| 基因名 | 突变 |
|---|---|
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16297436C>T,c.829G>A,p.G277S |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16297310T>C,c.955A>G,p.I319V |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16297305del,c.960del,p.320fs |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16295974C>T,c.1060G>A,p.V354M |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16295902G>A,c.1132C>T,p.Q378X |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16295863T>C,c.1171A>G,p.R391G |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16292021C>T,c.1195G>A,p.G399S |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16291973C>T,c.1243G>A,p.V415M |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16291933T>C,c.1283A>G,p.N428S |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16284086C>T,c.1570G>A,p.A524T |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16282828C>T,c.1639G>A,p.A547T |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16281007A>G,c.1841T>C,p.V614A |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16278863G>T,c.1896C>A,p.H632Q |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16276776G>A,c.1955C>T,p.T652M |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16276741G>A,c.1990C>T,p.P664S |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16276430C>T,c.2086G>A,p.V696M |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16276391C>T,c.2125G>A,p.E709K |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16276345C>T,c.2171G>A,p.R724K |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16276292T>C,c.2224A>G,p.I742V |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16272728G>A,c.2342C>T,p.A781V |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16271480G>A,c.2419C>T,p.R807W |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16271422A>G,c.2477T>C,p.L826P |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16271357T>C,c.2542A>G,p.M848V |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16271357del,c.2542del,p.848fs |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16269784C>T,c.2650G>A,p.E884K |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16269772C>T,c.2662G>A,p.E888K |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16263662G>T,c.2836C>A,p.L946I |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16263649G>A,c.2849C>T,p.A950V |