Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18604471_18604478delCA2695231329CDKL5c.1547_1554del (p.Tyr516PhefsTer2)
c.1496_1503del (p.Tyr499PhefsTer2)
c.1415_1422del (p.Tyr472PhefsTer2)
n.1799_1806del
Xg.18604474delCA199381CDKL5c.1550del (p.Phe517SerfsTer6)
c.1499del (p.Phe500SerfsTer6)
c.1418del (p.Phe473SerfsTer6)
n.1802del
 ClinVar dbSNP
Xg.18604474T>ACA412361548CDKL5c.1550T>A (p.Phe517Tyr)
c.1499T>A (p.Phe500Tyr)
c.1418T>A (p.Phe473Tyr)
n.1802T>A
Xg.18604474T>CCA412361546CDKL5c.1550T>C (p.Phe517Ser)
c.1499T>C (p.Phe500Ser)
c.1418T>C (p.Phe473Ser)
n.1802T>C
Xg.18604474T>GCA412361544CDKL5c.1550T>G (p.Phe517Cys)
c.1499T>G (p.Phe500Cys)
c.1418T>G (p.Phe473Cys)
n.1802T>G
Xg.18604474_18604475delinsTCCA2417974420CDKL5c.1550_1551delinsTC (p.Phe517=)
c.1499_1500delinsTC (p.Phe500=)
c.1418_1419delinsTC (p.Phe473=)
n.1802_1803delinsTC
Xg.18604475C>ACA412361551CDKL5c.1551C>A (p.Phe517Leu)
c.1500C>A (p.Phe500Leu)
c.1419C>A (p.Phe473Leu)
n.1803C>A
Xg.18604475C>GCA412361554CDKL5c.1551C>G (p.Phe517Leu)
c.1500C>G (p.Phe500Leu)
c.1419C>G (p.Phe473Leu)
n.1803C>G
Xg.18604475C>TCA515628286CDKL5c.1551C>T (p.Phe517=)
c.1500C>T (p.Phe500=)
c.1419C>T (p.Phe473=)
n.1803C>T
Xg.18604477delCA10604833CDKL5c.1553del (p.Pro518HisfsTer5)
c.1502del (p.Pro501HisfsTer5)
c.1421del (p.Pro474HisfsTer5)
n.1805del
 ClinVar dbSNP
Xg.18604476C>ACA412361558CDKL5c.1552C>A (p.Pro518Thr)
c.1501C>A (p.Pro501Thr)
c.1420C>A (p.Pro474Thr)
n.1804C>A
Xg.18604476C>GCA412361560CDKL5c.1552C>G (p.Pro518Ala)
c.1501C>G (p.Pro501Ala)
c.1420C>G (p.Pro474Ala)
n.1804C>G
Xg.18604476C>TCA412361565CDKL5c.1552C>T (p.Pro518Ser)
c.1501C>T (p.Pro501Ser)
c.1420C>T (p.Pro474Ser)
n.1804C>T
 ClinVar
Xg.18604477C>ACA412361569CDKL5c.1553C>A (p.Pro518Gln)
c.1502C>A (p.Pro501Gln)
c.1421C>A (p.Pro474Gln)
n.1805C>A
Xg.18604477C>GCA412361588CDKL5c.1553C>G (p.Pro518Arg)
c.1502C>G (p.Pro501Arg)
c.1421C>G (p.Pro474Arg)
n.1805C>G
Xg.18604477C>TCA412361585CDKL5c.1553C>T (p.Pro518Leu)
c.1502C>T (p.Pro501Leu)
c.1421C>T (p.Pro474Leu)
n.1805C>T
 COSMIC
Xg.18604478A=CA2417974421CDKL5c.1554A= (p.Pro518=)
c.1503A= (p.Pro501=)
c.1422A= (p.Pro474=)
n.1806A=
Xg.18604478A>CCA515628300CDKL5c.1554A>C (p.Pro518=)
c.1503A>C (p.Pro501=)
c.1422A>C (p.Pro474=)
n.1806A>C
Xg.18604478A>GCA10360393CDKL5c.1554A>G (p.Pro518=)
c.1503A>G (p.Pro501=)
c.1422A>G (p.Pro474=)
n.1806A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18604478A>TCA515628306CDKL5c.1554A>T (p.Pro518=)
c.1503A>T (p.Pro501=)
c.1422A>T (p.Pro474=)
n.1806A>T
Xg.18604479T>ACA412361591CDKL5c.1555T>A (p.Ser519Thr)
c.1504T>A (p.Ser502Thr)
c.1423T>A (p.Ser475Thr)
n.1807T>A
Xg.18604479T>CCA412361594CDKL5c.1555T>C (p.Ser519Pro)
c.1504T>C (p.Ser502Pro)
c.1423T>C (p.Ser475Pro)
n.1807T>C
 ClinVar
Xg.18604479T>GCA412361597CDKL5c.1555T>G (p.Ser519Ala)
c.1504T>G (p.Ser502Ala)
c.1423T>G (p.Ser475Ala)
n.1807T>G
Xg.18604480C>ACA412361599CDKL5c.1556C>A (p.Ser519Tyr)
c.1505C>A (p.Ser502Tyr)
c.1424C>A (p.Ser475Tyr)
n.1808C>A
Xg.18604480C>GCA412361602CDKL5c.1556C>G (p.Ser519Cys)
c.1505C>G (p.Ser502Cys)
c.1424C>G (p.Ser475Cys)
n.1808C>G
 gnomAD v4
Xg.18604480C>TCA412361605CDKL5c.1556C>T (p.Ser519Phe)
c.1505C>T (p.Ser502Phe)
c.1424C>T (p.Ser475Phe)
n.1808C>T
Xg.18604481T>ACA515628311CDKL5c.1557T>A (p.Ser519=)
c.1506T>A (p.Ser502=)
c.1425T>A (p.Ser475=)
n.1809T>A
Xg.18604481T>CCA515628319CDKL5c.1557T>C (p.Ser519=)
c.1506T>C (p.Ser502=)
c.1425T>C (p.Ser475=)
n.1809T>C
Xg.18604481T>GCA515628315CDKL5c.1557T>G (p.Ser519=)
c.1506T>G (p.Ser502=)
c.1425T>G (p.Ser475=)
n.1809T>G
Xg.18604482A>CCA412361610CDKL5c.1558A>C (p.Ser520Arg)
c.1507A>C (p.Ser503Arg)
c.1426A>C (p.Ser476Arg)
n.1810A>C
Xg.18604482A>GCA412361613CDKL5c.1558A>G (p.Ser520Gly)
c.1507A>G (p.Ser503Gly)
c.1426A>G (p.Ser476Gly)
n.1810A>G
Xg.18604482A>TCA412361616CDKL5c.1558A>T (p.Ser520Cys)
c.1507A>T (p.Ser503Cys)
c.1426A>T (p.Ser476Cys)
n.1810A>T
Xg.18604483G>ACA412361620CDKL5c.1559G>A (p.Ser520Asn)
c.1508G>A (p.Ser503Asn)
c.1427G>A (p.Ser476Asn)
n.1811G>A
 dbSNP
Xg.18604483G>CCA412361623CDKL5c.1559G>C (p.Ser520Thr)
c.1508G>C (p.Ser503Thr)
c.1427G>C (p.Ser476Thr)
n.1811G>C
Xg.18604483G=CA2417974422CDKL5c.1559G= (p.Ser520=)
c.1508G= (p.Ser503=)
c.1427G= (p.Ser476=)
n.1811G=
Xg.18604483G>TCA412361621CDKL5c.1559G>T (p.Ser520Ile)
c.1508G>T (p.Ser503Ile)
c.1427G>T (p.Ser476Ile)
n.1811G>T
Xg.18604484C>ACA412361625CDKL5c.1560C>A (p.Ser520Arg)
c.1509C>A (p.Ser503Arg)
c.1428C>A (p.Ser476Arg)
n.1812C>A
Xg.18604484C>GCA412361626CDKL5c.1560C>G (p.Ser520Arg)
c.1509C>G (p.Ser503Arg)
c.1428C>G (p.Ser476Arg)
n.1812C>G
Xg.18604484C>TCA515628334CDKL5c.1560C>T (p.Ser520=)
c.1509C>T (p.Ser503=)
c.1428C>T (p.Ser476=)
n.1812C>T
Xg.18604485T>ACA412361629CDKL5c.1561T>A (p.Cys521Ser)
c.1510T>A (p.Cys504Ser)
c.1429T>A (p.Cys477Ser)
n.1813T>A
Xg.18604485T>CCA412361631CDKL5c.1561T>C (p.Cys521Arg)
c.1510T>C (p.Cys504Arg)
c.1429T>C (p.Cys477Arg)
n.1813T>C
Xg.18604485T>GCA412361633CDKL5c.1561T>G (p.Cys521Gly)
c.1510T>G (p.Cys504Gly)
c.1429T>G (p.Cys477Gly)
n.1813T>G
Xg.18604486G>ACA326987829CDKL5c.1562G>A (p.Cys521Tyr)
c.1511G>A (p.Cys504Tyr)
c.1430G>A (p.Cys477Tyr)
n.1814G>A
 dbSNP
Xg.18604486G>CCA412361637CDKL5c.1562G>C (p.Cys521Ser)
c.1511G>C (p.Cys504Ser)
c.1430G>C (p.Cys477Ser)
n.1814G>C
Xg.18604486G=CA2417974423CDKL5c.1562G= (p.Cys521=)
c.1511G= (p.Cys504=)
c.1430G= (p.Cys477=)
n.1814G=
Xg.18604486G>TCA412361640CDKL5c.1562G>T (p.Cys521Phe)
c.1511G>T (p.Cys504Phe)
c.1430G>T (p.Cys477Phe)
n.1814G>T
Xg.18604487C>ACA412361642CDKL5c.1563C>A (p.Cys521Ter)
c.1512C>A (p.Cys504Ter)
c.1431C>A (p.Cys477Ter)
n.1815C>A
Xg.18604487C>GCA412361645CDKL5c.1563C>G (p.Cys521Trp)
c.1512C>G (p.Cys504Trp)
c.1431C>G (p.Cys477Trp)
n.1815C>G
Xg.18604487C>TCA515628344CDKL5c.1563C>T (p.Cys521=)
c.1512C>T (p.Cys504=)
c.1431C>T (p.Cys477=)
n.1815C>T
Xg.18604488T>ACA412361648CDKL5c.1564T>A (p.Leu522Ile)
c.1513T>A (p.Leu505Ile)
c.1432T>A (p.Leu478Ile)
n.1816T>A
Xg.18604488T>CCA515628350CDKL5c.1564T>C (p.Leu522=)
c.1513T>C (p.Leu505=)
c.1432T>C (p.Leu478=)
n.1816T>C
Xg.18604488T>GCA10360394CDKL5c.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
Xg.18604488T=CA2417974424CDKL5c.1564T= (p.Leu522=)
c.1513T= (p.Leu505=)
c.1432T= (p.Leu478=)
n.1816T=
Xg.18604489T>ACA412361658CDKL5c.1565T>A (p.Leu522Ter)
c.1514T>A (p.Leu505Ter)
c.1433T>A (p.Leu478Ter)
n.1817T>A
Xg.18604489T>CCA412361653CDKL5c.1565T>C (p.Leu522Ser)
c.1514T>C (p.Leu505Ser)
c.1433T>C (p.Leu478Ser)
n.1817T>C
Xg.18604489T>GCA412361655CDKL5c.1565T>G (p.Leu522Ter)
c.1514T>G (p.Leu505Ter)
c.1433T>G (p.Leu478Ter)
n.1817T>G
Xg.18604490A>CCA412361661CDKL5c.1566A>C (p.Leu522Phe)
c.1515A>C (p.Leu505Phe)
c.1434A>C (p.Leu478Phe)
n.1818A>C
Xg.18604490A>GCA515628358CDKL5c.1566A>G (p.Leu522=)
c.1515A>G (p.Leu505=)
c.1434A>G (p.Leu478=)
n.1818A>G
Xg.18604490A>TCA412361664CDKL5c.1566A>T (p.Leu522Phe)
c.1515A>T (p.Leu505Phe)
c.1434A>T (p.Leu478Phe)
n.1818A>T
Xg.18604491G>ACA412361667CDKL5c.1567G>A (p.Asp523Asn)
c.1516G>A (p.Asp506Asn)
c.1435G>A (p.Asp479Asn)
n.1819G>A
Xg.18604491G>CCA412361669CDKL5c.1567G>C (p.Asp523His)
c.1516G>C (p.Asp506His)
c.1435G>C (p.Asp479His)
n.1819G>C
Xg.18604491G>TCA412361672CDKL5c.1567G>T (p.Asp523Tyr)
c.1516G>T (p.Asp506Tyr)
c.1435G>T (p.Asp479Tyr)
n.1819G>T
Xg.18604492delCA2695231332CDKL5c.1568del (p.Asp523AlafsTer2)
c.1517del (p.Asp506AlafsTer2)
c.1436del (p.Asp479AlafsTer2)
n.1820del
Xg.18604492A>CCA412361675CDKL5c.1568A>C (p.Asp523Ala)
c.1517A>C (p.Asp506Ala)
c.1436A>C (p.Asp479Ala)
n.1820A>C
Xg.18604492A>GCA412361677CDKL5c.1568A>G (p.Asp523Gly)
c.1517A>G (p.Asp506Gly)
c.1436A>G (p.Asp479Gly)
n.1820A>G
Xg.18604492A>TCA412361680CDKL5c.1568A>T (p.Asp523Val)
c.1517A>T (p.Asp506Val)
c.1436A>T (p.Asp479Val)
n.1820A>T
Xg.18604493C>ACA412361683CDKL5c.1569C>A (p.Asp523Glu)
c.1518C>A (p.Asp506Glu)
c.1437C>A (p.Asp479Glu)
n.1821C>A
Xg.18604493C=CA2417974425CDKL5c.1569C= (p.Asp523=)
c.1518C= (p.Asp506=)
c.1437C= (p.Asp479=)
n.1821C=
Xg.18604493C>GCA412361686CDKL5c.1569C>G (p.Asp523Glu)
c.1518C>G (p.Asp506Glu)
c.1437C>G (p.Asp479Glu)
n.1821C>G
Xg.18604493C>TCA515628377CDKL5c.1569C>T (p.Asp523=)
c.1518C>T (p.Asp506=)
c.1437C>T (p.Asp479=)
n.1821C>T
 dbSNP
Xg.18604494T>ACA412361690CDKL5c.1570T>A (p.Leu524Met)
c.1519T>A (p.Leu507Met)
c.1438T>A (p.Leu480Met)
n.1822T>A
Xg.18604494T>CCA515628379CDKL5c.1570T>C (p.Leu524=)
c.1519T>C (p.Leu507=)
c.1438T>C (p.Leu480=)
n.1822T>C
Xg.18604494T>GCA412361692CDKL5c.1570T>G (p.Leu524Val)
c.1519T>G (p.Leu507Val)
c.1438T>G (p.Leu480Val)
n.1822T>G
Xg.18604495T>ACA412361696CDKL5c.1571T>A (p.Leu524Ter)
c.1520T>A (p.Leu507Ter)
c.1439T>A (p.Leu480Ter)
n.1823T>A
Xg.18604495T>CCA412361699CDKL5c.1571T>C (p.Leu524Ser)
c.1520T>C (p.Leu507Ser)
c.1439T>C (p.Leu480Ser)
n.1823T>C
Xg.18604495T>GCA412361695CDKL5c.1571T>G (p.Leu524Trp)
c.1520T>G (p.Leu507Trp)
c.1439T>G (p.Leu480Trp)
n.1823T>G
Xg.18604496G>ACA515627746CDKL5c.1572G>A (p.Leu524=)
c.1521G>A (p.Leu507=)
c.1440G>A (p.Leu480=)
n.1824G>A
 gnomAD v4 COSMIC
Xg.18604496G>CCA412361706CDKL5c.1572G>C (p.Leu524Phe)
c.1521G>C (p.Leu507Phe)
c.1440G>C (p.Leu480Phe)
n.1824G>C
Xg.18604496G>TCA412361703CDKL5c.1572G>T (p.Leu524Phe)
c.1521G>T (p.Leu507Phe)
c.1440G>T (p.Leu480Phe)
n.1824G>T
Xg.18604497A>CCA412361709CDKL5c.1573A>C (p.Asn525His)
c.1522A>C (p.Asn508His)
c.1441A>C (p.Asn481His)
n.1825A>C
Xg.18604497A>GCA412361712CDKL5c.1573A>G (p.Asn525Asp)
c.1522A>G (p.Asn508Asp)
c.1441A>G (p.Asn481Asp)
n.1825A>G
Xg.18604497A>TCA412361714CDKL5c.1573A>T (p.Asn525Tyr)
c.1522A>T (p.Asn508Tyr)
c.1441A>T (p.Asn481Tyr)
n.1825A>T
Xg.18604498A=CA2417974426CDKL5c.1574A= (p.Asn525=)
c.1523A= (p.Asn508=)
c.1442A= (p.Asn481=)
n.1826A=
Xg.18604498A>CCA412361717CDKL5c.1574A>C (p.Asn525Thr)
c.1523A>C (p.Asn508Thr)
c.1442A>C (p.Asn481Thr)
n.1826A>C
Xg.18604498A>GCA326987833CDKL5c.1574A>G (p.Asn525Ser)
c.1523A>G (p.Asn508Ser)
c.1442A>G (p.Asn481Ser)
n.1826A>G
 dbSNP
Xg.18604498A>TCA412361720CDKL5c.1574A>T (p.Asn525Ile)
c.1523A>T (p.Asn508Ile)
c.1442A>T (p.Asn481Ile)
n.1826A>T
Xg.18604499T>ACA412361726CDKL5c.1575T>A (p.Asn525Lys)
c.1524T>A (p.Asn508Lys)
c.1443T>A (p.Asn481Lys)
n.1827T>A
Xg.18604499T>CCA515627750CDKL5c.1575T>C (p.Asn525=)
c.1524T>C (p.Asn508=)
c.1443T>C (p.Asn481=)
n.1827T>C
Xg.18604499T>GCA412361723CDKL5c.1575T>G (p.Asn525Lys)
c.1524T>G (p.Asn508Lys)
c.1443T>G (p.Asn481Lys)
n.1827T>G
Xg.18604500T>ACA412361729CDKL5c.1576T>A (p.Ser526Thr)
c.1525T>A (p.Ser509Thr)
c.1444T>A (p.Ser482Thr)
n.1828T>A
Xg.18604500T>CCA412361732CDKL5c.1576T>C (p.Ser526Pro)
c.1525T>C (p.Ser509Pro)
c.1444T>C (p.Ser482Pro)
n.1828T>C
Xg.18604500T>GCA412361740CDKL5c.1576T>G (p.Ser526Ala)
c.1525T>G (p.Ser509Ala)
c.1444T>G (p.Ser482Ala)
n.1828T>G
 gnomAD v4
Xg.18604501C>ACA412361744CDKL5c.1577C>A (p.Ser526Tyr)
c.1526C>A (p.Ser509Tyr)
c.1445C>A (p.Ser482Tyr)
n.1829C>A
Xg.18604501C=CA2417974427CDKL5c.1577C= (p.Ser526=)
c.1526C= (p.Ser509=)
c.1445C= (p.Ser482=)
n.1829C=
Xg.18604501C>GCA412361746CDKL5c.1577C>G (p.Ser526Cys)
c.1526C>G (p.Ser509Cys)
c.1445C>G (p.Ser482Cys)
n.1829C>G
 gnomAD v4
Xg.18604501C>TCA412361749CDKL5c.1577C>T (p.Ser526Phe)
c.1526C>T (p.Ser509Phe)
c.1445C>T (p.Ser482Phe)
n.1829C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.18604502T>ACA515627757CDKL5c.1578T>A (p.Ser526=)
c.1527T>A (p.Ser509=)
c.1446T>A (p.Ser482=)
n.1830T>A
Xg.18604502T>CCA515627758CDKL5c.1578T>C (p.Ser526=)
c.1527T>C (p.Ser509=)
c.1446T>C (p.Ser482=)
n.1830T>C
 dbSNP gnomAD v4
Xg.18604502T>GCA515627759CDKL5c.1578T>G (p.Ser526=)
c.1527T>G (p.Ser509=)
c.1446T>G (p.Ser482=)
n.1830T>G
Xg.18604502T=CA2417974428CDKL5c.1578T= (p.Ser526=)
c.1527T= (p.Ser509=)
c.1446T= (p.Ser482=)
n.1830T=
Xg.18604503C>ACA412361752CDKL5c.1579C>A (p.Pro527Thr)
c.1528C>A (p.Pro510Thr)
c.1447C>A (p.Pro483Thr)
n.1831C>A
Xg.18604503C=CA2417974429CDKL5c.1579C= (p.Pro527=)
c.1528C= (p.Pro510=)
c.1447C= (p.Pro483=)
n.1831C=
Xg.18604503C>GCA412361759CDKL5c.1579C>G (p.Pro527Ala)
c.1528C>G (p.Pro510Ala)
c.1447C>G (p.Pro483Ala)
n.1831C>G
Xg.18604503C>TCA412361753CDKL5c.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
Xg.18604505delCA2695231302CDKL5c.1581del (p.Thr528ProfsTer?)
c.1530del (p.Thr511ProfsTer?)
c.1449del (p.Thr484ProfsTer?)
n.1833del
Xg.18604504C>ACA412361762CDKL5c.1580C>A (p.Pro527His)
c.1529C>A (p.Pro510His)
c.1448C>A (p.Pro483His)
n.1832C>A
Xg.18604504C=CA2417974430CDKL5c.1580C= (p.Pro527=)
c.1529C= (p.Pro510=)
c.1448C= (p.Pro483=)
n.1832C=
Xg.18604504C>GCA412361765CDKL5c.1580C>G (p.Pro527Arg)
c.1529C>G (p.Pro510Arg)
c.1448C>G (p.Pro483Arg)
n.1832C>G
Xg.18604504C>TCA10360395CDKL5c.1580C>T (p.Pro527Leu)
c.1529C>T (p.Pro510Leu)
c.1448C>T (p.Pro483Leu)
n.1832C>T
 ClinVar dbSNP ExAC
Xg.18604505C>ACA515627763CDKL5c.1581C>A (p.Pro527=)
c.1530C>A (p.Pro510=)
c.1449C>A (p.Pro483=)
n.1833C>A
Xg.18604505C>GCA515627764CDKL5c.1581C>G (p.Pro527=)
c.1530C>G (p.Pro510=)
c.1449C>G (p.Pro483=)
n.1833C>G
Xg.18604505C>TCA515627765CDKL5c.1581C>T (p.Pro527=)
c.1530C>T (p.Pro510=)
c.1449C>T (p.Pro483=)
n.1833C>T
Xg.18604506A>CCA412361770CDKL5c.1582A>C (p.Thr528Pro)
c.1531A>C (p.Thr511Pro)
c.1450A>C (p.Thr484Pro)
n.1834A>C
Xg.18604506A>GCA412361774CDKL5c.1582A>G (p.Thr528Ala)
c.1531A>G (p.Thr511Ala)
c.1450A>G (p.Thr484Ala)
n.1834A>G
 gnomAD v4
Xg.18604506A>TCA412361777CDKL5c.1582A>T (p.Thr528Ser)
c.1531A>T (p.Thr511Ser)
c.1450A>T (p.Thr484Ser)
n.1834A>T
Xg.18604507C>ACA412361780CDKL5c.1583C>A (p.Thr528Asn)
c.1532C>A (p.Thr511Asn)
c.1451C>A (p.Thr484Asn)
n.1835C>A
 gnomAD v4
Xg.18604507C>GCA412361783CDKL5c.1583C>G (p.Thr528Ser)
c.1532C>G (p.Thr511Ser)
c.1451C>G (p.Thr484Ser)
n.1835C>G
Xg.18604507C>TCA412361786CDKL5c.1583C>T (p.Thr528Ile)
c.1532C>T (p.Thr511Ile)
c.1451C>T (p.Thr484Ile)
n.1835C>T
 gnomAD v4
Xg.18604508dupCA2499226536CDKL5c.1584dup (p.Ser529GlnfsTer9)
c.1533dup (p.Ser512GlnfsTer9)
c.1452dup (p.Ser485GlnfsTer9)
n.1836dup
 ClinVar dbSNP
Xg.18604508C>ACA515627771CDKL5c.1584C>A (p.Thr528=)
c.1533C>A (p.Thr511=)
c.1452C>A (p.Thr484=)
n.1836C>A
Xg.18604508C>GCA515627773CDKL5c.1584C>G (p.Thr528=)
c.1533C>G (p.Thr511=)
c.1452C>G (p.Thr484=)
n.1836C>G
Xg.18604508C>TCA515627774CDKL5c.1584C>T (p.Thr528=)
c.1533C>T (p.Thr511=)
c.1452C>T (p.Thr484=)
n.1836C>T
Xg.18604509A=CA2417974431CDKL5c.1585A= (p.Ser529=)
c.1534A= (p.Ser512=)
c.1453A= (p.Ser485=)
n.1837A=
Xg.18604509A>CCA326987836CDKL5c.1585A>C (p.Ser529Arg)
c.1534A>C (p.Ser512Arg)
c.1453A>C (p.Ser485Arg)
n.1837A>C
 dbSNP
Xg.18604509A>GCA412361789CDKL5c.1585A>G (p.Ser529Gly)
c.1534A>G (p.Ser512Gly)
c.1453A>G (p.Ser485Gly)
n.1837A>G
Xg.18604509A>TCA412361793CDKL5c.1585A>T (p.Ser529Cys)
c.1534A>T (p.Ser512Cys)
c.1453A>T (p.Ser485Cys)
n.1837A>T
Xg.18604510G>ACA412361796CDKL5c.1586G>A (p.Ser529Asn)
c.1535G>A (p.Ser512Asn)
c.1454G>A (p.Ser485Asn)
n.1838G>A
Xg.18604510G>CCA10360396CDKL5c.1586G>C (p.Ser529Thr)
c.1535G>C (p.Ser512Thr)
c.1454G>C (p.Ser485Thr)
n.1838G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18604510G=CA2417974432CDKL5c.1586G= (p.Ser529=)
c.1535G= (p.Ser512=)
c.1454G= (p.Ser485=)
n.1838G=
Xg.18604510G>TCA412361803CDKL5c.1586G>T (p.Ser529Ile)
c.1535G>T (p.Ser512Ile)
c.1454G>T (p.Ser485Ile)
n.1838G>T
 dbSNP
Xg.18604511C>ACA412361809CDKL5c.1587C>A (p.Ser529Arg)
c.1536C>A (p.Ser512Arg)
c.1455C>A (p.Ser485Arg)
n.1839C>A
Xg.18604511C>GCA412361811CDKL5c.1587C>G (p.Ser529Arg)
c.1536C>G (p.Ser512Arg)
c.1455C>G (p.Ser485Arg)
n.1839C>G
Xg.18604511C>TCA515627781CDKL5c.1587C>T (p.Ser529=)
c.1536C>T (p.Ser512=)
c.1455C>T (p.Ser485=)
n.1839C>T
Xg.18604512C>ACA412361815CDKL5c.1588C>A (p.Pro530Thr)
c.1537C>A (p.Pro513Thr)
c.1456C>A (p.Pro486Thr)
n.1840C>A
Xg.18604512C>GCA412361818CDKL5c.1588C>G (p.Pro530Ala)
c.1537C>G (p.Pro513Ala)
c.1456C>G (p.Pro486Ala)
n.1840C>G
Xg.18604512C>TCA412361820CDKL5c.1588C>T (p.Pro530Ser)
c.1537C>T (p.Pro513Ser)
c.1456C>T (p.Pro486Ser)
n.1840C>T
Xg.18604513C>ACA412361825CDKL5c.1589C>A (p.Pro530Gln)
c.1538C>A (p.Pro513Gln)
c.1457C>A (p.Pro486Gln)
n.1841C>A
Xg.18604513C>GCA412361828CDKL5c.1589C>G (p.Pro530Arg)
c.1538C>G (p.Pro513Arg)
c.1457C>G (p.Pro486Arg)
n.1841C>G
Xg.18604513C>TCA412361831CDKL5c.1589C>T (p.Pro530Leu)
c.1538C>T (p.Pro513Leu)
c.1457C>T (p.Pro486Leu)
n.1841C>T
 COSMIC
Xg.18604515_18604528delCA2695231304CDKL5c.1591_1604del (p.Thr531GlnfsTer2)
c.1540_1553del (p.Thr514GlnfsTer2)
c.1459_1472del (p.Thr487GlnfsTer2)
n.1843_1856del
Xg.18604514A=CA2417974433CDKL5c.1590A= (p.Pro530=)
c.1539A= (p.Pro513=)
c.1458A= (p.Pro486=)
n.1842A=
Xg.18604514A>CCA326987840CDKL5c.1590A>C (p.Pro530=)
c.1539A>C (p.Pro513=)
c.1458A>C (p.Pro486=)
n.1842A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.18604514A>GCA515627784CDKL5c.1590A>G (p.Pro530=)
c.1539A>G (p.Pro513=)
c.1458A>G (p.Pro486=)
n.1842A>G
Xg.18604514A>TCA515627785CDKL5c.1590A>T (p.Pro530=)
c.1539A>T (p.Pro513=)
c.1458A>T (p.Pro486=)
n.1842A>T
Xg.18604515A=CA2417974434CDKL5c.1591A= (p.Thr531=)
c.1540A= (p.Thr514=)
c.1459A= (p.Thr487=)
n.1843A=
Xg.18604515A>CCA412361836CDKL5c.1591A>C (p.Thr531Pro)
c.1540A>C (p.Thr514Pro)
c.1459A>C (p.Thr487Pro)
n.1843A>C
Xg.18604515A>GCA213381CDKL5c.1591A>G (p.Thr531Ala)
c.1540A>G (p.Thr514Ala)
c.1459A>G (p.Thr487Ala)
n.1843A>G
 ClinVar dbSNP ExAC gnomAD v2
Xg.18604515A>TCA412361844CDKL5c.1591A>T (p.Thr531Ser)
c.1540A>T (p.Thr514Ser)
c.1459A>T (p.Thr487Ser)
n.1843A>T
Xg.18604515_18604516insACACA2819902189CDKL5c.1591_1592insACA (p.Pro530_Thr531insAsn)
c.1540_1541insACA (p.Pro513_Thr514insAsn)
c.1459_1460insACA (p.Pro486_Thr487insAsn)
n.1843_1844insACA
Xg.18604515_18604516delinsACCA2417974435CDKL5c.1591_1592delinsAC (p.Thr531=)
c.1540_1541delinsAC (p.Thr514=)
c.1459_1460delinsAC (p.Thr487=)
n.1843_1844delinsAC
Xg.18604516C>ACA412361853CDKL5c.1592C>A (p.Thr531Asn)
c.1541C>A (p.Thr514Asn)
c.1460C>A (p.Thr487Asn)
n.1844C>A
Xg.18604516C=CA2417974436CDKL5c.1592C= (p.Thr531=)
c.1541C= (p.Thr514=)
c.1460C= (p.Thr487=)
n.1844C=
Xg.18604516C>GCA412361850CDKL5c.1592C>G (p.Thr531Ser)
c.1541C>G (p.Thr514Ser)
c.1460C>G (p.Thr487Ser)
n.1844C>G
Xg.18604516C>TCA412361848CDKL5c.1592C>T (p.Thr531Ile)
c.1541C>T (p.Thr514Ile)
c.1460C>T (p.Thr487Ile)
n.1844C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.18604518_18604519insACCCCCA2819902193CDKL5c.1594_1595insACCCC (p.Pro532HisfsTer?)
c.1543_1544insACCCC (p.Pro515HisfsTer?)
c.1462_1463insACCCC (p.Pro488HisfsTer?)
n.1846_1847insACCCC
Xg.18604520delCA658825120CDKL5c.1596del (p.Thr533ProfsTer?)
c.1545del (p.Thr516ProfsTer?)
c.1464del (p.Thr489ProfsTer?)
n.1848del
 ClinVar dbSNP
Xg.18604517C>ACA515627791CDKL5c.1593C>A (p.Thr531=)
c.1542C>A (p.Thr514=)
c.1461C>A (p.Thr487=)
n.1845C>A
Xg.18604517C>GCA515627790CDKL5c.1593C>G (p.Thr531=)
c.1542C>G (p.Thr514=)
c.1461C>G (p.Thr487=)
n.1845C>G
Xg.18604517C>TCA515627789CDKL5c.1593C>T (p.Thr531=)
c.1542C>T (p.Thr514=)
c.1461C>T (p.Thr487=)
n.1845C>T
Xg.18604518C>ACA412361857CDKL5c.1594C>A (p.Pro532Thr)
c.1543C>A (p.Pro515Thr)
c.1462C>A (p.Pro488Thr)
n.1846C>A
Xg.18604518C>GCA412361859CDKL5c.1594C>G (p.Pro532Ala)
c.1543C>G (p.Pro515Ala)
c.1462C>G (p.Pro488Ala)
n.1846C>G
 gnomAD v4
Xg.18604518C>TCA412361860CDKL5c.1594C>T (p.Pro532Ser)
c.1543C>T (p.Pro515Ser)
c.1462C>T (p.Pro488Ser)
n.1846C>T
 gnomAD v4
Xg.18604519C>ACA412361863CDKL5c.1595C>A (p.Pro532His)
c.1544C>A (p.Pro515His)
c.1463C>A (p.Pro488His)
n.1847C>A
Xg.18604519C>GCA412361866CDKL5c.1595C>G (p.Pro532Arg)
c.1544C>G (p.Pro515Arg)
c.1463C>G (p.Pro488Arg)
n.1847C>G
Xg.18604519C>TCA412361869CDKL5c.1595C>T (p.Pro532Leu)
c.1544C>T (p.Pro515Leu)
c.1463C>T (p.Pro488Leu)
n.1847C>T
 COSMIC
Xg.18604520C>ACA326987843CDKL5c.1596C>A (p.Pro532=)
c.1545C>A (p.Pro515=)
c.1464C>A (p.Pro488=)
n.1848C>A
 dbSNP gnomAD v4
Xg.18604520C=CA2417974437CDKL5c.1596C= (p.Pro532=)
c.1545C= (p.Pro515=)
c.1464C= (p.Pro488=)
n.1848C=
Xg.18604520C>GCA515627794CDKL5c.1596C>G (p.Pro532=)
c.1545C>G (p.Pro515=)
c.1464C>G (p.Pro488=)
n.1848C>G
Xg.18604520C>TCA515627795CDKL5c.1596C>T (p.Pro532=)
c.1545C>T (p.Pro515=)
c.1464C>T (p.Pro488=)
n.1848C>T
 ClinVar
Xg.18604521A>CCA412361873CDKL5c.1597A>C (p.Thr533Pro)
c.1546A>C (p.Thr516Pro)
c.1465A>C (p.Thr489Pro)
n.1849A>C
Xg.18604521A>GCA412361874CDKL5c.1597A>G (p.Thr533Ala)
c.1546A>G (p.Thr516Ala)
c.1465A>G (p.Thr489Ala)
n.1849A>G
Xg.18604521A>TCA412361883CDKL5c.1597A>T (p.Thr533Ser)
c.1546A>T (p.Thr516Ser)
c.1465A>T (p.Thr489Ser)
n.1849A>T
Xg.18604521_18604522insAACACACCA2819902202CDKL5c.1597_1598insAACACAC (p.Thr533LysfsTer7)
c.1546_1547insAACACAC (p.Thr516LysfsTer7)
c.1465_1466insAACACAC (p.Thr489LysfsTer7)
n.1849_1850insAACACAC
Xg.18604522C>ACA412361886CDKL5c.1598C>A (p.Thr533Asn)
c.1547C>A (p.Thr516Asn)
c.1466C>A (p.Thr489Asn)
n.1850C>A
Xg.18604522C=CA2417974438CDKL5c.1598C= (p.Thr533=)
c.1547C= (p.Thr516=)
c.1466C= (p.Thr489=)
n.1850C=
Xg.18604522C>GCA412361887CDKL5c.1598C>G (p.Thr533Ser)
c.1547C>G (p.Thr516Ser)
c.1466C>G (p.Thr489Ser)
n.1850C>G
 dbSNP gnomAD v3 gnomAD v4
Xg.18604522C>TCA412361889CDKL5c.1598C>T (p.Thr533Ile)
c.1547C>T (p.Thr516Ile)
c.1466C>T (p.Thr489Ile)
n.1850C>T
Xg.18604522_18604525delCA2819902203CDKL5c.1598_1601del (p.Thr533AsnfsTer?)
c.1547_1550del (p.Thr516AsnfsTer?)
c.1466_1469del (p.Thr489AsnfsTer?)
n.1850_1853del
Xg.18604523C>ACA515627799CDKL5c.1599C>A (p.Thr533=)
c.1548C>A (p.Thr516=)
c.1467C>A (p.Thr489=)
n.1851C>A
Xg.18604523C>GCA515627801CDKL5c.1599C>G (p.Thr533=)
c.1548C>G (p.Thr516=)
c.1467C>G (p.Thr489=)
n.1851C>G
Xg.18604523C>TCA515627800CDKL5c.1599C>T (p.Thr533=)
c.1548C>T (p.Thr516=)
c.1467C>T (p.Thr489=)
n.1851C>T
 gnomAD v4
Xg.18604524A=CA2417974439CDKL5c.1600A= (p.Arg534=)
c.1549A= (p.Arg517=)
c.1468A= (p.Arg490=)
n.1852A=
Xg.18604524A>CCA515627802CDKL5c.1600A>C (p.Arg534=)
c.1549A>C (p.Arg517=)
c.1468A>C (p.Arg490=)
n.1852A>C
Xg.18604524A>GCA10360397CDKL5c.1600A>G (p.Arg534Gly)
c.1549A>G (p.Arg517Gly)
c.1468A>G (p.Arg490Gly)
n.1852A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18604524A>TCA412361891CDKL5c.1600A>T (p.Arg534Ter)
c.1549A>T (p.Arg517Ter)
c.1468A>T (p.Arg490Ter)
n.1852A>T
Xg.18604524_18604525insAACACACCCCA2819902208CDKL5c.1600_1601insAACACACCC (p.Thr533_Arg534insLysHisThr)
c.1549_1550insAACACACCC (p.Thr516_Arg517insLysHisThr)
c.1468_1469insAACACACCC (p.Thr489_Arg490insLysHisThr)
n.1852_1853insAACACACCC
Xg.18604525delCA2819902209CDKL5c.1601del (p.Arg534AsnfsTer?)
c.1550del (p.Arg517AsnfsTer?)
c.1469del (p.Arg490AsnfsTer?)
n.1853del
Xg.18604525G>ACA412361896CDKL5c.1601G>A (p.Arg534Lys)
c.1550G>A (p.Arg517Lys)
c.1469G>A (p.Arg490Lys)
n.1853G>A
Xg.18604525G>CCA412361902CDKL5c.1601G>C (p.Arg534Thr)
c.1550G>C (p.Arg517Thr)
c.1469G>C (p.Arg490Thr)
n.1853G>C
Xg.18604525G>TCA412361899CDKL5c.1601G>T (p.Arg534Ile)
c.1550G>T (p.Arg517Ile)
c.1469G>T (p.Arg490Ile)
n.1853G>T
Xg.18604526A=CA2417974440CDKL5c.1602A= (p.Arg534=)
c.1551A= (p.Arg517=)
c.1470A= (p.Arg490=)
n.1854A=
Xg.18604526A>CCA412361905CDKL5c.1602A>C (p.Arg534Ser)
c.1551A>C (p.Arg517Ser)
c.1470A>C (p.Arg490Ser)
n.1854A>C
 ClinVar dbSNP gnomAD v4
Xg.18604526A>GCA515627807CDKL5c.1602A>G (p.Arg534=)
c.1551A>G (p.Arg517=)
c.1470A>G (p.Arg490=)
n.1854A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.18604526A>TCA412361906CDKL5c.1602A>T (p.Arg534Ser)
c.1551A>T (p.Arg517Ser)
c.1470A>T (p.Arg490Ser)
n.1854A>T
Xg.18604527C>ACA412361909CDKL5c.1603C>A (p.His535Asn)
c.1552C>A (p.His518Asn)
c.1471C>A (p.His491Asn)
n.1855C>A
Xg.18604527C>GCA412361910CDKL5c.1603C>G (p.His535Asp)
c.1552C>G (p.His518Asp)
c.1471C>G (p.His491Asp)
n.1855C>G
Xg.18604527C>TCA412361912CDKL5c.1603C>T (p.His535Tyr)
c.1552C>T (p.His518Tyr)
c.1471C>T (p.His491Tyr)
n.1855C>T
Xg.18604528A>CCA412361914CDKL5c.1604A>C (p.His535Pro)
c.1553A>C (p.His518Pro)
c.1472A>C (p.His491Pro)
n.1856A>C
Xg.18604528A>GCA412361916CDKL5c.1604A>G (p.His535Arg)
c.1553A>G (p.His518Arg)
c.1472A>G (p.His491Arg)
n.1856A>G
Xg.18604528A>TCA412361918CDKL5c.1604A>T (p.His535Leu)
c.1553A>T (p.His518Leu)
c.1472A>T (p.His491Leu)
n.1856A>T
Xg.18604529C>ACA412361920CDKL5c.1605C>A (p.His535Gln)
c.1554C>A (p.His518Gln)
c.1473C>A (p.His491Gln)
n.1857C>A
Xg.18604529C>GCA412361922CDKL5c.1605C>G (p.His535Gln)
c.1554C>G (p.His518Gln)
c.1473C>G (p.His491Gln)
n.1857C>G
Xg.18604529C>TCA515627811CDKL5c.1605C>T (p.His535=)
c.1554C>T (p.His518=)
c.1473C>T (p.His491=)
n.1857C>T
Xg.18604530A>CCA412361924CDKL5c.1606A>C (p.Ser536Arg)
c.1555A>C (p.Ser519Arg)
c.1474A>C (p.Ser492Arg)
n.1858A>C
Xg.18604530A>GCA412361926CDKL5c.1606A>G (p.Ser536Gly)
c.1555A>G (p.Ser519Gly)
c.1474A>G (p.Ser492Gly)
n.1858A>G
Xg.18604530A>TCA412361928CDKL5c.1606A>T (p.Ser536Cys)
c.1555A>T (p.Ser519Cys)
c.1474A>T (p.Ser492Cys)
n.1858A>T
Xg.18604531G>ACA412361931CDKL5c.1607G>A (p.Ser536Asn)
c.1556G>A (p.Ser519Asn)
c.1475G>A (p.Ser492Asn)
n.1859G>A
Xg.18604531G>CCA412361933CDKL5c.1607G>C (p.Ser536Thr)
c.1556G>C (p.Ser519Thr)
c.1475G>C (p.Ser492Thr)
n.1859G>C
Xg.18604531G>TCA412361932CDKL5c.1607G>T (p.Ser536Ile)
c.1556G>T (p.Ser519Ile)
c.1475G>T (p.Ser492Ile)
n.1859G>T
Xg.18604532T>ACA412361935CDKL5c.1608T>A (p.Ser536Arg)
c.1557T>A (p.Ser519Arg)
c.1476T>A (p.Ser492Arg)
n.1860T>A
Xg.18604532T>CCA515627814CDKL5c.1608T>C (p.Ser536=)
c.1557T>C (p.Ser519=)
c.1476T>C (p.Ser492=)
n.1860T>C
Xg.18604532T>GCA412361938CDKL5c.1608T>G (p.Ser536Arg)
c.1557T>G (p.Ser519Arg)
c.1476T>G (p.Ser492Arg)
n.1860T>G
Xg.18604533G>ACA412361940CDKL5c.1609G>A (p.Asp537Asn)
c.1558G>A (p.Asp520Asn)
c.1477G>A (p.Asp493Asn)
n.1861G>A
Xg.18604533G>CCA412361942CDKL5c.1609G>C (p.Asp537His)
c.1558G>C (p.Asp520His)
c.1477G>C (p.Asp493His)
n.1861G>C
Xg.18604533G>TCA412361944CDKL5c.1609G>T (p.Asp537Tyr)
c.1558G>T (p.Asp520Tyr)
c.1477G>T (p.Asp493Tyr)
n.1861G>T
Xg.18604534A>CCA412361945CDKL5c.1610A>C (p.Asp537Ala)
c.1559A>C (p.Asp520Ala)
c.1478A>C (p.Asp493Ala)
n.1862A>C
Xg.18604534A>GCA412361946CDKL5c.1610A>G (p.Asp537Gly)
c.1559A>G (p.Asp520Gly)
c.1478A>G (p.Asp493Gly)
n.1862A>G
Xg.18604534A>TCA412361948CDKL5c.1610A>T (p.Asp537Val)
c.1559A>T (p.Asp520Val)
c.1478A>T (p.Asp493Val)
n.1862A>T
Xg.18604536_18604537delCA2580615397CDKL5c.1612_1613del (p.Thr538GlufsTer11)
c.1561_1562del (p.Thr521GlufsTer11)
c.1480_1481del (p.Thr494GlufsTer11)
n.1864_1865del
 ClinVar dbSNP
Xg.18604535C>ACA412361950CDKL5c.1611C>A (p.Asp537Glu)
c.1560C>A (p.Asp520Glu)
c.1479C>A (p.Asp493Glu)
n.1863C>A
Xg.18604535C>GCA412361952CDKL5c.1611C>G (p.Asp537Glu)
c.1560C>G (p.Asp520Glu)
c.1479C>G (p.Asp493Glu)
n.1863C>G
Xg.18604535C>TCA515627817CDKL5c.1611C>T (p.Asp537=)
c.1560C>T (p.Asp520=)
c.1479C>T (p.Asp493=)
n.1863C>T
Xg.18604536A=CA2417974441CDKL5c.1612A= (p.Thr538=)
c.1561A= (p.Thr521=)
c.1480A= (p.Thr494=)
n.1864A=
Xg.18604536A>CCA412361957CDKL5c.1612A>C (p.Thr538Pro)
c.1561A>C (p.Thr521Pro)
c.1480A>C (p.Thr494Pro)
n.1864A>C
Xg.18604536A>GCA412361958CDKL5c.1612A>G (p.Thr538Ala)
c.1561A>G (p.Thr521Ala)
c.1480A>G (p.Thr494Ala)
n.1864A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.18604536A>TCA412361955CDKL5c.1612A>T (p.Thr538Ser)
c.1561A>T (p.Thr521Ser)
c.1480A>T (p.Thr494Ser)
n.1864A>T
Xg.18604537C>ACA412361960CDKL5c.1613C>A (p.Thr538Lys)
c.1562C>A (p.Thr521Lys)
c.1481C>A (p.Thr494Lys)
n.1865C>A
 ClinVar
Xg.18604537C=CA2417974442CDKL5c.1613C= (p.Thr538=)
c.1562C= (p.Thr521=)
c.1481C= (p.Thr494=)
n.1865C=
Xg.18604537C>GCA412361962CDKL5c.1613C>G (p.Thr538Arg)
c.1562C>G (p.Thr521Arg)
c.1481C>G (p.Thr494Arg)
n.1865C>G
Xg.18604537C>TCA412361964CDKL5c.1613C>T (p.Thr538Met)
c.1562C>T (p.Thr521Met)
c.1481C>T (p.Thr494Met)
n.1865C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.18604538G>ACA10360398CDKL5c.1614G>A (p.Thr538=)
c.1563G>A (p.Thr521=)
c.1482G>A (p.Thr494=)
n.1866G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.18604538G>CCA515627818CDKL5c.1614G>C (p.Thr538=)
c.1563G>C (p.Thr521=)
c.1482G>C (p.Thr494=)
n.1866G>C
Xg.18604538G=CA2417974443CDKL5c.1614G= (p.Thr538=)
c.1563G= (p.Thr521=)
c.1482G= (p.Thr494=)
n.1866G=
Xg.18604538G>TCA515627819CDKL5c.1614G>T (p.Thr538=)
c.1563G>T (p.Thr521=)
c.1482G>T (p.Thr494=)
n.1866G>T
Xg.18604539A>CCA515627820CDKL5c.1615A>C (p.Arg539=)
c.1564A>C (p.Arg522=)
c.1483A>C (p.Arg495=)
n.1867A>C
Xg.18604539A>GCA412361967CDKL5c.1615A>G (p.Arg539Gly)
c.1564A>G (p.Arg522Gly)
c.1483A>G (p.Arg495Gly)
n.1867A>G
Xg.18604539A>TCA412361968CDKL5c.1615A>T (p.Arg539Ter)
c.1564A>T (p.Arg522Ter)
c.1483A>T (p.Arg495Ter)
n.1867A>T
Xg.18604540G>ACA412361974CDKL5c.1616G>A (p.Arg539Lys)
c.1565G>A (p.Arg522Lys)
c.1484G>A (p.Arg495Lys)
n.1868G>A
 gnomAD v4
Xg.18604540G>CCA412361970CDKL5c.1616G>C (p.Arg539Thr)
c.1565G>C (p.Arg522Thr)
c.1484G>C (p.Arg495Thr)
n.1868G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.18604540G=CA2417974444CDKL5c.1616G= (p.Arg539=)
c.1565G= (p.Arg522=)
c.1484G= (p.Arg495=)
n.1868G=
Xg.18604540G>TCA412361972CDKL5c.1616G>T (p.Arg539Ile)
c.1565G>T (p.Arg522Ile)
c.1484G>T (p.Arg495Ile)
n.1868G>T
Xg.18604541A>CCA412361976CDKL5c.1617A>C (p.Arg539Ser)
c.1566A>C (p.Arg522Ser)
c.1485A>C (p.Arg495Ser)
n.1869A>C
Xg.18604541A>GCA515627822CDKL5c.1617A>G (p.Arg539=)
c.1566A>G (p.Arg522=)
c.1485A>G (p.Arg495=)
n.1869A>G
Xg.18604541A>TCA412361978CDKL5c.1617A>T (p.Arg539Ser)
c.1566A>T (p.Arg522Ser)
c.1485A>T (p.Arg495Ser)
n.1869A>T
Xg.18604542A>CCA412361980CDKL5c.1618A>C (p.Thr540Pro)
c.1567A>C (p.Thr523Pro)
c.1486A>C (p.Thr496Pro)
n.1870A>C
Xg.18604542A>GCA412361982CDKL5c.1618A>G (p.Thr540Ala)
c.1567A>G (p.Thr523Ala)
c.1486A>G (p.Thr496Ala)
n.1870A>G
Xg.18604542A>TCA412361983CDKL5c.1618A>T (p.Thr540Ser)
c.1567A>T (p.Thr523Ser)
c.1486A>T (p.Thr496Ser)
n.1870A>T
Xg.18604543C>ACA412361986CDKL5c.1619C>A (p.Thr540Asn)
c.1568C>A (p.Thr523Asn)
c.1487C>A (p.Thr496Asn)
n.1871C>A
Xg.18604543C>GCA412361989CDKL5c.1619C>G (p.Thr540Ser)
c.1568C>G (p.Thr523Ser)
c.1487C>G (p.Thr496Ser)
n.1871C>G
Xg.18604543C>TCA412361988CDKL5c.1619C>T (p.Thr540Ile)
c.1568C>T (p.Thr523Ile)
c.1487C>T (p.Thr496Ile)
n.1871C>T
 COSMIC
Xg.18604544T>ACA515627824CDKL5c.1620T>A (p.Thr540=)
c.1569T>A (p.Thr523=)
c.1488T>A (p.Thr496=)
n.1872T>A
Xg.18604544T>CCA515627826CDKL5c.1620T>C (p.Thr540=)
c.1569T>C (p.Thr523=)
c.1488T>C (p.Thr496=)
n.1872T>C
Xg.18604544T>GCA515627827CDKL5c.1620T>G (p.Thr540=)
c.1569T>G (p.Thr523=)
c.1488T>G (p.Thr496=)
n.1872T>G
Xg.18604545T>ACA412361991CDKL5c.1621T>A (p.Leu541Met)
c.1570T>A (p.Leu524Met)
c.1489T>A (p.Leu497Met)
n.1873T>A
Xg.18604545T>CCA515627828CDKL5c.1621T>C (p.Leu541=)
c.1570T>C (p.Leu524=)
c.1489T>C (p.Leu497=)
n.1873T>C
Xg.18604545T>GCA412361993CDKL5c.1621T>G (p.Leu541Val)
c.1570T>G (p.Leu524Val)
c.1489T>G (p.Leu497Val)
n.1873T>G
 dbSNP
Xg.18604545T=CA2417974445CDKL5c.1621T= (p.Leu541=)
c.1570T= (p.Leu524=)
c.1489T= (p.Leu497=)
n.1873T=
Xg.18604546T>ACA412361995CDKL5c.1622T>A (p.Leu541Ter)
c.1571T>A (p.Leu524Ter)
c.1490T>A (p.Leu497Ter)
n.1874T>A
Xg.18604546T>CCA412361997CDKL5c.1622T>C (p.Leu541Ser)
c.1571T>C (p.Leu524Ser)
c.1490T>C (p.Leu497Ser)
n.1874T>C
Xg.18604546T>GCA412361999CDKL5c.1622T>G (p.Leu541Trp)
c.1571T>G (p.Leu524Trp)
c.1490T>G (p.Leu497Trp)
n.1874T>G
Xg.18604547G>ACA515627832CDKL5c.1623G>A (p.Leu541=)
c.1572G>A (p.Leu524=)
c.1491G>A (p.Leu497=)
n.1875G>A
Xg.18604547G>CCA412362001CDKL5c.1623G>C (p.Leu541Phe)
c.1572G>C (p.Leu524Phe)
c.1491G>C (p.Leu497Phe)
n.1875G>C
 COSMIC
Xg.18604547G>TCA412362002CDKL5c.1623G>T (p.Leu541Phe)
c.1572G>T (p.Leu524Phe)
c.1491G>T (p.Leu497Phe)
n.1875G>T
Xg.18604548C>ACA412362003CDKL5c.1624C>A (p.Leu542Ile)
c.1573C>A (p.Leu525Ile)
c.1492C>A (p.Leu498Ile)
n.1876C>A
Xg.18604548C>GCA412362004CDKL5c.1624C>G (p.Leu542Val)
c.1573C>G (p.Leu525Val)
c.1492C>G (p.Leu498Val)
n.1876C>G
Xg.18604548C>TCA412362006CDKL5c.1624C>T (p.Leu542Phe)
c.1573C>T (p.Leu525Phe)
c.1492C>T (p.Leu498Phe)
n.1876C>T
Xg.18604549T>ACA412362009CDKL5c.1625T>A (p.Leu542His)
c.1574T>A (p.Leu525His)
c.1493T>A (p.Leu498His)
n.1877T>A
Xg.18604549T>CCA412362010CDKL5c.1625T>C (p.Leu542Pro)
c.1574T>C (p.Leu525Pro)
c.1493T>C (p.Leu498Pro)
n.1877T>C
 gnomAD v4
Xg.18604549T>GCA412362012CDKL5c.1625T>G (p.Leu542Arg)
c.1574T>G (p.Leu525Arg)
c.1493T>G (p.Leu498Arg)
n.1877T>G
Xg.18604550C>ACA515627834CDKL5c.1626C>A (p.Leu542=)
c.1575C>A (p.Leu525=)
c.1494C>A (p.Leu498=)
n.1878C>A
 gnomAD v4
Xg.18604550C>GCA515627836CDKL5c.1626C>G (p.Leu542=)
c.1575C>G (p.Leu525=)
c.1494C>G (p.Leu498=)
n.1878C>G
Xg.18604550C>TCA515627837CDKL5c.1626C>T (p.Leu542=)
c.1575C>T (p.Leu525=)
c.1494C>T (p.Leu498=)
n.1878C>T
Xg.18604551A>CCA412362016CDKL5c.1627A>C (p.Ser543Arg)
c.1576A>C (p.Ser526Arg)
c.1495A>C (p.Ser499Arg)
n.1879A>C
Xg.18604551A>GCA412362019CDKL5c.1627A>G (p.Ser543Gly)
c.1576A>G (p.Ser526Gly)
c.1495A>G (p.Ser499Gly)
n.1879A>G
Xg.18604551A>TCA412362015CDKL5c.1627A>T (p.Ser543Cys)
c.1576A>T (p.Ser526Cys)
c.1495A>T (p.Ser499Cys)
n.1879A>T
Xg.18604552G>ACA412362020CDKL5c.1628G>A (p.Ser543Asn)
c.1577G>A (p.Ser526Asn)
c.1496G>A (p.Ser499Asn)
n.1880G>A
Xg.18604552G>CCA412362022CDKL5c.1628G>C (p.Ser543Thr)
c.1577G>C (p.Ser526Thr)
c.1496G>C (p.Ser499Thr)
n.1880G>C
Xg.18604552G>TCA412362024CDKL5c.1628G>T (p.Ser543Ile)
c.1577G>T (p.Ser526Ile)
c.1496G>T (p.Ser499Ile)
n.1880G>T
Xg.18604552dupCA2499226537CDKL5c.1628dup (p.Ser543ArgfsTer7)
c.1577dup (p.Ser526ArgfsTer7)
c.1496dup (p.Ser499ArgfsTer7)
n.1880dup
 ClinVar dbSNP
Xg.18604553C>ACA412362025CDKL5c.1629C>A (p.Ser543Arg)
c.1578C>A (p.Ser526Arg)
c.1497C>A (p.Ser499Arg)
n.1881C>A
Xg.18604553C>GCA412362027CDKL5c.1629C>G (p.Ser543Arg)
c.1578C>G (p.Ser526Arg)
c.1497C>G (p.Ser499Arg)
n.1881C>G
Xg.18604553C>TCA515627839CDKL5c.1629C>T (p.Ser543=)
c.1578C>T (p.Ser526=)
c.1497C>T (p.Ser499=)
n.1881C>T
Xg.18604554C>ACA412362032CDKL5c.1630C>A (p.Pro544Thr)
c.1579C>A (p.Pro527Thr)
c.1498C>A (p.Pro500Thr)
n.1882C>A
Xg.18604554C>GCA412362030CDKL5c.1630C>G (p.Pro544Ala)
c.1579C>G (p.Pro527Ala)
c.1498C>G (p.Pro500Ala)
n.1882C>G
Xg.18604554C>TCA412362029CDKL5c.1630C>T (p.Pro544Ser)
c.1579C>T (p.Pro527Ser)
c.1498C>T (p.Pro500Ser)
n.1882C>T
Xg.18604555C>ACA412362034CDKL5c.1631C>A (p.Pro544His)
c.1580C>A (p.Pro527His)
c.1499C>A (p.Pro500His)
n.1883C>A
Xg.18604555C=CA2417974446CDKL5c.1631C= (p.Pro544=)
c.1580C= (p.Pro527=)
c.1499C= (p.Pro500=)
n.1883C=
Xg.18604555C>GCA412362036CDKL5c.1631C>G (p.Pro544Arg)
c.1580C>G (p.Pro527Arg)
c.1499C>G (p.Pro500Arg)
n.1883C>G
Xg.18604555C>TCA412362038CDKL5c.1631C>T (p.Pro544Leu)
c.1580C>T (p.Pro527Leu)
c.1499C>T (p.Pro500Leu)
n.1883C>T
 dbSNP
Xg.18604556T>ACA10360399CDKL5c.1632T>A (p.Pro544=)
c.1581T>A (p.Pro527=)
c.1500T>A (p.Pro500=)
n.1884T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.18604556T>CCA515627842CDKL5c.1632T>C (p.Pro544=)
c.1581T>C (p.Pro527=)
c.1500T>C (p.Pro500=)
n.1884T>C
Xg.18604556T>GCA515627843CDKL5c.1632T>G (p.Pro544=)
c.1581T>G (p.Pro527=)
c.1500T>G (p.Pro500=)
n.1884T>G
Xg.18604556T=CA2417974447CDKL5c.1632T= (p.Pro544=)
c.1581T= (p.Pro527=)
c.1500T= (p.Pro500=)
n.1884T=
Xg.18604557delCA2579562929CDKL5c.1633del (p.Ser545LeufsTer27)
c.1582del (p.Ser528LeufsTer27)
c.1501del (p.Ser501LeufsTer27)
n.1885del
Xg.18604557T>ACA412362041CDKL5c.1633T>A (p.Ser545Thr)
c.1582T>A (p.Ser528Thr)
c.1501T>A (p.Ser501Thr)
n.1885T>A
Xg.18604557T>CCA412362043CDKL5c.1633T>C (p.Ser545Pro)
c.1582T>C (p.Ser528Pro)
c.1501T>C (p.Ser501Pro)
n.1885T>C
Xg.18604557T>GCA412362045CDKL5c.1633T>G (p.Ser545Ala)
c.1582T>G (p.Ser528Ala)
c.1501T>G (p.Ser501Ala)
n.1885T>G
Xg.18604558delCA2819902221CDKL5c.1634del (p.Ser545LeufsTer27)
c.1583del (p.Ser528LeufsTer27)
c.1502del (p.Ser501LeufsTer27)
n.1886del
Xg.18604558C>ACA412362047CDKL5c.1634C>A (p.Ser545Tyr)
c.1583C>A (p.Ser528Tyr)
c.1502C>A (p.Ser501Tyr)
n.1886C>A
Xg.18604558C>GCA412362051CDKL5c.1634C>G (p.Ser545Cys)
c.1583C>G (p.Ser528Cys)
c.1502C>G (p.Ser501Cys)
n.1886C>G
Xg.18604558C>TCA412362049CDKL5c.1634C>T (p.Ser545Phe)
c.1583C>T (p.Ser528Phe)
c.1502C>T (p.Ser501Phe)
n.1886C>T
Xg.18604559T>ACA515627847CDKL5c.1635T>A (p.Ser545=)
c.1584T>A (p.Ser528=)
c.1503T>A (p.Ser501=)
n.1887T>A
Xg.18604559T>CCA515627846CDKL5c.1635T>C (p.Ser545=)
c.1584T>C (p.Ser528=)
c.1503T>C (p.Ser501=)
n.1887T>C
Xg.18604559T>GCA515627845CDKL5c.1635T>G (p.Ser545=)
c.1584T>G (p.Ser528=)
c.1503T>G (p.Ser501=)
n.1887T>G
Xg.18604560G>ACA294753CDKL5c.1636G>A (p.Gly546Arg)
c.1585G>A (p.Gly529Arg)
c.1504G>A (p.Gly502Arg)
n.1888G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.18604560G>CCA412362054CDKL5c.1636G>C (p.Gly546Arg)
c.1585G>C (p.Gly529Arg)
c.1504G>C (p.Gly502Arg)
n.1888G>C
Xg.18604560G=CA2417974448CDKL5c.1636G= (p.Gly546=)
c.1585G= (p.Gly529=)
c.1504G= (p.Gly502=)
n.1888G=
Xg.18604560G>TCA412362056CDKL5c.1636G>T (p.Gly546Ter)
c.1585G>T (p.Gly529Ter)
c.1504G>T (p.Gly502Ter)
n.1888G>T
Xg.18604561G>ACA412362059CDKL5c.1637G>A (p.Gly546Glu)
c.1586G>A (p.Gly529Glu)
c.1505G>A (p.Gly502Glu)
n.1889G>A
Xg.18604561G>CCA412362060CDKL5c.1637G>C (p.Gly546Ala)
c.1586G>C (p.Gly529Ala)
c.1505G>C (p.Gly502Ala)
n.1889G>C
Xg.18604561G>TCA412362062CDKL5c.1637G>T (p.Gly546Val)
c.1586G>T (p.Gly529Val)
c.1505G>T (p.Gly502Val)
n.1889G>T
Xg.18604562A>CCA515627851CDKL5c.1638A>C (p.Gly546=)
c.1587A>C (p.Gly529=)
c.1506A>C (p.Gly502=)
n.1890A>C
Xg.18604562A>GCA515627852CDKL5c.1638A>G (p.Gly546=)
c.1587A>G (p.Gly529=)
c.1506A>G (p.Gly502=)
n.1890A>G
Xg.18604562A>TCA515627853CDKL5c.1638A>T (p.Gly546=)
c.1587A>T (p.Gly529=)
c.1506A>T (p.Gly502=)
n.1890A>T
Xg.18604563A>CCA515627854CDKL5c.1639A>C (p.Arg547=)
c.1588A>C (p.Arg530=)
c.1507A>C (p.Arg503=)
n.1891A>C
Xg.18604563A>GCA412362064CDKL5c.1639A>G (p.Arg547Gly)
c.1588A>G (p.Arg530Gly)
c.1507A>G (p.Arg503Gly)
n.1891A>G
Xg.18604563A>TCA412362066CDKL5c.1639A>T (p.Arg547Ter)
c.1588A>T (p.Arg530Ter)
c.1507A>T (p.Arg503Ter)
n.1891A>T
Xg.18604564G>ACA412362068CDKL5c.1640G>A (p.Arg547Lys)
c.1589G>A (p.Arg530Lys)
c.1508G>A (p.Arg503Lys)
n.1892G>A
 gnomAD v4
Xg.18604564G>CCA412362070CDKL5c.1640G>C (p.Arg547Thr)
c.1589G>C (p.Arg530Thr)
c.1508G>C (p.Arg503Thr)
n.1892G>C
Xg.18604564G>TCA412362072CDKL5c.1640G>T (p.Arg547Ile)
c.1589G>T (p.Arg530Ile)
c.1508G>T (p.Arg503Ile)
n.1892G>T
 COSMIC
Xg.18604565A>CCA412362075CDKL5c.1641A>C (p.Arg547Ser)
c.1590A>C (p.Arg530Ser)
c.1509A>C (p.Arg503Ser)
n.1893A>C
Xg.18604565A>GCA515627859CDKL5c.1641A>G (p.Arg547=)
c.1590A>G (p.Arg530=)
c.1509A>G (p.Arg503=)
n.1893A>G
Xg.18604565A>TCA412362076CDKL5c.1641A>T (p.Arg547Ser)
c.1590A>T (p.Arg530Ser)
c.1509A>T (p.Arg503Ser)
n.1893A>T
Xg.18604566A>CCA412362078CDKL5c.1642A>C (p.Asn548His)
c.1591A>C (p.Asn531His)
c.1510A>C (p.Asn504His)
n.1894A>C
Xg.18604566A>GCA412362081CDKL5c.1642A>G (p.Asn548Asp)
c.1591A>G (p.Asn531Asp)
c.1510A>G (p.Asn504Asp)
n.1894A>G
Xg.18604566A>TCA412362079CDKL5c.1642A>T (p.Asn548Tyr)
c.1591A>T (p.Asn531Tyr)
c.1510A>T (p.Asn504Tyr)
n.1894A>T
Xg.18604567A>CCA412362084CDKL5c.1643A>C (p.Asn548Thr)
c.1592A>C (p.Asn531Thr)
c.1511A>C (p.Asn504Thr)
n.1895A>C
Xg.18604567A>GCA412362086CDKL5c.1643A>G (p.Asn548Ser)
c.1592A>G (p.Asn531Ser)
c.1511A>G (p.Asn504Ser)
n.1895A>G
Xg.18604567A>TCA412362087CDKL5c.1643A>T (p.Asn548Ile)
c.1592A>T (p.Asn531Ile)
c.1511A>T (p.Asn504Ile)
n.1895A>T
Xg.18604568T>ACA412362089CDKL5c.1644T>A (p.Asn548Lys)
c.1593T>A (p.Asn531Lys)
c.1512T>A (p.Asn504Lys)
n.1896T>A
Xg.18604568T>CCA515627861CDKL5c.1644T>C (p.Asn548=)
c.1593T>C (p.Asn531=)
c.1512T>C (p.Asn504=)
n.1896T>C
Xg.18604568T>GCA412362091CDKL5c.1644T>G (p.Asn548Lys)
c.1593T>G (p.Asn531Lys)
c.1512T>G (p.Asn504Lys)
n.1896T>G
Xg.18604569A>CCA412362094CDKL5c.1645A>C (p.Asn549His)
c.1594A>C (p.Asn532His)
c.1513A>C (p.Asn505His)
n.1897A>C
Xg.18604569A>GCA412362095CDKL5c.1645A>G (p.Asn549Asp)
c.1594A>G (p.Asn532Asp)
c.1513A>G (p.Asn505Asp)
n.1897A>G
Xg.18604569A>TCA412362098CDKL5c.1645A>T (p.Asn549Tyr)
c.1594A>T (p.Asn532Tyr)
c.1513A>T (p.Asn505Tyr)
n.1897A>T
Xg.18604570A>CCA412362100CDKL5c.1646A>C (p.Asn549Thr)
c.1595A>C (p.Asn532Thr)
c.1514A>C (p.Asn505Thr)
n.1898A>C
Xg.18604570A>GCA412362103CDKL5c.1646A>G (p.Asn549Ser)
c.1595A>G (p.Asn532Ser)
c.1514A>G (p.Asn505Ser)
n.1898A>G
Xg.18604570A>TCA412362101CDKL5c.1646A>T (p.Asn549Ile)
c.1595A>T (p.Asn532Ile)
c.1514A>T (p.Asn505Ile)
n.1898A>T
Xg.18604571C>ACA412362105CDKL5c.1647C>A (p.Asn549Lys)
c.1596C>A (p.Asn532Lys)
c.1515C>A (p.Asn505Lys)
n.1899C>A
Xg.18604571C>GCA412362107CDKL5c.1647C>G (p.Asn549Lys)
c.1596C>G (p.Asn532Lys)
c.1515C>G (p.Asn505Lys)
n.1899C>G
Xg.18604571C>TCA515627865CDKL5c.1647C>T (p.Asn549=)
c.1596C>T (p.Asn532=)
c.1515C>T (p.Asn505=)
n.1899C>T
 gnomAD v4
Xg.18604572C>ACA515627866CDKL5c.1648C>A (p.Arg550=)
c.1597C>A (p.Arg533=)
c.1516C>A (p.Arg506=)
n.1900C>A
Xg.18604572C=CA2417974449CDKL5c.1648C= (p.Arg550=)
c.1597C= (p.Arg533=)
c.1516C= (p.Arg506=)
n.1900C=
Xg.18604572C>GCA412362109CDKL5c.1648C>G (p.Arg550Gly)
c.1597C>G (p.Arg533Gly)
c.1516C>G (p.Arg506Gly)
n.1900C>G
Xg.18604572C>TCA199285CDKL5c.1648C>T (p.Arg550Ter)
c.1597C>T (p.Arg533Ter)
c.1516C>T (p.Arg506Ter)
n.1900C>T
 ClinVar dbSNP COSMIC
Xg.18604573G>ACA10360400CDKL5c.1649G>A (p.Arg550Gln)
c.1598G>A (p.Arg533Gln)
c.1517G>A (p.Arg506Gln)
n.1901G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.18604573G>CCA412362116CDKL5c.1649G>C (p.Arg550Pro)
c.1598G>C (p.Arg533Pro)
c.1517G>C (p.Arg506Pro)
n.1901G>C
Xg.18604573G=CA2417974450CDKL5c.1649G= (p.Arg550=)
c.1598G= (p.Arg533=)
c.1517G= (p.Arg506=)
n.1901G=
Xg.18604573G>TCA412362113CDKL5c.1649G>T (p.Arg550Leu)
c.1598G>T (p.Arg533Leu)
c.1517G>T (p.Arg506Leu)
n.1901G>T
Xg.18604574A>CCA515627870CDKL5c.1650A>C (p.Arg550=)
c.1599A>C (p.Arg533=)
c.1518A>C (p.Arg506=)
n.1902A>C
Xg.18604574A>GCA515627871CDKL5c.1650A>G (p.Arg550=)
c.1599A>G (p.Arg533=)
c.1518A>G (p.Arg506=)
n.1902A>G
Xg.18604574A>TCA515627872CDKL5c.1650A>T (p.Arg550=)
c.1599A>T (p.Arg533=)
c.1518A>T (p.Arg506=)
n.1902A>T

Number of alleles fetched