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.2111C>T

p.Thr704Ile

g.51960158G>A

n.a

exon7

TM2

Missense

Tolerated (0.075)

Probably damaging (0.988)

Likely pathogenic

31172689

c.2097_2099delCTT

p.Phe700del

g.51960170_51960172del

n.a

exon7

TM2

Inframe deletion

n.a

n.a

Likely pathogenic

14986826

c.2078C>G

p.Ser693Cys

g.51960191G>C

rs1212479289

exon7

TM2

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

9772425

c.2077T>C

p.Ser693Pro

g.51960192A>G

n.a

exon7

TM2

Missense

/

Probably damaging (1.000)

Likely pathogenic

18034201

c.2075T>C

p.Leu692Pro

g.51960194A>G

n.a

exon7

TM2

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

26253413

c.2057A>C

p.His686Pro

g.51960212T>G

n.a

exon7

TM1/TM2

Missense

Tolerated (0.183)

Benign (0.323)

Likely pathogenic

35220961

c.2043delC

p.Ser681Serfs*15

g.51960226del

n.a

exon7

TM1/TM2

Frameshift

n.a

n.a

Pathogenic

27022412

c.2038C>T

p.Gln680*

g.51960231G>A

rs1555291848

exon7

TM1/TM2

Nonsense

n.a

n.a

Pathogenic

26782526,27022412

c.2012dup

p.Met671Ilefs*84

g.51960257dup

n.a

exon7

TM1/TM2

Frameshift

n.a

n.a

Pathogenic

35220961

c.2009A>G

p.Tyr670Cys

g.51960260T>C

rs767305042

exon7

TM1/TM2

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

35220961

c.2009_2012dup

p.Met671Ilefs*85

g.51960257_51960260dup

rs1555291870

exon7

TM1/TM2

Frameshift

n.a

n.a

Pathogenic

27398169

c.2008_2013del

p.670_671delYM

g.51960256_51960261del

n.a

exon7

TM1/TM2

Inframe deletion

n.a

n.a

Likely pathogenic

27982432

c.2004G>C

p.Met668Ile

g.51960265C>G

n.a

exon7

TM1/TM2

Missense

/

Probably damaging (0.996)

Likely pathogenic

30702195

c.1994T>G

p.Met665Arg

g.51960275A>C

rs182653713

exon7

TM1

Missense

/

Probably damaging (0.978)

Likely pathogenic

27398169

c.1988C>G

p.Pro663Arg

g.51960281G>C

n.a

exon7

TM1

Missense

Damaging (0.010)

Possibly damaging (0.947)

Likely pathogenic

35220961

c.1976T>A

p.Val659Glu

g.51960293A>T

rs1958645176

exon7

TM1

Missense

/

Probably damaging (0.995)

Likely pathogenic

L71236428 (Embase)

c.1968C>A

p.Cys656*

g.51960301G>T

n.a

exon7

TM1

Nonsense

n.a

n.a

Pathogenic

14966923

c.1950G>A

p.Trp650*

g.51960319C>T

n.a

exon7

TM1

Nonsense

n.a

n.a

Pathogenic

11405812

c.1947-16T>A

n.a

g.51960338A>T

n.a

intron6

TM1

/

n.a

n.a

Uncertain significance

35385937

c.1947-2A>C

n.a

g.51960324T>C

n.a

intron6

TM1

Splicing

n.a

n.a

Pathogenic

35220961

c.1947_1959del

p.Gln649Hisfs*16

g.51960310_51960322del

n.a

exon7

TM1

Frameshift

n.a

n.a

Pathogenic

35220961

c.1946+1G>A

n.a

g.51961836C>T

n.a

intron6

TM1

Splicing

n.a

n.a

Pathogenic

26782526

c.1946+5G>A

n.a

g.51961832C>T

n.a

intron6

TM1

Splicing

n.a

n.a

Uncertain significance

27022412

c.1946+9A>G

n.a

g.51961828T>C

n.a

intron6

TM1

Splicing

n.a

n.a

Uncertain significance

18034201

c.1932G>A

p.Lys644Lys

g.51961851C>T

n.a

exon6

TM1

Silent

n.a

n.a

Likely benign

11405812

c.1925A>G

p.Asp642Gly

g.51961858T>C

n.a

exon6

TM1

Missense

/

Probably damaging (0.996)

Likely pathogenic

27022412

c.1910delA

p.Asn637Thrfs*11

g.51961873del

n.a

exon6

TM1

Frameshift

n.a

n.a

Pathogenic

30702195

c.1908dupC

p.Asn637Glnfs*118

g.51961875dup

n.a

/

TM1

Frameshift

n.a

n.a

Pathogenic

35446965

c.1901G>A

p.Arg634Lys

g.51961882C>T

rs373585491

exon6

TM1

Missense

Tolerated (0.909)

Benign (0.001)

Uncertain significance

35220961

c.1900A>G

p.Arg634Gly

g.51961883T>C

n.a

exon6

TM1

Missense

Damaging (0.011)

Benign (0.038)

Likely pathogenic

35220961

c.1875T>A

p.Ile625Ile

g.51961908A>T

rs756958229

exon6

MBD6/TM1

Silent/Splicing

n.a

n.a

Likely benign

30884209,33719328

c.1872_1875dup

p.Gly626Asnfs*130

g.51961908_51961911dup

n.a

exon6

MBD6/TM1

Frameshift

n.a

n.a

Pathogenic

21796144

c.1870-2A>G

n.a

g.51961915T>C

n.a

intron5

MBD6/TM1

Splicing

n.a

n.a

Pathogenic

27022412

c.1869+9_+17del

n.a

g.51964855_51964863del

n.a

intron5

MBD6/TM1

/

n.a

n.a

Likely benign

35220961

c.1857C>A

p.Ile619Ile

g.51964884G>T

rs765501756

exon5

MBD6

Silent

n.a

n.a

Likely benign

L2007097869 (Embase)

c.1847G>A

p.Arg616Gln

g.51964894C>T

rs752850609

exon5

MBD6

Missense

Damaging (0.001)

Probably damaging (1.000)

Pathogenic

18034201

c.1846C>T

p.Arg616Trp

g.51964895G>A

rs374172791

exon5

MBD6

Missense

Damaging (0.001)

Probably damaging (1.000)

Pathogenic

27022412

c.1839C>T

p.Ile613Ile

g.51964902G>A

rs370476756

exon5

MBD6

Silent

n.a

n.a

Likely benign

21796144

c.1831G>A

p.Glu611Lys

g.51964910C>T

n.a

exon5

MBD6

Missense

/

Probably damaging (0.998)

Likely pathogenic

21219664

c.1820dupA

p.Phe608Valfs*2

g.51964921dup

rs1057516940

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

15524314

c.1817T>G

p.Val606Gly

g.51964924A>C

rs1173050016

exon5

MBD6

Missense

Damaging (0.005)

Probably damaging (0.979)

Likely pathogenic

23235335

c.1803del

p.Ser602Alafs*46

g.51964938del

n.a

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

14986826

c.1799_1800del

p.Ala600Aspfs*7

g.51964941_51964942del

n.a

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

35220961

c.1789G>A

p.Val597Ile

g.51964952C>T

rs760501309

exon5

MBD6

Missense

/

Probably damaging(0.999)

Likely pathogenic

35315034

c.1782T>A

p.Tyr594*

g.51964959A>T

n.a

exon5

MBD6

Nonsense

n.a

n.a

Pathogenic

27022412

c.1774A>T

p.Ile592Phe

g.51964967T>A

n.a

exon5

MBD6

Missense

Damaging (0.001)

Probably damaging (0.988)

Likely pathogenic

30702195

c.1772G>A

p.Gly591Asp

g.51964969C>T

rs797045402

exon5

MBD6

Missense

Damaging (0.000)

Probably damaging (1.000)

Pathogenic

35220961

c.1760C>T

p.Thr587Met

g.51964981G>A

rs757716093

exon5

MBD6

Missense

/

Benign(0.001)

Likely benign

27022412

c.1757T>A

p.Leu586His

g.51964984A>T

n.a

exon5

MBD6

Missense

/

Probably damaging (1.000)

Likely pathogenic

L2007097869 (Embase)

c.1745_1746delTA

p.Ile582Argfs*25

g.51964995_51964996del

rs753962912

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

27398169

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