Viện nghiên cứu hệ gen

9371 matching variants

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CHROM

POS

REF

ALT

Gene

HGVS.c

HGVS.p

dbSNP142 ID

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

179578704

G

A

TTN

c.26681C>T

p.Pro8894Leu

rs13398235

chr2

179571448

A

G

TTN

c.29153T>C

p.Ile9718Thr

rs4893852

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

rs139508281

chr2

179518003

A

G

TTN

c.38753T>C

p.Leu12918Ser

rs2562847

chr2

179514941

TTTTCCTCTTCAGGAGCAA

T

TTN

c.39749_39766delTTGCTCCTGAAGAGGAAA

p.Ile13250_Glu13255del

rs139512154

chr2

179474668

G

A

TTN

c.51482C>T

p.Ala17161Val

rs16866412

chr2

179464527

T

C

TTN

c.56101A>G

p.Asn18701Asp

rs1001238

chr2

179451420

G

A

TTN

c.64208C>T

p.Thr21403Ile

rs2042996

chr2

179444939

C

T

TTN

c.67075G>A

p.Val22359Ile

rs2303838

chr2

179444768

C

G

TTN

c.67246G>C

p.Ala22416Pro

rs4145333

chr2

179438866

C

T

TTN

c.71993G>A

p.Arg23998His

rs10164753

chr2

179434516

C

T

TTN

c.76343G>A

p.Ser25448Asn

rs3813243

chr2

179430997

G

A

TTN

c.79862C>T

p.Thr26621Met

rs3731746

chr2

179427536

T

C

TTN

c.83323A>G

p.Ile27775Val

rs3829746