| 基因名 | 突变 |
|---|---|
| KCNJ5(NM_000890,potassium inwardly-rectifying channel, subfamily J, member 5,419aa) | g.11:128781598A>G,c.430A>G,p.I144V |
| KCNJ4(NM_152868,potassium inwardly-rectifying channel, subfamily J, member 4,445aa) | g.22:38823044G>A,c.1094C>T,p.P365L |
| KCNJ3(NM_002239,potassium inwardly-rectifying channel, subfamily J, member 3,501aa) | g.2:155555406A>G,c.119A>G,p.K40R |
| KCNJ2(NM_000891,potassium inwardly-rectifying channel, subfamily J, member 2,427aa) | g.17:68172326C>T,c.1146C>T,p.L382L |
| KCNJ2(NM_000891,potassium inwardly-rectifying channel, subfamily J, member 2,427aa) | g.17:68171457G>A,c.277G>A,p.V93I |
| KCNJ1(NM_153767,potassium inwardly-rectifying channel, subfamily J, member 1,372aa) | g.11:128710122C>T,c.17G>A,p.R6Q |
| KCNJ1(NM_153767,potassium inwardly-rectifying channel, subfamily J, member 1,372aa) | g.11:128709984G>A,c.155C>T,p.T52M |
| KCNJ1(NM_153767,potassium inwardly-rectifying channel, subfamily J, member 1,372aa) | g.11:128709942A>T,c.197T>A,p.I66N |
| KCNJ1(NM_153767,potassium inwardly-rectifying channel, subfamily J, member 1,372aa) | g.11:128709940T>C,c.199A>G,p.T67A |
| KCNJ1(NM_153767,potassium inwardly-rectifying channel, subfamily J, member 1,372aa) | g.11:128709618G>A,c.521C>T,p.T174M |
| KCNJ1(NM_153767,potassium inwardly-rectifying channel, subfamily J, member 1,372aa) | g.11:128709571G>A,c.568C>T,p.L190F |
| KCNJ1(NM_153767,potassium inwardly-rectifying channel, subfamily J, member 1,372aa) | g.11:128709538G>A,c.601C>T,p.L201F |
| KCNJ1(NM_153767,potassium inwardly-rectifying channel, subfamily J, member 1,372aa) | g.11:128709126A>G,c.1013T>C,p.M338T |
| KCNJ18(NM_001194958,potassium inwardly-rectifying channel, subfamily J, member 18,433aa) | g.17:21319943A>G,c.1289A>G,p.E430G |
| KCNJ18(NM_001194958,potassium inwardly-rectifying channel, subfamily J, member 18,433aa) | g.17:21319909G>A,c.1255G>A,p.G419S |
| KCNJ18(NM_001194958,potassium inwardly-rectifying channel, subfamily J, member 18,433aa) | g.17:21319868G>T,c.1214G>T,p.S405I |
| KCNJ18(NM_001194958,potassium inwardly-rectifying channel, subfamily J, member 18,433aa) | g.17:21319860C>A,c.1206C>A,p.D402E |
| KCNJ18(NM_001194958,potassium inwardly-rectifying channel, subfamily J, member 18,433aa) | g.17:21319849C>T,c.1195C>T,p.R399X |
| KCNJ18(NM_001194958,potassium inwardly-rectifying channel, subfamily J, member 18,433aa) | g.17:21319786G>A,c.1132G>A,p.E378K |
| KCNJ18(NM_001194958,potassium inwardly-rectifying channel, subfamily J, member 18,433aa) | g.17:21319767C>G,c.1113C>G,p.S371R |
| KCNJ18(NM_001194958,potassium inwardly-rectifying channel, subfamily J, member 18,433aa) | g.17:21319682C>T,c.1028C>T,p.S343L |
| KCNJ18(NM_001194958,potassium inwardly-rectifying channel, subfamily J, member 18,433aa) | g.17:21319560G>T,c.906G>T,p.M302I |
| KCNJ18(NM_001194958,potassium inwardly-rectifying channel, subfamily J, member 18,433aa) | g.17:21319543G>A,c.889G>A,p.V297I |
| KCNJ18(NM_001194958,potassium inwardly-rectifying channel, subfamily J, member 18,433aa) | g.17:21319523C>T,c.869C>T,p.T290M |
| KCNJ18(NM_001194958,potassium inwardly-rectifying channel, subfamily J, member 18,433aa) | g.17:21319519G>C,c.865G>C,p.E289Q |
| KCNJ18(NM_001194958,potassium inwardly-rectifying channel, subfamily J, member 18,433aa) | g.17:21319439T>G,c.785T>G,p.I262S |
| KCNJ18(NM_001194958,potassium inwardly-rectifying channel, subfamily J, member 18,433aa) | g.17:21319436G>A,c.782G>A,p.R261H |
| KCNJ18(NM_001194958,potassium inwardly-rectifying channel, subfamily J, member 18,433aa) | g.17:21319408G>A,c.754G>A,p.D252N |