ClinVar Miner

List of variants in gene CDKL5 studied for epilepsy

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 959
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HGVS dbSNP gnomAD frequency
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150 0.03249
NM_001323289.2(CDKL5):c.555-19C>G rs75057928 0.02527
NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957 0.00451
NM_001323289.2(CDKL5):c.145+17A>G rs199814742 0.00355
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616 0.00210
NM_001323289.2(CDKL5):c.283-12T>C rs188879559 0.00110
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225 0.00099
NM_001323289.2(CDKL5):c.2466C>G (p.Arg822=) rs146488512 0.00085
NM_001323289.2(CDKL5):c.2046+12del rs766762463 0.00076
NM_001323289.2(CDKL5):c.2022C>G (p.Ser674=) rs763419895 0.00050
NM_001323289.2(CDKL5):c.1338A>T (p.Ser446=) rs139329419 0.00033
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148 0.00029
NM_001323289.2(CDKL5):c.1548C>T (p.Tyr516=) rs751789670 0.00029
NM_001323289.2(CDKL5):c.2652C>T (p.Gly884=) rs201473442 0.00024
NM_001323289.2(CDKL5):c.2445C>T (p.Ser815=) rs371902632 0.00021
NM_001323289.2(CDKL5):c.2276+12G>C rs372909446 0.00020
NM_001323289.2(CDKL5):c.180G>A (p.Glu60=) rs148697943 0.00018
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977 0.00014
NM_001323289.2(CDKL5):c.464-9A>G rs374030184 0.00013
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564 0.00012
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu) rs587783156 0.00012
NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=) rs373448935 0.00011
NM_001323289.2(CDKL5):c.283-13A>G rs587783404 0.00011
NM_001323289.2(CDKL5):c.2157A>T (p.Pro719=) rs200333632 0.00010
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460 0.00010
NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr) rs201893287 0.00009
NM_001323289.2(CDKL5):c.554+10C>T rs755385076 0.00009
NM_001323289.2(CDKL5):c.513C>T (p.Tyr171=) rs267608490 0.00008
NM_001323289.2(CDKL5):c.1233C>T (p.Ala411=) rs907733307 0.00007
NM_001323289.2(CDKL5):c.1527G>A (p.Ala509=) rs369561849 0.00007
NM_001323289.2(CDKL5):c.1818A>G (p.Gln606=) rs587783154 0.00007
NM_001323289.2(CDKL5):c.2256A>G (p.Arg752=) rs770193102 0.00007
NM_001323289.2(CDKL5):c.1064G>A (p.Arg355Gln) rs189400843 0.00006
NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val) rs781427744 0.00006
NM_001323289.2(CDKL5):c.1721C>T (p.Pro574Leu) rs199897804 0.00006
NM_001323289.2(CDKL5):c.603T>C (p.Leu201=) rs763478005 0.00006
NM_001323289.2(CDKL5):c.761A>G (p.His254Arg) rs1481627825 0.00006
NM_001323289.2(CDKL5):c.192T>G (p.Leu64=) rs145496868 0.00005
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878 0.00005
NM_001323289.2(CDKL5):c.2265A>T (p.Ala755=) rs727503846 0.00005
NM_001323289.2(CDKL5):c.2469C>T (p.Pro823=) rs369377144 0.00005
NM_001323289.2(CDKL5):c.283-14T>C rs776132140 0.00005
NM_001323289.2(CDKL5):c.350A>G (p.Tyr117Cys) rs1189749755 0.00005
NM_001323289.2(CDKL5):c.64+19G>A rs776988929 0.00005
NM_001323289.2(CDKL5):c.747T>C (p.Phe249=) rs1249923057 0.00005
NM_001323289.2(CDKL5):c.950A>G (p.His317Arg) rs756537286 0.00005
NM_001323289.2(CDKL5):c.100-7C>T rs752279222 0.00004
NM_001323289.2(CDKL5):c.1116T>A (p.Ala372=) rs148302590 0.00004
NM_001323289.2(CDKL5):c.1122T>A (p.Ala374=) rs141452495 0.00004
NM_001323289.2(CDKL5):c.145+6T>G rs753819165 0.00004
NM_001323289.2(CDKL5):c.145+8T>G rs757030306 0.00004
NM_001323289.2(CDKL5):c.1768G>A (p.Glu590Lys) rs372629988 0.00004
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320 0.00004
NM_001323289.2(CDKL5):c.2465G>A (p.Arg822His) rs376429571 0.00004
NM_001323289.2(CDKL5):c.2567A>T (p.Asp856Val) rs770426025 0.00004
NM_001323289.2(CDKL5):c.2573G>A (p.Arg858His) rs759083770 0.00004
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=) rs138125282 0.00004
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=) rs140332992 0.00004
NM_001323289.2(CDKL5):c.987C>T (p.Ala329=) rs142665931 0.00004
NM_001323289.2(CDKL5):c.1027A>G (p.Ser343Gly) rs371313385 0.00003
NM_001323289.2(CDKL5):c.1071C>T (p.Asp357=) rs144204039 0.00003
NM_001323289.2(CDKL5):c.1526C>T (p.Ala509Val) rs779325312 0.00003
NM_001323289.2(CDKL5):c.1614G>A (p.Thr538=) rs147300538 0.00003
NM_001323289.2(CDKL5):c.1730T>C (p.Met577Thr) rs749822712 0.00003
NM_001323289.2(CDKL5):c.2046+9C>T rs1215810014 0.00003
NM_001323289.2(CDKL5):c.2067A>G (p.Pro689=) rs774307489 0.00003
NM_001323289.2(CDKL5):c.2086G>A (p.Ala696Thr) rs374518046 0.00003
NM_001323289.2(CDKL5):c.2497-17C>T rs780795025 0.00003
NM_001323289.2(CDKL5):c.249A>G (p.Gly83=) rs764954859 0.00003
NM_001323289.2(CDKL5):c.2546C>T (p.Ser849Leu) rs1064795982 0.00003
NM_001323289.2(CDKL5):c.282+19A>G rs781452978 0.00003
NM_001323289.2(CDKL5):c.554+19A>G rs911879541 0.00003
NM_001323289.2(CDKL5):c.724C>A (p.Pro242Thr) rs1161142799 0.00003
NM_001323289.2(CDKL5):c.909G>A (p.Leu303=) rs1159901195 0.00003
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206 0.00002
NM_001323289.2(CDKL5):c.1080C>T (p.Leu360=) rs911838999 0.00002
NM_001323289.2(CDKL5):c.1098C>T (p.Phe366=) rs777079786 0.00002
NM_001323289.2(CDKL5):c.1396C>T (p.Arg466Trp) rs1310879766 0.00002
NM_001323289.2(CDKL5):c.145+12T>G rs1394726020 0.00002
NM_001323289.2(CDKL5):c.1476G>A (p.Leu492=) rs1458249124 0.00002
NM_001323289.2(CDKL5):c.1616G>C (p.Arg539Thr) rs1356745875 0.00002
NM_001323289.2(CDKL5):c.1673G>A (p.Arg558His) rs763991639 0.00002
NM_001323289.2(CDKL5):c.1701G>A (p.Thr567=) rs751738489 0.00002
NM_001323289.2(CDKL5):c.1711T>C (p.Leu571=) rs755177112 0.00002
NM_001323289.2(CDKL5):c.1910C>G (p.Ala637Gly) rs750727784 0.00002
NM_001323289.2(CDKL5):c.194G>A (p.Arg65Gln) rs267608436 0.00002
NM_001323289.2(CDKL5):c.1968G>A (p.Glu656=) rs1451908414 0.00002
NM_001323289.2(CDKL5):c.2152+15G>A rs1441325648 0.00002
NM_001323289.2(CDKL5):c.238C>T (p.Arg80Cys) rs1466254546 0.00002
NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met) rs1005844306 0.00002
NM_001323289.2(CDKL5):c.2464C>T (p.Arg822Cys) rs780609419 0.00002
NM_001323289.2(CDKL5):c.2487G>A (p.Leu829=) rs1467875005 0.00002
NM_001323289.2(CDKL5):c.2502G>T (p.Gln834His) rs1334119558 0.00002
NM_001323289.2(CDKL5):c.2520C>T (p.Arg840=) rs1037569177 0.00002
NM_001323289.2(CDKL5):c.2572C>T (p.Arg858Cys) rs773760466 0.00002
NM_001323289.2(CDKL5):c.2581C>T (p.Pro861Ser) rs1430214724 0.00002
NM_001323289.2(CDKL5):c.2714G>A (p.Gly905Asp) rs1475195158 0.00002
NM_001323289.2(CDKL5):c.844C>G (p.Pro282Ala) rs1926077779 0.00002
NM_001323289.2(CDKL5):c.886A>G (p.Thr296Ala) rs751995225 0.00002
NM_001323289.2(CDKL5):c.1038C>T (p.Ile346=) rs754663076 0.00001
NM_001323289.2(CDKL5):c.1051G>A (p.Val351Ile) rs587783150 0.00001
NM_001323289.2(CDKL5):c.1066G>C (p.Ala356Pro) rs774594152 0.00001
NM_001323289.2(CDKL5):c.1076G>C (p.Gly359Ala) rs1207429249 0.00001
NM_001323289.2(CDKL5):c.1086C>T (p.Ala362=) rs761253221 0.00001
NM_001323289.2(CDKL5):c.1088A>G (p.Asn363Ser) rs755167459 0.00001
NM_001323289.2(CDKL5):c.1094G>A (p.Ser365Asn) rs1279388510 0.00001
NM_001323289.2(CDKL5):c.1177A>G (p.Thr393Ala) rs1187227979 0.00001
NM_001323289.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611 0.00001
NM_001323289.2(CDKL5):c.1230A>C (p.Glu410Asp) rs762247736 0.00001
NM_001323289.2(CDKL5):c.1234A>G (p.Lys412Glu) rs770340766 0.00001
NM_001323289.2(CDKL5):c.1278A>C (p.Ser426=) rs267608620 0.00001
NM_001323289.2(CDKL5):c.1286C>T (p.Pro429Leu) rs377263491 0.00001
NM_001323289.2(CDKL5):c.1337C>T (p.Ser446Leu) rs1926273872 0.00001
NM_001323289.2(CDKL5):c.1386A>C (p.Glu462Asp) rs748731763 0.00001
NM_001323289.2(CDKL5):c.1389G>A (p.Lys463=) rs773733498 0.00001
NM_001323289.2(CDKL5):c.1397G>A (p.Arg466Gln) rs748907380 0.00001
NM_001323289.2(CDKL5):c.13A>G (p.Asn5Asp) rs767844474 0.00001
NM_001323289.2(CDKL5):c.1400A>G (p.His467Arg) rs267608631 0.00001
NM_001323289.2(CDKL5):c.1422C>T (p.Pro474=) rs773921712 0.00001
NM_001323289.2(CDKL5):c.1446C>T (p.Tyr482=) rs372655753 0.00001
NM_001323289.2(CDKL5):c.1452C>A (p.Thr484=) rs760623086 0.00001
NM_001323289.2(CDKL5):c.1579C>T (p.Pro527Ser) rs1275389347 0.00001
NM_001323289.2(CDKL5):c.1600A>G (p.Arg534Gly) rs749639424 0.00001
NM_001323289.2(CDKL5):c.1613C>T (p.Thr538Met) rs1413837885 0.00001
NM_001323289.2(CDKL5):c.1636G>A (p.Gly546Arg) rs587783153 0.00001
NM_001323289.2(CDKL5):c.1649G>A (p.Arg550Gln) rs745508309 0.00001
NM_001323289.2(CDKL5):c.1676G>A (p.Arg559Gln) rs1926294168 0.00001
NM_001323289.2(CDKL5):c.1678A>G (p.Thr560Ala) rs587783400 0.00001
NM_001323289.2(CDKL5):c.1684A>G (p.Thr562Ala) rs376341076 0.00001
NM_001323289.2(CDKL5):c.1692T>C (p.His564=) rs765011302 0.00001
NM_001323289.2(CDKL5):c.1722G>A (p.Pro574=) rs371603866 0.00001
NM_001323289.2(CDKL5):c.1752A>G (p.Ser584=) rs1282721902 0.00001
NM_001323289.2(CDKL5):c.1767C>T (p.His589=) rs267608645 0.00001
NM_001323289.2(CDKL5):c.176G>A (p.Arg59Gln) rs1555949009 0.00001
NM_001323289.2(CDKL5):c.1786C>T (p.Leu596=) rs776627003 0.00001
NM_001323289.2(CDKL5):c.1791C>T (p.Gly597=) rs1238731278 0.00001
NM_001323289.2(CDKL5):c.1821T>G (p.Arg607=) rs1352220667 0.00001
NM_001323289.2(CDKL5):c.1827T>C (p.His609=) rs764272402 0.00001
NM_001323289.2(CDKL5):c.1909G>C (p.Ala637Pro) rs1330464637 0.00001
NM_001323289.2(CDKL5):c.2014A>T (p.Thr672Ser) rs1926449880 0.00001
NM_001323289.2(CDKL5):c.2031A>G (p.Thr677=) rs1416458696 0.00001
NM_001323289.2(CDKL5):c.2046+16A>G rs1157430431 0.00001
NM_001323289.2(CDKL5):c.2107C>G (p.Leu703Val) rs776965205 0.00001
NM_001323289.2(CDKL5):c.2109A>T (p.Leu703=) rs761789190 0.00001
NM_001323289.2(CDKL5):c.2152+10C>G rs763466606 0.00001
NM_001323289.2(CDKL5):c.2152+14C>T rs766682793 0.00001
NM_001323289.2(CDKL5):c.2152+9A>C rs903712991 0.00001
NM_001323289.2(CDKL5):c.2194G>A (p.Val732Met) rs888325600 0.00001
NM_001323289.2(CDKL5):c.2220A>G (p.Pro740=) rs142079769 0.00001
NM_001323289.2(CDKL5):c.2241C>T (p.Thr747=) rs753606345 0.00001
NM_001323289.2(CDKL5):c.2244C>T (p.Asn748=) rs963899526 0.00001
NM_001323289.2(CDKL5):c.2272C>T (p.Pro758Ser) rs1210870589 0.00001
NM_001323289.2(CDKL5):c.2277-7C>T rs1245961569 0.00001
NM_001323289.2(CDKL5):c.2318A>G (p.Glu773Gly) rs1218990219 0.00001
NM_001323289.2(CDKL5):c.2377G>A (p.Val793Ile) rs754699773 0.00001
NM_001323289.2(CDKL5):c.2388C>T (p.Ser796=) rs727503847 0.00001
NM_001323289.2(CDKL5):c.2444G>T (p.Ser815Ile) rs1449425691 0.00001
NM_001323289.2(CDKL5):c.2490G>C (p.Gln830His) rs1485485459 0.00001
NM_001323289.2(CDKL5):c.2496+14G>A rs1189045100 0.00001
NM_001323289.2(CDKL5):c.2541G>A (p.Ser847=) rs781774964 0.00001
NM_001323289.2(CDKL5):c.2556G>A (p.Pro852=) rs748905018 0.00001
NM_001323289.2(CDKL5):c.2653G>A (p.Gly885Arg) rs398123694 0.00001
NM_001323289.2(CDKL5):c.2679C>G (p.Pro893=) rs777919249 0.00001
NM_001323289.2(CDKL5):c.2680G>A (p.Ala894Thr) rs763110247 0.00001
NM_001323289.2(CDKL5):c.2684C>T (p.Pro895Leu) rs587783157 0.00001
NM_001323289.2(CDKL5):c.333A>G (p.Lys111=) rs786204955 0.00001
NM_001323289.2(CDKL5):c.375G>C (p.Trp125Cys) rs372825651 0.00001
NM_001323289.2(CDKL5):c.403+5G>A rs1342864362 0.00001
NM_001323289.2(CDKL5):c.404-9A>G rs1037467164 0.00001
NM_001323289.2(CDKL5):c.463+8A>G rs769244237 0.00001
NM_001323289.2(CDKL5):c.473G>A (p.Arg158His) rs757402424 0.00001
NM_001323289.2(CDKL5):c.554+11G>A rs267608498 0.00001
NM_001323289.2(CDKL5):c.555C>T (p.Gly185=) rs904580767 0.00001
NM_001323289.2(CDKL5):c.556G>A (p.Ala186Thr) rs765304446 0.00001
NM_001323289.2(CDKL5):c.576G>A (p.Val192=) rs1461167746 0.00001
NM_001323289.2(CDKL5):c.65-13C>T rs532222548 0.00001
NM_001323289.2(CDKL5):c.65-4A>G rs777490768 0.00001
NM_001323289.2(CDKL5):c.743G>A (p.Arg248Gln) rs1064795857 0.00001
NM_001323289.2(CDKL5):c.7A>T (p.Ile3Phe) rs138539908 0.00001
NM_001323289.2(CDKL5):c.858C>T (p.Tyr286=) rs766511365 0.00001
NM_001323289.2(CDKL5):c.904C>T (p.Leu302Phe) rs267608547 0.00001
NM_001323289.2(CDKL5):c.913C>T (p.Arg305Cys) rs1064794671 0.00001
NM_001323289.2(CDKL5):c.915T>C (p.Arg305=) rs1170498240 0.00001
NM_001323289.2(CDKL5):c.933A>G (p.Ala311=) rs1348754333 0.00001
NM_001323289.2(CDKL5):c.939A>G (p.Arg313=) rs370986597 0.00001
NM_001323289.2(CDKL5):c.967T>C (p.Leu323=) rs527360143 0.00001
NM_001323289.2(CDKL5):c.973A>G (p.Asn325Asp) rs756721244 0.00001
NC_000023.10:g.(?_18525053)_(18525300_?)del
NC_000023.10:g.(?_18525053)_(18613568_?)del
NC_000023.10:g.(?_18525053)_(18616753_?)dup
NC_000023.10:g.(?_18525053)_(18622998_?)del
NC_000023.10:g.(?_18525053)_(18623008_?)dup
NC_000023.10:g.(?_18525055)_(18528974_?)dup
NC_000023.10:g.(?_18525211)_(18528980_?)dup
NC_000023.10:g.(?_18534398)_(18600033_?)del
NC_000023.10:g.(?_18582577)_(18598108_?)del
NC_000023.10:g.(?_18582577)_(18627710_?)dup
NC_000023.10:g.(?_18582577)_(18631415_?)dup
NC_000023.10:g.(?_18582577)_(18646727_?)del
NC_000023.10:g.(?_18582587)_(18627700_?)dup
NC_000023.10:g.(?_18593454)_(18598108_?)del
NC_000023.10:g.(?_18599991)_(18600090_?)dup
NC_000023.10:g.(?_18626911)_(18643387_?)del
NC_000023.11:g.(18581559_18597843)dup
NC_000023.11:g.(?_18506933)_(18510874_?)del
NC_000023.11:g.(?_18506933)_(18604888_?)del
NC_000023.11:g.(?_18564457)_(18581970_?)del
NC_000023.11:g.(?_18595328)_(18595448_?)del
NC_000023.11:g.(?_18628351)_(18628607_?)del
NC_000023.11:g.18598477_18598478insTTCAGCAAAGTCTCAGGATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATTTACTGAAGTTGG
NC_000023.11:g.18619867del
NM_001037343.1:c.100-?_744+?dup
NM_001323289.2(CDKL5):c.-162-2A>G rs786204973
NM_001323289.2(CDKL5):c.100-20C>T
NM_001323289.2(CDKL5):c.100-2A>G rs267608423
NM_001323289.2(CDKL5):c.100-3C>G rs2147132216
NM_001323289.2(CDKL5):c.1006C>T (p.Gln336Ter) rs1057518203
NM_001323289.2(CDKL5):c.1008_1029del (p.Ser337fs) rs786204964
NM_001323289.2(CDKL5):c.100G>T (p.Glu34Ter)
NM_001323289.2(CDKL5):c.1011T>C (p.Ser337=)
NM_001323289.2(CDKL5):c.1011dup (p.His338fs) rs2147160162
NM_001323289.2(CDKL5):c.1012C>T (p.His338Tyr)
NM_001323289.2(CDKL5):c.1033G>A (p.Asp345Asn)
NM_001323289.2(CDKL5):c.1039C>T (p.Gln347Ter) rs267608561
NM_001323289.2(CDKL5):c.103A>C (p.Thr35Pro) rs1924898828
NM_001323289.2(CDKL5):c.103A>G (p.Thr35Ala)
NM_001323289.2(CDKL5):c.1049G>A (p.Ser350Asn)
NM_001323289.2(CDKL5):c.1053_1056dup (p.Leu353fs) rs2147160237
NM_001323289.2(CDKL5):c.105A>G (p.Thr35=)
NM_001323289.2(CDKL5):c.1062C>T (p.Pro354=)
NM_001323289.2(CDKL5):c.1065G>A (p.Arg355=)
NM_001323289.2(CDKL5):c.1066dup (p.Ala356fs) rs2147160283
NM_001323289.2(CDKL5):c.106_107del (p.Thr35_His36insTer) rs2147132223
NM_001323289.2(CDKL5):c.1075G>A (p.Gly359Ser)
NM_001323289.2(CDKL5):c.1079del (p.Leu360fs) rs267608565
NM_001323289.2(CDKL5):c.1082del (p.Pro361fs)
NM_001323289.2(CDKL5):c.1082dup (p.Ala362fs) rs267608566
NM_001323289.2(CDKL5):c.108_110del (p.His36_Glu37delinsGln) rs2147132235
NM_001323289.2(CDKL5):c.1094G>C (p.Ser365Thr) rs1279388510
NM_001323289.2(CDKL5):c.1094dup (p.Ser365fs) rs1926261579
NM_001323289.2(CDKL5):c.1099C>T (p.Leu367=) rs1602286005
NM_001323289.2(CDKL5):c.1102A>G (p.Asn368Asp)
NM_001323289.2(CDKL5):c.1103dup (p.Asn368fs) rs1926262196
NM_001323289.2(CDKL5):c.1106G>A (p.Gly369Glu)
NM_001323289.2(CDKL5):c.1106del (p.Gly369fs)
NM_001323289.2(CDKL5):c.1136T>G (p.Leu379Arg)
NM_001323289.2(CDKL5):c.1147_1151del (p.Thr383fs) rs1569219331
NM_001323289.2(CDKL5):c.1152C>T (p.Tyr384=)
NM_001323289.2(CDKL5):c.1164C>T (p.Ser388=)
NM_001323289.2(CDKL5):c.1166A>T (p.Gln389Leu)
NM_001323289.2(CDKL5):c.1166_1169del (p.Gln389fs)
NM_001323289.2(CDKL5):c.116T>G (p.Val39Gly) rs1924899673
NM_001323289.2(CDKL5):c.1180_1181dup (p.Ser394fs)
NM_001323289.2(CDKL5):c.1188T>A (p.Asp396Glu)
NM_001323289.2(CDKL5):c.1196A>G (p.Asn399Ser) rs267608611
NM_001323289.2(CDKL5):c.1198A>C (p.Asn400His) rs921600020
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_001323289.2(CDKL5):c.1208del (p.Pro403fs)
NM_001323289.2(CDKL5):c.1209A>G (p.Pro403=)
NM_001323289.2(CDKL5):c.120G>C (p.Ala40=)
NM_001323289.2(CDKL5):c.1213C>G (p.Leu405Val) rs1555951984
NM_001323289.2(CDKL5):c.1213CTT[1] (p.Leu406del) rs759725174
NM_001323289.2(CDKL5):c.1230A>T (p.Glu410Asp)
NM_001323289.2(CDKL5):c.1238C>A (p.Ser413Ter) rs267608618
NM_001323289.2(CDKL5):c.1238C>G (p.Ser413Ter) rs267608618
NM_001323289.2(CDKL5):c.1242A>G (p.Lys414=)
NM_001323289.2(CDKL5):c.1246G>T (p.Glu416Ter) rs1555951991
NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs) rs786204967
NM_001323289.2(CDKL5):c.125A>G (p.Lys42Arg) rs267608429
NM_001323289.2(CDKL5):c.1272G>A (p.Lys424=) rs1926270928
NM_001323289.2(CDKL5):c.1273C>T (p.Pro425Ser) rs1926271094
NM_001323289.2(CDKL5):c.1287A>G (p.Pro429=) rs2147160563
NM_001323289.2(CDKL5):c.1287dup (p.Gly430fs)
NM_001323289.2(CDKL5):c.1288G>A (p.Gly430Arg)
NM_001323289.2(CDKL5):c.1291A>G (p.Thr431Ala)
NM_001323289.2(CDKL5):c.1296_1298del (p.Lys432_Tyr433delinsAsn) rs1555951997
NM_001323289.2(CDKL5):c.1297T>C (p.Tyr433His)
NM_001323289.2(CDKL5):c.1311C>T (p.Asn437=)
NM_001323289.2(CDKL5):c.1314C>A (p.Ser438Arg)
NM_001323289.2(CDKL5):c.1317A>G (p.Arg439=) rs2147160587
NM_001323289.2(CDKL5):c.1321C>T (p.Gln441Ter)
NM_001323289.2(CDKL5):c.1328A>T (p.Asn443Ile)
NM_001323289.2(CDKL5):c.1330_1342del (p.Arg444fs)
NM_001323289.2(CDKL5):c.1337C>G (p.Ser446Ter)
NM_001323289.2(CDKL5):c.1339T>C (p.Phe447Leu)
NM_001323289.2(CDKL5):c.1344G>A (p.Met448Ile) rs1555952013
NM_001323289.2(CDKL5):c.1345G>T (p.Glu449Ter) rs1555952015
NM_001323289.2(CDKL5):c.1345_1346del (p.Glu449fs) rs587783398
NM_001323289.2(CDKL5):c.135G>C (p.Lys45Asn) rs1602263431
NM_001323289.2(CDKL5):c.135G>T (p.Lys45Asn) rs1602263431
NM_001323289.2(CDKL5):c.1375C>T (p.Gln459Ter) rs786204969
NM_001323289.2(CDKL5):c.1377G>A (p.Gln459=) rs2147160664
NM_001323289.2(CDKL5):c.1382A>G (p.Asn461Ser) rs267608629
NM_001323289.2(CDKL5):c.1382A>T (p.Asn461Ile) rs267608629
NM_001323289.2(CDKL5):c.1387A>G (p.Lys463Glu)
NM_001323289.2(CDKL5):c.1400A>C (p.His467Pro) rs267608631
NM_001323289.2(CDKL5):c.1404C>G (p.Ser468Arg) rs1926278693
NM_001323289.2(CDKL5):c.1413C>T (p.Asp471=) rs2147160714
NM_001323289.2(CDKL5):c.1414A>G (p.Thr472Ala)
NM_001323289.2(CDKL5):c.1415_1416del (p.Thr472fs)
NM_001323289.2(CDKL5):c.1419del (p.Gln475fs) rs2147160726
NM_001323289.2(CDKL5):c.1425G>A (p.Gln475=)
NM_001323289.2(CDKL5):c.1431_1435dup (p.Ser479fs) rs1602286391
NM_001323289.2(CDKL5):c.1442C>G (p.Ser481Cys)
NM_001323289.2(CDKL5):c.1446del (p.Ser481_Tyr482insTer) rs2147160749
NM_001323289.2(CDKL5):c.145+17_145+42del rs1305984337
NM_001323289.2(CDKL5):c.145+1G>A rs2147132274
NM_001323289.2(CDKL5):c.145+4_145+5dup rs776844003
NM_001323289.2(CDKL5):c.145+5AT[10] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[11] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[13] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[14] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[15] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[6] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[8]
NM_001323289.2(CDKL5):c.145+5AT[9]
NM_001323289.2(CDKL5):c.1452del (p.Lys485fs)
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del) rs587783114
NM_001323289.2(CDKL5):c.146-14T>G
NM_001323289.2(CDKL5):c.146-15T>C
NM_001323289.2(CDKL5):c.146-16A>G
NM_001323289.2(CDKL5):c.146-18_146-16del
NM_001323289.2(CDKL5):c.146-1G>A rs587783399
NM_001323289.2(CDKL5):c.146-1G>T
NM_001323289.2(CDKL5):c.146-2A>C rs2147139522
NM_001323289.2(CDKL5):c.146-7A>G
NM_001323289.2(CDKL5):c.146-8C>T
NM_001323289.2(CDKL5):c.1463G>C (p.Ser488Thr)
NM_001323289.2(CDKL5):c.1464_1488del (p.His489fs)
NM_001323289.2(CDKL5):c.1467_1486del (p.His489fs)
NM_001323289.2(CDKL5):c.1477A>T (p.Ser493Cys) rs2147160801
NM_001323289.2(CDKL5):c.1485dup (p.Lys496fs) rs1926283743
NM_001323289.2(CDKL5):c.1486A>T (p.Lys496Ter) rs1926283887
NM_001323289.2(CDKL5):c.1506dup (p.Glu503Ter)
NM_001323289.2(CDKL5):c.1515G>A (p.Arg505=)
NM_001323289.2(CDKL5):c.1519C>T (p.Gln507Ter) rs1555952052
NM_001323289.2(CDKL5):c.1540A>G (p.Ser514Gly)
NM_001323289.2(CDKL5):c.1542T>C (p.Ser514=)
NM_001323289.2(CDKL5):c.1548C>A (p.Tyr516Ter) rs751789670
NM_001323289.2(CDKL5):c.154G>T (p.Glu52Ter) rs1925261282
NM_001323289.2(CDKL5):c.1552C>T (p.Pro518Ser)
NM_001323289.2(CDKL5):c.1553del (p.Pro518fs) rs886042899
NM_001323289.2(CDKL5):c.1554A>G (p.Pro518=)
NM_001323289.2(CDKL5):c.1580C>T (p.Pro527Leu) rs748615147
NM_001323289.2(CDKL5):c.1584dup (p.Ser529fs) rs2147160886
NM_001323289.2(CDKL5):c.1590A>C (p.Pro530=) rs891117762
NM_001323289.2(CDKL5):c.1592C>T (p.Thr531Ile)
NM_001323289.2(CDKL5):c.1596C>T (p.Pro532=)
NM_001323289.2(CDKL5):c.1596del (p.Thr533fs) rs1555952078
NM_001323289.2(CDKL5):c.1602A>C (p.Arg534Ser) rs1385183228
NM_001323289.2(CDKL5):c.1613C>A (p.Thr538Lys)
NM_001323289.2(CDKL5):c.1628dup (p.Ser543fs) rs2147160942
NM_001323289.2(CDKL5):c.163G>T (p.Glu55Ter)
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_001323289.2(CDKL5):c.1640G>A (p.Arg547Lys)
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter) rs267608643
NM_001323289.2(CDKL5):c.1657G>A (p.Gly553Arg)
NM_001323289.2(CDKL5):c.1667A>G (p.Asp556Gly) rs2147160978
NM_001323289.2(CDKL5):c.1669T>C (p.Ser557Pro)
NM_001323289.2(CDKL5):c.1671dup (p.Arg558fs) rs587783115
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.1684_1687del (p.Thr562fs) rs1555952101
NM_001323289.2(CDKL5):c.1686del (p.Arg563fs) rs2147161009
NM_001323289.2(CDKL5):c.1689A>C (p.Arg563Ser)
NM_001323289.2(CDKL5):c.1689A>T (p.Arg563Ser) rs2147161018
NM_001323289.2(CDKL5):c.1691A>G (p.His564Arg) rs1602286720
NM_001323289.2(CDKL5):c.16A>G (p.Ile6Val)
NM_001323289.2(CDKL5):c.1700C>T (p.Thr567Met)
NM_001323289.2(CDKL5):c.1701G>T (p.Thr567=) rs751738489
NM_001323289.2(CDKL5):c.170_177del (p.Thr57fs)
NM_001323289.2(CDKL5):c.1713G>A (p.Leu571=)
NM_001323289.2(CDKL5):c.1721C>A (p.Pro574Gln) rs199897804
NM_001323289.2(CDKL5):c.1731G>A (p.Met577Ile) rs757573258
NM_001323289.2(CDKL5):c.173T>A (p.Leu58Ter) rs875989950
NM_001323289.2(CDKL5):c.173_174insGGCCCGGCGCGGTGGCTCACGCCTGTAATACCAGCACTTATGGAGGCCGAGGCGGGCGGATCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAACGACTTT (p.Leu58_Arg59insAlaArgArgGlyGlySerArgLeuTer)
NM_001323289.2(CDKL5):c.1741del (p.His581fs)
NM_001323289.2(CDKL5):c.1742dup (p.His581fs) rs1602286792
NM_001323289.2(CDKL5):c.1744del (p.Ser582fs)
NM_001323289.2(CDKL5):c.1745C>T (p.Ser582Phe) rs1378912528
NM_001323289.2(CDKL5):c.1755_1756del (p.Ser586fs) rs1926298521
NM_001323289.2(CDKL5):c.1756_1759del (p.Ser586fs) rs1926298368
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter) rs62653623
NM_001323289.2(CDKL5):c.1766A>G (p.His589Arg) rs2147161126
NM_001323289.2(CDKL5):c.1767C>A (p.His589Gln)
NM_001323289.2(CDKL5):c.176G>C (p.Arg59Pro) rs1555949009
NM_001323289.2(CDKL5):c.1772C>A (p.Ser591Tyr)
NM_001323289.2(CDKL5):c.1784dup (p.Leu596fs) rs786204974
NM_001323289.2(CDKL5):c.178G>C (p.Glu60Gln) rs1925262394
NM_001323289.2(CDKL5):c.1790del (p.Gly597fs)
NM_001323289.2(CDKL5):c.1795A>G (p.Thr599Ala) rs761662406
NM_001323289.2(CDKL5):c.1797dup (p.Ser600fs) rs587783401
NM_001323289.2(CDKL5):c.1799G>T (p.Ser600Ile) rs2147161196
NM_001323289.2(CDKL5):c.179A>G (p.Glu60Gly)
NM_001323289.2(CDKL5):c.17T>C (p.Ile6Thr)
NM_001323289.2(CDKL5):c.1800C>T (p.Ser600=)
NM_001323289.2(CDKL5):c.1803C>G (p.Pro601=)
NM_001323289.2(CDKL5):c.1813C>T (p.Gln605Ter) rs1926301954
NM_001323289.2(CDKL5):c.1815G>A (p.Gln605=)
NM_001323289.2(CDKL5):c.1816C>T (p.Gln606Ter) rs1602286899
NM_001323289.2(CDKL5):c.1821T>C (p.Arg607=)
NM_001323289.2(CDKL5):c.1837A>G (p.Met613Val)
NM_001323289.2(CDKL5):c.183del (p.Met63fs) rs62643608
NM_001323289.2(CDKL5):c.1852_1853insT (p.Asp618fs) rs1926303951
NM_001323289.2(CDKL5):c.1866C>T (p.Ala622=)
NM_001323289.2(CDKL5):c.1874T>G (p.Leu625Trp)
NM_001323289.2(CDKL5):c.1883G>A (p.Ser628Asn) rs2147161274
NM_001323289.2(CDKL5):c.1883del (p.Ser628fs) rs1926305134
NM_001323289.2(CDKL5):c.1888A>C (p.Ser630Arg)
NM_001323289.2(CDKL5):c.1890C>T (p.Ser630=) rs2147161290
NM_001323289.2(CDKL5):c.1891A>G (p.Ile631Val) rs1569219817
NM_001323289.2(CDKL5):c.1896del (p.Gln633fs) rs2147161299
NM_001323289.2(CDKL5):c.1906G>T (p.Ala636Ser)
NM_001323289.2(CDKL5):c.191T>C (p.Leu64Pro) rs267608435
NM_001323289.2(CDKL5):c.1922G>T (p.Ser641Ile) rs1602287027
NM_001323289.2(CDKL5):c.1927C>T (p.Gln643Ter) rs2147161353
NM_001323289.2(CDKL5):c.1930C>T (p.Leu644Phe) rs1057524785
NM_001323289.2(CDKL5):c.1944+15C>G
NM_001323289.2(CDKL5):c.1945-5T>C rs1064796245
NM_001323289.2(CDKL5):c.1945-8A>C rs2147164149
NM_001323289.2(CDKL5):c.1947T>C (p.Pro649=) rs2147164157
NM_001323289.2(CDKL5):c.1948G>A (p.Gly650Arg) rs1602289171
NM_001323289.2(CDKL5):c.194G>C (p.Arg65Pro) rs267608436
NM_001323289.2(CDKL5):c.1952A>G (p.Glu651Gly)
NM_001323289.2(CDKL5):c.1954C>T (p.Gln652Ter) rs267608647
NM_001323289.2(CDKL5):c.1961C>T (p.Pro654Leu)
NM_001323289.2(CDKL5):c.1969A>G (p.Met657Val)
NM_001323289.2(CDKL5):c.1976_1977del (p.Val659fs) rs2147164191
NM_001323289.2(CDKL5):c.1980A>G (p.Ala660=)
NM_001323289.2(CDKL5):c.1982G>T (p.Arg661Ile)
NM_001323289.2(CDKL5):c.1988C>T (p.Ser663Leu)
NM_001323289.2(CDKL5):c.1989G>A (p.Ser663=) rs1156694391
NM_001323289.2(CDKL5):c.1994_1997del (p.Lys665fs)
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe) rs267608437
NM_001323289.2(CDKL5):c.2009_2012dup (p.Thr672fs)
NM_001323289.2(CDKL5):c.200_201del (p.Leu67fs) rs1555949011
NM_001323289.2(CDKL5):c.2013C>T (p.Gly671=) rs1602289218
NM_001323289.2(CDKL5):c.2016C>T (p.Thr672=)
NM_001323289.2(CDKL5):c.2016del (p.Ser673fs) rs267608648
NM_001323289.2(CDKL5):c.2016dup (p.Ser673fs) rs267608648
NM_001323289.2(CDKL5):c.2022del (p.Phe675fs) rs1060501860
NM_001323289.2(CDKL5):c.2026del (p.His676fs) rs1926450614
NM_001323289.2(CDKL5):c.2027A>G (p.His676Arg)
NM_001323289.2(CDKL5):c.2032C>T (p.Arg678Cys)
NM_001323289.2(CDKL5):c.2034C>T (p.Arg678=)
NM_001323289.2(CDKL5):c.2037G>A (p.Gln679=)
NM_001323289.2(CDKL5):c.2040G>A (p.Lys680=) rs761995288
NM_001323289.2(CDKL5):c.2046+10A>G
NM_001323289.2(CDKL5):c.2046+11A>G rs111749777
NM_001323289.2(CDKL5):c.2046+19T>C
NM_001323289.2(CDKL5):c.2046+1G>A rs786204976
NM_001323289.2(CDKL5):c.2047-15T>A
NM_001323289.2(CDKL5):c.2047-1G>A rs267608650
NM_001323289.2(CDKL5):c.2047-2A>C rs1926471092
NM_001323289.2(CDKL5):c.2047-5C>T
NM_001323289.2(CDKL5):c.2048G>A (p.Gly683Asp)
NM_001323289.2(CDKL5):c.2053G>A (p.Val685Met)
NM_001323289.2(CDKL5):c.2057A>T (p.Tyr686Phe) rs2047709269
NM_001323289.2(CDKL5):c.2061T>C (p.His687=)
NM_001323289.2(CDKL5):c.2066C>T (p.Pro689Leu) rs1326292288
NM_001323289.2(CDKL5):c.2066del (p.Pro689fs) rs267608651
NM_001323289.2(CDKL5):c.206A>C (p.Gln69Pro)
NM_001323289.2(CDKL5):c.2070C>G (p.His690Gln) rs2147164673
NM_001323289.2(CDKL5):c.2072_2073del (p.His690_Ser691insTer) rs2147164676
NM_001323289.2(CDKL5):c.2074G>A (p.Asp692Asn) rs2147164679
NM_001323289.2(CDKL5):c.207_213del (p.Glu70fs) rs786204977
NM_001323289.2(CDKL5):c.2083A>G (p.Thr695Ala)
NM_001323289.2(CDKL5):c.2085A>G (p.Thr695=) rs2147164693
NM_001323289.2(CDKL5):c.2089C>G (p.Pro697Ala)
NM_001323289.2(CDKL5):c.2091del (p.Glu699fs)
NM_001323289.2(CDKL5):c.2099A>G (p.Asn700Ser)
NM_001323289.2(CDKL5):c.2103A>G (p.Arg701=)
NM_001323289.2(CDKL5):c.2105_2106del (p.His702fs) rs786204978
NM_001323289.2(CDKL5):c.2106C>T (p.His702=) rs1057520416
NM_001323289.2(CDKL5):c.2111A>G (p.Tyr704Cys)
NM_001323289.2(CDKL5):c.2120C>G (p.Pro707Arg)
NM_001323289.2(CDKL5):c.2121T>C (p.Pro707=)
NM_001323289.2(CDKL5):c.2129G>A (p.Arg710Lys)
NM_001323289.2(CDKL5):c.212A>G (p.Asn71Ser) rs1925264314
NM_001323289.2(CDKL5):c.2135T>C (p.Val712Ala) rs1926475375
NM_001323289.2(CDKL5):c.213C>G (p.Asn71Lys) rs1602269367
NM_001323289.2(CDKL5):c.2142del (p.Tyr716fs) rs1569220925
NM_001323289.2(CDKL5):c.2151A>G (p.Arg717=) rs886043453
NM_001323289.2(CDKL5):c.2152+10C>T rs763466606
NM_001323289.2(CDKL5):c.2152+16G>A
NM_001323289.2(CDKL5):c.2152+18A>G
NM_001323289.2(CDKL5):c.2152+1G>C
NM_001323289.2(CDKL5):c.2152+1G>T
NM_001323289.2(CDKL5):c.2152+2T>G
NM_001323289.2(CDKL5):c.2152+5G>T rs1926476615
NM_001323289.2(CDKL5):c.2152+9A>T
NM_001323289.2(CDKL5):c.2152G>A (p.Val718Met) rs267608653
NM_001323289.2(CDKL5):c.2153-10C>A
NM_001323289.2(CDKL5):c.2153-10C>G
NM_001323289.2(CDKL5):c.2153-16C>A
NM_001323289.2(CDKL5):c.2153-17A>C
NM_001323289.2(CDKL5):c.2153-18T>G
NM_001323289.2(CDKL5):c.2153-20C>A
NM_001323289.2(CDKL5):c.2153-64_2153-5delinsG rs1926607521
NM_001323289.2(CDKL5):c.2157A>G (p.Pro719=)
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr) rs62641235
NM_001323289.2(CDKL5):c.2164C>T (p.Arg722Cys)
NM_001323289.2(CDKL5):c.2167C>T (p.Pro723Ser) rs2147167531
NM_001323289.2(CDKL5):c.216T>G (p.Ile72Met)
NM_001323289.2(CDKL5):c.2171A>G (p.Asp724Gly)
NM_001323289.2(CDKL5):c.2171A>T (p.Asp724Val) rs1926616572
NM_001323289.2(CDKL5):c.217G>A (p.Val73Met) rs2147139605
NM_001323289.2(CDKL5):c.2180T>C (p.Phe727Ser)
NM_001323289.2(CDKL5):c.2182del (p.His728fs) rs1926616715
NM_001323289.2(CDKL5):c.2193T>C (p.Asn731=)
NM_001323289.2(CDKL5):c.2195T>A (p.Val732Glu) rs1926617510
NM_001323289.2(CDKL5):c.2197_2204dup (p.Arg735fs) rs1926617807
NM_001323289.2(CDKL5):c.21T>C (p.Gly7=) rs1922604912
NM_001323289.2(CDKL5):c.2201_2204dup (p.Arg735delinsSerTer) rs2147167570
NM_001323289.2(CDKL5):c.2213_2215del (p.Ser738del) rs1926618813
NM_001323289.2(CDKL5):c.2215C>T (p.Leu739=) rs747554139
NM_001323289.2(CDKL5):c.2217A>G (p.Leu739=) rs1602292116
NM_001323289.2(CDKL5):c.2218C>G (p.Pro740Ala)
NM_001323289.2(CDKL5):c.2219C>T (p.Pro740Leu) rs2147167595
NM_001323289.2(CDKL5):c.2227_2228del (p.Ser743fs) rs2147167604
NM_001323289.2(CDKL5):c.222G>A (p.Glu74=)
NM_001323289.2(CDKL5):c.2236G>A (p.Gly746Arg) rs1926619731
NM_001323289.2(CDKL5):c.2243A>C (p.Asn748Thr) rs748459878
NM_001323289.2(CDKL5):c.2247_2250dup (p.Lys751fs)
NM_001323289.2(CDKL5):c.2255_2259dup (p.Pro754fs)
NM_001323289.2(CDKL5):c.2256_2263del (p.Arg752fs) rs1926620965
NM_001323289.2(CDKL5):c.2268C>T (p.Phe756=)
NM_001323289.2(CDKL5):c.2276+18T>C
NM_001323289.2(CDKL5):c.2276+1G>A rs1602292181
NM_001323289.2(CDKL5):c.2276+1G>T
NM_001323289.2(CDKL5):c.2277-13T>A rs1413641177
NM_001323289.2(CDKL5):c.2277-13T>C
NM_001323289.2(CDKL5):c.2277-2A>G rs786204979
NM_001323289.2(CDKL5):c.2277-8T>C
NM_001323289.2(CDKL5):c.2277G>A (p.Trp759Ter)
NM_001323289.2(CDKL5):c.2296A>T (p.Ser766Cys)
NM_001323289.2(CDKL5):c.229_232del (p.Glu77fs) rs267608441
NM_001323289.2(CDKL5):c.2307_2309dup (p.Gln770dup) rs1555954068
NM_001323289.2(CDKL5):c.2310A>T (p.Gln770His) rs2147172236
NM_001323289.2(CDKL5):c.2319A>G (p.Glu773=)
NM_001323289.2(CDKL5):c.231A>G (p.Glu77=) rs1602269399
NM_001323289.2(CDKL5):c.2325_2326del (p.Lys776fs) rs267608654
NM_001323289.2(CDKL5):c.2325_2326dup (p.Lys776fs)
NM_001323289.2(CDKL5):c.2326_2327del (p.Lys776fs) rs1602295727
NM_001323289.2(CDKL5):c.2332G>A (p.Gly778Arg)
NM_001323289.2(CDKL5):c.2343del (p.Arg781fs) rs62643614
NM_001323289.2(CDKL5):c.2345C>A (p.Ser782Ter) rs1555954074
NM_001323289.2(CDKL5):c.2345C>G (p.Ser782Ter) rs1555954074
NM_001323289.2(CDKL5):c.234A>G (p.Ala78=) rs1288226865
NM_001323289.2(CDKL5):c.2354A>C (p.Lys785Thr)
NM_001323289.2(CDKL5):c.2355_2357del (p.Lys789del)
NM_001323289.2(CDKL5):c.2355_2358del (p.Lys786fs) rs1926837956
NM_001323289.2(CDKL5):c.2359_2363del (p.Lys787fs) rs1555954078
NM_001323289.2(CDKL5):c.2360_2363del (p.Lys787fs) rs587783123
NM_001323289.2(CDKL5):c.2363_2367del (p.Lys788fs) rs267608655
NM_001323289.2(CDKL5):c.236T>C (p.Phe79Ser) rs2147139630
NM_001323289.2(CDKL5):c.2371C>G (p.Gln791Glu)
NM_001323289.2(CDKL5):c.2371C>T (p.Gln791Ter) rs1926838663
NM_001323289.2(CDKL5):c.2374dup (p.Thr792fs) rs1602295779
NM_001323289.2(CDKL5):c.2375C>G (p.Thr792Arg)
NM_001323289.2(CDKL5):c.2376+11G>T
NM_001323289.2(CDKL5):c.2376+18T>A
NM_001323289.2(CDKL5):c.2376+1G>A rs267608656
NM_001323289.2(CDKL5):c.2376+1G>C rs267608656
NM_001323289.2(CDKL5):c.2376+2T>A
NM_001323289.2(CDKL5):c.2376+4dup rs34335533
NM_001323289.2(CDKL5):c.2376+9A>G
NM_001323289.2(CDKL5):c.2377-18G>C
NM_001323289.2(CDKL5):c.2377-4C>G
NM_001323289.2(CDKL5):c.2384A>C (p.Asn795Thr) rs863225067
NM_001323289.2(CDKL5):c.2387C>G (p.Ser796Cys)
NM_001323289.2(CDKL5):c.2389G>C (p.Asp797His) rs140313320
NM_001323289.2(CDKL5):c.2393G>A (p.Ser798Asn)
NM_001323289.2(CDKL5):c.2398del (p.Asp800fs)
NM_001323289.2(CDKL5):c.239G>A (p.Arg80His) rs776025230
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_001323289.2(CDKL5):c.241C>G (p.Arg81Gly) rs1925266779
NM_001323289.2(CDKL5):c.2422A>G (p.Ile808Val)
NM_001323289.2(CDKL5):c.2426A>G (p.His809Arg) rs1602298609
NM_001323289.2(CDKL5):c.2437A>G (p.Thr813Ala) rs1927002061
NM_001323289.2(CDKL5):c.244del (p.Arg82fs) rs1555949041
NM_001323289.2(CDKL5):c.2452_2459del (p.Pro818fs) rs1555954737
NM_001323289.2(CDKL5):c.2463del (p.Trp821fs) rs2147175902
NM_001323289.2(CDKL5):c.2464del (p.Arg822fs)
NM_001323289.2(CDKL5):c.2466C>T (p.Arg822=)
NM_001323289.2(CDKL5):c.2479T>C (p.Ser827Pro)
NM_001323289.2(CDKL5):c.2480C>G (p.Ser827Ter) rs1602298653
NM_001323289.2(CDKL5):c.2480_2486dup (p.Gln830fs) rs1555954752
NM_001323289.2(CDKL5):c.2485C>G (p.Leu829Val)
NM_001323289.2(CDKL5):c.2487G>C (p.Leu829=)
NM_001323289.2(CDKL5):c.248G>T (p.Gly83Val) rs587783402
NM_001323289.2(CDKL5):c.2493C>T (p.Thr831=) rs1555954758
NM_001323289.2(CDKL5):c.2494C>T (p.Gln832Ter) rs17857094
NM_001323289.2(CDKL5):c.2496+16A>G
NM_001323289.2(CDKL5):c.2496+18C>G
NM_001323289.2(CDKL5):c.2497-3C>T
NM_001323289.2(CDKL5):c.2497-6_2497-3del rs2147178840
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_001323289.2(CDKL5):c.2504del (p.Pro835fs) rs267608660
NM_001323289.2(CDKL5):c.2505A>G (p.Pro835=) rs2147178868
NM_001323289.2(CDKL5):c.2529del (p.Leu843fs) rs267608661
NM_001323289.2(CDKL5):c.2529dup (p.His844fs)
NM_001323289.2(CDKL5):c.2530C>A (p.His844Asn)
NM_001323289.2(CDKL5):c.2530del (p.His844fs)
NM_001323289.2(CDKL5):c.2545T>G (p.Ser849Ala)
NM_001323289.2(CDKL5):c.2548A>G (p.Asn850Asp)
NM_001323289.2(CDKL5):c.2551C>A (p.His851Asn)
NM_001323289.2(CDKL5):c.2555C>G (p.Pro852Arg) rs587783156
NM_001323289.2(CDKL5):c.256T>G (p.Tyr86Asp) rs2147139669
NM_001323289.2(CDKL5):c.2570C>G (p.Pro857Arg)
NM_001323289.2(CDKL5):c.2572del (p.Arg858fs) rs267608662
NM_001323289.2(CDKL5):c.2578C>T (p.Gln860Ter) rs1927139054
NM_001323289.2(CDKL5):c.2579_2582dup (p.Leu862fs) rs2147178955
NM_001323289.2(CDKL5):c.258C>A (p.Tyr86Ter)
NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter) rs267608663
NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter) rs587783158
NM_001323289.2(CDKL5):c.259T>G (p.Leu87Val) rs2147139674
NM_001323289.2(CDKL5):c.2606del (p.Asn869fs) rs2147178971
NM_001323289.2(CDKL5):c.2611T>G (p.Phe871Val) rs2147178975
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.2636del (p.Leu879fs) rs2147179000
NM_001323289.2(CDKL5):c.2641C>T (p.Gln881Ter) rs1057519541
NM_001323289.2(CDKL5):c.2655G>A (p.Gly885=)
NM_001323289.2(CDKL5):c.2666T>G (p.Ile889Ser)
NM_001323289.2(CDKL5):c.2668C>A (p.Arg890=) rs1354788122
NM_001323289.2(CDKL5):c.2668C>T (p.Arg890Trp)
NM_001323289.2(CDKL5):c.2668del (p.Arg890fs)
NM_001323289.2(CDKL5):c.2673_2682del (p.Gln891fs) rs1927142990
NM_001323289.2(CDKL5):c.2677C>T (p.Pro893Ser)
NM_001323289.2(CDKL5):c.2679C>T (p.Pro893=) rs777919249
NM_001323289.2(CDKL5):c.2680G>C (p.Ala894Pro) rs763110247
NM_001323289.2(CDKL5):c.2680G>T (p.Ala894Ser)
NM_001323289.2(CDKL5):c.2682_2683insGGAA (p.Pro895fs) rs1569225454
NM_001323289.2(CDKL5):c.2682dup (p.Pro895fs) rs1569225454
NM_001323289.2(CDKL5):c.2683C>A (p.Pro895Thr)
NM_001323289.2(CDKL5):c.2685G>A (p.Pro895=)
NM_001323289.2(CDKL5):c.2693_2694del (p.Arg898fs) rs2147179071
NM_001323289.2(CDKL5):c.2695C>G (p.Pro899Ala)
NM_001323289.2(CDKL5):c.26T>C (p.Val9Ala) rs1569197962
NM_001323289.2(CDKL5):c.2704C>A (p.Gln902Lys)
NM_001323289.2(CDKL5):c.2706G>C (p.Gln902His)
NM_001323289.2(CDKL5):c.2706G>T (p.Gln902His)
NM_001323289.2(CDKL5):c.2711C>T (p.Pro904Leu)
NM_001323289.2(CDKL5):c.2713G>A (p.Gly905Ser)
NM_001323289.2(CDKL5):c.2716C>T (p.Gln906Ter) rs863225289
NM_001323289.2(CDKL5):c.273T>C (p.Tyr91=)
NM_001323289.2(CDKL5):c.274G>C (p.Val92Leu) rs2147139679
NM_001323289.2(CDKL5):c.275_276insAA (p.Glu93fs) rs786204982
NM_001323289.2(CDKL5):c.2785C>T (p.Gln929Ter) rs1602300816
NM_001323289.2(CDKL5):c.280A>T (p.Lys94Ter) rs2147139684
NM_001323289.2(CDKL5):c.282+15G>A
NM_001323289.2(CDKL5):c.282+16C>A rs1456184121
NM_001323289.2(CDKL5):c.282+18A>G
NM_001323289.2(CDKL5):c.282+1G>A rs1569213054
NM_001323289.2(CDKL5):c.282+1G>T rs1569213054
NM_001323289.2(CDKL5):c.282+3A>G
NM_001323289.2(CDKL5):c.282+5G>A rs1925269123
NM_001323289.2(CDKL5):c.282+5G>C
NM_001323289.2(CDKL5):c.2821del (p.Tyr941fs) rs1602300837
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs) rs1555955290
NM_001323289.2(CDKL5):c.283-11T>G
NM_001323289.2(CDKL5):c.283-12_283-9del rs754433548
NM_001323289.2(CDKL5):c.283-15C>G
NM_001323289.2(CDKL5):c.283-15_283-14del
NM_001323289.2(CDKL5):c.283-18A>T
NM_001323289.2(CDKL5):c.283-3_290del rs786204983
NM_001323289.2(CDKL5):c.283-8A>G
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter) rs1555955296
NM_001323289.2(CDKL5):c.2883A>T (p.Ter961Tyr)
NM_001323289.2(CDKL5):c.290T>C (p.Leu97Pro) rs1925418549
NM_001323289.2(CDKL5):c.291C>G (p.Leu97=) rs138125282
NM_001323289.2(CDKL5):c.295T>C (p.Leu99=) rs2147142589
NM_001323289.2(CDKL5):c.301G>T (p.Glu101Ter)
NM_001323289.2(CDKL5):c.308del (p.Met103fs) rs2147142599
NM_001323289.2(CDKL5):c.317G>A (p.Gly106Glu)
NM_001323289.2(CDKL5):c.327T>A (p.Pro109=)
NM_001323289.2(CDKL5):c.349_352del (p.Tyr117fs) rs2147142645
NM_001323289.2(CDKL5):c.349dup (p.Tyr117fs) rs1925420814
NM_001323289.2(CDKL5):c.350dup (p.Tyr117Ter)
NM_001323289.2(CDKL5):c.351T>G (p.Tyr117Ter)
NM_001323289.2(CDKL5):c.353A>G (p.Gln118Arg) rs863225290
NM_001323289.2(CDKL5):c.354_361del (p.Leu119fs) rs1925421198
NM_001323289.2(CDKL5):c.362A>G (p.Lys121Arg) rs2147142685
NM_001323289.2(CDKL5):c.364G>A (p.Ala122Thr) rs1602271692
NM_001323289.2(CDKL5):c.372_385del (p.His124fs)
NM_001323289.2(CDKL5):c.376T>G (p.Cys126Gly)
NM_001323289.2(CDKL5):c.377G>C (p.Cys126Ser) rs1925423604
NM_001323289.2(CDKL5):c.378C>G (p.Cys126Trp) rs1569213910
NM_001323289.2(CDKL5):c.379C>G (p.His127Asp) rs1925423909
NM_001323289.2(CDKL5):c.379C>T (p.His127Tyr)
NM_001323289.2(CDKL5):c.37T>A (p.Phe13Ile) rs2147092100
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_001323289.2(CDKL5):c.386del (p.Asn129fs) rs1602271718
NM_001323289.2(CDKL5):c.388_390del (p.Asp130del)
NM_001323289.2(CDKL5):c.38T>C (p.Phe13Ser) rs1922605766
NM_001323289.2(CDKL5):c.394G>T (p.Val132Phe) rs1569213917
NM_001323289.2(CDKL5):c.396C>T (p.Val132=) rs1602271730
NM_001323289.2(CDKL5):c.397C>T (p.His133Tyr)
NM_001323289.2(CDKL5):c.398A>C (p.His133Pro) rs1925424843
NM_001323289.2(CDKL5):c.39del (p.Phe13fs) rs267608415
NM_001323289.2(CDKL5):c.400C>T (p.Arg134Ter) rs267608472
NM_001323289.2(CDKL5):c.401G>C (p.Arg134Pro)
NM_001323289.2(CDKL5):c.403+1G>A rs786204984
NM_001323289.2(CDKL5):c.403+540_554+61del
NM_001323289.2(CDKL5):c.404-15dup
NM_001323289.2(CDKL5):c.404-16T>A
NM_001323289.2(CDKL5):c.404-1G>A rs267608474
NM_001323289.2(CDKL5):c.404-1G>C
NM_001323289.2(CDKL5):c.404-1G>T rs267608474
NM_001323289.2(CDKL5):c.404-2A>G rs587783080
NM_001323289.2(CDKL5):c.404-2_412del rs2147143992
NM_001323289.2(CDKL5):c.404-6C>G
NM_001323289.2(CDKL5):c.404A>T (p.Asp135Val) rs1569214316
NM_001323289.2(CDKL5):c.407T>G (p.Ile136Arg)
NM_001323289.2(CDKL5):c.408A>G (p.Ile136Met) rs1310022305
NM_001323289.2(CDKL5):c.409A>G (p.Lys137Glu) rs1569214324
NM_001323289.2(CDKL5):c.412C>G (p.Pro138Ala) rs1925492354
NM_001323289.2(CDKL5):c.415G>A (p.Glu139Lys)
NM_001323289.2(CDKL5):c.416A>C (p.Glu139Ala)
NM_001323289.2(CDKL5):c.420T>A (p.Asn140Lys) rs1925492808
NM_001323289.2(CDKL5):c.422T>C (p.Leu141Pro) rs1925493091
NM_001323289.2(CDKL5):c.424T>G (p.Leu142Val) rs1925493252
NM_001323289.2(CDKL5):c.425T>A (p.Leu142Ter) rs267608477
NM_001323289.2(CDKL5):c.425T>G (p.Leu142Ter) rs267608477
NM_001323289.2(CDKL5):c.436A>C (p.Asn146His) rs2147144038
NM_001323289.2(CDKL5):c.436A>G (p.Asn146Asp) rs2147144038
NM_001323289.2(CDKL5):c.440A>T (p.Asp147Val)
NM_001323289.2(CDKL5):c.450del (p.Lys150fs) rs2147144049
NM_001323289.2(CDKL5):c.453del (p.Cys152fs) rs1555949763
NM_001323289.2(CDKL5):c.454T>C (p.Cys152Arg) rs1602272932
NM_001323289.2(CDKL5):c.455G>A (p.Cys152Tyr) rs122460157
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe) rs122460157
NM_001323289.2(CDKL5):c.456_457del (p.Cys152_Asp153delinsTer)
NM_001323289.2(CDKL5):c.458A>G (p.Asp153Gly) rs786204985
NM_001323289.2(CDKL5):c.460T>C (p.Phe154Leu) rs2147144071
NM_001323289.2(CDKL5):c.462T>C (p.Phe154=) rs898874642
NM_001323289.2(CDKL5):c.463+16A>G
NM_001323289.2(CDKL5):c.463+1G>A rs267608479
NM_001323289.2(CDKL5):c.463+1G>T rs267608479
NM_001323289.2(CDKL5):c.463+5G>A rs886042303
NM_001323289.2(CDKL5):c.463G>A (p.Gly155Ser)
NM_001323289.2(CDKL5):c.464-1G>C rs786204986
NM_001323289.2(CDKL5):c.464-2A>C rs267608480
NM_001323289.2(CDKL5):c.464-2A>G rs267608480
NM_001323289.2(CDKL5):c.464-3C>G
NM_001323289.2(CDKL5):c.469G>C (p.Ala157Pro) rs2147145500
NM_001323289.2(CDKL5):c.46C>G (p.Leu16Val)
NM_001323289.2(CDKL5):c.46del (p.Val18fs)
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val) rs863225066
NM_001323289.2(CDKL5):c.473G>C (p.Arg158Pro) rs757402424
NM_001323289.2(CDKL5):c.480G>C (p.Leu160=) rs750878642
NM_001323289.2(CDKL5):c.480G>T (p.Leu160=) rs750878642
NM_001323289.2(CDKL5):c.495dup (p.Ala166fs) rs1925573011
NM_001323289.2(CDKL5):c.503dup (p.Tyr168Ter)
NM_001323289.2(CDKL5):c.506_507del (p.Thr169fs) rs786204987
NM_001323289.2(CDKL5):c.507A>C (p.Thr169=)
NM_001323289.2(CDKL5):c.507dup (p.Glu170fs)
NM_001323289.2(CDKL5):c.508G>T (p.Glu170Ter) rs1555950066
NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter) rs267608490
NM_001323289.2(CDKL5):c.513C>G (p.Tyr171Ter) rs267608490
NM_001323289.2(CDKL5):c.514G>A (p.Val172Ile) rs797044858
NM_001323289.2(CDKL5):c.515T>G (p.Val172Gly)
NM_001323289.2(CDKL5):c.51G>A (p.Gly17=)
NM_001323289.2(CDKL5):c.523A>G (p.Arg175Gly) rs1925574557
NM_001323289.2(CDKL5):c.524G>A (p.Arg175Lys)
NM_001323289.2(CDKL5):c.524G>C (p.Arg175Thr) rs1064794734
NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser) rs61749700
NM_001323289.2(CDKL5):c.526T>C (p.Trp176Arg) rs587783084
NM_001323289.2(CDKL5):c.526T>G (p.Trp176Gly) rs587783084
NM_001323289.2(CDKL5):c.527G>A (p.Trp176Ter) rs2147145565
NM_001323289.2(CDKL5):c.528G>T (p.Trp176Cys) rs786204989
NM_001323289.2(CDKL5):c.529T>C (p.Tyr177His)
NM_001323289.2(CDKL5):c.52dup (p.Val18fs)
NM_001323289.2(CDKL5):c.530A>G (p.Tyr177Cys) rs2147145573
NM_001323289.2(CDKL5):c.530_535del (p.Tyr177_Arg178del)
NM_001323289.2(CDKL5):c.532C>A (p.Arg178=)
NM_001323289.2(CDKL5):c.532C>G (p.Arg178Gly) rs267608493
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
NM_001323289.2(CDKL5):c.533G>C (p.Arg178Pro) rs267606715
NM_001323289.2(CDKL5):c.533G>T (p.Arg178Leu)
NM_001323289.2(CDKL5):c.533_536dup (p.Pro180fs)
NM_001323289.2(CDKL5):c.539C>T (p.Pro180Leu) rs61749704
NM_001323289.2(CDKL5):c.53T>A (p.Val18Asp) rs1602230515
NM_001323289.2(CDKL5):c.544C>T (p.Leu182Phe)
NM_001323289.2(CDKL5):c.546C>T (p.Leu182=)
NM_001323289.2(CDKL5):c.549_552del (p.Leu184fs) rs587783111
NM_001323289.2(CDKL5):c.549dup (p.Leu184fs) rs267608497
NM_001323289.2(CDKL5):c.554+17A>G
NM_001323289.2(CDKL5):c.554+1G>A rs1555950083
NM_001323289.2(CDKL5):c.554+2T>C
NM_001323289.2(CDKL5):c.554+4A>G rs2147145614
NM_001323289.2(CDKL5):c.554+5G>A rs1925577525
NM_001323289.2(CDKL5):c.554+7_554+12del
NM_001323289.2(CDKL5):c.555-17C>T
NM_001323289.2(CDKL5):c.555-19C>A
NM_001323289.2(CDKL5):c.555-19C>T
NM_001323289.2(CDKL5):c.555-9A>G
NM_001323289.2(CDKL5):c.573C>G (p.Ser191=) rs786204958
NM_001323289.2(CDKL5):c.573C>T (p.Ser191=)
NM_001323289.2(CDKL5):c.574G>A (p.Val192Met) rs998686458
NM_001323289.2(CDKL5):c.578A>C (p.Asp193Ala) rs267608500
NM_001323289.2(CDKL5):c.578A>G (p.Asp193Gly) rs267608500
NM_001323289.2(CDKL5):c.578A>T (p.Asp193Val)
NM_001323289.2(CDKL5):c.583T>G (p.Trp195Gly) rs1569215594
NM_001323289.2(CDKL5):c.585G>A (p.Trp195Ter) rs2147147996
NM_001323289.2(CDKL5):c.585G>T (p.Trp195Cys)
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001323289.2(CDKL5):c.588G>A (p.Ser196=)
NM_001323289.2(CDKL5):c.58G>A (p.Gly20Ser) rs267608418
NM_001323289.2(CDKL5):c.58G>C (p.Gly20Arg) rs267608418
NM_001323289.2(CDKL5):c.593G>A (p.Gly198Asp) rs1925696959
NM_001323289.2(CDKL5):c.595T>C (p.Cys199Arg)
NM_001323289.2(CDKL5):c.599T>A (p.Ile200Asn) rs2147148013
NM_001323289.2(CDKL5):c.59G>A (p.Gly20Asp) rs786204962
NM_001323289.2(CDKL5):c.59G>T (p.Gly20Val) rs786204962
NM_001323289.2(CDKL5):c.601_603del (p.Leu201del) rs2147148016
NM_001323289.2(CDKL5):c.601del (p.Glu203fs) rs1925697105
NM_001323289.2(CDKL5):c.602T>C (p.Leu201Pro) rs587783087
NM_001323289.2(CDKL5):c.604G>T (p.Gly202Trp) rs2147148032
NM_001323289.2(CDKL5):c.605G>A (p.Gly202Glu)
NM_001323289.2(CDKL5):c.608A>G (p.Glu203Gly) rs1925697823
NM_001323289.2(CDKL5):c.609G>C (p.Glu203Asp)
NM_001323289.2(CDKL5):c.614_617dup (p.Asp206fs) rs1555950465
NM_001323289.2(CDKL5):c.615C>T (p.Ser205=)
NM_001323289.2(CDKL5):c.616G>T (p.Asp206Tyr) rs1555950468
NM_001323289.2(CDKL5):c.61G>A (p.Glu21Lys)
NM_001323289.2(CDKL5):c.620G>T (p.Gly207Val) rs2147148055
NM_001323289.2(CDKL5):c.621A>T (p.Gly207=)
NM_001323289.2(CDKL5):c.622C>T (p.Gln208Ter) rs587783405
NM_001323289.2(CDKL5):c.625C>A (p.Pro209Thr)
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly) rs587783406
NM_001323289.2(CDKL5):c.630_631del (p.Leu210fs)
NM_001323289.2(CDKL5):c.637G>A (p.Gly213Arg) rs2147148092
NM_001323289.2(CDKL5):c.638G>A (p.Gly213Glu) rs1569215629
NM_001323289.2(CDKL5):c.64+14T>C
NM_001323289.2(CDKL5):c.64+18C>T
NM_001323289.2(CDKL5):c.64+1G>C rs1922607301
NM_001323289.2(CDKL5):c.64+2T>G
NM_001323289.2(CDKL5):c.64+2del rs267608419
NM_001323289.2(CDKL5):c.64+3A>G
NM_001323289.2(CDKL5):c.64+4A>G
NM_001323289.2(CDKL5):c.64G>A (p.Gly22Arg) rs1922607139
NM_001323289.2(CDKL5):c.65-7A>C
NM_001323289.2(CDKL5):c.655C>T (p.Gln219Ter)
NM_001323289.2(CDKL5):c.656A>G (p.Gln219Arg)
NM_001323289.2(CDKL5):c.658del (p.Leu220fs)
NM_001323289.2(CDKL5):c.659T>C (p.Leu220Pro) rs267608511
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu) rs1602232972
NM_001323289.2(CDKL5):c.65G>C (p.Gly22Ala) rs1602232972
NM_001323289.2(CDKL5):c.660T>C (p.Leu220=)
NM_001323289.2(CDKL5):c.665del (p.Thr222fs)
NM_001323289.2(CDKL5):c.670C>T (p.Gln224Ter) rs1925701271
NM_001323289.2(CDKL5):c.678G>A (p.Val226=)
NM_001323289.2(CDKL5):c.678G>T (p.Val226=)
NM_001323289.2(CDKL5):c.679_691delinsGATCGTGGAA (p.Leu227_Pro231delinsAspArgGlyThr) rs869312851
NM_001323289.2(CDKL5):c.680T>C (p.Leu227Pro) rs267608515
NM_001323289.2(CDKL5):c.680T>G (p.Leu227Arg) rs267608515
NM_001323289.2(CDKL5):c.692del (p.Pro231fs)
NM_001323289.2(CDKL5):c.712_713dup (p.Tyr239fs)
NM_001323289.2(CDKL5):c.719G>T (p.Ser240Ile)
NM_001323289.2(CDKL5):c.71A>G (p.Tyr24Cys) rs1922801133
NM_001323289.2(CDKL5):c.725del (p.Pro242fs) rs1555950494
NM_001323289.2(CDKL5):c.728G>A (p.Arg243His)
NM_001323289.2(CDKL5):c.735T>C (p.His245=)
NM_001323289.2(CDKL5):c.743G>T (p.Arg248Leu) rs1064795857
NM_001323289.2(CDKL5):c.744+1G>A rs1925705674
NM_001323289.2(CDKL5):c.745-15G>A rs2147153513
NM_001323289.2(CDKL5):c.745-1G>T rs2147153521
NM_001323289.2(CDKL5):c.745-20C>A
NM_001323289.2(CDKL5):c.745-3007_825+774del
NM_001323289.2(CDKL5):c.745-3C>G rs2147153520
NM_001323289.2(CDKL5):c.745-3C>T
NM_001323289.2(CDKL5):c.747dup (p.Pro250fs) rs875989880
NM_001323289.2(CDKL5):c.749del (p.Pro250fs) rs2147153531
NM_001323289.2(CDKL5):c.74G>T (p.Gly25Val)
NM_001323289.2(CDKL5):c.751delinsTC (p.Ala251fs) rs1555951141
NM_001323289.2(CDKL5):c.758del (p.Asn253fs)
NM_001323289.2(CDKL5):c.767A>G (p.Gln256Arg)
NM_001323289.2(CDKL5):c.781dup (p.Arg261fs)
NM_001323289.2(CDKL5):c.783A>G (p.Arg261=) rs1925958381
NM_001323289.2(CDKL5):c.786C>A (p.Tyr262Ter) rs1555951146
NM_001323289.2(CDKL5):c.794T>C (p.Ile265Thr) rs1925958833
NM_001323289.2(CDKL5):c.79G>T (p.Val27Leu)
NM_001323289.2(CDKL5):c.800A>G (p.Asn267Ser) rs794726990
NM_001323289.2(CDKL5):c.801_802del (p.Asn267fs) rs267608528
NM_001323289.2(CDKL5):c.803G>A (p.Ser268Asn) rs1925959502
NM_001323289.2(CDKL5):c.80T>C (p.Val27Ala)
NM_001323289.2(CDKL5):c.810A>G (p.Leu270=) rs2147153595
NM_001323289.2(CDKL5):c.812T>C (p.Leu271Pro)
NM_001323289.2(CDKL5):c.818T>C (p.Leu273Pro) rs1569217205
NM_001323289.2(CDKL5):c.825+10A>G
NM_001323289.2(CDKL5):c.825+1G>C
NM_001323289.2(CDKL5):c.825+1dup rs1602280455
NM_001323289.2(CDKL5):c.825+5G>A rs1555951149
NM_001323289.2(CDKL5):c.825+7C>T
NM_001323289.2(CDKL5):c.825+9A>G rs2147153613
NM_001323289.2(CDKL5):c.826-14_835del
NM_001323289.2(CDKL5):c.826-1G>A rs587783149
NM_001323289.2(CDKL5):c.826-2A>G rs1060501859
NM_001323289.2(CDKL5):c.827A>G (p.Asn276Ser)
NM_001323289.2(CDKL5):c.830T>C (p.Leu277Ser) rs2147156094
NM_001323289.2(CDKL5):c.844_855del (p.Pro282_Arg285del) rs2147156103
NM_001323289.2(CDKL5):c.844_856delinsA (p.Pro282_Tyr286delinsAsn) rs2147156107
NM_001323289.2(CDKL5):c.853A>G (p.Arg285Gly) rs1926078505
NM_001323289.2(CDKL5):c.854G>A (p.Arg285Lys) rs1064795672
NM_001323289.2(CDKL5):c.855A>C (p.Arg285Ser) rs267608532
NM_001323289.2(CDKL5):c.856T>A (p.Tyr286Asn) rs2147156130
NM_001323289.2(CDKL5):c.863C>G (p.Thr288Arg)
NM_001323289.2(CDKL5):c.863C>T (p.Thr288Ile) rs267606713
NM_001323289.2(CDKL5):c.867dup (p.Gln290fs) rs267608537
NM_001323289.2(CDKL5):c.868C>T (p.Gln290Ter) rs1569218019
NM_001323289.2(CDKL5):c.86A>C (p.Lys29Thr)
NM_001323289.2(CDKL5):c.871T>C (p.Cys291Arg) rs1131691376
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_001323289.2(CDKL5):c.873T>G (p.Cys291Trp)
NM_001323289.2(CDKL5):c.877_881dup (p.His294fs) rs1926080344
NM_001323289.2(CDKL5):c.878dup (p.Asn293fs) rs1926080187
NM_001323289.2(CDKL5):c.884del (p.Pro295fs) rs267608542
NM_001323289.2(CDKL5):c.887C>A (p.Thr296Lys)
NM_001323289.2(CDKL5):c.898_899del (p.Gln300fs) rs1602282699
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_001323289.2(CDKL5):c.902_903dup (p.Leu302fs) rs267608546
NM_001323289.2(CDKL5):c.906del (p.Leu303fs) rs2147156191
NM_001323289.2(CDKL5):c.907C>T (p.Leu303=)
NM_001323289.2(CDKL5):c.914G>A (p.Arg305His)
NM_001323289.2(CDKL5):c.915T>G (p.Arg305=) rs1170498240
NM_001323289.2(CDKL5):c.918T>C (p.Ser306=)
NM_001323289.2(CDKL5):c.91A>G (p.Arg31Gly) rs786204991
NM_001323289.2(CDKL5):c.934A>G (p.Lys312Glu) rs1569218064
NM_001323289.2(CDKL5):c.934A>T (p.Lys312Ter)
NM_001323289.2(CDKL5):c.951T>A (p.His317Gln)
NM_001323289.2(CDKL5):c.964dup (p.Thr322fs) rs267608552
NM_001323289.2(CDKL5):c.968T>A (p.Leu323Ter)
NM_001323289.2(CDKL5):c.969G>A (p.Leu323=) rs587783407
NM_001323289.2(CDKL5):c.977+7A>G rs770011012
NM_001323289.2(CDKL5):c.978-14T>C
NM_001323289.2(CDKL5):c.978-1G>A rs2147160087
NM_001323289.2(CDKL5):c.978-2A>G rs267608553
NM_001323289.2(CDKL5):c.978-3T>C rs2147160073
NM_001323289.2(CDKL5):c.984A>G (p.Gln328=) rs2147160092
NM_001323289.2(CDKL5):c.988G>A (p.Gly330Ser) rs760930296
NM_001323289.2(CDKL5):c.99+1G>C rs267608421
NM_001323289.2(CDKL5):c.99+1G>T rs267608421
NM_001323289.2(CDKL5):c.99+5G>A rs587783131
NM_001323289.2(CDKL5):c.99+9A>C
NM_001323289.2(CDKL5):c.99+9A>G rs1602233003
NM_001323289.2(CDKL5):c.99+9A>T rs1602233003
NM_001323289.2(CDKL5):c.993_994dup (p.Ser332fs) rs2147160115
NM_003159.2(CDKL5):c.(?_-253)_(*85_?)del
NM_003159.2(CDKL5):c.-162-?_145+?del
NM_003159.2(CDKL5):c.-162-?_64+?del
NM_003159.2(CDKL5):c.-162-?_99+?del
NM_003159.2(CDKL5):c.-253_-163+?del
NM_003159.2(CDKL5):c.100-?_145+?del
NM_003159.2(CDKL5):c.464_484del
NM_003159.2(CDKL5):c.65-?_99+?del
NM_003159.2(CDKL5):c.65dupG rs267608420
NM_003159.2(CDKL5):c.745-?_825+?del
Single allele

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