NM_001369.3(DNAH5):c.8311C>T (p.Arg2771Cys)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 3|not provided
β
β
ββ2026β Residue 2771
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter)Pathogenic
not provided|Primary ciliary dyskinesia|Primary ciliary dyskinesia 3
β
β
ββ2026β Residue 3481
NM_001369.3(DNAH5):c.7096C>T (p.Arg2366Trp)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 3
β
β
ββ2026β Residue 2366
NM_001369.3(DNAH5):c.4084C>T (p.Gln1362Ter)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 3
β
β
ββ2026β Residue 1362
NM_001369.3(DNAH5):c.4360C>T (p.Arg1454Ter)Pathogenic
Primary ciliary dyskinesia|DNAH5-related disorder|Primary ciliary dyskinesia 3
β
β
ββ2026β Residue 1454
NM_001369.3(DNAH5):c.5647C>T (p.Arg1883Ter)Pathogenic
not provided|Primary ciliary dyskinesia|DNAH5-related disorder|Primary ciliary dyskinesia 3
β
β
ββ2026β Residue 1883
NM_001369.3(DNAH5):c.8383C>T (p.Arg2795Ter)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 3
β
β
ββ2026β Residue 2795
NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter)Pathogenic
Inborn genetic diseases|Primary ciliary dyskinesia|Primary ciliary dyskinesia 3
β
β
ββ2026β Residue 2639
NM_001369.3(DNAH5):c.3905del (p.Leu1302fs)Pathogenic
Primary ciliary dyskinesia|not provided
β
β
ββ2026β Residue 1302
NM_001369.3(DNAH5):c.8314C>T (p.Arg2772Ter)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 3|not provided
β
β
ββ2026β Residue 2772
NM_001369.3(DNAH5):c.1852C>T (p.Arg618Ter)Pathogenic
Primary ciliary dyskinesia|not provided|Primary ciliary dyskinesia 3|Primary ciliary dyskinesia 7
β
β
ββ2026β Residue 618
NM_001369.3(DNAH5):c.6427G>T (p.Glu2143Ter)Pathogenic
not provided|Primary ciliary dyskinesia
β
β
ββ2026β Residue 2143
NM_001369.3(DNAH5):c.9694C>T (p.Gln3232Ter)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 3
β
β
ββ2026β Residue 3232
NM_001369.3(DNAH5):c.9065C>A (p.Ser3022Ter)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 3
β
β
ββ2026β Residue 3022
NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 3|not provided
β
β
ββ2026β Residue 1889
NM_001369.3(DNAH5):c.2744-2A>TLikely pathogenic
Primary ciliary dyskinesia
β
β
ββ2026
NM_001369.3(DNAH5):c.12287G>A (p.Trp4096Ter)Pathogenic
Primary ciliary dyskinesia
β
β
ββ2026β Residue 4096
NM_001369.3(DNAH5):c.5563dup (p.Ile1855fs)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 3|not provided
β
β
ββ2026β Residue 1855
NM_001369.3(DNAH5):c.8404C>T (p.Gln2802Ter)Pathogenic
Primary ciliary dyskinesia|not provided|Respiratory ciliopathies including non-CF bronchiectasis|Primary ciliary dyskinesia 3
β
β
ββ2026β Residue 2802
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 3
β
β
ββ2026β Residue 2013