International Wilson Disease Mutation Database-国际肝豆状核变性基因突变数据库

Welcome to our Wilson Disease Mutation Database

Result(1610)

cDNA change

Protein alteration

Genomic reference

RS ID

Location

Protein area

Variation type

SIFT

PolyPhen-2

ACMG classification

Pubmed ID

c.3691G>A

p.Ala1231Thr

g.51939059C>T

n.a

exon17

P-domain

Missense

/

/

Uncertain significance

36112267

c.3689T>C

p.Ile1230Thr

g.51939061A>G

n.a

exon17

P-domain

Missense

/

Probably damaging (0.988)

Pathogenic

30702195

c.3688A>G

p.Ile1230Val

g.51939062T>C

rs200911496

exon17

P-domain

Missense

/

Probably damaging (0.972)

Likely pathogenic

18373411

c.3686C>G

p.Ala1229Gly

g.51939064G>C

rs1234490439

exon17

P-domain

Missense

Damaging (0.006)

Probably damaging (0.997)

Likely pathogenic

35220961

c.3683G>C

p.Arg1228Thr

g.51939067C>G

n.a

exon17

P-domain

Missense

/

Possibly damaging(0.661)

Likely pathogenic

18373411

c.3682A>T

p.Arg1228*

g.51939068T>A

n.a

exon17

P-domain

Nonsense

n.a

n.a

Pathogenic

21796144

c.3680C>A

p.Ala1227Asp

g.51939070G>T

rs1566451314

exon17

P-domain

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

30232804,35220961

c.3679G>A

p.Ala1227Thr

g.51939071C>T

rs1957152812

exon17

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

L632941260 (Embase)

c.3679G>C

p.Ala1227Pro

g.51939071C>G

rs1957152812

exon17

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

27398169

c.3678del

p.Ala1227Profs*103

g.51939072del

n.a

exon17

P-domain

Frameshift

n.a

n.a

Pathogenic

37737146

c.3677C>T

p.Thr1226Ile

g.51939073G>A

n.a

exon17

P-domain

Missense

/

Probably damaging(0.999)

Likely pathogenic

27398169

c.3671G>A

p.Arg1224Gln

g.51939079C>T

rs532177115

exon17

P-domain

Missense

/

Probably damaging(0.992)

Likely pathogenic

28515472

c.3671G>T

p.Arg1224Leu

g.51939079C>A

rs532177115

exon17

P-domain

Missense

/

Possibly damaging(0.942)

Likely pathogenic

30097039

c.3665A>T

p.Asp1222Val

g.51939085T>A

n.a

exon17

P-domain

Missense

/

Probably damaging (1.000)

Pathogenic

10544227

c.3664G>A

p.Asp1222Asn

g.51939086C>T

n.a

exon17

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

10453196

c.3664G>T

p.Asp1222Tyr

g.51939086C>A

n.a

exon17

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

9311736

c.3663_3664delGG

p.Gly1221Glyfs*35

g.51939086_51939087del

n.a

exon17

P-domain

Frameshift

n.a

n.a

Pathogenic

L2004138265 (Embase)

c.3662G>A

p.Gly1221Glu

g.51939088C>T

rs1486594906

exon17

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

16088907

c.3662G>T

p.Gly1221Val

g.51939088C>A

rs1486594906

exon17

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

L619675390 (Embase)

c.3662_3664delGGG

p.Gly1221del

g.51939086_51939088del

rs886042519

exon17

P-domain

Inframe deletion

n.a

n.a

Likely pathogenic

26782526

c.3659C>G

p.Thr1220Arg

g.51939091G>C

rs193922107

exon17

P-domain

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

35220961

c.3659C>T

p.Thr1220Met

g.51939091G>A

rs193922107

exon17

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

8931691

c.3659_3660insTGA

p.1220_1221insE

g.51939090_51939091insTCA

n.a

exon17

P-domain

Inframe insertion

n.a

n.a

Likely pathogenic

36253962

c.3655A>T

p.Ile1219Phe

g.51939095T>A

n.a

exon17

P-domain

Missense

/

Probably damaging(0.996)

Likely pathogenic

31708252

c.3653T>C

p.Leu1218Pro

g.51939097A>G

n.a

exon17

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

27022412

c.3649_3654delGTTCTG

p.1217_1218delVL

g.51939096_51939101del

rs781266802

exon17

P-domain

Inframe deletion

n.a

n.a

Likely pathogenic

7626145,7762553

c.3646G>A

p.Val1216Met

g.51939104C>T

rs776280797

exon17

P-domain

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

9671269

c.3645C>T

p.Asp1215Asp

g.51939105G>A

rs763228636

exon17

P-domain

Silent

n.a

n.a

Likely benign

10544227

c.3644A>G

p.Asp1215Gly

g.51939106T>C

rs1555284575

exon17

P-domain

Missense

/

Probably damaging(0.994)

Likely pathogenic

24094725

c.3643G>T

p.Asp1215Tyr

g.51939107C>A

n.a

exon17

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

16998622

c.3641_3642del

p.Val1214Glyfs*44

g.51939108_51939109del

n.a

exon17

P-domain

Frameshift

n.a

n.a

Pathogenic

36112267

c.3638G>A

p.Gly1213Asp

g.51939112C>T

rs1555284582

exon17

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

29321352

c.3638G>T

p.Gly1213Val

g.51939112C>A

rs1555284582

exon17

P-domain

Missense

/

Probably damaging (1.000)

Pathogenic

9482578

c.3630G>A

p.Gln1210Gln

g.51939120C>T

n.a

exon17

P-domain

Silent

n.a

n.a

Likely benign

21219664

c.3627_3630delGCAG

p.Gln1210Alafs*8

g.51939120_51939123del

n.a

exon17

P-domain

Frameshift

n.a

n.a

Pathogenic

7626145,7762553

c.3627_3632delGCAGAG

p.1210_1211delQS

g.51939118_51939123del

n.a

exon17

P-domain

Inframe deletion

n.a

n.a

Likely pathogenic

34400371

c.3620A>G

p.His1207Arg

g.51939130T>C

rs7334118

exon17

P-domain

Missense

/

Benign(0.044)

Benign

10544227

c.3605C>A

p.Ala1202Asp

g.51939145G>T

rs778719442

exon17

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

30655162

c.3605C>G

p.Ala1202Gly

g.51939145G>C

rs778719442

exon17

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

23275100

c.3601G>A

p.Glu1201Lys

g.51939149G>T

n.a

exon17

P-domain

Missense

/

Probably damaging(0.993)

Likely pathogenic

30232804

c.3599A>C

p.Gln1200Pro

g.51939151T>G

rs747764483

exon17

P-domain

Missense

/

Benign(0.000)

Likely pathogenic

L30234991 (Embase)

c.3598C>T

p.Gln1200*

g.51939152G>A

rs786204658

exon17

P-domain

Nonsense

n.a

n.a

Likely Pathogenic

17317524

c.3593T>C

p.Val1198Ala

g.51939157A>G

rs1593652435

exon17

P-domain

Missense

/

/

Uncertain significance

37681011

c.3588dupC

p.Ala1197Argfs*62

g.51939162dup

rs1957160342

exon17

P-domain

Frameshift

n.a

n.a

Pathogenic

8938442

c.3587A>G

p.Asp1196Gly

g.51939163T>C

n.a

exon17

P-domain

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

27022412

c.3584C>T

p.Ala1195Val

g.51939166G>A

n.a

exon17

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

27398169

c.3577delG

p.Ala1193Glnfs*26

g.51939173del

n.a

exon17

N-domain

Frameshift

n.a

n.a

Pathogenic

21645214

c.3577G>C

p.Ala1193Pro

g.51939173C>G

rs769531525

exon17

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

16696937

c.3575T>A

p.Ile1192Asn

g.51939175A>T

n.a

exon17

N-domain

Missense

/

Probably damaging (0.967)

Likely pathogenic

25678388

c.3569G>A

p.Gly1190Glu

g.51939181C>T

rs767681386

exon17

N-domain

Missense

/

Probably damaging (0.986)

Likely pathogenic

30232804

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