| 基因名 | 突变 |
|---|---|
| KCNK18(NM_181840,potassium channel, subfamily K, member 18,384aa) | g.10:118969764T>C,c.1109T>C,p.M370T |
| KCNK18(NM_181840,potassium channel, subfamily K, member 18,384aa) | g.10:118969418G>A,c.763G>A,p.E255K |
| KCNK18(NM_181840,potassium channel, subfamily K, member 18,384aa) | g.10:118969410C>T,c.755C>T,p.S252L |
| KCNK18(NM_181840,potassium channel, subfamily K, member 18,384aa) | g.10:118969380T>C,c.725T>C,p.L242P |
| KCNK18(NM_181840,potassium channel, subfamily K, member 18,384aa) | g.10:118969353C>T,c.698C>T,p.A233V |
| KCNK18(NM_181840,potassium channel, subfamily K, member 18,384aa) | g.10:118969346T>C,c.691T>C,p.S231P |
| KCNK18(NM_181840,potassium channel, subfamily K, member 18,384aa) | g.10:118969248C>G,c.593C>G,p.A198G |
| KCNK18(NM_181840,potassium channel, subfamily K, member 18,384aa) | g.10:118969154C>T,c.499C>T,p.R167X |
| KCNK18(NM_181840,potassium channel, subfamily K, member 18,384aa) | g.10:118960774T>C,c.328T>C,p.C110R |
| KCNK18(NM_181840,potassium channel, subfamily K, member 18,384aa) | g.10:118957057C>G,c.58C>G,p.L20V |
| KCNK18(NM_181840,potassium channel, subfamily K, member 18,384aa) | g.10:118957027A>G,c.28A>G,p.R10G |
| KCNK17(NM_001135111,potassium channel, subfamily K, member 17,271aa) | g.6:39282045C>T,c.52G>A,p.A18T |
| KCNK17(NM_001135111,potassium channel, subfamily K, member 17,271aa) | g.6:39282036T>C,c.61A>G,p.S21G |
| KCNK17(NM_001135111,potassium channel, subfamily K, member 17,271aa) | g.6:39281949C>A,c.148G>T,p.D50Y |
| KCNK17(NM_001135111,potassium channel, subfamily K, member 17,271aa) | g.6:39281916C>T,c.181G>A,p.E61K |
| KCNK17(NM_001135111,potassium channel, subfamily K, member 17,271aa) | g.6:39278759C>T,c.262G>A,p.G88R |
| KCNK17(NM_001135111,potassium channel, subfamily K, member 17,271aa) | g.6:39278756C>T,c.265G>A,p.A89T |
| KCNK17(NM_001135111,potassium channel, subfamily K, member 17,271aa) | g.6:39272395C>T,c.389G>A,p.R130H |
| KCNK17(NM_001135111,potassium channel, subfamily K, member 17,271aa) | g.6:39271757C>T,c.664G>A,p.V222M |
| KCNK17(NM_001135111,potassium channel, subfamily K, member 17,271aa) | g.6:39268243G>A,c.745C>T,p.R249W |
| KCNK16(NM_001135105,potassium channel, subfamily K, member 16,322aa) | g.6:39285648C>T,c.409G>A,p.V137M |
| KCNK16(NM_001135105,potassium channel, subfamily K, member 16,322aa) | g.6:39284705G>C,c.514C>G,p.L172V |
| KCNK16(NM_001135105,potassium channel, subfamily K, member 16,322aa) | g.6:39283039G>C,c.830C>G,p.P277R |
| KCNK15(NM_022358,potassium channel, subfamily K, member 15,330aa) | g.20:43379454T>C,c.968T>C,p.L323P |
| KCNK15(NM_022358,potassium channel, subfamily K, member 15,330aa) | g.20:43379383C>G,c.897C>G,p.C299W |
| KCNK15(NM_022358,potassium channel, subfamily K, member 15,330aa) | g.20:43379268C>A,c.782C>A,p.P261H |
| KCNK15(NM_022358,potassium channel, subfamily K, member 15,330aa) | g.20:43379264A>C,c.778A>C,p.T260P |
| KCNK15(NM_022358,potassium channel, subfamily K, member 15,330aa) | g.20:43378919T>C,c.433T>C,p.C145R |