| 基因名 | 突变 |
|---|---|
| POM121C(NM_001099415,POM121 transmembrane nucleoporin C,987aa) | g.7:75048716G>T,c.2753C>A,p.T918N |
| POM121C(NM_001099415,POM121 transmembrane nucleoporin C,987aa) | g.7:75048701T>A,c.2768A>T,p.Q923L |
| POM121C(NM_001099415,POM121 transmembrane nucleoporin C,987aa) | g.7:75048170G>A,c.2873C>T,p.A958V |
| POM121C(NM_001099415,POM121 transmembrane nucleoporin C,987aa) | g.7:75048132G>A,c.2911C>T,p.P971S |
| POLRMT(NM_005035,polymerase (RNA) mitochondrial (DNA directed),1230aa) | g.19:632915G>A,c.112C>T,p.P38S |
| POLRMT(NM_005035,polymerase (RNA) mitochondrial (DNA directed),1230aa) | g.19:632886C>A,c.141G>T,p.Q47H |
| POLRMT(NM_005035,polymerase (RNA) mitochondrial (DNA directed),1230aa) | g.19:632849C>T,c.178G>A,p.V60M |
| POLRMT(NM_005035,polymerase (RNA) mitochondrial (DNA directed),1230aa) | g.19:630093C>T,c.269G>A,p.R90Q |
| POLRMT(NM_005035,polymerase (RNA) mitochondrial (DNA directed),1230aa) | g.19:630075C>T,c.287G>A,p.S96N |
| POLRMT(NM_005035,polymerase (RNA) mitochondrial (DNA directed),1230aa) | g.19:630035C>T,c.327G>A,p.M109I |
| POLRMT(NM_005035,polymerase (RNA) mitochondrial (DNA directed),1230aa) | g.19:629970C>T,c.392G>A,p.R131Q |
| POLRMT(NM_005035,polymerase (RNA) mitochondrial (DNA directed),1230aa) | g.19:624894T>A,c.965A>T,p.Q322L |
| POLRMT(NM_005035,polymerase (RNA) mitochondrial (DNA directed),1230aa) | g.19:624763G>A,c.1096C>T,p.P366S |
| POLRMT(NM_005035,polymerase (RNA) mitochondrial (DNA directed),1230aa) | g.19:624757C>T,c.1102G>A,p.V368I |
| POLRMT(NM_005035,polymerase (RNA) mitochondrial (DNA directed),1230aa) | g.19:623546A>G,c.1198T>C,p.F400L |
| POLRMT(NM_005035,polymerase (RNA) mitochondrial (DNA directed),1230aa) | g.19:622834C>G,c.1442G>C,p.R481P |
| POLRMT(NM_005035,polymerase (RNA) mitochondrial (DNA directed),1230aa) | g.19:622592G>A,c.1616C>T,p.S539F |
| POLRMT(NM_005035,polymerase (RNA) mitochondrial (DNA directed),1230aa) | g.19:622587C>A,c.1621G>T,p.A541S |
| POLRMT(NM_005035,polymerase (RNA) mitochondrial (DNA directed),1230aa) | g.19:622336T>G,c.1664A>C,p.E555A |
| POLRMT(NM_005035,polymerase (RNA) mitochondrial (DNA directed),1230aa) | g.19:622304G>A,c.1696C>T,p.P566S |
| POLRMT(NM_005035,polymerase (RNA) mitochondrial (DNA directed),1230aa) | g.19:622207C>T,c.1793G>A,p.R598H |
| POLRMT(NM_005035,polymerase (RNA) mitochondrial (DNA directed),1230aa) | g.19:621561C>A,c.2137G>T,p.V713L |
| POLRMT(NM_005035,polymerase (RNA) mitochondrial (DNA directed),1230aa) | g.19:621270G>A,c.2428C>T,p.P810S |
| POLRMT(NM_005035,polymerase (RNA) mitochondrial (DNA directed),1230aa) | g.19:620373C>T,c.2755G>A,p.V919I |
| POLRMT(NM_005035,polymerase (RNA) mitochondrial (DNA directed),1230aa) | g.19:619753G>A,c.2899C>T,p.R967C |
| POLRMT(NM_005035,polymerase (RNA) mitochondrial (DNA directed),1230aa) | g.19:617466A>G,c.3596T>C,p.L1199S |
| POLRMT(NM_005035,polymerase (RNA) mitochondrial (DNA directed),1230aa) | g.19:617290G>A,c.3677C>T,p.T1226I |
| POLR3K(NM_016310,polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa,108aa) | g.16:103517A>C,c.70T>G,p.S24A |