| 基因名 | 突变 |
|---|---|
| KCNV1(NM_014379,potassium channel, subfamily V, member 1,500aa) | g.8:110984920T>G,c.558A>C,p.Q186H |
| KCNU1(NM_001031836,potassium channel, subfamily U, member 1,1149aa) | g.8:36793352T>A,c.3364T>A,p.L1122I |
| KCNU1(NM_001031836,potassium channel, subfamily U, member 1,1149aa) | g.8:36793269C>T,c.3281C>T,p.P1094L |
| KCNU1(NM_001031836,potassium channel, subfamily U, member 1,1149aa) | g.8:36788479A>G,c.2747A>G,p.N916S |
| KCNU1(NM_001031836,potassium channel, subfamily U, member 1,1149aa) | g.8:36780142G>A,c.2731G>A,p.A911T |
| KCNU1(NM_001031836,potassium channel, subfamily U, member 1,1149aa) | g.8:36780101C>T,c.2690C>T,p.T897M |
| KCNU1(NM_001031836,potassium channel, subfamily U, member 1,1149aa) | g.8:36768589G>A,c.2473G>A,p.G825R |
| KCNU1(NM_001031836,potassium channel, subfamily U, member 1,1149aa) | g.8:36768532C>G,c.2416C>G,p.P806A |
| KCNU1(NM_001031836,potassium channel, subfamily U, member 1,1149aa) | g.8:36768524C>T,c.2408C>T,p.P803L |
| KCNU1(NM_001031836,potassium channel, subfamily U, member 1,1149aa) | g.8:36767024T>C,c.2302T>C,p.W768R |
| KCNU1(NM_001031836,potassium channel, subfamily U, member 1,1149aa) | g.8:36766977T>C,c.2255T>C,p.V752A |
| KCNU1(NM_001031836,potassium channel, subfamily U, member 1,1149aa) | g.8:36703120C>A,c.1726C>A,p.P576T |
| KCNU1(NM_001031836,potassium channel, subfamily U, member 1,1149aa) | g.8:36698048G>A,c.1586G>A,p.R529H |
| KCNU1(NM_001031836,potassium channel, subfamily U, member 1,1149aa) | g.8:36691176C>T,c.1211C>T,p.A404V |
| KCNU1(NM_001031836,potassium channel, subfamily U, member 1,1149aa) | g.8:36675211G>A,c.1039G>A,p.A347T |
| KCNU1(NM_001031836,potassium channel, subfamily U, member 1,1149aa) | g.8:36641978T>C,c.50T>C,p.M17T |
| KCNT2(NM_198503,potassium channel, subfamily T, member 2,1135aa) | g.1:196577354T>C,c.86A>G,p.N29S |
| KCNT2(NM_198503,potassium channel, subfamily T, member 2,1135aa) | g.1:196295914C>G,c.2209G>C,p.V737L |
| KCNT2(NM_198503,potassium channel, subfamily T, member 2,1135aa) | g.1:196197374G>A,c.3388C>T,p.R1130W |
| KCNT1(NM_020822,potassium channel, subfamily T, member 1,1235aa) | g.9:138683990G>A,c.3691G>A,p.D1231N |
| KCNT1(NM_020822,potassium channel, subfamily T, member 1,1235aa) | g.9:138678253G>A,c.3388G>A,p.A1130T |
| KCNT1(NM_020822,potassium channel, subfamily T, member 1,1235aa) | g.9:138678248C>T,c.3383C>T,p.A1128V |
| KCNT1(NM_020822,potassium channel, subfamily T, member 1,1235aa) | g.9:138678160C>T,c.3295C>T,p.P1099S |
| KCNT1(NM_020822,potassium channel, subfamily T, member 1,1235aa) | g.9:138678154G>A,c.3289G>A,p.G1097S |
| KCNT1(NM_020822,potassium channel, subfamily T, member 1,1235aa) | g.9:138670290A>G,c.2543A>G,p.E848G |
| KCNT1(NM_020822,potassium channel, subfamily T, member 1,1235aa) | g.9:138664772C>G,c.2220C>G,p.D740E |
| KCNT1(NM_020822,potassium channel, subfamily T, member 1,1235aa) | g.9:138664762C>T,c.2210C>T,p.T737M |
| KCNT1(NM_020822,potassium channel, subfamily T, member 1,1235aa) | g.9:138664603C>T,c.2051C>T,p.T684M |