| 基因名 | 突变 |
|---|---|
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27442456G>A,c.2231C>T,p.P744L |
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27442412G>A,c.2275C>T,p.L759F |
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27442403C>T,c.2284G>A,p.E762K |
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27442042C>G,c.2394G>C,p.Q798H |
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27438781C>T,c.2699G>A,p.R900H |
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27438538G>A,c.2804C>T,p.T935I |
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27438469G>A,c.2873C>T,p.A958V |
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27436890C>T,c.3317G>A,p.R1106H |
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27434099C>T,c.3440G>A,p.R1147Q |
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27426753G>A,c.3535C>T,p.R1179W |
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27426738G>A,c.3550C>T,p.R1184W |
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27425854C>T,c.3770G>A,p.R1257Q |
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27425172G>A,c.3941C>T,p.A1314V |
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27424356C>T,c.4115G>A,p.R1372Q |
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27421749C>G,c.4629G>C,p.Q1543H |
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27421108C>T,c.4711G>A,p.A1571T |
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27420009C>T,c.4937G>A,p.R1646Q |
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27414096T>A,c.5570A>T,p.E1857V |
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27413528T>C,c.5780A>G,p.K1927R |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109859014G>A,c.5473G>A,p.D1825N |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109858975C>A,c.5434C>A,p.L1812I |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109831944C>T,c.5378C>T,p.S1793L |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109831917G>A,c.5351G>A,p.R1784Q |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109793593C>A,c.5033C>A,p.P1678H |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109793424G>T,c.4864G>T,p.A1622S |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109793329C>G,c.4769C>G,p.S1590C |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109792825C>T,c.4265C>T,p.A1422V |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109779848A>G,c.4001A>G,p.Y1334C |