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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
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
55518467
A
G
splice_region_variant&intron_variant
LOW
PCSK9
c.799+3A>G
chr1
55518316
C
T
splice_region_variant&intron_variant
LOW
PCSK9
c.658-7C>T
chr1
55518198
C
A
intron_variant
MODIFIER
PCSK9
c.657+114C>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
55505804
T
A
intron_variant
MODIFIER
PCSK9
c.207+87T>A
chr1
55505732
A
G
intron_variant
MODIFIER
PCSK9
c.207+15A>G
chr1
55505668
C
T
missense_variant
MODERATE
PCSK9
c.158C>T
chr1
55505552
A
ACTG
disruptive_inframe_insertion
MODERATE
PCSK9
c.63_65dupGCT
chr1
55505447
C
T
5_prime_UTR_variant
MODIFIER
PCSK9
c.-64C>T
chr1
55330966
T
C
intron_variant
MODIFIER
DHCR24
c.1020+10A>G
chr1
55318108
C
T
intron_variant
MODIFIER
DHCR24
c.1398-49G>A