Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.18604536_18604537del | CA2580615397 | CDKL5 | c.1612_1613del (p.Thr538GlufsTer11) c.1561_1562del (p.Thr521GlufsTer11) c.1480_1481del (p.Thr494GlufsTer11) n.1864_1865del | ClinVar dbSNP |
X | g.18604535C>A | CA412361950 | CDKL5 | c.1611C>A (p.Asp537Glu) c.1560C>A (p.Asp520Glu) c.1479C>A (p.Asp493Glu) n.1863C>A | |
X | g.18604535C>G | CA412361952 | CDKL5 | c.1611C>G (p.Asp537Glu) c.1560C>G (p.Asp520Glu) c.1479C>G (p.Asp493Glu) n.1863C>G | |
X | g.18604535C>T | CA515627817 | CDKL5 | c.1611C>T (p.Asp537=) c.1560C>T (p.Asp520=) c.1479C>T (p.Asp493=) n.1863C>T | |
X | g.18604536A= | CA2417974441 | CDKL5 | c.1612A= (p.Thr538=) c.1561A= (p.Thr521=) c.1480A= (p.Thr494=) n.1864A= | |
X | g.18604536A>C | CA412361957 | CDKL5 | c.1612A>C (p.Thr538Pro) c.1561A>C (p.Thr521Pro) c.1480A>C (p.Thr494Pro) n.1864A>C | |
X | g.18604536A>G | CA412361958 | CDKL5 | c.1612A>G (p.Thr538Ala) c.1561A>G (p.Thr521Ala) c.1480A>G (p.Thr494Ala) n.1864A>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.18604536A>T | CA412361955 | CDKL5 | c.1612A>T (p.Thr538Ser) c.1561A>T (p.Thr521Ser) c.1480A>T (p.Thr494Ser) n.1864A>T | |
X | g.18604537C>A | CA412361960 | CDKL5 | c.1613C>A (p.Thr538Lys) c.1562C>A (p.Thr521Lys) c.1481C>A (p.Thr494Lys) n.1865C>A | ClinVar |
X | g.18604537C= | CA2417974442 | CDKL5 | c.1613C= (p.Thr538=) c.1562C= (p.Thr521=) c.1481C= (p.Thr494=) n.1865C= | |
X | g.18604537C>G | CA412361962 | CDKL5 | c.1613C>G (p.Thr538Arg) c.1562C>G (p.Thr521Arg) c.1481C>G (p.Thr494Arg) n.1865C>G | |
X | g.18604537C>T | CA412361964 | CDKL5 | c.1613C>T (p.Thr538Met) c.1562C>T (p.Thr521Met) c.1481C>T (p.Thr494Met) n.1865C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.18604538G>A | CA10360398 | CDKL5 | c.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 |
X | g.18604538G>C | CA515627818 | CDKL5 | c.1614G>C (p.Thr538=) c.1563G>C (p.Thr521=) c.1482G>C (p.Thr494=) n.1866G>C | |
X | g.18604538G= | CA2417974443 | CDKL5 | c.1614G= (p.Thr538=) c.1563G= (p.Thr521=) c.1482G= (p.Thr494=) n.1866G= | |
X | g.18604538G>T | CA515627819 | CDKL5 | c.1614G>T (p.Thr538=) c.1563G>T (p.Thr521=) c.1482G>T (p.Thr494=) n.1866G>T | |
X | g.18604539A>C | CA515627820 | CDKL5 | c.1615A>C (p.Arg539=) c.1564A>C (p.Arg522=) c.1483A>C (p.Arg495=) n.1867A>C | |
X | g.18604539A>G | CA412361967 | CDKL5 | c.1615A>G (p.Arg539Gly) c.1564A>G (p.Arg522Gly) c.1483A>G (p.Arg495Gly) n.1867A>G | |
X | g.18604539A>T | CA412361968 | CDKL5 | c.1615A>T (p.Arg539Ter) c.1564A>T (p.Arg522Ter) c.1483A>T (p.Arg495Ter) n.1867A>T | |
X | g.18604540G>A | CA412361974 | CDKL5 | c.1616G>A (p.Arg539Lys) c.1565G>A (p.Arg522Lys) c.1484G>A (p.Arg495Lys) n.1868G>A | gnomAD v4 |
X | g.18604540G>C | CA412361970 | CDKL5 | c.1616G>C (p.Arg539Thr) c.1565G>C (p.Arg522Thr) c.1484G>C (p.Arg495Thr) n.1868G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.18604540G= | CA2417974444 | CDKL5 | c.1616G= (p.Arg539=) c.1565G= (p.Arg522=) c.1484G= (p.Arg495=) n.1868G= | |
X | g.18604540G>T | CA412361972 | CDKL5 | c.1616G>T (p.Arg539Ile) c.1565G>T (p.Arg522Ile) c.1484G>T (p.Arg495Ile) n.1868G>T | |
X | g.18604541A>C | CA412361976 | CDKL5 | c.1617A>C (p.Arg539Ser) c.1566A>C (p.Arg522Ser) c.1485A>C (p.Arg495Ser) n.1869A>C | |
X | g.18604541A>G | CA515627822 | CDKL5 | c.1617A>G (p.Arg539=) c.1566A>G (p.Arg522=) c.1485A>G (p.Arg495=) n.1869A>G | |
X | g.18604541A>T | CA412361978 | CDKL5 | c.1617A>T (p.Arg539Ser) c.1566A>T (p.Arg522Ser) c.1485A>T (p.Arg495Ser) n.1869A>T | |
X | g.18604542A>C | CA412361980 | CDKL5 | c.1618A>C (p.Thr540Pro) c.1567A>C (p.Thr523Pro) c.1486A>C (p.Thr496Pro) n.1870A>C | |
X | g.18604542A>G | CA412361982 | CDKL5 | c.1618A>G (p.Thr540Ala) c.1567A>G (p.Thr523Ala) c.1486A>G (p.Thr496Ala) n.1870A>G | |
X | g.18604542A>T | CA412361983 | CDKL5 | c.1618A>T (p.Thr540Ser) c.1567A>T (p.Thr523Ser) c.1486A>T (p.Thr496Ser) n.1870A>T | |
X | g.18604543C>A | CA412361986 | CDKL5 | c.1619C>A (p.Thr540Asn) c.1568C>A (p.Thr523Asn) c.1487C>A (p.Thr496Asn) n.1871C>A | |
X | g.18604543C>G | CA412361989 | CDKL5 | c.1619C>G (p.Thr540Ser) c.1568C>G (p.Thr523Ser) c.1487C>G (p.Thr496Ser) n.1871C>G | |
X | g.18604543C>T | CA412361988 | CDKL5 | c.1619C>T (p.Thr540Ile) c.1568C>T (p.Thr523Ile) c.1487C>T (p.Thr496Ile) n.1871C>T | COSMIC |
X | g.18604544T>A | CA515627824 | CDKL5 | c.1620T>A (p.Thr540=) c.1569T>A (p.Thr523=) c.1488T>A (p.Thr496=) n.1872T>A | |
X | g.18604544T>C | CA515627826 | CDKL5 | c.1620T>C (p.Thr540=) c.1569T>C (p.Thr523=) c.1488T>C (p.Thr496=) n.1872T>C | |
X | g.18604544T>G | CA515627827 | CDKL5 | c.1620T>G (p.Thr540=) c.1569T>G (p.Thr523=) c.1488T>G (p.Thr496=) n.1872T>G | |
X | g.18604545T>A | CA412361991 | CDKL5 | c.1621T>A (p.Leu541Met) c.1570T>A (p.Leu524Met) c.1489T>A (p.Leu497Met) n.1873T>A | |
X | g.18604545T>C | CA515627828 | CDKL5 | c.1621T>C (p.Leu541=) c.1570T>C (p.Leu524=) c.1489T>C (p.Leu497=) n.1873T>C | |
X | g.18604545T>G | CA412361993 | CDKL5 | c.1621T>G (p.Leu541Val) c.1570T>G (p.Leu524Val) c.1489T>G (p.Leu497Val) n.1873T>G | dbSNP |
X | g.18604545T= | CA2417974445 | CDKL5 | c.1621T= (p.Leu541=) c.1570T= (p.Leu524=) c.1489T= (p.Leu497=) n.1873T= | |
X | g.18604546T>A | CA412361995 | CDKL5 | c.1622T>A (p.Leu541Ter) c.1571T>A (p.Leu524Ter) c.1490T>A (p.Leu497Ter) n.1874T>A | |
X | g.18604546T>C | CA412361997 | CDKL5 | c.1622T>C (p.Leu541Ser) c.1571T>C (p.Leu524Ser) c.1490T>C (p.Leu497Ser) n.1874T>C | |
X | g.18604546T>G | CA412361999 | CDKL5 | c.1622T>G (p.Leu541Trp) c.1571T>G (p.Leu524Trp) c.1490T>G (p.Leu497Trp) n.1874T>G | |
X | g.18604547G>A | CA515627832 | CDKL5 | c.1623G>A (p.Leu541=) c.1572G>A (p.Leu524=) c.1491G>A (p.Leu497=) n.1875G>A | |
X | g.18604547G>C | CA412362001 | CDKL5 | c.1623G>C (p.Leu541Phe) c.1572G>C (p.Leu524Phe) c.1491G>C (p.Leu497Phe) n.1875G>C | COSMIC |
X | g.18604547G>T | CA412362002 | CDKL5 | c.1623G>T (p.Leu541Phe) c.1572G>T (p.Leu524Phe) c.1491G>T (p.Leu497Phe) n.1875G>T | |
X | g.18604548C>A | CA412362003 | CDKL5 | c.1624C>A (p.Leu542Ile) c.1573C>A (p.Leu525Ile) c.1492C>A (p.Leu498Ile) n.1876C>A | |
X | g.18604548C>G | CA412362004 | CDKL5 | c.1624C>G (p.Leu542Val) c.1573C>G (p.Leu525Val) c.1492C>G (p.Leu498Val) n.1876C>G | |
X | g.18604548C>T | CA412362006 | CDKL5 | c.1624C>T (p.Leu542Phe) c.1573C>T (p.Leu525Phe) c.1492C>T (p.Leu498Phe) n.1876C>T | |
X | g.18604549T>A | CA412362009 | CDKL5 | c.1625T>A (p.Leu542His) c.1574T>A (p.Leu525His) c.1493T>A (p.Leu498His) n.1877T>A | |
X | g.18604549T>C | CA412362010 | CDKL5 | c.1625T>C (p.Leu542Pro) c.1574T>C (p.Leu525Pro) c.1493T>C (p.Leu498Pro) n.1877T>C | gnomAD v4 |
X | g.18604549T>G | CA412362012 | CDKL5 | c.1625T>G (p.Leu542Arg) c.1574T>G (p.Leu525Arg) c.1493T>G (p.Leu498Arg) n.1877T>G | |
X | g.18604550C>A | CA515627834 | CDKL5 | c.1626C>A (p.Leu542=) c.1575C>A (p.Leu525=) c.1494C>A (p.Leu498=) n.1878C>A | gnomAD v4 |
X | g.18604550C>G | CA515627836 | CDKL5 | c.1626C>G (p.Leu542=) c.1575C>G (p.Leu525=) c.1494C>G (p.Leu498=) n.1878C>G | |
X | g.18604550C>T | CA515627837 | CDKL5 | c.1626C>T (p.Leu542=) c.1575C>T (p.Leu525=) c.1494C>T (p.Leu498=) n.1878C>T | |
X | g.18604551A>C | CA412362016 | CDKL5 | c.1627A>C (p.Ser543Arg) c.1576A>C (p.Ser526Arg) c.1495A>C (p.Ser499Arg) n.1879A>C | |
X | g.18604551A>G | CA412362019 | CDKL5 | c.1627A>G (p.Ser543Gly) c.1576A>G (p.Ser526Gly) c.1495A>G (p.Ser499Gly) n.1879A>G | |
X | g.18604551A>T | CA412362015 | CDKL5 | c.1627A>T (p.Ser543Cys) c.1576A>T (p.Ser526Cys) c.1495A>T (p.Ser499Cys) n.1879A>T | |
X | g.18604552G>A | CA412362020 | CDKL5 | c.1628G>A (p.Ser543Asn) c.1577G>A (p.Ser526Asn) c.1496G>A (p.Ser499Asn) n.1880G>A | |
X | g.18604552G>C | CA412362022 | CDKL5 | c.1628G>C (p.Ser543Thr) c.1577G>C (p.Ser526Thr) c.1496G>C (p.Ser499Thr) n.1880G>C | |
X | g.18604552G>T | CA412362024 | CDKL5 | c.1628G>T (p.Ser543Ile) c.1577G>T (p.Ser526Ile) c.1496G>T (p.Ser499Ile) n.1880G>T | |
X | g.18604552dup | CA2499226537 | CDKL5 | c.1628dup (p.Ser543ArgfsTer7) c.1577dup (p.Ser526ArgfsTer7) c.1496dup (p.Ser499ArgfsTer7) n.1880dup | ClinVar dbSNP |
X | g.18604553C>A | CA412362025 | CDKL5 | c.1629C>A (p.Ser543Arg) c.1578C>A (p.Ser526Arg) c.1497C>A (p.Ser499Arg) n.1881C>A | |
X | g.18604553C>G | CA412362027 | CDKL5 | c.1629C>G (p.Ser543Arg) c.1578C>G (p.Ser526Arg) c.1497C>G (p.Ser499Arg) n.1881C>G | |
X | g.18604553C>T | CA515627839 | CDKL5 | c.1629C>T (p.Ser543=) c.1578C>T (p.Ser526=) c.1497C>T (p.Ser499=) n.1881C>T | |
X | g.18604554C>A | CA412362032 | CDKL5 | c.1630C>A (p.Pro544Thr) c.1579C>A (p.Pro527Thr) c.1498C>A (p.Pro500Thr) n.1882C>A | |
X | g.18604554C>G | CA412362030 | CDKL5 | c.1630C>G (p.Pro544Ala) c.1579C>G (p.Pro527Ala) c.1498C>G (p.Pro500Ala) n.1882C>G | |
X | g.18604554C>T | CA412362029 | CDKL5 | c.1630C>T (p.Pro544Ser) c.1579C>T (p.Pro527Ser) c.1498C>T (p.Pro500Ser) n.1882C>T | |
X | g.18604555C>A | CA412362034 | CDKL5 | c.1631C>A (p.Pro544His) c.1580C>A (p.Pro527His) c.1499C>A (p.Pro500His) n.1883C>A | |
X | g.18604555C= | CA2417974446 | CDKL5 | c.1631C= (p.Pro544=) c.1580C= (p.Pro527=) c.1499C= (p.Pro500=) n.1883C= | |
X | g.18604555C>G | CA412362036 | CDKL5 | c.1631C>G (p.Pro544Arg) c.1580C>G (p.Pro527Arg) c.1499C>G (p.Pro500Arg) n.1883C>G | |
X | g.18604555C>T | CA412362038 | CDKL5 | c.1631C>T (p.Pro544Leu) c.1580C>T (p.Pro527Leu) c.1499C>T (p.Pro500Leu) n.1883C>T | dbSNP |
X | g.18604556T>A | CA10360399 | CDKL5 | c.1632T>A (p.Pro544=) c.1581T>A (p.Pro527=) c.1500T>A (p.Pro500=) n.1884T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604556T>C | CA515627842 | CDKL5 | c.1632T>C (p.Pro544=) c.1581T>C (p.Pro527=) c.1500T>C (p.Pro500=) n.1884T>C | |
X | g.18604556T>G | CA515627843 | CDKL5 | c.1632T>G (p.Pro544=) c.1581T>G (p.Pro527=) c.1500T>G (p.Pro500=) n.1884T>G | |
X | g.18604556T= | CA2417974447 | CDKL5 | c.1632T= (p.Pro544=) c.1581T= (p.Pro527=) c.1500T= (p.Pro500=) n.1884T= | |
X | g.18604557del | CA2579562929 | CDKL5 | c.1633del (p.Ser545LeufsTer27) c.1582del (p.Ser528LeufsTer27) c.1501del (p.Ser501LeufsTer27) n.1885del | |
X | g.18604557T>A | CA412362041 | CDKL5 | c.1633T>A (p.Ser545Thr) c.1582T>A (p.Ser528Thr) c.1501T>A (p.Ser501Thr) n.1885T>A | |
X | g.18604557T>C | CA412362043 | CDKL5 | c.1633T>C (p.Ser545Pro) c.1582T>C (p.Ser528Pro) c.1501T>C (p.Ser501Pro) n.1885T>C | |
X | g.18604557T>G | CA412362045 | CDKL5 | c.1633T>G (p.Ser545Ala) c.1582T>G (p.Ser528Ala) c.1501T>G (p.Ser501Ala) n.1885T>G | |
X | g.18604558del | CA2819902221 | CDKL5 | c.1634del (p.Ser545LeufsTer27) c.1583del (p.Ser528LeufsTer27) c.1502del (p.Ser501LeufsTer27) n.1886del | |
X | g.18604558C>A | CA412362047 | CDKL5 | c.1634C>A (p.Ser545Tyr) c.1583C>A (p.Ser528Tyr) c.1502C>A (p.Ser501Tyr) n.1886C>A | |
X | g.18604558C>G | CA412362051 | CDKL5 | c.1634C>G (p.Ser545Cys) c.1583C>G (p.Ser528Cys) c.1502C>G (p.Ser501Cys) n.1886C>G | |
X | g.18604558C>T | CA412362049 | CDKL5 | c.1634C>T (p.Ser545Phe) c.1583C>T (p.Ser528Phe) c.1502C>T (p.Ser501Phe) n.1886C>T | |
X | g.18604559T>A | CA515627847 | CDKL5 | c.1635T>A (p.Ser545=) c.1584T>A (p.Ser528=) c.1503T>A (p.Ser501=) n.1887T>A | |
X | g.18604559T>C | CA515627846 | CDKL5 | c.1635T>C (p.Ser545=) c.1584T>C (p.Ser528=) c.1503T>C (p.Ser501=) n.1887T>C | |
X | g.18604559T>G | CA515627845 | CDKL5 | c.1635T>G (p.Ser545=) c.1584T>G (p.Ser528=) c.1503T>G (p.Ser501=) n.1887T>G | |
X | g.18604560G>A | CA294753 | CDKL5 | c.1636G>A (p.Gly546Arg) c.1585G>A (p.Gly529Arg) c.1504G>A (p.Gly502Arg) n.1888G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18604560G>C | CA412362054 | CDKL5 | c.1636G>C (p.Gly546Arg) c.1585G>C (p.Gly529Arg) c.1504G>C (p.Gly502Arg) n.1888G>C | |
X | g.18604560G= | CA2417974448 | CDKL5 | c.1636G= (p.Gly546=) c.1585G= (p.Gly529=) c.1504G= (p.Gly502=) n.1888G= | |
X | g.18604560G>T | CA412362056 | CDKL5 | c.1636G>T (p.Gly546Ter) c.1585G>T (p.Gly529Ter) c.1504G>T (p.Gly502Ter) n.1888G>T | |
X | g.18604561G>A | CA412362059 | CDKL5 | c.1637G>A (p.Gly546Glu) c.1586G>A (p.Gly529Glu) c.1505G>A (p.Gly502Glu) n.1889G>A | |
X | g.18604561G>C | CA412362060 | CDKL5 | c.1637G>C (p.Gly546Ala) c.1586G>C (p.Gly529Ala) c.1505G>C (p.Gly502Ala) n.1889G>C | |
X | g.18604561G>T | CA412362062 | CDKL5 | c.1637G>T (p.Gly546Val) c.1586G>T (p.Gly529Val) c.1505G>T (p.Gly502Val) n.1889G>T | |
X | g.18604562A>C | CA515627851 | CDKL5 | c.1638A>C (p.Gly546=) c.1587A>C (p.Gly529=) c.1506A>C (p.Gly502=) n.1890A>C | |
X | g.18604562A>G | CA515627852 | CDKL5 | c.1638A>G (p.Gly546=) c.1587A>G (p.Gly529=) c.1506A>G (p.Gly502=) n.1890A>G | |
X | g.18604562A>T | CA515627853 | CDKL5 | c.1638A>T (p.Gly546=) c.1587A>T (p.Gly529=) c.1506A>T (p.Gly502=) n.1890A>T | |
X | g.18604563A>C | CA515627854 | CDKL5 | c.1639A>C (p.Arg547=) c.1588A>C (p.Arg530=) c.1507A>C (p.Arg503=) n.1891A>C | |
X | g.18604563A>G | CA412362064 | CDKL5 | c.1639A>G (p.Arg547Gly) c.1588A>G (p.Arg530Gly) c.1507A>G (p.Arg503Gly) n.1891A>G | |
X | g.18604563A>T | CA412362066 | CDKL5 | c.1639A>T (p.Arg547Ter) c.1588A>T (p.Arg530Ter) c.1507A>T (p.Arg503Ter) n.1891A>T | |
X | g.18604564G>A | CA412362068 | CDKL5 | c.1640G>A (p.Arg547Lys) c.1589G>A (p.Arg530Lys) c.1508G>A (p.Arg503Lys) n.1892G>A | gnomAD v4 |
X | g.18604564G>C | CA412362070 | CDKL5 | c.1640G>C (p.Arg547Thr) c.1589G>C (p.Arg530Thr) c.1508G>C (p.Arg503Thr) n.1892G>C | |
X | g.18604564G>T | CA412362072 | CDKL5 | c.1640G>T (p.Arg547Ile) c.1589G>T (p.Arg530Ile) c.1508G>T (p.Arg503Ile) n.1892G>T | COSMIC |
X | g.18604565A>C | CA412362075 | CDKL5 | c.1641A>C (p.Arg547Ser) c.1590A>C (p.Arg530Ser) c.1509A>C (p.Arg503Ser) n.1893A>C | |
X | g.18604565A>G | CA515627859 | CDKL5 | c.1641A>G (p.Arg547=) c.1590A>G (p.Arg530=) c.1509A>G (p.Arg503=) n.1893A>G | |
X | g.18604565A>T | CA412362076 | CDKL5 | c.1641A>T (p.Arg547Ser) c.1590A>T (p.Arg530Ser) c.1509A>T (p.Arg503Ser) n.1893A>T | |
X | g.18604566A>C | CA412362078 | CDKL5 | c.1642A>C (p.Asn548His) c.1591A>C (p.Asn531His) c.1510A>C (p.Asn504His) n.1894A>C | |
X | g.18604566A>G | CA412362081 | CDKL5 | c.1642A>G (p.Asn548Asp) c.1591A>G (p.Asn531Asp) c.1510A>G (p.Asn504Asp) n.1894A>G | |
X | g.18604566A>T | CA412362079 | CDKL5 | c.1642A>T (p.Asn548Tyr) c.1591A>T (p.Asn531Tyr) c.1510A>T (p.Asn504Tyr) n.1894A>T | |
X | g.18604567A>C | CA412362084 | CDKL5 | c.1643A>C (p.Asn548Thr) c.1592A>C (p.Asn531Thr) c.1511A>C (p.Asn504Thr) n.1895A>C | |
X | g.18604567A>G | CA412362086 | CDKL5 | c.1643A>G (p.Asn548Ser) c.1592A>G (p.Asn531Ser) c.1511A>G (p.Asn504Ser) n.1895A>G | |
X | g.18604567A>T | CA412362087 | CDKL5 | c.1643A>T (p.Asn548Ile) c.1592A>T (p.Asn531Ile) c.1511A>T (p.Asn504Ile) n.1895A>T | |
X | g.18604568T>A | CA412362089 | CDKL5 | c.1644T>A (p.Asn548Lys) c.1593T>A (p.Asn531Lys) c.1512T>A (p.Asn504Lys) n.1896T>A | |
X | g.18604568T>C | CA515627861 | CDKL5 | c.1644T>C (p.Asn548=) c.1593T>C (p.Asn531=) c.1512T>C (p.Asn504=) n.1896T>C | |
X | g.18604568T>G | CA412362091 | CDKL5 | c.1644T>G (p.Asn548Lys) c.1593T>G (p.Asn531Lys) c.1512T>G (p.Asn504Lys) n.1896T>G | |
X | g.18604569A>C | CA412362094 | CDKL5 | c.1645A>C (p.Asn549His) c.1594A>C (p.Asn532His) c.1513A>C (p.Asn505His) n.1897A>C | |
X | g.18604569A>G | CA412362095 | CDKL5 | c.1645A>G (p.Asn549Asp) c.1594A>G (p.Asn532Asp) c.1513A>G (p.Asn505Asp) n.1897A>G | |
X | g.18604569A>T | CA412362098 | CDKL5 | c.1645A>T (p.Asn549Tyr) c.1594A>T (p.Asn532Tyr) c.1513A>T (p.Asn505Tyr) n.1897A>T | |
X | g.18604570A>C | CA412362100 | CDKL5 | c.1646A>C (p.Asn549Thr) c.1595A>C (p.Asn532Thr) c.1514A>C (p.Asn505Thr) n.1898A>C | |
X | g.18604570A>G | CA412362103 | CDKL5 | c.1646A>G (p.Asn549Ser) c.1595A>G (p.Asn532Ser) c.1514A>G (p.Asn505Ser) n.1898A>G | |
X | g.18604570A>T | CA412362101 | CDKL5 | c.1646A>T (p.Asn549Ile) c.1595A>T (p.Asn532Ile) c.1514A>T (p.Asn505Ile) n.1898A>T | |
X | g.18604571C>A | CA412362105 | CDKL5 | c.1647C>A (p.Asn549Lys) c.1596C>A (p.Asn532Lys) c.1515C>A (p.Asn505Lys) n.1899C>A | |
X | g.18604571C>G | CA412362107 | CDKL5 | c.1647C>G (p.Asn549Lys) c.1596C>G (p.Asn532Lys) c.1515C>G (p.Asn505Lys) n.1899C>G | |
X | g.18604571C>T | CA515627865 | CDKL5 | c.1647C>T (p.Asn549=) c.1596C>T (p.Asn532=) c.1515C>T (p.Asn505=) n.1899C>T | gnomAD v4 |
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= | |
X | g.18604586G>T | CA515627883 | CDKL5 | c.1662G>T (p.Thr554=) c.1611G>T (p.Thr537=) c.1530G>T (p.Thr510=) n.1914G>T | dbSNP |
X | g.18604587C>A | CA412362172 | CDKL5 | c.1663C>A (p.Leu555Met) c.1612C>A (p.Leu538Met) c.1531C>A (p.Leu511Met) n.1915C>A | |
X | g.18604587C= | CA2417974455 | CDKL5 | c.1663C= (p.Leu555=) c.1612C= (p.Leu538=) c.1531C= (p.Leu511=) n.1915C= | |
X | g.18604587C>G | CA412362175 | CDKL5 | c.1663C>G (p.Leu555Val) c.1612C>G (p.Leu538Val) c.1531C>G (p.Leu511Val) n.1915C>G | |
X | g.18604587C>T | CA10360402 | CDKL5 | c.1663C>T (p.Leu555=) c.1612C>T (p.Leu538=) c.1531C>T (p.Leu511=) n.1915C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604588T>A | CA412362177 | CDKL5 | c.1664T>A (p.Leu555Gln) c.1613T>A (p.Leu538Gln) c.1532T>A (p.Leu511Gln) n.1916T>A | |
X | g.18604588T>C | CA412362179 | CDKL5 | c.1664T>C (p.Leu555Pro) c.1613T>C (p.Leu538Pro) c.1532T>C (p.Leu511Pro) n.1916T>C | gnomAD v4 |
X | g.18604588T>G | CA412362181 | CDKL5 | c.1664T>G (p.Leu555Arg) c.1613T>G (p.Leu538Arg) c.1532T>G (p.Leu511Arg) n.1916T>G | |
X | g.18604589G>A | CA515627887 | CDKL5 | c.1665G>A (p.Leu555=) c.1614G>A (p.Leu538=) c.1533G>A (p.Leu511=) n.1917G>A | |
X | g.18604589G>C | CA515627886 | CDKL5 | c.1665G>C (p.Leu555=) c.1614G>C (p.Leu538=) c.1533G>C (p.Leu511=) n.1917G>C | |
X | g.18604589G>T | CA515627885 | CDKL5 | c.1665G>T (p.Leu555=) c.1614G>T (p.Leu538=) c.1533G>T (p.Leu511=) n.1917G>T | |
X | g.18604590G>A | CA412362183 | CDKL5 | c.1666G>A (p.Asp556Asn) c.1615G>A (p.Asp539Asn) c.1534G>A (p.Asp512Asn) n.1918G>A | |
X | g.18604590G>C | CA412362185 | CDKL5 | c.1666G>C (p.Asp556His) c.1615G>C (p.Asp539His) c.1534G>C (p.Asp512His) n.1918G>C | |
X | g.18604590G>T | CA412362187 | CDKL5 | c.1666G>T (p.Asp556Tyr) c.1615G>T (p.Asp539Tyr) c.1534G>T (p.Asp512Tyr) n.1918G>T | |
X | g.18604591A>C | CA412362189 | CDKL5 | c.1667A>C (p.Asp556Ala) c.1616A>C (p.Asp539Ala) c.1535A>C (p.Asp512Ala) n.1919A>C | |
X | g.18604591A>G | CA412362191 | CDKL5 | c.1667A>G (p.Asp556Gly) c.1616A>G (p.Asp539Gly) c.1535A>G (p.Asp512Gly) n.1919A>G | ClinVar dbSNP |
X | g.18604591A>T | CA412362194 | CDKL5 | c.1667A>T (p.Asp556Val) c.1616A>T (p.Asp539Val) c.1535A>T (p.Asp512Val) n.1919A>T | |
X | g.18604592C>A | CA412362197 | CDKL5 | c.1668C>A (p.Asp556Glu) c.1617C>A (p.Asp539Glu) c.1536C>A (p.Asp512Glu) n.1920C>A | |
X | g.18604592C>G | CA412362199 | CDKL5 | c.1668C>G (p.Asp556Glu) c.1617C>G (p.Asp539Glu) c.1536C>G (p.Asp512Glu) n.1920C>G | |
X | g.18604592C>T | CA515627888 | CDKL5 | c.1668C>T (p.Asp556=) c.1617C>T (p.Asp539=) c.1536C>T (p.Asp512=) n.1920C>T | |
X | g.18604593T>A | CA412362203 | CDKL5 | c.1669T>A (p.Ser557Thr) c.1618T>A (p.Ser540Thr) c.1537T>A (p.Ser513Thr) n.1921T>A | |
X | g.18604593T>C | CA412362205 | CDKL5 | c.1669T>C (p.Ser557Pro) c.1618T>C (p.Ser540Pro) c.1537T>C (p.Ser513Pro) n.1921T>C | |
X | g.18604593T>G | CA412362201 | CDKL5 | c.1669T>G (p.Ser557Ala) c.1618T>G (p.Ser540Ala) c.1537T>G (p.Ser513Ala) n.1921T>G | |
X | g.18604594C>A | CA412362207 | CDKL5 | c.1670C>A (p.Ser557Ter) c.1619C>A (p.Ser540Ter) c.1538C>A (p.Ser513Ter) n.1922C>A | |
X | g.18604594C= | CA2417974456 | CDKL5 | c.1670C= (p.Ser557=) c.1619C= (p.Ser540=) c.1538C= (p.Ser513=) n.1922C= | |
X | g.18604594C>G | CA294732 | CDKL5 | c.1670C>G (p.Ser557Ter) c.1619C>G (p.Ser540Ter) c.1538C>G (p.Ser513Ter) n.1922C>G | ClinVar dbSNP |
X | g.18604594C>T | CA412362210 | CDKL5 | c.1670C>T (p.Ser557Leu) c.1619C>T (p.Ser540Leu) c.1538C>T (p.Ser513Leu) n.1922C>T | |
X | g.18604595A= | CA2417974457 | CDKL5 | c.1671A= (p.Ser557=) c.1620A= (p.Ser540=) c.1539A= (p.Ser513=) n.1923A= | |
X | g.18604595A>C | CA326987859 | CDKL5 | c.1671A>C (p.Ser557=) c.1620A>C (p.Ser540=) c.1539A>C (p.Ser513=) n.1923A>C | dbSNP gnomAD v2 gnomAD v4 |
X | g.18604595A>G | CA515627889 | CDKL5 | c.1671A>G (p.Ser557=) c.1620A>G (p.Ser540=) c.1539A>G (p.Ser513=) n.1923A>G | COSMIC |
X | g.18604595A>T | CA515627890 | CDKL5 | c.1671A>T (p.Ser557=) c.1620A>T (p.Ser540=) c.1539A>T (p.Ser513=) n.1923A>T | |
X | g.18604595dup | CA294681 | CDKL5 | c.1671dup (p.Arg558ThrfsTer9) c.1620dup (p.Arg541ThrfsTer9) c.1539dup (p.Arg514ThrfsTer9) n.1923dup | ClinVar dbSNP |
X | g.18604596del | CA2695231309 | CDKL5 | c.1672del (p.Arg558ValfsTer14) c.1621del (p.Arg541ValfsTer14) c.1540del (p.Arg514ValfsTer14) n.1924del | |
X | g.18604596C>A | CA412362212 | CDKL5 | c.1672C>A (p.Arg558Ser) c.1621C>A (p.Arg541Ser) c.1540C>A (p.Arg514Ser) n.1924C>A | gnomAD v4 |
X | g.18604596C= | CA2417974458 | CDKL5 | c.1672C= (p.Arg558=) c.1621C= (p.Arg541=) c.1540C= (p.Arg514=) n.1924C= | |
X | g.18604596C>G | CA412362214 | CDKL5 | c.1672C>G (p.Arg558Gly) c.1621C>G (p.Arg541Gly) c.1540C>G (p.Arg514Gly) n.1924C>G | |
X | g.18604596C>T | CA10360403 | CDKL5 | c.1672C>T (p.Arg558Cys) c.1621C>T (p.Arg541Cys) c.1540C>T (p.Arg514Cys) n.1924C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604597G>A | CA10360404 | CDKL5 | c.1673G>A (p.Arg558His) c.1622G>A (p.Arg541His) c.1541G>A (p.Arg514His) n.1925G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.18604597G>C | CA412362218 | CDKL5 | c.1673G>C (p.Arg558Pro) c.1622G>C (p.Arg541Pro) c.1541G>C (p.Arg514Pro) n.1925G>C | |
X | g.18604597G= | CA2417974459 | CDKL5 | c.1673G= (p.Arg558=) c.1622G= (p.Arg541=) c.1541G= (p.Arg514=) n.1925G= | |
X | g.18604597G>T | CA412362220 | CDKL5 | c.1673G>T (p.Arg558Leu) c.1622G>T (p.Arg541Leu) c.1541G>T (p.Arg514Leu) n.1925G>T | |
X | g.18604598T>A | CA515627891 | CDKL5 | c.1674T>A (p.Arg558=) c.1623T>A (p.Arg541=) c.1542T>A (p.Arg514=) n.1926T>A | |
X | g.18604598T>C | CA515627892 | CDKL5 | c.1674T>C (p.Arg558=) c.1623T>C (p.Arg541=) c.1542T>C (p.Arg514=) n.1926T>C | |
X | g.18604598T>G | CA515627893 | CDKL5 | c.1674T>G (p.Arg558=) c.1623T>G (p.Arg541=) c.1542T>G (p.Arg514=) n.1926T>G | |
X | g.18604599C>A | CA515627894 | CDKL5 | c.1675C>A (p.Arg559=) c.1624C>A (p.Arg542=) c.1543C>A (p.Arg515=) n.1927C>A | |
X | g.18604599C= | CA2417974460 | CDKL5 | c.1675C= (p.Arg559=) c.1624C= (p.Arg542=) c.1543C= (p.Arg515=) n.1927C= | |
X | g.18604599C>G | CA412362223 | CDKL5 | c.1675C>G (p.Arg559Gly) c.1624C>G (p.Arg542Gly) c.1543C>G (p.Arg515Gly) n.1927C>G | |
X | g.18604599C>T | CA171614 | CDKL5 | c.1675C>T (p.Arg559Ter) c.1624C>T (p.Arg542Ter) c.1543C>T (p.Arg515Ter) n.1927C>T | ClinVar dbSNP |
X | g.18604600G>A | CA412362225 | CDKL5 | c.1676G>A (p.Arg559Gln) c.1625G>A (p.Arg542Gln) c.1544G>A (p.Arg515Gln) n.1928G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18604600G>C | CA412362226 | CDKL5 | c.1676G>C (p.Arg559Pro) c.1625G>C (p.Arg542Pro) c.1544G>C (p.Arg515Pro) n.1928G>C | |
X | g.18604600G= | CA2417974461 | CDKL5 | c.1676G= (p.Arg559=) c.1625G= (p.Arg542=) c.1544G= (p.Arg515=) n.1928G= | |
X | g.18604600G>T | CA412362228 | CDKL5 | c.1676G>T (p.Arg559Leu) c.1625G>T (p.Arg542Leu) c.1544G>T (p.Arg515Leu) n.1928G>T | |
X | g.18604601A>C | CA515627895 | CDKL5 | c.1677A>C (p.Arg559=) c.1626A>C (p.Arg542=) c.1545A>C (p.Arg515=) n.1929A>C | |
X | g.18604601A>G | CA515627896 | CDKL5 | c.1677A>G (p.Arg559=) c.1626A>G (p.Arg542=) c.1545A>G (p.Arg515=) n.1929A>G | |
X | g.18604601A>T | CA515627897 | CDKL5 | c.1677A>T (p.Arg559=) c.1626A>T (p.Arg542=) c.1545A>T (p.Arg515=) n.1929A>T | |
X | g.18604602A= | CA2417974462 | CDKL5 | c.1678A= (p.Thr560=) c.1627A= (p.Thr543=) c.1546A= (p.Thr516=) n.1930A= | |
X | g.18604602A>C | CA412362230 | CDKL5 | c.1678A>C (p.Thr560Pro) c.1627A>C (p.Thr543Pro) c.1546A>C (p.Thr516Pro) n.1930A>C | |
X | g.18604602A>G | CA171616 | CDKL5 | c.1678A>G (p.Thr560Ala) c.1627A>G (p.Thr543Ala) c.1546A>G (p.Thr516Ala) n.1930A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18604602A>T | CA412362232 | CDKL5 | c.1678A>T (p.Thr560Ser) c.1627A>T (p.Thr543Ser) c.1546A>T (p.Thr516Ser) n.1930A>T | |
X | g.18604603C>A | CA412362235 | CDKL5 | c.1679C>A (p.Thr560Asn) c.1628C>A (p.Thr543Asn) c.1547C>A (p.Thr516Asn) n.1931C>A | |
X | g.18604603C>G | CA412362237 | CDKL5 | c.1679C>G (p.Thr560Ser) c.1628C>G (p.Thr543Ser) c.1547C>G (p.Thr516Ser) n.1931C>G | |
X | g.18604603C>T | CA412362238 | CDKL5 | c.1679C>T (p.Thr560Ile) c.1628C>T (p.Thr543Ile) c.1547C>T (p.Thr516Ile) n.1931C>T | |
X | g.18604604C>A | CA515627898 | CDKL5 | c.1680C>A (p.Thr560=) c.1629C>A (p.Thr543=) c.1548C>A (p.Thr516=) n.1932C>A | |
X | g.18604604C>G | CA515627899 | CDKL5 | c.1680C>G (p.Thr560=) c.1629C>G (p.Thr543=) c.1548C>G (p.Thr516=) n.1932C>G | |
X | g.18604604C>T | CA515627900 | CDKL5 | c.1680C>T (p.Thr560=) c.1629C>T (p.Thr543=) c.1548C>T (p.Thr516=) n.1932C>T | |
X | g.18604605A>C | CA412362240 | CDKL5 | c.1681A>C (p.Thr561Pro) c.1630A>C (p.Thr544Pro) c.1549A>C (p.Thr517Pro) n.1933A>C | |
X | g.18604605A>G | CA412362242 | CDKL5 | c.1681A>G (p.Thr561Ala) c.1630A>G (p.Thr544Ala) c.1549A>G (p.Thr517Ala) n.1933A>G | |
X | g.18604605A>T | CA412362244 | CDKL5 | c.1681A>T (p.Thr561Ser) c.1630A>T (p.Thr544Ser) c.1549A>T (p.Thr517Ser) n.1933A>T | |
X | g.18604605_18604609delinsACAAC | CA2417974463 | CDKL5 | c.1681_1685delinsACAAC (p.Thr561=) c.1630_1634delinsACAAC (p.Thr544=) c.1549_1553delinsACAAC (p.Thr517=) n.1933_1937delinsACAAC | |
X | g.18604606C>A | CA412362246 | CDKL5 | c.1682C>A (p.Thr561Lys) c.1631C>A (p.Thr544Lys) c.1550C>A (p.Thr517Lys) n.1934C>A | |
X | g.18604606C>G | CA412362248 | CDKL5 | c.1682C>G (p.Thr561Arg) c.1631C>G (p.Thr544Arg) c.1550C>G (p.Thr517Arg) n.1934C>G | |
X | g.18604606C>T | CA412362250 | CDKL5 | c.1682C>T (p.Thr561Ile) c.1631C>T (p.Thr544Ile) c.1550C>T (p.Thr517Ile) n.1934C>T | |
X | g.18604608_18604611del | CA645373291 | CDKL5 | c.1684_1687del (p.Thr562AspfsTer9) c.1633_1636del (p.Thr545AspfsTer9) c.1552_1555del (p.Thr518AspfsTer9) n.1936_1939del | ClinVar dbSNP |
X | g.18604607A>C | CA515627901 | CDKL5 | c.1683A>C (p.Thr561=) c.1632A>C (p.Thr544=) c.1551A>C (p.Thr517=) n.1935A>C | |
X | g.18604607A>G | CA515627903 | CDKL5 | c.1683A>G (p.Thr561=) c.1632A>G (p.Thr544=) c.1551A>G (p.Thr517=) n.1935A>G | |
X | g.18604607A>T | CA515627902 | CDKL5 | c.1683A>T (p.Thr561=) c.1632A>T (p.Thr544=) c.1551A>T (p.Thr517=) n.1935A>T | |
X | g.18604608A= | CA2417974464 | CDKL5 | c.1684A= (p.Thr562=) c.1633A= (p.Thr545=) c.1552A= (p.Thr518=) n.1936A= | |
X | g.18604608A>C | CA412362251 | CDKL5 | c.1684A>C (p.Thr562Pro) c.1633A>C (p.Thr545Pro) c.1552A>C (p.Thr518Pro) n.1936A>C | |
X | g.18604608A>G | CA10360405 | CDKL5 | c.1684A>G (p.Thr562Ala) c.1633A>G (p.Thr545Ala) c.1552A>G (p.Thr518Ala) n.1936A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604608A>T | CA412362254 | CDKL5 | c.1684A>T (p.Thr562Ser) c.1633A>T (p.Thr545Ser) c.1552A>T (p.Thr518Ser) n.1936A>T | |
X | g.18604609C>A | CA412362255 | CDKL5 | c.1685C>A (p.Thr562Asn) c.1634C>A (p.Thr545Asn) c.1553C>A (p.Thr518Asn) n.1937C>A | |
X | g.18604609C>G | CA412362258 | CDKL5 | c.1685C>G (p.Thr562Ser) c.1634C>G (p.Thr545Ser) c.1553C>G (p.Thr518Ser) n.1937C>G | |
X | g.18604609C>T | CA412362256 | CDKL5 | c.1685C>T (p.Thr562Ile) c.1634C>T (p.Thr545Ile) c.1553C>T (p.Thr518Ile) n.1937C>T | |
X | g.18604610del | CA2573158470 | CDKL5 | c.1686del (p.Arg563AspfsTer9) c.1635del (p.Arg546AspfsTer9) c.1554del (p.Arg519AspfsTer9) n.1938del | ClinVar dbSNP |
X | g.18604610C>A | CA515627904 | CDKL5 | c.1686C>A (p.Thr562=) c.1635C>A (p.Thr545=) c.1554C>A (p.Thr518=) n.1938C>A | |
X | g.18604610C>G | CA515627905 | CDKL5 | c.1686C>G (p.Thr562=) c.1635C>G (p.Thr545=) c.1554C>G (p.Thr518=) n.1938C>G | |
X | g.18604610C>T | CA515627906 | CDKL5 | c.1686C>T (p.Thr562=) c.1635C>T (p.Thr545=) c.1554C>T (p.Thr518=) n.1938C>T | |
X | g.18604610_18604611insTA | CA2573158471 | CDKL5 | c.1686_1687insTA (p.Arg563Ter) c.1635_1636insTA (p.Arg546Ter) c.1554_1555insTA (p.Arg519Ter) n.1938_1939insTA | dbSNP |
X | g.18604611A>C | CA515627907 | CDKL5 | c.1687A>C (p.Arg563=) c.1636A>C (p.Arg546=) c.1555A>C (p.Arg519=) n.1939A>C | |
X | g.18604611A>G | CA412362260 | CDKL5 | c.1687A>G (p.Arg563Gly) c.1636A>G (p.Arg546Gly) c.1555A>G (p.Arg519Gly) n.1939A>G | |
X | g.18604611A>T | CA412362261 | CDKL5 | c.1687A>T (p.Arg563Ter) c.1636A>T (p.Arg546Ter) c.1555A>T (p.Arg519Ter) n.1939A>T | |
X | g.18604612G>A | CA412362263 | CDKL5 | c.1688G>A (p.Arg563Lys) c.1637G>A (p.Arg546Lys) c.1556G>A (p.Arg519Lys) n.1940G>A | |
X | g.18604612G>C | CA412362264 | CDKL5 | c.1688G>C (p.Arg563Thr) c.1637G>C (p.Arg546Thr) c.1556G>C (p.Arg519Thr) n.1940G>C | |
X | g.18604612G>T | CA412362265 | CDKL5 | c.1688G>T (p.Arg563Ile) c.1637G>T (p.Arg546Ile) c.1556G>T (p.Arg519Ile) n.1940G>T | |
X | g.18604613A>C | CA412362267 | CDKL5 | c.1689A>C (p.Arg563Ser) c.1638A>C (p.Arg546Ser) c.1557A>C (p.Arg519Ser) n.1941A>C | ClinVar |
X | g.18604613A>G | CA515627908 | CDKL5 | c.1689A>G (p.Arg563=) c.1638A>G (p.Arg546=) c.1557A>G (p.Arg519=) n.1941A>G | gnomAD v4 |
X | g.18604613A>T | CA412362268 | CDKL5 | c.1689A>T (p.Arg563Ser) c.1638A>T (p.Arg546Ser) c.1557A>T (p.Arg519Ser) n.1941A>T | ClinVar dbSNP |
X | g.18604614C>A | CA412362271 | CDKL5 | c.1690C>A (p.His564Asn) c.1639C>A (p.His547Asn) c.1558C>A (p.His520Asn) n.1942C>A | |
X | g.18604614C>G | CA412362272 | CDKL5 | c.1690C>G (p.His564Asp) c.1639C>G (p.His547Asp) c.1558C>G (p.His520Asp) n.1942C>G | gnomAD v4 |
X | g.18604614C>T | CA412362274 | CDKL5 | c.1690C>T (p.His564Tyr) c.1639C>T (p.His547Tyr) c.1558C>T (p.His520Tyr) n.1942C>T | |
X | g.18604615A= | CA2417974465 | CDKL5 | c.1691A= (p.His564=) c.1640A= (p.His547=) c.1559A= (p.His520=) n.1943A= | |
X | g.18604615A>C | CA412362277 | CDKL5 | c.1691A>C (p.His564Pro) c.1640A>C (p.His547Pro) c.1559A>C (p.His520Pro) n.1943A>C | |
X | g.18604615A>G | CA412362278 | CDKL5 | c.1691A>G (p.His564Arg) c.1640A>G (p.His547Arg) c.1559A>G (p.His520Arg) n.1943A>G | ClinVar dbSNP |
X | g.18604615A>T | CA412362280 | CDKL5 | c.1691A>T (p.His564Leu) c.1640A>T (p.His547Leu) c.1559A>T (p.His520Leu) n.1943A>T | |
X | g.18604616T>A | CA412362286 | CDKL5 | c.1692T>A (p.His564Gln) c.1641T>A (p.His547Gln) c.1560T>A (p.His520Gln) n.1944T>A | |
X | g.18604616T>C | CA10360406 | CDKL5 | c.1692T>C (p.His564=) c.1641T>C (p.His547=) c.1560T>C (p.His520=) n.1944T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604616T>G | CA412362282 | CDKL5 | c.1692T>G (p.His564Gln) c.1641T>G (p.His547Gln) c.1560T>G (p.His520Gln) n.1944T>G | |
X | g.18604616T= | CA2417974466 | CDKL5 | c.1692T= (p.His564=) c.1641T= (p.His547=) c.1560T= (p.His520=) n.1944T= | |
X | g.18604617T>A | CA412362288 | CDKL5 | c.1693T>A (p.Ser565Thr) c.1642T>A (p.Ser548Thr) c.1561T>A (p.Ser521Thr) n.1945T>A | |
X | g.18604617T>C | CA412362291 | CDKL5 | c.1693T>C (p.Ser565Pro) c.1642T>C (p.Ser548Pro) c.1561T>C (p.Ser521Pro) n.1945T>C | |
X | g.18604617T>G | CA412362292 | CDKL5 | c.1693T>G (p.Ser565Ala) c.1642T>G (p.Ser548Ala) c.1561T>G (p.Ser521Ala) n.1945T>G | |
X | g.18604618C>A | CA412362293 | CDKL5 | c.1694C>A (p.Ser565Tyr) c.1643C>A (p.Ser548Tyr) c.1562C>A (p.Ser521Tyr) n.1946C>A | |
X | g.18604618C>G | CA412362295 | CDKL5 | c.1694C>G (p.Ser565Cys) c.1643C>G (p.Ser548Cys) c.1562C>G (p.Ser521Cys) n.1946C>G | |
X | g.18604618C>T | CA412362297 | CDKL5 | c.1694C>T (p.Ser565Phe) c.1643C>T (p.Ser548Phe) c.1562C>T (p.Ser521Phe) n.1946C>T | |
X | g.18604619T>A | CA515627909 | CDKL5 | c.1695T>A (p.Ser565=) c.1644T>A (p.Ser548=) c.1563T>A (p.Ser521=) n.1947T>A | |
X | g.18604619T>C | CA515627910 | CDKL5 | c.1695T>C (p.Ser565=) c.1644T>C (p.Ser548=) c.1563T>C (p.Ser521=) n.1947T>C | |
X | g.18604619T>G | CA515627911 | CDKL5 | c.1695T>G (p.Ser565=) c.1644T>G (p.Ser548=) c.1563T>G (p.Ser521=) n.1947T>G | |
X | g.18604619dup | CA2695231312 | CDKL5 | c.1695dup (p.Lys566Ter) c.1644dup (p.Lys549Ter) c.1563dup (p.Lys522Ter) n.1947dup | |
X | g.18604620A>C | CA412362299 | CDKL5 | c.1696A>C (p.Lys566Gln) c.1645A>C (p.Lys549Gln) c.1564A>C (p.Lys522Gln) n.1948A>C | |
X | g.18604620A>G | CA412362301 | CDKL5 | c.1696A>G (p.Lys566Glu) c.1645A>G (p.Lys549Glu) c.1564A>G (p.Lys522Glu) n.1948A>G | |
X | g.18604620A>T | CA412362303 | CDKL5 | c.1696A>T (p.Lys566Ter) c.1645A>T (p.Lys549Ter) c.1564A>T (p.Lys522Ter) n.1948A>T | |
X | g.18604621A>C | CA412362304 | CDKL5 | c.1697A>C (p.Lys566Thr) c.1646A>C (p.Lys549Thr) c.1565A>C (p.Lys522Thr) n.1949A>C | |
X | g.18604621A>G | CA412362306 | CDKL5 | c.1697A>G (p.Lys566Arg) c.1646A>G (p.Lys549Arg) c.1565A>G (p.Lys522Arg) n.1949A>G | |
X | g.18604621A>T | CA412362308 | CDKL5 | c.1697A>T (p.Lys566Met) c.1646A>T (p.Lys549Met) c.1565A>T (p.Lys522Met) n.1949A>T | |
X | g.18604622G>A | CA515627912 | CDKL5 | c.1698G>A (p.Lys566=) c.1647G>A (p.Lys549=) c.1566G>A (p.Lys522=) n.1950G>A | |
X | g.18604622G>C | CA412362310 | CDKL5 | c.1698G>C (p.Lys566Asn) c.1647G>C (p.Lys549Asn) c.1566G>C (p.Lys522Asn) n.1950G>C | |
X | g.18604622G>T | CA412362312 | CDKL5 | c.1698G>T (p.Lys566Asn) c.1647G>T (p.Lys549Asn) c.1566G>T (p.Lys522Asn) n.1950G>T | |
X | g.18604623A>C | CA412362317 | CDKL5 | c.1699A>C (p.Thr567Pro) c.1648A>C (p.Thr550Pro) c.1567A>C (p.Thr523Pro) n.1951A>C | |
X | g.18604623A>G | CA412362316 | CDKL5 | c.1699A>G (p.Thr567Ala) c.1648A>G (p.Thr550Ala) c.1567A>G (p.Thr523Ala) n.1951A>G | |
X | g.18604623A>T | CA412362314 | CDKL5 | c.1699A>T (p.Thr567Ser) c.1648A>T (p.Thr550Ser) c.1567A>T (p.Thr523Ser) n.1951A>T | |
X | g.18604624C>A | CA412362320 | CDKL5 | c.1700C>A (p.Thr567Lys) c.1649C>A (p.Thr550Lys) c.1568C>A (p.Thr523Lys) n.1952C>A | gnomAD v4 |
X | g.18604624C= | CA2417974467 | CDKL5 | c.1700C= (p.Thr567=) c.1649C= (p.Thr550=) c.1568C= (p.Thr523=) n.1952C= | |
X | g.18604624C>G | CA412362322 | CDKL5 | c.1700C>G (p.Thr567Arg) c.1649C>G (p.Thr550Arg) c.1568C>G (p.Thr523Arg) n.1952C>G | |
X | g.18604624C>T | CA412362323 | CDKL5 | c.1700C>T (p.Thr567Met) c.1649C>T (p.Thr550Met) c.1568C>T (p.Thr523Met) n.1952C>T | ClinVar dbSNP gnomAD v4 |
X | g.18604625G>A | CA10360407 | CDKL5 | c.1701G>A (p.Thr567=) c.1650G>A (p.Thr550=) c.1569G>A (p.Thr523=) n.1953G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604625G>C | CA515627913 | CDKL5 | c.1701G>C (p.Thr567=) c.1650G>C (p.Thr550=) c.1569G>C (p.Thr523=) n.1953G>C | |
X | g.18604625G= | CA2417974468 | CDKL5 | c.1701G= (p.Thr567=) c.1650G= (p.Thr550=) c.1569G= (p.Thr523=) n.1953G= | |
X | g.18604625G>T | CA515627914 | CDKL5 | c.1701G>T (p.Thr567=) c.1650G>T (p.Thr550=) c.1569G>T (p.Thr523=) n.1953G>T | ClinVar dbSNP |
X | g.18604626A>C | CA412362327 | CDKL5 | c.1702A>C (p.Met568Leu) c.1651A>C (p.Met551Leu) c.1570A>C (p.Met524Leu) n.1954A>C | |
X | g.18604626A>G | CA412362328 | CDKL5 | c.1702A>G (p.Met568Val) c.1651A>G (p.Met551Val) c.1570A>G (p.Met524Val) n.1954A>G | |
X | g.18604626A>T | CA412362330 | CDKL5 | c.1702A>T (p.Met568Leu) c.1651A>T (p.Met551Leu) c.1570A>T (p.Met524Leu) n.1954A>T | |
X | g.18604627T>A | CA412362332 | CDKL5 | c.1703T>A (p.Met568Lys) c.1652T>A (p.Met551Lys) c.1571T>A (p.Met524Lys) n.1955T>A | |
X | g.18604627T>C | CA412362334 | CDKL5 | c.1703T>C (p.Met568Thr) c.1652T>C (p.Met551Thr) c.1571T>C (p.Met524Thr) n.1955T>C | gnomAD v4 |
X | g.18604627T>G | CA412362336 | CDKL5 | c.1703T>G (p.Met568Arg) c.1652T>G (p.Met551Arg) c.1571T>G (p.Met524Arg) n.1955T>G | |
X | g.18604628G>A | CA412362338 | CDKL5 | c.1704G>A (p.Met568Ile) c.1653G>A (p.Met551Ile) c.1572G>A (p.Met524Ile) n.1956G>A | dbSNP |
X | g.18604628G>C | CA412362340 | CDKL5 | c.1704G>C (p.Met568Ile) c.1653G>C (p.Met551Ile) c.1572G>C (p.Met524Ile) n.1956G>C | |
X | g.18604628G= | CA2417974469 | CDKL5 | c.1704G= (p.Met568=) c.1653G= (p.Met551=) c.1572G= (p.Met524=) n.1956G= | |
X | g.18604628G>T | CA412362342 | CDKL5 | c.1704G>T (p.Met568Ile) c.1653G>T (p.Met551Ile) c.1572G>T (p.Met524Ile) n.1956G>T | |
X | g.18604629G>A | CA412362348 | CDKL5 | c.1705G>A (p.Glu569Lys) c.1654G>A (p.Glu552Lys) c.1573G>A (p.Glu525Lys) n.1957G>A | |
X | g.18604629G>C | CA412362347 | CDKL5 | c.1705G>C (p.Glu569Gln) c.1654G>C (p.Glu552Gln) c.1573G>C (p.Glu525Gln) n.1957G>C | |
X | g.18604629G>T | CA412362344 | CDKL5 | c.1705G>T (p.Glu569Ter) c.1654G>T (p.Glu552Ter) c.1573G>T (p.Glu525Ter) n.1957G>T | |
X | g.18604630A>C | CA412362350 | CDKL5 | c.1706A>C (p.Glu569Ala) c.1655A>C (p.Glu552Ala) c.1574A>C (p.Glu525Ala) n.1958A>C | |
X | g.18604630A>G | CA412362351 | CDKL5 | c.1706A>G (p.Glu569Gly) c.1655A>G (p.Glu552Gly) c.1574A>G (p.Glu525Gly) n.1958A>G | |
X | g.18604630A>T | CA412362352 | CDKL5 | c.1706A>T (p.Glu569Val) c.1655A>T (p.Glu552Val) c.1574A>T (p.Glu525Val) n.1958A>T | |
X | g.18604631G>A | CA515627915 | CDKL5 | c.1707G>A (p.Glu569=) c.1656G>A (p.Glu552=) c.1575G>A (p.Glu525=) n.1959G>A | |
X | g.18604631G>C | CA412362354 | CDKL5 | c.1707G>C (p.Glu569Asp) c.1656G>C (p.Glu552Asp) c.1575G>C (p.Glu525Asp) n.1959G>C | |
X | g.18604631G>T | CA412362355 | CDKL5 | c.1707G>T (p.Glu569Asp) c.1656G>T (p.Glu552Asp) c.1575G>T (p.Glu525Asp) n.1959G>T | |
X | g.18604632G>A | CA412362357 | CDKL5 | c.1708G>A (p.Glu570Lys) c.1657G>A (p.Glu553Lys) c.1576G>A (p.Glu526Lys) n.1960G>A | |
X | g.18604632G>C | CA412362359 | CDKL5 | c.1708G>C (p.Glu570Gln) c.1657G>C (p.Glu553Gln) c.1576G>C (p.Glu526Gln) n.1960G>C | |
X | g.18604632G= | CA2417974470 | CDKL5 | c.1708G= (p.Glu570=) c.1657G= (p.Glu553=) c.1576G= (p.Glu526=) n.1960G= | |
X | g.18604632G>T | CA170452 | CDKL5 | c.1708G>T (p.Glu570Ter) c.1657G>T (p.Glu553Ter) c.1576G>T (p.Glu526Ter) n.1960G>T | ClinVar dbSNP |
X | g.18604633A>C | CA412362363 | CDKL5 | c.1709A>C (p.Glu570Ala) c.1658A>C (p.Glu553Ala) c.1577A>C (p.Glu526Ala) n.1961A>C | |
X | g.18604633A>G | CA412362364 | CDKL5 | c.1709A>G (p.Glu570Gly) c.1658A>G (p.Glu553Gly) c.1577A>G (p.Glu526Gly) n.1961A>G | |
X | g.18604633A>T | CA412362365 | CDKL5 | c.1709A>T (p.Glu570Val) c.1658A>T (p.Glu553Val) c.1577A>T (p.Glu526Val) n.1961A>T | |
X | g.18604634A>C | CA412362367 | CDKL5 | c.1710A>C (p.Glu570Asp) c.1659A>C (p.Glu553Asp) c.1578A>C (p.Glu526Asp) n.1962A>C | |
X | g.18604634A>G | CA515627916 | CDKL5 | c.1710A>G (p.Glu570=) c.1659A>G (p.Glu553=) c.1578A>G (p.Glu526=) n.1962A>G | |
X | g.18604634A>T | CA412362369 | CDKL5 | c.1710A>T (p.Glu570Asp) c.1659A>T (p.Glu553Asp) c.1578A>T (p.Glu526Asp) n.1962A>T | |
X | g.18604635T>A | CA412362375 | CDKL5 | c.1711T>A (p.Leu571Met) c.1660T>A (p.Leu554Met) c.1579T>A (p.Leu527Met) n.1963T>A | |
X | g.18604635T>C | CA10360408 | CDKL5 | c.1711T>C (p.Leu571=) c.1660T>C (p.Leu554=) c.1579T>C (p.Leu527=) n.1963T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18604635T>G | CA412362373 | CDKL5 | c.1711T>G (p.Leu571Val) c.1660T>G (p.Leu554Val) c.1579T>G (p.Leu527Val) n.1963T>G | |
X | g.18604635T= | CA2417974471 | CDKL5 | c.1711T= (p.Leu571=) c.1660T= (p.Leu554=) c.1579T= (p.Leu527=) n.1963T= |