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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr19
38954099
A
G
RYR1
c.2614A>G
p.Lys872Glu
.
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
18980054
T
TGCC
GDF1
c.468_470dupGGC
p.Ala157dup
rs571387097
chr19
18273047
T
C
PIK3R2
c.937T>C
p.Ser313Pro
rs1011320
chr19
11358799
G
A
DOCK6
c.749C>T
p.Pro250Leu
rs12978266
chr19
11319636
G
A
DOCK6
c.4895C>T
p.Ala1632Val
rs117328686
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
42456670
C
CTCTT
SETBP1
c.681_682insTCTT
p.Thr228fs
rs3085861
chr18
42456653
G
A
SETBP1
c.664G>A
p.Ala222Thr
rs663651
chr17
44248848
G
A
KANSL1
c.662C>T
p.Thr221Ile
rs17662853
chr17
39912145
T
A
JUP
c.2089A>T
p.Met697Leu
rs1126821
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