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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr22
20920813
A
ACAG
MED15
c.784_786dupCAG
p.Gln262dup
rs361923
chr22
19754091
A
C
TBX1
c.1189A>C
p.Asn397His
rs72646967
chr21
47552209
G
A
COL6A2
c.2803G>A
p.Gly935Arg
rs35548026
chr21
47545768
G
A
COL6A2
c.2039G>A
p.Arg680His
rs1042917
chr21
47538960
G
A
COL6A2
c.1196G>A
p.Ser399Asn
rs2839110
chr21
47423389
G
A
COL6A1
c.2549G>A
p.Arg850His
rs1053312
chr21
47423040
A
G
COL6A1
c.2441A>G
p.Lys814Arg
rs11553518
chr20
50407502
A
C
SALL4
c.1520T>G
p.Leu507Arg
rs6126344
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