Viện nghiên cứu hệ gen

9371 matching variants

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CHROM

POS

REF

ALT

Gene

HGVS.c

HGVS.p

dbSNP142 ID

chr20

50408673

C

T

missense_variant

SALL4

c.349G>A

p.Gly117Arg

chr20

50407502

A

C

missense_variant

SALL4

c.1520T>G

p.Leu507Arg

chr20

45354291

G

A

missense_variant

SLC2A10

c.616G>A

p.Ala206Thr

chr20

31022959

T

C

missense_variant

ASXL1

c.2444T>C

p.Leu815Pro

chr20

10653603

C

A

missense_variant

JAG1

c.133G>T

p.Val45Leu

chr20

6759115

A

T

missense_variant

BMP2

c.570A>T

p.Arg190Ser

chr19

39994711

T

C

missense_variant&splice_region_variant

DLL3

c.653T>C

p.Leu218Pro

chr19

38979933

TGAG

T

inframe_deletion

RYR1

c.5671_5673delGAG

p.Glu1891del

chr19

18273047

T

C

missense_variant

PIK3R2

c.937T>C

p.Ser313Pro

chr19

11358799

G

A

missense_variant

DOCK6

c.749C>T

p.Pro250Leu

chr19

8669931

G

C

missense_variant

ADAMTS10

c.401C>G

p.Thr134Ser

chr19

8645786

A

C

missense_variant

ADAMTS10

c.3303T>G

p.His1101Gln

chr18

59814324

G

C

missense_variant

PIGN

c.685C>G

p.His229Asp

chr18

59805532

T

C

splice_acceptor_variant&intron_variant

PIGN

c.1117-1A>G

.

chr17

39912145

T

A

missense_variant&splice_region_variant

JUP

c.2089A>T

p.Met697Leu

chr17

17697101

AG

A

frameshift_variant

RAI1

c.840delG

p.Gln280fs

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

17696531

G

C

missense_variant

RAI1

c.269G>C

p.Gly90Ala

chr16

89866043

T

C

missense_variant

FANCA

c.796A>G

p.Thr266Ala