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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr19
11358799
G
A
DOCK6
c.749C>T
p.Pro250Leu
rs12978266
chr19
8669931
G
C
ADAMTS10
c.401C>G
p.Thr134Ser
rs7255721
chr19
8645786
A
C
ADAMTS10
c.3303T>G
p.His1101Gln
rs7252299
chr18
59814324
G
C
PIGN
c.685C>G
p.His229Asp
rs9320001
chr18
59805532
T
C
PIGN
c.1117-1A>G
.
rs9959632
chr18
42532693
C
A
SETBP1
c.3388C>A
p.Pro1130Thr
rs1064204
chr18
42532606
G
A
SETBP1
c.3301G>A
p.Val1101Ile
rs3744825
chr18
42531184
C
T
SETBP1
c.1879C>T
p.Arg627Cys
rs146193261
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