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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
22191454
G
A
HSPG2
c.4511C>T
p.Ala1504Val
rs897471
chr1
5935162
A
T
NPHP4
c.2818-2T>A
.
rs1287637
chr1
3328358
T
C
PRDM16
c.1597T>C
p.Ser533Pro
rs870124
chr1
3313127
C
A
PRDM16
c.646C>A
p.Pro216Thr
rs368140002
chrX
76937963
G
C
ATRX
c.2785C>G
p.Gln929Glu
rs3088074
chrX
44929077
C
A
KDM6A
c.2333C>A
p.Thr778Lys
rs2230018
chr22
20920813
ACAG
A
MED15
c.784_786delCAG
p.Gln262del
.
chr22
19754091
A
C
TBX1
c.1189A>C
p.Asn397His
rs72646967
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
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