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.3912G>T

p.Leu1304Phe

g.51937385C>A

rs748644391

exon19

P-domain/TM7

Missense

/

Probably damaging (1.000)

Likely pathogenic

21610751

c.3910T>A

p.Leu1304Met

g.51937387A>T

n.a

exon19

P-domain/TM7

Missense

/

Probably damaging (1.000)

Likely pathogenic

34601848

c.3904-6C>T

n.a

g.51937399G>A

n.a

intron18

P-domain

Splicing

n.a

n.a

Uncertain significance

15811015

c.3904-3C>G

n.a

g.51937396G>C

n.a

intron18

P-domain

Splicing

n.a

n.a

Uncertain significance

35220961

c.3904-2A>G

n.a

g.51937395T>C

rs1057517233

intron18

P-domain

Splicing

n.a

n.a

Pathogenic

8533760

c.3903+1delG

n.a

g.51937475del

n.a

intron18

P-domain

Splicing

n.a

n.a

Pathogenic

9887381

c.3903+1G>T

n.a

g.51937475C>A

n.a

intron18

P-domain

Splicing

n.a

n.a

Pathogenic

35220961

c.3903+2T>G

n.a

g.51937474A>C

n.a

intron18

P-domain

Splicing

n.a

n.a

Pathogenic

29930488

c.3903+3G>T

n.a

g.51937473C>A

n.a

intron18

P-domain

Splicing

n.a

n.a

Uncertain significance

L2004138265 (Embase)

c.3903+5G>A

n.a

g.51937471C>T

rs1248072291

intron18

P-domain

Splicing

n.a

n.a

Uncertain significance

27022412

c.3903+6C>T

n.a

g.51937470G>A

rs2282057

intron18

P-domain

/

n.a

n.a

Benign

7626145

c.3901dupA

p.Arg1301Lysfs*3

g.51937478dup

n.a

exon18

P-domain

Frameshift

n.a

n.a

Pathogenic

27022412,27398169

c.3896T>G

p.Leu1299Arg

g.51937483A>C

n.a

exon18

P-domain

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

27022412

c.3895C>T

p.Leu1299Phe

g.51937484G>A

rs749472361

exon18

P-domain

Missense

/

Probably damaging(0.973)

Likely pathogenic

17230654,17264425

c.3895delC

p.Ile1300Serfs*30

g.51937484del

rs1957038706

exon18

P-domain

Frameshift

n.a

n.a

Pathogenic

17230654,17264425

c.3892G>A

p.Val1298Ile

g.51937487C>T

rs753044473

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

L617366014 (Embase)

c.3892G>T

p.Val1298Phe

g.51937487C>A

rs753044473

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

L2004138265 (Embase)

c.3892_3894delGTC

p.Val1298del

g.51937485_51937487del

n.a

exon18

P-domain

Inframe deletion

n.a

n.a

Likely pathogenic

10721669

c.3891C>T

p.Val1297Val

g.51937488G>A

rs114771537

exon18

P-domain

Silent

n.a

n.a

Likely benign

35220961

c.3890T>A

p.Val1297Asp

g.51937489A>T

n.a

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

17264425

c.3889G>A

p.Val1297Ile

g.51937490C>T

rs148399850

exon18

P-domain

Missense

/

Possibly damaging(0.871)

Uncertain significance

10544227

c.3888delC

p.Asp1296Glufs*32

g.51937491del

n.a

exon18

P-domain

Frameshift

n.a

n.a

Pathogenic

L2004138265 (Embase)

c.3886G>A

p.Asp1296Asn

g.51937493C>T

rs199821556

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

11954751

c.3885C>T

p.Ala1295Ala

g.51937494G>A

rs200597654

exon18

P-domain

Silent

n.a

n.a

Likely benign

9801873

c.3884C>A

p.Ala1295Asp

g.51937495G>T

rs1340942427

exon18

P-domain

Missense

/

Probably damaging (1.000)

Pathogenic

21645214

c.3884C>T

p.Ala1295Val

g.51937495G>A

rs1340942427

exon18

P-domain

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

23843956

c.3881delC

p.Ala1294Glufs*36

g.51937498del

n.a

exon18

P-domain

Frameshift

n.a

n.a

Pathogenic

24094725

c.3877G>A

p.Glu1293Lys

g.51937502C>T

rs776300396

exon18

P-domain

Missense

Damaging (0.001)

Probably damaging (0.999)

Likely pathogenic

22484412

c.3871G>A

p.Ala1291Thr

g.51937508C>T

n.a

exon18

P-domain

Missense

Damaging (0.008)

Probably damaging (0.995)

Likely pathogenic

26782526

c.3870delG

p.Ala1291Profs*39

g.51937509del

n.a

exon18

P-domain

Frameshift

n.a

n.a

Pathogenic

30702195

c.3863C>G

p.Thr1288Arg

g.51937516G>C

rs373748155

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

16416207

c.3863C>T

p.Thr1288Met

g.51937516G>A

rs373748155

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

17949296

c.3861C>G

p.Gly1287Gly

g.51937518G>C

n.a

exon18

P-domain

Silent

n.a

n.a

Likely benign

27022412

c.3860G>A

p.Gly1287Asp

g.51937519C>T

n.a

exon18

P-domain

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

35220961

c.3859G>A

p.Gly1287Ser

g.51937520C>T

rs762866453

exon18

P-domain

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

16088907

c.3859G>C

p.Gly1287Arg

g.51937520C>G

rs762866453

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

22677543

c.3857C>T

p.Thr1286Ile

g.51937522G>A

rs751483318

exon18

P-domain

Missense

/

Probably damaging(0.997)

Likely pathogenic

30702195

c.3854G>A

p.Gly1285Asp

g.51937525C>T

n.a

exon18

P-domain

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

35220961

c.3852_3875del

p.1285_1292delGTGTDVAI

g.51937504_51937527del

rs1555283826

exon18

P-domain

Inframe deletion

n.a

n.a

Likely pathogenic

8533760

c.3851T>A

p.Ile1284Asn

g.51937528A>T

n.a

exon18

P-domain

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

35220961

c.3851_3876del

p.Ile1284Argfs*11

g.51937503_51937528del

n.a

exon18

P-domain

Frameshift

n.a

n.a

Pathogenic

25089800

c.3848C>T

p.Ala1283Val

g.51937531G>A

n.a

exon18

P-domain

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

27022412

c.3845dupT

p.Ala1283GlyFs*21

g.51937534dup

rs1957043255

exon18

P-domain

Frameshift

n.a

n.a

Pathogenic

34400371

c.3843dupT

p.Val1282Cysfs*22

g.51937536dup

n.a

exon18

P-domain

Frameshift

n.a

n.a

Pathogenic

20082719

c.3842G>A

p.Gly1281Asp

g.51937537C>T

rs755202606

exon18

P-domain

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

17272994

c.3841G>T

p.Gly1281Cys

g.51937538C>A

rs1957043636

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

18034201

c.3839T>G

p.Met1280Arg

g.51937540A>C

n.a

exon18

P-domain

Missense

Damaging (0.000)

Benign (0.084)

Likely pathogenic

35220961

c.3839_3840insTAC

p.Met1280delinsIT

g.51937539_51937540insGTA

n.a

exon18

P-domain

Inframe insertion/deletion

n.a

n.a

Likely pathogenic

15811015

c.3836A>G

p.Asp1279Gly

g.51937543T>C

rs778914828

exon18

P-domain

Missense

Damaging (0.008)

Probably damaging (0.999)

Likely pathogenic

11043508

c.3836dupA

p.Asp1279Glufs*25

g.51937543dup

n.a

exon18

P-domain

Frameshift

n.a

n.a

Pathogenic

24094725

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