Page size
CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr12
2791130
C
T
missense_variant
CACNA1C
c.5603C>T
p.Pro1868Leu
chr11
128782012
C
G
missense_variant
KCNJ5
c.844C>G
p.Gln282Glu
chr11
48188871
C
T
missense_variant
PTPRJ
c.3971C>T
p.Ala1324Val
chr11
48146622
G
A
missense_variant
PTPRJ
c.977G>A
p.Arg326Gln
chr11
48145375
A
C
missense_variant
PTPRJ
c.827A>C
p.Gln276Pro
chr11
47370041
T
C
missense_variant
MYBPC3
c.706A>G
p.Ser236Gly
chr11
47359040
C
A
missense_variant
MYBPC3
c.2504G>T
p.Arg835Leu
chr10
129854414
A
T
missense_variant
PTPRE
c.448A>T
p.Thr150Ser
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
126678177
G
T
missense_variant
CTBP2
c.2868C>A
p.Asn956Lys
chr10
126678128
T
A
missense_variant
CTBP2
c.2917A>T
p.Thr973Ser
chr10
126678122
GT
G
frameshift_variant
CTBP2
c.2922delA
p.Lys974fs
chr10
126678092
G
A
stop_gained
CTBP2
c.2953C>T
p.Gln985*
chr10
88635779
C
A
missense_variant
BMPR1A
c.4C>A
p.Pro2Thr
chr10
76781905
GGAA
G
inframe_deletion
KAT6B
c.3310_3312delGAA
p.Glu1104del
chr10
75871722
C
T
missense_variant
VCL
c.2801C>T
p.Ala934Val
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
72195439
T
C
missense_variant
NODAL
c.494A>G
p.His165Arg