Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.18604255_18604257dup | CA2693222670 | CDKL5 | c.1331_1333dup (p.Arg444_His445insArg) c.1280_1282dup (p.Arg427_His428insArg) c.1199_1201dup (p.Arg400_His401insArg) n.1583_1585dup | gnomAD v4 |
X | g.18604254_18604266del | CA2740092029 | CDKL5 | c.1330_1342del (p.Arg444TrpfsTer?) c.1279_1291del (p.Arg427TrpfsTer?) c.1198_1210del (p.Arg400TrpfsTer?) n.1582_1594del | ClinVar |
X | g.18604257C>A | CA412360468 | CDKL5 | c.1333C>A (p.His445Asn) c.1282C>A (p.His428Asn) c.1201C>A (p.His401Asn) n.1585C>A | |
X | g.18604257C>G | CA412360467 | CDKL5 | c.1333C>G (p.His445Asp) c.1282C>G (p.His428Asp) c.1201C>G (p.His401Asp) n.1585C>G | |
X | g.18604257C>T | CA412360466 | CDKL5 | c.1333C>T (p.His445Tyr) c.1282C>T (p.His428Tyr) c.1201C>T (p.His401Tyr) n.1585C>T | gnomAD v4 |
X | g.18604258A>C | CA412360471 | CDKL5 | c.1334A>C (p.His445Pro) c.1283A>C (p.His428Pro) c.1202A>C (p.His401Pro) n.1586A>C | |
X | g.18604258A>G | CA412360474 | CDKL5 | c.1334A>G (p.His445Arg) c.1283A>G (p.His428Arg) c.1202A>G (p.His401Arg) n.1586A>G | |
X | g.18604258A>T | CA412360475 | CDKL5 | c.1334A>T (p.His445Leu) c.1283A>T (p.His428Leu) c.1202A>T (p.His401Leu) n.1586A>T | |
X | g.18604258_18604259insAACACACCCAA | CA2819902109 | CDKL5 | c.1334_1335insAACACACCCAA (p.His445GlnfsTer?) c.1283_1284insAACACACCCAA (p.His428GlnfsTer?) c.1202_1203insAACACACCCAA (p.His401GlnfsTer?) n.1586_1587insAACACACCCAA | |
X | g.18604259_18604260insCAAACACACCCAAC | CA2819902110 | CDKL5 | c.1335_1336insCAAACACACCCAAC (p.Ser446GlnfsTer?) c.1284_1285insCAAACACACCCAAC (p.Ser429GlnfsTer?) c.1203_1204insCAAACACACCCAAC (p.Ser402GlnfsTer?) n.1587_1588insCAAACACACCCAAC | |
X | g.18604259C>A | CA412360476 | CDKL5 | c.1335C>A (p.His445Gln) c.1284C>A (p.His428Gln) c.1203C>A (p.His401Gln) n.1587C>A | |
X | g.18604259C>G | CA412360477 | CDKL5 | c.1335C>G (p.His445Gln) c.1284C>G (p.His428Gln) c.1203C>G (p.His401Gln) n.1587C>G | |
X | g.18604259C>T | CA515627680 | CDKL5 | c.1335C>T (p.His445=) c.1284C>T (p.His428=) c.1203C>T (p.His401=) n.1587C>T | gnomAD v4 |
X | g.18604260T>A | CA412360478 | CDKL5 | c.1336T>A (p.Ser446Thr) c.1285T>A (p.Ser429Thr) c.1204T>A (p.Ser402Thr) n.1588T>A | |
X | g.18604260T>C | CA412360480 | CDKL5 | c.1336T>C (p.Ser446Pro) c.1285T>C (p.Ser429Pro) c.1204T>C (p.Ser402Pro) n.1588T>C | |
X | g.18604260T>G | CA412360482 | CDKL5 | c.1336T>G (p.Ser446Ala) c.1285T>G (p.Ser429Ala) c.1204T>G (p.Ser402Ala) n.1588T>G | |
X | g.18604261C>A | CA412360484 | CDKL5 | c.1337C>A (p.Ser446Ter) c.1286C>A (p.Ser429Ter) c.1205C>A (p.Ser402Ter) n.1589C>A | |
X | g.18604261C= | CA2417974030 | CDKL5 | c.1337C= (p.Ser446=) c.1286C= (p.Ser429=) c.1205C= (p.Ser402=) n.1589C= | |
X | g.18604261C>G | CA412360485 | CDKL5 | c.1337C>G (p.Ser446Ter) c.1286C>G (p.Ser429Ter) c.1205C>G (p.Ser402Ter) n.1589C>G | |
X | g.18604261C>T | CA412360487 | CDKL5 | c.1337C>T (p.Ser446Leu) c.1286C>T (p.Ser429Leu) c.1205C>T (p.Ser402Leu) n.1589C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18604262A= | CA2417974035 | CDKL5 | c.1338A= (p.Ser446=) c.1287A= (p.Ser429=) c.1206A= (p.Ser402=) n.1590A= | |
X | g.18604262A>C | CA515627689 | CDKL5 | c.1338A>C (p.Ser446=) c.1287A>C (p.Ser429=) c.1206A>C (p.Ser402=) n.1590A>C | |
X | g.18604262A>G | CA515627690 | CDKL5 | c.1338A>G (p.Ser446=) c.1287A>G (p.Ser429=) c.1206A>G (p.Ser402=) n.1590A>G | |
X | g.18604262A>T | CA10360374 | CDKL5 | c.1338A>T (p.Ser446=) c.1287A>T (p.Ser429=) c.1206A>T (p.Ser402=) n.1590A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604263T>A | CA412360489 | CDKL5 | c.1339T>A (p.Phe447Ile) c.1288T>A (p.Phe430Ile) c.1207T>A (p.Phe403Ile) n.1591T>A | |
X | g.18604263T>C | CA10360375 | CDKL5 | c.1339T>C (p.Phe447Leu) c.1288T>C (p.Phe430Leu) c.1207T>C (p.Phe403Leu) n.1591T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604263T>G | CA412360491 | CDKL5 | c.1339T>G (p.Phe447Val) c.1288T>G (p.Phe430Val) c.1207T>G (p.Phe403Val) n.1591T>G | |
X | g.18604263T= | CA2417974038 | CDKL5 | c.1339T= (p.Phe447=) c.1288T= (p.Phe430=) c.1207T= (p.Phe403=) n.1591T= | |
X | g.18604264T>A | CA412360493 | CDKL5 | c.1340T>A (p.Phe447Tyr) c.1289T>A (p.Phe430Tyr) c.1208T>A (p.Phe403Tyr) n.1592T>A | |
X | g.18604264T>C | CA412360500 | CDKL5 | c.1340T>C (p.Phe447Ser) c.1289T>C (p.Phe430Ser) c.1208T>C (p.Phe403Ser) n.1592T>C | |
X | g.18604264T>G | CA10360376 | CDKL5 | c.1340T>G (p.Phe447Cys) c.1289T>G (p.Phe430Cys) c.1208T>G (p.Phe403Cys) n.1592T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604264T= | CA2417974043 | CDKL5 | c.1340T= (p.Phe447=) c.1289T= (p.Phe430=) c.1208T= (p.Phe403=) n.1592T= | |
X | g.18604264_18604265delinsTC | CA2417974041 | CDKL5 | c.1340_1341delinsTC (p.Phe447=) c.1289_1290delinsTC (p.Phe430=) c.1208_1209delinsTC (p.Phe403=) n.1592_1593delinsTC | |
X | g.18604265del | CA199376 | CDKL5 | c.1341del (p.Phe447LeufsTer?) c.1290del (p.Phe430LeufsTer?) c.1209del (p.Phe403LeufsTer?) n.1593del | ClinVar dbSNP |
X | g.18604265C>A | CA412360501 | CDKL5 | c.1341C>A (p.Phe447Leu) c.1290C>A (p.Phe430Leu) c.1209C>A (p.Phe403Leu) n.1593C>A | gnomAD v4 |
X | g.18604265C>G | CA412360504 | CDKL5 | c.1341C>G (p.Phe447Leu) c.1290C>G (p.Phe430Leu) c.1209C>G (p.Phe403Leu) n.1593C>G | |
X | g.18604265C>T | CA515627695 | CDKL5 | c.1341C>T (p.Phe447=) c.1290C>T (p.Phe430=) c.1209C>T (p.Phe403=) n.1593C>T | |
X | g.18604266A= | CA2417974051 | CDKL5 | c.1342A= (p.Met448=) c.1291A= (p.Met431=) c.1210A= (p.Met404=) n.1594A= | |
X | g.18604266A>C | CA412360507 | CDKL5 | c.1342A>C (p.Met448Leu) c.1291A>C (p.Met431Leu) c.1210A>C (p.Met404Leu) n.1594A>C | |
X | g.18604266A>G | CA412360508 | CDKL5 | c.1342A>G (p.Met448Val) c.1291A>G (p.Met431Val) c.1210A>G (p.Met404Val) n.1594A>G | ClinVar dbSNP |
X | g.18604266A>T | CA412360510 | CDKL5 | c.1342A>T (p.Met448Leu) c.1291A>T (p.Met431Leu) c.1210A>T (p.Met404Leu) n.1594A>T | |
X | g.18604267T>A | CA412360511 | CDKL5 | c.1343T>A (p.Met448Lys) c.1292T>A (p.Met431Lys) c.1211T>A (p.Met404Lys) n.1595T>A | |
X | g.18604267T>C | CA412360512 | CDKL5 | c.1343T>C (p.Met448Thr) c.1292T>C (p.Met431Thr) c.1211T>C (p.Met404Thr) n.1595T>C | |
X | g.18604267T>G | CA412360513 | CDKL5 | c.1343T>G (p.Met448Arg) c.1292T>G (p.Met431Arg) c.1211T>G (p.Met404Arg) n.1595T>G | |
X | g.18604267_18604286delinsTGGAAAGCTCTCAAAGCAAA | CA2417974056 | CDKL5 | c.1343_1362delinsTGGAAAGCTCTCAAAGCAAA (p.Met448=) c.1292_1311delinsTGGAAAGCTCTCAAAGCAAA (p.Met431=) c.1211_1230delinsTGGAAAGCTCTCAAAGCAAA (p.Met404=) n.1595_1614delinsTGGAAAGCTCTCAAAGCAAA | |
X | g.18604268G>A | CA412360517 | CDKL5 | c.1344G>A (p.Met448Ile) c.1293G>A (p.Met431Ile) c.1212G>A (p.Met404Ile) n.1596G>A | ClinVar dbSNP |
X | g.18604268G>C | CA412360518 | CDKL5 | c.1344G>C (p.Met448Ile) c.1293G>C (p.Met431Ile) c.1212G>C (p.Met404Ile) n.1596G>C | |
X | g.18604268G= | CA2417974065 | CDKL5 | c.1344G= (p.Met448=) c.1293G= (p.Met431=) c.1212G= (p.Met404=) n.1596G= | |
X | g.18604268G>T | CA412360520 | CDKL5 | c.1344G>T (p.Met448Ile) c.1293G>T (p.Met431Ile) c.1212G>T (p.Met404Ile) n.1596G>T | |
X | g.18604268_18604270delinsGGA | CA2417974063 | CDKL5 | c.1344_1346delinsGGA (p.Met448=) c.1293_1295delinsGGA (p.Met431=) c.1212_1214delinsGGA (p.Met404=) n.1596_1598delinsGGA | |
X | g.18604269_18604287del | CA294680 | CDKL5 | c.1345_1363del (p.Glu449LeufsTer?) c.1294_1312del (p.Glu432LeufsTer?) c.1213_1231del (p.Glu405LeufsTer?) n.1597_1615del | ClinVar dbSNP |
X | g.18604269G>A | CA412360529 | CDKL5 | c.1345G>A (p.Glu449Lys) c.1294G>A (p.Glu432Lys) c.1213G>A (p.Glu405Lys) n.1597G>A | |
X | g.18604269G>C | CA412360525 | CDKL5 | c.1345G>C (p.Glu449Gln) c.1294G>C (p.Glu432Gln) c.1213G>C (p.Glu405Gln) n.1597G>C | |
X | g.18604269G= | CA2417974074 | CDKL5 | c.1345G= (p.Glu449=) c.1294G= (p.Glu432=) c.1213G= (p.Glu405=) n.1597G= | |
X | g.18604269G>T | CA412360527 | CDKL5 | c.1345G>T (p.Glu449Ter) c.1294G>T (p.Glu432Ter) c.1213G>T (p.Glu405Ter) n.1597G>T | ClinVar dbSNP |
X | g.18604269_18604270del | CA171610 | CDKL5 | c.1345_1346del (p.Glu449LysfsTer13) c.1294_1295del (p.Glu432LysfsTer13) c.1213_1214del (p.Glu405LysfsTer13) n.1597_1598del | ClinVar dbSNP |
X | g.18604270A>C | CA412360531 | CDKL5 | c.1346A>C (p.Glu449Ala) c.1295A>C (p.Glu432Ala) c.1214A>C (p.Glu405Ala) n.1598A>C | |
X | g.18604270A>G | CA412360532 | CDKL5 | c.1346A>G (p.Glu449Gly) c.1295A>G (p.Glu432Gly) c.1214A>G (p.Glu405Gly) n.1598A>G | |
X | g.18604270A>T | CA412360535 | CDKL5 | c.1346A>T (p.Glu449Val) c.1295A>T (p.Glu432Val) c.1214A>T (p.Glu405Val) n.1598A>T | |
X | g.18604271A= | CA2417974077 | CDKL5 | c.1347A= (p.Glu449=) c.1296A= (p.Glu432=) c.1215A= (p.Glu405=) n.1599A= | |
X | g.18604271A>C | CA412360537 | CDKL5 | c.1347A>C (p.Glu449Asp) c.1296A>C (p.Glu432Asp) c.1215A>C (p.Glu405Asp) n.1599A>C | |
X | g.18604271A>G | CA326987778 | CDKL5 | c.1347A>G (p.Glu449=) c.1296A>G (p.Glu432=) c.1215A>G (p.Glu405=) n.1599A>G | dbSNP |
X | g.18604271A>T | CA412360539 | CDKL5 | c.1347A>T (p.Glu449Asp) c.1296A>T (p.Glu432Asp) c.1215A>T (p.Glu405Asp) n.1599A>T | |
X | g.18604272A>C | CA412360541 | CDKL5 | c.1348A>C (p.Ser450Arg) c.1297A>C (p.Ser433Arg) c.1216A>C (p.Ser406Arg) n.1600A>C | |
X | g.18604272A>G | CA412360543 | CDKL5 | c.1348A>G (p.Ser450Gly) c.1297A>G (p.Ser433Gly) c.1216A>G (p.Ser406Gly) n.1600A>G | gnomAD v4 |
X | g.18604272A>T | CA412360545 | CDKL5 | c.1348A>T (p.Ser450Cys) c.1297A>T (p.Ser433Cys) c.1216A>T (p.Ser406Cys) n.1600A>T | |
X | g.18604273G>A | CA412360552 | CDKL5 | c.1349G>A (p.Ser450Asn) c.1298G>A (p.Ser433Asn) c.1217G>A (p.Ser406Asn) n.1601G>A | dbSNP |
X | g.18604273G>C | CA412360550 | CDKL5 | c.1349G>C (p.Ser450Thr) c.1298G>C (p.Ser433Thr) c.1217G>C (p.Ser406Thr) n.1601G>C | |
X | g.18604273G= | CA2417974082 | CDKL5 | c.1349G= (p.Ser450=) c.1298G= (p.Ser433=) c.1217G= (p.Ser406=) n.1601G= | |
X | g.18604273G>T | CA412360548 | CDKL5 | c.1349G>T (p.Ser450Ile) c.1298G>T (p.Ser433Ile) c.1217G>T (p.Ser406Ile) n.1601G>T | gnomAD v4 |
X | g.18604274C>A | CA412360553 | CDKL5 | c.1350C>A (p.Ser450Arg) c.1299C>A (p.Ser433Arg) c.1218C>A (p.Ser406Arg) n.1602C>A | |
X | g.18604274C>G | CA412360554 | CDKL5 | c.1350C>G (p.Ser450Arg) c.1299C>G (p.Ser433Arg) c.1218C>G (p.Ser406Arg) n.1602C>G | |
X | g.18604274C>T | CA515627711 | CDKL5 | c.1350C>T (p.Ser450=) c.1299C>T (p.Ser433=) c.1218C>T (p.Ser406=) n.1602C>T | |
X | g.18604275T>A | CA412360555 | CDKL5 | c.1351T>A (p.Ser451Thr) c.1300T>A (p.Ser434Thr) c.1219T>A (p.Ser407Thr) n.1603T>A | |
X | g.18604275T>C | CA412360556 | CDKL5 | c.1351T>C (p.Ser451Pro) c.1300T>C (p.Ser434Pro) c.1219T>C (p.Ser407Pro) n.1603T>C | gnomAD v4 |
X | g.18604275T>G | CA412360557 | CDKL5 | c.1351T>G (p.Ser451Ala) c.1300T>G (p.Ser434Ala) c.1219T>G (p.Ser407Ala) n.1603T>G | |
X | g.18604276C>A | CA412360558 | CDKL5 | c.1352C>A (p.Ser451Tyr) c.1301C>A (p.Ser434Tyr) c.1220C>A (p.Ser407Tyr) n.1604C>A | |
X | g.18604276C>G | CA412360559 | CDKL5 | c.1352C>G (p.Ser451Cys) c.1301C>G (p.Ser434Cys) c.1220C>G (p.Ser407Cys) n.1604C>G | |
X | g.18604276C>T | CA412360561 | CDKL5 | c.1352C>T (p.Ser451Phe) c.1301C>T (p.Ser434Phe) c.1220C>T (p.Ser407Phe) n.1604C>T | |
X | g.18604277T>A | CA515627718 | CDKL5 | c.1353T>A (p.Ser451=) c.1302T>A (p.Ser434=) c.1221T>A (p.Ser407=) n.1605T>A | |
X | g.18604277T>C | CA515627723 | CDKL5 | c.1353T>C (p.Ser451=) c.1302T>C (p.Ser434=) c.1221T>C (p.Ser407=) n.1605T>C | |
X | g.18604277T>G | CA515627725 | CDKL5 | c.1353T>G (p.Ser451=) c.1302T>G (p.Ser434=) c.1221T>G (p.Ser407=) n.1605T>G | |
X | g.18604278C>A | CA412360563 | CDKL5 | c.1354C>A (p.Gln452Lys) c.1303C>A (p.Gln435Lys) c.1222C>A (p.Gln408Lys) n.1606C>A | |
X | g.18604278C= | CA2417974086 | CDKL5 | c.1354C= (p.Gln452=) c.1303C= (p.Gln435=) c.1222C= (p.Gln408=) n.1606C= | |
X | g.18604278C>G | CA412360564 | CDKL5 | c.1354C>G (p.Gln452Glu) c.1303C>G (p.Gln435Glu) c.1222C>G (p.Gln408Glu) n.1606C>G | gnomAD v4 |
X | g.18604278C>T | CA412360565 | CDKL5 | c.1354C>T (p.Gln452Ter) c.1303C>T (p.Gln435Ter) c.1222C>T (p.Gln408Ter) n.1606C>T | ClinVar dbSNP |
X | g.18604279A>C | CA412360571 | CDKL5 | c.1355A>C (p.Gln452Pro) c.1304A>C (p.Gln435Pro) c.1223A>C (p.Gln408Pro) n.1607A>C | |
X | g.18604279A>G | CA412360570 | CDKL5 | c.1355A>G (p.Gln452Arg) c.1304A>G (p.Gln435Arg) c.1223A>G (p.Gln408Arg) n.1607A>G | |
X | g.18604279A>T | CA412360568 | CDKL5 | c.1355A>T (p.Gln452Leu) c.1304A>T (p.Gln435Leu) c.1223A>T (p.Gln408Leu) n.1607A>T | |
X | g.18604280A>C | CA412360572 | CDKL5 | c.1356A>C (p.Gln452His) c.1305A>C (p.Gln435His) c.1224A>C (p.Gln408His) n.1608A>C | |
X | g.18604280A>G | CA515627727 | CDKL5 | c.1356A>G (p.Gln452=) c.1305A>G (p.Gln435=) c.1224A>G (p.Gln408=) n.1608A>G | |
X | g.18604280A>T | CA412360573 | CDKL5 | c.1356A>T (p.Gln452His) c.1305A>T (p.Gln435His) c.1224A>T (p.Gln408His) n.1608A>T | |
X | g.18604281A>C | CA412360574 | CDKL5 | c.1357A>C (p.Ser453Arg) c.1306A>C (p.Ser436Arg) c.1225A>C (p.Ser409Arg) n.1609A>C | |
X | g.18604281A>G | CA412360575 | CDKL5 | c.1357A>G (p.Ser453Gly) c.1306A>G (p.Ser436Gly) c.1225A>G (p.Ser409Gly) n.1609A>G | |
X | g.18604281A>T | CA412360576 | CDKL5 | c.1357A>T (p.Ser453Cys) c.1306A>T (p.Ser436Cys) c.1225A>T (p.Ser409Cys) n.1609A>T | |
X | g.18604282G>A | CA412360578 | CDKL5 | c.1358G>A (p.Ser453Asn) c.1307G>A (p.Ser436Asn) c.1226G>A (p.Ser409Asn) n.1610G>A | gnomAD v4 |
X | g.18604282G>C | CA412360580 | CDKL5 | c.1358G>C (p.Ser453Thr) c.1307G>C (p.Ser436Thr) c.1226G>C (p.Ser409Thr) n.1610G>C | |
X | g.18604282G>T | CA412360582 | CDKL5 | c.1358G>T (p.Ser453Ile) c.1307G>T (p.Ser436Ile) c.1226G>T (p.Ser409Ile) n.1610G>T | |
X | g.18604283C>A | CA412360583 | CDKL5 | c.1359C>A (p.Ser453Arg) c.1308C>A (p.Ser436Arg) c.1227C>A (p.Ser409Arg) n.1611C>A | |
X | g.18604283C>G | CA412360585 | CDKL5 | c.1359C>G (p.Ser453Arg) c.1308C>G (p.Ser436Arg) c.1227C>G (p.Ser409Arg) n.1611C>G | |
X | g.18604283C>T | CA515627733 | CDKL5 | c.1359C>T (p.Ser453=) c.1308C>T (p.Ser436=) c.1227C>T (p.Ser409=) n.1611C>T | |
X | g.18604284A= | CA2417974088 | CDKL5 | c.1360A= (p.Lys454=) c.1309A= (p.Lys437=) c.1228A= (p.Lys410=) n.1612A= | |
X | g.18604284A>C | CA412360586 | CDKL5 | c.1360A>C (p.Lys454Gln) c.1309A>C (p.Lys437Gln) c.1228A>C (p.Lys410Gln) n.1612A>C | |
X | g.18604284A>G | CA412360587 | CDKL5 | c.1360A>G (p.Lys454Glu) c.1309A>G (p.Lys437Glu) c.1228A>G (p.Lys410Glu) n.1612A>G | dbSNP |
X | g.18604284A>T | CA412360591 | CDKL5 | c.1360A>T (p.Lys454Ter) c.1309A>T (p.Lys437Ter) c.1228A>T (p.Lys410Ter) n.1612A>T | |
X | g.18604285A>C | CA412360595 | CDKL5 | c.1361A>C (p.Lys454Thr) c.1310A>C (p.Lys437Thr) c.1229A>C (p.Lys410Thr) n.1613A>C | |
X | g.18604285A>G | CA412360594 | CDKL5 | c.1361A>G (p.Lys454Arg) c.1310A>G (p.Lys437Arg) c.1229A>G (p.Lys410Arg) n.1613A>G | |
X | g.18604285A>T | CA412360593 | CDKL5 | c.1361A>T (p.Lys454Ile) c.1310A>T (p.Lys437Ile) c.1229A>T (p.Lys410Ile) n.1613A>T | |
X | g.18604286A>C | CA412360598 | CDKL5 | c.1362A>C (p.Lys454Asn) c.1311A>C (p.Lys437Asn) c.1230A>C (p.Lys410Asn) n.1614A>C | |
X | g.18604286A>G | CA515627738 | CDKL5 | c.1362A>G (p.Lys454=) c.1311A>G (p.Lys437=) c.1230A>G (p.Lys410=) n.1614A>G | COSMIC |
X | g.18604286A>T | CA412360596 | CDKL5 | c.1362A>T (p.Lys454Asn) c.1311A>T (p.Lys437Asn) c.1230A>T (p.Lys410Asn) n.1614A>T | |
X | g.18604286_18604287insCACACCCAACACA | CA2819902123 | CDKL5 | c.1362_1363insCACACCCAACACA (p.Ala455HisfsTer12) c.1311_1312insCACACCCAACACA (p.Ala438HisfsTer12) c.1230_1231insCACACCCAACACA (p.Ala411HisfsTer12) n.1614_1615insCACACCCAACACA | |
X | g.18604287G>A | CA412360602 | CDKL5 | c.1363G>A (p.Ala455Thr) c.1312G>A (p.Ala438Thr) c.1231G>A (p.Ala411Thr) n.1615G>A | COSMIC |
X | g.18604287G>C | CA412360600 | CDKL5 | c.1363G>C (p.Ala455Pro) c.1312G>C (p.Ala438Pro) c.1231G>C (p.Ala411Pro) n.1615G>C | gnomAD v4 |
X | g.18604287G>T | CA412360604 | CDKL5 | c.1363G>T (p.Ala455Ser) c.1312G>T (p.Ala438Ser) c.1231G>T (p.Ala411Ser) n.1615G>T | |
X | g.18604288C>A | CA412360606 | CDKL5 | c.1364C>A (p.Ala455Asp) c.1313C>A (p.Ala438Asp) c.1232C>A (p.Ala411Asp) n.1616C>A | |
X | g.18604288C>G | CA412360608 | CDKL5 | c.1364C>G (p.Ala455Gly) c.1313C>G (p.Ala438Gly) c.1232C>G (p.Ala411Gly) n.1616C>G | |
X | g.18604288C>T | CA412360609 | CDKL5 | c.1364C>T (p.Ala455Val) c.1313C>T (p.Ala438Val) c.1232C>T (p.Ala411Val) n.1616C>T | gnomAD v4 |
X | g.18604289T>A | CA515627754 | CDKL5 | c.1365T>A (p.Ala455=) c.1314T>A (p.Ala438=) c.1233T>A (p.Ala411=) n.1617T>A | |
X | g.18604289T>C | CA515627752 | CDKL5 | c.1365T>C (p.Ala455=) c.1314T>C (p.Ala438=) c.1233T>C (p.Ala411=) n.1617T>C | |
X | g.18604289T>G | CA515627751 | CDKL5 | c.1365T>G (p.Ala455=) c.1314T>G (p.Ala438=) c.1233T>G (p.Ala411=) n.1617T>G | |
X | g.18604289T= | CA2417974090 | CDKL5 | c.1365T= (p.Ala455=) c.1314T= (p.Ala438=) c.1233T= (p.Ala411=) n.1617T= | |
X | g.18604289_18604290insA | CA10606737 | CDKL5 | c.1365_1366insA (p.Gly456ArgfsTer7) c.1314_1315insA (p.Gly439ArgfsTer7) c.1233_1234insA (p.Gly412ArgfsTer7) n.1617_1618insA | ClinVar dbSNP |
X | g.18604290G>A | CA412360611 | CDKL5 | c.1366G>A (p.Gly456Arg) c.1315G>A (p.Gly439Arg) c.1234G>A (p.Gly412Arg) n.1618G>A | |
X | g.18604290G>C | CA412360613 | CDKL5 | c.1366G>C (p.Gly456Arg) c.1315G>C (p.Gly439Arg) c.1234G>C (p.Gly412Arg) n.1618G>C | |
X | g.18604290G>T | CA412360615 | CDKL5 | c.1366G>T (p.Gly456Trp) c.1315G>T (p.Gly439Trp) c.1234G>T (p.Gly412Trp) n.1618G>T | |
X | g.18604291G>A | CA412360616 | CDKL5 | c.1367G>A (p.Gly456Glu) c.1316G>A (p.Gly439Glu) c.1235G>A (p.Gly412Glu) n.1619G>A | COSMIC |
X | g.18604291G>C | CA10360377 | CDKL5 | c.1367G>C (p.Gly456Ala) c.1316G>C (p.Gly439Ala) c.1235G>C (p.Gly412Ala) n.1619G>C | dbSNP ExAC gnomAD v3 gnomAD v4 |
X | g.18604291G= | CA2417974097 | CDKL5 | c.1367G= (p.Gly456=) c.1316G= (p.Gly439=) c.1235G= (p.Gly412=) n.1619G= | |
X | g.18604291G>T | CA412360617 | CDKL5 | c.1367G>T (p.Gly456Val) c.1316G>T (p.Gly439Val) c.1235G>T (p.Gly412Val) n.1619G>T | |
X | g.18604292G>A | CA515627766 | CDKL5 | c.1368G>A (p.Gly456=) c.1317G>A (p.Gly439=) c.1236G>A (p.Gly412=) n.1620G>A | |
X | g.18604292G>C | CA515627767 | CDKL5 | c.1368G>C (p.Gly456=) c.1317G>C (p.Gly439=) c.1236G>C (p.Gly412=) n.1620G>C | |
X | g.18604292G>T | CA515627768 | CDKL5 | c.1368G>T (p.Gly456=) c.1317G>T (p.Gly439=) c.1236G>T (p.Gly412=) n.1620G>T | |
X | g.18604293A>C | CA412360618 | CDKL5 | c.1369A>C (p.Thr457Pro) c.1318A>C (p.Thr440Pro) c.1237A>C (p.Thr413Pro) n.1621A>C | |
X | g.18604293A>G | CA412360619 | CDKL5 | c.1369A>G (p.Thr457Ala) c.1318A>G (p.Thr440Ala) c.1237A>G (p.Thr413Ala) n.1621A>G | |
X | g.18604293A>T | CA412360620 | CDKL5 | c.1369A>T (p.Thr457Ser) c.1318A>T (p.Thr440Ser) c.1237A>T (p.Thr413Ser) n.1621A>T | |
X | g.18604294C>A | CA412360621 | CDKL5 | c.1370C>A (p.Thr457Lys) c.1319C>A (p.Thr440Lys) c.1238C>A (p.Thr413Lys) n.1622C>A | |
X | g.18604294C>G | CA412360624 | CDKL5 | c.1370C>G (p.Thr457Arg) c.1319C>G (p.Thr440Arg) c.1238C>G (p.Thr413Arg) n.1622C>G | |
X | g.18604294C>T | CA412360622 | CDKL5 | c.1370C>T (p.Thr457Ile) c.1319C>T (p.Thr440Ile) c.1238C>T (p.Thr413Ile) n.1622C>T | |
X | g.18604295A>C | CA515627775 | CDKL5 | c.1371A>C (p.Thr457=) c.1320A>C (p.Thr440=) c.1239A>C (p.Thr413=) n.1623A>C | |
X | g.18604295A>G | CA515627777 | CDKL5 | c.1371A>G (p.Thr457=) c.1320A>G (p.Thr440=) c.1239A>G (p.Thr413=) n.1623A>G | gnomAD v4 |
X | g.18604295A>T | CA515627779 | CDKL5 | c.1371A>T (p.Thr457=) c.1320A>T (p.Thr440=) c.1239A>T (p.Thr413=) n.1623A>T | |
X | g.18604295dup | CA2695231319 | CDKL5 | c.1371dup (p.Leu458ThrfsTer5) c.1320dup (p.Leu441ThrfsTer5) c.1239dup (p.Leu414ThrfsTer5) n.1623dup | |
X | g.18604296C>A | CA412360626 | CDKL5 | c.1372C>A (p.Leu458Met) c.1321C>A (p.Leu441Met) c.1240C>A (p.Leu414Met) n.1624C>A | |
X | g.18604296C>G | CA412360628 | CDKL5 | c.1372C>G (p.Leu458Val) c.1321C>G (p.Leu441Val) c.1240C>G (p.Leu414Val) n.1624C>G | |
X | g.18604296C>T | CA515627782 | CDKL5 | c.1372C>T (p.Leu458=) c.1321C>T (p.Leu441=) c.1240C>T (p.Leu414=) n.1624C>T | |
X | g.18604297T>A | CA412360630 | CDKL5 | c.1373T>A (p.Leu458Gln) c.1322T>A (p.Leu441Gln) c.1241T>A (p.Leu414Gln) n.1625T>A | |
X | g.18604297T>C | CA412360632 | CDKL5 | c.1373T>C (p.Leu458Pro) c.1322T>C (p.Leu441Pro) c.1241T>C (p.Leu414Pro) n.1625T>C | |
X | g.18604297T>G | CA412360639 | CDKL5 | c.1373T>G (p.Leu458Arg) c.1322T>G (p.Leu441Arg) c.1241T>G (p.Leu414Arg) n.1625T>G | |
X | g.18604298G>A | CA515627786 | CDKL5 | c.1374G>A (p.Leu458=) c.1323G>A (p.Leu441=) c.1242G>A (p.Leu414=) n.1626G>A | |
X | g.18604298G>C | CA515627787 | CDKL5 | c.1374G>C (p.Leu458=) c.1323G>C (p.Leu441=) c.1242G>C (p.Leu414=) n.1626G>C | |
X | g.18604298G>T | CA515627788 | CDKL5 | c.1374G>T (p.Leu458=) c.1323G>T (p.Leu441=) c.1242G>T (p.Leu414=) n.1626G>T | |
X | g.18604299C>A | CA412360641 | CDKL5 | c.1375C>A (p.Gln459Lys) c.1324C>A (p.Gln442Lys) c.1243C>A (p.Gln415Lys) n.1627C>A | |
X | g.18604299C= | CA2417974101 | CDKL5 | c.1375C= (p.Gln459=) c.1324C= (p.Gln442=) c.1243C= (p.Gln415=) n.1627C= | |
X | g.18604299C>G | CA412360643 | CDKL5 | c.1375C>G (p.Gln459Glu) c.1324C>G (p.Gln442Glu) c.1243C>G (p.Gln415Glu) n.1627C>G | |
X | g.18604299C>T | CA199377 | CDKL5 | c.1375C>T (p.Gln459Ter) c.1324C>T (p.Gln442Ter) c.1243C>T (p.Gln415Ter) n.1627C>T | ClinVar dbSNP |
X | g.18604300A>C | CA412360646 | CDKL5 | c.1376A>C (p.Gln459Pro) c.1325A>C (p.Gln442Pro) c.1244A>C (p.Gln415Pro) n.1628A>C | |
X | g.18604300A>G | CA412360648 | CDKL5 | c.1376A>G (p.Gln459Arg) c.1325A>G (p.Gln442Arg) c.1244A>G (p.Gln415Arg) n.1628A>G | |
X | g.18604300A>T | CA412360649 | CDKL5 | c.1376A>T (p.Gln459Leu) c.1325A>T (p.Gln442Leu) c.1244A>T (p.Gln415Leu) n.1628A>T | |
X | g.18604301G>A | CA515627793 | CDKL5 | c.1377G>A (p.Gln459=) c.1326G>A (p.Gln442=) c.1245G>A (p.Gln415=) n.1629G>A | ClinVar dbSNP gnomAD v4 |
X | g.18604301G>C | CA412360651 | CDKL5 | c.1377G>C (p.Gln459His) c.1326G>C (p.Gln442His) c.1245G>C (p.Gln415His) n.1629G>C | |
X | g.18604301G>T | CA412360650 | CDKL5 | c.1377G>T (p.Gln459His) c.1326G>T (p.Gln442His) c.1245G>T (p.Gln415His) n.1629G>T | |
X | g.18604302C>A | CA412360652 | CDKL5 | c.1378C>A (p.Pro460Thr) c.1327C>A (p.Pro443Thr) c.1246C>A (p.Pro416Thr) n.1630C>A | |
X | g.18604302C= | CA2417974104 | CDKL5 | c.1378C= (p.Pro460=) c.1327C= (p.Pro443=) c.1246C= (p.Pro416=) n.1630C= | |
X | g.18604302C>G | CA412360653 | CDKL5 | c.1378C>G (p.Pro460Ala) c.1327C>G (p.Pro443Ala) c.1246C>G (p.Pro416Ala) n.1630C>G | |
X | g.18604302C>T | CA326987784 | CDKL5 | c.1378C>T (p.Pro460Ser) c.1327C>T (p.Pro443Ser) c.1246C>T (p.Pro416Ser) n.1630C>T | dbSNP |
X | g.18604303C>A | CA412360655 | CDKL5 | c.1379C>A (p.Pro460His) c.1328C>A (p.Pro443His) c.1247C>A (p.Pro416His) n.1631C>A | gnomAD v4 |
X | g.18604303C>G | CA412360656 | CDKL5 | c.1379C>G (p.Pro460Arg) c.1328C>G (p.Pro443Arg) c.1247C>G (p.Pro416Arg) n.1631C>G | |
X | g.18604303C>T | CA412360657 | CDKL5 | c.1379C>T (p.Pro460Leu) c.1328C>T (p.Pro443Leu) c.1247C>T (p.Pro416Leu) n.1631C>T | |
X | g.18604304C>A | CA515627805 | CDKL5 | c.1380C>A (p.Pro460=) c.1329C>A (p.Pro443=) c.1248C>A (p.Pro416=) n.1632C>A | |
X | g.18604304C>G | CA515627806 | CDKL5 | c.1380C>G (p.Pro460=) c.1329C>G (p.Pro443=) c.1248C>G (p.Pro416=) n.1632C>G | |
X | g.18604304C>T | CA515627804 | CDKL5 | c.1380C>T (p.Pro460=) c.1329C>T (p.Pro443=) c.1248C>T (p.Pro416=) n.1632C>T | |
X | g.18604305A= | CA2417974107 | CDKL5 | c.1381A= (p.Asn461=) c.1330A= (p.Asn444=) c.1249A= (p.Asn417=) n.1633A= | |
X | g.18604305A>C | CA412360659 | CDKL5 | c.1381A>C (p.Asn461His) c.1330A>C (p.Asn444His) c.1249A>C (p.Asn417His) n.1633A>C | |
X | g.18604305A>G | CA10360378 | CDKL5 | c.1381A>G (p.Asn461Asp) c.1330A>G (p.Asn444Asp) c.1249A>G (p.Asn417Asp) n.1633A>G | dbSNP ExAC gnomAD v2 |
X | g.18604305A>T | CA412360658 | CDKL5 | c.1381A>T (p.Asn461Tyr) c.1330A>T (p.Asn444Tyr) c.1249A>T (p.Asn417Tyr) n.1633A>T | |
X | g.18604306A= | CA2417974115 | CDKL5 | c.1382A= (p.Asn461=) c.1331A= (p.Asn444=) c.1250A= (p.Asn417=) n.1634A= | |
X | g.18604306A>C | CA412360661 | CDKL5 | c.1382A>C (p.Asn461Thr) c.1331A>C (p.Asn444Thr) c.1250A>C (p.Asn417Thr) n.1634A>C | gnomAD v4 |
X | g.18604306A>G | CA170445 | CDKL5 | c.1382A>G (p.Asn461Ser) c.1331A>G (p.Asn444Ser) c.1250A>G (p.Asn417Ser) n.1634A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604306A>T | CA10360379 | CDKL5 | c.1382A>T (p.Asn461Ile) c.1331A>T (p.Asn444Ile) c.1250A>T (p.Asn417Ile) n.1634A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604307T>A | CA412360664 | CDKL5 | c.1383T>A (p.Asn461Lys) c.1332T>A (p.Asn444Lys) c.1251T>A (p.Asn417Lys) n.1635T>A | |
X | g.18604307T>C | CA515627812 | CDKL5 | c.1383T>C (p.Asn461=) c.1332T>C (p.Asn444=) c.1251T>C (p.Asn417=) n.1635T>C | dbSNP gnomAD v3 gnomAD v4 |
X | g.18604307T>G | CA412360665 | CDKL5 | c.1383T>G (p.Asn461Lys) c.1332T>G (p.Asn444Lys) c.1251T>G (p.Asn417Lys) n.1635T>G | |
X | g.18604307T= | CA2417974125 | CDKL5 | c.1383T= (p.Asn461=) c.1332T= (p.Asn444=) c.1251T= (p.Asn417=) n.1635T= | |
X | g.18604308G>A | CA412360667 | CDKL5 | c.1384G>A (p.Glu462Lys) c.1333G>A (p.Glu445Lys) c.1252G>A (p.Glu418Lys) n.1636G>A | |
X | g.18604308G>C | CA412360670 | CDKL5 | c.1384G>C (p.Glu462Gln) c.1333G>C (p.Glu445Gln) c.1252G>C (p.Glu418Gln) n.1636G>C | |
X | g.18604308G>T | CA412360669 | CDKL5 | c.1384G>T (p.Glu462Ter) c.1333G>T (p.Glu445Ter) c.1252G>T (p.Glu418Ter) n.1636G>T | dbSNP |
X | g.18604309A>C | CA412360678 | CDKL5 | c.1385A>C (p.Glu462Ala) c.1334A>C (p.Glu445Ala) c.1253A>C (p.Glu418Ala) n.1637A>C | |
X | g.18604309A>G | CA412360681 | CDKL5 | c.1385A>G (p.Glu462Gly) c.1334A>G (p.Glu445Gly) c.1253A>G (p.Glu418Gly) n.1637A>G | gnomAD v4 |
X | g.18604309A>T | CA412360682 | CDKL5 | c.1385A>T (p.Glu462Val) c.1334A>T (p.Glu445Val) c.1253A>T (p.Glu418Val) n.1637A>T | |
X | g.18604310A= | CA2417974130 | CDKL5 | c.1386A= (p.Glu462=) c.1335A= (p.Glu445=) c.1254A= (p.Glu418=) n.1638A= | |
X | g.18604310A>C | CA10360380 | CDKL5 | c.1386A>C (p.Glu462Asp) c.1335A>C (p.Glu445Asp) c.1254A>C (p.Glu418Asp) n.1638A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604310A>G | CA515627816 | CDKL5 | c.1386A>G (p.Glu462=) c.1335A>G (p.Glu445=) c.1254A>G (p.Glu418=) n.1638A>G | |
X | g.18604310A>T | CA412360683 | CDKL5 | c.1386A>T (p.Glu462Asp) c.1335A>T (p.Glu445Asp) c.1254A>T (p.Glu418Asp) n.1638A>T | |
X | g.18604311A= | CA2417974137 | CDKL5 | c.1387A= (p.Lys463=) c.1336A= (p.Lys446=) c.1255A= (p.Lys419=) n.1639A= | |
X | g.18604311A>C | CA412360684 | CDKL5 | c.1387A>C (p.Lys463Gln) c.1336A>C (p.Lys446Gln) c.1255A>C (p.Lys419Gln) n.1639A>C | |
X | g.18604311A>G | CA10360381 | CDKL5 | c.1387A>G (p.Lys463Glu) c.1336A>G (p.Lys446Glu) c.1255A>G (p.Lys419Glu) n.1639A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604311A>T | CA412360685 | CDKL5 | c.1387A>T (p.Lys463Ter) c.1336A>T (p.Lys446Ter) c.1255A>T (p.Lys419Ter) n.1639A>T | |
X | g.18604312A>C | CA412360686 | CDKL5 | c.1388A>C (p.Lys463Thr) c.1337A>C (p.Lys446Thr) c.1256A>C (p.Lys419Thr) n.1640A>C | |
X | g.18604312A>G | CA412360687 | CDKL5 | c.1388A>G (p.Lys463Arg) c.1337A>G (p.Lys446Arg) c.1256A>G (p.Lys419Arg) n.1640A>G | |
X | g.18604312A>T | CA412360689 | CDKL5 | c.1388A>T (p.Lys463Met) c.1337A>T (p.Lys446Met) c.1256A>T (p.Lys419Met) n.1640A>T | |
X | g.18604313G>A | CA10360382 | CDKL5 | c.1389G>A (p.Lys463=) c.1338G>A (p.Lys446=) c.1257G>A (p.Lys419=) n.1641G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604313G>C | CA412360692 | CDKL5 | c.1389G>C (p.Lys463Asn) c.1338G>C (p.Lys446Asn) c.1257G>C (p.Lys419Asn) n.1641G>C | |
X | g.18604313G= | CA2417974144 | CDKL5 | c.1389G= (p.Lys463=) c.1338G= (p.Lys446=) c.1257G= (p.Lys419=) n.1641G= | |
X | g.18604313G>T | CA412360691 | CDKL5 | c.1389G>T (p.Lys463Asn) c.1338G>T (p.Lys446Asn) c.1257G>T (p.Lys419Asn) n.1641G>T | |
X | g.18604314C>A | CA412360695 | CDKL5 | c.1390C>A (p.Gln464Lys) c.1339C>A (p.Gln447Lys) c.1258C>A (p.Gln420Lys) n.1642C>A | |
X | g.18604314C>G | CA412360697 | CDKL5 | c.1390C>G (p.Gln464Glu) c.1339C>G (p.Gln447Glu) c.1258C>G (p.Gln420Glu) n.1642C>G | |
X | g.18604314C>T | CA412360696 | CDKL5 | c.1390C>T (p.Gln464Ter) c.1339C>T (p.Gln447Ter) c.1258C>T (p.Gln420Ter) n.1642C>T | |
X | g.18604315A>C | CA412360699 | CDKL5 | c.1391A>C (p.Gln464Pro) c.1340A>C (p.Gln447Pro) c.1259A>C (p.Gln420Pro) n.1643A>C | |
X | g.18604315A>G | CA412360701 | CDKL5 | c.1391A>G (p.Gln464Arg) c.1340A>G (p.Gln447Arg) c.1259A>G (p.Gln420Arg) n.1643A>G | |
X | g.18604315A>T | CA412360703 | CDKL5 | c.1391A>T (p.Gln464Leu) c.1340A>T (p.Gln447Leu) c.1259A>T (p.Gln420Leu) n.1643A>T | |
X | g.18604316G>A | CA515627821 | CDKL5 | c.1392G>A (p.Gln464=) c.1341G>A (p.Gln447=) c.1260G>A (p.Gln420=) n.1644G>A | |
X | g.18604316G>C | CA412360706 | CDKL5 | c.1392G>C (p.Gln464His) c.1341G>C (p.Gln447His) c.1260G>C (p.Gln420His) n.1644G>C | |
X | g.18604316G>T | CA412360708 | CDKL5 | c.1392G>T (p.Gln464His) c.1341G>T (p.Gln447His) c.1260G>T (p.Gln420His) n.1644G>T | |
X | g.18604317A= | CA2417974147 | CDKL5 | c.1393A= (p.Ser465=) c.1342A= (p.Ser448=) c.1261A= (p.Ser421=) n.1645A= | |
X | g.18604317A>C | CA412360711 | CDKL5 | c.1393A>C (p.Ser465Arg) c.1342A>C (p.Ser448Arg) c.1261A>C (p.Ser421Arg) n.1645A>C | |
X | g.18604317A>G | CA412360712 | CDKL5 | c.1393A>G (p.Ser465Gly) c.1342A>G (p.Ser448Gly) c.1261A>G (p.Ser421Gly) n.1645A>G | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604317A>T | CA412360715 | CDKL5 | c.1393A>T (p.Ser465Cys) c.1342A>T (p.Ser448Cys) c.1261A>T (p.Ser421Cys) n.1645A>T | |
X | g.18604318G>A | CA412360717 | CDKL5 | c.1394G>A (p.Ser465Asn) c.1343G>A (p.Ser448Asn) c.1262G>A (p.Ser421Asn) n.1646G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604318G>C | CA412360719 | CDKL5 | c.1394G>C (p.Ser465Thr) c.1343G>C (p.Ser448Thr) c.1262G>C (p.Ser421Thr) n.1646G>C | |
X | g.18604318G= | CA2417974150 | CDKL5 | c.1394G= (p.Ser465=) c.1343G= (p.Ser448=) c.1262G= (p.Ser421=) n.1646G= | |
X | g.18604318G>T | CA412360721 | CDKL5 | c.1394G>T (p.Ser465Ile) c.1343G>T (p.Ser448Ile) c.1262G>T (p.Ser421Ile) n.1646G>T | |
X | g.18604319T>A | CA412360723 | CDKL5 | c.1395T>A (p.Ser465Arg) c.1344T>A (p.Ser448Arg) c.1263T>A (p.Ser421Arg) n.1647T>A | |
X | g.18604319T>C | CA515627823 | CDKL5 | c.1395T>C (p.Ser465=) c.1344T>C (p.Ser448=) c.1263T>C (p.Ser421=) n.1647T>C | |
X | g.18604319T>G | CA412360724 | CDKL5 | c.1395T>G (p.Ser465Arg) c.1344T>G (p.Ser448Arg) c.1263T>G (p.Ser421Arg) n.1647T>G | |
X | g.18604320C>A | CA515627825 | CDKL5 | c.1396C>A (p.Arg466=) c.1345C>A (p.Arg449=) c.1264C>A (p.Arg422=) n.1648C>A | |
X | g.18604320C= | CA2417974153 | CDKL5 | c.1396C= (p.Arg466=) c.1345C= (p.Arg449=) c.1264C= (p.Arg422=) n.1648C= | |
X | g.18604320C>G | CA412360725 | CDKL5 | c.1396C>G (p.Arg466Gly) c.1345C>G (p.Arg449Gly) c.1264C>G (p.Arg422Gly) n.1648C>G | |
X | g.18604320C>T | CA412360726 | CDKL5 | c.1396C>T (p.Arg466Trp) c.1345C>T (p.Arg449Trp) c.1264C>T (p.Arg422Trp) n.1648C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18604321G>A | CA10360383 | CDKL5 | c.1397G>A (p.Arg466Gln) c.1346G>A (p.Arg449Gln) c.1265G>A (p.Arg422Gln) n.1649G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604321G>C | CA412360729 | CDKL5 | c.1397G>C (p.Arg466Pro) c.1346G>C (p.Arg449Pro) c.1265G>C (p.Arg422Pro) n.1649G>C | |
X | g.18604321G= | CA2417974157 | CDKL5 | c.1397G= (p.Arg466=) c.1346G= (p.Arg449=) c.1265G= (p.Arg422=) n.1649G= | |
X | g.18604321G>T | CA412360730 | CDKL5 | c.1397G>T (p.Arg466Leu) c.1346G>T (p.Arg449Leu) c.1265G>T (p.Arg422Leu) n.1649G>T | |
X | g.18604322G>A | CA515627829 | CDKL5 | c.1398G>A (p.Arg466=) c.1347G>A (p.Arg449=) c.1266G>A (p.Arg422=) n.1650G>A | |
X | g.18604322G>C | CA515627830 | CDKL5 | c.1398G>C (p.Arg466=) c.1347G>C (p.Arg449=) c.1266G>C (p.Arg422=) n.1650G>C | |
X | g.18604322G>T | CA515627831 | CDKL5 | c.1398G>T (p.Arg466=) c.1347G>T (p.Arg449=) c.1266G>T (p.Arg422=) n.1650G>T | COSMIC |
X | g.18604323C>A | CA412360731 | CDKL5 | c.1399C>A (p.His467Asn) c.1348C>A (p.His450Asn) c.1267C>A (p.His423Asn) n.1651C>A | |
X | g.18604323C>G | CA412360736 | CDKL5 | c.1399C>G (p.His467Asp) c.1348C>G (p.His450Asp) c.1267C>G (p.His423Asp) n.1651C>G | |
X | g.18604323C>T | CA412360738 | CDKL5 | c.1399C>T (p.His467Tyr) c.1348C>T (p.His450Tyr) c.1267C>T (p.His423Tyr) n.1651C>T | |
X | g.18604324A= | CA2417974162 | CDKL5 | c.1400A= (p.His467=) c.1349A= (p.His450=) c.1268A= (p.His423=) n.1652A= | |
X | g.18604324A>C | CA170447 | CDKL5 | c.1400A>C (p.His467Pro) c.1349A>C (p.His450Pro) c.1268A>C (p.His423Pro) n.1652A>C | ClinVar dbSNP |
X | g.18604324A>G | CA171611 | CDKL5 | c.1400A>G (p.His467Arg) c.1349A>G (p.His450Arg) c.1268A>G (p.His423Arg) n.1652A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604324A>T | CA412360740 | CDKL5 | c.1400A>T (p.His467Leu) c.1349A>T (p.His450Leu) c.1268A>T (p.His423Leu) n.1652A>T | |
X | g.18604325T>A | CA412360743 | CDKL5 | c.1401T>A (p.His467Gln) c.1350T>A (p.His450Gln) c.1269T>A (p.His423Gln) n.1653T>A | |
X | g.18604325T>C | CA515627833 | CDKL5 | c.1401T>C (p.His467=) c.1350T>C (p.His450=) c.1269T>C (p.His423=) n.1653T>C | |
X | g.18604325T>G | CA412360745 | CDKL5 | c.1401T>G (p.His467Gln) c.1350T>G (p.His450Gln) c.1269T>G (p.His423Gln) n.1653T>G | |
X | g.18604326A>C | CA412360750 | CDKL5 | c.1402A>C (p.Ser468Arg) c.1351A>C (p.Ser451Arg) c.1270A>C (p.Ser424Arg) n.1654A>C | |
X | g.18604326A>G | CA412360748 | CDKL5 | c.1402A>G (p.Ser468Gly) c.1351A>G (p.Ser451Gly) c.1270A>G (p.Ser424Gly) n.1654A>G | |
X | g.18604326A>T | CA412360746 | CDKL5 | c.1402A>T (p.Ser468Cys) c.1351A>T (p.Ser451Cys) c.1270A>T (p.Ser424Cys) n.1654A>T | |
X | g.18604327G>A | CA412360752 | CDKL5 | c.1403G>A (p.Ser468Asn) c.1352G>A (p.Ser451Asn) c.1271G>A (p.Ser424Asn) n.1655G>A | |
X | g.18604327G>C | CA412360755 | CDKL5 | c.1403G>C (p.Ser468Thr) c.1352G>C (p.Ser451Thr) c.1271G>C (p.Ser424Thr) n.1655G>C | gnomAD v4 |
X | g.18604327G>T | CA412360757 | CDKL5 | c.1403G>T (p.Ser468Ile) c.1352G>T (p.Ser451Ile) c.1271G>T (p.Ser424Ile) n.1655G>T | |
X | g.18604328C>A | CA412360759 | CDKL5 | c.1404C>A (p.Ser468Arg) c.1353C>A (p.Ser451Arg) c.1272C>A (p.Ser424Arg) n.1656C>A | |
X | g.18604328C= | CA2417974168 | CDKL5 | c.1404C= (p.Ser468=) c.1353C= (p.Ser451=) c.1272C= (p.Ser424=) n.1656C= | |
X | g.18604328C>G | CA412360760 | CDKL5 | c.1404C>G (p.Ser468Arg) c.1353C>G (p.Ser451Arg) c.1272C>G (p.Ser424Arg) n.1656C>G | ClinVar dbSNP |
X | g.18604328C>T | CA515627835 | CDKL5 | c.1404C>T (p.Ser468=) c.1353C>T (p.Ser451=) c.1272C>T (p.Ser424=) n.1656C>T | |
X | g.18604329T>A | CA412360763 | CDKL5 | c.1405T>A (p.Tyr469Asn) c.1354T>A (p.Tyr452Asn) c.1273T>A (p.Tyr425Asn) n.1657T>A | |
X | g.18604329T>C | CA412360765 | CDKL5 | c.1405T>C (p.Tyr469His) c.1354T>C (p.Tyr452His) c.1273T>C (p.Tyr425His) n.1657T>C | |
X | g.18604329T>G | CA412360767 | CDKL5 | c.1405T>G (p.Tyr469Asp) c.1354T>G (p.Tyr452Asp) c.1273T>G (p.Tyr425Asp) n.1657T>G | |
X | g.18604330A= | CA2417974171 | CDKL5 | c.1406A= (p.Tyr469=) c.1355A= (p.Tyr452=) c.1274A= (p.Tyr425=) n.1658A= | |
X | g.18604330A>C | CA412360769 | CDKL5 | c.1406A>C (p.Tyr469Ser) c.1355A>C (p.Tyr452Ser) c.1274A>C (p.Tyr425Ser) n.1658A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18604330A>G | CA412360771 | CDKL5 | c.1406A>G (p.Tyr469Cys) c.1355A>G (p.Tyr452Cys) c.1274A>G (p.Tyr425Cys) n.1658A>G | dbSNP gnomAD v3 gnomAD v4 COSMIC |
X | g.18604330A>T | CA412360773 | CDKL5 | c.1406A>T (p.Tyr469Phe) c.1355A>T (p.Tyr452Phe) c.1274A>T (p.Tyr425Phe) n.1658A>T | |
X | g.18604331T>A | CA412360775 | CDKL5 | c.1407T>A (p.Tyr469Ter) c.1356T>A (p.Tyr452Ter) c.1275T>A (p.Tyr425Ter) n.1659T>A | |
X | g.18604331T>C | CA515627838 | CDKL5 | c.1407T>C (p.Tyr469=) c.1356T>C (p.Tyr452=) c.1275T>C (p.Tyr425=) n.1659T>C | |
X | g.18604331T>G | CA412360777 | CDKL5 | c.1407T>G (p.Tyr469Ter) c.1356T>G (p.Tyr452Ter) c.1275T>G (p.Tyr425Ter) n.1659T>G | |
X | g.18604332A>C | CA412360783 | CDKL5 | c.1408A>C (p.Ile470Leu) c.1357A>C (p.Ile453Leu) c.1276A>C (p.Ile426Leu) n.1660A>C | |
X | g.18604332A>G | CA412360779 | CDKL5 | c.1408A>G (p.Ile470Val) c.1357A>G (p.Ile453Val) c.1276A>G (p.Ile426Val) n.1660A>G | gnomAD v4 |
X | g.18604332A>T | CA412360781 | CDKL5 | c.1408A>T (p.Ile470Phe) c.1357A>T (p.Ile453Phe) c.1276A>T (p.Ile426Phe) n.1660A>T | |
X | g.18604333T>A | CA412360785 | CDKL5 | c.1409T>A (p.Ile470Asn) c.1358T>A (p.Ile453Asn) c.1277T>A (p.Ile426Asn) n.1661T>A | |
X | g.18604333T>C | CA412360787 | CDKL5 | c.1409T>C (p.Ile470Thr) c.1358T>C (p.Ile453Thr) c.1277T>C (p.Ile426Thr) n.1661T>C | |
X | g.18604333T>G | CA412360789 | CDKL5 | c.1409T>G (p.Ile470Ser) c.1358T>G (p.Ile453Ser) c.1277T>G (p.Ile426Ser) n.1661T>G | |
X | g.18604334T>A | CA515627841 | CDKL5 | c.1410T>A (p.Ile470=) c.1359T>A (p.Ile453=) c.1278T>A (p.Ile426=) n.1662T>A | |
X | g.18604334T>C | CA515627840 | CDKL5 | c.1410T>C (p.Ile470=) c.1359T>C (p.Ile453=) c.1278T>C (p.Ile426=) n.1662T>C | |
X | g.18604334T>G | CA412360790 | CDKL5 | c.1410T>G (p.Ile470Met) c.1359T>G (p.Ile453Met) c.1278T>G (p.Ile426Met) n.1662T>G | |
X | g.18604335G>A | CA412360793 | CDKL5 | c.1411G>A (p.Asp471Asn) c.1360G>A (p.Asp454Asn) c.1279G>A (p.Asp427Asn) n.1663G>A | |
X | g.18604335G>C | CA412360794 | CDKL5 | c.1411G>C (p.Asp471His) c.1360G>C (p.Asp454His) c.1279G>C (p.Asp427His) n.1663G>C | |
X | g.18604335G>T | CA412360796 | CDKL5 | c.1411G>T (p.Asp471Tyr) c.1360G>T (p.Asp454Tyr) c.1279G>T (p.Asp427Tyr) n.1663G>T | gnomAD v4 |
X | g.18604336del | CA2695231321 | CDKL5 | c.1412del (p.Asp471AlafsTer22) c.1412del (p.Asp471=) c.1361del (p.Asp454AlafsTer22) c.1280del (p.Asp427AlafsTer22) n.1664del | |
X | g.18604336A>C | CA412360798 | CDKL5 | c.1412A>C (p.Asp471Ala) c.1361A>C (p.Asp454Ala) c.1280A>C (p.Asp427Ala) n.1664A>C | gnomAD v4 |
X | g.18604336A>G | CA412360799 | CDKL5 | c.1412A>G (p.Asp471Gly) c.1361A>G (p.Asp454Gly) c.1280A>G (p.Asp427Gly) n.1664A>G | |
X | g.18604336A>T | CA412360801 | CDKL5 | c.1412A>T (p.Asp471Val) c.1361A>T (p.Asp454Val) c.1280A>T (p.Asp427Val) n.1664A>T | |
X | g.18604339_18604340del | CA2838032892 | CDKL5 | c.1415_1416del (p.Thr472AsnfsTer6) c.1364_1365del (p.Thr455AsnfsTer6) c.1283_1284del (p.Thr428AsnfsTer6) n.1667_1668del | |
X | g.18604337C>A | CA412360803 | CDKL5 | c.1413C>A (p.Asp471Glu) c.1362C>A (p.Asp454Glu) c.1281C>A (p.Asp427Glu) n.1665C>A | |
X | g.18604337C>G | CA412360805 | CDKL5 | c.1413C>G (p.Asp471Glu) c.1362C>G (p.Asp454Glu) c.1281C>G (p.Asp427Glu) n.1665C>G | |
X | g.18604337C>T | CA515627844 | CDKL5 | c.1413C>T (p.Asp471=) c.1362C>T (p.Asp454=) c.1281C>T (p.Asp427=) n.1665C>T | ClinVar dbSNP |
X | g.18604338A= | CA2417974174 | CDKL5 | c.1414A= (p.Thr472=) c.1363A= (p.Thr455=) c.1282A= (p.Thr428=) n.1666A= | |
X | g.18604338A>C | CA412360809 | CDKL5 | c.1414A>C (p.Thr472Pro) c.1363A>C (p.Thr455Pro) c.1282A>C (p.Thr428Pro) n.1666A>C | |
X | g.18604338A>G | CA412360811 | CDKL5 | c.1414A>G (p.Thr472Ala) c.1363A>G (p.Thr455Ala) c.1282A>G (p.Thr428Ala) n.1666A>G | dbSNP gnomAD v4 |
X | g.18604338A>T | CA412360808 | CDKL5 | c.1414A>T (p.Thr472Ser) c.1363A>T (p.Thr455Ser) c.1282A>T (p.Thr428Ser) n.1666A>T | |
X | g.18604339C>A | CA412360814 | CDKL5 | c.1415C>A (p.Thr472Lys) c.1364C>A (p.Thr455Lys) c.1283C>A (p.Thr428Lys) n.1667C>A | |
X | g.18604339C= | CA2417974179 | CDKL5 | c.1415C= (p.Thr472=) c.1364C= (p.Thr455=) c.1283C= (p.Thr428=) n.1667C= | |
X | g.18604339C>G | CA412360817 | CDKL5 | c.1415C>G (p.Thr472Arg) c.1364C>G (p.Thr455Arg) c.1283C>G (p.Thr428Arg) n.1667C>G | |
X | g.18604339C>T | CA412360815 | CDKL5 | c.1415C>T (p.Thr472Ile) c.1364C>T (p.Thr455Ile) c.1283C>T (p.Thr428Ile) n.1667C>T | |
X | g.18604340A>C | CA515627850 | CDKL5 | c.1416A>C (p.Thr472=) c.1365A>C (p.Thr455=) c.1284A>C (p.Thr428=) n.1668A>C | |
X | g.18604340A>G | CA515627848 | CDKL5 | c.1416A>G (p.Thr472=) c.1365A>G (p.Thr455=) c.1284A>G (p.Thr428=) n.1668A>G | |
X | g.18604340A>T | CA515627849 | CDKL5 | c.1416A>T (p.Thr472=) c.1365A>T (p.Thr455=) c.1284A>T (p.Thr428=) n.1668A>T | |
X | g.18604341dup | CA199379 | CDKL5 | c.1417dup (p.Ile473AsnfsTer6) c.1366dup (p.Ile456AsnfsTer6) c.1285dup (p.Ile429AsnfsTer6) n.1669dup | ClinVar dbSNP |
X | g.18604341A>C | CA412360819 | CDKL5 | c.1417A>C (p.Ile473Leu) c.1366A>C (p.Ile456Leu) c.1285A>C (p.Ile429Leu) n.1669A>C | gnomAD v4 |
X | g.18604341A>G | CA412360823 | CDKL5 | c.1417A>G (p.Ile473Val) c.1366A>G (p.Ile456Val) c.1285A>G (p.Ile429Val) n.1669A>G | |
X | g.18604341A>T | CA412360821 | CDKL5 | c.1417A>T (p.Ile473Phe) c.1366A>T (p.Ile456Phe) c.1285A>T (p.Ile429Phe) n.1669A>T | |
X | g.18604342T>A | CA412360825 | CDKL5 | c.1418T>A (p.Ile473Asn) c.1367T>A (p.Ile456Asn) c.1286T>A (p.Ile429Asn) n.1670T>A | |
X | g.18604342T>C | CA412360827 | CDKL5 | c.1418T>C (p.Ile473Thr) c.1367T>C (p.Ile456Thr) c.1286T>C (p.Ile429Thr) n.1670T>C | |
X | g.18604342T>G | CA412360829 | CDKL5 | c.1418T>G (p.Ile473Ser) c.1367T>G (p.Ile456Ser) c.1286T>G (p.Ile429Ser) n.1670T>G | |
X | g.18604343del | CA2573055199 | CDKL5 | c.1419del (p.Gln475SerfsTer18) c.1368del (p.Gln458SerfsTer18) c.1287del (p.Gln431SerfsTer18) n.1671del | ClinVar dbSNP |
X | g.18604343T>A | CA515627855 | CDKL5 | c.1419T>A (p.Ile473=) c.1368T>A (p.Ile456=) c.1287T>A (p.Ile429=) n.1671T>A | |
X | g.18604343T>C | CA515627856 | CDKL5 | c.1419T>C (p.Ile473=) c.1368T>C (p.Ile456=) c.1287T>C (p.Ile429=) n.1671T>C | |
X | g.18604343T>G | CA412360831 | CDKL5 | c.1419T>G (p.Ile473Met) c.1368T>G (p.Ile456Met) c.1287T>G (p.Ile429Met) n.1671T>G | |
X | g.18604343_18604344delinsTC | CA2417974186 | CDKL5 | c.1419_1420delinsTC (p.Ile473=) c.1368_1369delinsTC (p.Ile456=) c.1287_1288delinsTC (p.Ile429=) n.1671_1672delinsTC | |
X | g.18604344C>A | CA412360833 | CDKL5 | c.1420C>A (p.Pro474Thr) c.1369C>A (p.Pro457Thr) c.1288C>A (p.Pro430Thr) n.1672C>A | |
X | g.18604344C>G | CA412360835 | CDKL5 | c.1420C>G (p.Pro474Ala) c.1369C>G (p.Pro457Ala) c.1288C>G (p.Pro430Ala) n.1672C>G | |
X | g.18604344C>T | CA412360837 | CDKL5 | c.1420C>T (p.Pro474Ser) c.1369C>T (p.Pro457Ser) c.1288C>T (p.Pro430Ser) n.1672C>T | COSMIC |
X | g.18604347del | CA10360384 | CDKL5 | c.1423del (p.Gln475SerfsTer18) c.1372del (p.Gln458SerfsTer18) c.1291del (p.Gln431SerfsTer18) n.1675del | dbSNP ExAC |
X | g.18604345C>A | CA412360840 | CDKL5 | c.1421C>A (p.Pro474His) c.1370C>A (p.Pro457His) c.1289C>A (p.Pro430His) n.1673C>A | |
X | g.18604345C>G | CA412360842 | CDKL5 | c.1421C>G (p.Pro474Arg) c.1370C>G (p.Pro457Arg) c.1289C>G (p.Pro430Arg) n.1673C>G | |
X | g.18604345C>T | CA412360844 | CDKL5 | c.1421C>T (p.Pro474Leu) c.1370C>T (p.Pro457Leu) c.1289C>T (p.Pro430Leu) n.1673C>T | COSMIC |
X | g.18604346C>A | CA515627857 | CDKL5 | c.1422C>A (p.Pro474=) c.1371C>A (p.Pro457=) c.1290C>A (p.Pro430=) n.1674C>A | |
X | g.18604346C= | CA2417974191 | CDKL5 | c.1422C= (p.Pro474=) c.1371C= (p.Pro457=) c.1290C= (p.Pro430=) n.1674C= | |
X | g.18604346C>G | CA515627858 | CDKL5 | c.1422C>G (p.Pro474=) c.1371C>G (p.Pro457=) c.1290C>G (p.Pro430=) n.1674C>G | |
X | g.18604346C>T | CA10360385 | CDKL5 | c.1422C>T (p.Pro474=) c.1371C>T (p.Pro457=) c.1290C>T (p.Pro430=) n.1674C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604347C>A | CA412360851 | CDKL5 | c.1423C>A (p.Gln475Lys) c.1372C>A (p.Gln458Lys) c.1291C>A (p.Gln431Lys) n.1675C>A | |
X | g.18604347C>G | CA412360848 | CDKL5 | c.1423C>G (p.Gln475Glu) c.1372C>G (p.Gln458Glu) c.1291C>G (p.Gln431Glu) n.1675C>G | gnomAD v4 |
X | g.18604347C>T | CA412360850 | CDKL5 | c.1423C>T (p.Gln475Ter) c.1372C>T (p.Gln458Ter) c.1291C>T (p.Gln431Ter) n.1675C>T | |
X | g.18604348A>C | CA412360853 | CDKL5 | c.1424A>C (p.Gln475Pro) c.1373A>C (p.Gln458Pro) c.1292A>C (p.Gln431Pro) n.1676A>C | |
X | g.18604348A>G | CA412360855 | CDKL5 | c.1424A>G (p.Gln475Arg) c.1373A>G (p.Gln458Arg) c.1292A>G (p.Gln431Arg) n.1676A>G | |
X | g.18604348A>T | CA412360857 | CDKL5 | c.1424A>T (p.Gln475Leu) c.1373A>T (p.Gln458Leu) c.1292A>T (p.Gln431Leu) n.1676A>T | |
X | g.18604349G>A | CA515627860 | CDKL5 | c.1425G>A (p.Gln475=) c.1374G>A (p.Gln458=) c.1293G>A (p.Gln431=) n.1677G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604349G>C | CA412360859 | CDKL5 | c.1425G>C (p.Gln475His) c.1374G>C (p.Gln458His) c.1293G>C (p.Gln431His) n.1677G>C | |
X | g.18604349G= | CA2417974193 | CDKL5 | c.1425G= (p.Gln475=) c.1374G= (p.Gln458=) c.1293G= (p.Gln431=) n.1677G= | |
X | g.18604349G>T | CA412360861 | CDKL5 | c.1425G>T (p.Gln475His) c.1374G>T (p.Gln458His) c.1293G>T (p.Gln431His) n.1677G>T | |
X | g.18604350T>A | CA412360863 | CDKL5 | c.1426T>A (p.Ser476Thr) c.1375T>A (p.Ser459Thr) c.1294T>A (p.Ser432Thr) n.1678T>A | gnomAD v4 |
X | g.18604350T>C | CA412360865 | CDKL5 | c.1426T>C (p.Ser476Pro) c.1375T>C (p.Ser459Pro) c.1294T>C (p.Ser432Pro) n.1678T>C | |
X | g.18604350T>G | CA412360867 | CDKL5 | c.1426T>G (p.Ser476Ala) c.1375T>G (p.Ser459Ala) c.1294T>G (p.Ser432Ala) n.1678T>G | |
X | g.18604351C>A | CA412360869 | CDKL5 | c.1427C>A (p.Ser476Tyr) c.1376C>A (p.Ser459Tyr) c.1295C>A (p.Ser432Tyr) n.1679C>A | |
X | g.18604351C>G | CA412360871 | CDKL5 | c.1427C>G (p.Ser476Cys) c.1376C>G (p.Ser459Cys) c.1295C>G (p.Ser432Cys) n.1679C>G | |
X | g.18604351C>T | CA412360872 | CDKL5 | c.1427C>T (p.Ser476Phe) c.1376C>T (p.Ser459Phe) c.1295C>T (p.Ser432Phe) n.1679C>T | |
X | g.18604352C>A | CA515627862 | CDKL5 | c.1428C>A (p.Ser476=) c.1377C>A (p.Ser459=) c.1296C>A (p.Ser432=) n.1680C>A | |
X | g.18604352C>G | CA515627863 | CDKL5 | c.1428C>G (p.Ser476=) c.1377C>G (p.Ser459=) c.1296C>G (p.Ser432=) n.1680C>G | |
X | g.18604352C>T | CA515627864 | CDKL5 | c.1428C>T (p.Ser476=) c.1377C>T (p.Ser459=) c.1296C>T (p.Ser432=) n.1680C>T | gnomAD v4 |
X | g.18604353T>A | CA412360877 | CDKL5 | c.1429T>A (p.Ser477Thr) c.1378T>A (p.Ser460Thr) c.1297T>A (p.Ser433Thr) n.1681T>A | |
X | g.18604353T>C | CA412360875 | CDKL5 | c.1429T>C (p.Ser477Pro) c.1378T>C (p.Ser460Pro) c.1297T>C (p.Ser433Pro) n.1681T>C | |
X | g.18604353T>G | CA412360873 | CDKL5 | c.1429T>G (p.Ser477Ala) c.1378T>G (p.Ser460Ala) c.1297T>G (p.Ser433Ala) n.1681T>G | |
X | g.18604354C>A | CA412360881 | CDKL5 | c.1430C>A (p.Ser477Tyr) c.1379C>A (p.Ser460Tyr) c.1298C>A (p.Ser433Tyr) n.1682C>A | |
X | g.18604354C= | CA2417974196 | CDKL5 | c.1430C= (p.Ser477=) c.1379C= (p.Ser460=) c.1298C= (p.Ser433=) n.1682C= | |
X | g.18604354C>G | CA412360879 | CDKL5 | c.1430C>G (p.Ser477Cys) c.1379C>G (p.Ser460Cys) c.1298C>G (p.Ser433Cys) n.1682C>G | |
X | g.18604354C>T | CA326987799 | CDKL5 | c.1430C>T (p.Ser477Phe) c.1379C>T (p.Ser460Phe) c.1298C>T (p.Ser433Phe) n.1682C>T | dbSNP |
X | g.18604355T>A | CA515627868 | CDKL5 | c.1431T>A (p.Ser477=) c.1380T>A (p.Ser460=) c.1299T>A (p.Ser433=) n.1683T>A | |
X | g.18604355T>C | CA199329 | CDKL5 | c.1431T>C (p.Ser477=) c.1380T>C (p.Ser460=) c.1299T>C (p.Ser433=) n.1683T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604355T>G | CA515627867 | CDKL5 | c.1431T>G (p.Ser477=) c.1380T>G (p.Ser460=) c.1299T>G (p.Ser433=) n.1683T>G | |
X | g.18604355T= | CA2417974205 | CDKL5 | c.1431T= (p.Ser477=) c.1380T= (p.Ser460=) c.1299T= (p.Ser433=) n.1683T= | |
X | g.18604355_18604359dup | CA915950766 | CDKL5 | c.1431_1435dup (p.Ser479IlefsTer16) c.1380_1384dup (p.Ser462IlefsTer16) c.1299_1303dup (p.Ser435IlefsTer16) n.1683_1687dup | ClinVar dbSNP |
X | g.18604356A= | CA2417974209 | CDKL5 | c.1432A= (p.Arg478=) c.1381A= (p.Arg461=) c.1300A= (p.Arg434=) n.1684A= | |
X | g.18604356A>C | CA515627869 | CDKL5 | c.1432A>C (p.Arg478=) c.1381A>C (p.Arg461=) c.1300A>C (p.Arg434=) n.1684A>C | |
X | g.18604356A>G | CA412360884 | CDKL5 | c.1432A>G (p.Arg478Gly) c.1381A>G (p.Arg461Gly) c.1300A>G (p.Arg434Gly) n.1684A>G | |
X | g.18604356A>T | CA412360886 | CDKL5 | c.1432A>T (p.Arg478Trp) c.1381A>T (p.Arg461Trp) c.1300A>T (p.Arg434Trp) n.1684A>T | |
X | g.18604356_18604357insT | CA235609 | CDKL5 | c.1432_1433insT (p.Arg478MetfsTer17) c.1381_1382insT (p.Arg461MetfsTer17) c.1300_1301insT (p.Arg434MetfsTer17) n.1684_1685insT | ClinVar dbSNP |
X | g.18604357G>A | CA412360891 | CDKL5 | c.1433G>A (p.Arg478Lys) c.1382G>A (p.Arg461Lys) c.1301G>A (p.Arg434Lys) n.1685G>A | |
X | g.18604357G>C | CA412360889 | CDKL5 | c.1433G>C (p.Arg478Thr) c.1382G>C (p.Arg461Thr) c.1301G>C (p.Arg434Thr) n.1685G>C | |
X | g.18604357G>T | CA412360890 | CDKL5 | c.1433G>T (p.Arg478Met) c.1382G>T (p.Arg461Met) c.1301G>T (p.Arg434Met) n.1685G>T |