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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
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
chr12
31255263
G
A
intron_variant
MODIFIER
DDX11
c.2271+18G>A
chr12
31254959
C
T
intron_variant
MODIFIER
DDX11
c.2202+43C>T
chr12
31254752
C
T
intron_variant
MODIFIER
DDX11
c.2053-15C>T
chr12
31254701
G
T
intron_variant
MODIFIER
DDX11
c.2053-66G>T
chr12
31254642
T
A
intron_variant
MODIFIER
DDX11
c.2053-125T>A
chr12
31253995
C
T
synonymous_variant
LOW
DDX11
c.1983C>T
chr12
31250768
C
T
intron_variant
MODIFIER
DDX11
c.1763-51C>T
chr12
31249861
C
G
missense_variant
MODERATE
DDX11
c.1699C>G
chr12
31247682
T
C
splice_region_variant&intron_variant
LOW
DDX11
c.1415-7T>C
chr12
31247480
T
G
intron_variant
MODIFIER
DDX11
c.1370-44T>G
chr12
31246371
C
T
intron_variant
MODIFIER
DDX11
c.1369+113C>T
chr12
31245916
C
T
intron_variant
MODIFIER
DDX11
c.1289+90C>T
chr12
31245741
A
G
intron_variant
MODIFIER
DDX11
c.1243-39A>G
chr12
31244924
G
A
intron_variant
MODIFIER
DDX11
c.1242+119G>A
chr12
31244846
C
G
intron_variant
MODIFIER
DDX11
c.1242+41C>G
chr12
31244703
C
T
synonymous_variant
LOW
DDX11
c.1140C>T