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.2968G>C

p.Ala990Pro

g.51946376C>G

rs1297798449

exon13

TM6

Missense

/

Probably damaging (1.000)

Likely pathogenic

23551039

c.2963G>A

p.Gly988Glu

g.51946381C>T

rs1057518867

exon13

TM6

Missense

/

Probably damaging (1.000)

Likely pathogenic

23789284

c.2963G>T

p.Gly988Val

g.51946381C>A

rs1057518867

exon13

TM6

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

27982432

c.2962G>A

p.Gly988Arg

g.51946382C>T

rs199623434

exon13

TM6

Missense

/

Probably damaging (0.997)

Likely pathogenic

22677543

c.2962G>C

p.Gly988Arg

g.51946382C>G

rs199623434

exon13

TM6

Missense

/

Probably damaging (0.997)

Likely pathogenic

16283883

c.2960T>C

p.Leu987Pro

g.51946384A>G

n.a

exon13

TM6

Missense

/

Probably damaging (1.000)

Likely pathogenic

23235335

c.2957C>T

p.Ser986Phe

g.51946387G>A

rs1337256944

exon13

TM6

Missense

Damaging (0.001)

Probably damaging (1.000)

Pathogenic

20465995,20931554

c.2954G>A

p.Cys985Tyr

g.51946390C>T

n.a

exon13

TM6

Missense

/

Probably damaging (1.000)

Likely pathogenic

10447265

c.2947T>A

p.Cys983Ser

g.51946397A>T

n.a

exon13

TM6

Missense

/

Probably damaging (1.000)

Likely pathogenic

L2004138265 (Embase)

c.2945C>T

p.Ala982Val

g.51946399G>A

rs1487547257

exon13

TM6

Missense

/

Probably damaging (1.000)

Likely pathogenic

17949296

c.2944G>A

p.Ala982Thr

g.51946400C>T

rs750407121

exon13

TM6

Missense

/

Probably damaging (1.000)

Likely pathogenic

24476933

c.2939G>A

p.Cys980Tyr

g.51946405C>T

rs1038582488

exon13

TM6

Missense

Damaging (0.001)

Probably damaging (0.997)

Likely pathogenic

16402213

c.2939G>C

p.Cys980Ser

g.51946405C>G

rs1038582488

exon13

TM6

Missense

/

Benign(0.072)

Likely pathogenic

29321352

c.2939G>T

p.Cys980Phe

g.51946405C>A

rs1038582488

exon13

TM6

Missense

/

Probably damaging (0.997)

Likely pathogenic

31172689

c.2938T>C

p.Cys980Arg

g.51946406A>G

rs576235742

exon13

TM6

Missense

Damaging (0.003)

Probably damaging (1.000)

Likely pathogenic

23235335

c.2936T>A

p.Leu979Gln

g.51946408A>T

n.a

exon13

TM6

Missense

/

Probably damaging (1.000)

Likely pathogenic

17317524

c.2936T>C

p.Leu979Pro

g.51946408A>G

n.a

exon13

TM6

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

35220961,30232804

c.2932dupG

p.Val978Glyfs*50

g.51946412dup

n.a

exon13

TM6

Frameshift

n.a

n.a

Pathogenic

34324271

c.2932delG

p.Val987Cysfs*44

g.51946412del

n.a

exon13

TM6

Frameshift

n.a

n.a

Pathogenic

29930488

c.2932G>A

p.Val978Met

g.51946412C>T

n.a

exon13

TM6

Missense

/

Probably damaging (1.000)

Likely pathogenic

24094725

c.2930C>G

p.Thr977Arg

g.51946414G>C

rs72552255

exon13

TM6

Missense

/

Probably damaging (1.000)

Likely pathogenic

21034864

c.2930C>T

p.Thr977Met

g.51946414G>A

rs72552255

exon13

TM6

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

7626145

c.2930C>A

p.Thr977Lys

g.51946414G>T

rs72552255

exon13

TM6

Missense

/

/

Likely pathogenic

37737146

c.2924C>A

p.Ser975Tyr

g.51946420G>T

rs778163447

exon13

TM6

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

14986826

c.2922G>A

p.Thr974Thr

g.51946422C>T

rs751802421

exon13

TM6

Silent

n.a

n.a

Likely benign

21796144

c.2921C>T

p.Thr974Met

g.51946423G>A

rs201061621

exon13

TM6

Missense

/

Probably damaging (1.000)

Likely pathogenic

18373411

c.2913T>A

p.Ala971Ala

g.51946431A>T

n.a

exon13

TM6

Silent

n.a

n.a

Likely benign

27706781

c.2912C>T

p.Ala971Val

g.51946432G>A

rs770340441

exon13

TM6

Missense

/

Probably damaging (1.000)

Likely pathogenic

18373411

c.2906G>A

p.Arg969Gln

g.51946438C>T

rs121907996

exon13

TM6

Missense

Tolerated (0.382)

Probably damaging (1.000)

Pathogenic

8533760

c.2905C>T

p.Arg969Trp

g.51946439G>A

rs774028495

exon13

TM6

Missense

Damaging (0.016)

Probably damaging (1.000)

Likely pathogenic

17949296

c.2903T>A

p.Ile968Asn

g.51946441A>T

n.a

exon13

TM6

Missense

Damaging (0.001)

Probably damaging (0.977)

Likely pathogenic

35220961

c.2899A>T

p.Ile967Phe

g.51946445T>A

rs60003608

exon13

TM5/TM6

Missense

/

Possibly damaging(0.872)

Likely pathogenic

8938442

c.2894_2895delAG

p.Glu965Glyfs*62

g.51946449_51946450del

n.a

exon13

TM5/TM6

Frameshift

n.a

n.a

Pathogenic

35220961

c.2891_2894delCAGA

p.Thr964Argfs*2

g.51946450_51946453del

n.a

exon13

TM5/TM6

Frameshift

n.a

n.a

Pathogenic

35220961

c.2887C>T

p.Gln963*

g.51946457G>A

n.a

exon13

TM5/TM6

Nonsense

n.a

n.a

Pathogenic

14986826

c.2887delC

p.Gln963Argfs*4

g.51946457del

n.a

exon13

TM5/TM6

Frameshift

n.a

n.a

Pathogenic

14986826

c.2871delC

p.Asn958Thrfs*9

g.51946473del

rs1957668488

exon13

TM5/TM6

Frameshift

n.a

n.a

Pathogenic

9199563

c.2866-1521G>A

n.a

g.51947999C>T

rs915988161

intron12

TM5/TM6

Splicing

n.a

n.a

Pathogenic

32770663

c.2866-105G>A

n.a

g.51946583C>T

rs41292784

intron12

/

/

n.a

n.a

Uncertain significance

16133174

c.2866-90G>T

n.a

g.51946568C>A

rs2296246

intron12

/

/

n.a

n.a

Uncertain significance

16510432

c.2866-13G>C

n.a

g.51946491C>G

rs7325983

intron12

/

/

n.a

n.a

Benign

7626145

c.2866-7T>C

n.a

g.51946485A>G

n.a

intron12

/

/

n.a

n.a

Uncertain significance

14986826

c.2866-6T>G

n.a

g.51946484A>C

rs751890141

intron12

TM5/TM6

Splicing

n.a

n.a

Pathogenic

12325021

c.2866-3C>G

n.a

g.51946481G>C

n.a

intron12

TM5/TM6

Splicing

n.a

n.a

Uncertain significance

30232804

c.2866-2A>G

n.a

g.51946480T>C

rs1377418826

intron12

TM5/TM6

Splicing

n.a

n.a

Pathogenic

22087377

c.2866-1G>C

n.a

g.51946479C>G

n.a

intron12

TM5/TM6

Splicing

n.a

n.a

Pathogenic

25678388

c.2866-14T>G

n.a

g.51946492A>C

rs1226349409

intron12

TM5/TM6

Splicing

n.a

n.a

Uncertain significance

36966606

c.2866-2A>C

n.a

g.51946480T>G

rs1377418826

intron12

TM5/TM6

Splicing

n.a

n.a

Pathogenic

36966606

c.2865+1G>A

n.a

g.51949661C>T

rs587783306

intron12

TM5/TM6

Splicing

n.a

n.a

Likely pathogenic

15967699

c.2865+5G>T

n.a

g.51949657C>A

rs765192555

intron12

TM5/TM6

Splicing

n.a

n.a

Uncertain significance

23518715

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