Page size
CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr2
11359120
G
T
ROCK2
c.1292C>A
p.Thr431Asn
rs2230774
chr1
236910983
G
A
ACTN2
c.1423G>A
p.Asp475Asn
rs80257412
chr1
236899899
TC
T
ACTN2
c.95delC
p.Pro32fs
rs11355106
chr1
228559994
C
T
OBSCN
c.24386C>T
p.Ala8129Val
rs500049
chr1
228550429
C
T
OBSCN
c.21685C>T
p.Pro7229Ser
rs11585049
chr1
228509427
A
G
OBSCN
c.17756A>G
p.Asp5919Gly
rs373610
chr1
228505739
G
A
OBSCN
c.16867G>A
p.Gly5623Ser
rs3795801
chr1
228505668
C
G
OBSCN
c.16796C>G
p.Ser5599Cys
rs1188729
chr1
228505204
G
A
OBSCN
c.16472G>A
p.Arg5491His
rs4653942
chr1
228504591
C
A
OBSCN
c.16338C>A
p.His5446Gln
rs61825301
chr1
228504472
T
C
OBSCN
c.16219T>C
p.Cys5407Arg
rs1188732
chr1
228503677
A
G
OBSCN
c.16013A>G
p.His5338Arg
rs1150912
chr1
228491633
G
A
OBSCN
c.13996G>A
p.Val4666Ile
rs11584418
chr1
228486404
C
T
OBSCN
c.13196C>T
p.Thr4399Met
rs56021350
chr1
228465346
A
G
OBSCN
c.8020A>G
p.Asn2674Asp
rs493945
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
228444565
T
A
OBSCN
c.4799T>A
p.Val1600Asp
rs7532342
chr1
228412228
G
A
OBSCN
c.2998G>A
p.Ala1000Thr
rs1757153