Page size
CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
204506107
C
T
intron_variant
MODIFIER
MDM4
c.344-451C>T
chr1
204505976
GA
G
intron_variant
MODIFIER
MDM4
c.344-581delA
chr1
201336870
C
T
intron_variant
MODIFIER
TNNT2
c.199+29G>A
chr1
201335899
C
T
intron_variant
MODIFIER
TNNT2
c.233+67G>A
chr1
155880760
C
CA
intron_variant
MODIFIER
RIT1
c.-3+273_-3+274insT
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
120612168
C
T
5_prime_UTR_variant
MODIFIER
NOTCH2
c.-148G>A
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
TCCTCCTCCG
5_prime_UTR_variant
MODIFIER
NOTCH2
c.-21_-20insCGGAGGAGG
chr1
120612006
G
A
synonymous_variant
LOW
NOTCH2
c.15C>T
chr1
120611964
G
C
missense_variant
MODERATE
NOTCH2
c.57C>G
chr1
120611876
C
T
intron_variant
MODIFIER
NOTCH2
c.73+72G>A
chr1
120572572
C
T
missense_variant
MODERATE
NOTCH2
c.112G>A
chr1
120572547
T
C
missense_variant
MODERATE
NOTCH2
c.137A>G