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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
155880573
C
G
missense_variant
MODERATE
RIT1
c.31G>C
chr1
155880391
T
C
intron_variant
MODIFIER
RIT1
c.157+56A>G
chr1
155880159
T
C
intron_variant
MODIFIER
RIT1
c.214+82A>G
chr1
155873960
A
G
intron_variant
MODIFIER
RIT1
c.480+142T>C
chr1
155870416
G
A
splice_region_variant&intron_variant
LOW
RIT1
c.481-7C>T
chr1
147230217
T
C
3_prime_UTR_variant
MODIFIER
GJA5
c.*53A>G
chr1
120612163
C
A
5_prime_UTR_variant
MODIFIER
NOTCH2
c.-143G>T
chr1
120612154
C
G
5_prime_UTR_variant
MODIFIER
NOTCH2
c.-134G>C
chr1
120612040
T
TCCTCCGCCG
5_prime_UTR_variant
MODIFIER
NOTCH2
c.-21_-20insCGGCGGAGG
chr1
120612006
G
A
synonymous_variant
LOW
NOTCH2
c.15C>T
chr1
120611964
G
C
missense_variant
MODERATE
NOTCH2
c.57C>G
chr1
120572572
C
T
missense_variant
MODERATE
NOTCH2
c.112G>A
chr1
120572547
T
C
missense_variant
MODERATE
NOTCH2
c.137A>G
chr1
120539544
A
T
intron_variant
MODIFIER
NOTCH2
c.751+76T>A
chr1
120539543
C
A
intron_variant
MODIFIER
NOTCH2
c.751+77G>T
chr1
120539530
G
C
intron_variant
MODIFIER
NOTCH2
c.751+90C>G
chr1
120539331
C
T
intron_variant
MODIFIER
NOTCH2
c.751+289G>A
chr1
120512104
T
C
intron_variant
MODIFIER
NOTCH2
c.1108+30A>G
chr1
120484421
G
A
intron_variant
MODIFIER
NOTCH2
c.2753-44C>T
chr1
120480394
T
C
intron_variant
MODIFIER
NOTCH2
c.3337+86A>G