| 基因名 | 突变 |
|---|---|
| ALPL(NM_000478,alkaline phosphatase, liver/bone/kidney,524aa) | g.1:21887691G>A,c.283G>A,p.V95M |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85411581C>T,c.5618C>T,p.A1873V |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85406846G>A,c.5080G>A,p.A1694T |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85406820A>G,c.5054A>G,p.K1685R |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85406058C>T,c.4928C>T,p.T1643M |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85405995T>C,c.4865T>C,p.L1622P |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85405920C>G,c.4790C>G,p.S1597C |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85403105C>A,c.4670C>A,p.A1557D |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85403065G>A,c.4630G>A,p.G1544S |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85402488C>T,c.4438C>T,p.R1480W |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85401597C>T,c.4234C>T,p.R1412W |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85401370C>T,c.4007C>T,p.A1336V |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85401259C>T,c.3896C>T,p.P1299L |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85401106G>A,c.3743G>A,p.R1248H |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85401081C>T,c.3718C>T,p.R1240C |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85401006C>T,c.3643C>T,p.R1215C |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85400611C>T,c.3248C>T,p.A1083V |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85400566C>T,c.3203C>T,p.T1068M |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85400512C>T,c.3149C>T,p.P1050L |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85400505G>A,c.3142G>A,p.G1048R |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85400499C>T,c.3136C>T,p.P1046S |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85400150G>C,c.2787G>C,p.E929D |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85399660C>T,c.2297C>T,p.S766L |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85399650C>T,c.2287C>T,p.P763S |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85399645C>T,c.2282C>T,p.T761M |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85383913A>T,c.2009A>T,p.H670L |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85383709A>G,c.1805A>G,p.Q602R |
| ALPK3(NM_020778,alpha-kinase 3,1907aa) | g.15:85383640G>A,c.1736G>A,p.G579E |