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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr9
139407452
C
T
intron_variant
MODIFIER
NOTCH1
c.2467+21G>A
chr9
139405501
A
G
intron_variant
MODIFIER
NOTCH1
c.2587+103T>C
chr9
139405475
C
T
intron_variant
MODIFIER
NOTCH1
c.2587+129G>A
chr9
139405361
A
G
intron_variant
MODIFIER
NOTCH1
c.2588-104T>C
chr9
139405261
C
T
splice_region_variant&intron_variant
LOW
NOTCH1
c.2588-4G>A
chr9
139403554
T
C
intron_variant
MODIFIER
NOTCH1
c.2970-31A>G
chr9
139403268
T
C
intron_variant
MODIFIER
NOTCH1
c.3171+54A>G
chr9
139403240
T
TG
intron_variant
MODIFIER
NOTCH1
c.3171+81_3171+82insC
chr9
139402908
T
C
intron_variant
MODIFIER
NOTCH1
c.3172-71A>G
chr9
139402663
T
C
intron_variant
MODIFIER
NOTCH1
c.3325+21A>G
chr9
139401504
G
A
intron_variant
MODIFIER
NOTCH1
c.3644-79C>T
chr9
139400904
C
T
intron_variant
MODIFIER
NOTCH1
c.4014+75G>A
chr9
139400406
C
T
intron_variant
MODIFIER
NOTCH1
c.4015-73G>A
chr9
139397707
G
A
synonymous_variant
LOW
NOTCH1
c.5094C>T
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
136412296
C
T
synonymous_variant
LOW
ADAMTSL2
c.900C>T