| 基因名 | 突变 |
|---|---|
| ABCC4(NM_005845,ATP-binding cassette, sub-family C (CFTR/MRP), member 4,1325aa) | g.13:95859035C>A,c.912G>T,p.K304N |
| ABCC4(NM_005845,ATP-binding cassette, sub-family C (CFTR/MRP), member 4,1325aa) | g.13:95858898C>T,c.1049G>A,p.R350H |
| ABCC4(NM_005845,ATP-binding cassette, sub-family C (CFTR/MRP), member 4,1325aa) | g.13:95858880G>A,c.1067C>T,p.T356M |
| ABCC4(NM_005845,ATP-binding cassette, sub-family C (CFTR/MRP), member 4,1325aa) | g.13:95839089C>T,c.1411G>A,p.V471M |
| ABCC4(NM_005845,ATP-binding cassette, sub-family C (CFTR/MRP), member 4,1325aa) | g.13:95839040C>T,c.1460G>A,p.G487E |
| ABCC4(NM_005845,ATP-binding cassette, sub-family C (CFTR/MRP), member 4,1325aa) | g.13:95830300G>C,c.1591C>G,p.R531G |
| ABCC4(NM_005845,ATP-binding cassette, sub-family C (CFTR/MRP), member 4,1325aa) | g.13:95830030G>A,c.1658C>T,p.A553V |
| ABCC4(NM_005845,ATP-binding cassette, sub-family C (CFTR/MRP), member 4,1325aa) | g.13:95818560G>T,c.1886C>A,p.S629Y |
| ABCC4(NM_005845,ATP-binding cassette, sub-family C (CFTR/MRP), member 4,1325aa) | g.13:95818524G>A,c.1922C>T,p.P641L |
| ABCC4(NM_005845,ATP-binding cassette, sub-family C (CFTR/MRP), member 4,1325aa) | g.13:95815415C>T,c.2269G>A,p.E757K |
| ABCC4(NM_005845,ATP-binding cassette, sub-family C (CFTR/MRP), member 4,1325aa) | g.13:95735520C>A,c.2560G>T,p.V854F |
| ABCC4(NM_005845,ATP-binding cassette, sub-family C (CFTR/MRP), member 4,1325aa) | g.13:95735502C>T,c.2578G>A,p.V860M |
| ABCC4(NM_005845,ATP-binding cassette, sub-family C (CFTR/MRP), member 4,1325aa) | g.13:95735484T>C,c.2596A>G,p.I866V |
| ABCC4(NM_005845,ATP-binding cassette, sub-family C (CFTR/MRP), member 4,1325aa) | g.13:95735444C>T,c.2636G>A,p.R879Q |
| ABCC4(NM_005845,ATP-binding cassette, sub-family C (CFTR/MRP), member 4,1325aa) | g.13:95725484G>A,c.2992C>T,p.R998X |
| ABCC4(NM_005845,ATP-binding cassette, sub-family C (CFTR/MRP), member 4,1325aa) | g.13:95724038G>A,c.3088C>T,p.R1030C |
| ABCC4(NM_005845,ATP-binding cassette, sub-family C (CFTR/MRP), member 4,1325aa) | g.13:95724031G>C,c.3095C>G,p.P1032R |
| ABCC4(NM_005845,ATP-binding cassette, sub-family C (CFTR/MRP), member 4,1325aa) | g.13:95705380G>A,c.3425C>T,p.T1142M |
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48765024A>G,c.4408A>G,p.T1470A |
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48762173C>T,c.4217C>T,p.T1406M |
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48762097C>T,c.4141C>T,p.R1381C |
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48761443G>A,c.4088G>A,p.R1363H |
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48761397C>T,c.4042C>T,p.R1348C |
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48761385A>G,c.4030A>G,p.K1344E |
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48761053G>A,c.3890G>A,p.R1297H |
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48761022G>T,c.3859G>T,p.G1287W |
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48760980G>A,c.3817G>A,p.V1273M |
| ABCC3(NM_003786,ATP-binding cassette, sub-family C (CFTR/MRP), member 3,1527aa) | g.17:48755518G>A,c.3643G>A,p.V1215I |