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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
228469903
A
T
stop_gained
HIGH
OBSCN
c.9754A>T
chr1
228469870
C
T
missense_variant
MODERATE
OBSCN
c.9721C>T
chr1
228468244
G
A
synonymous_variant
LOW
OBSCN
c.9231G>A
chr1
228467711
G
A
missense_variant
MODERATE
OBSCN
c.8873G>A
chr1
228467087
C
T
synonymous_variant
LOW
OBSCN
c.8625C>T
chr1
228465403
G
T
intron_variant
MODIFIER
OBSCN
c.8041+36G>T
chr1
228465370
T
G
splice_region_variant&intron_variant
LOW
OBSCN
c.8041+3T>G
chr1
228465346
A
G
missense_variant
MODERATE
OBSCN
c.8020A>G
chr1
228464842
C
G
intron_variant
MODIFIER
OBSCN
c.7726-19C>G
chr1
228464276
T
C
missense_variant
MODERATE
OBSCN
c.7471T>C
chr1
228464248
T
G
missense_variant
MODERATE
OBSCN
c.7443T>G
chr1
228463433
C
T
intron_variant
MODIFIER
OBSCN
c.7079-28C>T
chr1
228463292
G
A
intron_variant
MODIFIER
OBSCN
c.7079-169G>A
chr1
228461408
A
AG
intron_variant
MODIFIER
OBSCN
c.6263-63_6263-62insG
chr1
228461129
A
G
missense_variant
MODERATE
OBSCN
c.6143A>G
chr1
228456147
T
C
intron_variant
MODIFIER
OBSCN
c.5414-84T>C
chr1
228451826
C
T
missense_variant
MODERATE
OBSCN
c.5147C>T
chr1
228444741
C
T
intron_variant
MODIFIER
OBSCN
c.4861+114C>T
chr1
228444565
T
A
missense_variant
MODERATE
OBSCN
c.4799T>A
chr1
228444318
T
G
intron_variant
MODIFIER
OBSCN
c.4586-34T>G