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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr17
29496819
C
T
intron_variant
MODIFIER
NF1
c.480-90C>T
chr17
29486152
G
A
intron_variant
MODIFIER
NF1
c.288+41G>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
17696531
G
C
missense_variant
MODERATE
RAI1
c.269G>C
chr17
17394611
G
A
synonymous_variant
LOW
MED9
c.243G>A
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
2573652
C
T
intron_variant
MODIFIER
PAFAH1B1
c.568+27C>T
chr16
89883148
A
AGGCCTTGCGTCGT
upstream_gene_variant
MODIFIER
FANCA
c.-43_-43insACGACGCAAGGCC
chr16
89882826
C
T
intron_variant
MODIFIER
FANCA
c.79+119G>A
chr16
89882807
G
T
intron_variant
MODIFIER
FANCA
c.79+138C>A
chr16
89877269
T
C
intron_variant
MODIFIER
FANCA
c.427-59A>G
chr16
89874628
C
T
intron_variant
MODIFIER
FANCA
c.596+74G>A
chr16
89874559
A
C
intron_variant
MODIFIER
FANCA
c.596+143T>G
chr16
89869761
T
C
intron_variant
MODIFIER
FANCA
c.710-12A>G