NM_181426.2(CCDC39):c.357+1G>CPathogenic
Primary ciliary dyskinesia 14|Primary ciliary dyskinesia|not provided|Infertility disorder|CCDC39-related disorder
β
β
ββ2026
NM_181426.2(CCDC39):c.1167+1261A>GPathogenic
Primary ciliary dyskinesia|not provided|Primary ciliary dyskinesia 14
β
β
ββ2026
NM_181426.2(CCDC39):c.610-2A>GPathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 14
β
β
ββ2026
NM_181426.2(CCDC39):c.2497_2498del (p.Gln833fs)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 14
β
β
ββ2025β Residue 833
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs)Pathogenic
Primary ciliary dyskinesia|not provided|Primary ciliary dyskinesia 14
β
β
ββ2025β Residue 277
NM_181426.2(CCDC39):c.1356C>A (p.Tyr452Ter)Pathogenic
Primary ciliary dyskinesia|Respiratory ciliopathies including non-CF bronchiectasis
β
β
ββ2025β Residue 452
NM_181426.2(CCDC39):c.1999-2A>TPathogenic
Primary ciliary dyskinesia 14|Primary ciliary dyskinesia
β
β
ββ2025
NM_181426.2(CCDC39):c.2507_2508del (p.Lys836fs)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 14
β
β
ββ2025β Residue 836
NM_181426.2(CCDC39):c.2190del (p.Glu731fs)Pathogenic
Primary ciliary dyskinesia 14|Primary ciliary dyskinesia
β
β
ββ2025β Residue 731
NM_181426.2(CCDC39):c.1665+1G>APathogenic
Primary ciliary dyskinesia|Respiratory ciliopathies including non-CF bronchiectasis
β
β
ββ2025
NM_181426.2(CCDC39):c.2358_2362del (p.Ser786fs)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 14
β
β
ββ2025β Residue 786
NM_181426.2(CCDC39):c.1072del (p.Thr358fs)Pathogenic
Primary ciliary dyskinesia 14|Primary ciliary dyskinesia|not provided
β
β
ββ2025β Residue 358
NM_181426.2(CCDC39):c.1871_1872del (p.Ile624fs)Pathogenic
Primary ciliary dyskinesia|Heterotaxy|CCDC39-related disorder|Primary ciliary dyskinesia 14
β
β
ββ2024β Residue 624
NM_181426.2(CCDC39):c.931-1G>TPathogenic
Primary ciliary dyskinesia|not provided
β
β
ββ2024
NM_181426.2(CCDC39):c.526_527del (p.Leu176fs)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 14|not provided
β
β
ββ2024β Residue 176
NM_181426.2(CCDC39):c.210+2T>CPathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 14
β
β
ββ2024
NM_181426.2(CCDC39):c.1417_1420del (p.Asn473fs)Pathogenic
Primary ciliary dyskinesia
β
β
ββ2024β Residue 473
NM_181426.2(CCDC39):c.1018_1019insG (p.His340fs)Pathogenic
Primary ciliary dyskinesia 14|Primary ciliary dyskinesia
β
β
ββ2024β Residue 340
NM_181426.2(CCDC39):c.2357_2359delinsT (p.Ser786fs)Pathogenic
Primary ciliary dyskinesia 14|Primary ciliary dyskinesia
β
β
ββ2024β Residue 786
NM_181426.2(CCDC39):c.2492_2496del (p.Met831fs)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 14
β
β
ββ2024β Residue 831