LOVD - Search variants

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24 public entries in HGD

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+/? AKU_00000 00 c.(?)
    + c.(?)
r.(?) p.(?) unknown - unknown - Nemethova et al. (2016) - AKU_DB_198a unknown - - DNA SEQ unknown AKU_DB_198 AKU Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava ? 1 Germany 1 1
+/? AKU_00000 00 c.(?)
    + c.(?)
r.(?) p.(?) unknown - unknown - Nemethova et al. (2016) - AKU_DB_198b unknown - - DNA SEQ unknown AKU_DB_198 AKU Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava ? 1 Germany 1 1
+/? AKU_00200 01-04 c.(?_1)_(282+1_283-1)del
    + c.808G>A
r.(?) p.(?) ex1,2,3,4 del - deletion - Ascher et al. (2019) - AKU_TR3_0122b deletion - - DNA SEQ, MLPA multiple exons AKU_TR3_0122 AKU Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Germany/Peru 1 1
+/+? AKU_00006 02 c.74T>C
    + c.74T>C
r.(?) p.(Leu25Pro) L25P - missense Protomer destabilisation, Hexamer disruption Felbor et al. (1999) CCC triplet AKU_FEL_1a substitution (+)FauI, AciI - DNA SEQ exon AKU_FEL_1 AKU Felbor et al. (1999), Slovakia (Slovak Republic):Bratislava Homozygot 1 Germany 1 1
+/+? AKU_00006 02 c.74T>C
    + c.74T>C
r.(?) p.(Leu25Pro) L25P - missense Protomer destabilisation, Hexamer disruption Felbor et al. (1999) CCC triplet AKU_FEL_1b substitution (+)FauI, AciI - DNA SEQ exon AKU_FEL_1 AKU Felbor et al. (1999), Slovakia (Slovak Republic):Bratislava Homozygot 1 Germany 1 1
+/+? AKU_00006 02 c.74T>C
    + c.74T>C
r.(?) p.(Leu25Pro) L25P - missense Protomer destabilisation, Hexamer disruption Felbor et al. (1999) CCC triplet AKU_GEH_1a substitution (+)FauI, AciI - DNA SEQ exon AKU_GEH_1 AKU Muller et al. (1999), Slovakia (Slovak Republic):Bratislava Homozygot 1 Germany 1 1
+/+? AKU_00006 02 c.74T>C
    + c.74T>C
r.(?) p.(Leu25Pro) L25P - missense Protomer destabilisation, Hexamer disruption Felbor et al. (1999) CCC triplet AKU_GEH_1b substitution (+)FauI, AciI - DNA SEQ exon AKU_GEH_1 AKU Muller et al. (1999), Slovakia (Slovak Republic):Bratislava Homozygot 1 Germany 1 1
+/+ AKU_00050 08 c.481G>A
    + c.1102A>G
r.(?) p.(Gly161Arg) G161R rs28941783 missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_MUL_3b substitution (-)BslI - DNA SEQ exon AKU_MUL_3 AKU Muller et al. (1999), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Germany 1 1
+/+ AKU_00050 08 c.481G>A
    + c.1102A>G
r.(?) p.(Gly161Arg) G161R rs28941783 missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_188a substitution (-)BslI - DNA SEQ exon AKU_DB_188 AKU Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Germany 1 1
+/+? AKU_00079 11 c.808G>A
    + c.(?_1)_(282+1_283-1)del
r.(?) p.(Gly270Arg) G270R rs120074174 missense Protomer destabilisation, Hexamer disruption Muller et al. (1999) CCC triplet, CpG AKU_TR3_0122a substitution (+)EcoNI - DNA SEQ exon AKU_TR3_0122 AKU Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Germany/Peru 1 1
+/+ AKU_00083 12 c.899T>G
    + c.899T>G
r.(?) p.(Val300Gly) V300G rs120074170 missense Protomer destabilisation Fernandez Canon et al. (1996) - AKU_DB_6a substitution - - DNA SEQ exon AKU_DB_6 AKU Fernandez Canon et al. (1996), Slovakia (Slovak Republic):Bratislava Homozygot 1 Germany 1 1
+/+ AKU_00083 12 c.899T>G
    + c.899T>G
r.(?) p.(Val300Gly) V300G rs120074170 missense Protomer destabilisation Fernandez Canon et al. (1996) - AKU_DB_6b substitution - - DNA SEQ exon AKU_DB_6 AKU Fernandez Canon et al. (1996), Slovakia (Slovak Republic):Bratislava Homozygot 1 Germany 1 1
+/+? AKU_00096 13 c.1085G>A
    + c.1102A>G
r.(?) p.(Gly362Glu) G362E - missense Protomer destabilisation Phornphutkul et al. (2002) CCC triplet AKU_VIL_66a substitution (-)MnlI ? - DNA SEQ exon AKU_VIL_66 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Germany 1 1
+/+ AKU_00097 13 c.1102A>G
    + c.1102A>G
r.(?) p.(Met368Val) M368V rs120074173 missense Hexamer disruption de Bernabe et al. (1998) - AKU_DB_7a substitution (+)BtsIMutI, HpyCH4III, Tsp45I, TspRI - DNA SEQ exon AKU_DB_7 AKU de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava Homozygot 1 Germany 1 1
+/+ AKU_00097 13 c.1102A>G
    + c.1102A>G
r.(?) p.(Met368Val) M368V rs120074173 missense Hexamer disruption de Bernabe et al. (1998) - AKU_DB_7b substitution (+)BtsIMutI, HpyCH4III, Tsp45I, TspRI - DNA SEQ exon AKU_DB_7 AKU de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava Homozygot 1 Germany 1 1
+/+ AKU_00097 13 c.1102A>G
    + c.1102A>G
r.(?) p.(Met368Val) M368V rs120074173 missense Hexamer disruption de Bernabe et al. (1998) - AKU_FEL_2a substitution (+)BtsIMutI, HpyCH4III, Tsp45I, TspRI - DNA SEQ exon AKU_FEL_2 AKU Felbor et al. (1999), Slovakia (Slovak Republic):Bratislava Homozygot 1 Germany 2 1
+/+ AKU_00097 13 c.1102A>G
    + c.1102A>G
r.(?) p.(Met368Val) M368V rs120074173 missense Hexamer disruption de Bernabe et al. (1998) - AKU_FEL_2b substitution (+)BtsIMutI, HpyCH4III, Tsp45I, TspRI - DNA SEQ exon AKU_FEL_2 AKU Felbor et al. (1999), Slovakia (Slovak Republic):Bratislava Homozygot 1 Germany 2 1
+/+ AKU_00097 13 c.1102A>G
    + c.1102A>G
r.(?) p.(Met368Val) M368V rs120074173 missense Hexamer disruption de Bernabe et al. (1998) - AKU_MUL_2a substitution (+)BtsIMutI, HpyCH4III, Tsp45I, TspRI - DNA SEQ exon AKU_MUL_2 AKU Muller et al. (1999), Slovakia (Slovak Republic):Bratislava Homozygot 1 Germany 1 1
+/+ AKU_00097 13 c.1102A>G
    + c.1102A>G
r.(?) p.(Met368Val) M368V rs120074173 missense Hexamer disruption de Bernabe et al. (1998) - AKU_MUL_2b substitution (+)BtsIMutI, HpyCH4III, Tsp45I, TspRI - DNA SEQ exon AKU_MUL_2 AKU Muller et al. (1999), Slovakia (Slovak Republic):Bratislava Homozygot 1 Germany 1 1
+/+ AKU_00097 13 c.1102A>G
    + c.481G>A
r.(?) p.(Met368Val) M368V rs120074173 missense Hexamer disruption de Bernabe et al. (1998) - AKU_MUL_3a substitution (+)BtsIMutI, HpyCH4III, Tsp45I, TspRI - DNA SEQ exon AKU_MUL_3 AKU Muller et al. (1999), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Germany 1 1
+/+ AKU_00097 13 c.1102A>G
    + c.1085G>A
r.(?) p.(Met368Val) M368V rs120074173 missense Hexamer disruption de Bernabe et al. (1998) - AKU_VIL_66b substitution (+)BtsIMutI, HpyCH4III, Tsp45I, TspRI - DNA SEQ exon AKU_VIL_66 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Germany 1 1
+/+ AKU_00097 13 c.1102A>G
    + c.1102A>G
r.(?) p.(Met368Val) M368V rs120074173 missense Hexamer disruption de Bernabe et al. (1998) - AKU_WAL_1a substitution (+)BtsIMutI, HpyCH4III, Tsp45I, TspRI - DNA SEQ exon AKU_WAL_1 AKU Walter et al. (1999), Slovakia (Slovak Republic):Bratislava Homozygot 1 Germany 5 1
+/+ AKU_00097 13 c.1102A>G
    + c.1102A>G
r.(?) p.(Met368Val) M368V rs120074173 missense Hexamer disruption de Bernabe et al. (1998) - AKU_WAL_1b substitution (+)BtsIMutI, HpyCH4III, Tsp45I, TspRI - DNA SEQ exon AKU_WAL_1 AKU Walter et al. (1999), Slovakia (Slovak Republic):Bratislava Homozygot 1 Germany 5 1
+/+ AKU_00097 13 c.1102A>G
    + c.481G>A
r.(?) p.(Met368Val) M368V rs120074173 missense Hexamer disruption de Bernabe et al. (1998) - AKU_DB_188b substitution (+)BtsIMutI, HpyCH4III, Tsp45I, TspRI - DNA SEQ exon AKU_DB_188 AKU Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Germany 1 1