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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
228452032
G
A
OBSCN
c.5353G>A
p.Ala1785Thr
rs55706639
chr1
228451826
C
T
OBSCN
c.5147C>T
p.Ala1716Val
rs453140
chr1
228444565
T
A
OBSCN
c.4799T>A
p.Val1600Asp
rs7532342
chr1
228402121
A
G
OBSCN
c.1505A>G
p.Gln502Arg
rs1771487
chr1
228399851
G
A
OBSCN
c.367G>A
p.Glu123Lys
rs377006803
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
chr1
3313127
C
A
PRDM16
c.646C>A
p.Pro216Thr
rs368140002
chr22
20920813
A
ACAG
MED15
c.784_786dupCAG
p.Gln262dup
rs361923