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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr20
31024207
C
T
ASXL1
c.3692C>T
p.Ser1231Phe
rs74638057
chr20
31022959
T
C
ASXL1
c.2444T>C
p.Leu815Pro
rs6058694
chr20
6759115
A
T
BMP2
c.570A>T
p.Arg190Ser
rs235768
chr19
39994711
T
C
DLL3
c.653T>C
p.Leu218Pro
rs1110627
chr19
39055751
C
CGACGAG
RYR1
c.12785_12790dupACGAGG
p.Asp4262_Glu4263dup
.
chr19
39025366
C
G
RYR1
c.11266C>G
p.Gln3756Glu
rs4802584
chr19
35524944
G
C
SCN1B
c.749G>C
p.Arg250Thr
rs67486287
chr19
35524939
C
A
SCN1B
c.744C>A
p.Ser248Arg
rs67701503
chr19
35524824
T
C
SCN1B
c.629T>C
p.Leu210Pro
rs55742440
chr19
18980172
G
A
GDF1
c.353C>T
p.Ala118Val
rs4808863
chr19
18273047
T
C
PIK3R2
c.937T>C
p.Ser313Pro
rs1011320
chr19
18266699
C
T
PIK3R2
c.10C>T
p.Pro4Ser
rs142933317
chr19
11358799
G
A
DOCK6
c.749C>T
p.Pro250Leu
rs12978266
chr19
8669931
G
C
ADAMTS10
c.401C>G
p.Thr134Ser
rs7255721
chr19
8645786
A
C
ADAMTS10
c.3303T>G
p.His1101Gln
rs7252299
chr18
59814324
G
C
PIGN
c.685C>G
p.His229Asp
rs9320001
chr18
59805532
T
C
PIGN
c.1117-1A>G
.
rs9959632
chr18
42532693
C
A
SETBP1
c.3388C>A
p.Pro1130Thr
rs1064204
chr18
42532606
G
A
SETBP1
c.3301G>A
p.Val1101Ile
rs3744825
chr18
42531184
C
T
SETBP1
c.1879C>T
p.Arg627Cys
rs146193261