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.2356-296A>G

n.a

g.51957903T>C

rs752570

intron8

/

/

n.a

n.a

Uncertain significance

16088907

c.2356-217G>A

n.a

g.51957824C>T

rs752569

intron8

/

/

n.a

n.a

Uncertain significance

16088907

c.2356-150A>G

n.a

g.51957757T>C

rs74902005

intron8

/

/

n.a

n.a

Uncertain significance

16088907

c.2356-2A>G

n.a

g.51957609T>C

n.a

intron8

TM4/A-domain

Splicing

n.a

n.a

Pathogenic

16402213

c.2356-1G>C

n.a

g.51957608C>G

rs1555290925

intron8

TM4/A-domain

Splicing

n.a

n.a

Pathogenic

27022412

c.2355+4A>G

n.a

g.51958307T>C

rs776572343

intron8

TM4/A-domain

Splicing

n.a

n.a

Uncertain significance

18373411

c.2355+13T>G

n.a

g.51958298A>C

rs139211339

intron8

/

/

n.a

n.a

Uncertain significance

11216666

c.2355+26A>G

n.a

g.51958285T>C

rs191148639

intron8

/

/

n.a

n.a

Uncertain significance

23843956

c.2355+27G>A

n.a

g.51958284C>T

rs182526085

intron8

/

/

n.a

n.a

Uncertain significance

23843956

c.2355G>A

p.Lys785Lys

g.51958311C>T

rs1958487080

exon8

TM4/A-domain

Silent/Splicing

n.a

n.a

Pathogenic

36777461

c.2354A>G

p.Lys785Arg

g.51958312T>C

rs1555291085

exon8

TM4/A-domain

Missense

/

Probably damaging (0.986)

Likely pathogenic

23518715

c.2341G>A

p.Glu781Lys

g.51958325C>T

rs1225673619

exon8

TM4

Missense

/

Probably damaging (1.000)

Likely pathogenic

27022412

c.2337G>A

p.Trp779*

g.51958329C>T

rs137853282

exon8

TM4

Nonsense

n.a

n.a

Pathogenic

11690702

c.2337G>C

p.Trp779Cys

g.51958329C>G

rs137853282

exon8

TM4

Missense

/

Probably damaging (1.000)

Likely pathogenic

22677543

c.2336G>A

p.Trp779*

g.51958330C>T

rs137853283

exon8

TM4

Nonsense

n.a

n.a

Pathogenic

8938442

c.2335T>C/A

p.Trp779Arg

g.51958331A>G/T

rs751798708

exon8

TM4

Missense

/

Probably damaging (1.000)

Likely pathogenic

23885147

c.2335T>G

p.Trp779Gly

g.51958331A>C

rs751798708

exon8

TM4

Missense

/

Probably damaging (1.000)

Likely pathogenic

23159873,22763723

c.2333G>A

p.Arg778Gln

g.51958333C>T

rs28942074

exon8

TM4

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

8782057

c.2333G>C

p.Arg778Pro

g.51958333C>G

rs28942074

exon8

TM4

Missense

/

Probably damaging (1.000)

Likely pathogenic

30232804

c.2333G>T

p.Arg778Leu

g.51958333C>A

rs28942074

exon8

TM4

Missense

Damaging (0.000)

Probably damaging (1.000)

Pathogenic

7626145,7762553

c.2332C>G

p.Arg778Gly

g.51958334G>C

rs137853284

exon8

TM4

Missense

/

Probably damaging (1.000)

Likely pathogenic

8533760

c.2332C>T

p.Arg778Trp

g.51958334G>A

rs137853284

exon8

TM4

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

9311736,9671269

c.2328G>A

p.Leu776Leu

g.51958338C>T

rs756580388

exon8

TM4

Silent

n.a

n.a

Likely benign

20465995

c.2327T>C

p.Leu776Pro

g.51958339A>G

n.a

exon8

TM4

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

16283883

c.2326C>G

p.Leu776Val

g.51958340G>C

rs1217463955

exon8

TM4

Missense

/

Probably damaging (1.000)

Pathogenic

7626145

c.2324C>T

p.Ala775Val

g.51958342G>A

n.a

exon8

TM4

Missense

/

Probably damaging (0.986)

Likely pathogenic

L631725912 (Embase)

c.2320_2321insTTGCCCAGGGCA

p.Leu776Glnfs*695

g.51958345_51958346insTGCCCTGGGCAA

n.a

exon8

TM4

Frameshift

n.a

n.a

Pathogenic

35222532

c.2317T>C

p.Phe773Leu

g.51958349A>G

n.a

exon8

TM4

Missense

/

Probably damaging (1.000)

Likely pathogenic

30232804

c.2315_2323del

p.772_774del

g.51958343_51958351del

n.a

exon8

TM4

Inframe deletion

n.a

n.a

Likely pathogenic

23885147

c.2312T>A

p.Phe771Tyr

g.51958354A>T

n.a

exon8

TM4

Missense

/

Probably damaging (1.000)

Likely pathogenic

L619160334 (Embase)

c.2310C>G

p.Leu770Leu

g.51958356G>C

rs398123136

exon8

TM4

Silent

n.a

n.a

Likely benign

11708998

c.2308C>T

p.Leu770Phe

g.51958358G>A

n.a

exon8

TM4

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

27398169,27022412

c.2308_2316dup

p.770_772dup

g.51958349_51958350insCACAAAGAG

n.a

exon8

TM4

Inframe insertion

n.a

n.a

Likely pathogenic

27022412

c.2307G>T

p.Met769Ile

g.51958359C>A

n.a

exon8

TM4

Missense

/

Probably damaging (1.000)

Likely pathogenic

10790207

c.2306T>C

p.Met769Thr

g.51958360A>G

rs772595172

exon8

TM4

Missense

/

Probably damaging (1.000)

Likely pathogenic

30884209

c.2306T>G

p.Met769Arg

g.51958360A>C

rs772595172

exon8

TM4

Missense

/

Probably damaging (1.000)

Likely pathogenic

10502777

c.2305A>C

p.Met769Leu

g.51958361T>G

rs193922103

exon8

TM4

Missense

/

Probably damaging (1.000)

Likely pathogenic

17272994

c.2305A>G

p.Met769Val

g.51958361T>C

rs193922103

exon8

TM4

Missense

Damaging (0.000)

Probably damaging (1.000)

Pathogenic

7626145

c.2304dupC

p.Met769Hisfs*26

g.51958362dup

rs137853287

exon8

TM4

Frameshift

n.a

n.a

Pathogenic

7762553,7626145

c.2304delC

p.Met769Cysfs*38

g.51958362del

rs137853287

exon8

TM4

Frameshift

n.a

n.a

Pathogenic

9554743

c.2303C>A

p.Pro768His

g.51958363G>T

rs1057516844

exon8

TM4

Missense

/

Probably damaging (1.000)

Likely pathogenic

12544487

c.2303C>T

p.Pro768Leu

g.51958363G>A

rs1057516844

exon8

TM4

Missense

/

Probably damaging (1.000)

Likely pathogenic

17300695

c.2302C>T

p.Pro768Ser

g.51958364G>A

n.a

exon8

TM4

Missense

/

Probably damaging (1.000)

Likely pathogenic

17264425

c.2300C>T

p.Pro767Leu

g.51958366G>A

rs776668666

exon8

TM4

Missense

/

Probably damaging (0.999)

Likely pathogenic

25497208

c.2299C>T

p.Pro767Ser

g.51958367G>A

n.a

exon8

TM4

Missense

/

Probably damaging (1.000)

Likely pathogenic

21034864

c.2299_2300insG

p.Pro767Argfs*28

g.51958366_51958367insC

n.a

exon8

TM4

Frameshift

n.a

n.a

Pathogenic

9801873

c.2297C>G

p.Thr766Arg

g.51958369G>C

rs121907997

exon8

TM4

Missense

/

Probably damaging (1.000)

Likely pathogenic

15557537

c.2297C>T

p.Thr766Met

g.51958369G>A

rs121907997

exon8

TM4

Missense

/

Probably damaging (1.000)

Likely pathogenic

16088907

c.2296dupA

p.Thr766Asnfs*29

g.51958370dup

n.a

exon8

TM4

Frameshift

n.a

n.a

Pathogenic

15024742

c.2294A>G

p.Asp765Gly

g.51958372T>C

rs1555291147

exon8

TM4

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

14986826

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