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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
228559994
C
T
OBSCN
c.24386C>T
p.Ala8129Val
rs500049
chr1
228550426
C
T
OBSCN
c.21682C>T
p.Pro7228Ser
rs35155240
chr1
228548197
G
A
OBSCN
c.19604G>A
p.Arg6535His
rs10158354
chr1
228528563
C
G
OBSCN
c.20542C>G
p.Gln6848Glu
rs1188710
chr1
228520973
C
G
OBSCN
c.18676C>G
p.Leu6226Val
rs369909
chr1
228509427
A
G
OBSCN
c.17756A>G
p.Asp5919Gly
rs373610
chr1
228505727
C
T
OBSCN
c.16855C>T
p.Arg5619Cys
rs3795800
chr1
228505668
C
G
OBSCN
c.16796C>G
p.Ser5599Cys
rs1188729
chr1
228505204
G
A
OBSCN
c.16472G>A
p.Arg5491His
rs4653942
chr1
228504670
C
T
OBSCN
c.16417C>T
p.Arg5473Trp
rs11810627
chr1
228504472
T
C
OBSCN
c.16219T>C
p.Cys5407Arg
rs1188732
chr1
228503677
A
G
OBSCN
c.16013A>G
p.His5338Arg
rs1150912
chr1
228494790
G
A
OBSCN
c.14986G>A
p.Gly4996Arg
rs435776
chr1
228476367
A
T
OBSCN
c.11404A>T
p.Ser3802Cys
rs3795790
chr1
228476366
G
T
OBSCN
c.11403G>T
p.Glu3801Asp
rs3795789
chr1
228475848
G
A
OBSCN
c.11185G>A
p.Ala3729Thr
rs437129
chr1
228469904
G
T
OBSCN
c.9755G>T
p.Arg3252Ile
rs3795787
chr1
228469903
A
T
OBSCN
c.9754A>T
p.Arg3252*
rs3795786
chr1
228469870
C
T
OBSCN
c.9721C>T
p.Arg3241Trp
rs3795785
chr1
228468458
G
A
OBSCN
c.9445G>A
p.Val3149Met
rs1188697