Viện nghiên cứu hệ gen

9371 matching variants

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CHROM

POS

REF

ALT

Gene

HGVS.c

HGVS.p

dbSNP142 ID

chr1

236899899

TC

T

frameshift_variant

ACTN2

c.95delC

p.Pro32fs

chr1

228564884

G

A

missense_variant

OBSCN

c.26042G>A

p.Arg8681His

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

228528563

C

G

missense_variant

OBSCN

c.20542C>G

p.Gln6848Glu

chr1

228509589

G

A

missense_variant

OBSCN

c.17918G>A

p.Arg5973Gln

chr1

228509427

A

G

missense_variant

OBSCN

c.17756A>G

p.Asp5919Gly

chr1

228505727

C

T

missense_variant

OBSCN

c.16855C>T

p.Arg5619Cys

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

228504472

T

C

missense_variant

OBSCN

c.16219T>C

p.Cys5407Arg

chr1

228503677

A

G

missense_variant

OBSCN

c.16013A>G

p.His5338Arg

chr1

228476367

A

T

missense_variant

OBSCN

c.11404A>T

p.Ser3802Cys

chr1

228476366

G

T

missense_variant

OBSCN

c.11403G>T

p.Glu3801Asp

chr1

228469904

G

T

missense_variant&splice_region_variant

OBSCN

c.9755G>T

p.Arg3252Ile

chr1

228469903

A

T

stop_gained

OBSCN

c.9754A>T

p.Arg3252*

chr1

228469870

C

T

missense_variant

OBSCN

c.9721C>T

p.Arg3241Trp

chr1

228467711

G

A

missense_variant

OBSCN

c.8873G>A

p.Arg2958Gln

chr1

228465346

A

G

missense_variant

OBSCN

c.8020A>G

p.Asn2674Asp