Viện nghiên cứu hệ GEN

chr12

31256546

G

A

missense_variant

DDX11

c.2567G>A

p.Arg856His

chr12

31249861

C

G

missense_variant

DDX11

c.1699C>G

p.Gln567Glu

chr12

31244665

C

T

missense_variant

DDX11

c.1102C>T

p.Pro368Ser

chr12

7343108

GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA

G

frameshift_variant&splice_donor_variant&splice_region_variant&splice_region_variant&intron_variant

PEX5

c.195_210+29delGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCAGCCTCTGAGGCA

p.Ala65fs

chr12

6711147

C

A

missense_variant

CHD4

c.417G>T

p.Glu139Asp

chr12

2791205

A

G

missense_variant

CACNA1C

c.5678A>G

p.Lys1893Arg

chr11

128782012

C

G

missense_variant

KCNJ5

c.844C>G

p.Gln282Glu

chr11

48146622

G

A

missense_variant

PTPRJ

c.977G>A

p.Arg326Gln

chr11

48145375

A

C

missense_variant

PTPRJ

c.827A>C

p.Gln276Pro

chr10

126714966

A

G

missense_variant

CTBP2

c.1363T>C

p.Tyr455His

chr10

126714714

G

C

missense_variant

CTBP2

c.1615C>G

p.Gln539Glu

chr10

76781905

GGAA

G

inframe_deletion

KAT6B

c.3310_3312delGAA

p.Glu1104del

chr10

75867074

G

C

missense_variant

VCL

c.2521G>C

p.Asp841His

chr10

73121913

A

G

missense_variant

SLC29A3

c.976A>G

p.Ile326Val

chr10

73115942

G

A

missense_variant

SLC29A3

c.715G>A

p.Val239Ile

chr10

73111408

C

T

missense_variant

SLC29A3

c.473C>T

p.Ser158Phe

chr10

72195439

T

C

missense_variant

NODAL

c.494A>G

p.His165Arg

chr10

69934258

C

G

missense_variant

MYPN

c.2409C>G

p.Ser803Arg

chr9

101533220

C

T

missense_variant

ANKS6

c.1930G>A

p.Val644Ile

chr9

98209594

G

A

missense_variant

PTCH1

c.3944C>T

p.Pro1315Leu