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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr10
126715154
A
G
CTBP2
c.1175T>C
p.Leu392Pro
rs3781412
chr10
126714966
A
G
CTBP2
c.1363T>C
p.Tyr455His
rs3012075
chr10
126714714
G
C
CTBP2
c.1615C>G
p.Gln539Glu
rs2946994
chr10
123310871
A
G
FGFR2
c.557T>C
p.Met186Thr
rs755793
chr10
88635779
C
A
BMPR1A
c.4C>A
p.Pro2Thr
rs11528010
chr10
75867074
G
C
VCL
c.2521G>C
p.Asp841His
rs150385900
chr10
73767859
G
A
CHST3
c.1070G>A
p.Arg357Gln
rs3740129
chr10
73121913
A
G
SLC29A3
c.976A>G
p.Ile326Val
rs2487068
chr10
73115942
G
A
SLC29A3
c.715G>A
p.Val239Ile
rs2252996
chr10
73082563
A
G
SLC29A3
c.52A>G
p.Arg18Gly
rs2277257
chr10
72195439
T
C
NODAL
c.494A>G
p.His165Arg
rs1904589
chr9
102888676
C
G
INVS
c.118C>G
p.Leu40Val
rs148219510
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
100865836
G
A
VPS13B
c.10294G>A
p.Gly3432Arg
rs6468694
chr8
100791156
T
C
VPS13B
c.7751T>C
p.Val2584Ala
rs7833870
chr7
150700263
G
C
NOS3
c.1777G>C
p.Glu593Gln
.
chr7
150696111
T
G
NOS3
c.894T>G
p.Asp298Glu
rs1799983