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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr5
94833169
C
G
TTC37
c.3587G>C
p.Trp1196Ser
.
chr5
82837631
G
T
VCAN
c.8809G>T
p.Asp2937Tyr
rs160277
chr5
82835724
T
A
VCAN
c.6902T>A
p.Phe2301Tyr
rs160278
chr5
82834299
G
A
VCAN
c.5477G>A
p.Arg1826His
rs188703
chr5
82833369
A
G
VCAN
c.4547A>G
p.Lys1516Arg
rs309559
chr5
82818072
C
T
VCAN
c.3947C>T
p.Thr1316Ile
.
chr5
82815408
G
A
VCAN
c.1283G>A
p.Gly428Asp
rs2287926
chr5
82808072
C
T
VCAN
c.899C>T
p.Ser300Leu
rs2652098
chr5
37227850
C
T
C5orf42
c.1191G>A
p.Met397Ile
rs573982253
chr5
13944512
A
C
DNAH5
c.36T>G
p.His12Gln
rs339445
chr5
13931340
C
T
DNAH5
c.71G>A
p.Gly24Glu
rs1530496
chr5
13902220
T
C
DNAH5
c.1672A>G
p.Thr558Ala
rs1530498
chr5
13901366
G
A
DNAH5
c.2047C>T
p.Arg683Trp
rs182512638
chr5
13811775
T
C
DNAH5
c.7388A>G
p.Gln2463Arg
rs10078391
chr5
13717471
T
C
DNAH5
c.12658A>G
p.Thr4220Ala
rs2277046
chr4
120057709
A
C
MYOZ2
c.29A>C
p.Gln10Pro
rs76757102
chr4
5755542
C
A
EVC
c.1346C>A
p.Thr449Lys
rs2302075
chr4
5743512
T
C
EVC
c.772T>C
p.Tyr258His
rs6414624
chr4
5690902
T
C
EVC2
c.688A>G
p.Ser230Gly
rs4689278
chr4
5624670
T
C
EVC2
c.2095A>G
p.Thr699Ala
rs730469