| 基因名 | 突变 |
|---|---|
| KDELC2(NM_153705,KDEL (Lys-Asp-Glu-Leu) containing 2,507aa) | g.11:108350036A>G,c.1285T>C,p.W429R |
| KDELC2(NM_153705,KDEL (Lys-Asp-Glu-Leu) containing 2,507aa) | g.11:108345575C>G,c.1503G>C,p.K501N |
| KDELC1(NM_024089,KDEL (Lys-Asp-Glu-Leu) containing 1,502aa) | g.13:103449222T>C,c.320A>G,p.Y107C |
| KDELC1(NM_024089,KDEL (Lys-Asp-Glu-Leu) containing 1,502aa) | g.13:103449202T>C,c.340A>G,p.I114V |
| KDELC1(NM_024089,KDEL (Lys-Asp-Glu-Leu) containing 1,502aa) | g.13:103443665T>C,c.788A>G,p.K263R |
| KDELC1(NM_024089,KDEL (Lys-Asp-Glu-Leu) containing 1,502aa) | g.13:103441528C>T,c.1127G>A,p.R376H |
| KCTD8(NM_198353,potassium channel tetramerization domain containing 8,473aa) | g.4:44177010G>A,c.1219C>T,p.R407C |
| KCTD8(NM_198353,potassium channel tetramerization domain containing 8,473aa) | g.4:44176847C>T,c.1382G>A,p.R461H |
| KCTD7(NM_153033,potassium channel tetramerization domain containing 7,289aa) | g.7:66098373T>C,c.256T>C,p.Y86H |
| KCTD3(NM_016121,potassium channel tetramerization domain containing 3,815aa) | g.1:215793935C>A,c.2423C>A,p.S808Y |
| KCTD3(NM_016121,potassium channel tetramerization domain containing 3,815aa) | g.1:215785260A>G,c.1559A>G,p.K520R |
| KCTD3(NM_016121,potassium channel tetramerization domain containing 3,815aa) | g.1:215759981G>A,c.770G>A,p.S257N |
| KCTD3(NM_016121,potassium channel tetramerization domain containing 3,815aa) | g.1:215741053T>G,c.25T>G,p.F9V |
| KCTD21(NM_001029859,potassium channel tetramerization domain containing 21,260aa) | g.11:77885450G>A,c.151C>T,p.R51C |
| KCTD21(NM_001029859,potassium channel tetramerization domain containing 21,260aa) | g.11:77884952T>C,c.649A>G,p.I217V |
| KCTD20(NM_173562,potassium channel tetramerization domain containing 20,419aa) | g.6:36454836G>A,c.1144G>A,p.G382R |
| KCTD20(NM_173562,potassium channel tetramerization domain containing 20,419aa) | g.6:36452603_36452604insA,c.967+2insA,p.323Donorins |
| KCTD20(NM_173562,potassium channel tetramerization domain containing 20,419aa) | g.6:36446975G>C,c.512G>C,p.S171T |
| KCTD20(NM_173562,potassium channel tetramerization domain containing 20,419aa) | g.6:36442764C>T,c.359C>T,p.T120M |
| KCTD20(NM_173562,potassium channel tetramerization domain containing 20,419aa) | g.6:36442678T>A,c.273T>A,p.H91Q |
| KCTD20(NM_173562,potassium channel tetramerization domain containing 20,419aa) | g.6:36442659G>A,c.254G>A,p.S85N |
| KCTD1(NM_001142730,potassium channel tetramerization domain containing 1,865aa) | g.18:24128223_24128225del,c.276_278del,p.92_93del |
| KCTD1(NM_001142730,potassium channel tetramerization domain containing 1,865aa) | g.18:24128184T>A,c.317A>T,p.E106V |
| KCTD1(NM_001142730,potassium channel tetramerization domain containing 1,865aa) | g.18:24039636G>A,c.2387C>T,p.T796M |
| KCTD1(NM_001142730,potassium channel tetramerization domain containing 1,865aa) | g.18:24035739C>T,c.2566G>A,p.V856I |
| KCTD1(NM_001142730,potassium channel tetramerization domain containing 1,865aa) | g.18:24035733G>A,c.2572C>T,p.R858W |
| KCTD19(NM_001100915,potassium channel tetramerization domain containing 19,926aa) | g.16:67338357A>T,c.418T>A,p.S140T |
| KCTD19(NM_001100915,potassium channel tetramerization domain containing 19,926aa) | g.16:67337057C>T,c.635G>A,p.R212H |