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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
228467711
G
A
OBSCN
c.8873G>A
p.Arg2958Gln
rs3795783
chr1
228464276
T
C
OBSCN
c.7471T>C
p.Phe2491Leu
rs1188722
chr1
228464248
T
G
OBSCN
c.7443T>G
p.Asp2481Glu
rs1188721
chr1
228461129
A
G
OBSCN
c.6143A>G
p.His2048Arg
rs1188724
chr1
228456232
G
T
OBSCN
c.5415G>T
p.Glu1805Asp
.
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