Viện nghiên cứu hệ gen

9371 matching variants

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CHROM

POS

REF

ALT

Gene

HGVS.c

HGVS.p

dbSNP142 ID

chr17

17696531

G

C

RAI1

c.269G>C

p.Gly90Ala

rs3803763

chr16

89866043

T

C

FANCA

c.796A>G

p.Thr266Ala

rs7190823

chr16

89857935

G

A

FANCA

c.1235C>T

p.Ala412Val

rs11646374

chr16

89849480

C

T

FANCA

c.1501G>A

p.Gly501Ser

rs2239359

chr16

89839766

G

C

FANCA

c.1927C>G

p.Pro643Ala

rs17232910

chr16

89836323

C

T

FANCA

c.2426G>A

p.Gly809Asp

rs7195066

chr16

89805914

T

C

FANCA

c.3982A>G

p.Thr1328Ala

rs9282681

chr16

88504868

A

G

ZNF469

c.10906A>G

p.Thr3636Ala

rs904783

chr16

88504850

G

C

ZNF469

c.10888G>C

p.Glu3630Gln

rs1105066

chr16

88502505

A

G

ZNF469

c.8543A>G

p.His2848Arg

rs1983014

chr16

88501971

T

A

ZNF469

c.8009T>A

p.Leu2670Gln

rs3812956

chr16

88501034

G

C

ZNF469

c.7072G>C

p.Gly2358Arg

rs12598474

chr16

88498221

C

T

ZNF469

c.4259C>T

p.Pro1420Leu

rs4782300

chr16

88497446

A

G

ZNF469

c.3484A>G

p.Lys1162Glu

rs7197071

chr16

88496277

C

G

ZNF469

c.2399C>G

p.Ala800Gly

.

chr16

88495407

G

C

ZNF469

c.1529G>C

p.Gly510Ala

rs7199961

chr16

88494976

A

C

ZNF469

c.1098A>C

p.Arg366Ser

rs11640794

chr16

88494947

T

C

ZNF469

c.1069T>C

p.Ser357Pro

rs11648572

chr16

56548501

C

T

BBS2

c.209G>A

p.Ser70Asn

rs4784677

chr16

56545175

T

C

BBS2

c.367A>G

p.Ile123Val

rs11373