Viện nghiên cứu hệ gen

9371 matching variants

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CHROM

POS

REF

ALT

Gene

HGVS.c

HGVS.p

dbSNP142 ID

chr3

184103903

A

C

missense_variant

CHRD

c.1888A>C

p.Met630Leu

chr3

123457893

G

A

missense_variant

MYLK

c.439C>T

p.Pro147Ser

chr3

123453061

A

G

missense_variant

MYLK

c.782T>C

p.Val261Ala

chr3

123451773

G

C

missense_variant

MYLK

c.1486C>G

p.Leu496Val

chr3

123419733

A

G

missense_variant

MYLK

c.2582T>C

p.Leu861Pro

chr3

123419573

G

T

missense_variant

MYLK

c.2742C>A

p.Asp914Glu

chr3

123419116

GTTC

G

inframe_deletion

MYLK

c.3196_3198delGAA

p.Glu1066del

chr3

119133183

G

A

missense_variant

ARHGAP31

c.2407G>A

p.Gly803Ser

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

10106532

C

T

missense_variant

FANCD2

c.2141C>T

p.Pro714Leu

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

240061403

C

T

missense_variant

HDAC4

c.955G>A

p.Ala319Thr

chr2

233391303

C

G

missense_variant

CHRND

c.117C>G

p.Asn39Lys

chr2

189875421

T

G

missense_variant

COL3A1

c.4059T>G

p.His1353Gln

chr2

179644035

G

A

missense_variant

TTN

c.3884C>T

p.Ser1295Leu