| 基因名 | 突变 |
|---|---|
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48755105C>T,c.3379C>T,p.R1127C |
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48753035C>T,c.2758C>T,p.P920S |
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48752837G>A,c.2714G>A,p.R905K |
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48752835G>A,c.2712G>A,p.M904I |
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48750851G>A,c.2431G>A,p.G811S |
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48750846C>T,c.2426C>T,p.T809M |
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48742513G>T,c.1339-1G>T,p.447Acceptor |
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48741440C>A,c.1306C>A,p.Q436K |
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48741417A>G,c.1283A>G,p.N428S |
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48741080C>T,c.1037C>T,p.S346F |
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48738348C>T,c.871C>T,p.R291W |
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48736618G>A,c.695G>A,p.R232Q |
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48736617C>T,c.694C>T,p.R232W |
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48733349C>T,c.202C>T,p.H68Y |
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48712336G>C,c.39G>C,p.K13N |
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48712329G>A,c.32G>A,p.G11D |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101611296G>A,c.4546G>A,p.G1516S |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101611294G>A,c.4544G>A,p.C1515Y |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101610510A>G,c.4465A>G,p.I1489V |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101610475C>T,c.4430C>T,p.T1477M |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101610393G>T,c.4348G>T,p.A1450S |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101604207C>T,c.3972C>T,p.I1324I |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101604163C>T,c.3928C>T,p.R1310X |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101604107C>T,c.3872C>T,p.P1291L |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101595996T>A,c.3563T>A,p.V1188E |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101595975G>T,c.3542G>T,p.R1181L |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101595933T>C,c.3500T>C,p.V1167A |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101595869C>T,c.3436C>T,p.R1146C |