| 基因名 | 突变 |
|---|---|
| PRSS12(NM_003619,protease, serine, 12 (neurotrypsin, motopsin),875aa) | g.4:119259449C>T,c.523G>A,p.G175S |
| PRSS12(NM_003619,protease, serine, 12 (neurotrypsin, motopsin),875aa) | g.4:119256730G>A,c.718C>T,p.R240X |
| PRSS12(NM_003619,protease, serine, 12 (neurotrypsin, motopsin),875aa) | g.4:119237434G>A,c.1195C>T,p.R399C |
| PRSS12(NM_003619,protease, serine, 12 (neurotrypsin, motopsin),875aa) | g.4:119219909C>A,c.1816G>T,p.A606S |
| PRSS12(NM_003619,protease, serine, 12 (neurotrypsin, motopsin),875aa) | g.4:119216961G>A,c.1888C>T,p.R630W |
| PRSS12(NM_003619,protease, serine, 12 (neurotrypsin, motopsin),875aa) | g.4:119204126A>G,c.2180T>C,p.I727T |
| PRSS12(NM_003619,protease, serine, 12 (neurotrypsin, motopsin),875aa) | g.4:119203396G>A,c.2323C>T,p.R775X |
| PRSS12(NM_003619,protease, serine, 12 (neurotrypsin, motopsin),875aa) | g.4:119203330G>A,c.2389C>T,p.R797C |
| PRSS12(NM_003619,protease, serine, 12 (neurotrypsin, motopsin),875aa) | g.4:119203329C>T,c.2390G>A,p.R797H |
| PRSS12(NM_003619,protease, serine, 12 (neurotrypsin, motopsin),875aa) | g.4:119203243C>T,c.2476G>A,p.G826R |
| PRSS12(NM_003619,protease, serine, 12 (neurotrypsin, motopsin),875aa) | g.4:119203221C>T,c.2498G>A,p.R833Q |
| PRSS12(NM_003619,protease, serine, 12 (neurotrypsin, motopsin),875aa) | g.4:119203216C>T,c.2503G>A,p.G835R |
| PRRX2(NM_016307,paired related homeobox 2,253aa) | g.9:132484575C>T,c.706C>T,p.R236C |
| PRRX2(NM_016307,paired related homeobox 2,253aa) | g.9:132483029C>G,c.602C>G,p.S201C |
| PRRX2(NM_016307,paired related homeobox 2,253aa) | g.9:132481557A>C,c.307A>C,p.K103Q |
| PRRT4(NM_001174164,proline-rich transmembrane protein 4,899aa) | g.7:127999645C>T,c.401G>A,p.R134Q |
| PRRT4(NM_001174164,proline-rich transmembrane protein 4,899aa) | g.7:127999459G>A,c.587C>T,p.T196M |
| PRRT4(NM_001174164,proline-rich transmembrane protein 4,899aa) | g.7:127999408C>A,c.638G>T,p.R213L |
| PRRT4(NM_001174164,proline-rich transmembrane protein 4,899aa) | g.7:127999266C>T,c.694G>A,p.G232S |
| PRRT4(NM_001174164,proline-rich transmembrane protein 4,899aa) | g.7:127999257G>A,c.703C>T,p.P235S |
| PRRT4(NM_001174164,proline-rich transmembrane protein 4,899aa) | g.7:127991262G>A,c.2348C>T,p.P783L |
| PRRT4(NM_001174164,proline-rich transmembrane protein 4,899aa) | g.7:127991133G>A,c.2477C>T,p.P826L |
| PRRT3(NM_207351,proline-rich transmembrane protein 3,981aa) | g.3:9991429G>A,c.371C>T,p.S124F |
| PRRT3(NM_207351,proline-rich transmembrane protein 3,981aa) | g.3:9991388G>C,c.412C>G,p.Q138E |
| PRRT3(NM_207351,proline-rich transmembrane protein 3,981aa) | g.3:9991369G>C,c.431C>G,p.P144R |
| PRRT3(NM_207351,proline-rich transmembrane protein 3,981aa) | g.3:9991163A>G,c.637T>C,p.S213P |
| PRRT3(NM_207351,proline-rich transmembrane protein 3,981aa) | g.3:9991101C>G,c.699G>C,p.L233F |
| PRRT3(NM_207351,proline-rich transmembrane protein 3,981aa) | g.3:9990800G>C,c.1000C>G,p.R334G |