| 基因名 | 突变 |
|---|---|
| PROSER2(NM_153256,proline and serine-rich protein 2,435aa) | g.10:11894092C>T,c.16C>T,p.R6W |
| PROSER1(NM_025138,proline and serine rich 1,944aa) | g.13:39588424_39588426del,c.963_965del,p.321_322del |
| PROSER1(NM_025138,proline and serine rich 1,944aa) | g.13:39588169G>A,c.1220C>T,p.P407L |
| PROSER1(NM_025138,proline and serine rich 1,944aa) | g.13:39588002C>T,c.1387G>A,p.G463S |
| PROSER1(NM_025138,proline and serine rich 1,944aa) | g.13:39587813T>C,c.1576A>G,p.T526A |
| PROSER1(NM_025138,proline and serine rich 1,944aa) | g.13:39587756C>T,c.1633G>A,p.V545M |
| PROSER1(NM_025138,proline and serine rich 1,944aa) | g.13:39587683G>A,c.1706C>T,p.T569M |
| PROSER1(NM_025138,proline and serine rich 1,944aa) | g.13:39587677A>G,c.1712T>C,p.V571A |
| PROSER1(NM_025138,proline and serine rich 1,944aa) | g.13:39587409C>A,c.1980G>T,p.L660F |
| PROSER1(NM_025138,proline and serine rich 1,944aa) | g.13:39587123G>T,c.2266C>A,p.P756T |
| PROSER1(NM_025138,proline and serine rich 1,944aa) | g.13:39586979G>T,c.2410C>A,p.P804T |
| PROSER1(NM_025138,proline and serine rich 1,944aa) | g.13:39585591C>A,c.2746G>T,p.A916S |
| PROSC(NM_007198,proline synthetase co-transcribed homolog (bacterial),275aa) | g.8:37635567C>T,c.773C>T,p.P258L |
| PROSC(NM_007198,proline synthetase co-transcribed homolog (bacterial),275aa) | g.8:37633442T>G,c.604T>G,p.L202V |
| PROSC(NM_007198,proline synthetase co-transcribed homolog (bacterial),275aa) | g.8:37632892A>G,c.490A>G,p.I164V |
| PROSC(NM_007198,proline synthetase co-transcribed homolog (bacterial),275aa) | g.8:37630398G>A,c.445G>A,p.G149R |
| PROSC(NM_007198,proline synthetase co-transcribed homolog (bacterial),275aa) | g.8:37623835T>C,c.281T>C,p.I94T |
| PROSC(NM_007198,proline synthetase co-transcribed homolog (bacterial),275aa) | g.8:37623101A>G,c.157A>G,p.M53V |
| PROS1(NM_000313,protein S (alpha),676aa) | g.3:93646162T>C,c.166A>G,p.R56G |
| PROS1(NM_000313,protein S (alpha),676aa) | g.3:93624903G>T,c.431C>A,p.T144N |
| PROS1(NM_000313,protein S (alpha),676aa) | g.3:93624726T>C,c.503A>G,p.N168S |
| PROS1(NM_000313,protein S (alpha),676aa) | g.3:93624666T>C,c.563A>G,p.N188S |
| PROS1(NM_000313,protein S (alpha),676aa) | g.3:93619677C>T,c.698G>A,p.R233K |
| PROS1(NM_000313,protein S (alpha),676aa) | g.3:93611837A>C,c.1095T>G,p.N365K |
| PROS1(NM_000313,protein S (alpha),676aa) | g.3:93605274G>T,c.1229C>A,p.P410H |
| PROS1(NM_000313,protein S (alpha),676aa) | g.3:93603730C>T,c.1334G>A,p.R445H |
| PROS1(NM_000313,protein S (alpha),676aa) | g.3:93598150A>G,c.1501T>C,p.S501P |
| PROS1(NM_000313,protein S (alpha),676aa) | g.3:93595998C>T,c.1682G>A,p.R561Q |