| Genename | Variants |
|---|---|
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48158191T>C,c.1520A>G,p.K507R |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48155703C>T,c.1636G>A,p.V546I |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48149394C>T,c.1921G>A,p.V641I |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48145742T>A,c.2069A>T,p.E690V |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48139232G>A,c.2491C>T,p.Q831X |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48139174A>G,c.2549T>C,p.V850A |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48139124C>T,c.2599G>A,p.V867I |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48138272T>A,c.2681A>T,p.K894M |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48138201C>T,c.2752G>A,p.E918K |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48134856T>A,c.2965A>T,p.T989S |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48134814C>T,c.3007G>A,p.A1003T |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48134784A>G,c.3037T>C,p.Y1013H |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48130781C>T,c.3071G>A,p.W1024X |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48130775G>A,c.3077C>T,p.A1026V |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48122582G>A,c.3349C>T,p.R1117C |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48121987G>A,c.3485C>T,p.S1162L |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48121912A>G,c.3560T>C,p.I1187T |
| ABCC12(NM_033226,ATP-binding cassette, sub-family C (CFTR/MRP), member 12,1359aa) | g.16:48117659A>T,c.4047T>A,p.F1349L |
| ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) | g.16:48265777C>T,c.56G>A,p.R19H |
| ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) | g.16:48261877T>C,c.237-2A>G,p.79Acceptor |
| ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) | g.16:48258340C>A,c.396G>T,p.R132S |
| ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) | g.16:48258198C>T,c.538G>A,p.G180R |
| ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) | g.16:48250140G>A,c.836C>T,p.P279L |
| ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) | g.16:48250026G>T,c.950C>A,p.A317E |
| ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) | g.16:48247410C>A,c.1300G>T,p.V434L |
| ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) | g.16:48245020A>G,c.1447T>C,p.W483R |
| ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) | g.16:48244996C>T,c.1471G>A,p.V491I |
| ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) | g.16:48244924C>T,c.1543G>A,p.G515R |