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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr5
127614472
A
G
synonymous_variant
LOW
FBN2
c.7200T>C
chr5
127613791
C
G
intron_variant
MODIFIER
FBN2
c.7346-94G>C
chr5
94849142
C
T
intron_variant
MODIFIER
TTC37
c.2778+133G>A
chr5
94845231
C
T
intron_variant
MODIFIER
TTC37
c.3014+67G>A
chr5
94834331
CT
C
intron_variant
MODIFIER
TTC37
c.3342-37delA
chr5
82875800
C
T
splice_region_variant&synonymous_variant
LOW
VCAN
c.9882C>T
chr5
82868173
G
A
intron_variant
MODIFIER
VCAN
c.9736-62G>A
chr5
82850631
A
G
intron_variant
MODIFIER
VCAN
c.9653-144A>G
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
82837631
G
T
missense_variant
MODERATE
VCAN
c.8809G>T
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
82834299
G
A
missense_variant
MODERATE
VCAN
c.5477G>A
chr5
82833369
A
G
missense_variant
MODERATE
VCAN
c.4547A>G
chr5
82833145
G
A
synonymous_variant
LOW
VCAN
c.4323G>A
chr5
82786194
T
C
synonymous_variant
LOW
VCAN
c.348T>C
chr5
50685505
A
G
synonymous_variant
LOW
ISL1
c.504A>G
chr5
50683655
T
C
intron_variant
MODIFIER
ISL1
c.478+72T>C