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
entries per page

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_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_VIL_43a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_VIL_43	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_VIL_43b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_VIL_43	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+	AKU_00050	08	c.481G>A + c.962G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_VIL_53a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_VIL_53	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00050	08	c.481G>A + c.16-1G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_VIL_57b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_VIL_57	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00050	08	c.481G>A + c.688C>T	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_VIL_79a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_VIL_79	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00050	08	c.481G>A + c.16-1G>A, c.1017_1019delGAGinsTA	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_VIL_94b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_VIL_94	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_ZAT_1a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_ZAT_1	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_ZAT_1b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_ZAT_1	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.808G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_115a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_115	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_127a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_127	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_127b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_127	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_128a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_128	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_128a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_128	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_135a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_135	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_135b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_135	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00050	08	c.481G>A + c.674G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_136a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_136	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00050	08	c.481G>A + c.175delA	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_137b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_137	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00050	08	c.481G>A + c.1111dupC	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_142b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_142	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+	AKU_00050	08	c.481G>A + c.1111dupC	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_149a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_149	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.808G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_150a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_150	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.1201G>C	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_165a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_165	AKU	Nemethova et al. (2016), Italy:Roma	Compound heterozygous	1	Italy	1	1
+/+	AKU_00050	08	c.481G>A + c.440T>C	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_180a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_180	AKU	Nemethova et al. (2016), France:Marseilles	Compound heterozygous	1	France	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_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_190a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_190	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_190b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_190	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_161a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_161	AKU	Nemethova et al. (2016), Lithuania:Vilnius	Homozygot	1	Lithuania	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_161b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_161	AKU	Nemethova et al. (2016), Lithuania:Vilnius	Homozygot	1	Lithuania	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_162a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_162	AKU	Nemethova et al. (2016), Lithuania:Vilnius	Homozygot	1	Lithuania	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_162b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_162	AKU	Nemethova et al. (2016), Lithuania:Vilnius	Homozygot	1	Lithuania	1	1
+/+	AKU_00050	08	c.481G>A + c.500C>T	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR_0212a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR_0212	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.125A>C	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_221b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_221	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00050	08	c.481G>A + c.454G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0257a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0257	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Austria	1	1
+/+	AKU_00050	08	c.481G>A + c.1115_1117del	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0127a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0127	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Poland	1	1
+/+	AKU_00050	08	c.481G>A + c.449C>T	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0105a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0105	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Sweeden	1	1
+/+	AKU_00050	08	c.481G>A + c.1037T>C	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0311b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0311	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	2	1
+/+	AKU_00050	08	c.481G>A + c.680T>C	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_235a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_235	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	1	1
+/+	AKU_00050	08	c.481G>A + c.440T>C	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0318a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0318	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_236a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_236	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	2	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_236b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_236	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	2	1
+/+	AKU_00050	08	c.481G>A + c.457dupG	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_241a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_241	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0107a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0107	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Denmark	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0107b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0107	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Denmark	1	1
+/+	AKU_00050	08	c.481G>A + c.16-1G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0110a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0110	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Poland	1	1
+/+	AKU_00050	08	c.481G>A + c.16-1G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0114a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0114	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Serbia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0120a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0120	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Romania	2	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0120b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0120	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Romania	2	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_TR2_0140b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0140	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Poland	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0202a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0202	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0202b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0202	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.1111dupC	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0208a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0208	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.808G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0209a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0209	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0215a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0215	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	2	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0215b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0215	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	2	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0215a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0215	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	2	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0215c	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0215	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	2	1
+/+	AKU_00050	08	c.481G>A + c.533A>G	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0223a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0223	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Hungary	1	1
+/+	AKU_00050	08	c.481G>A + c.158G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0228a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0228	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0230a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0230	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0230b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0230	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0231a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0231	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Hungary	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0231b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0231	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Hungary	1	1
+/+	AKU_00050	08	c.481G>A + c.899T>G	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0233a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0233	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.175delA	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0234a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0234	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.899T>G	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0237b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0237	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.16-1G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0258a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0258	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Poland	2	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0260a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0260	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0260b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0260	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.16-1G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0261a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0261	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.1111dupC	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0263a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0263	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_286a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_286	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_286b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_286	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_290a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_290	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_290b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_290	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.16-1G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_292a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_292	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_293a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_293	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_293b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_293	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_294a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_294	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_294b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_294	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_295a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_295	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_295b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_295	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.470-1G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_296a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_296	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.131T>C	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_297a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_297	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	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_298a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_298	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_300a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_300	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	2	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_300b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_300	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	2	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_302a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_302	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_302b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_302	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_303a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_303	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	2	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_303b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_303	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	2	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_304a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_304	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_304b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_304	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.16-1G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_306a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_306	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_310a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_310	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_310b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_310	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.16-1G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_311a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_311	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_312a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_312	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_312b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_312	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.753C>T	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_313a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_313	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.1188+8T>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_314a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_314	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	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_315a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_315	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1

701 - 800
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Click here to save this list in a tab-delimited text file.

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)