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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
228468069
G
A
missense_variant
OBSCN
c.9140G>A
p.Ser3047Asn
chr1
228464316
C
G
missense_variant
OBSCN
c.7511C>G
p.Pro2504Arg
chr1
228464276
T
C
missense_variant
OBSCN
c.7471T>C
p.Phe2491Leu
chr1
228464248
T
G
missense_variant
OBSCN
c.7443T>G
p.Asp2481Glu
chr1
228462377
G
A
missense_variant
OBSCN
c.6913G>A
p.Val2305Met
chr1
228462332
G
A
missense_variant
OBSCN
c.6868G>A
p.Glu2290Lys
chr1
228461615
G
A
missense_variant
OBSCN
c.6407G>A
p.Arg2136His
chr1
228461129
A
G
missense_variant
OBSCN
c.6143A>G
p.His2048Arg
chr1
228459677
C
T
missense_variant
OBSCN
c.5741C>T
p.Pro1914Leu
chr1
228444565
T
A
missense_variant
OBSCN
c.4799T>A
p.Val1600Asp
chr1
228431034
A
G
missense_variant
OBSCN
c.3356A>G
p.Lys1119Arg
chr1
228402121
A
G
missense_variant
OBSCN
c.1505A>G
p.Gln502Arg
chr1
155880573
C
G
missense_variant
RIT1
c.31G>C
p.Glu11Gln
chr1
120611964
G
C
missense_variant
NOTCH2
c.57C>G
p.Cys19Trp
chr1
120572572
C
T
missense_variant
NOTCH2
c.112G>A
p.Glu38Lys
chr1
120572547
T
C
missense_variant
NOTCH2
c.137A>G
p.Asn46Ser
chr1
103444970
A
T
missense_variant
COL11A1
c.2614T>A
p.Phe872Ile
chr1
55529187
G
A
missense_variant
PCSK9
c.2009G>A
p.Gly670Glu
chr1
55524237
G
A
missense_variant
PCSK9
c.1420G>A
p.Val474Ile
chr1
55505668
C
T
missense_variant
PCSK9
c.158C>T
p.Ala53Val