| 基因名 | 突变 |
|---|---|
| SLC45A4(NM_001080431,solute carrier family 45, member 4,798aa) | g.8:142228658T>C,c.928A>G,p.T310A |
| SLC45A4(NM_001080431,solute carrier family 45, member 4,798aa) | g.8:142228531G>A,c.1055C>T,p.T352M |
| SLC45A4(NM_001080431,solute carrier family 45, member 4,798aa) | g.8:142228516G>A,c.1070C>T,p.T357M |
| SLC45A4(NM_001080431,solute carrier family 45, member 4,798aa) | g.8:142227269G>A,c.1496C>T,p.A499V |
| SLC45A4(NM_001080431,solute carrier family 45, member 4,798aa) | g.8:142225961T>C,c.1685A>G,p.N562S |
| SLC45A4(NM_001080431,solute carrier family 45, member 4,798aa) | g.8:142222631A>C,c.1813T>G,p.S605A |
| SLC45A4(NM_001080431,solute carrier family 45, member 4,798aa) | g.8:142222516A>G,c.1928T>C,p.V643A |
| SLC45A4(NM_001080431,solute carrier family 45, member 4,798aa) | g.8:142222445T>C,c.1999A>G,p.N667D |
| SLC45A4(NM_001080431,solute carrier family 45, member 4,798aa) | g.8:142222324A>G,c.2120T>C,p.L707P |
| SLC45A4(NM_001080431,solute carrier family 45, member 4,798aa) | g.8:142221794C>T,c.2144G>A,p.R715H |
| SLC45A4(NM_001080431,solute carrier family 45, member 4,798aa) | g.8:142221794C>A,c.2144G>T,p.R715L |
| SLC45A4(NM_001080431,solute carrier family 45, member 4,798aa) | g.8:142221746C>T,c.2192G>A,p.R731H |
| SLC45A3(NM_033102,solute carrier family 45, member 3,553aa) | g.1:205633744C>T,c.41G>A,p.R14Q |
| SLC45A3(NM_033102,solute carrier family 45, member 3,553aa) | g.1:205632218_205632253del,c.666_701del,p.222_234del |
| SLC45A3(NM_033102,solute carrier family 45, member 3,553aa) | g.1:205632185C>T,c.734G>A,p.R245Q |
| SLC45A3(NM_033102,solute carrier family 45, member 3,553aa) | g.1:205631252C>T,c.961G>A,p.V321I |
| SLC45A3(NM_033102,solute carrier family 45, member 3,553aa) | g.1:205631114C>T,c.1099G>A,p.G367S |
| SLC45A3(NM_033102,solute carrier family 45, member 3,553aa) | g.1:205631084C>T,c.1129G>A,p.V377M |
| SLC45A3(NM_033102,solute carrier family 45, member 3,553aa) | g.1:205628616C>T,c.1408G>A,p.V470I |
| SLC45A3(NM_033102,solute carrier family 45, member 3,553aa) | g.1:205628573G>A,c.1451C>T,p.P484L |
| SLC45A3(NM_033102,solute carrier family 45, member 3,553aa) | g.1:205628568G>A,c.1456C>T,p.R486W |
| SLC45A3(NM_033102,solute carrier family 45, member 3,553aa) | g.1:205628442C>T,c.1582G>A,p.A528T |
| SLC45A2(NM_001012509,solute carrier family 45, member 2,460aa) | g.5:33984409G>C,c.280C>G,p.H94D |
| SLC45A2(NM_001012509,solute carrier family 45, member 2,460aa) | g.5:33982479T>G,c.424A>C,p.I142L |
| SLC45A2(NM_001012509,solute carrier family 45, member 2,460aa) | g.5:33963881T>C,c.803A>G,p.Y268C |
| SLC45A2(NM_001012509,solute carrier family 45, member 2,460aa) | g.5:33963870C>T,c.814G>A,p.E272K |
| SLC45A2(NM_001012509,solute carrier family 45, member 2,460aa) | g.5:33954605C>A,c.893G>T,p.R298L |
| SLC45A2(NM_001012509,solute carrier family 45, member 2,460aa) | g.5:33954546G>A,c.952C>T,p.R318C |