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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr2
179429004
G
A
synonymous_variant
LOW
TTN
c.81855C>T
chr2
179427536
T
C
missense_variant
MODERATE
TTN
c.83323A>G
chr2
179427186
A
G
synonymous_variant
LOW
TTN
c.83673T>C
chr2
179423099
A
G
synonymous_variant
LOW
TTN
c.87087T>C
chr2
179421694
A
G
missense_variant
MODERATE
TTN
c.88187T>C
chr2
179414705
A
T
splice_region_variant&intron_variant
LOW
TTN
c.91852+8T>A
chr2
179414017
C
G
missense_variant
MODERATE
TTN
c.92336G>C
chr2
179411011
T
C
missense_variant
MODERATE
TTN
c.95047A>G
chr2
179406003
C
A
splice_region_variant&intron_variant
LOW
TTN
c.97795+6G>T
chr2
179401740
C
T
missense_variant
MODERATE
TTN
c.100096G>A
chr2
179395958
T
C
synonymous_variant
LOW
TTN
c.105384A>G
chr2
179391639
C
CT
3_prime_UTR_variant
MODIFIER
TTN
c.*99dupA
chr2
176957822
G
A
synonymous_variant
LOW
HOXD13
c.204G>A
chr2
175629021
C
A
intron_variant
MODIFIER
CHRNA1
c.43+59G>T
chr2
175624107
GA
G
splice_region_variant&intron_variant
LOW
CHRNA1
c.190-5delT
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
chr2
175614908
CAAA
C
intron_variant
MODIFIER
CHRNA1
c.854-14_854-12delTTT
chr2
175613600
T
C
intron_variant
MODIFIER
CHRNA1
c.1078-53A>G
chr2
175613059
A
C
intron_variant
MODIFIER
CHRNA1
c.1318-76T>G