Viện nghiên cứu hệ gen

9371 matching variants

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CHROM

POS

REF

ALT

Gene

HGVS.c

HGVS.p

dbSNP142 ID

chr17

17697098

AGC

A

frameshift_variant

RAI1

c.837_838delGC

p.Gln279fs

chr17

17696755

C

A

missense_variant

RAI1

c.493C>A

p.Pro165Thr

chr17

17696546

C

T

missense_variant

RAI1

c.284C>T

p.Pro95Leu

chr17

17696531

G

C

missense_variant

RAI1

c.269G>C

p.Gly90Ala

chr17

17696462

C

G

missense_variant

RAI1

c.200C>G

p.Ser67Cys

chr16

89866043

T

C

missense_variant

FANCA

c.796A>G

p.Thr266Ala

chr16

89849480

C

T

missense_variant

FANCA

c.1501G>A

p.Gly501Ser

chr16

89836323

C

T

missense_variant

FANCA

c.2426G>A

p.Gly809Asp

chr16

88504868

A

G

missense_variant

ZNF469

c.10906A>G

p.Thr3636Ala

chr16

88504850

G

C

missense_variant

ZNF469

c.10888G>C

p.Glu3630Gln

chr16

88502505

A

G

missense_variant

ZNF469

c.8543A>G

p.His2848Arg

chr16

88501971

T

A

missense_variant

ZNF469

c.8009T>A

p.Leu2670Gln

chr16

88501386

C

A

missense_variant

ZNF469

c.7424C>A

p.Ala2475Glu

chr16

88501034

G

C

missense_variant

ZNF469

c.7072G>C

p.Gly2358Arg

chr16

88498221

C

T

missense_variant

ZNF469

c.4259C>T

p.Pro1420Leu

chr16

88497446

A

G

missense_variant

ZNF469

c.3484A>G

p.Lys1162Glu

chr16

88495407

G

C

missense_variant

ZNF469

c.1529G>C

p.Gly510Ala

chr16

88494976

A

C

missense_variant

ZNF469

c.1098A>C

p.Arg366Ser

chr16

88494947

T

C

missense_variant

ZNF469

c.1069T>C

p.Ser357Pro

chr16

88494824

G

A

missense_variant

ZNF469

c.946G>A

p.Glu316Lys