| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.70777108A>C | CA455803104 | AUTS2 | c.6A>C (p.Pro2=) c.1938A>C (p.Pro646=) c.36A>C (p.Pro12=) c.273A>C (p.Pro91=) c.31A>C n.606A>C c.519A>C (p.Pro173=) c.564A>C (p.Pro188=) c.1935A>C (p.Pro645=) c.269A>C n.249A>C c.803A>C c.1866A>C (p.Pro622=) c.36A>C c.518A>C n.604A>C n.435A>C n.306A>C c.1194A>C (p.Pro398=) c.1122A>C (p.Pro374=) c.585A>C (p.Pro195=) c.1959A>C (p.Pro653=) c.1956A>C (p.Pro652=) c.1893A>C (p.Pro631=) c.1887A>C (p.Pro629=) c.1857A>C (p.Pro619=) c.1695A>C (p.Pro565=) c.1668A>C (p.Pro556=) c.1485A>C (p.Pro495=) c.1458A>C (p.Pro486=) | gnomAD v4 |
| 7 | g.70777108A>G | CA455803105 | AUTS2 | c.6A>G (p.Pro2=) c.1938A>G (p.Pro646=) c.36A>G (p.Pro12=) c.273A>G (p.Pro91=) c.31A>G n.606A>G c.519A>G (p.Pro173=) c.564A>G (p.Pro188=) c.1935A>G (p.Pro645=) c.269A>G n.249A>G c.803A>G c.1866A>G (p.Pro622=) c.36A>G c.518A>G n.604A>G n.435A>G n.306A>G c.1194A>G (p.Pro398=) c.1122A>G (p.Pro374=) c.585A>G (p.Pro195=) c.1959A>G (p.Pro653=) c.1956A>G (p.Pro652=) c.1893A>G (p.Pro631=) c.1887A>G (p.Pro629=) c.1857A>G (p.Pro619=) c.1695A>G (p.Pro565=) c.1668A>G (p.Pro556=) c.1485A>G (p.Pro495=) c.1458A>G (p.Pro486=) | |
| 7 | g.70777108A>T | CA455803106 | AUTS2 | c.6A>T (p.Pro2=) c.1938A>T (p.Pro646=) c.36A>T (p.Pro12=) c.273A>T (p.Pro91=) c.31A>T n.606A>T c.519A>T (p.Pro173=) c.564A>T (p.Pro188=) c.1935A>T (p.Pro645=) c.269A>T n.249A>T c.803A>T c.1866A>T (p.Pro622=) c.36A>T c.518A>T n.604A>T n.435A>T n.306A>T c.1194A>T (p.Pro398=) c.1122A>T (p.Pro374=) c.585A>T (p.Pro195=) c.1959A>T (p.Pro653=) c.1956A>T (p.Pro652=) c.1893A>T (p.Pro631=) c.1887A>T (p.Pro629=) c.1857A>T (p.Pro619=) c.1695A>T (p.Pro565=) c.1668A>T (p.Pro556=) c.1485A>T (p.Pro495=) c.1458A>T (p.Pro486=) | |
| 7 | g.70777109G>A | CA367669721 | AUTS2 | c.7G>A (p.Gly3Arg) c.1939G>A (p.Gly647Arg) c.37G>A (p.Gly13Arg) c.274G>A (p.Gly92Arg) c.32G>A n.607G>A c.520G>A (p.Gly174Arg) c.565G>A (p.Gly189Arg) c.1936G>A (p.Gly646Arg) c.270G>A n.250G>A c.804G>A c.1867G>A (p.Gly623Arg) c.37G>A c.519G>A n.605G>A n.436G>A n.307G>A c.1195G>A (p.Gly399Arg) c.1123G>A (p.Gly375Arg) c.586G>A (p.Gly196Arg) c.1960G>A (p.Gly654Arg) c.1957G>A (p.Gly653Arg) c.1894G>A (p.Gly632Arg) c.1888G>A (p.Gly630Arg) c.1858G>A (p.Gly620Arg) c.1696G>A (p.Gly566Arg) c.1669G>A (p.Gly557Arg) c.1486G>A (p.Gly496Arg) c.1459G>A (p.Gly487Arg) | |
| 7 | g.70777109G>C | CA367669722 | AUTS2 | c.7G>C (p.Gly3Arg) c.1939G>C (p.Gly647Arg) c.37G>C (p.Gly13Arg) c.274G>C (p.Gly92Arg) c.32G>C n.607G>C c.520G>C (p.Gly174Arg) c.565G>C (p.Gly189Arg) c.1936G>C (p.Gly646Arg) c.270G>C n.250G>C c.804G>C c.1867G>C (p.Gly623Arg) c.37G>C c.519G>C n.605G>C n.436G>C n.307G>C c.1195G>C (p.Gly399Arg) c.1123G>C (p.Gly375Arg) c.586G>C (p.Gly196Arg) c.1960G>C (p.Gly654Arg) c.1957G>C (p.Gly653Arg) c.1894G>C (p.Gly632Arg) c.1888G>C (p.Gly630Arg) c.1858G>C (p.Gly620Arg) c.1696G>C (p.Gly566Arg) c.1669G>C (p.Gly557Arg) c.1486G>C (p.Gly496Arg) c.1459G>C (p.Gly487Arg) | |
| 7 | g.70777109G>T | CA367669723 | AUTS2 | c.7G>T (p.Gly3Trp) c.1939G>T (p.Gly647Trp) c.37G>T (p.Gly13Trp) c.274G>T (p.Gly92Trp) c.32G>T n.607G>T c.520G>T (p.Gly174Trp) c.565G>T (p.Gly189Trp) c.1936G>T (p.Gly646Trp) c.270G>T n.250G>T c.804G>T c.1867G>T (p.Gly623Trp) c.37G>T c.519G>T n.605G>T n.436G>T n.307G>T c.1195G>T (p.Gly399Trp) c.1123G>T (p.Gly375Trp) c.586G>T (p.Gly196Trp) c.1960G>T (p.Gly654Trp) c.1957G>T (p.Gly653Trp) c.1894G>T (p.Gly632Trp) c.1888G>T (p.Gly630Trp) c.1858G>T (p.Gly620Trp) c.1696G>T (p.Gly566Trp) c.1669G>T (p.Gly557Trp) c.1486G>T (p.Gly496Trp) c.1459G>T (p.Gly487Trp) | |
| 7 | g.70777110G>A | CA367669724 | AUTS2 | c.8G>A (p.Gly3Glu) c.1940G>A (p.Gly647Glu) c.38G>A (p.Gly13Glu) c.275G>A (p.Gly92Glu) c.33G>A n.608G>A c.521G>A (p.Gly174Glu) c.566G>A (p.Gly189Glu) c.1937G>A (p.Gly646Glu) c.271G>A n.251G>A c.805G>A c.1868G>A (p.Gly623Glu) c.38G>A c.520G>A n.606G>A n.437G>A n.308G>A c.1196G>A (p.Gly399Glu) c.1124G>A (p.Gly375Glu) c.587G>A (p.Gly196Glu) c.1961G>A (p.Gly654Glu) c.1958G>A (p.Gly653Glu) c.1895G>A (p.Gly632Glu) c.1889G>A (p.Gly630Glu) c.1859G>A (p.Gly620Glu) c.1697G>A (p.Gly566Glu) c.1670G>A (p.Gly557Glu) c.1487G>A (p.Gly496Glu) c.1460G>A (p.Gly487Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.70777110G>C | CA367669725 | AUTS2 | c.8G>C (p.Gly3Ala) c.1940G>C (p.Gly647Ala) c.38G>C (p.Gly13Ala) c.275G>C (p.Gly92Ala) c.33G>C n.608G>C c.521G>C (p.Gly174Ala) c.566G>C (p.Gly189Ala) c.1937G>C (p.Gly646Ala) c.271G>C n.251G>C c.805G>C c.1868G>C (p.Gly623Ala) c.38G>C c.520G>C n.606G>C n.437G>C n.308G>C c.1196G>C (p.Gly399Ala) c.1124G>C (p.Gly375Ala) c.587G>C (p.Gly196Ala) c.1961G>C (p.Gly654Ala) c.1958G>C (p.Gly653Ala) c.1895G>C (p.Gly632Ala) c.1889G>C (p.Gly630Ala) c.1859G>C (p.Gly620Ala) c.1697G>C (p.Gly566Ala) c.1670G>C (p.Gly557Ala) c.1487G>C (p.Gly496Ala) c.1460G>C (p.Gly487Ala) | |
| 7 | g.70777110G= | CA1716145413 | AUTS2 | c.8G= (p.Gly3=) c.1940G= (p.Gly647=) c.38G= (p.Gly13=) c.275G= (p.Gly92=) c.33G= n.608G= c.521G= (p.Gly174=) c.566G= (p.Gly189=) c.1937G= (p.Gly646=) c.271G= n.251G= c.805G= c.1868G= (p.Gly623=) c.38G= c.520G= n.606G= n.437G= n.308G= c.1196G= (p.Gly399=) c.1124G= (p.Gly375=) c.587G= (p.Gly196=) c.1961G= (p.Gly654=) c.1958G= (p.Gly653=) c.1895G= (p.Gly632=) c.1889G= (p.Gly630=) c.1859G= (p.Gly620=) c.1697G= (p.Gly566=) c.1670G= (p.Gly557=) c.1487G= (p.Gly496=) c.1460G= (p.Gly487=) | |
| 7 | g.70777110G>T | CA367669726 | AUTS2 | c.8G>T (p.Gly3Val) c.1940G>T (p.Gly647Val) c.38G>T (p.Gly13Val) c.275G>T (p.Gly92Val) c.33G>T n.608G>T c.521G>T (p.Gly174Val) c.566G>T (p.Gly189Val) c.1937G>T (p.Gly646Val) c.271G>T n.251G>T c.805G>T c.1868G>T (p.Gly623Val) c.38G>T c.520G>T n.606G>T n.437G>T n.308G>T c.1196G>T (p.Gly399Val) c.1124G>T (p.Gly375Val) c.587G>T (p.Gly196Val) c.1961G>T (p.Gly654Val) c.1958G>T (p.Gly653Val) c.1895G>T (p.Gly632Val) c.1889G>T (p.Gly630Val) c.1859G>T (p.Gly620Val) c.1697G>T (p.Gly566Val) c.1670G>T (p.Gly557Val) c.1487G>T (p.Gly496Val) c.1460G>T (p.Gly487Val) | |
| 7 | g.70777111G>A | CA455803109 | AUTS2 | c.9G>A (p.Gly3=) c.1941G>A (p.Gly647=) c.39G>A (p.Gly13=) c.276G>A (p.Gly92=) c.34G>A n.609G>A c.522G>A (p.Gly174=) c.567G>A (p.Gly189=) c.1938G>A (p.Gly646=) c.272G>A n.252G>A c.806G>A c.1869G>A (p.Gly623=) c.39G>A c.521G>A n.607G>A n.438G>A n.309G>A c.1197G>A (p.Gly399=) c.1125G>A (p.Gly375=) c.588G>A (p.Gly196=) c.1962G>A (p.Gly654=) c.1959G>A (p.Gly653=) c.1896G>A (p.Gly632=) c.1890G>A (p.Gly630=) c.1860G>A (p.Gly620=) c.1698G>A (p.Gly566=) c.1671G>A (p.Gly557=) c.1488G>A (p.Gly496=) c.1461G>A (p.Gly487=) | |
| 7 | g.70777111G>C | CA455803110 | AUTS2 | c.9G>C (p.Gly3=) c.1941G>C (p.Gly647=) c.39G>C (p.Gly13=) c.276G>C (p.Gly92=) c.34G>C n.609G>C c.522G>C (p.Gly174=) c.567G>C (p.Gly189=) c.1938G>C (p.Gly646=) c.272G>C n.252G>C c.806G>C c.1869G>C (p.Gly623=) c.39G>C c.521G>C n.607G>C n.438G>C n.309G>C c.1197G>C (p.Gly399=) c.1125G>C (p.Gly375=) c.588G>C (p.Gly196=) c.1962G>C (p.Gly654=) c.1959G>C (p.Gly653=) c.1896G>C (p.Gly632=) c.1890G>C (p.Gly630=) c.1860G>C (p.Gly620=) c.1698G>C (p.Gly566=) c.1671G>C (p.Gly557=) c.1488G>C (p.Gly496=) c.1461G>C (p.Gly487=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.70777111G= | CA1716145419 | AUTS2 | c.9G= (p.Gly3=) c.1941G= (p.Gly647=) c.39G= (p.Gly13=) c.276G= (p.Gly92=) c.34G= n.609G= c.522G= (p.Gly174=) c.567G= (p.Gly189=) c.1938G= (p.Gly646=) c.272G= n.252G= c.806G= c.1869G= (p.Gly623=) c.39G= c.521G= n.607G= n.438G= n.309G= c.1197G= (p.Gly399=) c.1125G= (p.Gly375=) c.588G= (p.Gly196=) c.1962G= (p.Gly654=) c.1959G= (p.Gly653=) c.1896G= (p.Gly632=) c.1890G= (p.Gly630=) c.1860G= (p.Gly620=) c.1698G= (p.Gly566=) c.1671G= (p.Gly557=) c.1488G= (p.Gly496=) c.1461G= (p.Gly487=) | |
| 7 | g.70777111G>T | CA455803108 | AUTS2 | c.9G>T (p.Gly3=) c.1941G>T (p.Gly647=) c.39G>T (p.Gly13=) c.276G>T (p.Gly92=) c.34G>T n.609G>T c.522G>T (p.Gly174=) c.567G>T (p.Gly189=) c.1938G>T (p.Gly646=) c.272G>T n.252G>T c.806G>T c.1869G>T (p.Gly623=) c.39G>T c.521G>T n.607G>T n.438G>T n.309G>T c.1197G>T (p.Gly399=) c.1125G>T (p.Gly375=) c.588G>T (p.Gly196=) c.1962G>T (p.Gly654=) c.1959G>T (p.Gly653=) c.1896G>T (p.Gly632=) c.1890G>T (p.Gly630=) c.1860G>T (p.Gly620=) c.1698G>T (p.Gly566=) c.1671G>T (p.Gly557=) c.1488G>T (p.Gly496=) c.1461G>T (p.Gly487=) | |
| 7 | g.70777112A>C | CA367669727 | AUTS2 | c.10A>C (p.Lys4Gln) c.1942A>C (p.Lys648Gln) c.40A>C (p.Lys14Gln) c.277A>C (p.Lys93Gln) c.35A>C n.610A>C c.523A>C (p.Lys175Gln) c.568A>C (p.Lys190Gln) c.1939A>C (p.Lys647Gln) c.273A>C n.253A>C c.807A>C c.1870A>C (p.Lys624Gln) c.40A>C c.522A>C n.608A>C n.439A>C n.310A>C c.1198A>C (p.Lys400Gln) c.1126A>C (p.Lys376Gln) c.589A>C (p.Lys197Gln) c.1963A>C (p.Lys655Gln) c.1960A>C (p.Lys654Gln) c.1897A>C (p.Lys633Gln) c.1891A>C (p.Lys631Gln) c.1861A>C (p.Lys621Gln) c.1699A>C (p.Lys567Gln) c.1672A>C (p.Lys558Gln) c.1489A>C (p.Lys497Gln) c.1462A>C (p.Lys488Gln) | |
| 7 | g.70777112A>G | CA367669729 | AUTS2 | c.10A>G (p.Lys4Glu) c.1942A>G (p.Lys648Glu) c.40A>G (p.Lys14Glu) c.277A>G (p.Lys93Glu) c.35A>G n.610A>G c.523A>G (p.Lys175Glu) c.568A>G (p.Lys190Glu) c.1939A>G (p.Lys647Glu) c.273A>G n.253A>G c.807A>G c.1870A>G (p.Lys624Glu) c.40A>G c.522A>G n.608A>G n.439A>G n.310A>G c.1198A>G (p.Lys400Glu) c.1126A>G (p.Lys376Glu) c.589A>G (p.Lys197Glu) c.1963A>G (p.Lys655Glu) c.1960A>G (p.Lys654Glu) c.1897A>G (p.Lys633Glu) c.1891A>G (p.Lys631Glu) c.1861A>G (p.Lys621Glu) c.1699A>G (p.Lys567Glu) c.1672A>G (p.Lys558Glu) c.1489A>G (p.Lys497Glu) c.1462A>G (p.Lys488Glu) | |
| 7 | g.70777112A>T | CA367669728 | AUTS2 | c.10A>T (p.Lys4Ter) c.1942A>T (p.Lys648Ter) c.40A>T (p.Lys14Ter) c.277A>T (p.Lys93Ter) c.35A>T n.610A>T c.523A>T (p.Lys175Ter) c.568A>T (p.Lys190Ter) c.1939A>T (p.Lys647Ter) c.273A>T n.253A>T c.807A>T c.1870A>T (p.Lys624Ter) c.40A>T c.522A>T n.608A>T n.439A>T n.310A>T c.1198A>T (p.Lys400Ter) c.1126A>T (p.Lys376Ter) c.589A>T (p.Lys197Ter) c.1963A>T (p.Lys655Ter) c.1960A>T (p.Lys654Ter) c.1897A>T (p.Lys633Ter) c.1891A>T (p.Lys631Ter) c.1861A>T (p.Lys621Ter) c.1699A>T (p.Lys567Ter) c.1672A>T (p.Lys558Ter) c.1489A>T (p.Lys497Ter) c.1462A>T (p.Lys488Ter) | |
| 7 | g.70777113A= | CA1716145424 | AUTS2 | c.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=) | |
| 7 | g.70777113A>C | CA367669730 | AUTS2 | c.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) | |
| 7 | g.70777113A>G | CA367669731 | AUTS2 | c.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 |
| 7 | g.70777113A>T | CA367669732 | AUTS2 | c.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) | |
| 7 | g.70777114G>A | CA4280857 | AUTS2 | c.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 |
| 7 | g.70777114G>C | CA367669733 | AUTS2 | c.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 |
| 7 | g.70777114G= | CA1716145428 | AUTS2 | c.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=) | |
| 7 | g.70777114G>T | CA367669734 | AUTS2 | c.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) | |
| 7 | g.70777115T>A | CA367669735 | AUTS2 | c.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) | |
| 7 | g.70777115T>C | CA367669736 | AUTS2 | c.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) | |
| 7 | g.70777115T>G | CA367669737 | AUTS2 | c.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) | |
| 7 | g.70777116G>A | CA367669738 | AUTS2 | c.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) | |
| 7 | g.70777116G>C | CA367669739 | AUTS2 | c.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) | |
| 7 | g.70777116G>T | CA367669740 | AUTS2 | c.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) | |
| 7 | g.70777117G>A | CA367669741 | AUTS2 | c.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) | |
| 7 | g.70777117G>C | CA367669743 | AUTS2 | c.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) | |
| 7 | g.70777117G>T | CA367669742 | AUTS2 | c.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) | |
| 7 | g.70777118T>A | CA367669744 | AUTS2 | c.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) | |
| 7 | g.70777118T>C | CA367669745 | AUTS2 | c.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) | |
| 7 | g.70777118T>G | CA367669746 | AUTS2 | c.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) | |
| 7 | g.70777119G>A | CA367669747 | AUTS2 | c.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 |
| 7 | g.70777119G>C | CA367669748 | AUTS2 | c.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) | |
| 7 | g.70777119G>T | CA367669749 | AUTS2 | c.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) | |
| 7 | g.70777120T>A | CA367669750 | AUTS2 | c.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) | |
| 7 | g.70777120T>C | CA455803118 | AUTS2 | c.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=) | |
| 7 | g.70777120T>G | CA367669751 | AUTS2 | c.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) | |
| 7 | g.70777121G>A | CA367669752 | AUTS2 | c.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 |
| 7 | g.70777121G>C | CA367669753 | AUTS2 | c.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 |
| 7 | g.70777121G= | CA1716145436 | AUTS2 | c.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=) | |
| 7 | g.70777121G>T | CA367669754 | AUTS2 | c.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) | |
| 7 | g.70777122C>A | CA367669755 | AUTS2 | c.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) | |
| 7 | g.70777122C>G | CA367669756 | AUTS2 | c.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) | |
| 7 | g.70777122C>T | CA367669757 | AUTS2 | c.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) |