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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
155880573
C
G
RIT1
c.31G>C
p.Glu11Gln
rs493446
chr1
120611964
G
C
NOTCH2
c.57C>G
p.Cys19Trp
rs11810554
chr1
120572572
C
T
NOTCH2
c.112G>A
p.Glu38Lys
rs61788901
chr1
120572547
T
C
NOTCH2
c.137A>G
p.Asn46Ser
rs61788900
chr1
103379918
G
A
COL11A1
c.4004C>T
p.Pro1335Leu
rs3753841
chr1
103354138
A
G
COL11A1
c.4639T>C
p.Ser1547Pro
rs1676486
chr1
55529187
G
A
PCSK9
c.2009G>A
p.Gly670Glu
rs505151
chr1
55524237
G
A
PCSK9
c.1420G>A
p.Val474Ile
rs562556
chr1
22207235
T
C
HSPG2
c.1915A>G
p.Met639Val
rs1874792
chr1
22206649
T
C
HSPG2
c.2297A>G
p.Asn766Ser
rs989994
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
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