Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.18604496G>A | CA515627746 | CDKL5 | c.1572G>A (p.Leu524=) c.1521G>A (p.Leu507=) c.1440G>A (p.Leu480=) n.1824G>A | gnomAD v4 COSMIC |
X | g.18604496G>C | CA412361706 | CDKL5 | c.1572G>C (p.Leu524Phe) c.1521G>C (p.Leu507Phe) c.1440G>C (p.Leu480Phe) n.1824G>C | |
X | g.18604496G>T | CA412361703 | CDKL5 | c.1572G>T (p.Leu524Phe) c.1521G>T (p.Leu507Phe) c.1440G>T (p.Leu480Phe) n.1824G>T | |
X | g.18604497A>C | CA412361709 | CDKL5 | c.1573A>C (p.Asn525His) c.1522A>C (p.Asn508His) c.1441A>C (p.Asn481His) n.1825A>C | |
X | g.18604497A>G | CA412361712 | CDKL5 | c.1573A>G (p.Asn525Asp) c.1522A>G (p.Asn508Asp) c.1441A>G (p.Asn481Asp) n.1825A>G | |
X | g.18604497A>T | CA412361714 | CDKL5 | c.1573A>T (p.Asn525Tyr) c.1522A>T (p.Asn508Tyr) c.1441A>T (p.Asn481Tyr) n.1825A>T | |
X | g.18604498A= | CA2417974426 | CDKL5 | c.1574A= (p.Asn525=) c.1523A= (p.Asn508=) c.1442A= (p.Asn481=) n.1826A= | |
X | g.18604498A>C | CA412361717 | CDKL5 | c.1574A>C (p.Asn525Thr) c.1523A>C (p.Asn508Thr) c.1442A>C (p.Asn481Thr) n.1826A>C | |
X | g.18604498A>G | CA326987833 | CDKL5 | c.1574A>G (p.Asn525Ser) c.1523A>G (p.Asn508Ser) c.1442A>G (p.Asn481Ser) n.1826A>G | dbSNP |
X | g.18604498A>T | CA412361720 | CDKL5 | c.1574A>T (p.Asn525Ile) c.1523A>T (p.Asn508Ile) c.1442A>T (p.Asn481Ile) n.1826A>T | |
X | g.18604499T>A | CA412361726 | CDKL5 | c.1575T>A (p.Asn525Lys) c.1524T>A (p.Asn508Lys) c.1443T>A (p.Asn481Lys) n.1827T>A | |
X | g.18604499T>C | CA515627750 | CDKL5 | c.1575T>C (p.Asn525=) c.1524T>C (p.Asn508=) c.1443T>C (p.Asn481=) n.1827T>C | |
X | g.18604499T>G | CA412361723 | CDKL5 | c.1575T>G (p.Asn525Lys) c.1524T>G (p.Asn508Lys) c.1443T>G (p.Asn481Lys) n.1827T>G | |
X | g.18604500T>A | CA412361729 | CDKL5 | c.1576T>A (p.Ser526Thr) c.1525T>A (p.Ser509Thr) c.1444T>A (p.Ser482Thr) n.1828T>A | |
X | g.18604500T>C | CA412361732 | CDKL5 | c.1576T>C (p.Ser526Pro) c.1525T>C (p.Ser509Pro) c.1444T>C (p.Ser482Pro) n.1828T>C | |
X | g.18604500T>G | CA412361740 | CDKL5 | c.1576T>G (p.Ser526Ala) c.1525T>G (p.Ser509Ala) c.1444T>G (p.Ser482Ala) n.1828T>G | gnomAD v4 |
X | g.18604501C>A | CA412361744 | CDKL5 | c.1577C>A (p.Ser526Tyr) c.1526C>A (p.Ser509Tyr) c.1445C>A (p.Ser482Tyr) n.1829C>A | |
X | g.18604501C= | CA2417974427 | CDKL5 | c.1577C= (p.Ser526=) c.1526C= (p.Ser509=) c.1445C= (p.Ser482=) n.1829C= | |
X | g.18604501C>G | CA412361746 | CDKL5 | c.1577C>G (p.Ser526Cys) c.1526C>G (p.Ser509Cys) c.1445C>G (p.Ser482Cys) n.1829C>G | gnomAD v4 |
X | g.18604501C>T | CA412361749 | CDKL5 | c.1577C>T (p.Ser526Phe) c.1526C>T (p.Ser509Phe) c.1445C>T (p.Ser482Phe) n.1829C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.18604502T>A | CA515627757 | CDKL5 | c.1578T>A (p.Ser526=) c.1527T>A (p.Ser509=) c.1446T>A (p.Ser482=) n.1830T>A | |
X | g.18604502T>C | CA515627758 | CDKL5 | c.1578T>C (p.Ser526=) c.1527T>C (p.Ser509=) c.1446T>C (p.Ser482=) n.1830T>C | dbSNP gnomAD v4 |
X | g.18604502T>G | CA515627759 | CDKL5 | c.1578T>G (p.Ser526=) c.1527T>G (p.Ser509=) c.1446T>G (p.Ser482=) n.1830T>G | |
X | g.18604502T= | CA2417974428 | CDKL5 | c.1578T= (p.Ser526=) c.1527T= (p.Ser509=) c.1446T= (p.Ser482=) n.1830T= | |
X | g.18604503C>A | CA412361752 | CDKL5 | c.1579C>A (p.Pro527Thr) c.1528C>A (p.Pro510Thr) c.1447C>A (p.Pro483Thr) n.1831C>A | |
X | g.18604503C= | CA2417974429 | CDKL5 | c.1579C= (p.Pro527=) c.1528C= (p.Pro510=) c.1447C= (p.Pro483=) n.1831C= | |
X | g.18604503C>G | CA412361759 | CDKL5 | c.1579C>G (p.Pro527Ala) c.1528C>G (p.Pro510Ala) c.1447C>G (p.Pro483Ala) n.1831C>G | |
X | g.18604503C>T | CA412361753 | CDKL5 | c.1579C>T (p.Pro527Ser) c.1528C>T (p.Pro510Ser) c.1447C>T (p.Pro483Ser) n.1831C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604505del | CA2695231302 | CDKL5 | c.1581del (p.Thr528ProfsTer?) c.1530del (p.Thr511ProfsTer?) c.1449del (p.Thr484ProfsTer?) n.1833del | |
X | g.18604504C>A | CA412361762 | CDKL5 | c.1580C>A (p.Pro527His) c.1529C>A (p.Pro510His) c.1448C>A (p.Pro483His) n.1832C>A | |
X | g.18604504C= | CA2417974430 | CDKL5 | c.1580C= (p.Pro527=) c.1529C= (p.Pro510=) c.1448C= (p.Pro483=) n.1832C= | |
X | g.18604504C>G | CA412361765 | CDKL5 | c.1580C>G (p.Pro527Arg) c.1529C>G (p.Pro510Arg) c.1448C>G (p.Pro483Arg) n.1832C>G | |
X | g.18604504C>T | CA10360395 | CDKL5 | c.1580C>T (p.Pro527Leu) c.1529C>T (p.Pro510Leu) c.1448C>T (p.Pro483Leu) n.1832C>T | ClinVar dbSNP ExAC |
X | g.18604505C>A | CA515627763 | CDKL5 | c.1581C>A (p.Pro527=) c.1530C>A (p.Pro510=) c.1449C>A (p.Pro483=) n.1833C>A | |
X | g.18604505C>G | CA515627764 | CDKL5 | c.1581C>G (p.Pro527=) c.1530C>G (p.Pro510=) c.1449C>G (p.Pro483=) n.1833C>G | |
X | g.18604505C>T | CA515627765 | CDKL5 | c.1581C>T (p.Pro527=) c.1530C>T (p.Pro510=) c.1449C>T (p.Pro483=) n.1833C>T | |
X | g.18604506A>C | CA412361770 | CDKL5 | c.1582A>C (p.Thr528Pro) c.1531A>C (p.Thr511Pro) c.1450A>C (p.Thr484Pro) n.1834A>C | |
X | g.18604506A>G | CA412361774 | CDKL5 | c.1582A>G (p.Thr528Ala) c.1531A>G (p.Thr511Ala) c.1450A>G (p.Thr484Ala) n.1834A>G | gnomAD v4 |
X | g.18604506A>T | CA412361777 | CDKL5 | c.1582A>T (p.Thr528Ser) c.1531A>T (p.Thr511Ser) c.1450A>T (p.Thr484Ser) n.1834A>T | |
X | g.18604507C>A | CA412361780 | CDKL5 | c.1583C>A (p.Thr528Asn) c.1532C>A (p.Thr511Asn) c.1451C>A (p.Thr484Asn) n.1835C>A | gnomAD v4 |
X | g.18604507C>G | CA412361783 | CDKL5 | c.1583C>G (p.Thr528Ser) c.1532C>G (p.Thr511Ser) c.1451C>G (p.Thr484Ser) n.1835C>G | |
X | g.18604507C>T | CA412361786 | CDKL5 | c.1583C>T (p.Thr528Ile) c.1532C>T (p.Thr511Ile) c.1451C>T (p.Thr484Ile) n.1835C>T | gnomAD v4 |
X | g.18604508dup | CA2499226536 | CDKL5 | c.1584dup (p.Ser529GlnfsTer9) c.1533dup (p.Ser512GlnfsTer9) c.1452dup (p.Ser485GlnfsTer9) n.1836dup | ClinVar dbSNP |
X | g.18604508C>A | CA515627771 | CDKL5 | c.1584C>A (p.Thr528=) c.1533C>A (p.Thr511=) c.1452C>A (p.Thr484=) n.1836C>A | |
X | g.18604508C>G | CA515627773 | CDKL5 | c.1584C>G (p.Thr528=) c.1533C>G (p.Thr511=) c.1452C>G (p.Thr484=) n.1836C>G | |
X | g.18604508C>T | CA515627774 | CDKL5 | c.1584C>T (p.Thr528=) c.1533C>T (p.Thr511=) c.1452C>T (p.Thr484=) n.1836C>T | |
X | g.18604509A= | CA2417974431 | CDKL5 | c.1585A= (p.Ser529=) c.1534A= (p.Ser512=) c.1453A= (p.Ser485=) n.1837A= | |
X | g.18604509A>C | CA326987836 | CDKL5 | c.1585A>C (p.Ser529Arg) c.1534A>C (p.Ser512Arg) c.1453A>C (p.Ser485Arg) n.1837A>C | dbSNP |
X | g.18604509A>G | CA412361789 | CDKL5 | c.1585A>G (p.Ser529Gly) c.1534A>G (p.Ser512Gly) c.1453A>G (p.Ser485Gly) n.1837A>G | |
X | g.18604509A>T | CA412361793 | CDKL5 | c.1585A>T (p.Ser529Cys) c.1534A>T (p.Ser512Cys) c.1453A>T (p.Ser485Cys) n.1837A>T | |
X | g.18604510G>A | CA412361796 | CDKL5 | c.1586G>A (p.Ser529Asn) c.1535G>A (p.Ser512Asn) c.1454G>A (p.Ser485Asn) n.1838G>A | |
X | g.18604510G>C | CA10360396 | CDKL5 | c.1586G>C (p.Ser529Thr) c.1535G>C (p.Ser512Thr) c.1454G>C (p.Ser485Thr) n.1838G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604510G= | CA2417974432 | CDKL5 | c.1586G= (p.Ser529=) c.1535G= (p.Ser512=) c.1454G= (p.Ser485=) n.1838G= | |
X | g.18604510G>T | CA412361803 | CDKL5 | c.1586G>T (p.Ser529Ile) c.1535G>T (p.Ser512Ile) c.1454G>T (p.Ser485Ile) n.1838G>T | dbSNP |
X | g.18604511C>A | CA412361809 | CDKL5 | c.1587C>A (p.Ser529Arg) c.1536C>A (p.Ser512Arg) c.1455C>A (p.Ser485Arg) n.1839C>A | |
X | g.18604511C>G | CA412361811 | CDKL5 | c.1587C>G (p.Ser529Arg) c.1536C>G (p.Ser512Arg) c.1455C>G (p.Ser485Arg) n.1839C>G | |
X | g.18604511C>T | CA515627781 | CDKL5 | c.1587C>T (p.Ser529=) c.1536C>T (p.Ser512=) c.1455C>T (p.Ser485=) n.1839C>T | |
X | g.18604512C>A | CA412361815 | CDKL5 | c.1588C>A (p.Pro530Thr) c.1537C>A (p.Pro513Thr) c.1456C>A (p.Pro486Thr) n.1840C>A | |
X | g.18604512C>G | CA412361818 | CDKL5 | c.1588C>G (p.Pro530Ala) c.1537C>G (p.Pro513Ala) c.1456C>G (p.Pro486Ala) n.1840C>G | |
X | g.18604512C>T | CA412361820 | CDKL5 | c.1588C>T (p.Pro530Ser) c.1537C>T (p.Pro513Ser) c.1456C>T (p.Pro486Ser) n.1840C>T | |
X | g.18604513C>A | CA412361825 | CDKL5 | c.1589C>A (p.Pro530Gln) c.1538C>A (p.Pro513Gln) c.1457C>A (p.Pro486Gln) n.1841C>A | |
X | g.18604513C>G | CA412361828 | CDKL5 | c.1589C>G (p.Pro530Arg) c.1538C>G (p.Pro513Arg) c.1457C>G (p.Pro486Arg) n.1841C>G | |
X | g.18604513C>T | CA412361831 | CDKL5 | c.1589C>T (p.Pro530Leu) c.1538C>T (p.Pro513Leu) c.1457C>T (p.Pro486Leu) n.1841C>T | COSMIC |
X | g.18604515_18604528del | CA2695231304 | CDKL5 | c.1591_1604del (p.Thr531GlnfsTer2) c.1540_1553del (p.Thr514GlnfsTer2) c.1459_1472del (p.Thr487GlnfsTer2) n.1843_1856del | |
X | g.18604514A= | CA2417974433 | CDKL5 | c.1590A= (p.Pro530=) c.1539A= (p.Pro513=) c.1458A= (p.Pro486=) n.1842A= | |
X | g.18604514A>C | CA326987840 | CDKL5 | c.1590A>C (p.Pro530=) c.1539A>C (p.Pro513=) c.1458A>C (p.Pro486=) n.1842A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18604514A>G | CA515627784 | CDKL5 | c.1590A>G (p.Pro530=) c.1539A>G (p.Pro513=) c.1458A>G (p.Pro486=) n.1842A>G | |
X | g.18604514A>T | CA515627785 | CDKL5 | c.1590A>T (p.Pro530=) c.1539A>T (p.Pro513=) c.1458A>T (p.Pro486=) n.1842A>T | |
X | g.18604515A= | CA2417974434 | CDKL5 | c.1591A= (p.Thr531=) c.1540A= (p.Thr514=) c.1459A= (p.Thr487=) n.1843A= | |
X | g.18604515A>C | CA412361836 | CDKL5 | c.1591A>C (p.Thr531Pro) c.1540A>C (p.Thr514Pro) c.1459A>C (p.Thr487Pro) n.1843A>C | |
X | g.18604515A>G | CA213381 | CDKL5 | c.1591A>G (p.Thr531Ala) c.1540A>G (p.Thr514Ala) c.1459A>G (p.Thr487Ala) n.1843A>G | ClinVar dbSNP ExAC gnomAD v2 |
X | g.18604515A>T | CA412361844 | CDKL5 | c.1591A>T (p.Thr531Ser) c.1540A>T (p.Thr514Ser) c.1459A>T (p.Thr487Ser) n.1843A>T | |
X | g.18604515_18604516insACA | CA2819902189 | CDKL5 | c.1591_1592insACA (p.Pro530_Thr531insAsn) c.1540_1541insACA (p.Pro513_Thr514insAsn) c.1459_1460insACA (p.Pro486_Thr487insAsn) n.1843_1844insACA | |
X | g.18604515_18604516delinsAC | CA2417974435 | CDKL5 | c.1591_1592delinsAC (p.Thr531=) c.1540_1541delinsAC (p.Thr514=) c.1459_1460delinsAC (p.Thr487=) n.1843_1844delinsAC | |
X | g.18604516C>A | CA412361853 | CDKL5 | c.1592C>A (p.Thr531Asn) c.1541C>A (p.Thr514Asn) c.1460C>A (p.Thr487Asn) n.1844C>A | |
X | g.18604516C= | CA2417974436 | CDKL5 | c.1592C= (p.Thr531=) c.1541C= (p.Thr514=) c.1460C= (p.Thr487=) n.1844C= | |
X | g.18604516C>G | CA412361850 | CDKL5 | c.1592C>G (p.Thr531Ser) c.1541C>G (p.Thr514Ser) c.1460C>G (p.Thr487Ser) n.1844C>G | |
X | g.18604516C>T | CA412361848 | CDKL5 | c.1592C>T (p.Thr531Ile) c.1541C>T (p.Thr514Ile) c.1460C>T (p.Thr487Ile) n.1844C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18604518_18604519insACCCC | CA2819902193 | CDKL5 | c.1594_1595insACCCC (p.Pro532HisfsTer?) c.1543_1544insACCCC (p.Pro515HisfsTer?) c.1462_1463insACCCC (p.Pro488HisfsTer?) n.1846_1847insACCCC | |
X | g.18604520del | CA658825120 | CDKL5 | c.1596del (p.Thr533ProfsTer?) c.1545del (p.Thr516ProfsTer?) c.1464del (p.Thr489ProfsTer?) n.1848del | ClinVar dbSNP |
X | g.18604517C>A | CA515627791 | CDKL5 | c.1593C>A (p.Thr531=) c.1542C>A (p.Thr514=) c.1461C>A (p.Thr487=) n.1845C>A | |
X | g.18604517C>G | CA515627790 | CDKL5 | c.1593C>G (p.Thr531=) c.1542C>G (p.Thr514=) c.1461C>G (p.Thr487=) n.1845C>G | |
X | g.18604517C>T | CA515627789 | CDKL5 | c.1593C>T (p.Thr531=) c.1542C>T (p.Thr514=) c.1461C>T (p.Thr487=) n.1845C>T | |
X | g.18604518C>A | CA412361857 | CDKL5 | c.1594C>A (p.Pro532Thr) c.1543C>A (p.Pro515Thr) c.1462C>A (p.Pro488Thr) n.1846C>A | |
X | g.18604518C>G | CA412361859 | CDKL5 | c.1594C>G (p.Pro532Ala) c.1543C>G (p.Pro515Ala) c.1462C>G (p.Pro488Ala) n.1846C>G | gnomAD v4 |
X | g.18604518C>T | CA412361860 | CDKL5 | c.1594C>T (p.Pro532Ser) c.1543C>T (p.Pro515Ser) c.1462C>T (p.Pro488Ser) n.1846C>T | gnomAD v4 |
X | g.18604519C>A | CA412361863 | CDKL5 | c.1595C>A (p.Pro532His) c.1544C>A (p.Pro515His) c.1463C>A (p.Pro488His) n.1847C>A | |
X | g.18604519C>G | CA412361866 | CDKL5 | c.1595C>G (p.Pro532Arg) c.1544C>G (p.Pro515Arg) c.1463C>G (p.Pro488Arg) n.1847C>G | |
X | g.18604519C>T | CA412361869 | CDKL5 | c.1595C>T (p.Pro532Leu) c.1544C>T (p.Pro515Leu) c.1463C>T (p.Pro488Leu) n.1847C>T | COSMIC |
X | g.18604520C>A | CA326987843 | CDKL5 | c.1596C>A (p.Pro532=) c.1545C>A (p.Pro515=) c.1464C>A (p.Pro488=) n.1848C>A | dbSNP gnomAD v4 |
X | g.18604520C= | CA2417974437 | CDKL5 | c.1596C= (p.Pro532=) c.1545C= (p.Pro515=) c.1464C= (p.Pro488=) n.1848C= | |
X | g.18604520C>G | CA515627794 | CDKL5 | c.1596C>G (p.Pro532=) c.1545C>G (p.Pro515=) c.1464C>G (p.Pro488=) n.1848C>G | |
X | g.18604520C>T | CA515627795 | CDKL5 | c.1596C>T (p.Pro532=) c.1545C>T (p.Pro515=) c.1464C>T (p.Pro488=) n.1848C>T | ClinVar |
X | g.18604521A>C | CA412361873 | CDKL5 | c.1597A>C (p.Thr533Pro) c.1546A>C (p.Thr516Pro) c.1465A>C (p.Thr489Pro) n.1849A>C | |
X | g.18604521A>G | CA412361874 | CDKL5 | c.1597A>G (p.Thr533Ala) c.1546A>G (p.Thr516Ala) c.1465A>G (p.Thr489Ala) n.1849A>G | |
X | g.18604521A>T | CA412361883 | CDKL5 | c.1597A>T (p.Thr533Ser) c.1546A>T (p.Thr516Ser) c.1465A>T (p.Thr489Ser) n.1849A>T | |
X | g.18604521_18604522insAACACAC | CA2819902202 | CDKL5 | c.1597_1598insAACACAC (p.Thr533LysfsTer7) c.1546_1547insAACACAC (p.Thr516LysfsTer7) c.1465_1466insAACACAC (p.Thr489LysfsTer7) n.1849_1850insAACACAC | |
X | g.18604522C>A | CA412361886 | CDKL5 | c.1598C>A (p.Thr533Asn) c.1547C>A (p.Thr516Asn) c.1466C>A (p.Thr489Asn) n.1850C>A | |
X | g.18604522C= | CA2417974438 | CDKL5 | c.1598C= (p.Thr533=) c.1547C= (p.Thr516=) c.1466C= (p.Thr489=) n.1850C= | |
X | g.18604522C>G | CA412361887 | CDKL5 | c.1598C>G (p.Thr533Ser) c.1547C>G (p.Thr516Ser) c.1466C>G (p.Thr489Ser) n.1850C>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.18604522C>T | CA412361889 | CDKL5 | c.1598C>T (p.Thr533Ile) c.1547C>T (p.Thr516Ile) c.1466C>T (p.Thr489Ile) n.1850C>T | |
X | g.18604522_18604525del | CA2819902203 | CDKL5 | c.1598_1601del (p.Thr533AsnfsTer?) c.1547_1550del (p.Thr516AsnfsTer?) c.1466_1469del (p.Thr489AsnfsTer?) n.1850_1853del | |
X | g.18604523C>A | CA515627799 | CDKL5 | c.1599C>A (p.Thr533=) c.1548C>A (p.Thr516=) c.1467C>A (p.Thr489=) n.1851C>A | |
X | g.18604523C>G | CA515627801 | CDKL5 | c.1599C>G (p.Thr533=) c.1548C>G (p.Thr516=) c.1467C>G (p.Thr489=) n.1851C>G | |
X | g.18604523C>T | CA515627800 | CDKL5 | c.1599C>T (p.Thr533=) c.1548C>T (p.Thr516=) c.1467C>T (p.Thr489=) n.1851C>T | gnomAD v4 |
X | g.18604524A= | CA2417974439 | CDKL5 | c.1600A= (p.Arg534=) c.1549A= (p.Arg517=) c.1468A= (p.Arg490=) n.1852A= | |
X | g.18604524A>C | CA515627802 | CDKL5 | c.1600A>C (p.Arg534=) c.1549A>C (p.Arg517=) c.1468A>C (p.Arg490=) n.1852A>C | |
X | g.18604524A>G | CA10360397 | CDKL5 | c.1600A>G (p.Arg534Gly) c.1549A>G (p.Arg517Gly) c.1468A>G (p.Arg490Gly) n.1852A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604524A>T | CA412361891 | CDKL5 | c.1600A>T (p.Arg534Ter) c.1549A>T (p.Arg517Ter) c.1468A>T (p.Arg490Ter) n.1852A>T | |
X | g.18604524_18604525insAACACACCC | CA2819902208 | CDKL5 | c.1600_1601insAACACACCC (p.Thr533_Arg534insLysHisThr) c.1549_1550insAACACACCC (p.Thr516_Arg517insLysHisThr) c.1468_1469insAACACACCC (p.Thr489_Arg490insLysHisThr) n.1852_1853insAACACACCC | |
X | g.18604525del | CA2819902209 | CDKL5 | c.1601del (p.Arg534AsnfsTer?) c.1550del (p.Arg517AsnfsTer?) c.1469del (p.Arg490AsnfsTer?) n.1853del | |
X | g.18604525G>A | CA412361896 | CDKL5 | c.1601G>A (p.Arg534Lys) c.1550G>A (p.Arg517Lys) c.1469G>A (p.Arg490Lys) n.1853G>A | |
X | g.18604525G>C | CA412361902 | CDKL5 | c.1601G>C (p.Arg534Thr) c.1550G>C (p.Arg517Thr) c.1469G>C (p.Arg490Thr) n.1853G>C | |
X | g.18604525G>T | CA412361899 | CDKL5 | c.1601G>T (p.Arg534Ile) c.1550G>T (p.Arg517Ile) c.1469G>T (p.Arg490Ile) n.1853G>T | |
X | g.18604526A= | CA2417974440 | CDKL5 | c.1602A= (p.Arg534=) c.1551A= (p.Arg517=) c.1470A= (p.Arg490=) n.1854A= | |
X | g.18604526A>C | CA412361905 | CDKL5 | c.1602A>C (p.Arg534Ser) c.1551A>C (p.Arg517Ser) c.1470A>C (p.Arg490Ser) n.1854A>C | ClinVar dbSNP gnomAD v4 |
X | g.18604526A>G | CA515627807 | CDKL5 | c.1602A>G (p.Arg534=) c.1551A>G (p.Arg517=) c.1470A>G (p.Arg490=) n.1854A>G | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604526A>T | CA412361906 | CDKL5 | c.1602A>T (p.Arg534Ser) c.1551A>T (p.Arg517Ser) c.1470A>T (p.Arg490Ser) n.1854A>T | |
X | g.18604527C>A | CA412361909 | CDKL5 | c.1603C>A (p.His535Asn) c.1552C>A (p.His518Asn) c.1471C>A (p.His491Asn) n.1855C>A | |
X | g.18604527C>G | CA412361910 | CDKL5 | c.1603C>G (p.His535Asp) c.1552C>G (p.His518Asp) c.1471C>G (p.His491Asp) n.1855C>G | |
X | g.18604527C>T | CA412361912 | CDKL5 | c.1603C>T (p.His535Tyr) c.1552C>T (p.His518Tyr) c.1471C>T (p.His491Tyr) n.1855C>T | |
X | g.18604528A>C | CA412361914 | CDKL5 | c.1604A>C (p.His535Pro) c.1553A>C (p.His518Pro) c.1472A>C (p.His491Pro) n.1856A>C | |
X | g.18604528A>G | CA412361916 | CDKL5 | c.1604A>G (p.His535Arg) c.1553A>G (p.His518Arg) c.1472A>G (p.His491Arg) n.1856A>G | |
X | g.18604528A>T | CA412361918 | CDKL5 | c.1604A>T (p.His535Leu) c.1553A>T (p.His518Leu) c.1472A>T (p.His491Leu) n.1856A>T | |
X | g.18604529C>A | CA412361920 | CDKL5 | c.1605C>A (p.His535Gln) c.1554C>A (p.His518Gln) c.1473C>A (p.His491Gln) n.1857C>A | |
X | g.18604529C>G | CA412361922 | CDKL5 | c.1605C>G (p.His535Gln) c.1554C>G (p.His518Gln) c.1473C>G (p.His491Gln) n.1857C>G | |
X | g.18604529C>T | CA515627811 | CDKL5 | c.1605C>T (p.His535=) c.1554C>T (p.His518=) c.1473C>T (p.His491=) n.1857C>T | |
X | g.18604530A>C | CA412361924 | CDKL5 | c.1606A>C (p.Ser536Arg) c.1555A>C (p.Ser519Arg) c.1474A>C (p.Ser492Arg) n.1858A>C | |
X | g.18604530A>G | CA412361926 | CDKL5 | c.1606A>G (p.Ser536Gly) c.1555A>G (p.Ser519Gly) c.1474A>G (p.Ser492Gly) n.1858A>G | |
X | g.18604530A>T | CA412361928 | CDKL5 | c.1606A>T (p.Ser536Cys) c.1555A>T (p.Ser519Cys) c.1474A>T (p.Ser492Cys) n.1858A>T | |
X | g.18604531G>A | CA412361931 | CDKL5 | c.1607G>A (p.Ser536Asn) c.1556G>A (p.Ser519Asn) c.1475G>A (p.Ser492Asn) n.1859G>A | |
X | g.18604531G>C | CA412361933 | CDKL5 | c.1607G>C (p.Ser536Thr) c.1556G>C (p.Ser519Thr) c.1475G>C (p.Ser492Thr) n.1859G>C | |
X | g.18604531G>T | CA412361932 | CDKL5 | c.1607G>T (p.Ser536Ile) c.1556G>T (p.Ser519Ile) c.1475G>T (p.Ser492Ile) n.1859G>T | |
X | g.18604532T>A | CA412361935 | CDKL5 | c.1608T>A (p.Ser536Arg) c.1557T>A (p.Ser519Arg) c.1476T>A (p.Ser492Arg) n.1860T>A | |
X | g.18604532T>C | CA515627814 | CDKL5 | c.1608T>C (p.Ser536=) c.1557T>C (p.Ser519=) c.1476T>C (p.Ser492=) n.1860T>C | |
X | g.18604532T>G | CA412361938 | CDKL5 | c.1608T>G (p.Ser536Arg) c.1557T>G (p.Ser519Arg) c.1476T>G (p.Ser492Arg) n.1860T>G | |
X | g.18604533G>A | CA412361940 | CDKL5 | c.1609G>A (p.Asp537Asn) c.1558G>A (p.Asp520Asn) c.1477G>A (p.Asp493Asn) n.1861G>A | |
X | g.18604533G>C | CA412361942 | CDKL5 | c.1609G>C (p.Asp537His) c.1558G>C (p.Asp520His) c.1477G>C (p.Asp493His) n.1861G>C | |
X | g.18604533G>T | CA412361944 | CDKL5 | c.1609G>T (p.Asp537Tyr) c.1558G>T (p.Asp520Tyr) c.1477G>T (p.Asp493Tyr) n.1861G>T | |
X | g.18604534A>C | CA412361945 | CDKL5 | c.1610A>C (p.Asp537Ala) c.1559A>C (p.Asp520Ala) c.1478A>C (p.Asp493Ala) n.1862A>C | |
X | g.18604534A>G | CA412361946 | CDKL5 | c.1610A>G (p.Asp537Gly) c.1559A>G (p.Asp520Gly) c.1478A>G (p.Asp493Gly) n.1862A>G | |
X | g.18604534A>T | CA412361948 | CDKL5 | c.1610A>T (p.Asp537Val) c.1559A>T (p.Asp520Val) c.1478A>T (p.Asp493Val) n.1862A>T | |
X | g.18604536_18604537del | CA2580615397 | CDKL5 | c.1612_1613del (p.Thr538GlufsTer11) c.1561_1562del (p.Thr521GlufsTer11) c.1480_1481del (p.Thr494GlufsTer11) n.1864_1865del | ClinVar dbSNP |
X | g.18604535C>A | CA412361950 | CDKL5 | c.1611C>A (p.Asp537Glu) c.1560C>A (p.Asp520Glu) c.1479C>A (p.Asp493Glu) n.1863C>A | |
X | g.18604535C>G | CA412361952 | CDKL5 | c.1611C>G (p.Asp537Glu) c.1560C>G (p.Asp520Glu) c.1479C>G (p.Asp493Glu) n.1863C>G | |
X | g.18604535C>T | CA515627817 | CDKL5 | c.1611C>T (p.Asp537=) c.1560C>T (p.Asp520=) c.1479C>T (p.Asp493=) n.1863C>T | |
X | g.18604536A= | CA2417974441 | CDKL5 | c.1612A= (p.Thr538=) c.1561A= (p.Thr521=) c.1480A= (p.Thr494=) n.1864A= | |
X | g.18604536A>C | CA412361957 | CDKL5 | c.1612A>C (p.Thr538Pro) c.1561A>C (p.Thr521Pro) c.1480A>C (p.Thr494Pro) n.1864A>C | |
X | g.18604536A>G | CA412361958 | CDKL5 | c.1612A>G (p.Thr538Ala) c.1561A>G (p.Thr521Ala) c.1480A>G (p.Thr494Ala) n.1864A>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.18604536A>T | CA412361955 | CDKL5 | c.1612A>T (p.Thr538Ser) c.1561A>T (p.Thr521Ser) c.1480A>T (p.Thr494Ser) n.1864A>T | |
X | g.18604537C>A | CA412361960 | CDKL5 | c.1613C>A (p.Thr538Lys) c.1562C>A (p.Thr521Lys) c.1481C>A (p.Thr494Lys) n.1865C>A | ClinVar |
X | g.18604537C= | CA2417974442 | CDKL5 | c.1613C= (p.Thr538=) c.1562C= (p.Thr521=) c.1481C= (p.Thr494=) n.1865C= | |
X | g.18604537C>G | CA412361962 | CDKL5 | c.1613C>G (p.Thr538Arg) c.1562C>G (p.Thr521Arg) c.1481C>G (p.Thr494Arg) n.1865C>G | |
X | g.18604537C>T | CA412361964 | CDKL5 | c.1613C>T (p.Thr538Met) c.1562C>T (p.Thr521Met) c.1481C>T (p.Thr494Met) n.1865C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.18604538G>A | CA10360398 | CDKL5 | c.1614G>A (p.Thr538=) c.1563G>A (p.Thr521=) c.1482G>A (p.Thr494=) n.1866G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604538G>C | CA515627818 | CDKL5 | c.1614G>C (p.Thr538=) c.1563G>C (p.Thr521=) c.1482G>C (p.Thr494=) n.1866G>C | |
X | g.18604538G= | CA2417974443 | CDKL5 | c.1614G= (p.Thr538=) c.1563G= (p.Thr521=) c.1482G= (p.Thr494=) n.1866G= | |
X | g.18604538G>T | CA515627819 | CDKL5 | c.1614G>T (p.Thr538=) c.1563G>T (p.Thr521=) c.1482G>T (p.Thr494=) n.1866G>T | |
X | g.18604539A>C | CA515627820 | CDKL5 | c.1615A>C (p.Arg539=) c.1564A>C (p.Arg522=) c.1483A>C (p.Arg495=) n.1867A>C | |
X | g.18604539A>G | CA412361967 | CDKL5 | c.1615A>G (p.Arg539Gly) c.1564A>G (p.Arg522Gly) c.1483A>G (p.Arg495Gly) n.1867A>G | |
X | g.18604539A>T | CA412361968 | CDKL5 | c.1615A>T (p.Arg539Ter) c.1564A>T (p.Arg522Ter) c.1483A>T (p.Arg495Ter) n.1867A>T | |
X | g.18604540G>A | CA412361974 | CDKL5 | c.1616G>A (p.Arg539Lys) c.1565G>A (p.Arg522Lys) c.1484G>A (p.Arg495Lys) n.1868G>A | gnomAD v4 |
X | g.18604540G>C | CA412361970 | CDKL5 | c.1616G>C (p.Arg539Thr) c.1565G>C (p.Arg522Thr) c.1484G>C (p.Arg495Thr) n.1868G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.18604540G= | CA2417974444 | CDKL5 | c.1616G= (p.Arg539=) c.1565G= (p.Arg522=) c.1484G= (p.Arg495=) n.1868G= | |
X | g.18604540G>T | CA412361972 | CDKL5 | c.1616G>T (p.Arg539Ile) c.1565G>T (p.Arg522Ile) c.1484G>T (p.Arg495Ile) n.1868G>T | |
X | g.18604541A>C | CA412361976 | CDKL5 | c.1617A>C (p.Arg539Ser) c.1566A>C (p.Arg522Ser) c.1485A>C (p.Arg495Ser) n.1869A>C | |
X | g.18604541A>G | CA515627822 | CDKL5 | c.1617A>G (p.Arg539=) c.1566A>G (p.Arg522=) c.1485A>G (p.Arg495=) n.1869A>G | |
X | g.18604541A>T | CA412361978 | CDKL5 | c.1617A>T (p.Arg539Ser) c.1566A>T (p.Arg522Ser) c.1485A>T (p.Arg495Ser) n.1869A>T | |
X | g.18604542A>C | CA412361980 | CDKL5 | c.1618A>C (p.Thr540Pro) c.1567A>C (p.Thr523Pro) c.1486A>C (p.Thr496Pro) n.1870A>C | |
X | g.18604542A>G | CA412361982 | CDKL5 | c.1618A>G (p.Thr540Ala) c.1567A>G (p.Thr523Ala) c.1486A>G (p.Thr496Ala) n.1870A>G | |
X | g.18604542A>T | CA412361983 | CDKL5 | c.1618A>T (p.Thr540Ser) c.1567A>T (p.Thr523Ser) c.1486A>T (p.Thr496Ser) n.1870A>T | |
X | g.18604543C>A | CA412361986 | CDKL5 | c.1619C>A (p.Thr540Asn) c.1568C>A (p.Thr523Asn) c.1487C>A (p.Thr496Asn) n.1871C>A | |
X | g.18604543C>G | CA412361989 | CDKL5 | c.1619C>G (p.Thr540Ser) c.1568C>G (p.Thr523Ser) c.1487C>G (p.Thr496Ser) n.1871C>G | |
X | g.18604543C>T | CA412361988 | CDKL5 | c.1619C>T (p.Thr540Ile) c.1568C>T (p.Thr523Ile) c.1487C>T (p.Thr496Ile) n.1871C>T | COSMIC |
X | g.18604544T>A | CA515627824 | CDKL5 | c.1620T>A (p.Thr540=) c.1569T>A (p.Thr523=) c.1488T>A (p.Thr496=) n.1872T>A | |
X | g.18604544T>C | CA515627826 | CDKL5 | c.1620T>C (p.Thr540=) c.1569T>C (p.Thr523=) c.1488T>C (p.Thr496=) n.1872T>C | |
X | g.18604544T>G | CA515627827 | CDKL5 | c.1620T>G (p.Thr540=) c.1569T>G (p.Thr523=) c.1488T>G (p.Thr496=) n.1872T>G | |
X | g.18604545T>A | CA412361991 | CDKL5 | c.1621T>A (p.Leu541Met) c.1570T>A (p.Leu524Met) c.1489T>A (p.Leu497Met) n.1873T>A | |
X | g.18604545T>C | CA515627828 | CDKL5 | c.1621T>C (p.Leu541=) c.1570T>C (p.Leu524=) c.1489T>C (p.Leu497=) n.1873T>C | |
X | g.18604545T>G | CA412361993 | CDKL5 | c.1621T>G (p.Leu541Val) c.1570T>G (p.Leu524Val) c.1489T>G (p.Leu497Val) n.1873T>G | dbSNP |
X | g.18604545T= | CA2417974445 | CDKL5 | c.1621T= (p.Leu541=) c.1570T= (p.Leu524=) c.1489T= (p.Leu497=) n.1873T= | |
X | g.18604546T>A | CA412361995 | CDKL5 | c.1622T>A (p.Leu541Ter) c.1571T>A (p.Leu524Ter) c.1490T>A (p.Leu497Ter) n.1874T>A | |
X | g.18604546T>C | CA412361997 | CDKL5 | c.1622T>C (p.Leu541Ser) c.1571T>C (p.Leu524Ser) c.1490T>C (p.Leu497Ser) n.1874T>C | |
X | g.18604546T>G | CA412361999 | CDKL5 | c.1622T>G (p.Leu541Trp) c.1571T>G (p.Leu524Trp) c.1490T>G (p.Leu497Trp) n.1874T>G | |
X | g.18604547G>A | CA515627832 | CDKL5 | c.1623G>A (p.Leu541=) c.1572G>A (p.Leu524=) c.1491G>A (p.Leu497=) n.1875G>A | |
X | g.18604547G>C | CA412362001 | CDKL5 | c.1623G>C (p.Leu541Phe) c.1572G>C (p.Leu524Phe) c.1491G>C (p.Leu497Phe) n.1875G>C | COSMIC |
X | g.18604547G>T | CA412362002 | CDKL5 | c.1623G>T (p.Leu541Phe) c.1572G>T (p.Leu524Phe) c.1491G>T (p.Leu497Phe) n.1875G>T | |
X | g.18604548C>A | CA412362003 | CDKL5 | c.1624C>A (p.Leu542Ile) c.1573C>A (p.Leu525Ile) c.1492C>A (p.Leu498Ile) n.1876C>A | |
X | g.18604548C>G | CA412362004 | CDKL5 | c.1624C>G (p.Leu542Val) c.1573C>G (p.Leu525Val) c.1492C>G (p.Leu498Val) n.1876C>G | |
X | g.18604548C>T | CA412362006 | CDKL5 | c.1624C>T (p.Leu542Phe) c.1573C>T (p.Leu525Phe) c.1492C>T (p.Leu498Phe) n.1876C>T | |
X | g.18604549T>A | CA412362009 | CDKL5 | c.1625T>A (p.Leu542His) c.1574T>A (p.Leu525His) c.1493T>A (p.Leu498His) n.1877T>A | |
X | g.18604549T>C | CA412362010 | CDKL5 | c.1625T>C (p.Leu542Pro) c.1574T>C (p.Leu525Pro) c.1493T>C (p.Leu498Pro) n.1877T>C | gnomAD v4 |
X | g.18604549T>G | CA412362012 | CDKL5 | c.1625T>G (p.Leu542Arg) c.1574T>G (p.Leu525Arg) c.1493T>G (p.Leu498Arg) n.1877T>G | |
X | g.18604550C>A | CA515627834 | CDKL5 | c.1626C>A (p.Leu542=) c.1575C>A (p.Leu525=) c.1494C>A (p.Leu498=) n.1878C>A | gnomAD v4 |
X | g.18604550C>G | CA515627836 | CDKL5 | c.1626C>G (p.Leu542=) c.1575C>G (p.Leu525=) c.1494C>G (p.Leu498=) n.1878C>G | |
X | g.18604550C>T | CA515627837 | CDKL5 | c.1626C>T (p.Leu542=) c.1575C>T (p.Leu525=) c.1494C>T (p.Leu498=) n.1878C>T | |
X | g.18604551A>C | CA412362016 | CDKL5 | c.1627A>C (p.Ser543Arg) c.1576A>C (p.Ser526Arg) c.1495A>C (p.Ser499Arg) n.1879A>C | |
X | g.18604551A>G | CA412362019 | CDKL5 | c.1627A>G (p.Ser543Gly) c.1576A>G (p.Ser526Gly) c.1495A>G (p.Ser499Gly) n.1879A>G | |
X | g.18604551A>T | CA412362015 | CDKL5 | c.1627A>T (p.Ser543Cys) c.1576A>T (p.Ser526Cys) c.1495A>T (p.Ser499Cys) n.1879A>T | |
X | g.18604552G>A | CA412362020 | CDKL5 | c.1628G>A (p.Ser543Asn) c.1577G>A (p.Ser526Asn) c.1496G>A (p.Ser499Asn) n.1880G>A | |
X | g.18604552G>C | CA412362022 | CDKL5 | c.1628G>C (p.Ser543Thr) c.1577G>C (p.Ser526Thr) c.1496G>C (p.Ser499Thr) n.1880G>C | |
X | g.18604552G>T | CA412362024 | CDKL5 | c.1628G>T (p.Ser543Ile) c.1577G>T (p.Ser526Ile) c.1496G>T (p.Ser499Ile) n.1880G>T | |
X | g.18604552dup | CA2499226537 | CDKL5 | c.1628dup (p.Ser543ArgfsTer7) c.1577dup (p.Ser526ArgfsTer7) c.1496dup (p.Ser499ArgfsTer7) n.1880dup | ClinVar dbSNP |
X | g.18604553C>A | CA412362025 | CDKL5 | c.1629C>A (p.Ser543Arg) c.1578C>A (p.Ser526Arg) c.1497C>A (p.Ser499Arg) n.1881C>A | |
X | g.18604553C>G | CA412362027 | CDKL5 | c.1629C>G (p.Ser543Arg) c.1578C>G (p.Ser526Arg) c.1497C>G (p.Ser499Arg) n.1881C>G | |
X | g.18604553C>T | CA515627839 | CDKL5 | c.1629C>T (p.Ser543=) c.1578C>T (p.Ser526=) c.1497C>T (p.Ser499=) n.1881C>T | |
X | g.18604554C>A | CA412362032 | CDKL5 | c.1630C>A (p.Pro544Thr) c.1579C>A (p.Pro527Thr) c.1498C>A (p.Pro500Thr) n.1882C>A | |
X | g.18604554C>G | CA412362030 | CDKL5 | c.1630C>G (p.Pro544Ala) c.1579C>G (p.Pro527Ala) c.1498C>G (p.Pro500Ala) n.1882C>G | |
X | g.18604554C>T | CA412362029 | CDKL5 | c.1630C>T (p.Pro544Ser) c.1579C>T (p.Pro527Ser) c.1498C>T (p.Pro500Ser) n.1882C>T | |
X | g.18604555C>A | CA412362034 | CDKL5 | c.1631C>A (p.Pro544His) c.1580C>A (p.Pro527His) c.1499C>A (p.Pro500His) n.1883C>A | |
X | g.18604555C= | CA2417974446 | CDKL5 | c.1631C= (p.Pro544=) c.1580C= (p.Pro527=) c.1499C= (p.Pro500=) n.1883C= | |
X | g.18604555C>G | CA412362036 | CDKL5 | c.1631C>G (p.Pro544Arg) c.1580C>G (p.Pro527Arg) c.1499C>G (p.Pro500Arg) n.1883C>G | |
X | g.18604555C>T | CA412362038 | CDKL5 | c.1631C>T (p.Pro544Leu) c.1580C>T (p.Pro527Leu) c.1499C>T (p.Pro500Leu) n.1883C>T | dbSNP |
X | g.18604556T>A | CA10360399 | CDKL5 | c.1632T>A (p.Pro544=) c.1581T>A (p.Pro527=) c.1500T>A (p.Pro500=) n.1884T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604556T>C | CA515627842 | CDKL5 | c.1632T>C (p.Pro544=) c.1581T>C (p.Pro527=) c.1500T>C (p.Pro500=) n.1884T>C | |
X | g.18604556T>G | CA515627843 | CDKL5 | c.1632T>G (p.Pro544=) c.1581T>G (p.Pro527=) c.1500T>G (p.Pro500=) n.1884T>G | |
X | g.18604556T= | CA2417974447 | CDKL5 | c.1632T= (p.Pro544=) c.1581T= (p.Pro527=) c.1500T= (p.Pro500=) n.1884T= | |
X | g.18604557del | CA2579562929 | CDKL5 | c.1633del (p.Ser545LeufsTer27) c.1582del (p.Ser528LeufsTer27) c.1501del (p.Ser501LeufsTer27) n.1885del | |
X | g.18604557T>A | CA412362041 | CDKL5 | c.1633T>A (p.Ser545Thr) c.1582T>A (p.Ser528Thr) c.1501T>A (p.Ser501Thr) n.1885T>A | |
X | g.18604557T>C | CA412362043 | CDKL5 | c.1633T>C (p.Ser545Pro) c.1582T>C (p.Ser528Pro) c.1501T>C (p.Ser501Pro) n.1885T>C | |
X | g.18604557T>G | CA412362045 | CDKL5 | c.1633T>G (p.Ser545Ala) c.1582T>G (p.Ser528Ala) c.1501T>G (p.Ser501Ala) n.1885T>G | |
X | g.18604558del | CA2819902221 | CDKL5 | c.1634del (p.Ser545LeufsTer27) c.1583del (p.Ser528LeufsTer27) c.1502del (p.Ser501LeufsTer27) n.1886del | |
X | g.18604558C>A | CA412362047 | CDKL5 | c.1634C>A (p.Ser545Tyr) c.1583C>A (p.Ser528Tyr) c.1502C>A (p.Ser501Tyr) n.1886C>A | |
X | g.18604558C>G | CA412362051 | CDKL5 | c.1634C>G (p.Ser545Cys) c.1583C>G (p.Ser528Cys) c.1502C>G (p.Ser501Cys) n.1886C>G | |
X | g.18604558C>T | CA412362049 | CDKL5 | c.1634C>T (p.Ser545Phe) c.1583C>T (p.Ser528Phe) c.1502C>T (p.Ser501Phe) n.1886C>T | |
X | g.18604559T>A | CA515627847 | CDKL5 | c.1635T>A (p.Ser545=) c.1584T>A (p.Ser528=) c.1503T>A (p.Ser501=) n.1887T>A | |
X | g.18604559T>C | CA515627846 | CDKL5 | c.1635T>C (p.Ser545=) c.1584T>C (p.Ser528=) c.1503T>C (p.Ser501=) n.1887T>C | |
X | g.18604559T>G | CA515627845 | CDKL5 | c.1635T>G (p.Ser545=) c.1584T>G (p.Ser528=) c.1503T>G (p.Ser501=) n.1887T>G | |
X | g.18604560G>A | CA294753 | CDKL5 | c.1636G>A (p.Gly546Arg) c.1585G>A (p.Gly529Arg) c.1504G>A (p.Gly502Arg) n.1888G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18604560G>C | CA412362054 | CDKL5 | c.1636G>C (p.Gly546Arg) c.1585G>C (p.Gly529Arg) c.1504G>C (p.Gly502Arg) n.1888G>C | |
X | g.18604560G= | CA2417974448 | CDKL5 | c.1636G= (p.Gly546=) c.1585G= (p.Gly529=) c.1504G= (p.Gly502=) n.1888G= | |
X | g.18604560G>T | CA412362056 | CDKL5 | c.1636G>T (p.Gly546Ter) c.1585G>T (p.Gly529Ter) c.1504G>T (p.Gly502Ter) n.1888G>T | |
X | g.18604561G>A | CA412362059 | CDKL5 | c.1637G>A (p.Gly546Glu) c.1586G>A (p.Gly529Glu) c.1505G>A (p.Gly502Glu) n.1889G>A | |
X | g.18604561G>C | CA412362060 | CDKL5 | c.1637G>C (p.Gly546Ala) c.1586G>C (p.Gly529Ala) c.1505G>C (p.Gly502Ala) n.1889G>C | |
X | g.18604561G>T | CA412362062 | CDKL5 | c.1637G>T (p.Gly546Val) c.1586G>T (p.Gly529Val) c.1505G>T (p.Gly502Val) n.1889G>T | |
X | g.18604562A>C | CA515627851 | CDKL5 | c.1638A>C (p.Gly546=) c.1587A>C (p.Gly529=) c.1506A>C (p.Gly502=) n.1890A>C | |
X | g.18604562A>G | CA515627852 | CDKL5 | c.1638A>G (p.Gly546=) c.1587A>G (p.Gly529=) c.1506A>G (p.Gly502=) n.1890A>G | |
X | g.18604562A>T | CA515627853 | CDKL5 | c.1638A>T (p.Gly546=) c.1587A>T (p.Gly529=) c.1506A>T (p.Gly502=) n.1890A>T | |
X | g.18604563A>C | CA515627854 | CDKL5 | c.1639A>C (p.Arg547=) c.1588A>C (p.Arg530=) c.1507A>C (p.Arg503=) n.1891A>C | |
X | g.18604563A>G | CA412362064 | CDKL5 | c.1639A>G (p.Arg547Gly) c.1588A>G (p.Arg530Gly) c.1507A>G (p.Arg503Gly) n.1891A>G | |
X | g.18604563A>T | CA412362066 | CDKL5 | c.1639A>T (p.Arg547Ter) c.1588A>T (p.Arg530Ter) c.1507A>T (p.Arg503Ter) n.1891A>T | |
X | g.18604564G>A | CA412362068 | CDKL5 | c.1640G>A (p.Arg547Lys) c.1589G>A (p.Arg530Lys) c.1508G>A (p.Arg503Lys) n.1892G>A | gnomAD v4 |
X | g.18604564G>C | CA412362070 | CDKL5 | c.1640G>C (p.Arg547Thr) c.1589G>C (p.Arg530Thr) c.1508G>C (p.Arg503Thr) n.1892G>C | |
X | g.18604564G>T | CA412362072 | CDKL5 | c.1640G>T (p.Arg547Ile) c.1589G>T (p.Arg530Ile) c.1508G>T (p.Arg503Ile) n.1892G>T | COSMIC |
X | g.18604565A>C | CA412362075 | CDKL5 | c.1641A>C (p.Arg547Ser) c.1590A>C (p.Arg530Ser) c.1509A>C (p.Arg503Ser) n.1893A>C | |
X | g.18604565A>G | CA515627859 | CDKL5 | c.1641A>G (p.Arg547=) c.1590A>G (p.Arg530=) c.1509A>G (p.Arg503=) n.1893A>G | |
X | g.18604565A>T | CA412362076 | CDKL5 | c.1641A>T (p.Arg547Ser) c.1590A>T (p.Arg530Ser) c.1509A>T (p.Arg503Ser) n.1893A>T | |
X | g.18604566A>C | CA412362078 | CDKL5 | c.1642A>C (p.Asn548His) c.1591A>C (p.Asn531His) c.1510A>C (p.Asn504His) n.1894A>C | |
X | g.18604566A>G | CA412362081 | CDKL5 | c.1642A>G (p.Asn548Asp) c.1591A>G (p.Asn531Asp) c.1510A>G (p.Asn504Asp) n.1894A>G | |
X | g.18604566A>T | CA412362079 | CDKL5 | c.1642A>T (p.Asn548Tyr) c.1591A>T (p.Asn531Tyr) c.1510A>T (p.Asn504Tyr) n.1894A>T | |
X | g.18604567A>C | CA412362084 | CDKL5 | c.1643A>C (p.Asn548Thr) c.1592A>C (p.Asn531Thr) c.1511A>C (p.Asn504Thr) n.1895A>C | |
X | g.18604567A>G | CA412362086 | CDKL5 | c.1643A>G (p.Asn548Ser) c.1592A>G (p.Asn531Ser) c.1511A>G (p.Asn504Ser) n.1895A>G | |
X | g.18604567A>T | CA412362087 | CDKL5 | c.1643A>T (p.Asn548Ile) c.1592A>T (p.Asn531Ile) c.1511A>T (p.Asn504Ile) n.1895A>T | |
X | g.18604568T>A | CA412362089 | CDKL5 | c.1644T>A (p.Asn548Lys) c.1593T>A (p.Asn531Lys) c.1512T>A (p.Asn504Lys) n.1896T>A | |
X | g.18604568T>C | CA515627861 | CDKL5 | c.1644T>C (p.Asn548=) c.1593T>C (p.Asn531=) c.1512T>C (p.Asn504=) n.1896T>C | |
X | g.18604568T>G | CA412362091 | CDKL5 | c.1644T>G (p.Asn548Lys) c.1593T>G (p.Asn531Lys) c.1512T>G (p.Asn504Lys) n.1896T>G | |
X | g.18604569A>C | CA412362094 | CDKL5 | c.1645A>C (p.Asn549His) c.1594A>C (p.Asn532His) c.1513A>C (p.Asn505His) n.1897A>C | |
X | g.18604569A>G | CA412362095 | CDKL5 | c.1645A>G (p.Asn549Asp) c.1594A>G (p.Asn532Asp) c.1513A>G (p.Asn505Asp) n.1897A>G | |
X | g.18604569A>T | CA412362098 | CDKL5 | c.1645A>T (p.Asn549Tyr) c.1594A>T (p.Asn532Tyr) c.1513A>T (p.Asn505Tyr) n.1897A>T | |
X | g.18604570A>C | CA412362100 | CDKL5 | c.1646A>C (p.Asn549Thr) c.1595A>C (p.Asn532Thr) c.1514A>C (p.Asn505Thr) n.1898A>C | |
X | g.18604570A>G | CA412362103 | CDKL5 | c.1646A>G (p.Asn549Ser) c.1595A>G (p.Asn532Ser) c.1514A>G (p.Asn505Ser) n.1898A>G | |
X | g.18604570A>T | CA412362101 | CDKL5 | c.1646A>T (p.Asn549Ile) c.1595A>T (p.Asn532Ile) c.1514A>T (p.Asn505Ile) n.1898A>T | |
X | g.18604571C>A | CA412362105 | CDKL5 | c.1647C>A (p.Asn549Lys) c.1596C>A (p.Asn532Lys) c.1515C>A (p.Asn505Lys) n.1899C>A | |
X | g.18604571C>G | CA412362107 | CDKL5 | c.1647C>G (p.Asn549Lys) c.1596C>G (p.Asn532Lys) c.1515C>G (p.Asn505Lys) n.1899C>G | |
X | g.18604571C>T | CA515627865 | CDKL5 | c.1647C>T (p.Asn549=) c.1596C>T (p.Asn532=) c.1515C>T (p.Asn505=) n.1899C>T | gnomAD v4 |
X | g.18604572C>A | CA515627866 | CDKL5 | c.1648C>A (p.Arg550=) c.1597C>A (p.Arg533=) c.1516C>A (p.Arg506=) n.1900C>A | |
X | g.18604572C= | CA2417974449 | CDKL5 | c.1648C= (p.Arg550=) c.1597C= (p.Arg533=) c.1516C= (p.Arg506=) n.1900C= | |
X | g.18604572C>G | CA412362109 | CDKL5 | c.1648C>G (p.Arg550Gly) c.1597C>G (p.Arg533Gly) c.1516C>G (p.Arg506Gly) n.1900C>G | |
X | g.18604572C>T | CA199285 | CDKL5 | c.1648C>T (p.Arg550Ter) c.1597C>T (p.Arg533Ter) c.1516C>T (p.Arg506Ter) n.1900C>T | ClinVar dbSNP COSMIC |
X | g.18604573G>A | CA10360400 | CDKL5 | c.1649G>A (p.Arg550Gln) c.1598G>A (p.Arg533Gln) c.1517G>A (p.Arg506Gln) n.1901G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.18604573G>C | CA412362116 | CDKL5 | c.1649G>C (p.Arg550Pro) c.1598G>C (p.Arg533Pro) c.1517G>C (p.Arg506Pro) n.1901G>C | |
X | g.18604573G= | CA2417974450 | CDKL5 | c.1649G= (p.Arg550=) c.1598G= (p.Arg533=) c.1517G= (p.Arg506=) n.1901G= | |
X | g.18604573G>T | CA412362113 | CDKL5 | c.1649G>T (p.Arg550Leu) c.1598G>T (p.Arg533Leu) c.1517G>T (p.Arg506Leu) n.1901G>T | |
X | g.18604574A>C | CA515627870 | CDKL5 | c.1650A>C (p.Arg550=) c.1599A>C (p.Arg533=) c.1518A>C (p.Arg506=) n.1902A>C | |
X | g.18604574A>G | CA515627871 | CDKL5 | c.1650A>G (p.Arg550=) c.1599A>G (p.Arg533=) c.1518A>G (p.Arg506=) n.1902A>G | |
X | g.18604574A>T | CA515627872 | CDKL5 | c.1650A>T (p.Arg550=) c.1599A>T (p.Arg533=) c.1518A>T (p.Arg506=) n.1902A>T | |
X | g.18604575A>C | CA412362117 | CDKL5 | c.1651A>C (p.Asn551His) c.1600A>C (p.Asn534His) c.1519A>C (p.Asn507His) n.1903A>C | |
X | g.18604575A>G | CA412362119 | CDKL5 | c.1651A>G (p.Asn551Asp) c.1600A>G (p.Asn534Asp) c.1519A>G (p.Asn507Asp) n.1903A>G | |
X | g.18604575A>T | CA412362121 | CDKL5 | c.1651A>T (p.Asn551Tyr) c.1600A>T (p.Asn534Tyr) c.1519A>T (p.Asn507Tyr) n.1903A>T | |
X | g.18604576A>C | CA412362123 | CDKL5 | c.1652A>C (p.Asn551Thr) c.1601A>C (p.Asn534Thr) c.1520A>C (p.Asn507Thr) n.1904A>C | |
X | g.18604576A>G | CA412362125 | CDKL5 | c.1652A>G (p.Asn551Ser) c.1601A>G (p.Asn534Ser) c.1520A>G (p.Asn507Ser) n.1904A>G | |
X | g.18604576A>T | CA412362127 | CDKL5 | c.1652A>T (p.Asn551Ile) c.1601A>T (p.Asn534Ile) c.1520A>T (p.Asn507Ile) n.1904A>T | |
X | g.18604577T>A | CA412362129 | CDKL5 | c.1653T>A (p.Asn551Lys) c.1602T>A (p.Asn534Lys) c.1521T>A (p.Asn507Lys) n.1905T>A | dbSNP gnomAD v3 gnomAD v4 |
X | g.18604577T>C | CA515627874 | CDKL5 | c.1653T>C (p.Asn551=) c.1602T>C (p.Asn534=) c.1521T>C (p.Asn507=) n.1905T>C | |
X | g.18604577T>G | CA412362130 | CDKL5 | c.1653T>G (p.Asn551Lys) c.1602T>G (p.Asn534Lys) c.1521T>G (p.Asn507Lys) n.1905T>G | |
X | g.18604577T= | CA2417974451 | CDKL5 | c.1653T= (p.Asn551=) c.1602T= (p.Asn534=) c.1521T= (p.Asn507=) n.1905T= | |
X | g.18604578G>A | CA412362134 | CDKL5 | c.1654G>A (p.Glu552Lys) c.1603G>A (p.Glu535Lys) c.1522G>A (p.Glu508Lys) n.1906G>A | |
X | g.18604578G>C | CA412362136 | CDKL5 | c.1654G>C (p.Glu552Gln) c.1603G>C (p.Glu535Gln) c.1522G>C (p.Glu508Gln) n.1906G>C | gnomAD v4 |
X | g.18604578G>T | CA412362138 | CDKL5 | c.1654G>T (p.Glu552Ter) c.1603G>T (p.Glu535Ter) c.1522G>T (p.Glu508Ter) n.1906G>T | |
X | g.18604579A>C | CA412362140 | CDKL5 | c.1655A>C (p.Glu552Ala) c.1604A>C (p.Glu535Ala) c.1523A>C (p.Glu508Ala) n.1907A>C | |
X | g.18604579A>G | CA412362144 | CDKL5 | c.1655A>G (p.Glu552Gly) c.1604A>G (p.Glu535Gly) c.1523A>G (p.Glu508Gly) n.1907A>G | |
X | g.18604579A>T | CA412362142 | CDKL5 | c.1655A>T (p.Glu552Val) c.1604A>T (p.Glu535Val) c.1523A>T (p.Glu508Val) n.1907A>T | |
X | g.18604580G>A | CA515627876 | CDKL5 | c.1656G>A (p.Glu552=) c.1605G>A (p.Glu535=) c.1524G>A (p.Glu508=) n.1908G>A | |
X | g.18604580G>C | CA412362146 | CDKL5 | c.1656G>C (p.Glu552Asp) c.1605G>C (p.Glu535Asp) c.1524G>C (p.Glu508Asp) n.1908G>C | |
X | g.18604580G>T | CA412362148 | CDKL5 | c.1656G>T (p.Glu552Asp) c.1605G>T (p.Glu535Asp) c.1524G>T (p.Glu508Asp) n.1908G>T | |
X | g.18604581G>A | CA412362150 | CDKL5 | c.1657G>A (p.Gly553Arg) c.1606G>A (p.Gly536Arg) c.1525G>A (p.Gly509Arg) n.1909G>A | ClinVar |
X | g.18604581G>C | CA412362152 | CDKL5 | c.1657G>C (p.Gly553Arg) c.1606G>C (p.Gly536Arg) c.1525G>C (p.Gly509Arg) n.1909G>C | |
X | g.18604581G>T | CA412362153 | CDKL5 | c.1657G>T (p.Gly553Ter) c.1606G>T (p.Gly536Ter) c.1525G>T (p.Gly509Ter) n.1909G>T | |
X | g.18604582G>A | CA412362156 | CDKL5 | c.1658G>A (p.Gly553Glu) c.1607G>A (p.Gly536Glu) c.1526G>A (p.Gly509Glu) n.1910G>A | gnomAD v4 |
X | g.18604582G>C | CA412362158 | CDKL5 | c.1658G>C (p.Gly553Ala) c.1607G>C (p.Gly536Ala) c.1526G>C (p.Gly509Ala) n.1910G>C | |
X | g.18604582G= | CA2417974452 | CDKL5 | c.1658G= (p.Gly553=) c.1607G= (p.Gly536=) c.1526G= (p.Gly509=) n.1910G= | |
X | g.18604582G>T | CA412362159 | CDKL5 | c.1658G>T (p.Gly553Val) c.1607G>T (p.Gly536Val) c.1526G>T (p.Gly509Val) n.1910G>T | dbSNP gnomAD v2 |
X | g.18604583A>C | CA515627880 | CDKL5 | c.1659A>C (p.Gly553=) c.1608A>C (p.Gly536=) c.1527A>C (p.Gly509=) n.1911A>C | |
X | g.18604583A>G | CA515627881 | CDKL5 | c.1659A>G (p.Gly553=) c.1608A>G (p.Gly536=) c.1527A>G (p.Gly509=) n.1911A>G | |
X | g.18604583A>T | CA515627882 | CDKL5 | c.1659A>T (p.Gly553=) c.1608A>T (p.Gly536=) c.1527A>T (p.Gly509=) n.1911A>T | |
X | g.18604584A>C | CA412362161 | CDKL5 | c.1660A>C (p.Thr554Pro) c.1609A>C (p.Thr537Pro) c.1528A>C (p.Thr510Pro) n.1912A>C | |
X | g.18604584A>G | CA412362162 | CDKL5 | c.1660A>G (p.Thr554Ala) c.1609A>G (p.Thr537Ala) c.1528A>G (p.Thr510Ala) n.1912A>G | |
X | g.18604584A>T | CA412362163 | CDKL5 | c.1660A>T (p.Thr554Ser) c.1609A>T (p.Thr537Ser) c.1528A>T (p.Thr510Ser) n.1912A>T | |
X | g.18604585C>A | CA412362166 | CDKL5 | c.1661C>A (p.Thr554Lys) c.1610C>A (p.Thr537Lys) c.1529C>A (p.Thr510Lys) n.1913C>A | |
X | g.18604585C= | CA2417974453 | CDKL5 | c.1661C= (p.Thr554=) c.1610C= (p.Thr537=) c.1529C= (p.Thr510=) n.1913C= | |
X | g.18604585C>G | CA412362167 | CDKL5 | c.1661C>G (p.Thr554Arg) c.1610C>G (p.Thr537Arg) c.1529C>G (p.Thr510Arg) n.1913C>G | |
X | g.18604585C>T | CA412362169 | CDKL5 | c.1661C>T (p.Thr554Met) c.1610C>T (p.Thr537Met) c.1529C>T (p.Thr510Met) n.1913C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604586G>A | CA10360401 | CDKL5 | c.1662G>A (p.Thr554=) c.1611G>A (p.Thr537=) c.1530G>A (p.Thr510=) n.1914G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604586G>C | CA515627884 | CDKL5 | c.1662G>C (p.Thr554=) c.1611G>C (p.Thr537=) c.1530G>C (p.Thr510=) n.1914G>C | |
X | g.18604586G= | CA2417974454 | CDKL5 | c.1662G= (p.Thr554=) c.1611G= (p.Thr537=) c.1530G= (p.Thr510=) n.1914G= | |
X | g.18604586G>T | CA515627883 | CDKL5 | c.1662G>T (p.Thr554=) c.1611G>T (p.Thr537=) c.1530G>T (p.Thr510=) n.1914G>T | dbSNP |
X | g.18604587C>A | CA412362172 | CDKL5 | c.1663C>A (p.Leu555Met) c.1612C>A (p.Leu538Met) c.1531C>A (p.Leu511Met) n.1915C>A | |
X | g.18604587C= | CA2417974455 | CDKL5 | c.1663C= (p.Leu555=) c.1612C= (p.Leu538=) c.1531C= (p.Leu511=) n.1915C= | |
X | g.18604587C>G | CA412362175 | CDKL5 | c.1663C>G (p.Leu555Val) c.1612C>G (p.Leu538Val) c.1531C>G (p.Leu511Val) n.1915C>G | |
X | g.18604587C>T | CA10360402 | CDKL5 | c.1663C>T (p.Leu555=) c.1612C>T (p.Leu538=) c.1531C>T (p.Leu511=) n.1915C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604588T>A | CA412362177 | CDKL5 | c.1664T>A (p.Leu555Gln) c.1613T>A (p.Leu538Gln) c.1532T>A (p.Leu511Gln) n.1916T>A | |
X | g.18604588T>C | CA412362179 | CDKL5 | c.1664T>C (p.Leu555Pro) c.1613T>C (p.Leu538Pro) c.1532T>C (p.Leu511Pro) n.1916T>C | gnomAD v4 |
X | g.18604588T>G | CA412362181 | CDKL5 | c.1664T>G (p.Leu555Arg) c.1613T>G (p.Leu538Arg) c.1532T>G (p.Leu511Arg) n.1916T>G | |
X | g.18604589G>A | CA515627887 | CDKL5 | c.1665G>A (p.Leu555=) c.1614G>A (p.Leu538=) c.1533G>A (p.Leu511=) n.1917G>A | |
X | g.18604589G>C | CA515627886 | CDKL5 | c.1665G>C (p.Leu555=) c.1614G>C (p.Leu538=) c.1533G>C (p.Leu511=) n.1917G>C | |
X | g.18604589G>T | CA515627885 | CDKL5 | c.1665G>T (p.Leu555=) c.1614G>T (p.Leu538=) c.1533G>T (p.Leu511=) n.1917G>T | |
X | g.18604590G>A | CA412362183 | CDKL5 | c.1666G>A (p.Asp556Asn) c.1615G>A (p.Asp539Asn) c.1534G>A (p.Asp512Asn) n.1918G>A | |
X | g.18604590G>C | CA412362185 | CDKL5 | c.1666G>C (p.Asp556His) c.1615G>C (p.Asp539His) c.1534G>C (p.Asp512His) n.1918G>C | |
X | g.18604590G>T | CA412362187 | CDKL5 | c.1666G>T (p.Asp556Tyr) c.1615G>T (p.Asp539Tyr) c.1534G>T (p.Asp512Tyr) n.1918G>T | |
X | g.18604591A>C | CA412362189 | CDKL5 | c.1667A>C (p.Asp556Ala) c.1616A>C (p.Asp539Ala) c.1535A>C (p.Asp512Ala) n.1919A>C | |
X | g.18604591A>G | CA412362191 | CDKL5 | c.1667A>G (p.Asp556Gly) c.1616A>G (p.Asp539Gly) c.1535A>G (p.Asp512Gly) n.1919A>G | ClinVar dbSNP |
X | g.18604591A>T | CA412362194 | CDKL5 | c.1667A>T (p.Asp556Val) c.1616A>T (p.Asp539Val) c.1535A>T (p.Asp512Val) n.1919A>T | |
X | g.18604592C>A | CA412362197 | CDKL5 | c.1668C>A (p.Asp556Glu) c.1617C>A (p.Asp539Glu) c.1536C>A (p.Asp512Glu) n.1920C>A | |
X | g.18604592C>G | CA412362199 | CDKL5 | c.1668C>G (p.Asp556Glu) c.1617C>G (p.Asp539Glu) c.1536C>G (p.Asp512Glu) n.1920C>G | |
X | g.18604592C>T | CA515627888 | CDKL5 | c.1668C>T (p.Asp556=) c.1617C>T (p.Asp539=) c.1536C>T (p.Asp512=) n.1920C>T | |
X | g.18604593T>A | CA412362203 | CDKL5 | c.1669T>A (p.Ser557Thr) c.1618T>A (p.Ser540Thr) c.1537T>A (p.Ser513Thr) n.1921T>A | |
X | g.18604593T>C | CA412362205 | CDKL5 | c.1669T>C (p.Ser557Pro) c.1618T>C (p.Ser540Pro) c.1537T>C (p.Ser513Pro) n.1921T>C | |
X | g.18604593T>G | CA412362201 | CDKL5 | c.1669T>G (p.Ser557Ala) c.1618T>G (p.Ser540Ala) c.1537T>G (p.Ser513Ala) n.1921T>G | |
X | g.18604594C>A | CA412362207 | CDKL5 | c.1670C>A (p.Ser557Ter) c.1619C>A (p.Ser540Ter) c.1538C>A (p.Ser513Ter) n.1922C>A | |
X | g.18604594C= | CA2417974456 | CDKL5 | c.1670C= (p.Ser557=) c.1619C= (p.Ser540=) c.1538C= (p.Ser513=) n.1922C= | |
X | g.18604594C>G | CA294732 | CDKL5 | c.1670C>G (p.Ser557Ter) c.1619C>G (p.Ser540Ter) c.1538C>G (p.Ser513Ter) n.1922C>G | ClinVar dbSNP |
X | g.18604594C>T | CA412362210 | CDKL5 | c.1670C>T (p.Ser557Leu) c.1619C>T (p.Ser540Leu) c.1538C>T (p.Ser513Leu) n.1922C>T | |
X | g.18604595A= | CA2417974457 | CDKL5 | c.1671A= (p.Ser557=) c.1620A= (p.Ser540=) c.1539A= (p.Ser513=) n.1923A= | |
X | g.18604595A>C | CA326987859 | CDKL5 | c.1671A>C (p.Ser557=) c.1620A>C (p.Ser540=) c.1539A>C (p.Ser513=) n.1923A>C | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604595A>G | CA515627889 | CDKL5 | c.1671A>G (p.Ser557=) c.1620A>G (p.Ser540=) c.1539A>G (p.Ser513=) n.1923A>G | COSMIC |
X | g.18604595A>T | CA515627890 | CDKL5 | c.1671A>T (p.Ser557=) c.1620A>T (p.Ser540=) c.1539A>T (p.Ser513=) n.1923A>T | |
X | g.18604595dup | CA294681 | CDKL5 | c.1671dup (p.Arg558ThrfsTer9) c.1620dup (p.Arg541ThrfsTer9) c.1539dup (p.Arg514ThrfsTer9) n.1923dup | ClinVar dbSNP |
X | g.18604596del | CA2695231309 | CDKL5 | c.1672del (p.Arg558ValfsTer14) c.1621del (p.Arg541ValfsTer14) c.1540del (p.Arg514ValfsTer14) n.1924del | |
X | g.18604596C>A | CA412362212 | CDKL5 | c.1672C>A (p.Arg558Ser) c.1621C>A (p.Arg541Ser) c.1540C>A (p.Arg514Ser) n.1924C>A | gnomAD v4 |
X | g.18604596C= | CA2417974458 | CDKL5 | c.1672C= (p.Arg558=) c.1621C= (p.Arg541=) c.1540C= (p.Arg514=) n.1924C= | |
X | g.18604596C>G | CA412362214 | CDKL5 | c.1672C>G (p.Arg558Gly) c.1621C>G (p.Arg541Gly) c.1540C>G (p.Arg514Gly) n.1924C>G | |
X | g.18604596C>T | CA10360403 | CDKL5 | c.1672C>T (p.Arg558Cys) c.1621C>T (p.Arg541Cys) c.1540C>T (p.Arg514Cys) n.1924C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |