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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
228444565
T
A
OBSCN
c.4799T>A
p.Val1600Asp
rs7532342
chr1
228402121
A
G
OBSCN
c.1505A>G
p.Gln502Arg
rs1771487
chr1
209791929
G
T
LAMB3
c.2777C>A
p.Ala926Asp
rs2076222
chr1
201195119
C
T
IGFN1
c.10654C>T
p.His3552Tyr
rs3738270
chr1
120612002
CGG
C
NOTCH2
c.17_18delCC
p.Pro6fs
rs372504208;rs864309621
chr1
103379918
G
A
COL11A1
c.4004C>T
p.Pro1335Leu
rs3753841
chr1
55524197
A
G
PCSK9
c.1380A>G
.
rs540796
chr1
21546461
C
T
ECE1
c.2300G>A
.
.
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