Viện nghiên cứu hệ gen

9371 matching variants

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CHROM

POS

REF

ALT

Gene

HGVS.c

HGVS.p

dbSNP142 ID

chr2

179644035

G

A

TTN

c.3884C>T

p.Ser1295Leu

rs1552280

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

179615931

C

G

TTN

c.11196G>C

p.Leu3732Phe

rs922985

chr2

179615887

T

C

TTN

c.11240A>G

p.Asp3747Gly

rs922984

chr2

179599473

C

T

TTN

c.15178G>A

p.Val5060Ile

rs72648929

chr2

179587130

C

G

TTN

c.22384G>C

p.Asp7462His

rs12693166

chr2

179583496

T

G

TTN

c.24431A>C

p.Glu8144Ala

rs16866465

chr2

179582537

G

T

TTN

c.25064C>A

p.Ala8355Glu

rs2627043

chr2

179582327

C

T

TTN

c.25274G>A

p.Ser8425Asn

rs13390491

chr2

179579093

T

C

TTN

c.26408A>G

p.Asn8803Ser

rs12693164

chr2

179558366

T

C

TTN

c.31564A>G

p.Ile10522Val

rs2042995

chr2

179469756

G

A

TTN

c.54148C>T

p.Arg18050Cys

rs55734111

chr2

179464527

T

C

TTN

c.56101A>G

p.Asn18701Asp

rs1001238

chr2

179458591

C

T

TTN

c.58436G>A

p.Arg19479His

rs2288569

chr2

179457147

G

A

TTN

c.59585C>T

p.Pro19862Leu

rs16866406

chr2

179451420

G

A

TTN

c.64208C>T

p.Thr21403Ile

rs2042996

chr2

179444939

C

T

TTN

c.67075G>A

p.Val22359Ile

rs2303838