Viện nghiên cứu hệ gen

9371 matching variants

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CHROM

POS

REF

ALT

Gene

HGVS.c

HGVS.p

dbSNP142 ID

chr3

38640451

G

A

SCN5A

c.1981C>T

p.Arg661Trp

rs199473139

chr3

24006477

T

A

NR1D2

c.1156T>A

p.Leu386Met

rs4858097

chr3

10106532

C

T

FANCD2

c.2141C>T

p.Pro714Leu

rs3864017

chr3

10088407

AG

A

FANCD2

c.1278+1delG

.

.

chr3

10088343

A

G

FANCD2

c.1214A>G

p.Asn405Ser

rs73126218

chr3

9976159

A

G

CRELD1

c.37A>G

p.Met13Val

rs279552

chr2

189875421

T

G

COL3A1

c.4059T>G

p.His1353Gln

rs1516446

chr2

179659912

G

A

TTN

c.982C>T

p.Arg328Cys

rs16866538

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