| 基因名 | 突变 |
|---|---|
| KCNK15(NM_022358,potassium channel, subfamily K, member 15,330aa) | g.20:43378802G>A,c.316G>A,p.G106S |
| KCNK15(NM_022358,potassium channel, subfamily K, member 15,330aa) | g.20:43378770A>G,c.284A>G,p.E95G |
| KCNK15(NM_022358,potassium channel, subfamily K, member 15,330aa) | g.20:43374694T>C,c.143T>C,p.L48P |
| KCNK15(NM_022358,potassium channel, subfamily K, member 15,330aa) | g.20:43374649C>T,c.98C>T,p.A33V |
| KCNK13(NM_022054,potassium channel, subfamily K, member 13,408aa) | g.14:90651130C>T,c.1010C>T,p.T337M |
| KCNK13(NM_022054,potassium channel, subfamily K, member 13,408aa) | g.14:90651111G>A,c.991G>A,p.G331R |
| KCNK13(NM_022054,potassium channel, subfamily K, member 13,408aa) | g.14:90651049G>A,c.929G>A,p.R310H |
| KCNK13(NM_022054,potassium channel, subfamily K, member 13,408aa) | g.14:90651033G>A,c.913G>A,p.G305R |
| KCNK13(NM_022054,potassium channel, subfamily K, member 13,408aa) | g.14:90651019C>T,c.899C>T,p.P300L |
| KCNK13(NM_022054,potassium channel, subfamily K, member 13,408aa) | g.14:90650617G>A,c.497G>A,p.R166Q |
| KCNK13(NM_022054,potassium channel, subfamily K, member 13,408aa) | g.14:90650548A>G,c.428A>G,p.N143S |
| KCNK13(NM_022054,potassium channel, subfamily K, member 13,408aa) | g.14:90528797G>A,c.248G>A,p.R83Q |
| KCNK12(NM_022055,potassium channel, subfamily K, member 12,430aa) | g.2:47748741G>A,c.598C>T,p.L200F |
| KCNK10(NM_138317,potassium channel, subfamily K, member 10,543aa) | g.14:88729809G>A,c.139C>T,p.R47C |
| KCNK10(NM_138317,potassium channel, subfamily K, member 10,543aa) | g.14:88658675G>A,c.761C>T,p.T254M |
| KCNK10(NM_138317,potassium channel, subfamily K, member 10,543aa) | g.14:88652277G>A,c.1234C>T,p.R412C |
| KCNK10(NM_138317,potassium channel, subfamily K, member 10,543aa) | g.14:88652240C>T,c.1271G>A,p.R424Q |
| KCNK10(NM_138317,potassium channel, subfamily K, member 10,543aa) | g.14:88652183G>A,c.1328C>T,p.A443V |
| KCNK10(NM_138317,potassium channel, subfamily K, member 10,543aa) | g.14:88652067G>A,c.1444C>T,p.R482W |
| KCNK10(NM_138317,potassium channel, subfamily K, member 10,543aa) | g.14:88651962C>T,c.1549G>A,p.A517T |
| KCNK10(NM_138317,potassium channel, subfamily K, member 10,543aa) | g.14:88651919C>T,c.1592G>A,p.R531Q |
| KCNJ9(NM_004983,potassium inwardly-rectifying channel, subfamily J, member 9,393aa) | g.1:160057522C>T,c.1097C>T,p.A366V |
| KCNJ8(NM_004982,potassium inwardly-rectifying channel, subfamily J, member 8,424aa) | g.12:21918931A>G,c.1001T>C,p.V334A |
| KCNJ8(NM_004982,potassium inwardly-rectifying channel, subfamily J, member 8,424aa) | g.12:21918667G>A,c.1265C>T,p.S422L |
| KCNJ6(NM_002240,potassium inwardly-rectifying channel, subfamily J, member 6,423aa) | g.21:39086965T>C,c.495A>G,p.P165P |
| KCNJ5(NM_000890,potassium inwardly-rectifying channel, subfamily J, member 5,419aa) | g.11:128786619C>T,c.1253C>T,p.S418L |
| KCNJ5(NM_000890,potassium inwardly-rectifying channel, subfamily J, member 5,419aa) | g.11:128786525G>C,c.1159G>C,p.G387R |
| KCNJ5(NM_000890,potassium inwardly-rectifying channel, subfamily J, member 5,419aa) | g.11:128782012C>G,c.844C>G,p.Q282E |