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.1718_1721dup

p.Cys575Aspfs*34

g.51965020_51965023dup

n.a

exon5

MBD6

Frameshift

n.a

n.a

Pathogenic

15524314

c.1708-53A>C

n.a

g.51965086T>G

n.a

intron4

MBD6

/

n.a

n.a

Benign

L2007097869 (Embase)

c.1708-34G>A

n.a

g.51965067C>T

rs780389157

intron4

MBD6

/

n.a

n.a

Likely benign

35385937

c.1708-5T>C

n.a

g.51965038A>G

rs770829226

intron4

MBD6

Splicing

n.a

n.a

Likely pathogenic

14966923

c.1708-5T>G

n.a

g.51965038A>C

rs770829226

intron4

MBD6

Splicing

n.a

n.a

Likely pathogenic

11405812

c.1708-1G>A

n.a

g.51965034C>T

rs137853280

intron4

MBD6

Splicing

n.a

n.a

Pathogenic

25089800

c.1708-1G>C

n.a

g.51965034C>G

rs137853280

intron4

MBD6

Splicing

n.a

n.a

Pathogenic

9829905

c.1707+5G>A

n.a

g.51968439C>T

n.a

intron4

MBD6

Splicing

n.a

n.a

Uncertain significance

29181760

c.1697T>A

p.Ile566Asn

g.51968454A>T

n.a

exon4

MBD6

Missense

Damaging (0.002)

Possibly damaging (0.772)

Likely pathogenic

35220961,31172689

c.1682delG

p.Gly561Alafs*8

g.51968469del

n.a

exon4

MBD5/MBD6

Frameshift

n.a

n.a

Pathogenic

35444691

c.1649dupG

p.Glu552*

g.51968502dup

n.a

exon4

MBD5

Frameshift

n.a

n.a

Pathogenic

35385937

c.1649del

p.Gly550Valfs*19

g.51968502del

n.a

exon4

MBD5

Frameshift

n.a

n.a

Pathogenic

35220961

c.1648_1654del

p.Gly550Argfs*17

g.51968497_51968503del

rs1951680623

exon4

MBD5

Frameshift

n.a

n.a

Pathogenic

15524314

c.1639C>T

p.Gln547*

g.51968512G>A

rs996419100

exon4

MBD5

Nonsense

n.a

n.a

Pathogenic

27022412

c.1620C>T

p.Leu540Leu

g.51968531G>A

rs145798966

exon4

MBD5

Silent/Splicing

n.a

n.a

Likely benign

27022412,33719328

c.1604A>G

p.Glu535Gly

g.51968547T>C

rs756795986

exon4

MBD5

Missense

/

Benign(0.003)

Uncertain significance

35446965

c.1604_1605del

p.Glu535Glyfs*17

g.51968546_51968547del

n.a

exon4

MBD5

Frameshift

n.a

n.a

Pathogenic

35220961

c.1595A>G

p.Tyr532Cys

g.51968556T>C

rs375071383

exon4

MBD5

Missense

Damaging (0.000)

Probably damaging (1.000)

Likely pathogenic

35220961

c.1586A>G

p.Glu529Gly

g.51968565T>C

n.a

exon4

MBD5

Missense

Damaging (0.001)

Probably damaging (1.000)

Likely pathogenic

33763395,35220961

c.1571T>C

p.Met524Thr

g.51968580A>G

n.a

exon4

MBD5

Missense

Damaging (0.012)

Probably damaging (0.976)

Likely pathogenic

35220961,33763390

c.1554C>T

p.Ser518Ser

g.51968597G>A

rs551051945

exon4

MBD5

Silent/Splicing

n.a

n.a

Likely pathogenic

35220961,33719328

c.1552_1553delTC

p.Ser518Argfs*15

g.51968598_51968599del

n.a

exon4

MBD5

Frameshift

n.a

n.a

Pathogenic

27022412

c.1545delT

p.Val516Phefs*8

g.51968606del

n.a

exon4

MBD5

Frameshift

n.a

n.a

Pathogenic

27022412

c.1544-53A>C

n.a

g.51968660T>G

rs2147363

intron3

MBD5

n.a

n.a

n.a

Benign

25089800

c.1544G>T

p.Gly515Val

g.51968607C>A

n.a

exon4

MBD5

Missense

/

Probably damaging (1.000)

Likely pathogenic

16402213

c.1543+1G>T

n.a

g.51970491C>A

rs1360279134

intron3

MBD5

Splicing

n.a

n.a

Pathogenic

18034201

c.1543+4A>G

n.a

g.51970488T>C

n.a

intron3

MBD5

Splicing

n.a

n.a

Pathogenic

27022412

c.1543+13C>T

n.a

g.51970479G>A

rs200171850

/

MBD5

n.a

n.a

n.a

Uncertain significance

35446965

c.1543+40G>A

n.a

g.51970452C>T

rs747219377

intron3

MBD5

n.a

n.a

n.a

Uncertain significance

35470480

c.1531C>T

p.Gln511*

g.51970504G>A

rs1449610384

exon3

MBD5

Nonsense

n.a

n.a

Pathogenic

16402213

c.1529T>C

p.Leu510Pro

g.51970506A>G

n.a

exon3

MBD5

Missense

Damaging (0.005)

Probably damaging (1.000)

Likely pathogenic

35220961

c.1529T>G

p.Leu510Arg

g.51970506A>C

n.a

exon3

MBD5

Missense

Damaging (0.002)

Probably damaging (1.000)

Likely pathogenic

35220961

c.1520_1523delAAAG

p.Glu507Glyfs*16

g.51970512_51970515del

rs772000260

exon3

MBD5

Frameshift

n.a

n.a

Pathogenic

35220961

c.1517_1518delTA

p.Ile506Argfs*27

g.51970517_51970518del

n.a

exon3

MBD5

Frameshift

n.a

n.a

Pathogenic

14986826

c.1510_1511insA

p.Ser504Tyrfs*2

g.51970524_51970525insT

n.a

exon3

MBD5

Frameshift

n.a

n.a

Pathogenic

34470610

c.1492A>T

p.Thr498Ser

g.51970543T>A

rs191631804

exon3

MBD5

Missense

/

Probably damaging (1.000)

Likely pathogenic

23843956

c.1475T>C

p.Leu492Ser

g.51970560A>G

rs1566580253

exon3

MBD5

Missense

Damaging (0.001)

Probably damaging (0.962)

Pathogenic

26782526

c.1470C>A

p.Cys490*

g.51970565G>T

rs778675259

exon3

MBD5

Nonsense

n.a

n.a

Pathogenic

9829905

c.1449_1456del

p.Arg483Serfs*20

g.51970579_51970586del

n.a

exon3

MBD4/MBD5

Frameshift

n.a

n.a

Pathogenic

21219664

c.1426G>A

p.Ala476Thr

g.51970609C>T

rs139289704

exon3

MBD4/MBD5

Missense

Tolerated (0.674)

Benign (0.001)

Uncertain significance

20465995

c.1403_1416del

p.Ala468Glyfs*33

g.51970619_51970632del

n.a

exon3

MBD4/MBD5

Frameshift

n.a

n.a

Pathogenic

27022412

c.1384_1400del

p.His462Cysfs*38

g.51970635_51970651del

n.a

exon3

MBD4/MBD5

Frameshift

n.a

n.a

Pathogenic

14966923

c.1366G>C

p.Val456Leu

g.51970669C>G

rs1801244

exon3

MBD4/MBD5

Missense

/

Benign(0.001)

Benign

25704634

c.1351G>A

p.Gly451Ser

g.51970684C>T

rs186300062

exon3

MBD4/MBD5

Missense

/

Benign(0.004)

Likely benign

L2007097869 (Embase)

c.1297_1307del

p.Thr433Trpfs*69

g.51970728_51970738del

n.a

exon3

MBD4/MBD5

Frameshift

n.a

n.a

Pathogenic

35220961

c.1262del

p.Gly421Aspfs*77

g.51973958del

n.a

exon2

MBD4

Frameshift

n.a

n.a

Pathogenic

35220961

c.1252G>T

p.Glu418*

g.51973968C>A

n.a

exon2

MBD4

Nonsense

n.a

n.a

Pathogenic

30702195

c.1219_1220delGT

p.Val407Asnfs*2

g.51974000_51974001del

n.a

exon2

MBD4

Frameshift

n.a

n.a

Pathogenic

35220961

c.1216T>G

p.Ser406Ala

g.51974004A>C

rs1801243

exon2

MBD4

Missense

/

Benign(0.001)

Benign

27022412,27398169

c.1210_1211dup

p.Asn404Lysfs*5

g.51974009_51974010dup

n.a

exon2

MBD4

Frameshift

n.a

n.a

Pathogenic

35220961

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