| 基因名 | 突变 |
|---|---|
| MTERFD3(NM_001033050,MTERF domain containing 3,385aa) | g.12:107372251G>C,c.242C>G,p.A81G |
| MTERFD3(NM_001033050,MTERF domain containing 3,385aa) | g.12:107372183C>G,c.310G>C,p.A104P |
| MTERFD3(NM_001033050,MTERF domain containing 3,385aa) | g.12:107372162C>T,c.331G>A,p.A111T |
| MTERFD2(NM_182501,MTERF domain containing 2,381aa) | g.2:242039210G>A,c.121C>T,p.R41C |
| MTERFD2(NM_182501,MTERF domain containing 2,381aa) | g.2:242039209C>T,c.122G>A,p.R41H |
| MTERFD2(NM_182501,MTERF domain containing 2,381aa) | g.2:242039198T>C,c.133A>G,p.T45A |
| MTERFD2(NM_182501,MTERF domain containing 2,381aa) | g.2:242038813T>C,c.518A>G,p.E173G |
| MTERFD2(NM_182501,MTERF domain containing 2,381aa) | g.2:242036797A>G,c.566T>C,p.M189T |
| MTERFD2(NM_182501,MTERF domain containing 2,381aa) | g.2:242035544G>C,c.1015C>G,p.L339V |
| MTERFD2(NM_182501,MTERF domain containing 2,381aa) | g.2:242035520C>G,c.1039G>C,p.D347H |
| MTERFD2(NM_182501,MTERF domain containing 2,381aa) | g.2:242035516_242035518del,c.1041_1043del,p.347_348del |
| MTERFD2(NM_182501,MTERF domain containing 2,381aa) | g.2:242035466C>T,c.1093G>A,p.D365N |
| MTERFD2(NM_182501,MTERF domain containing 2,381aa) | g.2:242035425G>C,c.1134C>G,p.D378E |
| MTERFD1(NM_015942,MTERF domain containing 1,417aa) | g.8:97269324G>T,c.353C>A,p.P118Q |
| MTERFD1(NM_015942,MTERF domain containing 1,417aa) | g.8:97269313T>C,c.364A>G,p.M122V |
| MTERFD1(NM_015942,MTERF domain containing 1,417aa) | g.8:97269208G>C,c.469C>G,p.Q157E |
| MTERFD1(NM_015942,MTERF domain containing 1,417aa) | g.8:97263180T>G,c.631A>C,p.K211Q |
| MTERFD1(NM_015942,MTERF domain containing 1,417aa) | g.8:97258581T>A,c.779A>T,p.N260I |
| MTERFD1(NM_015942,MTERF domain containing 1,417aa) | g.8:97256263T>C,c.943A>G,p.M315V |
| MTDH(NM_178812,metadherin,582aa) | g.8:98703317A>G,c.949A>G,p.T317A |
| MTDH(NM_178812,metadherin,582aa) | g.8:98657041C>G,c.307C>G,p.L103V |
| MTDH(NM_178812,metadherin,582aa) | g.8:98656966G>T,c.232G>T,p.A78S |
| MTDH(NM_178812,metadherin,582aa) | g.8:98656894G>A,c.160G>A,p.V54M |
| MTCH2(NM_014342,mitochondrial carrier 2,303aa) | g.11:47663986C>T,c.32G>A,p.G11D |
| MTCH2(NM_014342,mitochondrial carrier 2,303aa) | g.11:47656268C>T,c.325G>A,p.V109I |
| MTCH2(NM_014342,mitochondrial carrier 2,303aa) | g.11:47653256C>T,c.377G>A,p.R126Q |
| MTCH2(NM_014342,mitochondrial carrier 2,303aa) | g.11:47652637T>C,c.430A>G,p.I144V |
| MTCH2(NM_014342,mitochondrial carrier 2,303aa) | g.11:47652148T>C,c.498A>G,p.I166M |