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.3835G>T

p.Asp1279Tyr

g.51937544C>A

n.a

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

16207219

c.3833C>G

p.Ala1278Gly

g.51937546G>C

rs1375884723

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

22677543

c.3833C>T

p.Ala1278Val

g.51937546G>A

rs1375884723

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

9222767

c.3832G>A

p.Ala1278Thr

g.51937547C>T

n.a

exon18

P-domain

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

24094725

c.3829C>T

p.Gln1277*

g.51937550G>A

n.a

exon18

P-domain

Nonsense

n.a

n.a

Pathogenic

18286826

c.3824T>C

p.Leu1275Ser

g.51937555A>G

rs1957044307

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

27706781

c.3821C>T

p.Ala1274Val

g.51937558G>A

rs1555283882

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

23518715

c.3820G>A

p.Ala1274Thr

g.51937559C>T

n.a

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

22677543

c.3818C>A

p.Pro1273Gln

g.51937561G>T

rs758355520

exon18

P-domain

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

16696937

c.3818C>T

p.Pro1273Leu

g.51937561G>A

rs758355520

exon18

P-domain

Missense

Damaging (0.000)

Probably damaging (1.000)

Pathogenic

8931691

c.3817C>T

p.Pro1273Ser

g.51937562G>A

rs1250943420

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

17272994

c.3815C>G

p.Ser1272Cys

g.51937564G>C

rs1957045038

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

30097039

c.3815C>T

p.Ser1272Tyr

g.51937564G>A

rs1957045038

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

33573009

c.3813C>A

p.Asp1271Glu

g.51937566G>T

n.a

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

10790207

c.3812A>C

p.Asp1271Ala

g.51937567T>G

rs1957045165

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

L2004138265 (Embase)

c.3811G>A

p.Asp1271Asn

g.51937568C>T

n.a

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

15967699

c.3809A>C

p.Asn1270Thr

g.51937570T>G

rs121907990

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

18286826

c.3809A>G

p.Asn1270Ser

g.51937570T>C

rs121907990

exon18

P-domain

Missense

Damaging (0.000)

Probably damaging (1.000)

Pathogenic

8298641

c.3809A>T

p.Asn1270Ile

g.51937570T>A

rs121907990

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

22484412

c.3808A>G

p.Asn1270Asp

g.51937571T>C

rs916557902

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

29321352

c.3802G>A

p.Gly1268Arg

g.51937577C>T

rs1314712150

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

16649058

c.3800A>C

p.Asp1267Ala

g.51937579T>G

rs1555283916

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

9452121

c.3800A>G

p.Asp1267Gly

g.51937579T>C

rs1555283916

exon18

P-domain

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

28717664

c.3800A>T

p.Asp1267Val

g.51937579T>A

rs1555283916

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

18373411

c.3799delG

p.Asp1267Metfs*63

g.51937580del

n.a

exon18

P-domain

Frameshift

n.a

n.a

Pathogenic

L2007097869 (Embase)

c.3799G>A

p.Asp1267Asn

g.51937580C>T

n.a

exon18

P-domain

Missense

Damaging (0.000)

Probably damaging (0.997)

Likely pathogenic

21219664

c.3798G>T

p.Gly1266Gly

g.51937581C>A

rs1048771325

exon18

P-domain

Silent

n.a

n.a

Likely benign

27706781

c.3797G>A

p.Gly1266Glu

g.51937582C>T

rs1566444586

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

23235335

c.3797G>T

p.Gly1266Val

g.51937582C>A

rs1566444586

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

9311736

c.3796G>A

p.Gly1266Arg

g.51937583C>T

rs121907992

exon18

P-domain

Missense

/

Probably damaging (1.000)

Pathogenic

7762553

c.3796G>C

p.Gly1266Arg

g.51937583C>G

rs121907992

exon18

P-domain

Missense

Damaging (0.000)

Probably damaging (1.000)

Pathogenic

21219664

c.3796G>T

p.Gly1266Trp

g.51937583C>A

rs121907992

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

21832955

c.3796_3797delinsAA

p.Gly1266Lys

g.51937582_51937583delinsTT

n.a

exon18

P-domain

Missense

/

Probably damaging (0.998)

Likely pathogenic

7626145

c.3794_3797dupTGGG

p.Asp1267Glyfs*6

g.51937582_51937585dup

n.a

exon18

P-domain

Frameshift

n.a

n.a

Pathogenic

35220961

c.3794_3803del

p.Val1265Glyfs*62

g.51937576_51937585del

n.a

exon18

P-domain

Frameshift

n.a

n.a

Pathogenic

15967699

c.3793G>A

p.Val1265Met

g.51937586C>T

rs1957046996

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

26483271

c.3793G>T

p.Val1265Leu

g.51937586C>A

rs1957046996

exon18

P-domain

Missense

/

Probably damaging (0.999)

Likely pathogenic

34470610

c.3791T>C

p.Met1264Thr

g.51937588A>G

n.a

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

27022412

c.3787delG

p.Ala1263Profs*67

g.51937592del

rs758147392

exon18

P-domain

Frameshift

n.a

n.a

Pathogenic

21707886

c.3784G>T

p.Val1262Phe

g.51937595C>A

rs769484789

exon18

P-domain

Missense

/

Probably damaging (1.000)

Pathogenic

10544227

c.3776G>A

p.Gly1259Glu

g.51937603C>T

rs1248574088

exon18

P-domain

Missense

/

Probably damaging (0.992)

Likely pathogenic

30097039

c.3776G>T

p.Gly1259Val

g.51937603C>A

rs1248574088

exon18

P-domain

Missense

/

Probably damaging (0.998)

Likely pathogenic

27022412

c.3772A>T

p.Lys1258*

g.51937607T>A

rs1566444909

exon18

P-domain

Nonsense

n.a

n.a

Pathogenic

15024742

c.3772_3775dupAAAG

p.Gly1259Glufs*14

g.51937604_51937607dup

n.a

exon18

P-domain

Frameshift

n.a

n.a

Pathogenic

32794656

c.3770_3771insG

p.Asn1257Lysfs*2

g.51937608_51937609insC

n.a

exon18

P-domain

Frameshift

n.a

n.a

Pathogenic

15811015

c.3767A>G

p.Gln1256Arg

g.51937612T>C

rs1555283946

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

15811015

c.3766_3767dupCA

p.Gln1256Hisfs*75

g.51937612_51937613dup

rs1957048711

exon18

P-domain

Frameshift

n.a

n.a

Pathogenic

23235335

c.3763C>A

p.Leu1255Ile

g.51937616G>T

rs1177144141

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

12544487

c.3763C>T

p.Leu1255Phe

g.51937616G>A

rs1177144141

exon18

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

30232804

c.3762G>C

p.Glu1254Asp

g.51937617C>G

n.a

exon18

P-domain

Missense

/

Probably damaging (0.975)

Likely pathogenic

30230192

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