| 基因名 | 突变 |
|---|---|
| KCTD19(NM_001100915,potassium channel tetramerization domain containing 19,926aa) | g.16:67333464G>A,c.788C>T,p.P263L |
| KCTD19(NM_001100915,potassium channel tetramerization domain containing 19,926aa) | g.16:67333308C>T,c.944G>A,p.R315Q |
| KCTD19(NM_001100915,potassium channel tetramerization domain containing 19,926aa) | g.16:67328891T>G,c.1460A>C,p.Q487P |
| KCTD19(NM_001100915,potassium channel tetramerization domain containing 19,926aa) | g.16:67327642C>T,c.2023G>A,p.E675K |
| KCTD19(NM_001100915,potassium channel tetramerization domain containing 19,926aa) | g.16:67327545G>A,c.2120C>T,p.A707V |
| KCTD19(NM_001100915,potassium channel tetramerization domain containing 19,926aa) | g.16:67327470C>T,c.2195G>A,p.S732N |
| KCTD19(NM_001100915,potassium channel tetramerization domain containing 19,926aa) | g.16:67325711C>T,c.2248G>A,p.E750K |
| KCTD19(NM_001100915,potassium channel tetramerization domain containing 19,926aa) | g.16:67325566G>A,c.2393C>T,p.A798V |
| KCTD18(NM_152387,potassium channel tetramerization domain containing 18,426aa) | g.2:201371715C>T,c.25G>A,p.E9K |
| KCTD18(NM_152387,potassium channel tetramerization domain containing 18,426aa) | g.2:201369643T>C,c.200A>G,p.Y67C |
| KCTD18(NM_152387,potassium channel tetramerization domain containing 18,426aa) | g.2:201363740T>C,c.440A>G,p.Y147C |
| KCTD18(NM_152387,potassium channel tetramerization domain containing 18,426aa) | g.2:201357941G>A,c.718C>T,p.R240W |
| KCTD18(NM_152387,potassium channel tetramerization domain containing 18,426aa) | g.2:201355316G>A,c.788C>T,p.A263V |
| KCTD18(NM_152387,potassium channel tetramerization domain containing 18,426aa) | g.2:201355229G>A,c.875C>T,p.S292L |
| KCTD18(NM_152387,potassium channel tetramerization domain containing 18,426aa) | g.2:201355148C>A,c.956G>T,p.R319L |
| KCTD18(NM_152387,potassium channel tetramerization domain containing 18,426aa) | g.2:201355106G>A,c.998C>T,p.A333V |
| KCTD18(NM_152387,potassium channel tetramerization domain containing 18,426aa) | g.2:201355098C>A,c.1006G>T,p.G336C |
| KCTD18(NM_152387,potassium channel tetramerization domain containing 18,426aa) | g.2:201354960T>C,c.1144A>G,p.T382A |
| KCTD18(NM_152387,potassium channel tetramerization domain containing 18,426aa) | g.2:201354935C>G,c.1169G>C,p.C390S |
| KCTD18(NM_152387,potassium channel tetramerization domain containing 18,426aa) | g.2:201354866G>A,c.1238C>T,p.A413V |
| KCTD17(NM_024681,potassium channel tetramerization domain containing 17,297aa) | g.22:37458605C>G,c.865C>G,p.H289D |
| KCTD17(NM_024681,potassium channel tetramerization domain containing 17,297aa) | g.22:37457585G>A,c.740G>A,p.R247H |
| KCTD17(NM_024681,potassium channel tetramerization domain containing 17,297aa) | g.22:37453522C>T,c.496C>T,p.R166C |
| KCTD17(NM_024681,potassium channel tetramerization domain containing 17,297aa) | g.22:37447855G>A,c.76G>A,p.A26T |
| KCTD16(NM_020768,potassium channel tetramerization domain containing 16,428aa) | g.5:143853561A>G,c.1171A>G,p.I391V |
| KCTD16(NM_020768,potassium channel tetramerization domain containing 16,428aa) | g.5:143853555C>T,c.1165C>T,p.L389F |
| KCTD16(NM_020768,potassium channel tetramerization domain containing 16,428aa) | g.5:143587022G>A,c.745G>A,p.A249T |
| KCTD16(NM_020768,potassium channel tetramerization domain containing 16,428aa) | g.5:143586755G>A,c.478G>A,p.D160N |