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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
228544792
C
A
intron_variant
MODIFIER
OBSCN
c.21532+4029C>A
chr1
228543800
C
T
intron_variant
MODIFIER
OBSCN
c.21532+3037C>T
chr1
228540542
G
A
intron_variant
MODIFIER
OBSCN
c.21421-110G>A
chr1
228539300
G
A
intron_variant
MODIFIER
OBSCN
c.21420+149G>A
chr1
228538968
C
T
intron_variant
MODIFIER
OBSCN
c.21291-54C>T
chr1
228538470
C
G
intron_variant
MODIFIER
OBSCN
c.21188-72C>G
chr1
228529429
A
AGACGGCTCAGCCAGCCTGTGGCATGG
intron_variant
MODIFIER
OBSCN
c.20905+114_20905+115insGACGGCTCAGCCAGCCTGTGGCATGG
chr1
228529129
C
A
intron_variant
MODIFIER
OBSCN
c.20728-9C>A
chr1
228528563
C
G
missense_variant
MODERATE
OBSCN
c.20542C>G
chr1
228526742
CCA
C
intron_variant
MODIFIER
OBSCN
c.20129+16_20129+17delCA
chr1
228526665
T
C
synonymous_variant
LOW
OBSCN
c.20067T>C
chr1
228525898
C
G
intron_variant
MODIFIER
OBSCN
c.19872+53C>G
chr1
228523618
G
A
intron_variant
MODIFIER
OBSCN
c.19337+66G>A
chr1
228523447
T
C
intron_variant
MODIFIER
OBSCN
c.19277-45T>C
chr1
228523442
T
C
intron_variant
MODIFIER
OBSCN
c.19277-50T>C
chr1
228523412
G
A
intron_variant
MODIFIER
OBSCN
c.19277-80G>A
chr1
228522029
TA
T
intron_variant
MODIFIER
OBSCN
c.18926-183delA
chr1
228509589
G
A
missense_variant
MODERATE
OBSCN
c.17918G>A
chr1
228509427
A
G
missense_variant
MODERATE
OBSCN
c.17756A>G
chr1
228505727
C
T
missense_variant
MODERATE
OBSCN
c.16855C>T