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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr17
8025180
T
C
synonymous_variant
LOW
HES7
c.402A>G
chr17
2584946
G
A
intron_variant
MODIFIER
PAFAH1B1
c.1160-77G>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
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
chr16
89866160
A
G
intron_variant
MODIFIER
FANCA
c.793-114T>C
chr16
89866043
T
C
missense_variant
MODERATE
FANCA
c.796A>G
chr16
89859015
GT
G
intron_variant
MODIFIER
FANCA
c.1007-61delA
chr16
89859008
G
A
intron_variant
MODIFIER
FANCA
c.1007-53C>T
chr16
89858525
C
G
intron_variant
MODIFIER
FANCA
c.1084-49G>C
chr16
89858505
T
C
intron_variant
MODIFIER
FANCA
c.1084-29A>G
chr16
89858024
A
G
intron_variant
MODIFIER
FANCA
c.1226-80T>C
chr16
89857964
T
C
intron_variant
MODIFIER
FANCA
c.1226-20A>G
chr16
89857700
A
G
intron_variant
MODIFIER
FANCA
c.1359+111T>C
chr16
89857622
T
C
intron_variant
MODIFIER
FANCA
c.1359+189A>G
chr16
89849583
C
T
intron_variant
MODIFIER
FANCA
c.1471-73G>A