Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.18604049T>A | CA412359574 | CDKL5 | c.1125T>A (p.Ser375Arg) c.1074T>A (p.Ser358Arg) c.993T>A (p.Ser331Arg) n.1377T>A | |
X | g.18604049T>C | CA515627526 | CDKL5 | c.1125T>C (p.Ser375=) c.1074T>C (p.Ser358=) c.993T>C (p.Ser331=) n.1377T>C | |
X | g.18604049T>G | CA412359575 | CDKL5 | c.1125T>G (p.Ser375Arg) c.1074T>G (p.Ser358Arg) c.993T>G (p.Ser331Arg) n.1377T>G | |
X | g.18604050C>A | CA412359579 | CDKL5 | c.1126C>A (p.Leu376Ile) c.1075C>A (p.Leu359Ile) c.994C>A (p.Leu332Ile) n.1378C>A | |
X | g.18604050C>G | CA412359581 | CDKL5 | c.1126C>G (p.Leu376Val) c.1075C>G (p.Leu359Val) c.994C>G (p.Leu332Val) n.1378C>G | |
X | g.18604050C>T | CA412359577 | CDKL5 | c.1126C>T (p.Leu376Phe) c.1075C>T (p.Leu359Phe) c.994C>T (p.Leu332Phe) n.1378C>T | |
X | g.18604051T>A | CA412359585 | CDKL5 | c.1127T>A (p.Leu376His) c.1076T>A (p.Leu359His) c.995T>A (p.Leu332His) n.1379T>A | |
X | g.18604051T>C | CA412359583 | CDKL5 | c.1127T>C (p.Leu376Pro) c.1076T>C (p.Leu359Pro) c.995T>C (p.Leu332Pro) n.1379T>C | |
X | g.18604051T>G | CA412359584 | CDKL5 | c.1127T>G (p.Leu376Arg) c.1076T>G (p.Leu359Arg) c.995T>G (p.Leu332Arg) n.1379T>G | |
X | g.18604052T>A | CA515627532 | CDKL5 | c.1128T>A (p.Leu376=) c.1077T>A (p.Leu359=) c.996T>A (p.Leu332=) n.1380T>A | |
X | g.18604052T>C | CA515627531 | CDKL5 | c.1128T>C (p.Leu376=) c.1077T>C (p.Leu359=) c.996T>C (p.Leu332=) n.1380T>C | |
X | g.18604052T>G | CA515627530 | CDKL5 | c.1128T>G (p.Leu376=) c.1077T>G (p.Leu359=) c.996T>G (p.Leu332=) n.1380T>G | |
X | g.18604053A>C | CA412359588 | CDKL5 | c.1129A>C (p.Ser377Arg) c.1078A>C (p.Ser360Arg) c.997A>C (p.Ser333Arg) n.1381A>C | |
X | g.18604053A>G | CA412359590 | CDKL5 | c.1129A>G (p.Ser377Gly) c.1078A>G (p.Ser360Gly) c.997A>G (p.Ser333Gly) n.1381A>G | |
X | g.18604053A>T | CA412359592 | CDKL5 | c.1129A>T (p.Ser377Cys) c.1078A>T (p.Ser360Cys) c.997A>T (p.Ser333Cys) n.1381A>T | |
X | g.18604054G>A | CA412359594 | CDKL5 | c.1130G>A (p.Ser377Asn) c.1079G>A (p.Ser360Asn) c.998G>A (p.Ser333Asn) n.1382G>A | |
X | g.18604054G>C | CA412359596 | CDKL5 | c.1130G>C (p.Ser377Thr) c.1079G>C (p.Ser360Thr) c.998G>C (p.Ser333Thr) n.1382G>C | |
X | g.18604054G>T | CA412359597 | CDKL5 | c.1130G>T (p.Ser377Ile) c.1079G>T (p.Ser360Ile) c.998G>T (p.Ser333Ile) n.1382G>T | |
X | g.18604055T>A | CA412359599 | CDKL5 | c.1131T>A (p.Ser377Arg) c.1080T>A (p.Ser360Arg) c.999T>A (p.Ser333Arg) n.1383T>A | |
X | g.18604055T>C | CA515627535 | CDKL5 | c.1131T>C (p.Ser377=) c.1080T>C (p.Ser360=) c.999T>C (p.Ser333=) n.1383T>C | |
X | g.18604055T>G | CA412359601 | CDKL5 | c.1131T>G (p.Ser377Arg) c.1080T>G (p.Ser360Arg) c.999T>G (p.Ser333Arg) n.1383T>G | |
X | g.18604056C>A | CA412359603 | CDKL5 | c.1132C>A (p.Pro378Thr) c.1081C>A (p.Pro361Thr) c.1000C>A (p.Pro334Thr) n.1384C>A | |
X | g.18604056C>G | CA412359605 | CDKL5 | c.1132C>G (p.Pro378Ala) c.1081C>G (p.Pro361Ala) c.1000C>G (p.Pro334Ala) n.1384C>G | |
X | g.18604056C>T | CA412359606 | CDKL5 | c.1132C>T (p.Pro378Ser) c.1081C>T (p.Pro361Ser) c.1000C>T (p.Pro334Ser) n.1384C>T | |
X | g.18604057C>A | CA412359613 | CDKL5 | c.1133C>A (p.Pro378Gln) c.1082C>A (p.Pro361Gln) c.1001C>A (p.Pro334Gln) n.1385C>A | |
X | g.18604057C= | CA2417973817 | CDKL5 | c.1133C= (p.Pro378=) c.1082C= (p.Pro361=) c.1001C= (p.Pro334=) n.1385C= | |
X | g.18604057C>G | CA412359609 | CDKL5 | c.1133C>G (p.Pro378Arg) c.1082C>G (p.Pro361Arg) c.1001C>G (p.Pro334Arg) n.1385C>G | |
X | g.18604057C>T | CA412359611 | CDKL5 | c.1133C>T (p.Pro378Leu) c.1082C>T (p.Pro361Leu) c.1001C>T (p.Pro334Leu) n.1385C>T | dbSNP |
X | g.18604058A= | CA2417973818 | CDKL5 | c.1134A= (p.Pro378=) c.1083A= (p.Pro361=) c.1002A= (p.Pro334=) n.1386A= | |
X | g.18604058A>C | CA515627537 | CDKL5 | c.1134A>C (p.Pro378=) c.1083A>C (p.Pro361=) c.1002A>C (p.Pro334=) n.1386A>C | |
X | g.18604058A>G | CA10360356 | CDKL5 | c.1134A>G (p.Pro378=) c.1083A>G (p.Pro361=) c.1002A>G (p.Pro334=) n.1386A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604058A>T | CA515627538 | CDKL5 | c.1134A>T (p.Pro378=) c.1083A>T (p.Pro361=) c.1002A>T (p.Pro334=) n.1386A>T | |
X | g.18604059C>A | CA412359615 | CDKL5 | c.1135C>A (p.Leu379Met) c.1084C>A (p.Leu362Met) c.1003C>A (p.Leu335Met) n.1387C>A | |
X | g.18604059C>G | CA412359617 | CDKL5 | c.1135C>G (p.Leu379Val) c.1084C>G (p.Leu362Val) c.1003C>G (p.Leu335Val) n.1387C>G | |
X | g.18604059C>T | CA515627539 | CDKL5 | c.1135C>T (p.Leu379=) c.1084C>T (p.Leu362=) c.1003C>T (p.Leu335=) n.1387C>T | |
X | g.18604060T>A | CA412359619 | CDKL5 | c.1136T>A (p.Leu379Gln) c.1085T>A (p.Leu362Gln) c.1004T>A (p.Leu335Gln) n.1388T>A | |
X | g.18604060T>C | CA412359621 | CDKL5 | c.1136T>C (p.Leu379Pro) c.1085T>C (p.Leu362Pro) c.1004T>C (p.Leu335Pro) n.1388T>C | |
X | g.18604060T>G | CA10360357 | CDKL5 | c.1136T>G (p.Leu379Arg) c.1085T>G (p.Leu362Arg) c.1004T>G (p.Leu335Arg) n.1388T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604060T= | CA2417973819 | CDKL5 | c.1136T= (p.Leu379=) c.1085T= (p.Leu362=) c.1004T= (p.Leu335=) n.1388T= | |
X | g.18604060_18604063del | CA2695231303 | CDKL5 | c.1136_1139del (p.Leu379ProfsTer?) c.1085_1088del (p.Leu362ProfsTer?) c.1004_1007del (p.Leu335ProfsTer?) n.1388_1391del | |
X | g.18604061G>A | CA515627543 | CDKL5 | c.1137G>A (p.Leu379=) c.1086G>A (p.Leu362=) c.1005G>A (p.Leu335=) n.1389G>A | |
X | g.18604061G>C | CA515627542 | CDKL5 | c.1137G>C (p.Leu379=) c.1086G>C (p.Leu362=) c.1005G>C (p.Leu335=) n.1389G>C | |
X | g.18604061G>T | CA515627541 | CDKL5 | c.1137G>T (p.Leu379=) c.1086G>T (p.Leu362=) c.1005G>T (p.Leu335=) n.1389G>T | |
X | g.18604062C>A | CA326987724 | CDKL5 | c.1138C>A (p.His380Asn) c.1087C>A (p.His363Asn) c.1006C>A (p.His336Asn) n.1390C>A | dbSNP |
X | g.18604062C= | CA2417973820 | CDKL5 | c.1138C= (p.His380=) c.1087C= (p.His363=) c.1006C= (p.His336=) n.1390C= | |
X | g.18604062C>G | CA412359625 | CDKL5 | c.1138C>G (p.His380Asp) c.1087C>G (p.His363Asp) c.1006C>G (p.His336Asp) n.1390C>G | |
X | g.18604062C>T | CA412359627 | CDKL5 | c.1138C>T (p.His380Tyr) c.1087C>T (p.His363Tyr) c.1006C>T (p.His336Tyr) n.1390C>T | |
X | g.18604063A>C | CA412359629 | CDKL5 | c.1139A>C (p.His380Pro) c.1088A>C (p.His363Pro) c.1007A>C (p.His336Pro) n.1391A>C | |
X | g.18604063A>G | CA412359631 | CDKL5 | c.1139A>G (p.His380Arg) c.1088A>G (p.His363Arg) c.1007A>G (p.His336Arg) n.1391A>G | |
X | g.18604063A>T | CA412359633 | CDKL5 | c.1139A>T (p.His380Leu) c.1088A>T (p.His363Leu) c.1007A>T (p.His336Leu) n.1391A>T | |
X | g.18604064C>A | CA412359635 | CDKL5 | c.1140C>A (p.His380Gln) c.1089C>A (p.His363Gln) c.1008C>A (p.His336Gln) n.1392C>A | |
X | g.18604064C>G | CA412359637 | CDKL5 | c.1140C>G (p.His380Gln) c.1089C>G (p.His363Gln) c.1008C>G (p.His336Gln) n.1392C>G | |
X | g.18604064C>T | CA515627547 | CDKL5 | c.1140C>T (p.His380=) c.1089C>T (p.His363=) c.1008C>T (p.His336=) n.1392C>T | |
X | g.18604065A= | CA2417973821 | CDKL5 | c.1141A= (p.Thr381=) c.1090A= (p.Thr364=) c.1009A= (p.Thr337=) n.1393A= | |
X | g.18604065A>C | CA412359639 | CDKL5 | c.1141A>C (p.Thr381Pro) c.1090A>C (p.Thr364Pro) c.1009A>C (p.Thr337Pro) n.1393A>C | |
X | g.18604065A>G | CA412359641 | CDKL5 | c.1141A>G (p.Thr381Ala) c.1090A>G (p.Thr364Ala) c.1009A>G (p.Thr337Ala) n.1393A>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.18604065A>T | CA412359643 | CDKL5 | c.1141A>T (p.Thr381Ser) c.1090A>T (p.Thr364Ser) c.1009A>T (p.Thr337Ser) n.1393A>T | |
X | g.18604066C>A | CA412359645 | CDKL5 | c.1142C>A (p.Thr381Asn) c.1091C>A (p.Thr364Asn) c.1010C>A (p.Thr337Asn) n.1394C>A | |
X | g.18604066C>G | CA412359647 | CDKL5 | c.1142C>G (p.Thr381Ser) c.1091C>G (p.Thr364Ser) c.1010C>G (p.Thr337Ser) n.1394C>G | |
X | g.18604066C>T | CA412359648 | CDKL5 | c.1142C>T (p.Thr381Ile) c.1091C>T (p.Thr364Ile) c.1010C>T (p.Thr337Ile) n.1394C>T | gnomAD v4 |
X | g.18604067C>A | CA515627551 | CDKL5 | c.1143C>A (p.Thr381=) c.1092C>A (p.Thr364=) c.1011C>A (p.Thr337=) n.1395C>A | COSMIC |
X | g.18604067C>G | CA515627552 | CDKL5 | c.1143C>G (p.Thr381=) c.1092C>G (p.Thr364=) c.1011C>G (p.Thr337=) n.1395C>G | |
X | g.18604067C>T | CA515627553 | CDKL5 | c.1143C>T (p.Thr381=) c.1092C>T (p.Thr364=) c.1011C>T (p.Thr337=) n.1395C>T | |
X | g.18604068A>C | CA412359655 | CDKL5 | c.1144A>C (p.Lys382Gln) c.1093A>C (p.Lys365Gln) c.1012A>C (p.Lys338Gln) n.1396A>C | gnomAD v4 |
X | g.18604068A>G | CA412359651 | CDKL5 | c.1144A>G (p.Lys382Glu) c.1093A>G (p.Lys365Glu) c.1012A>G (p.Lys338Glu) n.1396A>G | |
X | g.18604068A>T | CA412359653 | CDKL5 | c.1144A>T (p.Lys382Ter) c.1093A>T (p.Lys365Ter) c.1012A>T (p.Lys338Ter) n.1396A>T | |
X | g.18604069A>C | CA412359657 | CDKL5 | c.1145A>C (p.Lys382Thr) c.1094A>C (p.Lys365Thr) c.1013A>C (p.Lys338Thr) n.1397A>C | |
X | g.18604069A>G | CA412359658 | CDKL5 | c.1145A>G (p.Lys382Arg) c.1094A>G (p.Lys365Arg) c.1013A>G (p.Lys338Arg) n.1397A>G | gnomAD v4 |
X | g.18604069A>T | CA412359661 | CDKL5 | c.1145A>T (p.Lys382Ile) c.1094A>T (p.Lys365Ile) c.1013A>T (p.Lys338Ile) n.1397A>T | |
X | g.18604069_18604074delinsAAACCT | CA2417973822 | CDKL5 | c.1145_1150delinsAAACCT (p.Lys382=) c.1094_1099delinsAAACCT (p.Lys365=) c.1013_1018delinsAAACCT (p.Lys338=) n.1397_1402delinsAAACCT | |
X | g.18604070A= | CA2417973823 | CDKL5 | c.1146A= (p.Lys382=) c.1095A= (p.Lys365=) c.1014A= (p.Lys338=) n.1398A= | |
X | g.18604070A>C | CA412359663 | CDKL5 | c.1146A>C (p.Lys382Asn) c.1095A>C (p.Lys365Asn) c.1014A>C (p.Lys338Asn) n.1398A>C | |
X | g.18604070A>G | CA515627557 | CDKL5 | c.1146A>G (p.Lys382=) c.1095A>G (p.Lys365=) c.1014A>G (p.Lys338=) n.1398A>G | dbSNP |
X | g.18604070A>T | CA412359664 | CDKL5 | c.1146A>T (p.Lys382Asn) c.1095A>T (p.Lys365Asn) c.1014A>T (p.Lys338Asn) n.1398A>T | |
X | g.18604071_18604075del | CA913190338 | CDKL5 | c.1147_1151del (p.Thr383ProfsTer23) c.1096_1100del (p.Thr366ProfsTer23) c.1015_1019del (p.Thr339ProfsTer23) n.1399_1403del | ClinVar dbSNP |
X | g.18604071A>C | CA412359668 | CDKL5 | c.1147A>C (p.Thr383Pro) c.1096A>C (p.Thr366Pro) c.1015A>C (p.Thr339Pro) n.1399A>C | |
X | g.18604071A>G | CA412359671 | CDKL5 | c.1147A>G (p.Thr383Ala) c.1096A>G (p.Thr366Ala) c.1015A>G (p.Thr339Ala) n.1399A>G | |
X | g.18604071A>T | CA412359669 | CDKL5 | c.1147A>T (p.Thr383Ser) c.1096A>T (p.Thr366Ser) c.1015A>T (p.Thr339Ser) n.1399A>T | |
X | g.18604072C>A | CA412359673 | CDKL5 | c.1148C>A (p.Thr383Asn) c.1097C>A (p.Thr366Asn) c.1016C>A (p.Thr339Asn) n.1400C>A | |
X | g.18604072C>G | CA412359675 | CDKL5 | c.1148C>G (p.Thr383Ser) c.1097C>G (p.Thr366Ser) c.1016C>G (p.Thr339Ser) n.1400C>G | |
X | g.18604072C>T | CA412359677 | CDKL5 | c.1148C>T (p.Thr383Ile) c.1097C>T (p.Thr366Ile) c.1016C>T (p.Thr339Ile) n.1400C>T | |
X | g.18604073C>A | CA515627559 | CDKL5 | c.1149C>A (p.Thr383=) c.1098C>A (p.Thr366=) c.1017C>A (p.Thr339=) n.1401C>A | |
X | g.18604073C>G | CA515627560 | CDKL5 | c.1149C>G (p.Thr383=) c.1098C>G (p.Thr366=) c.1017C>G (p.Thr339=) n.1401C>G | |
X | g.18604073C>T | CA515627561 | CDKL5 | c.1149C>T (p.Thr383=) c.1098C>T (p.Thr366=) c.1017C>T (p.Thr339=) n.1401C>T | |
X | g.18604074T>A | CA412359679 | CDKL5 | c.1150T>A (p.Tyr384Asn) c.1099T>A (p.Tyr367Asn) c.1018T>A (p.Tyr340Asn) n.1402T>A | |
X | g.18604074T>C | CA412359681 | CDKL5 | c.1150T>C (p.Tyr384His) c.1099T>C (p.Tyr367His) c.1018T>C (p.Tyr340His) n.1402T>C | |
X | g.18604074T>G | CA412359682 | CDKL5 | c.1150T>G (p.Tyr384Asp) c.1099T>G (p.Tyr367Asp) c.1018T>G (p.Tyr340Asp) n.1402T>G | |
X | g.18604075A>C | CA412359684 | CDKL5 | c.1151A>C (p.Tyr384Ser) c.1100A>C (p.Tyr367Ser) c.1019A>C (p.Tyr340Ser) n.1403A>C | |
X | g.18604075A>G | CA412359686 | CDKL5 | c.1151A>G (p.Tyr384Cys) c.1100A>G (p.Tyr367Cys) c.1019A>G (p.Tyr340Cys) n.1403A>G | |
X | g.18604075A>T | CA412359688 | CDKL5 | c.1151A>T (p.Tyr384Phe) c.1100A>T (p.Tyr367Phe) c.1019A>T (p.Tyr340Phe) n.1403A>T | |
X | g.18604076C>A | CA412359690 | CDKL5 | c.1152C>A (p.Tyr384Ter) c.1101C>A (p.Tyr367Ter) c.1020C>A (p.Tyr340Ter) n.1404C>A | |
X | g.18604076C= | CA2417973826 | CDKL5 | c.1152C= (p.Tyr384=) c.1101C= (p.Tyr367=) c.1020C= (p.Tyr340=) n.1404C= | |
X | g.18604076C>G | CA200935 | CDKL5 | c.1152C>G (p.Tyr384Ter) c.1101C>G (p.Tyr367Ter) c.1020C>G (p.Tyr340Ter) n.1404C>G | ClinVar dbSNP |
X | g.18604076C>T | CA515627565 | CDKL5 | c.1152C>T (p.Tyr384=) c.1101C>T (p.Tyr367=) c.1020C>T (p.Tyr340=) n.1404C>T | |
X | g.18604077C>A | CA10360358 | CDKL5 | c.1153C>A (p.Gln385Lys) c.1102C>A (p.Gln368Lys) c.1021C>A (p.Gln341Lys) n.1405C>A | dbSNP ExAC gnomAD v2 |
X | g.18604077C= | CA2417973827 | CDKL5 | c.1153C= (p.Gln385=) c.1102C= (p.Gln368=) c.1021C= (p.Gln341=) n.1405C= | |
X | g.18604077C>G | CA412359694 | CDKL5 | c.1153C>G (p.Gln385Glu) c.1102C>G (p.Gln368Glu) c.1021C>G (p.Gln341Glu) n.1405C>G | |
X | g.18604077C>T | CA412359693 | CDKL5 | c.1153C>T (p.Gln385Ter) c.1102C>T (p.Gln368Ter) c.1021C>T (p.Gln341Ter) n.1405C>T | |
X | g.18604078A>C | CA412359697 | CDKL5 | c.1154A>C (p.Gln385Pro) c.1103A>C (p.Gln368Pro) c.1022A>C (p.Gln341Pro) n.1406A>C | |
X | g.18604078A>G | CA412359701 | CDKL5 | c.1154A>G (p.Gln385Arg) c.1103A>G (p.Gln368Arg) c.1022A>G (p.Gln341Arg) n.1406A>G | |
X | g.18604078A>T | CA412359698 | CDKL5 | c.1154A>T (p.Gln385Leu) c.1103A>T (p.Gln368Leu) c.1022A>T (p.Gln341Leu) n.1406A>T | |
X | g.18604079A>C | CA412359702 | CDKL5 | c.1155A>C (p.Gln385His) c.1104A>C (p.Gln368His) c.1023A>C (p.Gln341His) n.1407A>C | |
X | g.18604079A>G | CA515627568 | CDKL5 | c.1155A>G (p.Gln385=) c.1104A>G (p.Gln368=) c.1023A>G (p.Gln341=) n.1407A>G | |
X | g.18604079A>T | CA412359704 | CDKL5 | c.1155A>T (p.Gln385His) c.1104A>T (p.Gln368His) c.1023A>T (p.Gln341His) n.1407A>T | |
X | g.18604080del | CA2695231305 | CDKL5 | c.1156del (p.Ala386GlnfsTer?) c.1105del (p.Ala369GlnfsTer?) c.1024del (p.Ala342GlnfsTer?) n.1408del | |
X | g.18604080G>A | CA412359707 | CDKL5 | c.1156G>A (p.Ala386Thr) c.1105G>A (p.Ala369Thr) c.1024G>A (p.Ala342Thr) n.1408G>A | |
X | g.18604080G>C | CA412359708 | CDKL5 | c.1156G>C (p.Ala386Pro) c.1105G>C (p.Ala369Pro) c.1024G>C (p.Ala342Pro) n.1408G>C | |
X | g.18604080G>T | CA412359709 | CDKL5 | c.1156G>T (p.Ala386Ser) c.1105G>T (p.Ala369Ser) c.1024G>T (p.Ala342Ser) n.1408G>T | |
X | g.18604081C>A | CA412359711 | CDKL5 | c.1157C>A (p.Ala386Glu) c.1106C>A (p.Ala369Glu) c.1025C>A (p.Ala342Glu) n.1409C>A | |
X | g.18604081C>G | CA412359713 | CDKL5 | c.1157C>G (p.Ala386Gly) c.1106C>G (p.Ala369Gly) c.1025C>G (p.Ala342Gly) n.1409C>G | |
X | g.18604081C>T | CA412359715 | CDKL5 | c.1157C>T (p.Ala386Val) c.1106C>T (p.Ala369Val) c.1025C>T (p.Ala342Val) n.1409C>T | |
X | g.18604082A>C | CA515627571 | CDKL5 | c.1158A>C (p.Ala386=) c.1107A>C (p.Ala369=) c.1026A>C (p.Ala342=) n.1410A>C | |
X | g.18604082A>G | CA515627572 | CDKL5 | c.1158A>G (p.Ala386=) c.1107A>G (p.Ala369=) c.1026A>G (p.Ala342=) n.1410A>G | |
X | g.18604082A>T | CA515627573 | CDKL5 | c.1158A>T (p.Ala386=) c.1107A>T (p.Ala369=) c.1026A>T (p.Ala342=) n.1410A>T | |
X | g.18604083A= | CA2417973828 | CDKL5 | c.1159A= (p.Ser387=) c.1108A= (p.Ser370=) c.1027A= (p.Ser343=) n.1411A= | |
X | g.18604083A>C | CA412359717 | CDKL5 | c.1159A>C (p.Ser387Arg) c.1108A>C (p.Ser370Arg) c.1027A>C (p.Ser343Arg) n.1411A>C | |
X | g.18604083A>G | CA10360359 | CDKL5 | c.1159A>G (p.Ser387Gly) c.1108A>G (p.Ser370Gly) c.1027A>G (p.Ser343Gly) n.1411A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604083A>T | CA412359720 | CDKL5 | c.1159A>T (p.Ser387Cys) c.1108A>T (p.Ser370Cys) c.1027A>T (p.Ser343Cys) n.1411A>T | |
X | g.18604084G>A | CA412359722 | CDKL5 | c.1160G>A (p.Ser387Asn) c.1109G>A (p.Ser370Asn) c.1028G>A (p.Ser343Asn) n.1412G>A | |
X | g.18604084G>C | CA412359724 | CDKL5 | c.1160G>C (p.Ser387Thr) c.1109G>C (p.Ser370Thr) c.1028G>C (p.Ser343Thr) n.1412G>C | |
X | g.18604084G>T | CA412359726 | CDKL5 | c.1160G>T (p.Ser387Ile) c.1109G>T (p.Ser370Ile) c.1028G>T (p.Ser343Ile) n.1412G>T | |
X | g.18604085C>A | CA412359730 | CDKL5 | c.1161C>A (p.Ser387Arg) c.1110C>A (p.Ser370Arg) c.1029C>A (p.Ser343Arg) n.1413C>A | |
X | g.18604085C>G | CA412359729 | CDKL5 | c.1161C>G (p.Ser387Arg) c.1110C>G (p.Ser370Arg) c.1029C>G (p.Ser343Arg) n.1413C>G | |
X | g.18604085C>T | CA515627577 | CDKL5 | c.1161C>T (p.Ser387=) c.1110C>T (p.Ser370=) c.1029C>T (p.Ser343=) n.1413C>T | |
X | g.18604090_18604093del | CA2580615394 | CDKL5 | c.1166_1169del (p.Gln389LeufsTer?) c.1115_1118del (p.Gln372LeufsTer?) c.1034_1037del (p.Gln345LeufsTer?) n.1418_1421del | ClinVar |
X | g.18604086A>C | CA412359732 | CDKL5 | c.1162A>C (p.Ser388Arg) c.1111A>C (p.Ser371Arg) c.1030A>C (p.Ser344Arg) n.1414A>C | |
X | g.18604086A>G | CA412359734 | CDKL5 | c.1162A>G (p.Ser388Gly) c.1111A>G (p.Ser371Gly) c.1030A>G (p.Ser344Gly) n.1414A>G | |
X | g.18604086A>T | CA412359736 | CDKL5 | c.1162A>T (p.Ser388Cys) c.1111A>T (p.Ser371Cys) c.1030A>T (p.Ser344Cys) n.1414A>T | |
X | g.18604087G>A | CA10360360 | CDKL5 | c.1163G>A (p.Ser388Asn) c.1112G>A (p.Ser371Asn) c.1031G>A (p.Ser344Asn) n.1415G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604087G>C | CA412359739 | CDKL5 | c.1163G>C (p.Ser388Thr) c.1112G>C (p.Ser371Thr) c.1031G>C (p.Ser344Thr) n.1415G>C | |
X | g.18604087G= | CA2417973829 | CDKL5 | c.1163G= (p.Ser388=) c.1112G= (p.Ser371=) c.1031G= (p.Ser344=) n.1415G= | |
X | g.18604087G>T | CA412359741 | CDKL5 | c.1163G>T (p.Ser388Ile) c.1112G>T (p.Ser371Ile) c.1031G>T (p.Ser344Ile) n.1415G>T | |
X | g.18604088C>A | CA412359743 | CDKL5 | c.1164C>A (p.Ser388Arg) c.1113C>A (p.Ser371Arg) c.1032C>A (p.Ser344Arg) n.1416C>A | |
X | g.18604088C>G | CA412359744 | CDKL5 | c.1164C>G (p.Ser388Arg) c.1113C>G (p.Ser371Arg) c.1032C>G (p.Ser344Arg) n.1416C>G | |
X | g.18604088C>T | CA515627580 | CDKL5 | c.1164C>T (p.Ser388=) c.1113C>T (p.Ser371=) c.1032C>T (p.Ser344=) n.1416C>T | ClinVar |
X | g.18604089C>A | CA412359745 | CDKL5 | c.1165C>A (p.Gln389Lys) c.1114C>A (p.Gln372Lys) c.1033C>A (p.Gln345Lys) n.1417C>A | |
X | g.18604089C= | CA2417973830 | CDKL5 | c.1165C= (p.Gln389=) c.1114C= (p.Gln372=) c.1033C= (p.Gln345=) n.1417C= | |
X | g.18604089C>G | CA412359747 | CDKL5 | c.1165C>G (p.Gln389Glu) c.1114C>G (p.Gln372Glu) c.1033C>G (p.Gln345Glu) n.1417C>G | |
X | g.18604089C>T | CA412359749 | CDKL5 | c.1165C>T (p.Gln389Ter) c.1114C>T (p.Gln372Ter) c.1033C>T (p.Gln345Ter) n.1417C>T | ClinVar dbSNP |
X | g.18604090A= | CA2417973831 | CDKL5 | c.1166A= (p.Gln389=) c.1115A= (p.Gln372=) c.1034A= (p.Gln345=) n.1418A= | |
X | g.18604090A>C | CA412359755 | CDKL5 | c.1166A>C (p.Gln389Pro) c.1115A>C (p.Gln372Pro) c.1034A>C (p.Gln345Pro) n.1418A>C | dbSNP |
X | g.18604090A>G | CA412359753 | CDKL5 | c.1166A>G (p.Gln389Arg) c.1115A>G (p.Gln372Arg) c.1034A>G (p.Gln345Arg) n.1418A>G | |
X | g.18604090A>T | CA412359751 | CDKL5 | c.1166A>T (p.Gln389Leu) c.1115A>T (p.Gln372Leu) c.1034A>T (p.Gln345Leu) n.1418A>T | ClinVar |
X | g.18604091G>A | CA10360361 | CDKL5 | c.1167G>A (p.Gln389=) c.1116G>A (p.Gln372=) c.1035G>A (p.Gln345=) n.1419G>A | dbSNP ExAC gnomAD v2 |
X | g.18604091G>C | CA412359758 | CDKL5 | c.1167G>C (p.Gln389His) c.1116G>C (p.Gln372His) c.1035G>C (p.Gln345His) n.1419G>C | |
X | g.18604091G= | CA2417973832 | CDKL5 | c.1167G= (p.Gln389=) c.1116G= (p.Gln372=) c.1035G= (p.Gln345=) n.1419G= | |
X | g.18604091G>T | CA412359760 | CDKL5 | c.1167G>T (p.Gln389His) c.1116G>T (p.Gln372His) c.1035G>T (p.Gln345His) n.1419G>T | |
X | g.18604092C>A | CA412359762 | CDKL5 | c.1168C>A (p.Pro390Thr) c.1117C>A (p.Pro373Thr) c.1036C>A (p.Pro346Thr) n.1420C>A | |
X | g.18604092C>G | CA412359764 | CDKL5 | c.1168C>G (p.Pro390Ala) c.1117C>G (p.Pro373Ala) c.1036C>G (p.Pro346Ala) n.1420C>G | |
X | g.18604092C>T | CA412359766 | CDKL5 | c.1168C>T (p.Pro390Ser) c.1117C>T (p.Pro373Ser) c.1036C>T (p.Pro346Ser) n.1420C>T | |
X | g.18604093C>A | CA412359768 | CDKL5 | c.1169C>A (p.Pro390His) c.1118C>A (p.Pro373His) c.1037C>A (p.Pro346His) n.1421C>A | |
X | g.18604093C>G | CA412359770 | CDKL5 | c.1169C>G (p.Pro390Arg) c.1118C>G (p.Pro373Arg) c.1037C>G (p.Pro346Arg) n.1421C>G | |
X | g.18604093C>T | CA412359772 | CDKL5 | c.1169C>T (p.Pro390Leu) c.1118C>T (p.Pro373Leu) c.1037C>T (p.Pro346Leu) n.1421C>T | |
X | g.18604094T>A | CA515627583 | CDKL5 | c.1170T>A (p.Pro390=) c.1119T>A (p.Pro373=) c.1038T>A (p.Pro346=) n.1422T>A | |
X | g.18604094T>C | CA515627581 | CDKL5 | c.1170T>C (p.Pro390=) c.1119T>C (p.Pro373=) c.1038T>C (p.Pro346=) n.1422T>C | |
X | g.18604094T>G | CA515627582 | CDKL5 | c.1170T>G (p.Pro390=) c.1119T>G (p.Pro373=) c.1038T>G (p.Pro346=) n.1422T>G | gnomAD v4 |
X | g.18604095G>A | CA412359774 | CDKL5 | c.1171G>A (p.Gly391Arg) c.1120G>A (p.Gly374Arg) c.1039G>A (p.Gly347Arg) n.1423G>A | |
X | g.18604095G>C | CA412359776 | CDKL5 | c.1171G>C (p.Gly391Arg) c.1120G>C (p.Gly374Arg) c.1039G>C (p.Gly347Arg) n.1423G>C | |
X | g.18604095G>T | CA412359778 | CDKL5 | c.1171G>T (p.Gly391Trp) c.1120G>T (p.Gly374Trp) c.1039G>T (p.Gly347Trp) n.1423G>T | |
X | g.18604096G>A | CA412359783 | CDKL5 | c.1172G>A (p.Gly391Glu) c.1121G>A (p.Gly374Glu) c.1040G>A (p.Gly347Glu) n.1424G>A | dbSNP |
X | g.18604096G>C | CA412359780 | CDKL5 | c.1172G>C (p.Gly391Ala) c.1121G>C (p.Gly374Ala) c.1040G>C (p.Gly347Ala) n.1424G>C | |
X | g.18604096G= | CA2417973833 | CDKL5 | c.1172G= (p.Gly391=) c.1121G= (p.Gly374=) c.1040G= (p.Gly347=) n.1424G= | |
X | g.18604096G>T | CA412359782 | CDKL5 | c.1172G>T (p.Gly391Val) c.1121G>T (p.Gly374Val) c.1040G>T (p.Gly347Val) n.1424G>T | |
X | g.18604097G>A | CA515627584 | CDKL5 | c.1173G>A (p.Gly391=) c.1122G>A (p.Gly374=) c.1041G>A (p.Gly347=) n.1425G>A | |
X | g.18604097G>C | CA515627585 | CDKL5 | c.1173G>C (p.Gly391=) c.1122G>C (p.Gly374=) c.1041G>C (p.Gly347=) n.1425G>C | |
X | g.18604097G>T | CA515627586 | CDKL5 | c.1173G>T (p.Gly391=) c.1122G>T (p.Gly374=) c.1041G>T (p.Gly347=) n.1425G>T | COSMIC |
X | g.18604098T>A | CA412359786 | CDKL5 | c.1174T>A (p.Ser392Thr) c.1123T>A (p.Ser375Thr) c.1042T>A (p.Ser348Thr) n.1426T>A | |
X | g.18604098T>C | CA412359788 | CDKL5 | c.1174T>C (p.Ser392Pro) c.1123T>C (p.Ser375Pro) c.1042T>C (p.Ser348Pro) n.1426T>C | |
X | g.18604098T>G | CA412359789 | CDKL5 | c.1174T>G (p.Ser392Ala) c.1123T>G (p.Ser375Ala) c.1042T>G (p.Ser348Ala) n.1426T>G | |
X | g.18604099C>A | CA412359792 | CDKL5 | c.1175C>A (p.Ser392Tyr) c.1124C>A (p.Ser375Tyr) c.1043C>A (p.Ser348Tyr) n.1427C>A | |
X | g.18604099C>G | CA412359794 | CDKL5 | c.1175C>G (p.Ser392Cys) c.1124C>G (p.Ser375Cys) c.1043C>G (p.Ser348Cys) n.1427C>G | |
X | g.18604099C>T | CA412359795 | CDKL5 | c.1175C>T (p.Ser392Phe) c.1124C>T (p.Ser375Phe) c.1043C>T (p.Ser348Phe) n.1427C>T | |
X | g.18604100T>A | CA515627588 | CDKL5 | c.1176T>A (p.Ser392=) c.1125T>A (p.Ser375=) c.1044T>A (p.Ser348=) n.1428T>A | |
X | g.18604100T>C | CA515627587 | CDKL5 | c.1176T>C (p.Ser392=) c.1125T>C (p.Ser375=) c.1044T>C (p.Ser348=) n.1428T>C | |
X | g.18604100T>G | CA515627589 | CDKL5 | c.1176T>G (p.Ser392=) c.1125T>G (p.Ser375=) c.1044T>G (p.Ser348=) n.1428T>G | |
X | g.18604101A= | CA2417973834 | CDKL5 | c.1177A= (p.Thr393=) c.1126A= (p.Thr376=) c.1045A= (p.Thr349=) n.1429A= | |
X | g.18604101A>C | CA412359797 | CDKL5 | c.1177A>C (p.Thr393Pro) c.1126A>C (p.Thr376Pro) c.1045A>C (p.Thr349Pro) n.1429A>C | |
X | g.18604101A>G | CA412359799 | CDKL5 | c.1177A>G (p.Thr393Ala) c.1126A>G (p.Thr376Ala) c.1045A>G (p.Thr349Ala) n.1429A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604101A>T | CA412359800 | CDKL5 | c.1177A>T (p.Thr393Ser) c.1126A>T (p.Thr376Ser) c.1045A>T (p.Thr349Ser) n.1429A>T | |
X | g.18604102C>A | CA412359803 | CDKL5 | c.1178C>A (p.Thr393Asn) c.1127C>A (p.Thr376Asn) c.1046C>A (p.Thr349Asn) n.1430C>A | |
X | g.18604102C>G | CA412359805 | CDKL5 | c.1178C>G (p.Thr393Ser) c.1127C>G (p.Thr376Ser) c.1046C>G (p.Thr349Ser) n.1430C>G | gnomAD v4 |
X | g.18604102C>T | CA412359806 | CDKL5 | c.1178C>T (p.Thr393Ile) c.1127C>T (p.Thr376Ile) c.1046C>T (p.Thr349Ile) n.1430C>T | |
X | g.18604103C>A | CA515627590 | CDKL5 | c.1179C>A (p.Thr393=) c.1128C>A (p.Thr376=) c.1047C>A (p.Thr349=) n.1431C>A | |
X | g.18604103C>G | CA515627592 | CDKL5 | c.1179C>G (p.Thr393=) c.1128C>G (p.Thr376=) c.1047C>G (p.Thr349=) n.1431C>G | |
X | g.18604103C>T | CA515627593 | CDKL5 | c.1179C>T (p.Thr393=) c.1128C>T (p.Thr376=) c.1047C>T (p.Thr349=) n.1431C>T | |
X | g.18604104A>C | CA412359810 | CDKL5 | c.1180A>C (p.Ser394Arg) c.1129A>C (p.Ser377Arg) c.1048A>C (p.Ser350Arg) n.1432A>C | |
X | g.18604104A>G | CA412359812 | CDKL5 | c.1180A>G (p.Ser394Gly) c.1129A>G (p.Ser377Gly) c.1048A>G (p.Ser350Gly) n.1432A>G | |
X | g.18604104A>T | CA412359808 | CDKL5 | c.1180A>T (p.Ser394Cys) c.1129A>T (p.Ser377Cys) c.1048A>T (p.Ser350Cys) n.1432A>T | |
X | g.18604104_18604105dup | CA2740092027 | CDKL5 | c.1180_1181dup (p.Ser394ArgfsTer?) c.1129_1130dup (p.Ser377ArgfsTer?) c.1048_1049dup (p.Ser350ArgfsTer?) n.1432_1433dup | ClinVar |
X | g.18604105G>A | CA412359814 | CDKL5 | c.1181G>A (p.Ser394Asn) c.1130G>A (p.Ser377Asn) c.1049G>A (p.Ser350Asn) n.1433G>A | |
X | g.18604105G>C | CA412359816 | CDKL5 | c.1181G>C (p.Ser394Thr) c.1130G>C (p.Ser377Thr) c.1049G>C (p.Ser350Thr) n.1433G>C | |
X | g.18604105G>T | CA412359817 | CDKL5 | c.1181G>T (p.Ser394Ile) c.1130G>T (p.Ser377Ile) c.1049G>T (p.Ser350Ile) n.1433G>T | |
X | g.18604106C>A | CA412359820 | CDKL5 | c.1182C>A (p.Ser394Arg) c.1131C>A (p.Ser377Arg) c.1050C>A (p.Ser350Arg) n.1434C>A | |
X | g.18604106C>G | CA412359822 | CDKL5 | c.1182C>G (p.Ser394Arg) c.1131C>G (p.Ser377Arg) c.1050C>G (p.Ser350Arg) n.1434C>G | |
X | g.18604106C>T | CA515627595 | CDKL5 | c.1182C>T (p.Ser394=) c.1131C>T (p.Ser377=) c.1050C>T (p.Ser350=) n.1434C>T | |
X | g.18604107A>C | CA412359824 | CDKL5 | c.1183A>C (p.Lys395Gln) c.1132A>C (p.Lys378Gln) c.1051A>C (p.Lys351Gln) n.1435A>C | |
X | g.18604107A>G | CA412359826 | CDKL5 | c.1183A>G (p.Lys395Glu) c.1132A>G (p.Lys378Glu) c.1051A>G (p.Lys351Glu) n.1435A>G | |
X | g.18604107A>T | CA412359827 | CDKL5 | c.1183A>T (p.Lys395Ter) c.1132A>T (p.Lys378Ter) c.1051A>T (p.Lys351Ter) n.1435A>T | |
X | g.18604108A>C | CA412359830 | CDKL5 | c.1184A>C (p.Lys395Thr) c.1133A>C (p.Lys378Thr) c.1052A>C (p.Lys351Thr) n.1436A>C | |
X | g.18604108A>G | CA412359832 | CDKL5 | c.1184A>G (p.Lys395Arg) c.1133A>G (p.Lys378Arg) c.1052A>G (p.Lys351Arg) n.1436A>G | |
X | g.18604108A>T | CA412359833 | CDKL5 | c.1184A>T (p.Lys395Ile) c.1133A>T (p.Lys378Ile) c.1052A>T (p.Lys351Ile) n.1436A>T | |
X | g.18604109A>C | CA412359836 | CDKL5 | c.1185A>C (p.Lys395Asn) c.1134A>C (p.Lys378Asn) c.1053A>C (p.Lys351Asn) n.1437A>C | |
X | g.18604109A>G | CA515627597 | CDKL5 | c.1185A>G (p.Lys395=) c.1134A>G (p.Lys378=) c.1053A>G (p.Lys351=) n.1437A>G | |
X | g.18604109A>T | CA412359838 | CDKL5 | c.1185A>T (p.Lys395Asn) c.1134A>T (p.Lys378Asn) c.1053A>T (p.Lys351Asn) n.1437A>T | |
X | g.18604110G>A | CA412359843 | CDKL5 | c.1186G>A (p.Asp396Asn) c.1135G>A (p.Asp379Asn) c.1054G>A (p.Asp352Asn) n.1438G>A | gnomAD v4 |
X | g.18604110G>C | CA412359842 | CDKL5 | c.1186G>C (p.Asp396His) c.1135G>C (p.Asp379His) c.1054G>C (p.Asp352His) n.1438G>C | |
X | g.18604110G>T | CA412359841 | CDKL5 | c.1186G>T (p.Asp396Tyr) c.1135G>T (p.Asp379Tyr) c.1054G>T (p.Asp352Tyr) n.1438G>T | |
X | g.18604111A>C | CA412359846 | CDKL5 | c.1187A>C (p.Asp396Ala) c.1136A>C (p.Asp379Ala) c.1055A>C (p.Asp352Ala) n.1439A>C | |
X | g.18604111A>G | CA412359848 | CDKL5 | c.1187A>G (p.Asp396Gly) c.1136A>G (p.Asp379Gly) c.1055A>G (p.Asp352Gly) n.1439A>G | |
X | g.18604111A>T | CA412359849 | CDKL5 | c.1187A>T (p.Asp396Val) c.1136A>T (p.Asp379Val) c.1055A>T (p.Asp352Val) n.1439A>T | |
X | g.18604112T>A | CA10360362 | CDKL5 | c.1188T>A (p.Asp396Glu) c.1137T>A (p.Asp379Glu) c.1056T>A (p.Asp352Glu) n.1440T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604112T>C | CA515627601 | CDKL5 | c.1188T>C (p.Asp396=) c.1137T>C (p.Asp379=) c.1056T>C (p.Asp352=) n.1440T>C | |
X | g.18604112T>G | CA412359851 | CDKL5 | c.1188T>G (p.Asp396Glu) c.1137T>G (p.Asp379Glu) c.1056T>G (p.Asp352Glu) n.1440T>G | dbSNP |
X | g.18604112T= | CA2417973837 | CDKL5 | c.1188T= (p.Asp396=) c.1137T= (p.Asp379=) c.1056T= (p.Asp352=) n.1440T= | |
X | g.18604113C>A | CA412359853 | CDKL5 | c.1189C>A (p.Leu397Ile) c.1138C>A (p.Leu380Ile) c.1057C>A (p.Leu353Ile) n.1441C>A | |
X | g.18604113C= | CA2417973839 | CDKL5 | c.1189C= (p.Leu397=) c.1138C= (p.Leu380=) c.1057C= (p.Leu353=) n.1441C= | |
X | g.18604113C>G | CA412359855 | CDKL5 | c.1189C>G (p.Leu397Val) c.1138C>G (p.Leu380Val) c.1057C>G (p.Leu353Val) n.1441C>G | dbSNP |
X | g.18604113C>T | CA412359857 | CDKL5 | c.1189C>T (p.Leu397Phe) c.1138C>T (p.Leu380Phe) c.1057C>T (p.Leu353Phe) n.1441C>T | |
X | g.18604114T>A | CA412359859 | CDKL5 | c.1190T>A (p.Leu397His) c.1139T>A (p.Leu380His) c.1058T>A (p.Leu353His) n.1442T>A | |
X | g.18604114T>C | CA412359861 | CDKL5 | c.1190T>C (p.Leu397Pro) c.1139T>C (p.Leu380Pro) c.1058T>C (p.Leu353Pro) n.1442T>C | |
X | g.18604114T>G | CA412359863 | CDKL5 | c.1190T>G (p.Leu397Arg) c.1139T>G (p.Leu380Arg) c.1058T>G (p.Leu353Arg) n.1442T>G | |
X | g.18604115C>A | CA515627604 | CDKL5 | c.1191C>A (p.Leu397=) c.1140C>A (p.Leu380=) c.1059C>A (p.Leu353=) n.1443C>A | |
X | g.18604115C>G | CA515627603 | CDKL5 | c.1191C>G (p.Leu397=) c.1140C>G (p.Leu380=) c.1059C>G (p.Leu353=) n.1443C>G | |
X | g.18604115C>T | CA515627602 | CDKL5 | c.1191C>T (p.Leu397=) c.1140C>T (p.Leu380=) c.1059C>T (p.Leu353=) n.1443C>T | |
X | g.18604116A= | CA2417973843 | CDKL5 | c.1192A= (p.Thr398=) c.1141A= (p.Thr381=) c.1060A= (p.Thr354=) n.1444A= | |
X | g.18604116A>C | CA412359865 | CDKL5 | c.1192A>C (p.Thr398Pro) c.1141A>C (p.Thr381Pro) c.1060A>C (p.Thr354Pro) n.1444A>C | |
X | g.18604116A>G | CA326987735 | CDKL5 | c.1192A>G (p.Thr398Ala) c.1141A>G (p.Thr381Ala) c.1060A>G (p.Thr354Ala) n.1444A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604116A>T | CA412359867 | CDKL5 | c.1192A>T (p.Thr398Ser) c.1141A>T (p.Thr381Ser) c.1060A>T (p.Thr354Ser) n.1444A>T | |
X | g.18604117C>A | CA412359871 | CDKL5 | c.1193C>A (p.Thr398Asn) c.1142C>A (p.Thr381Asn) c.1061C>A (p.Thr354Asn) n.1445C>A | |
X | g.18604117C>G | CA412359873 | CDKL5 | c.1193C>G (p.Thr398Ser) c.1142C>G (p.Thr381Ser) c.1061C>G (p.Thr354Ser) n.1445C>G | |
X | g.18604117C>T | CA412359870 | CDKL5 | c.1193C>T (p.Thr398Ile) c.1142C>T (p.Thr381Ile) c.1061C>T (p.Thr354Ile) n.1445C>T | |
X | g.18604118C>A | CA515627606 | CDKL5 | c.1194C>A (p.Thr398=) c.1143C>A (p.Thr381=) c.1062C>A (p.Thr354=) n.1446C>A | |
X | g.18604118C>G | CA515627607 | CDKL5 | c.1194C>G (p.Thr398=) c.1143C>G (p.Thr381=) c.1062C>G (p.Thr354=) n.1446C>G | |
X | g.18604118C>T | CA515627608 | CDKL5 | c.1194C>T (p.Thr398=) c.1143C>T (p.Thr381=) c.1062C>T (p.Thr354=) n.1446C>T | |
X | g.18604126_18604128del | CA2693222668 | CDKL5 | c.1202_1204del (p.Asn401del) c.1151_1153del (p.Asn384del) c.1070_1072del (p.Asn357del) n.1454_1456del | gnomAD v4 |
X | g.18604119A>C | CA412359875 | CDKL5 | c.1195A>C (p.Asn399His) c.1144A>C (p.Asn382His) c.1063A>C (p.Asn355His) n.1447A>C | |
X | g.18604119A>G | CA412359877 | CDKL5 | c.1195A>G (p.Asn399Asp) c.1144A>G (p.Asn382Asp) c.1063A>G (p.Asn355Asp) n.1447A>G | |
X | g.18604119A>T | CA412359879 | CDKL5 | c.1195A>T (p.Asn399Tyr) c.1144A>T (p.Asn382Tyr) c.1063A>T (p.Asn355Tyr) n.1447A>T | |
X | g.18604120A= | CA2417973847 | CDKL5 | c.1196A= (p.Asn399=) c.1145A= (p.Asn382=) c.1064A= (p.Asn355=) n.1448A= | |
X | g.18604120A>C | CA170438 | CDKL5 | c.1196A>C (p.Asn399Thr) c.1145A>C (p.Asn382Thr) c.1064A>C (p.Asn355Thr) n.1448A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604120A>G | CA412359882 | CDKL5 | c.1196A>G (p.Asn399Ser) c.1145A>G (p.Asn382Ser) c.1064A>G (p.Asn355Ser) n.1448A>G | ClinVar dbSNP |
X | g.18604120A>T | CA412359884 | CDKL5 | c.1196A>T (p.Asn399Ile) c.1145A>T (p.Asn382Ile) c.1064A>T (p.Asn355Ile) n.1448A>T | |
X | g.18604121C>A | CA412359886 | CDKL5 | c.1197C>A (p.Asn399Lys) c.1146C>A (p.Asn382Lys) c.1065C>A (p.Asn355Lys) n.1449C>A | |
X | g.18604121C= | CA2417973850 | CDKL5 | c.1197C= (p.Asn399=) c.1146C= (p.Asn382=) c.1065C= (p.Asn355=) n.1449C= | |
X | g.18604121C>G | CA412359888 | CDKL5 | c.1197C>G (p.Asn399Lys) c.1146C>G (p.Asn382Lys) c.1065C>G (p.Asn355Lys) n.1449C>G | |
X | g.18604121C>T | CA515627612 | CDKL5 | c.1197C>T (p.Asn399=) c.1146C>T (p.Asn382=) c.1065C>T (p.Asn355=) n.1449C>T | dbSNP gnomAD v4 |
X | g.18604122A= | CA2417973861 | CDKL5 | c.1198A= (p.Asn400=) c.1147A= (p.Asn383=) c.1066A= (p.Asn356=) n.1450A= | |
X | g.18604122A>C | CA326987740 | CDKL5 | c.1198A>C (p.Asn400His) c.1147A>C (p.Asn383His) c.1066A>C (p.Asn356His) n.1450A>C | ClinVar dbSNP gnomAD v4 |
X | g.18604122A>G | CA412359890 | CDKL5 | c.1198A>G (p.Asn400Asp) c.1147A>G (p.Asn383Asp) c.1066A>G (p.Asn356Asp) n.1450A>G | |
X | g.18604122A>T | CA412359892 | CDKL5 | c.1198A>T (p.Asn400Tyr) c.1147A>T (p.Asn383Tyr) c.1066A>T (p.Asn356Tyr) n.1450A>T | |
X | g.18604123A>C | CA412359894 | CDKL5 | c.1199A>C (p.Asn400Thr) c.1148A>C (p.Asn383Thr) c.1067A>C (p.Asn356Thr) n.1451A>C | |
X | g.18604123A>G | CA412359896 | CDKL5 | c.1199A>G (p.Asn400Ser) c.1148A>G (p.Asn383Ser) c.1067A>G (p.Asn356Ser) n.1451A>G | |
X | g.18604123A>T | CA412359897 | CDKL5 | c.1199A>T (p.Asn400Ile) c.1148A>T (p.Asn383Ile) c.1067A>T (p.Asn356Ile) n.1451A>T | |
X | g.18604124C>A | CA412359900 | CDKL5 | c.1200C>A (p.Asn400Lys) c.1149C>A (p.Asn383Lys) c.1068C>A (p.Asn356Lys) n.1452C>A | |
X | g.18604124C>G | CA412359902 | CDKL5 | c.1200C>G (p.Asn400Lys) c.1149C>G (p.Asn383Lys) c.1068C>G (p.Asn356Lys) n.1452C>G | |
X | g.18604124C>T | CA515627616 | CDKL5 | c.1200C>T (p.Asn400=) c.1149C>T (p.Asn383=) c.1068C>T (p.Asn356=) n.1452C>T | |
X | g.18604125A>C | CA412359903 | CDKL5 | c.1201A>C (p.Asn401His) c.1150A>C (p.Asn384His) c.1069A>C (p.Asn357His) n.1453A>C | |
X | g.18604125A>G | CA412359905 | CDKL5 | c.1201A>G (p.Asn401Asp) c.1150A>G (p.Asn384Asp) c.1069A>G (p.Asn357Asp) n.1453A>G | |
X | g.18604125A>T | CA412359907 | CDKL5 | c.1201A>T (p.Asn401Tyr) c.1150A>T (p.Asn384Tyr) c.1069A>T (p.Asn357Tyr) n.1453A>T | |
X | g.18604126A= | CA2417973864 | CDKL5 | c.1202A= (p.Asn401=) c.1151A= (p.Asn384=) c.1070A= (p.Asn357=) n.1454A= | |
X | g.18604126A>C | CA412359909 | CDKL5 | c.1202A>C (p.Asn401Thr) c.1151A>C (p.Asn384Thr) c.1070A>C (p.Asn357Thr) n.1454A>C | |
X | g.18604126A>G | CA412359911 | CDKL5 | c.1202A>G (p.Asn401Ser) c.1151A>G (p.Asn384Ser) c.1070A>G (p.Asn357Ser) n.1454A>G | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604126A>T | CA412359913 | CDKL5 | c.1202A>T (p.Asn401Ile) c.1151A>T (p.Asn384Ile) c.1070A>T (p.Asn357Ile) n.1454A>T | |
X | g.18604127C>A | CA412359915 | CDKL5 | c.1203C>A (p.Asn401Lys) c.1152C>A (p.Asn384Lys) c.1071C>A (p.Asn357Lys) n.1455C>A | |
X | g.18604127C>G | CA412359916 | CDKL5 | c.1203C>G (p.Asn401Lys) c.1152C>G (p.Asn384Lys) c.1071C>G (p.Asn357Lys) n.1455C>G | |
X | g.18604127C>T | CA515627620 | CDKL5 | c.1203C>T (p.Asn401=) c.1152C>T (p.Asn384=) c.1071C>T (p.Asn357=) n.1455C>T | gnomAD v4 |
X | g.18604128A>C | CA412359919 | CDKL5 | c.1204A>C (p.Ile402Leu) c.1153A>C (p.Ile385Leu) c.1072A>C (p.Ile358Leu) n.1456A>C | |
X | g.18604128A>G | CA412359921 | CDKL5 | c.1204A>G (p.Ile402Val) c.1153A>G (p.Ile385Val) c.1072A>G (p.Ile358Val) n.1456A>G | |
X | g.18604128A>T | CA412359922 | CDKL5 | c.1204A>T (p.Ile402Leu) c.1153A>T (p.Ile385Leu) c.1072A>T (p.Ile358Leu) n.1456A>T | |
X | g.18604129T>A | CA10360363 | CDKL5 | c.1205T>A (p.Ile402Lys) c.1154T>A (p.Ile385Lys) c.1073T>A (p.Ile358Lys) n.1457T>A | dbSNP ExAC |
X | g.18604129T>C | CA412359926 | CDKL5 | c.1205T>C (p.Ile402Thr) c.1154T>C (p.Ile385Thr) c.1073T>C (p.Ile358Thr) n.1457T>C | |
X | g.18604129T>G | CA412359925 | CDKL5 | c.1205T>G (p.Ile402Arg) c.1154T>G (p.Ile385Arg) c.1073T>G (p.Ile358Arg) n.1457T>G | |
X | g.18604129T= | CA2417973866 | CDKL5 | c.1205T= (p.Ile402=) c.1154T= (p.Ile385=) c.1073T= (p.Ile358=) n.1457T= | |
X | g.18604130A>C | CA515627622 | CDKL5 | c.1206A>C (p.Ile402=) c.1155A>C (p.Ile385=) c.1074A>C (p.Ile358=) n.1458A>C | |
X | g.18604130A>G | CA412359928 | CDKL5 | c.1206A>G (p.Ile402Met) c.1155A>G (p.Ile385Met) c.1074A>G (p.Ile358Met) n.1458A>G | |
X | g.18604130A>T | CA515627623 | CDKL5 | c.1206A>T (p.Ile402=) c.1155A>T (p.Ile385=) c.1074A>T (p.Ile358=) n.1458A>T | |
X | g.18604131C>A | CA412359934 | CDKL5 | c.1207C>A (p.Pro403Thr) c.1156C>A (p.Pro386Thr) c.1075C>A (p.Pro359Thr) n.1459C>A | |
X | g.18604131C= | CA2417973868 | CDKL5 | c.1207C= (p.Pro403=) c.1156C= (p.Pro386=) c.1075C= (p.Pro359=) n.1459C= | |
X | g.18604131C>G | CA412359931 | CDKL5 | c.1207C>G (p.Pro403Ala) c.1156C>G (p.Pro386Ala) c.1075C>G (p.Pro359Ala) n.1459C>G | |
X | g.18604131C>T | CA412359932 | CDKL5 | c.1207C>T (p.Pro403Ser) c.1156C>T (p.Pro386Ser) c.1075C>T (p.Pro359Ser) n.1459C>T | |
X | g.18604132del | CA2580100406 | CDKL5 | c.1208del (p.Pro403HisfsTer?) c.1157del (p.Pro386HisfsTer?) c.1076del (p.Pro359HisfsTer?) n.1460del | ClinVar |
X | g.18604132C>A | CA412359937 | CDKL5 | c.1208C>A (p.Pro403Gln) c.1157C>A (p.Pro386Gln) c.1076C>A (p.Pro359Gln) n.1460C>A | |
X | g.18604132C>G | CA412359938 | CDKL5 | c.1208C>G (p.Pro403Arg) c.1157C>G (p.Pro386Arg) c.1076C>G (p.Pro359Arg) n.1460C>G | |
X | g.18604132C>T | CA412359940 | CDKL5 | c.1208C>T (p.Pro403Leu) c.1157C>T (p.Pro386Leu) c.1076C>T (p.Pro359Leu) n.1460C>T | |
X | g.18604135_18604136dup | CA16621277 | CDKL5 | c.1211_1212dup (p.Leu405ThrfsTer?) c.1160_1161dup (p.Leu388ThrfsTer?) c.1079_1080dup (p.Leu361ThrfsTer?) n.1463_1464dup | ClinVar dbSNP |
X | g.18604133A= | CA2417973874 | CDKL5 | c.1209A= (p.Pro403=) c.1158A= (p.Pro386=) c.1077A= (p.Pro359=) n.1461A= | |
X | g.18604133A>C | CA515627625 | CDKL5 | c.1209A>C (p.Pro403=) c.1158A>C (p.Pro386=) c.1077A>C (p.Pro359=) n.1461A>C | |
X | g.18604133A>G | CA10360364 | CDKL5 | c.1209A>G (p.Pro403=) c.1158A>G (p.Pro386=) c.1077A>G (p.Pro359=) n.1461A>G | dbSNP ExAC |
X | g.18604133A>T | CA515627626 | CDKL5 | c.1209A>T (p.Pro403=) c.1158A>T (p.Pro386=) c.1077A>T (p.Pro359=) n.1461A>T | |
X | g.18604134C>A | CA412359945 | CDKL5 | c.1210C>A (p.His404Asn) c.1159C>A (p.His387Asn) c.1078C>A (p.His360Asn) n.1462C>A | |
X | g.18604134C>G | CA412359943 | CDKL5 | c.1210C>G (p.His404Asp) c.1159C>G (p.His387Asp) c.1078C>G (p.His360Asp) n.1462C>G | |
X | g.18604134C>T | CA412359942 | CDKL5 | c.1210C>T (p.His404Tyr) c.1159C>T (p.His387Tyr) c.1078C>T (p.His360Tyr) n.1462C>T | |
X | g.18604135A>C | CA412359947 | CDKL5 | c.1211A>C (p.His404Pro) c.1160A>C (p.His387Pro) c.1079A>C (p.His360Pro) n.1463A>C | |
X | g.18604135A>G | CA412359948 | CDKL5 | c.1211A>G (p.His404Arg) c.1160A>G (p.His387Arg) c.1079A>G (p.His360Arg) n.1463A>G | |
X | g.18604135A>T | CA412359950 | CDKL5 | c.1211A>T (p.His404Leu) c.1160A>T (p.His387Leu) c.1079A>T (p.His360Leu) n.1463A>T | |
X | g.18604136C>A | CA412359953 | CDKL5 | c.1212C>A (p.His404Gln) c.1161C>A (p.His387Gln) c.1080C>A (p.His360Gln) n.1464C>A | |
X | g.18604136C>G | CA412359954 | CDKL5 | c.1212C>G (p.His404Gln) c.1161C>G (p.His387Gln) c.1080C>G (p.His360Gln) n.1464C>G | |
X | g.18604136C>T | CA515627631 | CDKL5 | c.1212C>T (p.His404=) c.1161C>T (p.His387=) c.1080C>T (p.His360=) n.1464C>T | gnomAD v4 |
X | g.18604136_18604139delinsCCTT | CA2417973880 | CDKL5 | c.1212_1215delinsCCTT (p.His404=) c.1161_1164delinsCCTT (p.His387=) c.1080_1083delinsCCTT (p.His360=) n.1464_1467delinsCCTT | |
X | g.18604138_18604146del | CA2819902067 | CDKL5 | c.1214_1222del (p.Leu405_Ser407del) c.1163_1171del (p.Leu388_Ser390del) c.1082_1090del (p.Leu361_Ser363del) n.1466_1474del | |
X | g.18604137C>A | CA412359963 | CDKL5 | c.1213C>A (p.Leu405Ile) c.1162C>A (p.Leu388Ile) c.1081C>A (p.Leu361Ile) n.1465C>A | |
X | g.18604137C= | CA2417973884 | CDKL5 | c.1213C= (p.Leu405=) c.1162C= (p.Leu388=) c.1081C= (p.Leu361=) n.1465C= | |
X | g.18604137C>G | CA412359962 | CDKL5 | c.1213C>G (p.Leu405Val) c.1162C>G (p.Leu388Val) c.1081C>G (p.Leu361Val) n.1465C>G | ClinVar dbSNP gnomAD v4 |
X | g.18604137C>T | CA412359958 | CDKL5 | c.1213C>T (p.Leu405Phe) c.1162C>T (p.Leu388Phe) c.1081C>T (p.Leu361Phe) n.1465C>T | |
X | g.18604140_18604142del | CA10360365 | CDKL5 | c.1216_1218del (p.Leu406del) c.1165_1167del (p.Leu389del) c.1084_1086del (p.Leu362del) n.1468_1470del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604138T>A | CA412359965 | CDKL5 | c.1214T>A (p.Leu405His) c.1163T>A (p.Leu388His) c.1082T>A (p.Leu361His) n.1466T>A | |
X | g.18604138T>C | CA412359967 | CDKL5 | c.1214T>C (p.Leu405Pro) c.1163T>C (p.Leu388Pro) c.1082T>C (p.Leu361Pro) n.1466T>C | |
X | g.18604138T>G | CA412359968 | CDKL5 | c.1214T>G (p.Leu405Arg) c.1163T>G (p.Leu388Arg) c.1082T>G (p.Leu361Arg) n.1466T>G | |
X | g.18604139T>A | CA515627634 | CDKL5 | c.1215T>A (p.Leu405=) c.1164T>A (p.Leu388=) c.1083T>A (p.Leu361=) n.1467T>A | |
X | g.18604139T>C | CA515627635 | CDKL5 | c.1215T>C (p.Leu405=) c.1164T>C (p.Leu388=) c.1083T>C (p.Leu361=) n.1467T>C | |
X | g.18604139T>G | CA515627636 | CDKL5 | c.1215T>G (p.Leu405=) c.1164T>G (p.Leu388=) c.1083T>G (p.Leu361=) n.1467T>G | |
X | g.18604140C>A | CA412359970 | CDKL5 | c.1216C>A (p.Leu406Ile) c.1165C>A (p.Leu389Ile) c.1084C>A (p.Leu362Ile) n.1468C>A | |
X | g.18604140C>G | CA412359972 | CDKL5 | c.1216C>G (p.Leu406Val) c.1165C>G (p.Leu389Val) c.1084C>G (p.Leu362Val) n.1468C>G | |
X | g.18604140C>T | CA412359974 | CDKL5 | c.1216C>T (p.Leu406Phe) c.1165C>T (p.Leu389Phe) c.1084C>T (p.Leu362Phe) n.1468C>T | gnomAD v4 |
X | g.18604141T>A | CA412359975 | CDKL5 | c.1217T>A (p.Leu406His) c.1166T>A (p.Leu389His) c.1085T>A (p.Leu362His) n.1469T>A | |
X | g.18604141T>C | CA412359976 | CDKL5 | c.1217T>C (p.Leu406Pro) c.1166T>C (p.Leu389Pro) c.1085T>C (p.Leu362Pro) n.1469T>C | |
X | g.18604141T>G | CA412359978 | CDKL5 | c.1217T>G (p.Leu406Arg) c.1166T>G (p.Leu389Arg) c.1085T>G (p.Leu362Arg) n.1469T>G | |
X | g.18604142T>A | CA515627638 | CDKL5 | c.1218T>A (p.Leu406=) c.1167T>A (p.Leu389=) c.1086T>A (p.Leu362=) n.1470T>A | |
X | g.18604142T>C | CA515627637 | CDKL5 | c.1218T>C (p.Leu406=) c.1167T>C (p.Leu389=) c.1086T>C (p.Leu362=) n.1470T>C | |
X | g.18604142T>G | CA515627640 | CDKL5 | c.1218T>G (p.Leu406=) c.1167T>G (p.Leu389=) c.1086T>G (p.Leu362=) n.1470T>G | |
X | g.18604143A>C | CA412359979 | CDKL5 | c.1219A>C (p.Ser407Arg) c.1168A>C (p.Ser390Arg) c.1087A>C (p.Ser363Arg) n.1471A>C | |
X | g.18604143A>G | CA412359980 | CDKL5 | c.1219A>G (p.Ser407Gly) c.1168A>G (p.Ser390Gly) c.1087A>G (p.Ser363Gly) n.1471A>G | |
X | g.18604143A>T | CA412359981 | CDKL5 | c.1219A>T (p.Ser407Cys) c.1168A>T (p.Ser390Cys) c.1087A>T (p.Ser363Cys) n.1471A>T | |
X | g.18604144G>A | CA412359984 | CDKL5 | c.1220G>A (p.Ser407Asn) c.1169G>A (p.Ser390Asn) c.1088G>A (p.Ser363Asn) n.1472G>A | |
X | g.18604144G>C | CA412359987 | CDKL5 | c.1220G>C (p.Ser407Thr) c.1169G>C (p.Ser390Thr) c.1088G>C (p.Ser363Thr) n.1472G>C | |
X | g.18604144G>T | CA412359986 | CDKL5 | c.1220G>T (p.Ser407Ile) c.1169G>T (p.Ser390Ile) c.1088G>T (p.Ser363Ile) n.1472G>T | |
X | g.18604145C>A | CA412359989 | CDKL5 | c.1221C>A (p.Ser407Arg) c.1170C>A (p.Ser390Arg) c.1089C>A (p.Ser363Arg) n.1473C>A | |
X | g.18604145C>G | CA412359991 | CDKL5 | c.1221C>G (p.Ser407Arg) c.1170C>G (p.Ser390Arg) c.1089C>G (p.Ser363Arg) n.1473C>G | |
X | g.18604145C>T | CA515627645 | CDKL5 | c.1221C>T (p.Ser407=) c.1170C>T (p.Ser390=) c.1089C>T (p.Ser363=) n.1473C>T | |
X | g.18604146C>A | CA412359993 | CDKL5 | c.1222C>A (p.Pro408Thr) c.1171C>A (p.Pro391Thr) c.1090C>A (p.Pro364Thr) n.1474C>A | |
X | g.18604146C>G | CA412359994 | CDKL5 | c.1222C>G (p.Pro408Ala) c.1171C>G (p.Pro391Ala) c.1090C>G (p.Pro364Ala) n.1474C>G | |
X | g.18604146C>T | CA412359997 | CDKL5 | c.1222C>T (p.Pro408Ser) c.1171C>T (p.Pro391Ser) c.1090C>T (p.Pro364Ser) n.1474C>T | |
X | g.18604147C>A | CA412359999 | CDKL5 | c.1223C>A (p.Pro408Gln) c.1172C>A (p.Pro391Gln) c.1091C>A (p.Pro364Gln) n.1475C>A | |
X | g.18604147C>G | CA412360000 | CDKL5 | c.1223C>G (p.Pro408Arg) c.1172C>G (p.Pro391Arg) c.1091C>G (p.Pro364Arg) n.1475C>G | |
X | g.18604147C>T | CA412360002 | CDKL5 | c.1223C>T (p.Pro408Leu) c.1172C>T (p.Pro391Leu) c.1091C>T (p.Pro364Leu) n.1475C>T | |
X | g.18604148A>C | CA515627650 | CDKL5 | c.1224A>C (p.Pro408=) c.1173A>C (p.Pro391=) c.1092A>C (p.Pro364=) n.1476A>C | |
X | g.18604148A>G | CA515627651 | CDKL5 | c.1224A>G (p.Pro408=) c.1173A>G (p.Pro391=) c.1092A>G (p.Pro364=) n.1476A>G | |
X | g.18604148A>T | CA515627653 | CDKL5 | c.1224A>T (p.Pro408=) c.1173A>T (p.Pro391=) c.1092A>T (p.Pro364=) n.1476A>T | |
X | g.18604149A= | CA2417973887 | CDKL5 | c.1225A= (p.Lys409=) c.1174A= (p.Lys392=) c.1093A= (p.Lys365=) n.1477A= | |
X | g.18604149A>C | CA412360005 | CDKL5 | c.1225A>C (p.Lys409Gln) c.1174A>C (p.Lys392Gln) c.1093A>C (p.Lys365Gln) n.1477A>C | |
X | g.18604149A>G | CA10360366 | CDKL5 | c.1225A>G (p.Lys409Glu) c.1174A>G (p.Lys392Glu) c.1093A>G (p.Lys365Glu) n.1477A>G | dbSNP ExAC gnomAD v2 |
X | g.18604149A>T | CA412360007 | CDKL5 | c.1225A>T (p.Lys409Ter) c.1174A>T (p.Lys392Ter) c.1093A>T (p.Lys365Ter) n.1477A>T |