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.3201T>G

p.Ser1067Arg

g.51944151A>C

n.a

exon14

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

34400371

c.3200G>A

p.Ser1067Asn

g.51944152C>T

rs2085422358

exon14

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

25376582

c.3199A>G

p.Ser1067Gly

g.51944153T>C

n.a

exon14

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

30232804

c.3193G>C

p.Ala1065Pro

g.51944159C>G

n.a

exon14

N-domain

Missense

/

Probably damaging (0.998)

Likely pathogenic

17300695

c.3191A>C

p.Glu1064Ala

g.51944161T>G

rs374094065

exon14

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

9311736,9482578

c.3190G>A

p.Glu1064Lys

g.51944162C>T

rs376910645

exon14

N-domain

Missense

/

Probably damaging (1.000)

Pathogenic

8533760

c.3188C>T

p.Ala1063Val

g.51944164G>A

rs587783309

exon14

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

10502777,10544227

c.3182G>A

p.Gly1061Glu

g.51944170C>T

rs764131178

exon14

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

10544227,10502777

c.3182_3183delinsAT/AC

p.Gly1061Asp

g.51944169_51944170delinsTA/TG

n.a

exon14

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

30232804

c.3181G>C

p.Gly1061Arg

g.51944171C>G

rs1349853812

exon14

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

30655162,30232804

c.3181G>T

p.Gly1061Trp

g.51944171C>A

rs1349853812

exon14

N-domain

Missense

Damaging (0.006)

Probably damaging (0.978)

Likely pathogenic

35220961

c.3173C>A

p.Ala1058Asp

g.51944179G>T

n.a

exon14

N-domain

Missense

Damaging (0.002)

Probably damaging (1.000)

Likely pathogenic

35220961

c.3170T>C

p.Leu1057Pro

g.51944182A>G

rs373601229

exon14

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

30232804

c.3168delT

p.Leu1057Trpfs∗64

g.51944184del

n.a

exon14

N-domain

Frameshift

n.a

n.a

Pathogenic

L71497209 (Embase)

c.3160A>C

p.Arg1054Arg

g.51944192T>G

rs377586515

exon14

N-domain

Silent

n.a

n.a

Likely benign

10544227

c.3157dupC

p.Leu1053Profs*16

g.51944195dup

rs1555286522

exon14

N-domain

Frameshift

n.a

n.a

Pathogenic

21219664

c.3155C>T

p.Pro1052Leu

g.51944197G>A

rs778543794

exon14

N-domain

Missense

Damaging (0.022)

Probably damaging (0.963)

Pathogenic

10502777

c.3151C>T

p.Leu1051Leu

g.51944201G>A

rs534622837

exon14

N-domain

Silent

n.a

n.a

Likely benign

17823867

c.3147delC

p.Thr1050Hisfs*71

g.51944205del

rs762031690

exon14

N-domain

Frameshift

n.a

n.a

Pathogenic

7762553,7626145

c.3140A>G

p.Asp1047Gly

g.51944212T>C

rs1395504465

exon14

N-domain

Missense

/

Possibly damaging (0.949)

Likely pathogenic

30230192

c.3140A>T

p.Asp1047Val

g.51944212T>A

rs1395504465

exon14

N-domain

Missense

Damaging (0.019)

Probably damaging (0.992)

Likely pathogenic

18034201

c.3140delA

p.Asp1047Valfs*74

g.51944212del

n.a

exon14

N-domain

Frameshift

n.a

n.a

Pathogenic

15967699,16283883

c.3140_3141insA/G

p.Asp1047Glufs*22

g.51944211_51944212insT/C

rs1957514480

exon14

N-domain

Frameshift

n.a

n.a

Pathogenic

30232804

c.3134_3556+689del

Exon 14_intron 16 del

g.51940392_51944218del

n.a

/

N-domain

Large fragment deletion

n.a

n.a

Pathogenic

27992490

c.3128T>C

p.Leu1043Pro

g.51944224A>G

rs1412025509

exon14

N-domain

Missense

/

Probably damaging (0.999)

Likely pathogenic

8931691

c.3124delG

p.Val1042Cysfs*79

g.51944228del

n.a

exon14

N-domain

Frameshift

n.a

n.a

Pathogenic

35782615

c.3122G>C

p.Arg1041Pro

g.51944230C>G

n.a

exon14

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

10544227

c.3121C>T

p.Arg1041Trp

g.51944231G>A

rs746485916

exon14

N-domain

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

9671269

c.3115delG

p.Val1039Serfs*82

g.51944237del

n.a

exon14

N-domain

Frameshift

n.a

n.a

Pathogenic

30230192

c.3115G>T

p.Val1039Phe

g.51944237C>A

n.a

exon14

N-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

30232804

c.3113G>A

p.Arg1038Lys

g.51944239C>T

rs59959366

exon14

N-domain

Missense

/

Benign(0.000)

Uncertain significance

8980283

c.3111delC

p.Arg1038Glyfs*83

g.51944241del

n.a

exon14

N-domain

Frameshift

n.a

n.a

Pathogenic

23333878

c.3106G>A

p.Val1036Ile

g.51944246C>T

rs761147984

exon14

N-domain

Missense

/

Possibly damaging (0.950)

Pathogenic

19062534

c.3105C>T

p.Gly1035Gly

g.51944247G>A

rs200324179

exon14

N-domain

Silent

n.a

n.a

Likely benign

18483695

c.3104G>T

p.Gly1035Val

g.51944248C>A

rs753594031

exon14

N-domain

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

9311736,9199563

c.3101A>C

p.His1034Pro

g.51944251T>G

rs74085882

exon14

P-domain

Missense

/

Possibly damaging (0.949)

Likely pathogenic

29930488

c.3098C>G

p.Thr1033Ser

g.51944254G>C

n.a

exon14

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

15967699

c.3098C>T

p.Thr1033Ile

g.51944254G>A

n.a

exon14

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

27022412

c.3097A>G

p.Thr1033Ala

g.51944255T>C

rs1555286620

exon14

P-domain

Missense

/

Probably damaging (0.999)

Likely pathogenic

10502777

c.3095T>C

p.Ile1032Thr

g.51944257A>G

n.a

exon14

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

27022412

c.3091A>G

p.Thr1031Ala

g.51944261T>C

n.a

exon14

P-domain

Missense

/

Probably damaging (1.000)

Pathogenic

17587212,7823867

c.3091A>T

p.Thr1031Ser

g.51944261T>A

n.a

exon14

P-domain

Missense

/

Probably damaging (1.000)

Pathogenic

9887381

c.3090C>A

p.Gly1030Gly

g.51944262G>T

rs752162642

exon14

P-domain

Silent

n.a

n.a

Likely benign

17300695

c.3089G>A

p.Gly1030Asp

g.51944263C>T

n.a

exon14

P-domain

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

23551039

c.3089G>T

p.Gly1030Val

g.51944263C>A

n.a

exon14

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

31172689

c.3088G>A

p.Gly1030Ser

g.51944264C>T

rs1957518268

exon14

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

26799313

c.3087dupT

p.Gly1030Trpfs*39

g.51944265dup

n.a

exon14

P-domain

Frameshift

n.a

n.a

Pathogenic

35444691

c.3087delT

p.Gly1030Alafs*91

g.51944265del

n.a

exon14

P-domain

Frameshift

n.a

n.a

Pathogenic

27022412

c.3086C>T

p.Thr1029Ile

g.51944266G>A

rs1555286628

exon14

P-domain

Missense

/

Probably damaging (1.000)

Pathogenic

10453196

c.3085A>G

p.Thr1029Ala

g.51944267T>C

n.a

exon14

P-domain

Missense

/

Probably damaging (1.000)

Pathogenic

34470610

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