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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr12
31249861
C
G
DDX11
c.1699C>G
p.Gln567Glu
rs2075322
chr12
31244665
C
T
DDX11
c.1102C>T
p.Pro368Ser
rs201612562
chr12
7343108
GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA
G
PEX5
c.195_210+29delGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCAGCCTCTGAGGCA
p.Ala65fs
.
chr12
2791205
A
G
CACNA1C
c.5678A>G
p.Lys1893Arg
rs10774054
chr12
2791132
A
G
CACNA1C
c.5605A>G
p.Met1869Val
rs10774053
chr12
2791130
C
T
CACNA1C
c.5603C>T
p.Pro1868Leu
rs10848683
chr11
128782012
C
G
KCNJ5
c.844C>G
p.Gln282Glu
rs7102584
chr11
48146622
G
A
PTPRJ
c.977G>A
p.Arg326Gln
rs1503185
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