Table 2 Recurring pathogenic variants in the DNAH5 gene

c.670C > T^a

p.Arg224*

3/280(1.07%)

1/125(0.80%)

NA

NA

2/83(2.41%)

c.832delG

p.Ala278Argfs*27

4/280(1.43%)

4/125(3.20%)

NA

NA

NA

c.1089 + 1G > A

p.Thr326-Pro363del or Thr326Valfs*25

3/280(1.07%)

3/125(2.40%)

NA

NA

NA

c.3037_3040delAGCG

p.Val1014Leufs*20

3/280(1.07%)

2/125(1.60%)

NA

NA

1/83(1.20%)

c.3484C > T^b

p.Gln1162*

3/280(1.07%)

2/125(1.60%)

NA

NA

1/83(1.20%)

c.3905delT

p.Leu1302Argfs*19

3/280(1.07%)

2/125(1.60%)

NA

NA

1/83(1.20%)

c.4348C > T^b

p.Gln1450*

6/280(2.14%)

6/125(4.80%)

NA

NA

NA

c.5177 T > C

p.Leu1726Pro

3/280(1.07%)

2/125(1.60%)

NA

NA

1/83(1.20%)

c.5281C > T^a

p.Arg1761*

3/280(1.07%)

3/125(2.40%)

NA

NA

NA

c.5563_5564insA

p.Ile1855Asnfs*6

10/280(3.57%)

4/125(3.20%)

6/72(8.33%)

3/48(6.25%)

NA

c.5710-2A > G

p.Cys1904-Lys1909del

4/280(1.43%)

4/125(3.20%)

NA

NA

NA

c.5983C > T^a

p.Arg1995*

4/280(1.43%)

2/125(1.60%)

2/72(2.78%)

NA

NA

c.6249G > A

p.Met2083Ile

4/280(1.43%)

2/125(1.60%)

NA

NA

2/83(2.41%)

c.6304C > T^a

p.Arg2102Cys

3/280(1.07%)

NA

2/72(2.78%)

2/48(4.17%)

1/83(1.20%)

c.6647de1A

p.Lys2216Argfs*20

3/280(1.07%)

NA

3/72(4.17%)

3/48(6.25%)

NA

c.6791G > A

p.Ser2264Asn

3/280(1.07%)

2/125(1.60%)

NA

NA

1/83(1.20%)

c.7502G > C

p.Arg2501Pro

5/280(1.79%)

4/125(3.20%)

NA

NA

1/83(1.20%)

c.7915C > T

p.Arg2639*

4/280(1.43%)

3/125(2.40%)

1/72(1.39%)

1/48(2.08%)

NA

c.8029C > T^a

p.Arg2677*

7/280(2.50%)

4/125(3.20%)

2/72(2.78%)

2/48(4.17%)

1/83(1.20%)

c.8030G > A

p.Arg2677Gln

4/280(1.43%)

NA

4/72(5.56%)

4/48(8.33%)

NA

c.8311C > T^a

p.Arg2771Cys

3/280(1.07%)

NA

1/72(1.39%)

1/48(2.08%)

2/83(2.41%)

c.8383C > T^a

p.Arg2795*

7/280(2.50%)

1/125(0.80%)

4/72(5.56%)

2/48(4.17%)

2/83(2.41%)

c.8440_8447del GAACCAAA

p.Glu2814fs*1

5/280(1.79%)

4/125(3.20%)

NA

NA

1/83(1.20%)

c.8498G > A

p.Arg2833His

4/280(1.43%)

2/125(1.60%)

1/72(1.39%)

1/48(2.08%)

1/83(1.20%)

c.9286C > T^a

p.Arg3096*

3/280(1.07%)

1/125(0.80%)

2/72(2.78%)

1/48(2.08%)

NA

c.9502C > T^a

p.Arg3168*

3/280(1.07%)

NA

3/72(4.17%)

2/48(4.17%)

NA

c.10384C > T^b

p.Gln3462*

5/280(1.79%)

5/125(4.00%)

NA

NA

NA

c.10615C > T^a

p.Arg3539Cys

3/280(1.07%)

2/125(1.60%)

NA

NA

1/83(1.20%)

c.10616G > A

p.Arg3539His

6/280(2.14%)

2/125(1.60%)

3/72(4.17%)

2/48(4.17%)

1/83(1.20%)

c.10815delT

p.Pro3606Hisfs*23

31/280(11.07%)

21/125(16.80%)

NA

NA

10/83(12.05%)

c.13194_13197delCAGA

p.Asp4398Glufs*16

5/280(1.79%)

5/125(4.00%)

NA

NA

NA

c.13285C > T^a

p.Arg4429*

3/280(1.07%)

1/125(0.80%)

NA

NA

2/83(2.41%)

c.13458_13459insT

p.Asn4487fs*1

14/280(5.00%)

7/125(5.60%)

1/72(1.39%)

NA

6/83(7.23%)