Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.18604428_18604437delinsACT | CA2695231327 | CDKL5 | c.1504_1513delinsACT (p.Ser502ThrfsTer19) c.1453_1462delinsACT (p.Ser485ThrfsTer19) c.1372_1381delinsACT (p.Ser458ThrfsTer19) n.1756_1765delinsACT | |
X | g.18604430T>A | CA515628106 | CDKL5 | c.1506T>A (p.Ser502=) c.1455T>A (p.Ser485=) c.1374T>A (p.Ser458=) n.1758T>A | |
X | g.18604430T>C | CA515628110 | CDKL5 | c.1506T>C (p.Ser502=) c.1455T>C (p.Ser485=) c.1374T>C (p.Ser458=) n.1758T>C | |
X | g.18604430T>G | CA515628112 | CDKL5 | c.1506T>G (p.Ser502=) c.1455T>G (p.Ser485=) c.1374T>G (p.Ser458=) n.1758T>G | |
X | g.18604430dup | CA2580100419 | CDKL5 | c.1506dup (p.Glu503Ter) c.1455dup (p.Glu486Ter) c.1374dup (p.Glu459Ter) n.1758dup | ClinVar |
X | g.18604431G>A | CA412361273 | CDKL5 | c.1507G>A (p.Glu503Lys) c.1456G>A (p.Glu486Lys) c.1375G>A (p.Glu459Lys) n.1759G>A | |
X | g.18604431G>C | CA412361276 | CDKL5 | c.1507G>C (p.Glu503Gln) c.1456G>C (p.Glu486Gln) c.1375G>C (p.Glu459Gln) n.1759G>C | |
X | g.18604431G>T | CA412361280 | CDKL5 | c.1507G>T (p.Glu503Ter) c.1456G>T (p.Glu486Ter) c.1375G>T (p.Glu459Ter) n.1759G>T | |
X | g.18604432A>C | CA412361283 | CDKL5 | c.1508A>C (p.Glu503Ala) c.1457A>C (p.Glu486Ala) c.1376A>C (p.Glu459Ala) n.1760A>C | |
X | g.18604432A>G | CA412361286 | CDKL5 | c.1508A>G (p.Glu503Gly) c.1457A>G (p.Glu486Gly) c.1376A>G (p.Glu459Gly) n.1760A>G | |
X | g.18604432A>T | CA412361288 | CDKL5 | c.1508A>T (p.Glu503Val) c.1457A>T (p.Glu486Val) c.1376A>T (p.Glu459Val) n.1760A>T | |
X | g.18604433A= | CA2417974406 | CDKL5 | c.1509A= (p.Glu503=) c.1458A= (p.Glu486=) c.1377A= (p.Glu459=) n.1761A= | |
X | g.18604433A>C | CA412361291 | CDKL5 | c.1509A>C (p.Glu503Asp) c.1458A>C (p.Glu486Asp) c.1377A>C (p.Glu459Asp) n.1761A>C | |
X | g.18604433A>G | CA515628118 | CDKL5 | c.1509A>G (p.Glu503=) c.1458A>G (p.Glu486=) c.1377A>G (p.Glu459=) n.1761A>G | |
X | g.18604433A>T | CA412361292 | CDKL5 | c.1509A>T (p.Glu503Asp) c.1458A>T (p.Glu486Asp) c.1377A>T (p.Glu459Asp) n.1761A>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604434G>A | CA412361293 | CDKL5 | c.1510G>A (p.Ala504Thr) c.1459G>A (p.Ala487Thr) c.1378G>A (p.Ala460Thr) n.1762G>A | |
X | g.18604434G>C | CA412361294 | CDKL5 | c.1510G>C (p.Ala504Pro) c.1459G>C (p.Ala487Pro) c.1378G>C (p.Ala460Pro) n.1762G>C | |
X | g.18604434G>T | CA412361295 | CDKL5 | c.1510G>T (p.Ala504Ser) c.1459G>T (p.Ala487Ser) c.1378G>T (p.Ala460Ser) n.1762G>T | |
X | g.18604435C>A | CA412361297 | CDKL5 | c.1511C>A (p.Ala504Asp) c.1460C>A (p.Ala487Asp) c.1379C>A (p.Ala460Asp) n.1763C>A | |
X | g.18604435C>G | CA412361299 | CDKL5 | c.1511C>G (p.Ala504Gly) c.1460C>G (p.Ala487Gly) c.1379C>G (p.Ala460Gly) n.1763C>G | |
X | g.18604435C>T | CA412361301 | CDKL5 | c.1511C>T (p.Ala504Val) c.1460C>T (p.Ala487Val) c.1379C>T (p.Ala460Val) n.1763C>T | gnomAD v4 |
X | g.18604436C>A | CA515628126 | CDKL5 | c.1512C>A (p.Ala504=) c.1461C>A (p.Ala487=) c.1380C>A (p.Ala460=) n.1764C>A | |
X | g.18604436C>G | CA515628130 | CDKL5 | c.1512C>G (p.Ala504=) c.1461C>G (p.Ala487=) c.1380C>G (p.Ala460=) n.1764C>G | |
X | g.18604436C>T | CA515628132 | CDKL5 | c.1512C>T (p.Ala504=) c.1461C>T (p.Ala487=) c.1380C>T (p.Ala460=) n.1764C>T | |
X | g.18604437A>C | CA515628133 | CDKL5 | c.1513A>C (p.Arg505=) c.1462A>C (p.Arg488=) c.1381A>C (p.Arg461=) n.1765A>C | gnomAD v4 |
X | g.18604437A>G | CA412361303 | CDKL5 | c.1513A>G (p.Arg505Gly) c.1462A>G (p.Arg488Gly) c.1381A>G (p.Arg461Gly) n.1765A>G | |
X | g.18604437A>T | CA412361305 | CDKL5 | c.1513A>T (p.Arg505Trp) c.1462A>T (p.Arg488Trp) c.1381A>T (p.Arg461Trp) n.1765A>T | |
X | g.18604438G>A | CA412361308 | CDKL5 | c.1514G>A (p.Arg505Lys) c.1463G>A (p.Arg488Lys) c.1382G>A (p.Arg461Lys) n.1766G>A | gnomAD v4 |
X | g.18604438G>C | CA412361311 | CDKL5 | c.1514G>C (p.Arg505Thr) c.1463G>C (p.Arg488Thr) c.1382G>C (p.Arg461Thr) n.1766G>C | |
X | g.18604438G>T | CA412361317 | CDKL5 | c.1514G>T (p.Arg505Met) c.1463G>T (p.Arg488Met) c.1382G>T (p.Arg461Met) n.1766G>T | |
X | g.18604439G>A | CA515628142 | CDKL5 | c.1515G>A (p.Arg505=) c.1464G>A (p.Arg488=) c.1383G>A (p.Arg461=) n.1767G>A | ClinVar |
X | g.18604439G>C | CA412361320 | CDKL5 | c.1515G>C (p.Arg505Ser) c.1464G>C (p.Arg488Ser) c.1383G>C (p.Arg461Ser) n.1767G>C | |
X | g.18604439G>T | CA412361322 | CDKL5 | c.1515G>T (p.Arg505Ser) c.1464G>T (p.Arg488Ser) c.1383G>T (p.Arg461Ser) n.1767G>T | |
X | g.18604440G>A | CA412361325 | CDKL5 | c.1516G>A (p.Ala506Thr) c.1465G>A (p.Ala489Thr) c.1384G>A (p.Ala462Thr) n.1768G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604440G>C | CA412361327 | CDKL5 | c.1516G>C (p.Ala506Pro) c.1465G>C (p.Ala489Pro) c.1384G>C (p.Ala462Pro) n.1768G>C | |
X | g.18604440G= | CA2417974407 | CDKL5 | c.1516G= (p.Ala506=) c.1465G= (p.Ala489=) c.1384G= (p.Ala462=) n.1768G= | |
X | g.18604440G>T | CA412361330 | CDKL5 | c.1516G>T (p.Ala506Ser) c.1465G>T (p.Ala489Ser) c.1384G>T (p.Ala462Ser) n.1768G>T | |
X | g.18604441C>A | CA412361332 | CDKL5 | c.1517C>A (p.Ala506Asp) c.1466C>A (p.Ala489Asp) c.1385C>A (p.Ala462Asp) n.1769C>A | |
X | g.18604441C= | CA2417974408 | CDKL5 | c.1517C= (p.Ala506=) c.1466C= (p.Ala489=) c.1385C= (p.Ala462=) n.1769C= | |
X | g.18604441C>G | CA412361335 | CDKL5 | c.1517C>G (p.Ala506Gly) c.1466C>G (p.Ala489Gly) c.1385C>G (p.Ala462Gly) n.1769C>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.18604441C>T | CA412361336 | CDKL5 | c.1517C>T (p.Ala506Val) c.1466C>T (p.Ala489Val) c.1385C>T (p.Ala462Val) n.1769C>T | |
X | g.18604442C>A | CA515628157 | CDKL5 | c.1518C>A (p.Ala506=) c.1467C>A (p.Ala489=) c.1386C>A (p.Ala462=) n.1770C>A | |
X | g.18604442C>G | CA515628159 | CDKL5 | c.1518C>G (p.Ala506=) c.1467C>G (p.Ala489=) c.1386C>G (p.Ala462=) n.1770C>G | |
X | g.18604442C>T | CA515628162 | CDKL5 | c.1518C>T (p.Ala506=) c.1467C>T (p.Ala489=) c.1386C>T (p.Ala462=) n.1770C>T | gnomAD v4 |
X | g.18604443C>A | CA412361338 | CDKL5 | c.1519C>A (p.Gln507Lys) c.1468C>A (p.Gln490Lys) c.1387C>A (p.Gln463Lys) n.1771C>A | |
X | g.18604443C= | CA2417974409 | CDKL5 | c.1519C= (p.Gln507=) c.1468C= (p.Gln490=) c.1387C= (p.Gln463=) n.1771C= | |
X | g.18604443C>G | CA412361344 | CDKL5 | c.1519C>G (p.Gln507Glu) c.1468C>G (p.Gln490Glu) c.1387C>G (p.Gln463Glu) n.1771C>G | |
X | g.18604443C>T | CA412361346 | CDKL5 | c.1519C>T (p.Gln507Ter) c.1468C>T (p.Gln490Ter) c.1387C>T (p.Gln463Ter) n.1771C>T | ClinVar dbSNP |
X | g.18604444A>C | CA412361351 | CDKL5 | c.1520A>C (p.Gln507Pro) c.1469A>C (p.Gln490Pro) c.1388A>C (p.Gln463Pro) n.1772A>C | |
X | g.18604444A>G | CA412361353 | CDKL5 | c.1520A>G (p.Gln507Arg) c.1469A>G (p.Gln490Arg) c.1388A>G (p.Gln463Arg) n.1772A>G | |
X | g.18604444A>T | CA412361348 | CDKL5 | c.1520A>T (p.Gln507Leu) c.1469A>T (p.Gln490Leu) c.1388A>T (p.Gln463Leu) n.1772A>T | |
X | g.18604445A>C | CA412361358 | CDKL5 | c.1521A>C (p.Gln507His) c.1470A>C (p.Gln490His) c.1389A>C (p.Gln463His) n.1773A>C | |
X | g.18604445A>G | CA515628170 | CDKL5 | c.1521A>G (p.Gln507=) c.1470A>G (p.Gln490=) c.1389A>G (p.Gln463=) n.1773A>G | |
X | g.18604445A>T | CA412361356 | CDKL5 | c.1521A>T (p.Gln507His) c.1470A>T (p.Gln490His) c.1389A>T (p.Gln463His) n.1773A>T | |
X | g.18604446A>C | CA412361367 | CDKL5 | c.1522A>C (p.Ile508Leu) c.1471A>C (p.Ile491Leu) c.1390A>C (p.Ile464Leu) n.1774A>C | |
X | g.18604446A>G | CA412361365 | CDKL5 | c.1522A>G (p.Ile508Val) c.1471A>G (p.Ile491Val) c.1390A>G (p.Ile464Val) n.1774A>G | gnomAD v4 |
X | g.18604446A>T | CA412361372 | CDKL5 | c.1522A>T (p.Ile508Phe) c.1471A>T (p.Ile491Phe) c.1390A>T (p.Ile464Phe) n.1774A>T | |
X | g.18604447T>A | CA412361375 | CDKL5 | c.1523T>A (p.Ile508Asn) c.1472T>A (p.Ile491Asn) c.1391T>A (p.Ile464Asn) n.1775T>A | |
X | g.18604447T>C | CA170449 | CDKL5 | c.1523T>C (p.Ile508Thr) c.1472T>C (p.Ile491Thr) c.1391T>C (p.Ile464Thr) n.1775T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604447T>G | CA412361377 | CDKL5 | c.1523T>G (p.Ile508Ser) c.1472T>G (p.Ile491Ser) c.1391T>G (p.Ile464Ser) n.1775T>G | |
X | g.18604447T= | CA2417974410 | CDKL5 | c.1523T= (p.Ile508=) c.1472T= (p.Ile491=) c.1391T= (p.Ile464=) n.1775T= | |
X | g.18604448T>A | CA515628183 | CDKL5 | c.1524T>A (p.Ile508=) c.1473T>A (p.Ile491=) c.1392T>A (p.Ile464=) n.1776T>A | |
X | g.18604448T>C | CA515628186 | CDKL5 | c.1524T>C (p.Ile508=) c.1473T>C (p.Ile491=) c.1392T>C (p.Ile464=) n.1776T>C | |
X | g.18604448T>G | CA412361383 | CDKL5 | c.1524T>G (p.Ile508Met) c.1473T>G (p.Ile491Met) c.1392T>G (p.Ile464Met) n.1776T>G | |
X | g.18604449G>A | CA412361385 | CDKL5 | c.1525G>A (p.Ala509Thr) c.1474G>A (p.Ala492Thr) c.1393G>A (p.Ala465Thr) n.1777G>A | |
X | g.18604449G>C | CA412361387 | CDKL5 | c.1525G>C (p.Ala509Pro) c.1474G>C (p.Ala492Pro) c.1393G>C (p.Ala465Pro) n.1777G>C | |
X | g.18604449G>T | CA412361390 | CDKL5 | c.1525G>T (p.Ala509Ser) c.1474G>T (p.Ala492Ser) c.1393G>T (p.Ala465Ser) n.1777G>T | |
X | g.18604450C>A | CA412361397 | CDKL5 | c.1526C>A (p.Ala509Glu) c.1475C>A (p.Ala492Glu) c.1394C>A (p.Ala465Glu) n.1778C>A | |
X | g.18604450C= | CA2417974411 | CDKL5 | c.1526C= (p.Ala509=) c.1475C= (p.Ala492=) c.1394C= (p.Ala465=) n.1778C= | |
X | g.18604450C>G | CA412361400 | CDKL5 | c.1526C>G (p.Ala509Gly) c.1475C>G (p.Ala492Gly) c.1394C>G (p.Ala465Gly) n.1778C>G | gnomAD v4 |
X | g.18604450C>T | CA10360389 | CDKL5 | c.1526C>T (p.Ala509Val) c.1475C>T (p.Ala492Val) c.1394C>T (p.Ala465Val) n.1778C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604451G>A | CA10360390 | CDKL5 | c.1527G>A (p.Ala509=) c.1476G>A (p.Ala492=) c.1395G>A (p.Ala465=) n.1779G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604451G>C | CA515628196 | CDKL5 | c.1527G>C (p.Ala509=) c.1476G>C (p.Ala492=) c.1395G>C (p.Ala465=) n.1779G>C | |
X | g.18604451G= | CA2417974412 | CDKL5 | c.1527G= (p.Ala509=) c.1476G= (p.Ala492=) c.1395G= (p.Ala465=) n.1779G= | |
X | g.18604451G>T | CA515628198 | CDKL5 | c.1527G>T (p.Ala509=) c.1476G>T (p.Ala492=) c.1395G>T (p.Ala465=) n.1779G>T | |
X | g.18604452G>A | CA412361407 | CDKL5 | c.1528G>A (p.Glu510Lys) c.1477G>A (p.Glu493Lys) c.1396G>A (p.Glu466Lys) n.1780G>A | |
X | g.18604452G>C | CA412361408 | CDKL5 | c.1528G>C (p.Glu510Gln) c.1477G>C (p.Glu493Gln) c.1396G>C (p.Glu466Gln) n.1780G>C | |
X | g.18604452G>T | CA412361409 | CDKL5 | c.1528G>T (p.Glu510Ter) c.1477G>T (p.Glu493Ter) c.1396G>T (p.Glu466Ter) n.1780G>T | |
X | g.18604453A>C | CA412361418 | CDKL5 | c.1529A>C (p.Glu510Ala) c.1478A>C (p.Glu493Ala) c.1397A>C (p.Glu466Ala) n.1781A>C | |
X | g.18604453A>G | CA412361415 | CDKL5 | c.1529A>G (p.Glu510Gly) c.1478A>G (p.Glu493Gly) c.1397A>G (p.Glu466Gly) n.1781A>G | |
X | g.18604453A>T | CA412361412 | CDKL5 | c.1529A>T (p.Glu510Val) c.1478A>T (p.Glu493Val) c.1397A>T (p.Glu466Val) n.1781A>T | |
X | g.18604454G>A | CA515628205 | CDKL5 | c.1530G>A (p.Glu510=) c.1479G>A (p.Glu493=) c.1398G>A (p.Glu466=) n.1782G>A | COSMIC |
X | g.18604454G>C | CA412361423 | CDKL5 | c.1530G>C (p.Glu510Asp) c.1479G>C (p.Glu493Asp) c.1398G>C (p.Glu466Asp) n.1782G>C | |
X | g.18604454G>T | CA412361425 | CDKL5 | c.1530G>T (p.Glu510Asp) c.1479G>T (p.Glu493Asp) c.1398G>T (p.Glu466Asp) n.1782G>T | |
X | g.18604455C>A | CA412361426 | CDKL5 | c.1531C>A (p.Pro511Thr) c.1480C>A (p.Pro494Thr) c.1399C>A (p.Pro467Thr) n.1783C>A | |
X | g.18604455C= | CA2417974413 | CDKL5 | c.1531C= (p.Pro511=) c.1480C= (p.Pro494=) c.1399C= (p.Pro467=) n.1783C= | |
X | g.18604455C>G | CA412361427 | CDKL5 | c.1531C>G (p.Pro511Ala) c.1480C>G (p.Pro494Ala) c.1399C>G (p.Pro467Ala) n.1783C>G | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604455C>T | CA412361428 | CDKL5 | c.1531C>T (p.Pro511Ser) c.1480C>T (p.Pro494Ser) c.1399C>T (p.Pro467Ser) n.1783C>T | |
X | g.18604456C>A | CA412361429 | CDKL5 | c.1532C>A (p.Pro511His) c.1481C>A (p.Pro494His) c.1400C>A (p.Pro467His) n.1784C>A | |
X | g.18604456C>G | CA412361430 | CDKL5 | c.1532C>G (p.Pro511Arg) c.1481C>G (p.Pro494Arg) c.1400C>G (p.Pro467Arg) n.1784C>G | |
X | g.18604456C>T | CA412361432 | CDKL5 | c.1532C>T (p.Pro511Leu) c.1481C>T (p.Pro494Leu) c.1400C>T (p.Pro467Leu) n.1784C>T | gnomAD v4 |
X | g.18604457C>A | CA515628218 | CDKL5 | c.1533C>A (p.Pro511=) c.1482C>A (p.Pro494=) c.1401C>A (p.Pro467=) n.1785C>A | |
X | g.18604457C>G | CA515628219 | CDKL5 | c.1533C>G (p.Pro511=) c.1482C>G (p.Pro494=) c.1401C>G (p.Pro467=) n.1785C>G | |
X | g.18604457C>T | CA515628220 | CDKL5 | c.1533C>T (p.Pro511=) c.1482C>T (p.Pro494=) c.1401C>T (p.Pro467=) n.1785C>T | |
X | g.18604458A= | CA2417974414 | CDKL5 | c.1534A= (p.Ser512=) c.1483A= (p.Ser495=) c.1402A= (p.Ser468=) n.1786A= | |
X | g.18604458A>C | CA412361434 | CDKL5 | c.1534A>C (p.Ser512Arg) c.1483A>C (p.Ser495Arg) c.1402A>C (p.Ser468Arg) n.1786A>C | |
X | g.18604458A>G | CA412361438 | CDKL5 | c.1534A>G (p.Ser512Gly) c.1483A>G (p.Ser495Gly) c.1402A>G (p.Ser468Gly) n.1786A>G | |
X | g.18604458A>T | CA10360391 | CDKL5 | c.1534A>T (p.Ser512Cys) c.1483A>T (p.Ser495Cys) c.1402A>T (p.Ser468Cys) n.1786A>T | dbSNP ExAC gnomAD v2 |
X | g.18604459G>A | CA412361448 | CDKL5 | c.1535G>A (p.Ser512Asn) c.1484G>A (p.Ser495Asn) c.1403G>A (p.Ser468Asn) n.1787G>A | ClinVar dbSNP |
X | g.18604459G>C | CA412361446 | CDKL5 | c.1535G>C (p.Ser512Thr) c.1484G>C (p.Ser495Thr) c.1403G>C (p.Ser468Thr) n.1787G>C | |
X | g.18604459G= | CA2417974415 | CDKL5 | c.1535G= (p.Ser512=) c.1484G= (p.Ser495=) c.1403G= (p.Ser468=) n.1787G= | |
X | g.18604459G>T | CA412361443 | CDKL5 | c.1535G>T (p.Ser512Ile) c.1484G>T (p.Ser495Ile) c.1403G>T (p.Ser468Ile) n.1787G>T | |
X | g.18604460T>A | CA412361451 | CDKL5 | c.1536T>A (p.Ser512Arg) c.1485T>A (p.Ser495Arg) c.1404T>A (p.Ser468Arg) n.1788T>A | |
X | g.18604460T>C | CA515628228 | CDKL5 | c.1536T>C (p.Ser512=) c.1485T>C (p.Ser495=) c.1404T>C (p.Ser468=) n.1788T>C | |
X | g.18604460T>G | CA412361454 | CDKL5 | c.1536T>G (p.Ser512Arg) c.1485T>G (p.Ser495Arg) c.1404T>G (p.Ser468Arg) n.1788T>G | |
X | g.18604461A>C | CA412361457 | CDKL5 | c.1537A>C (p.Thr513Pro) c.1486A>C (p.Thr496Pro) c.1405A>C (p.Thr469Pro) n.1789A>C | |
X | g.18604461A>G | CA412361461 | CDKL5 | c.1537A>G (p.Thr513Ala) c.1486A>G (p.Thr496Ala) c.1405A>G (p.Thr469Ala) n.1789A>G | |
X | g.18604461A>T | CA412361464 | CDKL5 | c.1537A>T (p.Thr513Ser) c.1486A>T (p.Thr496Ser) c.1405A>T (p.Thr469Ser) n.1789A>T | |
X | g.18604462C>A | CA412361467 | CDKL5 | c.1538C>A (p.Thr513Asn) c.1487C>A (p.Thr496Asn) c.1406C>A (p.Thr469Asn) n.1790C>A | |
X | g.18604462C>G | CA412361469 | CDKL5 | c.1538C>G (p.Thr513Ser) c.1487C>G (p.Thr496Ser) c.1406C>G (p.Thr469Ser) n.1790C>G | |
X | g.18604462C>T | CA412361472 | CDKL5 | c.1538C>T (p.Thr513Ile) c.1487C>T (p.Thr496Ile) c.1406C>T (p.Thr469Ile) n.1790C>T | COSMIC |
X | g.18604463C>A | CA515628239 | CDKL5 | c.1539C>A (p.Thr513=) c.1488C>A (p.Thr496=) c.1407C>A (p.Thr469=) n.1791C>A | |
X | g.18604463C>G | CA515628241 | CDKL5 | c.1539C>G (p.Thr513=) c.1488C>G (p.Thr496=) c.1407C>G (p.Thr469=) n.1791C>G | |
X | g.18604463C>T | CA515628243 | CDKL5 | c.1539C>T (p.Thr513=) c.1488C>T (p.Thr496=) c.1407C>T (p.Thr469=) n.1791C>T | |
X | g.18604464A>C | CA412361475 | CDKL5 | c.1540A>C (p.Ser514Arg) c.1489A>C (p.Ser497Arg) c.1408A>C (p.Ser470Arg) n.1792A>C | |
X | g.18604464A>G | CA412361478 | CDKL5 | c.1540A>G (p.Ser514Gly) c.1489A>G (p.Ser497Gly) c.1408A>G (p.Ser470Gly) n.1792A>G | ClinVar |
X | g.18604464A>T | CA412361479 | CDKL5 | c.1540A>T (p.Ser514Cys) c.1489A>T (p.Ser497Cys) c.1408A>T (p.Ser470Cys) n.1792A>T | |
X | g.18604465G>A | CA412361487 | CDKL5 | c.1541G>A (p.Ser514Asn) c.1490G>A (p.Ser497Asn) c.1409G>A (p.Ser470Asn) n.1793G>A | |
X | g.18604465G>C | CA412361485 | CDKL5 | c.1541G>C (p.Ser514Thr) c.1490G>C (p.Ser497Thr) c.1409G>C (p.Ser470Thr) n.1793G>C | |
X | g.18604465G>T | CA412361483 | CDKL5 | c.1541G>T (p.Ser514Ile) c.1490G>T (p.Ser497Ile) c.1409G>T (p.Ser470Ile) n.1793G>T | |
X | g.18604466T>A | CA412361492 | CDKL5 | c.1542T>A (p.Ser514Arg) c.1491T>A (p.Ser497Arg) c.1410T>A (p.Ser470Arg) n.1794T>A | |
X | g.18604466T>C | CA515628251 | CDKL5 | c.1542T>C (p.Ser514=) c.1491T>C (p.Ser497=) c.1410T>C (p.Ser470=) n.1794T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18604466T>G | CA412361494 | CDKL5 | c.1542T>G (p.Ser514Arg) c.1491T>G (p.Ser497Arg) c.1410T>G (p.Ser470Arg) n.1794T>G | |
X | g.18604466T= | CA2417974416 | CDKL5 | c.1542T= (p.Ser514=) c.1491T= (p.Ser497=) c.1410T= (p.Ser470=) n.1794T= | |
X | g.18604467A>C | CA515628256 | CDKL5 | c.1543A>C (p.Arg515=) c.1492A>C (p.Arg498=) c.1411A>C (p.Arg471=) n.1795A>C | |
X | g.18604467A>G | CA412361495 | CDKL5 | c.1543A>G (p.Arg515Gly) c.1492A>G (p.Arg498Gly) c.1411A>G (p.Arg471Gly) n.1795A>G | |
X | g.18604467A>T | CA412361496 | CDKL5 | c.1543A>T (p.Arg515Trp) c.1492A>T (p.Arg498Trp) c.1411A>T (p.Arg471Trp) n.1795A>T | |
X | g.18604468G>A | CA412361497 | CDKL5 | c.1544G>A (p.Arg515Lys) c.1493G>A (p.Arg498Lys) c.1412G>A (p.Arg471Lys) n.1796G>A | |
X | g.18604468G>C | CA412361499 | CDKL5 | c.1544G>C (p.Arg515Thr) c.1493G>C (p.Arg498Thr) c.1412G>C (p.Arg471Thr) n.1796G>C | |
X | g.18604468G>T | CA412361501 | CDKL5 | c.1544G>T (p.Arg515Met) c.1493G>T (p.Arg498Met) c.1412G>T (p.Arg471Met) n.1796G>T | |
X | g.18604469G>A | CA515628262 | CDKL5 | c.1545G>A (p.Arg515=) c.1494G>A (p.Arg498=) c.1413G>A (p.Arg471=) n.1797G>A | |
X | g.18604469G>C | CA412361504 | CDKL5 | c.1545G>C (p.Arg515Ser) c.1494G>C (p.Arg498Ser) c.1413G>C (p.Arg471Ser) n.1797G>C | |
X | g.18604469G>T | CA412361506 | CDKL5 | c.1545G>T (p.Arg515Ser) c.1494G>T (p.Arg498Ser) c.1413G>T (p.Arg471Ser) n.1797G>T | |
X | g.18604469_18604470delinsGT | CA2417974417 | CDKL5 | c.1545_1546delinsGT (p.Arg515=) c.1494_1495delinsGT (p.Arg498=) c.1413_1414delinsGT (p.Arg471=) n.1797_1798delinsGT | |
X | g.18604470del | CA658799609 | CDKL5 | c.1546del (p.Tyr516ThrfsTer7) c.1495del (p.Tyr499ThrfsTer7) c.1414del (p.Tyr472ThrfsTer7) n.1798del | ClinVar dbSNP |
X | g.18604470T>A | CA412361508 | CDKL5 | c.1546T>A (p.Tyr516Asn) c.1495T>A (p.Tyr499Asn) c.1414T>A (p.Tyr472Asn) n.1798T>A | |
X | g.18604470T>C | CA412361511 | CDKL5 | c.1546T>C (p.Tyr516His) c.1495T>C (p.Tyr499His) c.1414T>C (p.Tyr472His) n.1798T>C | |
X | g.18604470T>G | CA412361513 | CDKL5 | c.1546T>G (p.Tyr516Asp) c.1495T>G (p.Tyr499Asp) c.1414T>G (p.Tyr472Asp) n.1798T>G | |
X | g.18604471A>C | CA412361520 | CDKL5 | c.1547A>C (p.Tyr516Ser) c.1496A>C (p.Tyr499Ser) c.1415A>C (p.Tyr472Ser) n.1799A>C | |
X | g.18604471A>G | CA412361518 | CDKL5 | c.1547A>G (p.Tyr516Cys) c.1496A>G (p.Tyr499Cys) c.1415A>G (p.Tyr472Cys) n.1799A>G | |
X | g.18604471A>T | CA412361516 | CDKL5 | c.1547A>T (p.Tyr516Phe) c.1496A>T (p.Tyr499Phe) c.1415A>T (p.Tyr472Phe) n.1799A>T | |
X | g.18604471_18604478del | CA2695231329 | CDKL5 | c.1547_1554del (p.Tyr516PhefsTer2) c.1496_1503del (p.Tyr499PhefsTer2) c.1415_1422del (p.Tyr472PhefsTer2) n.1799_1806del | |
X | g.18604472C>A | CA412361523 | CDKL5 | c.1548C>A (p.Tyr516Ter) c.1497C>A (p.Tyr499Ter) c.1416C>A (p.Tyr472Ter) n.1800C>A | ClinVar dbSNP |
X | g.18604472C= | CA2417974418 | CDKL5 | c.1548C= (p.Tyr516=) c.1497C= (p.Tyr499=) c.1416C= (p.Tyr472=) n.1800C= | |
X | g.18604472C>G | CA412361525 | CDKL5 | c.1548C>G (p.Tyr516Ter) c.1497C>G (p.Tyr499Ter) c.1416C>G (p.Tyr472Ter) n.1800C>G | |
X | g.18604472C>T | CA10360392 | CDKL5 | c.1548C>T (p.Tyr516=) c.1497C>T (p.Tyr499=) c.1416C>T (p.Tyr472=) n.1800C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604472_18604473delinsCT | CA2417974419 | CDKL5 | c.1548_1549delinsCT (p.Tyr516=) c.1497_1498delinsCT (p.Tyr499=) c.1416_1417delinsCT (p.Tyr472=) n.1800_1801delinsCT | |
X | g.18604473T>A | CA412361534 | CDKL5 | c.1549T>A (p.Phe517Ile) c.1498T>A (p.Phe500Ile) c.1417T>A (p.Phe473Ile) n.1801T>A | |
X | g.18604473T>C | CA412361536 | CDKL5 | c.1549T>C (p.Phe517Leu) c.1498T>C (p.Phe500Leu) c.1417T>C (p.Phe473Leu) n.1801T>C | |
X | g.18604473T>G | CA412361539 | CDKL5 | c.1549T>G (p.Phe517Val) c.1498T>G (p.Phe500Val) c.1417T>G (p.Phe473Val) n.1801T>G | |
X | g.18604474del | CA199381 | CDKL5 | c.1550del (p.Phe517SerfsTer6) c.1499del (p.Phe500SerfsTer6) c.1418del (p.Phe473SerfsTer6) n.1802del | ClinVar dbSNP |
X | g.18604474T>A | CA412361548 | CDKL5 | c.1550T>A (p.Phe517Tyr) c.1499T>A (p.Phe500Tyr) c.1418T>A (p.Phe473Tyr) n.1802T>A | |
X | g.18604474T>C | CA412361546 | CDKL5 | c.1550T>C (p.Phe517Ser) c.1499T>C (p.Phe500Ser) c.1418T>C (p.Phe473Ser) n.1802T>C | |
X | g.18604474T>G | CA412361544 | CDKL5 | c.1550T>G (p.Phe517Cys) c.1499T>G (p.Phe500Cys) c.1418T>G (p.Phe473Cys) n.1802T>G | |
X | g.18604474_18604475delinsTC | CA2417974420 | CDKL5 | c.1550_1551delinsTC (p.Phe517=) c.1499_1500delinsTC (p.Phe500=) c.1418_1419delinsTC (p.Phe473=) n.1802_1803delinsTC | |
X | g.18604475C>A | CA412361551 | CDKL5 | c.1551C>A (p.Phe517Leu) c.1500C>A (p.Phe500Leu) c.1419C>A (p.Phe473Leu) n.1803C>A | |
X | g.18604475C>G | CA412361554 | CDKL5 | c.1551C>G (p.Phe517Leu) c.1500C>G (p.Phe500Leu) c.1419C>G (p.Phe473Leu) n.1803C>G | |
X | g.18604475C>T | CA515628286 | CDKL5 | c.1551C>T (p.Phe517=) c.1500C>T (p.Phe500=) c.1419C>T (p.Phe473=) n.1803C>T | |
X | g.18604477del | CA10604833 | CDKL5 | c.1553del (p.Pro518HisfsTer5) c.1502del (p.Pro501HisfsTer5) c.1421del (p.Pro474HisfsTer5) n.1805del | ClinVar dbSNP |
X | g.18604476C>A | CA412361558 | CDKL5 | c.1552C>A (p.Pro518Thr) c.1501C>A (p.Pro501Thr) c.1420C>A (p.Pro474Thr) n.1804C>A | |
X | g.18604476C>G | CA412361560 | CDKL5 | c.1552C>G (p.Pro518Ala) c.1501C>G (p.Pro501Ala) c.1420C>G (p.Pro474Ala) n.1804C>G | |
X | g.18604476C>T | CA412361565 | CDKL5 | c.1552C>T (p.Pro518Ser) c.1501C>T (p.Pro501Ser) c.1420C>T (p.Pro474Ser) n.1804C>T | ClinVar |
X | g.18604477C>A | CA412361569 | CDKL5 | c.1553C>A (p.Pro518Gln) c.1502C>A (p.Pro501Gln) c.1421C>A (p.Pro474Gln) n.1805C>A | |
X | g.18604477C>G | CA412361588 | CDKL5 | c.1553C>G (p.Pro518Arg) c.1502C>G (p.Pro501Arg) c.1421C>G (p.Pro474Arg) n.1805C>G | |
X | g.18604477C>T | CA412361585 | CDKL5 | c.1553C>T (p.Pro518Leu) c.1502C>T (p.Pro501Leu) c.1421C>T (p.Pro474Leu) n.1805C>T | COSMIC |
X | g.18604478A= | CA2417974421 | CDKL5 | c.1554A= (p.Pro518=) c.1503A= (p.Pro501=) c.1422A= (p.Pro474=) n.1806A= | |
X | g.18604478A>C | CA515628300 | CDKL5 | c.1554A>C (p.Pro518=) c.1503A>C (p.Pro501=) c.1422A>C (p.Pro474=) n.1806A>C | |
X | g.18604478A>G | CA10360393 | CDKL5 | c.1554A>G (p.Pro518=) c.1503A>G (p.Pro501=) c.1422A>G (p.Pro474=) n.1806A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604478A>T | CA515628306 | CDKL5 | c.1554A>T (p.Pro518=) c.1503A>T (p.Pro501=) c.1422A>T (p.Pro474=) n.1806A>T | |
X | g.18604479T>A | CA412361591 | CDKL5 | c.1555T>A (p.Ser519Thr) c.1504T>A (p.Ser502Thr) c.1423T>A (p.Ser475Thr) n.1807T>A | |
X | g.18604479T>C | CA412361594 | CDKL5 | c.1555T>C (p.Ser519Pro) c.1504T>C (p.Ser502Pro) c.1423T>C (p.Ser475Pro) n.1807T>C | ClinVar |
X | g.18604479T>G | CA412361597 | CDKL5 | c.1555T>G (p.Ser519Ala) c.1504T>G (p.Ser502Ala) c.1423T>G (p.Ser475Ala) n.1807T>G | |
X | g.18604480C>A | CA412361599 | CDKL5 | c.1556C>A (p.Ser519Tyr) c.1505C>A (p.Ser502Tyr) c.1424C>A (p.Ser475Tyr) n.1808C>A | |
X | g.18604480C>G | CA412361602 | CDKL5 | c.1556C>G (p.Ser519Cys) c.1505C>G (p.Ser502Cys) c.1424C>G (p.Ser475Cys) n.1808C>G | gnomAD v4 |
X | g.18604480C>T | CA412361605 | CDKL5 | c.1556C>T (p.Ser519Phe) c.1505C>T (p.Ser502Phe) c.1424C>T (p.Ser475Phe) n.1808C>T | |
X | g.18604481T>A | CA515628311 | CDKL5 | c.1557T>A (p.Ser519=) c.1506T>A (p.Ser502=) c.1425T>A (p.Ser475=) n.1809T>A | |
X | g.18604481T>C | CA515628319 | CDKL5 | c.1557T>C (p.Ser519=) c.1506T>C (p.Ser502=) c.1425T>C (p.Ser475=) n.1809T>C | |
X | g.18604481T>G | CA515628315 | CDKL5 | c.1557T>G (p.Ser519=) c.1506T>G (p.Ser502=) c.1425T>G (p.Ser475=) n.1809T>G | |
X | g.18604482A>C | CA412361610 | CDKL5 | c.1558A>C (p.Ser520Arg) c.1507A>C (p.Ser503Arg) c.1426A>C (p.Ser476Arg) n.1810A>C | |
X | g.18604482A>G | CA412361613 | CDKL5 | c.1558A>G (p.Ser520Gly) c.1507A>G (p.Ser503Gly) c.1426A>G (p.Ser476Gly) n.1810A>G | |
X | g.18604482A>T | CA412361616 | CDKL5 | c.1558A>T (p.Ser520Cys) c.1507A>T (p.Ser503Cys) c.1426A>T (p.Ser476Cys) n.1810A>T | |
X | g.18604483G>A | CA412361620 | CDKL5 | c.1559G>A (p.Ser520Asn) c.1508G>A (p.Ser503Asn) c.1427G>A (p.Ser476Asn) n.1811G>A | dbSNP |
X | g.18604483G>C | CA412361623 | CDKL5 | c.1559G>C (p.Ser520Thr) c.1508G>C (p.Ser503Thr) c.1427G>C (p.Ser476Thr) n.1811G>C | |
X | g.18604483G= | CA2417974422 | CDKL5 | c.1559G= (p.Ser520=) c.1508G= (p.Ser503=) c.1427G= (p.Ser476=) n.1811G= | |
X | g.18604483G>T | CA412361621 | CDKL5 | c.1559G>T (p.Ser520Ile) c.1508G>T (p.Ser503Ile) c.1427G>T (p.Ser476Ile) n.1811G>T | |
X | g.18604484C>A | CA412361625 | CDKL5 | c.1560C>A (p.Ser520Arg) c.1509C>A (p.Ser503Arg) c.1428C>A (p.Ser476Arg) n.1812C>A | |
X | g.18604484C>G | CA412361626 | CDKL5 | c.1560C>G (p.Ser520Arg) c.1509C>G (p.Ser503Arg) c.1428C>G (p.Ser476Arg) n.1812C>G | |
X | g.18604484C>T | CA515628334 | CDKL5 | c.1560C>T (p.Ser520=) c.1509C>T (p.Ser503=) c.1428C>T (p.Ser476=) n.1812C>T | |
X | g.18604485T>A | CA412361629 | CDKL5 | c.1561T>A (p.Cys521Ser) c.1510T>A (p.Cys504Ser) c.1429T>A (p.Cys477Ser) n.1813T>A | |
X | g.18604485T>C | CA412361631 | CDKL5 | c.1561T>C (p.Cys521Arg) c.1510T>C (p.Cys504Arg) c.1429T>C (p.Cys477Arg) n.1813T>C | |
X | g.18604485T>G | CA412361633 | CDKL5 | c.1561T>G (p.Cys521Gly) c.1510T>G (p.Cys504Gly) c.1429T>G (p.Cys477Gly) n.1813T>G | |
X | g.18604486G>A | CA326987829 | CDKL5 | c.1562G>A (p.Cys521Tyr) c.1511G>A (p.Cys504Tyr) c.1430G>A (p.Cys477Tyr) n.1814G>A | dbSNP |
X | g.18604486G>C | CA412361637 | CDKL5 | c.1562G>C (p.Cys521Ser) c.1511G>C (p.Cys504Ser) c.1430G>C (p.Cys477Ser) n.1814G>C | |
X | g.18604486G= | CA2417974423 | CDKL5 | c.1562G= (p.Cys521=) c.1511G= (p.Cys504=) c.1430G= (p.Cys477=) n.1814G= | |
X | g.18604486G>T | CA412361640 | CDKL5 | c.1562G>T (p.Cys521Phe) c.1511G>T (p.Cys504Phe) c.1430G>T (p.Cys477Phe) n.1814G>T | |
X | g.18604487C>A | CA412361642 | CDKL5 | c.1563C>A (p.Cys521Ter) c.1512C>A (p.Cys504Ter) c.1431C>A (p.Cys477Ter) n.1815C>A | |
X | g.18604487C>G | CA412361645 | CDKL5 | c.1563C>G (p.Cys521Trp) c.1512C>G (p.Cys504Trp) c.1431C>G (p.Cys477Trp) n.1815C>G | |
X | g.18604487C>T | CA515628344 | CDKL5 | c.1563C>T (p.Cys521=) c.1512C>T (p.Cys504=) c.1431C>T (p.Cys477=) n.1815C>T | |
X | g.18604488T>A | CA412361648 | CDKL5 | c.1564T>A (p.Leu522Ile) c.1513T>A (p.Leu505Ile) c.1432T>A (p.Leu478Ile) n.1816T>A | |
X | g.18604488T>C | CA515628350 | CDKL5 | c.1564T>C (p.Leu522=) c.1513T>C (p.Leu505=) c.1432T>C (p.Leu478=) n.1816T>C | |
X | g.18604488T>G | CA10360394 | CDKL5 | c.1564T>G (p.Leu522Val) c.1513T>G (p.Leu505Val) c.1432T>G (p.Leu478Val) n.1816T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604488T= | CA2417974424 | CDKL5 | c.1564T= (p.Leu522=) c.1513T= (p.Leu505=) c.1432T= (p.Leu478=) n.1816T= | |
X | g.18604489T>A | CA412361658 | CDKL5 | c.1565T>A (p.Leu522Ter) c.1514T>A (p.Leu505Ter) c.1433T>A (p.Leu478Ter) n.1817T>A | |
X | g.18604489T>C | CA412361653 | CDKL5 | c.1565T>C (p.Leu522Ser) c.1514T>C (p.Leu505Ser) c.1433T>C (p.Leu478Ser) n.1817T>C | |
X | g.18604489T>G | CA412361655 | CDKL5 | c.1565T>G (p.Leu522Ter) c.1514T>G (p.Leu505Ter) c.1433T>G (p.Leu478Ter) n.1817T>G | |
X | g.18604490A>C | CA412361661 | CDKL5 | c.1566A>C (p.Leu522Phe) c.1515A>C (p.Leu505Phe) c.1434A>C (p.Leu478Phe) n.1818A>C | |
X | g.18604490A>G | CA515628358 | CDKL5 | c.1566A>G (p.Leu522=) c.1515A>G (p.Leu505=) c.1434A>G (p.Leu478=) n.1818A>G | |
X | g.18604490A>T | CA412361664 | CDKL5 | c.1566A>T (p.Leu522Phe) c.1515A>T (p.Leu505Phe) c.1434A>T (p.Leu478Phe) n.1818A>T | |
X | g.18604491G>A | CA412361667 | CDKL5 | c.1567G>A (p.Asp523Asn) c.1516G>A (p.Asp506Asn) c.1435G>A (p.Asp479Asn) n.1819G>A | |
X | g.18604491G>C | CA412361669 | CDKL5 | c.1567G>C (p.Asp523His) c.1516G>C (p.Asp506His) c.1435G>C (p.Asp479His) n.1819G>C | |
X | g.18604491G>T | CA412361672 | CDKL5 | c.1567G>T (p.Asp523Tyr) c.1516G>T (p.Asp506Tyr) c.1435G>T (p.Asp479Tyr) n.1819G>T | |
X | g.18604492del | CA2695231332 | CDKL5 | c.1568del (p.Asp523AlafsTer2) c.1517del (p.Asp506AlafsTer2) c.1436del (p.Asp479AlafsTer2) n.1820del | |
X | g.18604492A>C | CA412361675 | CDKL5 | c.1568A>C (p.Asp523Ala) c.1517A>C (p.Asp506Ala) c.1436A>C (p.Asp479Ala) n.1820A>C | |
X | g.18604492A>G | CA412361677 | CDKL5 | c.1568A>G (p.Asp523Gly) c.1517A>G (p.Asp506Gly) c.1436A>G (p.Asp479Gly) n.1820A>G | |
X | g.18604492A>T | CA412361680 | CDKL5 | c.1568A>T (p.Asp523Val) c.1517A>T (p.Asp506Val) c.1436A>T (p.Asp479Val) n.1820A>T | |
X | g.18604493C>A | CA412361683 | CDKL5 | c.1569C>A (p.Asp523Glu) c.1518C>A (p.Asp506Glu) c.1437C>A (p.Asp479Glu) n.1821C>A | |
X | g.18604493C= | CA2417974425 | CDKL5 | c.1569C= (p.Asp523=) c.1518C= (p.Asp506=) c.1437C= (p.Asp479=) n.1821C= | |
X | g.18604493C>G | CA412361686 | CDKL5 | c.1569C>G (p.Asp523Glu) c.1518C>G (p.Asp506Glu) c.1437C>G (p.Asp479Glu) n.1821C>G | |
X | g.18604493C>T | CA515628377 | CDKL5 | c.1569C>T (p.Asp523=) c.1518C>T (p.Asp506=) c.1437C>T (p.Asp479=) n.1821C>T | dbSNP |
X | g.18604494T>A | CA412361690 | CDKL5 | c.1570T>A (p.Leu524Met) c.1519T>A (p.Leu507Met) c.1438T>A (p.Leu480Met) n.1822T>A | |
X | g.18604494T>C | CA515628379 | CDKL5 | c.1570T>C (p.Leu524=) c.1519T>C (p.Leu507=) c.1438T>C (p.Leu480=) n.1822T>C | |
X | g.18604494T>G | CA412361692 | CDKL5 | c.1570T>G (p.Leu524Val) c.1519T>G (p.Leu507Val) c.1438T>G (p.Leu480Val) n.1822T>G | |
X | g.18604495T>A | CA412361696 | CDKL5 | c.1571T>A (p.Leu524Ter) c.1520T>A (p.Leu507Ter) c.1439T>A (p.Leu480Ter) n.1823T>A | |
X | g.18604495T>C | CA412361699 | CDKL5 | c.1571T>C (p.Leu524Ser) c.1520T>C (p.Leu507Ser) c.1439T>C (p.Leu480Ser) n.1823T>C | |
X | g.18604495T>G | CA412361695 | CDKL5 | c.1571T>G (p.Leu524Trp) c.1520T>G (p.Leu507Trp) c.1439T>G (p.Leu480Trp) n.1823T>G | |
X | g.18604496G>A | CA515627746 | CDKL5 | c.1572G>A (p.Leu524=) c.1521G>A (p.Leu507=) c.1440G>A (p.Leu480=) n.1824G>A | gnomAD v4 COSMIC |
X | g.18604496G>C | CA412361706 | CDKL5 | c.1572G>C (p.Leu524Phe) c.1521G>C (p.Leu507Phe) c.1440G>C (p.Leu480Phe) n.1824G>C | |
X | g.18604496G>T | CA412361703 | CDKL5 | c.1572G>T (p.Leu524Phe) c.1521G>T (p.Leu507Phe) c.1440G>T (p.Leu480Phe) n.1824G>T | |
X | g.18604497A>C | CA412361709 | CDKL5 | c.1573A>C (p.Asn525His) c.1522A>C (p.Asn508His) c.1441A>C (p.Asn481His) n.1825A>C | |
X | g.18604497A>G | CA412361712 | CDKL5 | c.1573A>G (p.Asn525Asp) c.1522A>G (p.Asn508Asp) c.1441A>G (p.Asn481Asp) n.1825A>G | |
X | g.18604497A>T | CA412361714 | CDKL5 | c.1573A>T (p.Asn525Tyr) c.1522A>T (p.Asn508Tyr) c.1441A>T (p.Asn481Tyr) n.1825A>T | |
X | g.18604498A= | CA2417974426 | CDKL5 | c.1574A= (p.Asn525=) c.1523A= (p.Asn508=) c.1442A= (p.Asn481=) n.1826A= | |
X | g.18604498A>C | CA412361717 | CDKL5 | c.1574A>C (p.Asn525Thr) c.1523A>C (p.Asn508Thr) c.1442A>C (p.Asn481Thr) n.1826A>C | |
X | g.18604498A>G | CA326987833 | CDKL5 | c.1574A>G (p.Asn525Ser) c.1523A>G (p.Asn508Ser) c.1442A>G (p.Asn481Ser) n.1826A>G | dbSNP |
X | g.18604498A>T | CA412361720 | CDKL5 | c.1574A>T (p.Asn525Ile) c.1523A>T (p.Asn508Ile) c.1442A>T (p.Asn481Ile) n.1826A>T | |
X | g.18604499T>A | CA412361726 | CDKL5 | c.1575T>A (p.Asn525Lys) c.1524T>A (p.Asn508Lys) c.1443T>A (p.Asn481Lys) n.1827T>A | |
X | g.18604499T>C | CA515627750 | CDKL5 | c.1575T>C (p.Asn525=) c.1524T>C (p.Asn508=) c.1443T>C (p.Asn481=) n.1827T>C | |
X | g.18604499T>G | CA412361723 | CDKL5 | c.1575T>G (p.Asn525Lys) c.1524T>G (p.Asn508Lys) c.1443T>G (p.Asn481Lys) n.1827T>G | |
X | g.18604500T>A | CA412361729 | CDKL5 | c.1576T>A (p.Ser526Thr) c.1525T>A (p.Ser509Thr) c.1444T>A (p.Ser482Thr) n.1828T>A | |
X | g.18604500T>C | CA412361732 | CDKL5 | c.1576T>C (p.Ser526Pro) c.1525T>C (p.Ser509Pro) c.1444T>C (p.Ser482Pro) n.1828T>C | |
X | g.18604500T>G | CA412361740 | CDKL5 | c.1576T>G (p.Ser526Ala) c.1525T>G (p.Ser509Ala) c.1444T>G (p.Ser482Ala) n.1828T>G | gnomAD v4 |
X | g.18604501C>A | CA412361744 | CDKL5 | c.1577C>A (p.Ser526Tyr) c.1526C>A (p.Ser509Tyr) c.1445C>A (p.Ser482Tyr) n.1829C>A | |
X | g.18604501C= | CA2417974427 | CDKL5 | c.1577C= (p.Ser526=) c.1526C= (p.Ser509=) c.1445C= (p.Ser482=) n.1829C= | |
X | g.18604501C>G | CA412361746 | CDKL5 | c.1577C>G (p.Ser526Cys) c.1526C>G (p.Ser509Cys) c.1445C>G (p.Ser482Cys) n.1829C>G | gnomAD v4 |
X | g.18604501C>T | CA412361749 | CDKL5 | c.1577C>T (p.Ser526Phe) c.1526C>T (p.Ser509Phe) c.1445C>T (p.Ser482Phe) n.1829C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.18604502T>A | CA515627757 | CDKL5 | c.1578T>A (p.Ser526=) c.1527T>A (p.Ser509=) c.1446T>A (p.Ser482=) n.1830T>A | |
X | g.18604502T>C | CA515627758 | CDKL5 | c.1578T>C (p.Ser526=) c.1527T>C (p.Ser509=) c.1446T>C (p.Ser482=) n.1830T>C | dbSNP gnomAD v4 |
X | g.18604502T>G | CA515627759 | CDKL5 | c.1578T>G (p.Ser526=) c.1527T>G (p.Ser509=) c.1446T>G (p.Ser482=) n.1830T>G | |
X | g.18604502T= | CA2417974428 | CDKL5 | c.1578T= (p.Ser526=) c.1527T= (p.Ser509=) c.1446T= (p.Ser482=) n.1830T= | |
X | g.18604503C>A | CA412361752 | CDKL5 | c.1579C>A (p.Pro527Thr) c.1528C>A (p.Pro510Thr) c.1447C>A (p.Pro483Thr) n.1831C>A | |
X | g.18604503C= | CA2417974429 | CDKL5 | c.1579C= (p.Pro527=) c.1528C= (p.Pro510=) c.1447C= (p.Pro483=) n.1831C= | |
X | g.18604503C>G | CA412361759 | CDKL5 | c.1579C>G (p.Pro527Ala) c.1528C>G (p.Pro510Ala) c.1447C>G (p.Pro483Ala) n.1831C>G | |
X | g.18604503C>T | CA412361753 | CDKL5 | c.1579C>T (p.Pro527Ser) c.1528C>T (p.Pro510Ser) c.1447C>T (p.Pro483Ser) n.1831C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604505del | CA2695231302 | CDKL5 | c.1581del (p.Thr528ProfsTer?) c.1530del (p.Thr511ProfsTer?) c.1449del (p.Thr484ProfsTer?) n.1833del | |
X | g.18604504C>A | CA412361762 | CDKL5 | c.1580C>A (p.Pro527His) c.1529C>A (p.Pro510His) c.1448C>A (p.Pro483His) n.1832C>A | |
X | g.18604504C= | CA2417974430 | CDKL5 | c.1580C= (p.Pro527=) c.1529C= (p.Pro510=) c.1448C= (p.Pro483=) n.1832C= | |
X | g.18604504C>G | CA412361765 | CDKL5 | c.1580C>G (p.Pro527Arg) c.1529C>G (p.Pro510Arg) c.1448C>G (p.Pro483Arg) n.1832C>G | |
X | g.18604504C>T | CA10360395 | CDKL5 | c.1580C>T (p.Pro527Leu) c.1529C>T (p.Pro510Leu) c.1448C>T (p.Pro483Leu) n.1832C>T | ClinVar dbSNP ExAC |
X | g.18604505C>A | CA515627763 | CDKL5 | c.1581C>A (p.Pro527=) c.1530C>A (p.Pro510=) c.1449C>A (p.Pro483=) n.1833C>A | |
X | g.18604505C>G | CA515627764 | CDKL5 | c.1581C>G (p.Pro527=) c.1530C>G (p.Pro510=) c.1449C>G (p.Pro483=) n.1833C>G | |
X | g.18604505C>T | CA515627765 | CDKL5 | c.1581C>T (p.Pro527=) c.1530C>T (p.Pro510=) c.1449C>T (p.Pro483=) n.1833C>T | |
X | g.18604506A>C | CA412361770 | CDKL5 | c.1582A>C (p.Thr528Pro) c.1531A>C (p.Thr511Pro) c.1450A>C (p.Thr484Pro) n.1834A>C | |
X | g.18604506A>G | CA412361774 | CDKL5 | c.1582A>G (p.Thr528Ala) c.1531A>G (p.Thr511Ala) c.1450A>G (p.Thr484Ala) n.1834A>G | gnomAD v4 |
X | g.18604506A>T | CA412361777 | CDKL5 | c.1582A>T (p.Thr528Ser) c.1531A>T (p.Thr511Ser) c.1450A>T (p.Thr484Ser) n.1834A>T | |
X | g.18604507C>A | CA412361780 | CDKL5 | c.1583C>A (p.Thr528Asn) c.1532C>A (p.Thr511Asn) c.1451C>A (p.Thr484Asn) n.1835C>A | gnomAD v4 |
X | g.18604507C>G | CA412361783 | CDKL5 | c.1583C>G (p.Thr528Ser) c.1532C>G (p.Thr511Ser) c.1451C>G (p.Thr484Ser) n.1835C>G | |
X | g.18604507C>T | CA412361786 | CDKL5 | c.1583C>T (p.Thr528Ile) c.1532C>T (p.Thr511Ile) c.1451C>T (p.Thr484Ile) n.1835C>T | gnomAD v4 |
X | g.18604508dup | CA2499226536 | CDKL5 | c.1584dup (p.Ser529GlnfsTer9) c.1533dup (p.Ser512GlnfsTer9) c.1452dup (p.Ser485GlnfsTer9) n.1836dup | ClinVar dbSNP |
X | g.18604508C>A | CA515627771 | CDKL5 | c.1584C>A (p.Thr528=) c.1533C>A (p.Thr511=) c.1452C>A (p.Thr484=) n.1836C>A | |
X | g.18604508C>G | CA515627773 | CDKL5 | c.1584C>G (p.Thr528=) c.1533C>G (p.Thr511=) c.1452C>G (p.Thr484=) n.1836C>G | |
X | g.18604508C>T | CA515627774 | CDKL5 | c.1584C>T (p.Thr528=) c.1533C>T (p.Thr511=) c.1452C>T (p.Thr484=) n.1836C>T | |
X | g.18604509A= | CA2417974431 | CDKL5 | c.1585A= (p.Ser529=) c.1534A= (p.Ser512=) c.1453A= (p.Ser485=) n.1837A= | |
X | g.18604509A>C | CA326987836 | CDKL5 | c.1585A>C (p.Ser529Arg) c.1534A>C (p.Ser512Arg) c.1453A>C (p.Ser485Arg) n.1837A>C | dbSNP |
X | g.18604509A>G | CA412361789 | CDKL5 | c.1585A>G (p.Ser529Gly) c.1534A>G (p.Ser512Gly) c.1453A>G (p.Ser485Gly) n.1837A>G | |
X | g.18604509A>T | CA412361793 | CDKL5 | c.1585A>T (p.Ser529Cys) c.1534A>T (p.Ser512Cys) c.1453A>T (p.Ser485Cys) n.1837A>T | |
X | g.18604510G>A | CA412361796 | CDKL5 | c.1586G>A (p.Ser529Asn) c.1535G>A (p.Ser512Asn) c.1454G>A (p.Ser485Asn) n.1838G>A | |
X | g.18604510G>C | CA10360396 | CDKL5 | c.1586G>C (p.Ser529Thr) c.1535G>C (p.Ser512Thr) c.1454G>C (p.Ser485Thr) n.1838G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604510G= | CA2417974432 | CDKL5 | c.1586G= (p.Ser529=) c.1535G= (p.Ser512=) c.1454G= (p.Ser485=) n.1838G= | |
X | g.18604510G>T | CA412361803 | CDKL5 | c.1586G>T (p.Ser529Ile) c.1535G>T (p.Ser512Ile) c.1454G>T (p.Ser485Ile) n.1838G>T | dbSNP |
X | g.18604511C>A | CA412361809 | CDKL5 | c.1587C>A (p.Ser529Arg) c.1536C>A (p.Ser512Arg) c.1455C>A (p.Ser485Arg) n.1839C>A | |
X | g.18604511C>G | CA412361811 | CDKL5 | c.1587C>G (p.Ser529Arg) c.1536C>G (p.Ser512Arg) c.1455C>G (p.Ser485Arg) n.1839C>G | |
X | g.18604511C>T | CA515627781 | CDKL5 | c.1587C>T (p.Ser529=) c.1536C>T (p.Ser512=) c.1455C>T (p.Ser485=) n.1839C>T | |
X | g.18604512C>A | CA412361815 | CDKL5 | c.1588C>A (p.Pro530Thr) c.1537C>A (p.Pro513Thr) c.1456C>A (p.Pro486Thr) n.1840C>A | |
X | g.18604512C>G | CA412361818 | CDKL5 | c.1588C>G (p.Pro530Ala) c.1537C>G (p.Pro513Ala) c.1456C>G (p.Pro486Ala) n.1840C>G | |
X | g.18604512C>T | CA412361820 | CDKL5 | c.1588C>T (p.Pro530Ser) c.1537C>T (p.Pro513Ser) c.1456C>T (p.Pro486Ser) n.1840C>T | |
X | g.18604513C>A | CA412361825 | CDKL5 | c.1589C>A (p.Pro530Gln) c.1538C>A (p.Pro513Gln) c.1457C>A (p.Pro486Gln) n.1841C>A | |
X | g.18604513C>G | CA412361828 | CDKL5 | c.1589C>G (p.Pro530Arg) c.1538C>G (p.Pro513Arg) c.1457C>G (p.Pro486Arg) n.1841C>G | |
X | g.18604513C>T | CA412361831 | CDKL5 | c.1589C>T (p.Pro530Leu) c.1538C>T (p.Pro513Leu) c.1457C>T (p.Pro486Leu) n.1841C>T | COSMIC |
X | g.18604515_18604528del | CA2695231304 | CDKL5 | c.1591_1604del (p.Thr531GlnfsTer2) c.1540_1553del (p.Thr514GlnfsTer2) c.1459_1472del (p.Thr487GlnfsTer2) n.1843_1856del | |
X | g.18604514A= | CA2417974433 | CDKL5 | c.1590A= (p.Pro530=) c.1539A= (p.Pro513=) c.1458A= (p.Pro486=) n.1842A= | |
X | g.18604514A>C | CA326987840 | CDKL5 | c.1590A>C (p.Pro530=) c.1539A>C (p.Pro513=) c.1458A>C (p.Pro486=) n.1842A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18604514A>G | CA515627784 | CDKL5 | c.1590A>G (p.Pro530=) c.1539A>G (p.Pro513=) c.1458A>G (p.Pro486=) n.1842A>G | |
X | g.18604514A>T | CA515627785 | CDKL5 | c.1590A>T (p.Pro530=) c.1539A>T (p.Pro513=) c.1458A>T (p.Pro486=) n.1842A>T | |
X | g.18604515A= | CA2417974434 | CDKL5 | c.1591A= (p.Thr531=) c.1540A= (p.Thr514=) c.1459A= (p.Thr487=) n.1843A= | |
X | g.18604515A>C | CA412361836 | CDKL5 | c.1591A>C (p.Thr531Pro) c.1540A>C (p.Thr514Pro) c.1459A>C (p.Thr487Pro) n.1843A>C | |
X | g.18604515A>G | CA213381 | CDKL5 | c.1591A>G (p.Thr531Ala) c.1540A>G (p.Thr514Ala) c.1459A>G (p.Thr487Ala) n.1843A>G | ClinVar dbSNP ExAC gnomAD v2 |
X | g.18604515A>T | CA412361844 | CDKL5 | c.1591A>T (p.Thr531Ser) c.1540A>T (p.Thr514Ser) c.1459A>T (p.Thr487Ser) n.1843A>T | |
X | g.18604515_18604516insACA | CA2819902189 | CDKL5 | c.1591_1592insACA (p.Pro530_Thr531insAsn) c.1540_1541insACA (p.Pro513_Thr514insAsn) c.1459_1460insACA (p.Pro486_Thr487insAsn) n.1843_1844insACA | |
X | g.18604515_18604516delinsAC | CA2417974435 | CDKL5 | c.1591_1592delinsAC (p.Thr531=) c.1540_1541delinsAC (p.Thr514=) c.1459_1460delinsAC (p.Thr487=) n.1843_1844delinsAC | |
X | g.18604516C>A | CA412361853 | CDKL5 | c.1592C>A (p.Thr531Asn) c.1541C>A (p.Thr514Asn) c.1460C>A (p.Thr487Asn) n.1844C>A | |
X | g.18604516C= | CA2417974436 | CDKL5 | c.1592C= (p.Thr531=) c.1541C= (p.Thr514=) c.1460C= (p.Thr487=) n.1844C= | |
X | g.18604516C>G | CA412361850 | CDKL5 | c.1592C>G (p.Thr531Ser) c.1541C>G (p.Thr514Ser) c.1460C>G (p.Thr487Ser) n.1844C>G | |
X | g.18604516C>T | CA412361848 | CDKL5 | c.1592C>T (p.Thr531Ile) c.1541C>T (p.Thr514Ile) c.1460C>T (p.Thr487Ile) n.1844C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18604518_18604519insACCCC | CA2819902193 | CDKL5 | c.1594_1595insACCCC (p.Pro532HisfsTer?) c.1543_1544insACCCC (p.Pro515HisfsTer?) c.1462_1463insACCCC (p.Pro488HisfsTer?) n.1846_1847insACCCC | |
X | g.18604520del | CA658825120 | CDKL5 | c.1596del (p.Thr533ProfsTer?) c.1545del (p.Thr516ProfsTer?) c.1464del (p.Thr489ProfsTer?) n.1848del | ClinVar dbSNP |
X | g.18604517C>A | CA515627791 | CDKL5 | c.1593C>A (p.Thr531=) c.1542C>A (p.Thr514=) c.1461C>A (p.Thr487=) n.1845C>A | |
X | g.18604517C>G | CA515627790 | CDKL5 | c.1593C>G (p.Thr531=) c.1542C>G (p.Thr514=) c.1461C>G (p.Thr487=) n.1845C>G | |
X | g.18604517C>T | CA515627789 | CDKL5 | c.1593C>T (p.Thr531=) c.1542C>T (p.Thr514=) c.1461C>T (p.Thr487=) n.1845C>T | |
X | g.18604518C>A | CA412361857 | CDKL5 | c.1594C>A (p.Pro532Thr) c.1543C>A (p.Pro515Thr) c.1462C>A (p.Pro488Thr) n.1846C>A | |
X | g.18604518C>G | CA412361859 | CDKL5 | c.1594C>G (p.Pro532Ala) c.1543C>G (p.Pro515Ala) c.1462C>G (p.Pro488Ala) n.1846C>G | gnomAD v4 |
X | g.18604518C>T | CA412361860 | CDKL5 | c.1594C>T (p.Pro532Ser) c.1543C>T (p.Pro515Ser) c.1462C>T (p.Pro488Ser) n.1846C>T | gnomAD v4 |
X | g.18604519C>A | CA412361863 | CDKL5 | c.1595C>A (p.Pro532His) c.1544C>A (p.Pro515His) c.1463C>A (p.Pro488His) n.1847C>A | |
X | g.18604519C>G | CA412361866 | CDKL5 | c.1595C>G (p.Pro532Arg) c.1544C>G (p.Pro515Arg) c.1463C>G (p.Pro488Arg) n.1847C>G | |
X | g.18604519C>T | CA412361869 | CDKL5 | c.1595C>T (p.Pro532Leu) c.1544C>T (p.Pro515Leu) c.1463C>T (p.Pro488Leu) n.1847C>T | COSMIC |
X | g.18604520C>A | CA326987843 | CDKL5 | c.1596C>A (p.Pro532=) c.1545C>A (p.Pro515=) c.1464C>A (p.Pro488=) n.1848C>A | dbSNP gnomAD v4 |
X | g.18604520C= | CA2417974437 | CDKL5 | c.1596C= (p.Pro532=) c.1545C= (p.Pro515=) c.1464C= (p.Pro488=) n.1848C= | |
X | g.18604520C>G | CA515627794 | CDKL5 | c.1596C>G (p.Pro532=) c.1545C>G (p.Pro515=) c.1464C>G (p.Pro488=) n.1848C>G | |
X | g.18604520C>T | CA515627795 | CDKL5 | c.1596C>T (p.Pro532=) c.1545C>T (p.Pro515=) c.1464C>T (p.Pro488=) n.1848C>T | ClinVar |
X | g.18604521A>C | CA412361873 | CDKL5 | c.1597A>C (p.Thr533Pro) c.1546A>C (p.Thr516Pro) c.1465A>C (p.Thr489Pro) n.1849A>C | |
X | g.18604521A>G | CA412361874 | CDKL5 | c.1597A>G (p.Thr533Ala) c.1546A>G (p.Thr516Ala) c.1465A>G (p.Thr489Ala) n.1849A>G | |
X | g.18604521A>T | CA412361883 | CDKL5 | c.1597A>T (p.Thr533Ser) c.1546A>T (p.Thr516Ser) c.1465A>T (p.Thr489Ser) n.1849A>T | |
X | g.18604521_18604522insAACACAC | CA2819902202 | CDKL5 | c.1597_1598insAACACAC (p.Thr533LysfsTer7) c.1546_1547insAACACAC (p.Thr516LysfsTer7) c.1465_1466insAACACAC (p.Thr489LysfsTer7) n.1849_1850insAACACAC | |
X | g.18604522C>A | CA412361886 | CDKL5 | c.1598C>A (p.Thr533Asn) c.1547C>A (p.Thr516Asn) c.1466C>A (p.Thr489Asn) n.1850C>A | |
X | g.18604522C= | CA2417974438 | CDKL5 | c.1598C= (p.Thr533=) c.1547C= (p.Thr516=) c.1466C= (p.Thr489=) n.1850C= | |
X | g.18604522C>G | CA412361887 | CDKL5 | c.1598C>G (p.Thr533Ser) c.1547C>G (p.Thr516Ser) c.1466C>G (p.Thr489Ser) n.1850C>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.18604522C>T | CA412361889 | CDKL5 | c.1598C>T (p.Thr533Ile) c.1547C>T (p.Thr516Ile) c.1466C>T (p.Thr489Ile) n.1850C>T | |
X | g.18604522_18604525del | CA2819902203 | CDKL5 | c.1598_1601del (p.Thr533AsnfsTer?) c.1547_1550del (p.Thr516AsnfsTer?) c.1466_1469del (p.Thr489AsnfsTer?) n.1850_1853del | |
X | g.18604523C>A | CA515627799 | CDKL5 | c.1599C>A (p.Thr533=) c.1548C>A (p.Thr516=) c.1467C>A (p.Thr489=) n.1851C>A | |
X | g.18604523C>G | CA515627801 | CDKL5 | c.1599C>G (p.Thr533=) c.1548C>G (p.Thr516=) c.1467C>G (p.Thr489=) n.1851C>G | |
X | g.18604523C>T | CA515627800 | CDKL5 | c.1599C>T (p.Thr533=) c.1548C>T (p.Thr516=) c.1467C>T (p.Thr489=) n.1851C>T | gnomAD v4 |
X | g.18604524A= | CA2417974439 | CDKL5 | c.1600A= (p.Arg534=) c.1549A= (p.Arg517=) c.1468A= (p.Arg490=) n.1852A= | |
X | g.18604524A>C | CA515627802 | CDKL5 | c.1600A>C (p.Arg534=) c.1549A>C (p.Arg517=) c.1468A>C (p.Arg490=) n.1852A>C | |
X | g.18604524A>G | CA10360397 | CDKL5 | c.1600A>G (p.Arg534Gly) c.1549A>G (p.Arg517Gly) c.1468A>G (p.Arg490Gly) n.1852A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604524A>T | CA412361891 | CDKL5 | c.1600A>T (p.Arg534Ter) c.1549A>T (p.Arg517Ter) c.1468A>T (p.Arg490Ter) n.1852A>T | |
X | g.18604524_18604525insAACACACCC | CA2819902208 | CDKL5 | c.1600_1601insAACACACCC (p.Thr533_Arg534insLysHisThr) c.1549_1550insAACACACCC (p.Thr516_Arg517insLysHisThr) c.1468_1469insAACACACCC (p.Thr489_Arg490insLysHisThr) n.1852_1853insAACACACCC | |
X | g.18604525del | CA2819902209 | CDKL5 | c.1601del (p.Arg534AsnfsTer?) c.1550del (p.Arg517AsnfsTer?) c.1469del (p.Arg490AsnfsTer?) n.1853del | |
X | g.18604525G>A | CA412361896 | CDKL5 | c.1601G>A (p.Arg534Lys) c.1550G>A (p.Arg517Lys) c.1469G>A (p.Arg490Lys) n.1853G>A | |
X | g.18604525G>C | CA412361902 | CDKL5 | c.1601G>C (p.Arg534Thr) c.1550G>C (p.Arg517Thr) c.1469G>C (p.Arg490Thr) n.1853G>C | |
X | g.18604525G>T | CA412361899 | CDKL5 | c.1601G>T (p.Arg534Ile) c.1550G>T (p.Arg517Ile) c.1469G>T (p.Arg490Ile) n.1853G>T | |
X | g.18604526A= | CA2417974440 | CDKL5 | c.1602A= (p.Arg534=) c.1551A= (p.Arg517=) c.1470A= (p.Arg490=) n.1854A= | |
X | g.18604526A>C | CA412361905 | CDKL5 | c.1602A>C (p.Arg534Ser) c.1551A>C (p.Arg517Ser) c.1470A>C (p.Arg490Ser) n.1854A>C | ClinVar dbSNP gnomAD v4 |
X | g.18604526A>G | CA515627807 | CDKL5 | c.1602A>G (p.Arg534=) c.1551A>G (p.Arg517=) c.1470A>G (p.Arg490=) n.1854A>G | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604526A>T | CA412361906 | CDKL5 | c.1602A>T (p.Arg534Ser) c.1551A>T (p.Arg517Ser) c.1470A>T (p.Arg490Ser) n.1854A>T | |
X | g.18604527C>A | CA412361909 | CDKL5 | c.1603C>A (p.His535Asn) c.1552C>A (p.His518Asn) c.1471C>A (p.His491Asn) n.1855C>A | |
X | g.18604527C>G | CA412361910 | CDKL5 | c.1603C>G (p.His535Asp) c.1552C>G (p.His518Asp) c.1471C>G (p.His491Asp) n.1855C>G | |
X | g.18604527C>T | CA412361912 | CDKL5 | c.1603C>T (p.His535Tyr) c.1552C>T (p.His518Tyr) c.1471C>T (p.His491Tyr) n.1855C>T | |
X | g.18604528A>C | CA412361914 | CDKL5 | c.1604A>C (p.His535Pro) c.1553A>C (p.His518Pro) c.1472A>C (p.His491Pro) n.1856A>C | |
X | g.18604528A>G | CA412361916 | CDKL5 | c.1604A>G (p.His535Arg) c.1553A>G (p.His518Arg) c.1472A>G (p.His491Arg) n.1856A>G | |
X | g.18604528A>T | CA412361918 | CDKL5 | c.1604A>T (p.His535Leu) c.1553A>T (p.His518Leu) c.1472A>T (p.His491Leu) n.1856A>T | |
X | g.18604529C>A | CA412361920 | CDKL5 | c.1605C>A (p.His535Gln) c.1554C>A (p.His518Gln) c.1473C>A (p.His491Gln) n.1857C>A | |
X | g.18604529C>G | CA412361922 | CDKL5 | c.1605C>G (p.His535Gln) c.1554C>G (p.His518Gln) c.1473C>G (p.His491Gln) n.1857C>G | |
X | g.18604529C>T | CA515627811 | CDKL5 | c.1605C>T (p.His535=) c.1554C>T (p.His518=) c.1473C>T (p.His491=) n.1857C>T | |
X | g.18604530A>C | CA412361924 | CDKL5 | c.1606A>C (p.Ser536Arg) c.1555A>C (p.Ser519Arg) c.1474A>C (p.Ser492Arg) n.1858A>C | |
X | g.18604530A>G | CA412361926 | CDKL5 | c.1606A>G (p.Ser536Gly) c.1555A>G (p.Ser519Gly) c.1474A>G (p.Ser492Gly) n.1858A>G | |
X | g.18604530A>T | CA412361928 | CDKL5 | c.1606A>T (p.Ser536Cys) c.1555A>T (p.Ser519Cys) c.1474A>T (p.Ser492Cys) n.1858A>T |