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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr2
179447848
T
C
synonymous_variant
LOW
TTN
c.65682A>G
chr2
179444939
C
T
missense_variant
MODERATE
TTN
c.67075G>A
chr2
179444768
C
G
missense_variant
MODERATE
TTN
c.67246G>C
chr2
179444382
A
C
synonymous_variant
LOW
TTN
c.67542T>G
chr2
179436020
G
A
missense_variant
MODERATE
TTN
c.74839C>T
chr2
179434120
G
A
missense_variant
MODERATE
TTN
c.76739C>T
chr2
179430997
G
A
missense_variant
MODERATE
TTN
c.79862C>T
chr2
179427536
T
C
missense_variant
MODERATE
TTN
c.83323A>G
chr2
179427186
A
G
synonymous_variant
LOW
TTN
c.83673T>C
chr2
179421694
A
G
missense_variant
MODERATE
TTN
c.88187T>C
chr2
179413110
G
A
synonymous_variant
LOW
TTN
c.93243C>T
chr2
179406191
C
T
missense_variant
MODERATE
TTN
c.97613G>A
chr2
179406003
C
A
splice_region_variant&intron_variant
LOW
TTN
c.97795+6G>T
chr2
179398823
G
A
synonymous_variant
LOW
TTN
c.102519C>T
chr2
179397561
C
T
missense_variant
MODERATE
TTN
c.103781G>A
chr2
179396354
G
A
synonymous_variant
LOW
TTN
c.104988C>T
chr2
179395958
T
C
synonymous_variant
LOW
TTN
c.105384A>G
chr2
179391639
C
CT
3_prime_UTR_variant
MODIFIER
TTN
c.*99dupA
chr2
175622788
G
A
intron_variant
MODIFIER
CHRNA1
c.235-40C>T
chr2
175614908
CAAA
CA
intron_variant
MODIFIER
CHRNA1
c.854-14_854-13delTT