Page size
CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr15
48812828
T
C
intron_variant
MODIFIER
FBN1
c.1147+28A>G
chr15
48807637
C
T
missense_variant
MODERATE
FBN1
c.1415G>A
chr15
48797424
C
A
intron_variant
MODIFIER
FBN1
c.1838-80G>T
chr15
48797307
A
G
synonymous_variant
LOW
FBN1
c.1875T>C
chr15
48789634
T
C
intron_variant
MODIFIER
FBN1
c.2168-46A>G
chr15
48779530
G
C
missense_variant
MODERATE
FBN1
c.3442C>G
chr15
48779506
T
C
splice_region_variant&intron_variant
LOW
FBN1
c.3463+3A>G
chr15
48779402
C
T
splice_region_variant&intron_variant
LOW
FBN1
c.3464-5G>A
chr15
48779231
GTAAAA
G
intron_variant
MODIFIER
FBN1
c.3589+36_3589+40delTTTTA
chr15
48779200
AATAAC
A
intron_variant
MODIFIER
FBN1
c.3589+67_3589+71delGTTAT
chr15
48764942
A
G
intron_variant
MODIFIER
FBN1
c.4211-69T>C
chr15
48764655
TA
T
intron_variant
MODIFIER
FBN1
c.4336+92delT
chr15
48760545
T
C
intron_variant
MODIFIER
FBN1
c.4582+64A>G
chr15
48758100
T
G
intron_variant
MODIFIER
FBN1
c.4748-45A>C
chr15
48749040
C
CGTGT
intron_variant
MODIFIER
FBN1
c.5297-82_5297-81insACAC
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