| 基因名 | 突变 |
|---|---|
| TTC21B(NM_024753,tetratricopeptide repeat domain 21B,1316aa) | g.2:166767849C>A,c.2449G>T,p.A817S |
| TTC21B(NM_024753,tetratricopeptide repeat domain 21B,1316aa) | g.2:166758420C>T,c.2569G>A,p.A857T |
| TTC21B(NM_024753,tetratricopeptide repeat domain 21B,1316aa) | g.2:166758416C>T,c.2573G>A,p.R858Q |
| TTC21B(NM_024753,tetratricopeptide repeat domain 21B,1316aa) | g.2:166758402G>A,c.2587C>T,p.R863W |
| TTC21B(NM_024753,tetratricopeptide repeat domain 21B,1316aa) | g.2:166758283del,c.2706del,p.902fs |
| TTC21B(NM_024753,tetratricopeptide repeat domain 21B,1316aa) | g.2:166747445G>C,c.3004C>G,p.L1002V |
| TTC21B(NM_024753,tetratricopeptide repeat domain 21B,1316aa) | g.2:166737207G>A,c.3787C>T,p.R1263W |
| TTC21B(NM_024753,tetratricopeptide repeat domain 21B,1316aa) | g.2:166737206C>T,c.3788G>A,p.R1263Q |
| TTC21B(NM_024753,tetratricopeptide repeat domain 21B,1316aa) | g.2:166737197G>A,c.3797C>T,p.P1266L |
| TTC21B(NM_024753,tetratricopeptide repeat domain 21B,1316aa) | g.2:166731284C>T,c.3932G>A,p.R1311H |
| TTC21A(NM_145755,tetratricopeptide repeat domain 21A,1320aa) | g.3:39180263G>A,c.3947G>A,p.R1316K |
| TTC21A(NM_145755,tetratricopeptide repeat domain 21A,1320aa) | g.3:39180100G>A,c.3871G>A,p.E1291K |
| TTC21A(NM_145755,tetratricopeptide repeat domain 21A,1320aa) | g.3:39179109A>G,c.3604A>G,p.K1202E |
| TTC21A(NM_145755,tetratricopeptide repeat domain 21A,1320aa) | g.3:39178808G>A,c.3401G>A,p.R1134Q |
| TTC21A(NM_145755,tetratricopeptide repeat domain 21A,1320aa) | g.3:39178787G>A,c.3380G>A,p.R1127Q |
| TTC21A(NM_145755,tetratricopeptide repeat domain 21A,1320aa) | g.3:39178745G>A,c.3338G>A,p.R1113H |
| TTC21A(NM_145755,tetratricopeptide repeat domain 21A,1320aa) | g.3:39178541G>A,c.3268G>A,p.A1090T |
| TTC21A(NM_145755,tetratricopeptide repeat domain 21A,1320aa) | g.3:39178437G>T,c.3164G>T,p.R1055L |
| TTC21A(NM_145755,tetratricopeptide repeat domain 21A,1320aa) | g.3:39176660C>T,c.2960C>T,p.A987V |
| TTC21A(NM_145755,tetratricopeptide repeat domain 21A,1320aa) | g.3:39174721C>G,c.2762C>G,p.T921S |
| TTC21A(NM_145755,tetratricopeptide repeat domain 21A,1320aa) | g.3:39174696A>G,c.2737A>G,p.K913E |
| TTC21A(NM_145755,tetratricopeptide repeat domain 21A,1320aa) | g.3:39170677G>A,c.2032G>A,p.V678M |
| TTC21A(NM_145755,tetratricopeptide repeat domain 21A,1320aa) | g.3:39170626C>T,c.1981C>T,p.R661C |
| TTC21A(NM_145755,tetratricopeptide repeat domain 21A,1320aa) | g.3:39170370C>T,c.1864C>T,p.R622W |
| TTC21A(NM_145755,tetratricopeptide repeat domain 21A,1320aa) | g.3:39166625G>A,c.1189G>A,p.V397M |
| TTC21A(NM_145755,tetratricopeptide repeat domain 21A,1320aa) | g.3:39161464G>A,c.877G>A,p.E293K |
| TTC21A(NM_145755,tetratricopeptide repeat domain 21A,1320aa) | g.3:39161456G>A,c.869G>A,p.R290K |
| TTC21A(NM_145755,tetratricopeptide repeat domain 21A,1320aa) | g.3:39152345G>A,c.272G>A,p.R91Q |