Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18604505delCA2695231302CDKL5c.1581del (p.Thr528ProfsTer?)
c.1530del (p.Thr511ProfsTer?)
c.1449del (p.Thr484ProfsTer?)
n.1833del
Xg.18604505C>ACA515627763CDKL5c.1581C>A (p.Pro527=)
c.1530C>A (p.Pro510=)
c.1449C>A (p.Pro483=)
n.1833C>A
Xg.18604505C>GCA515627764CDKL5c.1581C>G (p.Pro527=)
c.1530C>G (p.Pro510=)
c.1449C>G (p.Pro483=)
n.1833C>G
Xg.18604505C>TCA515627765CDKL5c.1581C>T (p.Pro527=)
c.1530C>T (p.Pro510=)
c.1449C>T (p.Pro483=)
n.1833C>T
Xg.18604506A>CCA412361770CDKL5c.1582A>C (p.Thr528Pro)
c.1531A>C (p.Thr511Pro)
c.1450A>C (p.Thr484Pro)
n.1834A>C
Xg.18604506A>GCA412361774CDKL5c.1582A>G (p.Thr528Ala)
c.1531A>G (p.Thr511Ala)
c.1450A>G (p.Thr484Ala)
n.1834A>G
 gnomAD v4
Xg.18604506A>TCA412361777CDKL5c.1582A>T (p.Thr528Ser)
c.1531A>T (p.Thr511Ser)
c.1450A>T (p.Thr484Ser)
n.1834A>T
Xg.18604507C>ACA412361780CDKL5c.1583C>A (p.Thr528Asn)
c.1532C>A (p.Thr511Asn)
c.1451C>A (p.Thr484Asn)
n.1835C>A
 gnomAD v4
Xg.18604507C>GCA412361783CDKL5c.1583C>G (p.Thr528Ser)
c.1532C>G (p.Thr511Ser)
c.1451C>G (p.Thr484Ser)
n.1835C>G
Xg.18604507C>TCA412361786CDKL5c.1583C>T (p.Thr528Ile)
c.1532C>T (p.Thr511Ile)
c.1451C>T (p.Thr484Ile)
n.1835C>T
 gnomAD v4
Xg.18604508dupCA2499226536CDKL5c.1584dup (p.Ser529GlnfsTer9)
c.1533dup (p.Ser512GlnfsTer9)
c.1452dup (p.Ser485GlnfsTer9)
n.1836dup
 ClinVar dbSNP
Xg.18604508C>ACA515627771CDKL5c.1584C>A (p.Thr528=)
c.1533C>A (p.Thr511=)
c.1452C>A (p.Thr484=)
n.1836C>A
Xg.18604508C>GCA515627773CDKL5c.1584C>G (p.Thr528=)
c.1533C>G (p.Thr511=)
c.1452C>G (p.Thr484=)
n.1836C>G
Xg.18604508C>TCA515627774CDKL5c.1584C>T (p.Thr528=)
c.1533C>T (p.Thr511=)
c.1452C>T (p.Thr484=)
n.1836C>T
Xg.18604509A=CA2417974431CDKL5c.1585A= (p.Ser529=)
c.1534A= (p.Ser512=)
c.1453A= (p.Ser485=)
n.1837A=
Xg.18604509A>CCA326987836CDKL5c.1585A>C (p.Ser529Arg)
c.1534A>C (p.Ser512Arg)
c.1453A>C (p.Ser485Arg)
n.1837A>C
 dbSNP
Xg.18604509A>GCA412361789CDKL5c.1585A>G (p.Ser529Gly)
c.1534A>G (p.Ser512Gly)
c.1453A>G (p.Ser485Gly)
n.1837A>G
Xg.18604509A>TCA412361793CDKL5c.1585A>T (p.Ser529Cys)
c.1534A>T (p.Ser512Cys)
c.1453A>T (p.Ser485Cys)
n.1837A>T
Xg.18604510G>ACA412361796CDKL5c.1586G>A (p.Ser529Asn)
c.1535G>A (p.Ser512Asn)
c.1454G>A (p.Ser485Asn)
n.1838G>A
Xg.18604510G>CCA10360396CDKL5c.1586G>C (p.Ser529Thr)
c.1535G>C (p.Ser512Thr)
c.1454G>C (p.Ser485Thr)
n.1838G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18604510G=CA2417974432CDKL5c.1586G= (p.Ser529=)
c.1535G= (p.Ser512=)
c.1454G= (p.Ser485=)
n.1838G=
Xg.18604510G>TCA412361803CDKL5c.1586G>T (p.Ser529Ile)
c.1535G>T (p.Ser512Ile)
c.1454G>T (p.Ser485Ile)
n.1838G>T
 dbSNP
Xg.18604511C>ACA412361809CDKL5c.1587C>A (p.Ser529Arg)
c.1536C>A (p.Ser512Arg)
c.1455C>A (p.Ser485Arg)
n.1839C>A
Xg.18604511C>GCA412361811CDKL5c.1587C>G (p.Ser529Arg)
c.1536C>G (p.Ser512Arg)
c.1455C>G (p.Ser485Arg)
n.1839C>G
Xg.18604511C>TCA515627781CDKL5c.1587C>T (p.Ser529=)
c.1536C>T (p.Ser512=)
c.1455C>T (p.Ser485=)
n.1839C>T
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

Number of alleles fetched