| 基因名 | 突变 |
|---|---|
| SLC12A1(NM_001184832,solute carrier family 12 (sodium/potassium/chloride transporter), member 1,1099aa) | g.15:48561901A>G,c.2342A>G,p.Y781C |
| SLC12A1(NM_001184832,solute carrier family 12 (sodium/potassium/chloride transporter), member 1,1099aa) | g.15:48559885G>A,c.2282G>A,p.R761Q |
| SLC12A1(NM_001184832,solute carrier family 12 (sodium/potassium/chloride transporter), member 1,1099aa) | g.15:48559858C>T,c.2255C>T,p.A752V |
| SLC12A1(NM_001184832,solute carrier family 12 (sodium/potassium/chloride transporter), member 1,1099aa) | g.15:48559813C>T,c.2210C>T,p.A737V |
| SLC12A1(NM_001184832,solute carrier family 12 (sodium/potassium/chloride transporter), member 1,1099aa) | g.15:48537061G>A,c.1412G>A,p.R471Q |
| SLC12A1(NM_001184832,solute carrier family 12 (sodium/potassium/chloride transporter), member 1,1099aa) | g.15:48519315C>T,c.668C>T,p.T223M |
| SLC12A1(NM_001184832,solute carrier family 12 (sodium/potassium/chloride transporter), member 1,1099aa) | g.15:48512873G>A,c.463G>A,p.G155S |
| SLC12A1(NM_001184832,solute carrier family 12 (sodium/potassium/chloride transporter), member 1,1099aa) | g.15:48512855G>A,c.445G>A,p.A149T |
| SLC12A1(NM_001184832,solute carrier family 12 (sodium/potassium/chloride transporter), member 1,1099aa) | g.15:48500263G>A,c.347G>A,p.R116H |
| SLC12A1(NM_001184832,solute carrier family 12 (sodium/potassium/chloride transporter), member 1,1099aa) | g.15:48500178G>A,c.262G>A,p.A88T |
| SLC11A2(NM_001174129,solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2,561aa) | g.12:51399206C>T,c.197G>A,p.S66N |
| SLC11A2(NM_001174129,solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2,561aa) | g.12:51385452G>A,c.1351C>T,p.P451S |
| SLC11A2(NM_001174129,solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2,561aa) | g.12:51384655G>A,c.1498C>T,p.R500W |
| SLC11A1(NM_000578,solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1,550aa) | g.2:219259732G>A,c.1627G>A,p.D543N |
| SLC11A1(NM_000578,solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1,550aa) | g.2:219259504A>G,c.1538A>G,p.Y513C |
| SLC11A1(NM_000578,solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1,550aa) | g.2:219259458G>A,c.1492G>A,p.G498S |
| SLC11A1(NM_000578,solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1,550aa) | g.2:219259416G>C,c.1450G>C,p.V484L |
| SLC11A1(NM_000578,solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1,550aa) | g.2:219258856T>C,c.1328T>C,p.V443A |
| SLC11A1(NM_000578,solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1,550aa) | g.2:219258855G>A,c.1327G>A,p.V443M |
| SLC11A1(NM_000578,solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1,550aa) | g.2:219257795G>A,c.1256G>A,p.R419Q |
| SLC11A1(NM_000578,solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1,550aa) | g.2:219256129G>A,c.1075G>A,p.A359T |
| SLC11A1(NM_000578,solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1,550aa) | g.2:219256102G>A,c.1048G>A,p.V350M |
| SLC11A1(NM_000578,solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1,550aa) | g.2:219255957G>A,c.991G>A,p.A331T |
| SLC11A1(NM_000578,solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1,550aa) | g.2:219254750C>T,c.953C>T,p.A318V |
| SLC11A1(NM_000578,solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1,550aa) | g.2:219254672T>C,c.875T>C,p.L292P |
| SLC11A1(NM_000578,solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1,550aa) | g.2:219252527T>C,c.644T>C,p.V215A |
| SLC11A1(NM_000578,solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1,550aa) | g.2:219251364C>T,c.400C>T,p.R134C |
| SLC11A1(NM_000578,solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1,550aa) | g.2:219249074G>A,c.259G>A,p.V87M |