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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr11
128782012
C
G
KCNJ5
c.844C>G
p.Gln282Glu
rs7102584
chr11
48166267
G
C
PTPRJ
c.2616G>C
p.Glu872Asp
rs4752904
chr11
2869129
G
A
KCNQ1
c.1927G>A
p.Gly643Ser
rs1800172
chr10
126714966
A
G
CTBP2
c.1363T>C
p.Tyr455His
rs3012075
chr10
126714714
G
C
CTBP2
c.1615C>G
p.Gln539Glu
rs2946994
chr10
88635779
C
A
BMPR1A
c.4C>A
p.Pro2Thr
rs11528010
chr10
76781905
GGAA
G
KAT6B
c.3310_3312delGAA
p.Glu1104del
rs144154275
chr10
73121913
A
G
SLC29A3
c.976A>G
p.Ile326Val
rs2487068
chr10
73115942
G
A
SLC29A3
c.715G>A
p.Val239Ile
rs2252996
chr10
73111408
C
T
SLC29A3
c.473C>T
p.Ser158Phe
rs780668
chr10
73082563
A
G
SLC29A3
c.52A>G
p.Arg18Gly
rs2277257
chr10
72195439
T
C
NODAL
c.494A>G
p.His165Arg
rs1904589
chr9
103035249
G
A
INVS
c.1675G>A
p.Ala559Thr
rs199553226
chr9
101533220
C
T
ANKS6
c.1930G>A
p.Val644Ile
rs6415847
chr9
98209594
G
A
PTCH1
c.3944C>T
p.Pro1315Leu
rs357564
chr9
94495608
T
C
ROR2
c.733A>G
p.Thr245Ala
rs10820900
chr9
94486321
C
T
ROR2
c.2455G>A
p.Val819Ile
rs10761129
chr8
106813518
C
G
ZFPM2
c.1208C>G
p.Ala403Gly
rs11993776
chr8
100133706
T
G
VPS13B
c.1239T>G
p.Tyr413*
rs7460625
chr8
27634064
C
T
ESCO2
c.239C>T
p.Ala80Val
rs4732748