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.18604268G>ACA412360517CDKL5c.1344G>A (p.Met448Ile)
c.1293G>A (p.Met431Ile)
c.1212G>A (p.Met404Ile)
n.1596G>A
 ClinVar dbSNP
Xg.18604268G>CCA412360518CDKL5c.1344G>C (p.Met448Ile)
c.1293G>C (p.Met431Ile)
c.1212G>C (p.Met404Ile)
n.1596G>C
Xg.18604268G=CA2417974065CDKL5c.1344G= (p.Met448=)
c.1293G= (p.Met431=)
c.1212G= (p.Met404=)
n.1596G=
Xg.18604268G>TCA412360520CDKL5c.1344G>T (p.Met448Ile)
c.1293G>T (p.Met431Ile)
c.1212G>T (p.Met404Ile)
n.1596G>T
Xg.18604268_18604270delinsGGACA2417974063CDKL5c.1344_1346delinsGGA (p.Met448=)
c.1293_1295delinsGGA (p.Met431=)
c.1212_1214delinsGGA (p.Met404=)
n.1596_1598delinsGGA
Xg.18604269_18604287delCA294680CDKL5c.1345_1363del (p.Glu449LeufsTer?)
c.1294_1312del (p.Glu432LeufsTer?)
c.1213_1231del (p.Glu405LeufsTer?)
n.1597_1615del
 ClinVar dbSNP
Xg.18604269G>ACA412360529CDKL5c.1345G>A (p.Glu449Lys)
c.1294G>A (p.Glu432Lys)
c.1213G>A (p.Glu405Lys)
n.1597G>A
Xg.18604269G>CCA412360525CDKL5c.1345G>C (p.Glu449Gln)
c.1294G>C (p.Glu432Gln)
c.1213G>C (p.Glu405Gln)
n.1597G>C
Xg.18604269G=CA2417974074CDKL5c.1345G= (p.Glu449=)
c.1294G= (p.Glu432=)
c.1213G= (p.Glu405=)
n.1597G=
Xg.18604269G>TCA412360527CDKL5c.1345G>T (p.Glu449Ter)
c.1294G>T (p.Glu432Ter)
c.1213G>T (p.Glu405Ter)
n.1597G>T
 ClinVar dbSNP
Xg.18604269_18604270delCA171610CDKL5c.1345_1346del (p.Glu449LysfsTer13)
c.1294_1295del (p.Glu432LysfsTer13)
c.1213_1214del (p.Glu405LysfsTer13)
n.1597_1598del
 ClinVar dbSNP
Xg.18604270A>CCA412360531CDKL5c.1346A>C (p.Glu449Ala)
c.1295A>C (p.Glu432Ala)
c.1214A>C (p.Glu405Ala)
n.1598A>C
Xg.18604270A>GCA412360532CDKL5c.1346A>G (p.Glu449Gly)
c.1295A>G (p.Glu432Gly)
c.1214A>G (p.Glu405Gly)
n.1598A>G
Xg.18604270A>TCA412360535CDKL5c.1346A>T (p.Glu449Val)
c.1295A>T (p.Glu432Val)
c.1214A>T (p.Glu405Val)
n.1598A>T
Xg.18604271A=CA2417974077CDKL5c.1347A= (p.Glu449=)
c.1296A= (p.Glu432=)
c.1215A= (p.Glu405=)
n.1599A=
Xg.18604271A>CCA412360537CDKL5c.1347A>C (p.Glu449Asp)
c.1296A>C (p.Glu432Asp)
c.1215A>C (p.Glu405Asp)
n.1599A>C
Xg.18604271A>GCA326987778CDKL5c.1347A>G (p.Glu449=)
c.1296A>G (p.Glu432=)
c.1215A>G (p.Glu405=)
n.1599A>G
 dbSNP
Xg.18604271A>TCA412360539CDKL5c.1347A>T (p.Glu449Asp)
c.1296A>T (p.Glu432Asp)
c.1215A>T (p.Glu405Asp)
n.1599A>T
Xg.18604272A>CCA412360541CDKL5c.1348A>C (p.Ser450Arg)
c.1297A>C (p.Ser433Arg)
c.1216A>C (p.Ser406Arg)
n.1600A>C
Xg.18604272A>GCA412360543CDKL5c.1348A>G (p.Ser450Gly)
c.1297A>G (p.Ser433Gly)
c.1216A>G (p.Ser406Gly)
n.1600A>G
 gnomAD v4
Xg.18604272A>TCA412360545CDKL5c.1348A>T (p.Ser450Cys)
c.1297A>T (p.Ser433Cys)
c.1216A>T (p.Ser406Cys)
n.1600A>T
Xg.18604273G>ACA412360552CDKL5c.1349G>A (p.Ser450Asn)
c.1298G>A (p.Ser433Asn)
c.1217G>A (p.Ser406Asn)
n.1601G>A
 dbSNP
Xg.18604273G>CCA412360550CDKL5c.1349G>C (p.Ser450Thr)
c.1298G>C (p.Ser433Thr)
c.1217G>C (p.Ser406Thr)
n.1601G>C
Xg.18604273G=CA2417974082CDKL5c.1349G= (p.Ser450=)
c.1298G= (p.Ser433=)
c.1217G= (p.Ser406=)
n.1601G=
Xg.18604273G>TCA412360548CDKL5c.1349G>T (p.Ser450Ile)
c.1298G>T (p.Ser433Ile)
c.1217G>T (p.Ser406Ile)
n.1601G>T
 gnomAD v4
Xg.18604274C>ACA412360553CDKL5c.1350C>A (p.Ser450Arg)
c.1299C>A (p.Ser433Arg)
c.1218C>A (p.Ser406Arg)
n.1602C>A
Xg.18604274C>GCA412360554CDKL5c.1350C>G (p.Ser450Arg)
c.1299C>G (p.Ser433Arg)
c.1218C>G (p.Ser406Arg)
n.1602C>G
Xg.18604274C>TCA515627711CDKL5c.1350C>T (p.Ser450=)
c.1299C>T (p.Ser433=)
c.1218C>T (p.Ser406=)
n.1602C>T
Xg.18604275T>ACA412360555CDKL5c.1351T>A (p.Ser451Thr)
c.1300T>A (p.Ser434Thr)
c.1219T>A (p.Ser407Thr)
n.1603T>A
Xg.18604275T>CCA412360556CDKL5c.1351T>C (p.Ser451Pro)
c.1300T>C (p.Ser434Pro)
c.1219T>C (p.Ser407Pro)
n.1603T>C
 gnomAD v4
Xg.18604275T>GCA412360557CDKL5c.1351T>G (p.Ser451Ala)
c.1300T>G (p.Ser434Ala)
c.1219T>G (p.Ser407Ala)
n.1603T>G
Xg.18604276C>ACA412360558CDKL5c.1352C>A (p.Ser451Tyr)
c.1301C>A (p.Ser434Tyr)
c.1220C>A (p.Ser407Tyr)
n.1604C>A
Xg.18604276C>GCA412360559CDKL5c.1352C>G (p.Ser451Cys)
c.1301C>G (p.Ser434Cys)
c.1220C>G (p.Ser407Cys)
n.1604C>G
Xg.18604276C>TCA412360561CDKL5c.1352C>T (p.Ser451Phe)
c.1301C>T (p.Ser434Phe)
c.1220C>T (p.Ser407Phe)
n.1604C>T
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.18604286_18604287insCACACCCAACACACA2819902123CDKL5c.1362_1363insCACACCCAACACA (p.Ala455HisfsTer12)
c.1311_1312insCACACCCAACACA (p.Ala438HisfsTer12)
c.1230_1231insCACACCCAACACA (p.Ala411HisfsTer12)
n.1614_1615insCACACCCAACACA
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
Xg.18604291G=CA2417974097CDKL5c.1367G= (p.Gly456=)
c.1316G= (p.Gly439=)
c.1235G= (p.Gly412=)
n.1619G=
Xg.18604291G>TCA412360617CDKL5c.1367G>T (p.Gly456Val)
c.1316G>T (p.Gly439Val)
c.1235G>T (p.Gly412Val)
n.1619G>T
Xg.18604292G>ACA515627766CDKL5c.1368G>A (p.Gly456=)
c.1317G>A (p.Gly439=)
c.1236G>A (p.Gly412=)
n.1620G>A
Xg.18604292G>CCA515627767CDKL5c.1368G>C (p.Gly456=)
c.1317G>C (p.Gly439=)
c.1236G>C (p.Gly412=)
n.1620G>C
Xg.18604292G>TCA515627768CDKL5c.1368G>T (p.Gly456=)
c.1317G>T (p.Gly439=)
c.1236G>T (p.Gly412=)
n.1620G>T
Xg.18604293A>CCA412360618CDKL5c.1369A>C (p.Thr457Pro)
c.1318A>C (p.Thr440Pro)
c.1237A>C (p.Thr413Pro)
n.1621A>C
Xg.18604293A>GCA412360619CDKL5c.1369A>G (p.Thr457Ala)
c.1318A>G (p.Thr440Ala)
c.1237A>G (p.Thr413Ala)
n.1621A>G
Xg.18604293A>TCA412360620CDKL5c.1369A>T (p.Thr457Ser)
c.1318A>T (p.Thr440Ser)
c.1237A>T (p.Thr413Ser)
n.1621A>T
Xg.18604294C>ACA412360621CDKL5c.1370C>A (p.Thr457Lys)
c.1319C>A (p.Thr440Lys)
c.1238C>A (p.Thr413Lys)
n.1622C>A
Xg.18604294C>GCA412360624CDKL5c.1370C>G (p.Thr457Arg)
c.1319C>G (p.Thr440Arg)
c.1238C>G (p.Thr413Arg)
n.1622C>G
Xg.18604294C>TCA412360622CDKL5c.1370C>T (p.Thr457Ile)
c.1319C>T (p.Thr440Ile)
c.1238C>T (p.Thr413Ile)
n.1622C>T
Xg.18604295A>CCA515627775CDKL5c.1371A>C (p.Thr457=)
c.1320A>C (p.Thr440=)
c.1239A>C (p.Thr413=)
n.1623A>C
Xg.18604295A>GCA515627777CDKL5c.1371A>G (p.Thr457=)
c.1320A>G (p.Thr440=)
c.1239A>G (p.Thr413=)
n.1623A>G
 gnomAD v4
Xg.18604295A>TCA515627779CDKL5c.1371A>T (p.Thr457=)
c.1320A>T (p.Thr440=)
c.1239A>T (p.Thr413=)
n.1623A>T
Xg.18604295dupCA2695231319CDKL5c.1371dup (p.Leu458ThrfsTer5)
c.1320dup (p.Leu441ThrfsTer5)
c.1239dup (p.Leu414ThrfsTer5)
n.1623dup
Xg.18604296C>ACA412360626CDKL5c.1372C>A (p.Leu458Met)
c.1321C>A (p.Leu441Met)
c.1240C>A (p.Leu414Met)
n.1624C>A
Xg.18604296C>GCA412360628CDKL5c.1372C>G (p.Leu458Val)
c.1321C>G (p.Leu441Val)
c.1240C>G (p.Leu414Val)
n.1624C>G
Xg.18604296C>TCA515627782CDKL5c.1372C>T (p.Leu458=)
c.1321C>T (p.Leu441=)
c.1240C>T (p.Leu414=)
n.1624C>T
Xg.18604297T>ACA412360630CDKL5c.1373T>A (p.Leu458Gln)
c.1322T>A (p.Leu441Gln)
c.1241T>A (p.Leu414Gln)
n.1625T>A
Xg.18604297T>CCA412360632CDKL5c.1373T>C (p.Leu458Pro)
c.1322T>C (p.Leu441Pro)
c.1241T>C (p.Leu414Pro)
n.1625T>C
Xg.18604297T>GCA412360639CDKL5c.1373T>G (p.Leu458Arg)
c.1322T>G (p.Leu441Arg)
c.1241T>G (p.Leu414Arg)
n.1625T>G
Xg.18604298G>ACA515627786CDKL5c.1374G>A (p.Leu458=)
c.1323G>A (p.Leu441=)
c.1242G>A (p.Leu414=)
n.1626G>A
Xg.18604298G>CCA515627787CDKL5c.1374G>C (p.Leu458=)
c.1323G>C (p.Leu441=)
c.1242G>C (p.Leu414=)
n.1626G>C
Xg.18604298G>TCA515627788CDKL5c.1374G>T (p.Leu458=)
c.1323G>T (p.Leu441=)
c.1242G>T (p.Leu414=)
n.1626G>T
Xg.18604299C>ACA412360641CDKL5c.1375C>A (p.Gln459Lys)
c.1324C>A (p.Gln442Lys)
c.1243C>A (p.Gln415Lys)
n.1627C>A
Xg.18604299C=CA2417974101CDKL5c.1375C= (p.Gln459=)
c.1324C= (p.Gln442=)
c.1243C= (p.Gln415=)
n.1627C=
Xg.18604299C>GCA412360643CDKL5c.1375C>G (p.Gln459Glu)
c.1324C>G (p.Gln442Glu)
c.1243C>G (p.Gln415Glu)
n.1627C>G
Xg.18604299C>TCA199377CDKL5c.1375C>T (p.Gln459Ter)
c.1324C>T (p.Gln442Ter)
c.1243C>T (p.Gln415Ter)
n.1627C>T
 ClinVar dbSNP
Xg.18604300A>CCA412360646CDKL5c.1376A>C (p.Gln459Pro)
c.1325A>C (p.Gln442Pro)
c.1244A>C (p.Gln415Pro)
n.1628A>C
Xg.18604300A>GCA412360648CDKL5c.1376A>G (p.Gln459Arg)
c.1325A>G (p.Gln442Arg)
c.1244A>G (p.Gln415Arg)
n.1628A>G
Xg.18604300A>TCA412360649CDKL5c.1376A>T (p.Gln459Leu)
c.1325A>T (p.Gln442Leu)
c.1244A>T (p.Gln415Leu)
n.1628A>T
Xg.18604301G>ACA515627793CDKL5c.1377G>A (p.Gln459=)
c.1326G>A (p.Gln442=)
c.1245G>A (p.Gln415=)
n.1629G>A
 ClinVar dbSNP gnomAD v4
Xg.18604301G>CCA412360651CDKL5c.1377G>C (p.Gln459His)
c.1326G>C (p.Gln442His)
c.1245G>C (p.Gln415His)
n.1629G>C
Xg.18604301G>TCA412360650CDKL5c.1377G>T (p.Gln459His)
c.1326G>T (p.Gln442His)
c.1245G>T (p.Gln415His)
n.1629G>T
Xg.18604302C>ACA412360652CDKL5c.1378C>A (p.Pro460Thr)
c.1327C>A (p.Pro443Thr)
c.1246C>A (p.Pro416Thr)
n.1630C>A
Xg.18604302C=CA2417974104CDKL5c.1378C= (p.Pro460=)
c.1327C= (p.Pro443=)
c.1246C= (p.Pro416=)
n.1630C=
Xg.18604302C>GCA412360653CDKL5c.1378C>G (p.Pro460Ala)
c.1327C>G (p.Pro443Ala)
c.1246C>G (p.Pro416Ala)
n.1630C>G
Xg.18604302C>TCA326987784CDKL5c.1378C>T (p.Pro460Ser)
c.1327C>T (p.Pro443Ser)
c.1246C>T (p.Pro416Ser)
n.1630C>T
 dbSNP
Xg.18604303C>ACA412360655CDKL5c.1379C>A (p.Pro460His)
c.1328C>A (p.Pro443His)
c.1247C>A (p.Pro416His)
n.1631C>A
 gnomAD v4
Xg.18604303C>GCA412360656CDKL5c.1379C>G (p.Pro460Arg)
c.1328C>G (p.Pro443Arg)
c.1247C>G (p.Pro416Arg)
n.1631C>G
Xg.18604303C>TCA412360657CDKL5c.1379C>T (p.Pro460Leu)
c.1328C>T (p.Pro443Leu)
c.1247C>T (p.Pro416Leu)
n.1631C>T
Xg.18604304C>ACA515627805CDKL5c.1380C>A (p.Pro460=)
c.1329C>A (p.Pro443=)
c.1248C>A (p.Pro416=)
n.1632C>A
Xg.18604304C>GCA515627806CDKL5c.1380C>G (p.Pro460=)
c.1329C>G (p.Pro443=)
c.1248C>G (p.Pro416=)
n.1632C>G
Xg.18604304C>TCA515627804CDKL5c.1380C>T (p.Pro460=)
c.1329C>T (p.Pro443=)
c.1248C>T (p.Pro416=)
n.1632C>T
Xg.18604305A=CA2417974107CDKL5c.1381A= (p.Asn461=)
c.1330A= (p.Asn444=)
c.1249A= (p.Asn417=)
n.1633A=
Xg.18604305A>CCA412360659CDKL5c.1381A>C (p.Asn461His)
c.1330A>C (p.Asn444His)
c.1249A>C (p.Asn417His)
n.1633A>C
Xg.18604305A>GCA10360378CDKL5c.1381A>G (p.Asn461Asp)
c.1330A>G (p.Asn444Asp)
c.1249A>G (p.Asn417Asp)
n.1633A>G
 dbSNP ExAC gnomAD v2
Xg.18604305A>TCA412360658CDKL5c.1381A>T (p.Asn461Tyr)
c.1330A>T (p.Asn444Tyr)
c.1249A>T (p.Asn417Tyr)
n.1633A>T
Xg.18604306A=CA2417974115CDKL5c.1382A= (p.Asn461=)
c.1331A= (p.Asn444=)
c.1250A= (p.Asn417=)
n.1634A=
Xg.18604306A>CCA412360661CDKL5c.1382A>C (p.Asn461Thr)
c.1331A>C (p.Asn444Thr)
c.1250A>C (p.Asn417Thr)
n.1634A>C
 gnomAD v4
Xg.18604306A>GCA170445CDKL5c.1382A>G (p.Asn461Ser)
c.1331A>G (p.Asn444Ser)
c.1250A>G (p.Asn417Ser)
n.1634A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604306A>TCA10360379CDKL5c.1382A>T (p.Asn461Ile)
c.1331A>T (p.Asn444Ile)
c.1250A>T (p.Asn417Ile)
n.1634A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604307T>ACA412360664CDKL5c.1383T>A (p.Asn461Lys)
c.1332T>A (p.Asn444Lys)
c.1251T>A (p.Asn417Lys)
n.1635T>A
Xg.18604307T>CCA515627812CDKL5c.1383T>C (p.Asn461=)
c.1332T>C (p.Asn444=)
c.1251T>C (p.Asn417=)
n.1635T>C
 dbSNP gnomAD v3 gnomAD v4
Xg.18604307T>GCA412360665CDKL5c.1383T>G (p.Asn461Lys)
c.1332T>G (p.Asn444Lys)
c.1251T>G (p.Asn417Lys)
n.1635T>G
Xg.18604307T=CA2417974125CDKL5c.1383T= (p.Asn461=)
c.1332T= (p.Asn444=)
c.1251T= (p.Asn417=)
n.1635T=
Xg.18604308G>ACA412360667CDKL5c.1384G>A (p.Glu462Lys)
c.1333G>A (p.Glu445Lys)
c.1252G>A (p.Glu418Lys)
n.1636G>A
Xg.18604308G>CCA412360670CDKL5c.1384G>C (p.Glu462Gln)
c.1333G>C (p.Glu445Gln)
c.1252G>C (p.Glu418Gln)
n.1636G>C
Xg.18604308G>TCA412360669CDKL5c.1384G>T (p.Glu462Ter)
c.1333G>T (p.Glu445Ter)
c.1252G>T (p.Glu418Ter)
n.1636G>T
 dbSNP
Xg.18604309A>CCA412360678CDKL5c.1385A>C (p.Glu462Ala)
c.1334A>C (p.Glu445Ala)
c.1253A>C (p.Glu418Ala)
n.1637A>C
Xg.18604309A>GCA412360681CDKL5c.1385A>G (p.Glu462Gly)
c.1334A>G (p.Glu445Gly)
c.1253A>G (p.Glu418Gly)
n.1637A>G
 gnomAD v4
Xg.18604309A>TCA412360682CDKL5c.1385A>T (p.Glu462Val)
c.1334A>T (p.Glu445Val)
c.1253A>T (p.Glu418Val)
n.1637A>T
Xg.18604310A=CA2417974130CDKL5c.1386A= (p.Glu462=)
c.1335A= (p.Glu445=)
c.1254A= (p.Glu418=)
n.1638A=
Xg.18604310A>CCA10360380CDKL5c.1386A>C (p.Glu462Asp)
c.1335A>C (p.Glu445Asp)
c.1254A>C (p.Glu418Asp)
n.1638A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604310A>GCA515627816CDKL5c.1386A>G (p.Glu462=)
c.1335A>G (p.Glu445=)
c.1254A>G (p.Glu418=)
n.1638A>G
Xg.18604310A>TCA412360683CDKL5c.1386A>T (p.Glu462Asp)
c.1335A>T (p.Glu445Asp)
c.1254A>T (p.Glu418Asp)
n.1638A>T
Xg.18604311A=CA2417974137CDKL5c.1387A= (p.Lys463=)
c.1336A= (p.Lys446=)
c.1255A= (p.Lys419=)
n.1639A=
Xg.18604311A>CCA412360684CDKL5c.1387A>C (p.Lys463Gln)
c.1336A>C (p.Lys446Gln)
c.1255A>C (p.Lys419Gln)
n.1639A>C
Xg.18604311A>GCA10360381CDKL5c.1387A>G (p.Lys463Glu)
c.1336A>G (p.Lys446Glu)
c.1255A>G (p.Lys419Glu)
n.1639A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604311A>TCA412360685CDKL5c.1387A>T (p.Lys463Ter)
c.1336A>T (p.Lys446Ter)
c.1255A>T (p.Lys419Ter)
n.1639A>T
Xg.18604312A>CCA412360686CDKL5c.1388A>C (p.Lys463Thr)
c.1337A>C (p.Lys446Thr)
c.1256A>C (p.Lys419Thr)
n.1640A>C
Xg.18604312A>GCA412360687CDKL5c.1388A>G (p.Lys463Arg)
c.1337A>G (p.Lys446Arg)
c.1256A>G (p.Lys419Arg)
n.1640A>G
Xg.18604312A>TCA412360689CDKL5c.1388A>T (p.Lys463Met)
c.1337A>T (p.Lys446Met)
c.1256A>T (p.Lys419Met)
n.1640A>T
Xg.18604313G>ACA10360382CDKL5c.1389G>A (p.Lys463=)
c.1338G>A (p.Lys446=)
c.1257G>A (p.Lys419=)
n.1641G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18604313G>CCA412360692CDKL5c.1389G>C (p.Lys463Asn)
c.1338G>C (p.Lys446Asn)
c.1257G>C (p.Lys419Asn)
n.1641G>C
Xg.18604313G=CA2417974144CDKL5c.1389G= (p.Lys463=)
c.1338G= (p.Lys446=)
c.1257G= (p.Lys419=)
n.1641G=
Xg.18604313G>TCA412360691CDKL5c.1389G>T (p.Lys463Asn)
c.1338G>T (p.Lys446Asn)
c.1257G>T (p.Lys419Asn)
n.1641G>T
Xg.18604314C>ACA412360695CDKL5c.1390C>A (p.Gln464Lys)
c.1339C>A (p.Gln447Lys)
c.1258C>A (p.Gln420Lys)
n.1642C>A
Xg.18604314C>GCA412360697CDKL5c.1390C>G (p.Gln464Glu)
c.1339C>G (p.Gln447Glu)
c.1258C>G (p.Gln420Glu)
n.1642C>G
Xg.18604314C>TCA412360696CDKL5c.1390C>T (p.Gln464Ter)
c.1339C>T (p.Gln447Ter)
c.1258C>T (p.Gln420Ter)
n.1642C>T
Xg.18604315A>CCA412360699CDKL5c.1391A>C (p.Gln464Pro)
c.1340A>C (p.Gln447Pro)
c.1259A>C (p.Gln420Pro)
n.1643A>C
Xg.18604315A>GCA412360701CDKL5c.1391A>G (p.Gln464Arg)
c.1340A>G (p.Gln447Arg)
c.1259A>G (p.Gln420Arg)
n.1643A>G
Xg.18604315A>TCA412360703CDKL5c.1391A>T (p.Gln464Leu)
c.1340A>T (p.Gln447Leu)
c.1259A>T (p.Gln420Leu)
n.1643A>T
Xg.18604316G>ACA515627821CDKL5c.1392G>A (p.Gln464=)
c.1341G>A (p.Gln447=)
c.1260G>A (p.Gln420=)
n.1644G>A
Xg.18604316G>CCA412360706CDKL5c.1392G>C (p.Gln464His)
c.1341G>C (p.Gln447His)
c.1260G>C (p.Gln420His)
n.1644G>C
Xg.18604316G>TCA412360708CDKL5c.1392G>T (p.Gln464His)
c.1341G>T (p.Gln447His)
c.1260G>T (p.Gln420His)
n.1644G>T
Xg.18604317A=CA2417974147CDKL5c.1393A= (p.Ser465=)
c.1342A= (p.Ser448=)
c.1261A= (p.Ser421=)
n.1645A=
Xg.18604317A>CCA412360711CDKL5c.1393A>C (p.Ser465Arg)
c.1342A>C (p.Ser448Arg)
c.1261A>C (p.Ser421Arg)
n.1645A>C
Xg.18604317A>GCA412360712CDKL5c.1393A>G (p.Ser465Gly)
c.1342A>G (p.Ser448Gly)
c.1261A>G (p.Ser421Gly)
n.1645A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.18604317A>TCA412360715CDKL5c.1393A>T (p.Ser465Cys)
c.1342A>T (p.Ser448Cys)
c.1261A>T (p.Ser421Cys)
n.1645A>T
Xg.18604318G>ACA412360717CDKL5c.1394G>A (p.Ser465Asn)
c.1343G>A (p.Ser448Asn)
c.1262G>A (p.Ser421Asn)
n.1646G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.18604318G>CCA412360719CDKL5c.1394G>C (p.Ser465Thr)
c.1343G>C (p.Ser448Thr)
c.1262G>C (p.Ser421Thr)
n.1646G>C
Xg.18604318G=CA2417974150CDKL5c.1394G= (p.Ser465=)
c.1343G= (p.Ser448=)
c.1262G= (p.Ser421=)
n.1646G=
Xg.18604318G>TCA412360721CDKL5c.1394G>T (p.Ser465Ile)
c.1343G>T (p.Ser448Ile)
c.1262G>T (p.Ser421Ile)
n.1646G>T
Xg.18604319T>ACA412360723CDKL5c.1395T>A (p.Ser465Arg)
c.1344T>A (p.Ser448Arg)
c.1263T>A (p.Ser421Arg)
n.1647T>A
Xg.18604319T>CCA515627823CDKL5c.1395T>C (p.Ser465=)
c.1344T>C (p.Ser448=)
c.1263T>C (p.Ser421=)
n.1647T>C
Xg.18604319T>GCA412360724CDKL5c.1395T>G (p.Ser465Arg)
c.1344T>G (p.Ser448Arg)
c.1263T>G (p.Ser421Arg)
n.1647T>G
Xg.18604320C>ACA515627825CDKL5c.1396C>A (p.Arg466=)
c.1345C>A (p.Arg449=)
c.1264C>A (p.Arg422=)
n.1648C>A
Xg.18604320C=CA2417974153CDKL5c.1396C= (p.Arg466=)
c.1345C= (p.Arg449=)
c.1264C= (p.Arg422=)
n.1648C=
Xg.18604320C>GCA412360725CDKL5c.1396C>G (p.Arg466Gly)
c.1345C>G (p.Arg449Gly)
c.1264C>G (p.Arg422Gly)
n.1648C>G
Xg.18604320C>TCA412360726CDKL5c.1396C>T (p.Arg466Trp)
c.1345C>T (p.Arg449Trp)
c.1264C>T (p.Arg422Trp)
n.1648C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.18604321G>ACA10360383CDKL5c.1397G>A (p.Arg466Gln)
c.1346G>A (p.Arg449Gln)
c.1265G>A (p.Arg422Gln)
n.1649G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604321G>CCA412360729CDKL5c.1397G>C (p.Arg466Pro)
c.1346G>C (p.Arg449Pro)
c.1265G>C (p.Arg422Pro)
n.1649G>C
Xg.18604321G=CA2417974157CDKL5c.1397G= (p.Arg466=)
c.1346G= (p.Arg449=)
c.1265G= (p.Arg422=)
n.1649G=
Xg.18604321G>TCA412360730CDKL5c.1397G>T (p.Arg466Leu)
c.1346G>T (p.Arg449Leu)
c.1265G>T (p.Arg422Leu)
n.1649G>T
Xg.18604322G>ACA515627829CDKL5c.1398G>A (p.Arg466=)
c.1347G>A (p.Arg449=)
c.1266G>A (p.Arg422=)
n.1650G>A
Xg.18604322G>CCA515627830CDKL5c.1398G>C (p.Arg466=)
c.1347G>C (p.Arg449=)
c.1266G>C (p.Arg422=)
n.1650G>C
Xg.18604322G>TCA515627831CDKL5c.1398G>T (p.Arg466=)
c.1347G>T (p.Arg449=)
c.1266G>T (p.Arg422=)
n.1650G>T
 COSMIC
Xg.18604323C>ACA412360731CDKL5c.1399C>A (p.His467Asn)
c.1348C>A (p.His450Asn)
c.1267C>A (p.His423Asn)
n.1651C>A
Xg.18604323C>GCA412360736CDKL5c.1399C>G (p.His467Asp)
c.1348C>G (p.His450Asp)
c.1267C>G (p.His423Asp)
n.1651C>G
Xg.18604323C>TCA412360738CDKL5c.1399C>T (p.His467Tyr)
c.1348C>T (p.His450Tyr)
c.1267C>T (p.His423Tyr)
n.1651C>T
Xg.18604324A=CA2417974162CDKL5c.1400A= (p.His467=)
c.1349A= (p.His450=)
c.1268A= (p.His423=)
n.1652A=
Xg.18604324A>CCA170447CDKL5c.1400A>C (p.His467Pro)
c.1349A>C (p.His450Pro)
c.1268A>C (p.His423Pro)
n.1652A>C
 ClinVar dbSNP
Xg.18604324A>GCA171611CDKL5c.1400A>G (p.His467Arg)
c.1349A>G (p.His450Arg)
c.1268A>G (p.His423Arg)
n.1652A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18604324A>TCA412360740CDKL5c.1400A>T (p.His467Leu)
c.1349A>T (p.His450Leu)
c.1268A>T (p.His423Leu)
n.1652A>T
Xg.18604325T>ACA412360743CDKL5c.1401T>A (p.His467Gln)
c.1350T>A (p.His450Gln)
c.1269T>A (p.His423Gln)
n.1653T>A
Xg.18604325T>CCA515627833CDKL5c.1401T>C (p.His467=)
c.1350T>C (p.His450=)
c.1269T>C (p.His423=)
n.1653T>C
Xg.18604325T>GCA412360745CDKL5c.1401T>G (p.His467Gln)
c.1350T>G (p.His450Gln)
c.1269T>G (p.His423Gln)
n.1653T>G
Xg.18604326A>CCA412360750CDKL5c.1402A>C (p.Ser468Arg)
c.1351A>C (p.Ser451Arg)
c.1270A>C (p.Ser424Arg)
n.1654A>C
Xg.18604326A>GCA412360748CDKL5c.1402A>G (p.Ser468Gly)
c.1351A>G (p.Ser451Gly)
c.1270A>G (p.Ser424Gly)
n.1654A>G
Xg.18604326A>TCA412360746CDKL5c.1402A>T (p.Ser468Cys)
c.1351A>T (p.Ser451Cys)
c.1270A>T (p.Ser424Cys)
n.1654A>T
Xg.18604327G>ACA412360752CDKL5c.1403G>A (p.Ser468Asn)
c.1352G>A (p.Ser451Asn)
c.1271G>A (p.Ser424Asn)
n.1655G>A
Xg.18604327G>CCA412360755CDKL5c.1403G>C (p.Ser468Thr)
c.1352G>C (p.Ser451Thr)
c.1271G>C (p.Ser424Thr)
n.1655G>C
 gnomAD v4
Xg.18604327G>TCA412360757CDKL5c.1403G>T (p.Ser468Ile)
c.1352G>T (p.Ser451Ile)
c.1271G>T (p.Ser424Ile)
n.1655G>T
Xg.18604328C>ACA412360759CDKL5c.1404C>A (p.Ser468Arg)
c.1353C>A (p.Ser451Arg)
c.1272C>A (p.Ser424Arg)
n.1656C>A
Xg.18604328C=CA2417974168CDKL5c.1404C= (p.Ser468=)
c.1353C= (p.Ser451=)
c.1272C= (p.Ser424=)
n.1656C=
Xg.18604328C>GCA412360760CDKL5c.1404C>G (p.Ser468Arg)
c.1353C>G (p.Ser451Arg)
c.1272C>G (p.Ser424Arg)
n.1656C>G
 ClinVar dbSNP
Xg.18604328C>TCA515627835CDKL5c.1404C>T (p.Ser468=)
c.1353C>T (p.Ser451=)
c.1272C>T (p.Ser424=)
n.1656C>T
Xg.18604329T>ACA412360763CDKL5c.1405T>A (p.Tyr469Asn)
c.1354T>A (p.Tyr452Asn)
c.1273T>A (p.Tyr425Asn)
n.1657T>A
Xg.18604329T>CCA412360765CDKL5c.1405T>C (p.Tyr469His)
c.1354T>C (p.Tyr452His)
c.1273T>C (p.Tyr425His)
n.1657T>C
Xg.18604329T>GCA412360767CDKL5c.1405T>G (p.Tyr469Asp)
c.1354T>G (p.Tyr452Asp)
c.1273T>G (p.Tyr425Asp)
n.1657T>G
Xg.18604330A=CA2417974171CDKL5c.1406A= (p.Tyr469=)
c.1355A= (p.Tyr452=)
c.1274A= (p.Tyr425=)
n.1658A=
Xg.18604330A>CCA412360769CDKL5c.1406A>C (p.Tyr469Ser)
c.1355A>C (p.Tyr452Ser)
c.1274A>C (p.Tyr425Ser)
n.1658A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.18604330A>GCA412360771CDKL5c.1406A>G (p.Tyr469Cys)
c.1355A>G (p.Tyr452Cys)
c.1274A>G (p.Tyr425Cys)
n.1658A>G
 dbSNP gnomAD v3 gnomAD v4 COSMIC
Xg.18604330A>TCA412360773CDKL5c.1406A>T (p.Tyr469Phe)
c.1355A>T (p.Tyr452Phe)
c.1274A>T (p.Tyr425Phe)
n.1658A>T
Xg.18604331T>ACA412360775CDKL5c.1407T>A (p.Tyr469Ter)
c.1356T>A (p.Tyr452Ter)
c.1275T>A (p.Tyr425Ter)
n.1659T>A
Xg.18604331T>CCA515627838CDKL5c.1407T>C (p.Tyr469=)
c.1356T>C (p.Tyr452=)
c.1275T>C (p.Tyr425=)
n.1659T>C
Xg.18604331T>GCA412360777CDKL5c.1407T>G (p.Tyr469Ter)
c.1356T>G (p.Tyr452Ter)
c.1275T>G (p.Tyr425Ter)
n.1659T>G
Xg.18604332A>CCA412360783CDKL5c.1408A>C (p.Ile470Leu)
c.1357A>C (p.Ile453Leu)
c.1276A>C (p.Ile426Leu)
n.1660A>C
Xg.18604332A>GCA412360779CDKL5c.1408A>G (p.Ile470Val)
c.1357A>G (p.Ile453Val)
c.1276A>G (p.Ile426Val)
n.1660A>G
 gnomAD v4
Xg.18604332A>TCA412360781CDKL5c.1408A>T (p.Ile470Phe)
c.1357A>T (p.Ile453Phe)
c.1276A>T (p.Ile426Phe)
n.1660A>T
Xg.18604333T>ACA412360785CDKL5c.1409T>A (p.Ile470Asn)
c.1358T>A (p.Ile453Asn)
c.1277T>A (p.Ile426Asn)
n.1661T>A
Xg.18604333T>CCA412360787CDKL5c.1409T>C (p.Ile470Thr)
c.1358T>C (p.Ile453Thr)
c.1277T>C (p.Ile426Thr)
n.1661T>C
Xg.18604333T>GCA412360789CDKL5c.1409T>G (p.Ile470Ser)
c.1358T>G (p.Ile453Ser)
c.1277T>G (p.Ile426Ser)
n.1661T>G
Xg.18604334T>ACA515627841CDKL5c.1410T>A (p.Ile470=)
c.1359T>A (p.Ile453=)
c.1278T>A (p.Ile426=)
n.1662T>A
Xg.18604334T>CCA515627840CDKL5c.1410T>C (p.Ile470=)
c.1359T>C (p.Ile453=)
c.1278T>C (p.Ile426=)
n.1662T>C
Xg.18604334T>GCA412360790CDKL5c.1410T>G (p.Ile470Met)
c.1359T>G (p.Ile453Met)
c.1278T>G (p.Ile426Met)
n.1662T>G
Xg.18604335G>ACA412360793CDKL5c.1411G>A (p.Asp471Asn)
c.1360G>A (p.Asp454Asn)
c.1279G>A (p.Asp427Asn)
n.1663G>A
Xg.18604335G>CCA412360794CDKL5c.1411G>C (p.Asp471His)
c.1360G>C (p.Asp454His)
c.1279G>C (p.Asp427His)
n.1663G>C
Xg.18604335G>TCA412360796CDKL5c.1411G>T (p.Asp471Tyr)
c.1360G>T (p.Asp454Tyr)
c.1279G>T (p.Asp427Tyr)
n.1663G>T
 gnomAD v4
Xg.18604336delCA2695231321CDKL5c.1412del (p.Asp471AlafsTer22)
c.1412del (p.Asp471=)
c.1361del (p.Asp454AlafsTer22)
c.1280del (p.Asp427AlafsTer22)
n.1664del
Xg.18604336A>CCA412360798CDKL5c.1412A>C (p.Asp471Ala)
c.1361A>C (p.Asp454Ala)
c.1280A>C (p.Asp427Ala)
n.1664A>C
 gnomAD v4
Xg.18604336A>GCA412360799CDKL5c.1412A>G (p.Asp471Gly)
c.1361A>G (p.Asp454Gly)
c.1280A>G (p.Asp427Gly)
n.1664A>G
Xg.18604336A>TCA412360801CDKL5c.1412A>T (p.Asp471Val)
c.1361A>T (p.Asp454Val)
c.1280A>T (p.Asp427Val)
n.1664A>T
Xg.18604337C>ACA412360803CDKL5c.1413C>A (p.Asp471Glu)
c.1362C>A (p.Asp454Glu)
c.1281C>A (p.Asp427Glu)
n.1665C>A
Xg.18604337C>GCA412360805CDKL5c.1413C>G (p.Asp471Glu)
c.1362C>G (p.Asp454Glu)
c.1281C>G (p.Asp427Glu)
n.1665C>G
Xg.18604337C>TCA515627844CDKL5c.1413C>T (p.Asp471=)
c.1362C>T (p.Asp454=)
c.1281C>T (p.Asp427=)
n.1665C>T
 ClinVar dbSNP
Xg.18604338A=CA2417974174CDKL5c.1414A= (p.Thr472=)
c.1363A= (p.Thr455=)
c.1282A= (p.Thr428=)
n.1666A=
Xg.18604338A>CCA412360809CDKL5c.1414A>C (p.Thr472Pro)
c.1363A>C (p.Thr455Pro)
c.1282A>C (p.Thr428Pro)
n.1666A>C
Xg.18604338A>GCA412360811CDKL5c.1414A>G (p.Thr472Ala)
c.1363A>G (p.Thr455Ala)
c.1282A>G (p.Thr428Ala)
n.1666A>G
 dbSNP gnomAD v4
Xg.18604338A>TCA412360808CDKL5c.1414A>T (p.Thr472Ser)
c.1363A>T (p.Thr455Ser)
c.1282A>T (p.Thr428Ser)
n.1666A>T
Xg.18604339C>ACA412360814CDKL5c.1415C>A (p.Thr472Lys)
c.1364C>A (p.Thr455Lys)
c.1283C>A (p.Thr428Lys)
n.1667C>A
Xg.18604339C=CA2417974179CDKL5c.1415C= (p.Thr472=)
c.1364C= (p.Thr455=)
c.1283C= (p.Thr428=)
n.1667C=
Xg.18604339C>GCA412360817CDKL5c.1415C>G (p.Thr472Arg)
c.1364C>G (p.Thr455Arg)
c.1283C>G (p.Thr428Arg)
n.1667C>G
Xg.18604339C>TCA412360815CDKL5c.1415C>T (p.Thr472Ile)
c.1364C>T (p.Thr455Ile)
c.1283C>T (p.Thr428Ile)
n.1667C>T
Xg.18604340A>CCA515627850CDKL5c.1416A>C (p.Thr472=)
c.1365A>C (p.Thr455=)
c.1284A>C (p.Thr428=)
n.1668A>C
Xg.18604340A>GCA515627848CDKL5c.1416A>G (p.Thr472=)
c.1365A>G (p.Thr455=)
c.1284A>G (p.Thr428=)
n.1668A>G
Xg.18604340A>TCA515627849CDKL5c.1416A>T (p.Thr472=)
c.1365A>T (p.Thr455=)
c.1284A>T (p.Thr428=)
n.1668A>T
Xg.18604341dupCA199379CDKL5c.1417dup (p.Ile473AsnfsTer6)
c.1366dup (p.Ile456AsnfsTer6)
c.1285dup (p.Ile429AsnfsTer6)
n.1669dup
 ClinVar dbSNP
Xg.18604341A>CCA412360819CDKL5c.1417A>C (p.Ile473Leu)
c.1366A>C (p.Ile456Leu)
c.1285A>C (p.Ile429Leu)
n.1669A>C
 gnomAD v4
Xg.18604341A>GCA412360823CDKL5c.1417A>G (p.Ile473Val)
c.1366A>G (p.Ile456Val)
c.1285A>G (p.Ile429Val)
n.1669A>G
Xg.18604341A>TCA412360821CDKL5c.1417A>T (p.Ile473Phe)
c.1366A>T (p.Ile456Phe)
c.1285A>T (p.Ile429Phe)
n.1669A>T
Xg.18604342T>ACA412360825CDKL5c.1418T>A (p.Ile473Asn)
c.1367T>A (p.Ile456Asn)
c.1286T>A (p.Ile429Asn)
n.1670T>A
Xg.18604342T>CCA412360827CDKL5c.1418T>C (p.Ile473Thr)
c.1367T>C (p.Ile456Thr)
c.1286T>C (p.Ile429Thr)
n.1670T>C
Xg.18604342T>GCA412360829CDKL5c.1418T>G (p.Ile473Ser)
c.1367T>G (p.Ile456Ser)
c.1286T>G (p.Ile429Ser)
n.1670T>G
Xg.18604343delCA2573055199CDKL5c.1419del (p.Gln475SerfsTer18)
c.1368del (p.Gln458SerfsTer18)
c.1287del (p.Gln431SerfsTer18)
n.1671del
 ClinVar dbSNP
Xg.18604343T>ACA515627855CDKL5c.1419T>A (p.Ile473=)
c.1368T>A (p.Ile456=)
c.1287T>A (p.Ile429=)
n.1671T>A
Xg.18604343T>CCA515627856CDKL5c.1419T>C (p.Ile473=)
c.1368T>C (p.Ile456=)
c.1287T>C (p.Ile429=)
n.1671T>C
Xg.18604343T>GCA412360831CDKL5c.1419T>G (p.Ile473Met)
c.1368T>G (p.Ile456Met)
c.1287T>G (p.Ile429Met)
n.1671T>G
Xg.18604343_18604344delinsTCCA2417974186CDKL5c.1419_1420delinsTC (p.Ile473=)
c.1368_1369delinsTC (p.Ile456=)
c.1287_1288delinsTC (p.Ile429=)
n.1671_1672delinsTC
Xg.18604344C>ACA412360833CDKL5c.1420C>A (p.Pro474Thr)
c.1369C>A (p.Pro457Thr)
c.1288C>A (p.Pro430Thr)
n.1672C>A
Xg.18604344C>GCA412360835CDKL5c.1420C>G (p.Pro474Ala)
c.1369C>G (p.Pro457Ala)
c.1288C>G (p.Pro430Ala)
n.1672C>G
Xg.18604344C>TCA412360837CDKL5c.1420C>T (p.Pro474Ser)
c.1369C>T (p.Pro457Ser)
c.1288C>T (p.Pro430Ser)
n.1672C>T
 COSMIC
Xg.18604347delCA10360384CDKL5c.1423del (p.Gln475SerfsTer18)
c.1372del (p.Gln458SerfsTer18)
c.1291del (p.Gln431SerfsTer18)
n.1675del
 dbSNP ExAC
Xg.18604345C>ACA412360840CDKL5c.1421C>A (p.Pro474His)
c.1370C>A (p.Pro457His)
c.1289C>A (p.Pro430His)
n.1673C>A
Xg.18604345C>GCA412360842CDKL5c.1421C>G (p.Pro474Arg)
c.1370C>G (p.Pro457Arg)
c.1289C>G (p.Pro430Arg)
n.1673C>G
Xg.18604345C>TCA412360844CDKL5c.1421C>T (p.Pro474Leu)
c.1370C>T (p.Pro457Leu)
c.1289C>T (p.Pro430Leu)
n.1673C>T
 COSMIC
Xg.18604346C>ACA515627857CDKL5c.1422C>A (p.Pro474=)
c.1371C>A (p.Pro457=)
c.1290C>A (p.Pro430=)
n.1674C>A
Xg.18604346C=CA2417974191CDKL5c.1422C= (p.Pro474=)
c.1371C= (p.Pro457=)
c.1290C= (p.Pro430=)
n.1674C=
Xg.18604346C>GCA515627858CDKL5c.1422C>G (p.Pro474=)
c.1371C>G (p.Pro457=)
c.1290C>G (p.Pro430=)
n.1674C>G
Xg.18604346C>TCA10360385CDKL5c.1422C>T (p.Pro474=)
c.1371C>T (p.Pro457=)
c.1290C>T (p.Pro430=)
n.1674C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604347C>ACA412360851CDKL5c.1423C>A (p.Gln475Lys)
c.1372C>A (p.Gln458Lys)
c.1291C>A (p.Gln431Lys)
n.1675C>A
Xg.18604347C>GCA412360848CDKL5c.1423C>G (p.Gln475Glu)
c.1372C>G (p.Gln458Glu)
c.1291C>G (p.Gln431Glu)
n.1675C>G
 gnomAD v4
Xg.18604347C>TCA412360850CDKL5c.1423C>T (p.Gln475Ter)
c.1372C>T (p.Gln458Ter)
c.1291C>T (p.Gln431Ter)
n.1675C>T
Xg.18604348A>CCA412360853CDKL5c.1424A>C (p.Gln475Pro)
c.1373A>C (p.Gln458Pro)
c.1292A>C (p.Gln431Pro)
n.1676A>C
Xg.18604348A>GCA412360855CDKL5c.1424A>G (p.Gln475Arg)
c.1373A>G (p.Gln458Arg)
c.1292A>G (p.Gln431Arg)
n.1676A>G
Xg.18604348A>TCA412360857CDKL5c.1424A>T (p.Gln475Leu)
c.1373A>T (p.Gln458Leu)
c.1292A>T (p.Gln431Leu)
n.1676A>T
Xg.18604349G>ACA515627860CDKL5c.1425G>A (p.Gln475=)
c.1374G>A (p.Gln458=)
c.1293G>A (p.Gln431=)
n.1677G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.18604349G>CCA412360859CDKL5c.1425G>C (p.Gln475His)
c.1374G>C (p.Gln458His)
c.1293G>C (p.Gln431His)
n.1677G>C
Xg.18604349G=CA2417974193CDKL5c.1425G= (p.Gln475=)
c.1374G= (p.Gln458=)
c.1293G= (p.Gln431=)
n.1677G=
Xg.18604349G>TCA412360861CDKL5c.1425G>T (p.Gln475His)
c.1374G>T (p.Gln458His)
c.1293G>T (p.Gln431His)
n.1677G>T
Xg.18604350T>ACA412360863CDKL5c.1426T>A (p.Ser476Thr)
c.1375T>A (p.Ser459Thr)
c.1294T>A (p.Ser432Thr)
n.1678T>A
 gnomAD v4
Xg.18604350T>CCA412360865CDKL5c.1426T>C (p.Ser476Pro)
c.1375T>C (p.Ser459Pro)
c.1294T>C (p.Ser432Pro)
n.1678T>C
Xg.18604350T>GCA412360867CDKL5c.1426T>G (p.Ser476Ala)
c.1375T>G (p.Ser459Ala)
c.1294T>G (p.Ser432Ala)
n.1678T>G
Xg.18604351C>ACA412360869CDKL5c.1427C>A (p.Ser476Tyr)
c.1376C>A (p.Ser459Tyr)
c.1295C>A (p.Ser432Tyr)
n.1679C>A
Xg.18604351C>GCA412360871CDKL5c.1427C>G (p.Ser476Cys)
c.1376C>G (p.Ser459Cys)
c.1295C>G (p.Ser432Cys)
n.1679C>G
Xg.18604351C>TCA412360872CDKL5c.1427C>T (p.Ser476Phe)
c.1376C>T (p.Ser459Phe)
c.1295C>T (p.Ser432Phe)
n.1679C>T
Xg.18604352C>ACA515627862CDKL5c.1428C>A (p.Ser476=)
c.1377C>A (p.Ser459=)
c.1296C>A (p.Ser432=)
n.1680C>A
Xg.18604352C>GCA515627863CDKL5c.1428C>G (p.Ser476=)
c.1377C>G (p.Ser459=)
c.1296C>G (p.Ser432=)
n.1680C>G
Xg.18604352C>TCA515627864CDKL5c.1428C>T (p.Ser476=)
c.1377C>T (p.Ser459=)
c.1296C>T (p.Ser432=)
n.1680C>T
 gnomAD v4
Xg.18604353T>ACA412360877CDKL5c.1429T>A (p.Ser477Thr)
c.1378T>A (p.Ser460Thr)
c.1297T>A (p.Ser433Thr)
n.1681T>A
Xg.18604353T>CCA412360875CDKL5c.1429T>C (p.Ser477Pro)
c.1378T>C (p.Ser460Pro)
c.1297T>C (p.Ser433Pro)
n.1681T>C
Xg.18604353T>GCA412360873CDKL5c.1429T>G (p.Ser477Ala)
c.1378T>G (p.Ser460Ala)
c.1297T>G (p.Ser433Ala)
n.1681T>G
Xg.18604354C>ACA412360881CDKL5c.1430C>A (p.Ser477Tyr)
c.1379C>A (p.Ser460Tyr)
c.1298C>A (p.Ser433Tyr)
n.1682C>A
Xg.18604354C=CA2417974196CDKL5c.1430C= (p.Ser477=)
c.1379C= (p.Ser460=)
c.1298C= (p.Ser433=)
n.1682C=
Xg.18604354C>GCA412360879CDKL5c.1430C>G (p.Ser477Cys)
c.1379C>G (p.Ser460Cys)
c.1298C>G (p.Ser433Cys)
n.1682C>G
Xg.18604354C>TCA326987799CDKL5c.1430C>T (p.Ser477Phe)
c.1379C>T (p.Ser460Phe)
c.1298C>T (p.Ser433Phe)
n.1682C>T
 dbSNP
Xg.18604355T>ACA515627868CDKL5c.1431T>A (p.Ser477=)
c.1380T>A (p.Ser460=)
c.1299T>A (p.Ser433=)
n.1683T>A
Xg.18604355T>CCA199329CDKL5c.1431T>C (p.Ser477=)
c.1380T>C (p.Ser460=)
c.1299T>C (p.Ser433=)
n.1683T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604355T>GCA515627867CDKL5c.1431T>G (p.Ser477=)
c.1380T>G (p.Ser460=)
c.1299T>G (p.Ser433=)
n.1683T>G
Xg.18604355T=CA2417974205CDKL5c.1431T= (p.Ser477=)
c.1380T= (p.Ser460=)
c.1299T= (p.Ser433=)
n.1683T=
Xg.18604355_18604359dupCA915950766CDKL5c.1431_1435dup (p.Ser479IlefsTer16)
c.1380_1384dup (p.Ser462IlefsTer16)
c.1299_1303dup (p.Ser435IlefsTer16)
n.1683_1687dup
 ClinVar dbSNP
Xg.18604356A=CA2417974209CDKL5c.1432A= (p.Arg478=)
c.1381A= (p.Arg461=)
c.1300A= (p.Arg434=)
n.1684A=
Xg.18604356A>CCA515627869CDKL5c.1432A>C (p.Arg478=)
c.1381A>C (p.Arg461=)
c.1300A>C (p.Arg434=)
n.1684A>C
Xg.18604356A>GCA412360884CDKL5c.1432A>G (p.Arg478Gly)
c.1381A>G (p.Arg461Gly)
c.1300A>G (p.Arg434Gly)
n.1684A>G
Xg.18604356A>TCA412360886CDKL5c.1432A>T (p.Arg478Trp)
c.1381A>T (p.Arg461Trp)
c.1300A>T (p.Arg434Trp)
n.1684A>T
Xg.18604356_18604357insTCA235609CDKL5c.1432_1433insT (p.Arg478MetfsTer17)
c.1381_1382insT (p.Arg461MetfsTer17)
c.1300_1301insT (p.Arg434MetfsTer17)
n.1684_1685insT
 ClinVar dbSNP
Xg.18604357G>ACA412360891CDKL5c.1433G>A (p.Arg478Lys)
c.1382G>A (p.Arg461Lys)
c.1301G>A (p.Arg434Lys)
n.1685G>A
Xg.18604357G>CCA412360889CDKL5c.1433G>C (p.Arg478Thr)
c.1382G>C (p.Arg461Thr)
c.1301G>C (p.Arg434Thr)
n.1685G>C
Xg.18604357G>TCA412360890CDKL5c.1433G>T (p.Arg478Met)
c.1382G>T (p.Arg461Met)
c.1301G>T (p.Arg434Met)
n.1685G>T
Xg.18604358G>ACA515627873CDKL5c.1434G>A (p.Arg478=)
c.1383G>A (p.Arg461=)
c.1302G>A (p.Arg434=)
n.1686G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.18604358G>CCA412360894CDKL5c.1434G>C (p.Arg478Ser)
c.1383G>C (p.Arg461Ser)
c.1302G>C (p.Arg434Ser)
n.1686G>C
Xg.18604358G=CA2417974215CDKL5c.1434G= (p.Arg478=)
c.1383G= (p.Arg461=)
c.1302G= (p.Arg434=)
n.1686G=
Xg.18604358G>TCA412360896CDKL5c.1434G>T (p.Arg478Ser)
c.1383G>T (p.Arg461Ser)
c.1302G>T (p.Arg434Ser)
n.1686G>T
Xg.18604359A>CCA412360898CDKL5c.1435A>C (p.Ser479Arg)
c.1384A>C (p.Ser462Arg)
c.1303A>C (p.Ser435Arg)
n.1687A>C
Xg.18604359A>GCA412360899CDKL5c.1435A>G (p.Ser479Gly)
c.1384A>G (p.Ser462Gly)
c.1303A>G (p.Ser435Gly)
n.1687A>G
 COSMIC
Xg.18604359A>TCA412360901CDKL5c.1435A>T (p.Ser479Cys)
c.1384A>T (p.Ser462Cys)
c.1303A>T (p.Ser435Cys)
n.1687A>T
Xg.18604360G>ACA412360903CDKL5c.1436G>A (p.Ser479Asn)
c.1385G>A (p.Ser462Asn)
c.1304G>A (p.Ser435Asn)
n.1688G>A
Xg.18604360G>CCA412360907CDKL5c.1436G>C (p.Ser479Thr)
c.1385G>C (p.Ser462Thr)
c.1304G>C (p.Ser435Thr)
n.1688G>C
Xg.18604360G>TCA412360905CDKL5c.1436G>T (p.Ser479Ile)
c.1385G>T (p.Ser462Ile)
c.1304G>T (p.Ser435Ile)
n.1688G>T
Xg.18604361T>ACA412360909CDKL5c.1437T>A (p.Ser479Arg)
c.1386T>A (p.Ser462Arg)
c.1305T>A (p.Ser435Arg)
n.1689T>A
 COSMIC
Xg.18604361T>CCA515627875CDKL5c.1437T>C (p.Ser479=)
c.1386T>C (p.Ser462=)
c.1305T>C (p.Ser435=)
n.1689T>C
Xg.18604361T>GCA412360911CDKL5c.1437T>G (p.Ser479Arg)
c.1386T>G (p.Ser462Arg)
c.1305T>G (p.Ser435Arg)
n.1689T>G
Xg.18604362C>ACA412360913CDKL5c.1438C>A (p.Pro480Thr)
c.1387C>A (p.Pro463Thr)
c.1306C>A (p.Pro436Thr)
n.1690C>A
 gnomAD v4
Xg.18604362C>GCA412360915CDKL5c.1438C>G (p.Pro480Ala)
c.1387C>G (p.Pro463Ala)
c.1306C>G (p.Pro436Ala)
n.1690C>G
Xg.18604362C>TCA412360916CDKL5c.1438C>T (p.Pro480Ser)
c.1387C>T (p.Pro463Ser)
c.1306C>T (p.Pro436Ser)
n.1690C>T
 COSMIC
Xg.18604363C>ACA412360919CDKL5c.1439C>A (p.Pro480His)
c.1388C>A (p.Pro463His)
c.1307C>A (p.Pro436His)
n.1691C>A
Xg.18604363C>GCA412360921CDKL5c.1439C>G (p.Pro480Arg)
c.1388C>G (p.Pro463Arg)
c.1307C>G (p.Pro436Arg)
n.1691C>G
 gnomAD v4
Xg.18604363C>TCA412360922CDKL5c.1439C>T (p.Pro480Leu)
c.1388C>T (p.Pro463Leu)
c.1307C>T (p.Pro436Leu)
n.1691C>T
Xg.18604364C>ACA515627877CDKL5c.1440C>A (p.Pro480=)
c.1389C>A (p.Pro463=)
c.1308C>A (p.Pro436=)
n.1692C>A
Xg.18604364C>GCA515627878CDKL5c.1440C>G (p.Pro480=)
c.1389C>G (p.Pro463=)
c.1308C>G (p.Pro436=)
n.1692C>G
Xg.18604364C>TCA515627879CDKL5c.1440C>T (p.Pro480=)
c.1389C>T (p.Pro463=)
c.1308C>T (p.Pro436=)
n.1692C>T
Xg.18604365T>ACA412360925CDKL5c.1441T>A (p.Ser481Thr)
c.1390T>A (p.Ser464Thr)
c.1309T>A (p.Ser437Thr)
n.1693T>A
Xg.18604365T>CCA412360926CDKL5c.1441T>C (p.Ser481Pro)
c.1390T>C (p.Ser464Pro)
c.1309T>C (p.Ser437Pro)
n.1693T>C
Xg.18604365T>GCA412360927CDKL5c.1441T>G (p.Ser481Ala)
c.1390T>G (p.Ser464Ala)
c.1309T>G (p.Ser437Ala)
n.1693T>G
Xg.18604366C>ACA412360932CDKL5c.1442C>A (p.Ser481Tyr)
c.1391C>A (p.Ser464Tyr)
c.1310C>A (p.Ser437Tyr)
n.1694C>A
Xg.18604366C=CA2417974218CDKL5c.1442C= (p.Ser481=)
c.1391C= (p.Ser464=)
c.1310C= (p.Ser437=)
n.1694C=
Xg.18604366C>GCA10360386CDKL5c.1442C>G (p.Ser481Cys)
c.1391C>G (p.Ser464Cys)
c.1310C>G (p.Ser437Cys)
n.1694C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604366C>TCA412360929CDKL5c.1442C>T (p.Ser481Phe)
c.1391C>T (p.Ser464Phe)
c.1310C>T (p.Ser437Phe)
n.1694C>T
Xg.18604367C>ACA515627982CDKL5c.1443C>A (p.Ser481=)
c.1392C>A (p.Ser464=)
c.1311C>A (p.Ser437=)
n.1695C>A
Xg.18604367C>GCA515627983CDKL5c.1443C>G (p.Ser481=)
c.1392C>G (p.Ser464=)
c.1311C>G (p.Ser437=)
n.1695C>G
Xg.18604367C>TCA515627984CDKL5c.1443C>T (p.Ser481=)
c.1392C>T (p.Ser464=)
c.1311C>T (p.Ser437=)
n.1695C>T
Xg.18604368T>ACA412360935CDKL5c.1444T>A (p.Tyr482Asn)
c.1393T>A (p.Tyr465Asn)
c.1312T>A (p.Tyr438Asn)
n.1696T>A
Xg.18604368T>CCA412360937CDKL5c.1444T>C (p.Tyr482His)
c.1393T>C (p.Tyr465His)
c.1312T>C (p.Tyr438His)
n.1696T>C
Xg.18604368T>GCA412360938CDKL5c.1444T>G (p.Tyr482Asp)
c.1393T>G (p.Tyr465Asp)
c.1312T>G (p.Tyr438Asp)
n.1696T>G

Number of alleles fetched