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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr14
64560092
G
A
SYNE2
c.12002G>A
p.Trp4001*
rs2781377
chr14
64560091
T
C
SYNE2
c.12001T>C
p.Trp4001Arg
rs2792205
chr14
64522843
A
G
SYNE2
c.9926A>G
p.His3309Arg
rs8010699
chr14
64522674
G
C
SYNE2
c.9757G>C
p.Asp3253His
rs8010911
chr14
64519455
A
G
SYNE2
c.8824A>G
p.Ile2942Val
rs3829767
chr14
64519035
A
G
SYNE2
c.8404A>G
p.Ser2802Gly
rs1890908
chr14
64516418
G
C
SYNE2
c.7467G>C
p.Leu2489Phe
rs143031135
chr14
64498037
G
A
SYNE2
c.7183G>A
p.Ala2395Thr
rs4027405
chr14
64497930
G
A
SYNE2
c.7076G>A
p.Ser2359Asn
rs4027404
chr14
64496749
C
T
SYNE2
c.6851C>T
p.Ala2284Val
rs4027402
chr14
64491695
T
C
SYNE2
c.5906T>C
p.Met1969Thr
rs4902264
chr14
64447776
T
C
SYNE2
c.1721T>C
p.Ile574Thr
rs9944035
chr12
117693817
G
A
NOS1
c.2557C>T
p.Pro853Ser
rs11068428
chr12
112036753
GGCT
G
ATXN2
c.563_565delAGC
p.Gln188del
rs10560189;rs67658094
chr12
95914908
G
A
USP44
c.1804C>T
p.Pro602Ser
rs74762990
chr12
57865321
G
A
GLI1
c.2798G>A
p.Gly933Asp
rs2228224
chr12
57114307
A
T
NACA
c.1007T>A
p.Val336Glu
rs2958127
chr12
51740416
C
CG
CELA1
c.6_7insC
p.Val3fs
rs148235680
chr12
51740415
A
AAG
CELA1
c.7_8insCT
p.Val3fs
rs370927847
chr12
51740407
CATAA
C
CELA1
c.12_15delTTAT
p.Tyr5fs
rs753836828