| Genename | Variants |
|---|---|
| DNHD1(NM_144666,dynein heavy chain domain 1,4753aa) | g.11:6524134G>A,c.898G>A,p.V300M |
| DNHD1(NM_144666,dynein heavy chain domain 1,4753aa) | g.11:6524126A>G,c.890A>G,p.Y297C |
| DNHD1(NM_144666,dynein heavy chain domain 1,4753aa) | g.11:6524072A>C,c.836A>C,p.Q279P |
| DNHD1(NM_144666,dynein heavy chain domain 1,4753aa) | g.11:6520164T>A,c.719T>A,p.V240E |
| DNHD1(NM_144666,dynein heavy chain domain 1,4753aa) | g.11:6520002G>A,c.557G>A,p.R186Q |
| DNHD1(NM_144666,dynein heavy chain domain 1,4753aa) | g.11:6519642G>A,c.197G>A,p.R66Q |
| DNHD1(NM_144666,dynein heavy chain domain 1,4753aa) | g.11:6519581G>A,c.136G>A,p.V46M |
| DNHD1(NM_144666,dynein heavy chain domain 1,4753aa) | g.11:6519561A>G,c.116A>G,p.Q39R |
| DNHD1(NM_144666,dynein heavy chain domain 1,4753aa) | g.11:6519515C>A,c.70C>A,p.H24N |
| DNER(NM_139072,delta/notch-like EGF repeat containing,737aa) | g.2:230579019G>A,c.121C>T,p.P41S |
| DNER(NM_139072,delta/notch-like EGF repeat containing,737aa) | g.2:230456456G>A,c.425C>T,p.T142I |
| DNER(NM_139072,delta/notch-like EGF repeat containing,737aa) | g.2:230456445C>T,c.436G>A,p.E146K |
| DNER(NM_139072,delta/notch-like EGF repeat containing,737aa) | g.2:230450693G>A,c.728C>T,p.T243M |
| DNER(NM_139072,delta/notch-like EGF repeat containing,737aa) | g.2:230450646T>A,c.775A>T,p.T259S |
| DNER(NM_139072,delta/notch-like EGF repeat containing,737aa) | g.2:230231749C>T,c.1942G>A,p.V648M |
| DND1(NM_194249,DND microRNA-mediated repression inhibitor 1,353aa) | g.5:140052430G>T,c.204C>A,p.D68E |
| DND1(NM_194249,DND microRNA-mediated repression inhibitor 1,353aa) | g.5:140052407G>A,c.227C>T,p.P76L |
| DND1(NM_194249,DND microRNA-mediated repression inhibitor 1,353aa) | g.5:140052320T>C,c.314A>G,p.Y105C |
| DND1(NM_194249,DND microRNA-mediated repression inhibitor 1,353aa) | g.5:140051266C>T,c.674G>A,p.R225H |
| DND1(NM_194249,DND microRNA-mediated repression inhibitor 1,353aa) | g.5:140051174G>A,c.766C>T,p.R256W |
| DND1(NM_194249,DND microRNA-mediated repression inhibitor 1,353aa) | g.5:140051018C>T,c.922G>A,p.V308M |
| DND1(NM_194249,DND microRNA-mediated repression inhibitor 1,353aa) | g.5:140050907C>T,c.1033G>A,p.A345T |
| DND1(NM_194249,DND microRNA-mediated repression inhibitor 1,353aa) | g.5:140050894G>C,c.1046C>G,p.T349S |
| DNASE2(NM_001375,deoxyribonuclease II, lysosomal,360aa) | g.19:12991919G>C,c.134C>G,p.A45G |
| DNASE2(NM_001375,deoxyribonuclease II, lysosomal,360aa) | g.19:12991833del,c.220del,p.74fs |
| DNASE2(NM_001375,deoxyribonuclease II, lysosomal,360aa) | g.19:12989289C>T,c.616G>A,p.V206I |
| DNASE2B(NM_021233,deoxyribonuclease II beta,361aa) | g.1:84880427G>A,c.962G>A,p.C321Y |
| DNASE2B(NM_021233,deoxyribonuclease II beta,361aa) | g.1:84880348C>T,c.883C>T,p.R295X |