Table A2.
Complete list of VUS identified.
| PCD Genes | Unique Variants |
|---|---|
| DNAAF2 | c.58G > C (p.Val20Leu) |
| DNAAF4 | c.186C > G (p.Ser62Arg) |
| DNAH11 | c.8888C > A (p.Ser2963Tyr) |
| DNAAF5 | c.969C > A (p.Asp323Glu) |
| DNAAF3 | c.1672G > T (p.Glu558*) |
| SPAG1 | c.2717A > G (p.Asp906Gly) |
| CCDC103 | c.82C > T (p.Arg28Trp) |
| CCDC40 | c.1109G > A (p.Arg370His) |
| DNAI2 | c.1153G > A (p.Asp385Asn) |
| CCNO | c.685G > A (p.Gly229Ser) |
| RSPH4A | c.902A > C (p.Gln301Pro) |
| CFAP298 | c.803C > T (p.Pro268Leu) |
| RSPH1 | c.824G > A (p.Arg275Gln) |
| RSPH1 | c.673C > T (p.Pro225Ser) |
| CCDC103 | c.146G > C (p.Gly49Ala) |
| DNAH5 | c.6409C > A (p.Leu2137Ile) |
| DNAH5 | c.5413C > T (p.Arg1805Cys) |
| DNAH5 | c.2577+5T > G (Intronic) |
| DNAH5 | c.477C > T (Silent) |
| DNAH5 | c.8398G > A (p.Val2800Ile) |
| DNAAF5 | c.1471-3C > T (Intronic) |
| DNAH11 | c.6273 + 12C > G (Intronic) |
| DNAH11 | c.10379C > T (p.Thr3460Met) |
| DNAH11 | c.11098G > C (p.Glu3700Gln) |
| DNAH11 | c.3739A > C (p.Ile1247Leu) |
| DNAH11 | c.5434G > A (p.Val1812Met) |
| DNAH11 | c.3288G > A (p.Met1096Ile) |
| DNAH11 | c.6154C > T (p.Leu2052Phe) |
| DNAH11 | c.11678C > T (p.Thr3893Met) |
| DNAH11 | c.13243A > C (p.Lys4415Gln) |
| DNAH9 | c.3128A > T (p.His1043Leu) |
| DNAH9 | c.3593G > C (p.Trp1198Ser) |
| DNAH9 | c.4070C > A (p.Thr1357Lys) |
| DNAH9 | c.1562A > T (p.Asp521Val) |
| DNAH9 | c.1603G > A (p.Asp535Asn) |
| DNAAF2 | c.10G > A (p.Ala4Thr) |
| DNAAF2 | c.700C > T (p.Pro234Ser) |
| DNAAF2 | c.1082_1087dup (p.Val361_Ala362dup) |
| DNAH1 | c.7064C > T (p.Pro2355Leu) |
| DNAH1 | c.3877G > A (p.Asp1293Asn) |
| DNAH1 | c.1610G > A (p.Ser537Asn) |
| DNAH1 | c.6650T > C (p.Leu2217Pro) |
| DNAH1 | c.10208G > T (p.Gly3403Val) |
| DNAH1 | c.7905G > C (p.Gln2635His) |
| DNAH1 | c.9646C > G (p.Leu3216Val) |
| DNAH1 | c.8491C > A (p.Arg2831Ser) |
| DNAAF5 | c.412T > G (p.Cys138Gly) |
| DNAAF5 | c.221C > A (p.Ala74Glu) |
| DNAAF5 | c.1195G > A (p.Glu399Lys) |
| DNAAF5 | c.454G > A (p.Ala152Thr) |
| DNAH5 | c.12709G > T (p.Val4237Phe) |
| DNAH5 | c.10731C > G (p.Asn3577Lys) |
| DNAH5 | c.1438C > T (p.Leu480Phe) |
| DNAH5 | c.12523G > A (p.Val4175Met) |
| CCDC103 | c.355C > T (p.Arg119Cys) |
| CCDC103 | c.197G > A (p.Gly66Glu) |
| CCDC103 | c.301A > G (p.Thr101Ala) |
| RSPH1 | c.835C > T (p.Arg279Trp) |
| RSPH1 | c.635C > T (p.Thr212Ile) |
| DNAH8 | c.8801T > C (p.Val2934Ala) |
| DNAH8 | c.644G > A (p.Gly215Glu) |
| DNAH8 | c.7114A > G (p.Met2372Val) |
| DNAH8 | c.13607T > C (p.Leu4536Pro) |
| DNAH8 | c.2096G > A (p.Arg699His) |
| DNAH8 | c.9839A > T (p.Gln3280Leu) |
| DNAH8 | c.9811G > T (p.Ala3271Ser) |
| CFAP298 | c.534+4C > T (Intronic) |
| DNAAF3 | c.623T > C (p.Leu208Pro) |
| DNAAF3 | c.1615G > A (p.Gly539Arg) |
| CCNO | c.16C > A (p.Pro6Thr) |
| CCDC40 | c.1076G > A (p.Arg359His) |
| DNAI2 | c.487A > G (p.Arg163Gly) |
| CCDC39 | c.1229A > G (p.Gln410Arg) |
| CCDC39 | c.692T > C (p.Ile231Thr) |
| CCDC39 | c.2057A > G (p.Asn686Ser) |
| CCDC151 | c.619C > T (p.Arg207Trp) |
| CCDC65 | c.1067T > C (p.Phe356Ser) |
| CCDC65 | c.771G > T (p.Glu257Asp) |
| RSPH3 | c.895G > C (p.Ala299Pro) |
| NME8 | c.88A > G (p.Thr30Ala) |
| GAS8 | c.1255G > A (p.Asp419Asn) |
| LRRC56 | c.52G > T (p.Val18Phe) |
| OFD1 | c.2584T > G (p.Ser862Ala) |
| RSPH9 | c.98T > C (p.Met33Thr) |