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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
236897867
T
C
intron_variant
MODIFIER
ACTN2
c.698-1068T>C
chr1
236897633
A
G
intron_variant
MODIFIER
ACTN2
c.698-1302A>G
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
228565445
C
A
intron_variant
MODIFIER
OBSCN
c.26374+32C>A
chr1
228564884
G
A
missense_variant
MODERATE
OBSCN
c.26042G>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
228556788
C
T
intron_variant
MODIFIER
OBSCN
c.22812-49C>T
chr1
228556403
C
T
intron_variant
MODIFIER
OBSCN
c.22639-20C>T
chr1
228553675
C
T
intron_variant
MODIFIER
OBSCN
c.21935-100C>T
chr1
228552571
T
C
intron_variant
MODIFIER
OBSCN
c.21713-111T>C
chr1
228550426
C
T
missense_variant
MODERATE
OBSCN
c.21682C>T
chr1
228548197
G
A
missense_variant
MODERATE
OBSCN
c.19604G>A
chr1
228547901
C
T
synonymous_variant
LOW
OBSCN
c.19308C>T
chr1
228547256
G
A
intron_variant
MODIFIER
OBSCN
c.21533-3021G>A