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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr2
179623939
T
C
intron_variant
MODIFIER
TTN
c.10115-40A>G
chr2
179621477
C
T
missense_variant
MODERATE
TTN
c.10726G>A
chr2
179618790
G
A
intron_variant
MODIFIER
TTN
c.11255-883C>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
chr2
179614952
A
G
synonymous_variant
LOW
TTN
c.12175T>C
chr2
179613264
C
T
missense_variant
MODERATE
TTN
c.13863G>A
chr2
179611711
C
A
missense_variant
MODERATE
TTN
c.15416G>T
chr2
179606538
G
A
missense_variant
MODERATE
TTN
c.11422C>T
chr2
179605705
A
G
synonymous_variant
LOW
TTN
c.12255T>C
chr2
179605180
C
A
synonymous_variant
LOW
TTN
c.12780G>T
chr2
179604742
G
A
synonymous_variant
LOW
TTN
c.13218C>T
chr2
179604366
T
G
missense_variant
MODERATE
TTN
c.13594A>C
chr2
179604160
T
G
missense_variant
MODERATE
TTN
c.13800A>C
chr2
179600648
C
T
missense_variant
MODERATE
TTN
c.14525G>A
chr2
179600563
G
A
synonymous_variant
LOW
TTN
c.14610C>T
chr2
179597847
A
G
splice_region_variant&synonymous_variant
LOW
TTN
c.16056T>C
chr2
179595577
GT
G
intron_variant
MODIFIER
TTN
c.17741-59delA
chr2
179595117
C
G
intron_variant
MODIFIER
TTN
c.18029-19G>C