Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.50411224dup | CA963038074 | CDKL1 | n.37-574dup | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50411224T>A | CA2801541431 | CDKL1 | n.37-576A>T | |
14 | g.50411224T>C | CA613858267 | CDKL1 | n.37-576A>G | dbSNP gnomAD v2 |
14 | g.50411224T= | CA2136187862 | CDKL1 | n.37-576A= | |
14 | g.50411227A= | CA2136187863 | CDKL1 | n.37-579T= | |
14 | g.50411227A>G | CA613858268 | CDKL1 | n.37-579T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50411228T>C | CA706566243 | CDKL1 | n.37-580A>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50411228T= | CA2136187864 | CDKL1 | n.37-580A= | |
14 | g.50411229G= | CA2136187865 | CDKL1 | n.37-581C= | |
14 | g.50411229G>T | CA260776950 | CDKL1 | n.37-581C>A | dbSNP |
14 | g.50411236G>A | CA706566246 | CDKL1 | n.37-588C>T | dbSNP |
14 | g.50411236G= | CA2136187866 | CDKL1 | n.37-588C= | |
14 | g.50411241G>C | CA963038078 | CDKL1 | n.37-593C>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50411241G= | CA2136187867 | CDKL1 | n.37-593C= | |
14 | g.50411242G>A | CA706566248 | CDKL1 | n.37-594C>T | dbSNP |
14 | g.50411242G= | CA2136187868 | CDKL1 | n.37-594C= | |
14 | g.50411243A>G | CA2529621658 | CDKL1 | n.37-595T>C | |
14 | g.50411246C>T | CA2801541432 | CDKL1 | n.37-598G>A | |
14 | g.50411247C= | CA2136187870 | CDKL1 | n.37-599G= | |
14 | g.50411247C>T | CA2136187869 | CDKL1 | n.37-599G>A | dbSNP |
14 | g.50411248C>A | CA2572945047 | CDKL1 | n.37-600G>T | |
14 | g.50411249T>G | CA2553838021 | CDKL1 | n.37-601A>C | |
14 | g.50411254C>T | CA2506866624 | CDKL1 | n.37-606G>A | |
14 | g.50411259G>A | CA963038085 | CDKL1 | n.37-611C>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50411259G= | CA2136187871 | CDKL1 | n.37-611C= | |
14 | g.50411260C= | CA2136187872 | CDKL1 | n.37-612G= | |
14 | g.50411260C>T | CA260776971 | CDKL1 | n.37-612G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50411265A= | CA2136187873 | CDKL1 | n.37-617T= | |
14 | g.50411265A>C | CA2581169342 | CDKL1 | n.37-617T>G | |
14 | g.50411265A>G | CA15810791 | CDKL1 | n.37-617T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50411265A>T | CA2581169341 | CDKL1 | n.37-617T>A | gnomAD v3 gnomAD v4 |
14 | g.50411270A= | CA2136187874 | CDKL1 | n.37-622T= | |
14 | g.50411270A>G | CA706566250 | CDKL1 | n.37-622T>C | dbSNP |
14 | g.50411271T>C | CA2136187876 | CDKL1 | n.37-623A>G | dbSNP |
14 | g.50411271T= | CA2136187875 | CDKL1 | n.37-623A= | |
14 | g.50411272G>A | CA2136187877 | CDKL1 | n.37-624C>T | dbSNP |
14 | g.50411272G= | CA2136187878 | CDKL1 | n.37-624C= | |
14 | g.50411273A= | CA2136187879 | CDKL1 | n.37-625T= | |
14 | g.50411273A>G | CA260776990 | CDKL1 | n.37-625T>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50411273A>T | CA613858269 | CDKL1 | n.37-625T>A | dbSNP gnomAD v2 |
14 | g.50411275C>T | CA2729652300 | CDKL1 | n.37-627G>A | dbSNP |
14 | g.50411277A= | CA2136187880 | CDKL1 | n.37-629T= | |
14 | g.50411277A>G | CA963038091 | CDKL1 | n.37-629T>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50411280G>A | CA2136187882 | CDKL1 | n.37-632C>T | dbSNP |
14 | g.50411280G= | CA2136187881 | CDKL1 | n.37-632C= | |
14 | g.50411280G>T | CA2136187883 | CDKL1 | n.37-632C>A | dbSNP |
14 | g.50411283A= | CA2136187884 | CDKL1 | n.37-635T= | |
14 | g.50411283A>G | CA706566253 | CDKL1 | n.37-635T>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50411284T>C | CA2136187886 | CDKL1 | n.37-636A>G | dbSNP |
14 | g.50411284T= | CA2136187885 | CDKL1 | n.37-636A= | |
14 | g.50411287C= | CA2136187887 | CDKL1 | n.37-639G= | |
14 | g.50411287C>G | CA613858270 | CDKL1 | n.37-639G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50411287C>T | CA2801541433 | CDKL1 | n.37-639G>A | |
14 | g.50411288T>A | CA2729563688 | CDKL1 | n.37-640A>T | dbSNP |
14 | g.50411288T>C | CA706566259 | CDKL1 | n.37-640A>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50411288T= | CA2136187888 | CDKL1 | n.37-640A= | |
14 | g.50411290G= | CA2136187889 | CDKL1 | n.37-642C= | |
14 | g.50411290G>T | CA2136187890 | CDKL1 | n.37-642C>A | dbSNP |
14 | g.50411291A>G | CA2729652344 | CDKL1 | n.37-643T>C | dbSNP |
14 | g.50411294C= | CA2136187891 | CDKL1 | n.37-646G= | |
14 | g.50411294C>T | CA963038101 | CDKL1 | n.37-646G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50411295T>G | CA260776995 | CDKL1 | n.37-647A>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50411295T= | CA2136187892 | CDKL1 | n.37-647A= | |
14 | g.50411297_50411299delinsTTG | CA2136187893 | CDKL1 | n.37-651_37-649delinsCAA | |
14 | g.50411301_50411302del | CA2136187894 | CDKL1 | n.37-651_37-650del | dbSNP |
14 | g.50411300T>A | CA2136187895 | CDKL1 | n.37-652A>T | dbSNP |
14 | g.50411300T= | CA2136187896 | CDKL1 | n.37-652A= | |
14 | g.50411304T>G | CA706566260 | CDKL1 | n.37-656A>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50411304T= | CA2136187897 | CDKL1 | n.37-656A= | |
14 | g.50411308A= | CA2136187898 | CDKL1 | n.37-660T= | |
14 | g.50411308A>G | CA963038113 | CDKL1 | n.37-660T>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50411312A= | CA2136187899 | CDKL1 | n.37-664T= | |
14 | g.50411312A>G | CA2136187900 | CDKL1 | n.37-664T>C | dbSNP |
14 | g.50411313T>C | CA706566261 | CDKL1 | n.37-665A>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50411313T= | CA2136187901 | CDKL1 | n.37-665A= | |
14 | g.50411314T>A | CA613858271 | CDKL1 | n.37-666A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50411314T= | CA2136187902 | CDKL1 | n.37-666A= | |
14 | g.50411315G= | CA2136187903 | CDKL1 | n.37-667C= | |
14 | g.50411315G>T | CA706566264 | CDKL1 | n.37-667C>A | dbSNP |
14 | g.50411316T>A | CA260777000 | CDKL1 | n.37-668A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50411316T= | CA2136187904 | CDKL1 | n.37-668A= | |
14 | g.50411320A>C | CA963038123 | CDKL1 | n.37-672T>G | gnomAD v3 gnomAD v4 |
14 | g.50411324T>G | CA260777018 | CDKL1 | n.37-676A>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50411324T= | CA2136187905 | CDKL1 | n.37-676A= |