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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr2
189854791
G
A
intron_variant
MODIFIER
COL3A1
c.691-31G>A
chr2
189851887
C
T
intron_variant
MODIFIER
COL3A1
c.528+22C>T
chr2
189849773
A
G
intron_variant
MODIFIER
COL3A1
c.282+85A>G
chr2
179667090
C
T
intron_variant
MODIFIER
TTN
c.92-22G>A
chr2
179647546
A
G
synonymous_variant
LOW
TTN
c.3087T>C
chr2
179644304
G
A
intron_variant
MODIFIER
TTN
c.3730-115C>T
chr2
179644160
T
C
synonymous_variant
LOW
TTN
c.3759A>G
chr2
179644035
G
A
missense_variant
MODERATE
TTN
c.3884C>T
chr2
179643934
A
G
intron_variant
MODIFIER
TTN
c.3963+22T>C
chr2
179643886
A
G
intron_variant
MODIFIER
TTN
c.3964-41T>C
chr2
179642425
G
A
splice_region_variant&intron_variant
LOW
TTN
c.4480+6C>T
chr2
179641975
C
T
missense_variant
MODERATE
TTN
c.4715G>A
chr2
179637861
C
G
missense_variant
MODERATE
TTN
c.7830G>C
chr2
179635882
C
T
intron_variant
MODIFIER
TTN
c.8116+56G>A
chr2
179635850
T
C
intron_variant
MODIFIER
TTN
c.8116+88A>G
chr2
179634936
C
T
missense_variant
MODERATE
TTN
c.8492G>A
chr2
179634376
GTA
G
intron_variant
MODIFIER
TTN
c.8902+28_8902+29delTA
chr2
179631362
A
C
intron_variant
MODIFIER
TTN
c.9472-23T>G
chr2
179631214
T
C
synonymous_variant
LOW
TTN
c.9597A>G
chr2
179629363
T
C
synonymous_variant
LOW
TTN
c.9879A>G