View all contents - HGD mutation database - Leiden Open Variation Database

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The variants below are all in the HGD database. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than HGD, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the HGD full legend here.

1451 public entries
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Path.

DB-ID

Exon

DNA change

RNA change

Protein

Original description

Links

Variant remarks

Predicted Mutation Effect**

Reference

Mutation HOT-SPOT

Allele code

Type

Re-site

Frequency

Template

Technique

Location

Patient ID

Disease

Reference

Remarks

# Reported

Geographic origin

Patient/Affected_per_Family

Families Patients


+/+	AKU_00097	13	c.1102A>G + c.1102A>G	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_36b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_36	AKU	de Bernabe et al. (1999a), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Finland	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_38a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_38	AKU	de Bernabe et al. (1999a), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Finland	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_38b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_38	AKU	de Bernabe et al. (1999a), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Finland	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_47a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_47	AKU	Rodriguez et al. (2000), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Portugal	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_47b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_47	AKU	Rodriguez et al. (2000), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Portugal	1	1
+/+	AKU_00097	13	c.1102A>G + c.899T>G	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_5b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_5	AKU	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	3	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.(?)	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_82a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_82	AKU	AKU database, Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	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_85a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_85	AKU	AKU database, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Portugal	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_85b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_85	AKU	AKU database, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Portugal	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_DB_94b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_94	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00097	13	c.1102A>G + c.688C>T	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_95b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_95	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+	AKU_00097	13	c.1102A>G + c.469+2T>C	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_96b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_96	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	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.469+2T>C	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_1b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_1	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	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_VIL_12b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_12	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00097	13	c.1102A>G + c.359G>T	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_18b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_18	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00097	13	c.1102A>G + c.342+1G>T	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_19b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_19	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00097	13	c.1102A>G + c.413_434+35del	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_20b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_20	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00097	13	c.1102A>G + c.1078G>C	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_21b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_21	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00097	13	c.1102A>G + c.178T>G	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_26b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_26	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00097	13	c.1102A>G + c.359G>T	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_28b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_28	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00097	13	c.1102A>G + c.11T>A	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_29b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_29	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00097	13	c.1102A>G + c.899T>G	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_33b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_33	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00097	13	c.1102A>G + c.549+1G>A	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_35b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_35	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	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_VIL_39a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_39	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	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_VIL_39b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_39	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+	AKU_00097	13	c.1102A>G + c.1075C>T	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_5b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_5	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00097	13	c.1102A>G + c.342+1G>T	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_54b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_54	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00097	13	c.1102A>G + c.359G>T	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_55b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_55	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	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_VIL_58a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_58	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	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_VIL_58b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_58	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+	AKU_00097	13	c.1102A>G + c.1111dupC	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_60a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_60	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00097	13	c.1102A>G + c.688C>T	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_63b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_63	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00097	13	c.1102A>G + c.549G>T	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_64b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_64	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	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.899T>G	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_67b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_67	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00097	13	c.1102A>G + c.(?)	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_69a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_69	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00097	13	c.1102A>G + c.413_434+35del	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_85b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_85	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00097	13	c.1102A>G + c.175delA	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_88b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_88	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00097	13	c.1102A>G + c.(?)	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_91a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_VIL_91	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	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.(?)	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_AQR_19a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_AQR_19	AKU	Aquaron et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Switzerland/Belgium	1	1
+/+	AKU_00097	13	c.1102A>G + c.125A>C	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_133b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_133	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	2	1
+/+	AKU_00097	13	c.1102A>G + c.1085G>A	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_138b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_138	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00097	13	c.1102A>G + c.614G>A	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_174b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_174	AKU	Nemethova et al. (2016), Italy:Florence	Compound heterozygous	1	Italy	1	1
+/+	AKU_00097	13	c.1102A>G + c.1007-1709_1188+1121del	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_176a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_176	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	1	1
+/+	AKU_00097	13	c.1102A>G + c.688C>T	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_178a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_178	AKU	Nemethova et al. (2016), France:Marseilles	Compound heterozygous	1	France	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_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
+/+	AKU_00097	13	c.1102A>G + c.1007-2A>T	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_193a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_193	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Canada	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_199a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_199	AKU	Nemethova et al. (2016), Italy:Florence	Homozygot	1	Italy	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_199a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_199	AKU	Nemethova et al. (2016), Italy:Florence	Homozygot	1	Italy	1	1
+/+	AKU_00097	13	c.1102A>G + c.16-1G>A	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_205b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_205	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00097	13	c.1102A>G + c.343G>C	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_222a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_222	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00097	13	c.1102A>G + c.1040G>C	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_TR3_0125a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_TR3_0125	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	1	1
+/+	AKU_00097	13	c.1102A>G + c.125A>C	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_263a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_263	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00097	13	c.1102A>G + c.899T>G	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_273a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_273	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00097	13	c.1102A>G + c.469+2T>C	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_267a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_267	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	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_TR2_0313a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_TR2_0313	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Belgium	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_TR2_0313b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_TR2_0313	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Belgium	2	1
+/+	AKU_00097	13	c.1102A>G + c.457dupG	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_TR2_0317a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_TR2_0317	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France/Vietnam	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_TR2_0304a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_TR2_0304	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Belgium	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_TR2_0304b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_TR2_0304	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Belgium	1	1
+/+	AKU_00097	13	c.1102A>G + c.175delA	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_TR2_0303b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_TR2_0303	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Belgium	1	1
+/+	AKU_00097	13	c.1102A>G + c.688C>T	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_TR2_0328b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_TR2_0328	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France/Belgium	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_TR2_0117a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_TR2_0117	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Netherland	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_TR2_0117b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_TR2_0117	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Netherland	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_TR2_0140a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_TR2_0140	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Poland	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_TR2_0141a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_TR2_0141	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Moldavia	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_TR2_0141b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_TR2_0141	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Moldavia	1	1
+/+	AKU_00097	13	c.1102A>G + c.175delA	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_TR2_0236b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_TR2_0236	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00097	13	c.1102A>G + c.299T>C	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_283a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_283	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	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_DB_299a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_298	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	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_DB_315b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_315	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00097	13	c.1102A>G + c.16-1G>A	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_329b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_329	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	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_DB_350a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_350	AKU	Kilavuz et al. 2018, Turkey:Adana	Homozygot	1	Turkey	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_350b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_350	AKU	Kilavuz et al. 2018, Turkey:Adana	Homozygot	1	Turkey	1	1
+/+	AKU_00097	13	c.1102A>G + c.753C>T	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_408b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_408	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	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_TR3_0128a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_TR3_0128	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Portugal	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_TR3_0128b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_TR3_0128	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Portugal	1	1
+/+	AKU_00097	13	c.1102A>G + c.289T>G	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_TR3_0130a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_TR3_0130	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Belgium	1	1
+/+	AKU_00098	13	c.1111dupC + c.457dupG	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_DB_103b	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_DB_103	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00098	13	c.1111dupC + c.808G>A	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_DB_52b	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_DB_52	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00098	13	c.1111dupC + c.808G>A	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_DB_53b	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_DB_53	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	7	1
+/+	AKU_00098	13	c.1111dupC + c.16-1G>A	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_DB_54b	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_DB_54	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00098	13	c.1111dupC + c.1111dupC	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_DB_69a	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_DB_69	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00098	13	c.1111dupC + c.1111dupC	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_DB_69b	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_DB_69	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00098	13	c.1111dupC + c.1111dupC	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_SRS_16a	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_SRS_16	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00098	13	c.1111dupC + c.1111dupC	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_SRS_16b	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_SRS_16	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00098	13	c.1111dupC + c.481G>A	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_SRS_17b	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_SRS_17	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00098	13	c.1111dupC + c.808G>A	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_SRS_4b	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_SRS_4	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00098	13	c.1111dupC + c.481G>A	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_SRS_9b	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_SRS_9	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00098	13	c.1111dupC + c.1102A>G	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_VIL_60b	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_VIL_60	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00098	13	c.1111dupC + c.674G>T	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_VIL_62b	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_VIL_62	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1

1301 - 1400
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Coding DNA Reference Sequence: NM_000187.3, the first base of the Met-codon is counted as position 1.

Some specific features:
Exon: (00) stands for any exon; (i) indicates intron.
DNA: (c.?) or wobble code is used when nucleotide change was not known or not indicated
Variant original description: brief name of the mutation; if original description of the mutation was different, it is indicated after comma
Remarks: description of the variant, AS= acceptor site, DS=donor site
Predicted Mutation Effect**: The effects of the novel missense variants on stability and protein-protein afinity was assessed in the context
of the molecular interactions of the wild-type residue using mCSM Pires et al. (2014a) and DUET Pires et al. (2014b). Details are downloadable here: TABLE

Allele_code: i.e. patient with the Patient_ID (AKU_AQR_11) has alleles AKU_AQR_11a and AKU_AQR_11b
Restriction site: mutation abolishes (-) or creates (+) specific restriction site
Frequency: of specific polymorphic alleles (AKUdatabase or Vilboux at al. (2009))
Patient_ID: in cases with ID starting with AKU_DB_ we report also HGD haplotypes that can be found in this link: HGD haplotypes associated with AKU mutations
DBID: AKU_00000 is used for alleles with unknown mutation

References not present in PubMed:
Aquaron et al. (2009) (not listed in PubMed): Current Rheumatology Reviews, 2009, 5:111-125. https://doi.org/10.2174/157339709788298419
Cho end Kim (2018) (not listed in PubMed): J Genet Med, 2018, 15:17-19. https://doi.org/10.5734/JGM.2018.15.1.17
Kilavuz et al. (2018) (not listed in PubMed): J. Pediatr. Res. 2018, 5: 7-11. https://doi.org/10.4274/jpr.20982
Akbaba et al. (2020) (not listed in PubMed): JPEM, 33 (2): 289-294, https://doi.org/10.1515/jpem-2019-0163
Mwafi et al. (2021) (not listed in PubMed): AIMS Molecular Science, 8 (1): 60-75, https://doi.org/10.3934/molsci.2021005
Noorian et al. (2018) (not listed in PubMed): Meta Gene, 18: 174-176, https://doi.org/10.1016/j.mgene.2018.09.006

Legend: [ HGD full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. HGD DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Original description: Variant_original_description Links: Links Variant remarks: Variant remarks Predicted Mutation Effect**: The effects of the novel missense variants on stability and protein-protein afinity was assessed in the context of the molecular interactions of the wild-type residue using mCSM and DUET. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Mutation HOT-SPOT: mutation_HOT_SPOT Allele code: Allele_code Type: Type of variant at DNA level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Location: Variant location at DNA level. Patient ID: Internal reference to the patient. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the patient, "Submitted:" indicating that the mutation was submitted directly to this database. # Reported: Number of times this case has been reported Geographic origin: Geographic origin of patient Patient/Affected_per_Family: Number of patients per family Families Patients: test

HGD mutation database

homogentisate 1,2-dioxygenase (HGD)