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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr12
51723598
A
AG
CELA1
c.628dupC
p.Leu210fs
rs17860363
chr12
25368462
C
T
KRAS
c.483G>A
.
rs4362222
chr12
7343108
GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA
G
PEX5
c.136_180delGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA
.
rs757612863
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
128333503
T
C
ETS1
c.1011A>G
.
rs2230004
chr11
125769354
T
C
HYLS1
c.91T>C
p.Cys31Arg
rs667782
chr11
111963860
A
G
SDHD
c.371A>G
p.Gln124Arg
rs592626
chr11
6662745
C
CCAG
DCHS1
c.97_99dupCTG
p.Leu33dup
rs376287018;rs751807164
chr11
5248243
A
G
HBB
c.9T>C
.
rs713040
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
126678092
G
A
CTBP2
c.2953C>T
p.Gln985*
rs73373169
chr10
123298158
T
C
FGFR2
c.696A>G
.
rs1047100
chr10
121436286
C
T
BAG3
c.1220C>T
p.Pro407Leu
rs3858340
chr10
115410234
T
C
NRAP
c.746A>G
p.Tyr249Cys
rs2185913
chr10
115381747
G
A
NRAP
c.2650C>T
p.Arg884Cys
rs868738
chr10
115370274
T
C
NRAP
c.3547A>G
p.Ile1183Val
rs10749138