| 基因名 | 突变 |
|---|---|
| CLCN1(NM_000083,chloride channel, voltage-sensitive 1,988aa) | g.7:143017807G>T,c.352G>T,p.G118W |
| CLCN1(NM_000083,chloride channel, voltage-sensitive 1,988aa) | g.7:143017768C>T,c.313C>T,p.R105C |
| CLCN1(NM_000083,chloride channel, voltage-sensitive 1,988aa) | g.7:143013444C>T,c.139C>T,p.R47W |
| CLCN1(NM_000083,chloride channel, voltage-sensitive 1,988aa) | g.7:143013391A>C,c.86A>C,p.H29P |
| CLCN1(NM_000083,chloride channel, voltage-sensitive 1,988aa) | g.7:143013331G>A,c.26G>A,p.R9H |
| CLCN1(NM_000083,chloride channel, voltage-sensitive 1,988aa) | g.7:143013319G>A,c.14G>A,p.R5Q |
| CLCF1(NM_013246,cardiotrophin-like cytokine factor 1,225aa) | g.11:67135010C>A,c.104G>T,p.G35V |
| CLCF1(NM_013246,cardiotrophin-like cytokine factor 1,225aa) | g.11:67134974G>C,c.140C>G,p.T47S |
| CLCF1(NM_013246,cardiotrophin-like cytokine factor 1,225aa) | g.11:67132927G>A,c.358C>T,p.L120F |
| CLCF1(NM_013246,cardiotrophin-like cytokine factor 1,225aa) | g.11:67132920C>T,c.365G>A,p.R122H |
| CLCF1(NM_013246,cardiotrophin-like cytokine factor 1,225aa) | g.11:67132804G>A,c.481C>T,p.P161S |
| CLCF1(NM_013246,cardiotrophin-like cytokine factor 1,225aa) | g.11:67132803G>A,c.482C>T,p.P161L |
| CLCF1(NM_013246,cardiotrophin-like cytokine factor 1,225aa) | g.11:67132619_67132625del,c.660_666del,p.220fs |
| CLCC1(NM_001048210,chloride channel CLIC-like 1,551aa) | g.1:109492497G>A,c.176C>T,p.S59L |
| CLCC1(NM_001048210,chloride channel CLIC-like 1,551aa) | g.1:109486594T>C,c.425A>G,p.N142S |
| CLCC1(NM_001048210,chloride channel CLIC-like 1,551aa) | g.1:109486541T>G,c.478A>C,p.I160L |
| CLCC1(NM_001048210,chloride channel CLIC-like 1,551aa) | g.1:109482304G>A,c.995C>T,p.A332V |
| CLCC1(NM_001048210,chloride channel CLIC-like 1,551aa) | g.1:109479978G>T,c.1104C>A,p.S368R |
| CLCC1(NM_001048210,chloride channel CLIC-like 1,551aa) | g.1:109479959G>A,c.1123C>T,p.R375W |
| CLCC1(NM_001048210,chloride channel CLIC-like 1,551aa) | g.1:109477470G>A,c.1478C>T,p.S493L |
| CLCC1(NM_001048210,chloride channel CLIC-like 1,551aa) | g.1:109477462G>C,c.1486C>G,p.P496A |
| CLCA4(NM_012128,chloride channel accessory 4,919aa) | g.1:87045924A>G,c.2656A>G,p.T886A |
| CLCA4(NM_012128,chloride channel accessory 4,919aa) | g.1:87045903_87045908del,c.2635_2640del,p.879_880del |
| CLCA4(NM_012128,chloride channel accessory 4,919aa) | g.1:87045902_87045907del,c.2634_2639del,p.878_880del |
| CLCA4(NM_012128,chloride channel accessory 4,919aa) | g.1:87045897_87045902del,c.2629_2634del,p.877_878del |
| CLCA4(NM_012128,chloride channel accessory 4,919aa) | g.1:87045799C>T,c.2531C>T,p.A844V |
| CLCA4(NM_012128,chloride channel accessory 4,919aa) | g.1:87045696G>C,c.2428G>C,p.V810L |
| CLCA4(NM_012128,chloride channel accessory 4,919aa) | g.1:87043728G>A,c.2095G>A,p.A699T |