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.2200G>T

p.Val734Phe

g.51958466C>A

rs781325777

exon8

TM3

Missense

/

Probably damaging (1.000)

Pathogenic

21645214,23518715

c.2199C>A

p.Ile733Ile

g.51958467G>T

rs575138257

exon8

TM3

Silent

n.a

n.a

Likely benign

9887381

c.2196C>T

p.Leu732Leu

g.51958470G>A

rs201213995

exon8

TM3

Silent

n.a

n.a

Likely benign

31059521

c.2195T>A

p.Leu732His

g.51958471A>T

rs775151065

exon8

TM3

Missense

/

Probably damaging (1.000)

Likely pathogenic

23235335

c.2195T>C

p.Leu732Pro

g.51958471A>G

rs775151065

exon8

TM3

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

23235335

c.2192T>A

p.Val731Glu

g.51958474A>T

n.a

exon8

TM3

Missense

/

Probably damaging (1.000)

Likely pathogenic

27022412

c.2191G>T

p.Val731Leu

g.51958475C>A

rs762746959

exon8

TM3

Missense

/

Probably damaging (1.000)

Likely pathogenic

30097039

c.2189A>G

p.Asp730Gly

g.51958477T>C

n.a

exon8

TM3

Missense

/

Probably damaging (1.000)

Likely pathogenic

23551039

c.2187G>A

p.Met729Ile

g.51958479C>T

n.a

exon8

TM3

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

35220961

c.2185A>G

p.Met729Val

g.51958481T>C

rs773447981

exon8

TM3

Missense

Damaging (0.000)

Probably damaging (1.000)

Pathogenic

17587212

c.2183A>G

p.Asn728Ser

g.51958483T>C

rs760713333

exon8

TM3

Missense

/

Probably damaging (1.000)

Likely pathogenic

26253413

c.2183A>T

p.Asn728Ile

g.51958483T>A

rs760713333

exon8

TM3

Missense

/

Probably damaging (1.000)

Likely pathogenic

31172689

c.2180C>A

p.Ala727Asp

g.51958486G>T

n.a

exon8

TM2/TM3

Missense

/

Probably damaging (1.000)

Likely pathogenic

23518715

c.2179G>C

p.Ala727Pro

g.51958487C>G

n.a

exon8

TM2/TM3

Missense

/

Probably damaging (1.000)

Likely pathogenic

30120852

c.2175G>A

p.Arg725Arg

g.51958491C>T

rs61733684

exon8

TM2/TM3

Silent

n.a

n.a

Likely benign

9671269

c.2174G>C

p.Arg725Thr

g.51958492C>G

rs115227204

exon8

TM2/TM3

Missense

/

Possibly damaging(0.760)

Likely pathogenic

30120852

c.2170_2182del

p.His724Thrfs*34

g.51958484_51958496del

n.a

exon8

TM2/TM3

Frameshift

n.a

n.a

Pathogenic

35782615

c.2169A>C

p.Arg723Ser

g.51958497T>G

n.a

exon8

TM2/TM3

Missense

/

Benign(0.212)

Uncertain significance

35782615

c.2168G>C

p.Arg723Thr

g.51958498C>G

n.a

exon8

TM2/TM3

Missense

/

Possibly damaging(0.749)

Likely pathogenic

30120852

c.2167A>G

p.Arg723Gly

g.51958499T>C

n.a

exon8

TM2/TM3

Missense

/

Possibly damaging(0.749)

Likely pathogenic

11405812

c.2166G>A

p.Leu722Leu

g.51958500C>T

rs587783302

exon8

TM2/TM3

Silent

n.a

n.a

Likely benign

10721669

c.2165dupT

p.Arg723Glufs*32

g.51958501dup

rs768729972

exon8

TM2/TM3

Frameshift

n.a

n.a

Pathogenic

9199563

c.2165T>A

p.Leu722Gln

g.51958501A>T

n.a

exon8

TM2/TM3

Missense

/

Probably damaging (1.000)

Likely pathogenic

26410678

c.2164C>G

p.Leu722Val

g.51958502G>C

n.a

exon8

TM2/TM3

Missense

/

Probably damaging (0.965)

Likely pathogenic

L2004138265 (Embase)

c.2164_2165del

p.Leu722Glufs*32

g.51958501_51958502del

n.a

exon8

TM2/TM3

Frameshift

n.a

n.a

Pathogenic

20082719

c.2161T>C

p.Ser721Pro

g.51958505A>G

rs765667658

exon8

TM2/TM3

Missense

/

Probably damaging (0.998)

Likely pathogenic

12325021

c.2160delA

p.Lys720Asnfs*3

g.51958506del

n.a

exon8

TM2/TM3

Frameshift

n.a

n.a

Pathogenic

7626145,7762553

c.2157C>A

p.Tyr719*

g.51958509G>T

rs1057516380

exon8

TM2/TM3

Nonsense

n.a

n.a

Pathogenic

27982432,27022412

c.2156A>G

p.Tyr719Cys

g.51958510T>C

rs1003203457

exon8

TM2/TM3

Missense

/

Probably damaging (1.000)

Likely pathogenic

27022412

c.2153C>A

p.Ala718Asp

g.51958513G>T

n.a

exon8

TM2/TM3

Missense

/

Probably damaging (1.000)

Likely pathogenic

L2015092230 (Embase)

c.2149C>T

p.Gln717*

g.51958517G>A

rs1085307057

exon8

TM2/TM3

Nonsense

n.a

n.a

Pathogenic

21645214

c.2145C>A

p.Tyr715*

g.51958521G>T

rs751202110

exon8

TM2/TM3

Nonsense

n.a

n.a

Pathogenic

17264425,17230654

c.2145C>T

p.Tyr715Tyr

g.51958521G>A

rs751202110

exon8

TM2/TM3

Silent

n.a

n.a

Likely benign

16133174

c.2143T>C

p.Tyr715His

g.51958523A>G

rs1555291272

exon8

TM2/TM3

Missense

/

Probably damaging (1.000)

Likely pathogenic

17272994

c.2142C>G

p.Phe714Leu

g.51958524G>C

n.a

exon8

TM2/TM3

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

35220961

c.2141T>A

p.Phe714Tyr

g.51958525A>T

n.a

exon8

TM2/TM3

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

35220961

c.2139C>G

p.Tyr713*

g.51958527G>C

n.a

exon8

TM2/TM3

Nonsense

n.a

n.a

Pathogenic

35220961,35222532

c.2138A>G

p.Tyr713Cys

g.51958528T>C

rs756883878

exon8

TM2/TM3

Missense

/

Probably damaging (1.000)

Likely pathogenic

8931691

c.2136G>A

p.Trp712*

g.51958530C>T

rs1462815352

exon8

TM2/TM3

Nonsense

n.a

n.a

Pathogenic

24094725

c.2133delG

p.Trp712Glyfs*11

g.51958533del

n.a

exon8

TM2/TM3

Frameshift

n.a

n.a

Pathogenic

30232804

c.2132G>A

p.Gly711Glu

g.51958534C>T

n.a

exon8

TM2/TM3

Missense

/

Probably damaging (1.000)

Likely pathogenic

8931691

c.2131G>A

p.Gly711Arg

g.51958535C>T

rs1394999756

exon8

TM2/TM3

Missense

/

Probably damaging (1.000)

Likely pathogenic

10544227

c.2131G>T

p.Gly711Trp

g.51958535C>A

rs1394999756

exon8

TM2/TM3

Missense

/

Probably damaging (1.000)

Likely pathogenic

10502777

c.2129G>C

p.Gly710Ala

g.51958537C>G

rs1555291285

exon8

TM2/TM3

Missense

/

Probably damaging (1.000)

Likely pathogenic

9887381

c.2129G>T

p.Gly710Val

g.51958537C>A

rs1555291285

exon8

TM2/TM3

Missense

/

Probably damaging (1.000)

Likely pathogenic

16088907

c.2128G>A

p.Gly710Ser

g.51958538C>T

rs137853285

exon8

TM2/TM3

Missense

Damaging (0.000)

Probably damaging (1.000)

Pathogenic

8938442

c.2128G>C

p.Gly710Arg

g.51958538C>G

rs137853285

exon8

TM2/TM3

Missense

/

Probably damaging (1.000)

Likely pathogenic

8931691

c.2128G>T

p.Gly710Cys

g.51958538C>A

rs137853285

exon8

TM2/TM3

Missense

/

Probably damaging (1.000)

Likely pathogenic

27982432

c.2123T>C

p.Leu708Pro

g.51958543A>G

rs121908000

exon8

TM2

Missense

/

Possibly damaging(0.740)

Likely pathogenic

9311736

c.2122-23C>G

n.a

g.51958567G>C

rs749787894

intron7

/

/

n.a

n.a

Uncertain significance

Embase

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