Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.18604572C>A | CA515627866 | CDKL5 | c.1648C>A (p.Arg550=) c.1597C>A (p.Arg533=) c.1516C>A (p.Arg506=) n.1900C>A | |
X | g.18604572C= | CA2417974449 | CDKL5 | c.1648C= (p.Arg550=) c.1597C= (p.Arg533=) c.1516C= (p.Arg506=) n.1900C= | |
X | g.18604572C>G | CA412362109 | CDKL5 | c.1648C>G (p.Arg550Gly) c.1597C>G (p.Arg533Gly) c.1516C>G (p.Arg506Gly) n.1900C>G | |
X | g.18604572C>T | CA199285 | CDKL5 | c.1648C>T (p.Arg550Ter) c.1597C>T (p.Arg533Ter) c.1516C>T (p.Arg506Ter) n.1900C>T | ClinVar dbSNP COSMIC |
X | g.18604573G>A | CA10360400 | CDKL5 | c.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 |
X | g.18604573G>C | CA412362116 | CDKL5 | c.1649G>C (p.Arg550Pro) c.1598G>C (p.Arg533Pro) c.1517G>C (p.Arg506Pro) n.1901G>C | |
X | g.18604573G= | CA2417974450 | CDKL5 | c.1649G= (p.Arg550=) c.1598G= (p.Arg533=) c.1517G= (p.Arg506=) n.1901G= | |
X | g.18604573G>T | CA412362113 | CDKL5 | c.1649G>T (p.Arg550Leu) c.1598G>T (p.Arg533Leu) c.1517G>T (p.Arg506Leu) n.1901G>T | |
X | g.18604574A>C | CA515627870 | CDKL5 | c.1650A>C (p.Arg550=) c.1599A>C (p.Arg533=) c.1518A>C (p.Arg506=) n.1902A>C | |
X | g.18604574A>G | CA515627871 | CDKL5 | c.1650A>G (p.Arg550=) c.1599A>G (p.Arg533=) c.1518A>G (p.Arg506=) n.1902A>G | |
X | g.18604574A>T | CA515627872 | CDKL5 | c.1650A>T (p.Arg550=) c.1599A>T (p.Arg533=) c.1518A>T (p.Arg506=) n.1902A>T | |
X | g.18604575A>C | CA412362117 | CDKL5 | c.1651A>C (p.Asn551His) c.1600A>C (p.Asn534His) c.1519A>C (p.Asn507His) n.1903A>C | |
X | g.18604575A>G | CA412362119 | CDKL5 | c.1651A>G (p.Asn551Asp) c.1600A>G (p.Asn534Asp) c.1519A>G (p.Asn507Asp) n.1903A>G | |
X | g.18604575A>T | CA412362121 | CDKL5 | c.1651A>T (p.Asn551Tyr) c.1600A>T (p.Asn534Tyr) c.1519A>T (p.Asn507Tyr) n.1903A>T | |
X | g.18604576A>C | CA412362123 | CDKL5 | c.1652A>C (p.Asn551Thr) c.1601A>C (p.Asn534Thr) c.1520A>C (p.Asn507Thr) n.1904A>C | |
X | g.18604576A>G | CA412362125 | CDKL5 | c.1652A>G (p.Asn551Ser) c.1601A>G (p.Asn534Ser) c.1520A>G (p.Asn507Ser) n.1904A>G | |
X | g.18604576A>T | CA412362127 | CDKL5 | c.1652A>T (p.Asn551Ile) c.1601A>T (p.Asn534Ile) c.1520A>T (p.Asn507Ile) n.1904A>T | |
X | g.18604577T>A | CA412362129 | CDKL5 | c.1653T>A (p.Asn551Lys) c.1602T>A (p.Asn534Lys) c.1521T>A (p.Asn507Lys) n.1905T>A | dbSNP gnomAD v3 gnomAD v4 |
X | g.18604577T>C | CA515627874 | CDKL5 | c.1653T>C (p.Asn551=) c.1602T>C (p.Asn534=) c.1521T>C (p.Asn507=) n.1905T>C | |
X | g.18604577T>G | CA412362130 | CDKL5 | c.1653T>G (p.Asn551Lys) c.1602T>G (p.Asn534Lys) c.1521T>G (p.Asn507Lys) n.1905T>G | |
X | g.18604577T= | CA2417974451 | CDKL5 | c.1653T= (p.Asn551=) c.1602T= (p.Asn534=) c.1521T= (p.Asn507=) n.1905T= | |
X | g.18604578G>A | CA412362134 | CDKL5 | c.1654G>A (p.Glu552Lys) c.1603G>A (p.Glu535Lys) c.1522G>A (p.Glu508Lys) n.1906G>A | |
X | g.18604578G>C | CA412362136 | CDKL5 | c.1654G>C (p.Glu552Gln) c.1603G>C (p.Glu535Gln) c.1522G>C (p.Glu508Gln) n.1906G>C | gnomAD v4 |
X | g.18604578G>T | CA412362138 | CDKL5 | c.1654G>T (p.Glu552Ter) c.1603G>T (p.Glu535Ter) c.1522G>T (p.Glu508Ter) n.1906G>T | |
X | g.18604579A>C | CA412362140 | CDKL5 | c.1655A>C (p.Glu552Ala) c.1604A>C (p.Glu535Ala) c.1523A>C (p.Glu508Ala) n.1907A>C | |
X | g.18604579A>G | CA412362144 | CDKL5 | c.1655A>G (p.Glu552Gly) c.1604A>G (p.Glu535Gly) c.1523A>G (p.Glu508Gly) n.1907A>G | |
X | g.18604579A>T | CA412362142 | CDKL5 | c.1655A>T (p.Glu552Val) c.1604A>T (p.Glu535Val) c.1523A>T (p.Glu508Val) n.1907A>T | |
X | g.18604580G>A | CA515627876 | CDKL5 | c.1656G>A (p.Glu552=) c.1605G>A (p.Glu535=) c.1524G>A (p.Glu508=) n.1908G>A | |
X | g.18604580G>C | CA412362146 | CDKL5 | c.1656G>C (p.Glu552Asp) c.1605G>C (p.Glu535Asp) c.1524G>C (p.Glu508Asp) n.1908G>C | |
X | g.18604580G>T | CA412362148 | CDKL5 | c.1656G>T (p.Glu552Asp) c.1605G>T (p.Glu535Asp) c.1524G>T (p.Glu508Asp) n.1908G>T | |
X | g.18604581G>A | CA412362150 | CDKL5 | c.1657G>A (p.Gly553Arg) c.1606G>A (p.Gly536Arg) c.1525G>A (p.Gly509Arg) n.1909G>A | ClinVar |
X | g.18604581G>C | CA412362152 | CDKL5 | c.1657G>C (p.Gly553Arg) c.1606G>C (p.Gly536Arg) c.1525G>C (p.Gly509Arg) n.1909G>C | |
X | g.18604581G>T | CA412362153 | CDKL5 | c.1657G>T (p.Gly553Ter) c.1606G>T (p.Gly536Ter) c.1525G>T (p.Gly509Ter) n.1909G>T | |
X | g.18604582G>A | CA412362156 | CDKL5 | c.1658G>A (p.Gly553Glu) c.1607G>A (p.Gly536Glu) c.1526G>A (p.Gly509Glu) n.1910G>A | gnomAD v4 |
X | g.18604582G>C | CA412362158 | CDKL5 | c.1658G>C (p.Gly553Ala) c.1607G>C (p.Gly536Ala) c.1526G>C (p.Gly509Ala) n.1910G>C | |
X | g.18604582G= | CA2417974452 | CDKL5 | c.1658G= (p.Gly553=) c.1607G= (p.Gly536=) c.1526G= (p.Gly509=) n.1910G= | |
X | g.18604582G>T | CA412362159 | CDKL5 | c.1658G>T (p.Gly553Val) c.1607G>T (p.Gly536Val) c.1526G>T (p.Gly509Val) n.1910G>T | dbSNP gnomAD v2 |
X | g.18604583A>C | CA515627880 | CDKL5 | c.1659A>C (p.Gly553=) c.1608A>C (p.Gly536=) c.1527A>C (p.Gly509=) n.1911A>C | |
X | g.18604583A>G | CA515627881 | CDKL5 | c.1659A>G (p.Gly553=) c.1608A>G (p.Gly536=) c.1527A>G (p.Gly509=) n.1911A>G | |
X | g.18604583A>T | CA515627882 | CDKL5 | c.1659A>T (p.Gly553=) c.1608A>T (p.Gly536=) c.1527A>T (p.Gly509=) n.1911A>T | |
X | g.18604584A>C | CA412362161 | CDKL5 | c.1660A>C (p.Thr554Pro) c.1609A>C (p.Thr537Pro) c.1528A>C (p.Thr510Pro) n.1912A>C | |
X | g.18604584A>G | CA412362162 | CDKL5 | c.1660A>G (p.Thr554Ala) c.1609A>G (p.Thr537Ala) c.1528A>G (p.Thr510Ala) n.1912A>G | |
X | g.18604584A>T | CA412362163 | CDKL5 | c.1660A>T (p.Thr554Ser) c.1609A>T (p.Thr537Ser) c.1528A>T (p.Thr510Ser) n.1912A>T | |
X | g.18604585C>A | CA412362166 | CDKL5 | c.1661C>A (p.Thr554Lys) c.1610C>A (p.Thr537Lys) c.1529C>A (p.Thr510Lys) n.1913C>A | |
X | g.18604585C= | CA2417974453 | CDKL5 | c.1661C= (p.Thr554=) c.1610C= (p.Thr537=) c.1529C= (p.Thr510=) n.1913C= | |
X | g.18604585C>G | CA412362167 | CDKL5 | c.1661C>G (p.Thr554Arg) c.1610C>G (p.Thr537Arg) c.1529C>G (p.Thr510Arg) n.1913C>G | |
X | g.18604585C>T | CA412362169 | CDKL5 | c.1661C>T (p.Thr554Met) c.1610C>T (p.Thr537Met) c.1529C>T (p.Thr510Met) n.1913C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604586G>A | CA10360401 | CDKL5 | c.1662G>A (p.Thr554=) c.1611G>A (p.Thr537=) c.1530G>A (p.Thr510=) n.1914G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604586G>C | CA515627884 | CDKL5 | c.1662G>C (p.Thr554=) c.1611G>C (p.Thr537=) c.1530G>C (p.Thr510=) n.1914G>C | |
X | g.18604586G= | CA2417974454 | CDKL5 | c.1662G= (p.Thr554=) c.1611G= (p.Thr537=) c.1530G= (p.Thr510=) n.1914G= |