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.3293C>A

p.Pro1098Gln

g.51942505G>T

n.a

exon15

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

29321352

c.3293C>G

p.Pro1098Arg

g.51942505G>C

n.a

exon15

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

14986826

c.3291G>A/C/T

p.Val1097Val

g.51942507C>T/G/A

rs766632973

exon15

N-domain

Silent

n.a

n.a

Likely benign

8533760

c.3287C>A

p.Ala1096Glu

g.51942511G>T

n.a

exon15

N-domain

Missense

Damaging (0.003)

Probably damaging (0.998)

Likely pathogenic

31172689

c.3285G>A

p.Gln1095Gln

g.51942513C>T

n.a

exon15

N-domain

Silent

n.a

n.a

Likely benign

25982861

c.3284A>C

p.Gln1095Pro

g.51942514T>G

rs1555285891

exon15

N-domain

Missense

/

Probably damaging (0.999)

Likely pathogenic

10502777

c.3282C>G

p.Phe1094Leu

g.51942516G>C

rs1957397703

exon15

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

15024742

c.3275C>T

p.Thr1092Met

g.51942523G>A

rs368545738

exon15

N-domain

Missense

/

Benign(0.257)

Likely pathogenic

29085216

c.3274A>C

p.Thr1092Pro

g.51942524T>G

n.a

exon15

N-domain

Missense

Damaging (0.041)

Possibly damaging (0.860)

Likely pathogenic

27022412

c.3272G>A

p.Cys1091Tyr

g.51942526C>T

rs778825095

exon15

N-domain

Missense

/

Probably damaging (0.999)

Likely Pathogenic

17587212

c.3271T>C

p.Cys1091Arg

g.51942527A>G

n.a

exon15

N-domain

Missense

/

Probably damaging (0.979)

Likely pathogenic

27022412

c.3266G>A

p.Gly1089Glu

g.51942532C>T

rs1555285911

exon15

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

8931691

c.3266G>T

p.Gly1089Val

g.51942532C>A

rs1555285911

exon15

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

9671269

c.3265G>A

p.Gly1089Arg

g.51942533C>T

rs1468895797

exon15

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

34324271

c.3263T>A

p.Leu1088*

g.51942535A>T

rs753250853

exon15

N-domain

Nonsense

n.a

n.a

Pathogenic

15024742

c.3263T>C

p.Leu1088Ser

g.51942535A>G

rs753250853

exon15

N-domain

Missense

Tolerated (0.071)

Probably damaging (1.000)

Likely pathogenic

27022412

c.3259delA

p.Thr1087Profs*34

g.51942539del

n.a

exon15

N-domain

Frameshift

n.a

n.a

Pathogenic

29930488

c.3254dupC

p.Glu1086Argfs*32

g.51942544dup

n.a

exon15

N-domain

Frameshift

n.a

n.a

Pathogenic

32043565

c.3247C>T

p.Leu1083Phe

g.51942551G>A

rs1286080173

exon15

N-domain

Missense

/

Probably damaging (1.000)

Pathogenic

9554743

c.3244G>T

p.Glu1082*

g.51942554C>A

n.a

exon15

N-domain

Nonsense

n.a

n.a

Pathogenic

22484412

c.3244-5C>T

n.a

g.51942559G>A

rs747387270

intron14

N-domain

Splicing

n.a

n.a

Uncertain significance

9554743

c.3244-2A>G

n.a

g.51942556T>C

rs786204584

intron14

N-domain

Splicing

n.a

n.a

Pathogenic

21796144,22484412

c.3244-1G>A

n.a

g.51942555C>T

n.a

intron14

N-domain

Splicing

n.a

n.a

Pathogenic

30232804

c.3243G>A

p.Glu1081Glu

g.51944109C>T

rs768229037

exon14

N-domain

Silent/Splicing

n.a

n.a

Pathogenic

27022412,33719328

c.3243+5G>A

n.a

g.51944104C>T

rs373193482

intron14

N-domain

Splicing

n.a

n.a

Uncertain significance

20818655

c.3243+38A>G

n.a

g.51944071T>C

rs17076116

intron14

/

/

n.a

n.a

Uncertain significance

11405812

c.3237T>C

p.Cys1079Cys

g.51944115A>G

rs1957506216

exon14

N-domain

Silent

n.a

n.a

Likely benign

31059521

c.3236G>A

p.Cys1079Tyr

g.51944116C>T

rs1064797072

exon14

N-domain

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

30232804,35220961

c.3236G>T

p.Cys1079Phe

g.51944116C>A

rs1064797072

exon14

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

21796144

c.3235T>G

p.Cys1079Gly

g.51944117A>C

rs1376645882

exon14

N-domain

Missense

/

Probably damaging (0.999)

Likely pathogenic

31426520

c.3234C>G

p.Tyr1078*

g.51944118C>G

n.a

exon14

N-domain

Nonsense

n.a

n.a

Pathogenic

30232804

c.3233A>G

p.Tyr1078Cys

g.51944119T>C

n.a

exon14

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

29930488

c.3231A>G

p.Lys1077Lys

g.51944121T>C

n.a

exon14

N-domain

Silent

n.a

n.a

Likely benign

25465132

c.3229A>G

p.Lys1077Glu

g.51944123T>C

n.a

exon14

N-domain

Missense

/

Probably damaging (0.992)

Likely pathogenic

30230192

c.3229_3236dup

p.Cys1079*

g.51944116_51944123dup

n.a

exon14

N-domain

Frameshift

n.a

n.a

Pathogenic

35220961

c.3227C>T

p.Thr1076Ile

g.51944125G>A

n.a

exon14

N-domain

Missense

/

Probably damaging (0.999)

Likely pathogenic

25465132

c.3222_3243+21del43

Exon 14_intron 14 del

g.51944088_51944130del

n.a

/

N-domain

Large fragment deletion

n.a

n.a

Pathogenic

L2004138265 (Embase)

c.3221C>T

p.Ala1074Val

g.51944131G>A

rs1206016866

exon14

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

27022412

c.3220G>A

p.Ala1074Thr

g.51944132C>T

rs1196142320

exon14

N-domain

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

30576569

c.3215G>T

p.Gly1072Val

g.51944137C>A

rs1397311718

exon14

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

34324271

c.3212T>C

p.Leu1071Ser

g.51944140A>G

n.a

exon14

N-domain

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

35220961

c.3212T>G

p.Leu1071Trp

g.51944140A>C

n.a

exon14

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

30232804

c.3211T>G

p.Leu1071Val

g.51944141A>C

rs748003525

exon14

N-domain

Missense

/

Probably damaging (0.999)

Likely pathogenic

L635175523 (Embase)

c.3210C>T

p.Pro1070Pro

g.51944142G>A

rs587783310

exon14

N-domain

Silent

n.a

n.a

Likely benign

15967699

c.3209C>G

p.Pro1070Arg

g.51944143G>C

rs1173623580

exon14

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

27022412,27706781

c.3207C>A

p.His1069Gln

g.51944145G>T

rs76151636

exon14

N-domain

Missense

/

Probably damaging (1.000)

Pathogenic

8298641

c.3207C>T

p.His1069Tyr

g.51944145G>A

rs76151636

exon14

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

21645214

c.3205C>A

p.His1069Asn

g.51944147G>T

rs1001437239

exon14

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

22308153

c.3205C>T

p.His1069Tyr

g.51944147G>A

rs1001437239

exon14

N-domain

Missense

/

Probably damaging (1.000)

Pathogenic

29930488

c.3203A>G

p.Glu1068Gly

g.51944149T>C

rs1555286478

exon14

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

10544227

1... << 5 6 7 8 91011 12 13 14 15 >> 31

Copyright © 2022 wilsondisease.azyfy.com All Rights Reserved 版权所有：安徽省中医院皖ICP备06002933号