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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr9
139396690
C
T
intron_variant
MODIFIER
NOTCH1
c.5384+34G>A
chr9
139396408
A
G
intron_variant
MODIFIER
NOTCH1
c.5473-43T>C
chr9
139391636
G
A
synonymous_variant
LOW
NOTCH1
c.6555C>T
chr9
136412382
T
C
intron_variant
MODIFIER
ADAMTSL2
c.939+47T>C
chr9
136412346
C
T
intron_variant
MODIFIER
ADAMTSL2
c.939+11C>T
chr9
136412255
A
C
synonymous_variant
LOW
ADAMTSL2
c.859A>C
chr9
136412236
A
T
synonymous_variant
LOW
ADAMTSL2
c.840A>T
chr9
136412170
C
T
synonymous_variant
LOW
ADAMTSL2
c.774C>T
chr9
136409580
T
G
intron_variant
MODIFIER
ADAMTSL2
c.683-12T>G
chr9
136409457
A
G
intron_variant
MODIFIER
ADAMTSL2
c.683-135A>G
chr9
136405042
T
A
intron_variant
MODIFIER
ADAMTSL2
c.412+47T>A
chr9
136401606
A
C
intron_variant
MODIFIER
ADAMTSL2
c.-150-79A>C
chr9
135776034
C
T
intron_variant
MODIFIER
TSC1
c.2625+68G>A
chr9
135773000
GAAA
G
splice_region_variant&intron_variant
LOW
TSC1
c.2626-6_2626-4delTTT
chr9
135771332
GA
G
3_prime_UTR_variant
MODIFIER
TSC1
c.*289delT
chr9
135770347
A
C
3_prime_UTR_variant
MODIFIER
TSC1
c.*1275T>G
chr9
135770300
G
A
3_prime_UTR_variant
MODIFIER
TSC1
c.*1322C>T
chr9
135770134
G
A
3_prime_UTR_variant
MODIFIER
TSC1
c.*1488C>T
chr9
135770115
C
T
3_prime_UTR_variant
MODIFIER
TSC1
c.*1507G>A
chr9
135767943
C
T
3_prime_UTR_variant
MODIFIER
TSC1
c.*3679G>A