Page size
CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
236900018
G
A
intron_variant
MODIFIER
ACTN2
c.784-404G>A
chr1
236899899
TC
T
frameshift_variant
HIGH
ACTN2
c.95delC
chr1
236899042
G
A
intron_variant
MODIFIER
ACTN2
c.783+22G>A
chr1
236897633
A
G
intron_variant
MODIFIER
ACTN2
c.698-1302A>G
chr1
236894647
G
A
intron_variant
MODIFIER
ACTN2
c.697+33G>A
chr1
236883564
G
A
intron_variant
MODIFIER
ACTN2
c.448+73G>A
chr1
236883421
C
T
synonymous_variant
LOW
ACTN2
c.378C>T
chr1
236882303
T
C
synonymous_variant
LOW
ACTN2
c.351T>C
chr1
236882110
G
A
intron_variant
MODIFIER
ACTN2
c.242-84G>A
chr1
236881403
C
T
intron_variant
MODIFIER
ACTN2
c.241+131C>T
chr1
228564504
G
A
synonymous_variant
LOW
OBSCN
c.25839G>A
chr1
228560700
T
C
synonymous_variant
LOW
OBSCN
c.25092T>C
chr1
228560139
A
G
synonymous_variant
LOW
OBSCN
c.24531A>G
chr1
228559994
C
T
missense_variant
MODERATE
OBSCN
c.24386C>T
chr1
228558807
C
T
synonymous_variant
LOW
OBSCN
c.23199C>T
chr1
228556788
C
T
intron_variant
MODIFIER
OBSCN
c.22812-49C>T
chr1
228552864
C
T
intron_variant
MODIFIER
OBSCN
c.21809+86C>T
chr1
228552610
G
A
intron_variant
MODIFIER
OBSCN
c.21713-72G>A
chr1
228552571
T
C
intron_variant
MODIFIER
OBSCN
c.21713-111T>C
chr1
228550492
C
CT
intron_variant
MODIFIER
OBSCN
c.21712+36_21712+37insT