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.2122-8T>C

n.a

g.51958552A>G

rs193922102

intron7

TM2

Splicing

n.a

n.a

Uncertain significance

33640437

c.2122-8T>G

n.a

g.51958552A>C

rs193922102

intron7

TM2

Splicing

n.a

n.a

Pathogenic

12325021

c.2122-6T>C

n.a

g.51958550A>G

n.a

intron7

TM2

Splicing

n.a

n.a

Uncertain significance

25327413

c.2122-3dupC

n.a

g.51958547dup

n.a

intron7

TM2

Splicing

n.a

n.a

Uncertain significance

L2004138265 (Embase)

c.2122-1G>C

n.a

g.51958545C>G

rs1319653818

intron7

TM2

Splicing

n.a

n.a

Pathogenic

30702195

c.2122-1G>T

n.a

g.51958545C>A

rs1319653818

intron7

TM2

Splicing

n.a

n.a

Pathogenic

35220961

c.2122-3C>T

n.a

g.51958547G>A

n.a

intron7

TM2

Splicing

n.a

n.a

Uncertain significance

36096368

c.2121+1G>A

n.a

g.51960147C>T

rs751235573

intron7

TM2

Splicing

n.a

n.a

Pathogenic

30097039

c.2121+1G>T

n.a

g.51960147C>A

rs751235573

intron7

TM2

Splicing

n.a

n.a

Pathogenic

23518715

c.2121+3A>G

n.a

g.51960145T>C

rs1248002612

intron7

TM2

Splicing

n.a

n.a

Likely pathogenic

16283883

c.2121+3A>T

n.a

g.51960145T>A

rs1248002612

intron7

TM2

Splicing

n.a

n.a

Likely pathogenic

21796144

c.2121+127C>A

n.a

g.51960021G>T

rs78021873

intron7

/

/

n.a

n.a

Uncertain significance

17823867

c.2121G>A

p.Gln707Gln

g.51960148C>T

n.a

exon7

TM2

Silent/Splicing

n.a

n.a

Pathogenic

36096368

c.2120A>G

p.Gln707Arg

g.51960149T>C

n.a

exon7

TM2

Missense

Damaging (0.001)

Probably damaging (0.988)

Likely pathogenic

21796144

c.2116_2117delGT

p.Val706Profs*48

g.51960152_51960153del

n.a

exon7

TM2

Frameshift

n.a

n.a

Pathogenic

15811015

c.2112del

p.Phe705Leufs*18

g.51960157del

n.a

exon7

TM2

Frameshift

n.a

n.a

Pathogenic

36096368

c.2111C>T

p.Thr704Ile

g.51960158G>A

n.a

exon7

TM2

Missense

Tolerated (0.075)

Probably damaging (0.988)

Likely pathogenic

31172689

c.2110_2111delinsTT

p.Thr704Phe

g.51960158_51960159delinsAA

n.a

exon7

TM2

Missense

/

Probably damaging (1.000)

Likely pathogenic

23518715

c.2108G>A

p.Cys703Tyr

g.51960161C>T

rs767218895

exon7

TM2

Missense

/

Probably damaging (0.999)

Likely pathogenic

16088907

c.2107T>C

p.Cys703Arg

g.51960162A>G

n.a

exon7

TM2

Missense

/

Probably damaging (0.999)

Likely pathogenic

L2004138265 (Embase)

c.2101_2102delAT

p.Ile701Leufs*53

g.51960167_51960168del

n.a

exon7

TM2

Frameshift

n.a

n.a

Pathogenic

11216666

c.2097_2099delCTT

p.Phe700del

g.51960170_51960172del

n.a

exon7

TM2

Inframe deletion

n.a

n.a

Likely pathogenic

14986826

c.2078C>A

p.Ser693Tyr

g.51960191G>T

rs1212479289

exon7

TM2

Missense

/

Probably damaging (1.000)

Likely pathogenic

17272994

c.2078C>G

p.Ser693Cys

g.51960191G>C

rs1212479289

exon7

TM2

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

9772425

c.2078C>T

p.Ser693Phe

g.51960191G>A

rs1212479289

exon7

TM2

Missense

/

Probably damaging (1.000)

Likely pathogenic

Embase

c.2078delC

p.Ser693Serfs*2

g.51960191del

n.a

exon7

TM2

Frameshift

n.a

n.a

Pathogenic

L2004138265 (Embase)

c.2077T>C

p.Ser693Pro

g.51960192A>G

n.a

exon7

TM2

Missense

/

Probably damaging (1.000)

Likely pathogenic

18034201

c.2077T>G

p.Ser693Ala

g.51960192A>C

n.a

exon7

TM2

Missense

/

Probably damaging (1.000)

Likely pathogenic

L629485041 (Embase)

c.2075T>C

p.Leu692Pro

g.51960194A>G

n.a

exon7

TM2

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

26253413

c.2072G>T

p.Gly691Val

g.51960197C>A

rs1555291801

exon7

TM2

Missense

/

Probably damaging (1.000)

Likely pathogenic

25497208

c.2071G>A

p.Gly691Arg

g.51960198C>T

rs121908001

exon7

TM2

Missense

/

Probably damaging (1.000)

Likely pathogenic

9671269

c.2071G>C

p.Gly691Arg

g.51960198C>G

rs121908001

exon7

TM2

Missense

/

Probably damaging (1.000)

Likely pathogenic

23551039

c.2069C>T

p.Pro690Leu

g.51960200G>A

rs1555291809

exon7

TM2

Missense

/

Probably damaging (1.000)

Likely pathogenic

15952988,16402213

c.2063T>G

p.Ile688Ser

g.51960206A>C

n.a

exon7

TM1/TM2

Missense

/

Probably damaging (1.000)

Likely pathogenic

29930488

c.2060_2062delACA

p.Asn687del

g.51960207_51960209del

rs770107276

exon7

TM1/TM2

Inframe deletion

n.a

n.a

Likely pathogenic

24094725

c.2057A>C

p.His686Pro

g.51960212T>G

n.a

exon7

TM1/TM2

Missense

Tolerated (0.183)

Benign (0.323)

Likely pathogenic

35220961

c.2049_2053delinsTTTC

p.683_684delinsVal

g.51960216_51960220delinsGAAA

n.a

exon7

TM1/TM2

Inframe deletion/insertion

n.a

n.a

Likely pathogenic

21682854

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

20491539

c.2035delC

p.His679Thrfs*17

g.51960234del

rs786204764

exon7

TM1/TM2

Frameshift

n.a

n.a

Likely Pathogenic

17949296

c.2029dupG

p.Glu677Glyfs*78

g.51960240dup

rs1315583751

exon7

TM1/TM2

Frameshift

n.a

n.a

Pathogenic

20818655

c.2029G>A

p.Glu677Lys

g.51960240C>T

rs2277447

exon7

TM1/TM2

Missense

/

Benign(0.002)

Uncertain significance

28515472

c.2027A>T

p.Asn676Ile

g.51960242T>A

rs774867425

exon7

TM1/TM2

Missense

/

Benign(0.025)

Uncertain significance

17272994

c.2018_2030del

p.Ile673Serfs*19

g.51960239_51960251del

n.a

exon7

TM1/TM2

Frameshift

n.a

n.a

Pathogenic

23982005

c.2012dupT

p.Met671Ilefs*84

g.51960257dup

n.a

exon7

TM1/TM2

Frameshift

n.a

n.a

Pathogenic

35220961

c.2010_2016delTATGCTG

p.Tyr670*

g.51960253_51960259del

n.a

exon7

TM1/TM2

Frameshift

n.a

n.a

Pathogenic

7726170

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_2012dupATAT

p.Met671Ilefs*85

g.51960257_51960260dup

rs1555291870

exon7

TM1/TM2

Frameshift

n.a

n.a

Pathogenic

27398169

c.2009_2015delATATGCT

p.Tyr670*

g.51960254_51960260del

rs779904655

exon7

TM1/TM2

Frameshift

n.a

n.a

Pathogenic

8298639

c.2008_2013delTATATG

p.670_671delYM

g.51960256_51960261del

n.a

exon7

TM1/TM2

Inframe deletion

n.a

n.a

Likely pathogenic

10447265

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