Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18604267_18604286delinsTGGAAAGCTCTCAAAGCAAACA2417974056CDKL5c.1343_1362delinsTGGAAAGCTCTCAAAGCAAA (p.Met448=)
c.1292_1311delinsTGGAAAGCTCTCAAAGCAAA (p.Met431=)
c.1211_1230delinsTGGAAAGCTCTCAAAGCAAA (p.Met404=)
n.1595_1614delinsTGGAAAGCTCTCAAAGCAAA
Xg.18604269_18604287delCA294680CDKL5c.1345_1363del (p.Glu449LeufsTer?)
c.1294_1312del (p.Glu432LeufsTer?)
c.1213_1231del (p.Glu405LeufsTer?)
n.1597_1615del
 ClinVar dbSNP
Xg.18604277T>ACA515627718CDKL5c.1353T>A (p.Ser451=)
c.1302T>A (p.Ser434=)
c.1221T>A (p.Ser407=)
n.1605T>A
Xg.18604277T>CCA515627723CDKL5c.1353T>C (p.Ser451=)
c.1302T>C (p.Ser434=)
c.1221T>C (p.Ser407=)
n.1605T>C
Xg.18604277T>GCA515627725CDKL5c.1353T>G (p.Ser451=)
c.1302T>G (p.Ser434=)
c.1221T>G (p.Ser407=)
n.1605T>G
Xg.18604278C>ACA412360563CDKL5c.1354C>A (p.Gln452Lys)
c.1303C>A (p.Gln435Lys)
c.1222C>A (p.Gln408Lys)
n.1606C>A
Xg.18604278C=CA2417974086CDKL5c.1354C= (p.Gln452=)
c.1303C= (p.Gln435=)
c.1222C= (p.Gln408=)
n.1606C=
Xg.18604278C>GCA412360564CDKL5c.1354C>G (p.Gln452Glu)
c.1303C>G (p.Gln435Glu)
c.1222C>G (p.Gln408Glu)
n.1606C>G
 gnomAD v4
Xg.18604278C>TCA412360565CDKL5c.1354C>T (p.Gln452Ter)
c.1303C>T (p.Gln435Ter)
c.1222C>T (p.Gln408Ter)
n.1606C>T
 ClinVar dbSNP
Xg.18604279A>CCA412360571CDKL5c.1355A>C (p.Gln452Pro)
c.1304A>C (p.Gln435Pro)
c.1223A>C (p.Gln408Pro)
n.1607A>C
Xg.18604279A>GCA412360570CDKL5c.1355A>G (p.Gln452Arg)
c.1304A>G (p.Gln435Arg)
c.1223A>G (p.Gln408Arg)
n.1607A>G
Xg.18604279A>TCA412360568CDKL5c.1355A>T (p.Gln452Leu)
c.1304A>T (p.Gln435Leu)
c.1223A>T (p.Gln408Leu)
n.1607A>T
Xg.18604280A>CCA412360572CDKL5c.1356A>C (p.Gln452His)
c.1305A>C (p.Gln435His)
c.1224A>C (p.Gln408His)
n.1608A>C
Xg.18604280A>GCA515627727CDKL5c.1356A>G (p.Gln452=)
c.1305A>G (p.Gln435=)
c.1224A>G (p.Gln408=)
n.1608A>G
Xg.18604280A>TCA412360573CDKL5c.1356A>T (p.Gln452His)
c.1305A>T (p.Gln435His)
c.1224A>T (p.Gln408His)
n.1608A>T
Xg.18604281A>CCA412360574CDKL5c.1357A>C (p.Ser453Arg)
c.1306A>C (p.Ser436Arg)
c.1225A>C (p.Ser409Arg)
n.1609A>C
Xg.18604281A>GCA412360575CDKL5c.1357A>G (p.Ser453Gly)
c.1306A>G (p.Ser436Gly)
c.1225A>G (p.Ser409Gly)
n.1609A>G
Xg.18604281A>TCA412360576CDKL5c.1357A>T (p.Ser453Cys)
c.1306A>T (p.Ser436Cys)
c.1225A>T (p.Ser409Cys)
n.1609A>T
Xg.18604282G>ACA412360578CDKL5c.1358G>A (p.Ser453Asn)
c.1307G>A (p.Ser436Asn)
c.1226G>A (p.Ser409Asn)
n.1610G>A
 gnomAD v4
Xg.18604282G>CCA412360580CDKL5c.1358G>C (p.Ser453Thr)
c.1307G>C (p.Ser436Thr)
c.1226G>C (p.Ser409Thr)
n.1610G>C
Xg.18604282G>TCA412360582CDKL5c.1358G>T (p.Ser453Ile)
c.1307G>T (p.Ser436Ile)
c.1226G>T (p.Ser409Ile)
n.1610G>T
Xg.18604283C>ACA412360583CDKL5c.1359C>A (p.Ser453Arg)
c.1308C>A (p.Ser436Arg)
c.1227C>A (p.Ser409Arg)
n.1611C>A
Xg.18604283C>GCA412360585CDKL5c.1359C>G (p.Ser453Arg)
c.1308C>G (p.Ser436Arg)
c.1227C>G (p.Ser409Arg)
n.1611C>G
Xg.18604283C>TCA515627733CDKL5c.1359C>T (p.Ser453=)
c.1308C>T (p.Ser436=)
c.1227C>T (p.Ser409=)
n.1611C>T
Xg.18604284A=CA2417974088CDKL5c.1360A= (p.Lys454=)
c.1309A= (p.Lys437=)
c.1228A= (p.Lys410=)
n.1612A=
Xg.18604284A>CCA412360586CDKL5c.1360A>C (p.Lys454Gln)
c.1309A>C (p.Lys437Gln)
c.1228A>C (p.Lys410Gln)
n.1612A>C
Xg.18604284A>GCA412360587CDKL5c.1360A>G (p.Lys454Glu)
c.1309A>G (p.Lys437Glu)
c.1228A>G (p.Lys410Glu)
n.1612A>G
 dbSNP
Xg.18604284A>TCA412360591CDKL5c.1360A>T (p.Lys454Ter)
c.1309A>T (p.Lys437Ter)
c.1228A>T (p.Lys410Ter)
n.1612A>T
Xg.18604285A>CCA412360595CDKL5c.1361A>C (p.Lys454Thr)
c.1310A>C (p.Lys437Thr)
c.1229A>C (p.Lys410Thr)
n.1613A>C
Xg.18604285A>GCA412360594CDKL5c.1361A>G (p.Lys454Arg)
c.1310A>G (p.Lys437Arg)
c.1229A>G (p.Lys410Arg)
n.1613A>G
Xg.18604285A>TCA412360593CDKL5c.1361A>T (p.Lys454Ile)
c.1310A>T (p.Lys437Ile)
c.1229A>T (p.Lys410Ile)
n.1613A>T
Xg.18604286A>CCA412360598CDKL5c.1362A>C (p.Lys454Asn)
c.1311A>C (p.Lys437Asn)
c.1230A>C (p.Lys410Asn)
n.1614A>C
Xg.18604286A>GCA515627738CDKL5c.1362A>G (p.Lys454=)
c.1311A>G (p.Lys437=)
c.1230A>G (p.Lys410=)
n.1614A>G
 COSMIC
Xg.18604286A>TCA412360596CDKL5c.1362A>T (p.Lys454Asn)
c.1311A>T (p.Lys437Asn)
c.1230A>T (p.Lys410Asn)
n.1614A>T
Xg.18604287G>ACA412360602CDKL5c.1363G>A (p.Ala455Thr)
c.1312G>A (p.Ala438Thr)
c.1231G>A (p.Ala411Thr)
n.1615G>A
 COSMIC
Xg.18604287G>CCA412360600CDKL5c.1363G>C (p.Ala455Pro)
c.1312G>C (p.Ala438Pro)
c.1231G>C (p.Ala411Pro)
n.1615G>C
 gnomAD v4
Xg.18604287G>TCA412360604CDKL5c.1363G>T (p.Ala455Ser)
c.1312G>T (p.Ala438Ser)
c.1231G>T (p.Ala411Ser)
n.1615G>T
Xg.18604288C>ACA412360606CDKL5c.1364C>A (p.Ala455Asp)
c.1313C>A (p.Ala438Asp)
c.1232C>A (p.Ala411Asp)
n.1616C>A
Xg.18604288C>GCA412360608CDKL5c.1364C>G (p.Ala455Gly)
c.1313C>G (p.Ala438Gly)
c.1232C>G (p.Ala411Gly)
n.1616C>G
Xg.18604288C>TCA412360609CDKL5c.1364C>T (p.Ala455Val)
c.1313C>T (p.Ala438Val)
c.1232C>T (p.Ala411Val)
n.1616C>T
 gnomAD v4
Xg.18604289T>ACA515627754CDKL5c.1365T>A (p.Ala455=)
c.1314T>A (p.Ala438=)
c.1233T>A (p.Ala411=)
n.1617T>A
Xg.18604289T>CCA515627752CDKL5c.1365T>C (p.Ala455=)
c.1314T>C (p.Ala438=)
c.1233T>C (p.Ala411=)
n.1617T>C
Xg.18604289T>GCA515627751CDKL5c.1365T>G (p.Ala455=)
c.1314T>G (p.Ala438=)
c.1233T>G (p.Ala411=)
n.1617T>G
Xg.18604289T=CA2417974090CDKL5c.1365T= (p.Ala455=)
c.1314T= (p.Ala438=)
c.1233T= (p.Ala411=)
n.1617T=
Xg.18604289_18604290insACA10606737CDKL5c.1365_1366insA (p.Gly456ArgfsTer7)
c.1314_1315insA (p.Gly439ArgfsTer7)
c.1233_1234insA (p.Gly412ArgfsTer7)
n.1617_1618insA
 ClinVar dbSNP
Xg.18604290G>ACA412360611CDKL5c.1366G>A (p.Gly456Arg)
c.1315G>A (p.Gly439Arg)
c.1234G>A (p.Gly412Arg)
n.1618G>A
Xg.18604290G>CCA412360613CDKL5c.1366G>C (p.Gly456Arg)
c.1315G>C (p.Gly439Arg)
c.1234G>C (p.Gly412Arg)
n.1618G>C
Xg.18604290G>TCA412360615CDKL5c.1366G>T (p.Gly456Trp)
c.1315G>T (p.Gly439Trp)
c.1234G>T (p.Gly412Trp)
n.1618G>T
Xg.18604291G>ACA412360616CDKL5c.1367G>A (p.Gly456Glu)
c.1316G>A (p.Gly439Glu)
c.1235G>A (p.Gly412Glu)
n.1619G>A
 COSMIC
Xg.18604291G>CCA10360377CDKL5c.1367G>C (p.Gly456Ala)
c.1316G>C (p.Gly439Ala)
c.1235G>C (p.Gly412Ala)
n.1619G>C
 dbSNP ExAC gnomAD v3 gnomAD v4

Number of alleles fetched