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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr5
127855152
GTTAAA
G
intron_variant
MODIFIER
FBN2
c.533-96_533-92delTTTAA
chr5
127701944
ATAAT
A
intron_variant
MODIFIER
FBN2
c.2302+122_2302+125delATTA
chr5
127685135
C
T
missense_variant
MODERATE
FBN2
c.2893G>A
chr5
127671924
A
G
intron_variant
MODIFIER
FBN2
c.3599-119T>C
chr5
127640861
A
G
intron_variant
MODIFIER
FBN2
c.5675-87T>C
chr5
127640783
G
A
intron_variant
MODIFIER
FBN2
c.5675-9C>T
chr5
127625559
T
C
intron_variant
MODIFIER
FBN2
c.6511+15A>G
chr5
127622983
C
T
intron_variant
MODIFIER
FBN2
c.6880+17G>A
chr5
127614472
A
G
synonymous_variant
LOW
FBN2
c.7200T>C
chr5
127613791
C
G
intron_variant
MODIFIER
FBN2
c.7346-94G>C
chr5
94876616
T
G
intron_variant
MODIFIER
TTC37
c.403-82A>C
chr5
88045029
C
A
intron_variant
MODIFIER
MEF2C
c.644-95G>T
chr5
82875800
C
T
splice_region_variant&synonymous_variant
LOW
VCAN
c.9882C>T
chr5
82849120
T
A
intron_variant
MODIFIER
VCAN
c.9494-63T>A
chr5
82843711
T
TATC
intron_variant
MODIFIER
VCAN
c.9380-79_9380-78insATC
chr5
82835724
T
A
missense_variant
MODERATE
VCAN
c.6902T>A
chr5
82835545
A
G
synonymous_variant
LOW
VCAN
c.6723A>G
chr5
82834630
T
C
synonymous_variant
LOW
VCAN
c.5808T>C
chr5
82833584
C
A
missense_variant
MODERATE
VCAN
c.4762C>A
chr5
82833391
A
G
synonymous_variant
LOW
VCAN
c.4569A>G