| 基因名 | 突变 |
|---|---|
| CLSPN(NM_022111,claspin,1339aa) | g.1:36214104G>T,c.2374C>A,p.Q792K |
| CLSPN(NM_022111,claspin,1339aa) | g.1:36213640G>A,c.2495C>T,p.P832L |
| CLSPN(NM_022111,claspin,1339aa) | g.1:36212547G>T,c.2674C>A,p.P892T |
| CLSPN(NM_022111,claspin,1339aa) | g.1:36209093C>T,c.3005G>A,p.R1002Q |
| CLSPN(NM_022111,claspin,1339aa) | g.1:36208757T>G,c.3128A>C,p.K1043T |
| CLSPN(NM_022111,claspin,1339aa) | g.1:36204823C>T,c.3344G>A,p.R1115H |
| CLSPN(NM_022111,claspin,1339aa) | g.1:36204057A>G,c.3557T>C,p.M1186T |
| CLSPN(NM_022111,claspin,1339aa) | g.1:36203660_36203662del,c.3595_3597del,p.1199del |
| CLSPN(NM_022111,claspin,1339aa) | g.1:36203016C>T,c.3671G>A,p.R1224H |
| CLSPN(NM_022111,claspin,1339aa) | g.1:36203011T>C,c.3676A>G,p.M1226V |
| CLSPN(NM_022111,claspin,1339aa) | g.1:36202585G>A,c.3839C>T,p.S1280L |
| CLRN3(NM_152311,clarin 3,226aa) | g.10:129690837G>T,c.212C>A,p.P71Q |
| CLRN3(NM_152311,clarin 3,226aa) | g.10:129690826A>T,c.223T>A,p.F75I |
| CLRN3(NM_152311,clarin 3,226aa) | g.10:129676576G>A,c.518C>T,p.T173M |
| CLRN3(NM_152311,clarin 3,226aa) | g.10:129676562C>T,c.532G>A,p.G178R |
| CLRN3(NM_152311,clarin 3,226aa) | g.10:129676520T>C,c.574A>G,p.I192V |
| CLRN2(NM_001079827,clarin 2,232aa) | g.4:17528677C>T,c.671C>T,p.T224M |
| CLRN2(NM_001079827,clarin 2,232aa) | g.4:17528602A>T,c.596A>T,p.H199L |
| CLRN2(NM_001079827,clarin 2,232aa) | g.4:17528463G>A,c.457G>A,p.A153T |
| CLRN2(NM_001079827,clarin 2,232aa) | g.4:17524570C>G,c.337C>G,p.L113V |
| CLRN2(NM_001079827,clarin 2,232aa) | g.4:17517125G>T,c.236G>T,p.R79L |
| CLRN2(NM_001079827,clarin 2,232aa) | g.4:17517103C>T,c.214C>T,p.R72W |
| CLRN1(NM_001256819,clarin 1,185aa) | g.3:150690487G>T,c.9C>A,p.S3R |
| CLRN1(NM_001256819,clarin 1,185aa) | g.3:150690476T>A,c.20A>T,p.K7I |
| CLRN1(NM_001256819,clarin 1,185aa) | g.3:150690278T>C,c.218A>G,p.Q73R |
| CLRN1(NM_001256819,clarin 1,185aa) | g.3:150661734G>A,c.298C>T,p.H100Y |
| CLRN1(NM_001256819,clarin 1,185aa) | g.3:150661650C>A,c.382G>T,p.A128S |
| CLPX(NM_006660,caseinolytic mitochondrial matrix peptidase chaperone subunit,633aa) | g.15:65477451A>G,c.41T>C,p.V14A |