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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
228550426
C
T
missense_variant
MODERATE
OBSCN
c.21682C>T
chr1
228548197
G
A
missense_variant
MODERATE
OBSCN
c.19604G>A
chr1
228547913
G
A
synonymous_variant
LOW
OBSCN
c.19320G>A
chr1
228547901
C
T
synonymous_variant
LOW
OBSCN
c.19308C>T
chr1
228547827
G
C
missense_variant
MODERATE
OBSCN
c.19234G>C
chr1
228547397
G
A
synonymous_variant
LOW
OBSCN
c.18804G>A
chr1
228547256
G
A
intron_variant
MODIFIER
OBSCN
c.21533-3021G>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
228538470
C
G
intron_variant
MODIFIER
OBSCN
c.21188-72C>G
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
C
CCACACACACACA
intron_variant
MODIFIER
OBSCN
c.20129+15_20129+16insCACACACACACA
chr1
228525898
C
G
intron_variant
MODIFIER
OBSCN
c.19872+53C>G
chr1
228524608
A
G
intron_variant
MODIFIER
OBSCN
c.19409-97A>G
chr1
228523594
A
G
intron_variant
MODIFIER
OBSCN
c.19337+42A>G
chr1
228523447
T
C
intron_variant
MODIFIER
OBSCN
c.19277-45T>C
chr1
228522087
G
A
intron_variant
MODIFIER
OBSCN
c.18926-126G>A
chr1
228522029
TA
T
intron_variant
MODIFIER
OBSCN
c.18926-183delA
chr1
228509427
A
G
missense_variant
MODERATE
OBSCN
c.17756A>G