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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr2
179499530
T
C
missense_variant
MODERATE
TTN
c.42071A>G
chr2
179485599
A
G
synonymous_variant
LOW
TTN
c.45738T>C
chr2
179483430
G
A
missense_variant
MODERATE
TTN
c.46847C>T
chr2
179474466
C
T
synonymous_variant
LOW
TTN
c.51684G>A
chr2
179472693
A
G
synonymous_variant
LOW
TTN
c.52821T>C
chr2
179472292
T
A
missense_variant
MODERATE
TTN
c.53123A>T
chr2
179470278
C
T
missense_variant
MODERATE
TTN
c.53744G>A
chr2
179464527
T
C
missense_variant
MODERATE
TTN
c.56101A>G
chr2
179455207
T
C
synonymous_variant
LOW
TTN
c.61245A>G
chr2
179454394
A
G
synonymous_variant
LOW
TTN
c.62058T>C
chr2
179451420
G
A
missense_variant
MODERATE
TTN
c.64208C>T
chr2
179447848
T
C
synonymous_variant
LOW
TTN
c.65682A>G
chr2
179444768
C
G
missense_variant
MODERATE
TTN
c.67246G>C
chr2
179444289
A
G
splice_region_variant&synonymous_variant
LOW
TTN
c.62712T>C
chr2
179440728
T
C
synonymous_variant
LOW
TTN
c.70131A>G
chr2
179434139
A
G
missense_variant
MODERATE
TTN
c.76720T>C
chr2
179433580
T
C
missense_variant
MODERATE
TTN
c.77279A>G
chr2
179433221
T
C
missense_variant
MODERATE
TTN
c.77638A>G
chr2
179431594
A
G
missense_variant
MODERATE
TTN
c.79265T>C
chr2
179430060
G
T
synonymous_variant
LOW
TTN
c.80799C>A