| 基因名 | 突变 |
|---|---|
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134736052G>T,c.1417C>A,p.R473S |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134733644G>A,c.1649C>T,p.A550V |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134732863A>G,c.1814T>C,p.L605P |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134730168G>A,c.2005C>T,p.R669W |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134726261A>C,c.2397T>G,p.I799M |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134726179C>T,c.2479G>A,p.E827K |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134712537C>T,c.3145G>A,p.V1049I |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134699391T>C,c.3377A>G,p.D1126G |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134699337G>A,c.3431C>T,p.T1144M |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134698750C>T,c.3484G>A,p.G1162R |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134698678G>A,c.3556C>T,p.R1186C |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134698654C>T,c.3580G>A,p.V1194M |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134698626T>C,c.3608A>G,p.N1203S |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134694526A>G,c.3638T>C,p.M1213T |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134694391A>G,c.3773T>C,p.V1258A |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134693118C>G,c.3817G>C,p.E1273Q |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134692953C>T,c.3982G>A,p.A1328T |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134691434T>C,c.4163A>G,p.E1388G |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134690395G>A,c.4283C>T,p.S1428F |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134686253C>T,c.4438G>A,p.V1480I |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134686228G>A,c.4463C>T,p.S1488L |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134682833C>T,c.4555G>A,p.A1519T |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134682802C>T,c.4586G>A,p.C1529Y |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134682781G>A,c.4607C>T,p.A1536V |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134680995C>T,c.4627G>A,p.A1543T |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134672702G>A,c.5248C>T,p.P1750S |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134672609C>T,c.5341G>A,p.V1781I |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134671153C>T,c.5515G>A,p.A1839T |