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(639)

cDNA change

Protein alteration

Genomic reference

RS ID

Location

Protein area

Variation type

SIFT

PolyPhen-2

ACMG classification

Pubmed ID

c.3044T>G

p.Leu1015Arg

g.51946300A>C

rs1334355798

exon13

TM6/P-domain

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

35220961

c.3043C>A

p.Leu1015Met

g.51946302G>T

rs1438628867

exon13

TM6/P-domain

Missense

/

Probably damaging (0.999)

Likely pathogenic

30655162

c.3041C>T

p.Pro1014Leu

g.51946303G>A

n.a

exon13

TM6/P-domain

Missense

/

Probably damaging (1.000)

Likely pathogenic

21219664

c.3029A>C

p.Lys1010Thr

g.51946315T>G

rs747584649

exon13

TM6/P-domain

Missense

/

Probably damaging (0.999)

Pathogenic

25089800

c.3029_3030insT

p.Lys1010Asnfs*18

g.51946314_51946315insA

n.a

exon13

TM6/P-domain

Frameshift

n.a

n.a

Pathogenic

14986826

c.3028A>G

p.Lys1010Glu

g.51946316T>C

rs1414727042

exon13

TM6/P-domain

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

27982432

c.3015C>T

p.Asn1005Asn

g.51946329G>A

rs74085888

exon13

TM6/P-domain

Silent

n.a

n.a

Benign

35220961

c.3010C>T

p.Gln1004*

g.51946334G>A

rs1448968475

exon13

TM6/P-domain

Nonsense

n.a

n.a

Pathogenic

27022412

c.3009G>A

p.Ala1003Ala

g.51946335C>T

rs1801247

exon13

TM6/P-domain

Silent

n.a

n.a

Benign

23235335

c.3008C>T

p.Ala1003Val

g.51946336G>A

rs775055397

exon13

TM6/P-domain

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

27022412

c.3007G>A

p.Ala1003Thr

g.51946337C>T

rs201497300

exon13

TM6/P-domain

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

25089800

c.3004G>A

p.Ala1002Thr

g.51946340C>T

n.a

exon13

TM6

Missense

Damaging (0.002)

Probably damaging (0.996)

Likely pathogenic

35220961

c.2998G>A

p.Gly1000Arg

g.51946346C>T

rs751078884

exon13

TM6

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

30702195

c.2975C>T

p.Pro992Leu

g.51946369G>A

rs201038679

exon13

TM6

Missense

Damaging (0.001)

Probably damaging (1.000)

Pathogenic

9829905

c.2973G>A

p.Thr991Thr

g.51946371C>T

rs1801246

exon13

TM6

Silent

n.a

n.a

Benign

23235335

c.2963G>T

p.Gly988Val

g.51946381C>A

rs1057518867

exon13

TM6

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

27982432

c.2960T>C

p.Leu987Pro

g.51946384A>G

n.a

exon13

TM6

Missense

/

Probably damaging (1.000)

Likely pathogenic

23235335

c.2957C>T

p.Ser986Phe

g.51946387G>A

rs1337256944

exon13

TM6

Missense

Damaging (0.001)

Probably damaging (1.000)

Pathogenic

20465995,20931554

c.2947T>C

p.Cys983Arg

g.51946397A>T

n.a

exon13

TM6

Missense

/

Probably damaging (1.000)

Likely pathogenic

32911910

c.2945C>T

p.Ala982Val

g.51946399G>A

rs1487547257

exon13

TM6

Missense

/

Probably damaging (1.000)

Likely pathogenic

30655162

c.2944G>A

p.Ala982Thr

g.51946400C>T

rs750407121

exon13

TM6

Missense

/

Probably damaging (1.000)

Likely pathogenic

24476933

c.2939G>A

p.Cys980Tyr

g.51946405C>T

rs1038582488

exon13

TM6

Missense

Damaging (0.001)

Probably damaging (0.997)

Likely pathogenic

16402213

c.2939G>T

p.Cys980Phe

g.51946405C>A

rs1038582488

exon13

TM6

Missense

/

Probably damaging (0.997)

Likely pathogenic

31172689

c.2938T>C

p.Cys980Arg

g.51946406A>G

rs576235742

exon13

TM6

Missense

Damaging (0.003)

Probably damaging (1.000)

Likely pathogenic

23235335

c.2936T>C

p.Leu979Pro

g.51946408A>G

n.a

exon13

TM6

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

35220961

c.2932dupG

p.Val978Glyfs*50

g.51946412dup

n.a

exon13

TM6

Frameshift

n.a

n.a

Pathogenic

34324271

c.2930C>T

p.Thr977Met

g.51946414G>A

rs72552255

exon13

TM6

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

26782526,27022412

c.2924C>A

p.Ser975Tyr

g.51946420G>T

rs778163447

exon13

TM6

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

14986826

c.2922G>A

p.Thr974Thr

g.51946422C>T

rs751802421

exon13

TM6

Silent

n.a

n.a

Likely benign

21796144

c.2913T>A

p.Ala971Ala

g.51946431A>T

n.a

exon13

TM6

Silent

n.a

n.a

Likely benign

27706781

c.2906G>A

p.Arg969Gln

g.51946438C>T

rs121907996

exon13

TM6

Missense

Tolerated (0.382)

Probably damaging (1.000)

Pathogenic

27706781

c.2905C>T

p.Arg969Trp

g.51946439G>A

rs774028495

exon13

TM6

Missense

Damaging (0.016)

Probably damaging (1.000)

Likely pathogenic

27022412

c.2903T>A

p.Ile968Asn

g.51946441A>T

n.a

exon13

TM6

Missense

Damaging (0.001)

Probably damaging (0.977)

Likely pathogenic

35220961

c.2894_2895del

p.Glu965Glyfs*62

g.51946449_51946450del

n.a

exon13

TM5/TM6

Frameshift

n.a

n.a

Pathogenic

35220961

c.2891_2894del

p.Thr964Argfs*2

g.51946450_51946453del

n.a

exon13

TM5/TM6

Frameshift

n.a

n.a

Pathogenic

35220961

c.2887C>T

p.Gln963*

g.51946457G>A

n.a

exon13

TM5/TM6

Nonsense

n.a

n.a

Pathogenic

14986826

c.2887delC

p.Gln963Argfs*4

g.51946457del

n.a

exon13

TM5/TM6

Frameshift

n.a

n.a

Pathogenic

14986826

c.2866-90G>T

n.a

g.51946568C>A

rs2296246

intron12

/

/

n.a

n.a

Uncertain significance

16510432

c.2866-13G>C

n.a

g.51946491C>G

rs7325983

intron12

/

/

n.a

n.a

Benign

21796144

c.2866-7T>C

n.a

g.51946485A>G

n.a

intron12

/

/

n.a

n.a

Uncertain significance

14986826

c.2855G>A

p.Arg952Lys

g.51949672C>T

rs732774

exon12

TM5/TM6

Missense

/

Benign(0.000)

Benign

16696937

c.2853G>A

p.Gln951Gln

g.51949674C>T

n.a

exon12

TM5/TM6

Silent

n.a

n.a

Likely benign

21796144

c.2853_2856del

p.Gln951Hisfs*15

g.51949671_51949674del

n.a

exon12

TM5/TM6

Frameshift

n.a

n.a

Pathogenic

27022412

c.2848G>T

p.Val950Phe

g.51949679C>A

n.a

exon12

TM5/TM6

Missense

/

Probably damaging (0.996)

Likely pathogenic

27022412

c.2842G>T

p.Gly948Cys

g.51949685C>A

rs756253215

exon12

TM5/TM6

Missense

/

Possibly damaging(0.596)

Likely pathogenic

30702195

c.2835C>T

p.Ile945Ile

g.51949692G>A

rs761169879

exon12

TM5/TM6

Silent

n.a

n.a

Likely benign

35220961

c.2828G>A

p.Gly943Asp

g.51949699C>T

rs779323689

exon12

TM5/TM6

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

9829905

c.2827G>A

p.Gly943Ser

g.51949700C>T

rs28942076

exon12

TM5/TM6

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

26782526,27022412

c.2817G>C

p.Trp939Cys

g.51949710C>G

rs1057517310

exon12

TM5

Missense

/

Probably damaging (1.000)

Likely pathogenic

30655162

c.2815_2816insA

p.Trp939*

g.51949711_51949712insT

n.a

exon12

TM5

Frameshift

n.a

n.a

Pathogenic

16402213

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