Viện nghiên cứu hệ gen

9371 matching variants

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CHROM

POS

REF

ALT

Gene

HGVS.c

HGVS.p

dbSNP142 ID

chr2

179641975

C

T

missense_variant

TTN

c.4715G>A

p.Arg1572Gln

chr2

179637861

C

G

missense_variant

TTN

c.7830G>C

p.Met2610Ile

chr2

179634936

C

T

missense_variant

TTN

c.8492G>A

p.Ser2831Asn

chr2

179621477

C

T

missense_variant

TTN

c.10726G>A

p.Ala3576Thr

chr2

179615931

C

G

missense_variant

TTN

c.11196G>C

p.Leu3732Phe

chr2

179613264

C

T

missense_variant

TTN

c.13863G>A

p.Met4621Ile

chr2

179611711

C

A

missense_variant

TTN

c.15416G>T

p.Arg5139Met

chr2

179606538

G

A

missense_variant

TTN

c.11422C>T

p.Pro3808Ser

chr2

179604366

T

G

missense_variant

TTN

c.13594A>C

p.Thr4532Pro

chr2

179604160

T

G

missense_variant

TTN

c.13800A>C

p.Leu4600Phe

chr2

179600648

C

T

missense_variant

TTN

c.14525G>A

p.Arg4842Lys

chr2

179582537

G

T

missense_variant&splice_region_variant

TTN

c.25064C>A

p.Ala8355Glu

chr2

179581835

C

A

missense_variant

TTN

c.25626G>T

p.Gln8542His

chr2

179558366

T

C

missense_variant

TTN

c.31564A>G

p.Ile10522Val

chr2

179554305

C

T

missense_variant

TTN

c.31864G>A

p.Gly10622Arg

chr2

179528378

C

T

missense_variant

TTN

c.36508G>A

p.Glu12170Lys

chr2

179523514

T

A

missense_variant

TTN

c.37461A>T

p.Glu12487Asp

chr2

179518003

A

G

missense_variant

TTN

c.38753T>C

p.Leu12918Ser

chr2

179499530

T

C

missense_variant

TTN

c.42071A>G

p.His14024Arg

chr2

179483430

G

A

missense_variant

TTN

c.46847C>T

p.Thr15616Met