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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr5
82833369
A
G
missense_variant
MODERATE
VCAN
c.4547A>G
chr5
82833145
G
A
synonymous_variant
LOW
VCAN
c.4323G>A
chr5
82789842
G
C
intron_variant
MODIFIER
VCAN
c.748+92G>C
chr5
82789647
A
G
synonymous_variant
LOW
VCAN
c.645A>G
chr5
82786194
T
C
synonymous_variant
LOW
VCAN
c.348T>C
chr5
37247900
AT
A
intron_variant
MODIFIER
C5orf42
c.-47-54delA
chr5
37247700
G
A
intron_variant
MODIFIER
C5orf42
c.81+20C>T
chr5
37226961
G
A
missense_variant
MODERATE
C5orf42
c.1736C>T
chr5
37224485
T
C
intron_variant
MODIFIER
C5orf42
c.2501-50A>G
chr5
37187489
G
A
intron_variant
MODIFIER
C5orf42
c.4080+27C>T
chr5
37182902
G
A
missense_variant
MODERATE
C5orf42
c.5381C>T
chr5
37179341
G
A
intron_variant
MODIFIER
C5orf42
c.5820+122C>T
chr5
37176091
A
G
splice_region_variant&intron_variant
LOW
C5orf42
c.5901-3T>C
chr5
37175888
T
TTTA
intron_variant
MODIFIER
C5orf42
c.5978+122_5978+123insTAA
chr5
37173930
A
C
missense_variant
MODERATE
C5orf42
c.6098T>G
chr5
37139474
TA
T
splice_region_variant&intron_variant
LOW
C5orf42
c.8471-3delT
chr5
37115000
CA
C
intron_variant
MODIFIER
C5orf42
c.9238+61delT
chr5
37019354
G
A
intron_variant
MODIFIER
NIPBL
c.4921-59G>A
chr5
37007629
T
C
intron_variant
MODIFIER
NIPBL
c.4239+53T>C
chr5
37001074
A
G
intron_variant
MODIFIER
NIPBL
c.3575-17A>G