| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |