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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr15
49083577
C
T
splice_region_variant&intron_variant
LOW
CEP152
c.833-4G>A
chr15
49074539
C
T
intron_variant
MODIFIER
CEP152
c.1322-112G>A
chr15
49059673
C
T
intron_variant
MODIFIER
CEP152
c.2019-13G>A
chr15
49054952
C
A
intron_variant
MODIFIER
CEP152
c.2281-83G>T
chr15
49044538
C
G
splice_region_variant&intron_variant
LOW
CEP152
c.3466+8G>C
chr15
48937339
G
A
intron_variant
MODIFIER
FBN1
c.-181-192C>T
chr15
48903126
A
G
intron_variant
MODIFIER
FBN1
c.248-103T>C
chr15
48807637
C
T
missense_variant
MODERATE
FBN1
c.1415G>A
chr15
48779506
T
C
splice_region_variant&intron_variant
LOW
FBN1
c.3463+3A>G
chr15
48760545
T
C
intron_variant
MODIFIER
FBN1
c.4582+64A>G
chr15
48749040
C
CGTGT
intron_variant
MODIFIER
FBN1
c.5297-82_5297-81insACAC
chr15
48736684
A
T
intron_variant
MODIFIER
FBN1
c.6037+54T>A
chr15
48729648
T
C
intron_variant
MODIFIER
FBN1
c.6314-64A>G
chr15
48726933
C
G
intron_variant
MODIFIER
FBN1
c.6497-23G>C
chr15
48720526
G
C
intron_variant
MODIFIER
FBN1
c.6997+17C>G
chr15
48720271
C
T
intron_variant
MODIFIER
FBN1
c.6997+272G>A
chr15
48713996
G
T
intron_variant
MODIFIER
FBN1
c.7571-113C>A
chr15
48702873
G
A
3_prime_UTR_variant
MODIFIER
FBN1
c.*314C>T
chr15
48702457
C
A
3_prime_UTR_variant
MODIFIER
FBN1
c.*730G>T
chr15
48701612
A
C
3_prime_UTR_variant
MODIFIER
FBN1
c.*1575T>G