#1 | Male | 18 | Recurrent chest infections/rhinitis | 29 | Static 0 Hz | Normal DA 0% MTD 4% | [nonsense](;) [frameshift] | [c.3727G>T]; [c.13531_13532insTTCAGGCTGAAGA] [p.Glu1243*]; [p.Ala4511Valfs*13] |
#2 | Female | 15 | Recurrent chest infections/rhinitis | 6 | Static and hyperfrequent 22.6 Hz | Normal DA 0% MTD 5% | [missense](;) [frameshift] | [c.7663C>T]; [c.4410_4413del] [p.Gln2555*]; [p.Ser1470Argfs*6] |
#3 | Female | 14 | Situs inversus + recurrent chest infection | 14 | Static and hyperfrequent 12.8 Hz | Normal DA 0% MTD 7% | [nonsense](;) [nonsense] | [c.5506C>T]; [c.5636T>A] [p.Arg1836*]; [p.Leu1879*] |
#4 | Female | 7 | Recurrent chest infections/rhinitis | 14 | Slow with reduced bending 6.15 Hz | Normal DA 3% MTD 9% | [frameshift](;) [frameshift] | [c.2832dup]; [c.13240dup] [p.Gln945Serfs*10]; [p.Thr4414Asnfs*34] |
#5 | Female | 10 | Recurrent chest infections/rhinitis | 50 | Static and hyperfrequent (ND) | Normal DA 0% MTD 3% | [missense](;) [missense] | [c.6506C>T]; [c.6506C>T] [p.Ser2169Leu]; [p.Ser2169Leu] |
#6 | Female | 14 | Situs inversus + recurrent chest infection | 20 | Static and hyperfrequent 13.3 Hz | Normal DA 0% MTD 4% | [nonsense](;) [nonsense] | [c.3220G>T]; [c.13090C>T] [p.Glu1074*]; [p.Arg4364*] |
#7 | Male | 9 | Recurrent chest infections/rhinitis | 8 | Hyperfrequent 19.6 Hz | Normal DA 0% MTD 19% | [nonsense](;) [splice site] | [c.3544C>T]; [c.8798-5G>A] [p.Arg1182*] |