Viện nghiên cứu hệ gen

9371 matching variants

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CHROM

POS

REF

ALT

Gene

HGVS.c

HGVS.p

dbSNP142 ID

chr16

89857935

G

A

missense_variant

FANCA

c.1235C>T

p.Ala412Val

chr16

89849480

C

T

missense_variant

FANCA

c.1501G>A

p.Gly501Ser

chr16

89839766

G

C

missense_variant

FANCA

c.1927C>G

p.Pro643Ala

chr16

89836323

C

T

missense_variant

FANCA

c.2426G>A

p.Gly809Asp

chr16

89805914

T

C

missense_variant

FANCA

c.3982A>G

p.Thr1328Ala

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

88501998

C

T

missense_variant

ZNF469

c.8036C>T

p.Ala2679Val

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

chr16

56548501

C

T

missense_variant

BBS2

c.209G>A

p.Ser70Asn

chr16

56545175

T

C

missense_variant

BBS2

c.367A>G

p.Ile123Val