Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.18604736C>A | CA515628021 | CDKL5 | c.1812C>A (p.Ser604=) c.1761C>A (p.Ser587=) c.1680C>A (p.Ser560=) n.2064C>A | |
X | g.18604736C>G | CA515628023 | CDKL5 | c.1812C>G (p.Ser604=) c.1761C>G (p.Ser587=) c.1680C>G (p.Ser560=) n.2064C>G | |
X | g.18604736C>T | CA515628022 | CDKL5 | c.1812C>T (p.Ser604=) c.1761C>T (p.Ser587=) c.1680C>T (p.Ser560=) n.2064C>T | |
X | g.18604737C>A | CA412362907 | CDKL5 | c.1813C>A (p.Gln605Lys) c.1762C>A (p.Gln588Lys) c.1681C>A (p.Gln561Lys) n.2065C>A | |
X | g.18604737C= | CA2417974505 | CDKL5 | c.1813C= (p.Gln605=) c.1762C= (p.Gln588=) c.1681C= (p.Gln561=) n.2065C= | |
X | g.18604737C>G | CA412362910 | CDKL5 | c.1813C>G (p.Gln605Glu) c.1762C>G (p.Gln588Glu) c.1681C>G (p.Gln561Glu) n.2065C>G | |
X | g.18604737C>T | CA412362914 | CDKL5 | c.1813C>T (p.Gln605Ter) c.1762C>T (p.Gln588Ter) c.1681C>T (p.Gln561Ter) n.2065C>T | ClinVar dbSNP |
X | g.18604738A>C | CA412362923 | CDKL5 | c.1814A>C (p.Gln605Pro) c.1763A>C (p.Gln588Pro) c.1682A>C (p.Gln561Pro) n.2066A>C | |
X | g.18604738A>G | CA412362917 | CDKL5 | c.1814A>G (p.Gln605Arg) c.1763A>G (p.Gln588Arg) c.1682A>G (p.Gln561Arg) n.2066A>G | |
X | g.18604738A>T | CA412362920 | CDKL5 | c.1814A>T (p.Gln605Leu) c.1763A>T (p.Gln588Leu) c.1682A>T (p.Gln561Leu) n.2066A>T | |
X | g.18604739G>A | CA515628024 | CDKL5 | c.1815G>A (p.Gln605=) c.1764G>A (p.Gln588=) c.1683G>A (p.Gln561=) n.2067G>A | ClinVar |
X | g.18604739G>C | CA412362927 | CDKL5 | c.1815G>C (p.Gln605His) c.1764G>C (p.Gln588His) c.1683G>C (p.Gln561His) n.2067G>C | |
X | g.18604739G>T | CA412362929 | CDKL5 | c.1815G>T (p.Gln605His) c.1764G>T (p.Gln588His) c.1683G>T (p.Gln561His) n.2067G>T | |
X | g.18604740C>A | CA412362934 | CDKL5 | c.1816C>A (p.Gln606Lys) c.1765C>A (p.Gln589Lys) c.1684C>A (p.Gln562Lys) n.2068C>A | |
X | g.18604740C= | CA2417974506 | CDKL5 | c.1816C= (p.Gln606=) c.1765C= (p.Gln589=) c.1684C= (p.Gln562=) n.2068C= | |
X | g.18604740C>G | CA412362936 | CDKL5 | c.1816C>G (p.Gln606Glu) c.1765C>G (p.Gln589Glu) c.1684C>G (p.Gln562Glu) n.2068C>G | |
X | g.18604740C>T | CA412362939 | CDKL5 | c.1816C>T (p.Gln606Ter) c.1765C>T (p.Gln589Ter) c.1684C>T (p.Gln562Ter) n.2068C>T | ClinVar dbSNP |
X | g.18604741A= | CA2417974507 | CDKL5 | c.1817A= (p.Gln606=) c.1766A= (p.Gln589=) c.1685A= (p.Gln562=) n.2069A= | |
X | g.18604741A>C | CA412362942 | CDKL5 | c.1817A>C (p.Gln606Pro) c.1766A>C (p.Gln589Pro) c.1685A>C (p.Gln562Pro) n.2069A>C | |
X | g.18604741A>G | CA10360423 | CDKL5 | c.1817A>G (p.Gln606Arg) c.1766A>G (p.Gln589Arg) c.1685A>G (p.Gln562Arg) n.2069A>G | dbSNP ExAC gnomAD v2 |
X | g.18604741A>T | CA412362947 | CDKL5 | c.1817A>T (p.Gln606Leu) c.1766A>T (p.Gln589Leu) c.1685A>T (p.Gln562Leu) n.2069A>T | |
X | g.18604742A= | CA2417974508 | CDKL5 | c.1818A= (p.Gln606=) c.1767A= (p.Gln589=) c.1686A= (p.Gln562=) n.2070A= | |
X | g.18604742A>C | CA412362949 | CDKL5 | c.1818A>C (p.Gln606His) c.1767A>C (p.Gln589His) c.1686A>C (p.Gln562His) n.2070A>C | |
X | g.18604742A>G | CA294757 | CDKL5 | c.1818A>G (p.Gln606=) c.1767A>G (p.Gln589=) c.1686A>G (p.Gln562=) n.2070A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604742A>T | CA412362959 | CDKL5 | c.1818A>T (p.Gln606His) c.1767A>T (p.Gln589His) c.1686A>T (p.Gln562His) n.2070A>T | |
X | g.18604743C>A | CA412362967 | CDKL5 | c.1819C>A (p.Arg607Ser) c.1768C>A (p.Arg590Ser) c.1687C>A (p.Arg563Ser) n.2071C>A | |
X | g.18604743C= | CA2417974509 | CDKL5 | c.1819C= (p.Arg607=) c.1768C= (p.Arg590=) c.1687C= (p.Arg563=) n.2071C= | |
X | g.18604743C>G | CA412362965 | CDKL5 | c.1819C>G (p.Arg607Gly) c.1768C>G (p.Arg590Gly) c.1687C>G (p.Arg563Gly) n.2071C>G | |
X | g.18604743C>T | CA412362962 | CDKL5 | c.1819C>T (p.Arg607Cys) c.1768C>T (p.Arg590Cys) c.1687C>T (p.Arg563Cys) n.2071C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
X | g.18604744G>A | CA412362973 | CDKL5 | c.1820G>A (p.Arg607His) c.1769G>A (p.Arg590His) c.1688G>A (p.Arg563His) n.2072G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604744G>C | CA412362978 | CDKL5 | c.1820G>C (p.Arg607Pro) c.1769G>C (p.Arg590Pro) c.1688G>C (p.Arg563Pro) n.2072G>C | |
X | g.18604744G= | CA2417974510 | CDKL5 | c.1820G= (p.Arg607=) c.1769G= (p.Arg590=) c.1688G= (p.Arg563=) n.2072G= | |
X | g.18604744G>T | CA412362976 | CDKL5 | c.1820G>T (p.Arg607Leu) c.1769G>T (p.Arg590Leu) c.1688G>T (p.Arg563Leu) n.2072G>T | |
X | g.18604745T>A | CA515628028 | CDKL5 | c.1821T>A (p.Arg607=) c.1770T>A (p.Arg590=) c.1689T>A (p.Arg563=) n.2073T>A | |
X | g.18604745T>C | CA515628029 | CDKL5 | c.1821T>C (p.Arg607=) c.1770T>C (p.Arg590=) c.1689T>C (p.Arg563=) n.2073T>C | ClinVar |
X | g.18604745T>G | CA515628031 | CDKL5 | c.1821T>G (p.Arg607=) c.1770T>G (p.Arg590=) c.1689T>G (p.Arg563=) n.2073T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.18604745T= | CA2417974511 | CDKL5 | c.1821T= (p.Arg607=) c.1770T= (p.Arg590=) c.1689T= (p.Arg563=) n.2073T= | |
X | g.18604746C>A | CA412362981 | CDKL5 | c.1822C>A (p.Pro608Thr) c.1771C>A (p.Pro591Thr) c.1690C>A (p.Pro564Thr) n.2074C>A | |
X | g.18604746C= | CA2417974512 | CDKL5 | c.1822C= (p.Pro608=) c.1771C= (p.Pro591=) c.1690C= (p.Pro564=) n.2074C= | |
X | g.18604746C>G | CA412362983 | CDKL5 | c.1822C>G (p.Pro608Ala) c.1771C>G (p.Pro591Ala) c.1690C>G (p.Pro564Ala) n.2074C>G | |
X | g.18604746C>T | CA412362986 | CDKL5 | c.1822C>T (p.Pro608Ser) c.1771C>T (p.Pro591Ser) c.1690C>T (p.Pro564Ser) n.2074C>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604747C>A | CA412362989 | CDKL5 | c.1823C>A (p.Pro608His) c.1772C>A (p.Pro591His) c.1691C>A (p.Pro564His) n.2075C>A | |
X | g.18604747C= | CA2417974513 | CDKL5 | c.1823C= (p.Pro608=) c.1772C= (p.Pro591=) c.1691C= (p.Pro564=) n.2075C= | |
X | g.18604747C>G | CA412362991 | CDKL5 | c.1823C>G (p.Pro608Arg) c.1772C>G (p.Pro591Arg) c.1691C>G (p.Pro564Arg) n.2075C>G | |
X | g.18604747C>T | CA412362994 | CDKL5 | c.1823C>T (p.Pro608Leu) c.1772C>T (p.Pro591Leu) c.1691C>T (p.Pro564Leu) n.2075C>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604748T>A | CA515628035 | CDKL5 | c.1824T>A (p.Pro608=) c.1773T>A (p.Pro591=) c.1692T>A (p.Pro564=) n.2076T>A | |
X | g.18604748T>C | CA515628036 | CDKL5 | c.1824T>C (p.Pro608=) c.1773T>C (p.Pro591=) c.1692T>C (p.Pro564=) n.2076T>C | |
X | g.18604748T>G | CA515628037 | CDKL5 | c.1824T>G (p.Pro608=) c.1773T>G (p.Pro591=) c.1692T>G (p.Pro564=) n.2076T>G | |
X | g.18604749C>A | CA412362995 | CDKL5 | c.1825C>A (p.His609Asn) c.1774C>A (p.His592Asn) c.1693C>A (p.His565Asn) n.2077C>A | |
X | g.18604749C>G | CA412362996 | CDKL5 | c.1825C>G (p.His609Asp) c.1774C>G (p.His592Asp) c.1693C>G (p.His565Asp) n.2077C>G | |
X | g.18604749C>T | CA412362997 | CDKL5 | c.1825C>T (p.His609Tyr) c.1774C>T (p.His592Tyr) c.1693C>T (p.His565Tyr) n.2077C>T | gnomAD v4 |
X | g.18604750A>C | CA412362999 | CDKL5 | c.1826A>C (p.His609Pro) c.1775A>C (p.His592Pro) c.1694A>C (p.His565Pro) n.2078A>C | |
X | g.18604750A>G | CA412363001 | CDKL5 | c.1826A>G (p.His609Arg) c.1775A>G (p.His592Arg) c.1694A>G (p.His565Arg) n.2078A>G | |
X | g.18604750A>T | CA412363003 | CDKL5 | c.1826A>T (p.His609Leu) c.1775A>T (p.His592Leu) c.1694A>T (p.His565Leu) n.2078A>T | |
X | g.18604751T>A | CA412363006 | CDKL5 | c.1827T>A (p.His609Gln) c.1776T>A (p.His592Gln) c.1695T>A (p.His565Gln) n.2079T>A | |
X | g.18604751T>C | CA10360424 | CDKL5 | c.1827T>C (p.His609=) c.1776T>C (p.His592=) c.1695T>C (p.His565=) n.2079T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604751T>G | CA412363008 | CDKL5 | c.1827T>G (p.His609Gln) c.1776T>G (p.His592Gln) c.1695T>G (p.His565Gln) n.2079T>G | |
X | g.18604751T= | CA2417974514 | CDKL5 | c.1827T= (p.His609=) c.1776T= (p.His592=) c.1695T= (p.His565=) n.2079T= | |
X | g.18604752A>C | CA515627591 | CDKL5 | c.1828A>C (p.Arg610=) c.1777A>C (p.Arg593=) c.1696A>C (p.Arg566=) n.2080A>C | |
X | g.18604752A>G | CA412363010 | CDKL5 | c.1828A>G (p.Arg610Gly) c.1777A>G (p.Arg593Gly) c.1696A>G (p.Arg566Gly) n.2080A>G | |
X | g.18604752A>T | CA412363012 | CDKL5 | c.1828A>T (p.Arg610Trp) c.1777A>T (p.Arg593Trp) c.1696A>T (p.Arg566Trp) n.2080A>T | |
X | g.18604753G>A | CA412363016 | CDKL5 | c.1829G>A (p.Arg610Lys) c.1778G>A (p.Arg593Lys) c.1697G>A (p.Arg566Lys) n.2081G>A | gnomAD v4 |
X | g.18604753G>C | CA412363019 | CDKL5 | c.1829G>C (p.Arg610Thr) c.1778G>C (p.Arg593Thr) c.1697G>C (p.Arg566Thr) n.2081G>C | |
X | g.18604753G>T | CA412363021 | CDKL5 | c.1829G>T (p.Arg610Met) c.1778G>T (p.Arg593Met) c.1697G>T (p.Arg566Met) n.2081G>T | |
X | g.18604754G>A | CA515627594 | CDKL5 | c.1830G>A (p.Arg610=) c.1779G>A (p.Arg593=) c.1698G>A (p.Arg566=) n.2082G>A | |
X | g.18604754G>C | CA412363025 | CDKL5 | c.1830G>C (p.Arg610Ser) c.1779G>C (p.Arg593Ser) c.1698G>C (p.Arg566Ser) n.2082G>C | |
X | g.18604754G>T | CA412363028 | CDKL5 | c.1830G>T (p.Arg610Ser) c.1779G>T (p.Arg593Ser) c.1698G>T (p.Arg566Ser) n.2082G>T | |
X | g.18604755C>A | CA412363031 | CDKL5 | c.1831C>A (p.His611Asn) c.1780C>A (p.His594Asn) c.1699C>A (p.His567Asn) n.2083C>A | |
X | g.18604755C>G | CA412363034 | CDKL5 | c.1831C>G (p.His611Asp) c.1780C>G (p.His594Asp) c.1699C>G (p.His567Asp) n.2083C>G | |
X | g.18604755C>T | CA412363037 | CDKL5 | c.1831C>T (p.His611Tyr) c.1780C>T (p.His594Tyr) c.1699C>T (p.His567Tyr) n.2083C>T | |
X | g.18604756A>C | CA412363059 | CDKL5 | c.1832A>C (p.His611Pro) c.1781A>C (p.His594Pro) c.1700A>C (p.His567Pro) n.2084A>C | |
X | g.18604756A>G | CA412363062 | CDKL5 | c.1832A>G (p.His611Arg) c.1781A>G (p.His594Arg) c.1700A>G (p.His567Arg) n.2084A>G | ClinVar |
X | g.18604756A>T | CA412363044 | CDKL5 | c.1832A>T (p.His611Leu) c.1781A>T (p.His594Leu) c.1700A>T (p.His567Leu) n.2084A>T | |
X | g.18604757T>A | CA412363065 | CDKL5 | c.1833T>A (p.His611Gln) c.1782T>A (p.His594Gln) c.1701T>A (p.His567Gln) n.2085T>A | |
X | g.18604757T>C | CA515627596 | CDKL5 | c.1833T>C (p.His611=) c.1782T>C (p.His594=) c.1701T>C (p.His567=) n.2085T>C | |
X | g.18604757T>G | CA412363068 | CDKL5 | c.1833T>G (p.His611Gln) c.1782T>G (p.His594Gln) c.1701T>G (p.His567Gln) n.2085T>G | |
X | g.18604757_18604758del | CA2695231328 | CDKL5 | c.1833_1834del (p.Ser612TyrfsTer6) c.1782_1783del (p.Ser595TyrfsTer6) c.1701_1702del (p.Ser568TyrfsTer6) n.2085_2086del | |
X | g.18604758T>A | CA412363085 | CDKL5 | c.1834T>A (p.Ser612Thr) c.1783T>A (p.Ser595Thr) c.1702T>A (p.Ser568Thr) n.2086T>A | |
X | g.18604758T>C | CA412363089 | CDKL5 | c.1834T>C (p.Ser612Pro) c.1783T>C (p.Ser595Pro) c.1702T>C (p.Ser568Pro) n.2086T>C | |
X | g.18604758T>G | CA412363093 | CDKL5 | c.1834T>G (p.Ser612Ala) c.1783T>G (p.Ser595Ala) c.1702T>G (p.Ser568Ala) n.2086T>G | |
X | g.18604759C>A | CA412363099 | CDKL5 | c.1835C>A (p.Ser612Tyr) c.1784C>A (p.Ser595Tyr) c.1703C>A (p.Ser568Tyr) n.2087C>A | |
X | g.18604759C>G | CA412363097 | CDKL5 | c.1835C>G (p.Ser612Cys) c.1784C>G (p.Ser595Cys) c.1703C>G (p.Ser568Cys) n.2087C>G | |
X | g.18604759C>T | CA412363096 | CDKL5 | c.1835C>T (p.Ser612Phe) c.1784C>T (p.Ser595Phe) c.1703C>T (p.Ser568Phe) n.2087C>T | |
X | g.18604760T>A | CA515627598 | CDKL5 | c.1836T>A (p.Ser612=) c.1785T>A (p.Ser595=) c.1704T>A (p.Ser568=) n.2088T>A | |
X | g.18604760T>C | CA515627599 | CDKL5 | c.1836T>C (p.Ser612=) c.1785T>C (p.Ser595=) c.1704T>C (p.Ser568=) n.2088T>C | |
X | g.18604760T>G | CA515627600 | CDKL5 | c.1836T>G (p.Ser612=) c.1785T>G (p.Ser595=) c.1704T>G (p.Ser568=) n.2088T>G | |
X | g.18604761A>C | CA412363104 | CDKL5 | c.1837A>C (p.Met613Leu) c.1786A>C (p.Met596Leu) c.1705A>C (p.Met569Leu) n.2089A>C | |
X | g.18604761A>G | CA412363108 | CDKL5 | c.1837A>G (p.Met613Val) c.1786A>G (p.Met596Val) c.1705A>G (p.Met569Val) n.2089A>G | ClinVar |
X | g.18604761A>T | CA412363121 | CDKL5 | c.1837A>T (p.Met613Leu) c.1786A>T (p.Met596Leu) c.1705A>T (p.Met569Leu) n.2089A>T | gnomAD v4 |
X | g.18604762T>A | CA412363123 | CDKL5 | c.1838T>A (p.Met613Lys) c.1787T>A (p.Met596Lys) c.1706T>A (p.Met569Lys) n.2090T>A | |
X | g.18604762T>C | CA412363126 | CDKL5 | c.1838T>C (p.Met613Thr) c.1787T>C (p.Met596Thr) c.1706T>C (p.Met569Thr) n.2090T>C | |
X | g.18604762T>G | CA412363128 | CDKL5 | c.1838T>G (p.Met613Arg) c.1787T>G (p.Met596Arg) c.1706T>G (p.Met569Arg) n.2090T>G | |
X | g.18604763G>A | CA412363145 | CDKL5 | c.1839G>A (p.Met613Ile) c.1788G>A (p.Met596Ile) c.1707G>A (p.Met569Ile) n.2091G>A | |
X | g.18604763G>C | CA412363147 | CDKL5 | c.1839G>C (p.Met613Ile) c.1788G>C (p.Met596Ile) c.1707G>C (p.Met569Ile) n.2091G>C | |
X | g.18604763G>T | CA412363146 | CDKL5 | c.1839G>T (p.Met613Ile) c.1788G>T (p.Met596Ile) c.1707G>T (p.Met569Ile) n.2091G>T | |
X | g.18604764T>A | CA412363148 | CDKL5 | c.1840T>A (p.Tyr614Asn) c.1789T>A (p.Tyr597Asn) c.1708T>A (p.Tyr570Asn) n.2092T>A | |
X | g.18604764T>C | CA412363149 | CDKL5 | c.1840T>C (p.Tyr614His) c.1789T>C (p.Tyr597His) c.1708T>C (p.Tyr570His) n.2092T>C | |
X | g.18604764T>G | CA412363151 | CDKL5 | c.1840T>G (p.Tyr614Asp) c.1789T>G (p.Tyr597Asp) c.1708T>G (p.Tyr570Asp) n.2092T>G | |
X | g.18604765A>C | CA412363156 | CDKL5 | c.1841A>C (p.Tyr614Ser) c.1790A>C (p.Tyr597Ser) c.1709A>C (p.Tyr570Ser) n.2093A>C | |
X | g.18604765A>G | CA412363158 | CDKL5 | c.1841A>G (p.Tyr614Cys) c.1790A>G (p.Tyr597Cys) c.1709A>G (p.Tyr570Cys) n.2093A>G | |
X | g.18604765A>T | CA412363161 | CDKL5 | c.1841A>T (p.Tyr614Phe) c.1790A>T (p.Tyr597Phe) c.1709A>T (p.Tyr570Phe) n.2093A>T | |
X | g.18604766T>A | CA412363163 | CDKL5 | c.1842T>A (p.Tyr614Ter) c.1791T>A (p.Tyr597Ter) c.1710T>A (p.Tyr570Ter) n.2094T>A | |
X | g.18604766T>C | CA515627605 | CDKL5 | c.1842T>C (p.Tyr614=) c.1791T>C (p.Tyr597=) c.1710T>C (p.Tyr570=) n.2094T>C | |
X | g.18604766T>G | CA412363165 | CDKL5 | c.1842T>G (p.Tyr614Ter) c.1791T>G (p.Tyr597Ter) c.1710T>G (p.Tyr570Ter) n.2094T>G | |
X | g.18604767G>A | CA412363167 | CDKL5 | c.1843G>A (p.Val615Met) c.1792G>A (p.Val598Met) c.1711G>A (p.Val571Met) n.2095G>A | |
X | g.18604767G>C | CA412363169 | CDKL5 | c.1843G>C (p.Val615Leu) c.1792G>C (p.Val598Leu) c.1711G>C (p.Val571Leu) n.2095G>C | |
X | g.18604767G>T | CA412363186 | CDKL5 | c.1843G>T (p.Val615Leu) c.1792G>T (p.Val598Leu) c.1711G>T (p.Val571Leu) n.2095G>T | |
X | g.18604768T>A | CA412363195 | CDKL5 | c.1844T>A (p.Val615Glu) c.1793T>A (p.Val598Glu) c.1712T>A (p.Val571Glu) n.2096T>A | |
X | g.18604768T>C | CA412363191 | CDKL5 | c.1844T>C (p.Val615Ala) c.1793T>C (p.Val598Ala) c.1712T>C (p.Val571Ala) n.2096T>C | |
X | g.18604768T>G | CA412363188 | CDKL5 | c.1844T>G (p.Val615Gly) c.1793T>G (p.Val598Gly) c.1712T>G (p.Val571Gly) n.2096T>G | |
X | g.18604769G>A | CA515627609 | CDKL5 | c.1845G>A (p.Val615=) c.1794G>A (p.Val598=) c.1713G>A (p.Val571=) n.2097G>A | |
X | g.18604769G>C | CA515627610 | CDKL5 | c.1845G>C (p.Val615=) c.1794G>C (p.Val598=) c.1713G>C (p.Val571=) n.2097G>C | |
X | g.18604769G>T | CA515627611 | CDKL5 | c.1845G>T (p.Val615=) c.1794G>T (p.Val598=) c.1713G>T (p.Val571=) n.2097G>T | |
X | g.18604770A>C | CA412363199 | CDKL5 | c.1846A>C (p.Thr616Pro) c.1795A>C (p.Thr599Pro) c.1714A>C (p.Thr572Pro) n.2098A>C | |
X | g.18604770A>G | CA412363202 | CDKL5 | c.1846A>G (p.Thr616Ala) c.1795A>G (p.Thr599Ala) c.1714A>G (p.Thr572Ala) n.2098A>G | |
X | g.18604770A>T | CA412363200 | CDKL5 | c.1846A>T (p.Thr616Ser) c.1795A>T (p.Thr599Ser) c.1714A>T (p.Thr572Ser) n.2098A>T | gnomAD v4 |
X | g.18604771C>A | CA412363205 | CDKL5 | c.1847C>A (p.Thr616Asn) c.1796C>A (p.Thr599Asn) c.1715C>A (p.Thr572Asn) n.2099C>A | |
X | g.18604771C= | CA2417974515 | CDKL5 | c.1847C= (p.Thr616=) c.1796C= (p.Thr599=) c.1715C= (p.Thr572=) n.2099C= | |
X | g.18604771C>G | CA412363208 | CDKL5 | c.1847C>G (p.Thr616Ser) c.1796C>G (p.Thr599Ser) c.1715C>G (p.Thr572Ser) n.2099C>G | |
X | g.18604771C>T | CA412363214 | CDKL5 | c.1847C>T (p.Thr616Ile) c.1796C>T (p.Thr599Ile) c.1715C>T (p.Thr572Ile) n.2099C>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.18604773del | CA2695231330 | CDKL5 | c.1849del (p.Arg617ValfsTer4) c.1798del (p.Arg600ValfsTer4) c.1717del (p.Arg573ValfsTer4) n.2101del | |
X | g.18604772C>A | CA515627615 | CDKL5 | c.1848C>A (p.Thr616=) c.1797C>A (p.Thr599=) c.1716C>A (p.Thr572=) n.2100C>A | |
X | g.18604772C>G | CA515627614 | CDKL5 | c.1848C>G (p.Thr616=) c.1797C>G (p.Thr599=) c.1716C>G (p.Thr572=) n.2100C>G | |
X | g.18604772C>T | CA515627613 | CDKL5 | c.1848C>T (p.Thr616=) c.1797C>T (p.Thr599=) c.1716C>T (p.Thr572=) n.2100C>T | |
X | g.18604773C>A | CA412363218 | CDKL5 | c.1849C>A (p.Arg617Ser) c.1798C>A (p.Arg600Ser) c.1717C>A (p.Arg573Ser) n.2101C>A | |
X | g.18604773C= | CA2417974516 | CDKL5 | c.1849C= (p.Arg617=) c.1798C= (p.Arg600=) c.1717C= (p.Arg573=) n.2101C= | |
X | g.18604773C>G | CA412363221 | CDKL5 | c.1849C>G (p.Arg617Gly) c.1798C>G (p.Arg600Gly) c.1717C>G (p.Arg573Gly) n.2101C>G | |
X | g.18604773C>T | CA412363225 | CDKL5 | c.1849C>T (p.Arg617Cys) c.1798C>T (p.Arg600Cys) c.1717C>T (p.Arg573Cys) n.2101C>T | dbSNP |
X | g.18604774G>A | CA412363246 | CDKL5 | c.1850G>A (p.Arg617His) c.1799G>A (p.Arg600His) c.1718G>A (p.Arg573His) n.2102G>A | ClinVar gnomAD v4 |
X | g.18604774G>C | CA412363243 | CDKL5 | c.1850G>C (p.Arg617Pro) c.1799G>C (p.Arg600Pro) c.1718G>C (p.Arg573Pro) n.2102G>C | |
X | g.18604774G>T | CA412363228 | CDKL5 | c.1850G>T (p.Arg617Leu) c.1799G>T (p.Arg600Leu) c.1718G>T (p.Arg573Leu) n.2102G>T | ClinVar dbSNP |
X | g.18604775T>A | CA515627617 | CDKL5 | c.1851T>A (p.Arg617=) c.1800T>A (p.Arg600=) c.1719T>A (p.Arg573=) n.2103T>A | |
X | g.18604775T>C | CA515627618 | CDKL5 | c.1851T>C (p.Arg617=) c.1800T>C (p.Arg600=) c.1719T>C (p.Arg573=) n.2103T>C | |
X | g.18604775T>G | CA515627619 | CDKL5 | c.1851T>G (p.Arg617=) c.1800T>G (p.Arg600=) c.1719T>G (p.Arg573=) n.2103T>G | |
X | g.18604776G>A | CA412363250 | CDKL5 | c.1852G>A (p.Asp618Asn) c.1801G>A (p.Asp601Asn) c.1720G>A (p.Asp574Asn) n.2104G>A | |
X | g.18604776G>C | CA412363253 | CDKL5 | c.1852G>C (p.Asp618His) c.1801G>C (p.Asp601His) c.1720G>C (p.Asp574His) n.2104G>C | |
X | g.18604776G= | CA2417974517 | CDKL5 | c.1852G= (p.Asp618=) c.1801G= (p.Asp601=) c.1720G= (p.Asp574=) n.2104G= | |
X | g.18604776G>T | CA412363255 | CDKL5 | c.1852G>T (p.Asp618Tyr) c.1801G>T (p.Asp601Tyr) c.1720G>T (p.Asp574Tyr) n.2104G>T | |
X | g.18604776_18604777insT | CA916083844 | CDKL5 | c.1852_1853insT (p.Asp618ValfsTer21) c.1801_1802insT (p.Asp601ValfsTer21) c.1720_1721insT (p.Asp574ValfsTer21) n.2104_2105insT | ClinVar dbSNP |
X | g.18604777A>C | CA412363262 | CDKL5 | c.1853A>C (p.Asp618Ala) c.1802A>C (p.Asp601Ala) c.1721A>C (p.Asp574Ala) n.2105A>C | |
X | g.18604777A>G | CA412363265 | CDKL5 | c.1853A>G (p.Asp618Gly) c.1802A>G (p.Asp601Gly) c.1721A>G (p.Asp574Gly) n.2105A>G | |
X | g.18604777A>T | CA412363267 | CDKL5 | c.1853A>T (p.Asp618Val) c.1802A>T (p.Asp601Val) c.1721A>T (p.Asp574Val) n.2105A>T | |
X | g.18604777_18604778delinsAC | CA2417974518 | CDKL5 | c.1853_1854delinsAC (p.Asp618=) c.1802_1803delinsAC (p.Asp601=) c.1721_1722delinsAC (p.Asp574=) n.2105_2106delinsAC | |
X | g.18604778del | CA199384 | CDKL5 | c.1854del (p.Asp618GlufsTer3) c.1803del (p.Asp601GlufsTer3) c.1722del (p.Asp574GlufsTer3) n.2106del | ClinVar dbSNP |
X | g.18604778C>A | CA412363273 | CDKL5 | c.1854C>A (p.Asp618Glu) c.1803C>A (p.Asp601Glu) c.1722C>A (p.Asp574Glu) n.2106C>A | |
X | g.18604778C>G | CA412363276 | CDKL5 | c.1854C>G (p.Asp618Glu) c.1803C>G (p.Asp601Glu) c.1722C>G (p.Asp574Glu) n.2106C>G | |
X | g.18604778C>T | CA515627621 | CDKL5 | c.1854C>T (p.Asp618=) c.1803C>T (p.Asp601=) c.1722C>T (p.Asp574=) n.2106C>T | |
X | g.18604779A>C | CA412363280 | CDKL5 | c.1855A>C (p.Lys619Gln) c.1804A>C (p.Lys602Gln) c.1723A>C (p.Lys575Gln) n.2107A>C | |
X | g.18604779A>G | CA412363284 | CDKL5 | c.1855A>G (p.Lys619Glu) c.1804A>G (p.Lys602Glu) c.1723A>G (p.Lys575Glu) n.2107A>G | |
X | g.18604779A>T | CA412363287 | CDKL5 | c.1855A>T (p.Lys619Ter) c.1804A>T (p.Lys602Ter) c.1723A>T (p.Lys575Ter) n.2107A>T | |
X | g.18604780A= | CA2417974519 | CDKL5 | c.1856A= (p.Lys619=) c.1805A= (p.Lys602=) c.1724A= (p.Lys575=) n.2108A= | |
X | g.18604780A>C | CA412363291 | CDKL5 | c.1856A>C (p.Lys619Thr) c.1805A>C (p.Lys602Thr) c.1724A>C (p.Lys575Thr) n.2108A>C | |
X | g.18604780A>G | CA412363294 | CDKL5 | c.1856A>G (p.Lys619Arg) c.1805A>G (p.Lys602Arg) c.1724A>G (p.Lys575Arg) n.2108A>G | ClinVar dbSNP |
X | g.18604780A>T | CA412363298 | CDKL5 | c.1856A>T (p.Lys619Ile) c.1805A>T (p.Lys602Ile) c.1724A>T (p.Lys575Ile) n.2108A>T | |
X | g.18604781A>C | CA412363305 | CDKL5 | c.1857A>C (p.Lys619Asn) c.1806A>C (p.Lys602Asn) c.1725A>C (p.Lys575Asn) n.2109A>C | |
X | g.18604781A>G | CA515627624 | CDKL5 | c.1857A>G (p.Lys619=) c.1806A>G (p.Lys602=) c.1725A>G (p.Lys575=) n.2109A>G | |
X | g.18604781A>T | CA412363308 | CDKL5 | c.1857A>T (p.Lys619Asn) c.1806A>T (p.Lys602Asn) c.1725A>T (p.Lys575Asn) n.2109A>T | |
X | g.18604782G>A | CA326987934 | CDKL5 | c.1858G>A (p.Val620Met) c.1807G>A (p.Val603Met) c.1726G>A (p.Val576Met) n.2110G>A | dbSNP |
X | g.18604782G>C | CA326987931 | CDKL5 | c.1858G>C (p.Val620Leu) c.1807G>C (p.Val603Leu) c.1726G>C (p.Val576Leu) n.2110G>C | dbSNP |
X | g.18604782G= | CA2417974520 | CDKL5 | c.1858G= (p.Val620=) c.1807G= (p.Val603=) c.1726G= (p.Val576=) n.2110G= | |
X | g.18604782G>T | CA412363320 | CDKL5 | c.1858G>T (p.Val620Leu) c.1807G>T (p.Val603Leu) c.1726G>T (p.Val576Leu) n.2110G>T | |
X | g.18604783T>A | CA412363327 | CDKL5 | c.1859T>A (p.Val620Glu) c.1808T>A (p.Val603Glu) c.1727T>A (p.Val576Glu) n.2111T>A | |
X | g.18604783T>C | CA412363331 | CDKL5 | c.1859T>C (p.Val620Ala) c.1808T>C (p.Val603Ala) c.1727T>C (p.Val576Ala) n.2111T>C | |
X | g.18604783T>G | CA412363329 | CDKL5 | c.1859T>G (p.Val620Gly) c.1808T>G (p.Val603Gly) c.1727T>G (p.Val576Gly) n.2111T>G | |
X | g.18604784G>A | CA515627627 | CDKL5 | c.1860G>A (p.Val620=) c.1809G>A (p.Val603=) c.1728G>A (p.Val576=) n.2112G>A | |
X | g.18604784G>C | CA515627628 | CDKL5 | c.1860G>C (p.Val620=) c.1809G>C (p.Val603=) c.1728G>C (p.Val576=) n.2112G>C | |
X | g.18604784G>T | CA515627629 | CDKL5 | c.1860G>T (p.Val620=) c.1809G>T (p.Val603=) c.1728G>T (p.Val576=) n.2112G>T | |
X | g.18604786_18604801del | CA2695231331 | CDKL5 | c.1862_1877del (p.Arg621MetfsTer4) c.1811_1826del (p.Arg604MetfsTer4) c.1730_1745del (p.Arg577MetfsTer4) n.2114_2129del | |
X | g.18604785A>C | CA515627630 | CDKL5 | c.1861A>C (p.Arg621=) c.1810A>C (p.Arg604=) c.1729A>C (p.Arg577=) n.2113A>C | |
X | g.18604785A>G | CA412363333 | CDKL5 | c.1861A>G (p.Arg621Gly) c.1810A>G (p.Arg604Gly) c.1729A>G (p.Arg577Gly) n.2113A>G | |
X | g.18604785A>T | CA412363335 | CDKL5 | c.1861A>T (p.Arg621Ter) c.1810A>T (p.Arg604Ter) c.1729A>T (p.Arg577Ter) n.2113A>T | |
X | g.18604786G>A | CA412363339 | CDKL5 | c.1862G>A (p.Arg621Lys) c.1811G>A (p.Arg604Lys) c.1730G>A (p.Arg577Lys) n.2114G>A | gnomAD v4 |
X | g.18604786G>C | CA412363345 | CDKL5 | c.1862G>C (p.Arg621Thr) c.1811G>C (p.Arg604Thr) c.1730G>C (p.Arg577Thr) n.2114G>C | |
X | g.18604786G>T | CA412363348 | CDKL5 | c.1862G>T (p.Arg621Ile) c.1811G>T (p.Arg604Ile) c.1730G>T (p.Arg577Ile) n.2114G>T | |
X | g.18604787A>C | CA412363350 | CDKL5 | c.1863A>C (p.Arg621Ser) c.1812A>C (p.Arg604Ser) c.1731A>C (p.Arg577Ser) n.2115A>C | |
X | g.18604787A>G | CA515627632 | CDKL5 | c.1863A>G (p.Arg621=) c.1812A>G (p.Arg604=) c.1731A>G (p.Arg577=) n.2115A>G | |
X | g.18604787A>T | CA412363354 | CDKL5 | c.1863A>T (p.Arg621Ser) c.1812A>T (p.Arg604Ser) c.1731A>T (p.Arg577Ser) n.2115A>T | |
X | g.18604788G>A | CA412363357 | CDKL5 | c.1864G>A (p.Ala622Thr) c.1813G>A (p.Ala605Thr) c.1732G>A (p.Ala578Thr) n.2116G>A | |
X | g.18604788G>C | CA412363359 | CDKL5 | c.1864G>C (p.Ala622Pro) c.1813G>C (p.Ala605Pro) c.1732G>C (p.Ala578Pro) n.2116G>C | |
X | g.18604788G>T | CA412363365 | CDKL5 | c.1864G>T (p.Ala622Ser) c.1813G>T (p.Ala605Ser) c.1732G>T (p.Ala578Ser) n.2116G>T | |
X | g.18604789C>A | CA412363376 | CDKL5 | c.1865C>A (p.Ala622Asp) c.1814C>A (p.Ala605Asp) c.1733C>A (p.Ala578Asp) n.2117C>A | |
X | g.18604789C>G | CA412363378 | CDKL5 | c.1865C>G (p.Ala622Gly) c.1814C>G (p.Ala605Gly) c.1733C>G (p.Ala578Gly) n.2117C>G | |
X | g.18604789C>T | CA412363381 | CDKL5 | c.1865C>T (p.Ala622Val) c.1814C>T (p.Ala605Val) c.1733C>T (p.Ala578Val) n.2117C>T | COSMIC |
X | g.18604790C>A | CA515627639 | CDKL5 | c.1866C>A (p.Ala622=) c.1815C>A (p.Ala605=) c.1734C>A (p.Ala578=) n.2118C>A | |
X | g.18604790C= | CA2417974521 | CDKL5 | c.1866C= (p.Ala622=) c.1815C= (p.Ala605=) c.1734C= (p.Ala578=) n.2118C= | |
X | g.18604790C>G | CA515627641 | CDKL5 | c.1866C>G (p.Ala622=) c.1815C>G (p.Ala605=) c.1734C>G (p.Ala578=) n.2118C>G | |
X | g.18604790C>T | CA515627642 | CDKL5 | c.1866C>T (p.Ala622=) c.1815C>T (p.Ala605=) c.1734C>T (p.Ala578=) n.2118C>T | ClinVar dbSNP gnomAD v4 |
X | g.18604791A>C | CA412363396 | CDKL5 | c.1867A>C (p.Lys623Gln) c.1816A>C (p.Lys606Gln) c.1735A>C (p.Lys579Gln) n.2119A>C | |
X | g.18604791A>G | CA412363407 | CDKL5 | c.1867A>G (p.Lys623Glu) c.1816A>G (p.Lys606Glu) c.1735A>G (p.Lys579Glu) n.2119A>G | |
X | g.18604791A>T | CA412363400 | CDKL5 | c.1867A>T (p.Lys623Ter) c.1816A>T (p.Lys606Ter) c.1735A>T (p.Lys579Ter) n.2119A>T | |
X | g.18604792A>C | CA412363412 | CDKL5 | c.1868A>C (p.Lys623Thr) c.1817A>C (p.Lys606Thr) c.1736A>C (p.Lys579Thr) n.2120A>C | |
X | g.18604792A>G | CA412363415 | CDKL5 | c.1868A>G (p.Lys623Arg) c.1817A>G (p.Lys606Arg) c.1736A>G (p.Lys579Arg) n.2120A>G | |
X | g.18604792A>T | CA412363422 | CDKL5 | c.1868A>T (p.Lys623Met) c.1817A>T (p.Lys606Met) c.1736A>T (p.Lys579Met) n.2120A>T | |
X | g.18604793G>A | CA515627643 | CDKL5 | c.1869G>A (p.Lys623=) c.1818G>A (p.Lys606=) c.1737G>A (p.Lys579=) n.2121G>A | |
X | g.18604793G>C | CA10360425 | CDKL5 | c.1869G>C (p.Lys623Asn) c.1818G>C (p.Lys606Asn) c.1737G>C (p.Lys579Asn) n.2121G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604793G= | CA2417974522 | CDKL5 | c.1869G= (p.Lys623=) c.1818G= (p.Lys606=) c.1737G= (p.Lys579=) n.2121G= | |
X | g.18604793G>T | CA412363427 | CDKL5 | c.1869G>T (p.Lys623Asn) c.1818G>T (p.Lys606Asn) c.1737G>T (p.Lys579Asn) n.2121G>T | COSMIC |
X | g.18604794G>A | CA412363433 | CDKL5 | c.1870G>A (p.Gly624Ser) c.1819G>A (p.Gly607Ser) c.1738G>A (p.Gly580Ser) n.2122G>A | |
X | g.18604794G>C | CA412363434 | CDKL5 | c.1870G>C (p.Gly624Arg) c.1819G>C (p.Gly607Arg) c.1738G>C (p.Gly580Arg) n.2122G>C | |
X | g.18604794G>T | CA412363435 | CDKL5 | c.1870G>T (p.Gly624Cys) c.1819G>T (p.Gly607Cys) c.1738G>T (p.Gly580Cys) n.2122G>T | |
X | g.18604795G>A | CA412363436 | CDKL5 | c.1871G>A (p.Gly624Asp) c.1820G>A (p.Gly607Asp) c.1739G>A (p.Gly580Asp) n.2123G>A | COSMIC |
X | g.18604795G>C | CA412363437 | CDKL5 | c.1871G>C (p.Gly624Ala) c.1820G>C (p.Gly607Ala) c.1739G>C (p.Gly580Ala) n.2123G>C | |
X | g.18604795G>T | CA412363438 | CDKL5 | c.1871G>T (p.Gly624Val) c.1820G>T (p.Gly607Val) c.1739G>T (p.Gly580Val) n.2123G>T | |
X | g.18604796C>A | CA515627646 | CDKL5 | c.1872C>A (p.Gly624=) c.1821C>A (p.Gly607=) c.1740C>A (p.Gly580=) n.2124C>A | |
X | g.18604796C>G | CA515627647 | CDKL5 | c.1872C>G (p.Gly624=) c.1821C>G (p.Gly607=) c.1740C>G (p.Gly580=) n.2124C>G | |
X | g.18604796C>T | CA515627648 | CDKL5 | c.1872C>T (p.Gly624=) c.1821C>T (p.Gly607=) c.1740C>T (p.Gly580=) n.2124C>T | |
X | g.18604797T>A | CA412363446 | CDKL5 | c.1873T>A (p.Leu625Met) c.1822T>A (p.Leu608Met) c.1741T>A (p.Leu581Met) n.2125T>A | |
X | g.18604797T>C | CA515627649 | CDKL5 | c.1873T>C (p.Leu625=) c.1822T>C (p.Leu608=) c.1741T>C (p.Leu581=) n.2125T>C | |
X | g.18604797T>G | CA412363443 | CDKL5 | c.1873T>G (p.Leu625Val) c.1822T>G (p.Leu608Val) c.1741T>G (p.Leu581Val) n.2125T>G | |
X | g.18604798T>A | CA412363451 | CDKL5 | c.1874T>A (p.Leu625Ter) c.1823T>A (p.Leu608Ter) c.1742T>A (p.Leu581Ter) n.2126T>A | |
X | g.18604798T>C | CA412363467 | CDKL5 | c.1874T>C (p.Leu625Ser) c.1823T>C (p.Leu608Ser) c.1742T>C (p.Leu581Ser) n.2126T>C | |
X | g.18604798T>G | CA412363481 | CDKL5 | c.1874T>G (p.Leu625Trp) c.1823T>G (p.Leu608Trp) c.1742T>G (p.Leu581Trp) n.2126T>G | ClinVar |
X | g.18604799G>A | CA515627652 | CDKL5 | c.1875G>A (p.Leu625=) c.1824G>A (p.Leu608=) c.1743G>A (p.Leu581=) n.2127G>A | |
X | g.18604799G>C | CA412363488 | CDKL5 | c.1875G>C (p.Leu625Phe) c.1824G>C (p.Leu608Phe) c.1743G>C (p.Leu581Phe) n.2127G>C | |
X | g.18604799G>T | CA412363497 | CDKL5 | c.1875G>T (p.Leu625Phe) c.1824G>T (p.Leu608Phe) c.1743G>T (p.Leu581Phe) n.2127G>T | |
X | g.18604800G>A | CA412363498 | CDKL5 | c.1876G>A (p.Asp626Asn) c.1825G>A (p.Asp609Asn) c.1744G>A (p.Asp582Asn) n.2128G>A | |
X | g.18604800G>C | CA412363499 | CDKL5 | c.1876G>C (p.Asp626His) c.1825G>C (p.Asp609His) c.1744G>C (p.Asp582His) n.2128G>C | |
X | g.18604800G>T | CA412363500 | CDKL5 | c.1876G>T (p.Asp626Tyr) c.1825G>T (p.Asp609Tyr) c.1744G>T (p.Asp582Tyr) n.2128G>T | COSMIC |
X | g.18604801A>C | CA412363503 | CDKL5 | c.1877A>C (p.Asp626Ala) c.1826A>C (p.Asp609Ala) c.1745A>C (p.Asp582Ala) n.2129A>C | |
X | g.18604801A>G | CA412363515 | CDKL5 | c.1877A>G (p.Asp626Gly) c.1826A>G (p.Asp609Gly) c.1745A>G (p.Asp582Gly) n.2129A>G | |
X | g.18604801A>T | CA412363518 | CDKL5 | c.1877A>T (p.Asp626Val) c.1826A>T (p.Asp609Val) c.1745A>T (p.Asp582Val) n.2129A>T | |
X | g.18604802T>A | CA412363527 | CDKL5 | c.1878T>A (p.Asp626Glu) c.1827T>A (p.Asp609Glu) c.1746T>A (p.Asp582Glu) n.2130T>A | gnomAD v4 |
X | g.18604802T>C | CA515627658 | CDKL5 | c.1878T>C (p.Asp626=) c.1827T>C (p.Asp609=) c.1746T>C (p.Asp582=) n.2130T>C | |
X | g.18604802T>G | CA412363545 | CDKL5 | c.1878T>G (p.Asp626Glu) c.1827T>G (p.Asp609Glu) c.1746T>G (p.Asp582Glu) n.2130T>G | |
X | g.18604802_18604803insTTT | CA2693222736 | CDKL5 | c.1878_1879insTTT (p.Asp626_Gly627insPhe) c.1827_1828insTTT (p.Asp609_Gly610insPhe) c.1746_1747insTTT (p.Asp582_Gly583insPhe) n.2130_2131insTTT | gnomAD v4 |
X | g.18604803G>A | CA412363575 | CDKL5 | c.1879G>A (p.Gly627Arg) c.1828G>A (p.Gly610Arg) c.1747G>A (p.Gly583Arg) n.2131G>A | |
X | g.18604803G>C | CA412363571 | CDKL5 | c.1879G>C (p.Gly627Arg) c.1828G>C (p.Gly610Arg) c.1747G>C (p.Gly583Arg) n.2131G>C | |
X | g.18604803G>T | CA412363550 | CDKL5 | c.1879G>T (p.Gly627Ter) c.1828G>T (p.Gly610Ter) c.1747G>T (p.Gly583Ter) n.2131G>T | |
X | g.18604804G>A | CA412363580 | CDKL5 | c.1880G>A (p.Gly627Glu) c.1829G>A (p.Gly610Glu) c.1748G>A (p.Gly583Glu) n.2132G>A | |
X | g.18604804G>C | CA412363584 | CDKL5 | c.1880G>C (p.Gly627Ala) c.1829G>C (p.Gly610Ala) c.1748G>C (p.Gly583Ala) n.2132G>C | |
X | g.18604804G>T | CA412363587 | CDKL5 | c.1880G>T (p.Gly627Val) c.1829G>T (p.Gly610Val) c.1748G>T (p.Gly583Val) n.2132G>T | |
X | g.18604805A>C | CA515627659 | CDKL5 | c.1881A>C (p.Gly627=) c.1830A>C (p.Gly610=) c.1749A>C (p.Gly583=) n.2133A>C | |
X | g.18604805A>G | CA515627661 | CDKL5 | c.1881A>G (p.Gly627=) c.1830A>G (p.Gly610=) c.1749A>G (p.Gly583=) n.2133A>G | |
X | g.18604805A>T | CA515627662 | CDKL5 | c.1881A>T (p.Gly627=) c.1830A>T (p.Gly610=) c.1749A>T (p.Gly583=) n.2133A>T | |
X | g.18604806A>C | CA412363594 | CDKL5 | c.1882A>C (p.Ser628Arg) c.1831A>C (p.Ser611Arg) c.1750A>C (p.Ser584Arg) n.2134A>C | |
X | g.18604806A>G | CA412363596 | CDKL5 | c.1882A>G (p.Ser628Gly) c.1831A>G (p.Ser611Gly) c.1750A>G (p.Ser584Gly) n.2134A>G | |
X | g.18604806A>T | CA412363601 | CDKL5 | c.1882A>T (p.Ser628Cys) c.1831A>T (p.Ser611Cys) c.1750A>T (p.Ser584Cys) n.2134A>T | |
X | g.18604806_18604807delinsAG | CA2417974523 | CDKL5 | c.1882_1883delinsAG (p.Ser628=) c.1831_1832delinsAG (p.Ser611=) c.1750_1751delinsAG (p.Ser584=) n.2134_2135delinsAG | |
X | g.18604807del | CA916083845 | CDKL5 | c.1883del (p.Ser628ThrfsTer2) c.1832del (p.Ser611ThrfsTer2) c.1751del (p.Ser584ThrfsTer2) n.2135del | ClinVar dbSNP |
X | g.18604807G>A | CA412363604 | CDKL5 | c.1883G>A (p.Ser628Asn) c.1832G>A (p.Ser611Asn) c.1751G>A (p.Ser584Asn) n.2135G>A | ClinVar dbSNP |
X | g.18604807G>C | CA412363607 | CDKL5 | c.1883G>C (p.Ser628Thr) c.1832G>C (p.Ser611Thr) c.1751G>C (p.Ser584Thr) n.2135G>C | |
X | g.18604807G>T | CA412363611 | CDKL5 | c.1883G>T (p.Ser628Ile) c.1832G>T (p.Ser611Ile) c.1751G>T (p.Ser584Ile) n.2135G>T | |
X | g.18604808C>A | CA412363614 | CDKL5 | c.1884C>A (p.Ser628Arg) c.1833C>A (p.Ser611Arg) c.1752C>A (p.Ser584Arg) n.2136C>A | |
X | g.18604808C= | CA2417974524 | CDKL5 | c.1884C= (p.Ser628=) c.1833C= (p.Ser611=) c.1752C= (p.Ser584=) n.2136C= | |
X | g.18604808C>G | CA412363627 | CDKL5 | c.1884C>G (p.Ser628Arg) c.1833C>G (p.Ser611Arg) c.1752C>G (p.Ser584Arg) n.2136C>G | |
X | g.18604808C>T | CA515627665 | CDKL5 | c.1884C>T (p.Ser628=) c.1833C>T (p.Ser611=) c.1752C>T (p.Ser584=) n.2136C>T | |
X | g.18604809T>A | CA412363631 | CDKL5 | c.1885T>A (p.Leu629Met) c.1834T>A (p.Leu612Met) c.1753T>A (p.Leu585Met) n.2137T>A | |
X | g.18604809T>C | CA515627668 | CDKL5 | c.1885T>C (p.Leu629=) c.1834T>C (p.Leu612=) c.1753T>C (p.Leu585=) n.2137T>C | |
X | g.18604809T>G | CA412363633 | CDKL5 | c.1885T>G (p.Leu629Val) c.1834T>G (p.Leu612Val) c.1753T>G (p.Leu585Val) n.2137T>G | |
X | g.18604809_18604810dup | CA294683 | CDKL5 | c.1885_1886dup (p.Leu629PhefsTer2) c.1834_1835dup (p.Leu612PhefsTer2) c.1753_1754dup (p.Leu585PhefsTer2) n.2137_2138dup | ClinVar dbSNP |
X | g.18604810T>A | CA412363640 | CDKL5 | c.1886T>A (p.Leu629Ter) c.1835T>A (p.Leu612Ter) c.1754T>A (p.Leu585Ter) n.2138T>A | |
X | g.18604810T>C | CA412363639 | CDKL5 | c.1886T>C (p.Leu629Ser) c.1835T>C (p.Leu612Ser) c.1754T>C (p.Leu585Ser) n.2138T>C | |
X | g.18604810T>G | CA412363638 | CDKL5 | c.1886T>G (p.Leu629Trp) c.1835T>G (p.Leu612Trp) c.1754T>G (p.Leu585Trp) n.2138T>G | |
X | g.18604810_18604836delinsTGAGCATAGGGCAAGGGATGGCAGCTA | CA2417974525 | CDKL5 | c.1886_1912delinsTGAGCATAGGGCAAGGGATGGCAGCTA (p.Leu629=) c.1835_1861delinsTGAGCATAGGGCAAGGGATGGCAGCTA (p.Leu612=) c.1754_1780delinsTGAGCATAGGGCAAGGGATGGCAGCTA (p.Leu585=) n.2138_2164delinsTGAGCATAGGGCAAGGGATGGCAGCTA | |
X | g.18604811G>A | CA515627671 | CDKL5 | c.1887G>A (p.Leu629=) c.1836G>A (p.Leu612=) c.1755G>A (p.Leu585=) n.2139G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604811G>C | CA412363642 | CDKL5 | c.1887G>C (p.Leu629Phe) c.1836G>C (p.Leu612Phe) c.1755G>C (p.Leu585Phe) n.2139G>C | |
X | g.18604811G= | CA2417974526 | CDKL5 | c.1887G= (p.Leu629=) c.1836G= (p.Leu612=) c.1755G= (p.Leu585=) n.2139G= | |
X | g.18604811G>T | CA412363644 | CDKL5 | c.1887G>T (p.Leu629Phe) c.1836G>T (p.Leu612Phe) c.1755G>T (p.Leu585Phe) n.2139G>T | |
X | g.18604815_18604840del | CA200934 | CDKL5 | c.1891_1916del (p.Ile631GlnfsTer?) c.1840_1865del (p.Ile614GlnfsTer?) c.1759_1784del (p.Ile587GlnfsTer?) n.2143_2168del | ClinVar dbSNP |
X | g.18604812A= | CA2417974527 | CDKL5 | c.1888A= (p.Ser630=) c.1837A= (p.Ser613=) c.1756A= (p.Ser586=) n.2140A= | |
X | g.18604812A>C | CA412363648 | CDKL5 | c.1888A>C (p.Ser630Arg) c.1837A>C (p.Ser613Arg) c.1756A>C (p.Ser586Arg) n.2140A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18604812A>G | CA412363649 | CDKL5 | c.1888A>G (p.Ser630Gly) c.1837A>G (p.Ser613Gly) c.1756A>G (p.Ser586Gly) n.2140A>G | |
X | g.18604812A>T | CA412363651 | CDKL5 | c.1888A>T (p.Ser630Cys) c.1837A>T (p.Ser613Cys) c.1756A>T (p.Ser586Cys) n.2140A>T | |
X | g.18604813G>A | CA412363677 | CDKL5 | c.1889G>A (p.Ser630Asn) c.1838G>A (p.Ser613Asn) c.1757G>A (p.Ser586Asn) n.2141G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604813G>C | CA412363673 | CDKL5 | c.1889G>C (p.Ser630Thr) c.1838G>C (p.Ser613Thr) c.1757G>C (p.Ser586Thr) n.2141G>C | |
X | g.18604813G= | CA2417974528 | CDKL5 | c.1889G= (p.Ser630=) c.1838G= (p.Ser613=) c.1757G= (p.Ser586=) n.2141G= | |
X | g.18604813G>T | CA412363654 | CDKL5 | c.1889G>T (p.Ser630Ile) c.1838G>T (p.Ser613Ile) c.1757G>T (p.Ser586Ile) n.2141G>T | |
X | g.18604814C>A | CA412363681 | CDKL5 | c.1890C>A (p.Ser630Arg) c.1839C>A (p.Ser613Arg) c.1758C>A (p.Ser586Arg) n.2142C>A | |
X | g.18604814C= | CA2417974529 | CDKL5 | c.1890C= (p.Ser630=) c.1839C= (p.Ser613=) c.1758C= (p.Ser586=) n.2142C= | |
X | g.18604814C>G | CA412363683 | CDKL5 | c.1890C>G (p.Ser630Arg) c.1839C>G (p.Ser613Arg) c.1758C>G (p.Ser586Arg) n.2142C>G | |
X | g.18604814C>T | CA515627677 | CDKL5 | c.1890C>T (p.Ser630=) c.1839C>T (p.Ser613=) c.1758C>T (p.Ser586=) n.2142C>T | ClinVar dbSNP |
X | g.18604815A= | CA2417974530 | CDKL5 | c.1891A= (p.Ile631=) c.1840A= (p.Ile614=) c.1759A= (p.Ile587=) n.2143A= | |
X | g.18604815A>C | CA412363684 | CDKL5 | c.1891A>C (p.Ile631Leu) c.1840A>C (p.Ile614Leu) c.1759A>C (p.Ile587Leu) n.2143A>C | |
X | g.18604815A>G | CA412363685 | CDKL5 | c.1891A>G (p.Ile631Val) c.1840A>G (p.Ile614Val) c.1759A>G (p.Ile587Val) n.2143A>G | ClinVar dbSNP gnomAD v4 |
X | g.18604815A>T | CA412363686 | CDKL5 | c.1891A>T (p.Ile631Leu) c.1840A>T (p.Ile614Leu) c.1759A>T (p.Ile587Leu) n.2143A>T | |
X | g.18604816_18604817dup | CA170459 | CDKL5 | c.1892_1893dup (p.Gly632Ter) c.1841_1842dup (p.Gly615Ter) c.1760_1761dup (p.Gly588Ter) n.2144_2145dup | ClinVar dbSNP |
X | g.18604816T>A | CA412363690 | CDKL5 | c.1892T>A (p.Ile631Lys) c.1841T>A (p.Ile614Lys) c.1760T>A (p.Ile587Lys) n.2144T>A | |
X | g.18604816T>C | CA170457 | CDKL5 | c.1892T>C (p.Ile631Thr) c.1841T>C (p.Ile614Thr) c.1760T>C (p.Ile587Thr) n.2144T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604816T>G | CA412363695 | CDKL5 | c.1892T>G (p.Ile631Arg) c.1841T>G (p.Ile614Arg) c.1760T>G (p.Ile587Arg) n.2144T>G | |
X | g.18604816T= | CA2417974531 | CDKL5 | c.1892T= (p.Ile631=) c.1841T= (p.Ile614=) c.1760T= (p.Ile587=) n.2144T= | |
X | g.18604817A>C | CA515627679 | CDKL5 | c.1893A>C (p.Ile631=) c.1842A>C (p.Ile614=) c.1761A>C (p.Ile587=) n.2145A>C | |
X | g.18604817A>G | CA412363709 | CDKL5 | c.1893A>G (p.Ile631Met) c.1842A>G (p.Ile614Met) c.1761A>G (p.Ile587Met) n.2145A>G | |
X | g.18604817A>T | CA515627681 | CDKL5 | c.1893A>T (p.Ile631=) c.1842A>T (p.Ile614=) c.1761A>T (p.Ile587=) n.2145A>T | |
X | g.18604818G>A | CA412363711 | CDKL5 | c.1894G>A (p.Gly632Arg) c.1843G>A (p.Gly615Arg) c.1762G>A (p.Gly588Arg) n.2146G>A | |
X | g.18604818G>C | CA412363717 | CDKL5 | c.1894G>C (p.Gly632Arg) c.1843G>C (p.Gly615Arg) c.1762G>C (p.Gly588Arg) n.2146G>C | |
X | g.18604818G>T | CA412363719 | CDKL5 | c.1894G>T (p.Gly632Trp) c.1843G>T (p.Gly615Trp) c.1762G>T (p.Gly588Trp) n.2146G>T | |
X | g.18604820del | CA2573158476 | CDKL5 | c.1896del (p.Gln633LysfsTer25) c.1845del (p.Gln616LysfsTer25) c.1764del (p.Gln589LysfsTer25) n.2148del | ClinVar dbSNP |
X | g.18604819G>A | CA412363730 | CDKL5 | c.1895G>A (p.Gly632Glu) c.1844G>A (p.Gly615Glu) c.1763G>A (p.Gly588Glu) n.2147G>A | ClinVar gnomAD v4 |
X | g.18604819G>C | CA412363735 | CDKL5 | c.1895G>C (p.Gly632Ala) c.1844G>C (p.Gly615Ala) c.1763G>C (p.Gly588Ala) n.2147G>C | |
X | g.18604819G>T | CA412363738 | CDKL5 | c.1895G>T (p.Gly632Val) c.1844G>T (p.Gly615Val) c.1763G>T (p.Gly588Val) n.2147G>T | |
X | g.18604820G>A | CA515627682 | CDKL5 | c.1896G>A (p.Gly632=) c.1845G>A (p.Gly615=) c.1764G>A (p.Gly588=) n.2148G>A | |
X | g.18604820G>C | CA515627684 | CDKL5 | c.1896G>C (p.Gly632=) c.1845G>C (p.Gly615=) c.1764G>C (p.Gly588=) n.2148G>C | |
X | g.18604820G>T | CA515627683 | CDKL5 | c.1896G>T (p.Gly632=) c.1845G>T (p.Gly615=) c.1764G>T (p.Gly588=) n.2148G>T | |
X | g.18604821C>A | CA412363744 | CDKL5 | c.1897C>A (p.Gln633Lys) c.1846C>A (p.Gln616Lys) c.1765C>A (p.Gln589Lys) n.2149C>A | |
X | g.18604821C= | CA2417974532 | CDKL5 | c.1897C= (p.Gln633=) c.1846C= (p.Gln616=) c.1765C= (p.Gln589=) n.2149C= | |
X | g.18604821C>G | CA412363745 | CDKL5 | c.1897C>G (p.Gln633Glu) c.1846C>G (p.Gln616Glu) c.1765C>G (p.Gln589Glu) n.2149C>G | |
X | g.18604821C>T | CA279167 | CDKL5 | c.1897C>T (p.Gln633Ter) c.1846C>T (p.Gln616Ter) c.1765C>T (p.Gln589Ter) n.2149C>T | ClinVar dbSNP |
X | g.18604822A>C | CA412363746 | CDKL5 | c.1898A>C (p.Gln633Pro) c.1847A>C (p.Gln616Pro) c.1766A>C (p.Gln589Pro) n.2150A>C | |
X | g.18604822A>G | CA412363751 | CDKL5 | c.1898A>G (p.Gln633Arg) c.1847A>G (p.Gln616Arg) c.1766A>G (p.Gln589Arg) n.2150A>G | |
X | g.18604822A>T | CA412363748 | CDKL5 | c.1898A>T (p.Gln633Leu) c.1847A>T (p.Gln616Leu) c.1766A>T (p.Gln589Leu) n.2150A>T | |
X | g.18604823A>C | CA412363754 | CDKL5 | c.1899A>C (p.Gln633His) c.1848A>C (p.Gln616His) c.1767A>C (p.Gln589His) n.2151A>C | |
X | g.18604823A>G | CA515627688 | CDKL5 | c.1899A>G (p.Gln633=) c.1848A>G (p.Gln616=) c.1767A>G (p.Gln589=) n.2151A>G | |
X | g.18604823A>T | CA412363756 | CDKL5 | c.1899A>T (p.Gln633His) c.1848A>T (p.Gln616His) c.1767A>T (p.Gln589His) n.2151A>T | |
X | g.18604824G>A | CA412363758 | CDKL5 | c.1900G>A (p.Gly634Arg) c.1849G>A (p.Gly617Arg) c.1768G>A (p.Gly590Arg) n.2152G>A | |
X | g.18604824G>C | CA412363768 | CDKL5 | c.1900G>C (p.Gly634Arg) c.1849G>C (p.Gly617Arg) c.1768G>C (p.Gly590Arg) n.2152G>C | |
X | g.18604824G>T | CA412363771 | CDKL5 | c.1900G>T (p.Gly634Trp) c.1849G>T (p.Gly617Trp) c.1768G>T (p.Gly590Trp) n.2152G>T | |
X | g.18604825G>A | CA412363774 | CDKL5 | c.1901G>A (p.Gly634Glu) c.1850G>A (p.Gly617Glu) c.1769G>A (p.Gly590Glu) n.2153G>A | |
X | g.18604825G>C | CA326987948 | CDKL5 | c.1901G>C (p.Gly634Ala) c.1850G>C (p.Gly617Ala) c.1769G>C (p.Gly590Ala) n.2153G>C | dbSNP |
X | g.18604825G= | CA2417974533 | CDKL5 | c.1901G= (p.Gly634=) c.1850G= (p.Gly617=) c.1769G= (p.Gly590=) n.2153G= | |
X | g.18604825G>T | CA412363778 | CDKL5 | c.1901G>T (p.Gly634Val) c.1850G>T (p.Gly617Val) c.1769G>T (p.Gly590Val) n.2153G>T | |
X | g.18604826G>A | CA515627691 | CDKL5 | c.1902G>A (p.Gly634=) c.1851G>A (p.Gly617=) c.1770G>A (p.Gly590=) n.2154G>A | |
X | g.18604826G>C | CA515627693 | CDKL5 | c.1902G>C (p.Gly634=) c.1851G>C (p.Gly617=) c.1770G>C (p.Gly590=) n.2154G>C | gnomAD v4 |
X | g.18604826G>T | CA515627692 | CDKL5 | c.1902G>T (p.Gly634=) c.1851G>T (p.Gly617=) c.1770G>T (p.Gly590=) n.2154G>T | |
X | g.18604827A>C | CA412363782 | CDKL5 | c.1903A>C (p.Met635Leu) c.1852A>C (p.Met618Leu) c.1771A>C (p.Met591Leu) n.2155A>C | |
X | g.18604827A>G | CA412363804 | CDKL5 | c.1903A>G (p.Met635Val) c.1852A>G (p.Met618Val) c.1771A>G (p.Met591Val) n.2155A>G | |
X | g.18604827A>T | CA412363807 | CDKL5 | c.1903A>T (p.Met635Leu) c.1852A>T (p.Met618Leu) c.1771A>T (p.Met591Leu) n.2155A>T | |
X | g.18604828T>A | CA412363810 | CDKL5 | c.1904T>A (p.Met635Lys) c.1853T>A (p.Met618Lys) c.1772T>A (p.Met591Lys) n.2156T>A | |
X | g.18604828T>C | CA412363813 | CDKL5 | c.1904T>C (p.Met635Thr) c.1853T>C (p.Met618Thr) c.1772T>C (p.Met591Thr) n.2156T>C | |
X | g.18604828T>G | CA412363815 | CDKL5 | c.1904T>G (p.Met635Arg) c.1853T>G (p.Met618Arg) c.1772T>G (p.Met591Arg) n.2156T>G | |
X | g.18604829G>A | CA412363827 | CDKL5 | c.1905G>A (p.Met635Ile) c.1854G>A (p.Met618Ile) c.1773G>A (p.Met591Ile) n.2157G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604829G>C | CA412363824 | CDKL5 | c.1905G>C (p.Met635Ile) c.1854G>C (p.Met618Ile) c.1773G>C (p.Met591Ile) n.2157G>C | |
X | g.18604829G= | CA2417974534 | CDKL5 | c.1905G= (p.Met635=) c.1854G= (p.Met618=) c.1773G= (p.Met591=) n.2157G= | |
X | g.18604829G>T | CA412363818 | CDKL5 | c.1905G>T (p.Met635Ile) c.1854G>T (p.Met618Ile) c.1773G>T (p.Met591Ile) n.2157G>T | |
X | g.18604830del | CA2695231334 | CDKL5 | c.1906del (p.Ala636GlnfsTer22) c.1855del (p.Ala619GlnfsTer22) c.1774del (p.Ala592GlnfsTer22) n.2158del | |
X | g.18604830G>A | CA412363834 | CDKL5 | c.1906G>A (p.Ala636Thr) c.1855G>A (p.Ala619Thr) c.1774G>A (p.Ala592Thr) n.2158G>A | gnomAD v4 |
X | g.18604830G>C | CA412363848 | CDKL5 | c.1906G>C (p.Ala636Pro) c.1855G>C (p.Ala619Pro) c.1774G>C (p.Ala592Pro) n.2158G>C | |
X | g.18604830G= | CA2417974535 | CDKL5 | c.1906G= (p.Ala636=) c.1855G= (p.Ala619=) c.1774G= (p.Ala592=) n.2158G= | |
X | g.18604830G>T | CA412363851 | CDKL5 | c.1906G>T (p.Ala636Ser) c.1855G>T (p.Ala619Ser) c.1774G>T (p.Ala592Ser) n.2158G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.18604831C>A | CA10360426 | CDKL5 | c.1907C>A (p.Ala636Glu) c.1856C>A (p.Ala619Glu) c.1775C>A (p.Ala592Glu) n.2159C>A | dbSNP ExAC gnomAD v2 |
X | g.18604831C= | CA2417974536 | CDKL5 | c.1907C= (p.Ala636=) c.1856C= (p.Ala619=) c.1775C= (p.Ala592=) n.2159C= | |
X | g.18604831C>G | CA412363853 | CDKL5 | c.1907C>G (p.Ala636Gly) c.1856C>G (p.Ala619Gly) c.1775C>G (p.Ala592Gly) n.2159C>G | |
X | g.18604831C>T | CA412363856 | CDKL5 | c.1907C>T (p.Ala636Val) c.1856C>T (p.Ala619Val) c.1775C>T (p.Ala592Val) n.2159C>T | |
X | g.18604832A>C | CA515627697 | CDKL5 | c.1908A>C (p.Ala636=) c.1857A>C (p.Ala619=) c.1776A>C (p.Ala592=) n.2160A>C | |
X | g.18604832A>G | CA515627698 | CDKL5 | c.1908A>G (p.Ala636=) c.1857A>G (p.Ala619=) c.1776A>G (p.Ala592=) n.2160A>G | |
X | g.18604832A>T | CA515627699 | CDKL5 | c.1908A>T (p.Ala636=) c.1857A>T (p.Ala619=) c.1776A>T (p.Ala592=) n.2160A>T | |
X | g.18604832_18604833delinsAG | CA2417974537 | CDKL5 | c.1908_1909delinsAG (p.Ala636=) c.1857_1858delinsAG (p.Ala619=) c.1776_1777delinsAG (p.Ala592=) n.2160_2161delinsAG | |
X | g.18604833del | CA294684 | CDKL5 | c.1909del (p.Ala637LeufsTer21) c.1858del (p.Ala620LeufsTer21) c.1777del (p.Ala593LeufsTer21) n.2161del | ClinVar dbSNP |
X | g.18604833G>A | CA412363859 | CDKL5 | c.1909G>A (p.Ala637Thr) c.1858G>A (p.Ala620Thr) c.1777G>A (p.Ala593Thr) n.2161G>A | |
X | g.18604833G>C | CA412363862 | CDKL5 | c.1909G>C (p.Ala637Pro) c.1858G>C (p.Ala620Pro) c.1777G>C (p.Ala593Pro) n.2161G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18604833G= | CA2417974538 | CDKL5 | c.1909G= (p.Ala637=) c.1858G= (p.Ala620=) c.1777G= (p.Ala593=) n.2161G= | |
X | g.18604833G>T | CA412363864 | CDKL5 | c.1909G>T (p.Ala637Ser) c.1858G>T (p.Ala620Ser) c.1777G>T (p.Ala593Ser) n.2161G>T | |
X | g.18604834C>A | CA412363870 | CDKL5 | c.1910C>A (p.Ala637Asp) c.1859C>A (p.Ala620Asp) c.1778C>A (p.Ala593Asp) n.2162C>A | |
X | g.18604834C= | CA2417974539 | CDKL5 | c.1910C= (p.Ala637=) c.1859C= (p.Ala620=) c.1778C= (p.Ala593=) n.2162C= | |
X | g.18604834C>G | CA10360427 | CDKL5 | c.1910C>G (p.Ala637Gly) c.1859C>G (p.Ala620Gly) c.1778C>G (p.Ala593Gly) n.2162C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604834C>T | CA412363874 | CDKL5 | c.1910C>T (p.Ala637Val) c.1859C>T (p.Ala620Val) c.1778C>T (p.Ala593Val) n.2162C>T | |
X | g.18604835T>A | CA515627701 | CDKL5 | c.1911T>A (p.Ala637=) c.1860T>A (p.Ala620=) c.1779T>A (p.Ala593=) n.2163T>A | |
X | g.18604835T>C | CA515627702 | CDKL5 | c.1911T>C (p.Ala637=) c.1860T>C (p.Ala620=) c.1779T>C (p.Ala593=) n.2163T>C | |
X | g.18604835T>G | CA515627703 | CDKL5 | c.1911T>G (p.Ala637=) c.1860T>G (p.Ala620=) c.1779T>G (p.Ala593=) n.2163T>G | |
X | g.18604836A>C | CA515627704 | CDKL5 | c.1912A>C (p.Arg638=) c.1861A>C (p.Arg621=) c.1780A>C (p.Arg594=) n.2164A>C | |
X | g.18604836A>G | CA412363883 | CDKL5 | c.1912A>G (p.Arg638Gly) c.1861A>G (p.Arg621Gly) c.1780A>G (p.Arg594Gly) n.2164A>G | gnomAD v4 |
X | g.18604836A>T | CA412363880 | CDKL5 | c.1912A>T (p.Arg638Ter) c.1861A>T (p.Arg621Ter) c.1780A>T (p.Arg594Ter) n.2164A>T |