Table 1 Summary of the mutations already published for the DNAH5 gene
DNA changeProtein changeRef
Exon
3c.232C>Tp.R78X15
3c.252T>Gp.Y84X15
7c.832delGp.A278RfsX2715
11c.1426_1427delp.F476SfsX2615
12c.1627C>Tp.Q543X15
13c.1730G>C*p.N549_R577delfsX515
14c.1828C>Tp.Q610X14
25c.3905delp.L1302RfsX1915
28c.4360C>Tp.R1454X14
28c.4361G>Ap.R1454Q14
32c.5130_5131insAp.R1711TfsX3614
32c.5147G>Tp.R1716L15
33c.5281C>Tp.R1761X15
33c.5482C>Tp.Q1828X15
34c.5563_5564insAp.I1855NfsX614
34c.5599_5600insCp.I1867PfsX3515
36c.6037C>Tp.R2013X15
41c.6791G>Ap.S2264N15
43c.7039G>Ap.E2347K15
45c.7502G>Cp.R2501P15
48c.7914_7915insAp.R2639TfsX1915
48c.7915C>Tp.R2639X14
49c.8029C>Tp.R2677X15
49c.8167C>Tp.Q2723X15
50c.8314C>Tp.R2772X15
50c.8404C>Tp.Q2802X15
50c.8440_8447delp.E2814fsX114
51c.8528T>Cp.F2843S15
53c.8910_8911delATinsGp.2970SfsX714
60c.10226G>Cp.W3409S15
62c.10555G>Cp.G3519R14
63c.10815delp.P3606GfsX2315
67c.11528C>Tp.S3843L15
73c.12614G>Tp.G4205V15
77c.13426C>Tp.R4476X15
77c.13458_13459insTbp.N4487fsX115
77c.13486C>Tp.R4496X15
Intron
17c.2577+2T>Csplice mutation15
27c.4355+1G>Asplice mutation15
74c.12706−1G>C*p.S4304DfsX625
75c.12910−2A>Tsplice mutation15
76c.13338+5G>Asplice mutation15
  • Ref, references.

  • *RNA tested.