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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
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
chr3
123457893
G
A
MYLK
c.439C>T
p.Pro147Ser
rs9840993
chr3
123451773
G
C
MYLK
c.1486C>G
p.Leu496Val
rs9833275
chr3
119133183
G
A
ARHGAP31
c.2407G>A
p.Gly803Ser
rs3732413
chr3
58118555
G
A
FLNB
c.4504G>A
p.Val1502Met
rs12632456
chr3
58109162
G
A
FLNB
c.3469G>A
p.Asp1157Asn
rs1131356
chr3
38640451
G
A
SCN5A
c.1981C>T
p.Arg661Trp
rs199473139
chr3
24006477
T
A
NR1D2
c.1156T>A
p.Leu386Met
rs4858097
chr3
10106532
C
T
FANCD2
c.2141C>T
p.Pro714Leu
rs3864017