| 基因名 | 突变 |
|---|---|
| SLC12A7(NM_006598,solute carrier family 12 (potassium/chloride transporter), member 7,1083aa) | g.5:1084048G>A,c.941C>T,p.T314M |
| SLC12A7(NM_006598,solute carrier family 12 (potassium/chloride transporter), member 7,1083aa) | g.5:1083956C>T,c.1033G>A,p.G345S |
| SLC12A7(NM_006598,solute carrier family 12 (potassium/chloride transporter), member 7,1083aa) | g.5:1083941C>T,c.1048G>A,p.A350T |
| SLC12A7(NM_006598,solute carrier family 12 (potassium/chloride transporter), member 7,1083aa) | g.5:1083937G>A,c.1052C>T,p.A351V |
| SLC12A7(NM_006598,solute carrier family 12 (potassium/chloride transporter), member 7,1083aa) | g.5:1081767C>T,c.1222G>A,p.A408T |
| SLC12A7(NM_006598,solute carrier family 12 (potassium/chloride transporter), member 7,1083aa) | g.5:1078832C>T,c.1438G>A,p.V480M |
| SLC12A7(NM_006598,solute carrier family 12 (potassium/chloride transporter), member 7,1083aa) | g.5:1078124_1078125insGCAG,c.1455-2insCTGC,p.485Acceptorins |
| SLC12A7(NM_006598,solute carrier family 12 (potassium/chloride transporter), member 7,1083aa) | g.5:1077974G>A,c.1603C>T,p.R535C |
| SLC12A7(NM_006598,solute carrier family 12 (potassium/chloride transporter), member 7,1083aa) | g.5:1077973C>T,c.1604G>A,p.R535H |
| SLC12A7(NM_006598,solute carrier family 12 (potassium/chloride transporter), member 7,1083aa) | g.5:1076893G>A,c.1664C>T,p.T555M |
| SLC12A7(NM_006598,solute carrier family 12 (potassium/chloride transporter), member 7,1083aa) | g.5:1074757C>T,c.1997G>A,p.R666H |
| SLC12A7(NM_006598,solute carrier family 12 (potassium/chloride transporter), member 7,1083aa) | g.5:1074718C>T,c.2036G>A,p.R679H |
| SLC12A7(NM_006598,solute carrier family 12 (potassium/chloride transporter), member 7,1083aa) | g.5:1073884G>A,c.2105C>T,p.A702V |
| SLC12A7(NM_006598,solute carrier family 12 (potassium/chloride transporter), member 7,1083aa) | g.5:1073861G>A,c.2128C>T,p.R710C |
| SLC12A7(NM_006598,solute carrier family 12 (potassium/chloride transporter), member 7,1083aa) | g.5:1073842G>A,c.2147C>T,p.S716L |
| SLC12A7(NM_006598,solute carrier family 12 (potassium/chloride transporter), member 7,1083aa) | g.5:1073756C>A,c.2233G>T,p.A745S |
| SLC12A7(NM_006598,solute carrier family 12 (potassium/chloride transporter), member 7,1083aa) | g.5:1073753C>T,c.2236G>A,p.E746K |
| SLC12A7(NM_006598,solute carrier family 12 (potassium/chloride transporter), member 7,1083aa) | g.5:1065551A>G,c.2284T>C,p.C762R |
| SLC12A7(NM_006598,solute carrier family 12 (potassium/chloride transporter), member 7,1083aa) | g.5:1065514A>G,c.2321T>C,p.M774T |
| SLC12A7(NM_006598,solute carrier family 12 (potassium/chloride transporter), member 7,1083aa) | g.5:1065415G>A,c.2420C>T,p.S807F |
| SLC12A7(NM_006598,solute carrier family 12 (potassium/chloride transporter), member 7,1083aa) | g.5:1065399C>T,c.2436G>A,p.V812V |
| SLC12A7(NM_006598,solute carrier family 12 (potassium/chloride transporter), member 7,1083aa) | g.5:1064344C>T,c.2461G>A,p.A821T |
| SLC12A7(NM_006598,solute carrier family 12 (potassium/chloride transporter), member 7,1083aa) | g.5:1064311C>T,c.2494G>A,p.D832N |
| SLC12A7(NM_006598,solute carrier family 12 (potassium/chloride transporter), member 7,1083aa) | g.5:1064307G>A,c.2498C>T,p.S833L |
| SLC12A7(NM_006598,solute carrier family 12 (potassium/chloride transporter), member 7,1083aa) | g.5:1057736G>A,c.2876C>T,p.A959V |
| SLC12A6(NM_001042496,solute carrier family 12 (potassium/chloride transporter), member 6,1141aa) | g.15:34546655G>A,c.985C>T,p.R329C |
| SLC12A6(NM_001042496,solute carrier family 12 (potassium/chloride transporter), member 6,1141aa) | g.15:34544565C>T,c.1112G>A,p.R371H |
| SLC12A6(NM_001042496,solute carrier family 12 (potassium/chloride transporter), member 6,1141aa) | g.15:34543180C>G,c.1385G>C,p.S462T |