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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr19
39025366
C
G
RYR1
c.11266C>G
p.Gln3756Glu
rs4802584
chr19
35524944
G
C
SCN1B
c.749G>C
p.Arg250Thr
rs67486287
chr19
35524939
C
A
SCN1B
c.744C>A
p.Ser248Arg
rs67701503
chr19
35524824
T
C
SCN1B
c.629T>C
p.Leu210Pro
rs55742440
chr19
18980172
G
A
GDF1
c.353C>T
p.Ala118Val
rs4808863
chr19
18273047
T
C
PIK3R2
c.937T>C
p.Ser313Pro
rs1011320
chr19
18266699
C
T
PIK3R2
c.10C>T
p.Pro4Ser
rs142933317
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