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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
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
chr7
150645534
T
G
KCNH2
c.2690A>C
p.Lys897Thr
rs1805123
chr7
94043239
C
G
COL1A2
c.1645C>G
p.Pro549Ala
rs42524
chr7
73969541
A
G
GTF2IRD1
c.2050A>G
p.Met684Val
rs2301895
chr7
73814749
G
C
CLIP2
c.2930G>C
p.Arg977Pro
rs2522943
chr7
42088222
T
C
GLI3
c.547A>G
p.Thr183Ala
rs846266
chr7
42005678
G
A
GLI3
c.2993C>T
p.Pro998Leu
rs929387
chr7
27135314
C
T
HOXA1
c.218G>A
p.Arg73His
rs10951154
chr6
110107517
T
C
FIG4
c.1961T>C
p.Val654Ala
rs9885672
chr6
110064928
A
T
FIG4
c.1090A>T
p.Met364Leu
rs2295837