Viện nghiên cứu hệ gen

9371 matching variants

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CHROM

POS

REF

ALT

Gene

HGVS.c

HGVS.p

dbSNP142 ID

chr2

179629461

C

T

TTN

c.9781G>A

p.Val3261Met

rs2291311

chr2

179623758

C

T

TTN

c.10256G>A

p.Ser3419Asn

rs2291310

chr2

179621477

C

T

TTN

c.10726G>A

p.Ala3576Thr

rs6433728

chr2

179620951

C

T

TTN

c.11252G>A

p.Gly3751Asp

rs7585334

chr2

179611711

C

A

TTN

c.15416G>T

p.Arg5139Met

rs66677602

chr2

179606538

G

A

TTN

c.11422C>T

p.Pro3808Ser

rs2627037

chr2

179604366

T

G

TTN

c.13594A>C

p.Thr4532Pro

rs2562829

chr2

179604160

T

G

TTN

c.13800A>C

p.Leu4600Phe

rs1883085

chr2

179583496

T

G

TTN

c.24431A>C

p.Glu8144Ala

rs16866465

chr2

179558366

T

C

TTN

c.31564A>G

p.Ile10522Val

rs2042995

chr2

179554305

C

T

TTN

c.31864G>A

p.Gly10622Arg

rs2244492

chr2

179528378

C

T

TTN

c.36508G>A

p.Glu12170Lys

rs2163008

chr2

179528038

A

C

TTN

c.36655T>G

p.Leu12219Val

rs12994774

chr2

179523514

T

A

TTN

c.37461A>T

p.Glu12487Asp

rs200021871

chr2

179518003

A

G

TTN

c.38753T>C

p.Leu12918Ser

rs2562847

chr2

179514619

G

A

TTN

c.39820C>T

p.Pro13274Ser

rs765750954

chr2

179499530

T

C

TTN

c.42071A>G

p.His14024Arg

rs2288563

chr2

179472292

T

A

TTN

c.53123A>T

p.Lys17708Ile

rs2303832

chr2

179464527

T

C

TTN

c.56101A>G

p.Asn18701Asp

rs1001238

chr2

179451420

G

A

TTN

c.64208C>T

p.Thr21403Ile

rs2042996