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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
103471456
CCAT
C
intron_variant
MODIFIER
COL11A1
c.1828-12_1828-10delATG
chr1
103468609
A
G
intron_variant
MODIFIER
COL11A1
c.2034+162T>C
chr1
103467615
C
T
intron_variant
MODIFIER
COL11A1
c.2134-90G>A
chr1
103461508
T
A
intron_variant
MODIFIER
COL11A1
c.2331+37A>T
chr1
103455217
C
T
intron_variant
MODIFIER
COL11A1
c.2377-90G>A
chr1
103449598
G
C
intron_variant
MODIFIER
COL11A1
c.2592+96C>G
chr1
103444679
T
G
intron_variant
MODIFIER
COL11A1
c.2647-19A>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
103380379
T
TA
intron_variant
MODIFIER
COL11A1
c.3853-13_3853-12insT
chr1
103379918
G
A
missense_variant
MODERATE
COL11A1
c.4004C>T
chr1
103356168
A
C
intron_variant
MODIFIER
COL11A1
c.4339-108T>G
chr1
103354939
C
CTGTGTGTGTG
intron_variant
MODIFIER
COL11A1
c.4500+71_4500+72insCACACACACA
chr1
103354428
A
G
synonymous_variant
LOW
COL11A1
c.4548T>C
chr1
103354138
A
G
missense_variant
MODERATE
COL11A1
c.4639T>C
chr1
103352451
A
G
synonymous_variant
LOW
COL11A1
c.4806T>C
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
55529828
C
T
3_prime_UTR_variant
MODIFIER
PCSK9
c.*571C>T