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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr11
48145375
A
C
PTPRJ
c.827A>C
p.Gln276Pro
rs1566734
chr10
129854414
A
T
PTPRE
c.448A>T
p.Thr150Ser
rs78752313
chr10
126715629
C
T
CTBP2
c.700G>A
p.Val234Met
rs3781409
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
97453464
T
G
TCTN3
c.193A>C
p.Thr65Pro
rs11553577
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
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
chr10
52751347
C
G
PRKG1
c.209C>G
p.Thr70Arg
rs568266579
chr9
101533220
C
T
ANKS6
c.1930G>A
p.Val644Ile
rs6415847
chr9
98278972
T
C
PTCH1
c.131A>G
p.Glu44Gly
rs202111971
chr9
98209594
G
A
PTCH1
c.3944C>T
p.Pro1315Leu
rs357564
chr9
94495608
T
C
ROR2
c.733A>G
p.Thr245Ala
rs10820900