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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr18
42456670
C
CTCTT
SETBP1
c.681_682insTCTT
p.Thr228fs
rs3085861
chr18
42456653
G
A
SETBP1
c.664G>A
p.Ala222Thr
rs663651
chr17
17697101
AG
A
RAI1
c.840delG
p.Gln280fs
rs34083643
chr17
17697098
AGC
A
RAI1
c.837_838delGC
p.Gln279fs
rs35068024
chr17
17696755
C
A
RAI1
c.493C>A
p.Pro165Thr
rs11649804
chr17
17696531
G
C
RAI1
c.269G>C
p.Gly90Ala
rs3803763
chr16
89866043
T
C
FANCA
c.796A>G
p.Thr266Ala
rs7190823
chr16
89857935
G
A
FANCA
c.1235C>T
p.Ala412Val
rs11646374
chr16
89849480
C
T
FANCA
c.1501G>A
p.Gly501Ser
rs2239359
chr16
89839766
G
C
FANCA
c.1927C>G
p.Pro643Ala
rs17232910
chr16
89836323
C
T
FANCA
c.2426G>A
p.Gly809Asp
rs7195066
chr16
89805914
T
C
FANCA
c.3982A>G
p.Thr1328Ala
rs9282681
chr16
88504868
A
G
ZNF469
c.10906A>G
p.Thr3636Ala
rs904783
chr16
88504850
G
C
ZNF469
c.10888G>C
p.Glu3630Gln
rs1105066
chr16
88502505
A
G
ZNF469
c.8543A>G
p.His2848Arg
rs1983014
chr16
88501971
T
A
ZNF469
c.8009T>A
p.Leu2670Gln
rs3812956
chr16
88501034
G
C
ZNF469
c.7072G>C
p.Gly2358Arg
rs12598474
chr16
88498221
C
T
ZNF469
c.4259C>T
p.Pro1420Leu
rs4782300
chr16
88497446
A
G
ZNF469
c.3484A>G
p.Lys1162Glu
rs7197071
chr16
88496277
C
G
ZNF469
c.2399C>G
p.Ala800Gly
.