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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr12
49424616
G
A
intron_variant
MODIFIER
KMT2D
c.13671+60C>T
chr12
49424534
G
A
synonymous_variant
LOW
KMT2D
c.13689C>T
chr12
49421179
G
C
intron_variant
MODIFIER
KMT2D
c.14644-74C>G
chr12
49416046
TC
T
intron_variant
MODIFIER
KMT2D
c.16412+16delG
chr12
48398223
G
A
5_prime_UTR_variant
MODIFIER
COL2A1
c.-119C>T
chr12
48398080
T
A
missense_variant
MODERATE
COL2A1
c.25A>T
chr12
48398002
G
C
intron_variant
MODIFIER
COL2A1
c.85+18C>G
chr12
48389643
A
C
intron_variant
MODIFIER
COL2A1
c.654+15T>G
chr12
48386577
G
T
intron_variant
MODIFIER
COL2A1
c.1023+84C>A
chr12
48386553
A
G
intron_variant
MODIFIER
COL2A1
c.1023+108T>C
chr12
48380031
A
G
intron_variant
MODIFIER
COL2A1
c.1527+88T>C
chr12
48377970
A
G
intron_variant
MODIFIER
COL2A1
c.1888-47T>C
chr12
48376530
C
A
intron_variant
MODIFIER
COL2A1
c.2193+101G>T
chr12
48376503
C
T
intron_variant
MODIFIER
COL2A1
c.2194-111G>A
chr12
48376447
A
G
intron_variant
MODIFIER
COL2A1
c.2194-55T>C
chr12
48376443
A
AC
intron_variant
MODIFIER
COL2A1
c.2194-52_2194-51insG
chr12
48376291
G
A
synonymous_variant
LOW
COL2A1
c.2295C>T
chr12
48376137
G
A
intron_variant
MODIFIER
COL2A1
c.2301+148C>T
chr12
48375975
A
G
intron_variant
MODIFIER
COL2A1
c.2302-32T>C
chr12
48375965
C
T
intron_variant
MODIFIER
COL2A1
c.2302-22G>A