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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
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
chr3
184103903
A
C
CHRD
c.1888A>C
p.Met630Leu
rs16858780
chr3
129195166
G
T
IFT122
c.978G>T
p.Lys326Asn
rs117517364
chr3
123457893
G
A
MYLK
c.439C>T
p.Pro147Ser
rs9840993
chr3
123453061
A
G
MYLK
c.782T>C
p.Val261Ala
rs3796164
chr3
123451773
G
C
MYLK
c.1486C>G
p.Leu496Val
rs9833275
chr3
123419733
A
G
MYLK
c.2582T>C
p.Leu861Pro
rs3732486
chr3
123419573
G
T
MYLK
c.2742C>A
p.Asp914Glu
rs3732487
chr3
123419116
GTTC
G
MYLK
c.3196_3198delGAA
p.Glu1066del
rs372794395
chr3
119133183
G
A
ARHGAP31
c.2407G>A
p.Gly803Ser
rs3732413