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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr12
49424534
G
A
synonymous_variant
LOW
KMT2D
c.13689C>T
chr12
49421179
G
C
intron_variant
MODIFIER
KMT2D
c.14644-74C>G
chr12
48377898
G
A
missense_variant
MODERATE
COL2A1
c.1913C>T
chr12
48375437
C
CT
intron_variant
MODIFIER
COL2A1
c.2409+121_2409+122insA
chr12
48374513
A
G
intron_variant
MODIFIER
COL2A1
c.2518-69T>C
chr12
48373718
A
AC
intron_variant
MODIFIER
COL2A1
c.2679+73_2679+74insG
chr12
48367976
C
T
missense_variant
MODERATE
COL2A1
c.4213G>A
chr12
31256905
T
C
missense_variant
MODERATE
DDX11
c.2851T>C
chr12
31256546
G
A
missense_variant
MODERATE
DDX11
c.2567G>A
chr12
31256368
G
T
intron_variant
MODIFIER
DDX11
c.2531+39G>T
chr12
31256342
G
A
intron_variant
MODIFIER
DDX11
c.2531+13G>A
chr12
31256220
A
G
intron_variant
MODIFIER
DDX11
c.2458-36A>G
chr12
31256219
C
T
intron_variant
MODIFIER
DDX11
c.2458-37C>T
chr12
31256164
G
T
intron_variant
MODIFIER
DDX11
c.2458-92G>T
chr12
31256075
G
A
intron_variant
MODIFIER
DDX11
c.2457+121G>A
chr12
31255772
A
AG
intron_variant
MODIFIER
DDX11
c.2373-98_2373-97insG
chr12
31255656
C
T
intron_variant
MODIFIER
DDX11
c.2372+195C>T
chr12
31255654
A
G
intron_variant
MODIFIER
DDX11
c.2372+193A>G
chr12
31255626
T
C
intron_variant
MODIFIER
DDX11
c.2372+165T>C
chr12
31255280
G
A
intron_variant
MODIFIER
DDX11
c.2271+35G>A