| 基因名 | 突变 |
|---|---|
| ABCC9(NM_020297,ATP-binding cassette, sub-family C (CFTR/MRP), member 9,1549aa) | g.12:22028630C>T,c.2050G>A,p.G684S |
| ABCC9(NM_020297,ATP-binding cassette, sub-family C (CFTR/MRP), member 9,1549aa) | g.12:22017410C>T,c.2200G>A,p.V734I |
| ABCC9(NM_020297,ATP-binding cassette, sub-family C (CFTR/MRP), member 9,1549aa) | g.12:22017388A>G,c.2222T>C,p.F741S |
| ABCC9(NM_020297,ATP-binding cassette, sub-family C (CFTR/MRP), member 9,1549aa) | g.12:22015989C>T,c.2238-1G>A,p.746Acceptor |
| ABCC9(NM_020297,ATP-binding cassette, sub-family C (CFTR/MRP), member 9,1549aa) | g.12:21998706T>A,c.2927A>T,p.K976I |
| ABCC9(NM_020297,ATP-binding cassette, sub-family C (CFTR/MRP), member 9,1549aa) | g.12:21995312C>T,c.3409G>A,p.V1137I |
| ABCC9(NM_020297,ATP-binding cassette, sub-family C (CFTR/MRP), member 9,1549aa) | g.12:21981893G>A,c.3668C>T,p.T1223M |
| ABCC9(NM_020297,ATP-binding cassette, sub-family C (CFTR/MRP), member 9,1549aa) | g.12:21971087A>G,c.3768T>C,p.L1256L |
| ABCC8(NM_000352,ATP-binding cassette, sub-family C (CFTR/MRP), member 8,1581aa) | g.11:17496516A>G,c.207T>C,p.P69P |
| ABCC8(NM_000352,ATP-binding cassette, sub-family C (CFTR/MRP), member 8,1581aa) | g.11:17483305C>T,c.647G>A,p.R216H |
| ABCC8(NM_000352,ATP-binding cassette, sub-family C (CFTR/MRP), member 8,1581aa) | g.11:17482222C>T,c.824G>A,p.R275Q |
| ABCC8(NM_000352,ATP-binding cassette, sub-family C (CFTR/MRP), member 8,1581aa) | g.11:17482175G>A,c.871C>T,p.L291F |
| ABCC8(NM_000352,ATP-binding cassette, sub-family C (CFTR/MRP), member 8,1581aa) | g.11:17452500C>T,c.1678G>A,p.V560M |
| ABCC8(NM_000352,ATP-binding cassette, sub-family C (CFTR/MRP), member 8,1581aa) | g.11:17449929C>T,c.1947G>A,p.K649K |
| ABCC8(NM_000352,ATP-binding cassette, sub-family C (CFTR/MRP), member 8,1581aa) | g.11:17449919G>A,c.1957C>T,p.R653W |
| ABCC8(NM_000352,ATP-binding cassette, sub-family C (CFTR/MRP), member 8,1581aa) | g.11:17449470G>A,c.2060C>T,p.T687M |
| ABCC8(NM_000352,ATP-binding cassette, sub-family C (CFTR/MRP), member 8,1581aa) | g.11:17448642C>T,c.2176G>A,p.A726T |
| ABCC8(NM_000352,ATP-binding cassette, sub-family C (CFTR/MRP), member 8,1581aa) | g.11:17436865G>A,c.2277C>T,p.T759T |
| ABCC8(NM_000352,ATP-binding cassette, sub-family C (CFTR/MRP), member 8,1581aa) | g.11:17424217C>T,c.3641G>A,p.R1214Q |
| ABCC8(NM_000352,ATP-binding cassette, sub-family C (CFTR/MRP), member 8,1581aa) | g.11:17419279C>T,c.3819G>A,p.R1273R |
| ABCC8(NM_000352,ATP-binding cassette, sub-family C (CFTR/MRP), member 8,1581aa) | g.11:17418752C>T,c.3976G>A,p.E1326K |
| ABCC8(NM_000352,ATP-binding cassette, sub-family C (CFTR/MRP), member 8,1581aa) | g.11:17418574C>G,c.4008G>C,p.K1336N |
| ABCC8(NM_000352,ATP-binding cassette, sub-family C (CFTR/MRP), member 8,1581aa) | g.11:17418477C>A,c.4105G>T,p.A1369S |
| ABCC8(NM_000352,ATP-binding cassette, sub-family C (CFTR/MRP), member 8,1581aa) | g.11:17414581C>T,c.4703G>A,p.R1568Q |
| ABCC8(NM_000352,ATP-binding cassette, sub-family C (CFTR/MRP), member 8,1581aa) | g.11:17414570C>T,c.4714G>A,p.V1572I |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16315546C>T,c.179G>A,p.R60Q |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16308285G>A,c.496C>T,p.R166C |
| ABCC6(NM_001171,ATP-binding cassette, sub-family C (CFTR/MRP), member 6,1503aa) | g.16:16302586T>C,c.793A>G,p.R265G |