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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
55529187
G
A
missense_variant
MODERATE
PCSK9
c.2009G>A
chr1
55527323
G
A
intron_variant
MODIFIER
PCSK9
c.1863+94G>A
chr1
55525400
G
A
intron_variant
MODIFIER
PCSK9
c.1681+64G>A
chr1
55524387
T
C
intron_variant
MODIFIER
PCSK9
c.1503+67T>C
chr1
55524339
CGTGTGTGTGTGTGT
CGT
intron_variant
MODIFIER
PCSK9
c.1503+22_1503+33delGTGTGTGTGTGT
chr1
55524339
CGTGTGTGTGTGTGT
C
intron_variant
MODIFIER
PCSK9
c.1503+20_1503+33delGTGTGTGTGTGTGT
chr1
55524237
G
A
missense_variant
MODERATE
PCSK9
c.1420G>A
chr1
55524197
A
G
synonymous_variant
LOW
PCSK9
c.1380A>G
chr1
55524116
C
T
intron_variant
MODIFIER
PCSK9
c.1355-56C>T
chr1
55523984
C
T
intron_variant
MODIFIER
PCSK9
c.1354+102C>T
chr1
55523033
A
G
synonymous_variant
LOW
PCSK9
c.1026A>G
chr1
55518528
C
A
intron_variant
MODIFIER
PCSK9
c.799+64C>A
chr1
55518190
AC
A
intron_variant
MODIFIER
PCSK9
c.657+107delC
chr1
55518166
G
A
intron_variant
MODIFIER
PCSK9
c.657+82G>A
chr1
55517883
C
G
intron_variant
MODIFIER
PCSK9
c.524-68C>G
chr1
55517861
C
G
intron_variant
MODIFIER
PCSK9
c.524-90C>G
chr1
55505732
A
G
intron_variant
MODIFIER
PCSK9
c.207+15A>G
chr1
55352843
C
A
5_prime_UTR_variant
MODIFIER
DHCR24
c.-51G>T
chr1
55336950
C
G
intron_variant
MODIFIER
DHCR24
c.876+73G>C
chr1
55330966
T
C
intron_variant
MODIFIER
DHCR24
c.1020+10A>G