Viện nghiên cứu hệ gen

9371 matching variants

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CHROM

POS

REF

ALT

Gene

HGVS.c

HGVS.p

dbSNP142 ID

chr2

170177382

G

A

missense_variant

LRP2

c.92C>T

p.Ala31Val

chr2

170053505

C

T

missense_variant

LRP2

c.8614G>A

p.Ala2872Thr

chr2

167099158

A

G

missense_variant

SCN9A

c.3448T>C

p.Trp1150Arg

chr2

47251469

G

C

missense_variant

TTC7A

c.1612G>C

p.Val538Leu

chr2

44059159

A

T

missense_variant

ABCG5

c.329T>A

p.Leu110Gln

chr2

44059152

C

CT

frameshift_variant

ABCG5

c.335dupA

p.Val113fs

chr2

11359120

G

T

missense_variant

ROCK2

c.1292C>A

p.Thr431Asn

chr1

236899899

TC

T

frameshift_variant

ACTN2

c.95delC

p.Pro32fs

chr1

228559994

C

T

missense_variant

OBSCN

c.24386C>T

p.Ala8129Val

chr1

228550426

C

T

missense_variant

OBSCN

c.21682C>T

p.Pro7228Ser

chr1

228548197

G

A

missense_variant

OBSCN

c.19604G>A

p.Arg6535His

chr1

228547827

G

C

missense_variant

OBSCN

c.19234G>C

p.Ala6412Pro

chr1

228528563

C

G

missense_variant

OBSCN

c.20542C>G

p.Gln6848Glu

chr1

228509427

A

G

missense_variant

OBSCN

c.17756A>G

p.Asp5919Gly

chr1

228505668

C

G

missense_variant

OBSCN

c.16796C>G

p.Ser5599Cys

chr1

228505204

G

A

missense_variant

OBSCN

c.16472G>A

p.Arg5491His

chr1

228504650

G

A

missense_variant

OBSCN

c.16397G>A

p.Arg5466His

chr1

228504472

T

C

missense_variant

OBSCN

c.16219T>C

p.Cys5407Arg

chr1

228503677

A

G

missense_variant

OBSCN

c.16013A>G

p.His5338Arg

chr1

228475954

C

T

missense_variant

OBSCN

c.11291C>T

p.Ala3764Val