Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18604512C>ACA412361815CDKL5c.1588C>A (p.Pro530Thr)
c.1537C>A (p.Pro513Thr)
c.1456C>A (p.Pro486Thr)
n.1840C>A
Xg.18604512C>GCA412361818CDKL5c.1588C>G (p.Pro530Ala)
c.1537C>G (p.Pro513Ala)
c.1456C>G (p.Pro486Ala)
n.1840C>G
Xg.18604512C>TCA412361820CDKL5c.1588C>T (p.Pro530Ser)
c.1537C>T (p.Pro513Ser)
c.1456C>T (p.Pro486Ser)
n.1840C>T
Xg.18604513C>ACA412361825CDKL5c.1589C>A (p.Pro530Gln)
c.1538C>A (p.Pro513Gln)
c.1457C>A (p.Pro486Gln)
n.1841C>A
Xg.18604513C>GCA412361828CDKL5c.1589C>G (p.Pro530Arg)
c.1538C>G (p.Pro513Arg)
c.1457C>G (p.Pro486Arg)
n.1841C>G
Xg.18604513C>TCA412361831CDKL5c.1589C>T (p.Pro530Leu)
c.1538C>T (p.Pro513Leu)
c.1457C>T (p.Pro486Leu)
n.1841C>T
 COSMIC
Xg.18604515_18604528delCA2695231304CDKL5c.1591_1604del (p.Thr531GlnfsTer2)
c.1540_1553del (p.Thr514GlnfsTer2)
c.1459_1472del (p.Thr487GlnfsTer2)
n.1843_1856del
Xg.18604514A=CA2417974433CDKL5c.1590A= (p.Pro530=)
c.1539A= (p.Pro513=)
c.1458A= (p.Pro486=)
n.1842A=
Xg.18604514A>CCA326987840CDKL5c.1590A>C (p.Pro530=)
c.1539A>C (p.Pro513=)
c.1458A>C (p.Pro486=)
n.1842A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.18604514A>GCA515627784CDKL5c.1590A>G (p.Pro530=)
c.1539A>G (p.Pro513=)
c.1458A>G (p.Pro486=)
n.1842A>G
Xg.18604514A>TCA515627785CDKL5c.1590A>T (p.Pro530=)
c.1539A>T (p.Pro513=)
c.1458A>T (p.Pro486=)
n.1842A>T
Xg.18604515A=CA2417974434CDKL5c.1591A= (p.Thr531=)
c.1540A= (p.Thr514=)
c.1459A= (p.Thr487=)
n.1843A=
Xg.18604515A>CCA412361836CDKL5c.1591A>C (p.Thr531Pro)
c.1540A>C (p.Thr514Pro)
c.1459A>C (p.Thr487Pro)
n.1843A>C
Xg.18604515A>GCA213381CDKL5c.1591A>G (p.Thr531Ala)
c.1540A>G (p.Thr514Ala)
c.1459A>G (p.Thr487Ala)
n.1843A>G
 ClinVar dbSNP ExAC gnomAD v2
Xg.18604515A>TCA412361844CDKL5c.1591A>T (p.Thr531Ser)
c.1540A>T (p.Thr514Ser)
c.1459A>T (p.Thr487Ser)
n.1843A>T
Xg.18604515_18604516insACACA2819902189CDKL5c.1591_1592insACA (p.Pro530_Thr531insAsn)
c.1540_1541insACA (p.Pro513_Thr514insAsn)
c.1459_1460insACA (p.Pro486_Thr487insAsn)
n.1843_1844insACA
Xg.18604515_18604516delinsACCA2417974435CDKL5c.1591_1592delinsAC (p.Thr531=)
c.1540_1541delinsAC (p.Thr514=)
c.1459_1460delinsAC (p.Thr487=)
n.1843_1844delinsAC
Xg.18604516C>ACA412361853CDKL5c.1592C>A (p.Thr531Asn)
c.1541C>A (p.Thr514Asn)
c.1460C>A (p.Thr487Asn)
n.1844C>A
Xg.18604516C=CA2417974436CDKL5c.1592C= (p.Thr531=)
c.1541C= (p.Thr514=)
c.1460C= (p.Thr487=)
n.1844C=
Xg.18604516C>GCA412361850CDKL5c.1592C>G (p.Thr531Ser)
c.1541C>G (p.Thr514Ser)
c.1460C>G (p.Thr487Ser)
n.1844C>G
Xg.18604516C>TCA412361848CDKL5c.1592C>T (p.Thr531Ile)
c.1541C>T (p.Thr514Ile)
c.1460C>T (p.Thr487Ile)
n.1844C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.18604518_18604519insACCCCCA2819902193CDKL5c.1594_1595insACCCC (p.Pro532HisfsTer?)
c.1543_1544insACCCC (p.Pro515HisfsTer?)
c.1462_1463insACCCC (p.Pro488HisfsTer?)
n.1846_1847insACCCC
Xg.18604520delCA658825120CDKL5c.1596del (p.Thr533ProfsTer?)
c.1545del (p.Thr516ProfsTer?)
c.1464del (p.Thr489ProfsTer?)
n.1848del
 ClinVar dbSNP
Xg.18604517C>ACA515627791CDKL5c.1593C>A (p.Thr531=)
c.1542C>A (p.Thr514=)
c.1461C>A (p.Thr487=)
n.1845C>A
Xg.18604517C>GCA515627790CDKL5c.1593C>G (p.Thr531=)
c.1542C>G (p.Thr514=)
c.1461C>G (p.Thr487=)
n.1845C>G
Xg.18604517C>TCA515627789CDKL5c.1593C>T (p.Thr531=)
c.1542C>T (p.Thr514=)
c.1461C>T (p.Thr487=)
n.1845C>T
Xg.18604518C>ACA412361857CDKL5c.1594C>A (p.Pro532Thr)
c.1543C>A (p.Pro515Thr)
c.1462C>A (p.Pro488Thr)
n.1846C>A
Xg.18604518C>GCA412361859CDKL5c.1594C>G (p.Pro532Ala)
c.1543C>G (p.Pro515Ala)
c.1462C>G (p.Pro488Ala)
n.1846C>G
 gnomAD v4
Xg.18604518C>TCA412361860CDKL5c.1594C>T (p.Pro532Ser)
c.1543C>T (p.Pro515Ser)
c.1462C>T (p.Pro488Ser)
n.1846C>T
 gnomAD v4
Xg.18604519C>ACA412361863CDKL5c.1595C>A (p.Pro532His)
c.1544C>A (p.Pro515His)
c.1463C>A (p.Pro488His)
n.1847C>A
Xg.18604519C>GCA412361866CDKL5c.1595C>G (p.Pro532Arg)
c.1544C>G (p.Pro515Arg)
c.1463C>G (p.Pro488Arg)
n.1847C>G
Xg.18604519C>TCA412361869CDKL5c.1595C>T (p.Pro532Leu)
c.1544C>T (p.Pro515Leu)
c.1463C>T (p.Pro488Leu)
n.1847C>T
 COSMIC
Xg.18604520C>ACA326987843CDKL5c.1596C>A (p.Pro532=)
c.1545C>A (p.Pro515=)
c.1464C>A (p.Pro488=)
n.1848C>A
 dbSNP gnomAD v4
Xg.18604520C=CA2417974437CDKL5c.1596C= (p.Pro532=)
c.1545C= (p.Pro515=)
c.1464C= (p.Pro488=)
n.1848C=
Xg.18604520C>GCA515627794CDKL5c.1596C>G (p.Pro532=)
c.1545C>G (p.Pro515=)
c.1464C>G (p.Pro488=)
n.1848C>G
Xg.18604520C>TCA515627795CDKL5c.1596C>T (p.Pro532=)
c.1545C>T (p.Pro515=)
c.1464C>T (p.Pro488=)
n.1848C>T
 ClinVar
Xg.18604521A>CCA412361873CDKL5c.1597A>C (p.Thr533Pro)
c.1546A>C (p.Thr516Pro)
c.1465A>C (p.Thr489Pro)
n.1849A>C
Xg.18604521A>GCA412361874CDKL5c.1597A>G (p.Thr533Ala)
c.1546A>G (p.Thr516Ala)
c.1465A>G (p.Thr489Ala)
n.1849A>G
Xg.18604521A>TCA412361883CDKL5c.1597A>T (p.Thr533Ser)
c.1546A>T (p.Thr516Ser)
c.1465A>T (p.Thr489Ser)
n.1849A>T
Xg.18604521_18604522insAACACACCA2819902202CDKL5c.1597_1598insAACACAC (p.Thr533LysfsTer7)
c.1546_1547insAACACAC (p.Thr516LysfsTer7)
c.1465_1466insAACACAC (p.Thr489LysfsTer7)
n.1849_1850insAACACAC
Xg.18604522C>ACA412361886CDKL5c.1598C>A (p.Thr533Asn)
c.1547C>A (p.Thr516Asn)
c.1466C>A (p.Thr489Asn)
n.1850C>A
Xg.18604522C=CA2417974438CDKL5c.1598C= (p.Thr533=)
c.1547C= (p.Thr516=)
c.1466C= (p.Thr489=)
n.1850C=
Xg.18604522C>GCA412361887CDKL5c.1598C>G (p.Thr533Ser)
c.1547C>G (p.Thr516Ser)
c.1466C>G (p.Thr489Ser)
n.1850C>G
 dbSNP gnomAD v3 gnomAD v4
Xg.18604522C>TCA412361889CDKL5c.1598C>T (p.Thr533Ile)
c.1547C>T (p.Thr516Ile)
c.1466C>T (p.Thr489Ile)
n.1850C>T
Xg.18604522_18604525delCA2819902203CDKL5c.1598_1601del (p.Thr533AsnfsTer?)
c.1547_1550del (p.Thr516AsnfsTer?)
c.1466_1469del (p.Thr489AsnfsTer?)
n.1850_1853del
Xg.18604523C>ACA515627799CDKL5c.1599C>A (p.Thr533=)
c.1548C>A (p.Thr516=)
c.1467C>A (p.Thr489=)
n.1851C>A
Xg.18604523C>GCA515627801CDKL5c.1599C>G (p.Thr533=)
c.1548C>G (p.Thr516=)
c.1467C>G (p.Thr489=)
n.1851C>G
Xg.18604523C>TCA515627800CDKL5c.1599C>T (p.Thr533=)
c.1548C>T (p.Thr516=)
c.1467C>T (p.Thr489=)
n.1851C>T
 gnomAD v4
Xg.18604524A=CA2417974439CDKL5c.1600A= (p.Arg534=)
c.1549A= (p.Arg517=)
c.1468A= (p.Arg490=)
n.1852A=
Xg.18604524A>CCA515627802CDKL5c.1600A>C (p.Arg534=)
c.1549A>C (p.Arg517=)
c.1468A>C (p.Arg490=)
n.1852A>C

Number of alleles fetched