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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
103444679
T
G
intron_variant
MODIFIER
COL11A1
c.2647-19A>C
chr1
103440497
A
G
intron_variant
MODIFIER
COL11A1
c.2791-58T>C
chr1
103428389
G
A
intron_variant
MODIFIER
COL11A1
c.2953-73C>T
chr1
103400492
A
T
intron_variant
MODIFIER
COL11A1
c.3528+124T>A
chr1
103400491
G
A
intron_variant
MODIFIER
COL11A1
c.3528+125C>T
chr1
103381129
C
T
intron_variant
MODIFIER
COL11A1
c.3852+58G>A
chr1
103380379
T
TA
intron_variant
MODIFIER
COL11A1
c.3853-13_3853-12insT
chr1
103379828
A
AT
intron_variant
MODIFIER
COL11A1
c.4014+79_4014+80insA
chr1
103356107
A
G
intron_variant
MODIFIER
COL11A1
c.4339-47T>C
chr1
103354115
T
C
intron_variant
MODIFIER
COL11A1
c.4644+18A>G
chr1
59248813
G
C
5_prime_UTR_variant
MODIFIER
JUN
c.-71C>G
chr1
55530627
T
G
downstream_gene_variant
MODIFIER
PCSK9
c.*2441T>G
chr1
55530503
AAAAC
A
3_prime_UTR_variant
MODIFIER
PCSK9
c.*1255_*1258delAAAC
chr1
55529828
C
T
3_prime_UTR_variant
MODIFIER
PCSK9
c.*571C>T
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
CGTGTGTGTGTGTGTGT
CGT
intron_variant
MODIFIER
PCSK9
c.1503+22_1503+35delGTGTGTGTGTGTGT
chr1
55524339
CGTGTGTGTGTGTGTGT
C
intron_variant
MODIFIER
PCSK9
c.1503+20_1503+35delGTGTGTGTGTGTGTGT