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(1610)

cDNA change

Protein alteration

Genomic reference

RS ID

Location

Protein area

Variation type

SIFT

PolyPhen-2

ACMG classification

Pubmed ID

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.3109_3117del

p.1037_1039del

g.51944235_51944243del

n.a

exon14

N-domain

Inframe deletion

n.a

n.a

Likely pathogenic

36096368

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.3104G>A

p.Gly1035Asp

g.51944248C>T

rs753594031

exon14

N-domain

Missense

/

/

Likely pathogenic

36096368

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

c.3085_3086delAC

p.Thr1029Trpfs*39

g.51944266_51944267del

n.a

exon14

P-domain

Frameshift

n.a

n.a

Pathogenic

7762553,7626145

c.3084_3085delGA

p.Lys1028Asnfs*40

g.51944267_51944268del

n.a

exon14

P-domain

Frameshift

n.a

n.a

Pathogenic

10502777

c.3083A>G

p.Lys1028Arg

g.51944269T>C

rs1268840062

exon14

P-domain

Missense

/

Probably damaging (0.993)

Likely pathogenic

27022412

c.3083_3085delinsG

p.Lys1028Serfs*40

g.51944267_51944269delinsC

rs1331370011

exon14

P-domain

Frameshift

n.a

n.a

Pathogenic

8533760

c.3082_3085delinsCG

p.Lys1028Argfs*40

g.51944267_51944270delinsGC

n.a

exon14

P-domain

Frameshift

n.a

n.a

Pathogenic

18373411

c.3082A>T

p.Lys1028*

g.51944270T>A

rs757877698

exon14

P-domain

Nonsense

n.a

n.a

Pathogenic

37737146

c.3079G>A

p.Asp1027Asn

g.51944273C>T

rs1593672840

exon14

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

26799313

c.3079G>C

p.Asp1027His

g.51944273C>G

rs1593672840

exon14

P-domain

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

29321352

c.3079G>T

p.Asp1027Tyr

g.51944273C>A

rs1593672840

exon14

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

30230192

c.3077T>A

p.Phe1026Tyr

g.51944275A>T

n.a

exon14

P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

29914392

c.3074T>A

p.Met1025Lys

g.51944278A>T

rs1555286633

exon14

P-domain

Missense

/

Possibly damaging(0.949)

Likely pathogenic

22677543

c.3074T>G

p.Met1025Arg

g.51944278A>C

rs1555286633

exon14

P-domain

Missense

/

Possibly damaging(0.536)

Likely pathogenic

18034201

c.3071T>C

p.Val1024Ala

g.51944281A>G

rs1416453532

exon14

P-domain

Missense

/

Probably damaging (0.999)

Pathogenic

17587212

c.3071_3072delTG

p.Val1024Aspfs*3

g.51944280_51944281del

rs1957519682

exon14

P-domain

Frameshift

n.a

n.a

Pathogenic

35220961

c.3062T>A

p.Ile1021Lys

g.51944290A>T

rs949421614

exon14

P-domain

Missense

/

Probably damaging (0.999)

Likely pathogenic

21610751

c.3061A>G

p.Ile1021Val

g.51944291T>C

rs776490710

exon14

P-domain

Missense

/

Possibly damaging(0.504)

Likely pathogenic

23518715

c.3061-12T>A

n.a

g.51944303A>T

rs1045194246

intron13

P-domain

Splicing

n.a

n.a

Pathogenic

12325021

c.3061-3C>A

n.a

g.51944294G>T

n.a

intron13

P-domain

Splicing

n.a

n.a

Likely pathogenic

18034201

c.3061-2A>G

n.a

g.51944293T>C

rs1957520924

intron13

P-domain

Splicing

n.a

n.a

Pathogenic

29418065

c.3061-1G>A

n.a

g.51944292C>T

rs780955130

intron13

P-domain

Splicing

n.a

n.a

Pathogenic

11243728

c.3060+5G>C

n.a

g.51946279C>G

rs1353373400

intron13

P-domain

Splicing

n.a

n.a

Uncertain significance

33640437

c.3060+5G>T

n.a

g.51946279C>A

rs1353373400

intron13

P-domain

Splicing

n.a

n.a

Likely pathogenic

15952988

c.3060+7C>A

n.a

g.51946277G>T

rs1005774730

intron13

P-domain

Splicing

n.a

n.a

Uncertain significance

10790207

c.3059A>G

p.Lys1020Arg

g.51946285T>C

n.a

exon13

P-domain

Missense

/

Possibly damaging(0.721)

Likely pathogenic

22677543

c.3056A>C

p.His1019Pro

g.51946288T>G

n.a

exon13

P-domain

Missense

Damaging (0.002)

Probably damaging (1.000)

Likely pathogenic

27398169

c.3056A>T

p.His1019Leu

g.51946288T>A

n.a

exon13

P-domain

Missense

Damaging (0.002)

Probably damaging (0.999)

Likely pathogenic

35220961

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