| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63407326T>A | CA409639394 | KCNQ2 | c.1991A>T (p.Gln664Leu) c.1937A>T (p.Gln646Leu) c.1334A>T (p.Gln445Leu) n.94A>T c.1844A>T (p.Gln615Leu) c.1505A>T (p.Gln502Leu) c.1853A>T (p.Gln618Leu) c.1961A>T (p.Gln654Leu) c.1925A>T (p.Gln642Leu) c.1883A>T (p.Gln628Leu) c.1679+6124A>T (n.1679+6124A>T) c.1979A>T (p.Gln660Leu) c.2045A>T (p.Gln682Leu) c.2042A>T (p.Gln681Leu) c.2015A>T (p.Gln672Leu) c.1934A>T (p.Gln645Leu) c.1919A>T (p.Gln640Leu) c.1526A>T (p.Gln509Leu) c.1988A>T (p.Gln663Leu) c.1922A>T (p.Gln641Leu) c.1880A>T (p.Gln627Leu) c.953A>T (p.Gln318Leu) | |
| 20 | g.63407326T>C | CA315507 | KCNQ2 | c.1991A>G (p.Gln664Arg) c.1937A>G (p.Gln646Arg) c.1334A>G (p.Gln445Arg) n.94A>G c.1844A>G (p.Gln615Arg) c.1505A>G (p.Gln502Arg) c.1853A>G (p.Gln618Arg) c.1961A>G (p.Gln654Arg) c.1925A>G (p.Gln642Arg) c.1883A>G (p.Gln628Arg) c.1679+6124A>G (n.1679+6124A>G) c.1979A>G (p.Gln660Arg) c.2045A>G (p.Gln682Arg) c.2042A>G (p.Gln681Arg) c.2015A>G (p.Gln672Arg) c.1934A>G (p.Gln645Arg) c.1919A>G (p.Gln640Arg) c.1526A>G (p.Gln509Arg) c.1988A>G (p.Gln663Arg) c.1922A>G (p.Gln641Arg) c.1880A>G (p.Gln627Arg) c.953A>G (p.Gln318Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.63407326T>G | CA409639397 | KCNQ2 | c.1991A>C (p.Gln664Pro) c.1937A>C (p.Gln646Pro) c.1334A>C (p.Gln445Pro) n.94A>C c.1844A>C (p.Gln615Pro) c.1505A>C (p.Gln502Pro) c.1853A>C (p.Gln618Pro) c.1961A>C (p.Gln654Pro) c.1925A>C (p.Gln642Pro) c.1883A>C (p.Gln628Pro) c.1679+6124A>C (n.1679+6124A>C) c.1979A>C (p.Gln660Pro) c.2045A>C (p.Gln682Pro) c.2042A>C (p.Gln681Pro) c.2015A>C (p.Gln672Pro) c.1934A>C (p.Gln645Pro) c.1919A>C (p.Gln640Pro) c.1526A>C (p.Gln509Pro) c.1988A>C (p.Gln663Pro) c.1922A>C (p.Gln641Pro) c.1880A>C (p.Gln627Pro) c.953A>C (p.Gln318Pro) | gnomAD v4 |
| 20 | g.63407326T= | CA2374774549 | KCNQ2 | c.1991A= (p.Gln664=) c.1937A= (p.Gln646=) c.1334A= (p.Gln445=) n.94A= c.1844A= (p.Gln615=) c.1505A= (p.Gln502=) c.1853A= (p.Gln618=) c.1961A= (p.Gln654=) c.1925A= (p.Gln642=) c.1883A= (p.Gln628=) c.1679+6124A= (n.1679+6124A=) c.1979A= (p.Gln660=) c.2045A= (p.Gln682=) c.2042A= (p.Gln681=) c.2015A= (p.Gln672=) c.1934A= (p.Gln645=) c.1919A= (p.Gln640=) c.1526A= (p.Gln509=) c.1988A= (p.Gln663=) c.1922A= (p.Gln641=) c.1880A= (p.Gln627=) c.953A= (p.Gln318=) | |
| 20 | g.63407327G>A | CA409639404 | KCNQ2 | c.1990C>T (p.Gln664Ter) c.1936C>T (p.Gln646Ter) c.1333C>T (p.Gln445Ter) n.93C>T c.1843C>T (p.Gln615Ter) c.1504C>T (p.Gln502Ter) c.1852C>T (p.Gln618Ter) c.1960C>T (p.Gln654Ter) c.1924C>T (p.Gln642Ter) c.1882C>T (p.Gln628Ter) c.1679+6123C>T (n.1679+6123C>T) c.1978C>T (p.Gln660Ter) c.2044C>T (p.Gln682Ter) c.2041C>T (p.Gln681Ter) c.2014C>T (p.Gln672Ter) c.1933C>T (p.Gln645Ter) c.1918C>T (p.Gln640Ter) c.1525C>T (p.Gln509Ter) c.1987C>T (p.Gln663Ter) c.1921C>T (p.Gln641Ter) c.1879C>T (p.Gln627Ter) c.952C>T (p.Gln318Ter) | |
| 20 | g.63407327G>C | CA409639402 | KCNQ2 | c.1990C>G (p.Gln664Glu) c.1936C>G (p.Gln646Glu) c.1333C>G (p.Gln445Glu) n.93C>G c.1843C>G (p.Gln615Glu) c.1504C>G (p.Gln502Glu) c.1852C>G (p.Gln618Glu) c.1960C>G (p.Gln654Glu) c.1924C>G (p.Gln642Glu) c.1882C>G (p.Gln628Glu) c.1679+6123C>G (n.1679+6123C>G) c.1978C>G (p.Gln660Glu) c.2044C>G (p.Gln682Glu) c.2041C>G (p.Gln681Glu) c.2014C>G (p.Gln672Glu) c.1933C>G (p.Gln645Glu) c.1918C>G (p.Gln640Glu) c.1525C>G (p.Gln509Glu) c.1987C>G (p.Gln663Glu) c.1921C>G (p.Gln641Glu) c.1879C>G (p.Gln627Glu) c.952C>G (p.Gln318Glu) | |
| 20 | g.63407327G>T | CA409639400 | KCNQ2 | c.1990C>A (p.Gln664Lys) c.1936C>A (p.Gln646Lys) c.1333C>A (p.Gln445Lys) n.93C>A c.1843C>A (p.Gln615Lys) c.1504C>A (p.Gln502Lys) c.1852C>A (p.Gln618Lys) c.1960C>A (p.Gln654Lys) c.1924C>A (p.Gln642Lys) c.1882C>A (p.Gln628Lys) c.1679+6123C>A (n.1679+6123C>A) c.1978C>A (p.Gln660Lys) c.2044C>A (p.Gln682Lys) c.2041C>A (p.Gln681Lys) c.2014C>A (p.Gln672Lys) c.1933C>A (p.Gln645Lys) c.1918C>A (p.Gln640Lys) c.1525C>A (p.Gln509Lys) c.1987C>A (p.Gln663Lys) c.1921C>A (p.Gln641Lys) c.1879C>A (p.Gln627Lys) c.952C>A (p.Gln318Lys) | gnomAD v4 |
| 20 | g.63407328C>A | CA409639406 | KCNQ2 | c.1989G>T (p.Met663Ile) c.1935G>T (p.Met645Ile) c.1332G>T (p.Met444Ile) n.92G>T c.1842G>T (p.Met614Ile) c.1503G>T (p.Met501Ile) c.1851G>T (p.Met617Ile) c.1959G>T (p.Met653Ile) c.1923G>T (p.Met641Ile) c.1881G>T (p.Met627Ile) c.1679+6122G>T (n.1679+6122G>T) c.1977G>T (p.Met659Ile) c.2043G>T (p.Met681Ile) c.2040G>T (p.Met680Ile) c.2013G>T (p.Met671Ile) c.1932G>T (p.Met644Ile) c.1917G>T (p.Met639Ile) c.1524G>T (p.Met508Ile) c.1986G>T (p.Met662Ile) c.1920G>T (p.Met640Ile) c.1878G>T (p.Met626Ile) c.951G>T (p.Met317Ile) | |
| 20 | g.63407328C= | CA2374774550 | KCNQ2 | c.1989G= (p.Met663=) c.1935G= (p.Met645=) c.1332G= (p.Met444=) n.92G= c.1842G= (p.Met614=) c.1503G= (p.Met501=) c.1851G= (p.Met617=) c.1959G= (p.Met653=) c.1923G= (p.Met641=) c.1881G= (p.Met627=) c.1679+6122G= (n.1679+6122G=) c.1977G= (p.Met659=) c.2043G= (p.Met681=) c.2040G= (p.Met680=) c.2013G= (p.Met671=) c.1932G= (p.Met644=) c.1917G= (p.Met639=) c.1524G= (p.Met508=) c.1986G= (p.Met662=) c.1920G= (p.Met640=) c.1878G= (p.Met626=) c.951G= (p.Met317=) | |
| 20 | g.63407328C>G | CA409639408 | KCNQ2 | c.1989G>C (p.Met663Ile) c.1935G>C (p.Met645Ile) c.1332G>C (p.Met444Ile) n.92G>C c.1842G>C (p.Met614Ile) c.1503G>C (p.Met501Ile) c.1851G>C (p.Met617Ile) c.1959G>C (p.Met653Ile) c.1923G>C (p.Met641Ile) c.1881G>C (p.Met627Ile) c.1679+6122G>C (n.1679+6122G>C) c.1977G>C (p.Met659Ile) c.2043G>C (p.Met681Ile) c.2040G>C (p.Met680Ile) c.2013G>C (p.Met671Ile) c.1932G>C (p.Met644Ile) c.1917G>C (p.Met639Ile) c.1524G>C (p.Met508Ile) c.1986G>C (p.Met662Ile) c.1920G>C (p.Met640Ile) c.1878G>C (p.Met626Ile) c.951G>C (p.Met317Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63407328C>T | CA409639409 | KCNQ2 | c.1989G>A (p.Met663Ile) c.1935G>A (p.Met645Ile) c.1332G>A (p.Met444Ile) n.92G>A c.1842G>A (p.Met614Ile) c.1503G>A (p.Met501Ile) c.1851G>A (p.Met617Ile) c.1959G>A (p.Met653Ile) c.1923G>A (p.Met641Ile) c.1881G>A (p.Met627Ile) c.1679+6122G>A (n.1679+6122G>A) c.1977G>A (p.Met659Ile) c.2043G>A (p.Met681Ile) c.2040G>A (p.Met680Ile) c.2013G>A (p.Met671Ile) c.1932G>A (p.Met644Ile) c.1917G>A (p.Met639Ile) c.1524G>A (p.Met508Ile) c.1986G>A (p.Met662Ile) c.1920G>A (p.Met640Ile) c.1878G>A (p.Met626Ile) c.951G>A (p.Met317Ile) | |
| 20 | g.63407328dup | CA2739277258 | KCNQ2 | c.1989dup (p.Gln664AlafsTer?) c.1935dup (p.Gln646AlafsTer?) c.1332dup (p.Gln445AlafsTer?) n.92dup c.1842dup (p.Gln615AlafsTer?) c.1503dup (p.Gln502AlafsTer?) c.1851dup (p.Gln618AlafsTer?) c.1959dup (p.Gln654AlafsTer?) c.1923dup (p.Gln642AlafsTer?) c.1881dup (p.Gln628AlafsTer?) c.1679+6122dup (n.1679+6122dup) c.1977dup (p.Gln660AlafsTer?) c.2043dup (p.Gln682AlafsTer?) c.2040dup (p.Gln681AlafsTer?) c.2013dup (p.Gln672AlafsTer?) c.1932dup (p.Gln645AlafsTer?) c.1917dup (p.Gln640AlafsTer?) c.1524dup (p.Gln509AlafsTer?) c.1986dup (p.Gln663AlafsTer?) c.1920dup (p.Gln641AlafsTer?) c.1878dup (p.Gln627AlafsTer?) c.951dup (p.Gln318AlafsTer?) | ClinVar |
| 20 | g.63407329A= | CA2374774551 | KCNQ2 | c.1988T= (p.Met663=) c.1934T= (p.Met645=) c.1331T= (p.Met444=) n.91T= c.1841T= (p.Met614=) c.1502T= (p.Met501=) c.1850T= (p.Met617=) c.1958T= (p.Met653=) c.1922T= (p.Met641=) c.1880T= (p.Met627=) c.1679+6121T= (n.1679+6121T=) c.1976T= (p.Met659=) c.2042T= (p.Met681=) c.2039T= (p.Met680=) c.2012T= (p.Met671=) c.1931T= (p.Met644=) c.1916T= (p.Met639=) c.1523T= (p.Met508=) c.1985T= (p.Met662=) c.1919T= (p.Met640=) c.1877T= (p.Met626=) c.950T= (p.Met317=) | |
| 20 | g.63407329A>C | CA409639411 | KCNQ2 | c.1988T>G (p.Met663Arg) c.1934T>G (p.Met645Arg) c.1331T>G (p.Met444Arg) n.91T>G c.1841T>G (p.Met614Arg) c.1502T>G (p.Met501Arg) c.1850T>G (p.Met617Arg) c.1958T>G (p.Met653Arg) c.1922T>G (p.Met641Arg) c.1880T>G (p.Met627Arg) c.1679+6121T>G (n.1679+6121T>G) c.1976T>G (p.Met659Arg) c.2042T>G (p.Met681Arg) c.2039T>G (p.Met680Arg) c.2012T>G (p.Met671Arg) c.1931T>G (p.Met644Arg) c.1916T>G (p.Met639Arg) c.1523T>G (p.Met508Arg) c.1985T>G (p.Met662Arg) c.1919T>G (p.Met640Arg) c.1877T>G (p.Met626Arg) c.950T>G (p.Met317Arg) | |
| 20 | g.63407329A>G | CA409639412 | KCNQ2 | c.1988T>C (p.Met663Thr) c.1934T>C (p.Met645Thr) c.1331T>C (p.Met444Thr) n.91T>C c.1841T>C (p.Met614Thr) c.1502T>C (p.Met501Thr) c.1850T>C (p.Met617Thr) c.1958T>C (p.Met653Thr) c.1922T>C (p.Met641Thr) c.1880T>C (p.Met627Thr) c.1679+6121T>C (n.1679+6121T>C) c.1976T>C (p.Met659Thr) c.2042T>C (p.Met681Thr) c.2039T>C (p.Met680Thr) c.2012T>C (p.Met671Thr) c.1931T>C (p.Met644Thr) c.1916T>C (p.Met639Thr) c.1523T>C (p.Met508Thr) c.1985T>C (p.Met662Thr) c.1919T>C (p.Met640Thr) c.1877T>C (p.Met626Thr) c.950T>C (p.Met317Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63407329A>T | CA409639414 | KCNQ2 | c.1988T>A (p.Met663Lys) c.1934T>A (p.Met645Lys) c.1331T>A (p.Met444Lys) n.91T>A c.1841T>A (p.Met614Lys) c.1502T>A (p.Met501Lys) c.1850T>A (p.Met617Lys) c.1958T>A (p.Met653Lys) c.1922T>A (p.Met641Lys) c.1880T>A (p.Met627Lys) c.1679+6121T>A (n.1679+6121T>A) c.1976T>A (p.Met659Lys) c.2042T>A (p.Met681Lys) c.2039T>A (p.Met680Lys) c.2012T>A (p.Met671Lys) c.1931T>A (p.Met644Lys) c.1916T>A (p.Met639Lys) c.1523T>A (p.Met508Lys) c.1985T>A (p.Met662Lys) c.1919T>A (p.Met640Lys) c.1877T>A (p.Met626Lys) c.950T>A (p.Met317Lys) | |
| 20 | g.63407330T>A | CA409639416 | KCNQ2 | c.1987A>T (p.Met663Leu) c.1933A>T (p.Met645Leu) c.1330A>T (p.Met444Leu) n.90A>T c.1840A>T (p.Met614Leu) c.1501A>T (p.Met501Leu) c.1849A>T (p.Met617Leu) c.1957A>T (p.Met653Leu) c.1921A>T (p.Met641Leu) c.1879A>T (p.Met627Leu) c.1679+6120A>T (n.1679+6120A>T) c.1975A>T (p.Met659Leu) c.2041A>T (p.Met681Leu) c.2038A>T (p.Met680Leu) c.2011A>T (p.Met671Leu) c.1930A>T (p.Met644Leu) c.1915A>T (p.Met639Leu) c.1522A>T (p.Met508Leu) c.1984A>T (p.Met662Leu) c.1918A>T (p.Met640Leu) c.1876A>T (p.Met626Leu) c.949A>T (p.Met317Leu) | |
| 20 | g.63407330T>C | CA9958197 | KCNQ2 | c.1987A>G (p.Met663Val) c.1933A>G (p.Met645Val) c.1330A>G (p.Met444Val) n.90A>G c.1840A>G (p.Met614Val) c.1501A>G (p.Met501Val) c.1849A>G (p.Met617Val) c.1957A>G (p.Met653Val) c.1921A>G (p.Met641Val) c.1879A>G (p.Met627Val) c.1679+6120A>G (n.1679+6120A>G) c.1975A>G (p.Met659Val) c.2041A>G (p.Met681Val) c.2038A>G (p.Met680Val) c.2011A>G (p.Met671Val) c.1930A>G (p.Met644Val) c.1915A>G (p.Met639Val) c.1522A>G (p.Met508Val) c.1984A>G (p.Met662Val) c.1918A>G (p.Met640Val) c.1876A>G (p.Met626Val) c.949A>G (p.Met317Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.63407330T>G | CA409639418 | KCNQ2 | c.1987A>C (p.Met663Leu) c.1933A>C (p.Met645Leu) c.1330A>C (p.Met444Leu) n.90A>C c.1840A>C (p.Met614Leu) c.1501A>C (p.Met501Leu) c.1849A>C (p.Met617Leu) c.1957A>C (p.Met653Leu) c.1921A>C (p.Met641Leu) c.1879A>C (p.Met627Leu) c.1679+6120A>C (n.1679+6120A>C) c.1975A>C (p.Met659Leu) c.2041A>C (p.Met681Leu) c.2038A>C (p.Met680Leu) c.2011A>C (p.Met671Leu) c.1930A>C (p.Met644Leu) c.1915A>C (p.Met639Leu) c.1522A>C (p.Met508Leu) c.1984A>C (p.Met662Leu) c.1918A>C (p.Met640Leu) c.1876A>C (p.Met626Leu) c.949A>C (p.Met317Leu) | |
| 20 | g.63407330T= | CA2374774552 | KCNQ2 | c.1987A= (p.Met663=) c.1933A= (p.Met645=) c.1330A= (p.Met444=) n.90A= c.1840A= (p.Met614=) c.1501A= (p.Met501=) c.1849A= (p.Met617=) c.1957A= (p.Met653=) c.1921A= (p.Met641=) c.1879A= (p.Met627=) c.1679+6120A= (n.1679+6120A=) c.1975A= (p.Met659=) c.2041A= (p.Met681=) c.2038A= (p.Met680=) c.2011A= (p.Met671=) c.1930A= (p.Met644=) c.1915A= (p.Met639=) c.1522A= (p.Met508=) c.1984A= (p.Met662=) c.1918A= (p.Met640=) c.1876A= (p.Met626=) c.949A= (p.Met317=) | |
| 20 | g.63407331G>A | CA511339616 | KCNQ2 | c.1986C>T (p.Tyr662=) c.1932C>T (p.Tyr644=) c.1329C>T (p.Tyr443=) n.89C>T c.1839C>T (p.Tyr613=) c.1500C>T (p.Tyr500=) c.1848C>T (p.Tyr616=) c.1956C>T (p.Tyr652=) c.1920C>T (p.Tyr640=) c.1878C>T (p.Tyr626=) c.1679+6119C>T (n.1679+6119C>T) c.1974C>T (p.Tyr658=) c.2040C>T (p.Tyr680=) c.2037C>T (p.Tyr679=) c.2010C>T (p.Tyr670=) c.1929C>T (p.Tyr643=) c.1914C>T (p.Tyr638=) c.1521C>T (p.Tyr507=) c.1983C>T (p.Tyr661=) c.1917C>T (p.Tyr639=) c.1875C>T (p.Tyr625=) c.948C>T (p.Tyr316=) | gnomAD v4 |
| 20 | g.63407331G>C | CA409639421 | KCNQ2 | c.1986C>G (p.Tyr662Ter) c.1932C>G (p.Tyr644Ter) c.1329C>G (p.Tyr443Ter) n.89C>G c.1839C>G (p.Tyr613Ter) c.1500C>G (p.Tyr500Ter) c.1848C>G (p.Tyr616Ter) c.1956C>G (p.Tyr652Ter) c.1920C>G (p.Tyr640Ter) c.1878C>G (p.Tyr626Ter) c.1679+6119C>G (n.1679+6119C>G) c.1974C>G (p.Tyr658Ter) c.2040C>G (p.Tyr680Ter) c.2037C>G (p.Tyr679Ter) c.2010C>G (p.Tyr670Ter) c.1929C>G (p.Tyr643Ter) c.1914C>G (p.Tyr638Ter) c.1521C>G (p.Tyr507Ter) c.1983C>G (p.Tyr661Ter) c.1917C>G (p.Tyr639Ter) c.1875C>G (p.Tyr625Ter) c.948C>G (p.Tyr316Ter) | |
| 20 | g.63407331G>T | CA409639422 | KCNQ2 | c.1986C>A (p.Tyr662Ter) c.1932C>A (p.Tyr644Ter) c.1329C>A (p.Tyr443Ter) n.89C>A c.1839C>A (p.Tyr613Ter) c.1500C>A (p.Tyr500Ter) c.1848C>A (p.Tyr616Ter) c.1956C>A (p.Tyr652Ter) c.1920C>A (p.Tyr640Ter) c.1878C>A (p.Tyr626Ter) c.1679+6119C>A (n.1679+6119C>A) c.1974C>A (p.Tyr658Ter) c.2040C>A (p.Tyr680Ter) c.2037C>A (p.Tyr679Ter) c.2010C>A (p.Tyr670Ter) c.1929C>A (p.Tyr643Ter) c.1914C>A (p.Tyr638Ter) c.1521C>A (p.Tyr507Ter) c.1983C>A (p.Tyr661Ter) c.1917C>A (p.Tyr639Ter) c.1875C>A (p.Tyr625Ter) c.948C>A (p.Tyr316Ter) | gnomAD v4 |
| 20 | g.63407332T>A | CA409639423 | KCNQ2 | c.1985A>T (p.Tyr662Phe) c.1931A>T (p.Tyr644Phe) c.1328A>T (p.Tyr443Phe) n.88A>T c.1838A>T (p.Tyr613Phe) c.1499A>T (p.Tyr500Phe) c.1847A>T (p.Tyr616Phe) c.1955A>T (p.Tyr652Phe) c.1919A>T (p.Tyr640Phe) c.1877A>T (p.Tyr626Phe) c.1679+6118A>T (n.1679+6118A>T) c.1973A>T (p.Tyr658Phe) c.2039A>T (p.Tyr680Phe) c.2036A>T (p.Tyr679Phe) c.2009A>T (p.Tyr670Phe) c.1928A>T (p.Tyr643Phe) c.1913A>T (p.Tyr638Phe) c.1520A>T (p.Tyr507Phe) c.1982A>T (p.Tyr661Phe) c.1916A>T (p.Tyr639Phe) c.1874A>T (p.Tyr625Phe) c.947A>T (p.Tyr316Phe) | |
| 20 | g.63407332T>C | CA409639425 | KCNQ2 | c.1985A>G (p.Tyr662Cys) c.1931A>G (p.Tyr644Cys) c.1328A>G (p.Tyr443Cys) n.88A>G c.1838A>G (p.Tyr613Cys) c.1499A>G (p.Tyr500Cys) c.1847A>G (p.Tyr616Cys) c.1955A>G (p.Tyr652Cys) c.1919A>G (p.Tyr640Cys) c.1877A>G (p.Tyr626Cys) c.1679+6118A>G (n.1679+6118A>G) c.1973A>G (p.Tyr658Cys) c.2039A>G (p.Tyr680Cys) c.2036A>G (p.Tyr679Cys) c.2009A>G (p.Tyr670Cys) c.1928A>G (p.Tyr643Cys) c.1913A>G (p.Tyr638Cys) c.1520A>G (p.Tyr507Cys) c.1982A>G (p.Tyr661Cys) c.1916A>G (p.Tyr639Cys) c.1874A>G (p.Tyr625Cys) c.947A>G (p.Tyr316Cys) | gnomAD v4 |
| 20 | g.63407332T>G | CA409639427 | KCNQ2 | c.1985A>C (p.Tyr662Ser) c.1931A>C (p.Tyr644Ser) c.1328A>C (p.Tyr443Ser) n.88A>C c.1838A>C (p.Tyr613Ser) c.1499A>C (p.Tyr500Ser) c.1847A>C (p.Tyr616Ser) c.1955A>C (p.Tyr652Ser) c.1919A>C (p.Tyr640Ser) c.1877A>C (p.Tyr626Ser) c.1679+6118A>C (n.1679+6118A>C) c.1973A>C (p.Tyr658Ser) c.2039A>C (p.Tyr680Ser) c.2036A>C (p.Tyr679Ser) c.2009A>C (p.Tyr670Ser) c.1928A>C (p.Tyr643Ser) c.1913A>C (p.Tyr638Ser) c.1520A>C (p.Tyr507Ser) c.1982A>C (p.Tyr661Ser) c.1916A>C (p.Tyr639Ser) c.1874A>C (p.Tyr625Ser) c.947A>C (p.Tyr316Ser) | |
| 20 | g.63407332T= | CA2374774554 | KCNQ2 | c.1985A= (p.Tyr662=) c.1931A= (p.Tyr644=) c.1328A= (p.Tyr443=) n.88A= c.1838A= (p.Tyr613=) c.1499A= (p.Tyr500=) c.1847A= (p.Tyr616=) c.1955A= (p.Tyr652=) c.1919A= (p.Tyr640=) c.1877A= (p.Tyr626=) c.1679+6118A= (n.1679+6118A=) c.1973A= (p.Tyr658=) c.2039A= (p.Tyr680=) c.2036A= (p.Tyr679=) c.2009A= (p.Tyr670=) c.1928A= (p.Tyr643=) c.1913A= (p.Tyr638=) c.1520A= (p.Tyr507=) c.1982A= (p.Tyr661=) c.1916A= (p.Tyr639=) c.1874A= (p.Tyr625=) c.947A= (p.Tyr316=) | |
| 20 | g.63407332_63407333delinsTA | CA2374774553 | KCNQ2 | c.1984_1985delinsTA (p.Tyr662=) c.1930_1931delinsTA (p.Tyr644=) c.1327_1328delinsTA (p.Tyr443=) n.87_88delinsTA c.1837_1838delinsTA (p.Tyr613=) c.1498_1499delinsTA (p.Tyr500=) c.1846_1847delinsTA (p.Tyr616=) c.1954_1955delinsTA (p.Tyr652=) c.1918_1919delinsTA (p.Tyr640=) c.1876_1877delinsTA (p.Tyr626=) c.1679+6117_1679+6118delinsTA (n.1679+6117_1679+6118delinsTA) c.1972_1973delinsTA (p.Tyr658=) c.2038_2039delinsTA (p.Tyr680=) c.2035_2036delinsTA (p.Tyr679=) c.2008_2009delinsTA (p.Tyr670=) c.1927_1928delinsTA (p.Tyr643=) c.1912_1913delinsTA (p.Tyr638=) c.1519_1520delinsTA (p.Tyr507=) c.1981_1982delinsTA (p.Tyr661=) c.1915_1916delinsTA (p.Tyr639=) c.1873_1874delinsTA (p.Tyr625=) c.946_947delinsTA (p.Tyr316=) | |
| 20 | g.63407333del | CA342481 | KCNQ2 | c.1984del (p.Tyr662ThrfsTer?) c.1930del (p.Tyr644ThrfsTer?) c.1327del (p.Tyr443ThrfsTer?) n.87del c.1837del (p.Tyr613ThrfsTer?) c.1498del (p.Tyr500ThrfsTer?) c.1846del (p.Tyr616ThrfsTer?) c.1954del (p.Tyr652ThrfsTer?) c.1918del (p.Tyr640ThrfsTer?) c.1876del (p.Tyr626ThrfsTer?) c.1679+6117del (n.1679+6117del) c.1972del (p.Tyr658ThrfsTer?) c.2038del (p.Tyr680ThrfsTer?) c.2035del (p.Tyr679ThrfsTer?) c.2008del (p.Tyr670ThrfsTer?) c.1927del (p.Tyr643ThrfsTer?) c.1912del (p.Tyr638ThrfsTer?) c.1519del (p.Tyr507ThrfsTer?) c.1981del (p.Tyr661ThrfsTer?) c.1915del (p.Tyr639ThrfsTer?) c.1873del (p.Tyr625ThrfsTer?) c.946del (p.Tyr316ThrfsTer?) | ClinVar dbSNP |
| 20 | g.63407333A>C | CA409639432 | KCNQ2 | c.1984T>G (p.Tyr662Asp) c.1930T>G (p.Tyr644Asp) c.1327T>G (p.Tyr443Asp) n.87T>G c.1837T>G (p.Tyr613Asp) c.1498T>G (p.Tyr500Asp) c.1846T>G (p.Tyr616Asp) c.1954T>G (p.Tyr652Asp) c.1918T>G (p.Tyr640Asp) c.1876T>G (p.Tyr626Asp) c.1679+6117T>G (n.1679+6117T>G) c.1972T>G (p.Tyr658Asp) c.2038T>G (p.Tyr680Asp) c.2035T>G (p.Tyr679Asp) c.2008T>G (p.Tyr670Asp) c.1927T>G (p.Tyr643Asp) c.1912T>G (p.Tyr638Asp) c.1519T>G (p.Tyr507Asp) c.1981T>G (p.Tyr661Asp) c.1915T>G (p.Tyr639Asp) c.1873T>G (p.Tyr625Asp) c.946T>G (p.Tyr316Asp) | |
| 20 | g.63407333A>G | CA409639433 | KCNQ2 | c.1984T>C (p.Tyr662His) c.1930T>C (p.Tyr644His) c.1327T>C (p.Tyr443His) n.87T>C c.1837T>C (p.Tyr613His) c.1498T>C (p.Tyr500His) c.1846T>C (p.Tyr616His) c.1954T>C (p.Tyr652His) c.1918T>C (p.Tyr640His) c.1876T>C (p.Tyr626His) c.1679+6117T>C (n.1679+6117T>C) c.1972T>C (p.Tyr658His) c.2038T>C (p.Tyr680His) c.2035T>C (p.Tyr679His) c.2008T>C (p.Tyr670His) c.1927T>C (p.Tyr643His) c.1912T>C (p.Tyr638His) c.1519T>C (p.Tyr507His) c.1981T>C (p.Tyr661His) c.1915T>C (p.Tyr639His) c.1873T>C (p.Tyr625His) c.946T>C (p.Tyr316His) | |
| 20 | g.63407333A>T | CA409639434 | KCNQ2 | c.1984T>A (p.Tyr662Asn) c.1930T>A (p.Tyr644Asn) c.1327T>A (p.Tyr443Asn) n.87T>A c.1837T>A (p.Tyr613Asn) c.1498T>A (p.Tyr500Asn) c.1846T>A (p.Tyr616Asn) c.1954T>A (p.Tyr652Asn) c.1918T>A (p.Tyr640Asn) c.1876T>A (p.Tyr626Asn) c.1679+6117T>A (n.1679+6117T>A) c.1972T>A (p.Tyr658Asn) c.2038T>A (p.Tyr680Asn) c.2035T>A (p.Tyr679Asn) c.2008T>A (p.Tyr670Asn) c.1927T>A (p.Tyr643Asn) c.1912T>A (p.Tyr638Asn) c.1519T>A (p.Tyr507Asn) c.1981T>A (p.Tyr661Asn) c.1915T>A (p.Tyr639Asn) c.1873T>A (p.Tyr625Asn) c.946T>A (p.Tyr316Asn) | |
| 20 | g.63407333dup | CA315551 | KCNQ2 | c.1984dup (p.Tyr662LeufsTer?) c.1930dup (p.Tyr644LeufsTer?) c.1327dup (p.Tyr443LeufsTer?) n.87dup c.1837dup (p.Tyr613LeufsTer?) c.1498dup (p.Tyr500LeufsTer?) c.1846dup (p.Tyr616LeufsTer?) c.1954dup (p.Tyr652LeufsTer?) c.1918dup (p.Tyr640LeufsTer?) c.1876dup (p.Tyr626LeufsTer?) c.1679+6117dup (n.1679+6117dup) c.1972dup (p.Tyr658LeufsTer?) c.2038dup (p.Tyr680LeufsTer?) c.2035dup (p.Tyr679LeufsTer?) c.2008dup (p.Tyr670LeufsTer?) c.1927dup (p.Tyr643LeufsTer?) c.1912dup (p.Tyr638LeufsTer?) c.1519dup (p.Tyr507LeufsTer?) c.1981dup (p.Tyr661LeufsTer?) c.1915dup (p.Tyr639LeufsTer?) c.1873dup (p.Tyr625LeufsTer?) c.946dup (p.Tyr316LeufsTer?) | ClinVar dbSNP |
| 20 | g.63407334G>A | CA9958198 | KCNQ2 | c.1983C>T (p.Ile661=) c.1929C>T (p.Ile643=) c.1326C>T (p.Ile442=) n.86C>T c.1836C>T (p.Ile612=) c.1497C>T (p.Ile499=) c.1845C>T (p.Ile615=) c.1953C>T (p.Ile651=) c.1917C>T (p.Ile639=) c.1875C>T (p.Ile625=) c.1679+6116C>T (n.1679+6116C>T) c.1971C>T (p.Ile657=) c.2037C>T (p.Ile679=) c.2034C>T (p.Ile678=) c.2007C>T (p.Ile669=) c.1926C>T (p.Ile642=) c.1911C>T (p.Ile637=) c.1518C>T (p.Ile506=) c.1980C>T (p.Ile660=) c.1914C>T (p.Ile638=) c.1872C>T (p.Ile624=) c.945C>T (p.Ile315=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63407334G>C | CA409639437 | KCNQ2 | c.1983C>G (p.Ile661Met) c.1929C>G (p.Ile643Met) c.1326C>G (p.Ile442Met) n.86C>G c.1836C>G (p.Ile612Met) c.1497C>G (p.Ile499Met) c.1845C>G (p.Ile615Met) c.1953C>G (p.Ile651Met) c.1917C>G (p.Ile639Met) c.1875C>G (p.Ile625Met) c.1679+6116C>G (n.1679+6116C>G) c.1971C>G (p.Ile657Met) c.2037C>G (p.Ile679Met) c.2034C>G (p.Ile678Met) c.2007C>G (p.Ile669Met) c.1926C>G (p.Ile642Met) c.1911C>G (p.Ile637Met) c.1518C>G (p.Ile506Met) c.1980C>G (p.Ile660Met) c.1914C>G (p.Ile638Met) c.1872C>G (p.Ile624Met) c.945C>G (p.Ile315Met) | |
| 20 | g.63407334G= | CA2374774555 | KCNQ2 | c.1983C= (p.Ile661=) c.1929C= (p.Ile643=) c.1326C= (p.Ile442=) n.86C= c.1836C= (p.Ile612=) c.1497C= (p.Ile499=) c.1845C= (p.Ile615=) c.1953C= (p.Ile651=) c.1917C= (p.Ile639=) c.1875C= (p.Ile625=) c.1679+6116C= (n.1679+6116C=) c.1971C= (p.Ile657=) c.2037C= (p.Ile679=) c.2034C= (p.Ile678=) c.2007C= (p.Ile669=) c.1926C= (p.Ile642=) c.1911C= (p.Ile637=) c.1518C= (p.Ile506=) c.1980C= (p.Ile660=) c.1914C= (p.Ile638=) c.1872C= (p.Ile624=) c.945C= (p.Ile315=) | |
| 20 | g.63407334G>T | CA511339626 | KCNQ2 | c.1983C>A (p.Ile661=) c.1929C>A (p.Ile643=) c.1326C>A (p.Ile442=) n.86C>A c.1836C>A (p.Ile612=) c.1497C>A (p.Ile499=) c.1845C>A (p.Ile615=) c.1953C>A (p.Ile651=) c.1917C>A (p.Ile639=) c.1875C>A (p.Ile625=) c.1679+6116C>A (n.1679+6116C>A) c.1971C>A (p.Ile657=) c.2037C>A (p.Ile679=) c.2034C>A (p.Ile678=) c.2007C>A (p.Ile669=) c.1926C>A (p.Ile642=) c.1911C>A (p.Ile637=) c.1518C>A (p.Ile506=) c.1980C>A (p.Ile660=) c.1914C>A (p.Ile638=) c.1872C>A (p.Ile624=) c.945C>A (p.Ile315=) | |
| 20 | g.63407335A>C | CA409639440 | KCNQ2 | c.1982T>G (p.Ile661Ser) c.1928T>G (p.Ile643Ser) c.1325T>G (p.Ile442Ser) n.85T>G c.1835T>G (p.Ile612Ser) c.1496T>G (p.Ile499Ser) c.1844T>G (p.Ile615Ser) c.1952T>G (p.Ile651Ser) c.1916T>G (p.Ile639Ser) c.1874T>G (p.Ile625Ser) c.1679+6115T>G (n.1679+6115T>G) c.1970T>G (p.Ile657Ser) c.2036T>G (p.Ile679Ser) c.2033T>G (p.Ile678Ser) c.2006T>G (p.Ile669Ser) c.1925T>G (p.Ile642Ser) c.1910T>G (p.Ile637Ser) c.1517T>G (p.Ile506Ser) c.1979T>G (p.Ile660Ser) c.1913T>G (p.Ile638Ser) c.1871T>G (p.Ile624Ser) c.944T>G (p.Ile315Ser) | |
| 20 | g.63407335A>G | CA409639441 | KCNQ2 | c.1982T>C (p.Ile661Thr) c.1928T>C (p.Ile643Thr) c.1325T>C (p.Ile442Thr) n.85T>C c.1835T>C (p.Ile612Thr) c.1496T>C (p.Ile499Thr) c.1844T>C (p.Ile615Thr) c.1952T>C (p.Ile651Thr) c.1916T>C (p.Ile639Thr) c.1874T>C (p.Ile625Thr) c.1679+6115T>C (n.1679+6115T>C) c.1970T>C (p.Ile657Thr) c.2036T>C (p.Ile679Thr) c.2033T>C (p.Ile678Thr) c.2006T>C (p.Ile669Thr) c.1925T>C (p.Ile642Thr) c.1910T>C (p.Ile637Thr) c.1517T>C (p.Ile506Thr) c.1979T>C (p.Ile660Thr) c.1913T>C (p.Ile638Thr) c.1871T>C (p.Ile624Thr) c.944T>C (p.Ile315Thr) | |
| 20 | g.63407335A>T | CA409639439 | KCNQ2 | c.1982T>A (p.Ile661Asn) c.1928T>A (p.Ile643Asn) c.1325T>A (p.Ile442Asn) n.85T>A c.1835T>A (p.Ile612Asn) c.1496T>A (p.Ile499Asn) c.1844T>A (p.Ile615Asn) c.1952T>A (p.Ile651Asn) c.1916T>A (p.Ile639Asn) c.1874T>A (p.Ile625Asn) c.1679+6115T>A (n.1679+6115T>A) c.1970T>A (p.Ile657Asn) c.2036T>A (p.Ile679Asn) c.2033T>A (p.Ile678Asn) c.2006T>A (p.Ile669Asn) c.1925T>A (p.Ile642Asn) c.1910T>A (p.Ile637Asn) c.1517T>A (p.Ile506Asn) c.1979T>A (p.Ile660Asn) c.1913T>A (p.Ile638Asn) c.1871T>A (p.Ile624Asn) c.944T>A (p.Ile315Asn) | |
| 20 | g.63407336T>A | CA409639443 | KCNQ2 | c.1981A>T (p.Ile661Phe) c.1927A>T (p.Ile643Phe) c.1324A>T (p.Ile442Phe) n.84A>T c.1834A>T (p.Ile612Phe) c.1495A>T (p.Ile499Phe) c.1843A>T (p.Ile615Phe) c.1951A>T (p.Ile651Phe) c.1915A>T (p.Ile639Phe) c.1873A>T (p.Ile625Phe) c.1679+6114A>T (n.1679+6114A>T) c.1969A>T (p.Ile657Phe) c.2035A>T (p.Ile679Phe) c.2032A>T (p.Ile678Phe) c.2005A>T (p.Ile669Phe) c.1924A>T (p.Ile642Phe) c.1909A>T (p.Ile637Phe) c.1516A>T (p.Ile506Phe) c.1978A>T (p.Ile660Phe) c.1912A>T (p.Ile638Phe) c.1870A>T (p.Ile624Phe) c.943A>T (p.Ile315Phe) | |
| 20 | g.63407336T>C | CA317422617 | KCNQ2 | c.1981A>G (p.Ile661Val) c.1927A>G (p.Ile643Val) c.1324A>G (p.Ile442Val) n.84A>G c.1834A>G (p.Ile612Val) c.1495A>G (p.Ile499Val) c.1843A>G (p.Ile615Val) c.1951A>G (p.Ile651Val) c.1915A>G (p.Ile639Val) c.1873A>G (p.Ile625Val) c.1679+6114A>G (n.1679+6114A>G) c.1969A>G (p.Ile657Val) c.2035A>G (p.Ile679Val) c.2032A>G (p.Ile678Val) c.2005A>G (p.Ile669Val) c.1924A>G (p.Ile642Val) c.1909A>G (p.Ile637Val) c.1516A>G (p.Ile506Val) c.1978A>G (p.Ile660Val) c.1912A>G (p.Ile638Val) c.1870A>G (p.Ile624Val) c.943A>G (p.Ile315Val) | dbSNP |
| 20 | g.63407336T>G | CA409639444 | KCNQ2 | c.1981A>C (p.Ile661Leu) c.1927A>C (p.Ile643Leu) c.1324A>C (p.Ile442Leu) n.84A>C c.1834A>C (p.Ile612Leu) c.1495A>C (p.Ile499Leu) c.1843A>C (p.Ile615Leu) c.1951A>C (p.Ile651Leu) c.1915A>C (p.Ile639Leu) c.1873A>C (p.Ile625Leu) c.1679+6114A>C (n.1679+6114A>C) c.1969A>C (p.Ile657Leu) c.2035A>C (p.Ile679Leu) c.2032A>C (p.Ile678Leu) c.2005A>C (p.Ile669Leu) c.1924A>C (p.Ile642Leu) c.1909A>C (p.Ile637Leu) c.1516A>C (p.Ile506Leu) c.1978A>C (p.Ile660Leu) c.1912A>C (p.Ile638Leu) c.1870A>C (p.Ile624Leu) c.943A>C (p.Ile315Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63407336T= | CA2374774556 | KCNQ2 | c.1981A= (p.Ile661=) c.1927A= (p.Ile643=) c.1324A= (p.Ile442=) n.84A= c.1834A= (p.Ile612=) c.1495A= (p.Ile499=) c.1843A= (p.Ile615=) c.1951A= (p.Ile651=) c.1915A= (p.Ile639=) c.1873A= (p.Ile625=) c.1679+6114A= (n.1679+6114A=) c.1969A= (p.Ile657=) c.2035A= (p.Ile679=) c.2032A= (p.Ile678=) c.2005A= (p.Ile669=) c.1924A= (p.Ile642=) c.1909A= (p.Ile637=) c.1516A= (p.Ile506=) c.1978A= (p.Ile660=) c.1912A= (p.Ile638=) c.1870A= (p.Ile624=) c.943A= (p.Ile315=) | |
| 20 | g.63407337A>C | CA409639448 | KCNQ2 | c.1980T>G (p.Asn660Lys) c.1926T>G (p.Asn642Lys) c.1323T>G (p.Asn441Lys) n.83T>G c.1833T>G (p.Asn611Lys) c.1494T>G (p.Asn498Lys) c.1842T>G (p.Asn614Lys) c.1950T>G (p.Asn650Lys) c.1914T>G (p.Asn638Lys) c.1872T>G (p.Asn624Lys) c.1679+6113T>G (n.1679+6113T>G) c.1968T>G (p.Asn656Lys) c.2034T>G (p.Asn678Lys) c.2031T>G (p.Asn677Lys) c.2004T>G (p.Asn668Lys) c.1923T>G (p.Asn641Lys) c.1908T>G (p.Asn636Lys) c.1515T>G (p.Asn505Lys) c.1977T>G (p.Asn659Lys) c.1911T>G (p.Asn637Lys) c.1869T>G (p.Asn623Lys) c.942T>G (p.Asn314Lys) | |
| 20 | g.63407337A>G | CA511339636 | KCNQ2 | c.1980T>C (p.Asn660=) c.1926T>C (p.Asn642=) c.1323T>C (p.Asn441=) n.83T>C c.1833T>C (p.Asn611=) c.1494T>C (p.Asn498=) c.1842T>C (p.Asn614=) c.1950T>C (p.Asn650=) c.1914T>C (p.Asn638=) c.1872T>C (p.Asn624=) c.1679+6113T>C (n.1679+6113T>C) c.1968T>C (p.Asn656=) c.2034T>C (p.Asn678=) c.2031T>C (p.Asn677=) c.2004T>C (p.Asn668=) c.1923T>C (p.Asn641=) c.1908T>C (p.Asn636=) c.1515T>C (p.Asn505=) c.1977T>C (p.Asn659=) c.1911T>C (p.Asn637=) c.1869T>C (p.Asn623=) c.942T>C (p.Asn314=) | gnomAD v4 |
| 20 | g.63407337A>T | CA409639449 | KCNQ2 | c.1980T>A (p.Asn660Lys) c.1926T>A (p.Asn642Lys) c.1323T>A (p.Asn441Lys) n.83T>A c.1833T>A (p.Asn611Lys) c.1494T>A (p.Asn498Lys) c.1842T>A (p.Asn614Lys) c.1950T>A (p.Asn650Lys) c.1914T>A (p.Asn638Lys) c.1872T>A (p.Asn624Lys) c.1679+6113T>A (n.1679+6113T>A) c.1968T>A (p.Asn656Lys) c.2034T>A (p.Asn678Lys) c.2031T>A (p.Asn677Lys) c.2004T>A (p.Asn668Lys) c.1923T>A (p.Asn641Lys) c.1908T>A (p.Asn636Lys) c.1515T>A (p.Asn505Lys) c.1977T>A (p.Asn659Lys) c.1911T>A (p.Asn637Lys) c.1869T>A (p.Asn623Lys) c.942T>A (p.Asn314Lys) | |
| 20 | g.63407338T>A | CA409639451 | KCNQ2 | c.1979A>T (p.Asn660Ile) c.1925A>T (p.Asn642Ile) c.1322A>T (p.Asn441Ile) n.82A>T c.1832A>T (p.Asn611Ile) c.1493A>T (p.Asn498Ile) c.1841A>T (p.Asn614Ile) c.1949A>T (p.Asn650Ile) c.1913A>T (p.Asn638Ile) c.1871A>T (p.Asn624Ile) c.1679+6112A>T (n.1679+6112A>T) c.1967A>T (p.Asn656Ile) c.2033A>T (p.Asn678Ile) c.2030A>T (p.Asn677Ile) c.2003A>T (p.Asn668Ile) c.1922A>T (p.Asn641Ile) c.1907A>T (p.Asn636Ile) c.1514A>T (p.Asn505Ile) c.1976A>T (p.Asn659Ile) c.1910A>T (p.Asn637Ile) c.1868A>T (p.Asn623Ile) c.941A>T (p.Asn314Ile) | |
| 20 | g.63407338T>C | CA409639455 | KCNQ2 | c.1979A>G (p.Asn660Ser) c.1925A>G (p.Asn642Ser) c.1322A>G (p.Asn441Ser) n.82A>G c.1832A>G (p.Asn611Ser) c.1493A>G (p.Asn498Ser) c.1841A>G (p.Asn614Ser) c.1949A>G (p.Asn650Ser) c.1913A>G (p.Asn638Ser) c.1871A>G (p.Asn624Ser) c.1679+6112A>G (n.1679+6112A>G) c.1967A>G (p.Asn656Ser) c.2033A>G (p.Asn678Ser) c.2030A>G (p.Asn677Ser) c.2003A>G (p.Asn668Ser) c.1922A>G (p.Asn641Ser) c.1907A>G (p.Asn636Ser) c.1514A>G (p.Asn505Ser) c.1976A>G (p.Asn659Ser) c.1910A>G (p.Asn637Ser) c.1868A>G (p.Asn623Ser) c.941A>G (p.Asn314Ser) | |
| 20 | g.63407338T>G | CA409639453 | KCNQ2 | c.1979A>C (p.Asn660Thr) c.1925A>C (p.Asn642Thr) c.1322A>C (p.Asn441Thr) n.82A>C c.1832A>C (p.Asn611Thr) c.1493A>C (p.Asn498Thr) c.1841A>C (p.Asn614Thr) c.1949A>C (p.Asn650Thr) c.1913A>C (p.Asn638Thr) c.1871A>C (p.Asn624Thr) c.1679+6112A>C (n.1679+6112A>C) c.1967A>C (p.Asn656Thr) c.2033A>C (p.Asn678Thr) c.2030A>C (p.Asn677Thr) c.2003A>C (p.Asn668Thr) c.1922A>C (p.Asn641Thr) c.1907A>C (p.Asn636Thr) c.1514A>C (p.Asn505Thr) c.1976A>C (p.Asn659Thr) c.1910A>C (p.Asn637Thr) c.1868A>C (p.Asn623Thr) c.941A>C (p.Asn314Thr) |