| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18608870_18608882del | CA2695231339 | CDKL5 | c.2004_2016del (p.Arg669LeufsTer?) c.1953_1965del (p.Arg652LeufsTer?) c.1872_1884del (p.Arg625LeufsTer?) n.2256_2268del | |
| X | g.18608880_18608881delinsAC | CA2417975832 | CDKL5 | c.2014_2015delinsAC (p.Thr672=) c.1963_1964delinsAC (p.Thr655=) c.1882_1883delinsAC (p.Thr628=) n.2266_2267delinsAC | |
| X | g.18608881C>A | CA412366051 | CDKL5 | c.2015C>A (p.Thr672Asn) c.1964C>A (p.Thr655Asn) c.1883C>A (p.Thr628Asn) n.2267C>A | |
| X | g.18608881C>G | CA412366052 | CDKL5 | c.2015C>G (p.Thr672Ser) c.1964C>G (p.Thr655Ser) c.1883C>G (p.Thr628Ser) n.2267C>G | |
| X | g.18608881C>T | CA412366054 | CDKL5 | c.2015C>T (p.Thr672Ile) c.1964C>T (p.Thr655Ile) c.1883C>T (p.Thr628Ile) n.2267C>T | gnomAD v4 |
| X | g.18608882dup | CA170467 | CDKL5 | c.2016dup (p.Ser673LeufsTer10) c.1965dup (p.Ser656LeufsTer10) c.1884dup (p.Ser629LeufsTer10) n.2268dup | ClinVar dbSNP |
| X | g.18608882del | CA170466 | CDKL5 | c.2016del (p.Ser673LeufsTer?) c.1965del (p.Ser656LeufsTer?) c.1884del (p.Ser629LeufsTer?) n.2268del | ClinVar dbSNP |
| X | g.18608882C>A | CA515472310 | CDKL5 | c.2016C>A (p.Thr672=) c.1965C>A (p.Thr655=) c.1884C>A (p.Thr628=) n.2268C>A | |
| X | g.18608882C>G | CA515472314 | CDKL5 | c.2016C>G (p.Thr672=) c.1965C>G (p.Thr655=) c.1884C>G (p.Thr628=) n.2268C>G | |
| X | g.18608882C>T | CA515472311 | CDKL5 | c.2016C>T (p.Thr672=) c.1965C>T (p.Thr655=) c.1884C>T (p.Thr628=) n.2268C>T | ClinVar gnomAD v4 |
| X | g.18608883T>A | CA412366057 | CDKL5 | c.2017T>A (p.Ser673Thr) c.1966T>A (p.Ser656Thr) c.1885T>A (p.Ser629Thr) n.2269T>A | |
| X | g.18608883T>C | CA412366059 | CDKL5 | c.2017T>C (p.Ser673Pro) c.1966T>C (p.Ser656Pro) c.1885T>C (p.Ser629Pro) n.2269T>C | |
| X | g.18608883T>G | CA412366061 | CDKL5 | c.2017T>G (p.Ser673Ala) c.1966T>G (p.Ser656Ala) c.1885T>G (p.Ser629Ala) n.2269T>G | |
| X | g.18608884C>A | CA412366063 | CDKL5 | c.2018C>A (p.Ser673Tyr) c.1967C>A (p.Ser656Tyr) c.1886C>A (p.Ser629Tyr) n.2270C>A | |
| X | g.18608884C>G | CA412366064 | CDKL5 | c.2018C>G (p.Ser673Cys) c.1967C>G (p.Ser656Cys) c.1886C>G (p.Ser629Cys) n.2270C>G | |
| X | g.18608884C>T | CA412366066 | CDKL5 | c.2018C>T (p.Ser673Phe) c.1967C>T (p.Ser656Phe) c.1886C>T (p.Ser629Phe) n.2270C>T | |
| X | g.18608889_18608892del | CA2695231340 | CDKL5 | c.2023_2026del (p.Phe675IlefsTer?) c.1972_1975del (p.Phe658IlefsTer?) c.1891_1894del (p.Phe631IlefsTer?) n.2275_2278del | |
| X | g.18608885T>A | CA515472323 | CDKL5 | c.2019T>A (p.Ser673=) c.1968T>A (p.Ser656=) c.1887T>A (p.Ser629=) n.2271T>A | |
| X | g.18608885T>C | CA515472326 | CDKL5 | c.2019T>C (p.Ser673=) c.1968T>C (p.Ser656=) c.1887T>C (p.Ser629=) n.2271T>C | |
| X | g.18608885T>G | CA515472324 | CDKL5 | c.2019T>G (p.Ser673=) c.1968T>G (p.Ser656=) c.1887T>G (p.Ser629=) n.2271T>G | |
| X | g.18608886T>A | CA412366069 | CDKL5 | c.2020T>A (p.Ser674Thr) c.1969T>A (p.Ser657Thr) c.1888T>A (p.Ser630Thr) n.2272T>A | COSMIC |
| X | g.18608886T>C | CA412366070 | CDKL5 | c.2020T>C (p.Ser674Pro) c.1969T>C (p.Ser657Pro) c.1888T>C (p.Ser630Pro) n.2272T>C | gnomAD v4 |
| X | g.18608886T>G | CA412366072 | CDKL5 | c.2020T>G (p.Ser674Ala) c.1969T>G (p.Ser657Ala) c.1888T>G (p.Ser630Ala) n.2272T>G | |
| X | g.18608886_18608887delinsTC | CA2417975834 | CDKL5 | c.2020_2021delinsTC (p.Ser674=) c.1969_1970delinsTC (p.Ser657=) c.1888_1889delinsTC (p.Ser630=) n.2272_2273delinsTC | |
| X | g.18608887C>A | CA412366078 | CDKL5 | c.2021C>A (p.Ser674Tyr) c.1970C>A (p.Ser657Tyr) c.1889C>A (p.Ser630Tyr) n.2273C>A | gnomAD v4 |
| X | g.18608887C>G | CA412366074 | CDKL5 | c.2021C>G (p.Ser674Cys) c.1970C>G (p.Ser657Cys) c.1889C>G (p.Ser630Cys) n.2273C>G | |
| X | g.18608887C>T | CA412366076 | CDKL5 | c.2021C>T (p.Ser674Phe) c.1970C>T (p.Ser657Phe) c.1889C>T (p.Ser630Phe) n.2273C>T | gnomAD v4 COSMIC |
| X | g.18608888del | CA16616462 | CDKL5 | c.2022del (p.Phe675SerfsTer?) c.1971del (p.Phe658SerfsTer?) c.1890del (p.Phe631SerfsTer?) n.2274del | ClinVar dbSNP |
| X | g.18608888C>A | CA515472335 | CDKL5 | c.2022C>A (p.Ser674=) c.1971C>A (p.Ser657=) c.1890C>A (p.Ser630=) n.2274C>A | gnomAD v4 |
| X | g.18608888C= | CA2417975835 | CDKL5 | c.2022C= (p.Ser674=) c.1971C= (p.Ser657=) c.1890C= (p.Ser630=) n.2274C= | |
| X | g.18608888C>G | CA10360441 | CDKL5 | c.2022C>G (p.Ser674=) c.1971C>G (p.Ser657=) c.1890C>G (p.Ser630=) n.2274C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18608888C>T | CA515472337 | CDKL5 | c.2022C>T (p.Ser674=) c.1971C>T (p.Ser657=) c.1890C>T (p.Ser630=) n.2274C>T | |
| X | g.18608889T>A | CA412366081 | CDKL5 | c.2023T>A (p.Phe675Ile) c.1972T>A (p.Phe658Ile) c.1891T>A (p.Phe631Ile) n.2275T>A | |
| X | g.18608889T>C | CA412366084 | CDKL5 | c.2023T>C (p.Phe675Leu) c.1972T>C (p.Phe658Leu) c.1891T>C (p.Phe631Leu) n.2275T>C | |
| X | g.18608889T>G | CA412366085 | CDKL5 | c.2023T>G (p.Phe675Val) c.1972T>G (p.Phe658Val) c.1891T>G (p.Phe631Val) n.2275T>G | |
| X | g.18608890T>A | CA412366087 | CDKL5 | c.2024T>A (p.Phe675Tyr) c.1973T>A (p.Phe658Tyr) c.1892T>A (p.Phe631Tyr) n.2276T>A | |
| X | g.18608890T>C | CA412366089 | CDKL5 | c.2024T>C (p.Phe675Ser) c.1973T>C (p.Phe658Ser) c.1892T>C (p.Phe631Ser) n.2276T>C | gnomAD v4 |
| X | g.18608890T>G | CA412366090 | CDKL5 | c.2024T>G (p.Phe675Cys) c.1973T>G (p.Phe658Cys) c.1892T>G (p.Phe631Cys) n.2276T>G | |
| X | g.18608890_18608891delinsTC | CA2417975836 | CDKL5 | c.2024_2025delinsTC (p.Phe675=) c.1973_1974delinsTC (p.Phe658=) c.1892_1893delinsTC (p.Phe631=) n.2276_2277delinsTC | |
| X | g.18608891C>A | CA412366092 | CDKL5 | c.2025C>A (p.Phe675Leu) c.1974C>A (p.Phe658Leu) c.1893C>A (p.Phe631Leu) n.2277C>A | |
| X | g.18608891C>G | CA412366094 | CDKL5 | c.2025C>G (p.Phe675Leu) c.1974C>G (p.Phe658Leu) c.1893C>G (p.Phe631Leu) n.2277C>G | |
| X | g.18608891C>T | CA515472347 | CDKL5 | c.2025C>T (p.Phe675=) c.1974C>T (p.Phe658=) c.1893C>T (p.Phe631=) n.2277C>T | |
| X | g.18608892del | CA1139667246 | CDKL5 | c.2026del (p.His676IlefsTer?) c.1975del (p.His659IlefsTer?) c.1894del (p.His632IlefsTer?) n.2278del | ClinVar dbSNP |
| X | g.18608892C>A | CA412366096 | CDKL5 | c.2026C>A (p.His676Asn) c.1975C>A (p.His659Asn) c.1894C>A (p.His632Asn) n.2278C>A | gnomAD v4 |
| X | g.18608892C>G | CA412366097 | CDKL5 | c.2026C>G (p.His676Asp) c.1975C>G (p.His659Asp) c.1894C>G (p.His632Asp) n.2278C>G | |
| X | g.18608892C>T | CA412366099 | CDKL5 | c.2026C>T (p.His676Tyr) c.1975C>T (p.His659Tyr) c.1894C>T (p.His632Tyr) n.2278C>T | |
| X | g.18608893A>C | CA412366101 | CDKL5 | c.2027A>C (p.His676Pro) c.1976A>C (p.His659Pro) c.1895A>C (p.His632Pro) n.2279A>C | |
| X | g.18608893A>G | CA412366102 | CDKL5 | c.2027A>G (p.His676Arg) c.1976A>G (p.His659Arg) c.1895A>G (p.His632Arg) n.2279A>G | gnomAD v4 |
| X | g.18608893A>T | CA412366103 | CDKL5 | c.2027A>T (p.His676Leu) c.1976A>T (p.His659Leu) c.1895A>T (p.His632Leu) n.2279A>T | |
| X | g.18608894T>A | CA412366104 | CDKL5 | c.2028T>A (p.His676Gln) c.1977T>A (p.His659Gln) c.1896T>A (p.His632Gln) n.2280T>A |