| 基因名 | 突变 |
|---|---|
| MEP1B(NM_005925,meprin A, beta,701aa) | g.18:29795101T>C,c.1636T>C,p.S546P |
| MEP1B(NM_005925,meprin A, beta,701aa) | g.18:29795080G>A,c.1615G>A,p.V539M |
| MEP1B(NM_005925,meprin A, beta,701aa) | g.18:29793475G>A,c.1532G>A,p.R511H |
| MEP1B(NM_005925,meprin A, beta,701aa) | g.18:29793468C>T,c.1525C>T,p.R509X |
| MEP1B(NM_005925,meprin A, beta,701aa) | g.18:29793346C>T,c.1403C>T,p.A468V |
| MEP1B(NM_005925,meprin A, beta,701aa) | g.18:29793211C>T,c.1268C>T,p.S423L |
| MEP1B(NM_005925,meprin A, beta,701aa) | g.18:29793156C>T,c.1213C>T,p.R405C |
| MEP1B(NM_005925,meprin A, beta,701aa) | g.18:29790536C>T,c.992C>T,p.T331M |
| MEP1B(NM_005925,meprin A, beta,701aa) | g.18:29790520G>A,c.976G>A,p.V326M |
| MEP1B(NM_005925,meprin A, beta,701aa) | g.18:29784212C>T,c.436C>T,p.R146X |
| MEP1B(NM_005925,meprin A, beta,701aa) | g.18:29784171G>A,c.395G>A,p.R132Q |
| MEP1B(NM_005925,meprin A, beta,701aa) | g.18:29782953A>G,c.348A>G,p.I116M |
| MEP1B(NM_005925,meprin A, beta,701aa) | g.18:29775395G>C,c.197G>C,p.G66A |
| MEP1A(NM_005588,meprin A, alpha (PABA peptide hydrolase),746aa) | g.6:46806809C>T,c.2177C>T,p.T726M |
| MEP1A(NM_005588,meprin A, alpha (PABA peptide hydrolase),746aa) | g.6:46806766G>A,c.2134G>A,p.V712M |
| MEP1A(NM_005588,meprin A, alpha (PABA peptide hydrolase),746aa) | g.6:46803163C>T,c.1961C>T,p.S654L |
| MEP1A(NM_005588,meprin A, alpha (PABA peptide hydrolase),746aa) | g.6:46803102A>G,c.1900A>G,p.M634V |
| MEP1A(NM_005588,meprin A, alpha (PABA peptide hydrolase),746aa) | g.6:46803018A>T,c.1816A>T,p.T606S |
| MEP1A(NM_005588,meprin A, alpha (PABA peptide hydrolase),746aa) | g.6:46801219G>A,c.1553G>A,p.R518Q |
| MEP1A(NM_005588,meprin A, alpha (PABA peptide hydrolase),746aa) | g.6:46801214T>A,c.1548T>A,p.D516E |
| MEP1A(NM_005588,meprin A, alpha (PABA peptide hydrolase),746aa) | g.6:46801114G>C,c.1448G>C,p.R483T |
| MEP1A(NM_005588,meprin A, alpha (PABA peptide hydrolase),746aa) | g.6:46801092A>G,c.1426A>G,p.R476G |
| MEP1A(NM_005588,meprin A, alpha (PABA peptide hydrolase),746aa) | g.6:46801071G>T,c.1405G>T,p.V469L |
| MEP1A(NM_005588,meprin A, alpha (PABA peptide hydrolase),746aa) | g.6:46800921A>G,c.1255A>G,p.I419V |
| MEP1A(NM_005588,meprin A, alpha (PABA peptide hydrolase),746aa) | g.6:46800853A>G,c.1187A>G,p.K396R |
| MEP1A(NM_005588,meprin A, alpha (PABA peptide hydrolase),746aa) | g.6:46794201G>C,c.889G>C,p.A297P |
| MEP1A(NM_005588,meprin A, alpha (PABA peptide hydrolase),746aa) | g.6:46793192C>T,c.740C>T,p.A247V |
| MEP1A(NM_005588,meprin A, alpha (PABA peptide hydrolase),746aa) | g.6:46766883C>A,c.227C>A,p.T76K |