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(1528)

cDNA change

Protein alteration

Genomic reference

RS ID

Location

Protein area

Variation type

SIFT

PolyPhen-2

ACMG classification

Pubmed ID

c.3007G>C

p.Ala1003Pro

g.51946337C>G

rs201497300

exon13

TM6/P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

34400371

c.3004G>A

p.Ala1002Thr

g.51946340C>T

n.a

exon13

TM6

Missense

Damaging (0.002)

Probably damaging (0.996)

Likely pathogenic

29618506

c.3002T>G

p.Val1001Gly

g.51946342A>C

rs1593680974

exon13

TM6

Missense

/

Probably damaging (1.000)

Likely pathogenic

30232804

c.2998G>A

p.Gly1000Arg

g.51946346C>T

rs751078884

exon13

TM6

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

16088907

c.2998G>C

p.Gly1000Arg

g.51946346C>G

rs751078884

exon13

TM6

Missense

/

Probably damaging (1.000)

Likely pathogenic

30230192

c.2997dupC

p.Gly1000Argfs*28

g.51946347dup

rs1957654399

exon13

TM6

Frameshift

n.a

n.a

Pathogenic

10502777

c.2996_3011del

p.Thr999Argfs*18

g.51946333_51946348del

n.a

exon13

TM6/P-domain

Frameshift

n.a

n.a

Pathogenic

30230192

c.2994C>T

p.Gly998Gly

g.51946350G>A

rs373102009

exon13

TM6

Silent/Splicing

n.a

n.a

Likely benign

26799313,33719328

c.2993G>A

p.Gly998Asp

g.51946351C>T

n.a

exon13

TM6

Missense

/

Probably damaging (1.000)

Likely pathogenic

18483695

c.2992_2994delGGC

p.Gly998del

g.51946350_51946352del

n.a

exon13

TM6

Inframe deletion

n.a

n.a

Likely pathogenic

33640437

c.2987T>C

p.Met996Thr

g.51946357A>G

rs770782111

exon13

TM6

Missense

/

Probably damaging (1.000)

Likely pathogenic

16088907

c.2986_3008delinsTATGTGG

p.Met996Tyrfs*21

g.51946336_51946358delinsCCACATA

n.a

exon13

TM6/P-domain

Frameshift

n.a

n.a

Pathogenic

16283883

c.2984T>C

p.Val995Ala

g.51946360A>G

rs777791532

exon13

TM6

Missense

/

Probably damaging (1.000)

Likely pathogenic

7626145

c.2980G>T

p.Ala994Ser

g.51946364C>A

rs1555287372

exon13

TM6

Missense

/

Probably damaging (0.998)

Likely pathogenic

23789284

c.2978C>T

p.Thr993Met

g.51946366G>A

rs200290721

exon13

TM6

Missense

/

Probably damaging (1.000)

Likely pathogenic

18728530

c.2977dupA

p.Thr993Asnfs*35

g.51946367dup

n.a

exon13

TM6

Frameshift

n.a

n.a

Pathogenic

15836726,15811015

c.2976C>A

p.Pro992Pro

g.51946368G>T

rs746358240

exon13

TM6

Silent

n.a

n.a

Likely benign

17823867

c.2976C>T

p.Pro992Pro

g.51946368G>A

rs746358240

exon13

TM6

Silent

n.a

n.a

Likely benign

31059521

c.2975C>A

p.Pro992His

g.51946369G>T

rs201038679

exon13

TM6

Missense

/

Probably damaging (1.000)

Likely pathogenic

15811015

c.2975C>T

p.Pro992Leu

g.51946369G>A

rs201038679

exon13

TM6

Missense

Damaging (0.001)

Probably damaging (1.000)

Pathogenic

9199563,9671269

c.2973G>A

p.Thr991Thr

g.51946371C>T

rs1801246

exon13

TM6

Silent

n.a

n.a

Benign

8533760,7626145

c.2972C>T

p.Thr991Met

g.51946372G>A

rs41292782

exon13

TM6

Missense

/

Probably damaging (1.000)

Likely pathogenic

16088907

c.2971A>G

p.Thr991Ala

g.51946373T>C

rs1476409946

exon13

TM6

Missense

/

Probably damaging (1.000)

Likely pathogenic

33640437,34400371

c.2970C>G

p.Ala990Ala

g.51946374G>C

rs1957658070

exon13

TM6

Silent

n.a

n.a

Likely benign

17300695

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.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

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