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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr5
82834299
G
A
VCAN
c.5477G>A
p.Arg1826His
rs188703
chr5
82833369
A
G
VCAN
c.4547A>G
p.Lys1516Arg
rs309559
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
13811775
T
C
DNAH5
c.7388A>G
p.Gln2463Arg
rs10078391
chr5
13788886
C
A
DNAH5
c.8586G>T
p.Leu2862Phe
rs10513155
chr5
13737444
G
A
DNAH5
c.11372C>T
p.Thr3791Ile
rs17263496
chr5
13719089
G
A
DNAH5
c.12401C>T
p.Ala4134Val
rs30168
chr5
13719018
G
A
DNAH5
c.12472C>T
p.Arg4158Trp
rs3756672
chr5
13708284
C
T
DNAH5
c.13286G>A
p.Arg4429Gln
rs61744047
chr5
13701536
T
C
DNAH5
c.13348A>G
p.Ile4450Val
rs3734110
chr4
170398454
T
C
NEK1
c.2255A>G
p.Glu752Gly
rs34099167
chr4
167020644
A
G
TLL1
c.2872A>G
p.Thr958Ala
rs2291822
chr4
5785442
G
A
EVC
c.1727G>A
p.Arg576Gln
rs1383180
chr4
5755542
C
A
EVC
c.1346C>A
p.Thr449Lys
rs2302075
chr4
5743512
T
C
EVC
c.772T>C
p.Tyr258His
rs6414624
chr4
5721021
A
C
EVC
c.221A>C
p.Gln74Pro
rs2291157
chr4
5624670
T
C
EVC2
c.2095A>G
p.Thr699Ala
rs730469
chr3
184103903
A
C
CHRD
c.1888A>C
p.Met630Leu
rs16858780