| 基因名 | 突变 |
|---|---|
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16259596G>A,c.3190C>T,p.R1064W |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16259497G>T,c.3289C>A,p.L1097I |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16256944G>A,c.3412C>T,p.R1138W |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16256866G>A,c.3490C>T,p.R1164X |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16255336T>C,c.3592A>G,p.S1198G |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16253371G>A,c.3703C>T,p.R1235W |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16251663G>T,c.3739C>A,p.P1247T |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16251627_16251628insG,c.3774_3775insC,p.1258fs |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16251600G>A,c.3802C>T,p.R1268W |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16251599C>T,c.3803G>A,p.R1268Q |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16251531C>T,c.3871G>A,p.A1291T |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16248867C>T,c.3904G>A,p.G1302R |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16248831G>A,c.3940C>T,p.R1314W |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16248755C>T,c.4016G>A,p.R1339H |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16248623C>T,c.4070G>A,p.R1357Q |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16248588C>T,c.4105G>A,p.E1369K |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16244586G>A,c.4252C>T,p.R1418W |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16244585C>T,c.4253G>A,p.R1418Q |
| ABCC5(NM_005688,ATP-binding cassette, sub-family C (CFTR/MRP), member 5,1437aa) | g.3:183706444C>T,c.359G>A,p.R120H |
| ABCC5(NM_005688,ATP-binding cassette, sub-family C (CFTR/MRP), member 5,1437aa) | g.3:183706364T>C,c.439A>G,p.R147G |
| ABCC5(NM_005688,ATP-binding cassette, sub-family C (CFTR/MRP), member 5,1437aa) | g.3:183699595T>C,c.1067A>G,p.Q356R |
| ABCC5(NM_005688,ATP-binding cassette, sub-family C (CFTR/MRP), member 5,1437aa) | g.3:183696421C>T,c.1166G>A,p.R389H |
| ABCC5(NM_005688,ATP-binding cassette, sub-family C (CFTR/MRP), member 5,1437aa) | g.3:183689610G>T,c.1502C>A,p.S501Y |
| ABCC5(NM_005688,ATP-binding cassette, sub-family C (CFTR/MRP), member 5,1437aa) | g.3:183689395G>A,c.1717C>T,p.R573C |
| ABCC5(NM_005688,ATP-binding cassette, sub-family C (CFTR/MRP), member 5,1437aa) | g.3:183667565T>C,c.3203A>G,p.N1068S |
| ABCC4(NM_005845,ATP-binding cassette, sub-family C (CFTR/MRP), member 4,1325aa) | g.13:95953517G>T,c.52C>A,p.L18I |
| ABCC4(NM_005845,ATP-binding cassette, sub-family C (CFTR/MRP), member 4,1325aa) | g.13:95899303G>C,c.232C>G,p.P78A |
| ABCC4(NM_005845,ATP-binding cassette, sub-family C (CFTR/MRP), member 4,1325aa) | g.13:95863008C>A,c.559G>T,p.G187W |