Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.18608802del | CA2693222844 | CDKL5 | c.1945-9del (n.1945-9del) c.1894-9del (n.1894-9del) c.1813-9del (n.1813-9del) n.2197-9del | gnomAD v4 |
X | g.18608800T>C | CA2693222845 | CDKL5 | c.1945-11T>C (n.1945-11T>C) c.1894-11T>C (n.1894-11T>C) c.1813-11T>C (n.1813-11T>C) n.2197-11T>C | gnomAD v4 |
X | g.18608800T>G | CA640512833 | CDKL5 | c.1945-11T>G (n.1945-11T>G) c.1894-11T>G (n.1894-11T>G) c.1813-11T>G (n.1813-11T>G) n.2197-11T>G | dbSNP gnomAD v2 gnomAD v4 |
X | g.18608800T= | CA2417975811 | CDKL5 | c.1945-11T= (n.1945-11T=) c.1894-11T= (n.1894-11T=) c.1813-11T= (n.1813-11T=) n.2197-11T= | |
X | g.18608801T>C | CA2693222846 | CDKL5 | c.1945-10T>C (n.1945-10T>C) c.1894-10T>C (n.1894-10T>C) c.1813-10T>C (n.1813-10T>C) n.2197-10T>C | gnomAD v4 |
X | g.18608803A>C | CA2573158477 | CDKL5 | c.1945-8A>C (n.1945-8A>C) c.1894-8A>C (n.1894-8A>C) c.1813-8A>C (n.1813-8A>C) n.2197-8A>C | ClinVar dbSNP gnomAD v4 |
X | g.18608803A>G | CA2693222847 | CDKL5 | c.1945-8A>G (n.1945-8A>G) c.1894-8A>G (n.1894-8A>G) c.1813-8A>G (n.1813-8A>G) n.2197-8A>G | gnomAD v4 |
X | g.18608803A>T | CA2579562959 | CDKL5 | c.1945-8A>T (n.1945-8A>T) c.1894-8A>T (n.1894-8A>T) c.1813-8A>T (n.1813-8A>T) n.2197-8A>T | gnomAD v4 |
X | g.18608804C>A | CA2693222848 | CDKL5 | c.1945-7C>A (n.1945-7C>A) c.1894-7C>A (n.1894-7C>A) c.1813-7C>A (n.1813-7C>A) n.2197-7C>A | gnomAD v4 |
X | g.18608805T>C | CA2693222849 | CDKL5 | c.1945-6T>C (n.1945-6T>C) c.1894-6T>C (n.1894-6T>C) c.1813-6T>C (n.1813-6T>C) n.2197-6T>C | gnomAD v4 |
X | g.18608806T>C | CA16621281 | CDKL5 | c.1945-5T>C (n.1945-5T>C) c.1894-5T>C (n.1894-5T>C) c.1813-5T>C (n.1813-5T>C) n.2197-5T>C | ClinVar dbSNP gnomAD v4 |
X | g.18608806T= | CA2417975812 | CDKL5 | c.1945-5T= (n.1945-5T=) c.1894-5T= (n.1894-5T=) c.1813-5T= (n.1813-5T=) n.2197-5T= | |
X | g.18608807C>A | CA2693222850 | CDKL5 | c.1945-4C>A (n.1945-4C>A) c.1894-4C>A (n.1894-4C>A) c.1813-4C>A (n.1813-4C>A) n.2197-4C>A | gnomAD v4 |
X | g.18608808C>A | CA2522862786 | CDKL5 | c.1945-3C>A (n.1945-3C>A) c.1894-3C>A (n.1894-3C>A) c.1813-3C>A (n.1813-3C>A) n.2197-3C>A | gnomAD v4 |
X | g.18608808C= | CA2417975813 | CDKL5 | c.1945-3C= (n.1945-3C=) c.1894-3C= (n.1894-3C=) c.1813-3C= (n.1813-3C=) n.2197-3C= | |
X | g.18608808C>T | CA873669163 | CDKL5 | c.1945-3C>T (n.1945-3C>T) c.1894-3C>T (n.1894-3C>T) c.1813-3C>T (n.1813-3C>T) n.2197-3C>T | dbSNP gnomAD v4 |
X | g.18608809A>C | CA412365703 | CDKL5 | c.1945-2A>C (n.1945-2A>C) c.1894-2A>C (n.1894-2A>C) c.1813-2A>C (n.1813-2A>C) n.2197-2A>C | |
X | g.18608809A>G | CA412365706 | CDKL5 | c.1945-2A>G (n.1945-2A>G) c.1894-2A>G (n.1894-2A>G) c.1813-2A>G (n.1813-2A>G) n.2197-2A>G | |
X | g.18608809A>T | CA412365708 | CDKL5 | c.1945-2A>T (n.1945-2A>T) c.1894-2A>T (n.1894-2A>T) c.1813-2A>T (n.1813-2A>T) n.2197-2A>T | |
X | g.18608810G>A | CA412365718 | CDKL5 | c.1945-1G>A (n.1945-1G>A) c.1894-1G>A (n.1894-1G>A) c.1813-1G>A (n.1813-1G>A) n.2197-1G>A | |
X | g.18608810G>C | CA412365715 | CDKL5 | c.1945-1G>C (n.1945-1G>C) c.1894-1G>C (n.1894-1G>C) c.1813-1G>C (n.1813-1G>C) n.2197-1G>C | |
X | g.18608810G= | CA2417975814 | CDKL5 | c.1945-1G= (n.1945-1G=) c.1894-1G= (n.1894-1G=) c.1813-1G= (n.1813-1G=) n.2197-1G= | |
X | g.18608810G>T | CA412365712 | CDKL5 | c.1945-1G>T (n.1945-1G>T) c.1894-1G>T (n.1894-1G>T) c.1813-1G>T (n.1813-1G>T) n.2197-1G>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.18608811C>A | CA412365721 | CDKL5 | c.1945C>A (p.Pro649Thr) c.1894C>A (p.Pro632Thr) c.1813C>A (p.Pro605Thr) n.2197C>A | gnomAD v4 |
X | g.18608811C>G | CA412365723 | CDKL5 | c.1945C>G (p.Pro649Ala) c.1894C>G (p.Pro632Ala) c.1813C>G (p.Pro605Ala) n.2197C>G | |
X | g.18608811C>T | CA412365725 | CDKL5 | c.1945C>T (p.Pro649Ser) c.1894C>T (p.Pro632Ser) c.1813C>T (p.Pro605Ser) n.2197C>T | |
X | g.18608812C>A | CA412365729 | CDKL5 | c.1946C>A (p.Pro649His) c.1895C>A (p.Pro632His) c.1814C>A (p.Pro605His) n.2198C>A | gnomAD v4 |
X | g.18608812C>G | CA412365732 | CDKL5 | c.1946C>G (p.Pro649Arg) c.1895C>G (p.Pro632Arg) c.1814C>G (p.Pro605Arg) n.2198C>G | gnomAD v4 |
X | g.18608812C>T | CA412365735 | CDKL5 | c.1946C>T (p.Pro649Leu) c.1895C>T (p.Pro632Leu) c.1814C>T (p.Pro605Leu) n.2198C>T | |
X | g.18608813T>A | CA515472187 | CDKL5 | c.1947T>A (p.Pro649=) c.1896T>A (p.Pro632=) c.1815T>A (p.Pro605=) n.2199T>A | |
X | g.18608813T>C | CA515472188 | CDKL5 | c.1947T>C (p.Pro649=) c.1896T>C (p.Pro632=) c.1815T>C (p.Pro605=) n.2199T>C | ClinVar dbSNP gnomAD v4 |
X | g.18608813T>G | CA515472189 | CDKL5 | c.1947T>G (p.Pro649=) c.1896T>G (p.Pro632=) c.1815T>G (p.Pro605=) n.2199T>G | |
X | g.18608814G>A | CA412365738 | CDKL5 | c.1948G>A (p.Gly650Arg) c.1897G>A (p.Gly633Arg) c.1816G>A (p.Gly606Arg) n.2200G>A | ClinVar dbSNP |
X | g.18608814G>C | CA412365741 | CDKL5 | c.1948G>C (p.Gly650Arg) c.1897G>C (p.Gly633Arg) c.1816G>C (p.Gly606Arg) n.2200G>C | |
X | g.18608814G= | CA2417975815 | CDKL5 | c.1948G= (p.Gly650=) c.1897G= (p.Gly633=) c.1816G= (p.Gly606=) n.2200G= | |
X | g.18608814G>T | CA412365744 | CDKL5 | c.1948G>T (p.Gly650Ter) c.1897G>T (p.Gly633Ter) c.1816G>T (p.Gly606Ter) n.2200G>T | |
X | g.18608815del | CA2693222851 | CDKL5 | c.1949del (p.Gly650GlufsTer8) c.1898del (p.Gly633GlufsTer8) c.1817del (p.Gly606GlufsTer8) n.2201del | gnomAD v4 |
X | g.18608815G>A | CA10360436 | CDKL5 | c.1949G>A (p.Gly650Glu) c.1898G>A (p.Gly633Glu) c.1817G>A (p.Gly606Glu) n.2201G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18608815G>C | CA412365749 | CDKL5 | c.1949G>C (p.Gly650Ala) c.1898G>C (p.Gly633Ala) c.1817G>C (p.Gly606Ala) n.2201G>C | |
X | g.18608815G= | CA2417975816 | CDKL5 | c.1949G= (p.Gly650=) c.1898G= (p.Gly633=) c.1817G= (p.Gly606=) n.2201G= | |
X | g.18608815G>T | CA412365751 | CDKL5 | c.1949G>T (p.Gly650Val) c.1898G>T (p.Gly633Val) c.1817G>T (p.Gly606Val) n.2201G>T | |
X | g.18608816A>C | CA515472192 | CDKL5 | c.1950A>C (p.Gly650=) c.1899A>C (p.Gly633=) c.1818A>C (p.Gly606=) n.2202A>C | |
X | g.18608816A>G | CA515472190 | CDKL5 | c.1950A>G (p.Gly650=) c.1899A>G (p.Gly633=) c.1818A>G (p.Gly606=) n.2202A>G | |
X | g.18608816A>T | CA515472191 | CDKL5 | c.1950A>T (p.Gly650=) c.1899A>T (p.Gly633=) c.1818A>T (p.Gly606=) n.2202A>T | |
X | g.18608817G>A | CA412365760 | CDKL5 | c.1951G>A (p.Glu651Lys) c.1900G>A (p.Glu634Lys) c.1819G>A (p.Glu607Lys) n.2203G>A | gnomAD v4 |
X | g.18608817G>C | CA412365757 | CDKL5 | c.1951G>C (p.Glu651Gln) c.1900G>C (p.Glu634Gln) c.1819G>C (p.Glu607Gln) n.2203G>C | |
X | g.18608817G>T | CA412365754 | CDKL5 | c.1951G>T (p.Glu651Ter) c.1900G>T (p.Glu634Ter) c.1819G>T (p.Glu607Ter) n.2203G>T | |
X | g.18608818A= | CA2417975817 | CDKL5 | c.1952A= (p.Glu651=) c.1901A= (p.Glu634=) c.1820A= (p.Glu607=) n.2204A= | |
X | g.18608818A>C | CA412365763 | CDKL5 | c.1952A>C (p.Glu651Ala) c.1901A>C (p.Glu634Ala) c.1820A>C (p.Glu607Ala) n.2204A>C | |
X | g.18608818A>G | CA326988779 | CDKL5 | c.1952A>G (p.Glu651Gly) c.1901A>G (p.Glu634Gly) c.1820A>G (p.Glu607Gly) n.2204A>G | dbSNP |
X | g.18608818A>T | CA412365765 | CDKL5 | c.1952A>T (p.Glu651Val) c.1901A>T (p.Glu634Val) c.1820A>T (p.Glu607Val) n.2204A>T | gnomAD v4 |
X | g.18608819A>C | CA412365770 | CDKL5 | c.1953A>C (p.Glu651Asp) c.1902A>C (p.Glu634Asp) c.1821A>C (p.Glu607Asp) n.2205A>C | |
X | g.18608819A>G | CA515472196 | CDKL5 | c.1953A>G (p.Glu651=) c.1902A>G (p.Glu634=) c.1821A>G (p.Glu607=) n.2205A>G | |
X | g.18608819A>T | CA412365771 | CDKL5 | c.1953A>T (p.Glu651Asp) c.1902A>T (p.Glu634Asp) c.1821A>T (p.Glu607Asp) n.2205A>T | |
X | g.18608820C>A | CA412365775 | CDKL5 | c.1954C>A (p.Gln652Lys) c.1903C>A (p.Gln635Lys) c.1822C>A (p.Gln608Lys) n.2206C>A | |
X | g.18608820C= | CA2417975818 | CDKL5 | c.1954C= (p.Gln652=) c.1903C= (p.Gln635=) c.1822C= (p.Gln608=) n.2206C= | |
X | g.18608820C>G | CA412365776 | CDKL5 | c.1954C>G (p.Gln652Glu) c.1903C>G (p.Gln635Glu) c.1822C>G (p.Gln608Glu) n.2206C>G | |
X | g.18608820C>T | CA171621 | CDKL5 | c.1954C>T (p.Gln652Ter) c.1903C>T (p.Gln635Ter) c.1822C>T (p.Gln608Ter) n.2206C>T | ClinVar dbSNP |
X | g.18608821A>C | CA412365784 | CDKL5 | c.1955A>C (p.Gln652Pro) c.1904A>C (p.Gln635Pro) c.1823A>C (p.Gln608Pro) n.2207A>C | |
X | g.18608821A>G | CA412365782 | CDKL5 | c.1955A>G (p.Gln652Arg) c.1904A>G (p.Gln635Arg) c.1823A>G (p.Gln608Arg) n.2207A>G | |
X | g.18608821A>T | CA412365780 | CDKL5 | c.1955A>T (p.Gln652Leu) c.1904A>T (p.Gln635Leu) c.1823A>T (p.Gln608Leu) n.2207A>T | |
X | g.18608822G>A | CA10360437 | CDKL5 | c.1956G>A (p.Gln652=) c.1905G>A (p.Gln635=) c.1824G>A (p.Gln608=) n.2208G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18608822G>C | CA412365788 | CDKL5 | c.1956G>C (p.Gln652His) c.1905G>C (p.Gln635His) c.1824G>C (p.Gln608His) n.2208G>C | |
X | g.18608822G= | CA2417975819 | CDKL5 | c.1956G= (p.Gln652=) c.1905G= (p.Gln635=) c.1824G= (p.Gln608=) n.2208G= | |
X | g.18608822G>T | CA412365791 | CDKL5 | c.1956G>T (p.Gln652His) c.1905G>T (p.Gln635His) c.1824G>T (p.Gln608His) n.2208G>T | |
X | g.18608823C>A | CA412365793 | CDKL5 | c.1957C>A (p.Leu653Ile) c.1906C>A (p.Leu636Ile) c.1825C>A (p.Leu609Ile) n.2209C>A | |
X | g.18608823C>G | CA412365795 | CDKL5 | c.1957C>G (p.Leu653Val) c.1906C>G (p.Leu636Val) c.1825C>G (p.Leu609Val) n.2209C>G | |
X | g.18608823C>T | CA412365798 | CDKL5 | c.1957C>T (p.Leu653Phe) c.1906C>T (p.Leu636Phe) c.1825C>T (p.Leu609Phe) n.2209C>T | |
X | g.18608824T>A | CA412365806 | CDKL5 | c.1958T>A (p.Leu653His) c.1907T>A (p.Leu636His) c.1826T>A (p.Leu609His) n.2210T>A | |
X | g.18608824T>C | CA412365801 | CDKL5 | c.1958T>C (p.Leu653Pro) c.1907T>C (p.Leu636Pro) c.1826T>C (p.Leu609Pro) n.2210T>C | |
X | g.18608824T>G | CA412365803 | CDKL5 | c.1958T>G (p.Leu653Arg) c.1907T>G (p.Leu636Arg) c.1826T>G (p.Leu609Arg) n.2210T>G | |
X | g.18608825C>A | CA515472200 | CDKL5 | c.1959C>A (p.Leu653=) c.1908C>A (p.Leu636=) c.1827C>A (p.Leu609=) n.2211C>A | |
X | g.18608825C>G | CA515472201 | CDKL5 | c.1959C>G (p.Leu653=) c.1908C>G (p.Leu636=) c.1827C>G (p.Leu609=) n.2211C>G | |
X | g.18608825C>T | CA515472202 | CDKL5 | c.1959C>T (p.Leu653=) c.1908C>T (p.Leu636=) c.1827C>T (p.Leu609=) n.2211C>T | gnomAD v4 |
X | g.18608827del | CA2819900552 | CDKL5 | c.1961del (p.Pro654LeufsTer4) c.1910del (p.Pro637LeufsTer4) c.1829del (p.Pro610LeufsTer4) n.2213del | |
X | g.18608826C>A | CA412365809 | CDKL5 | c.1960C>A (p.Pro654Thr) c.1909C>A (p.Pro637Thr) c.1828C>A (p.Pro610Thr) n.2212C>A | |
X | g.18608826C>G | CA412365811 | CDKL5 | c.1960C>G (p.Pro654Ala) c.1909C>G (p.Pro637Ala) c.1828C>G (p.Pro610Ala) n.2212C>G | |
X | g.18608826C>T | CA412365813 | CDKL5 | c.1960C>T (p.Pro654Ser) c.1909C>T (p.Pro637Ser) c.1828C>T (p.Pro610Ser) n.2212C>T | |
X | g.18608827C>A | CA412365827 | CDKL5 | c.1961C>A (p.Pro654His) c.1910C>A (p.Pro637His) c.1829C>A (p.Pro610His) n.2213C>A | |
X | g.18608827C= | CA2417975820 | CDKL5 | c.1961C= (p.Pro654=) c.1910C= (p.Pro637=) c.1829C= (p.Pro610=) n.2213C= | |
X | g.18608827C>G | CA412365830 | CDKL5 | c.1961C>G (p.Pro654Arg) c.1910C>G (p.Pro637Arg) c.1829C>G (p.Pro610Arg) n.2213C>G | |
X | g.18608827C>T | CA412365832 | CDKL5 | c.1961C>T (p.Pro654Leu) c.1910C>T (p.Pro637Leu) c.1829C>T (p.Pro610Leu) n.2213C>T | dbSNP gnomAD v4 |
X | g.18608828T>A | CA515472204 | CDKL5 | c.1962T>A (p.Pro654=) c.1911T>A (p.Pro637=) c.1830T>A (p.Pro610=) n.2214T>A | |
X | g.18608828T>C | CA515472206 | CDKL5 | c.1962T>C (p.Pro654=) c.1911T>C (p.Pro637=) c.1830T>C (p.Pro610=) n.2214T>C | gnomAD v4 |
X | g.18608828T>G | CA515472208 | CDKL5 | c.1962T>G (p.Pro654=) c.1911T>G (p.Pro637=) c.1830T>G (p.Pro610=) n.2214T>G | |
X | g.18608829C>A | CA412365834 | CDKL5 | c.1963C>A (p.Pro655Thr) c.1912C>A (p.Pro638Thr) c.1831C>A (p.Pro611Thr) n.2215C>A | |
X | g.18608829C= | CA2417975821 | CDKL5 | c.1963C= (p.Pro655=) c.1912C= (p.Pro638=) c.1831C= (p.Pro611=) n.2215C= | |
X | g.18608829C>G | CA412365838 | CDKL5 | c.1963C>G (p.Pro655Ala) c.1912C>G (p.Pro638Ala) c.1831C>G (p.Pro611Ala) n.2215C>G | dbSNP |
X | g.18608829C>T | CA412365840 | CDKL5 | c.1963C>T (p.Pro655Ser) c.1912C>T (p.Pro638Ser) c.1831C>T (p.Pro611Ser) n.2215C>T | COSMIC |
X | g.18608830del | CA2579562960 | CDKL5 | c.1964del (p.Pro655GlnfsTer3) c.1913del (p.Pro638GlnfsTer3) c.1832del (p.Pro611GlnfsTer3) n.2216del | |
X | g.18608830C>A | CA412365843 | CDKL5 | c.1964C>A (p.Pro655Gln) c.1913C>A (p.Pro638Gln) c.1832C>A (p.Pro611Gln) n.2216C>A | dbSNP |
X | g.18608830C>G | CA412365845 | CDKL5 | c.1964C>G (p.Pro655Arg) c.1913C>G (p.Pro638Arg) c.1832C>G (p.Pro611Arg) n.2216C>G | gnomAD v4 |
X | g.18608830C>T | CA412365848 | CDKL5 | c.1964C>T (p.Pro655Leu) c.1913C>T (p.Pro638Leu) c.1832C>T (p.Pro611Leu) n.2216C>T | |
X | g.18608831A>C | CA515472213 | CDKL5 | c.1965A>C (p.Pro655=) c.1914A>C (p.Pro638=) c.1833A>C (p.Pro611=) n.2217A>C | gnomAD v4 |
X | g.18608831A>G | CA515472214 | CDKL5 | c.1965A>G (p.Pro655=) c.1914A>G (p.Pro638=) c.1833A>G (p.Pro611=) n.2217A>G | |
X | g.18608831A>T | CA515472212 | CDKL5 | c.1965A>T (p.Pro655=) c.1914A>T (p.Pro638=) c.1833A>T (p.Pro611=) n.2217A>T | |
X | g.18608832G>A | CA412365851 | CDKL5 | c.1966G>A (p.Glu656Lys) c.1915G>A (p.Glu639Lys) c.1834G>A (p.Glu612Lys) n.2218G>A | |
X | g.18608832G>C | CA412365855 | CDKL5 | c.1966G>C (p.Glu656Gln) c.1915G>C (p.Glu639Gln) c.1834G>C (p.Glu612Gln) n.2218G>C | dbSNP gnomAD v2 gnomAD v4 |
X | g.18608832G= | CA2417975822 | CDKL5 | c.1966G= (p.Glu656=) c.1915G= (p.Glu639=) c.1834G= (p.Glu612=) n.2218G= | |
X | g.18608832G>T | CA412365852 | CDKL5 | c.1966G>T (p.Glu656Ter) c.1915G>T (p.Glu639Ter) c.1834G>T (p.Glu612Ter) n.2218G>T | |
X | g.18608833A>C | CA412365858 | CDKL5 | c.1967A>C (p.Glu656Ala) c.1916A>C (p.Glu639Ala) c.1835A>C (p.Glu612Ala) n.2219A>C | |
X | g.18608833A>G | CA412365859 | CDKL5 | c.1967A>G (p.Glu656Gly) c.1916A>G (p.Glu639Gly) c.1835A>G (p.Glu612Gly) n.2219A>G | |
X | g.18608833A>T | CA412365863 | CDKL5 | c.1967A>T (p.Glu656Val) c.1916A>T (p.Glu639Val) c.1835A>T (p.Glu612Val) n.2219A>T | |
X | g.18608834G>A | CA515472219 | CDKL5 | c.1968G>A (p.Glu656=) c.1917G>A (p.Glu639=) c.1836G>A (p.Glu612=) n.2220G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.18608834G>C | CA412365866 | CDKL5 | c.1968G>C (p.Glu656Asp) c.1917G>C (p.Glu639Asp) c.1836G>C (p.Glu612Asp) n.2220G>C | gnomAD v4 |
X | g.18608834G= | CA2417975823 | CDKL5 | c.1968G= (p.Glu656=) c.1917G= (p.Glu639=) c.1836G= (p.Glu612=) n.2220G= | |
X | g.18608834G>T | CA412365868 | CDKL5 | c.1968G>T (p.Glu656Asp) c.1917G>T (p.Glu639Asp) c.1836G>T (p.Glu612Asp) n.2220G>T | |
X | g.18608835A>C | CA412365872 | CDKL5 | c.1969A>C (p.Met657Leu) c.1918A>C (p.Met640Leu) c.1837A>C (p.Met613Leu) n.2221A>C | |
X | g.18608835A>G | CA412365875 | CDKL5 | c.1969A>G (p.Met657Val) c.1918A>G (p.Met640Val) c.1837A>G (p.Met613Val) n.2221A>G | gnomAD v4 |
X | g.18608835A>T | CA412365876 | CDKL5 | c.1969A>T (p.Met657Leu) c.1918A>T (p.Met640Leu) c.1837A>T (p.Met613Leu) n.2221A>T | |
X | g.18608836T>A | CA412365877 | CDKL5 | c.1970T>A (p.Met657Lys) c.1919T>A (p.Met640Lys) c.1838T>A (p.Met613Lys) n.2222T>A | |
X | g.18608836T>C | CA412365878 | CDKL5 | c.1970T>C (p.Met657Thr) c.1919T>C (p.Met640Thr) c.1838T>C (p.Met613Thr) n.2222T>C | |
X | g.18608836T>G | CA412365879 | CDKL5 | c.1970T>G (p.Met657Arg) c.1919T>G (p.Met640Arg) c.1838T>G (p.Met613Arg) n.2222T>G | |
X | g.18608837G>A | CA412365885 | CDKL5 | c.1971G>A (p.Met657Ile) c.1920G>A (p.Met640Ile) c.1839G>A (p.Met613Ile) n.2223G>A | gnomAD v4 |
X | g.18608837G>C | CA412365883 | CDKL5 | c.1971G>C (p.Met657Ile) c.1920G>C (p.Met640Ile) c.1839G>C (p.Met613Ile) n.2223G>C | |
X | g.18608837G>T | CA412365882 | CDKL5 | c.1971G>T (p.Met657Ile) c.1920G>T (p.Met640Ile) c.1839G>T (p.Met613Ile) n.2223G>T | |
X | g.18608838A>C | CA412365887 | CDKL5 | c.1972A>C (p.Thr658Pro) c.1921A>C (p.Thr641Pro) c.1840A>C (p.Thr614Pro) n.2224A>C | |
X | g.18608838A>G | CA412365888 | CDKL5 | c.1972A>G (p.Thr658Ala) c.1921A>G (p.Thr641Ala) c.1840A>G (p.Thr614Ala) n.2224A>G | |
X | g.18608838A>T | CA412365890 | CDKL5 | c.1972A>T (p.Thr658Ser) c.1921A>T (p.Thr641Ser) c.1840A>T (p.Thr614Ser) n.2224A>T | |
X | g.18608839C>A | CA412365892 | CDKL5 | c.1973C>A (p.Thr658Asn) c.1922C>A (p.Thr641Asn) c.1841C>A (p.Thr614Asn) n.2225C>A | |
X | g.18608839C>G | CA412365893 | CDKL5 | c.1973C>G (p.Thr658Ser) c.1922C>G (p.Thr641Ser) c.1841C>G (p.Thr614Ser) n.2225C>G | |
X | g.18608839C>T | CA412365895 | CDKL5 | c.1973C>T (p.Thr658Ile) c.1922C>T (p.Thr641Ile) c.1841C>T (p.Thr614Ile) n.2225C>T | |
X | g.18608840T>A | CA515472225 | CDKL5 | c.1974T>A (p.Thr658=) c.1923T>A (p.Thr641=) c.1842T>A (p.Thr614=) n.2226T>A | |
X | g.18608840T>C | CA515472227 | CDKL5 | c.1974T>C (p.Thr658=) c.1923T>C (p.Thr641=) c.1842T>C (p.Thr614=) n.2226T>C | |
X | g.18608840T>G | CA515472230 | CDKL5 | c.1974T>G (p.Thr658=) c.1923T>G (p.Thr641=) c.1842T>G (p.Thr614=) n.2226T>G | |
X | g.18608842_18608843del | CA2579562961 | CDKL5 | c.1976_1977del (p.Val659GlyfsTer23) c.1925_1926del (p.Val642GlyfsTer23) c.1844_1845del (p.Val615GlyfsTer23) n.2228_2229del | ClinVar dbSNP |
X | g.18608841G>A | CA412365897 | CDKL5 | c.1975G>A (p.Val659Met) c.1924G>A (p.Val642Met) c.1843G>A (p.Val615Met) n.2227G>A | |
X | g.18608841G>C | CA412365898 | CDKL5 | c.1975G>C (p.Val659Leu) c.1924G>C (p.Val642Leu) c.1843G>C (p.Val615Leu) n.2227G>C | |
X | g.18608841G>T | CA412365900 | CDKL5 | c.1975G>T (p.Val659Leu) c.1924G>T (p.Val642Leu) c.1843G>T (p.Val615Leu) n.2227G>T | |
X | g.18608842T>A | CA412365902 | CDKL5 | c.1976T>A (p.Val659Glu) c.1925T>A (p.Val642Glu) c.1844T>A (p.Val615Glu) n.2228T>A | |
X | g.18608842T>C | CA412365904 | CDKL5 | c.1976T>C (p.Val659Ala) c.1925T>C (p.Val642Ala) c.1844T>C (p.Val615Ala) n.2228T>C | |
X | g.18608842T>G | CA412365905 | CDKL5 | c.1976T>G (p.Val659Gly) c.1925T>G (p.Val642Gly) c.1844T>G (p.Val615Gly) n.2228T>G | |
X | g.18608843G>A | CA515472234 | CDKL5 | c.1977G>A (p.Val659=) c.1926G>A (p.Val642=) c.1845G>A (p.Val615=) n.2229G>A | gnomAD v4 |
X | g.18608843G>C | CA515472232 | CDKL5 | c.1977G>C (p.Val659=) c.1926G>C (p.Val642=) c.1845G>C (p.Val615=) n.2229G>C | |
X | g.18608843G>T | CA515472233 | CDKL5 | c.1977G>T (p.Val659=) c.1926G>T (p.Val642=) c.1845G>T (p.Val615=) n.2229G>T | |
X | g.18608844G>A | CA412365911 | CDKL5 | c.1978G>A (p.Ala660Thr) c.1927G>A (p.Ala643Thr) c.1846G>A (p.Ala616Thr) n.2230G>A | COSMIC |
X | g.18608844G>C | CA412365909 | CDKL5 | c.1978G>C (p.Ala660Pro) c.1927G>C (p.Ala643Pro) c.1846G>C (p.Ala616Pro) n.2230G>C | |
X | g.18608844G>T | CA412365907 | CDKL5 | c.1978G>T (p.Ala660Ser) c.1927G>T (p.Ala643Ser) c.1846G>T (p.Ala616Ser) n.2230G>T | |
X | g.18608845C>A | CA412365913 | CDKL5 | c.1979C>A (p.Ala660Glu) c.1928C>A (p.Ala643Glu) c.1847C>A (p.Ala616Glu) n.2231C>A | gnomAD v4 |
X | g.18608845C>G | CA412365917 | CDKL5 | c.1979C>G (p.Ala660Gly) c.1928C>G (p.Ala643Gly) c.1847C>G (p.Ala616Gly) n.2231C>G | |
X | g.18608845C>T | CA412365915 | CDKL5 | c.1979C>T (p.Ala660Val) c.1928C>T (p.Ala643Val) c.1847C>T (p.Ala616Val) n.2231C>T | |
X | g.18608846A>C | CA515472238 | CDKL5 | c.1980A>C (p.Ala660=) c.1929A>C (p.Ala643=) c.1848A>C (p.Ala616=) n.2232A>C | |
X | g.18608846A>G | CA515472239 | CDKL5 | c.1980A>G (p.Ala660=) c.1929A>G (p.Ala643=) c.1848A>G (p.Ala616=) n.2232A>G | ClinVar |
X | g.18608846A>T | CA515472241 | CDKL5 | c.1980A>T (p.Ala660=) c.1929A>T (p.Ala643=) c.1848A>T (p.Ala616=) n.2232A>T | |
X | g.18608847A>C | CA515472242 | CDKL5 | c.1981A>C (p.Arg661=) c.1930A>C (p.Arg644=) c.1849A>C (p.Arg617=) n.2233A>C | |
X | g.18608847A>G | CA412365919 | CDKL5 | c.1981A>G (p.Arg661Gly) c.1930A>G (p.Arg644Gly) c.1849A>G (p.Arg617Gly) n.2233A>G | |
X | g.18608847A>T | CA412365921 | CDKL5 | c.1981A>T (p.Arg661Ter) c.1930A>T (p.Arg644Ter) c.1849A>T (p.Arg617Ter) n.2233A>T | |
X | g.18608848G>A | CA412365924 | CDKL5 | c.1982G>A (p.Arg661Lys) c.1931G>A (p.Arg644Lys) c.1850G>A (p.Arg617Lys) n.2234G>A | |
X | g.18608848G>C | CA412365925 | CDKL5 | c.1982G>C (p.Arg661Thr) c.1931G>C (p.Arg644Thr) c.1850G>C (p.Arg617Thr) n.2234G>C | |
X | g.18608848G= | CA2417975824 | CDKL5 | c.1982G= (p.Arg661=) c.1931G= (p.Arg644=) c.1850G= (p.Arg617=) n.2234G= | |
X | g.18608848G>T | CA10360438 | CDKL5 | c.1982G>T (p.Arg661Ile) c.1931G>T (p.Arg644Ile) c.1850G>T (p.Arg617Ile) n.2234G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18608849A>C | CA412365929 | CDKL5 | c.1983A>C (p.Arg661Ser) c.1932A>C (p.Arg644Ser) c.1851A>C (p.Arg617Ser) n.2235A>C | |
X | g.18608849A>G | CA515472246 | CDKL5 | c.1983A>G (p.Arg661=) c.1932A>G (p.Arg644=) c.1851A>G (p.Arg617=) n.2235A>G | |
X | g.18608849A>T | CA412365930 | CDKL5 | c.1983A>T (p.Arg661Ser) c.1932A>T (p.Arg644Ser) c.1851A>T (p.Arg617Ser) n.2235A>T | |
X | g.18608850T>A | CA412365933 | CDKL5 | c.1984T>A (p.Ser662Thr) c.1933T>A (p.Ser645Thr) c.1852T>A (p.Ser618Thr) n.2236T>A | |
X | g.18608850T>C | CA10360439 | CDKL5 | c.1984T>C (p.Ser662Pro) c.1933T>C (p.Ser645Pro) c.1852T>C (p.Ser618Pro) n.2236T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18608850T>G | CA412365934 | CDKL5 | c.1984T>G (p.Ser662Ala) c.1933T>G (p.Ser645Ala) c.1852T>G (p.Ser618Ala) n.2236T>G | |
X | g.18608850T= | CA2417975825 | CDKL5 | c.1984T= (p.Ser662=) c.1933T= (p.Ser645=) c.1852T= (p.Ser618=) n.2236T= | |
X | g.18608851C>A | CA412365937 | CDKL5 | c.1985C>A (p.Ser662Tyr) c.1934C>A (p.Ser645Tyr) c.1853C>A (p.Ser618Tyr) n.2237C>A | |
X | g.18608851C>G | CA412365938 | CDKL5 | c.1985C>G (p.Ser662Cys) c.1934C>G (p.Ser645Cys) c.1853C>G (p.Ser618Cys) n.2237C>G | |
X | g.18608851C>T | CA412365940 | CDKL5 | c.1985C>T (p.Ser662Phe) c.1934C>T (p.Ser645Phe) c.1853C>T (p.Ser618Phe) n.2237C>T | COSMIC |
X | g.18608852T>A | CA515472250 | CDKL5 | c.1986T>A (p.Ser662=) c.1935T>A (p.Ser645=) c.1854T>A (p.Ser618=) n.2238T>A | |
X | g.18608852T>C | CA10360440 | CDKL5 | c.1986T>C (p.Ser662=) c.1935T>C (p.Ser645=) c.1854T>C (p.Ser618=) n.2238T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18608852T>G | CA515472251 | CDKL5 | c.1986T>G (p.Ser662=) c.1935T>G (p.Ser645=) c.1854T>G (p.Ser618=) n.2238T>G | |
X | g.18608852T= | CA2417975826 | CDKL5 | c.1986T= (p.Ser662=) c.1935T= (p.Ser645=) c.1854T= (p.Ser618=) n.2238T= | |
X | g.18608853T>A | CA412365943 | CDKL5 | c.1987T>A (p.Ser663Thr) c.1936T>A (p.Ser646Thr) c.1855T>A (p.Ser619Thr) n.2239T>A | |
X | g.18608853T>C | CA412365944 | CDKL5 | c.1987T>C (p.Ser663Pro) c.1936T>C (p.Ser646Pro) c.1855T>C (p.Ser619Pro) n.2239T>C | |
X | g.18608853T>G | CA412365945 | CDKL5 | c.1987T>G (p.Ser663Ala) c.1936T>G (p.Ser646Ala) c.1855T>G (p.Ser619Ala) n.2239T>G | |
X | g.18608854C>A | CA412365947 | CDKL5 | c.1988C>A (p.Ser663Ter) c.1937C>A (p.Ser646Ter) c.1856C>A (p.Ser619Ter) n.2240C>A | |
X | g.18608854C= | CA2417975827 | CDKL5 | c.1988C= (p.Ser663=) c.1937C= (p.Ser646=) c.1856C= (p.Ser619=) n.2240C= | |
X | g.18608854C>G | CA412365948 | CDKL5 | c.1988C>G (p.Ser663Trp) c.1937C>G (p.Ser646Trp) c.1856C>G (p.Ser619Trp) n.2240C>G | |
X | g.18608854C>T | CA412365949 | CDKL5 | c.1988C>T (p.Ser663Leu) c.1937C>T (p.Ser646Leu) c.1856C>T (p.Ser619Leu) n.2240C>T | dbSNP gnomAD v4 COSMIC |
X | g.18608855G>A | CA515472256 | CDKL5 | c.1989G>A (p.Ser663=) c.1938G>A (p.Ser646=) c.1857G>A (p.Ser619=) n.2241G>A | ClinVar dbSNP gnomAD v4 |
X | g.18608855G>C | CA515472259 | CDKL5 | c.1989G>C (p.Ser663=) c.1938G>C (p.Ser646=) c.1857G>C (p.Ser619=) n.2241G>C | |
X | g.18608855G= | CA2417975828 | CDKL5 | c.1989G= (p.Ser663=) c.1938G= (p.Ser646=) c.1857G= (p.Ser619=) n.2241G= | |
X | g.18608855G>T | CA515472261 | CDKL5 | c.1989G>T (p.Ser663=) c.1938G>T (p.Ser646=) c.1857G>T (p.Ser619=) n.2241G>T | |
X | g.18608856G>A | CA412365951 | CDKL5 | c.1990G>A (p.Val664Ile) c.1939G>A (p.Val647Ile) c.1858G>A (p.Val620Ile) n.2242G>A | |
X | g.18608856G>C | CA412365952 | CDKL5 | c.1990G>C (p.Val664Leu) c.1939G>C (p.Val647Leu) c.1858G>C (p.Val620Leu) n.2242G>C | |
X | g.18608856G>T | CA412365954 | CDKL5 | c.1990G>T (p.Val664Phe) c.1939G>T (p.Val647Phe) c.1858G>T (p.Val620Phe) n.2242G>T | |
X | g.18608857T>A | CA412365956 | CDKL5 | c.1991T>A (p.Val664Asp) c.1940T>A (p.Val647Asp) c.1859T>A (p.Val620Asp) n.2243T>A | |
X | g.18608857T>C | CA412365958 | CDKL5 | c.1991T>C (p.Val664Ala) c.1940T>C (p.Val647Ala) c.1859T>C (p.Val620Ala) n.2243T>C | |
X | g.18608857T>G | CA412365960 | CDKL5 | c.1991T>G (p.Val664Gly) c.1940T>G (p.Val647Gly) c.1859T>G (p.Val620Gly) n.2243T>G | |
X | g.18608858C>A | CA515472272 | CDKL5 | c.1992C>A (p.Val664=) c.1941C>A (p.Val647=) c.1860C>A (p.Val620=) n.2244C>A | gnomAD v4 |
X | g.18608858C>G | CA515472269 | CDKL5 | c.1992C>G (p.Val664=) c.1941C>G (p.Val647=) c.1860C>G (p.Val620=) n.2244C>G | |
X | g.18608858C>T | CA515472271 | CDKL5 | c.1992C>T (p.Val664=) c.1941C>T (p.Val647=) c.1860C>T (p.Val620=) n.2244C>T | |
X | g.18608859A>C | CA412365964 | CDKL5 | c.1993A>C (p.Lys665Gln) c.1942A>C (p.Lys648Gln) c.1861A>C (p.Lys621Gln) n.2245A>C | |
X | g.18608859A>G | CA412365963 | CDKL5 | c.1993A>G (p.Lys665Glu) c.1942A>G (p.Lys648Glu) c.1861A>G (p.Lys621Glu) n.2245A>G | |
X | g.18608859A>T | CA412365962 | CDKL5 | c.1993A>T (p.Lys665Ter) c.1942A>T (p.Lys648Ter) c.1861A>T (p.Lys621Ter) n.2245A>T | |
X | g.18608861dup | CA2840229162 | CDKL5 | c.1995dup (p.Glu666ArgfsTer17) c.1944dup (p.Glu649ArgfsTer17) c.1863dup (p.Glu622ArgfsTer17) n.2247dup | |
X | g.18608860_18608861del | CA2580100492 | CDKL5 | c.1994_1995del (p.Lys665ArgfsTer17) c.1943_1944del (p.Lys648ArgfsTer17) c.1862_1863del (p.Lys621ArgfsTer17) n.2246_2247del | ClinVar |
X | g.18608860_18608863del | CA2582342895 | CDKL5 | c.1994_1997del (p.Lys665ArgfsTer?) c.1943_1946del (p.Lys648ArgfsTer?) c.1862_1865del (p.Lys621ArgfsTer?) n.2246_2249del | ClinVar |
X | g.18608860A>C | CA412365965 | CDKL5 | c.1994A>C (p.Lys665Thr) c.1943A>C (p.Lys648Thr) c.1862A>C (p.Lys621Thr) n.2246A>C | |
X | g.18608860A>G | CA412365966 | CDKL5 | c.1994A>G (p.Lys665Arg) c.1943A>G (p.Lys648Arg) c.1862A>G (p.Lys621Arg) n.2246A>G | |
X | g.18608860A>T | CA412365967 | CDKL5 | c.1994A>T (p.Lys665Ile) c.1943A>T (p.Lys648Ile) c.1862A>T (p.Lys621Ile) n.2246A>T | |
X | g.18608861A= | CA2417975829 | CDKL5 | c.1995A= (p.Lys665=) c.1944A= (p.Lys648=) c.1863A= (p.Lys621=) n.2247A= | |
X | g.18608861A>C | CA412365969 | CDKL5 | c.1995A>C (p.Lys665Asn) c.1944A>C (p.Lys648Asn) c.1863A>C (p.Lys621Asn) n.2247A>C | |
X | g.18608861A>G | CA515472274 | CDKL5 | c.1995A>G (p.Lys665=) c.1944A>G (p.Lys648=) c.1863A>G (p.Lys621=) n.2247A>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.18608861A>T | CA412365970 | CDKL5 | c.1995A>T (p.Lys665Asn) c.1944A>T (p.Lys648Asn) c.1863A>T (p.Lys621Asn) n.2247A>T | |
X | g.18608862G>A | CA412365972 | CDKL5 | c.1996G>A (p.Glu666Lys) c.1945G>A (p.Glu649Lys) c.1864G>A (p.Glu622Lys) n.2248G>A | |
X | g.18608862G>C | CA412365974 | CDKL5 | c.1996G>C (p.Glu666Gln) c.1945G>C (p.Glu649Gln) c.1864G>C (p.Glu622Gln) n.2248G>C | COSMIC |
X | g.18608862G>T | CA412365976 | CDKL5 | c.1996G>T (p.Glu666Ter) c.1945G>T (p.Glu649Ter) c.1864G>T (p.Glu622Ter) n.2248G>T | |
X | g.18608863A>C | CA412365977 | CDKL5 | c.1997A>C (p.Glu666Ala) c.1946A>C (p.Glu649Ala) c.1865A>C (p.Glu622Ala) n.2249A>C | gnomAD v4 |
X | g.18608863A>G | CA412365978 | CDKL5 | c.1997A>G (p.Glu666Gly) c.1946A>G (p.Glu649Gly) c.1865A>G (p.Glu622Gly) n.2249A>G | |
X | g.18608863A>T | CA412365980 | CDKL5 | c.1997A>T (p.Glu666Val) c.1946A>T (p.Glu649Val) c.1865A>T (p.Glu622Val) n.2249A>T | |
X | g.18608864G>A | CA515472275 | CDKL5 | c.1998G>A (p.Glu666=) c.1947G>A (p.Glu649=) c.1866G>A (p.Glu622=) n.2250G>A | |
X | g.18608864G>C | CA412365982 | CDKL5 | c.1998G>C (p.Glu666Asp) c.1947G>C (p.Glu649Asp) c.1866G>C (p.Glu622Asp) n.2250G>C | |
X | g.18608864G>T | CA412365983 | CDKL5 | c.1998G>T (p.Glu666Asp) c.1947G>T (p.Glu649Asp) c.1866G>T (p.Glu622Asp) n.2250G>T | |
X | g.18608865A>C | CA412365988 | CDKL5 | c.1999A>C (p.Thr667Pro) c.1948A>C (p.Thr650Pro) c.1867A>C (p.Thr623Pro) n.2251A>C | |
X | g.18608865A>G | CA412365985 | CDKL5 | c.1999A>G (p.Thr667Ala) c.1948A>G (p.Thr650Ala) c.1867A>G (p.Thr623Ala) n.2251A>G | |
X | g.18608865A>T | CA412365987 | CDKL5 | c.1999A>T (p.Thr667Ser) c.1948A>T (p.Thr650Ser) c.1867A>T (p.Thr623Ser) n.2251A>T | |
X | g.18608866C>A | CA412365990 | CDKL5 | c.2000C>A (p.Thr667Asn) c.1949C>A (p.Thr650Asn) c.1868C>A (p.Thr623Asn) n.2252C>A | |
X | g.18608866C>G | CA412365992 | CDKL5 | c.2000C>G (p.Thr667Ser) c.1949C>G (p.Thr650Ser) c.1868C>G (p.Thr623Ser) n.2252C>G | |
X | g.18608866C>T | CA412365994 | CDKL5 | c.2000C>T (p.Thr667Ile) c.1949C>T (p.Thr650Ile) c.1868C>T (p.Thr623Ile) n.2252C>T | |
X | g.18608867C>A | CA515472276 | CDKL5 | c.2001C>A (p.Thr667=) c.1950C>A (p.Thr650=) c.1869C>A (p.Thr623=) n.2253C>A | |
X | g.18608867C>G | CA515472277 | CDKL5 | c.2001C>G (p.Thr667=) c.1950C>G (p.Thr650=) c.1869C>G (p.Thr623=) n.2253C>G | |
X | g.18608867C>T | CA515472279 | CDKL5 | c.2001C>T (p.Thr667=) c.1950C>T (p.Thr650=) c.1869C>T (p.Thr623=) n.2253C>T | |
X | g.18608868T>A | CA412365995 | CDKL5 | c.2002T>A (p.Ser668Thr) c.1951T>A (p.Ser651Thr) c.1870T>A (p.Ser624Thr) n.2254T>A | |
X | g.18608868T>C | CA412365996 | CDKL5 | c.2002T>C (p.Ser668Pro) c.1951T>C (p.Ser651Pro) c.1870T>C (p.Ser624Pro) n.2254T>C | |
X | g.18608868T>G | CA412365999 | CDKL5 | c.2002T>G (p.Ser668Ala) c.1951T>G (p.Ser651Ala) c.1870T>G (p.Ser624Ala) n.2254T>G | |
X | g.18608869C>A | CA412366001 | CDKL5 | c.2003C>A (p.Ser668Tyr) c.1952C>A (p.Ser651Tyr) c.1871C>A (p.Ser624Tyr) n.2255C>A | |
X | g.18608869C>G | CA412366002 | CDKL5 | c.2003C>G (p.Ser668Cys) c.1952C>G (p.Ser651Cys) c.1871C>G (p.Ser624Cys) n.2255C>G | |
X | g.18608869C>T | CA412366004 | CDKL5 | c.2003C>T (p.Ser668Phe) c.1952C>T (p.Ser651Phe) c.1871C>T (p.Ser624Phe) n.2255C>T | |
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.18608870C>A | CA515472282 | CDKL5 | c.2004C>A (p.Ser668=) c.1953C>A (p.Ser651=) c.1872C>A (p.Ser624=) n.2256C>A | |
X | g.18608870C>G | CA515472283 | CDKL5 | c.2004C>G (p.Ser668=) c.1953C>G (p.Ser651=) c.1872C>G (p.Ser624=) n.2256C>G | |
X | g.18608870C>T | CA515472284 | CDKL5 | c.2004C>T (p.Ser668=) c.1953C>T (p.Ser651=) c.1872C>T (p.Ser624=) n.2256C>T | |
X | g.18608871A>C | CA515472286 | CDKL5 | c.2005A>C (p.Arg669=) c.1954A>C (p.Arg652=) c.1873A>C (p.Arg625=) n.2257A>C | |
X | g.18608871A>G | CA412366007 | CDKL5 | c.2005A>G (p.Arg669Gly) c.1954A>G (p.Arg652Gly) c.1873A>G (p.Arg625Gly) n.2257A>G | |
X | g.18608871A>T | CA412366008 | CDKL5 | c.2005A>T (p.Arg669Ter) c.1954A>T (p.Arg652Ter) c.1873A>T (p.Arg625Ter) n.2257A>T | |
X | g.18608872G>A | CA412366014 | CDKL5 | c.2006G>A (p.Arg669Lys) c.1955G>A (p.Arg652Lys) c.1874G>A (p.Arg625Lys) n.2258G>A | COSMIC |
X | g.18608872G>C | CA412366012 | CDKL5 | c.2006G>C (p.Arg669Thr) c.1955G>C (p.Arg652Thr) c.1874G>C (p.Arg625Thr) n.2258G>C | |
X | g.18608872G>T | CA412366010 | CDKL5 | c.2006G>T (p.Arg669Ile) c.1955G>T (p.Arg652Ile) c.1874G>T (p.Arg625Ile) n.2258G>T | |
X | g.18608873A>C | CA412366016 | CDKL5 | c.2007A>C (p.Arg669Ser) c.1956A>C (p.Arg652Ser) c.1875A>C (p.Arg625Ser) n.2259A>C | |
X | g.18608873A>G | CA515472287 | CDKL5 | c.2007A>G (p.Arg669=) c.1956A>G (p.Arg652=) c.1875A>G (p.Arg625=) n.2259A>G | |
X | g.18608873A>T | CA412366018 | CDKL5 | c.2007A>T (p.Arg669Ser) c.1956A>T (p.Arg652Ser) c.1875A>T (p.Arg625Ser) n.2259A>T | |
X | g.18608874G>A | CA412366019 | CDKL5 | c.2008G>A (p.Glu670Lys) c.1957G>A (p.Glu653Lys) c.1876G>A (p.Glu626Lys) n.2260G>A | |
X | g.18608874G>C | CA412366021 | CDKL5 | c.2008G>C (p.Glu670Gln) c.1957G>C (p.Glu653Gln) c.1876G>C (p.Glu626Gln) n.2260G>C | |
X | g.18608874G>T | CA412366022 | CDKL5 | c.2008G>T (p.Glu670Ter) c.1957G>T (p.Glu653Ter) c.1876G>T (p.Glu626Ter) n.2260G>T | |
X | g.18608875_18608878dup | CA2580100493 | CDKL5 | c.2009_2012dup (p.Thr672ArgfsTer12) c.1958_1961dup (p.Thr655ArgfsTer12) c.1877_1880dup (p.Thr628ArgfsTer12) n.2261_2264dup | ClinVar |
X | g.18608875A>C | CA412366024 | CDKL5 | c.2009A>C (p.Glu670Ala) c.1958A>C (p.Glu653Ala) c.1877A>C (p.Glu626Ala) n.2261A>C | |
X | g.18608875A>G | CA412366025 | CDKL5 | c.2009A>G (p.Glu670Gly) c.1958A>G (p.Glu653Gly) c.1877A>G (p.Glu626Gly) n.2261A>G | |
X | g.18608875A>T | CA412366028 | CDKL5 | c.2009A>T (p.Glu670Val) c.1958A>T (p.Glu653Val) c.1877A>T (p.Glu626Val) n.2261A>T | |
X | g.18608876A>C | CA412366031 | CDKL5 | c.2010A>C (p.Glu670Asp) c.1959A>C (p.Glu653Asp) c.1878A>C (p.Glu626Asp) n.2262A>C | |
X | g.18608876A>G | CA515472289 | CDKL5 | c.2010A>G (p.Glu670=) c.1959A>G (p.Glu653=) c.1878A>G (p.Glu626=) n.2262A>G | gnomAD v4 |
X | g.18608876A>T | CA412366030 | CDKL5 | c.2010A>T (p.Glu670Asp) c.1959A>T (p.Glu653Asp) c.1878A>T (p.Glu626Asp) n.2262A>T | |
X | g.18608877G>A | CA412366033 | CDKL5 | c.2011G>A (p.Gly671Ser) c.1960G>A (p.Gly654Ser) c.1879G>A (p.Gly627Ser) n.2263G>A | dbSNP |
X | g.18608877G>C | CA412366035 | CDKL5 | c.2011G>C (p.Gly671Arg) c.1960G>C (p.Gly654Arg) c.1879G>C (p.Gly627Arg) n.2263G>C | |
X | g.18608877G= | CA2417975830 | CDKL5 | c.2011G= (p.Gly671=) c.1960G= (p.Gly654=) c.1879G= (p.Gly627=) n.2263G= | |
X | g.18608877G>T | CA412366037 | CDKL5 | c.2011G>T (p.Gly671Cys) c.1960G>T (p.Gly654Cys) c.1879G>T (p.Gly627Cys) n.2263G>T | |
X | g.18608878G>A | CA412366038 | CDKL5 | c.2012G>A (p.Gly671Asp) c.1961G>A (p.Gly654Asp) c.1880G>A (p.Gly627Asp) n.2264G>A | |
X | g.18608878G>C | CA412366040 | CDKL5 | c.2012G>C (p.Gly671Ala) c.1961G>C (p.Gly654Ala) c.1880G>C (p.Gly627Ala) n.2264G>C | |
X | g.18608878G>T | CA412366042 | CDKL5 | c.2012G>T (p.Gly671Val) c.1961G>T (p.Gly654Val) c.1880G>T (p.Gly627Val) n.2264G>T | |
X | g.18608879C>A | CA515472297 | CDKL5 | c.2013C>A (p.Gly671=) c.1962C>A (p.Gly654=) c.1881C>A (p.Gly627=) n.2265C>A | |
X | g.18608879C= | CA2417975831 | CDKL5 | c.2013C= (p.Gly671=) c.1962C= (p.Gly654=) c.1881C= (p.Gly627=) n.2265C= | |
X | g.18608879C>G | CA515472300 | CDKL5 | c.2013C>G (p.Gly671=) c.1962C>G (p.Gly654=) c.1881C>G (p.Gly627=) n.2265C>G | |
X | g.18608879C>T | CA515472296 | CDKL5 | c.2013C>T (p.Gly671=) c.1962C>T (p.Gly654=) c.1881C>T (p.Gly627=) n.2265C>T | ClinVar dbSNP |
X | g.18608880A= | CA2417975833 | CDKL5 | c.2014A= (p.Thr672=) c.1963A= (p.Thr655=) c.1882A= (p.Thr628=) n.2266A= | |
X | g.18608880A>C | CA412366048 | CDKL5 | c.2014A>C (p.Thr672Pro) c.1963A>C (p.Thr655Pro) c.1882A>C (p.Thr628Pro) n.2266A>C | |
X | g.18608880A>G | CA412366044 | CDKL5 | c.2014A>G (p.Thr672Ala) c.1963A>G (p.Thr655Ala) c.1882A>G (p.Thr628Ala) n.2266A>G | |
X | g.18608880A>T | CA412366046 | CDKL5 | c.2014A>T (p.Thr672Ser) c.1963A>T (p.Thr655Ser) c.1882A>T (p.Thr628Ser) n.2266A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
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.18608893_18608894insCC | CA2819900561 | CDKL5 | c.2027_2028insCC (p.Thr677LeufsTer?) c.1976_1977insCC (p.Thr660LeufsTer?) c.1895_1896insCC (p.Thr633LeufsTer?) n.2279_2280insCC | |
X | g.18608894T>A | CA412366104 | CDKL5 | c.2028T>A (p.His676Gln) c.1977T>A (p.His659Gln) c.1896T>A (p.His632Gln) n.2280T>A | |
X | g.18608894T>C | CA515472348 | CDKL5 | c.2028T>C (p.His676=) c.1977T>C (p.His659=) c.1896T>C (p.His632=) n.2280T>C | gnomAD v4 |
X | g.18608894T>G | CA412366105 | CDKL5 | c.2028T>G (p.His676Gln) c.1977T>G (p.His659Gln) c.1896T>G (p.His632Gln) n.2280T>G | |
X | g.18608895A>C | CA412366108 | CDKL5 | c.2029A>C (p.Thr677Pro) c.1978A>C (p.Thr660Pro) c.1897A>C (p.Thr633Pro) n.2281A>C | |
X | g.18608895A>G | CA412366109 | CDKL5 | c.2029A>G (p.Thr677Ala) c.1978A>G (p.Thr660Ala) c.1897A>G (p.Thr633Ala) n.2281A>G | |
X | g.18608895A>T | CA412366111 | CDKL5 | c.2029A>T (p.Thr677Ser) c.1978A>T (p.Thr660Ser) c.1897A>T (p.Thr633Ser) n.2281A>T | |
X | g.18608896C>A | CA412366114 | CDKL5 | c.2030C>A (p.Thr677Lys) c.1979C>A (p.Thr660Lys) c.1898C>A (p.Thr633Lys) n.2282C>A | gnomAD v4 |
X | g.18608896C>G | CA412366115 | CDKL5 | c.2030C>G (p.Thr677Arg) c.1979C>G (p.Thr660Arg) c.1898C>G (p.Thr633Arg) n.2282C>G | |
X | g.18608896C>T | CA412366117 | CDKL5 | c.2030C>T (p.Thr677Ile) c.1979C>T (p.Thr660Ile) c.1898C>T (p.Thr633Ile) n.2282C>T | |
X | g.18608897A= | CA2417975837 | CDKL5 | c.2031A= (p.Thr677=) c.1980A= (p.Thr660=) c.1899A= (p.Thr633=) n.2283A= | |
X | g.18608897A>C | CA515472355 | CDKL5 | c.2031A>C (p.Thr677=) c.1980A>C (p.Thr660=) c.1899A>C (p.Thr633=) n.2283A>C | |
X | g.18608897A>G | CA515472357 | CDKL5 | c.2031A>G (p.Thr677=) c.1980A>G (p.Thr660=) c.1899A>G (p.Thr633=) n.2283A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.18608897A>T | CA515472359 | CDKL5 | c.2031A>T (p.Thr677=) c.1980A>T (p.Thr660=) c.1899A>T (p.Thr633=) n.2283A>T | |
X | g.18608898del | CA2695231342 | CDKL5 | c.2032del (p.Arg678AlafsTer?) c.1981del (p.Arg661AlafsTer?) c.1900del (p.Arg634AlafsTer?) n.2284del | |
X | g.18608898C>A | CA412366118 | CDKL5 | c.2032C>A (p.Arg678Ser) c.1981C>A (p.Arg661Ser) c.1900C>A (p.Arg634Ser) n.2284C>A | gnomAD v4 |
X | g.18608898C= | CA2417975838 | CDKL5 | c.2032C= (p.Arg678=) c.1981C= (p.Arg661=) c.1900C= (p.Arg634=) n.2284C= | |
X | g.18608898C>G | CA412366121 | CDKL5 | c.2032C>G (p.Arg678Gly) c.1981C>G (p.Arg661Gly) c.1900C>G (p.Arg634Gly) n.2284C>G | |
X | g.18608898C>T | CA10360442 | CDKL5 | c.2032C>T (p.Arg678Cys) c.1981C>T (p.Arg661Cys) c.1900C>T (p.Arg634Cys) n.2284C>T | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
X | g.18608899G>A | CA412366123 | CDKL5 | c.2033G>A (p.Arg678His) c.1982G>A (p.Arg661His) c.1901G>A (p.Arg634His) n.2285G>A | dbSNP gnomAD v3 gnomAD v4 |
X | g.18608899G>C | CA412366125 | CDKL5 | c.2033G>C (p.Arg678Pro) c.1982G>C (p.Arg661Pro) c.1901G>C (p.Arg634Pro) n.2285G>C | |
X | g.18608899G= | CA2417975839 | CDKL5 | c.2033G= (p.Arg678=) c.1982G= (p.Arg661=) c.1901G= (p.Arg634=) n.2285G= | |
X | g.18608899G>T | CA412366127 | CDKL5 | c.2033G>T (p.Arg678Leu) c.1982G>T (p.Arg661Leu) c.1901G>T (p.Arg634Leu) n.2285G>T | |
X | g.18608900C>A | CA515472368 | CDKL5 | c.2034C>A (p.Arg678=) c.1983C>A (p.Arg661=) c.1902C>A (p.Arg634=) n.2286C>A | gnomAD v4 |
X | g.18608900C>G | CA515472370 | CDKL5 | c.2034C>G (p.Arg678=) c.1983C>G (p.Arg661=) c.1902C>G (p.Arg634=) n.2286C>G | |
X | g.18608900C>T | CA515472371 | CDKL5 | c.2034C>T (p.Arg678=) c.1983C>T (p.Arg661=) c.1902C>T (p.Arg634=) n.2286C>T | gnomAD v4 |
X | g.18608901del | CA2579562962 | CDKL5 | c.2035del (p.Gln679ArgfsTer?) c.1984del (p.Gln662ArgfsTer?) c.1903del (p.Gln635ArgfsTer?) n.2287del | gnomAD v4 |