| 基因名 | 突变 |
|---|---|
| KCTD16(NM_020768,potassium channel tetramerization domain containing 16,428aa) | g.5:143586393G>A,c.116G>A,p.R39H |
| KCTD15(NM_024076,potassium channel tetramerization domain containing 15,234aa) | g.19:34302354C>T,c.590C>T,p.T197I |
| KCTD14(NM_001282406,potassium channel tetramerization domain containing 14,225aa) | g.11:77728181G>A,c.136C>T,p.R46C |
| KCTD14(NM_001282406,potassium channel tetramerization domain containing 14,225aa) | g.11:77728165C>T,c.152G>A,p.R51H |
| KCTD14(NM_001282406,potassium channel tetramerization domain containing 14,225aa) | g.11:77727947G>A,c.370C>T,p.R124C |
| KCTD14(NM_001282406,potassium channel tetramerization domain containing 14,225aa) | g.11:77727937C>T,c.380G>A,p.R127H |
| KCTD14(NM_001282406,potassium channel tetramerization domain containing 14,225aa) | g.11:77727916C>T,c.401G>A,p.R134Q |
| KCTD14(NM_001282406,potassium channel tetramerization domain containing 14,225aa) | g.11:77727790G>A,c.527C>T,p.A176V |
| KCTD13(NM_178863,potassium channel tetramerization domain containing 13,329aa) | g.16:29934654G>A,c.271C>T,p.R91C |
| KCTD11(NM_001002914,potassium channel tetramerization domain containing 11,232aa) | g.17:7256922C>A,c.661C>A,p.L221M |
| KCTD11(NM_001002914,potassium channel tetramerization domain containing 11,232aa) | g.17:7256674G>A,c.413G>A,p.R138Q |
| KCTD11(NM_001002914,potassium channel tetramerization domain containing 11,232aa) | g.17:7256305A>G,c.44A>G,p.N15S |
| KCTD10(NM_031954,potassium channel tetramerization domain containing 10,313aa) | g.12:109907478C>T,c.59G>A,p.R20H |
| KCNV2(NM_133497,potassium channel, subfamily V, member 2,545aa) | g.9:2729705T>C,c.1616T>C,p.L539P |
| KCNV2(NM_133497,potassium channel, subfamily V, member 2,545aa) | g.9:2729686C>G,c.1597C>G,p.L533V |
| KCNV2(NM_133497,potassium channel, subfamily V, member 2,545aa) | g.9:2729602G>T,c.1513G>T,p.A505S |
| KCNV2(NM_133497,potassium channel, subfamily V, member 2,545aa) | g.9:2719083G>C,c.1344G>C,p.W448C |
| KCNV2(NM_133497,potassium channel, subfamily V, member 2,545aa) | g.9:2718935C>T,c.1196C>T,p.A399V |
| KCNV2(NM_133497,potassium channel, subfamily V, member 2,545aa) | g.9:2718802T>C,c.1063T>C,p.F355L |
| KCNV2(NM_133497,potassium channel, subfamily V, member 2,545aa) | g.9:2718659T>G,c.920T>G,p.M307R |
| KCNV2(NM_133497,potassium channel, subfamily V, member 2,545aa) | g.9:2718415G>A,c.676G>A,p.V226I |
| KCNV2(NM_133497,potassium channel, subfamily V, member 2,545aa) | g.9:2718384G>C,c.645G>C,p.K215N |
| KCNV2(NM_133497,potassium channel, subfamily V, member 2,545aa) | g.9:2718180C>A,c.441C>A,p.D147E |
| KCNV2(NM_133497,potassium channel, subfamily V, member 2,545aa) | g.9:2718088G>A,c.349G>A,p.G117S |
| KCNV2(NM_133497,potassium channel, subfamily V, member 2,545aa) | g.9:2717984C>T,c.245C>T,p.T82I |
| KCNV2(NM_133497,potassium channel, subfamily V, member 2,545aa) | g.9:2717891A>G,c.152A>G,p.Y51C |
| KCNV2(NM_133497,potassium channel, subfamily V, member 2,545aa) | g.9:2717846G>A,c.107G>A,p.R36H |
| KCNV2(NM_133497,potassium channel, subfamily V, member 2,545aa) | g.9:2717819G>A,c.80G>A,p.R27H |