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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
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
228461129
A
G
missense_variant
OBSCN
c.6143A>G
p.His2048Arg
chr1
228451826
C
T
missense_variant
OBSCN
c.5147C>T
p.Ala1716Val
chr1
228444565
T
A
missense_variant
OBSCN
c.4799T>A
p.Val1600Asp
chr1
228432047
G
T
missense_variant
OBSCN
c.3532G>T
p.Ala1178Ser
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
103379918
G
A
missense_variant
COL11A1
c.4004C>T
p.Pro1335Leu
chr1
103354138
A
G
missense_variant
COL11A1
c.4639T>C
p.Ser1547Pro
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
22207235
T
C
missense_variant
HSPG2
c.1915A>G
p.Met639Val
chr1
22206649
T
C
missense_variant
HSPG2
c.2297A>G
p.Asn766Ser
chr1
22191454
G
A
missense_variant
HSPG2
c.4511C>T
p.Ala1504Val
chr1
22176542
G
A
missense_variant
HSPG2
c.7441C>T
p.Arg2481Trp
chr1
5935162
A
T
splice_acceptor_variant&intron_variant
NPHP4
c.2818-2T>A
.