Viện nghiên cứu hệ gen

9371 matching variants

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CHROM

POS

REF

ALT

Gene

HGVS.c

HGVS.p

dbSNP142 ID

chr3

111286375

G

C

missense_variant

CD96

c.424G>C

p.Ala142Pro

chr3

58118555

G

A

missense_variant

FLNB

c.4504G>A

p.Val1502Met

chr3

58109162

G

A

missense_variant

FLNB

c.3469G>A

p.Asp1157Asn

chr3

24006477

T

A

missense_variant

NR1D2

c.1156T>A

p.Leu386Met

chr3

10088407

AG

A

splice_donor_variant&intron_variant

FANCD2

c.1278+1delG

.

chr3

10088343

A

G

missense_variant

FANCD2

c.1214A>G

p.Asn405Ser

chr3

9976159

A

G

missense_variant

CRELD1

c.37A>G

p.Met13Val

chr2

189875421

T

G

missense_variant

COL3A1

c.4059T>G

p.His1353Gln

chr2

189864080

G

A

missense_variant

COL3A1

c.2092G>A

p.Ala698Thr

chr2

179659912

G

A

missense_variant

TTN

c.982C>T

p.Arg328Cys

chr2

179644035

G

A

missense_variant

TTN

c.3884C>T

p.Ser1295Leu

chr2

179629461

C

T

missense_variant

TTN

c.9781G>A

p.Val3261Met

chr2

179623758

C

T

missense_variant

TTN

c.10256G>A

p.Ser3419Asn

chr2

179621477

C

T

missense_variant

TTN

c.10726G>A

p.Ala3576Thr

chr2

179620951

C

T

missense_variant&splice_region_variant

TTN

c.11252G>A

p.Gly3751Asp

chr2

179615931

C

G

missense_variant

TTN

c.11196G>C

p.Leu3732Phe

chr2

179615887

T

C

missense_variant

TTN

c.11240A>G

p.Asp3747Gly

chr2

179597259

T

C

missense_variant

TTN

c.16529A>G

p.Tyr5510Cys

chr2

179587130

C

G

missense_variant

TTN

c.22384G>C

p.Asp7462His

chr2

179583496

T

G

missense_variant

TTN

c.24431A>C

p.Glu8144Ala