| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18619871del | CA2693223298 | CDKL5 | c.2281del (p.Ser761ValfsTer23) c.2230del (p.Ser744ValfsTer23) c.2149del (p.Ser717ValfsTer23) n.2533del | gnomAD v4 |
| X | g.18619871A>C | CA412363134 | CDKL5 | c.2281A>C (p.Ser761Arg) c.2230A>C (p.Ser744Arg) c.2149A>C (p.Ser717Arg) n.2533A>C | |
| X | g.18619871A>G | CA412363137 | CDKL5 | c.2281A>G (p.Ser761Gly) c.2230A>G (p.Ser744Gly) c.2149A>G (p.Ser717Gly) n.2533A>G | |
| X | g.18619871A>T | CA412363138 | CDKL5 | c.2281A>T (p.Ser761Cys) c.2230A>T (p.Ser744Cys) c.2149A>T (p.Ser717Cys) n.2533A>T | |
| X | g.18619872G>A | CA412363141 | CDKL5 | c.2282G>A (p.Ser761Asn) c.2231G>A (p.Ser744Asn) c.2150G>A (p.Ser717Asn) n.2534G>A | |
| X | g.18619872G>C | CA412363144 | CDKL5 | c.2282G>C (p.Ser761Thr) c.2231G>C (p.Ser744Thr) c.2150G>C (p.Ser717Thr) n.2534G>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.18619872G= | CA2417979418 | CDKL5 | c.2282G= (p.Ser761=) c.2231G= (p.Ser744=) c.2150G= (p.Ser717=) n.2534G= | |
| X | g.18619872G>T | CA412363150 | CDKL5 | c.2282G>T (p.Ser761Ile) c.2231G>T (p.Ser744Ile) c.2150G>T (p.Ser717Ile) n.2534G>T | |
| X | g.18619873T>A | CA412363154 | CDKL5 | c.2283T>A (p.Ser761Arg) c.2232T>A (p.Ser744Arg) c.2151T>A (p.Ser717Arg) n.2535T>A | |
| X | g.18619873T>C | CA515470225 | CDKL5 | c.2283T>C (p.Ser761=) c.2232T>C (p.Ser744=) c.2151T>C (p.Ser717=) n.2535T>C | |
| X | g.18619873T>G | CA412363159 | CDKL5 | c.2283T>G (p.Ser761Arg) c.2232T>G (p.Ser744Arg) c.2151T>G (p.Ser717Arg) n.2535T>G | |
| X | g.18619874C>A | CA412363171 | CDKL5 | c.2284C>A (p.Pro762Thr) c.2233C>A (p.Pro745Thr) c.2152C>A (p.Pro718Thr) n.2536C>A | gnomAD v4 |
| X | g.18619874C>G | CA412363176 | CDKL5 | c.2284C>G (p.Pro762Ala) c.2233C>G (p.Pro745Ala) c.2152C>G (p.Pro718Ala) n.2536C>G | |
| X | g.18619874C>T | CA412363179 | CDKL5 | c.2284C>T (p.Pro762Ser) c.2233C>T (p.Pro745Ser) c.2152C>T (p.Pro718Ser) n.2536C>T | gnomAD v4 |
| X | g.18619874_18619877del | CA2500192229 | CDKL5 | c.2284_2287del (p.Pro762LysfsTer21) c.2233_2236del (p.Pro745LysfsTer21) c.2152_2155del (p.Pro718LysfsTer21) n.2536_2539del | |
| X | g.18619875C>A | CA412363206 | CDKL5 | c.2285C>A (p.Pro762His) c.2234C>A (p.Pro745His) c.2153C>A (p.Pro718His) n.2537C>A | gnomAD v4 |
| X | g.18619875C= | CA2417979419 | CDKL5 | c.2285C= (p.Pro762=) c.2234C= (p.Pro745=) c.2153C= (p.Pro718=) n.2537C= | |
| X | g.18619875C>G | CA412363198 | CDKL5 | c.2285C>G (p.Pro762Arg) c.2234C>G (p.Pro745Arg) c.2153C>G (p.Pro718Arg) n.2537C>G | |
| X | g.18619875C>T | CA412363192 | CDKL5 | c.2285C>T (p.Pro762Leu) c.2234C>T (p.Pro745Leu) c.2153C>T (p.Pro718Leu) n.2537C>T | dbSNP gnomAD v4 |
| X | g.18619876T>A | CA515470226 | CDKL5 | c.2286T>A (p.Pro762=) c.2235T>A (p.Pro745=) c.2154T>A (p.Pro718=) n.2538T>A | |
| X | g.18619876T>C | CA515470228 | CDKL5 | c.2286T>C (p.Pro762=) c.2235T>C (p.Pro745=) c.2154T>C (p.Pro718=) n.2538T>C | gnomAD v4 |
| X | g.18619876T>G | CA515470227 | CDKL5 | c.2286T>G (p.Pro762=) c.2235T>G (p.Pro745=) c.2154T>G (p.Pro718=) n.2538T>G | |
| X | g.18619877G>A | CA412363212 | CDKL5 | c.2287G>A (p.Glu763Lys) c.2236G>A (p.Glu746Lys) c.2155G>A (p.Glu719Lys) n.2539G>A | gnomAD v4 |
| X | g.18619877G>C | CA412363210 | CDKL5 | c.2287G>C (p.Glu763Gln) c.2236G>C (p.Glu746Gln) c.2155G>C (p.Glu719Gln) n.2539G>C | |
| X | g.18619877G>T | CA412363211 | CDKL5 | c.2287G>T (p.Glu763Ter) c.2236G>T (p.Glu746Ter) c.2155G>T (p.Glu719Ter) n.2539G>T | |
| X | g.18619878A>C | CA412363213 | CDKL5 | c.2288A>C (p.Glu763Ala) c.2237A>C (p.Glu746Ala) c.2156A>C (p.Glu719Ala) n.2540A>C | |
| X | g.18619878A>G | CA412363216 | CDKL5 | c.2288A>G (p.Glu763Gly) c.2237A>G (p.Glu746Gly) c.2156A>G (p.Glu719Gly) n.2540A>G | gnomAD v4 |
| X | g.18619878A>T | CA412363217 | CDKL5 | c.2288A>T (p.Glu763Val) c.2237A>T (p.Glu746Val) c.2156A>T (p.Glu719Val) n.2540A>T | |
| X | g.18619879_18619881dup | CA2519742943 | CDKL5 | c.2289_2291dup (p.Glu763_Asn764insLys) c.2238_2240dup (p.Glu746_Asn747insLys) c.2157_2159dup (p.Glu719_Asn720insLys) n.2541_2543dup | |
| X | g.18619879A>C | CA412363222 | CDKL5 | c.2289A>C (p.Glu763Asp) c.2238A>C (p.Glu746Asp) c.2157A>C (p.Glu719Asp) n.2541A>C | gnomAD v4 |
| X | g.18619879A>G | CA515470229 | CDKL5 | c.2289A>G (p.Glu763=) c.2238A>G (p.Glu746=) c.2157A>G (p.Glu719=) n.2541A>G | |
| X | g.18619879A>T | CA412363232 | CDKL5 | c.2289A>T (p.Glu763Asp) c.2238A>T (p.Glu746Asp) c.2157A>T (p.Glu719Asp) n.2541A>T | |
| X | g.18619880A>C | CA412363239 | CDKL5 | c.2290A>C (p.Asn764His) c.2239A>C (p.Asn747His) c.2158A>C (p.Asn720His) n.2542A>C | |
| X | g.18619880A>G | CA412363236 | CDKL5 | c.2290A>G (p.Asn764Asp) c.2239A>G (p.Asn747Asp) c.2158A>G (p.Asn720Asp) n.2542A>G | |
| X | g.18619880A>T | CA412363237 | CDKL5 | c.2290A>T (p.Asn764Tyr) c.2239A>T (p.Asn747Tyr) c.2158A>T (p.Asn720Tyr) n.2542A>T | |
| X | g.18619881A>C | CA412363242 | CDKL5 | c.2291A>C (p.Asn764Thr) c.2240A>C (p.Asn747Thr) c.2159A>C (p.Asn720Thr) n.2543A>C | |
| X | g.18619881A>G | CA412363245 | CDKL5 | c.2291A>G (p.Asn764Ser) c.2240A>G (p.Asn747Ser) c.2159A>G (p.Asn720Ser) n.2543A>G | |
| X | g.18619881A>T | CA412363248 | CDKL5 | c.2291A>T (p.Asn764Ile) c.2240A>T (p.Asn747Ile) c.2159A>T (p.Asn720Ile) n.2543A>T | |
| X | g.18619882T>A | CA412363251 | CDKL5 | c.2292T>A (p.Asn764Lys) c.2241T>A (p.Asn747Lys) c.2160T>A (p.Asn720Lys) n.2544T>A | |
| X | g.18619882T>C | CA515470230 | CDKL5 | c.2292T>C (p.Asn764=) c.2241T>C (p.Asn747=) c.2160T>C (p.Asn720=) n.2544T>C | dbSNP |
| X | g.18619882T>G | CA412363254 | CDKL5 | c.2292T>G (p.Asn764Lys) c.2241T>G (p.Asn747Lys) c.2160T>G (p.Asn720Lys) n.2544T>G | |
| X | g.18619882T= | CA2417979420 | CDKL5 | c.2292T= (p.Asn764=) c.2241T= (p.Asn747=) c.2160T= (p.Asn720=) n.2544T= | |
| X | g.18619883A>C | CA412363269 | CDKL5 | c.2293A>C (p.Ile765Leu) c.2242A>C (p.Ile748Leu) c.2161A>C (p.Ile721Leu) n.2545A>C | |
| X | g.18619883A>G | CA412363272 | CDKL5 | c.2293A>G (p.Ile765Val) c.2242A>G (p.Ile748Val) c.2161A>G (p.Ile721Val) n.2545A>G | |
| X | g.18619883A>T | CA412363270 | CDKL5 | c.2293A>T (p.Ile765Phe) c.2242A>T (p.Ile748Phe) c.2161A>T (p.Ile721Phe) n.2545A>T | |
| X | g.18619884T>A | CA412363275 | CDKL5 | c.2294T>A (p.Ile765Asn) c.2243T>A (p.Ile748Asn) c.2162T>A (p.Ile721Asn) n.2546T>A | |
| X | g.18619884T>C | CA412363278 | CDKL5 | c.2294T>C (p.Ile765Thr) c.2243T>C (p.Ile748Thr) c.2162T>C (p.Ile721Thr) n.2546T>C | |
| X | g.18619884T>G | CA412363282 | CDKL5 | c.2294T>G (p.Ile765Ser) c.2243T>G (p.Ile748Ser) c.2162T>G (p.Ile721Ser) n.2546T>G | |
| X | g.18619885del | CA2693223299 | CDKL5 | c.2295del (p.Ser766ValfsTer18) c.2244del (p.Ser749ValfsTer18) c.2163del (p.Ser722ValfsTer18) n.2547del | gnomAD v4 |
| X | g.18619885T>A | CA515470232 | CDKL5 | c.2295T>A (p.Ile765=) c.2244T>A (p.Ile748=) c.2163T>A (p.Ile721=) n.2547T>A |