| 基因名 | 突变 |
|---|---|
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101594176C>T,c.3298C>T,p.R1100C |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101591866G>A,c.3236G>A,p.R1079Q |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101591737T>C,c.3107T>C,p.I1036T |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101591541G>C,c.3057G>C,p.Q1019H |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101590526G>A,c.2801G>A,p.R934Q |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101590486G>A,c.2761G>A,p.G921S |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101590484A>G,c.2759A>G,p.N920S |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101590129G>A,c.2686G>A,p.E896K |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101578952T>G,c.2546T>G,p.L849R |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101578641C>T,c.2366C>T,p.S789F |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101578577C>T,c.2302C>T,p.R768W |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101577123A>G,c.2153A>G,p.N718S |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101572816T>C,c.2009T>C,p.I670T |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101571356G>A,c.1964G>A,p.R655Q |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101567212G>T,c.1602G>T,p.K534N |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101565157A>G,c.1483A>G,p.K495E |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101564023C>T,c.1457C>T,p.T486I |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101563971G>T,c.1405G>T,p.V469L |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101563815G>A,c.1249G>A,p.V417I |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101557063G>A,c.842G>A,p.S281N |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101556957A>G,c.736A>G,p.M246V |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101553428C>T,c.454C>T,p.R152W |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101553312T>C,c.338T>C,p.L113P |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101544447A>T,c.116A>T,p.Y39F |
| ABCC2(NM_000392,ATP-binding cassette, sub-family C (CFTR/MRP), member 2,1545aa) | g.10:101544428G>T,c.97G>T,p.V33L |
| ABCC1(NM_004996,ATP-binding cassette, sub-family C (CFTR/MRP), member 1,1531aa) | g.16:16228264C>T,c.4024C>T,p.R1342W |
| ABCC1(NM_004996,ATP-binding cassette, sub-family C (CFTR/MRP), member 1,1531aa) | g.16:16228223G>A,c.3983G>A,p.R1328Q |
| ABCC1(NM_004996,ATP-binding cassette, sub-family C (CFTR/MRP), member 1,1531aa) | g.16:16225727C>T,c.3901C>T,p.R1301C |