| 基因名 | 突变 |
|---|---|
| ABCC1(NM_004996,ATP-binding cassette, sub-family C (CFTR/MRP), member 1,1531aa) | g.16:16215877G>A,c.3436G>A,p.V1146I |
| ABCC1(NM_004996,ATP-binding cassette, sub-family C (CFTR/MRP), member 1,1531aa) | g.16:16208928G>A,c.3385G>A,p.V1129I |
| ABCC1(NM_004996,ATP-binding cassette, sub-family C (CFTR/MRP), member 1,1531aa) | g.16:16208889G>A,c.3346G>A,p.A1116T |
| ABCC1(NM_004996,ATP-binding cassette, sub-family C (CFTR/MRP), member 1,1531aa) | g.16:16208851G>A,c.3308G>A,p.G1103D |
| ABCC1(NM_004996,ATP-binding cassette, sub-family C (CFTR/MRP), member 1,1531aa) | g.16:16208739C>T,c.3196C>T,p.R1066W |
| ABCC1(NM_004996,ATP-binding cassette, sub-family C (CFTR/MRP), member 1,1531aa) | g.16:16208683G>C,c.3140G>C,p.C1047S |
| ABCC1(NM_004996,ATP-binding cassette, sub-family C (CFTR/MRP), member 1,1531aa) | g.16:16205379G>A,c.3019G>A,p.G1007R |
| ABCC1(NM_004996,ATP-binding cassette, sub-family C (CFTR/MRP), member 1,1531aa) | g.16:16184331G>A,c.2530G>A,p.G844S |
| ABCC1(NM_004996,ATP-binding cassette, sub-family C (CFTR/MRP), member 1,1531aa) | g.16:16177275G>A,c.2168G>A,p.R723Q |
| ABCC1(NM_004996,ATP-binding cassette, sub-family C (CFTR/MRP), member 1,1531aa) | g.16:16173232G>T,c.2012G>T,p.G671V |
| ABCC1(NM_004996,ATP-binding cassette, sub-family C (CFTR/MRP), member 1,1531aa) | g.16:16165572G>A,c.1898G>A,p.R633Q |
| ABCC1(NM_004996,ATP-binding cassette, sub-family C (CFTR/MRP), member 1,1531aa) | g.16:16142079G>T,c.1299G>T,p.R433S |
| ABCC1(NM_004996,ATP-binding cassette, sub-family C (CFTR/MRP), member 1,1531aa) | g.16:16142015A>G,c.1235A>G,p.N412S |
| ABCC1(NM_004996,ATP-binding cassette, sub-family C (CFTR/MRP), member 1,1531aa) | g.16:16138375C>T,c.878C>T,p.A293V |
| ABCC1(NM_004996,ATP-binding cassette, sub-family C (CFTR/MRP), member 1,1531aa) | g.16:16130377G>T,c.726G>T,p.W242C |
| ABCC1(NM_004996,ATP-binding cassette, sub-family C (CFTR/MRP), member 1,1531aa) | g.16:16110422G>A,c.559G>A,p.V187I |
| ABCC1(NM_004996,ATP-binding cassette, sub-family C (CFTR/MRP), member 1,1531aa) | g.16:16101842C>T,c.218C>T,p.T73I |
| ABCC1(NM_004996,ATP-binding cassette, sub-family C (CFTR/MRP), member 1,1531aa) | g.16:16101826A>G,c.202A>G,p.T68A |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48180311T>G,c.25A>C,p.I9L |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48180284G>A,c.52C>T,p.R18W |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48177911G>A,c.185C>T,p.P62L |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48177876C>T,c.220G>A,p.V74I |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48175259C>T,c.281G>A,p.R94Q |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48175235G>T,c.305C>A,p.A102E |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48175200C>T,c.340G>A,p.V114M |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48174765C>A,c.490G>T,p.G164X |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48172183A>T,c.935T>A,p.I312N |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48167671A>G,c.1055T>C,p.I352T |