Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.70777113A=CA1716145424AUTS2c.11A= (p.Lys4=)
c.1943A= (p.Lys648=)
c.41A= (p.Lys14=)
c.278A= (p.Lys93=)
c.36A=
n.611A=
c.524A= (p.Lys175=)
c.569A= (p.Lys190=)
c.1940A= (p.Lys647=)
c.274A=
n.254A=
c.808A=
c.1871A= (p.Lys624=)
c.41A=
c.523A=
n.609A=
n.440A=
n.311A=
c.1199A= (p.Lys400=)
c.1127A= (p.Lys376=)
c.590A= (p.Lys197=)
c.1964A= (p.Lys655=)
c.1961A= (p.Lys654=)
c.1898A= (p.Lys633=)
c.1892A= (p.Lys631=)
c.1862A= (p.Lys621=)
c.1700A= (p.Lys567=)
c.1673A= (p.Lys558=)
c.1490A= (p.Lys497=)
c.1463A= (p.Lys488=)
7g.70777113A>CCA367669730AUTS2c.11A>C (p.Lys4Thr)
c.1943A>C (p.Lys648Thr)
c.41A>C (p.Lys14Thr)
c.278A>C (p.Lys93Thr)
c.36A>C
n.611A>C
c.524A>C (p.Lys175Thr)
c.569A>C (p.Lys190Thr)
c.1940A>C (p.Lys647Thr)
c.274A>C
n.254A>C
c.808A>C
c.1871A>C (p.Lys624Thr)
c.41A>C
c.523A>C
n.609A>C
n.440A>C
n.311A>C
c.1199A>C (p.Lys400Thr)
c.1127A>C (p.Lys376Thr)
c.590A>C (p.Lys197Thr)
c.1964A>C (p.Lys655Thr)
c.1961A>C (p.Lys654Thr)
c.1898A>C (p.Lys633Thr)
c.1892A>C (p.Lys631Thr)
c.1862A>C (p.Lys621Thr)
c.1700A>C (p.Lys567Thr)
c.1673A>C (p.Lys558Thr)
c.1490A>C (p.Lys497Thr)
c.1463A>C (p.Lys488Thr)
7g.70777113A>GCA367669731AUTS2c.11A>G (p.Lys4Arg)
c.1943A>G (p.Lys648Arg)
c.41A>G (p.Lys14Arg)
c.278A>G (p.Lys93Arg)
c.36A>G
n.611A>G
c.524A>G (p.Lys175Arg)
c.569A>G (p.Lys190Arg)
c.1940A>G (p.Lys647Arg)
c.274A>G
n.254A>G
c.808A>G
c.1871A>G (p.Lys624Arg)
c.41A>G
c.523A>G
n.609A>G
n.440A>G
n.311A>G
c.1199A>G (p.Lys400Arg)
c.1127A>G (p.Lys376Arg)
c.590A>G (p.Lys197Arg)
c.1964A>G (p.Lys655Arg)
c.1961A>G (p.Lys654Arg)
c.1898A>G (p.Lys633Arg)
c.1892A>G (p.Lys631Arg)
c.1862A>G (p.Lys621Arg)
c.1700A>G (p.Lys567Arg)
c.1673A>G (p.Lys558Arg)
c.1490A>G (p.Lys497Arg)
c.1463A>G (p.Lys488Arg)
 dbSNP
7g.70777113A>TCA367669732AUTS2c.11A>T (p.Lys4Met)
c.1943A>T (p.Lys648Met)
c.41A>T (p.Lys14Met)
c.278A>T (p.Lys93Met)
c.36A>T
n.611A>T
c.524A>T (p.Lys175Met)
c.569A>T (p.Lys190Met)
c.1940A>T (p.Lys647Met)
c.274A>T
n.254A>T
c.808A>T
c.1871A>T (p.Lys624Met)
c.41A>T
c.523A>T
n.609A>T
n.440A>T
n.311A>T
c.1199A>T (p.Lys400Met)
c.1127A>T (p.Lys376Met)
c.590A>T (p.Lys197Met)
c.1964A>T (p.Lys655Met)
c.1961A>T (p.Lys654Met)
c.1898A>T (p.Lys633Met)
c.1892A>T (p.Lys631Met)
c.1862A>T (p.Lys621Met)
c.1700A>T (p.Lys567Met)
c.1673A>T (p.Lys558Met)
c.1490A>T (p.Lys497Met)
c.1463A>T (p.Lys488Met)
7g.70777114G>ACA4280857AUTS2c.12G>A (p.Lys4=)
c.1944G>A (p.Lys648=)
c.42G>A (p.Lys14=)
c.279G>A (p.Lys93=)
c.37G>A
n.612G>A
c.525G>A (p.Lys175=)
c.570G>A (p.Lys190=)
c.1941G>A (p.Lys647=)
c.275G>A
n.255G>A
c.809G>A
c.1872G>A (p.Lys624=)
c.42G>A
c.524G>A
n.610G>A
n.441G>A
n.312G>A
c.1200G>A (p.Lys400=)
c.1128G>A (p.Lys376=)
c.591G>A (p.Lys197=)
c.1965G>A (p.Lys655=)
c.1962G>A (p.Lys654=)
c.1899G>A (p.Lys633=)
c.1893G>A (p.Lys631=)
c.1863G>A (p.Lys621=)
c.1701G>A (p.Lys567=)
c.1674G>A (p.Lys558=)
c.1491G>A (p.Lys497=)
c.1464G>A (p.Lys488=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.70777114G>CCA367669733AUTS2c.12G>C (p.Lys4Asn)
c.1944G>C (p.Lys648Asn)
c.42G>C (p.Lys14Asn)
c.279G>C (p.Lys93Asn)
c.37G>C
n.612G>C
c.525G>C (p.Lys175Asn)
c.570G>C (p.Lys190Asn)
c.1941G>C (p.Lys647Asn)
c.275G>C
n.255G>C
c.809G>C
c.1872G>C (p.Lys624Asn)
c.42G>C
c.524G>C
n.610G>C
n.441G>C
n.312G>C
c.1200G>C (p.Lys400Asn)
c.1128G>C (p.Lys376Asn)
c.591G>C (p.Lys197Asn)
c.1965G>C (p.Lys655Asn)
c.1962G>C (p.Lys654Asn)
c.1899G>C (p.Lys633Asn)
c.1893G>C (p.Lys631Asn)
c.1863G>C (p.Lys621Asn)
c.1701G>C (p.Lys567Asn)
c.1674G>C (p.Lys558Asn)
c.1491G>C (p.Lys497Asn)
c.1464G>C (p.Lys488Asn)
 ClinVar gnomAD v4
7g.70777114G=CA1716145428AUTS2c.12G= (p.Lys4=)
c.1944G= (p.Lys648=)
c.42G= (p.Lys14=)
c.279G= (p.Lys93=)
c.37G=
n.612G=
c.525G= (p.Lys175=)
c.570G= (p.Lys190=)
c.1941G= (p.Lys647=)
c.275G=
n.255G=
c.809G=
c.1872G= (p.Lys624=)
c.42G=
c.524G=
n.610G=
n.441G=
n.312G=
c.1200G= (p.Lys400=)
c.1128G= (p.Lys376=)
c.591G= (p.Lys197=)
c.1965G= (p.Lys655=)
c.1962G= (p.Lys654=)
c.1899G= (p.Lys633=)
c.1893G= (p.Lys631=)
c.1863G= (p.Lys621=)
c.1701G= (p.Lys567=)
c.1674G= (p.Lys558=)
c.1491G= (p.Lys497=)
c.1464G= (p.Lys488=)
7g.70777114G>TCA367669734AUTS2c.12G>T (p.Lys4Asn)
c.1944G>T (p.Lys648Asn)
c.42G>T (p.Lys14Asn)
c.279G>T (p.Lys93Asn)
c.37G>T
n.612G>T
c.525G>T (p.Lys175Asn)
c.570G>T (p.Lys190Asn)
c.1941G>T (p.Lys647Asn)
c.275G>T
n.255G>T
c.809G>T
c.1872G>T (p.Lys624Asn)
c.42G>T
c.524G>T
n.610G>T
n.441G>T
n.312G>T
c.1200G>T (p.Lys400Asn)
c.1128G>T (p.Lys376Asn)
c.591G>T (p.Lys197Asn)
c.1965G>T (p.Lys655Asn)
c.1962G>T (p.Lys654Asn)
c.1899G>T (p.Lys633Asn)
c.1893G>T (p.Lys631Asn)
c.1863G>T (p.Lys621Asn)
c.1701G>T (p.Lys567Asn)
c.1674G>T (p.Lys558Asn)
c.1491G>T (p.Lys497Asn)
c.1464G>T (p.Lys488Asn)
7g.70777115T>ACA367669735AUTS2c.13T>A (p.Trp5Arg)
c.1945T>A (p.Trp649Arg)
c.43T>A (p.Trp15Arg)
c.280T>A (p.Trp94Arg)
c.38T>A
n.613T>A
c.526T>A (p.Trp176Arg)
c.571T>A (p.Trp191Arg)
c.1942T>A (p.Trp648Arg)
c.276T>A
n.256T>A
c.810T>A
c.1873T>A (p.Trp625Arg)
c.43T>A
c.525T>A
n.611T>A
n.442T>A
n.313T>A
c.1201T>A (p.Trp401Arg)
c.1129T>A (p.Trp377Arg)
c.592T>A (p.Trp198Arg)
c.1966T>A (p.Trp656Arg)
c.1963T>A (p.Trp655Arg)
c.1900T>A (p.Trp634Arg)
c.1894T>A (p.Trp632Arg)
c.1864T>A (p.Trp622Arg)
c.1702T>A (p.Trp568Arg)
c.1675T>A (p.Trp559Arg)
c.1492T>A (p.Trp498Arg)
c.1465T>A (p.Trp489Arg)
7g.70777115T>CCA367669736AUTS2c.13T>C (p.Trp5Arg)
c.1945T>C (p.Trp649Arg)
c.43T>C (p.Trp15Arg)
c.280T>C (p.Trp94Arg)
c.38T>C
n.613T>C
c.526T>C (p.Trp176Arg)
c.571T>C (p.Trp191Arg)
c.1942T>C (p.Trp648Arg)
c.276T>C
n.256T>C
c.810T>C
c.1873T>C (p.Trp625Arg)
c.43T>C
c.525T>C
n.611T>C
n.442T>C
n.313T>C
c.1201T>C (p.Trp401Arg)
c.1129T>C (p.Trp377Arg)
c.592T>C (p.Trp198Arg)
c.1966T>C (p.Trp656Arg)
c.1963T>C (p.Trp655Arg)
c.1900T>C (p.Trp634Arg)
c.1894T>C (p.Trp632Arg)
c.1864T>C (p.Trp622Arg)
c.1702T>C (p.Trp568Arg)
c.1675T>C (p.Trp559Arg)
c.1492T>C (p.Trp498Arg)
c.1465T>C (p.Trp489Arg)
7g.70777115T>GCA367669737AUTS2c.13T>G (p.Trp5Gly)
c.1945T>G (p.Trp649Gly)
c.43T>G (p.Trp15Gly)
c.280T>G (p.Trp94Gly)
c.38T>G
n.613T>G
c.526T>G (p.Trp176Gly)
c.571T>G (p.Trp191Gly)
c.1942T>G (p.Trp648Gly)
c.276T>G
n.256T>G
c.810T>G
c.1873T>G (p.Trp625Gly)
c.43T>G
c.525T>G
n.611T>G
n.442T>G
n.313T>G
c.1201T>G (p.Trp401Gly)
c.1129T>G (p.Trp377Gly)
c.592T>G (p.Trp198Gly)
c.1966T>G (p.Trp656Gly)
c.1963T>G (p.Trp655Gly)
c.1900T>G (p.Trp634Gly)
c.1894T>G (p.Trp632Gly)
c.1864T>G (p.Trp622Gly)
c.1702T>G (p.Trp568Gly)
c.1675T>G (p.Trp559Gly)
c.1492T>G (p.Trp498Gly)
c.1465T>G (p.Trp489Gly)
7g.70777116G>ACA367669738AUTS2c.14G>A (p.Trp5Ter)
c.1946G>A (p.Trp649Ter)
c.44G>A (p.Trp15Ter)
c.281G>A (p.Trp94Ter)
c.39G>A
n.614G>A
c.527G>A (p.Trp176Ter)
c.572G>A (p.Trp191Ter)
c.1943G>A (p.Trp648Ter)
c.277G>A
n.257G>A
c.811G>A
c.1874G>A (p.Trp625Ter)
c.44G>A
c.526G>A
n.612G>A
n.443G>A
n.314G>A
c.1202G>A (p.Trp401Ter)
c.1130G>A (p.Trp377Ter)
c.593G>A (p.Trp198Ter)
c.1967G>A (p.Trp656Ter)
c.1964G>A (p.Trp655Ter)
c.1901G>A (p.Trp634Ter)
c.1895G>A (p.Trp632Ter)
c.1865G>A (p.Trp622Ter)
c.1703G>A (p.Trp568Ter)
c.1676G>A (p.Trp559Ter)
c.1493G>A (p.Trp498Ter)
c.1466G>A (p.Trp489Ter)
7g.70777116G>CCA367669739AUTS2c.14G>C (p.Trp5Ser)
c.1946G>C (p.Trp649Ser)
c.44G>C (p.Trp15Ser)
c.281G>C (p.Trp94Ser)
c.39G>C
n.614G>C
c.527G>C (p.Trp176Ser)
c.572G>C (p.Trp191Ser)
c.1943G>C (p.Trp648Ser)
c.277G>C
n.257G>C
c.811G>C
c.1874G>C (p.Trp625Ser)
c.44G>C
c.526G>C
n.612G>C
n.443G>C
n.314G>C
c.1202G>C (p.Trp401Ser)
c.1130G>C (p.Trp377Ser)
c.593G>C (p.Trp198Ser)
c.1967G>C (p.Trp656Ser)
c.1964G>C (p.Trp655Ser)
c.1901G>C (p.Trp634Ser)
c.1895G>C (p.Trp632Ser)
c.1865G>C (p.Trp622Ser)
c.1703G>C (p.Trp568Ser)
c.1676G>C (p.Trp559Ser)
c.1493G>C (p.Trp498Ser)
c.1466G>C (p.Trp489Ser)
7g.70777116G>TCA367669740AUTS2c.14G>T (p.Trp5Leu)
c.1946G>T (p.Trp649Leu)
c.44G>T (p.Trp15Leu)
c.281G>T (p.Trp94Leu)
c.39G>T
n.614G>T
c.527G>T (p.Trp176Leu)
c.572G>T (p.Trp191Leu)
c.1943G>T (p.Trp648Leu)
c.277G>T
n.257G>T
c.811G>T
c.1874G>T (p.Trp625Leu)
c.44G>T
c.526G>T
n.612G>T
n.443G>T
n.314G>T
c.1202G>T (p.Trp401Leu)
c.1130G>T (p.Trp377Leu)
c.593G>T (p.Trp198Leu)
c.1967G>T (p.Trp656Leu)
c.1964G>T (p.Trp655Leu)
c.1901G>T (p.Trp634Leu)
c.1895G>T (p.Trp632Leu)
c.1865G>T (p.Trp622Leu)
c.1703G>T (p.Trp568Leu)
c.1676G>T (p.Trp559Leu)
c.1493G>T (p.Trp498Leu)
c.1466G>T (p.Trp489Leu)
7g.70777117G>ACA367669741AUTS2c.15G>A (p.Trp5Ter)
c.1947G>A (p.Trp649Ter)
c.45G>A (p.Trp15Ter)
c.282G>A (p.Trp94Ter)
c.40G>A
n.615G>A
c.528G>A (p.Trp176Ter)
c.573G>A (p.Trp191Ter)
c.1944G>A (p.Trp648Ter)
c.278G>A
n.258G>A
c.812G>A
c.1875G>A (p.Trp625Ter)
c.45G>A
c.527G>A
n.613G>A
n.444G>A
n.315G>A
c.1203G>A (p.Trp401Ter)
c.1131G>A (p.Trp377Ter)
c.594G>A (p.Trp198Ter)
c.1968G>A (p.Trp656Ter)
c.1965G>A (p.Trp655Ter)
c.1902G>A (p.Trp634Ter)
c.1896G>A (p.Trp632Ter)
c.1866G>A (p.Trp622Ter)
c.1704G>A (p.Trp568Ter)
c.1677G>A (p.Trp559Ter)
c.1494G>A (p.Trp498Ter)
c.1467G>A (p.Trp489Ter)
7g.70777117G>CCA367669743AUTS2c.15G>C (p.Trp5Cys)
c.1947G>C (p.Trp649Cys)
c.45G>C (p.Trp15Cys)
c.282G>C (p.Trp94Cys)
c.40G>C
n.615G>C
c.528G>C (p.Trp176Cys)
c.573G>C (p.Trp191Cys)
c.1944G>C (p.Trp648Cys)
c.278G>C
n.258G>C
c.812G>C
c.1875G>C (p.Trp625Cys)
c.45G>C
c.527G>C
n.613G>C
n.444G>C
n.315G>C
c.1203G>C (p.Trp401Cys)
c.1131G>C (p.Trp377Cys)
c.594G>C (p.Trp198Cys)
c.1968G>C (p.Trp656Cys)
c.1965G>C (p.Trp655Cys)
c.1902G>C (p.Trp634Cys)
c.1896G>C (p.Trp632Cys)
c.1866G>C (p.Trp622Cys)
c.1704G>C (p.Trp568Cys)
c.1677G>C (p.Trp559Cys)
c.1494G>C (p.Trp498Cys)
c.1467G>C (p.Trp489Cys)
7g.70777117G>TCA367669742AUTS2c.15G>T (p.Trp5Cys)
c.1947G>T (p.Trp649Cys)
c.45G>T (p.Trp15Cys)
c.282G>T (p.Trp94Cys)
c.40G>T
n.615G>T
c.528G>T (p.Trp176Cys)
c.573G>T (p.Trp191Cys)
c.1944G>T (p.Trp648Cys)
c.278G>T
n.258G>T
c.812G>T
c.1875G>T (p.Trp625Cys)
c.45G>T
c.527G>T
n.613G>T
n.444G>T
n.315G>T
c.1203G>T (p.Trp401Cys)
c.1131G>T (p.Trp377Cys)
c.594G>T (p.Trp198Cys)
c.1968G>T (p.Trp656Cys)
c.1965G>T (p.Trp655Cys)
c.1902G>T (p.Trp634Cys)
c.1896G>T (p.Trp632Cys)
c.1866G>T (p.Trp622Cys)
c.1704G>T (p.Trp568Cys)
c.1677G>T (p.Trp559Cys)
c.1494G>T (p.Trp498Cys)
c.1467G>T (p.Trp489Cys)
7g.70777118T>ACA367669744AUTS2c.16T>A (p.Cys6Ser)
c.1948T>A (p.Cys650Ser)
c.46T>A (p.Cys16Ser)
c.283T>A (p.Cys95Ser)
c.41T>A
n.616T>A
c.529T>A (p.Cys177Ser)
c.574T>A (p.Cys192Ser)
c.1945T>A (p.Cys649Ser)
c.279T>A
n.259T>A
c.813T>A
c.1876T>A (p.Cys626Ser)
c.46T>A
c.528T>A
n.614T>A
n.445T>A
n.316T>A
c.1204T>A (p.Cys402Ser)
c.1132T>A (p.Cys378Ser)
c.595T>A (p.Cys199Ser)
c.1969T>A (p.Cys657Ser)
c.1966T>A (p.Cys656Ser)
c.1903T>A (p.Cys635Ser)
c.1897T>A (p.Cys633Ser)
c.1867T>A (p.Cys623Ser)
c.1705T>A (p.Cys569Ser)
c.1678T>A (p.Cys560Ser)
c.1495T>A (p.Cys499Ser)
c.1468T>A (p.Cys490Ser)
7g.70777118T>CCA367669745AUTS2c.16T>C (p.Cys6Arg)
c.1948T>C (p.Cys650Arg)
c.46T>C (p.Cys16Arg)
c.283T>C (p.Cys95Arg)
c.41T>C
n.616T>C
c.529T>C (p.Cys177Arg)
c.574T>C (p.Cys192Arg)
c.1945T>C (p.Cys649Arg)
c.279T>C
n.259T>C
c.813T>C
c.1876T>C (p.Cys626Arg)
c.46T>C
c.528T>C
n.614T>C
n.445T>C
n.316T>C
c.1204T>C (p.Cys402Arg)
c.1132T>C (p.Cys378Arg)
c.595T>C (p.Cys199Arg)
c.1969T>C (p.Cys657Arg)
c.1966T>C (p.Cys656Arg)
c.1903T>C (p.Cys635Arg)
c.1897T>C (p.Cys633Arg)
c.1867T>C (p.Cys623Arg)
c.1705T>C (p.Cys569Arg)
c.1678T>C (p.Cys560Arg)
c.1495T>C (p.Cys499Arg)
c.1468T>C (p.Cys490Arg)
7g.70777118T>GCA367669746AUTS2c.16T>G (p.Cys6Gly)
c.1948T>G (p.Cys650Gly)
c.46T>G (p.Cys16Gly)
c.283T>G (p.Cys95Gly)
c.41T>G
n.616T>G
c.529T>G (p.Cys177Gly)
c.574T>G (p.Cys192Gly)
c.1945T>G (p.Cys649Gly)
c.279T>G
n.259T>G
c.813T>G
c.1876T>G (p.Cys626Gly)
c.46T>G
c.528T>G
n.614T>G
n.445T>G
n.316T>G
c.1204T>G (p.Cys402Gly)
c.1132T>G (p.Cys378Gly)
c.595T>G (p.Cys199Gly)
c.1969T>G (p.Cys657Gly)
c.1966T>G (p.Cys656Gly)
c.1903T>G (p.Cys635Gly)
c.1897T>G (p.Cys633Gly)
c.1867T>G (p.Cys623Gly)
c.1705T>G (p.Cys569Gly)
c.1678T>G (p.Cys560Gly)
c.1495T>G (p.Cys499Gly)
c.1468T>G (p.Cys490Gly)
7g.70777119G>ACA367669747AUTS2c.17G>A (p.Cys6Tyr)
c.1949G>A (p.Cys650Tyr)
c.47G>A (p.Cys16Tyr)
c.284G>A (p.Cys95Tyr)
c.42G>A
n.617G>A
c.530G>A (p.Cys177Tyr)
c.575G>A (p.Cys192Tyr)
c.1946G>A (p.Cys649Tyr)
c.280G>A
n.260G>A
c.814G>A
c.1877G>A (p.Cys626Tyr)
c.47G>A
c.529G>A
n.615G>A
n.446G>A
n.317G>A
c.1205G>A (p.Cys402Tyr)
c.1133G>A (p.Cys378Tyr)
c.596G>A (p.Cys199Tyr)
c.1970G>A (p.Cys657Tyr)
c.1967G>A (p.Cys656Tyr)
c.1904G>A (p.Cys635Tyr)
c.1898G>A (p.Cys633Tyr)
c.1868G>A (p.Cys623Tyr)
c.1706G>A (p.Cys569Tyr)
c.1679G>A (p.Cys560Tyr)
c.1496G>A (p.Cys499Tyr)
c.1469G>A (p.Cys490Tyr)
 gnomAD v4 COSMIC
7g.70777119G>CCA367669748AUTS2c.17G>C (p.Cys6Ser)
c.1949G>C (p.Cys650Ser)
c.47G>C (p.Cys16Ser)
c.284G>C (p.Cys95Ser)
c.42G>C
n.617G>C
c.530G>C (p.Cys177Ser)
c.575G>C (p.Cys192Ser)
c.1946G>C (p.Cys649Ser)
c.280G>C
n.260G>C
c.814G>C
c.1877G>C (p.Cys626Ser)
c.47G>C
c.529G>C
n.615G>C
n.446G>C
n.317G>C
c.1205G>C (p.Cys402Ser)
c.1133G>C (p.Cys378Ser)
c.596G>C (p.Cys199Ser)
c.1970G>C (p.Cys657Ser)
c.1967G>C (p.Cys656Ser)
c.1904G>C (p.Cys635Ser)
c.1898G>C (p.Cys633Ser)
c.1868G>C (p.Cys623Ser)
c.1706G>C (p.Cys569Ser)
c.1679G>C (p.Cys560Ser)
c.1496G>C (p.Cys499Ser)
c.1469G>C (p.Cys490Ser)
7g.70777119G>TCA367669749AUTS2c.17G>T (p.Cys6Phe)
c.1949G>T (p.Cys650Phe)
c.47G>T (p.Cys16Phe)
c.284G>T (p.Cys95Phe)
c.42G>T
n.617G>T
c.530G>T (p.Cys177Phe)
c.575G>T (p.Cys192Phe)
c.1946G>T (p.Cys649Phe)
c.280G>T
n.260G>T
c.814G>T
c.1877G>T (p.Cys626Phe)
c.47G>T
c.529G>T
n.615G>T
n.446G>T
n.317G>T
c.1205G>T (p.Cys402Phe)
c.1133G>T (p.Cys378Phe)
c.596G>T (p.Cys199Phe)
c.1970G>T (p.Cys657Phe)
c.1967G>T (p.Cys656Phe)
c.1904G>T (p.Cys635Phe)
c.1898G>T (p.Cys633Phe)
c.1868G>T (p.Cys623Phe)
c.1706G>T (p.Cys569Phe)
c.1679G>T (p.Cys560Phe)
c.1496G>T (p.Cys499Phe)
c.1469G>T (p.Cys490Phe)
7g.70777120T>ACA367669750AUTS2c.18T>A (p.Cys6Ter)
c.1950T>A (p.Cys650Ter)
c.48T>A (p.Cys16Ter)
c.285T>A (p.Cys95Ter)
c.43T>A
n.618T>A
c.531T>A (p.Cys177Ter)
c.576T>A (p.Cys192Ter)
c.1947T>A (p.Cys649Ter)
c.281T>A
n.261T>A
c.815T>A
c.1878T>A (p.Cys626Ter)
c.48T>A
c.530T>A
n.616T>A
n.447T>A
n.318T>A
c.1206T>A (p.Cys402Ter)
c.1134T>A (p.Cys378Ter)
c.597T>A (p.Cys199Ter)
c.1971T>A (p.Cys657Ter)
c.1968T>A (p.Cys656Ter)
c.1905T>A (p.Cys635Ter)
c.1899T>A (p.Cys633Ter)
c.1869T>A (p.Cys623Ter)
c.1707T>A (p.Cys569Ter)
c.1680T>A (p.Cys560Ter)
c.1497T>A (p.Cys499Ter)
c.1470T>A (p.Cys490Ter)
7g.70777120T>CCA455803118AUTS2c.18T>C (p.Cys6=)
c.1950T>C (p.Cys650=)
c.48T>C (p.Cys16=)
c.285T>C (p.Cys95=)
c.43T>C
n.618T>C
c.531T>C (p.Cys177=)
c.576T>C (p.Cys192=)
c.1947T>C (p.Cys649=)
c.281T>C
n.261T>C
c.815T>C
c.1878T>C (p.Cys626=)
c.48T>C
c.530T>C
n.616T>C
n.447T>C
n.318T>C
c.1206T>C (p.Cys402=)
c.1134T>C (p.Cys378=)
c.597T>C (p.Cys199=)
c.1971T>C (p.Cys657=)
c.1968T>C (p.Cys656=)
c.1905T>C (p.Cys635=)
c.1899T>C (p.Cys633=)
c.1869T>C (p.Cys623=)
c.1707T>C (p.Cys569=)
c.1680T>C (p.Cys560=)
c.1497T>C (p.Cys499=)
c.1470T>C (p.Cys490=)
7g.70777120T>GCA367669751AUTS2c.18T>G (p.Cys6Trp)
c.1950T>G (p.Cys650Trp)
c.48T>G (p.Cys16Trp)
c.285T>G (p.Cys95Trp)
c.43T>G
n.618T>G
c.531T>G (p.Cys177Trp)
c.576T>G (p.Cys192Trp)
c.1947T>G (p.Cys649Trp)
c.281T>G
n.261T>G
c.815T>G
c.1878T>G (p.Cys626Trp)
c.48T>G
c.530T>G
n.616T>G
n.447T>G
n.318T>G
c.1206T>G (p.Cys402Trp)
c.1134T>G (p.Cys378Trp)
c.597T>G (p.Cys199Trp)
c.1971T>G (p.Cys657Trp)
c.1968T>G (p.Cys656Trp)
c.1905T>G (p.Cys635Trp)
c.1899T>G (p.Cys633Trp)
c.1869T>G (p.Cys623Trp)
c.1707T>G (p.Cys569Trp)
c.1680T>G (p.Cys560Trp)
c.1497T>G (p.Cys499Trp)
c.1470T>G (p.Cys490Trp)
7g.70777121G>ACA367669752AUTS2c.19G>A (p.Ala7Thr)
c.1951G>A (p.Ala651Thr)
c.49G>A (p.Ala17Thr)
c.286G>A (p.Ala96Thr)
c.44G>A
n.619G>A
c.532G>A (p.Ala178Thr)
c.577G>A (p.Ala193Thr)
c.1948G>A (p.Ala650Thr)
c.282G>A
n.262G>A
c.816G>A
c.1879G>A (p.Ala627Thr)
c.49G>A
c.531G>A
n.617G>A
n.448G>A
n.319G>A
c.1207G>A (p.Ala403Thr)
c.1135G>A (p.Ala379Thr)
c.598G>A (p.Ala200Thr)
c.1972G>A (p.Ala658Thr)
c.1969G>A (p.Ala657Thr)
c.1906G>A (p.Ala636Thr)
c.1900G>A (p.Ala634Thr)
c.1870G>A (p.Ala624Thr)
c.1708G>A (p.Ala570Thr)
c.1681G>A (p.Ala561Thr)
c.1498G>A (p.Ala500Thr)
c.1471G>A (p.Ala491Thr)
 ClinVar dbSNP COSMIC
7g.70777121G>CCA367669753AUTS2c.19G>C (p.Ala7Pro)
c.1951G>C (p.Ala651Pro)
c.49G>C (p.Ala17Pro)
c.286G>C (p.Ala96Pro)
c.44G>C
n.619G>C
c.532G>C (p.Ala178Pro)
c.577G>C (p.Ala193Pro)
c.1948G>C (p.Ala650Pro)
c.282G>C
n.262G>C
c.816G>C
c.1879G>C (p.Ala627Pro)
c.49G>C
c.531G>C
n.617G>C
n.448G>C
n.319G>C
c.1207G>C (p.Ala403Pro)
c.1135G>C (p.Ala379Pro)
c.598G>C (p.Ala200Pro)
c.1972G>C (p.Ala658Pro)
c.1969G>C (p.Ala657Pro)
c.1906G>C (p.Ala636Pro)
c.1900G>C (p.Ala634Pro)
c.1870G>C (p.Ala624Pro)
c.1708G>C (p.Ala570Pro)
c.1681G>C (p.Ala561Pro)
c.1498G>C (p.Ala500Pro)
c.1471G>C (p.Ala491Pro)
 gnomAD v4
7g.70777121G=CA1716145436AUTS2c.19G= (p.Ala7=)
c.1951G= (p.Ala651=)
c.49G= (p.Ala17=)
c.286G= (p.Ala96=)
c.44G=
n.619G=
c.532G= (p.Ala178=)
c.577G= (p.Ala193=)
c.1948G= (p.Ala650=)
c.282G=
n.262G=
c.816G=
c.1879G= (p.Ala627=)
c.49G=
c.531G=
n.617G=
n.448G=
n.319G=
c.1207G= (p.Ala403=)
c.1135G= (p.Ala379=)
c.598G= (p.Ala200=)
c.1972G= (p.Ala658=)
c.1969G= (p.Ala657=)
c.1906G= (p.Ala636=)
c.1900G= (p.Ala634=)
c.1870G= (p.Ala624=)
c.1708G= (p.Ala570=)
c.1681G= (p.Ala561=)
c.1498G= (p.Ala500=)
c.1471G= (p.Ala491=)
7g.70777121G>TCA367669754AUTS2c.19G>T (p.Ala7Ser)
c.1951G>T (p.Ala651Ser)
c.49G>T (p.Ala17Ser)
c.286G>T (p.Ala96Ser)
c.44G>T
n.619G>T
c.532G>T (p.Ala178Ser)
c.577G>T (p.Ala193Ser)
c.1948G>T (p.Ala650Ser)
c.282G>T
n.262G>T
c.816G>T
c.1879G>T (p.Ala627Ser)
c.49G>T
c.531G>T
n.617G>T
n.448G>T
n.319G>T
c.1207G>T (p.Ala403Ser)
c.1135G>T (p.Ala379Ser)
c.598G>T (p.Ala200Ser)
c.1972G>T (p.Ala658Ser)
c.1969G>T (p.Ala657Ser)
c.1906G>T (p.Ala636Ser)
c.1900G>T (p.Ala634Ser)
c.1870G>T (p.Ala624Ser)
c.1708G>T (p.Ala570Ser)
c.1681G>T (p.Ala561Ser)
c.1498G>T (p.Ala500Ser)
c.1471G>T (p.Ala491Ser)
7g.70777122C>ACA367669755AUTS2c.20C>A (p.Ala7Asp)
c.1952C>A (p.Ala651Asp)
c.50C>A (p.Ala17Asp)
c.287C>A (p.Ala96Asp)
c.45C>A
n.620C>A
c.533C>A (p.Ala178Asp)
c.578C>A (p.Ala193Asp)
c.1949C>A (p.Ala650Asp)
c.283C>A
n.263C>A
c.817C>A
c.1880C>A (p.Ala627Asp)
c.50C>A
c.532C>A
n.618C>A
n.449C>A
n.320C>A
c.1208C>A (p.Ala403Asp)
c.1136C>A (p.Ala379Asp)
c.599C>A (p.Ala200Asp)
c.1973C>A (p.Ala658Asp)
c.1970C>A (p.Ala657Asp)
c.1907C>A (p.Ala636Asp)
c.1901C>A (p.Ala634Asp)
c.1871C>A (p.Ala624Asp)
c.1709C>A (p.Ala570Asp)
c.1682C>A (p.Ala561Asp)
c.1499C>A (p.Ala500Asp)
c.1472C>A (p.Ala491Asp)
7g.70777122C>GCA367669756AUTS2c.20C>G (p.Ala7Gly)
c.1952C>G (p.Ala651Gly)
c.50C>G (p.Ala17Gly)
c.287C>G (p.Ala96Gly)
c.45C>G
n.620C>G
c.533C>G (p.Ala178Gly)
c.578C>G (p.Ala193Gly)
c.1949C>G (p.Ala650Gly)
c.283C>G
n.263C>G
c.817C>G
c.1880C>G (p.Ala627Gly)
c.50C>G
c.532C>G
n.618C>G
n.449C>G
n.320C>G
c.1208C>G (p.Ala403Gly)
c.1136C>G (p.Ala379Gly)
c.599C>G (p.Ala200Gly)
c.1973C>G (p.Ala658Gly)
c.1970C>G (p.Ala657Gly)
c.1907C>G (p.Ala636Gly)
c.1901C>G (p.Ala634Gly)
c.1871C>G (p.Ala624Gly)
c.1709C>G (p.Ala570Gly)
c.1682C>G (p.Ala561Gly)
c.1499C>G (p.Ala500Gly)
c.1472C>G (p.Ala491Gly)
7g.70777122C>TCA367669757AUTS2c.20C>T (p.Ala7Val)
c.1952C>T (p.Ala651Val)
c.50C>T (p.Ala17Val)
c.287C>T (p.Ala96Val)
c.45C>T
n.620C>T
c.533C>T (p.Ala178Val)
c.578C>T (p.Ala193Val)
c.1949C>T (p.Ala650Val)
c.283C>T
n.263C>T
c.817C>T
c.1880C>T (p.Ala627Val)
c.50C>T
c.532C>T
n.618C>T
n.449C>T
n.320C>T
c.1208C>T (p.Ala403Val)
c.1136C>T (p.Ala379Val)
c.599C>T (p.Ala200Val)
c.1973C>T (p.Ala658Val)
c.1970C>T (p.Ala657Val)
c.1907C>T (p.Ala636Val)
c.1901C>T (p.Ala634Val)
c.1871C>T (p.Ala624Val)
c.1709C>T (p.Ala570Val)
c.1682C>T (p.Ala561Val)
c.1499C>T (p.Ala500Val)
c.1472C>T (p.Ala491Val)
7g.70777123T>ACA4280858AUTS2c.21T>A (p.Ala7=)
c.1953T>A (p.Ala651=)
c.51T>A (p.Ala17=)
c.288T>A (p.Ala96=)
c.46T>A
n.621T>A
c.534T>A (p.Ala178=)
c.579T>A (p.Ala193=)
c.1950T>A (p.Ala650=)
c.284T>A
n.264T>A
c.818T>A
c.1881T>A (p.Ala627=)
c.51T>A
c.533T>A
n.619T>A
n.450T>A
n.321T>A
c.1209T>A (p.Ala403=)
c.1137T>A (p.Ala379=)
c.600T>A (p.Ala200=)
c.1974T>A (p.Ala658=)
c.1971T>A (p.Ala657=)
c.1908T>A (p.Ala636=)
c.1902T>A (p.Ala634=)
c.1872T>A (p.Ala624=)
c.1710T>A (p.Ala570=)
c.1683T>A (p.Ala561=)
c.1500T>A (p.Ala500=)
c.1473T>A (p.Ala491=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.70777123T>CCA455803121AUTS2c.21T>C (p.Ala7=)
c.1953T>C (p.Ala651=)
c.51T>C (p.Ala17=)
c.288T>C (p.Ala96=)
c.46T>C
n.621T>C
c.534T>C (p.Ala178=)
c.579T>C (p.Ala193=)
c.1950T>C (p.Ala650=)
c.284T>C
n.264T>C
c.818T>C
c.1881T>C (p.Ala627=)
c.51T>C
c.533T>C
n.619T>C
n.450T>C
n.321T>C
c.1209T>C (p.Ala403=)
c.1137T>C (p.Ala379=)
c.600T>C (p.Ala200=)
c.1974T>C (p.Ala658=)
c.1971T>C (p.Ala657=)
c.1908T>C (p.Ala636=)
c.1902T>C (p.Ala634=)
c.1872T>C (p.Ala624=)
c.1710T>C (p.Ala570=)
c.1683T>C (p.Ala561=)
c.1500T>C (p.Ala500=)
c.1473T>C (p.Ala491=)
 gnomAD v4
7g.70777123T>GCA455803120AUTS2c.21T>G (p.Ala7=)
c.1953T>G (p.Ala651=)
c.51T>G (p.Ala17=)
c.288T>G (p.Ala96=)
c.46T>G
n.621T>G
c.534T>G (p.Ala178=)
c.579T>G (p.Ala193=)
c.1950T>G (p.Ala650=)
c.284T>G
n.264T>G
c.818T>G
c.1881T>G (p.Ala627=)
c.51T>G
c.533T>G
n.619T>G
n.450T>G
n.321T>G
c.1209T>G (p.Ala403=)
c.1137T>G (p.Ala379=)
c.600T>G (p.Ala200=)
c.1974T>G (p.Ala658=)
c.1971T>G (p.Ala657=)
c.1908T>G (p.Ala636=)
c.1902T>G (p.Ala634=)
c.1872T>G (p.Ala624=)
c.1710T>G (p.Ala570=)
c.1683T>G (p.Ala561=)
c.1500T>G (p.Ala500=)
c.1473T>G (p.Ala491=)
7g.70777123T=CA1716145443AUTS2c.21T= (p.Ala7=)
c.1953T= (p.Ala651=)
c.51T= (p.Ala17=)
c.288T= (p.Ala96=)
c.46T=
n.621T=
c.534T= (p.Ala178=)
c.579T= (p.Ala193=)
c.1950T= (p.Ala650=)
c.284T=
n.264T=
c.818T=
c.1881T= (p.Ala627=)
c.51T=
c.533T=
n.619T=
n.450T=
n.321T=
c.1209T= (p.Ala403=)
c.1137T= (p.Ala379=)
c.600T= (p.Ala200=)
c.1974T= (p.Ala658=)
c.1971T= (p.Ala657=)
c.1908T= (p.Ala636=)
c.1902T= (p.Ala634=)
c.1872T= (p.Ala624=)
c.1710T= (p.Ala570=)
c.1683T= (p.Ala561=)
c.1500T= (p.Ala500=)
c.1473T= (p.Ala491=)
7g.70777124A>CCA367669758AUTS2c.22A>C (p.Met8Leu)
c.1954A>C (p.Met652Leu)
c.52A>C (p.Met18Leu)
c.289A>C (p.Met97Leu)
c.47A>C
n.622A>C
c.535A>C (p.Met179Leu)
c.580A>C (p.Met194Leu)
c.1951A>C (p.Met651Leu)
c.285A>C
n.265A>C
c.819A>C
c.1882A>C (p.Met628Leu)
c.52A>C
c.534A>C
n.620A>C
n.451A>C
n.322A>C
c.1210A>C (p.Met404Leu)
c.1138A>C (p.Met380Leu)
c.601A>C (p.Met201Leu)
c.1975A>C (p.Met659Leu)
c.1972A>C (p.Met658Leu)
c.1909A>C (p.Met637Leu)
c.1903A>C (p.Met635Leu)
c.1873A>C (p.Met625Leu)
c.1711A>C (p.Met571Leu)
c.1684A>C (p.Met562Leu)
c.1501A>C (p.Met501Leu)
c.1474A>C (p.Met492Leu)
 gnomAD v4
7g.70777124A>GCA367669759AUTS2c.22A>G (p.Met8Val)
c.1954A>G (p.Met652Val)
c.52A>G (p.Met18Val)
c.289A>G (p.Met97Val)
c.47A>G
n.622A>G
c.535A>G (p.Met179Val)
c.580A>G (p.Met194Val)
c.1951A>G (p.Met651Val)
c.285A>G
n.265A>G
c.819A>G
c.1882A>G (p.Met628Val)
c.52A>G
c.534A>G
n.620A>G
n.451A>G
n.322A>G
c.1210A>G (p.Met404Val)
c.1138A>G (p.Met380Val)
c.601A>G (p.Met201Val)
c.1975A>G (p.Met659Val)
c.1972A>G (p.Met658Val)
c.1909A>G (p.Met637Val)
c.1903A>G (p.Met635Val)
c.1873A>G (p.Met625Val)
c.1711A>G (p.Met571Val)
c.1684A>G (p.Met562Val)
c.1501A>G (p.Met501Val)
c.1474A>G (p.Met492Val)
 gnomAD v4
7g.70777124A>TCA367669760AUTS2c.22A>T (p.Met8Leu)
c.1954A>T (p.Met652Leu)
c.52A>T (p.Met18Leu)
c.289A>T (p.Met97Leu)
c.47A>T
n.622A>T
c.535A>T (p.Met179Leu)
c.580A>T (p.Met194Leu)
c.1951A>T (p.Met651Leu)
c.285A>T
n.265A>T
c.819A>T
c.1882A>T (p.Met628Leu)
c.52A>T
c.534A>T
n.620A>T
n.451A>T
n.322A>T
c.1210A>T (p.Met404Leu)
c.1138A>T (p.Met380Leu)
c.601A>T (p.Met201Leu)
c.1975A>T (p.Met659Leu)
c.1972A>T (p.Met658Leu)
c.1909A>T (p.Met637Leu)
c.1903A>T (p.Met635Leu)
c.1873A>T (p.Met625Leu)
c.1711A>T (p.Met571Leu)
c.1684A>T (p.Met562Leu)
c.1501A>T (p.Met501Leu)
c.1474A>T (p.Met492Leu)
7g.70777125T>ACA367669761AUTS2c.23T>A (p.Met8Lys)
c.1955T>A (p.Met652Lys)
c.53T>A (p.Met18Lys)
c.290T>A (p.Met97Lys)
c.48T>A
n.623T>A
c.536T>A (p.Met179Lys)
c.581T>A (p.Met194Lys)
c.1952T>A (p.Met651Lys)
c.286T>A
n.266T>A
c.820T>A
c.1883T>A (p.Met628Lys)
c.53T>A
c.535T>A
n.621T>A
n.452T>A
n.323T>A
c.1211T>A (p.Met404Lys)
c.1139T>A (p.Met380Lys)
c.602T>A (p.Met201Lys)
c.1976T>A (p.Met659Lys)
c.1973T>A (p.Met658Lys)
c.1910T>A (p.Met637Lys)
c.1904T>A (p.Met635Lys)
c.1874T>A (p.Met625Lys)
c.1712T>A (p.Met571Lys)
c.1685T>A (p.Met562Lys)
c.1502T>A (p.Met501Lys)
c.1475T>A (p.Met492Lys)
7g.70777125T>CCA367669762AUTS2c.23T>C (p.Met8Thr)
c.1955T>C (p.Met652Thr)
c.53T>C (p.Met18Thr)
c.290T>C (p.Met97Thr)
c.48T>C
n.623T>C
c.536T>C (p.Met179Thr)
c.581T>C (p.Met194Thr)
c.1952T>C (p.Met651Thr)
c.286T>C
n.266T>C
c.820T>C
c.1883T>C (p.Met628Thr)
c.53T>C
c.535T>C
n.621T>C
n.452T>C
n.323T>C
c.1211T>C (p.Met404Thr)
c.1139T>C (p.Met380Thr)
c.602T>C (p.Met201Thr)
c.1976T>C (p.Met659Thr)
c.1973T>C (p.Met658Thr)
c.1910T>C (p.Met637Thr)
c.1904T>C (p.Met635Thr)
c.1874T>C (p.Met625Thr)
c.1712T>C (p.Met571Thr)
c.1685T>C (p.Met562Thr)
c.1502T>C (p.Met501Thr)
c.1475T>C (p.Met492Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.70777125T>GCA367669763AUTS2c.23T>G (p.Met8Arg)
c.1955T>G (p.Met652Arg)
c.53T>G (p.Met18Arg)
c.290T>G (p.Met97Arg)
c.48T>G
n.623T>G
c.536T>G (p.Met179Arg)
c.581T>G (p.Met194Arg)
c.1952T>G (p.Met651Arg)
c.286T>G
n.266T>G
c.820T>G
c.1883T>G (p.Met628Arg)
c.53T>G
c.535T>G
n.621T>G
n.452T>G
n.323T>G
c.1211T>G (p.Met404Arg)
c.1139T>G (p.Met380Arg)
c.602T>G (p.Met201Arg)
c.1976T>G (p.Met659Arg)
c.1973T>G (p.Met658Arg)
c.1910T>G (p.Met637Arg)
c.1904T>G (p.Met635Arg)
c.1874T>G (p.Met625Arg)
c.1712T>G (p.Met571Arg)
c.1685T>G (p.Met562Arg)
c.1502T>G (p.Met501Arg)
c.1475T>G (p.Met492Arg)
7g.70777125T=CA1716145444AUTS2c.23T= (p.Met8=)
c.1955T= (p.Met652=)
c.53T= (p.Met18=)
c.290T= (p.Met97=)
c.48T=
n.623T=
c.536T= (p.Met179=)
c.581T= (p.Met194=)
c.1952T= (p.Met651=)
c.286T=
n.266T=
c.820T=
c.1883T= (p.Met628=)
c.53T=
c.535T=
n.621T=
n.452T=
n.323T=
c.1211T= (p.Met404=)
c.1139T= (p.Met380=)
c.602T= (p.Met201=)
c.1976T= (p.Met659=)
c.1973T= (p.Met658=)
c.1910T= (p.Met637=)
c.1904T= (p.Met635=)
c.1874T= (p.Met625=)
c.1712T= (p.Met571=)
c.1685T= (p.Met562=)
c.1502T= (p.Met501=)
c.1475T= (p.Met492=)
7g.70777126G>ACA367669764AUTS2c.24G>A (p.Met8Ile)
c.1956G>A (p.Met652Ile)
c.54G>A (p.Met18Ile)
c.291G>A (p.Met97Ile)
c.49G>A
n.624G>A
c.537G>A (p.Met179Ile)
c.582G>A (p.Met194Ile)
c.1953G>A (p.Met651Ile)
c.287G>A
n.267G>A
c.821G>A
c.1884G>A (p.Met628Ile)
c.54G>A
c.536G>A
n.622G>A
n.453G>A
n.324G>A
c.1212G>A (p.Met404Ile)
c.1140G>A (p.Met380Ile)
c.603G>A (p.Met201Ile)
c.1977G>A (p.Met659Ile)
c.1974G>A (p.Met658Ile)
c.1911G>A (p.Met637Ile)
c.1905G>A (p.Met635Ile)
c.1875G>A (p.Met625Ile)
c.1713G>A (p.Met571Ile)
c.1686G>A (p.Met562Ile)
c.1503G>A (p.Met501Ile)
c.1476G>A (p.Met492Ile)
7g.70777126G>CCA4280859AUTS2c.24G>C (p.Met8Ile)
c.1956G>C (p.Met652Ile)
c.54G>C (p.Met18Ile)
c.291G>C (p.Met97Ile)
c.49G>C
n.624G>C
c.537G>C (p.Met179Ile)
c.582G>C (p.Met194Ile)
c.1953G>C (p.Met651Ile)
c.287G>C
n.267G>C
c.821G>C
c.1884G>C (p.Met628Ile)
c.54G>C
c.536G>C
n.622G>C
n.453G>C
n.324G>C
c.1212G>C (p.Met404Ile)
c.1140G>C (p.Met380Ile)
c.603G>C (p.Met201Ile)
c.1977G>C (p.Met659Ile)
c.1974G>C (p.Met658Ile)
c.1911G>C (p.Met637Ile)
c.1905G>C (p.Met635Ile)
c.1875G>C (p.Met625Ile)
c.1713G>C (p.Met571Ile)
c.1686G>C (p.Met562Ile)
c.1503G>C (p.Met501Ile)
c.1476G>C (p.Met492Ile)
 dbSNP ExAC gnomAD v2
7g.70777126G=CA1716145453AUTS2c.24G= (p.Met8=)
c.1956G= (p.Met652=)
c.54G= (p.Met18=)
c.291G= (p.Met97=)
c.49G=
n.624G=
c.537G= (p.Met179=)
c.582G= (p.Met194=)
c.1953G= (p.Met651=)
c.287G=
n.267G=
c.821G=
c.1884G= (p.Met628=)
c.54G=
c.536G=
n.622G=
n.453G=
n.324G=
c.1212G= (p.Met404=)
c.1140G= (p.Met380=)
c.603G= (p.Met201=)
c.1977G= (p.Met659=)
c.1974G= (p.Met658=)
c.1911G= (p.Met637=)
c.1905G= (p.Met635=)
c.1875G= (p.Met625=)
c.1713G= (p.Met571=)
c.1686G= (p.Met562=)
c.1503G= (p.Met501=)
c.1476G= (p.Met492=)
7g.70777126G>TCA367669765AUTS2c.24G>T (p.Met8Ile)
c.1956G>T (p.Met652Ile)
c.54G>T (p.Met18Ile)
c.291G>T (p.Met97Ile)
c.49G>T
n.624G>T
c.537G>T (p.Met179Ile)
c.582G>T (p.Met194Ile)
c.1953G>T (p.Met651Ile)
c.287G>T
n.267G>T
c.821G>T
c.1884G>T (p.Met628Ile)
c.54G>T
c.536G>T
n.622G>T
n.453G>T
n.324G>T
c.1212G>T (p.Met404Ile)
c.1140G>T (p.Met380Ile)
c.603G>T (p.Met201Ile)
c.1977G>T (p.Met659Ile)
c.1974G>T (p.Met658Ile)
c.1911G>T (p.Met637Ile)
c.1905G>T (p.Met635Ile)
c.1875G>T (p.Met625Ile)
c.1713G>T (p.Met571Ile)
c.1686G>T (p.Met562Ile)
c.1503G>T (p.Met501Ile)
c.1476G>T (p.Met492Ile)
 gnomAD v4
7g.70777127C>ACA367669766AUTS2c.25C>A (p.His9Asn)
c.1957C>A (p.His653Asn)
c.55C>A (p.His19Asn)
c.292C>A (p.His98Asn)
c.50C>A
n.625C>A
c.538C>A (p.His180Asn)
c.583C>A (p.His195Asn)
c.1954C>A (p.His652Asn)
c.288C>A
n.268C>A
c.822C>A
c.1885C>A (p.His629Asn)
c.55C>A
c.537C>A
n.623C>A
n.454C>A
n.325C>A
c.1213C>A (p.His405Asn)
c.1141C>A (p.His381Asn)
c.604C>A (p.His202Asn)
c.1978C>A (p.His660Asn)
c.1975C>A (p.His659Asn)
c.1912C>A (p.His638Asn)
c.1906C>A (p.His636Asn)
c.1876C>A (p.His626Asn)
c.1714C>A (p.His572Asn)
c.1687C>A (p.His563Asn)
c.1504C>A (p.His502Asn)
c.1477C>A (p.His493Asn)
7g.70777127C>GCA367669767AUTS2c.25C>G (p.His9Asp)
c.1957C>G (p.His653Asp)
c.55C>G (p.His19Asp)
c.292C>G (p.His98Asp)
c.50C>G
n.625C>G
c.538C>G (p.His180Asp)
c.583C>G (p.His195Asp)
c.1954C>G (p.His652Asp)
c.288C>G
n.268C>G
c.822C>G
c.1885C>G (p.His629Asp)
c.55C>G
c.537C>G
n.623C>G
n.454C>G
n.325C>G
c.1213C>G (p.His405Asp)
c.1141C>G (p.His381Asp)
c.604C>G (p.His202Asp)
c.1978C>G (p.His660Asp)
c.1975C>G (p.His659Asp)
c.1912C>G (p.His638Asp)
c.1906C>G (p.His636Asp)
c.1876C>G (p.His626Asp)
c.1714C>G (p.His572Asp)
c.1687C>G (p.His563Asp)
c.1504C>G (p.His502Asp)
c.1477C>G (p.His493Asp)

Number of alleles fetched