| 基因名 | 突变 |
|---|---|
| TTC37(NM_014639,tetratricopeptide repeat domain 37,1564aa) | g.5:94818236C>T,c.4153G>A,p.V1385I |
| TTC37(NM_014639,tetratricopeptide repeat domain 37,1564aa) | g.5:94818202T>C,c.4187A>G,p.N1396S |
| TTC37(NM_014639,tetratricopeptide repeat domain 37,1564aa) | g.5:94814011C>A,c.4348G>T,p.A1450S |
| TTC37(NM_014639,tetratricopeptide repeat domain 37,1564aa) | g.5:94805566T>C,c.4414A>G,p.T1472A |
| TTC36(NM_001080441,tetratricopeptide repeat domain 36,189aa) | g.11:118399392G>A,c.193G>A,p.G65R |
| TTC36(NM_001080441,tetratricopeptide repeat domain 36,189aa) | g.11:118399344G>C,c.145G>C,p.E49Q |
| TTC34(NM_001242672,tetratricopeptide repeat domain 34,566aa) | g.1:2704254T>C,c.107A>G,p.H36R |
| TTC34(NM_001242672,tetratricopeptide repeat domain 34,566aa) | g.1:2576959C>T,c.731G>A,p.G244E |
| TTC34(NM_001242672,tetratricopeptide repeat domain 34,566aa) | g.1:2575872C>T,c.1004G>A,p.R335H |
| TTC34(NM_001242672,tetratricopeptide repeat domain 34,566aa) | g.1:2575827T>C,c.1049A>G,p.Q350R |
| TTC33(NM_012382,tetratricopeptide repeat domain 33,262aa) | g.5:40746916A>T,c.205T>A,p.L69M |
| TTC33(NM_012382,tetratricopeptide repeat domain 33,262aa) | g.5:40716518G>A,c.518C>T,p.T173M |
| TTC33(NM_012382,tetratricopeptide repeat domain 33,262aa) | g.5:40716359G>C,c.677C>G,p.S226X |
| TTC32(NM_001008237,tetratricopeptide repeat domain 32,151aa) | g.2:20096761G>A,c.443C>T,p.A148V |
| TTC31(NM_022492,tetratricopeptide repeat domain 31,519aa) | g.2:74720296G>A,c.1511G>A,p.G504D |
| TTC31(NM_022492,tetratricopeptide repeat domain 31,519aa) | g.2:74720140C>G,c.1355C>G,p.P452R |
| TTC31(NM_022492,tetratricopeptide repeat domain 31,519aa) | g.2:74720098T>A,c.1313T>A,p.L438H |
| TTC31(NM_022492,tetratricopeptide repeat domain 31,519aa) | g.2:74720079C>T,c.1294C>T,p.P432S |
| TTC31(NM_022492,tetratricopeptide repeat domain 31,519aa) | g.2:74719816G>A,c.1205G>A,p.G402D |
| TTC31(NM_022492,tetratricopeptide repeat domain 31,519aa) | g.2:74719531C>T,c.1120C>T,p.R374W |
| TTC31(NM_022492,tetratricopeptide repeat domain 31,519aa) | g.2:74717790A>G,c.470A>G,p.N157S |
| TTC31(NM_022492,tetratricopeptide repeat domain 31,519aa) | g.2:74717554G>A,c.416G>A,p.S139N |
| TTC31(NM_022492,tetratricopeptide repeat domain 31,519aa) | g.2:74717523G>A,c.385G>A,p.A129T |
| TTC31(NM_022492,tetratricopeptide repeat domain 31,519aa) | g.2:74717466C>T,c.328C>T,p.R110C |
| TTC31(NM_022492,tetratricopeptide repeat domain 31,519aa) | g.2:74717206C>T,c.184C>T,p.R62W |
| TTC31(NM_022492,tetratricopeptide repeat domain 31,519aa) | g.2:74710514G>T,c.106G>T,p.G36C |
| TTC31(NM_022492,tetratricopeptide repeat domain 31,519aa) | g.2:74710491C>T,c.83C>T,p.A28V |
| TTC31(NM_022492,tetratricopeptide repeat domain 31,519aa) | g.2:74710238A>C,c.16A>C,p.K6Q |