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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr19
11322515
G
A
DOCK6
c.4688C>T
p.Thr1563Met
rs200763307
chr19
8669931
G
C
ADAMTS10
c.401C>G
p.Thr134Ser
rs7255721
chr18
77246406
T
G
NFATC1
c.2251T>G
p.Cys751Gly
rs754093
chr18
74639368
A
C
ZNF236
c.4309A>C
p.Ile1437Leu
rs147362673
chr18
74611127
A
G
ZNF236
c.1843A>G
p.Ile615Val
rs608433
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
chr18
21511089
A
G
LAMA3
c.8500A>G
p.Ser2834Gly
rs1154233
chr18
21511034
C
A
LAMA3
c.8445C>A
p.Asn2815Lys
rs1154232
chr18
3188976
A
G
MYOM1
c.541T>C
p.Ser181Pro
rs1962519
chr18
3176040
C
G
MYOM1
c.1022G>C
p.Gly341Ala
rs8099021
chr18
3126811
A
G
MYOM1
c.2879T>C
p.Ile960Thr
rs1071600
chr18
3075746
G
A
MYOM1
c.4662C>T
.
rs1143657
chr17
63554591
G
A
AXIN2
c.148C>T
p.Pro50Ser
rs2240308
chr17
62041068
T
C
SCN4A
c.1570A>G
p.Ser524Gly
rs6504191
chr17
62020348
T
C
SCN4A
c.4126A>G
p.Asn1376Asp
rs2058194
chr17
48265495
T
C
COL1A1
c.3223A>G
p.Thr1075Ala
rs1800215
chr17
34884029
T
C
MYO19
c.17A>G
p.Asn6Ser
rs61738887