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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
228505699
T
C
synonymous_variant
LOW
OBSCN
c.16827T>C
chr1
228505668
C
G
missense_variant
MODERATE
OBSCN
c.16796C>G
chr1
228505204
G
A
missense_variant
MODERATE
OBSCN
c.16472G>A
chr1
228504701
G
GCTCC
intron_variant
MODIFIER
OBSCN
c.16432+16_16432+17insCTCC
chr1
228504472
T
C
missense_variant
MODERATE
OBSCN
c.16219T>C
chr1
228503677
A
G
missense_variant
MODERATE
OBSCN
c.16013A>G
chr1
228497286
C
A
intron_variant
MODIFIER
OBSCN
c.15883+26C>A
chr1
228497053
A
G
intron_variant
MODIFIER
OBSCN
c.15807+57A>G
chr1
228496135
G
A
intron_variant
MODIFIER
OBSCN
c.15610+51G>A
chr1
228495696
T
C
intron_variant
MODIFIER
OBSCN
c.15338-116T>C
chr1
228494696
G
A
synonymous_variant
LOW
OBSCN
c.14892G>A
chr1
228494382
T
C
intron_variant
MODIFIER
OBSCN
c.14797+43T>C
chr1
228491298
C
T
intron_variant
MODIFIER
OBSCN
c.13739-78C>T
chr1
228482285
T
C
intron_variant
MODIFIER
OBSCN
c.12682+169T>C
chr1
228480964
A
G
intron_variant
MODIFIER
OBSCN
c.12155-90A>G
chr1
228480282
A
G
synonymous_variant
LOW
OBSCN
c.11949A>G
chr1
228476414
G
A
synonymous_variant
LOW
OBSCN
c.11451G>A
chr1
228476367
A
T
missense_variant
MODERATE
OBSCN
c.11404A>T
chr1
228476366
G
T
missense_variant
MODERATE
OBSCN
c.11403G>T
chr1
228469904
G
T
missense_variant&splice_region_variant
MODERATE
OBSCN
c.9755G>T