Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.18604692G>A | CA10360416 | CDKL5 | c.1768G>A (p.Glu590Lys) c.1717G>A (p.Glu573Lys) c.1636G>A (p.Glu546Lys) n.2020G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.18604692G>C | CA412362634 | CDKL5 | c.1768G>C (p.Glu590Gln) c.1717G>C (p.Glu573Gln) c.1636G>C (p.Glu546Gln) n.2020G>C | |
X | g.18604692G= | CA2417974493 | CDKL5 | c.1768G= (p.Glu590=) c.1717G= (p.Glu573=) c.1636G= (p.Glu546=) n.2020G= | |
X | g.18604692G>T | CA412362636 | CDKL5 | c.1768G>T (p.Glu590Ter) c.1717G>T (p.Glu573Ter) c.1636G>T (p.Glu546Ter) n.2020G>T | |
X | g.18604693A>C | CA412362639 | CDKL5 | c.1769A>C (p.Glu590Ala) c.1718A>C (p.Glu573Ala) c.1637A>C (p.Glu546Ala) n.2021A>C | |
X | g.18604693A>G | CA412362640 | CDKL5 | c.1769A>G (p.Glu590Gly) c.1718A>G (p.Glu573Gly) c.1637A>G (p.Glu546Gly) n.2021A>G | |
X | g.18604693A>T | CA412362642 | CDKL5 | c.1769A>T (p.Glu590Val) c.1718A>T (p.Glu573Val) c.1637A>T (p.Glu546Val) n.2021A>T | |
X | g.18604694A>C | CA412362644 | CDKL5 | c.1770A>C (p.Glu590Asp) c.1719A>C (p.Glu573Asp) c.1638A>C (p.Glu546Asp) n.2022A>C | |
X | g.18604694A>G | CA515627947 | CDKL5 | c.1770A>G (p.Glu590=) c.1719A>G (p.Glu573=) c.1638A>G (p.Glu546=) n.2022A>G | |
X | g.18604694A>T | CA412362645 | CDKL5 | c.1770A>T (p.Glu590Asp) c.1719A>T (p.Glu573Asp) c.1638A>T (p.Glu546Asp) n.2022A>T | |
X | g.18604694_18604695insCCAAACACACCCAACACA | CA2819902322 | CDKL5 | c.1770_1771insCCAAACACACCCAACACA (p.Glu590_Ser591insProAsnThrProAsnThr) c.1719_1720insCCAAACACACCCAACACA (p.Glu573_Ser574insProAsnThrProAsnThr) c.1638_1639insCCAAACACACCCAACACA (p.Glu546_Ser547insProAsnThrProAsnThr) n.2022_2023insCCAAACACACCCAACACA | |
X | g.18604695T>A | CA412362648 | CDKL5 | c.1771T>A (p.Ser591Thr) c.1720T>A (p.Ser574Thr) c.1639T>A (p.Ser547Thr) n.2023T>A | |
X | g.18604695T>C | CA412362650 | CDKL5 | c.1771T>C (p.Ser591Pro) c.1720T>C (p.Ser574Pro) c.1639T>C (p.Ser547Pro) n.2023T>C | gnomAD v4 |
X | g.18604695T>G | CA412362652 | CDKL5 | c.1771T>G (p.Ser591Ala) c.1720T>G (p.Ser574Ala) c.1639T>G (p.Ser547Ala) n.2023T>G | |
X | g.18604696C>A | CA412362654 | CDKL5 | c.1772C>A (p.Ser591Tyr) c.1721C>A (p.Ser574Tyr) c.1640C>A (p.Ser547Tyr) n.2024C>A | |
X | g.18604696C>G | CA412362656 | CDKL5 | c.1772C>G (p.Ser591Cys) c.1721C>G (p.Ser574Cys) c.1640C>G (p.Ser547Cys) n.2024C>G | ClinVar |
X | g.18604696C>T | CA412362657 | CDKL5 | c.1772C>T (p.Ser591Phe) c.1721C>T (p.Ser574Phe) c.1640C>T (p.Ser547Phe) n.2024C>T | |
X | g.18604696_18604698delinsCTT | CA2417974494 | CDKL5 | c.1772_1774delinsCTT (p.Ser591=) c.1721_1723delinsCTT (p.Ser574=) c.1640_1642delinsCTT (p.Ser547=) n.2024_2026delinsCTT | |
X | g.18604697T>A | CA515627949 | CDKL5 | c.1773T>A (p.Ser591=) c.1722T>A (p.Ser574=) c.1641T>A (p.Ser547=) n.2025T>A | gnomAD v4 |
X | g.18604697T>C | CA515627950 | CDKL5 | c.1773T>C (p.Ser591=) c.1722T>C (p.Ser574=) c.1641T>C (p.Ser547=) n.2025T>C | |
X | g.18604697T>G | CA515627951 | CDKL5 | c.1773T>G (p.Ser591=) c.1722T>G (p.Ser574=) c.1641T>G (p.Ser547=) n.2025T>G | |
X | g.18604701del | CA16621279 | CDKL5 | c.1777del (p.Ser593LeufsTer23) c.1726del (p.Ser576LeufsTer23) c.1645del (p.Ser549LeufsTer23) n.2029del | ClinVar dbSNP |
X | g.18604700_18604701del | CA16621278 | CDKL5 | c.1776_1777del (p.Ser593LeufsTer17) c.1725_1726del (p.Ser576LeufsTer17) c.1644_1645del (p.Ser549LeufsTer17) n.2028_2029del | ClinVar dbSNP |
X | g.18604698T>A | CA412362660 | CDKL5 | c.1774T>A (p.Phe592Ile) c.1723T>A (p.Phe575Ile) c.1642T>A (p.Phe548Ile) n.2026T>A | |
X | g.18604698T>C | CA412362664 | CDKL5 | c.1774T>C (p.Phe592Leu) c.1723T>C (p.Phe575Leu) c.1642T>C (p.Phe548Leu) n.2026T>C | |
X | g.18604698T>G | CA412362661 | CDKL5 | c.1774T>G (p.Phe592Val) c.1723T>G (p.Phe575Val) c.1642T>G (p.Phe548Val) n.2026T>G | |
X | g.18604699T>A | CA412362666 | CDKL5 | c.1775T>A (p.Phe592Tyr) c.1724T>A (p.Phe575Tyr) c.1643T>A (p.Phe548Tyr) n.2027T>A | |
X | g.18604699T>C | CA412362667 | CDKL5 | c.1775T>C (p.Phe592Ser) c.1724T>C (p.Phe575Ser) c.1643T>C (p.Phe548Ser) n.2027T>C | |
X | g.18604699T>G | CA412362668 | CDKL5 | c.1775T>G (p.Phe592Cys) c.1724T>G (p.Phe575Cys) c.1643T>G (p.Phe548Cys) n.2027T>G | |
X | g.18604700T>A | CA412362670 | CDKL5 | c.1776T>A (p.Phe592Leu) c.1725T>A (p.Phe575Leu) c.1644T>A (p.Phe548Leu) n.2028T>A | |
X | g.18604700T>C | CA515627953 | CDKL5 | c.1776T>C (p.Phe592=) c.1725T>C (p.Phe575=) c.1644T>C (p.Phe548=) n.2028T>C | |
X | g.18604700T>G | CA412362672 | CDKL5 | c.1776T>G (p.Phe592Leu) c.1725T>G (p.Phe575Leu) c.1644T>G (p.Phe548Leu) n.2028T>G | |
X | g.18604701T>A | CA412362674 | CDKL5 | c.1777T>A (p.Ser593Thr) c.1726T>A (p.Ser576Thr) c.1645T>A (p.Ser549Thr) n.2029T>A | |
X | g.18604701T>C | CA412362675 | CDKL5 | c.1777T>C (p.Ser593Pro) c.1726T>C (p.Ser576Pro) c.1645T>C (p.Ser549Pro) n.2029T>C | |
X | g.18604701T>G | CA412362677 | CDKL5 | c.1777T>G (p.Ser593Ala) c.1726T>G (p.Ser576Ala) c.1645T>G (p.Ser549Ala) n.2029T>G | |
X | g.18604702C>A | CA412362680 | CDKL5 | c.1778C>A (p.Ser593Tyr) c.1727C>A (p.Ser576Tyr) c.1646C>A (p.Ser549Tyr) n.2030C>A | COSMIC |
X | g.18604702C>G | CA412362682 | CDKL5 | c.1778C>G (p.Ser593Cys) c.1727C>G (p.Ser576Cys) c.1646C>G (p.Ser549Cys) n.2030C>G | |
X | g.18604702C>T | CA412362684 | CDKL5 | c.1778C>T (p.Ser593Phe) c.1727C>T (p.Ser576Phe) c.1646C>T (p.Ser549Phe) n.2030C>T | |
X | g.18604703T>A | CA515627959 | CDKL5 | c.1779T>A (p.Ser593=) c.1728T>A (p.Ser576=) c.1647T>A (p.Ser549=) n.2031T>A | |
X | g.18604703T>C | CA515627960 | CDKL5 | c.1779T>C (p.Ser593=) c.1728T>C (p.Ser576=) c.1647T>C (p.Ser549=) n.2031T>C | |
X | g.18604703T>G | CA515627958 | CDKL5 | c.1779T>G (p.Ser593=) c.1728T>G (p.Ser576=) c.1647T>G (p.Ser549=) n.2031T>G | |
X | g.18604704T>A | CA412362688 | CDKL5 | c.1780T>A (p.Tyr594Asn) c.1729T>A (p.Tyr577Asn) c.1648T>A (p.Tyr550Asn) n.2032T>A | |
X | g.18604704T>C | CA412362690 | CDKL5 | c.1780T>C (p.Tyr594His) c.1729T>C (p.Tyr577His) c.1648T>C (p.Tyr550His) n.2032T>C | |
X | g.18604704T>G | CA412362686 | CDKL5 | c.1780T>G (p.Tyr594Asp) c.1729T>G (p.Tyr577Asp) c.1648T>G (p.Tyr550Asp) n.2032T>G | |
X | g.18604705A>C | CA412362693 | CDKL5 | c.1781A>C (p.Tyr594Ser) c.1730A>C (p.Tyr577Ser) c.1649A>C (p.Tyr550Ser) n.2033A>C | |
X | g.18604705A>G | CA412362695 | CDKL5 | c.1781A>G (p.Tyr594Cys) c.1730A>G (p.Tyr577Cys) c.1649A>G (p.Tyr550Cys) n.2033A>G | |
X | g.18604705A>T | CA412362697 | CDKL5 | c.1781A>T (p.Tyr594Phe) c.1730A>T (p.Tyr577Phe) c.1649A>T (p.Tyr550Phe) n.2033A>T | |
X | g.18604706T>A | CA412362700 | CDKL5 | c.1782T>A (p.Tyr594Ter) c.1731T>A (p.Tyr577Ter) c.1650T>A (p.Tyr550Ter) n.2034T>A | |
X | g.18604706T>C | CA10360417 | CDKL5 | c.1782T>C (p.Tyr594=) c.1731T>C (p.Tyr577=) c.1650T>C (p.Tyr550=) n.2034T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604706T>G | CA412362704 | CDKL5 | c.1782T>G (p.Tyr594Ter) c.1731T>G (p.Tyr577Ter) c.1650T>G (p.Tyr550Ter) n.2034T>G | |
X | g.18604706T= | CA2417974495 | CDKL5 | c.1782T= (p.Tyr594=) c.1731T= (p.Tyr577=) c.1650T= (p.Tyr550=) n.2034T= | |
X | g.18604707G>A | CA412362707 | CDKL5 | c.1783G>A (p.Gly595Arg) c.1732G>A (p.Gly578Arg) c.1651G>A (p.Gly551Arg) n.2035G>A | dbSNP gnomAD v3 gnomAD v4 |
X | g.18604707G>C | CA412362710 | CDKL5 | c.1783G>C (p.Gly595Arg) c.1732G>C (p.Gly578Arg) c.1651G>C (p.Gly551Arg) n.2035G>C | |
X | g.18604707G= | CA2417974496 | CDKL5 | c.1783G= (p.Gly595=) c.1732G= (p.Gly578=) c.1651G= (p.Gly551=) n.2035G= | |
X | g.18604707G>T | CA412362713 | CDKL5 | c.1783G>T (p.Gly595Ter) c.1732G>T (p.Gly578Ter) c.1651G>T (p.Gly551Ter) n.2035G>T | |
X | g.18604708dup | CA199383 | CDKL5 | c.1784dup (p.Leu596ThrfsTer15) c.1733dup (p.Leu579ThrfsTer15) c.1652dup (p.Leu552ThrfsTer15) n.2036dup | ClinVar dbSNP |
X | g.18604708G>A | CA412362716 | CDKL5 | c.1784G>A (p.Gly595Glu) c.1733G>A (p.Gly578Glu) c.1652G>A (p.Gly551Glu) n.2036G>A | dbSNP gnomAD v3 gnomAD v4 |
X | g.18604708G>C | CA412362720 | CDKL5 | c.1784G>C (p.Gly595Ala) c.1733G>C (p.Gly578Ala) c.1652G>C (p.Gly551Ala) n.2036G>C | |
X | g.18604708G= | CA2417974497 | CDKL5 | c.1784G= (p.Gly595=) c.1733G= (p.Gly578=) c.1652G= (p.Gly551=) n.2036G= | |
X | g.18604708G>T | CA412362722 | CDKL5 | c.1784G>T (p.Gly595Val) c.1733G>T (p.Gly578Val) c.1652G>T (p.Gly551Val) n.2036G>T | |
X | g.18604709del | CA2695231322 | CDKL5 | c.1785del (p.Leu596TrpfsTer20) c.1734del (p.Leu579TrpfsTer20) c.1653del (p.Leu552TrpfsTer20) n.2037del | |
X | g.18604709A>C | CA515627963 | CDKL5 | c.1785A>C (p.Gly595=) c.1734A>C (p.Gly578=) c.1653A>C (p.Gly551=) n.2037A>C | |
X | g.18604709A>G | CA515627964 | CDKL5 | c.1785A>G (p.Gly595=) c.1734A>G (p.Gly578=) c.1653A>G (p.Gly551=) n.2037A>G | |
X | g.18604709A>T | CA515627965 | CDKL5 | c.1785A>T (p.Gly595=) c.1734A>T (p.Gly578=) c.1653A>T (p.Gly551=) n.2037A>T | |
X | g.18604710C>A | CA412362729 | CDKL5 | c.1786C>A (p.Leu596Met) c.1735C>A (p.Leu579Met) c.1654C>A (p.Leu552Met) n.2038C>A | |
X | g.18604710C= | CA2417974498 | CDKL5 | c.1786C= (p.Leu596=) c.1735C= (p.Leu579=) c.1654C= (p.Leu552=) n.2038C= | |
X | g.18604710C>G | CA412362732 | CDKL5 | c.1786C>G (p.Leu596Val) c.1735C>G (p.Leu579Val) c.1654C>G (p.Leu552Val) n.2038C>G | |
X | g.18604710C>T | CA10360418 | CDKL5 | c.1786C>T (p.Leu596=) c.1735C>T (p.Leu579=) c.1654C>T (p.Leu552=) n.2038C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604711T>A | CA412362735 | CDKL5 | c.1787T>A (p.Leu596Gln) c.1736T>A (p.Leu579Gln) c.1655T>A (p.Leu552Gln) n.2039T>A | |
X | g.18604711T>C | CA412362736 | CDKL5 | c.1787T>C (p.Leu596Pro) c.1736T>C (p.Leu579Pro) c.1655T>C (p.Leu552Pro) n.2039T>C | |
X | g.18604711T>G | CA412362740 | CDKL5 | c.1787T>G (p.Leu596Arg) c.1736T>G (p.Leu579Arg) c.1655T>G (p.Leu552Arg) n.2039T>G | |
X | g.18604712G>A | CA515627968 | CDKL5 | c.1788G>A (p.Leu596=) c.1737G>A (p.Leu579=) c.1656G>A (p.Leu552=) n.2040G>A | |
X | g.18604712G>C | CA515627971 | CDKL5 | c.1788G>C (p.Leu596=) c.1737G>C (p.Leu579=) c.1656G>C (p.Leu552=) n.2040G>C | |
X | g.18604712G>T | CA515627973 | CDKL5 | c.1788G>T (p.Leu596=) c.1737G>T (p.Leu579=) c.1656G>T (p.Leu552=) n.2040G>T | COSMIC |
X | g.18604714dup | CA2695231323 | CDKL5 | c.1790dup (p.Tyr598LeufsTer13) c.1739dup (p.Tyr581LeufsTer13) c.1658dup (p.Tyr554LeufsTer13) n.2042dup | |
X | g.18604714del | CA2580100477 | CDKL5 | c.1790del (p.Gly597AlafsTer19) c.1739del (p.Gly580AlafsTer19) c.1658del (p.Gly553AlafsTer19) n.2042del | ClinVar |
X | g.18604713G>A | CA412362744 | CDKL5 | c.1789G>A (p.Gly597Ser) c.1738G>A (p.Gly580Ser) c.1657G>A (p.Gly553Ser) n.2041G>A | |
X | g.18604713G>C | CA412362747 | CDKL5 | c.1789G>C (p.Gly597Arg) c.1738G>C (p.Gly580Arg) c.1657G>C (p.Gly553Arg) n.2041G>C | |
X | g.18604713G>T | CA412362750 | CDKL5 | c.1789G>T (p.Gly597Cys) c.1738G>T (p.Gly580Cys) c.1657G>T (p.Gly553Cys) n.2041G>T | dbSNP |
X | g.18604714G>A | CA412362761 | CDKL5 | c.1790G>A (p.Gly597Asp) c.1739G>A (p.Gly580Asp) c.1658G>A (p.Gly553Asp) n.2042G>A | |
X | g.18604714G>C | CA412362754 | CDKL5 | c.1790G>C (p.Gly597Ala) c.1739G>C (p.Gly580Ala) c.1658G>C (p.Gly553Ala) n.2042G>C | |
X | g.18604714G>T | CA412362757 | CDKL5 | c.1790G>T (p.Gly597Val) c.1739G>T (p.Gly580Val) c.1658G>T (p.Gly553Val) n.2042G>T | |
X | g.18604715del | CA2695231325 | CDKL5 | c.1791del (p.Tyr598ThrfsTer18) c.1740del (p.Tyr581ThrfsTer18) c.1659del (p.Tyr554ThrfsTer18) n.2043del | |
X | g.18604715C>A | CA515627975 | CDKL5 | c.1791C>A (p.Gly597=) c.1740C>A (p.Gly580=) c.1659C>A (p.Gly553=) n.2043C>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604715C= | CA2417974499 | CDKL5 | c.1791C= (p.Gly597=) c.1740C= (p.Gly580=) c.1659C= (p.Gly553=) n.2043C= | |
X | g.18604715C>G | CA515627976 | CDKL5 | c.1791C>G (p.Gly597=) c.1740C>G (p.Gly580=) c.1659C>G (p.Gly553=) n.2043C>G | |
X | g.18604715C>T | CA515627978 | CDKL5 | c.1791C>T (p.Gly597=) c.1740C>T (p.Gly580=) c.1659C>T (p.Gly553=) n.2043C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604716T>A | CA412362765 | CDKL5 | c.1792T>A (p.Tyr598Asn) c.1741T>A (p.Tyr581Asn) c.1660T>A (p.Tyr554Asn) n.2044T>A | |
X | g.18604716T>C | CA412362767 | CDKL5 | c.1792T>C (p.Tyr598His) c.1741T>C (p.Tyr581His) c.1660T>C (p.Tyr554His) n.2044T>C | |
X | g.18604716T>G | CA412362770 | CDKL5 | c.1792T>G (p.Tyr598Asp) c.1741T>G (p.Tyr581Asp) c.1660T>G (p.Tyr554Asp) n.2044T>G | |
X | g.18604717A>C | CA412362772 | CDKL5 | c.1793A>C (p.Tyr598Ser) c.1742A>C (p.Tyr581Ser) c.1661A>C (p.Tyr554Ser) n.2045A>C | |
X | g.18604717A>G | CA412362774 | CDKL5 | c.1793A>G (p.Tyr598Cys) c.1742A>G (p.Tyr581Cys) c.1661A>G (p.Tyr554Cys) n.2045A>G | |
X | g.18604717A>T | CA412362777 | CDKL5 | c.1793A>T (p.Tyr598Phe) c.1742A>T (p.Tyr581Phe) c.1661A>T (p.Tyr554Phe) n.2045A>T | |
X | g.18604718C>A | CA412362781 | CDKL5 | c.1794C>A (p.Tyr598Ter) c.1743C>A (p.Tyr581Ter) c.1662C>A (p.Tyr554Ter) n.2046C>A | |
X | g.18604718C= | CA2417974500 | CDKL5 | c.1794C= (p.Tyr598=) c.1743C= (p.Tyr581=) c.1662C= (p.Tyr554=) n.2046C= | |
X | g.18604718C>G | CA412362783 | CDKL5 | c.1794C>G (p.Tyr598Ter) c.1743C>G (p.Tyr581Ter) c.1662C>G (p.Tyr554Ter) n.2046C>G | |
X | g.18604718C>T | CA515627986 | CDKL5 | c.1794C>T (p.Tyr598=) c.1743C>T (p.Tyr581=) c.1662C>T (p.Tyr554=) n.2046C>T | |
X | g.18604719A= | CA2417974501 | CDKL5 | c.1795A= (p.Thr599=) c.1744A= (p.Thr582=) c.1663A= (p.Thr555=) n.2047A= | |
X | g.18604719A>C | CA10360419 | CDKL5 | c.1795A>C (p.Thr599Pro) c.1744A>C (p.Thr582Pro) c.1663A>C (p.Thr555Pro) n.2047A>C | dbSNP ExAC gnomAD v2 |
X | g.18604719A>G | CA16621280 | CDKL5 | c.1795A>G (p.Thr599Ala) c.1744A>G (p.Thr582Ala) c.1663A>G (p.Thr555Ala) n.2047A>G | ClinVar dbSNP gnomAD v4 |
X | g.18604719A>T | CA412362788 | CDKL5 | c.1795A>T (p.Thr599Ser) c.1744A>T (p.Thr582Ser) c.1663A>T (p.Thr555Ser) n.2047A>T | |
X | g.18604719dup | CA294682 | CDKL5 | c.1795dup (p.Thr599AsnfsTer12) c.1744dup (p.Thr582AsnfsTer12) c.1663dup (p.Thr555AsnfsTer12) n.2047dup | ClinVar dbSNP |
X | g.18604720C>A | CA412362794 | CDKL5 | c.1796C>A (p.Thr599Asn) c.1745C>A (p.Thr582Asn) c.1664C>A (p.Thr555Asn) n.2048C>A | |
X | g.18604720C>G | CA412362798 | CDKL5 | c.1796C>G (p.Thr599Ser) c.1745C>G (p.Thr582Ser) c.1664C>G (p.Thr555Ser) n.2048C>G | gnomAD v4 |
X | g.18604720C>T | CA412362796 | CDKL5 | c.1796C>T (p.Thr599Ile) c.1745C>T (p.Thr582Ile) c.1664C>T (p.Thr555Ile) n.2048C>T | |
X | g.18604721dup | CA171620 | CDKL5 | c.1797dup (p.Ser600GlnfsTer11) c.1746dup (p.Ser583GlnfsTer11) c.1665dup (p.Ser556GlnfsTer11) n.2049dup | ClinVar dbSNP |
X | g.18604721C>A | CA515627988 | CDKL5 | c.1797C>A (p.Thr599=) c.1746C>A (p.Thr582=) c.1665C>A (p.Thr555=) n.2049C>A | |
X | g.18604721C= | CA2417974502 | CDKL5 | c.1797C= (p.Thr599=) c.1746C= (p.Thr582=) c.1665C= (p.Thr555=) n.2049C= | |
X | g.18604721C>G | CA147629 | CDKL5 | c.1797C>G (p.Thr599=) c.1746C>G (p.Thr582=) c.1665C>G (p.Thr555=) n.2049C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604721C>T | CA515627990 | CDKL5 | c.1797C>T (p.Thr599=) c.1746C>T (p.Thr582=) c.1665C>T (p.Thr555=) n.2049C>T | |
X | g.18604722A>C | CA412362805 | CDKL5 | c.1798A>C (p.Ser600Arg) c.1747A>C (p.Ser583Arg) c.1666A>C (p.Ser556Arg) n.2050A>C | |
X | g.18604722A>G | CA412362808 | CDKL5 | c.1798A>G (p.Ser600Gly) c.1747A>G (p.Ser583Gly) c.1666A>G (p.Ser556Gly) n.2050A>G | |
X | g.18604722A>T | CA412362810 | CDKL5 | c.1798A>T (p.Ser600Cys) c.1747A>T (p.Ser583Cys) c.1666A>T (p.Ser556Cys) n.2050A>T | |
X | g.18604723G>A | CA412362812 | CDKL5 | c.1799G>A (p.Ser600Asn) c.1748G>A (p.Ser583Asn) c.1667G>A (p.Ser556Asn) n.2051G>A | |
X | g.18604723G>C | CA412362816 | CDKL5 | c.1799G>C (p.Ser600Thr) c.1748G>C (p.Ser583Thr) c.1667G>C (p.Ser556Thr) n.2051G>C | |
X | g.18604723G>T | CA412362819 | CDKL5 | c.1799G>T (p.Ser600Ile) c.1748G>T (p.Ser583Ile) c.1667G>T (p.Ser556Ile) n.2051G>T | ClinVar dbSNP |
X | g.18604724C>A | CA10360421 | CDKL5 | c.1800C>A (p.Ser600Arg) c.1749C>A (p.Ser583Arg) c.1668C>A (p.Ser556Arg) n.2052C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604724C= | CA2417974503 | CDKL5 | c.1800C= (p.Ser600=) c.1749C= (p.Ser583=) c.1668C= (p.Ser556=) n.2052C= | |
X | g.18604724C>G | CA412362824 | CDKL5 | c.1800C>G (p.Ser600Arg) c.1749C>G (p.Ser583Arg) c.1668C>G (p.Ser556Arg) n.2052C>G | |
X | g.18604724C>T | CA10360420 | CDKL5 | c.1800C>T (p.Ser600=) c.1749C>T (p.Ser583=) c.1668C>T (p.Ser556=) n.2052C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604725C>A | CA412362830 | CDKL5 | c.1801C>A (p.Pro601Thr) c.1750C>A (p.Pro584Thr) c.1669C>A (p.Pro557Thr) n.2053C>A | |
X | g.18604725C>G | CA412362832 | CDKL5 | c.1801C>G (p.Pro601Ala) c.1750C>G (p.Pro584Ala) c.1669C>G (p.Pro557Ala) n.2053C>G | |
X | g.18604725C>T | CA412362835 | CDKL5 | c.1801C>T (p.Pro601Ser) c.1750C>T (p.Pro584Ser) c.1669C>T (p.Pro557Ser) n.2053C>T | dbSNP |
X | g.18604726C>A | CA412362837 | CDKL5 | c.1802C>A (p.Pro601His) c.1751C>A (p.Pro584His) c.1670C>A (p.Pro557His) n.2054C>A | |
X | g.18604726C>G | CA412362842 | CDKL5 | c.1802C>G (p.Pro601Arg) c.1751C>G (p.Pro584Arg) c.1670C>G (p.Pro557Arg) n.2054C>G | |
X | g.18604726C>T | CA412362839 | CDKL5 | c.1802C>T (p.Pro601Leu) c.1751C>T (p.Pro584Leu) c.1670C>T (p.Pro557Leu) n.2054C>T | dbSNP |
X | g.18604727C>A | CA515627998 | CDKL5 | c.1803C>A (p.Pro601=) c.1752C>A (p.Pro584=) c.1671C>A (p.Pro557=) n.2055C>A | dbSNP |
X | g.18604727C= | CA2417974504 | CDKL5 | c.1803C= (p.Pro601=) c.1752C= (p.Pro584=) c.1671C= (p.Pro557=) n.2055C= | |
X | g.18604727C>G | CA515628000 | CDKL5 | c.1803C>G (p.Pro601=) c.1752C>G (p.Pro584=) c.1671C>G (p.Pro557=) n.2055C>G | ClinVar gnomAD v4 |
X | g.18604727C>T | CA10360422 | CDKL5 | c.1803C>T (p.Pro601=) c.1752C>T (p.Pro584=) c.1671C>T (p.Pro557=) n.2055C>T | dbSNP ExAC gnomAD v4 |
X | g.18604728T>A | CA412362848 | CDKL5 | c.1804T>A (p.Phe602Ile) c.1753T>A (p.Phe585Ile) c.1672T>A (p.Phe558Ile) n.2056T>A | |
X | g.18604728T>C | CA412362851 | CDKL5 | c.1804T>C (p.Phe602Leu) c.1753T>C (p.Phe585Leu) c.1672T>C (p.Phe558Leu) n.2056T>C | |
X | g.18604728T>G | CA412362853 | CDKL5 | c.1804T>G (p.Phe602Val) c.1753T>G (p.Phe585Val) c.1672T>G (p.Phe558Val) n.2056T>G | |
X | g.18604729T>A | CA412362857 | CDKL5 | c.1805T>A (p.Phe602Tyr) c.1754T>A (p.Phe585Tyr) c.1673T>A (p.Phe558Tyr) n.2057T>A | |
X | g.18604729T>C | CA412362859 | CDKL5 | c.1805T>C (p.Phe602Ser) c.1754T>C (p.Phe585Ser) c.1673T>C (p.Phe558Ser) n.2057T>C | |
X | g.18604729T>G | CA412362861 | CDKL5 | c.1805T>G (p.Phe602Cys) c.1754T>G (p.Phe585Cys) c.1673T>G (p.Phe558Cys) n.2057T>G | |
X | g.18604730T>A | CA412362869 | CDKL5 | c.1806T>A (p.Phe602Leu) c.1755T>A (p.Phe585Leu) c.1674T>A (p.Phe558Leu) n.2058T>A | |
X | g.18604730T>C | CA515628009 | CDKL5 | c.1806T>C (p.Phe602=) c.1755T>C (p.Phe585=) c.1674T>C (p.Phe558=) n.2058T>C | |
X | g.18604730T>G | CA412362872 | CDKL5 | c.1806T>G (p.Phe602Leu) c.1755T>G (p.Phe585Leu) c.1674T>G (p.Phe558Leu) n.2058T>G | |
X | g.18604731T>A | CA412362881 | CDKL5 | c.1807T>A (p.Ser603Thr) c.1756T>A (p.Ser586Thr) c.1675T>A (p.Ser559Thr) n.2059T>A | |
X | g.18604731T>C | CA412362879 | CDKL5 | c.1807T>C (p.Ser603Pro) c.1756T>C (p.Ser586Pro) c.1675T>C (p.Ser559Pro) n.2059T>C | |
X | g.18604731T>G | CA412362877 | CDKL5 | c.1807T>G (p.Ser603Ala) c.1756T>G (p.Ser586Ala) c.1675T>G (p.Ser559Ala) n.2059T>G | |
X | g.18604732C>A | CA412362884 | CDKL5 | c.1808C>A (p.Ser603Tyr) c.1757C>A (p.Ser586Tyr) c.1676C>A (p.Ser559Tyr) n.2060C>A | |
X | g.18604732C>G | CA412362886 | CDKL5 | c.1808C>G (p.Ser603Cys) c.1757C>G (p.Ser586Cys) c.1676C>G (p.Ser559Cys) n.2060C>G | |
X | g.18604732C>T | CA412362888 | CDKL5 | c.1808C>T (p.Ser603Phe) c.1757C>T (p.Ser586Phe) c.1676C>T (p.Ser559Phe) n.2060C>T | COSMIC |
X | g.18604733T>A | CA515628015 | CDKL5 | c.1809T>A (p.Ser603=) c.1758T>A (p.Ser586=) c.1677T>A (p.Ser559=) n.2061T>A | |
X | g.18604733T>C | CA515628016 | CDKL5 | c.1809T>C (p.Ser603=) c.1758T>C (p.Ser586=) c.1677T>C (p.Ser559=) n.2061T>C | |
X | g.18604733T>G | CA515628017 | CDKL5 | c.1809T>G (p.Ser603=) c.1758T>G (p.Ser586=) c.1677T>G (p.Ser559=) n.2061T>G | |
X | g.18604734T>A | CA412362890 | CDKL5 | c.1810T>A (p.Ser604Thr) c.1759T>A (p.Ser587Thr) c.1678T>A (p.Ser560Thr) n.2062T>A | |
X | g.18604734T>C | CA412362893 | CDKL5 | c.1810T>C (p.Ser604Pro) c.1759T>C (p.Ser587Pro) c.1678T>C (p.Ser560Pro) n.2062T>C | COSMIC |
X | g.18604734T>G | CA412362896 | CDKL5 | c.1810T>G (p.Ser604Ala) c.1759T>G (p.Ser587Ala) c.1678T>G (p.Ser560Ala) n.2062T>G | |
X | g.18604735C>A | CA412362899 | CDKL5 | c.1811C>A (p.Ser604Tyr) c.1760C>A (p.Ser587Tyr) c.1679C>A (p.Ser560Tyr) n.2063C>A | |
X | g.18604735C>G | CA412362902 | CDKL5 | c.1811C>G (p.Ser604Cys) c.1760C>G (p.Ser587Cys) c.1679C>G (p.Ser560Cys) n.2063C>G | |
X | g.18604735C>T | CA412362905 | CDKL5 | c.1811C>T (p.Ser604Phe) c.1760C>T (p.Ser587Phe) c.1679C>T (p.Ser560Phe) n.2063C>T | |
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 |