| 基因名 | 突变 |
|---|---|
| TTC17(NM_018259,tetratricopeptide repeat domain 17,1141aa) | g.11:43400862A>G,c.239A>G,p.K80R |
| TTC16(NM_144965,tetratricopeptide repeat domain 16,873aa) | g.9:130493627C>A,c.2565C>A,p.S855R |
| TTC16(NM_144965,tetratricopeptide repeat domain 16,873aa) | g.9:130493488A>G,c.2426A>G,p.Y809C |
| TTC16(NM_144965,tetratricopeptide repeat domain 16,873aa) | g.9:130493167T>C,c.2105T>C,p.I702T |
| TTC16(NM_144965,tetratricopeptide repeat domain 16,873aa) | g.9:130493020C>T,c.1958C>T,p.T653M |
| TTC16(NM_144965,tetratricopeptide repeat domain 16,873aa) | g.9:130493004T>G,c.1942T>G,p.S648A |
| TTC16(NM_144965,tetratricopeptide repeat domain 16,873aa) | g.9:130492981C>T,c.1919C>T,p.A640V |
| TTC16(NM_144965,tetratricopeptide repeat domain 16,873aa) | g.9:130489743A>G,c.1763A>G,p.E588G |
| TTC16(NM_144965,tetratricopeptide repeat domain 16,873aa) | g.9:130489728_130489730del,c.1748_1750del,p.583_584del |
| TTC16(NM_144965,tetratricopeptide repeat domain 16,873aa) | g.9:130489682A>G,c.1702A>G,p.S568G |
| TTC16(NM_144965,tetratricopeptide repeat domain 16,873aa) | g.9:130488631G>C,c.1373G>C,p.G458A |
| TTC16(NM_144965,tetratricopeptide repeat domain 16,873aa) | g.9:130488607G>A,c.1349G>A,p.R450Q |
| TTC16(NM_144965,tetratricopeptide repeat domain 16,873aa) | g.9:130488605C>A,c.1347C>A,p.S449R |
| TTC16(NM_144965,tetratricopeptide repeat domain 16,873aa) | g.9:130486475G>A,c.949G>A,p.E317K |
| TTC16(NM_144965,tetratricopeptide repeat domain 16,873aa) | g.9:130486413G>A,c.887G>A,p.R296Q |
| TTC16(NM_144965,tetratricopeptide repeat domain 16,873aa) | g.9:130485611C>T,c.871C>T,p.R291W |
| TTC16(NM_144965,tetratricopeptide repeat domain 16,873aa) | g.9:130485555A>G,c.815A>G,p.Q272R |
| TTC16(NM_144965,tetratricopeptide repeat domain 16,873aa) | g.9:130485476A>C,c.736A>C,p.K246Q |
| TTC16(NM_144965,tetratricopeptide repeat domain 16,873aa) | g.9:130482613A>T,c.596A>T,p.Q199L |
| TTC16(NM_144965,tetratricopeptide repeat domain 16,873aa) | g.9:130480025C>T,c.400C>T,p.R134C |
| TTC16(NM_144965,tetratricopeptide repeat domain 16,873aa) | g.9:130479981G>A,c.356G>A,p.R119Q |
| TTC16(NM_144965,tetratricopeptide repeat domain 16,873aa) | g.9:130479680G>A,c.259G>A,p.A87T |
| TTC16(NM_144965,tetratricopeptide repeat domain 16,873aa) | g.9:130479638G>A,c.217G>A,p.E73K |
| TTC14(NM_001042601,tetratricopeptide repeat domain 14,439aa) | g.3:180325561C>G,c.1298C>G,p.P433R |
| TTC14(NM_001042601,tetratricopeptide repeat domain 14,439aa) | g.3:180324274C>T,c.1055C>T,p.A352V |
| TTC14(NM_001042601,tetratricopeptide repeat domain 14,439aa) | g.3:180322041C>T,c.515C>T,p.S172F |
| TTC14(NM_001042601,tetratricopeptide repeat domain 14,439aa) | g.3:180320723C>T,c.206C>T,p.S69F |
| TTC13(NM_024525,tetratricopeptide repeat domain 13,860aa) | g.1:231114465C>G,c.112G>C,p.G38R |