NM_012144.4(DNAI1):c.1019+5G>CPathogenic
Primary ciliary dyskinesia|DNAI1-related disorder|Kartagener syndrome
β
β
ββ2026
NM_012144.4(DNAI1):c.48+2dupPathogenic
Kartagener syndrome|Primary ciliary dyskinesia|not provided|Inborn genetic diseases|DNAI1-related disorder
β
β
ββ2026
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp)Pathogenic
Kartagener syndrome|Primary ciliary dyskinesia|DNAI1-related disorder
β
β
ββ2026β Residue 497
NM_012144.4(DNAI1):c.180G>A (p.Ala60=)Pathogenic
Primary ciliary dyskinesia|not provided|DNAI1-related disorder|Kartagener syndrome
β
β
ββ2026β Residue 60
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr)Pathogenic
Primary ciliary dyskinesia|See cases|Kartagener syndrome|Respiratory ciliopathies including non-CF bronchiectasis
β
β
ββ2026β Residue 538
NM_012144.4(DNAI1):c.1530del (p.Asp509_Tyr510insTer)Pathogenic
Primary ciliary dyskinesia|not provided|Kartagener syndrome
β
β
ββ2025β Residue 509
NM_012144.4(DNAI1):c.565_566del (p.Leu188_Thr189insTer)Pathogenic
Kartagener syndrome|Primary ciliary dyskinesia
β
β
ββ2025β Residue 188
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser)Pathogenic
Kartagener syndrome|Primary ciliary dyskinesia|DNAI1-related disorder
β
β
ββ2025β Residue 515
NM_012144.4(DNAI1):c.155del (p.Pro52fs)Pathogenic
Primary ciliary dyskinesia
β
β
ββ2025β Residue 52
NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter)Pathogenic
Primary ciliary dyskinesia|Kartagener syndrome|not provided
β
β
ββ2025β Residue 404
NM_012144.4(DNAI1):c.885_886dup (p.Asp296fs)Pathogenic
Primary ciliary dyskinesia|Kartagener syndrome
β
β
ββ2025β Residue 296
NM_012144.4(DNAI1):c.272dup (p.Tyr91Ter)Pathogenic
Primary ciliary dyskinesia
β
β
ββ2025β Residue 91
NM_012144.4(DNAI1):c.1490-2A>GLikely pathogenic
Primary ciliary dyskinesia|not provided|Kartagener syndrome
β
β
ββ2025
NM_012144.4(DNAI1):c.1348_1352del (p.Asn450fs)Pathogenic
Primary ciliary dyskinesia|Kartagener syndrome
β
β
ββ2025β Residue 450
NM_012144.4(DNAI1):c.180+1G>APathogenic
Primary ciliary dyskinesia|Kartagener syndrome
β
β
ββ2025
NM_012144.4(DNAI1):c.1818+1G>TPathogenic
Primary ciliary dyskinesia|Kartagener syndrome
β
β
ββ2025
NM_012144.4(DNAI1):c.194_196dup (p.Phe66Ter)Pathogenic
Primary ciliary dyskinesia
β
β
ββ2025β Residue 66
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter)Pathogenic
Primary ciliary dyskinesia|Kartagener syndrome
β
β
ββ2025β Residue 548
NM_012144.4(DNAI1):c.1684G>A (p.Asp562Asn)Pathogenic
Primary ciliary dyskinesia|Kartagener syndrome
β
β
ββ2025β Residue 562
NM_012144.4(DNAI1):c.1644del (p.Ser547_Trp548insTer)Pathogenic
Primary ciliary dyskinesia|Kartagener syndrome
β
β
ββ2025β Residue 547