Viện nghiên cứu hệ gen

9371 matching variants

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CHROM

POS

REF

ALT

Gene

HGVS.c

HGVS.p

dbSNP142 ID

chr2

179582537

G

T

missense_variant&splice_region_variant

TTN

c.25064C>A

p.Ala8355Glu

chr2

179582327

C

T

missense_variant

TTN

c.25274G>A

p.Ser8425Asn

chr2

179579093

T

C

missense_variant

TTN

c.26408A>G

p.Asn8803Ser

chr2

179571595

C

T

missense_variant

TTN

c.29128G>A

p.Val9710Ile

chr2

179569384

C

A

stop_gained

TTN

c.29815G>T

p.Glu9939*

chr2

179558366

T

C

missense_variant

TTN

c.31564A>G

p.Ile10522Val

chr2

179552906

A

G

missense_variant

TTN

c.32243T>C

p.Val10748Ala

chr2

179464527

T

C

missense_variant

TTN

c.56101A>G

p.Asn18701Asp

chr2

179458591

C

T

missense_variant

TTN

c.58436G>A

p.Arg19479His

chr2

179457147

G

A

missense_variant

TTN

c.59585C>T

p.Pro19862Leu

chr2

179451420

G

A

missense_variant

TTN

c.64208C>T

p.Thr21403Ile

chr2

179444939

C

T

missense_variant

TTN

c.67075G>A

p.Val22359Ile

chr2

179444768

C

G

missense_variant

TTN

c.67246G>C

p.Ala22416Pro

chr2

179436020

G

A

missense_variant

TTN

c.74839C>T

p.Arg24947Cys

chr2

179434120

G

A

missense_variant

TTN

c.76739C>T

p.Thr25580Met

chr2

179430997

G

A

missense_variant

TTN

c.79862C>T

p.Thr26621Met

chr2

179427536

T

C

missense_variant

TTN

c.83323A>G

p.Ile27775Val

chr2

179421694

A

G

missense_variant

TTN

c.88187T>C

p.Ile29396Thr

chr2

179406191

C

T

missense_variant

TTN

c.97613G>A

p.Arg32538His

chr2

179397561

C

T

missense_variant

TTN

c.103781G>A

p.Arg34594His