Viện nghiên cứu hệ gen

9371 matching variants

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CHROM

POS

REF

ALT

Gene

HGVS.c

HGVS.p

dbSNP142 ID

chr2

28796073

G

T

PLB1

c.1334G>T

p.Arg445Leu

rs78408135

chr1

228528563

C

G

OBSCN

c.20542C>G

p.Gln6848Glu

rs1188710

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

228504472

T

C

OBSCN

c.16219T>C

p.Cys5407Arg

rs1188732

chr1

228503677

A

G

OBSCN

c.16013A>G

p.His5338Arg

rs1150912

chr1

228476367

A

T

OBSCN

c.11404A>T

p.Ser3802Cys

rs3795790

chr1

228476366

G

T

OBSCN

c.11403G>T

p.Glu3801Asp

rs3795789

chr1

228474485

G

A

OBSCN

c.10576G>A

p.Val3526Ile

rs190491710

chr1

228469904

G

T

OBSCN

c.9755G>T

p.Arg3252Ile

rs3795787

chr1

228469903

A

T

OBSCN

c.9754A>T

p.Arg3252*

rs3795786

chr1

228469870

C

T

OBSCN

c.9721C>T

p.Arg3241Trp

rs3795785

chr1

228468483

G

A

OBSCN

c.9470G>A

p.Arg3157Gln

rs182094036

chr1

228467711

G

A

OBSCN

c.8873G>A

p.Arg2958Gln

rs3795783

chr1

228465346

A

G

OBSCN

c.8020A>G

p.Asn2674Asp

rs493945

chr1

228464276

T

C

OBSCN

c.7471T>C

p.Phe2491Leu

rs1188722

chr1

228464248

T

G

OBSCN

c.7443T>G

p.Asp2481Glu

rs1188721

chr1

228461129

A

G

OBSCN

c.6143A>G

p.His2048Arg

rs1188724