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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr20
50407502
A
C
SALL4
c.1520T>G
p.Leu507Arg
rs6126344
chr20
31022959
T
C
ASXL1
c.2444T>C
p.Leu815Pro
rs6058694
chr20
10639284
C
T
JAG1
c.526G>A
p.Val176Ile
rs199674138
chr20
10386059
G
A
MKKS
c.1549C>T
p.Arg517Cys
rs1547
chr20
10386013
C
A
MKKS
c.1595G>T
p.Gly532Val
rs1545
chr20
6759115
A
T
BMP2
c.570A>T
p.Arg190Ser
rs235768
chr19
55667616
G
A
TNNI3
c.232C>T
p.Arg78Cys
rs3729712
chr19
39994711
T
C
DLL3
c.653T>C
p.Leu218Pro
rs1110627
chr19
39993560
T
G
DLL3
c.515T>G
p.Phe172Cys
rs8107127
chr19
38954099
A
G
RYR1
c.2614A>G
p.Lys872Glu
.
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
18980054
T
TGCC
GDF1
c.468_470dupGGC
p.Ala157dup
rs571387097
chr19
18273047
T
C
PIK3R2
c.937T>C
p.Ser313Pro
rs1011320
chr19
11358799
G
A
DOCK6
c.749C>T
p.Pro250Leu
rs12978266
chr19
11319636
G
A
DOCK6
c.4895C>T
p.Ala1632Val
rs117328686
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