Viện nghiên cứu hệ gen

9371 matching variants

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CHROM

POS

REF

ALT

Gene

HGVS.c

HGVS.p

dbSNP142 ID

chr2

170175334

T

C

LRP2

c.248A>G

p.Asn83Ser

rs2229263

chr2

170053505

C

T

LRP2

c.8614G>A

p.Ala2872Thr

rs2228171

chr2

167099158

A

G

SCN9A

c.3448T>C

p.Trp1150Arg

rs6746030

chr2

47168774

C

G

TTC7A

c.94C>G

p.Leu32Val

rs144050892

chr1

236899899

TC

T

ACTN2

c.95delC

p.Pro32fs

rs11355106

chr1

228566473

C

T

OBSCN

c.26749C>T

p.His8917Tyr

rs540744111

chr1

228564884

G

A

OBSCN

c.26042G>A

p.Arg8681His

rs56174824

chr1

228559994

C

T

OBSCN

c.24386C>T

p.Ala8129Val

rs500049

chr1

228550426

C

T

OBSCN

c.21682C>T

p.Pro7228Ser

rs35155240

chr1

228548197

G

A

OBSCN

c.19604G>A

p.Arg6535His

rs10158354

chr1

228528563

C

G

OBSCN

c.20542C>G

p.Gln6848Glu

rs1188710

chr1

228520973

C

G

OBSCN

c.18676C>G

p.Leu6226Val

rs369909

chr1

228509427

A

G

OBSCN

c.17756A>G

p.Asp5919Gly

rs373610

chr1

228505727

C

T

OBSCN

c.16855C>T

p.Arg5619Cys

rs3795800

chr1

228505668

C

G

OBSCN

c.16796C>G

p.Ser5599Cys

rs1188729

chr1

228505204

G

A

OBSCN

c.16472G>A

p.Arg5491His

rs4653942

chr1

228504670

C

T

OBSCN

c.16417C>T

p.Arg5473Trp

rs11810627

chr1

228504472

T

C

OBSCN

c.16219T>C

p.Cys5407Arg

rs1188732

chr1

228503677

A

G

OBSCN

c.16013A>G

p.His5338Arg

rs1150912

chr1

228494790

G

A

OBSCN

c.14986G>A

p.Gly4996Arg

rs435776