290"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_292a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_292"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_293a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_293"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_293b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_293"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_294a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_294"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_294b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_294"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_295a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_295"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_295b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_295"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_296a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_296"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_297a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_297"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_298a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_298"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_300a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_300"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"2"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_300b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_300"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"2"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_302a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_302"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_302b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_302"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_303a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_303"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"2"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_303b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_303"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"2"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_304a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_304"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_304b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_304"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_306a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_306"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_310a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_310"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_310b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_310"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_311a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_311"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_312a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_312"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_312b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_312"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_313a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_313"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_314a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_314"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_315a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_315"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_317a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_317"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_319a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_319"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_320a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_320"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"2"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_321a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_321"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_322a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_322"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_322b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_322"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_323a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_323"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_324a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_324"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_325a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_325"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_326a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_326"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_328a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_328"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"3"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_328b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_328"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"3"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_330a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_330"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_331a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_331"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_333a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_333"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_334a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_334"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_335a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_335"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_336a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_336"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_354a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_354"	"AKU"	"Akbaba et al. 2020"	"Compound heterozygous"	"1"	"Turkey"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_357a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_357"	"AKU"	"Akbaba et al. 2020"	"Compound heterozygous"	"1"	"Turkey"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_366a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_366"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_366b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_366"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_367a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_367"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_368a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_368"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_369a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_369"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_369b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_369"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_370a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_370"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_371a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_371"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_371b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_371"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_372a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_372"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_373a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_373"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_373b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_373"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_374a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_374"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_374b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_374"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_375a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_375"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_375b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_375"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_376a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_376"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_376b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_376"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_377a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_377"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_377b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_377"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_378a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_378"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TU_33a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TU_33"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TU_33b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TU_33"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TU_37a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TU_37"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Compound heterozygous"	"1"	"Turkey"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_409a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_409"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_410a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_410"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_411a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_411"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_412a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_412"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_413a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_413"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_414a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_414"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_415a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_415"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_416a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_416"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_417a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_417"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_418a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_418"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_419a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_419"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_426a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_426"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_426b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_426"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_427a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_427"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_427b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_427"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_428a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_428"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_428b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_428"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_429a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_429"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR3_0123a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR3_0123"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Poland"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_TR3_0123b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR3_0123"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Poland"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_449a"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_449"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00050"	"08"	"c.481G>A"	"r.(?)"	"p.(Gly161Arg)"	"G161R"	"{SNPIDrs28941783: rs28941783}"	"missense"	"Protomer destabilisation"	"{PMID9154114: Gehrig et al. (1997)}"	"CCC triplet"	"AKU_DB_449b"	"substitution"	"(-)BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_449"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00161"	"08"	"c.500C>T"	"r.(?)"	"p.(Thr167Ile)"	"T167I"	""	"missense"	"Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_TR_0212b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR_0212"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00051"	"08"	"c.502G>A"	"r.(?)"	"p.(Glu168Lys)"	"E168K"	"{SNPIDrs375283568: rs375283568}"	"missense"	"Hexamer disruption"	"{PMID9630082: Higashino et al. (1998)}"	"CpG"	"AKU_HIG_1a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_HIG_1"	"AKU"	"{PMID9630082: Higashino et al. (1998)}"	"Homozygot"	"1"	"Japan"	"1"	"1"
"AKU_00051"	"08"	"c.502G>A"	"r.(?)"	"p.(Glu168Lys)"	"E168K"	"{SNPIDrs375283568: rs375283568}"	"missense"	"Hexamer disruption"	"{PMID9630082: Higashino et al. (1998)}"	"CpG"	"AKU_HIG_1b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_HIG_1"	"AKU"	"{PMID9630082: Higashino et al. (1998)}"	"Homozygot"	"1"	"Japan"	"1"	"1"
"AKU_00051"	"08"	"c.502G>A"	"r.(?)"	"p.(Glu168Lys)"	"E168K"	"{SNPIDrs375283568: rs375283568}"	"missense"	"Hexamer disruption"	"{PMID9630082: Higashino et al. (1998)}"	"CpG"	"AKU_VIL_7a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_7"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00051"	"08"	"c.502G>A"	"r.(?)"	"p.(Glu168Lys)"	"E168K"	"{SNPIDrs375283568: rs375283568}"	"missense"	"Hexamer disruption"	"{PMID9630082: Higashino et al. (1998)}"	"CpG"	"AKU_VIL_7b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_7"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00051"	"08"	"c.502G>A"	"r.(?)"	"p.(Glu168Lys)"	"E168K"	"{SNPIDrs375283568: rs375283568}"	"missense"	"Hexamer disruption"	"{PMID9630082: Higashino et al. (1998)}"	"CpG"	"AKU_VIL_89a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_89"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00051"	"08"	"c.502G>A"	"r.(?)"	"p.(Glu168Lys)"	"E168K"	"{SNPIDrs375283568: rs375283568}"	"missense"	"Hexamer disruption"	"{PMID9630082: Higashino et al. (1998)}"	"CpG"	"AKU_VIL_89b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_89"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00051"	"08"	"c.502G>A"	"r.(?)"	"p.(Glu168Lys)"	"E168K"	"{SNPIDrs375283568: rs375283568}"	"missense"	"Hexamer disruption"	"{PMID9630082: Higashino et al. (1998)}"	"CpG"	"AKU_VIL_96b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_96"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00051"	"08"	"c.502G>A"	"r.(?)"	"p.(Glu168Lys)"	"E168K"	"{SNPIDrs375283568: rs375283568}"	"missense"	"Hexamer disruption"	"{PMID9630082: Higashino et al. (1998)}"	"CpG"	"AKU_DB_268a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_268"	"AKU"	"submitted, Dr. Jeannette Usher"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00051"	"08"	"c.502G>A"	"r.(?)"	"p.(Glu168Lys)"	"E168K"	"{SNPIDrs375283568: rs375283568}"	"missense"	"Hexamer disruption"	"{PMID9630082: Higashino et al. (1998)}"	"CpG"	"AKU_TR2_0103a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0103"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Netherland"	"2"	"1"
"AKU_00051"	"08"	"c.502G>A"	"r.(?)"	"p.(Glu168Lys)"	"E168K"	"{SNPIDrs375283568: rs375283568}"	"missense"	"Hexamer disruption"	"{PMID9630082: Higashino et al. (1998)}"	"CpG"	"AKU_TR2_0103b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0103"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Netherland"	"2"	"1"
"AKU_00052"	"08"	"c.502G>T"	"r.(?)"	"p.(Glu168*)"	"E168*"	""	"nonsense"	""	"{PMID19862842: Vilboux et al. (2009)}"	"CpG"	"AKU_VIL_36b"	"substitution"	"(+)BfaI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_36"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00208"	"08"	"c.502G>T"	"r.(?)"	"p.(Glu168*)"	"E168*"	""	"nonsense"	""	"submitted, Dr. Jeannette Usher"	""	"AKU_DB_258a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_258"	"AKU"	"submitted, Dr. Jeannette Usher"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00053"	"08"	"c.504G>C"	"r.(?)"	"p.(Glu168Asp)"	"E168D"	"{SNPIDrs780173554: rs780173554}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	"CpG"	"AKU_VIL_45a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_45"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA/India"	"1"	"1"
"AKU_00053"	"08"	"c.504G>C"	"r.(?)"	"p.(Glu168Asp)"	"E168D"	"{SNPIDrs780173554: rs780173554}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	"CpG"	"AKU_VIL_45b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_45"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA/India"	"1"	"1"
"AKU_00053"	"08"	"c.504G>C"	"r.(?)"	"p.(Glu168Asp)"	"E168D"	"{SNPIDrs780173554: rs780173554}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	"CpG"	"AKU_VIL_83a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_83"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA/India"	"1"	"1"
"AKU_00053"	"08"	"c.504G>C"	"r.(?)"	"p.(Glu168Asp)"	"E168D"	"{SNPIDrs780173554: rs780173554}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	"CpG"	"AKU_VIL_83b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_83"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA/India"	"1"	"1"
"AKU_00053"	"08"	"c.504G>C"	"r.(?)"	"p.(Glu168Asp)"	"E168D"	"{SNPIDrs780173554: rs780173554}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	"CpG"	"AKU_DB_394a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_394"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00053"	"08"	"c.504G>C"	"r.(?)"	"p.(Glu168Asp)"	"E168D"	"{SNPIDrs780173554: rs780173554}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	"CpG"	"AKU_DB_394b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_394"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00144"	"08"	"c.507T>G"	"r.(?)"	"p.(Phe169Leu)"	"F169L"	"{SNPIDrs756134838: rs756134838}"	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_122b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_122"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00195"	"08"	"c.508G>A"	"r.(?)"	"p.(Gly170Ser)"	"G170S"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_231b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_231"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00187"	"08"	"c.509G>C"	"r.(?)"	"p.(Gly170Ala)"	"G170A"	""	"missense"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR2_0331b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0331"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Algeria/Spain"	"1"	"1"
"AKU_00054"	"08"	"c.513G>T"	"r.(?)"	"p.(Lys171Asn)"	"K171N"	""	"missense"	"Protomer destabilisation"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_212a"	"substitution"	"(-)SfaNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_212"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00054"	"08"	"c.513G>T"	"r.(?)"	"p.(Lys171Asn)"	"K171N"	""	"missense"	"Protomer destabilisation"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_212b"	"substitution"	"(-)SfaNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_212"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00054"	"08"	"c.513G>T"	"r.(?)"	"p.(Lys171Asn)"	"K171N"	""	"missense"	"Protomer destabilisation"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_272b"	"substitution"	"(-)SfaNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_272"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00054"	"08"	"c.513G>T"	"r.(?)"	"p.(Lys171Asn)"	"K171N"	""	"missense"	"Protomer destabilisation"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_272a"	"substitution"	"(-)SfaNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_272"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00054"	"08"	"c.513G>Y (C,T)"	"r.(?)"	"p.(Lys171Asn)"	"K171N"	""	"missense;  exact nt change was not indicated and not reconstructible"	"Protomer destabilisation"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_PHO_16"	"substitution"	"(-)SfaNI"	""	"DNA"	"SEQ"	"exon"	"AKU_PHO_16"	"AKU"	"{PMID12501223: Phornphutkul et al. (2002)}"	"?"	"1"	"USA"	"1"	"1"
"AKU_00169"	"08"	"c.515T>C"	"r.(?)"	"p.(Met172Thr)"	"M172T"	""	"missense"	"Protomer destabilisation"	"{PMID25681086: Usher et al. (2015)}"	""	"AKU_DB_207a"	"substitution"	"(+)HgaI;(-)SfaNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_207"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00056"	"08"	"c.533A>G"	"r.(?)"	"p.(Glu178Gly)"	"E178G"	""	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_93b"	"substitution"	"(+)AlwI; (-)BglII"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_93"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00056"	"08"	"c.533A>G"	"r.(?)"	"p.(Glu178Gly)"	"E178G"	""	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_TR2_0223b"	"substitution"	"(+)AlwI; (-)BglII"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0223"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Hungary"	"1"	"1"
"AKU_00056"	"08"	"c.533A>G"	"r.(?)"	"p.(Glu178Gly)"	"E178G"	""	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_447a"	"substitution"	"(+)AlwI; (-)BglII"	""	"DNA"	"NGS"	"exon"	"AKU_DB_447"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Compound heterozygous"	"1"	"Germany"	"1"	"1"
"AKU_00055"	"08"	"c.534G>Y (C,T)"	"r.(?)"	"p.(Glu178Asp)"	"E178D"	""	"missense;  exact nt change was not indicated and not reconstructible"	"Protomer destabilisation"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_PHO_17"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_PHO_17"	"AKU"	"{PMID12501223: Phornphutkul et al. (2002)}"	"?"	"1"	"USA"	"1"	"1"
"AKU_00231"	"08"	"c.536T>G"	"r.(?)"	"p.(Ile179Ser)"	"I179S"	"{SNPIDrs1031569954: rs1031569954}"	"missense"	"Protomer destabilisation"	"{PMID34504318: Soltysova et al. (2021)}, {PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_333b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_333"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00057"	"08"	"c.541G>T"	"r.(?)"	"p.(Val181Phe)"	"V181F"	""	"missense"	"Protomer destabilisation"	"{PMID11001939: Rodriguez et al. (2000)}"	"CpG"	"AKU_DB_44a"	"substitution"	"(-)HgaI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_44"	"AKU"	"{PMID11001939: Rodriguez et al. (2000)}"	"Homozygot"	"1"	"France"	"1"	"1"
"AKU_00057"	"08"	"c.541G>T"	"r.(?)"	"p.(Val181Phe)"	"V181F"	""	"missense"	"Protomer destabilisation"	"{PMID11001939: Rodriguez et al. (2000)}"	"CpG"	"AKU_DB_44b"	"substitution"	"(-)HgaI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_44"	"AKU"	"{PMID11001939: Rodriguez et al. (2000)}"	"Homozygot"	"1"	"France"	"1"	"1"
"AKU_00058"	"08"	"c.549G>T"	"r.(?)"	"p.(Gln183Arg)"	"Q183R"	"{SNPIDrs759615683: rs759615683}"	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_64a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_64"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00059"	"08i"	"c.549+1G>A"	"r.(spl?)"	"p.(Val156Glufs*11)"	"ivs8+1G>A"	""	"aberrant splicing (DS)/exon skipping/frameshift?"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_35a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_35"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00240"	"08i"	"c.549+1G>T"	"r.(?)"	"?"	"ivs8+1G>T"	""	"aberrant splicing (DS)/exon skipping/frameshift?"	""	"{PMID33746036: Kisa et al. (2021)}"	""	"AKU_TU_10a"	"substitution"	"?"	""	"DNA"	"SEQ"	"intron"	"AKU_TU_10"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00240"	"08i"	"c.549+1G>T"	"r.(?)"	"?"	"ivs8+1G>T"	""	"aberrant splicing (DS)/exon skipping/frameshift?"	""	"{PMID33746036: Kisa et al. (2021)}"	""	"AKU_TU_10b"	"substitution"	"?"	""	"DNA"	"SEQ"	"intron"	"AKU_TU_10"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00106"	"08i"	"c.549+31C>T"	"r.(?)"	"p.(?)"	"ivs8+31C>T"	""	"polymorphism"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_POL_35"	"substitution"	""	"0,006(T)"	"DNA"	"SEQ"	"intron"	"AKU_POL_35"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"1"	""	"1"	"1"
"AKU_00060"	"08i"	"c.550-2A>C"	"r.(spl?)"	"p.(Arg184Glyfs*12)"	"ivs8-2A>C"	""	"aberrant splicing (AS)/exon skipping/frameshift?"	""	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_PHO_18"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_PHO_18"	"AKU"	"{PMID12501223: Phornphutkul et al. (2002)}"	"?"	"1"	"USA"	"1"	"1"
"AKU_00060"	"08i"	"c.550-2A>C"	"r.(spl?)"	"p.(Arg184Glyfs*12)"	"ivs8-2A>C"	""	"aberrant splicing (AS)/exon skipping/frameshift?"	""	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_DB_386b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_386"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00180"	"08i"	"c.550-2A>G"	"r.(?)"	"p.(Arg184Glyfs*12)"	"ivs8-2A>G"	""	"aberrant splicing (AS)/exon skipping/frameshift?"	""	"submitted"	""	"AKU_TR2_0102a"	"substitution"	"?"	""	"DNA"	"SEQ"	"intron"	"AKU_TR2_0102"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Romania"	"1"	"1"
"AKU_00185"	"09"	"c.553G>A"	"r.(?)"	"p.(Gly185Arg)"	"G185R"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR2_0321b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0321"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France/Belgium"	"1"	"1"
"AKU_00149"	"09"	"c.557T>A"	"r.(?)"	"p.(Met186Lys)"	"M186K"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_148b"	"substitution"	"(-)BsmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_148"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Brasil"	"1"	"1"
"AKU_00149"	"09"	"c.557T>A"	"r.(?)"	"p.(Met186Lys)"	"M186K"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_403a"	"substitution"	"(-)BsmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_403"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00149"	"09"	"c.557T>A"	"r.(?)"	"p.(Met186Lys)"	"M186K"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_403b"	"substitution"	"(-)BsmI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_403"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00061"	"09"	"c.559C>G"	"r.(?)"	"p.(Arg187Gly)"	"R187G"	"{SNPIDrs756255206: rs756255206}"	"missense"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	"CpG"	"AKU_VIL_23b"	"substitution"	"(-)BsmI, AciI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_23"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00062"	"09"	"c.566G>T"	"r.(?)"	"p.(Ser189Ile)"	"S189I"	""	"missense"	"unknown"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_4a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_4"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Homozygot"	"1"	"Algeria"	"2"	"1"
"AKU_00062"	"09"	"c.566G>T"	"r.(?)"	"p.(Ser189Ile)"	"S189I"	""	"missense"	"unknown"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_4b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_4"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Homozygot"	"1"	"Algeria"	"2"	"1"
"AKU_00249"	"09"	"c.587C>T"	"r.(?)"	"p.(Thr196Ile)"	"T196I"	"{SNPIDrs781491692: rs781491692}"	"missense"	"?"	"{PMID34686677: Lee et al. (2022)}"	""	"AKU_DB_422b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_422"	"AKU"	"{PMID34686677: Lee et al. (2022)}"	"Compound heterozygous"	"1"	"Taiwan"	"1"	"1"
"AKU_00063"	"09"	"c.588delC"	"r.(?)"	"p.(Arg197Glyfs*32)"	"R197fs (T196fs)"	"{SNPIDrs1414279737: rs1414279737}"	"frameshift"	""	"{PMID11001939: Rodriguez et al. (2000)}"	""	"AKU_DB_46a"	"deletion"	"(-)BstNI, BsaI, ScrFI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_46"	"AKU"	"{PMID11001939: Rodriguez et al. (2000)}"	"Homozygot"	"1"	"Portugal"	"1"	"1"
"AKU_00063"	"09"	"c.588delC"	"r.(?)"	"p.(Arg197Glyfs*32)"	"R197fs (T196fs)"	"{SNPIDrs1414279737: rs1414279737}"	"frameshift"	""	"{PMID11001939: Rodriguez et al. (2000)}"	""	"AKU_DB_46b"	"deletion"	"(-)BstNI, BsaI, ScrFI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_46"	"AKU"	"{PMID11001939: Rodriguez et al. (2000)}"	"Homozygot"	"1"	"Portugal"	"1"	"1"
"AKU_00063"	"09"	"c.588delC"	"r.(?)"	"p.(Arg197Glyfs*32)"	"R197fs (T196fs)"	"{SNPIDrs1414279737: rs1414279737}"	"frameshift"	""	"{PMID11001939: Rodriguez et al. (2000)}"	""	"AKU_TR3_0127b"	"deletion"	"(-)BstNI, BsaI, ScrFI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR3_0127"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Portugal"	"1"	"1"
"AKU_00141"	"09"	"c.589A>G"	"r.(?)"	"p.(Arg197Gly)"	"R197G"	"{SNPIDrs1414279737: rs1414279737}"	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_120b"	"substitution"	"(+)MspI, HpaII; (-)BstNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_120"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"2"	"1"
"AKU_00064"	"09"	"c.593G>A"	"r.(?)"	"p.(Gly198Asp)"	"G198D"	""	"missense"	"Protomer destabilisation"	"{PMID14978662:  Mannoni et al. (2004)}"	"CCC triplet"	"AKU_MAN_1a"	"substitution"	"(+)BsmFI"	""	"DNA"	"SEQ"	"exon"	"AKU_MAN_1"	"AKU"	"{PMID14978662:  Mannoni et al. (2004)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00064"	"09"	"c.593G>A"	"r.(?)"	"p.(Gly198Asp)"	"G198D"	""	"missense"	"Protomer destabilisation"	"{PMID14978662:  Mannoni et al. (2004)}"	"CCC triplet"	"AKU_MAN_1b"	"substitution"	"(+)BsmFI"	""	"DNA"	"SEQ"	"exon"	"AKU_MAN_1"	"AKU"	"{PMID14978662:  Mannoni et al. (2004)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00153"	"09"	"c.614G>A"	"r.(?)"	"p.(Gly205Asp)"	"G205D"	"{SNPIDrs754802510: rs754802510}"	"missense"	"Protomer destabilisation"	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_174a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_174"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00186"	"09"	"c.614G>T"	"r.(?)"	"p.(Gly205Val)"	"G205V"	"{SNPIDrs754802510: rs754802510}"	"missense"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR2_0327b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0327"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00065"	"09"	"c.647T>C"	"r.(?)"	"p.(Ile216Thr)"	"I216T"	"{SNPIDrs767201131: rs767201131}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_12a"	"substitution"	"(-)MfeI; (+)BsrI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_12"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Compound heterozygous"	"1"	"Spain"	"1"	"1"
"AKU_00065"	"09"	"c.647T>C"	"r.(?)"	"p.(Ile216Thr)"	"I216T"	"{SNPIDrs767201131: rs767201131}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_TR2_0331a"	"substitution"	"(-)MfeI; (+)BsrI "	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0331"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Algeria/Spain"	"1"	"1"
"AKU_00065"	"09"	"c.647T>C"	"r.(?)"	"p.(Ile216Thr)"	"I216T"	"{SNPIDrs767201131: rs767201131}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_TR2_0135b"	"substitution"	"(-)MfeI; (+)BsrI "	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0135"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France"	"2"	"1"
"AKU_00065"	"09"	"c.647T>C"	"r.(?)"	"p.(Ile216Thr)"	"I216T"	"{SNPIDrs767201131: rs767201131}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_TR2_0126a"	"substitution"	"(-)MfeI; (+)BsrI "	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0126"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Spain"	"1"	"1"
"AKU_00066"	"09"	"c.649G>T"	"r.(?)"	"p.(Gly217Trp)"	"G217W"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_27b"	"substitution"	"(-)MfeI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_27"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00066"	"09"	"c.649G>T"	"r.(?)"	"p.(Gly217Trp)"	"G217W"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_DB_129b"	"deletion"	"(-)MfeI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_129"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00255"	"09i"	"c.649+1G>A"	"r.(?)"	"p.(Arg184Glyfs*12)?"	"ivs9+1G>A"	""	"aberrant splicing (DS)/exon skipping"	""	"{PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_407a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_407"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00211"	"09i"	"c.649+2T>C"	"r.(?)"	"p.(?)"	"ivs9+2T>C"	"{SNPIDrs1057516307: rs1057516307}"	"aberrant splicing (DS)/exon skipping/frameshift"	""	"submitted, Dr. Andrea Zatkova"	""	"AKU_DB_276a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_276"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00211"	"09i"	"c.649+2T>C"	"r.(?)"	"p.(?)"	"ivs9+2T>C"	"{SNPIDrs1057516307: rs1057516307}"	"aberrant splicing (DS)/exon skipping/frameshift"	""	"submitted, Dr. Andrea Zatkova"	""	"AKU_DB_276b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_276"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00211"	"09i"	"c.649+2T>C"	"r.(?)"	"p.(?)"	"ivs9+2T>C"	"{SNPIDrs1057516307: rs1057516307}"	"aberrant splicing (DS)/exon skipping/frameshift"	""	"submitted, Dr. Andrea Zatkova"	""	"AKU_DB_431a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_431"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00189"	"09i"	"c.649+31G>A"	"r.(?)"	"p.(?)"	"ivs9+31G>A"	"{SNPIDrs376223608: rs376223608}"	"polymorphism"	""	"{PMID25681086: Usher et al. (2015)}"	""	"AKU_DB_122c"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_122"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00190"	"09i"	"c.649+39T>G"	"r.(?)"	"p.(?)"	"ivs9+39T>G"	""	"aberrant splicing (AS)"	""	"{PMID25681086: Usher et al. (2015)}"	""	"AKU_DB_131b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_131"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00190"	"09i"	"c.649+39T>G"	"r.(?)"	"p.(?)"	"ivs9+39T>G"	""	"abberant splicing (AS)"	""	"{PMID25681086: Usher et al. (2015)}"	""	"AKU_DB_219a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_219"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00133"	"09i"	"c.649+104C>T"	"r.(?)"	"p.(?)"	"ivs9+104C>T"	"{SNPIDrs1862942: rs1862942}"	"polymorphism"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_POL_27"	"substitution"	""	"0,095(T)"	"DNA"	"SEQ"	"intron"	"AKU_POL_27"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"1"	""	"1"	"1"
"AKU_00134"	"09i"	"c.650-86A>G"	"r.(?)"	"p.(?)"	"ivs9-86A>G"	"{SNPIDrs2075504: rs2075504}"	"polymorphism"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_POL_28"	"substitution"	""	"0,057(G)"	"DNA"	"SEQ"	"intron"	"AKU_POL_28"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"1"	""	"1"	"1"
"AKU_00267"	"09i"	"c.650-85A>G"	"r.(?)"	"p.(?)"	"ivs9-85A>G"	"{SNPIDrs2075504: rs2075504}"	"polymorphism"	""	"{PMID25804398:Nemethova et al. (2016)};{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_183c"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_183"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00267"	"09i"	"c.650-85A>G"	"r.(?)"	"p.(?)"	"ivs9-85A>G"	"{SNPIDrs2075504: rs2075504}"	"polymorphism"	""	"{PMID25804398:Nemethova et al. (2016)};{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_183d"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_183"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"India"	"1"	"1"
"AKU_00067"	"09i"	"c.650-56G>A"	"r.(spl?)"	"p.(?)"	"ivs9-56G>A"	""	"aberrant splicing (AS)/exon skipping"	""	"{PMID9529363: de Bernabe et al. (1998)}"	"CCC triplet"	"AKU_DB_10a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_10"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Compound heterozygous"	"1"	"Italy"	"2"	"1"
"AKU_00067"	"09i"	"c.650-56G>A"	"r.(spl?)"	"p.(?)"	"ivs9-56G>A"	""	"aberrant splicing (AS)/exon skipping"	""	"{PMID9529363: de Bernabe et al. (1998)}"	"CCC triplet"	"AKU_DB_11a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_11"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Compound heterozygous"	"1"	"France/Italy"	"2"	"1"
"AKU_00067"	"09i"	"c.650-56G>A"	"r.(spl?)"	"p.(?)"	"ivs9-56G>A"	""	"aberrant splicing (AS)/exon skipping"	""	"{PMID9529363: de Bernabe et al. (1998)}"	"CCC triplet"	"AKU_DB_246a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_246"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00121"	"09i"	"c.650-38insA"	"r.(?)"	"p.(?)"	"ivs9-38insA"	""	"polymorphism"	""	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_POL_15"	"substitution"	""	"0,013(A)"	"DNA"	"SEQ"	"intron"	"AKU_POL_15"	""	"{PMID9529363: de Bernabe et al. (1998)}"	""	"1"	""	"1"	"1"
"AKU_00068"	"09i"	"c.650-17G>A"	"r.(spl?)"	"p.(?)"	"ivs9-17G>A"	""	"aberrant splicing (AS)/exon skipping"	""	"{PMID9529363: de Bernabe et al. (1998)}"	"CCC triplet"	"AKU_DB_10b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_10"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Compound heterozygous"	"1"	"Italy"	"2"	"1"
"AKU_00193"	"09i"	"c.650-13T>G"	"r.(?)"	"p.(?)"	"ivs9-13T>G"	""	" aberrant splicing (AS)/exon skipping/cryptic splice site"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR2_0332a"	"substitution"	""	""	"DNA/RNA"	"SEQ"	"intron"	"AKU_TR_0332"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Mali"	"1"	"1"
"AKU_00193"	"09i"	"c.650-13T>G"	"r.(?)"	"p.(?)"	"ivs9-13T>G"	""	" aberrant splicing (AS)/exon skipping/cryptic splice site"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR2_0332b"	"substitution"	""	""	"DNA/RNA"	"SEQ"	"intron"	"AKU_TR_0332"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Mali"	"1"	"1"
"AKU_00069"	"10"	"c.652delG"	"r.(?)"	"p.(Ala218Profs*11)"	"A218fs (G217fs)"	"{SNPIDrs916645169: rs916645169}"	"frameshift"	""	"{PMID16085442: Ladjouze-Rezig et al. (2006)}"	"CCC triplet"	"AKU_DB_83a"	"deletion"	"(-)NlaIV"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_83"	"AKU"	"{PMID11001939: Rodriguez et al. (2000)}"	"Compound heterozygous"	"1"	"Algeria"	"1"	"1"
"AKU_00069"	"10"	"c.652delG"	"r.(?)"	"p.(Ala218Profs*11)"	"A218fs (G217fs)"	"{SNPIDrs916645169: rs916645169}"	"frameshift"	""	"{PMID16085442: Ladjouze-Rezig et al. (2006)}"	"CCC triplet"	"AKU_DB_97b"	"deletion"	"(-)NlaIV"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_97"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"France/Algeria"	"1"	"1"
"AKU_00069"	"10"	"c.652delG"	"r.(?)"	"p.(Ala218Profs*11)"	"A218fs (G217fs)"	"{SNPIDrs916645169: rs916645169}"	"frameshift"	""	"{PMID16085442: Ladjouze-Rezig et al. (2006)}"	"CCC triplet"	"AKU_DB_278a"	"deletion"	"(-)NlaIV"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_278"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"France/Algeria"	"1"	"1"
"AKU_00069"	"10"	"c.652delG"	"r.(?)"	"p.(Ala218Profs*11)"	"A218fs (G217fs)"	"{SNPIDrs916645169: rs916645169}"	"frameshift"	""	"{PMID16085442: Ladjouze-Rezig et al. (2006)}"	"CCC triplet"	"AKU_DB_278b"	"deletion"	"(-)NlaIV"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_278"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"France/Algeria"	"1"	"1"
"AKU_00070"	"10"	"c.656A>G"	"r.(?)"	"p.(Asn219Ser)"	"N219S"	""	"missense"	"Hexamer disruption"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_98a"	"substitution"	"(+)BsrI, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_98"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Turkey"	"2"	"1"
"AKU_00070"	"10"	"c.656A>G"	"r.(?)"	"p.(Asn219Ser)"	"N219S"	""	"missense"	"Hexamer disruption"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_98b"	"substitution"	"(+)BsrI, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_98"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Turkey"	"2"	"1"
"AKU_00070"	"10"	"c.656A>G"	"r.(?)"	"p.(Asn219Ser)"	"N219S"	""	"missense"	"Hexamer disruption"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_208a"	"substitution"	"(+)BsrI, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_208"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00070"	"10"	"c.656A>G"	"r.(?)"	"p.(Asn219Ser)"	"N219S"	""	"missense"	"Hexamer disruption"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_208b"	"substitution"	"(+)BsrI, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_208"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00070"	"10"	"c.656A>G"	"r.(?)"	"p.(Asn219Ser)"	"N219S"	""	"missense"	"Hexamer disruption"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_361a"	"substitution"	"(+)BsrI, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_361"	"AKU"	"Akbaba et al. 2020"	"Homozygot"	"1"	"Turkey"	"2"	"1"
"AKU_00070"	"10"	"c.656A>G"	"r.(?)"	"p.(Asn219Ser)"	"N219S"	""	"missense"	"Hexamer disruption"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_361b"	"substitution"	"(+)BsrI, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_361"	"AKU"	"Akbaba et al. 2020"	"Homozygot"	"1"	"Turkey"	"2"	"1"
"AKU_00070"	"10"	"c.656A>G"	"r.(?)"	"p.(Asn219Ser)"	"N219S"	""	"missense"	"Hexamer disruption"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_364a"	"substitution"	"(+)BsrI, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_364"	"AKU"	"Akbaba et al. 2020"	"Homozygot"	"1"	"Turkey"	"2"	"1"
"AKU_00070"	"10"	"c.656A>G"	"r.(?)"	"p.(Asn219Ser)"	"N219S"	""	"missense"	"Hexamer disruption"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_364b"	"substitution"	"(+)BsrI, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_364"	"AKU"	"Akbaba et al. 2020"	"Homozygot"	"1"	"Turkey"	"2"	"1"
"AKU_00203"	"10"	"c.656_657insAATCAA"	"r.(?)"	"p.(Ala218_Asn219insLysIle)"	"A218_N219insKI"	""	"insertion inframe"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_245b"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_245"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00203"	"10"	"c.656_657insAATCAA"	"r.(?)"	"p.(Ala218_Asn219insLysIle)"	"A218_N219insKI"	""	"insertion inframe"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_356a"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_356"	"AKU"	"Akbaba et al. 2020"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00203"	"10"	"c.656_657insAATCAA"	"r.(?)"	"p.(Ala218_Asn219insLysIle)"	"A218_N219insKI"	""	"insertion inframe"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_356b"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_356"	"AKU"	"Akbaba et al. 2020"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00210"	"10"	"c.659G>T"	"r.(?)"	"p.(Gly220Val)"	"G220V"	""	"missense"	"Hexamer disruption"	"submitted, Dr. Jeannette Usher"	""	"AKU_DB_268b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_268"	"AKU"	"submitted, Dr. Jeannette Usher"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00171"	"10"	"c.664_674dup"	"r.(?)"	"p.(Asp226Profs*7)"	"D226fs"	""	"frameshift"	""	"{PMID25681086: Usher et al. (2015)}"	""	"AKU_DB_219b"	"insertion"	"(+)BsaJI, NmeAIII"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_219"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00233"	"10"	"c.665C>A"	"r.(?)"	"p.(Ala222Asp)"	"A222D"	"{SNPIDrs1576294110: rs1576294110}"	"missense"	"Protomer destabilisation"	"{PMID34504318: Soltysova et al. (2021)}, {PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_337a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_337"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00233"	"10"	"c.665C>A"	"r.(?)"	"p.(Ala222Asp)"	"A222D"	"{SNPIDrs1576294110: rs1576294110}"	"missense"	"Protomer destabilisation"	"{PMID34504318: Soltysova et al. (2021)}, {PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_337b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_337"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00254"	"10"	"c.673C>T"	"r.(?)"	"p.(Arg225Cys)"	"R225C"	"{SNPIDrs756789146: rs756789146}"	"missense"	"?"	"Mwafi  et al. 2021"	""	"AKU_DB_384b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_384"	"AKU"	"Mwafi et al. 2021"	"Compound heterozygous"	"1"	"Jordan"	"2"	"1"
"AKU_00254"	"10"	"c.673C>T"	"r.(?)"	"p.(Arg225Cys)"	"R225C"	"{SNPIDrs756789146: rs756789146}"	"missense"	"?"	"Mwafi  et al. 2021"	""	"AKU_DB_384b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_384"	"AKU"	"Mwafi et al. 2021"	"Compound heterozygous"	"1"	"Jordan"	"2"	"1"
"AKU_00254"	"10"	"c.673C>T"	"r.(?)"	"p.(Arg225Cys)"	"R225C"	"{SNPIDrs756789146: rs756789146}"	"missense"	"?"	"Mwafi  et al. 2021"	""	"AKU_DB_384c"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_384"	"AKU"	"Mwafi et al. 2021"	"Compound heterozygous"	"1"	"Jordan"	"2"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_DB_15a"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_15"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Homozygot"	"1"	"Spain"	"1"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_DB_15b"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_15"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Homozygot"	"1"	"Spain"	"1"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_DB_86a"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_86"	"AKU"	"{PMID12872836: Uyguner et al. (2003)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_DB_86b"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_86"	"AKU"	"{PMID12872836: Uyguner et al. (2003)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_DB_87a"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_87"	"AKU"	"{PMID12872836: Uyguner et al. (2003)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_DB_87b"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_87"	"AKU"	"{PMID12872836: Uyguner et al. (2003)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_DB_88a"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_88"	"AKU"	"{PMID12872836: Uyguner et al. (2003)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_DB_88b"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_88"	"AKU"	"{PMID12872836: Uyguner et al. (2003)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_DB_136b"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_136"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_TR2_0115a"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0115"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Netherland"	"1"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_DB_338b"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_338"	"AKU"	"Kilavuz et al. 2018"	"Compound heterozygous"	"1"	"Turkey"	"2"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_DB_340a"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_340"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"2"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_DB_340b"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_340"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"2"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_DB_342a"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_342"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_DB_342b"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_342"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_DB_346a"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_346"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_DB_346b"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_346"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_DB_348b"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_348"	"AKU"	"Kilavuz et al. 2018"	"Compound heterozygous"	"1"	"Turkey"	"1"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_DB_351a"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_351"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_DB_351b"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_351"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_TU_22a"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_TU_22"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_TU_22b"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_TU_22"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_TU_28a"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_TU_28"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"3"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_TU_28b"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_TU_28"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"3"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_TU_30a"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_TU_30"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_TU_30b"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_TU_30"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_TU_31a"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_TU_31"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"2"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_TU_31b"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_TU_31"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"2"	"1"
"AKU_00071"	"10"	"c.674G>A"	"r.(?)"	"p.(Arg225His)"	"R225H"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	"CpG"	"AKU_DB_390b"	"substitution"	"(+)NlaIII; (-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_390"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00170"	"10"	"c.674G>C"	"r.(?)"	"p.(Arg225Pro)"	"R225P"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID25681086: Usher et al. (2015)}"	"CpG"	"AKU_DB_216a "	"substitution"	"(+)LpnPI;(-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_216"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Homozygot"	"1"	"United Kingdom"	"2"	"1"
"AKU_00170"	"10"	"c.674G>C"	"r.(?)"	"p.(Arg225Pro)"	"R225P"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID25681086: Usher et al. (2015)}"	"CpG"	"AKU_DB_216b"	"substitution"	"(+)LpnPI;(-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_216"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Homozygot"	"1"	"United Kingdom"	"2"	"1"
"AKU_00170"	"10"	"c.674G>C"	"r.(?)"	"p.(Arg225Pro)"	"R225P"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID25681086: Usher et al. (2015)}"	"CpG"	"AKU_DB_216a"	"substitution"	"(+)LpnPI;(-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_216"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Homozygot"	"1"	"United Kingdom"	"2"	"1"
"AKU_00170"	"10"	"c.674G>C"	"r.(?)"	"p.(Arg225Pro)"	"R225P"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID25681086: Usher et al. (2015)}"	"CpG"	"AKU_DB_216c"	"substitution"	"(+)LpnPI;(-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_216"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Homozygot"	"1"	"United Kingdom"	"2"	"1"
"AKU_00170"	"10"	"c.674G>C"	"r.(?)"	"p.(Arg225Pro)"	"R225P"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID25681086: Usher et al. (2015)}"	"CpG"	"AKU_DB_226b"	"substitution"	"(+)LpnPI;(-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_226"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00170"	"10"	"c.674G>C"	"r.(?)"	"p.(Arg225Pro)"	"R225P"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID25681086: Usher et al. (2015)}"	"CpG"	"AKU_DB_270a "	"substitution"	"(+)LpnPI;(-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_270"	"AKU"	"submitted, Dr. Jeannette Usher"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00170"	"10"	"c.674G>C"	"r.(?)"	"p.(Arg225Pro)"	"R225P"	"{SNPIDrs562853291: rs562853291}"	"missense"	"Hexamer disruption"	"{PMID25681086: Usher et al. (2015)}"	"CpG"	"AKU_TR2_0126b"	"substitution"	"(+)LpnPI;(-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0126"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Spain"	"1"	"1"
"AKU_00072"	"10"	"c.674G>T"	"r.(?)"	"p.(Arg225Leu)"	"R225L"	""	"missense"	"Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	"CpG"	"AKU_VIL_62a"	"substitution"	"(-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_62"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00072"	"10"	"c.674G>T"	"r.(?)"	"p.(Arg225Leu)"	"R225L"	""	"missense"	"Hexamer disruption"	"{PMID30737480: Ascher et al. (2019)}"	"CpG"	"AKU_DB_243a"	"substitution"	"(-)BssSI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_243"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00237"	"10"	"c.679T>C"	"r.(?)"	"p.(Phe227Leu)"	"F227L"	""	"missense"	"Protomer destabilisation/unknown"	"Kilavuz et al. 2018"	""	"AKU_DB_345a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_345"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00237"	"10"	"c.679T>C"	"r.(?)"	"p.(Phe227Leu)"	"F227L"	""	"missense"	"Protomer destabilisation/unknown"	"Kilavuz et al. 2018"	""	"AKU_DB_345b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_345"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00073"	"10"	"c.680T>C"	"r.(?)"	"p.(Phe227Ser)"	"F227S"	"{SNPIDrs1941093400: rs1941093400}"	"missense"	"Protomer destabilisation"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_16a"	"substitution"	"(+)TfiI, HinfI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_16"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Homozygot"	"1"	"Spain"	"1"	"1"
"AKU_00073"	"10"	"c.680T>C"	"r.(?)"	"p.(Phe227Ser)"	"F227S"	"{SNPIDrs1941093400: rs1941093400}"	"missense"	"Protomer destabilisation"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_16b"	"substitution"	"(+)TfiI, HinfI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_16"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Homozygot"	"1"	"Spain"	"1"	"1"
"AKU_00073"	"10"	"c.680T>C"	"r.(?)"	"p.(Phe227Ser)"	"F227S"	"{SNPIDrs1941093400: rs1941093400}"	"missense"	"Protomer destabilisation"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_171a"	"substitution"	"(+)TfiI, HinfI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_171"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00073"	"10"	"c.680T>C"	"r.(?)"	"p.(Phe227Ser)"	"F227S"	"{SNPIDrs1941093400: rs1941093400}"	"missense"	"Protomer destabilisation"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_171b"	"substitution"	"(+)TfiI, HinfI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_171"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00073"	"10"	"c.680T>C"	"r.(?)"	"p.(Phe227Ser)"	"F227S"	"{SNPIDrs1941093400: rs1941093400}"	"missense"	"Protomer destabilisation"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_235b"	"substitution"	"(+)TfiI, HinfI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_235"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00073"	"10"	"c.680T>C"	"r.(?)"	"p.(Phe227Ser)"	"F227S"	"{SNPIDrs1941093400: rs1941093400}"	"missense"	"Protomer destabilisation"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_291b"	"substitution"	"(+)TfiI, HinfI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_291"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00075"	"10"	"c.688C>A"	"r.(?)"	"p.(Pro230Thr)"	"P230T"	""	"missense"	"Protomer destabilisation"	"{PMID10205262: de Bernabe et al. (1999a)}"	"CCC triplet"	"AKU_DB_18b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_18"	"AKU"	"{PMID10205262: de Bernabe et al. (1999a)}"	"Compound heterozygous"	"1"	"Spain"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_DB_1a"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_1"	"AKU"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"Homozygot"	"1"	"Spain"	"2"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_DB_1b"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_1"	"AKU"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"Homozygot"	"1"	"Spain"	"2"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_DB_2a"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_2"	"AKU"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"Compound heterozygous"	"1"	"Spain"	"3"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_DB_3a"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_3"	"AKU"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_DB_3b"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_3"	"AKU"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_DB_64a"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_64"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_DB_64b"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_64"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_DB_95a"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_95"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_RAM_1a"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_RAM_1"	"AKU"	"{PMID9674916: Ramos et al. (1998)}"	"Homozygot"	"1"	"Canary Islands"	"7"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_RAM_1b"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_RAM_1"	"AKU"	"{PMID9674916: Ramos et al. (1998)}"	"Homozygot"	"1"	"Canary Islands"	"7"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_SRS_12a"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_12"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_SRS_12b"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_12"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_VIL_63a"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_63"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_VIL_79b"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_79"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_DB_175a"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_175"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_DB_175b"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_175"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_DB_178b"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_178"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_DB_195a"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_195"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_DB_195b"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_195"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_DB_202a"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_202"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Homozygot"	"1"	"United Kingdom"	"2"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_DB_202b"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_202"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Homozygot"	"1"	"United Kingdom"	"2"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_DB_215a"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_215"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_DB_228a"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_228"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_DB_228b"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_228"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_TR2_0321a"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0321"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France/Belgium"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_DB_262a"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_262"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_DB_262b"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_262"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_TR2_0322a"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0322"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France/Italy"	"2"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_TR2_0307a"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0307"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_TR2_0328a"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0328"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France/Belgium"	"2"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_TR2_0133a"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0133"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_TR2_0133b"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0133"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_TR2_0217a"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0217"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_TR2_0217b"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0217"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_TR2_0219b"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0219"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00074"	"10"	"c.688C>T"	"r.(?)"	"p.(Pro230Ser)"	"P230S"	"{SNPIDrs28942100: rs28942100}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"CCC triplet"	"AKU_DB_316a"	"substitution"	"(+)EcoRV"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_316"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00261"	"10"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	"R237C"	"{SNPIDrs1171237852: rs1171237852}"	"missense"	""	"submitted, Dr. Andrea Zatkova"	""	"AKU_DB_436a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_436"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Compound heterozygous"	"1"	"Ireland"	"1"	"1"
"AKU_00172"	"10"	"c.733G>T"	"r.(?)"	"p.(Val245Phe)"	"V245F"	""	"missense"	"Protomer destabilisation"	"{PMID25681086: Usher et al. (2015)}"	""	"AKU_DB_220b"	"substitution"	"(+)AflIII, HpyCH4IV;(-)HpyCH4III"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_220"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00151"	"10"	"c.742A>G"	"r.(?)"	"p.(Lys248Glu)"	"K248E"	""	"missense"	"Protomer destabilisation"	"{PMID10819641: Porfirio et al. (2000)}"	""	"AKU_DB_27b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_27"	"AKU"	"{PMID10819641: Porfirio et al. (2000)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00151"	"10"	"c.742A>G"	"r.(?)"	"p.(Lys248Glu)"	"K248E"	""	"missense"	"Protomer destabilisation"	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_168a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_168"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00151"	"10"	"c.742A>G"	"r.(?)"	"p.(Lys248Glu)"	"K248E"	""	"missense"	"Protomer destabilisation"	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_168b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_168"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00156"	"10"	"c.752G>A"	"r.(?)"	"p.(Gly251Asp)"	"G251D"	"{SNPIDrs781011621: rs781011621}"	"missense"	"Protomer destabilisation"	"{PMID25804398:Nemethova et al. (2016)}"	"CCC triplet"	"AKU_DB_189a"	"substitution"	"(-)BsaJI, Cac8I"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_189"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00156"	"10"	"c.752G>A"	"r.(?)"	"p.(Gly251Asp)"	"G251D"	"{SNPIDrs781011621: rs781011621}"	"missense"	"Protomer destabilisation"	"{PMID25804398:Nemethova et al. (2016)}"	"CCC triplet"	"AKU_DB_288b"	"substitution"	"(-)BsaJI, Cac8I"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_288"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00156"	"10"	"c.752G>A"	"r.(?)"	"p.(Gly251Asp)"	"G251D"	"{SNPIDrs781011621: rs781011621}"	"missense"	"Protomer destabilisation"	"{PMID25804398:Nemethova et al. (2016)}"	"CCC triplet"	"AKU_DB_355a"	"substitution"	"(-)BsaJI, Cac8I"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_355"	"AKU"	"Akbaba et al. 2020"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00156"	"10"	"c.752G>A"	"r.(?)"	"p.(Gly251Asp)"	"G251D"	"{SNPIDrs781011621: rs781011621}"	"missense"	"Protomer destabilisation"	"{PMID25804398:Nemethova et al. (2016)}"	"CCC triplet"	"AKU_DB_355b"	"substitution"	"(-)BsaJI, Cac8I"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_355"	"AKU"	"Akbaba et al. 2020"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00156"	"10"	"c.752G>A"	"r.(?)"	"p.(Gly251Asp)"	"G251D"	"{SNPIDrs781011621: rs781011621}"	"missense"	"Protomer destabilisation"	"{PMID25804398:Nemethova et al. (2016)}"	"CCC triplet"	"AKU_DB_382b"	"substitution"	"(-)BsaJI, Cac8I"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_382"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00156"	"10"	"c.752G>A"	"r.(?)"	"p.(Gly251Asp)"	"G251D"	"{SNPIDrs781011621: rs781011621}"	"missense"	"Protomer destabilisation"	"{PMID25804398:Nemethova et al. (2016)}"	"CCC triplet"	"AKU_DB_398b"	"substitution"	"(-)BsaJI, Cac8I"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_398"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00221"	"10"	"c.753C>T"	"r.(?)"	"p.(Gly251Gly)"	"G251G"	""	"silent/aberrant splicing (creating novel DS)"	""	"{PMID34504318: Soltysova et al. (2021)}, {PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_287c"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_287"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"3"	"1"
"AKU_00221"	"10"	"c.753C>T"	"r.(?)"	"p.(Gly251Gly)"	"G251G"	""	"silent/aberrant splicing (creating novel DS)"	""	"{PMID34504318: Soltysova et al. (2021)}, {PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_299a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_299"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00221"	"10"	"c.753C>T"	"r.(?)"	"p.(Gly251Gly)"	"G251G"	""	"silent/aberrant splicing (creating novel DS)"	""	"{PMID34504318: Soltysova et al. (2021)}, {PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_299b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_299"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00221"	"10"	"c.753C>T"	"r.(?)"	"p.(Gly251Gly)"	"G251G"	""	"silent/aberrant splicing (creating novel DS)"	""	"{PMID34504318: Soltysova et al. (2021)}, {PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_305a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_305"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00221"	"10"	"c.753C>T"	"r.(?)"	"p.(Gly251Gly)"	"G251G"	""	"silent/aberrant splicing (creating novel DS)"	""	"{PMID34504318: Soltysova et al. (2021)}, {PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_305b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_305"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"1"	"1"
"AKU_00221"	"10"	"c.753C>T"	"r.(?)"	"p.(Gly251Gly)"	"G251G"	""	"silent/aberrant splicing (creating novel DS)"	""	"{PMID34504318: Soltysova et al. (2021)}, {PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_313b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_313"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00221"	"10"	"c.753C>T"	"r.(?)"	"p.(Gly251Gly)"	"G251G"	""	"silent/aberrant splicing (creating novel DS)"	""	"{PMID34504318: Soltysova et al. (2021)}, {PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_326b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_326"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00221"	"10"	"c.753C>T"	"r.(?)"	"p.(Gly251Gly)"	"G251G"	""	"silent/aberrant splicing (creating novel DS)"	""	"{PMID34504318: Soltysova et al. (2021)}, {PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_367b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_367"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00221"	"10"	"c.753C>T"	"r.(?)"	"p.(Gly251Gly)"	"G251G"	""	"silent/aberrant splicing (creating novel DS)"	""	"{PMID34504318: Soltysova et al. (2021)}, {PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_368b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_368"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00221"	"10"	"c.753C>T"	"r.(?)"	"p.(Gly251Gly)"	"G251G"	""	"silent/aberrant splicing (creating novel DS)"	""	"{PMID34504318: Soltysova et al. (2021)}, {PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_408a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_408"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00077"	"10"	"c.773A>C"	"r.(?)"	"p.(Gln258Pro)"	"Q258P"	""	"missense"	"Protomer destabilisation"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_VIL_44a"	"substitution"	"(+)MspI, HpaII, BsaWI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_44"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00077"	"10"	"c.773A>C"	"r.(?)"	"p.(Gln258Pro)"	"Q258P"	""	"missense"	"Protomer destabilisation"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_VIL_93b"	"substitution"	"(+)MspI, HpaII, BsaWI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_93"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00188"	"10i"	"c.774+1G>T"	"r.(?)"	"p.(Ala218Cysfs*32)"	"ivs10+1G>T"	""	"aberrant splicing (DS)/exon skipping/frameshift?"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR2_0324a"	"substitution"	"?"	""	"DNA"	"SEQ"	"intron"	"AKU_TR2_0324"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Belgium"	"1"	"1"
"AKU_00253"	"10i"	"c.775-16T>A"	"r.(?)"	"p.(?)"	"ivs10-16T>A"	"{SNPIDrs995182027: rs995182027}"	"aberrant splicing, creates novel (AS)/frameshift?"	""	"{PMID32212000: Danda et al. (2020)}"	""	"AKU_DB_383a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_383"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"2"	"1"
"AKU_00253"	"10i"	"c.775-16T>A"	"r.(?)"	"p.(?)"	"ivs10-16T>A"	"{SNPIDrs995182027: rs995182027}"	"aberrant splicing, creates novel (AS)/frameshift?"	""	"{PMID32212000: Danda et al. (2020)}"	""	"AKU_DB_383b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_383"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Homozygot"	"1"	"India"	"2"	"1"
"AKU_00229"	"10"	"c.791A>G"	"r.(?)"	"p.(Asn264Ser)"	"N264S"	"{SNPIDrs1469714335: rs1469714335}"	"missense"	"Protomer destabilisation"	"{PMID34504318: Soltysova et al. (2021)}"	""	"AKU_DB_316b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_316"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00213"	"11"	"c.775-1915_879+1293del"	"r.(?)"	"p.(Val260_Asp294del)"	"ex11 del"	""	"deletion"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR2_0119c"	"deletion"	""	""	"DNA"	"SEQ, MLPA"	"intron/exon"	"AKU_TR2_0119"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00213"	"11"	"c.775-1915_879+1293del"	"r.(?)"	"p.(Val260_Asp294del)"	"ex11 del"	""	"deletion"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_445a"	"deletion"	""	""	"DNA"	"SEQ, MLPA"	"intron/exon"	"AKU_DB_445"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00213"	"11"	"c.775-1915_879+1293del"	"r.(?)"	"p.(Val260_Asp294del)"	"ex11 del"	""	"deletion"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_445b"	"deletion"	""	""	"DNA"	"SEQ, MLPA"	"intron/exon"	"AKU_DB_445"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00209"	"11"	"c.787T>C"	"r.(?)"	"p.(Phe263Leu)"	"F263L"	""	"missense"	"Protomer destabilisation"	"submitted, Dr. Jeannette Usher"	""	"AKU_DB_264a"	"substitution"	"(-)SfaNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_264"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00209"	"11"	"c.787T>C"	"r.(?)"	"p.(Phe263Leu)"	"F263L"	""	"missense"	"Protomer destabilisation"	"submitted, Dr. Jeannette Usher"	""	"AKU_DB_264b"	"substitution"	"(-)SfaNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_264"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00179"	"11"	"c.800C>T"	"r.(?)"	"p.(Ala267Val)"	"A267V"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR2_0137a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0137"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"France"	"1"	"1"
"AKU_00179"	"11"	"c.800C>T"	"r.(?)"	"p.(Ala267Val)"	"A267V"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR2_0137b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0137"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"France"	"1"	"1"
"AKU_00078"	"11"	"c.806A>G"	"r.(?)"	"p.(His269Arg)"	"H269R"	"{SNPIDrs756522409: rs756522409}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_96b"	"substitution"	"(+)FauI, HinP1I, HhaI, AciI "	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_96"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_109a"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_109"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"France/Armenia"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_29a"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_29"	"AKU"	"{PMID10819641: Porfirio et al. (2000)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_29b"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_29"	"AKU"	"{PMID10819641: Porfirio et al. (2000)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_52a"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_52"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_53a"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_53"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"7"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_59b"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_59"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_61c"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_61"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_66b"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_66"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_67b"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_67"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_77a"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_77"	"AKU"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	"Homozygot"	"1"	"Dominican republic"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_77b"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_77"	"AKU"	"{PMID12114497: Goicoechea de Jorge et al. (2002)}"	"Homozygot"	"1"	"Dominican republic"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_91a"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_91"	"AKU"	"{PMID12872836: Uyguner et al. (2003)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_91b"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_91"	"AKU"	"{PMID12872836: Uyguner et al. (2003)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_SRS_4a"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_4"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_VIL_10a"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_10"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_VIL_10b"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_10"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_115b"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_115"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_125a"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_125"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_67b"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_67"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_148a"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_148"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Brasil"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_150b"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_150"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_237a"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_237"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_TR3_0122a"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR3_0122"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Germany/Peru"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_TR2_0322b"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0322"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France/Italy"	"2"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_TR2_0209b"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0209"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_307a"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_307"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_343a"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_343"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_343b"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_343"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_TU_07c"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_TU_07"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Compound heterozygous"	"1"	"Turkey"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_TU_11b"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_TU_11"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Compound heterozygous"	"1"	"Turkey"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_TU_12a"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_TU_12"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_TU_12b"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_TU_12"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_TU_29b"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_TU_29"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Compound heterozygous"	"1"	"Turkey"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_392b"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_392"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_405b"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_405"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_432b"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_432"	"AKU"	"submitted, Dr. Pelin Teke Kisa"	"Compound heterozygous"	"1"	"Turkey"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_437a"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_437"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_437b"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_437"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_TR3_0126a"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR3_0126"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Latvia"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_TR3_0127a"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR3_0127"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Portugal"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_441a"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_441"	"AKU"	"{PMID37658095: Abdelkhalek et al. (2023)}"	"Homozygot"	"1"	"Egypt"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_441b"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_441"	"AKU"	"{PMID37658095: Abdelkhalek et al. (2023)}"	"Homozygot"	"1"	"Egypt"	"1"	"1"
"AKU_00079"	"11"	"c.808G>A"	"r.(?)"	"p.(Gly270Arg)"	"G270R"	"{SNPIDrs120074174: rs120074174}"	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet, CpG"	"AKU_DB_448b"	"substitution"	"(+)EcoNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_448"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00263"	"11"	"c.815A>G"	"r.(?)"	"p.(Tyr272Cys)"	"Y272C"	""	"missense"	""	"submitted, Dr. Andrea Zatkova"	""	"AKU_DB_438a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_437"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00263"	"11"	"c.815A>G"	"r.(?)"	"p.(Tyr272Cys)"	"Y272C"	""	"missense"	""	"submitted, Dr. Andrea Zatkova"	""	"AKU_DB_438b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_437"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00105"	"11"	"c.821C>T"	"r.(?)"	"p.(Pro274Leu)"	"P274L"	"{SNPIDrs1397264922: rs1397264922}"	"missense"	"Protomer destabilisation"	"{PMID21822197: Gucev et al. (2011)}"	"CCC triplet"	"AKU_DB_116b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_116"	"AKU"	"{PMID21822197: Gucev et al. (2011)}"	"Compound heterozygous"	"1"	"Macedonia"	"1"	"1"
"AKU_00105"	"11"	"c.821C>T"	"r.(?)"	"p.(Pro274Leu)"	"P274L"	"{SNPIDrs1397264922: rs1397264922}"	"missense"	"Protomer destabilisation"	"{PMID21822197: Gucev et al. (2011)}"	"CCC triplet"	"AKU_DB_141a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_141"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"The Netherlands"	"1"	"1"
"AKU_00105"	"11"	"c.821C>T"	"r.(?)"	"p.(Pro274Leu)"	"P274L"	"{SNPIDrs1397264922: rs1397264922}"	"missense"	"Protomer destabilisation"	"{PMID21822197: Gucev et al. (2011)}"	"CCC triplet"	"AKU_DB_141b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_141"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"The Netherlands"	"1"	"1"
"AKU_00105"	"11"	"c.821C>T"	"r.(?)"	"p.(Pro274Leu)"	"P274L"	"{SNPIDrs1397264922: rs1397264922}"	"missense"	"Protomer destabilisation"	"{PMID21822197: Gucev et al. (2011)}"	"CCC triplet"	"AKU_DB_308a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_308"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"2"	"1"
"AKU_00105"	"11"	"c.821C>T"	"r.(?)"	"p.(Pro274Leu)"	"P274L"	"{SNPIDrs1397264922: rs1397264922}"	"missense"	"Protomer destabilisation"	"{PMID21822197: Gucev et al. (2011)}"	"CCC triplet"	"AKU_DB_308b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_308"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Homozygot"	"1"	"Russia"	"2"	"1"
"AKU_00105"	"11"	"c.821C>T"	"r.(?)"	"p.(Pro274Leu)"	"P274L"	"{SNPIDrs1397264922: rs1397264922}"	"missense"	"Protomer destabilisation"	"{PMID21822197: Gucev et al. (2011)}"	"CCC triplet"	"AKU_DB_360a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_360"	"AKU"	"Akbaba et al. 2020"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00105"	"11"	"c.821C>T"	"r.(?)"	"p.(Pro274Leu)"	"P274L"	"{SNPIDrs1397264922: rs1397264922}"	"missense"	"Protomer destabilisation"	"{PMID21822197: Gucev et al. (2011)}"	"CCC triplet"	"AKU_DB_360b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_360"	"AKU"	"Akbaba et al. 2020"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00142"	"11"	"c.828G>C"	"r.(?)"	"p.(Lys276Asn)"	"K276N"	""	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_121a"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_121"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00142"	"11"	"c.828G>C"	"r.(?)"	"p.(Lys276Asn)"	"K276N"	""	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_206a"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_206"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00142"	"11"	"c.828G>C"	"r.(?)"	"p.(Lys276Asn)"	"K276N"	""	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_206b"	"substitution"	"(-)RsaI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_206"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00123"	"11"	"c.832A>G"	"r.(?)"	"p.(Asn278Asp)"	"N278D"	"{SNPIDrs370920635: rs370920635}"	"missense/polymorphism?, found in one normal chromosome"	"Protomer destabilisation"	"{AKU database}"	""	"AKU_POL_17"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_POL_17"	""	"{AKU database}"	""	"1"	"Slovakia"	"1"	"1"
"AKU_00080"	"11"	"c.860C>A"	"r.(?)"	"p.(Ser287*)"	"S287*"	""	"nonsense"	""	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_108a"	"substitution"	"(-)TspRI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_108"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"Algeria"	"2"	"1"
"AKU_00080"	"11"	"c.860C>A"	"r.(?)"	"p.(Ser287*)"	"S287*"	""	"nonsense"	""	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_108a"	"substitution"	"(-)TspRI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_108"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Algeria"	"2"	"1"
"AKU_00080"	"11"	"c.860C>A"	"r.(?)"	"p.(Ser287*)"	"S287*"	""	"nonsense"	""	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_108b"	"substitution"	"(-)TspRI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_108"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"Algeria"	"2"	"1"
"AKU_00081"	"11"	"c.873C>A"	"r.(?)"	"p.(Asp291Glu)"	"D291E"	"{SNPIDrs754428438: rs754428438}"	"missense"	"Hexamer disruption"	"{PMID10205262: de Bernabe et al. (1999a)}"	""	"AKU_DB_21a"	"substitution"	"(+)NspI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_21"	"AKU"	"{PMID10205262: de Bernabe et al. (1999a)}"	"Compound heterozygous"	"1"	"Spain"	"1"	"1"
"AKU_00081"	"11"	"c.873C>A"	"r.(?)"	"p.(Asp291Glu)"	"D291E"	"{SNPIDrs754428438: rs754428438}"	"missense"	"Hexamer disruption"	"{PMID10205262: de Bernabe et al. (1999a)}"	""	"AKU_DB_72a"	"substitution"	"(+)NspI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_72"	"AKU"	"{AKU database}"	"Homozygot"	"1"	"Portugal"	"1"	"1"
"AKU_00081"	"11"	"c.873C>A"	"r.(?)"	"p.(Asp291Glu)"	"D291E"	"{SNPIDrs754428438: rs754428438}"	"missense"	"Hexamer disruption"	"{PMID10205262: de Bernabe et al. (1999a)}"	""	"AKU_DB_72b"	"substitution"	"(+)NspI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_72"	"AKU"	"{AKU database}"	"Homozygot"	"1"	"Portugal"	"1"	"1"
"AKU_00082"	"11"	"c.875A>G"	"r.(?)"	"p.(His292Arg)"	"H292R"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID11001939: Rodriguez et al. (2000)}"	""	"AKU_DB_33a"	"substitution"	"(+)BsgI; (-)NlaIII"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_33"	"AKU"	"{PMID11001939: Rodriguez et al. (2000)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00122"	"11i"	"c.879+18A>G"	"r.(?)"	"p.(?)"	"ivs11+18A>G"	"{SNPIDrs1800700: rs1800700}"	"polymorphism"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_POL_16"	"substitution"	""	"0,02(G)"	"DNA"	"SEQ"	"intron"	"AKU_POL_16"	""	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"1"	""	"1"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_DB_102b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_102"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_DB_2b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_2"	"AKU"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"Compound heterozygous"	"1"	"Spain"	"3"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_DB_5a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_5"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Compound heterozygous"	"1"	"France"	"3"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_DB_50b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_50"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_DB_6a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_6"	"AKU"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"Homozygot"	"1"	"Germany"	"1"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_DB_6b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_6"	"AKU"	"{PMID8782815: Fernandez Canon et al. (1996)}"	"Homozygot"	"1"	"Germany"	"1"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_DB_84a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_84"	"AKU"	"{AKU database}"	"Homozygot"	"1"	"Portugal"	"1"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_DB_84b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_84"	"AKU"	"{AKU database}"	"Homozygot"	"1"	"Portugal"	"1"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_SRS_13a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_13"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_SRS_2b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_2"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_VIL_31a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_31"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_VIL_33a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_33"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_VIL_67a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_67"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_VIL_75a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_75"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_AQR_12a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_AQR_12"	"AKU"	"Aquaron et al. (2009)"	"Homozygot"	"1"	"La Reunion"	"1"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_AQR_12b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_AQR_12"	"AKU"	"Aquaron et al. (2009)"	"Homozygot"	"1"	"La Reunion"	"1"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_AQR_14b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_AQR_14"	"AKU"	"Aquaron et al. (2009)"	"Compound heterozygous"	"1"	"La Reunion"	"1"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_DB_131a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_131"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_DB_214b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_214"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_DB_215b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_215"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_DB_225b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_225"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_DB_229b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_229"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_DB_273b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_273"	"AKU"	"submitted, Dr. Jeannette Usher"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_DB_271a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_271"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_DB_271b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_271"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_DB_277b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_277"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_TR2_0233b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0233"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00083"	"12"	"c.899T>G"	"r.(?)"	"p.(Val300Gly)"	"V300G"	"{SNPIDrs120074170: rs120074170}"	"missense"	"Protomer destabilisation"	"{PMID8782815: Fernandez Canon et al. (1996)}"	""	"AKU_TR2_0237a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0237"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00084"	"12"	"c.914C>T"	"r.(?)"	"p.(Ser305Phe)"	"S305F"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_VIL_93c"	"substitution"	"(-)DrdI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_93"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00162"	"12"	"c.926G>T"	"r.(?)"	"p.(Gly309Val)"	"G309V"	""	"missense"	"Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_194a"	"substitution"	"(+)SfcI;(-)BpmI, BsaJI, BssKI, BstNI, PspGI, ScrFI, StyD4I"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_194"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00162"	"12"	"c.926G>T"	"r.(?)"	"p.(Gly309Val)"	"G309V"	""	"missense"	"Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_194b"	"substitution"	"(+)SfcI;(-)BpmI, BsaJI, BssKI, BstNI, PspGI, ScrFI, StyD4I"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_194"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00162"	"12"	"c.926G>T"	"r.(?)"	"p.(Gly309Val)"	"G309V"	""	"missense"	"Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_233a"	"substitution"	"(+)SfcI;(-)BpmI, BsaJI, BssKI, BstNI, PspGI, ScrFI, StyD4I"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_233"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00162"	"12"	"c.926G>T"	"r.(?)"	"p.(Gly309Val)"	"G309V"	""	"missense"	"Hexamer disruption"	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_233b"	"substitution"	"(+)SfcI;(-)BpmI, BsaJI, BssKI, BstNI, PspGI, ScrFI, StyD4I"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_233"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00238"	"12"	"c.946G>A"	"r.(?)"	"p.(Val316Ile)"	"V316I"	""	"missense"	"unknown"	"Akbaba et al. 2020"	""	"AKU_DB_357b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_357"	"AKU"	"Akbaba et al. 2020"	"Compound heterozygous"	"1"	"Turkey"	"1"	"1"
"AKU_00085"	"12"	"c.961C>T"	"r.(?)"	"p.(Arg321*)"	"R321*"	""	"nonsense"	""	"{PMID11001939: Rodriguez et al. (2000)}"	"CpG"	"AKU_DB_19b"	"substitution"	"(-)TaqI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_19"	"AKU"	"{PMID11001939: Rodriguez et al. (2000)}"	"Compound heterozygous"	"1"	"Switzerland"	"1"	"1"
"AKU_00085"	"12"	"c.961C>T"	"r.(?)"	"p.(Arg321*)"	"R321*"	""	"nonsense"	""	"{PMID11001939: Rodriguez et al. (2000)}"	"CpG"	"AKU_TR2_0138a"	"substitution"	"(-)TaqI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0138"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00086"	"12"	"c.962G>A"	"r.(?)"	"p.(Arg321Gln)"	"R321Q"	"{SNPIDrs774374625: rs774374625}"	"missense (published nt change is inconsistent with gene sequence, nt change deduced)"	"Protomer destabilisation"	"{PMID19862842: Vilboux et al. (2009)}"	"CpG"	"AKU_VIL_53b"	"substitution"	"(-)TaqI "	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_53"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00087"	"12"	"c.964T>C"	"r.(?)"	"p.(Trp322Arg)"	"W322R"	""	"missense"	"Hexamer disruption"	"{PMID11001939: Rodriguez et al. (2000)}"	"CCC triplet"	"AKU_DB_48a"	"substitution"	"(-)BstXI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_48"	"AKU"	"{PMID11001939: Rodriguez et al. (2000)}"	"Homozygot"	"1"	"Spain"	"1"	"1"
"AKU_00087"	"12"	"c.964T>C"	"r.(?)"	"p.(Trp322Arg)"	"W322R"	""	"missense"	"Hexamer disruption"	"{PMID11001939: Rodriguez et al. (2000)}"	"CCC triplet"	"AKU_DB_48b"	"substitution"	"(-)BstXI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_48"	"AKU"	"{PMID11001939: Rodriguez et al. (2000)}"	"Homozygot"	"1"	"Spain"	"1"	"1"
"AKU_00139"	"12"	"c.970dupG"	"r.(?)"	"p.(Val324Glyfs*3)"	"V324fs"	"{SNPIDrs34214309: rs34214309}"	"frameshift"	""	"{PMID19862842: Vilboux et al. (2009)}"	"CCC triplet"	"AKU_POL_33?"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_POL_33"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"1"	"USA"	"1"	"1"
"AKU_00139"	"12"	"c.970dupG"	"r.(?)"	"p.(Val324Glyfs*3)"	"V324fs"	"{SNPIDrs34214309: rs34214309}"	"frameshift"	""	"{PMID19862842: Vilboux et al. (2009)}"	"CCC triplet"	"AKU_DB_167b"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_167"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00157"	"12"	"c.986T>G "	"r.(?)"	"p.(Phe329Cys)"	"F329C"	""	"missense"	"Protomer destabilisation"	"{PMID23353776: Yang et al. (2013)}"	""	"AKU_DB_163a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_163"	"AKU"	"{PMID23353776: Yang et al. (2013)}"	"Compound heterozygous"	"1"	"China"	"1"	"1"
"AKU_00191"	"12"	"c.990G>C"	"r.(?)"	"p.(Arg330Ser)"	"R330S"	""	"missense"	"Protomer destabilisation"	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_230a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_230"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00191"	"12"	"c.990G>C"	"r.(?)"	"p.(Arg330Ser)"	"R330S"	""	"missense"	"Protomer destabilisation"	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_250a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_250"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00191"	"12"	"c.990G>C"	"r.(?)"	"p.(Arg330Ser)"	"R330S"	""	"missense"	"Protomer destabilisation"	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_250b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_250"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00088"	"12"	"c.990G>T"	"r.(?)"	"p.(Arg330Ser)"	"R330S"	"{SNPIDrs120074171: rs120074171}"	"missense"	"Protomer destabilisation"	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_37a"	"substitution"	"(-)StuI, HaeIII; (+)AhdI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_37"	"AKU"	"{PMID10594001: de Bernabe et al. (1999b)}"	"Homozygot"	"1"	"Finland"	"1"	"1"
"AKU_00088"	"12"	"c.990G>T"	"r.(?)"	"p.(Arg330Ser)"	"R330S"	"{SNPIDrs120074171: rs120074171}"	"missense"	"Protomer destabilisation"	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_37b"	"substitution"	"(-)StuI, HaeIII; (+)AhdI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_37"	"AKU"	"{PMID10594001: de Bernabe et al. (1999b)}"	"Homozygot"	"1"	"Finland"	"1"	"1"
"AKU_00088"	"12"	"c.990G>T"	"r.(?)"	"p.(Arg330Ser)"	"R330S"	"{SNPIDrs120074171: rs120074171}"	"missense"	"Protomer destabilisation"	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_DB_358b"	"substitution"	"(-)StuI, HaeIII; (+)AhdI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_358"	"AKU"	"Akbaba et al. 2020"	"Compound heterozygous"	"1"	"Turkey"	"1"	"1"
"AKU_00088"	"12"	"c.990G>T"	"r.(?)"	"p.(Arg330Ser)"	"R330S"	"{SNPIDrs120074171: rs120074171}"	"missense"	"Protomer destabilisation"	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_08a"	"substitution"	"(-)StuI, HaeIII; (+)AhdI"	""	"DNA"	"SEQ"	"exon"	"AKU_TU_08"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00088"	"12"	"c.990G>T"	"r.(?)"	"p.(Arg330Ser)"	"R330S"	"{SNPIDrs120074171: rs120074171}"	"missense"	"Protomer destabilisation"	"{PMID10594001: de Bernabe et al. (1999b)}"	""	"AKU_TU_08b"	"substitution"	"(-)StuI, HaeIII; (+)AhdI"	""	"DNA"	"SEQ"	"exon"	"AKU_TU_08"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00184"	"12"	"c.995C>G"	"r.(?)"	"p.(Pro332Arg)"	"P332R"	""	"missense"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR2_0320b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0320"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00184"	"12"	"c.995C>G"	"r.(?)"	"p.(Pro332Arg)"	"P332R"	""	"missense"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR2_0324b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0324"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Belgium"	"1"	"1"
"AKU_00089"	"12i"	"c.1006+2T>A"	"r.(spl?)"	"p.(Asp294Glyfs*4)"	"ivs12+2T>A"	"{SNPIDrs1320184173: rs1320184173}"	"aberrant splicing (DS)/exon skipping/frameshift?"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_70b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_VIL_70"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"2"	"1"
"AKU_00089"	"12i"	"c.1006+2T>A"	"r.(spl?)"	"p.(Asp294Glyfs*4)"	"ivs12+2T>A"	"{SNPIDrs1320184173: rs1320184173}"	"aberrant splicing (DS)/exon skipping/frameshift?"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_DB_447b"	"substitution"	""	""	"DNA"	"NGS"	"intron"	"AKU_DB_447"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Compound heterozygous"	"1"	"Germany"	"1"	"1"
"AKU_00212"	"12i"	"c.1006+6T>C"	"r.(?)"	"p.(?)"	"ivs12+6T>C"	""	"aberrant splicing (DS)/exon skipping/frameshift"	""	"Cho a Kim 2018"	""	"AKU_DB_279b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_279"	"AKU"	"Cho a Kim 2018"	"Compound heterozygous"	"1"	"Korea"	"1"	"1"
"AKU_00135"	"12i"	"c.1007-170A>G"	"r.(?)"	"p.(?)"	"ivs12-170A>G"	""	"polymorphism"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_POL_29"	"substitution"	""	"0,006(G)"	"DNA"	"SEQ"	"intron"	"AKU_POL_29"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"1"	""	"1"	"1"
"AKU_00090"	"12i"	"c.1007-2A>T"	"r.(spl?)"	"p.(Arg336Serfs*5)"	"ivs12-2A>T"	"{SNPIDrs1261269370: rs1261269370}"	"aberrant splicing (AS)/exon skipping/frameshift?"	""	"{PMID19862842: Vilboux et al. (2009)}"	"CCC triplet"	"AKU_VIL_14a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_VIL_14"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00090"	"12i"	"c.1007-2A>T"	"r.(spl?)"	"p.(Arg336Serfs*5)"	"ivs12-2A>T"	"{SNPIDrs1261269370: rs1261269370}"	"aberrant splicing (AS)/exon skipping/frameshift?"	""	"{PMID19862842: Vilboux et al. (2009)}"	"CCC triplet"	"AKU_VIL_36c"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_VIL_36"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00090"	"12i"	"c.1007-2A>T"	"r.(spl?)"	"p.(Arg336Serfs*5)"	"ivs12-2A>T"	"{SNPIDrs1261269370: rs1261269370}"	"aberrant splicing (AS)/exon skipping/frameshift?"	""	"{PMID19862842: Vilboux et al. (2009)}"	"CCC triplet"	"AKU_DB_193b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_193"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Canada"	"1"	"1"
"AKU_00090"	"12i"	"c.1007-2A>T"	"r.(spl?)"	"p.(Arg336Serfs*5)"	"ivs12-2A>T"	"{SNPIDrs1261269370: rs1261269370}"	"aberrant splicing (AS)/exon skipping/frameshift"	""	"{PMID19862842: Vilboux et al. (2009)}"	"CCC triplet"	"AKU_DB_258b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_258"	"AKU"	"submitted, Dr. Jeannette Usher"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00090"	"12i"	"c.1007-2A>T"	"r.(spl?)"	"p.(Arg336Serfs*5)"	"ivs12-2A>T"	"{SNPIDrs1261269370: rs1261269370}"	"aberrant splicing (AS)/exon skipping/frameshift?"	""	"{PMID19862842: Vilboux et al. (2009)}"	"CCC triplet"	"AKU_DB_282a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_282"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00090"	"12i"	"c.1007-2A>T"	"r.(spl?)"	"p.(Arg336Serfs*5)"	"ivs12-2A>T"	"{SNPIDrs1261269370: rs1261269370}"	"aberrant splicing (AS)/exon skipping/frameshift?"	""	"{PMID19862842: Vilboux et al. (2009)}"	"CCC triplet"	"AKU_DB_282b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_282"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00090"	"12i"	"c.1007-2A>T"	"r.(spl?)"	"p.(Arg336Serfs*5)"	"ivs12-2A>T"	"{SNPIDrs1261269370: rs1261269370}"	"aberrant splicing (AS)/exon skipping/frameshift?"	""	"{PMID19862842: Vilboux et al. (2009)}"	"CCC triplet"	"AKU_DB_320b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_320"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"2"	"1"
"AKU_00090"	"12i"	"c.1007-2A>T"	"r.(spl?)"	"p.(Arg336Serfs*5)"	"ivs12-2A>T"	"{SNPIDrs1261269370: rs1261269370}"	"aberrant splicing (AS)/exon skipping/frameshift?"	""	"{PMID19862842: Vilboux et al. (2009)}"	"CCC triplet"	"AKU_TU_09a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_TU_09"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"2"	"1"
"AKU_00090"	"12i"	"c.1007-2A>T"	"r.(spl?)"	"p.(Arg336Serfs*5)"	"ivs12-2A>T"	"{SNPIDrs1261269370: rs1261269370}"	"aberrant splicing (AS)/exon skipping/frameshift?"	""	"{PMID19862842: Vilboux et al. (2009)}"	"CCC triplet"	"AKU_TU_09b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_TU_09"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"2"	"1"
"AKU_00090"	"12i"	"c.1007-2A>T"	"r.(spl?)"	"p.(Arg336Serfs*5)"	"ivs12-2A>T"	"{SNPIDrs1261269370: rs1261269370}"	"aberrant splicing (AS)/exon skipping/frameshift?"	""	"{PMID19862842: Vilboux et al. (2009)}"	"CCC triplet"	"AKU_TU_34a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_TU_34"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00090"	"12i"	"c.1007-2A>T"	"r.(spl?)"	"p.(Arg336Serfs*5)"	"ivs12-2A>T"	"{SNPIDrs1261269370: rs1261269370}"	"aberrant splicing (AS)/exon skipping/frameshift?"	""	"{PMID19862842: Vilboux et al. (2009)}"	"CCC triplet"	"AKU_TU_34b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_TU_34"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00090"	"12i"	"c.1007-2A>T"	"r.(spl?)"	"p.(Arg336Serfs*5)"	"ivs12-2A>T"	"{SNPIDrs1261269370: rs1261269370}"	"aberrant splicing (AS)/exon skipping/frameshift?"	""	"{PMID19862842: Vilboux et al. (2009)}"	"CCC triplet"	"AKU_TU_35a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_TU_35"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00090"	"12i"	"c.1007-2A>T"	"r.(spl?)"	"p.(Arg336Serfs*5)"	"ivs12-2A>T"	"{SNPIDrs1261269370: rs1261269370}"	"aberrant splicing (AS)/exon skipping/frameshift?"	""	"{PMID19862842: Vilboux et al. (2009)}"	"CCC triplet"	"AKU_TU_35b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_TU_35"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00090"	"12i"	"c.1007-2A>T"	"r.(spl?)"	"p.(Arg336Serfs*5)"	"ivs12-2A>T"	"{SNPIDrs1261269370: rs1261269370}"	"aberrant splicing (AS)/exon skipping/frameshift"	""	"{PMID19862842: Vilboux et al. (2009)}"	"CCC triplet"	"AKU_DB_430a"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_430"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00090"	"12i"	"c.1007-2A>T"	"r.(spl?)"	"p.(Arg336Serfs*5)"	"ivs12-2A>T"	"{SNPIDrs1261269370: rs1261269370}"	"aberrant splicing (AS)/exon skipping/frameshift"	""	"{PMID19862842: Vilboux et al. (2009)}"	"CCC triplet"	"AKU_DB_430b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_430"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00124"	"13i"	"al.173-199;(CA)n"	"r.(?)"	"p.(?)"	"HGO-2, D3S4497"	""	"polymorphism,GDB:5584249/UniSTS:474554  "	""	"{PMID9244427: Granadino et al. (1997)}"	""	"AKU_POL_18"	"dinucleotide repeat"	""	"0,208(al.187)"	"DNA"	"SEQ"	"intron"	"AKU_POL_18"	""	"{PMID9244427: Granadino et al. (1997)}"	""	"1"	""	"1"	"1"
"AKU_00196"	"13"	"c.1007-1709_1188+1121del"	"r.(?)"	"p.(Arg336Serfs*5)"	"ex13 del"	""	"deletion"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_11b"	"deletion"	""	""	"DNA"	"SEQ, MLPA"	"intron/exon"	"AKU_DB_11"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Compound heterozygous"	"1"	"France/Italy"	"2"	"1"
"AKU_00196"	"13"	"c.1007-1709_1188+1121del"	"r.(?)"	"p.(Arg336Serfs*5)"	"ex13 del"	""	"deletion"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_170a"	"deletion"	""	""	"DNA"	"SEQ, MLPA"	"intron/exon"	"AKU_DB_170"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00196"	"13"	"c.1007-1709_1188+1121del"	"r.(?)"	"p.(Arg336Serfs*5)"	"ex13 del"	""	"deletion"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_176b"	"deletion"	""	""	"DNA"	"SEQ, MLPA"	"intron/exon"	"AKU_DB_176"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00196"	"13"	"c.1007-1709_1188+1121del"	"r.(?)"	"p.(Arg336Serfs*5)"	"ex13 del"	""	"deletion"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_189b"	"deletion"	""	""	"DNA"	"SEQ, MLPA"	"intron/exon"	"AKU_DB_189"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00196"	"13"	"c.1007-1709_1188+1121del"	"r.(?)"	"p.(Arg336Serfs*5)"	"ex13 del"	""	"deletion"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_230b"	"deletion"	""	""	"DNA"	"SEQ, MLPA"	"intron/exon"	"AKU_DB_230"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00196"	"13"	"c.1007-1709_1188+1121del"	"r.(?)"	"p.(Arg336Serfs*5)"	"ex13 del"	""	"deletion"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_439a"	"deletion"	""	""	"DNA"	"SEQ, MLPA"	"intron/exon"	"AKU_DB_439"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00196"	"13"	"c.1007-1709_1188+1121del"	"r.(?)"	"p.(Arg336Serfs*5)"	"ex13 del"	""	"deletion"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_439b"	"deletion"	""	""	"DNA"	"SEQ, MLPA"	"intron/exon"	"AKU_DB_439"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00196"	"13"	"c.1007-1709_1188+1121del"	"r.(?)"	"p.(Arg336Serfs*5)"	"ex13 del"	""	"deletion"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_440a"	"deletion"	""	""	"DNA"	"SEQ, MLPA"	"intron/exon"	"AKU_DB_440"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00236"	"13"	"c.1007G>A"	"r.(?)"	"p.(Arg336Lys)"	"R336K"	""	"missense"	"Hexamer disruption, Active site disruption"	"Kilavuz et al. 2018"	"CCC triplet"	"AKU_DB_344a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_344"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00236"	"13"	"c.1007G>A"	"r.(?)"	"p.(Arg336Lys)"	"R336K"	""	"missense"	"Hexamer disruption, Active site disruption"	"Kilavuz et al. 2018"	"CCC triplet"	"AKU_DB_344b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_344"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00198"	"13"	"c.1007G>C"	"r.(?)"	"p.(Arg336Thr)"	"R336T"	""	"missense"	"Hexamer disruption, Active site disruption"	"{PMID30737480: Ascher et al. (2019)}"	"CCC triplet"	"AKU_TR3_0124a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_TR3_0124"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Ireland"	"1"	"1"
"AKU_00198"	"13"	"c.1007G>C"	"r.(?)"	"p.(Arg336Thr)"	"R336T"	""	"missense"	"Hexamer disruption, Active site disruption"	"{PMID30737480: Ascher et al. (2019)}"	"CCC triplet"	"AKU_TR3_0124b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_TR3_0124"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Ireland"	"1"	"1"
"AKU_00140"	"13"	"c.1008dupG"	"r.(?)"	"p.(Asn337Glufs*5)"	"N337fs"	"{SNPIDrs35952153: rs35952153}"	"frameshift/splice acceptor site"	""	"{PMID19862842: Vilboux et al. (2009)}"	"CCC triplet"	"AKU_POL_34?"	"insertion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_POL_34"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"1"	""	"1"	"1"
"AKU_00173"	"13"	"c.1009A>G"	"r.(?)"	"p.(Asn337Asp)"	"N337D"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID25681086: Usher et al. (2015)}"	"CCC triplet"	"AKU_DB_224a"	"substitution"	"(+)BsmFI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_224"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00173"	"13"	"c.1009A>G"	"r.(?)"	"p.(Asn337Asp)"	"N337D"	""	"missense"	"Protomer destabilisation, Hexamer disruption"	"{PMID25681086: Usher et al. (2015)}"	"CCC triplet"	"AKU_DB_224b"	"substitution"	"(+)BsmFI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_224"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00091"	"13"	"c.1016delT"	"r.(?)"	"p.(Met339Argfs*30)"	"M339fs"	""	"frameshift"	""	"{PMID12501223: Phornphutkul et al. (2002)}"	""	"AKU_PHO_22"	"substitution"	"(+)PstI, SfcI"	""	"DNA"	"SEQ"	"exon"	"AKU_PHO_22"	"AKU"	"{PMID12501223: Phornphutkul et al. (2002)}"	"?"	"1"	"USA"	"1"	"1"
"AKU_00092"	"13"	"c.1017_1019delGAGinsTA"	"r.(?)"	"p.(Met339Ilefs*30)"	"M339fs"	"{SNPIDrs1057517081: rs1057517081}"	"frameshift"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_15b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_15"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00092"	"13"	"c.1017_1019delGAGinsTA"	"r.(?)"	"p.(Met339Ilefs*30)"	"M339fs"	"{SNPIDrs1057517081: rs1057517081}"	"frameshift"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_59a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_59"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00092"	"13"	"c.1017_1019delGAGinsTA"	"r.(?)"	"p.(Met339Ilefs*30)"	"M339fs"	"{SNPIDrs1057517081: rs1057517081}"	"frameshift"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_81a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_81"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00092"	"13"	"c.1017_1019delGAGinsTA"	"r.(?)"	"p.(Met339Ilefs*30)"	"M339fs"	"{SNPIDrs1057517081: rs1057517081}"	"frameshift"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_81b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_81"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00092"	"13"	"c.1017_1019delGAGinsTA"	"r.(?)"	"p.(Met339Ilefs*30)"	"M339fs"	"{SNPIDrs1057517081: rs1057517081}"	"frameshift"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_94c"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_94"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00092"	"13"	"c.1017_1019delGAGinsTA"	"r.(?)"	"p.(Met339Ilefs*30)"	"M339fs"	"{SNPIDrs1057517081: rs1057517081}"	"frameshift"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_TR2_0116a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0116"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Northern Ireland"	"3"	"1"
"AKU_00092"	"13"	"c.1017_1019delGAGinsTA"	"r.(?)"	"p.(Met339Ilefs*30)"	"M339fs"	"{SNPIDrs1057517081: rs1057517081}"	"frameshift"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_TR2_0116b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0116"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Northern Ireland"	"3"	"1"
"AKU_00251"	"13"	"c.1019G>T"	"r.(?)"	"p.(Ser340Ile)"	"S340I"	""	"missense"	"?"	"{PMID32212000: Danda et al. (2020)}"	""	"AKU_DB_381a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_381"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00245"	"13"	"c.1031delG"	"r.(?)"	"p.(Gly344Aspfs*25)"	"G344fs"	"{SNPIDrs1295089623: rs1295089623}"	"frameshift"	""	"{PMID34686677: Lee et al. (2022)}"	"CCC triplet"	"AKU_DB_423b"	"deletion"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_423"	"AKU"	"{PMID34686677: Lee et al. (2022)}"	"Compound heterozygous"	"1"	"Taiwan"	"1"	"1"
"AKU_00207"	"13"	"c.1034T>G"	"r.(?)"	"p.(Leu345Arg)"	"L345R"	""	"missense"	"Protomer destabilisation"	"submitted, Dr. Jeannette Usher"	""	"AKU_DB_256a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_256"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00207"	"13"	"c.1034T>G"	"r.(?)"	"p.(Leu345Arg)"	"L345R"	""	"missense"	"Protomer destabilisation"	"submitted, Dr. Jeannette Usher"	""	"AKU_DB_256b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_256"	"AKU"	"submitted, Dr. Jeannette Usher"	"Homozygot"	"1"	"United Kingdom"	"1"	"1"
"AKU_00183"	"13"	"c.1037T>C"	"r.(?)"	"p.(Ile346Thr)"	"I346T"	"{SNPIDrs1299204471: rs1299204471}"	"missense"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR2_0311a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0311"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France"	"2"	"1"
"AKU_00252"	"13"	"c.1039C>T"	"r.(?)"	"p.(Arg347*)"	"R347*"	"{SNPIDrs975005146: rs975005146}"	"nonsense"	""	"{PMID32212000: Danda et al. (2020)}"	""	"AKU_DB_382a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_382"	"AKU"	"{PMID32212000: Danda et al. (2020)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00199"	"13"	"c.1040G>C"	"r.(?)"	"p.(Arg347Pro)"	"R347P"	""	"missense"	"Active site disruption"	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR3_0125b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR3_0125"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00201"	"13"	"c.1049A>G"	"r.(?)"	"p.(Tyr350Cys)"	"Y350C"	""	"missense"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_243b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_243"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00154"	"13"	"c.1057A>C"	"r.(?)"	"p.(Lys353Gln)"	"K353Q"	""	"missense"	"Active site disruption"	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_31b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_31"	"AKU"	"{PMID10819641: Porfirio et al. (2000)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00154"	"13"	"c.1057A>C"	"r.(?)"	"p.(Lys353Gln)"	"K353Q"	""	"missense"	"Active site disruption"	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_446a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_446"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00154"	"13"	"c.1057A>C"	"r.(?)"	"p.(Lys353Gln)"	"K353Q"	""	"missense"	"Active site disruption"	"{PMID25804398:Nemethova et al. (2016)}"	""	"AKU_DB_446b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_446"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00258"	"13"	"c.1060C>T"	"r.(?)"	"p.(Gln354*)"	"Q354*"	"{SNPIDrs780333531: rs780333531}"	"nonsense"	""	"submitted, Dr. Pelin Teke Kisa"	""	"AKU_DB_433a"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_433"	"AKU"	"submitted, Dr. Pelin Teke Kisa"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00258"	"13"	"c.1060C>T"	"r.(?)"	"p.(Gln354*)"	"Q354*"	"{SNPIDrs780333531: rs780333531}"	"nonsense"	""	"submitted, Dr. Pelin Teke Kisa"	""	"AKU_DB_433b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_433"	"AKU"	"submitted, Dr. Pelin Teke Kisa"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00093"	"13"	"c.1075C>T"	"r.(?)"	"p.(Pro359Leu)"	"P359L"	"{SNPIDrs764037565: rs764037565}"	"missense"	"Active site disruption"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_5a"	"substitution"	"(-)BstNI, ScrFI "	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_5"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00093"	"13"	"c.1075C>T"	"r.(?)"	"p.(Pro359Leu)"	"P359L"	"{SNPIDrs764037565: rs764037565}"	"missense"	"Active site disruption"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_DB_209b"	"substitution"	"(-)BstNI, ScrFI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_209"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00095"	"13"	"c.1078G>C"	"r.(?)"	"p.(Gly360Arg)"	"G360R"	"{SNPIDrs368717991: rs368717991}"	"missense"	"Protomer destabilisation"	"{PMID10819641: Porfirio et al. (2000)}"	"CCC triplet"	"AKU_DB_30a"	"substitution"	"(-)BstNI, ScrFI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_30"	"AKU"	"{PMID10819641: Porfirio et al. (2000)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00095"	"13"	"c.1078G>C"	"r.(?)"	"p.(Gly360Arg)"	"G360R"	"{SNPIDrs368717991: rs368717991}"	"missense"	"Protomer destabilisation"	"{PMID10819641: Porfirio et al. (2000)}"	"CCC triplet"	"AKU_DB_30b"	"substitution"	"(-)BstNI, ScrFI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_30"	"AKU"	"{PMID10819641: Porfirio et al. (2000)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00095"	"13"	"c.1078G>C"	"r.(?)"	"p.(Gly360Arg)"	"G360R"	"{SNPIDrs368717991: rs368717991}"	"missense"	"Protomer destabilisation"	"{PMID10819641: Porfirio et al. (2000)}"	"CCC triplet"	"AKU_DB_31a"	"substitution"	"(-)BstNI, ScrFI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_31"	"AKU"	"{PMID10819641: Porfirio et al. (2000)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00095"	"13"	"c.1078G>C"	"r.(?)"	"p.(Gly360Arg)"	"G360R"	"{SNPIDrs368717991: rs368717991}"	"missense"	"Protomer destabilisation"	"{PMID10819641: Porfirio et al. (2000)}"	"CCC triplet"	"AKU_GRA_1b"	"substitution"	"(-)BstNI, ScrFI "	""	"DNA"	"SEQ"	"exon"	"AKU_GRA_1"	"AKU"	"{PMID19306858: Grasko et al. (2009)}"	"Compound heterozygous"	"1"	"Australia"	"1"	"1"
"AKU_00095"	"13"	"c.1078G>C"	"r.(?)"	"p.(Gly360Arg)"	"G360R"	"{SNPIDrs368717991: rs368717991}"	"missense"	"Protomer destabilisation"	"{PMID10819641: Porfirio et al. (2000)}"	"CCC triplet"	"AKU_VIL_21a"	"substitution"	"(-)BstNI, ScrFI "	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_21"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00095"	"13"	"c.1078G>C"	"r.(?)"	"p.(Gly360Arg)"	"G360R"	"{SNPIDrs368717991: rs368717991}"	"missense"	"Protomer destabilisation"	"{PMID10819641: Porfirio et al. (2000)}"	"CCC triplet"	"AKU_VIL_31b"	"substitution"	"(-)BstNI, ScrFI "	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_31"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00095"	"13"	"c.1078G>C"	"r.(?)"	"p.(Gly360Arg)"	"G360R"	"{SNPIDrs368717991: rs368717991}"	"missense"	"Protomer destabilisation"	"{PMID10819641: Porfirio et al. (2000)}"	"CCC triplet"	"AKU_VIL_46b"	"substitution"	"(-)BstNI, ScrFI "	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_46"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA/India"	"1"	"1"
"AKU_00095"	"13"	"c.1078G>C"	"r.(?)"	"p.(Gly360Arg)"	"G360R"	"{SNPIDrs368717991: rs368717991}"	"missense"	"Protomer destabilisation"	"{PMID10819641: Porfirio et al. (2000)}"	"CCC triplet"	"AKU_VIL_65b"	"substitution"	"(-)BstNI, ScrFI "	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_65"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00095"	"13"	"c.1078G>C"	"r.(?)"	"p.(Gly360Arg)"	"G360R"	"{SNPIDrs368717991: rs368717991}"	"missense"	"Protomer destabilisation"	"{PMID10819641: Porfirio et al. (2000)}"	"CCC triplet"	"AKU_VIL_68b"	"substitution"	"(-)BstNI, ScrFI "	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_68"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00095"	"13"	"c.1078G>C"	"r.(?)"	"p.(Gly360Arg)"	"G360R"	"{SNPIDrs368717991: rs368717991}"	"missense"	"Protomer destabilisation"	"{PMID10819641: Porfirio et al. (2000)}"	"CCC triplet"	"AKU_VIL_75b"	"substitution"	"(-)BstNI, ScrFI "	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_75"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00095"	"13"	"c.1078G>C"	"r.(?)"	"p.(Gly360Arg)"	"G360R"	"{SNPIDrs368717991: rs368717991}"	"missense"	"Protomer destabilisation"	"{PMID10819641: Porfirio et al. (2000)}"	"CCC triplet"	"AKU_VIL_77b"	"substitution"	"(-)BstNI, ScrFI "	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_77"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00095"	"13"	"c.1078G>C"	"r.(?)"	"p.(Gly360Arg)"	"G360R"	"{SNPIDrs368717991: rs368717991}"	"missense"	"Protomer destabilisation"	"{PMID10819641: Porfirio et al. (2000)}"	"CCC triplet"	"AKU_VIL_95b"	"substitution"	"(-)BstNI, ScrFI "	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_95"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00095"	"13"	"c.1078G>C"	"r.(?)"	"p.(Gly360Arg)"	"G360R"	"{SNPIDrs368717991: rs368717991}"	"missense"	"Protomer destabilisation"	"{PMID10819641: Porfirio et al. (2000)}"	"CCC triplet"	"AKU_DB_227a"	"substitution"	"(-)BstNI, ScrFI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_227"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom/France"	"1"	"1"
"AKU_00095"	"13"	"c.1078G>C"	"r.(?)"	"p.(Gly360Arg)"	"G360R"	"{SNPIDrs368717991: rs368717991}"	"missense"	"Protomer destabilisation"	"{PMID10819641: Porfirio et al. (2000)}"	"CCC triplet"	"AKU_DB_281a"	"substitution"	"(-)BstNI, ScrFI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_281"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00095"	"13"	"c.1078G>C"	"r.(?)"	"p.(Gly360Arg)"	"G360R"	"{SNPIDrs368717991: rs368717991}"	"missense"	"Protomer destabilisation"	"{PMID10819641: Porfirio et al. (2000)}"	"CCC triplet"	"AKU_DB_281b"	"substitution"	"(-)BstNI, ScrFI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_281"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00095"	"13"	"c.1078G>C"	"r.(?)"	"p.(Gly360Arg)"	"G360R"	"{SNPIDrs368717991: rs368717991}"	"missense"	"Protomer destabilisation"	"{PMID10819641: Porfirio et al. (2000)}"	"CCC triplet"	"AKU_TR2_0135a"	"substitution"	"(-)BstNI, ScrFI "	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0135"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France"	"2"	"1"
"AKU_00095"	"13"	"c.1078G>C"	"r.(?)"	"p.(Gly360Arg)"	"G360R"	"{SNPIDrs368717991: rs368717991}"	"missense"	"Protomer destabilisation"	"{PMID10819641: Porfirio et al. (2000)}"	"CCC triplet"	"AKU_TR2_0122b"	"substitution"	"(-)BstNI, ScrFI "	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0122"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Spain"	"1"	"1"
"AKU_00095"	"13"	"c.1078G>C"	"r.(?)"	"p.(Gly360Arg)"	"G360R"	"{SNPIDrs368717991: rs368717991}"	"missense"	"Protomer destabilisation"	"{PMID10819641: Porfirio et al. (2000)}"	"CCC triplet"	"AKU_TR2_0224a"	"substitution"	"(-)BstNI, ScrFI "	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0224"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"India"	"1"	"1"
"AKU_00095"	"13"	"c.1078G>C"	"r.(?)"	"p.(Gly360Arg)"	"G360R"	"{SNPIDrs368717991: rs368717991}"	"missense"	"Protomer destabilisation"	"{PMID10819641: Porfirio et al. (2000)}"	"CCC triplet"	"AKU_TR3_0126b"	"substitution"	"(-)BstNI, ScrFI "	""	"DNA"	"SEQ"	"exon"	"AKU_TR3_0126"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Latvia"	"1"	"1"
"AKU_00095"	"13"	"c.1078G>C"	"r.(?)"	"p.(Gly360Arg)"	"G360R"	"{SNPIDrs368717991: rs368717991}"	"missense"	"Protomer destabilisation"	"{PMID10819641: Porfirio et al. (2000)}"	"CCC triplet"	"AKU_DB_444a"	"substitution"	"(-)BstNI, ScrFI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_444"	"AKU"	"{PMID37658095: Abdelkhalek et al. (2023)}"	"Homozygot"	"1"	"Egypt"	"2"	"1"
"AKU_00095"	"13"	"c.1078G>C"	"r.(?)"	"p.(Gly360Arg)"	"G360R"	"{SNPIDrs368717991: rs368717991}"	"missense"	"Protomer destabilisation"	"{PMID10819641: Porfirio et al. (2000)}"	"CCC triplet"	"AKU_DB_444b"	"substitution"	"(-)BstNI, ScrFI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_444"	"AKU"	"{PMID37658095: Abdelkhalek et al. (2023)}"	"Homozygot"	"1"	"Egypt"	"2"	"1"
"AKU_00094"	"13"	"c.1079G>C"	"r.(?)"	"p.(Gly360Ala)"	"G360A"	""	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	"CCC triplet"	"AKU_DB_111a"	"substitution"	"(+)FauI; (-)BstNI, ScrFI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_111"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"France"	"1"	"1"
"AKU_00094"	"13"	"c.1079G>C"	"r.(?)"	"p.(Gly360Ala)"	"G360A"	""	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	"CCC triplet"	"AKU_DB_111b"	"substitution"	"(+)FauI; (-)BstNI, ScrFI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_111"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"France"	"1"	"1"
"AKU_00264"	"13"	"c.1079G>T"	"r.(?)"	"p.(Gly360Val)"	"G360V"	"{SNPIDrs1172885188: rs1172885188}"	"missense"	"Protomer destabilisation"	"{PMID37658095: Abdelkhalek et al. (2023)}"	"CCC triplet"	"AKU_DB_442a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_442"	"AKU"	"{PMID37658095: Abdelkhalek et al. (2023)}"	"Homozygot"	"1"	"Egypt"	"2"	"1"
"AKU_00264"	"13"	"c.1079G>T"	"r.(?)"	"p.(Gly360Val)"	"G360V"	"{SNPIDrs1172885188: rs1172885188}"	"missense"	"Protomer destabilisation"	"{PMID37658095: Abdelkhalek et al. (2023)}"	"CCC triplet"	"AKU_DB_442b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_442"	"AKU"	"{PMID37658095: Abdelkhalek et al. (2023)}"	"Homozygot"	"1"	"Egypt"	"2"	"1"
"AKU_00143"	"13"	"c.1081G>A"	"r.(?)"	"p.(Gly361Arg)"	"G361R"	"{SNPIDrs765219004: rs765219004}"	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	"CCC triplet"	"AKU_DB_121b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_121"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00143"	"13"	"c.1081G>A"	"r.(?)"	"p.(Gly361Arg)"	"G361R"	"{SNPIDrs765219004: rs765219004}"	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	"CCC triplet"	"AKU_DB_126b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_126"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom/France"	"1"	"1"
"AKU_00143"	"13"	"c.1081G>A"	"r.(?)"	"p.(Gly361Arg)"	"G361R"	"{SNPIDrs765219004: rs765219004}"	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	"CCC triplet"	"AKU_TR2_0320a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0320"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00143"	"13"	"c.1081G>A"	"r.(?)"	"p.(Gly361Arg)"	"G361R"	"{SNPIDrs765219004: rs765219004}"	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	"CCC triplet"	"AKU_DB_269b"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_269"	"AKU"	"submitted, Dr. Jeannette Usher"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00143"	"13"	"c.1081G>A"	"r.(?)"	"p.(Gly361Arg)"	"G361R"	"{SNPIDrs765219004: rs765219004}"	"missense"	"Protomer destabilisation"	"{PMID23430897: Zatkova et al. (2012)}"	"CCC triplet"	"AKU_DB_324a"	"substitution"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_324"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00246"	"13"	"c.1084G>A"	"r.(?)"	"p.(Gly362Arg)"	"G362R"	"?"	"missense"	"Protomer destabilisation"	"{PMID34686677: Lee et al. (2022)}"	"CCC triplet"	"AKU_DB_424b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_424"	"AKU"	"{PMID34686677: Lee et al. (2022)}"	"Compound heterozygous"	"1"	"Taiwan"	"1"	"1"
"AKU_00246"	"13"	"c.1084G>A"	"r.(?)"	"p.(Gly362Arg)"	"G362R"	"?"	"missense"	"Protomer destabilisation"	"{PMID34686677: Lee et al. (2022)}"	"CCC triplet"	"AKU_DB_450b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_450"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Compound heterozygous"	"1"	"Indonesia"	"1"	"1"
"AKU_00096"	"13"	"c.1085G>A"	"r.(?)"	"p.(Gly362Glu)"	"G362E"	""	"missense"	"Protomer destabilisation"	"{PMID12501223: Phornphutkul et al. (2002)}"	"CCC triplet"	"AKU_VIL_66a"	"substitution"	"(-)MnlI ?"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_66"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"Germany"	"1"	"1"
"AKU_00096"	"13"	"c.1085G>A"	"r.(?)"	"p.(Gly362Glu)"	"G362E"	""	"missense"	"Protomer destabilisation"	"{PMID12501223: Phornphutkul et al. (2002)}"	"CCC triplet"	"AKU_DB_138a"	"substitution"	"(-)MnlI ?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_138"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00257"	"13"	"c.1095_1100dup"	"r.(?)"	"p.(Ser366_Thr367dup)"	"S366_T367dup"	""	"insertion inframe"	""	"{PMID23092576: Hu et al. (2012)}"	""	"AKU_DB_425b"	"duplication"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_425"	"AKU"	"{PMID23092576: Hu et al. (2012)}"	"Compound heterozygous"	"1"	"China"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_109b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_109"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"France/Armenia"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_18a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_18"	"AKU"	"{PMID10205262: de Bernabe et al. (1999a)}"	"Compound heterozygous"	"1"	"Spain"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_23a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_23"	"AKU"	"{PMID10205262: de Bernabe et al. (1999a)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_24a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_24"	"AKU"	"{PMID10205262: de Bernabe et al. (1999a)}"	"Homozygot"	"1"	"Spain"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_24b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_24"	"AKU"	"{PMID10205262: de Bernabe et al. (1999a)}"	"Homozygot"	"1"	"Spain"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_25b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_25"	"AKU"	"{PMID10205262: de Bernabe et al. (1999a)}"	"Compound heterozygous"	"1"	"The Netherlands"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_33c"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_33"	"AKU"	"{PMID11001939: Rodriguez et al. (2000)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_36a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_36"	"AKU"	"{PMID10205262: de Bernabe et al. (1999a)}"	"Homozygot"	"1"	"Finland"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_36b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_36"	"AKU"	"{PMID10205262: de Bernabe et al. (1999a)}"	"Homozygot"	"1"	"Finland"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_38a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_38"	"AKU"	"{PMID10205262: de Bernabe et al. (1999a)}"	"Homozygot"	"1"	"Finland"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_38b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_38"	"AKU"	"{PMID10205262: de Bernabe et al. (1999a)}"	"Homozygot"	"1"	"Finland"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_47a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_47"	"AKU"	"{PMID11001939: Rodriguez et al. (2000)}"	"Homozygot"	"1"	"Portugal"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_47b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_47"	"AKU"	"{PMID11001939: Rodriguez et al. (2000)}"	"Homozygot"	"1"	"Portugal"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_5b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_5"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Compound heterozygous"	"1"	"France"	"3"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_7a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_7"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Homozygot"	"1"	"Germany"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_7b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_7"	"AKU"	"{PMID9529363: de Bernabe et al. (1998)}"	"Homozygot"	"1"	"Germany"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_82a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_82"	"AKU"	"{AKU database}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_85a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_85"	"AKU"	"{AKU database}"	"Homozygot"	"1"	"Portugal"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_85b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_85"	"AKU"	"{AKU database}"	"Homozygot"	"1"	"Portugal"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_94b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_94"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_95b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_95"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_96b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_96"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_FEL_2a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_FEL_2"	"AKU"	"{PMID10340975: Felbor et al. (1999)}"	"Homozygot"	"1"	"Germany"	"2"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_FEL_2b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_FEL_2"	"AKU"	"{PMID10340975: Felbor et al. (1999)}"	"Homozygot"	"1"	"Germany"	"2"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_MUL_2a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_MUL_2"	"AKU"	"{PMID10482952: Muller et al. (1999)}"	"Homozygot"	"1"	"Germany"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_MUL_2b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_MUL_2"	"AKU"	"{PMID10482952: Muller et al. (1999)}"	"Homozygot"	"1"	"Germany"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_MUL_3a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_MUL_3"	"AKU"	"{PMID10482952: Muller et al. (1999)}"	"Compound heterozygous"	"1"	"Germany"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_1b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_1"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_12b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_12"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_18b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_18"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_19b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_19"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_20b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_20"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_21b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_21"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_26b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_26"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_28b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_28"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_29b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_29"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_33b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_33"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_35b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_35"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_39a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_39"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_39b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_39"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_5b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_5"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_54b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_54"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_55b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_55"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_58a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_58"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_58b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_58"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Homozygot"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_60a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_60"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_63b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_63"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_64b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_64"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_66b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_66"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"Germany"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_67b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_67"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_69a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_69"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_85b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_85"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_88b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_88"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_VIL_91a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_91"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_WAL_1a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_WAL_1"	"AKU"	"{PMID10465119: Walter et al. (1999)}"	"Homozygot"	"1"	"Germany"	"5"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_WAL_1b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_WAL_1"	"AKU"	"{PMID10465119: Walter et al. (1999)}"	"Homozygot"	"1"	"Germany"	"5"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_AQR_19a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_AQR_19"	"AKU"	"Aquaron et al. (2009)"	"Compound heterozygous"	"1"	"Switzerland/Belgium"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_133b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_133"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"2"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_138b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_138"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_174b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_174"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_176a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_176"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_178a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_178"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_188b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_188"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Germany"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_193a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_193"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Canada"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_199a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_199"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_199a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_199"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_205b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_205"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_222a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_222"	"AKU"	"{PMID25681086: Usher et al. (2015)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_TR3_0125a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR3_0125"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_263a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_263"	"AKU"	"submitted, Dr. Jeannette Usher"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_273a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_273"	"AKU"	"submitted, Dr. Jeannette Usher"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_267a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_267"	"AKU"	"submitted, Dr. Jeannette Usher"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_TR2_0313a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0313"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Belgium"	"2"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_TR2_0313b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0313"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Belgium"	"2"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_TR2_0317a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0317"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France/Vietnam"	"2"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_TR2_0304a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0304"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Belgium"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_TR2_0304b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0304"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Belgium"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_TR2_0303b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0303"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Belgium"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_TR2_0328b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0328"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"France/Belgium"	"2"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_TR2_0117a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0117"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Netherland"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_TR2_0117b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0117"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Netherland"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_TR2_0140a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0140"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Poland"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_TR2_0141a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0141"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Moldavia"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_TR2_0141b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0141"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Moldavia"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_TR2_0236b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0236"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_283a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_283"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Compound heterozygous"	"1"	"France"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_299a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_298"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_315b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_315"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_329b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_329"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"2"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_350a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_350"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_350b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_350"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_DB_408b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_408"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_TR3_0128a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR3_0128"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Portugal"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_TR3_0128b"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR3_0128"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Portugal"	"1"	"1"
"AKU_00097"	"13"	"c.1102A>G"	"r.(?)"	"p.(Met368Val)"	"M368V"	"{SNPIDrs120074173: rs120074173}"	"missense"	"Hexamer disruption"	"{PMID9529363: de Bernabe et al. (1998)}"	""	"AKU_TR3_0130a"	"substitution"	"(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR3_0130"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Belgium"	"1"	"1"
"AKU_00098"	"13"	"c.1111dupC"	"r.(?)"	"p.(His371Profs*4)"	"H371fs (P370fs)"	"{SNPIDrs120074172: rs120074172}"	"frameshift"	""	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet"	"AKU_DB_103b"	"insertion"	"(+)BsiYI;BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_103"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00098"	"13"	"c.1111dupC"	"r.(?)"	"p.(His371Profs*4)"	"H371fs (P370fs)"	"{SNPIDrs120074172: rs120074172}"	"frameshift"	""	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet"	"AKU_DB_52b"	"insertion"	"(+)BsiYI;BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_52"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00098"	"13"	"c.1111dupC"	"r.(?)"	"p.(His371Profs*4)"	"H371fs (P370fs)"	"{SNPIDrs120074172: rs120074172}"	"frameshift"	""	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet"	"AKU_DB_53b"	"insertion"	"(+)BsiYI;BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_53"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"7"	"1"
"AKU_00098"	"13"	"c.1111dupC"	"r.(?)"	"p.(His371Profs*4)"	"H371fs (P370fs)"	"{SNPIDrs120074172: rs120074172}"	"frameshift"	""	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet"	"AKU_DB_54b"	"insertion"	"(+)BsiYI;BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_54"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00098"	"13"	"c.1111dupC"	"r.(?)"	"p.(His371Profs*4)"	"H371fs (P370fs)"	"{SNPIDrs120074172: rs120074172}"	"frameshift"	""	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet"	"AKU_DB_69a"	"insertion"	"(+)BsiYI;BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_69"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00098"	"13"	"c.1111dupC"	"r.(?)"	"p.(His371Profs*4)"	"H371fs (P370fs)"	"{SNPIDrs120074172: rs120074172}"	"frameshift"	""	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet"	"AKU_DB_69b"	"insertion"	"(+)BsiYI;BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_69"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00098"	"13"	"c.1111dupC"	"r.(?)"	"p.(His371Profs*4)"	"H371fs (P370fs)"	"{SNPIDrs120074172: rs120074172}"	"frameshift"	""	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet"	"AKU_SRS_16a"	"insertion"	"(+)BsiYI;BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_16"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00098"	"13"	"c.1111dupC"	"r.(?)"	"p.(His371Profs*4)"	"H371fs (P370fs)"	"{SNPIDrs120074172: rs120074172}"	"frameshift"	""	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet"	"AKU_SRS_16b"	"insertion"	"(+)BsiYI;BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_16"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Homozygot"	"1"	"Slovakia"	"1"	"1"
"AKU_00098"	"13"	"c.1111dupC"	"r.(?)"	"p.(His371Profs*4)"	"H371fs (P370fs)"	"{SNPIDrs120074172: rs120074172}"	"frameshift"	""	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet"	"AKU_SRS_17b"	"insertion"	"(+)BsiYI;BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_17"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00098"	"13"	"c.1111dupC"	"r.(?)"	"p.(His371Profs*4)"	"H371fs (P370fs)"	"{SNPIDrs120074172: rs120074172}"	"frameshift"	""	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet"	"AKU_SRS_4b"	"insertion"	"(+)BsiYI;BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_4"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00098"	"13"	"c.1111dupC"	"r.(?)"	"p.(His371Profs*4)"	"H371fs (P370fs)"	"{SNPIDrs120074172: rs120074172}"	"frameshift"	""	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet"	"AKU_SRS_9b"	"insertion"	"(+)BsiYI;BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_SRS_9"	"AKU"	"{PMID12051967: Srsen et al. (2002)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00098"	"13"	"c.1111dupC"	"r.(?)"	"p.(His371Profs*4)"	"H371fs (P370fs)"	"{SNPIDrs120074172: rs120074172}"	"frameshift"	""	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet"	"AKU_VIL_60b"	"insertion"	"(+)BsiYI;BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_60"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00098"	"13"	"c.1111dupC"	"r.(?)"	"p.(His371Profs*4)"	"H371fs (P370fs)"	"{SNPIDrs120074172: rs120074172}"	"frameshift"	""	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet"	"AKU_VIL_62b"	"insertion"	"(+)BsiYI;BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_62"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00098"	"13"	"c.1111dupC"	"r.(?)"	"p.(His371Profs*4)"	"H371fs (P370fs)"	"{SNPIDrs120074172: rs120074172}"	"frameshift"	""	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet"	"AKU_ZAT_2b"	"insertion"	"(+)BsiYI;BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_ZAT_2"	"AKU"	"{PMID11017803: Zatkova et al. (2000b)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00098"	"13"	"c.1111dupC"	"r.(?)"	"p.(His371Profs*4)"	"H371fs (P370fs)"	"{SNPIDrs120074172: rs120074172}"	"frameshift"	""	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet"	"AKU_DB_142a"	"insertion"	"(+)BsiYI;BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_142"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00098"	"13"	"c.1111dupC"	"r.(?)"	"p.(His371Profs*4)"	"H371fs (P370fs)"	"{SNPIDrs120074172: rs120074172}"	"frameshift"	""	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet"	"AKU_DB_67c"	"insertion"	"(+)BsiYI;BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_67"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00098"	"13"	"c.1111dupC"	"r.(?)"	"p.(His371Profs*4)"	"H371fs (P370fs)"	"{SNPIDrs120074172: rs120074172}"	"frameshift"	""	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet"	"AKU_DB_149b"	"insertion"	"(+)BsiYI;BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_149"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00098"	"13"	"c.1111dupC"	"r.(?)"	"p.(His371Profs*4)"	"H371fs (P370fs)"	"{SNPIDrs120074172: rs120074172}"	"frameshift"	""	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet"	"AKU_TR2_0208b"	"insertion"	"(+)BsiYI;BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0208"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00098"	"13"	"c.1111dupC"	"r.(?)"	"p.(His371Profs*4)"	"H371fs (P370fs)"	"{SNPIDrs120074172: rs120074172}"	"frameshift"	""	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet"	"AKU_TR2_0263b"	"insertion"	"(+)BsiYI;BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0263"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Slovakia"	"2"	"1"
"AKU_00098"	"13"	"c.1111dupC"	"r.(?)"	"p.(His371Profs*4)"	"H371fs (P370fs)"	"{SNPIDrs120074172: rs120074172}"	"frameshift"	""	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet"	"AKU_DB_354b"	"insertion"	"(+)BsiYI;BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_354"	"AKU"	"Akbaba et al. 2020"	"Compound heterozygous"	"1"	"Turkey"	"1"	"1"
"AKU_00098"	"13"	"c.1111dupC"	"r.(?)"	"p.(His371Profs*4)"	"H371fs (P370fs)"	"{SNPIDrs120074172: rs120074172}"	"frameshift"	""	"{PMID10482952: Muller et al. (1999)}"	"CCC triplet"	"AKU_DB_448a"	"insertion"	"(+)BsiYI;BslI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_448"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Compound heterozygous"	"1"	"Slovakia"	"1"	"1"
"AKU_00099"	"13"	"c.1112A>G"	"r.(?)"	"p.(His371Arg)"	"H371R"	"{SNPIDrs120074172: rs120074172}"	"missense"	"Active site disruption, Hexamer disruption"	"{PMID10594001: de Bernabe et al. (1999b)}"	"CCC triplet"	"AKU_DB_35a"	"substitution"	"(-)NcoI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_35"	"AKU"	"{PMID10594001: de Bernabe et al. (1999b)}"	"Homozygot"	"1"	"Finland"	"1"	"1"
"AKU_00099"	"13"	"c.1112A>G"	"r.(?)"	"p.(His371Arg)"	"H371R"	"{SNPIDrs120074172: rs120074172}"	"missense"	"Active site disruption, Hexamer disruption"	"{PMID10594001: de Bernabe et al. (1999b)}"	"CCC triplet"	"AKU_DB_35b"	"substitution"	"(-)NcoI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_35"	"AKU"	"{PMID10594001: de Bernabe et al. (1999b)}"	"Homozygot"	"1"	"Finland"	"1"	"1"
"AKU_00099"	"13"	"c.1112A>G"	"r.(?)"	"p.(His371Arg)"	"H371R"	"{SNPIDrs120074172: rs120074172}"	"missense"	"Active site disruption, Hexamer disruption"	"{PMID10594001: de Bernabe et al. (1999b)}"	"CCC triplet"	"AKU_DB_318b"	"substitution"	"(-)NcoI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_318"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00234"	"13"	"c.1114G>A"	"r.(?)"	"p.(Gly372Arg)"	"G372R"	"{SNPIDrs1940645842: rs1940645842}"	"missense"	"Active site disruption"	"{PMID34504318: Soltysova et al. (2021)}, {PMID33621656: Bychkov et al. (2021)}"	""	"AKU_DB_335b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_335"	"AKU"	"{PMID33621656: Bychkov et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00178"	"13"	"c.1115_1117del"	"r.(?)"	"p.(Gly372_Pro373delinsAla)"	"G372_P373delinsAla"	""	"deletion/insertion inframe"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TR2_0127b"	"deletion/insertion inframe"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0127"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Poland"	"1"	"1"
"AKU_00178"	"13"	"c.1115_1117delGAC"	"r.(?)"	"p.(Gly372_Pro373delinsAla)"	"G372_P373delinsAla"	""	"deletion/insertion inframe"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TU_37b"	"deletion/insertion inframe"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_TU_37"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Compound heterozygous"	"1"	"Turkey"	"1"	"1"
"AKU_00100"	"13"	"c.1118C>T"	"r.(?)"	"p.(Pro373Leu)"	"P373L"	"{SNPIDrs138558042: rs138558042}"	"missense"	"Active site disruption"	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_59b"	"substitution"	"(-)Sau96I, AvaII"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_59"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00148"	"13"	"c.1120G>C"	"r.(?)"	"p.(Asp374His)"	"D374H"	"{SNPIDrs981454067: rs981454067}"	"missense"	"Active site disruption"	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_125b"	"substitution"	"(-)SfaNI"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_125"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00247"	"13"	"c.1157_1160delTGGC"	"r.(?)"	"p.(Leu386Hisfs*18)"	"L386fs"	"{SNPIDrs772802378: rs772802378}"	"frameshift"	""	"{PMID34686677: Lee et al. (2022)}"	""	"AKU_DB_421a"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_421"	"AKU"	"{PMID34686677: Lee et al. (2022)}"	"Compound heterozygous"	"1"	"Taiwan"	"1"	"1"
"AKU_00241"	"13i"	"c.1188+1G>A"	"r.(?)"	"?"	"ivs13+1G>A"	""	"aberrant splicing (DS)/exon skipping/frameshift?"	""	"{PMID33746036: Kisa et al. (2021)}"	""	"AKU_TU_15a"	"substitution"	"?"	""	"DNA"	"SEQ"	"intron"	"AKU_TU_15"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00241"	"13i"	"c.1188+1G>A"	"r.(?)"	"?"	"ivs13+1G>A"	""	"aberrant splicing (DS)/exon skipping/frameshift?"	""	"{PMID33746036: Kisa et al. (2021)}"	""	"AKU_TU_15b"	"substitution"	"?"	""	"DNA"	"SEQ"	"intron"	"AKU_TU_15"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00101"	"13i"	"c.1188+1G>T"	"r.(spl?)"	"p.(Arg336Serfs*5)"	"ivs13+1G>T"	"{SNPIDrs760206323: rs760206323}"	"aberrant splicing (DS)/exon skipping/frameshift?"	""	"{PMID11001939: Rodriguez et al. (2000)}"	""	"AKU_DB_22b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_22"	"AKU"	"{PMID10205262: de Bernabe et al. (1999a)}"	"Compound heterozygous"	"1"	"Poland"	"1"	"1"
"AKU_00101"	"13i"	"c.1188+1G>T"	"r.(spl?)"	"p.(Arg336Serfs*5)"	"ivs13+1G>T"	"{SNPIDrs760206323: rs760206323}"	"aberrant splicing (DS)/exon skipping/frameshift?"	""	"{PMID11001939: Rodriguez et al. (2000)}"	""	"AKU_DB_317b"	"substitution"	""	""	"DNA"	"SEQ"	"intron"	"AKU_DB_317"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00228"	"13i"	"c.1188+8T>A"	"r.(?)"	"p.(?)"	"ivs13+8T>A"	""	"aberrant splicing (AS)/exon skipping"	""	"{PMID34504318: Soltysova et al. (2021)}"	""	"AKU_DB_314b"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_314"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"1"	"1"
"AKU_00125"	"13i"	"c.1188+51A>G "	"r.(?)"	"p.(?)"	"ivs13+51A>G"	"{SNPIDrs112229599: rs112229599}"	"polymorphism, found in one algerian normal chromosome"	""	"{AKU database}"	""	"AKU_POL_19"	"substitution"	""	"0,006(G)"	"DNA"	"SEQ"	"intron"	"AKU_POL_19"	""	"{AKU database}"	""	"1"	""	"1"	"1"
"AKU_00136"	"13i"	"c.1188+89C>T"	"r.(?)"	"p.(?)"	"ivs13+89C>T"	""	"polymorphism"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_POL_30"	"substitution"	""	"0,025(T)"	"DNA"	"SEQ"	"intron"	"AKU_POL_30"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"1"	""	"1"	"1"
"AKU_00137"	"13i"	"c.1188+142G>T"	"r.(?)"	"p.(?)"	"ivs13+142G>T"	"{SNPIDrs61799339: rs61799339}"	"polymorphism"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_POL_31"	"substitution"	""	"0,063(T)"	"DNA"	"SEQ"	"intron"	"AKU_POL_31"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"1"	""	"1"	"1"
"AKU_00138"	"13i"	"c.1188+203G>A"	"r.(?)"	"p.(?)"	"ivs13+203G>A"	"{SNPIDrs804974: rs804974}"	"polymorphism"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_POL_32"	"substitution"	""	"0,203(T)"	"DNA"	"SEQ"	"intron"	"AKU_POL_32"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"1"	""	"1"	"1"
"AKU_00204"	"13i14"	"c.1189-41_1248del"	"r.(?)"	"p.(?)"	"in13ex14 del"	""	"deletion"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_239a"	"deletion"	""	""	"DNA"	"SEQ"	"intron/exon"	"AKU_DB_239"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Iran"	"1"	"1"
"AKU_00204"	"13i14"	"c.1189-41_1248del"	"r.(?)"	"p.(?)"	"in13ex14 del"	""	"deletion"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_239b"	"deletion"	""	""	"DNA"	"SEQ"	"intron/exon"	"AKU_DB_239"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Iran"	"1"	"1"
"AKU_00204"	"13i14"	"c.1189-41_1248del"	"r.(?)"	"p.(?)"	"in13ex14 del"	""	"deletion"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_347a"	"deletion"	""	""	"DNA"	"SEQ"	"intron/exon"	"AKU_DB_347"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00204"	"13i14"	"c.1189-41_1248del"	"r.(?)"	"p.(?)"	"in13ex14 del"	""	"deletion"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_347b"	"deletion"	""	""	"DNA"	"SEQ"	"intron/exon"	"AKU_DB_347"	"AKU"	"Kilavuz et al. 2018"	"Homozygot"	"1"	"Turkey"	"1"	"1"
"AKU_00204"	"13i14"	"c.1189-41_1248del"	"r.(?)"	"p.(?)"	"in13ex14 del"	""	"deletion"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TU_03a"	"deletion"	""	""	"DNA"	"SEQ"	"intron/exon"	"AKU_TU_03"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"2"	"1"
"AKU_00204"	"13i14"	"c.1189-41_1248del"	"r.(?)"	"p.(?)"	"in13ex14 del"	""	"deletion"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_TU_03b"	"deletion"	""	""	"DNA"	"SEQ"	"intron/exon"	"AKU_TU_03"	"AKU"	"{PMID33746036: Kisa et al. (2021)}"	"Homozygot"	"1"	"Turkey"	"2"	"1"
"AKU_00223"	"14"	"c.1191A>C"	"r.(?)"	"p.(Ala397Ala)"	"A397A"	"{SNPIDrs137923025: rs137923025}"	"silent/polymorphism - no effect on splicing"	""	"{PMID30737480: Ascher et al. (2019)}"	""	"AKU_DB_287e"	"substitution"	"?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_287"	"AKU"	"{PMID34504318: Soltysova et al. (2021)}"	"Compound heterozygous"	"1"	"Russia"	"3"	"1"
"AKU_00102"	"14"	"c.1201G>C"	"r.(?)"	"p.(Glu401Gln)"	"E401Q"	"{SNPIDrs767159114: rs767159114}"	"missense"	"Active site disruption, Hexamer disruption"	"{PMID14978662:  Mannoni et al. (2004)}"	""	"AKU_MAN_2a"	"substitution"	"(-)TfiI ?"	""	"DNA"	"SEQ"	"exon"	"AKU_MAN_2"	"AKU"	"{PMID14978662:  Mannoni et al. (2004)}"	"Homozygot"	"1"	"Italy"	"2"	"1"
"AKU_00102"	"14"	"c.1201G>C"	"r.(?)"	"p.(Glu401Gln)"	"E401Q"	"{SNPIDrs767159114: rs767159114}"	"missense"	"Active site disruption, Hexamer disruption"	"{PMID14978662:  Mannoni et al. (2004)}"	""	"AKU_MAN_2b"	"substitution"	"(-)TfiI ?"	""	"DNA"	"SEQ"	"exon"	"AKU_MAN_2"	"AKU"	"{PMID14978662:  Mannoni et al. (2004)}"	"Homozygot"	"1"	"Italy"	"2"	"1"
"AKU_00102"	"14"	"c.1201G>C"	"r.(?)"	"p.(Glu401Gln)"	"E401Q"	"{SNPIDrs767159114: rs767159114}"	"missense"	"Active site disruption, Hexamer disruption"	"{PMID14978662:  Mannoni et al. (2004)}"	""	"AKU_VIL_14b"	"substitution"	"(-)TfiI ?"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_14"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00102"	"14"	"c.1201G>C"	"r.(?)"	"p.(Glu401Gln)"	"E401Q"	"{SNPIDrs767159114: rs767159114}"	"missense"	"Active site disruption, Hexamer disruption"	"{PMID14978662:  Mannoni et al. (2004)}"	""	"AKU_DB_165b"	"substitution"	"(-)TfiI ?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_165"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00102"	"14"	"c.1201G>C"	"r.(?)"	"p.(Glu401Gln)"	"E401Q"	"{SNPIDrs767159114: rs767159114}"	"missense"	"Active site disruption, Hexamer disruption"	"{PMID14978662:  Mannoni et al. (2004)}"	""	"AKU_DB_173a"	"substitution"	"(-)TfiI ?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_173"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00102"	"14"	"c.1201G>C"	"r.(?)"	"p.(Glu401Gln)"	"E401Q"	"{SNPIDrs767159114: rs767159114}"	"missense"	"Active site disruption, Hexamer disruption"	"{PMID14978662:  Mannoni et al. (2004)}"	""	"AKU_DB_173b"	"substitution"	"(-)TfiI ?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_173"	"AKU"	"{PMID25804398:Nemethova et al. (2016)}"	"Homozygot"	"1"	"Italy"	"1"	"1"
"AKU_00102"	"14"	"c.1201G>C"	"r.(?)"	"p.(Glu401Gln)"	"E401Q"	"{SNPIDrs767159114: rs767159114}"	"missense"	"Active site disruption, Hexamer disruption"	"{PMID14978662:  Mannoni et al. (2004)}"	""	"AKU_DB_245a"	"substitution"	"(-)TfiI ?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_245"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Compound heterozygous"	"1"	"Italy"	"1"	"1"
"AKU_00102"	"14"	"c.1201G>C"	"r.(?)"	"p.(Glu401Gln)"	"E401Q"	"{SNPIDrs767159114: rs767159114}"	"missense"	"Active site disruption, Hexamer disruption"	"{PMID14978662:  Mannoni et al. (2004)}"	""	"AKU_DB_251a"	"substitution"	"(-)TfiI ?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_251"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Compound heterozygous"	"1"	"Italy"	"2"	"1"
"AKU_00102"	"14"	"c.1201G>C"	"r.(?)"	"p.(Glu401Gln)"	"E401Q"	"{SNPIDrs767159114: rs767159114}"	"missense"	"Active site disruption, Hexamer disruption"	"{PMID14978662:  Mannoni et al. (2004)}"	""	"AKU_TR2_0305a"	"substitution"	"(-)TfiI ?"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0305"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"France"	"2"	"1"
"AKU_00102"	"14"	"c.1201G>C"	"r.(?)"	"p.(Glu401Gln)"	"E401Q"	"{SNPIDrs767159114: rs767159114}"	"missense"	"Active site disruption, Hexamer disruption"	"{PMID14978662:  Mannoni et al. (2004)}"	""	"AKU_TR2_0305a"	"substitution"	"(-)TfiI ?"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0305"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"France"	"2"	"1"
"AKU_00102"	"14"	"c.1201G>C"	"r.(?)"	"p.(Glu401Gln)"	"E401Q"	"{SNPIDrs767159114: rs767159114}"	"missense"	"Active site disruption, Hexamer disruption"	"{PMID14978662:  Mannoni et al. (2004)}"	""	"AKU_TR2_0112a"	"substitution"	"(-)TfiI ?"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0112"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Italy"	"2"	"1"
"AKU_00102"	"14"	"c.1201G>C"	"r.(?)"	"p.(Glu401Gln)"	"E401Q"	"{SNPIDrs767159114: rs767159114}"	"missense"	"Active site disruption, Hexamer disruption"	"{PMID14978662:  Mannoni et al. (2004)}"	""	"AKU_TR2_0112b"	"substitution"	"(-)TfiI ?"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0112"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Italy"	"2"	"1"
"AKU_00102"	"14"	"c.1201G>C"	"r.(?)"	"p.(Glu401Gln)"	"E401Q"	"{SNPIDrs767159114: rs767159114}"	"missense"	"Active site disruption, Hexamer disruption"	"{PMID14978662:  Mannoni et al. (2004)}"	""	"AKU_TR2_0112c"	"substitution"	"(-)TfiI ?"	""	"DNA"	"SEQ"	"exon"	"AKU_TR2_0112"	"AKU"	"{PMID30737480: Ascher et al. (2019)}"	"Homozygot"	"1"	"Italy"	"2"	"1"
"AKU_00102"	"14"	"c.1201G>C"	"r.(?)"	"p.(Glu401Gln)"	"E401Q"	"{SNPIDrs767159114: rs767159114}"	"missense"	"Active site disruption, Hexamer disruption"	"{PMID14978662:  Mannoni et al. (2004)}"	""	"AKU_DB_450a"	"substitution"	"(-)TfiI ?"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_450"	"AKU"	"submitted, Dr. Andrea Zatkova"	"Compound heterozygous"	"1"	"Indonesia"	"1"	"1"
"AKU_00103"	"14"	"c.1221G>A"	"r.(spl?)"	"p.(Ala407Ala)"	"A407A"	"{SNPIDrs146206905: rs146206905}"	"silent/aberrant splicing (creating novel DS)"	""	"{PMID16085442: Ladjouze-Rezig et al. (2006)}"	""	"AKU_DB_42a"	"substitution"	"(-)AciI "	""	"DNA"	"SEQ"	"exon"	"AKU_DB_42"	"AKU"	"{PMID16085442: Ladjouze-Rezig et al. (2006)}"	"Compound heterozygous"	"1"	"Algeria"	"1"	"1"
"AKU_00147"	"14"	"c.1290_1300del"	"r.(?)"	"p.(Lys431Hisfs*11)"	"K431fs (old description c.1282_1292delGAGCCACTCAA)"	"{SNPIDrs1553715351: rs1553715351}"	"frameshift"	""	"{PMID23430897: Zatkova et al. (2012)}"	""	"AKU_DB_124b"	"deletion"	""	""	"DNA"	"SEQ"	"exon"	"AKU_DB_124"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Compound heterozygous"	"1"	"United Kingdom"	"1"	"1"
"AKU_00104"	"14"	"c.1336T>C"	"r.(?)"	"p.(*446Argext*24)"	"*446ext"	"{SNPIDrs143370662: rs143370662}"	"extention"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_13b"	"substitution"	"(+)Taq1"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_13"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00104"	"14"	"c.1336T>C"	"r.(?)"	"p.(*446Argext*24)"	"*446ext"	"{SNPIDrs143370662: rs143370662}"	"extention"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_VIL_44b"	"substitution"	"(+)Taq1"	""	"DNA"	"SEQ"	"exon"	"AKU_VIL_44"	"AKU"	"{PMID19862842: Vilboux et al. (2009)}"	"Compound heterozygous"	"1"	"USA"	"1"	"1"
"AKU_00104"	"14"	"c.1336T>C"	"r.(?)"	"p.(*446Argext*24)"	"*446ext"	"{SNPIDrs143370662: rs143370662}"	"extention"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_DB_130a"	"substitution"	"(+)Taq1"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_130"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"United Kingdom"	"2"	"1"
"AKU_00104"	"14"	"c.1336T>C"	"r.(?)"	"p.(*446Argext*24)"	"*446ext"	"{SNPIDrs143370662: rs143370662}"	"extention"	""	"{PMID19862842: Vilboux et al. (2009)}"	""	"AKU_DB_130b"	"substitution"	"(+)Taq1"	""	"DNA"	"SEQ"	"exon"	"AKU_DB_130"	"AKU"	"{PMID23430897: Zatkova et al. (2012)}"	"Homozygot"	"1"	"United Kingdom"	"2"	"1"