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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
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
179635882
C
T
intron_variant
MODIFIER
TTN
c.8116+56G>A
chr2
179634391
TA
T
intron_variant
MODIFIER
TTN
c.8902+14delT
chr2
179634389
TA
T
intron_variant
MODIFIER
TTN
c.8902+16delT
chr2
179634376
GTA
G
intron_variant
MODIFIER
TTN
c.8902+28_8902+29delTA
chr2
179633298
G
T
intron_variant
MODIFIER
TTN
c.9163+102C>A
chr2
179632710
T
C
intron_variant
MODIFIER
TTN
c.9305+31A>G
chr2
179629461
C
T
missense_variant
MODERATE
TTN
c.9781G>A
chr2
179629363
T
C
synonymous_variant
LOW
TTN
c.9879A>G
chr2
179623939
T
C
intron_variant
MODIFIER
TTN
c.10115-40A>G
chr2
179623758
C
T
missense_variant
MODERATE
TTN
c.10256G>A
chr2
179621477
C
T
missense_variant
MODERATE
TTN
c.10726G>A
chr2
179620951
C
T
missense_variant&splice_region_variant
MODERATE
TTN
c.11252G>A
chr2
179618790
G
A
intron_variant
MODIFIER
TTN
c.11255-883C>T
chr2
179618019
T
A
intron_variant
MODIFIER
TTN
c.11255-112A>T
chr2
179616770
GA
G
splice_region_variant&intron_variant
LOW
TTN
c.10361-5delT
chr2
179615994
T
C
synonymous_variant
LOW
TTN
c.11133A>G
chr2
179615931
C
G
missense_variant
MODERATE
TTN
c.11196G>C