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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr17
29670190
C
G
intron_variant
MODIFIER
NF1
c.7189+37C>G
chr17
29663625
T
TA
intron_variant
MODIFIER
NF1
c.6148-28_6148-27insA
chr17
29647361
TA
T
intron_variant
MODIFIER
NF1
c.4836-5476delA
chr17
29563085
T
TG
intron_variant
MODIFIER
NF1
c.3974+46_3974+47insG
chr17
29563076
T
TG
intron_variant
MODIFIER
NF1
c.3974+37_3974+38insG
chr17
29559932
C
A
intron_variant
MODIFIER
NF1
c.3496+33C>A
chr17
29558082
T
C
intron_variant
MODIFIER
NF1
c.3197+139T>C
chr17
29553485
G
A
synonymous_variant
LOW
NF1
c.2034G>A
chr17
17721736
C
T
intron_variant
MODIFIER
SREBF1
c.1159-48G>A
chr17
17719503
G
T
intron_variant
MODIFIER
SREBF1
c.2304+18C>A
chr17
17697101
AG
A
frameshift_variant
HIGH
RAI1
c.840delG
chr17
17697098
AGC
A
frameshift_variant
HIGH
RAI1
c.837_838delGC
chr17
17696755
C
A
missense_variant
MODERATE
RAI1
c.493C>A
chr17
17696546
C
T
missense_variant
MODERATE
RAI1
c.284C>T
chr17
17696531
G
C
missense_variant
MODERATE
RAI1
c.269G>C
chr17
17696462
C
G
missense_variant
MODERATE
RAI1
c.200C>G
chr17
17388860
A
G
intron_variant
MODIFIER
MED9
c.225-5733A>G
chr17
8027318
A
G
intron_variant
MODIFIER
HES7
c.42+43T>C
chr17
8026364
C
T
synonymous_variant
LOW
HES7
c.123G>A
chr17
8025712
A
G
synonymous_variant
LOW
HES7
c.175T>C