Viện nghiên cứu hệ gen

9371 matching variants

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CHROM

POS

REF

ALT

Gene

HGVS.c

HGVS.p

dbSNP142 ID

chr2

179472292

T

A

missense_variant

TTN

c.53123A>T

p.Lys17708Ile

chr2

179470278

C

T

missense_variant

TTN

c.53744G>A

p.Arg17915Gln

chr2

179464527

T

C

missense_variant

TTN

c.56101A>G

p.Asn18701Asp

chr2

179451420

G

A

missense_variant

TTN

c.64208C>T

p.Thr21403Ile

chr2

179444768

C

G

missense_variant

TTN

c.67246G>C

p.Ala22416Pro

chr2

179434139

A

G

missense_variant

TTN

c.76720T>C

p.Tyr25574His

chr2

179433580

T

C

missense_variant

TTN

c.77279A>G

p.Asn25760Ser

chr2

179433221

T

C

missense_variant

TTN

c.77638A>G

p.Thr25880Ala

chr2

179431594

A

G

missense_variant

TTN

c.79265T>C

p.Ile26422Thr

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

179414017

C

G

missense_variant

TTN

c.92336G>C

p.Arg30779Thr

chr2

179411011

T

C

missense_variant

TTN

c.95047A>G

p.Ser31683Gly

chr2

179401740

C

T

missense_variant

TTN

c.100096G>A

p.Val33366Ile

chr2

170053505

C

T

missense_variant

LRP2

c.8614G>A

p.Ala2872Thr

chr2

170010985

T

C

missense_variant

LRP2

c.12280A>G

p.Lys4094Glu

chr2

170003432

T

G

missense_variant

LRP2

c.12628A>C

p.Ile4210Leu

chr2

167099158

A

G

missense_variant

SCN9A

c.3448T>C

p.Trp1150Arg

chr2

11359120

G

T

missense_variant

ROCK2

c.1292C>A

p.Thr431Asn

chr1

236910983

G

A

missense_variant

ACTN2

c.1423G>A

p.Asp475Asn