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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
55319935
GA
G
intron_variant
MODIFIER
DHCR24
c.1021-29delT
chr1
55319902
A
G
synonymous_variant
LOW
DHCR24
c.1026T>C
chr1
55318108
C
T
intron_variant
MODIFIER
DHCR24
c.1398-49G>A
chr1
40737516
T
G
intron_variant
MODIFIER
ZMPSTE24
c.628-50T>G
chr1
40733658
A
G
intron_variant
MODIFIER
ZMPSTE24
c.357+114A>G
chr1
38022452
C
A
upstream_gene_variant
MODIFIER
SNIP1
c.-116G>T
chr1
38006359
A
G
splice_region_variant&intron_variant
LOW
SNIP1
c.328-3T>C
chr1
22217108
G
A
synonymous_variant
LOW
HSPG2
c.324C>T
chr1
22216604
C
G
synonymous_variant
LOW
HSPG2
c.444G>C
chr1
22216574
C
A
synonymous_variant
LOW
HSPG2
c.474G>T
chr1
22214645
C
A
intron_variant
MODIFIER
HSPG2
c.575-86G>T
chr1
22214127
A
G
synonymous_variant
LOW
HSPG2
c.744T>C
chr1
22211222
T
C
intron_variant
MODIFIER
HSPG2
c.1507+38A>G
chr1
22211217
G
A
intron_variant
MODIFIER
HSPG2
c.1507+43C>T
chr1
22208030
C
T
intron_variant
MODIFIER
HSPG2
c.1658-35G>A
chr1
22207804
ACCCAGGGTGGCAG
A
intron_variant
MODIFIER
HSPG2
c.1821+15_1821+27delCTGCCACCCTGGG
chr1
22207235
T
C
missense_variant
MODERATE
HSPG2
c.1915A>G
chr1
22206942
G
A
synonymous_variant
LOW
HSPG2
c.2112C>T
chr1
22206649
T
C
missense_variant
MODERATE
HSPG2
c.2297A>G
chr1
22205466
T
C
intron_variant
MODIFIER
HSPG2
c.2474+21A>G