| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.70777151T>A | CA367669823 | AUTS2 | c.49T>A (p.Tyr17Asn) c.1981T>A (p.Tyr661Asn) c.79T>A (p.Tyr27Asn) c.316T>A (p.Tyr106Asn) c.74T>A n.649T>A c.562T>A (p.Tyr188Asn) c.607T>A (p.Tyr203Asn) c.1978T>A (p.Tyr660Asn) n.292T>A c.846T>A c.1909T>A (p.Tyr637Asn) c.79T>A n.647T>A n.478T>A n.349T>A c.1237T>A (p.Tyr413Asn) c.1165T>A (p.Tyr389Asn) c.628T>A (p.Tyr210Asn) c.2002T>A (p.Tyr668Asn) c.1999T>A (p.Tyr667Asn) c.1936T>A (p.Tyr646Asn) c.1930T>A (p.Tyr644Asn) c.1900T>A (p.Tyr634Asn) c.1738T>A (p.Tyr580Asn) c.1711T>A (p.Tyr571Asn) c.1528T>A (p.Tyr510Asn) c.1501T>A (p.Tyr501Asn) | |
| 7 | g.70777151T>C | CA367669824 | AUTS2 | c.49T>C (p.Tyr17His) c.1981T>C (p.Tyr661His) c.79T>C (p.Tyr27His) c.316T>C (p.Tyr106His) c.74T>C n.649T>C c.562T>C (p.Tyr188His) c.607T>C (p.Tyr203His) c.1978T>C (p.Tyr660His) n.292T>C c.846T>C c.1909T>C (p.Tyr637His) c.79T>C n.647T>C n.478T>C n.349T>C c.1237T>C (p.Tyr413His) c.1165T>C (p.Tyr389His) c.628T>C (p.Tyr210His) c.2002T>C (p.Tyr668His) c.1999T>C (p.Tyr667His) c.1936T>C (p.Tyr646His) c.1930T>C (p.Tyr644His) c.1900T>C (p.Tyr634His) c.1738T>C (p.Tyr580His) c.1711T>C (p.Tyr571His) c.1528T>C (p.Tyr510His) c.1501T>C (p.Tyr501His) | |
| 7 | g.70777151T>G | CA367669822 | AUTS2 | c.49T>G (p.Tyr17Asp) c.1981T>G (p.Tyr661Asp) c.79T>G (p.Tyr27Asp) c.316T>G (p.Tyr106Asp) c.74T>G n.649T>G c.562T>G (p.Tyr188Asp) c.607T>G (p.Tyr203Asp) c.1978T>G (p.Tyr660Asp) n.292T>G c.846T>G c.1909T>G (p.Tyr637Asp) c.79T>G n.647T>G n.478T>G n.349T>G c.1237T>G (p.Tyr413Asp) c.1165T>G (p.Tyr389Asp) c.628T>G (p.Tyr210Asp) c.2002T>G (p.Tyr668Asp) c.1999T>G (p.Tyr667Asp) c.1936T>G (p.Tyr646Asp) c.1930T>G (p.Tyr644Asp) c.1900T>G (p.Tyr634Asp) c.1738T>G (p.Tyr580Asp) c.1711T>G (p.Tyr571Asp) c.1528T>G (p.Tyr510Asp) c.1501T>G (p.Tyr501Asp) | |
| 7 | g.70777152A>C | CA367669826 | AUTS2 | c.50A>C (p.Tyr17Ser) c.1982A>C (p.Tyr661Ser) c.80A>C (p.Tyr27Ser) c.317A>C (p.Tyr106Ser) c.75A>C n.650A>C c.563A>C (p.Tyr188Ser) c.608A>C (p.Tyr203Ser) c.1979A>C (p.Tyr660Ser) n.293A>C c.847A>C c.1910A>C (p.Tyr637Ser) c.80A>C n.648A>C n.479A>C n.350A>C c.1238A>C (p.Tyr413Ser) c.1166A>C (p.Tyr389Ser) c.629A>C (p.Tyr210Ser) c.2003A>C (p.Tyr668Ser) c.2000A>C (p.Tyr667Ser) c.1937A>C (p.Tyr646Ser) c.1931A>C (p.Tyr644Ser) c.1901A>C (p.Tyr634Ser) c.1739A>C (p.Tyr580Ser) c.1712A>C (p.Tyr571Ser) c.1529A>C (p.Tyr510Ser) c.1502A>C (p.Tyr501Ser) | |
| 7 | g.70777152A>G | CA367669825 | AUTS2 | c.50A>G (p.Tyr17Cys) c.1982A>G (p.Tyr661Cys) c.80A>G (p.Tyr27Cys) c.317A>G (p.Tyr106Cys) c.75A>G n.650A>G c.563A>G (p.Tyr188Cys) c.608A>G (p.Tyr203Cys) c.1979A>G (p.Tyr660Cys) n.293A>G c.847A>G c.1910A>G (p.Tyr637Cys) c.80A>G n.648A>G n.479A>G n.350A>G c.1238A>G (p.Tyr413Cys) c.1166A>G (p.Tyr389Cys) c.629A>G (p.Tyr210Cys) c.2003A>G (p.Tyr668Cys) c.2000A>G (p.Tyr667Cys) c.1937A>G (p.Tyr646Cys) c.1931A>G (p.Tyr644Cys) c.1901A>G (p.Tyr634Cys) c.1739A>G (p.Tyr580Cys) c.1712A>G (p.Tyr571Cys) c.1529A>G (p.Tyr510Cys) c.1502A>G (p.Tyr501Cys) | gnomAD v4 |
| 7 | g.70777152A>T | CA367669827 | AUTS2 | c.50A>T (p.Tyr17Phe) c.1982A>T (p.Tyr661Phe) c.80A>T (p.Tyr27Phe) c.317A>T (p.Tyr106Phe) c.75A>T n.650A>T c.563A>T (p.Tyr188Phe) c.608A>T (p.Tyr203Phe) c.1979A>T (p.Tyr660Phe) n.293A>T c.847A>T c.1910A>T (p.Tyr637Phe) c.80A>T n.648A>T n.479A>T n.350A>T c.1238A>T (p.Tyr413Phe) c.1166A>T (p.Tyr389Phe) c.629A>T (p.Tyr210Phe) c.2003A>T (p.Tyr668Phe) c.2000A>T (p.Tyr667Phe) c.1937A>T (p.Tyr646Phe) c.1931A>T (p.Tyr644Phe) c.1901A>T (p.Tyr634Phe) c.1739A>T (p.Tyr580Phe) c.1712A>T (p.Tyr571Phe) c.1529A>T (p.Tyr510Phe) c.1502A>T (p.Tyr501Phe) | |
| 7 | g.70777159_70777161del | CA2580617853 | AUTS2 | c.57_59del (p.His19del) c.1989_1991del (p.His663del) c.87_89del (p.His29del) c.324_326del (p.His108del) c.82_84del n.657_659del c.570_572del (p.His190del) c.615_617del (p.His205del) c.1986_1988del (p.His662del) n.300_302del c.854_856del c.1917_1919del (p.His639del) c.87_89del n.655_657del n.486_488del n.357_359del c.1245_1247del (p.His415del) c.1173_1175del (p.His391del) c.636_638del (p.His212del) c.2010_2012del (p.His670del) c.2007_2009del (p.His669del) c.1944_1946del (p.His648del) c.1938_1940del (p.His646del) c.1908_1910del (p.His636del) c.1746_1748del (p.His582del) c.1719_1721del (p.His573del) c.1536_1538del (p.His512del) c.1509_1511del (p.His503del) | ClinVar |
| 7 | g.70777153C>A | CA367669828 | AUTS2 | c.51C>A (p.Tyr17Ter) c.1983C>A (p.Tyr661Ter) c.81C>A (p.Tyr27Ter) c.318C>A (p.Tyr106Ter) c.76C>A n.651C>A c.564C>A (p.Tyr188Ter) c.609C>A (p.Tyr203Ter) c.1980C>A (p.Tyr660Ter) n.294C>A c.848C>A c.1911C>A (p.Tyr637Ter) c.81C>A n.649C>A n.480C>A n.351C>A c.1239C>A (p.Tyr413Ter) c.1167C>A (p.Tyr389Ter) c.630C>A (p.Tyr210Ter) c.2004C>A (p.Tyr668Ter) c.2001C>A (p.Tyr667Ter) c.1938C>A (p.Tyr646Ter) c.1932C>A (p.Tyr644Ter) c.1902C>A (p.Tyr634Ter) c.1740C>A (p.Tyr580Ter) c.1713C>A (p.Tyr571Ter) c.1530C>A (p.Tyr510Ter) c.1503C>A (p.Tyr501Ter) | |
| 7 | g.70777153C>G | CA367669829 | AUTS2 | c.51C>G (p.Tyr17Ter) c.1983C>G (p.Tyr661Ter) c.81C>G (p.Tyr27Ter) c.318C>G (p.Tyr106Ter) c.76C>G n.651C>G c.564C>G (p.Tyr188Ter) c.609C>G (p.Tyr203Ter) c.1980C>G (p.Tyr660Ter) n.294C>G c.848C>G c.1911C>G (p.Tyr637Ter) c.81C>G n.649C>G n.480C>G n.351C>G c.1239C>G (p.Tyr413Ter) c.1167C>G (p.Tyr389Ter) c.630C>G (p.Tyr210Ter) c.2004C>G (p.Tyr668Ter) c.2001C>G (p.Tyr667Ter) c.1938C>G (p.Tyr646Ter) c.1932C>G (p.Tyr644Ter) c.1902C>G (p.Tyr634Ter) c.1740C>G (p.Tyr580Ter) c.1713C>G (p.Tyr571Ter) c.1530C>G (p.Tyr510Ter) c.1503C>G (p.Tyr501Ter) | |
| 7 | g.70777153C>T | CA455803138 | AUTS2 | c.51C>T (p.Tyr17=) c.1983C>T (p.Tyr661=) c.81C>T (p.Tyr27=) c.318C>T (p.Tyr106=) c.76C>T n.651C>T c.564C>T (p.Tyr188=) c.609C>T (p.Tyr203=) c.1980C>T (p.Tyr660=) n.294C>T c.848C>T c.1911C>T (p.Tyr637=) c.81C>T n.649C>T n.480C>T n.351C>T c.1239C>T (p.Tyr413=) c.1167C>T (p.Tyr389=) c.630C>T (p.Tyr210=) c.2004C>T (p.Tyr668=) c.2001C>T (p.Tyr667=) c.1938C>T (p.Tyr646=) c.1932C>T (p.Tyr644=) c.1902C>T (p.Tyr634=) c.1740C>T (p.Tyr580=) c.1713C>T (p.Tyr571=) c.1530C>T (p.Tyr510=) c.1503C>T (p.Tyr501=) | |
| 7 | g.70777154C>A | CA367669830 | AUTS2 | c.52C>A (p.His18Asn) c.1984C>A (p.His662Asn) c.82C>A (p.His28Asn) c.319C>A (p.His107Asn) c.77C>A n.652C>A c.565C>A (p.His189Asn) c.610C>A (p.His204Asn) c.1981C>A (p.His661Asn) n.295C>A c.849C>A c.1912C>A (p.His638Asn) c.82C>A n.650C>A n.481C>A n.352C>A c.1240C>A (p.His414Asn) c.1168C>A (p.His390Asn) c.631C>A (p.His211Asn) c.2005C>A (p.His669Asn) c.2002C>A (p.His668Asn) c.1939C>A (p.His647Asn) c.1933C>A (p.His645Asn) c.1903C>A (p.His635Asn) c.1741C>A (p.His581Asn) c.1714C>A (p.His572Asn) c.1531C>A (p.His511Asn) c.1504C>A (p.His502Asn) | |
| 7 | g.70777154C>G | CA367669831 | AUTS2 | c.52C>G (p.His18Asp) c.1984C>G (p.His662Asp) c.82C>G (p.His28Asp) c.319C>G (p.His107Asp) c.77C>G n.652C>G c.565C>G (p.His189Asp) c.610C>G (p.His204Asp) c.1981C>G (p.His661Asp) n.295C>G c.849C>G c.1912C>G (p.His638Asp) c.82C>G n.650C>G n.481C>G n.352C>G c.1240C>G (p.His414Asp) c.1168C>G (p.His390Asp) c.631C>G (p.His211Asp) c.2005C>G (p.His669Asp) c.2002C>G (p.His668Asp) c.1939C>G (p.His647Asp) c.1933C>G (p.His645Asp) c.1903C>G (p.His635Asp) c.1741C>G (p.His581Asp) c.1714C>G (p.His572Asp) c.1531C>G (p.His511Asp) c.1504C>G (p.His502Asp) | |
| 7 | g.70777154C>T | CA367669832 | AUTS2 | c.52C>T (p.His18Tyr) c.1984C>T (p.His662Tyr) c.82C>T (p.His28Tyr) c.319C>T (p.His107Tyr) c.77C>T n.652C>T c.565C>T (p.His189Tyr) c.610C>T (p.His204Tyr) c.1981C>T (p.His661Tyr) n.295C>T c.849C>T c.1912C>T (p.His638Tyr) c.82C>T n.650C>T n.481C>T n.352C>T c.1240C>T (p.His414Tyr) c.1168C>T (p.His390Tyr) c.631C>T (p.His211Tyr) c.2005C>T (p.His669Tyr) c.2002C>T (p.His668Tyr) c.1939C>T (p.His647Tyr) c.1933C>T (p.His645Tyr) c.1903C>T (p.His635Tyr) c.1741C>T (p.His581Tyr) c.1714C>T (p.His572Tyr) c.1531C>T (p.His511Tyr) c.1504C>T (p.His502Tyr) | |
| 7 | g.70777155A>C | CA367669833 | AUTS2 | c.53A>C (p.His18Pro) c.1985A>C (p.His662Pro) c.83A>C (p.His28Pro) c.320A>C (p.His107Pro) c.78A>C n.653A>C c.566A>C (p.His189Pro) c.611A>C (p.His204Pro) c.1982A>C (p.His661Pro) n.296A>C c.850A>C c.1913A>C (p.His638Pro) c.83A>C n.651A>C n.482A>C n.353A>C c.1241A>C (p.His414Pro) c.1169A>C (p.His390Pro) c.632A>C (p.His211Pro) c.2006A>C (p.His669Pro) c.2003A>C (p.His668Pro) c.1940A>C (p.His647Pro) c.1934A>C (p.His645Pro) c.1904A>C (p.His635Pro) c.1742A>C (p.His581Pro) c.1715A>C (p.His572Pro) c.1532A>C (p.His511Pro) c.1505A>C (p.His502Pro) | |
| 7 | g.70777155A>G | CA367669834 | AUTS2 | c.53A>G (p.His18Arg) c.1985A>G (p.His662Arg) c.83A>G (p.His28Arg) c.320A>G (p.His107Arg) c.78A>G n.653A>G c.566A>G (p.His189Arg) c.611A>G (p.His204Arg) c.1982A>G (p.His661Arg) n.296A>G c.850A>G c.1913A>G (p.His638Arg) c.83A>G n.651A>G n.482A>G n.353A>G c.1241A>G (p.His414Arg) c.1169A>G (p.His390Arg) c.632A>G (p.His211Arg) c.2006A>G (p.His669Arg) c.2003A>G (p.His668Arg) c.1940A>G (p.His647Arg) c.1934A>G (p.His645Arg) c.1904A>G (p.His635Arg) c.1742A>G (p.His581Arg) c.1715A>G (p.His572Arg) c.1532A>G (p.His511Arg) c.1505A>G (p.His502Arg) | |
| 7 | g.70777155A>T | CA367669835 | AUTS2 | c.53A>T (p.His18Leu) c.1985A>T (p.His662Leu) c.83A>T (p.His28Leu) c.320A>T (p.His107Leu) c.78A>T n.653A>T c.566A>T (p.His189Leu) c.611A>T (p.His204Leu) c.1982A>T (p.His661Leu) n.296A>T c.850A>T c.1913A>T (p.His638Leu) c.83A>T n.651A>T n.482A>T n.353A>T c.1241A>T (p.His414Leu) c.1169A>T (p.His390Leu) c.632A>T (p.His211Leu) c.2006A>T (p.His669Leu) c.2003A>T (p.His668Leu) c.1940A>T (p.His647Leu) c.1934A>T (p.His645Leu) c.1904A>T (p.His635Leu) c.1742A>T (p.His581Leu) c.1715A>T (p.His572Leu) c.1532A>T (p.His511Leu) c.1505A>T (p.His502Leu) | |
| 7 | g.70777156C>A | CA367669836 | AUTS2 | c.54C>A (p.His18Gln) c.1986C>A (p.His662Gln) c.84C>A (p.His28Gln) c.321C>A (p.His107Gln) c.79C>A n.654C>A c.567C>A (p.His189Gln) c.612C>A (p.His204Gln) c.1983C>A (p.His661Gln) n.297C>A c.851C>A c.1914C>A (p.His638Gln) c.84C>A n.652C>A n.483C>A n.354C>A c.1242C>A (p.His414Gln) c.1170C>A (p.His390Gln) c.633C>A (p.His211Gln) c.2007C>A (p.His669Gln) c.2004C>A (p.His668Gln) c.1941C>A (p.His647Gln) c.1935C>A (p.His645Gln) c.1905C>A (p.His635Gln) c.1743C>A (p.His581Gln) c.1716C>A (p.His572Gln) c.1533C>A (p.His511Gln) c.1506C>A (p.His502Gln) | |
| 7 | g.70777156C>G | CA367669837 | AUTS2 | c.54C>G (p.His18Gln) c.1986C>G (p.His662Gln) c.84C>G (p.His28Gln) c.321C>G (p.His107Gln) c.79C>G n.654C>G c.567C>G (p.His189Gln) c.612C>G (p.His204Gln) c.1983C>G (p.His661Gln) n.297C>G c.851C>G c.1914C>G (p.His638Gln) c.84C>G n.652C>G n.483C>G n.354C>G c.1242C>G (p.His414Gln) c.1170C>G (p.His390Gln) c.633C>G (p.His211Gln) c.2007C>G (p.His669Gln) c.2004C>G (p.His668Gln) c.1941C>G (p.His647Gln) c.1935C>G (p.His645Gln) c.1905C>G (p.His635Gln) c.1743C>G (p.His581Gln) c.1716C>G (p.His572Gln) c.1533C>G (p.His511Gln) c.1506C>G (p.His502Gln) | |
| 7 | g.70777156C>T | CA455803140 | AUTS2 | c.54C>T (p.His18=) c.1986C>T (p.His662=) c.84C>T (p.His28=) c.321C>T (p.His107=) c.79C>T n.654C>T c.567C>T (p.His189=) c.612C>T (p.His204=) c.1983C>T (p.His661=) n.297C>T c.851C>T c.1914C>T (p.His638=) c.84C>T n.652C>T n.483C>T n.354C>T c.1242C>T (p.His414=) c.1170C>T (p.His390=) c.633C>T (p.His211=) c.2007C>T (p.His669=) c.2004C>T (p.His668=) c.1941C>T (p.His647=) c.1935C>T (p.His645=) c.1905C>T (p.His635=) c.1743C>T (p.His581=) c.1716C>T (p.His572=) c.1533C>T (p.His511=) c.1506C>T (p.His502=) | |
| 7 | g.70777157C>A | CA367669838 | AUTS2 | c.55C>A (p.His19Asn) c.1987C>A (p.His663Asn) c.85C>A (p.His29Asn) c.322C>A (p.His108Asn) c.80C>A n.655C>A c.568C>A (p.His190Asn) c.613C>A (p.His205Asn) c.1984C>A (p.His662Asn) n.298C>A c.852C>A c.1915C>A (p.His639Asn) c.85C>A n.653C>A n.484C>A n.355C>A c.1243C>A (p.His415Asn) c.1171C>A (p.His391Asn) c.634C>A (p.His212Asn) c.2008C>A (p.His670Asn) c.2005C>A (p.His669Asn) c.1942C>A (p.His648Asn) c.1936C>A (p.His646Asn) c.1906C>A (p.His636Asn) c.1744C>A (p.His582Asn) c.1717C>A (p.His573Asn) c.1534C>A (p.His512Asn) c.1507C>A (p.His503Asn) | |
| 7 | g.70777157C>G | CA367669839 | AUTS2 | c.55C>G (p.His19Asp) c.1987C>G (p.His663Asp) c.85C>G (p.His29Asp) c.322C>G (p.His108Asp) c.80C>G n.655C>G c.568C>G (p.His190Asp) c.613C>G (p.His205Asp) c.1984C>G (p.His662Asp) n.298C>G c.852C>G c.1915C>G (p.His639Asp) c.85C>G n.653C>G n.484C>G n.355C>G c.1243C>G (p.His415Asp) c.1171C>G (p.His391Asp) c.634C>G (p.His212Asp) c.2008C>G (p.His670Asp) c.2005C>G (p.His669Asp) c.1942C>G (p.His648Asp) c.1936C>G (p.His646Asp) c.1906C>G (p.His636Asp) c.1744C>G (p.His582Asp) c.1717C>G (p.His573Asp) c.1534C>G (p.His512Asp) c.1507C>G (p.His503Asp) | |
| 7 | g.70777157C>T | CA367669840 | AUTS2 | c.55C>T (p.His19Tyr) c.1987C>T (p.His663Tyr) c.85C>T (p.His29Tyr) c.322C>T (p.His108Tyr) c.80C>T n.655C>T c.568C>T (p.His190Tyr) c.613C>T (p.His205Tyr) c.1984C>T (p.His662Tyr) n.298C>T c.852C>T c.1915C>T (p.His639Tyr) c.85C>T n.653C>T n.484C>T n.355C>T c.1243C>T (p.His415Tyr) c.1171C>T (p.His391Tyr) c.634C>T (p.His212Tyr) c.2008C>T (p.His670Tyr) c.2005C>T (p.His669Tyr) c.1942C>T (p.His648Tyr) c.1936C>T (p.His646Tyr) c.1906C>T (p.His636Tyr) c.1744C>T (p.His582Tyr) c.1717C>T (p.His573Tyr) c.1534C>T (p.His512Tyr) c.1507C>T (p.His503Tyr) | gnomAD v4 |
| 7 | g.70777158A>C | CA367669841 | AUTS2 | c.56A>C (p.His19Pro) c.1988A>C (p.His663Pro) c.86A>C (p.His29Pro) c.323A>C (p.His108Pro) c.81A>C n.656A>C c.569A>C (p.His190Pro) c.614A>C (p.His205Pro) c.1985A>C (p.His662Pro) n.299A>C c.853A>C c.1916A>C (p.His639Pro) c.86A>C n.654A>C n.485A>C n.356A>C c.1244A>C (p.His415Pro) c.1172A>C (p.His391Pro) c.635A>C (p.His212Pro) c.2009A>C (p.His670Pro) c.2006A>C (p.His669Pro) c.1943A>C (p.His648Pro) c.1937A>C (p.His646Pro) c.1907A>C (p.His636Pro) c.1745A>C (p.His582Pro) c.1718A>C (p.His573Pro) c.1535A>C (p.His512Pro) c.1508A>C (p.His503Pro) | |
| 7 | g.70777158A>G | CA367669843 | AUTS2 | c.56A>G (p.His19Arg) c.1988A>G (p.His663Arg) c.86A>G (p.His29Arg) c.323A>G (p.His108Arg) c.81A>G n.656A>G c.569A>G (p.His190Arg) c.614A>G (p.His205Arg) c.1985A>G (p.His662Arg) n.299A>G c.853A>G c.1916A>G (p.His639Arg) c.86A>G n.654A>G n.485A>G n.356A>G c.1244A>G (p.His415Arg) c.1172A>G (p.His391Arg) c.635A>G (p.His212Arg) c.2009A>G (p.His670Arg) c.2006A>G (p.His669Arg) c.1943A>G (p.His648Arg) c.1937A>G (p.His646Arg) c.1907A>G (p.His636Arg) c.1745A>G (p.His582Arg) c.1718A>G (p.His573Arg) c.1535A>G (p.His512Arg) c.1508A>G (p.His503Arg) | |
| 7 | g.70777158A>T | CA367669842 | AUTS2 | c.56A>T (p.His19Leu) c.1988A>T (p.His663Leu) c.86A>T (p.His29Leu) c.323A>T (p.His108Leu) c.81A>T n.656A>T c.569A>T (p.His190Leu) c.614A>T (p.His205Leu) c.1985A>T (p.His662Leu) n.299A>T c.853A>T c.1916A>T (p.His639Leu) c.86A>T n.654A>T n.485A>T n.356A>T c.1244A>T (p.His415Leu) c.1172A>T (p.His391Leu) c.635A>T (p.His212Leu) c.2009A>T (p.His670Leu) c.2006A>T (p.His669Leu) c.1943A>T (p.His648Leu) c.1937A>T (p.His646Leu) c.1907A>T (p.His636Leu) c.1745A>T (p.His582Leu) c.1718A>T (p.His573Leu) c.1535A>T (p.His512Leu) c.1508A>T (p.His503Leu) | |
| 7 | g.70777159C>A | CA367669844 | AUTS2 | c.57C>A (p.His19Gln) c.1989C>A (p.His663Gln) c.87C>A (p.His29Gln) c.324C>A (p.His108Gln) c.82C>A n.657C>A c.570C>A (p.His190Gln) c.615C>A (p.His205Gln) c.1986C>A (p.His662Gln) n.300C>A c.854C>A c.1917C>A (p.His639Gln) c.87C>A n.655C>A n.486C>A n.357C>A c.1245C>A (p.His415Gln) c.1173C>A (p.His391Gln) c.636C>A (p.His212Gln) c.2010C>A (p.His670Gln) c.2007C>A (p.His669Gln) c.1944C>A (p.His648Gln) c.1938C>A (p.His646Gln) c.1908C>A (p.His636Gln) c.1746C>A (p.His582Gln) c.1719C>A (p.His573Gln) c.1536C>A (p.His512Gln) c.1509C>A (p.His503Gln) | |
| 7 | g.70777159C>G | CA367669845 | AUTS2 | c.57C>G (p.His19Gln) c.1989C>G (p.His663Gln) c.87C>G (p.His29Gln) c.324C>G (p.His108Gln) c.82C>G n.657C>G c.570C>G (p.His190Gln) c.615C>G (p.His205Gln) c.1986C>G (p.His662Gln) n.300C>G c.854C>G c.1917C>G (p.His639Gln) c.87C>G n.655C>G n.486C>G n.357C>G c.1245C>G (p.His415Gln) c.1173C>G (p.His391Gln) c.636C>G (p.His212Gln) c.2010C>G (p.His670Gln) c.2007C>G (p.His669Gln) c.1944C>G (p.His648Gln) c.1938C>G (p.His646Gln) c.1908C>G (p.His636Gln) c.1746C>G (p.His582Gln) c.1719C>G (p.His573Gln) c.1536C>G (p.His512Gln) c.1509C>G (p.His503Gln) | |
| 7 | g.70777159C>T | CA455803143 | AUTS2 | c.57C>T (p.His19=) c.1989C>T (p.His663=) c.87C>T (p.His29=) c.324C>T (p.His108=) c.82C>T n.657C>T c.570C>T (p.His190=) c.615C>T (p.His205=) c.1986C>T (p.His662=) n.300C>T c.854C>T c.1917C>T (p.His639=) c.87C>T n.655C>T n.486C>T n.357C>T c.1245C>T (p.His415=) c.1173C>T (p.His391=) c.636C>T (p.His212=) c.2010C>T (p.His670=) c.2007C>T (p.His669=) c.1944C>T (p.His648=) c.1938C>T (p.His646=) c.1908C>T (p.His636=) c.1746C>T (p.His582=) c.1719C>T (p.His573=) c.1536C>T (p.His512=) c.1509C>T (p.His503=) | gnomAD v4 |
| 7 | g.70777160C>A | CA367669846 | AUTS2 | c.58C>A (p.Gln20Lys) c.1990C>A (p.Gln664Lys) c.88C>A (p.Gln30Lys) c.325C>A (p.Gln109Lys) c.83C>A n.658C>A c.571C>A (p.Gln191Lys) c.616C>A (p.Gln206Lys) c.1987C>A (p.Gln663Lys) n.301C>A c.855C>A c.1918C>A (p.Gln640Lys) c.88C>A n.656C>A n.487C>A n.358C>A c.1246C>A (p.Gln416Lys) c.1174C>A (p.Gln392Lys) c.637C>A (p.Gln213Lys) c.2011C>A (p.Gln671Lys) c.2008C>A (p.Gln670Lys) c.1945C>A (p.Gln649Lys) c.1939C>A (p.Gln647Lys) c.1909C>A (p.Gln637Lys) c.1747C>A (p.Gln583Lys) c.1720C>A (p.Gln574Lys) c.1537C>A (p.Gln513Lys) c.1510C>A (p.Gln504Lys) | |
| 7 | g.70777160C>G | CA367669847 | AUTS2 | c.58C>G (p.Gln20Glu) c.1990C>G (p.Gln664Glu) c.88C>G (p.Gln30Glu) c.325C>G (p.Gln109Glu) c.83C>G n.658C>G c.571C>G (p.Gln191Glu) c.616C>G (p.Gln206Glu) c.1987C>G (p.Gln663Glu) n.301C>G c.855C>G c.1918C>G (p.Gln640Glu) c.88C>G n.656C>G n.487C>G n.358C>G c.1246C>G (p.Gln416Glu) c.1174C>G (p.Gln392Glu) c.637C>G (p.Gln213Glu) c.2011C>G (p.Gln671Glu) c.2008C>G (p.Gln670Glu) c.1945C>G (p.Gln649Glu) c.1939C>G (p.Gln647Glu) c.1909C>G (p.Gln637Glu) c.1747C>G (p.Gln583Glu) c.1720C>G (p.Gln574Glu) c.1537C>G (p.Gln513Glu) c.1510C>G (p.Gln504Glu) | |
| 7 | g.70777160C>T | CA367669848 | AUTS2 | c.58C>T (p.Gln20Ter) c.1990C>T (p.Gln664Ter) c.88C>T (p.Gln30Ter) c.325C>T (p.Gln109Ter) c.83C>T n.658C>T c.571C>T (p.Gln191Ter) c.616C>T (p.Gln206Ter) c.1987C>T (p.Gln663Ter) n.301C>T c.855C>T c.1918C>T (p.Gln640Ter) c.88C>T n.656C>T n.487C>T n.358C>T c.1246C>T (p.Gln416Ter) c.1174C>T (p.Gln392Ter) c.637C>T (p.Gln213Ter) c.2011C>T (p.Gln671Ter) c.2008C>T (p.Gln670Ter) c.1945C>T (p.Gln649Ter) c.1939C>T (p.Gln647Ter) c.1909C>T (p.Gln637Ter) c.1747C>T (p.Gln583Ter) c.1720C>T (p.Gln574Ter) c.1537C>T (p.Gln513Ter) c.1510C>T (p.Gln504Ter) | |
| 7 | g.70777162_70777164dup | CA2578902347 | AUTS2 | c.60_62dup (p.Gln21_Lys22insGln) c.1992_1994dup (p.Gln665_Lys666insGln) c.90_92dup (p.Gln31_Lys32insGln) c.327_329dup (p.Gln110_Lys111insGln) c.85_87dup n.660_662dup c.573_575dup (p.Gln192_Lys193insGln) c.618_620dup (p.Gln207_Lys208insGln) c.1989_1991dup (p.Gln664_Lys665insGln) n.303_305dup c.857_859dup c.1920_1922dup (p.Gln641_Lys642insGln) c.90_92dup n.658_660dup n.489_491dup n.360_362dup c.1248_1250dup (p.Gln417_Lys418insGln) c.1176_1178dup (p.Gln393_Lys394insGln) c.639_641dup (p.Gln214_Lys215insGln) c.2013_2015dup (p.Gln672_Lys673insGln) c.2010_2012dup (p.Gln671_Lys672insGln) c.1947_1949dup (p.Gln650_Lys651insGln) c.1941_1943dup (p.Gln648_Lys649insGln) c.1911_1913dup (p.Gln638_Lys639insGln) c.1749_1751dup (p.Gln584_Lys585insGln) c.1722_1724dup (p.Gln575_Lys576insGln) c.1539_1541dup (p.Gln514_Lys515insGln) c.1512_1514dup (p.Gln505_Lys506insGln) | |
| 7 | g.70777161A>C | CA367669849 | AUTS2 | c.59A>C (p.Gln20Pro) c.1991A>C (p.Gln664Pro) c.89A>C (p.Gln30Pro) c.326A>C (p.Gln109Pro) c.84A>C n.659A>C c.572A>C (p.Gln191Pro) c.617A>C (p.Gln206Pro) c.1988A>C (p.Gln663Pro) n.302A>C c.856A>C c.1919A>C (p.Gln640Pro) c.89A>C n.657A>C n.488A>C n.359A>C c.1247A>C (p.Gln416Pro) c.1175A>C (p.Gln392Pro) c.638A>C (p.Gln213Pro) c.2012A>C (p.Gln671Pro) c.2009A>C (p.Gln670Pro) c.1946A>C (p.Gln649Pro) c.1940A>C (p.Gln647Pro) c.1910A>C (p.Gln637Pro) c.1748A>C (p.Gln583Pro) c.1721A>C (p.Gln574Pro) c.1538A>C (p.Gln513Pro) c.1511A>C (p.Gln504Pro) | |
| 7 | g.70777161A>G | CA367669850 | AUTS2 | c.59A>G (p.Gln20Arg) c.1991A>G (p.Gln664Arg) c.89A>G (p.Gln30Arg) c.326A>G (p.Gln109Arg) c.84A>G n.659A>G c.572A>G (p.Gln191Arg) c.617A>G (p.Gln206Arg) c.1988A>G (p.Gln663Arg) n.302A>G c.856A>G c.1919A>G (p.Gln640Arg) c.89A>G n.657A>G n.488A>G n.359A>G c.1247A>G (p.Gln416Arg) c.1175A>G (p.Gln392Arg) c.638A>G (p.Gln213Arg) c.2012A>G (p.Gln671Arg) c.2009A>G (p.Gln670Arg) c.1946A>G (p.Gln649Arg) c.1940A>G (p.Gln647Arg) c.1910A>G (p.Gln637Arg) c.1748A>G (p.Gln583Arg) c.1721A>G (p.Gln574Arg) c.1538A>G (p.Gln513Arg) c.1511A>G (p.Gln504Arg) | |
| 7 | g.70777161A>T | CA367669851 | AUTS2 | c.59A>T (p.Gln20Leu) c.1991A>T (p.Gln664Leu) c.89A>T (p.Gln30Leu) c.326A>T (p.Gln109Leu) c.84A>T n.659A>T c.572A>T (p.Gln191Leu) c.617A>T (p.Gln206Leu) c.1988A>T (p.Gln663Leu) n.302A>T c.856A>T c.1919A>T (p.Gln640Leu) c.89A>T n.657A>T n.488A>T n.359A>T c.1247A>T (p.Gln416Leu) c.1175A>T (p.Gln392Leu) c.638A>T (p.Gln213Leu) c.2012A>T (p.Gln671Leu) c.2009A>T (p.Gln670Leu) c.1946A>T (p.Gln649Leu) c.1940A>T (p.Gln647Leu) c.1910A>T (p.Gln637Leu) c.1748A>T (p.Gln583Leu) c.1721A>T (p.Gln574Leu) c.1538A>T (p.Gln513Leu) c.1511A>T (p.Gln504Leu) | |
| 7 | g.70777162A= | CA1716145525 | AUTS2 | c.60A= (p.Gln20=) c.1992A= (p.Gln664=) c.90A= (p.Gln30=) c.327A= (p.Gln109=) c.85A= n.660A= c.573A= (p.Gln191=) c.618A= (p.Gln206=) c.1989A= (p.Gln663=) n.303A= c.857A= c.1920A= (p.Gln640=) c.90A= n.658A= n.489A= n.360A= c.1248A= (p.Gln416=) c.1176A= (p.Gln392=) c.639A= (p.Gln213=) c.2013A= (p.Gln671=) c.2010A= (p.Gln670=) c.1947A= (p.Gln649=) c.1941A= (p.Gln647=) c.1911A= (p.Gln637=) c.1749A= (p.Gln583=) c.1722A= (p.Gln574=) c.1539A= (p.Gln513=) c.1512A= (p.Gln504=) | |
| 7 | g.70777162A>C | CA367669852 | AUTS2 | c.60A>C (p.Gln20His) c.1992A>C (p.Gln664His) c.90A>C (p.Gln30His) c.327A>C (p.Gln109His) c.85A>C n.660A>C c.573A>C (p.Gln191His) c.618A>C (p.Gln206His) c.1989A>C (p.Gln663His) n.303A>C c.857A>C c.1920A>C (p.Gln640His) c.90A>C n.658A>C n.489A>C n.360A>C c.1248A>C (p.Gln416His) c.1176A>C (p.Gln392His) c.639A>C (p.Gln213His) c.2013A>C (p.Gln671His) c.2010A>C (p.Gln670His) c.1947A>C (p.Gln649His) c.1941A>C (p.Gln647His) c.1911A>C (p.Gln637His) c.1749A>C (p.Gln583His) c.1722A>C (p.Gln574His) c.1539A>C (p.Gln513His) c.1512A>C (p.Gln504His) | |
| 7 | g.70777162A>G | CA455803145 | AUTS2 | c.60A>G (p.Gln20=) c.1992A>G (p.Gln664=) c.90A>G (p.Gln30=) c.327A>G (p.Gln109=) c.85A>G n.660A>G c.573A>G (p.Gln191=) c.618A>G (p.Gln206=) c.1989A>G (p.Gln663=) n.303A>G c.857A>G c.1920A>G (p.Gln640=) c.90A>G n.658A>G n.489A>G n.360A>G c.1248A>G (p.Gln416=) c.1176A>G (p.Gln392=) c.639A>G (p.Gln213=) c.2013A>G (p.Gln671=) c.2010A>G (p.Gln670=) c.1947A>G (p.Gln649=) c.1941A>G (p.Gln647=) c.1911A>G (p.Gln637=) c.1749A>G (p.Gln583=) c.1722A>G (p.Gln574=) c.1539A>G (p.Gln513=) c.1512A>G (p.Gln504=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.70777162A>T | CA367669853 | AUTS2 | c.60A>T (p.Gln20His) c.1992A>T (p.Gln664His) c.90A>T (p.Gln30His) c.327A>T (p.Gln109His) c.85A>T n.660A>T c.573A>T (p.Gln191His) c.618A>T (p.Gln206His) c.1989A>T (p.Gln663His) n.303A>T c.857A>T c.1920A>T (p.Gln640His) c.90A>T n.658A>T n.489A>T n.360A>T c.1248A>T (p.Gln416His) c.1176A>T (p.Gln392His) c.639A>T (p.Gln213His) c.2013A>T (p.Gln671His) c.2010A>T (p.Gln670His) c.1947A>T (p.Gln649His) c.1941A>T (p.Gln647His) c.1911A>T (p.Gln637His) c.1749A>T (p.Gln583His) c.1722A>T (p.Gln574His) c.1539A>T (p.Gln513His) c.1512A>T (p.Gln504His) | |
| 7 | g.70777163C>A | CA367669856 | AUTS2 | c.61C>A (p.Gln21Lys) c.1993C>A (p.Gln665Lys) c.91C>A (p.Gln31Lys) c.328C>A (p.Gln110Lys) c.86C>A n.661C>A c.574C>A (p.Gln192Lys) c.619C>A (p.Gln207Lys) c.1990C>A (p.Gln664Lys) n.304C>A c.858C>A c.1921C>A (p.Gln641Lys) c.91C>A n.659C>A n.490C>A n.361C>A c.1249C>A (p.Gln417Lys) c.1177C>A (p.Gln393Lys) c.640C>A (p.Gln214Lys) c.2014C>A (p.Gln672Lys) c.2011C>A (p.Gln671Lys) c.1948C>A (p.Gln650Lys) c.1942C>A (p.Gln648Lys) c.1912C>A (p.Gln638Lys) c.1750C>A (p.Gln584Lys) c.1723C>A (p.Gln575Lys) c.1540C>A (p.Gln514Lys) c.1513C>A (p.Gln505Lys) | |
| 7 | g.70777163C= | CA1716145528 | AUTS2 | c.61C= (p.Gln21=) c.1993C= (p.Gln665=) c.91C= (p.Gln31=) c.328C= (p.Gln110=) c.86C= n.661C= c.574C= (p.Gln192=) c.619C= (p.Gln207=) c.1990C= (p.Gln664=) n.304C= c.858C= c.1921C= (p.Gln641=) c.91C= n.659C= n.490C= n.361C= c.1249C= (p.Gln417=) c.1177C= (p.Gln393=) c.640C= (p.Gln214=) c.2014C= (p.Gln672=) c.2011C= (p.Gln671=) c.1948C= (p.Gln650=) c.1942C= (p.Gln648=) c.1912C= (p.Gln638=) c.1750C= (p.Gln584=) c.1723C= (p.Gln575=) c.1540C= (p.Gln514=) c.1513C= (p.Gln505=) | |
| 7 | g.70777163C>G | CA367669855 | AUTS2 | c.61C>G (p.Gln21Glu) c.1993C>G (p.Gln665Glu) c.91C>G (p.Gln31Glu) c.328C>G (p.Gln110Glu) c.86C>G n.661C>G c.574C>G (p.Gln192Glu) c.619C>G (p.Gln207Glu) c.1990C>G (p.Gln664Glu) n.304C>G c.858C>G c.1921C>G (p.Gln641Glu) c.91C>G n.659C>G n.490C>G n.361C>G c.1249C>G (p.Gln417Glu) c.1177C>G (p.Gln393Glu) c.640C>G (p.Gln214Glu) c.2014C>G (p.Gln672Glu) c.2011C>G (p.Gln671Glu) c.1948C>G (p.Gln650Glu) c.1942C>G (p.Gln648Glu) c.1912C>G (p.Gln638Glu) c.1750C>G (p.Gln584Glu) c.1723C>G (p.Gln575Glu) c.1540C>G (p.Gln514Glu) c.1513C>G (p.Gln505Glu) | dbSNP |
| 7 | g.70777163C>T | CA367669854 | AUTS2 | c.61C>T (p.Gln21Ter) c.1993C>T (p.Gln665Ter) c.91C>T (p.Gln31Ter) c.328C>T (p.Gln110Ter) c.86C>T n.661C>T c.574C>T (p.Gln192Ter) c.619C>T (p.Gln207Ter) c.1990C>T (p.Gln664Ter) n.304C>T c.858C>T c.1921C>T (p.Gln641Ter) c.91C>T n.659C>T n.490C>T n.361C>T c.1249C>T (p.Gln417Ter) c.1177C>T (p.Gln393Ter) c.640C>T (p.Gln214Ter) c.2014C>T (p.Gln672Ter) c.2011C>T (p.Gln671Ter) c.1948C>T (p.Gln650Ter) c.1942C>T (p.Gln648Ter) c.1912C>T (p.Gln638Ter) c.1750C>T (p.Gln584Ter) c.1723C>T (p.Gln575Ter) c.1540C>T (p.Gln514Ter) c.1513C>T (p.Gln505Ter) | |
| 7 | g.70777164A>C | CA367669857 | AUTS2 | c.62A>C (p.Gln21Pro) c.1994A>C (p.Gln665Pro) c.92A>C (p.Gln31Pro) c.329A>C (p.Gln110Pro) c.87A>C n.662A>C c.575A>C (p.Gln192Pro) c.620A>C (p.Gln207Pro) c.1991A>C (p.Gln664Pro) n.305A>C c.859A>C c.1922A>C (p.Gln641Pro) c.92A>C n.660A>C n.491A>C n.362A>C c.1250A>C (p.Gln417Pro) c.1178A>C (p.Gln393Pro) c.641A>C (p.Gln214Pro) c.2015A>C (p.Gln672Pro) c.2012A>C (p.Gln671Pro) c.1949A>C (p.Gln650Pro) c.1943A>C (p.Gln648Pro) c.1913A>C (p.Gln638Pro) c.1751A>C (p.Gln584Pro) c.1724A>C (p.Gln575Pro) c.1541A>C (p.Gln514Pro) c.1514A>C (p.Gln505Pro) | |
| 7 | g.70777164A>G | CA367669858 | AUTS2 | c.62A>G (p.Gln21Arg) c.1994A>G (p.Gln665Arg) c.92A>G (p.Gln31Arg) c.329A>G (p.Gln110Arg) c.87A>G n.662A>G c.575A>G (p.Gln192Arg) c.620A>G (p.Gln207Arg) c.1991A>G (p.Gln664Arg) n.305A>G c.859A>G c.1922A>G (p.Gln641Arg) c.92A>G n.660A>G n.491A>G n.362A>G c.1250A>G (p.Gln417Arg) c.1178A>G (p.Gln393Arg) c.641A>G (p.Gln214Arg) c.2015A>G (p.Gln672Arg) c.2012A>G (p.Gln671Arg) c.1949A>G (p.Gln650Arg) c.1943A>G (p.Gln648Arg) c.1913A>G (p.Gln638Arg) c.1751A>G (p.Gln584Arg) c.1724A>G (p.Gln575Arg) c.1541A>G (p.Gln514Arg) c.1514A>G (p.Gln505Arg) | gnomAD v4 |
| 7 | g.70777164A>T | CA367669859 | AUTS2 | c.62A>T (p.Gln21Leu) c.1994A>T (p.Gln665Leu) c.92A>T (p.Gln31Leu) c.329A>T (p.Gln110Leu) c.87A>T n.662A>T c.575A>T (p.Gln192Leu) c.620A>T (p.Gln207Leu) c.1991A>T (p.Gln664Leu) n.305A>T c.859A>T c.1922A>T (p.Gln641Leu) c.92A>T n.660A>T n.491A>T n.362A>T c.1250A>T (p.Gln417Leu) c.1178A>T (p.Gln393Leu) c.641A>T (p.Gln214Leu) c.2015A>T (p.Gln672Leu) c.2012A>T (p.Gln671Leu) c.1949A>T (p.Gln650Leu) c.1943A>T (p.Gln648Leu) c.1913A>T (p.Gln638Leu) c.1751A>T (p.Gln584Leu) c.1724A>T (p.Gln575Leu) c.1541A>T (p.Gln514Leu) c.1514A>T (p.Gln505Leu) | |
| 7 | g.70777165_70777166del | CA2573052910 | AUTS2 | c.63_64del (p.Lys22SerfsTer?) c.1995_1996del (p.Lys666SerfsTer11) c.93_94del (p.Lys32SerfsTer?) c.330_331del (p.Lys111SerfsTer11) c.88_89del n.663_664del c.576_577del (p.Lys193SerfsTer11) c.621_622del (p.Lys208SerfsTer11) c.1992_1993del (p.Lys665SerfsTer11) n.306_307del c.860_861del c.1923_1924del (p.Lys642SerfsTer11) c.93_94del n.661_662del n.492_493del n.363_364del c.1251_1252del (p.Lys418SerfsTer11) c.1179_1180del (p.Lys394SerfsTer11) c.642_643del (p.Lys215SerfsTer11) c.2016_2017del (p.Lys673SerfsTer11) c.2013_2014del (p.Lys672SerfsTer11) c.1950_1951del (p.Lys651SerfsTer11) c.1944_1945del (p.Lys649SerfsTer11) c.1914_1915del (p.Lys639SerfsTer11) c.1752_1753del (p.Lys585SerfsTer11) c.1725_1726del (p.Lys576SerfsTer11) c.1542_1543del (p.Lys515SerfsTer11) c.1515_1516del (p.Lys506SerfsTer11) | ClinVar dbSNP |
| 7 | g.70777165G>A | CA160034313 | AUTS2 | c.63G>A (p.Gln21=) c.1995G>A (p.Gln665=) c.93G>A (p.Gln31=) c.330G>A (p.Gln110=) c.88G>A n.663G>A c.576G>A (p.Gln192=) c.621G>A (p.Gln207=) c.1992G>A (p.Gln664=) n.306G>A c.860G>A c.1923G>A (p.Gln641=) c.93G>A n.661G>A n.492G>A n.363G>A c.1251G>A (p.Gln417=) c.1179G>A (p.Gln393=) c.642G>A (p.Gln214=) c.2016G>A (p.Gln672=) c.2013G>A (p.Gln671=) c.1950G>A (p.Gln650=) c.1944G>A (p.Gln648=) c.1914G>A (p.Gln638=) c.1752G>A (p.Gln584=) c.1725G>A (p.Gln575=) c.1542G>A (p.Gln514=) c.1515G>A (p.Gln505=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.70777165G>C | CA367669860 | AUTS2 | c.63G>C (p.Gln21His) c.1995G>C (p.Gln665His) c.93G>C (p.Gln31His) c.330G>C (p.Gln110His) c.88G>C n.663G>C c.576G>C (p.Gln192His) c.621G>C (p.Gln207His) c.1992G>C (p.Gln664His) n.306G>C c.860G>C c.1923G>C (p.Gln641His) c.93G>C n.661G>C n.492G>C n.363G>C c.1251G>C (p.Gln417His) c.1179G>C (p.Gln393His) c.642G>C (p.Gln214His) c.2016G>C (p.Gln672His) c.2013G>C (p.Gln671His) c.1950G>C (p.Gln650His) c.1944G>C (p.Gln648His) c.1914G>C (p.Gln638His) c.1752G>C (p.Gln584His) c.1725G>C (p.Gln575His) c.1542G>C (p.Gln514His) c.1515G>C (p.Gln505His) | |
| 7 | g.70777165G= | CA1716145536 | AUTS2 | c.63G= (p.Gln21=) c.1995G= (p.Gln665=) c.93G= (p.Gln31=) c.330G= (p.Gln110=) c.88G= n.663G= c.576G= (p.Gln192=) c.621G= (p.Gln207=) c.1992G= (p.Gln664=) n.306G= c.860G= c.1923G= (p.Gln641=) c.93G= n.661G= n.492G= n.363G= c.1251G= (p.Gln417=) c.1179G= (p.Gln393=) c.642G= (p.Gln214=) c.2016G= (p.Gln672=) c.2013G= (p.Gln671=) c.1950G= (p.Gln650=) c.1944G= (p.Gln648=) c.1914G= (p.Gln638=) c.1752G= (p.Gln584=) c.1725G= (p.Gln575=) c.1542G= (p.Gln514=) c.1515G= (p.Gln505=) |