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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr12
49431094
T
C
KMT2D
c.10045A>G
p.Met3349Val
rs80149580
chr12
48398080
T
A
COL2A1
c.25A>T
p.Thr9Ser
rs3803183
chr12
48367976
C
T
COL2A1
c.4213G>A
p.Gly1405Ser
rs2070739
chr12
31256905
T
C
DDX11
c.2851T>C
p.Cys951Arg
rs1046458
chr12
31256546
G
A
DDX11
c.2567G>A
p.Arg856His
rs1046457
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