| 基因名 | 突变 |
|---|---|
| SLC12A5(NM_020708,solute carrier family 12 (potassium/chloride transporter), member 5,1116aa) | g.20:44684856G>A,c.2855G>A,p.R952H |
| SLC12A5(NM_020708,solute carrier family 12 (potassium/chloride transporter), member 5,1116aa) | g.20:44683651C>T,c.2776C>T,p.R926W |
| SLC12A5(NM_020708,solute carrier family 12 (potassium/chloride transporter), member 5,1116aa) | g.20:44671914A>T,c.1189A>T,p.T397S |
| SLC12A5(NM_020708,solute carrier family 12 (potassium/chloride transporter), member 5,1116aa) | g.20:44671875C>G,c.1150C>G,p.P384A |
| SLC12A5(NM_020708,solute carrier family 12 (potassium/chloride transporter), member 5,1116aa) | g.20:44669027G>A,c.628G>A,p.A210T |
| SLC12A5(NM_020708,solute carrier family 12 (potassium/chloride transporter), member 5,1116aa) | g.20:44664422C>T,c.286C>T,p.R96C |
| SLC12A4(NM_005072,solute carrier family 12 (potassium/chloride transporter), member 4,1085aa) | g.16:67997411G>A,c.167C>T,p.S56F |
| SLC12A4(NM_005072,solute carrier family 12 (potassium/chloride transporter), member 4,1085aa) | g.16:67995491C>T,c.329G>A,p.R110Q |
| SLC12A4(NM_005072,solute carrier family 12 (potassium/chloride transporter), member 4,1085aa) | g.16:67991805C>T,c.485G>A,p.C162Y |
| SLC12A4(NM_005072,solute carrier family 12 (potassium/chloride transporter), member 4,1085aa) | g.16:67986276G>A,c.728C>T,p.T243M |
| SLC12A4(NM_005072,solute carrier family 12 (potassium/chloride transporter), member 4,1085aa) | g.16:67986094C>T,c.910G>A,p.V304M |
| SLC12A4(NM_005072,solute carrier family 12 (potassium/chloride transporter), member 4,1085aa) | g.16:67984224G>A,c.1627C>T,p.R543W |
| SLC12A4(NM_005072,solute carrier family 12 (potassium/chloride transporter), member 4,1085aa) | g.16:67983745A>G,c.1706T>C,p.I569T |
| SLC12A4(NM_005072,solute carrier family 12 (potassium/chloride transporter), member 4,1085aa) | g.16:67981331T>C,c.1975A>G,p.K659E |
| SLC12A4(NM_005072,solute carrier family 12 (potassium/chloride transporter), member 4,1085aa) | g.16:67980419G>A,c.2359C>T,p.R787W |
| SLC12A4(NM_005072,solute carrier family 12 (potassium/chloride transporter), member 4,1085aa) | g.16:67980362G>A,c.2416C>T,p.R806C |
| SLC12A4(NM_005072,solute carrier family 12 (potassium/chloride transporter), member 4,1085aa) | g.16:67978999C>T,c.3157G>A,p.D1053N |
| SLC12A3(NM_000339,solute carrier family 12 (sodium/chloride transporter), member 3,1030aa) | g.16:56938314G>A,c.2891G>A,p.R964Q |
| SLC12A3(NM_000339,solute carrier family 12 (sodium/chloride transporter), member 3,1030aa) | g.16:56936365G>A,c.2828G>A,p.R943Q |
| SLC12A3(NM_000339,solute carrier family 12 (sodium/chloride transporter), member 3,1030aa) | g.16:56936319C>T,c.2782C>T,p.R928C |
| SLC12A3(NM_000339,solute carrier family 12 (sodium/chloride transporter), member 3,1030aa) | g.16:56933519G>A,c.2738G>A,p.R913Q |
| SLC12A3(NM_000339,solute carrier family 12 (sodium/chloride transporter), member 3,1030aa) | g.16:56928506G>A,c.2612G>A,p.R871H |
| SLC12A3(NM_000339,solute carrier family 12 (sodium/chloride transporter), member 3,1030aa) | g.16:56928499A>G,c.2605A>G,p.K869E |
| SLC12A3(NM_000339,solute carrier family 12 (sodium/chloride transporter), member 3,1030aa) | g.16:56926915T>A,c.2497T>A,p.S833T |
| SLC12A3(NM_000339,solute carrier family 12 (sodium/chloride transporter), member 3,1030aa) | g.16:56926024G>A,c.2398G>A,p.G800R |
| SLC12A3(NM_000339,solute carrier family 12 (sodium/chloride transporter), member 3,1030aa) | g.16:56921840G>A,c.2182G>A,p.A728T |
| SLC12A3(NM_000339,solute carrier family 12 (sodium/chloride transporter), member 3,1030aa) | g.16:56920968C>T,c.2141C>T,p.A714V |
| SLC12A3(NM_000339,solute carrier family 12 (sodium/chloride transporter), member 3,1030aa) | g.16:56920910G>A,c.2083G>A,p.G695R |