| 基因名 | 突变 |
|---|---|
| TTC38(NM_017931,tetratricopeptide repeat domain 38,469aa) | g.22:46682976C>T,c.841C>T,p.P281S |
| TTC38(NM_017931,tetratricopeptide repeat domain 38,469aa) | g.22:46681141G>A,c.799G>A,p.E267K |
| TTC38(NM_017931,tetratricopeptide repeat domain 38,469aa) | g.22:46679924G>C,c.790G>C,p.E264Q |
| TTC38(NM_017931,tetratricopeptide repeat domain 38,469aa) | g.22:46677607T>C,c.727T>C,p.F243L |
| TTC38(NM_017931,tetratricopeptide repeat domain 38,469aa) | g.22:46677505A>G,c.625A>G,p.I209V |
| TTC38(NM_017931,tetratricopeptide repeat domain 38,469aa) | g.22:46671307del,c.528del,p.176fs |
| TTC38(NM_017931,tetratricopeptide repeat domain 38,469aa) | g.22:46669938G>A,c.337G>A,p.V113M |
| TTC38(NM_017931,tetratricopeptide repeat domain 38,469aa) | g.22:46664412C>T,c.35C>T,p.A12V |
| TTC38(NM_017931,tetratricopeptide repeat domain 38,469aa) | g.22:46664409A>G,c.34-2A>G,p.12Acceptor |
| TTC37(NM_014639,tetratricopeptide repeat domain 37,1564aa) | g.5:94878992C>T,c.130G>A,p.V44I |
| TTC37(NM_014639,tetratricopeptide repeat domain 37,1564aa) | g.5:94865856C>T,c.829G>A,p.G277S |
| TTC37(NM_014639,tetratricopeptide repeat domain 37,1564aa) | g.5:94864735G>A,c.964C>T,p.P322S |
| TTC37(NM_014639,tetratricopeptide repeat domain 37,1564aa) | g.5:94861118G>C,c.1309C>G,p.L437V |
| TTC37(NM_014639,tetratricopeptide repeat domain 37,1564aa) | g.5:94860194G>C,c.1427C>G,p.T476R |
| TTC37(NM_014639,tetratricopeptide repeat domain 37,1564aa) | g.5:94858001C>T,c.1768G>A,p.A590T |
| TTC37(NM_014639,tetratricopeptide repeat domain 37,1564aa) | g.5:94857961G>A,c.1808C>T,p.S603L |
| TTC37(NM_014639,tetratricopeptide repeat domain 37,1564aa) | g.5:94857860T>C,c.1909A>G,p.K637E |
| TTC37(NM_014639,tetratricopeptide repeat domain 37,1564aa) | g.5:94852916A>G,c.2225T>C,p.V742A |
| TTC37(NM_014639,tetratricopeptide repeat domain 37,1564aa) | g.5:94852753C>T,c.2303G>A,p.R768H |
| TTC37(NM_014639,tetratricopeptide repeat domain 37,1564aa) | g.5:94852713G>T,c.2343C>A,p.D781E |
| TTC37(NM_014639,tetratricopeptide repeat domain 37,1564aa) | g.5:94852680A>C,c.2376T>G,p.H792Q |
| TTC37(NM_014639,tetratricopeptide repeat domain 37,1564aa) | g.5:94842651C>T,c.3079G>A,p.G1027S |
| TTC37(NM_014639,tetratricopeptide repeat domain 37,1564aa) | g.5:94839536A>G,c.3199T>C,p.Y1067H |
| TTC37(NM_014639,tetratricopeptide repeat domain 37,1564aa) | g.5:94839528C>G,c.3207G>C,p.E1069D |
| TTC37(NM_014639,tetratricopeptide repeat domain 37,1564aa) | g.5:94833131G>A,c.3625C>T,p.R1209X |
| TTC37(NM_014639,tetratricopeptide repeat domain 37,1564aa) | g.5:94833130C>T,c.3626G>A,p.R1209Q |
| TTC37(NM_014639,tetratricopeptide repeat domain 37,1564aa) | g.5:94826655C>A,c.3888G>T,p.R1296S |
| TTC37(NM_014639,tetratricopeptide repeat domain 37,1564aa) | g.5:94820541C>T,c.3940G>A,p.E1314K |