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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr10
18828721
C
CAA
3_prime_UTR_variant
MODIFIER
CACNB2
c.*70_*71dupAA
chr10
18828663
G
T
3_prime_UTR_variant
MODIFIER
CACNB2
c.*10G>T
chr10
18828371
C
T
synonymous_variant
LOW
CACNB2
c.1701C>T
chr10
18823279
T
A
intron_variant
MODIFIER
CACNB2
c.1206+123T>A
chr10
18816633
C
T
splice_region_variant&intron_variant
LOW
CACNB2
c.1054+7C>T
chr10
18804094
T
C
intron_variant
MODIFIER
CACNB2
c.804+796T>C
chr10
18795596
G
A
intron_variant
MODIFIER
CACNB2
c.670+120G>A
chr10
18789724
T
G
intron_variant
MODIFIER
CACNB2
c.457-17T>G
chr10
18691018
G
A
intron_variant
MODIFIER
CACNB2
c.333+46G>A
chr10
18550450
G
A
intron_variant
MODIFIER
CACNB2
c.213+110546G>A
chr9
140708768
T
G
intron_variant
MODIFIER
EHMT1
c.3181-115T>G
chr9
140706127
G
A
intron_variant
MODIFIER
EHMT1
c.2867+60G>A
chr9
140671031
A
G
intron_variant
MODIFIER
EHMT1
c.1792-39A>G
chr9
140637804
CT
C
intron_variant
MODIFIER
EHMT1
c.824-18delT
chr9
140605355
A
C
intron_variant
MODIFIER
EHMT1
c.22-64A>C
chr9
140605334
T
C
intron_variant
MODIFIER
EHMT1
c.22-85T>C
chr9
139418260
A
G
synonymous_variant
LOW
NOTCH1
c.312T>C
chr9
139412197
G
A
splice_region_variant&intron_variant
LOW
NOTCH1
c.1441+7C>T
chr9
139411880
G
A
intron_variant
MODIFIER
NOTCH1
c.1442-43C>T
chr9
139411714
T
C
intron_variant
MODIFIER
NOTCH1
c.1555+10A>G