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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr16
89849480
C
T
missense_variant
MODERATE
FANCA
c.1501G>A
chr16
89846195
A
G
intron_variant
MODIFIER
FANCA
c.1715+82T>C
chr16
89845194
A
G
intron_variant
MODIFIER
FANCA
c.1826+15T>C
chr16
89845110
A
T
intron_variant
MODIFIER
FANCA
c.1826+99T>A
chr16
89842029
C
G
intron_variant
MODIFIER
FANCA
c.1900+121G>C
chr16
89838078
A
G
splice_region_variant&intron_variant
LOW
FANCA
c.2151+8T>C
chr16
89836872
T
C
intron_variant
MODIFIER
FANCA
c.2222+100A>G
chr16
89836865
A
G
intron_variant
MODIFIER
FANCA
c.2222+107T>C
chr16
89836781
G
A
intron_variant
MODIFIER
FANCA
c.2223-114C>T
chr16
89836507
T
C
intron_variant
MODIFIER
FANCA
c.2316+67A>G
chr16
89836323
C
T
missense_variant
MODERATE
FANCA
c.2426G>A
chr16
89833774
C
G
intron_variant
MODIFIER
FANCA
c.2505-129G>C
chr16
89829201
G
C
intron_variant
MODIFIER
FANCA
c.2779-771C>G
chr16
89818732
C
G
intron_variant
MODIFIER
FANCA
c.2982-102G>C
chr16
89818491
T
C
intron_variant
MODIFIER
FANCA
c.3066+55A>G
chr16
89815217
C
T
intron_variant
MODIFIER
FANCA
c.3240-42G>A
chr16
89804335
CT
C
3_prime_UTR_variant
MODIFIER
FANCA
c.*673delA
chr16
88505748
G
A
3_prime_UTR_variant
MODIFIER
ZNF469
c.*8G>A
chr16
88505734
C
T
synonymous_variant
LOW
ZNF469
c.11772C>T
chr16
88505635
A
G
synonymous_variant
LOW
ZNF469
c.11673A>G