| Genename | Variants |
|---|---|
| ALS2CL(NM_001190707,ALS2 C-terminal like,953aa) | g.3:46713039C>T,c.2720G>A,p.R907H |
| ALS2CL(NM_001190707,ALS2 C-terminal like,953aa) | g.3:46712514T>C,c.2822A>G,p.H941R |
| ALS2CL(NM_001190707,ALS2 C-terminal like,953aa) | g.3:46712490G>A,c.2846C>T,p.S949F |
| ALPP(NM_001632,alkaline phosphatase, placental,535aa) | g.2:233246489C>A,c.1592C>A,p.T531K |
| ALPP(NM_001632,alkaline phosphatase, placental,535aa) | g.2:233246443C>A,c.1546C>A,p.P516T |
| ALPP(NM_001632,alkaline phosphatase, placental,535aa) | g.2:233246432G>C,c.1535G>C,p.R512P |
| ALPP(NM_001632,alkaline phosphatase, placental,535aa) | g.2:233246399C>G,c.1502C>G,p.P501R |
| ALPP(NM_001632,alkaline phosphatase, placental,535aa) | g.2:233246249A>G,c.1352A>G,p.E451G |
| ALPP(NM_001632,alkaline phosphatase, placental,535aa) | g.2:233246221C>T,c.1324C>T,p.R442W |
| ALPP(NM_001632,alkaline phosphatase, placental,535aa) | g.2:233246071G>A,c.1303G>A,p.E435K |
| ALPP(NM_001632,alkaline phosphatase, placental,535aa) | g.2:233246002G>A,c.1234G>A,p.V412I |
| ALPP(NM_001632,alkaline phosphatase, placental,535aa) | g.2:233245982G>A,c.1214G>A,p.R405Q |
| ALPP(NM_001632,alkaline phosphatase, placental,535aa) | g.2:233245390C>T,c.923C>T,p.P308L |
| ALPP(NM_001632,alkaline phosphatase, placental,535aa) | g.2:233245141T>C,c.804T>C,p.Y268Y |
| ALPP(NM_001632,alkaline phosphatase, placental,535aa) | g.2:233245026G>A,c.788G>A,p.R263H |
| ALPP(NM_001632,alkaline phosphatase, placental,535aa) | g.2:233244934G>A,c.696G>A,p.M232I |
| ALPP(NM_001632,alkaline phosphatase, placental,535aa) | g.2:233244930G>C,c.692G>C,p.R231P |
| ALPP(NM_001632,alkaline phosphatase, placental,535aa) | g.2:233244591G>A,c.602G>A,p.R201H |
| ALPP(NM_001632,alkaline phosphatase, placental,535aa) | g.2:233244530A>G,c.541A>G,p.T181A |
| ALPP(NM_001632,alkaline phosphatase, placental,535aa) | g.2:233244328C>T,c.415C>T,p.R139C |
| ALPP(NM_001632,alkaline phosphatase, placental,535aa) | g.2:233244230A>G,c.317A>G,p.N106S |
| ALPP(NM_001632,alkaline phosphatase, placental,535aa) | g.2:233244223A>C,c.310A>C,p.T104P |
| ALPP(NM_001632,alkaline phosphatase, placental,535aa) | g.2:233243981A>T,c.265A>T,p.I89L |
| ALPP(NM_001632,alkaline phosphatase, placental,535aa) | g.2:233243713G>C,c.109G>C,p.E37Q |
| ALPP(NM_001632,alkaline phosphatase, placental,535aa) | g.2:233243586C>T,c.74C>T,p.P25L |
| ALPP(NM_001632,alkaline phosphatase, placental,535aa) | g.2:233243529_233243531del,c.17_19del,p.6_7del |
| ALPPL2(NM_031313,alkaline phosphatase, placental-like 2,532aa) | g.2:233274509C>G,c.1526C>G,p.P509R |
| ALPPL2(NM_031313,alkaline phosphatase, placental-like 2,532aa) | g.2:233274482G>A,c.1499G>A,p.G500D |