Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.71211123del | CA2687599336 | EYA1 | c.1698+35del (n.1698+35del) c.1596+35del (n.1596+35del) c.1593+35del (n.1593+35del) c.*977+35del (n.*977+35del) n.2161+35del c.*1375+35del (n.*1375+35del) c.1785+35del (n.1785+35del) c.1680+35del (n.1680+35del) n.768+35del c.1677+35del (n.1677+35del) c.1599+35del (n.1599+35del) c.1695+35del (n.1695+35del) n.2193+35del c.1332+35del (n.1332+35del) c.1769+36del (n.1769+36del) c.1784+36del (n.1784+36del) c.1683+35del (n.1683+35del) c.1697+36del (n.1697+36del) c.1694+36del (n.1694+36del) c.1634+36del (n.1634+36del) c.1598+36del (n.1598+36del) c.1346+36del (n.1346+36del) c.1770+35del (n.1770+35del) c.1782+35del (n.1782+35del) c.1767+35del (n.1767+35del) c.1635+35del (n.1635+35del) c.1347+35del (n.1347+35del) | gnomAD v4 |
8 | g.71211122_71211123del | CA2687599337 | EYA1 | c.1698+34_1698+35del (n.1698+34_1698+35del) c.1596+34_1596+35del (n.1596+34_1596+35del) c.1593+34_1593+35del (n.1593+34_1593+35del) c.*977+34_*977+35del (n.*977+34_*977+35del) n.2161+34_2161+35del c.*1375+34_*1375+35del (n.*1375+34_*1375+35del) c.1785+34_1785+35del (n.1785+34_1785+35del) c.1680+34_1680+35del (n.1680+34_1680+35del) n.768+34_768+35del c.1677+34_1677+35del (n.1677+34_1677+35del) c.1599+34_1599+35del (n.1599+34_1599+35del) c.1695+34_1695+35del (n.1695+34_1695+35del) n.2193+34_2193+35del c.1332+34_1332+35del (n.1332+34_1332+35del) c.1769+35_1769+36del (n.1769+35_1769+36del) c.1784+35_1784+36del (n.1784+35_1784+36del) c.1683+34_1683+35del (n.1683+34_1683+35del) c.1697+35_1697+36del (n.1697+35_1697+36del) c.1694+35_1694+36del (n.1694+35_1694+36del) c.1634+35_1634+36del (n.1634+35_1634+36del) c.1598+35_1598+36del (n.1598+35_1598+36del) c.1346+35_1346+36del (n.1346+35_1346+36del) c.1770+34_1770+35del (n.1770+34_1770+35del) c.1782+34_1782+35del (n.1782+34_1782+35del) c.1767+34_1767+35del (n.1767+34_1767+35del) c.1635+34_1635+35del (n.1635+34_1635+35del) c.1347+34_1347+35del (n.1347+34_1347+35del) | gnomAD v4 |
8 | g.71211123_71211124del | CA2687599338 | EYA1 | c.1698+32_1698+33del (n.1698+32_1698+33del) c.1596+32_1596+33del (n.1596+32_1596+33del) c.1593+32_1593+33del (n.1593+32_1593+33del) c.*977+32_*977+33del (n.*977+32_*977+33del) n.2161+32_2161+33del c.*1375+32_*1375+33del (n.*1375+32_*1375+33del) c.1785+32_1785+33del (n.1785+32_1785+33del) c.1680+32_1680+33del (n.1680+32_1680+33del) n.768+32_768+33del c.1677+32_1677+33del (n.1677+32_1677+33del) c.1599+32_1599+33del (n.1599+32_1599+33del) c.1695+32_1695+33del (n.1695+32_1695+33del) n.2193+32_2193+33del c.1332+32_1332+33del (n.1332+32_1332+33del) c.1769+33_1769+34del (n.1769+33_1769+34del) c.1784+33_1784+34del (n.1784+33_1784+34del) c.1683+32_1683+33del (n.1683+32_1683+33del) c.1697+33_1697+34del (n.1697+33_1697+34del) c.1694+33_1694+34del (n.1694+33_1694+34del) c.1634+33_1634+34del (n.1634+33_1634+34del) c.1598+33_1598+34del (n.1598+33_1598+34del) c.1346+33_1346+34del (n.1346+33_1346+34del) c.1770+32_1770+33del (n.1770+32_1770+33del) c.1782+32_1782+33del (n.1782+32_1782+33del) c.1767+32_1767+33del (n.1767+32_1767+33del) c.1635+32_1635+33del (n.1635+32_1635+33del) c.1347+32_1347+33del (n.1347+32_1347+33del) | gnomAD v4 |
8 | g.71211124T>G | CA2579186624 | EYA1 | c.1698+32A>C (n.1698+32A>C) c.1596+32A>C (n.1596+32A>C) c.1593+32A>C (n.1593+32A>C) c.*977+32A>C (n.*977+32A>C) n.2161+32A>C c.*1375+32A>C (n.*1375+32A>C) c.1785+32A>C (n.1785+32A>C) c.1680+32A>C (n.1680+32A>C) n.768+32A>C c.1677+32A>C (n.1677+32A>C) c.1599+32A>C (n.1599+32A>C) c.1695+32A>C (n.1695+32A>C) n.2193+32A>C c.1332+32A>C (n.1332+32A>C) c.1769+33A>C (n.1769+33A>C) c.1784+33A>C (n.1784+33A>C) c.1683+32A>C (n.1683+32A>C) c.1697+33A>C (n.1697+33A>C) c.1694+33A>C (n.1694+33A>C) c.1634+33A>C (n.1634+33A>C) c.1598+33A>C (n.1598+33A>C) c.1346+33A>C (n.1346+33A>C) c.1770+32A>C (n.1770+32A>C) c.1782+32A>C (n.1782+32A>C) c.1767+32A>C (n.1767+32A>C) c.1635+32A>C (n.1635+32A>C) c.1347+32A>C (n.1347+32A>C) | gnomAD v4 |
8 | g.71211125G>A | CA2579186625 | EYA1 | c.1698+31C>T (n.1698+31C>T) c.1596+31C>T (n.1596+31C>T) c.1593+31C>T (n.1593+31C>T) c.*977+31C>T (n.*977+31C>T) n.2161+31C>T c.*1375+31C>T (n.*1375+31C>T) c.1785+31C>T (n.1785+31C>T) c.1680+31C>T (n.1680+31C>T) n.768+31C>T c.1677+31C>T (n.1677+31C>T) c.1599+31C>T (n.1599+31C>T) c.1695+31C>T (n.1695+31C>T) n.2193+31C>T c.1332+31C>T (n.1332+31C>T) c.1769+32C>T (n.1769+32C>T) c.1784+32C>T (n.1784+32C>T) c.1683+31C>T (n.1683+31C>T) c.1697+32C>T (n.1697+32C>T) c.1694+32C>T (n.1694+32C>T) c.1634+32C>T (n.1634+32C>T) c.1598+32C>T (n.1598+32C>T) c.1346+32C>T (n.1346+32C>T) c.1770+31C>T (n.1770+31C>T) c.1782+31C>T (n.1782+31C>T) c.1767+31C>T (n.1767+31C>T) c.1635+31C>T (n.1635+31C>T) c.1347+31C>T (n.1347+31C>T) | gnomAD v4 |
8 | g.71211125G>C | CA4779386 | EYA1 | c.1698+31C>G (n.1698+31C>G) c.1596+31C>G (n.1596+31C>G) c.1593+31C>G (n.1593+31C>G) c.*977+31C>G (n.*977+31C>G) n.2161+31C>G c.*1375+31C>G (n.*1375+31C>G) c.1785+31C>G (n.1785+31C>G) c.1680+31C>G (n.1680+31C>G) n.768+31C>G c.1677+31C>G (n.1677+31C>G) c.1599+31C>G (n.1599+31C>G) c.1695+31C>G (n.1695+31C>G) n.2193+31C>G c.1332+31C>G (n.1332+31C>G) c.1769+32C>G (n.1769+32C>G) c.1784+32C>G (n.1784+32C>G) c.1683+31C>G (n.1683+31C>G) c.1697+32C>G (n.1697+32C>G) c.1694+32C>G (n.1694+32C>G) c.1634+32C>G (n.1634+32C>G) c.1598+32C>G (n.1598+32C>G) c.1346+32C>G (n.1346+32C>G) c.1770+31C>G (n.1770+31C>G) c.1782+31C>G (n.1782+31C>G) c.1767+31C>G (n.1767+31C>G) c.1635+31C>G (n.1635+31C>G) c.1347+31C>G (n.1347+31C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71211125G= | CA1792681512 | EYA1 | c.1698+31C= (n.1698+31C=) c.1596+31C= (n.1596+31C=) c.1593+31C= (n.1593+31C=) c.*977+31C= (n.*977+31C=) n.2161+31C= c.*1375+31C= (n.*1375+31C=) c.1785+31C= (n.1785+31C=) c.1680+31C= (n.1680+31C=) n.768+31C= c.1677+31C= (n.1677+31C=) c.1599+31C= (n.1599+31C=) c.1695+31C= (n.1695+31C=) n.2193+31C= c.1332+31C= (n.1332+31C=) c.1769+32C= (n.1769+32C=) c.1784+32C= (n.1784+32C=) c.1683+31C= (n.1683+31C=) c.1697+32C= (n.1697+32C=) c.1694+32C= (n.1694+32C=) c.1634+32C= (n.1634+32C=) c.1598+32C= (n.1598+32C=) c.1346+32C= (n.1346+32C=) c.1770+31C= (n.1770+31C=) c.1782+31C= (n.1782+31C=) c.1767+31C= (n.1767+31C=) c.1635+31C= (n.1635+31C=) c.1347+31C= (n.1347+31C=) | |
8 | g.71211125G>T | CA2687599339 | EYA1 | c.1698+31C>A (n.1698+31C>A) c.1596+31C>A (n.1596+31C>A) c.1593+31C>A (n.1593+31C>A) c.*977+31C>A (n.*977+31C>A) n.2161+31C>A c.*1375+31C>A (n.*1375+31C>A) c.1785+31C>A (n.1785+31C>A) c.1680+31C>A (n.1680+31C>A) n.768+31C>A c.1677+31C>A (n.1677+31C>A) c.1599+31C>A (n.1599+31C>A) c.1695+31C>A (n.1695+31C>A) n.2193+31C>A c.1332+31C>A (n.1332+31C>A) c.1769+32C>A (n.1769+32C>A) c.1784+32C>A (n.1784+32C>A) c.1683+31C>A (n.1683+31C>A) c.1697+32C>A (n.1697+32C>A) c.1694+32C>A (n.1694+32C>A) c.1634+32C>A (n.1634+32C>A) c.1598+32C>A (n.1598+32C>A) c.1346+32C>A (n.1346+32C>A) c.1770+31C>A (n.1770+31C>A) c.1782+31C>A (n.1782+31C>A) c.1767+31C>A (n.1767+31C>A) c.1635+31C>A (n.1635+31C>A) c.1347+31C>A (n.1347+31C>A) | gnomAD v4 |
8 | g.71211125_71211129del | CA2780775343 | EYA1 | c.1698+27_1698+31del (n.1698+27_1698+31del) c.1596+27_1596+31del (n.1596+27_1596+31del) c.1593+27_1593+31del (n.1593+27_1593+31del) c.*977+27_*977+31del (n.*977+27_*977+31del) n.2161+27_2161+31del c.*1375+27_*1375+31del (n.*1375+27_*1375+31del) c.1785+27_1785+31del (n.1785+27_1785+31del) c.1680+27_1680+31del (n.1680+27_1680+31del) n.768+27_768+31del c.1677+27_1677+31del (n.1677+27_1677+31del) c.1599+27_1599+31del (n.1599+27_1599+31del) c.1695+27_1695+31del (n.1695+27_1695+31del) n.2193+27_2193+31del c.1332+27_1332+31del (n.1332+27_1332+31del) c.1769+28_1769+32del (n.1769+28_1769+32del) c.1784+28_1784+32del (n.1784+28_1784+32del) c.1683+27_1683+31del (n.1683+27_1683+31del) c.1697+28_1697+32del (n.1697+28_1697+32del) c.1694+28_1694+32del (n.1694+28_1694+32del) c.1634+28_1634+32del (n.1634+28_1634+32del) c.1598+28_1598+32del (n.1598+28_1598+32del) c.1346+28_1346+32del (n.1346+28_1346+32del) c.1770+27_1770+31del (n.1770+27_1770+31del) c.1782+27_1782+31del (n.1782+27_1782+31del) c.1767+27_1767+31del (n.1767+27_1767+31del) c.1635+27_1635+31del (n.1635+27_1635+31del) c.1347+27_1347+31del (n.1347+27_1347+31del) | |
8 | g.71211127G>A | CA179207060 | EYA1 | c.1698+29C>T (n.1698+29C>T) c.1596+29C>T (n.1596+29C>T) c.1593+29C>T (n.1593+29C>T) c.*977+29C>T (n.*977+29C>T) n.2161+29C>T c.*1375+29C>T (n.*1375+29C>T) c.1785+29C>T (n.1785+29C>T) c.1680+29C>T (n.1680+29C>T) n.768+29C>T c.1677+29C>T (n.1677+29C>T) c.1599+29C>T (n.1599+29C>T) c.1695+29C>T (n.1695+29C>T) n.2193+29C>T c.1332+29C>T (n.1332+29C>T) c.1769+30C>T (n.1769+30C>T) c.1784+30C>T (n.1784+30C>T) c.1683+29C>T (n.1683+29C>T) c.1697+30C>T (n.1697+30C>T) c.1694+30C>T (n.1694+30C>T) c.1634+30C>T (n.1634+30C>T) c.1598+30C>T (n.1598+30C>T) c.1346+30C>T (n.1346+30C>T) c.1770+29C>T (n.1770+29C>T) c.1782+29C>T (n.1782+29C>T) c.1767+29C>T (n.1767+29C>T) c.1635+29C>T (n.1635+29C>T) c.1347+29C>T (n.1347+29C>T) | dbSNP gnomAD v4 |
8 | g.71211127G= | CA1792681514 | EYA1 | c.1698+29C= (n.1698+29C=) c.1596+29C= (n.1596+29C=) c.1593+29C= (n.1593+29C=) c.*977+29C= (n.*977+29C=) n.2161+29C= c.*1375+29C= (n.*1375+29C=) c.1785+29C= (n.1785+29C=) c.1680+29C= (n.1680+29C=) n.768+29C= c.1677+29C= (n.1677+29C=) c.1599+29C= (n.1599+29C=) c.1695+29C= (n.1695+29C=) n.2193+29C= c.1332+29C= (n.1332+29C=) c.1769+30C= (n.1769+30C=) c.1784+30C= (n.1784+30C=) c.1683+29C= (n.1683+29C=) c.1697+30C= (n.1697+30C=) c.1694+30C= (n.1694+30C=) c.1634+30C= (n.1634+30C=) c.1598+30C= (n.1598+30C=) c.1346+30C= (n.1346+30C=) c.1770+29C= (n.1770+29C=) c.1782+29C= (n.1782+29C=) c.1767+29C= (n.1767+29C=) c.1635+29C= (n.1635+29C=) c.1347+29C= (n.1347+29C=) | |
8 | g.71211127G>T | CA2687599340 | EYA1 | c.1698+29C>A (n.1698+29C>A) c.1596+29C>A (n.1596+29C>A) c.1593+29C>A (n.1593+29C>A) c.*977+29C>A (n.*977+29C>A) n.2161+29C>A c.*1375+29C>A (n.*1375+29C>A) c.1785+29C>A (n.1785+29C>A) c.1680+29C>A (n.1680+29C>A) n.768+29C>A c.1677+29C>A (n.1677+29C>A) c.1599+29C>A (n.1599+29C>A) c.1695+29C>A (n.1695+29C>A) n.2193+29C>A c.1332+29C>A (n.1332+29C>A) c.1769+30C>A (n.1769+30C>A) c.1784+30C>A (n.1784+30C>A) c.1683+29C>A (n.1683+29C>A) c.1697+30C>A (n.1697+30C>A) c.1694+30C>A (n.1694+30C>A) c.1634+30C>A (n.1634+30C>A) c.1598+30C>A (n.1598+30C>A) c.1346+30C>A (n.1346+30C>A) c.1770+29C>A (n.1770+29C>A) c.1782+29C>A (n.1782+29C>A) c.1767+29C>A (n.1767+29C>A) c.1635+29C>A (n.1635+29C>A) c.1347+29C>A (n.1347+29C>A) | gnomAD v4 |
8 | g.71211129C>A | CA2579186626 | EYA1 | c.1698+27G>T (n.1698+27G>T) c.1596+27G>T (n.1596+27G>T) c.1593+27G>T (n.1593+27G>T) c.*977+27G>T (n.*977+27G>T) n.2161+27G>T c.*1375+27G>T (n.*1375+27G>T) c.1785+27G>T (n.1785+27G>T) c.1680+27G>T (n.1680+27G>T) n.768+27G>T c.1677+27G>T (n.1677+27G>T) c.1599+27G>T (n.1599+27G>T) c.1695+27G>T (n.1695+27G>T) n.2193+27G>T c.1332+27G>T (n.1332+27G>T) c.1769+28G>T (n.1769+28G>T) c.1784+28G>T (n.1784+28G>T) c.1683+27G>T (n.1683+27G>T) c.1697+28G>T (n.1697+28G>T) c.1694+28G>T (n.1694+28G>T) c.1634+28G>T (n.1634+28G>T) c.1598+28G>T (n.1598+28G>T) c.1346+28G>T (n.1346+28G>T) c.1770+27G>T (n.1770+27G>T) c.1782+27G>T (n.1782+27G>T) c.1767+27G>T (n.1767+27G>T) c.1635+27G>T (n.1635+27G>T) c.1347+27G>T (n.1347+27G>T) | |
8 | g.71211129C>T | CA2687599342 | EYA1 | c.1698+27G>A (n.1698+27G>A) c.1596+27G>A (n.1596+27G>A) c.1593+27G>A (n.1593+27G>A) c.*977+27G>A (n.*977+27G>A) n.2161+27G>A c.*1375+27G>A (n.*1375+27G>A) c.1785+27G>A (n.1785+27G>A) c.1680+27G>A (n.1680+27G>A) n.768+27G>A c.1677+27G>A (n.1677+27G>A) c.1599+27G>A (n.1599+27G>A) c.1695+27G>A (n.1695+27G>A) n.2193+27G>A c.1332+27G>A (n.1332+27G>A) c.1769+28G>A (n.1769+28G>A) c.1784+28G>A (n.1784+28G>A) c.1683+27G>A (n.1683+27G>A) c.1697+28G>A (n.1697+28G>A) c.1694+28G>A (n.1694+28G>A) c.1634+28G>A (n.1634+28G>A) c.1598+28G>A (n.1598+28G>A) c.1346+28G>A (n.1346+28G>A) c.1770+27G>A (n.1770+27G>A) c.1782+27G>A (n.1782+27G>A) c.1767+27G>A (n.1767+27G>A) c.1635+27G>A (n.1635+27G>A) c.1347+27G>A (n.1347+27G>A) | gnomAD v4 |
8 | g.71211129_71211132dup | CA2687599341 | EYA1 | c.1698+24_1698+27dup (n.1698+24_1698+27dup) c.1596+24_1596+27dup (n.1596+24_1596+27dup) c.1593+24_1593+27dup (n.1593+24_1593+27dup) c.*977+24_*977+27dup (n.*977+24_*977+27dup) n.2161+24_2161+27dup c.*1375+24_*1375+27dup (n.*1375+24_*1375+27dup) c.1785+24_1785+27dup (n.1785+24_1785+27dup) c.1680+24_1680+27dup (n.1680+24_1680+27dup) n.768+24_768+27dup c.1677+24_1677+27dup (n.1677+24_1677+27dup) c.1599+24_1599+27dup (n.1599+24_1599+27dup) c.1695+24_1695+27dup (n.1695+24_1695+27dup) n.2193+24_2193+27dup c.1332+24_1332+27dup (n.1332+24_1332+27dup) c.1769+25_1769+28dup (n.1769+25_1769+28dup) c.1784+25_1784+28dup (n.1784+25_1784+28dup) c.1683+24_1683+27dup (n.1683+24_1683+27dup) c.1697+25_1697+28dup (n.1697+25_1697+28dup) c.1694+25_1694+28dup (n.1694+25_1694+28dup) c.1634+25_1634+28dup (n.1634+25_1634+28dup) c.1598+25_1598+28dup (n.1598+25_1598+28dup) c.1346+25_1346+28dup (n.1346+25_1346+28dup) c.1770+24_1770+27dup (n.1770+24_1770+27dup) c.1782+24_1782+27dup (n.1782+24_1782+27dup) c.1767+24_1767+27dup (n.1767+24_1767+27dup) c.1635+24_1635+27dup (n.1635+24_1635+27dup) c.1347+24_1347+27dup (n.1347+24_1347+27dup) | gnomAD v4 |
8 | g.71211132G>T | CA2579186627 | EYA1 | c.1698+24C>A (n.1698+24C>A) c.1596+24C>A (n.1596+24C>A) c.1593+24C>A (n.1593+24C>A) c.*977+24C>A (n.*977+24C>A) n.2161+24C>A c.*1375+24C>A (n.*1375+24C>A) c.1785+24C>A (n.1785+24C>A) c.1680+24C>A (n.1680+24C>A) n.768+24C>A c.1677+24C>A (n.1677+24C>A) c.1599+24C>A (n.1599+24C>A) c.1695+24C>A (n.1695+24C>A) n.2193+24C>A c.1332+24C>A (n.1332+24C>A) c.1769+25C>A (n.1769+25C>A) c.1784+25C>A (n.1784+25C>A) c.1683+24C>A (n.1683+24C>A) c.1697+25C>A (n.1697+25C>A) c.1694+25C>A (n.1694+25C>A) c.1634+25C>A (n.1634+25C>A) c.1598+25C>A (n.1598+25C>A) c.1346+25C>A (n.1346+25C>A) c.1770+24C>A (n.1770+24C>A) c.1782+24C>A (n.1782+24C>A) c.1767+24C>A (n.1767+24C>A) c.1635+24C>A (n.1635+24C>A) c.1347+24C>A (n.1347+24C>A) | gnomAD v4 |
8 | g.71211134T>C | CA2687599343 | EYA1 | c.1698+22A>G (n.1698+22A>G) c.1596+22A>G (n.1596+22A>G) c.1593+22A>G (n.1593+22A>G) c.*977+22A>G (n.*977+22A>G) n.2161+22A>G c.*1375+22A>G (n.*1375+22A>G) c.1785+22A>G (n.1785+22A>G) c.1680+22A>G (n.1680+22A>G) n.768+22A>G c.1677+22A>G (n.1677+22A>G) c.1599+22A>G (n.1599+22A>G) c.1695+22A>G (n.1695+22A>G) n.2193+22A>G c.1332+22A>G (n.1332+22A>G) c.1769+23A>G (n.1769+23A>G) c.1784+23A>G (n.1784+23A>G) c.1683+22A>G (n.1683+22A>G) c.1697+23A>G (n.1697+23A>G) c.1694+23A>G (n.1694+23A>G) c.1634+23A>G (n.1634+23A>G) c.1598+23A>G (n.1598+23A>G) c.1346+23A>G (n.1346+23A>G) c.1770+22A>G (n.1770+22A>G) c.1782+22A>G (n.1782+22A>G) c.1767+22A>G (n.1767+22A>G) c.1635+22A>G (n.1635+22A>G) c.1347+22A>G (n.1347+22A>G) | dbSNP gnomAD v4 |
8 | g.71211135G>A | CA2687599345 | EYA1 | c.1698+21C>T (n.1698+21C>T) c.1596+21C>T (n.1596+21C>T) c.1593+21C>T (n.1593+21C>T) c.*977+21C>T (n.*977+21C>T) n.2161+21C>T c.*1375+21C>T (n.*1375+21C>T) c.1785+21C>T (n.1785+21C>T) c.1680+21C>T (n.1680+21C>T) n.768+21C>T c.1677+21C>T (n.1677+21C>T) c.1599+21C>T (n.1599+21C>T) c.1695+21C>T (n.1695+21C>T) n.2193+21C>T c.1332+21C>T (n.1332+21C>T) c.1769+22C>T (n.1769+22C>T) c.1784+22C>T (n.1784+22C>T) c.1683+21C>T (n.1683+21C>T) c.1697+22C>T (n.1697+22C>T) c.1694+22C>T (n.1694+22C>T) c.1634+22C>T (n.1634+22C>T) c.1598+22C>T (n.1598+22C>T) c.1346+22C>T (n.1346+22C>T) c.1770+21C>T (n.1770+21C>T) c.1782+21C>T (n.1782+21C>T) c.1767+21C>T (n.1767+21C>T) c.1635+21C>T (n.1635+21C>T) c.1347+21C>T (n.1347+21C>T) | gnomAD v4 |
8 | g.71211135G>T | CA2687599344 | EYA1 | c.1698+21C>A (n.1698+21C>A) c.1596+21C>A (n.1596+21C>A) c.1593+21C>A (n.1593+21C>A) c.*977+21C>A (n.*977+21C>A) n.2161+21C>A c.*1375+21C>A (n.*1375+21C>A) c.1785+21C>A (n.1785+21C>A) c.1680+21C>A (n.1680+21C>A) n.768+21C>A c.1677+21C>A (n.1677+21C>A) c.1599+21C>A (n.1599+21C>A) c.1695+21C>A (n.1695+21C>A) n.2193+21C>A c.1332+21C>A (n.1332+21C>A) c.1769+22C>A (n.1769+22C>A) c.1784+22C>A (n.1784+22C>A) c.1683+21C>A (n.1683+21C>A) c.1697+22C>A (n.1697+22C>A) c.1694+22C>A (n.1694+22C>A) c.1634+22C>A (n.1634+22C>A) c.1598+22C>A (n.1598+22C>A) c.1346+22C>A (n.1346+22C>A) c.1770+21C>A (n.1770+21C>A) c.1782+21C>A (n.1782+21C>A) c.1767+21C>A (n.1767+21C>A) c.1635+21C>A (n.1635+21C>A) c.1347+21C>A (n.1347+21C>A) | gnomAD v4 |
8 | g.71211136C>G | CA2780775352 | EYA1 | c.1698+20G>C (n.1698+20G>C) c.1596+20G>C (n.1596+20G>C) c.1593+20G>C (n.1593+20G>C) c.*977+20G>C (n.*977+20G>C) n.2161+20G>C c.*1375+20G>C (n.*1375+20G>C) c.1785+20G>C (n.1785+20G>C) c.1680+20G>C (n.1680+20G>C) n.768+20G>C c.1677+20G>C (n.1677+20G>C) c.1599+20G>C (n.1599+20G>C) c.1695+20G>C (n.1695+20G>C) n.2193+20G>C c.1332+20G>C (n.1332+20G>C) c.1769+21G>C (n.1769+21G>C) c.1784+21G>C (n.1784+21G>C) c.1683+20G>C (n.1683+20G>C) c.1697+21G>C (n.1697+21G>C) c.1694+21G>C (n.1694+21G>C) c.1634+21G>C (n.1634+21G>C) c.1598+21G>C (n.1598+21G>C) c.1346+21G>C (n.1346+21G>C) c.1770+20G>C (n.1770+20G>C) c.1782+20G>C (n.1782+20G>C) c.1767+20G>C (n.1767+20G>C) c.1635+20G>C (n.1635+20G>C) c.1347+20G>C (n.1347+20G>C) | |
8 | g.71211136C>T | CA2687599346 | EYA1 | c.1698+20G>A (n.1698+20G>A) c.1596+20G>A (n.1596+20G>A) c.1593+20G>A (n.1593+20G>A) c.*977+20G>A (n.*977+20G>A) n.2161+20G>A c.*1375+20G>A (n.*1375+20G>A) c.1785+20G>A (n.1785+20G>A) c.1680+20G>A (n.1680+20G>A) n.768+20G>A c.1677+20G>A (n.1677+20G>A) c.1599+20G>A (n.1599+20G>A) c.1695+20G>A (n.1695+20G>A) n.2193+20G>A c.1332+20G>A (n.1332+20G>A) c.1769+21G>A (n.1769+21G>A) c.1784+21G>A (n.1784+21G>A) c.1683+20G>A (n.1683+20G>A) c.1697+21G>A (n.1697+21G>A) c.1694+21G>A (n.1694+21G>A) c.1634+21G>A (n.1634+21G>A) c.1598+21G>A (n.1598+21G>A) c.1346+21G>A (n.1346+21G>A) c.1770+20G>A (n.1770+20G>A) c.1782+20G>A (n.1782+20G>A) c.1767+20G>A (n.1767+20G>A) c.1635+20G>A (n.1635+20G>A) c.1347+20G>A (n.1347+20G>A) | gnomAD v4 |
8 | g.71211137A= | CA1792681516 | EYA1 | c.1698+19T= (n.1698+19T=) c.1596+19T= (n.1596+19T=) c.1593+19T= (n.1593+19T=) c.*977+19T= (n.*977+19T=) n.2161+19T= c.*1375+19T= (n.*1375+19T=) c.1785+19T= (n.1785+19T=) c.1680+19T= (n.1680+19T=) n.768+19T= c.1677+19T= (n.1677+19T=) c.1599+19T= (n.1599+19T=) c.1695+19T= (n.1695+19T=) n.2193+19T= c.1332+19T= (n.1332+19T=) c.1769+20T= (n.1769+20T=) c.1784+20T= (n.1784+20T=) c.1683+19T= (n.1683+19T=) c.1697+20T= (n.1697+20T=) c.1694+20T= (n.1694+20T=) c.1634+20T= (n.1634+20T=) c.1598+20T= (n.1598+20T=) c.1346+20T= (n.1346+20T=) c.1770+19T= (n.1770+19T=) c.1782+19T= (n.1782+19T=) c.1767+19T= (n.1767+19T=) c.1635+19T= (n.1635+19T=) c.1347+19T= (n.1347+19T=) | |
8 | g.71211137A>G | CA582529657 | EYA1 | c.1698+19T>C (n.1698+19T>C) c.1596+19T>C (n.1596+19T>C) c.1593+19T>C (n.1593+19T>C) c.*977+19T>C (n.*977+19T>C) n.2161+19T>C c.*1375+19T>C (n.*1375+19T>C) c.1785+19T>C (n.1785+19T>C) c.1680+19T>C (n.1680+19T>C) n.768+19T>C c.1677+19T>C (n.1677+19T>C) c.1599+19T>C (n.1599+19T>C) c.1695+19T>C (n.1695+19T>C) n.2193+19T>C c.1332+19T>C (n.1332+19T>C) c.1769+20T>C (n.1769+20T>C) c.1784+20T>C (n.1784+20T>C) c.1683+19T>C (n.1683+19T>C) c.1697+20T>C (n.1697+20T>C) c.1694+20T>C (n.1694+20T>C) c.1634+20T>C (n.1634+20T>C) c.1598+20T>C (n.1598+20T>C) c.1346+20T>C (n.1346+20T>C) c.1770+19T>C (n.1770+19T>C) c.1782+19T>C (n.1782+19T>C) c.1767+19T>C (n.1767+19T>C) c.1635+19T>C (n.1635+19T>C) c.1347+19T>C (n.1347+19T>C) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.71211138C>A | CA582529658 | EYA1 | c.1698+18G>T (n.1698+18G>T) c.1596+18G>T (n.1596+18G>T) c.1593+18G>T (n.1593+18G>T) c.*977+18G>T (n.*977+18G>T) n.2161+18G>T c.*1375+18G>T (n.*1375+18G>T) c.1785+18G>T (n.1785+18G>T) c.1680+18G>T (n.1680+18G>T) n.768+18G>T c.1677+18G>T (n.1677+18G>T) c.1599+18G>T (n.1599+18G>T) c.1695+18G>T (n.1695+18G>T) n.2193+18G>T c.1332+18G>T (n.1332+18G>T) c.1769+19G>T (n.1769+19G>T) c.1784+19G>T (n.1784+19G>T) c.1683+18G>T (n.1683+18G>T) c.1697+19G>T (n.1697+19G>T) c.1694+19G>T (n.1694+19G>T) c.1634+19G>T (n.1634+19G>T) c.1598+19G>T (n.1598+19G>T) c.1346+19G>T (n.1346+19G>T) c.1770+18G>T (n.1770+18G>T) c.1782+18G>T (n.1782+18G>T) c.1767+18G>T (n.1767+18G>T) c.1635+18G>T (n.1635+18G>T) c.1347+18G>T (n.1347+18G>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.71211138C= | CA1792681517 | EYA1 | c.1698+18G= (n.1698+18G=) c.1596+18G= (n.1596+18G=) c.1593+18G= (n.1593+18G=) c.*977+18G= (n.*977+18G=) n.2161+18G= c.*1375+18G= (n.*1375+18G=) c.1785+18G= (n.1785+18G=) c.1680+18G= (n.1680+18G=) n.768+18G= c.1677+18G= (n.1677+18G=) c.1599+18G= (n.1599+18G=) c.1695+18G= (n.1695+18G=) n.2193+18G= c.1332+18G= (n.1332+18G=) c.1769+19G= (n.1769+19G=) c.1784+19G= (n.1784+19G=) c.1683+18G= (n.1683+18G=) c.1697+19G= (n.1697+19G=) c.1694+19G= (n.1694+19G=) c.1634+19G= (n.1634+19G=) c.1598+19G= (n.1598+19G=) c.1346+19G= (n.1346+19G=) c.1770+18G= (n.1770+18G=) c.1782+18G= (n.1782+18G=) c.1767+18G= (n.1767+18G=) c.1635+18G= (n.1635+18G=) c.1347+18G= (n.1347+18G=) | |
8 | g.71211139C= | CA1792681518 | EYA1 | c.1698+17G= (n.1698+17G=) c.1596+17G= (n.1596+17G=) c.1593+17G= (n.1593+17G=) c.*977+17G= (n.*977+17G=) n.2161+17G= c.*1375+17G= (n.*1375+17G=) c.1785+17G= (n.1785+17G=) c.1680+17G= (n.1680+17G=) n.768+17G= c.1677+17G= (n.1677+17G=) c.1599+17G= (n.1599+17G=) c.1695+17G= (n.1695+17G=) n.2193+17G= c.1332+17G= (n.1332+17G=) c.1769+18G= (n.1769+18G=) c.1784+18G= (n.1784+18G=) c.1683+17G= (n.1683+17G=) c.1697+18G= (n.1697+18G=) c.1694+18G= (n.1694+18G=) c.1634+18G= (n.1634+18G=) c.1598+18G= (n.1598+18G=) c.1346+18G= (n.1346+18G=) c.1770+17G= (n.1770+17G=) c.1782+17G= (n.1782+17G=) c.1767+17G= (n.1767+17G=) c.1635+17G= (n.1635+17G=) c.1347+17G= (n.1347+17G=) | |
8 | g.71211139C>T | CA582529659 | EYA1 | c.1698+17G>A (n.1698+17G>A) c.1596+17G>A (n.1596+17G>A) c.1593+17G>A (n.1593+17G>A) c.*977+17G>A (n.*977+17G>A) n.2161+17G>A c.*1375+17G>A (n.*1375+17G>A) c.1785+17G>A (n.1785+17G>A) c.1680+17G>A (n.1680+17G>A) n.768+17G>A c.1677+17G>A (n.1677+17G>A) c.1599+17G>A (n.1599+17G>A) c.1695+17G>A (n.1695+17G>A) n.2193+17G>A c.1332+17G>A (n.1332+17G>A) c.1769+18G>A (n.1769+18G>A) c.1784+18G>A (n.1784+18G>A) c.1683+17G>A (n.1683+17G>A) c.1697+18G>A (n.1697+18G>A) c.1694+18G>A (n.1694+18G>A) c.1634+18G>A (n.1634+18G>A) c.1598+18G>A (n.1598+18G>A) c.1346+18G>A (n.1346+18G>A) c.1770+17G>A (n.1770+17G>A) c.1782+17G>A (n.1782+17G>A) c.1767+17G>A (n.1767+17G>A) c.1635+17G>A (n.1635+17G>A) c.1347+17G>A (n.1347+17G>A) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.71211140A>G | CA2687599347 | EYA1 | c.1698+16T>C (n.1698+16T>C) c.1596+16T>C (n.1596+16T>C) c.1593+16T>C (n.1593+16T>C) c.*977+16T>C (n.*977+16T>C) n.2161+16T>C c.*1375+16T>C (n.*1375+16T>C) c.1785+16T>C (n.1785+16T>C) c.1680+16T>C (n.1680+16T>C) n.768+16T>C c.1677+16T>C (n.1677+16T>C) c.1599+16T>C (n.1599+16T>C) c.1695+16T>C (n.1695+16T>C) n.2193+16T>C c.1332+16T>C (n.1332+16T>C) c.1769+17T>C (n.1769+17T>C) c.1784+17T>C (n.1784+17T>C) c.1683+16T>C (n.1683+16T>C) c.1697+17T>C (n.1697+17T>C) c.1694+17T>C (n.1694+17T>C) c.1634+17T>C (n.1634+17T>C) c.1598+17T>C (n.1598+17T>C) c.1346+17T>C (n.1346+17T>C) c.1770+16T>C (n.1770+16T>C) c.1782+16T>C (n.1782+16T>C) c.1767+16T>C (n.1767+16T>C) c.1635+16T>C (n.1635+16T>C) c.1347+16T>C (n.1347+16T>C) | gnomAD v4 |
8 | g.71211140_71211141dup | CA2579186628 | EYA1 | c.1698+15_1698+16dup (n.1698+15_1698+16dup) c.1596+15_1596+16dup (n.1596+15_1596+16dup) c.1593+15_1593+16dup (n.1593+15_1593+16dup) c.*977+15_*977+16dup (n.*977+15_*977+16dup) n.2161+15_2161+16dup c.*1375+15_*1375+16dup (n.*1375+15_*1375+16dup) c.1785+15_1785+16dup (n.1785+15_1785+16dup) c.1680+15_1680+16dup (n.1680+15_1680+16dup) n.768+15_768+16dup c.1677+15_1677+16dup (n.1677+15_1677+16dup) c.1599+15_1599+16dup (n.1599+15_1599+16dup) c.1695+15_1695+16dup (n.1695+15_1695+16dup) n.2193+15_2193+16dup c.1332+15_1332+16dup (n.1332+15_1332+16dup) c.1769+16_1769+17dup (n.1769+16_1769+17dup) c.1784+16_1784+17dup (n.1784+16_1784+17dup) c.1683+15_1683+16dup (n.1683+15_1683+16dup) c.1697+16_1697+17dup (n.1697+16_1697+17dup) c.1694+16_1694+17dup (n.1694+16_1694+17dup) c.1634+16_1634+17dup (n.1634+16_1634+17dup) c.1598+16_1598+17dup (n.1598+16_1598+17dup) c.1346+16_1346+17dup (n.1346+16_1346+17dup) c.1770+15_1770+16dup (n.1770+15_1770+16dup) c.1782+15_1782+16dup (n.1782+15_1782+16dup) c.1767+15_1767+16dup (n.1767+15_1767+16dup) c.1635+15_1635+16dup (n.1635+15_1635+16dup) c.1347+15_1347+16dup (n.1347+15_1347+16dup) | |
8 | g.71211141T>C | CA2687599348 | EYA1 | c.1698+15A>G (n.1698+15A>G) c.1596+15A>G (n.1596+15A>G) c.1593+15A>G (n.1593+15A>G) c.*977+15A>G (n.*977+15A>G) n.2161+15A>G c.*1375+15A>G (n.*1375+15A>G) c.1785+15A>G (n.1785+15A>G) c.1680+15A>G (n.1680+15A>G) n.768+15A>G c.1677+15A>G (n.1677+15A>G) c.1599+15A>G (n.1599+15A>G) c.1695+15A>G (n.1695+15A>G) n.2193+15A>G c.1332+15A>G (n.1332+15A>G) c.1769+16A>G (n.1769+16A>G) c.1784+16A>G (n.1784+16A>G) c.1683+15A>G (n.1683+15A>G) c.1697+16A>G (n.1697+16A>G) c.1694+16A>G (n.1694+16A>G) c.1634+16A>G (n.1634+16A>G) c.1598+16A>G (n.1598+16A>G) c.1346+16A>G (n.1346+16A>G) c.1770+15A>G (n.1770+15A>G) c.1782+15A>G (n.1782+15A>G) c.1767+15A>G (n.1767+15A>G) c.1635+15A>G (n.1635+15A>G) c.1347+15A>G (n.1347+15A>G) | gnomAD v4 |
8 | g.71211142C= | CA1792681522 | EYA1 | c.1698+14G= (n.1698+14G=) c.1596+14G= (n.1596+14G=) c.1593+14G= (n.1593+14G=) c.*977+14G= (n.*977+14G=) n.2161+14G= c.*1375+14G= (n.*1375+14G=) c.1785+14G= (n.1785+14G=) c.1680+14G= (n.1680+14G=) n.768+14G= c.1677+14G= (n.1677+14G=) c.1599+14G= (n.1599+14G=) c.1695+14G= (n.1695+14G=) n.2193+14G= c.1332+14G= (n.1332+14G=) c.1769+15G= (n.1769+15G=) c.1784+15G= (n.1784+15G=) c.1683+14G= (n.1683+14G=) c.1697+15G= (n.1697+15G=) c.1694+15G= (n.1694+15G=) c.1634+15G= (n.1634+15G=) c.1598+15G= (n.1598+15G=) c.1346+15G= (n.1346+15G=) c.1770+14G= (n.1770+14G=) c.1782+14G= (n.1782+14G=) c.1767+14G= (n.1767+14G=) c.1635+14G= (n.1635+14G=) c.1347+14G= (n.1347+14G=) | |
8 | g.71211142C>G | CA4779387 | EYA1 | c.1698+14G>C (n.1698+14G>C) c.1596+14G>C (n.1596+14G>C) c.1593+14G>C (n.1593+14G>C) c.*977+14G>C (n.*977+14G>C) n.2161+14G>C c.*1375+14G>C (n.*1375+14G>C) c.1785+14G>C (n.1785+14G>C) c.1680+14G>C (n.1680+14G>C) n.768+14G>C c.1677+14G>C (n.1677+14G>C) c.1599+14G>C (n.1599+14G>C) c.1695+14G>C (n.1695+14G>C) n.2193+14G>C c.1332+14G>C (n.1332+14G>C) c.1769+15G>C (n.1769+15G>C) c.1784+15G>C (n.1784+15G>C) c.1683+14G>C (n.1683+14G>C) c.1697+15G>C (n.1697+15G>C) c.1694+15G>C (n.1694+15G>C) c.1634+15G>C (n.1634+15G>C) c.1598+15G>C (n.1598+15G>C) c.1346+15G>C (n.1346+15G>C) c.1770+14G>C (n.1770+14G>C) c.1782+14G>C (n.1782+14G>C) c.1767+14G>C (n.1767+14G>C) c.1635+14G>C (n.1635+14G>C) c.1347+14G>C (n.1347+14G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71211142C>T | CA1139660594 | EYA1 | c.1698+14G>A (n.1698+14G>A) c.1596+14G>A (n.1596+14G>A) c.1593+14G>A (n.1593+14G>A) c.*977+14G>A (n.*977+14G>A) n.2161+14G>A c.*1375+14G>A (n.*1375+14G>A) c.1785+14G>A (n.1785+14G>A) c.1680+14G>A (n.1680+14G>A) n.768+14G>A c.1677+14G>A (n.1677+14G>A) c.1599+14G>A (n.1599+14G>A) c.1695+14G>A (n.1695+14G>A) n.2193+14G>A c.1332+14G>A (n.1332+14G>A) c.1769+15G>A (n.1769+15G>A) c.1784+15G>A (n.1784+15G>A) c.1683+14G>A (n.1683+14G>A) c.1697+15G>A (n.1697+15G>A) c.1694+15G>A (n.1694+15G>A) c.1634+15G>A (n.1634+15G>A) c.1598+15G>A (n.1598+15G>A) c.1346+15G>A (n.1346+15G>A) c.1770+14G>A (n.1770+14G>A) c.1782+14G>A (n.1782+14G>A) c.1767+14G>A (n.1767+14G>A) c.1635+14G>A (n.1635+14G>A) c.1347+14G>A (n.1347+14G>A) | ClinVar dbSNP gnomAD v4 |
8 | g.71211144A= | CA1792681528 | EYA1 | c.1698+12T= (n.1698+12T=) c.1596+12T= (n.1596+12T=) c.1593+12T= (n.1593+12T=) c.*977+12T= (n.*977+12T=) n.2161+12T= c.*1375+12T= (n.*1375+12T=) c.1785+12T= (n.1785+12T=) c.1680+12T= (n.1680+12T=) n.768+12T= c.1677+12T= (n.1677+12T=) c.1599+12T= (n.1599+12T=) c.1695+12T= (n.1695+12T=) n.2193+12T= c.1332+12T= (n.1332+12T=) c.1769+13T= (n.1769+13T=) c.1784+13T= (n.1784+13T=) c.1683+12T= (n.1683+12T=) c.1697+13T= (n.1697+13T=) c.1694+13T= (n.1694+13T=) c.1634+13T= (n.1634+13T=) c.1598+13T= (n.1598+13T=) c.1346+13T= (n.1346+13T=) c.1770+12T= (n.1770+12T=) c.1782+12T= (n.1782+12T=) c.1767+12T= (n.1767+12T=) c.1635+12T= (n.1635+12T=) c.1347+12T= (n.1347+12T=) | |
8 | g.71211144A>C | CA854889244 | EYA1 | c.1698+12T>G (n.1698+12T>G) c.1596+12T>G (n.1596+12T>G) c.1593+12T>G (n.1593+12T>G) c.*977+12T>G (n.*977+12T>G) n.2161+12T>G c.*1375+12T>G (n.*1375+12T>G) c.1785+12T>G (n.1785+12T>G) c.1680+12T>G (n.1680+12T>G) n.768+12T>G c.1677+12T>G (n.1677+12T>G) c.1599+12T>G (n.1599+12T>G) c.1695+12T>G (n.1695+12T>G) n.2193+12T>G c.1332+12T>G (n.1332+12T>G) c.1769+13T>G (n.1769+13T>G) c.1784+13T>G (n.1784+13T>G) c.1683+12T>G (n.1683+12T>G) c.1697+13T>G (n.1697+13T>G) c.1694+13T>G (n.1694+13T>G) c.1634+13T>G (n.1634+13T>G) c.1598+13T>G (n.1598+13T>G) c.1346+13T>G (n.1346+13T>G) c.1770+12T>G (n.1770+12T>G) c.1782+12T>G (n.1782+12T>G) c.1767+12T>G (n.1767+12T>G) c.1635+12T>G (n.1635+12T>G) c.1347+12T>G (n.1347+12T>G) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.71211145G>T | CA2687599349 | EYA1 | c.1698+11C>A (n.1698+11C>A) c.1596+11C>A (n.1596+11C>A) c.1593+11C>A (n.1593+11C>A) c.*977+11C>A (n.*977+11C>A) n.2161+11C>A c.*1375+11C>A (n.*1375+11C>A) c.1785+11C>A (n.1785+11C>A) c.1680+11C>A (n.1680+11C>A) n.768+11C>A c.1677+11C>A (n.1677+11C>A) c.1599+11C>A (n.1599+11C>A) c.1695+11C>A (n.1695+11C>A) n.2193+11C>A c.1332+11C>A (n.1332+11C>A) c.1769+12C>A (n.1769+12C>A) c.1784+12C>A (n.1784+12C>A) c.1683+11C>A (n.1683+11C>A) c.1697+12C>A (n.1697+12C>A) c.1694+12C>A (n.1694+12C>A) c.1634+12C>A (n.1634+12C>A) c.1598+12C>A (n.1598+12C>A) c.1346+12C>A (n.1346+12C>A) c.1770+11C>A (n.1770+11C>A) c.1782+11C>A (n.1782+11C>A) c.1767+11C>A (n.1767+11C>A) c.1635+11C>A (n.1635+11C>A) c.1347+11C>A (n.1347+11C>A) | gnomAD v4 |
8 | g.71211146G>A | CA2687599350 | EYA1 | c.1698+10C>T (n.1698+10C>T) c.1596+10C>T (n.1596+10C>T) c.1593+10C>T (n.1593+10C>T) c.*977+10C>T (n.*977+10C>T) n.2161+10C>T c.*1375+10C>T (n.*1375+10C>T) c.1785+10C>T (n.1785+10C>T) c.1680+10C>T (n.1680+10C>T) n.768+10C>T c.1677+10C>T (n.1677+10C>T) c.1599+10C>T (n.1599+10C>T) c.1695+10C>T (n.1695+10C>T) n.2193+10C>T c.1332+10C>T (n.1332+10C>T) c.1769+11C>T (n.1769+11C>T) c.1784+11C>T (n.1784+11C>T) c.1683+10C>T (n.1683+10C>T) c.1697+11C>T (n.1697+11C>T) c.1694+11C>T (n.1694+11C>T) c.1634+11C>T (n.1634+11C>T) c.1598+11C>T (n.1598+11C>T) c.1346+11C>T (n.1346+11C>T) c.1770+10C>T (n.1770+10C>T) c.1782+10C>T (n.1782+10C>T) c.1767+10C>T (n.1767+10C>T) c.1635+10C>T (n.1635+10C>T) c.1347+10C>T (n.1347+10C>T) | gnomAD v4 |
8 | g.71211146G>C | CA2579186629 | EYA1 | c.1698+10C>G (n.1698+10C>G) c.1596+10C>G (n.1596+10C>G) c.1593+10C>G (n.1593+10C>G) c.*977+10C>G (n.*977+10C>G) n.2161+10C>G c.*1375+10C>G (n.*1375+10C>G) c.1785+10C>G (n.1785+10C>G) c.1680+10C>G (n.1680+10C>G) n.768+10C>G c.1677+10C>G (n.1677+10C>G) c.1599+10C>G (n.1599+10C>G) c.1695+10C>G (n.1695+10C>G) n.2193+10C>G c.1332+10C>G (n.1332+10C>G) c.1769+11C>G (n.1769+11C>G) c.1784+11C>G (n.1784+11C>G) c.1683+10C>G (n.1683+10C>G) c.1697+11C>G (n.1697+11C>G) c.1694+11C>G (n.1694+11C>G) c.1634+11C>G (n.1634+11C>G) c.1598+11C>G (n.1598+11C>G) c.1346+11C>G (n.1346+11C>G) c.1770+10C>G (n.1770+10C>G) c.1782+10C>G (n.1782+10C>G) c.1767+10C>G (n.1767+10C>G) c.1635+10C>G (n.1635+10C>G) c.1347+10C>G (n.1347+10C>G) | |
8 | g.71211146G>T | CA2687599351 | EYA1 | c.1698+10C>A (n.1698+10C>A) c.1596+10C>A (n.1596+10C>A) c.1593+10C>A (n.1593+10C>A) c.*977+10C>A (n.*977+10C>A) n.2161+10C>A c.*1375+10C>A (n.*1375+10C>A) c.1785+10C>A (n.1785+10C>A) c.1680+10C>A (n.1680+10C>A) n.768+10C>A c.1677+10C>A (n.1677+10C>A) c.1599+10C>A (n.1599+10C>A) c.1695+10C>A (n.1695+10C>A) n.2193+10C>A c.1332+10C>A (n.1332+10C>A) c.1769+11C>A (n.1769+11C>A) c.1784+11C>A (n.1784+11C>A) c.1683+10C>A (n.1683+10C>A) c.1697+11C>A (n.1697+11C>A) c.1694+11C>A (n.1694+11C>A) c.1634+11C>A (n.1634+11C>A) c.1598+11C>A (n.1598+11C>A) c.1346+11C>A (n.1346+11C>A) c.1770+10C>A (n.1770+10C>A) c.1782+10C>A (n.1782+10C>A) c.1767+10C>A (n.1767+10C>A) c.1635+10C>A (n.1635+10C>A) c.1347+10C>A (n.1347+10C>A) | gnomAD v4 |
8 | g.71211212_71211213insGCACCATCTAGAAATGCTCACCTTTTTTGCTCCTTGTTCTTCTTCTACACCATCTCCTATAACAACATACACCACTTT | CA2687599352 | EYA1 | c.1698+9_1698+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1596+9_1596+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1593+9_1593+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.*977+9_*977+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT n.2161+9_2161+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.*1375+9_*1375+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1785+9_1785+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1680+9_1680+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT n.768+9_768+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1677+9_1677+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1599+9_1599+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1695+9_1695+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT n.2193+9_2193+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1332+9_1332+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1769+10_1769+11insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1784+10_1784+11insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1683+9_1683+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1697+10_1697+11insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1694+10_1694+11insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1634+10_1634+11insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1598+10_1598+11insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1346+10_1346+11insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1770+9_1770+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1782+9_1782+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1767+9_1767+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1635+9_1635+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1347+9_1347+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT | gnomAD v4 |
8 | g.71211148A>C | CA2687599353 | EYA1 | c.1698+8T>G (n.1698+8T>G) c.1596+8T>G (n.1596+8T>G) c.1593+8T>G (n.1593+8T>G) c.*977+8T>G (n.*977+8T>G) n.2161+8T>G c.*1375+8T>G (n.*1375+8T>G) c.1785+8T>G (n.1785+8T>G) c.1680+8T>G (n.1680+8T>G) n.768+8T>G c.1677+8T>G (n.1677+8T>G) c.1599+8T>G (n.1599+8T>G) c.1695+8T>G (n.1695+8T>G) n.2193+8T>G c.1332+8T>G (n.1332+8T>G) c.1769+9T>G (n.1769+9T>G) c.1784+9T>G (n.1784+9T>G) c.1683+8T>G (n.1683+8T>G) c.1697+9T>G (n.1697+9T>G) c.1694+9T>G (n.1694+9T>G) c.1634+9T>G (n.1634+9T>G) c.1598+9T>G (n.1598+9T>G) c.1346+9T>G (n.1346+9T>G) c.1770+8T>G (n.1770+8T>G) c.1782+8T>G (n.1782+8T>G) c.1767+8T>G (n.1767+8T>G) c.1635+8T>G (n.1635+8T>G) c.1347+8T>G (n.1347+8T>G) | gnomAD v4 |
8 | g.71211150G>A | CA4779388 | EYA1 | c.1698+6C>T (n.1698+6C>T) c.1596+6C>T (n.1596+6C>T) c.1593+6C>T (n.1593+6C>T) c.*977+6C>T (n.*977+6C>T) n.2161+6C>T c.*1375+6C>T (n.*1375+6C>T) c.1785+6C>T (n.1785+6C>T) c.1680+6C>T (n.1680+6C>T) n.768+6C>T c.1677+6C>T (n.1677+6C>T) c.1599+6C>T (n.1599+6C>T) c.1695+6C>T (n.1695+6C>T) n.2193+6C>T c.1332+6C>T (n.1332+6C>T) c.1769+7C>T (n.1769+7C>T) c.1784+7C>T (n.1784+7C>T) c.1683+6C>T (n.1683+6C>T) c.1697+7C>T (n.1697+7C>T) c.1694+7C>T (n.1694+7C>T) c.1634+7C>T (n.1634+7C>T) c.1598+7C>T (n.1598+7C>T) c.1346+7C>T (n.1346+7C>T) c.1770+6C>T (n.1770+6C>T) c.1782+6C>T (n.1782+6C>T) c.1767+6C>T (n.1767+6C>T) c.1635+6C>T (n.1635+6C>T) c.1347+6C>T (n.1347+6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71211150G= | CA1792681530 | EYA1 | c.1698+6C= (n.1698+6C=) c.1596+6C= (n.1596+6C=) c.1593+6C= (n.1593+6C=) c.*977+6C= (n.*977+6C=) n.2161+6C= c.*1375+6C= (n.*1375+6C=) c.1785+6C= (n.1785+6C=) c.1680+6C= (n.1680+6C=) n.768+6C= c.1677+6C= (n.1677+6C=) c.1599+6C= (n.1599+6C=) c.1695+6C= (n.1695+6C=) n.2193+6C= c.1332+6C= (n.1332+6C=) c.1769+7C= (n.1769+7C=) c.1784+7C= (n.1784+7C=) c.1683+6C= (n.1683+6C=) c.1697+7C= (n.1697+7C=) c.1694+7C= (n.1694+7C=) c.1634+7C= (n.1634+7C=) c.1598+7C= (n.1598+7C=) c.1346+7C= (n.1346+7C=) c.1770+6C= (n.1770+6C=) c.1782+6C= (n.1782+6C=) c.1767+6C= (n.1767+6C=) c.1635+6C= (n.1635+6C=) c.1347+6C= (n.1347+6C=) | |
8 | g.71211150G>T | CA2687599354 | EYA1 | c.1698+6C>A (n.1698+6C>A) c.1596+6C>A (n.1596+6C>A) c.1593+6C>A (n.1593+6C>A) c.*977+6C>A (n.*977+6C>A) n.2161+6C>A c.*1375+6C>A (n.*1375+6C>A) c.1785+6C>A (n.1785+6C>A) c.1680+6C>A (n.1680+6C>A) n.768+6C>A c.1677+6C>A (n.1677+6C>A) c.1599+6C>A (n.1599+6C>A) c.1695+6C>A (n.1695+6C>A) n.2193+6C>A c.1332+6C>A (n.1332+6C>A) c.1769+7C>A (n.1769+7C>A) c.1784+7C>A (n.1784+7C>A) c.1683+6C>A (n.1683+6C>A) c.1697+7C>A (n.1697+7C>A) c.1694+7C>A (n.1694+7C>A) c.1634+7C>A (n.1634+7C>A) c.1598+7C>A (n.1598+7C>A) c.1346+7C>A (n.1346+7C>A) c.1770+6C>A (n.1770+6C>A) c.1782+6C>A (n.1782+6C>A) c.1767+6C>A (n.1767+6C>A) c.1635+6C>A (n.1635+6C>A) c.1347+6C>A (n.1347+6C>A) | gnomAD v4 |
8 | g.71211151C>G | CA2695209811 | EYA1 | c.1698+5G>C (n.1698+5G>C) c.1596+5G>C (n.1596+5G>C) c.1593+5G>C (n.1593+5G>C) c.*977+5G>C (n.*977+5G>C) n.2161+5G>C c.*1375+5G>C (n.*1375+5G>C) c.1785+5G>C (n.1785+5G>C) c.1680+5G>C (n.1680+5G>C) n.768+5G>C c.1677+5G>C (n.1677+5G>C) c.1599+5G>C (n.1599+5G>C) c.1695+5G>C (n.1695+5G>C) n.2193+5G>C c.1332+5G>C (n.1332+5G>C) c.1769+6G>C (n.1769+6G>C) c.1784+6G>C (n.1784+6G>C) c.1683+5G>C (n.1683+5G>C) c.1697+6G>C (n.1697+6G>C) c.1694+6G>C (n.1694+6G>C) c.1634+6G>C (n.1634+6G>C) c.1598+6G>C (n.1598+6G>C) c.1346+6G>C (n.1346+6G>C) c.1770+5G>C (n.1770+5G>C) c.1782+5G>C (n.1782+5G>C) c.1767+5G>C (n.1767+5G>C) c.1635+5G>C (n.1635+5G>C) c.1347+5G>C (n.1347+5G>C) | |
8 | g.71211151C>T | CA2687599355 | EYA1 | c.1698+5G>A (n.1698+5G>A) c.1596+5G>A (n.1596+5G>A) c.1593+5G>A (n.1593+5G>A) c.*977+5G>A (n.*977+5G>A) n.2161+5G>A c.*1375+5G>A (n.*1375+5G>A) c.1785+5G>A (n.1785+5G>A) c.1680+5G>A (n.1680+5G>A) n.768+5G>A c.1677+5G>A (n.1677+5G>A) c.1599+5G>A (n.1599+5G>A) c.1695+5G>A (n.1695+5G>A) n.2193+5G>A c.1332+5G>A (n.1332+5G>A) c.1769+6G>A (n.1769+6G>A) c.1784+6G>A (n.1784+6G>A) c.1683+5G>A (n.1683+5G>A) c.1697+6G>A (n.1697+6G>A) c.1694+6G>A (n.1694+6G>A) c.1634+6G>A (n.1634+6G>A) c.1598+6G>A (n.1598+6G>A) c.1346+6G>A (n.1346+6G>A) c.1770+5G>A (n.1770+5G>A) c.1782+5G>A (n.1782+5G>A) c.1767+5G>A (n.1767+5G>A) c.1635+5G>A (n.1635+5G>A) c.1347+5G>A (n.1347+5G>A) | gnomAD v4 |
8 | g.71211153C>A | CA2687599356 | EYA1 | c.1698+3G>T (n.1698+3G>T) c.1596+3G>T (n.1596+3G>T) c.1593+3G>T (n.1593+3G>T) c.*977+3G>T (n.*977+3G>T) n.2161+3G>T c.*1375+3G>T (n.*1375+3G>T) c.1785+3G>T (n.1785+3G>T) c.1680+3G>T (n.1680+3G>T) n.768+3G>T c.1677+3G>T (n.1677+3G>T) c.1599+3G>T (n.1599+3G>T) c.1695+3G>T (n.1695+3G>T) n.2193+3G>T c.1332+3G>T (n.1332+3G>T) c.1769+4G>T (n.1769+4G>T) c.1784+4G>T (n.1784+4G>T) c.1683+3G>T (n.1683+3G>T) c.1697+4G>T (n.1697+4G>T) c.1694+4G>T (n.1694+4G>T) c.1634+4G>T (n.1634+4G>T) c.1598+4G>T (n.1598+4G>T) c.1346+4G>T (n.1346+4G>T) c.1770+3G>T (n.1770+3G>T) c.1782+3G>T (n.1782+3G>T) c.1767+3G>T (n.1767+3G>T) c.1635+3G>T (n.1635+3G>T) c.1347+3G>T (n.1347+3G>T) | gnomAD v4 |
8 | g.71211153C= | CA1792681532 | EYA1 | c.1698+3G= (n.1698+3G=) c.1596+3G= (n.1596+3G=) c.1593+3G= (n.1593+3G=) c.*977+3G= (n.*977+3G=) n.2161+3G= c.*1375+3G= (n.*1375+3G=) c.1785+3G= (n.1785+3G=) c.1680+3G= (n.1680+3G=) n.768+3G= c.1677+3G= (n.1677+3G=) c.1599+3G= (n.1599+3G=) c.1695+3G= (n.1695+3G=) n.2193+3G= c.1332+3G= (n.1332+3G=) c.1769+4G= (n.1769+4G=) c.1784+4G= (n.1784+4G=) c.1683+3G= (n.1683+3G=) c.1697+4G= (n.1697+4G=) c.1694+4G= (n.1694+4G=) c.1634+4G= (n.1634+4G=) c.1598+4G= (n.1598+4G=) c.1346+4G= (n.1346+4G=) c.1770+3G= (n.1770+3G=) c.1782+3G= (n.1782+3G=) c.1767+3G= (n.1767+3G=) c.1635+3G= (n.1635+3G=) c.1347+3G= (n.1347+3G=) | |
8 | g.71211153C>T | CA179207063 | EYA1 | c.1698+3G>A (n.1698+3G>A) c.1596+3G>A (n.1596+3G>A) c.1593+3G>A (n.1593+3G>A) c.*977+3G>A (n.*977+3G>A) n.2161+3G>A c.*1375+3G>A (n.*1375+3G>A) c.1785+3G>A (n.1785+3G>A) c.1680+3G>A (n.1680+3G>A) n.768+3G>A c.1677+3G>A (n.1677+3G>A) c.1599+3G>A (n.1599+3G>A) c.1695+3G>A (n.1695+3G>A) n.2193+3G>A c.1332+3G>A (n.1332+3G>A) c.1769+4G>A (n.1769+4G>A) c.1784+4G>A (n.1784+4G>A) c.1683+3G>A (n.1683+3G>A) c.1697+4G>A (n.1697+4G>A) c.1694+4G>A (n.1694+4G>A) c.1634+4G>A (n.1634+4G>A) c.1598+4G>A (n.1598+4G>A) c.1346+4G>A (n.1346+4G>A) c.1770+3G>A (n.1770+3G>A) c.1782+3G>A (n.1782+3G>A) c.1767+3G>A (n.1767+3G>A) c.1635+3G>A (n.1635+3G>A) c.1347+3G>A (n.1347+3G>A) | dbSNP |
8 | g.71211154A>C | CA371465800 | EYA1 | c.1698+2T>G (n.1698+2T>G) c.1596+2T>G (n.1596+2T>G) c.1593+2T>G (n.1593+2T>G) c.*977+2T>G (n.*977+2T>G) n.2161+2T>G c.*1375+2T>G (n.*1375+2T>G) c.1785+2T>G (n.1785+2T>G) c.1680+2T>G (n.1680+2T>G) n.768+2T>G c.1677+2T>G (n.1677+2T>G) c.1599+2T>G (n.1599+2T>G) c.1695+2T>G (n.1695+2T>G) n.2193+2T>G c.1332+2T>G (n.1332+2T>G) c.1769+3T>G (n.1769+3T>G) c.1784+3T>G (n.1784+3T>G) c.1683+2T>G (n.1683+2T>G) c.1697+3T>G (n.1697+3T>G) c.1694+3T>G (n.1694+3T>G) c.1634+3T>G (n.1634+3T>G) c.1598+3T>G (n.1598+3T>G) c.1346+3T>G (n.1346+3T>G) c.1770+2T>G (n.1770+2T>G) c.1782+2T>G (n.1782+2T>G) c.1767+2T>G (n.1767+2T>G) c.1635+2T>G (n.1635+2T>G) c.1347+2T>G (n.1347+2T>G) | |
8 | g.71211154A>G | CA371465801 | EYA1 | c.1698+2T>C (n.1698+2T>C) c.1596+2T>C (n.1596+2T>C) c.1593+2T>C (n.1593+2T>C) c.*977+2T>C (n.*977+2T>C) n.2161+2T>C c.*1375+2T>C (n.*1375+2T>C) c.1785+2T>C (n.1785+2T>C) c.1680+2T>C (n.1680+2T>C) n.768+2T>C c.1677+2T>C (n.1677+2T>C) c.1599+2T>C (n.1599+2T>C) c.1695+2T>C (n.1695+2T>C) n.2193+2T>C c.1332+2T>C (n.1332+2T>C) c.1769+3T>C (n.1769+3T>C) c.1784+3T>C (n.1784+3T>C) c.1683+2T>C (n.1683+2T>C) c.1697+3T>C (n.1697+3T>C) c.1694+3T>C (n.1694+3T>C) c.1634+3T>C (n.1634+3T>C) c.1598+3T>C (n.1598+3T>C) c.1346+3T>C (n.1346+3T>C) c.1770+2T>C (n.1770+2T>C) c.1782+2T>C (n.1782+2T>C) c.1767+2T>C (n.1767+2T>C) c.1635+2T>C (n.1635+2T>C) c.1347+2T>C (n.1347+2T>C) | ClinVar |
8 | g.71211154A>T | CA371465802 | EYA1 | c.1698+2T>A (n.1698+2T>A) c.1596+2T>A (n.1596+2T>A) c.1593+2T>A (n.1593+2T>A) c.*977+2T>A (n.*977+2T>A) n.2161+2T>A c.*1375+2T>A (n.*1375+2T>A) c.1785+2T>A (n.1785+2T>A) c.1680+2T>A (n.1680+2T>A) n.768+2T>A c.1677+2T>A (n.1677+2T>A) c.1599+2T>A (n.1599+2T>A) c.1695+2T>A (n.1695+2T>A) n.2193+2T>A c.1332+2T>A (n.1332+2T>A) c.1769+3T>A (n.1769+3T>A) c.1784+3T>A (n.1784+3T>A) c.1683+2T>A (n.1683+2T>A) c.1697+3T>A (n.1697+3T>A) c.1694+3T>A (n.1694+3T>A) c.1634+3T>A (n.1634+3T>A) c.1598+3T>A (n.1598+3T>A) c.1346+3T>A (n.1346+3T>A) c.1770+2T>A (n.1770+2T>A) c.1782+2T>A (n.1782+2T>A) c.1767+2T>A (n.1767+2T>A) c.1635+2T>A (n.1635+2T>A) c.1347+2T>A (n.1347+2T>A) | |
8 | g.71211155C>A | CA371465803 | EYA1 | c.1698+1G>T (n.1698+1G>T) c.1596+1G>T (n.1596+1G>T) c.1593+1G>T (n.1593+1G>T) c.*977+1G>T (n.*977+1G>T) n.2161+1G>T c.*1375+1G>T (n.*1375+1G>T) c.1785+1G>T (n.1785+1G>T) c.1680+1G>T (n.1680+1G>T) n.768+1G>T c.1677+1G>T (n.1677+1G>T) c.1599+1G>T (n.1599+1G>T) c.1695+1G>T (n.1695+1G>T) n.2193+1G>T c.1332+1G>T (n.1332+1G>T) c.1769+2G>T (n.1769+2G>T) c.1784+2G>T (n.1784+2G>T) c.1683+1G>T (n.1683+1G>T) c.1697+2G>T (n.1697+2G>T) c.1694+2G>T (n.1694+2G>T) c.1634+2G>T (n.1634+2G>T) c.1598+2G>T (n.1598+2G>T) c.1346+2G>T (n.1346+2G>T) c.1770+1G>T (n.1770+1G>T) c.1782+1G>T (n.1782+1G>T) c.1767+1G>T (n.1767+1G>T) c.1635+1G>T (n.1635+1G>T) c.1347+1G>T (n.1347+1G>T) | ClinVar dbSNP |
8 | g.71211155C= | CA1792681537 | EYA1 | c.1698+1G= (n.1698+1G=) c.1596+1G= (n.1596+1G=) c.1593+1G= (n.1593+1G=) c.*977+1G= (n.*977+1G=) n.2161+1G= c.*1375+1G= (n.*1375+1G=) c.1785+1G= (n.1785+1G=) c.1680+1G= (n.1680+1G=) n.768+1G= c.1677+1G= (n.1677+1G=) c.1599+1G= (n.1599+1G=) c.1695+1G= (n.1695+1G=) n.2193+1G= c.1332+1G= (n.1332+1G=) c.1769+2G= (n.1769+2G=) c.1784+2G= (n.1784+2G=) c.1683+1G= (n.1683+1G=) c.1697+2G= (n.1697+2G=) c.1694+2G= (n.1694+2G=) c.1634+2G= (n.1634+2G=) c.1598+2G= (n.1598+2G=) c.1346+2G= (n.1346+2G=) c.1770+1G= (n.1770+1G=) c.1782+1G= (n.1782+1G=) c.1767+1G= (n.1767+1G=) c.1635+1G= (n.1635+1G=) c.1347+1G= (n.1347+1G=) | |
8 | g.71211155C>G | CA371465804 | EYA1 | c.1698+1G>C (n.1698+1G>C) c.1596+1G>C (n.1596+1G>C) c.1593+1G>C (n.1593+1G>C) c.*977+1G>C (n.*977+1G>C) n.2161+1G>C c.*1375+1G>C (n.*1375+1G>C) c.1785+1G>C (n.1785+1G>C) c.1680+1G>C (n.1680+1G>C) n.768+1G>C c.1677+1G>C (n.1677+1G>C) c.1599+1G>C (n.1599+1G>C) c.1695+1G>C (n.1695+1G>C) n.2193+1G>C c.1332+1G>C (n.1332+1G>C) c.1769+2G>C (n.1769+2G>C) c.1784+2G>C (n.1784+2G>C) c.1683+1G>C (n.1683+1G>C) c.1697+2G>C (n.1697+2G>C) c.1694+2G>C (n.1694+2G>C) c.1634+2G>C (n.1634+2G>C) c.1598+2G>C (n.1598+2G>C) c.1346+2G>C (n.1346+2G>C) c.1770+1G>C (n.1770+1G>C) c.1782+1G>C (n.1782+1G>C) c.1767+1G>C (n.1767+1G>C) c.1635+1G>C (n.1635+1G>C) c.1347+1G>C (n.1347+1G>C) | |
8 | g.71211155C>T | CA4779389 | EYA1 | c.1698+1G>A (n.1698+1G>A) c.1596+1G>A (n.1596+1G>A) c.1593+1G>A (n.1593+1G>A) c.*977+1G>A (n.*977+1G>A) n.2161+1G>A c.*1375+1G>A (n.*1375+1G>A) c.1785+1G>A (n.1785+1G>A) c.1680+1G>A (n.1680+1G>A) n.768+1G>A c.1677+1G>A (n.1677+1G>A) c.1599+1G>A (n.1599+1G>A) c.1695+1G>A (n.1695+1G>A) n.2193+1G>A c.1332+1G>A (n.1332+1G>A) c.1769+2G>A (n.1769+2G>A) c.1784+2G>A (n.1784+2G>A) c.1683+1G>A (n.1683+1G>A) c.1697+2G>A (n.1697+2G>A) c.1694+2G>A (n.1694+2G>A) c.1634+2G>A (n.1634+2G>A) c.1598+2G>A (n.1598+2G>A) c.1346+2G>A (n.1346+2G>A) c.1770+1G>A (n.1770+1G>A) c.1782+1G>A (n.1782+1G>A) c.1767+1G>A (n.1767+1G>A) c.1635+1G>A (n.1635+1G>A) c.1347+1G>A (n.1347+1G>A) | dbSNP ExAC gnomAD v2 |
8 | g.71211155_71211159delinsCCTTT | CA1792681539 | EYA1 | c.1695_1698+1delinsAAAGG c.1593_1596+1delinsAAAGG c.1590_1593+1delinsAAAGG c.*974_*977+1delinsAAAGG n.2158_2161+1delinsAAAGG c.*1372_*1375+1delinsAAAGG c.1782_1785+1delinsAAAGG c.1677_1680+1delinsAAAGG n.765_768+1delinsAAAGG c.1674_1677+1delinsAAAGG c.1596_1599+1delinsAAAGG c.1692_1695+1delinsAAAGG n.2190_2193+1delinsAAAGG c.1329_1332+1delinsAAAGG c.1767_1769+2delinsAAAGG c.1782_1784+2delinsAAAGG c.1680_1683+1delinsAAAGG c.1695_1697+2delinsAAAGG c.1692_1694+2delinsAAAGG c.1632_1634+2delinsAAAGG c.1596_1598+2delinsAAAGG c.1344_1346+2delinsAAAGG c.1767_1770+1delinsAAAGG c.1779_1782+1delinsAAAGG c.1764_1767+1delinsAAAGG c.1632_1635+1delinsAAAGG c.1344_1347+1delinsAAAGG | |
8 | g.71211156C>A | CA371465805 | EYA1 | c.1698G>T (p.Lys566Asn) c.1596G>T (p.Lys532Asn) c.1593G>T (p.Lys531Asn) c.*977G>T (n.*977G>T) n.2161G>T c.*1375G>T (n.*1375G>T) c.1785G>T (p.Lys595Asn) c.1680G>T (p.Lys560Asn) n.768G>T c.1677G>T (p.Lys559Asn) c.1599G>T (p.Lys533Asn) c.1695G>T (p.Lys565Asn) n.2193G>T c.1332G>T (p.Lys444Asn) c.1769+1G>T (n.1769+1G>T) c.1784+1G>T (n.1784+1G>T) c.1683G>T (p.Lys561Asn) c.1697+1G>T (n.1697+1G>T) c.1694+1G>T (n.1694+1G>T) c.1634+1G>T (n.1634+1G>T) c.1598+1G>T (n.1598+1G>T) c.1346+1G>T (n.1346+1G>T) c.1770G>T (p.Lys590Asn) c.1782G>T (p.Lys594Asn) c.1767G>T (p.Lys589Asn) c.1635G>T (p.Lys545Asn) c.1347G>T (p.Lys449Asn) | |
8 | g.71211156C= | CA1792681544 | EYA1 | c.1698G= (p.Lys566=) c.1596G= (p.Lys532=) c.1593G= (p.Lys531=) c.*977G= (n.*977G=) n.2161G= c.*1375G= (n.*1375G=) c.1785G= (p.Lys595=) c.1680G= (p.Lys560=) n.768G= c.1677G= (p.Lys559=) c.1599G= (p.Lys533=) c.1695G= (p.Lys565=) n.2193G= c.1332G= (p.Lys444=) c.1769+1G= (n.1769+1G=) c.1784+1G= (n.1784+1G=) c.1683G= (p.Lys561=) c.1697+1G= (n.1697+1G=) c.1694+1G= (n.1694+1G=) c.1634+1G= (n.1634+1G=) c.1598+1G= (n.1598+1G=) c.1346+1G= (n.1346+1G=) c.1770G= (p.Lys590=) c.1782G= (p.Lys594=) c.1767G= (p.Lys589=) c.1635G= (p.Lys545=) c.1347G= (p.Lys449=) | |
8 | g.71211156C>G | CA371465806 | EYA1 | c.1698G>C (p.Lys566Asn) c.1596G>C (p.Lys532Asn) c.1593G>C (p.Lys531Asn) c.*977G>C (n.*977G>C) n.2161G>C c.*1375G>C (n.*1375G>C) c.1785G>C (p.Lys595Asn) c.1680G>C (p.Lys560Asn) n.768G>C c.1677G>C (p.Lys559Asn) c.1599G>C (p.Lys533Asn) c.1695G>C (p.Lys565Asn) n.2193G>C c.1332G>C (p.Lys444Asn) c.1769+1G>C (n.1769+1G>C) c.1784+1G>C (n.1784+1G>C) c.1683G>C (p.Lys561Asn) c.1697+1G>C (n.1697+1G>C) c.1694+1G>C (n.1694+1G>C) c.1634+1G>C (n.1634+1G>C) c.1598+1G>C (n.1598+1G>C) c.1346+1G>C (n.1346+1G>C) c.1770G>C (p.Lys590Asn) c.1782G>C (p.Lys594Asn) c.1767G>C (p.Lys589Asn) c.1635G>C (p.Lys545Asn) c.1347G>C (p.Lys449Asn) | |
8 | g.71211156C>T | CA461323665 | EYA1 | c.1698G>A (p.Lys566=) c.1596G>A (p.Lys532=) c.1593G>A (p.Lys531=) c.*977G>A (n.*977G>A) n.2161G>A c.*1375G>A (n.*1375G>A) c.1785G>A (p.Lys595=) c.1680G>A (p.Lys560=) n.768G>A c.1677G>A (p.Lys559=) c.1599G>A (p.Lys533=) c.1695G>A (p.Lys565=) n.2193G>A c.1332G>A (p.Lys444=) c.1769+1G>A (n.1769+1G>A) c.1784+1G>A (n.1784+1G>A) c.1683G>A (p.Lys561=) c.1697+1G>A (n.1697+1G>A) c.1694+1G>A (n.1694+1G>A) c.1634+1G>A (n.1634+1G>A) c.1598+1G>A (n.1598+1G>A) c.1346+1G>A (n.1346+1G>A) c.1770G>A (p.Lys590=) c.1782G>A (p.Lys594=) c.1767G>A (p.Lys589=) c.1635G>A (p.Lys545=) c.1347G>A (p.Lys449=) | COSMIC COSMIC |
8 | g.71211156_71211157delinsA | CA2837994838 | EYA1 | c.1697_1698delinsT (p.Lys566IlefsTer?) c.1595_1596delinsT (p.Lys532IlefsTer?) c.1592_1593delinsT (p.Lys531IlefsTer?) c.*976_*977delinsT (n.*976_*977delinsT) n.2160_2161delinsT c.*1374_*1375delinsT (n.*1374_*1375delinsT) c.1784_1785delinsT (p.Lys595IlefsTer?) c.1679_1680delinsT (p.Lys560IlefsTer?) n.767_768delinsT c.1676_1677delinsT (p.Lys559IlefsTer?) c.1598_1599delinsT (p.Lys533IlefsTer?) c.1694_1695delinsT (p.Lys565IlefsTer?) n.2192_2193delinsT c.1331_1332delinsT (p.Lys444IlefsTer?) c.1769_1769+1delinsT c.1784_1784+1delinsT c.1682_1683delinsT (p.Lys561IlefsTer?) c.1697_1697+1delinsT c.1694_1694+1delinsT c.1634_1634+1delinsT c.1598_1598+1delinsT c.1346_1346+1delinsT c.1769_1770delinsT (p.Lys590IlefsTer?) c.1781_1782delinsT (p.Lys594IlefsTer?) c.1766_1767delinsT (p.Lys589IlefsTer?) c.1784_1785delinsT (p.Lys595MetfsTer23) c.1634_1635delinsT (p.Lys545IlefsTer?) c.1346_1347delinsT (p.Lys449IlefsTer?) | |
8 | g.71211156_71211159del | CA254270 | EYA1 | c.1695_1698del (p.Lys565AsnfsTer?) c.1593_1596del (p.Lys531AsnfsTer?) c.1590_1593del (p.Lys530AsnfsTer?) c.*974_*977del (n.*974_*977del) n.2158_2161del c.*1372_*1375del (n.*1372_*1375del) c.1782_1785del (p.Lys594AsnfsTer?) c.1677_1680del (p.Lys559AsnfsTer?) n.765_768del c.1674_1677del (p.Lys558AsnfsTer?) c.1596_1599del (p.Lys532AsnfsTer?) c.1692_1695del (p.Lys564AsnfsTer?) n.2190_2193del c.1329_1332del (p.Lys443AsnfsTer?) c.1767_1769+1del c.1782_1784+1del c.1680_1683del (p.Lys560AsnfsTer?) c.1695_1697+1del c.1692_1694+1del c.1632_1634+1del c.1596_1598+1del c.1344_1346+1del c.1767_1770del (p.Lys589AsnfsTer?) c.1779_1782del (p.Lys593AsnfsTer?) c.1764_1767del (p.Lys588AsnfsTer?) c.1782_1785del (p.Lys595SerfsTer22) c.1632_1635del (p.Lys544AsnfsTer?) c.1344_1347del (p.Lys448AsnfsTer?) | ClinVar dbSNP |
8 | g.71211156_71211157insA | CA262037 | EYA1 | c.1697_1698insT (p.Lys566AsnfsTer?) c.1595_1596insT (p.Lys532AsnfsTer?) c.1592_1593insT (p.Lys531AsnfsTer?) c.*976_*977insT (n.*976_*977insT) n.2160_2161insT c.*1374_*1375insT (n.*1374_*1375insT) c.1784_1785insT (p.Lys595AsnfsTer?) c.1679_1680insT (p.Lys560AsnfsTer?) n.767_768insT c.1676_1677insT (p.Lys559AsnfsTer?) c.1598_1599insT (p.Lys533AsnfsTer?) c.1694_1695insT (p.Lys565AsnfsTer?) n.2192_2193insT c.1331_1332insT (p.Lys444AsnfsTer?) c.1769_1769+1insT (n.1769_1769+1insT) c.1784_1784+1insT (n.1784_1784+1insT) c.1682_1683insT (p.Lys561AsnfsTer?) c.1697_1697+1insT (n.1697_1697+1insT) c.1694_1694+1insT (n.1694_1694+1insT) c.1634_1634+1insT (n.1634_1634+1insT) c.1598_1598+1insT (n.1598_1598+1insT) c.1346_1346+1insT (n.1346_1346+1insT) c.1769_1770insT (p.Lys590AsnfsTer?) c.1781_1782insT (p.Lys594AsnfsTer?) c.1766_1767insT (p.Lys589AsnfsTer?) c.1784_1785insT (p.Lys595AsnfsTer4) c.1634_1635insT (p.Lys545AsnfsTer?) c.1346_1347insT (p.Lys449AsnfsTer?) | ClinVar dbSNP |
8 | g.71211157T>A | CA371465808 | EYA1 | c.1697A>T (p.Lys566Met) c.1595A>T (p.Lys532Met) c.1592A>T (p.Lys531Met) c.*976A>T (n.*976A>T) n.2160A>T c.*1374A>T (n.*1374A>T) c.1784A>T (p.Lys595Met) c.1679A>T (p.Lys560Met) n.767A>T c.1676A>T (p.Lys559Met) c.1598A>T (p.Lys533Met) c.1694A>T (p.Lys565Met) n.2192A>T c.1331A>T (p.Lys444Met) c.1769A>T (p.Lys590Ile) c.1784A>T (p.Lys595Ile) c.1682A>T (p.Lys561Met) c.1697A>T (p.Lys566Ile) c.1694A>T (p.Lys565Ile) c.1634A>T (p.Lys545Ile) c.1598A>T (p.Lys533Ile) c.1346A>T (p.Lys449Ile) c.1769A>T (p.Lys590Met) c.1781A>T (p.Lys594Met) c.1766A>T (p.Lys589Met) c.1634A>T (p.Lys545Met) c.1346A>T (p.Lys449Met) | |
8 | g.71211157T>C | CA371465807 | EYA1 | c.1697A>G (p.Lys566Arg) c.1595A>G (p.Lys532Arg) c.1592A>G (p.Lys531Arg) c.*976A>G (n.*976A>G) n.2160A>G c.*1374A>G (n.*1374A>G) c.1784A>G (p.Lys595Arg) c.1679A>G (p.Lys560Arg) n.767A>G c.1676A>G (p.Lys559Arg) c.1598A>G (p.Lys533Arg) c.1694A>G (p.Lys565Arg) n.2192A>G c.1331A>G (p.Lys444Arg) c.1769A>G (p.Lys590Arg) c.1682A>G (p.Lys561Arg) c.1634A>G (p.Lys545Arg) c.1346A>G (p.Lys449Arg) c.1781A>G (p.Lys594Arg) c.1766A>G (p.Lys589Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.71211157T>G | CA4779390 | EYA1 | c.1697A>C (p.Lys566Thr) c.1595A>C (p.Lys532Thr) c.1592A>C (p.Lys531Thr) c.*976A>C (n.*976A>C) n.2160A>C c.*1374A>C (n.*1374A>C) c.1784A>C (p.Lys595Thr) c.1679A>C (p.Lys560Thr) n.767A>C c.1676A>C (p.Lys559Thr) c.1598A>C (p.Lys533Thr) c.1694A>C (p.Lys565Thr) n.2192A>C c.1331A>C (p.Lys444Thr) c.1769A>C (p.Lys590Thr) c.1682A>C (p.Lys561Thr) c.1634A>C (p.Lys545Thr) c.1346A>C (p.Lys449Thr) c.1781A>C (p.Lys594Thr) c.1766A>C (p.Lys589Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.71211157T= | CA1792681550 | EYA1 | c.1697A= (p.Lys566=) c.1595A= (p.Lys532=) c.1592A= (p.Lys531=) c.*976A= (n.*976A=) n.2160A= c.*1374A= (n.*1374A=) c.1784A= (p.Lys595=) c.1679A= (p.Lys560=) n.767A= c.1676A= (p.Lys559=) c.1598A= (p.Lys533=) c.1694A= (p.Lys565=) n.2192A= c.1331A= (p.Lys444=) c.1769A= (p.Lys590=) c.1682A= (p.Lys561=) c.1634A= (p.Lys545=) c.1346A= (p.Lys449=) c.1781A= (p.Lys594=) c.1766A= (p.Lys589=) | |
8 | g.71211162dup | CA2687599357 | EYA1 | c.1697dup (p.His567AlafsTer?) c.1595dup (p.His533AlafsTer?) c.1592dup (p.His532AlafsTer?) c.*976dup (n.*976dup) n.2160dup c.*1374dup (n.*1374dup) c.1784dup (p.His596AlafsTer?) c.1679dup (p.His561AlafsTer?) n.767dup c.1676dup (p.His560AlafsTer?) c.1598dup (p.His534AlafsTer?) c.1694dup (p.His566AlafsTer?) n.2192dup c.1331dup (p.His445AlafsTer?) c.1769dup (p.Ala591SerfsTer?) c.1784dup (p.Ala596SerfsTer?) c.1682dup (p.His562AlafsTer?) c.1697dup (p.Ala567SerfsTer?) c.1694dup (p.Ala566SerfsTer?) c.1634dup (p.Ala546SerfsTer?) c.1598dup (p.Ala534SerfsTer?) c.1346dup (p.Ala450SerfsTer?) c.1769dup (p.His591AlafsTer?) c.1781dup (p.His595AlafsTer?) c.1766dup (p.His590AlafsTer?) c.1784dup (p.Val596GlyfsTer3) c.1634dup (p.His546AlafsTer?) c.1346dup (p.His450AlafsTer?) | gnomAD v4 |
8 | g.71211162del | CA461323666 | EYA1 | c.1697del (p.Lys566SerfsTer?) c.1595del (p.Lys532SerfsTer?) c.1592del (p.Lys531SerfsTer?) c.*976del (n.*976del) n.2160del c.*1374del (n.*1374del) c.1784del (p.Lys595SerfsTer?) c.1679del (p.Lys560SerfsTer?) n.767del c.1676del (p.Lys559SerfsTer?) c.1598del (p.Lys533SerfsTer?) c.1694del (p.Lys565SerfsTer?) n.2192del c.1331del (p.Lys444SerfsTer?) c.1769del (p.Ala591HisfsTer27) c.1784del (p.Ala596HisfsTer27) c.1682del (p.Lys561SerfsTer?) c.1697del (p.Ala567HisfsTer27) c.1694del (p.Ala566HisfsTer27) c.1634del (p.Ala546HisfsTer27) c.1598del (p.Ala534HisfsTer27) c.1346del (p.Ala450HisfsTer27) c.1769del (p.Lys590SerfsTer?) c.1781del (p.Lys594SerfsTer?) c.1766del (p.Lys589SerfsTer?) c.1784del (p.Lys595ArgfsTer23) c.1634del (p.Lys545SerfsTer?) c.1346del (p.Lys449SerfsTer?) | gnomAD v4 |
8 | g.71211158T>A | CA371465811 | EYA1 | c.1696A>T (p.Lys566Ter) c.1594A>T (p.Lys532Ter) c.1591A>T (p.Lys531Ter) c.*975A>T (n.*975A>T) n.2159A>T c.*1373A>T (n.*1373A>T) c.1783A>T (p.Lys595Ter) c.1678A>T (p.Lys560Ter) n.766A>T c.1675A>T (p.Lys559Ter) c.1597A>T (p.Lys533Ter) c.1693A>T (p.Lys565Ter) n.2191A>T c.1330A>T (p.Lys444Ter) c.1768A>T (p.Lys590Ter) c.1681A>T (p.Lys561Ter) c.1633A>T (p.Lys545Ter) c.1345A>T (p.Lys449Ter) c.1780A>T (p.Lys594Ter) c.1765A>T (p.Lys589Ter) | |
8 | g.71211158T>C | CA371465809 | EYA1 | c.1696A>G (p.Lys566Glu) c.1594A>G (p.Lys532Glu) c.1591A>G (p.Lys531Glu) c.*975A>G (n.*975A>G) n.2159A>G c.*1373A>G (n.*1373A>G) c.1783A>G (p.Lys595Glu) c.1678A>G (p.Lys560Glu) n.766A>G c.1675A>G (p.Lys559Glu) c.1597A>G (p.Lys533Glu) c.1693A>G (p.Lys565Glu) n.2191A>G c.1330A>G (p.Lys444Glu) c.1768A>G (p.Lys590Glu) c.1681A>G (p.Lys561Glu) c.1633A>G (p.Lys545Glu) c.1345A>G (p.Lys449Glu) c.1780A>G (p.Lys594Glu) c.1765A>G (p.Lys589Glu) | |
8 | g.71211158T>G | CA371465810 | EYA1 | c.1696A>C (p.Lys566Gln) c.1594A>C (p.Lys532Gln) c.1591A>C (p.Lys531Gln) c.*975A>C (n.*975A>C) n.2159A>C c.*1373A>C (n.*1373A>C) c.1783A>C (p.Lys595Gln) c.1678A>C (p.Lys560Gln) n.766A>C c.1675A>C (p.Lys559Gln) c.1597A>C (p.Lys533Gln) c.1693A>C (p.Lys565Gln) n.2191A>C c.1330A>C (p.Lys444Gln) c.1768A>C (p.Lys590Gln) c.1681A>C (p.Lys561Gln) c.1633A>C (p.Lys545Gln) c.1345A>C (p.Lys449Gln) c.1780A>C (p.Lys594Gln) c.1765A>C (p.Lys589Gln) | |
8 | g.71211159T>A | CA371465812 | EYA1 | c.1695A>T (p.Lys565Asn) c.1593A>T (p.Lys531Asn) c.1590A>T (p.Lys530Asn) c.*974A>T (n.*974A>T) n.2158A>T c.*1372A>T (n.*1372A>T) c.1782A>T (p.Lys594Asn) c.1677A>T (p.Lys559Asn) n.765A>T c.1674A>T (p.Lys558Asn) c.1596A>T (p.Lys532Asn) c.1692A>T (p.Lys564Asn) n.2190A>T c.1329A>T (p.Lys443Asn) c.1767A>T (p.Lys589Asn) c.1680A>T (p.Lys560Asn) c.1632A>T (p.Lys544Asn) c.1344A>T (p.Lys448Asn) c.1779A>T (p.Lys593Asn) c.1764A>T (p.Lys588Asn) | |
8 | g.71211159T>C | CA461323667 | EYA1 | c.1695A>G (p.Lys565=) c.1593A>G (p.Lys531=) c.1590A>G (p.Lys530=) c.*974A>G (n.*974A>G) n.2158A>G c.*1372A>G (n.*1372A>G) c.1782A>G (p.Lys594=) c.1677A>G (p.Lys559=) n.765A>G c.1674A>G (p.Lys558=) c.1596A>G (p.Lys532=) c.1692A>G (p.Lys564=) n.2190A>G c.1329A>G (p.Lys443=) c.1767A>G (p.Lys589=) c.1680A>G (p.Lys560=) c.1632A>G (p.Lys544=) c.1344A>G (p.Lys448=) c.1779A>G (p.Lys593=) c.1764A>G (p.Lys588=) | |
8 | g.71211159T>G | CA371465813 | EYA1 | c.1695A>C (p.Lys565Asn) c.1593A>C (p.Lys531Asn) c.1590A>C (p.Lys530Asn) c.*974A>C (n.*974A>C) n.2158A>C c.*1372A>C (n.*1372A>C) c.1782A>C (p.Lys594Asn) c.1677A>C (p.Lys559Asn) n.765A>C c.1674A>C (p.Lys558Asn) c.1596A>C (p.Lys532Asn) c.1692A>C (p.Lys564Asn) n.2190A>C c.1329A>C (p.Lys443Asn) c.1767A>C (p.Lys589Asn) c.1680A>C (p.Lys560Asn) c.1632A>C (p.Lys544Asn) c.1344A>C (p.Lys448Asn) c.1779A>C (p.Lys593Asn) c.1764A>C (p.Lys588Asn) | |
8 | g.71211160T>A | CA371465814 | EYA1 | c.1694A>T (p.Lys565Ile) c.1592A>T (p.Lys531Ile) c.1589A>T (p.Lys530Ile) c.*973A>T (n.*973A>T) n.2157A>T c.*1371A>T (n.*1371A>T) c.1781A>T (p.Lys594Ile) c.1676A>T (p.Lys559Ile) n.764A>T c.1673A>T (p.Lys558Ile) c.1595A>T (p.Lys532Ile) c.1691A>T (p.Lys564Ile) n.2189A>T c.1328A>T (p.Lys443Ile) c.1766A>T (p.Lys589Ile) c.1679A>T (p.Lys560Ile) c.1631A>T (p.Lys544Ile) c.1343A>T (p.Lys448Ile) c.1778A>T (p.Lys593Ile) c.1763A>T (p.Lys588Ile) | dbSNP |
8 | g.71211160T>C | CA371465815 | EYA1 | c.1694A>G (p.Lys565Arg) c.1592A>G (p.Lys531Arg) c.1589A>G (p.Lys530Arg) c.*973A>G (n.*973A>G) n.2157A>G c.*1371A>G (n.*1371A>G) c.1781A>G (p.Lys594Arg) c.1676A>G (p.Lys559Arg) n.764A>G c.1673A>G (p.Lys558Arg) c.1595A>G (p.Lys532Arg) c.1691A>G (p.Lys564Arg) n.2189A>G c.1328A>G (p.Lys443Arg) c.1766A>G (p.Lys589Arg) c.1679A>G (p.Lys560Arg) c.1631A>G (p.Lys544Arg) c.1343A>G (p.Lys448Arg) c.1778A>G (p.Lys593Arg) c.1763A>G (p.Lys588Arg) | |
8 | g.71211160T>G | CA371465816 | EYA1 | c.1694A>C (p.Lys565Thr) c.1592A>C (p.Lys531Thr) c.1589A>C (p.Lys530Thr) c.*973A>C (n.*973A>C) n.2157A>C c.*1371A>C (n.*1371A>C) c.1781A>C (p.Lys594Thr) c.1676A>C (p.Lys559Thr) n.764A>C c.1673A>C (p.Lys558Thr) c.1595A>C (p.Lys532Thr) c.1691A>C (p.Lys564Thr) n.2189A>C c.1328A>C (p.Lys443Thr) c.1766A>C (p.Lys589Thr) c.1679A>C (p.Lys560Thr) c.1631A>C (p.Lys544Thr) c.1343A>C (p.Lys448Thr) c.1778A>C (p.Lys593Thr) c.1763A>C (p.Lys588Thr) | |
8 | g.71211160T= | CA1792681553 | EYA1 | c.1694A= (p.Lys565=) c.1592A= (p.Lys531=) c.1589A= (p.Lys530=) c.*973A= (n.*973A=) n.2157A= c.*1371A= (n.*1371A=) c.1781A= (p.Lys594=) c.1676A= (p.Lys559=) n.764A= c.1673A= (p.Lys558=) c.1595A= (p.Lys532=) c.1691A= (p.Lys564=) n.2189A= c.1328A= (p.Lys443=) c.1766A= (p.Lys589=) c.1679A= (p.Lys560=) c.1631A= (p.Lys544=) c.1343A= (p.Lys448=) c.1778A= (p.Lys593=) c.1763A= (p.Lys588=) | |
8 | g.71211161T>A | CA371465817 | EYA1 | c.1693A>T (p.Lys565Ter) c.1591A>T (p.Lys531Ter) c.1588A>T (p.Lys530Ter) c.*972A>T (n.*972A>T) n.2156A>T c.*1370A>T (n.*1370A>T) c.1780A>T (p.Lys594Ter) c.1675A>T (p.Lys559Ter) n.763A>T c.1672A>T (p.Lys558Ter) c.1594A>T (p.Lys532Ter) c.1690A>T (p.Lys564Ter) n.2188A>T c.1327A>T (p.Lys443Ter) c.1765A>T (p.Lys589Ter) c.1678A>T (p.Lys560Ter) c.1630A>T (p.Lys544Ter) c.1342A>T (p.Lys448Ter) c.1777A>T (p.Lys593Ter) c.1762A>T (p.Lys588Ter) | |
8 | g.71211161T>C | CA371465818 | EYA1 | c.1693A>G (p.Lys565Glu) c.1591A>G (p.Lys531Glu) c.1588A>G (p.Lys530Glu) c.*972A>G (n.*972A>G) n.2156A>G c.*1370A>G (n.*1370A>G) c.1780A>G (p.Lys594Glu) c.1675A>G (p.Lys559Glu) n.763A>G c.1672A>G (p.Lys558Glu) c.1594A>G (p.Lys532Glu) c.1690A>G (p.Lys564Glu) n.2188A>G c.1327A>G (p.Lys443Glu) c.1765A>G (p.Lys589Glu) c.1678A>G (p.Lys560Glu) c.1630A>G (p.Lys544Glu) c.1342A>G (p.Lys448Glu) c.1777A>G (p.Lys593Glu) c.1762A>G (p.Lys588Glu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.71211161T>G | CA371465819 | EYA1 | c.1693A>C (p.Lys565Gln) c.1591A>C (p.Lys531Gln) c.1588A>C (p.Lys530Gln) c.*972A>C (n.*972A>C) n.2156A>C c.*1370A>C (n.*1370A>C) c.1780A>C (p.Lys594Gln) c.1675A>C (p.Lys559Gln) n.763A>C c.1672A>C (p.Lys558Gln) c.1594A>C (p.Lys532Gln) c.1690A>C (p.Lys564Gln) n.2188A>C c.1327A>C (p.Lys443Gln) c.1765A>C (p.Lys589Gln) c.1678A>C (p.Lys560Gln) c.1630A>C (p.Lys544Gln) c.1342A>C (p.Lys448Gln) c.1777A>C (p.Lys593Gln) c.1762A>C (p.Lys588Gln) | |
8 | g.71211161T= | CA1792681555 | EYA1 | c.1693A= (p.Lys565=) c.1591A= (p.Lys531=) c.1588A= (p.Lys530=) c.*972A= (n.*972A=) n.2156A= c.*1370A= (n.*1370A=) c.1780A= (p.Lys594=) c.1675A= (p.Lys559=) n.763A= c.1672A= (p.Lys558=) c.1594A= (p.Lys532=) c.1690A= (p.Lys564=) n.2188A= c.1327A= (p.Lys443=) c.1765A= (p.Lys589=) c.1678A= (p.Lys560=) c.1630A= (p.Lys544=) c.1342A= (p.Lys448=) c.1777A= (p.Lys593=) c.1762A= (p.Lys588=) | |
8 | g.71211162T>A | CA461323668 | EYA1 | c.1692A>T (p.Ala564=) c.1590A>T (p.Ala530=) c.1587A>T (p.Ala529=) c.*971A>T (n.*971A>T) n.2155A>T c.*1369A>T (n.*1369A>T) c.1779A>T (p.Ala593=) c.1674A>T (p.Ala558=) n.762A>T c.1671A>T (p.Ala557=) c.1593A>T (p.Ala531=) c.1689A>T (p.Ala563=) n.2187A>T c.1326A>T (p.Ala442=) c.1764A>T (p.Ala588=) c.1677A>T (p.Ala559=) c.1629A>T (p.Ala543=) c.1341A>T (p.Ala447=) c.1776A>T (p.Ala592=) c.1761A>T (p.Ala587=) | |
8 | g.71211162T>C | CA461323669 | EYA1 | c.1692A>G (p.Ala564=) c.1590A>G (p.Ala530=) c.1587A>G (p.Ala529=) c.*971A>G (n.*971A>G) n.2155A>G c.*1369A>G (n.*1369A>G) c.1779A>G (p.Ala593=) c.1674A>G (p.Ala558=) n.762A>G c.1671A>G (p.Ala557=) c.1593A>G (p.Ala531=) c.1689A>G (p.Ala563=) n.2187A>G c.1326A>G (p.Ala442=) c.1764A>G (p.Ala588=) c.1677A>G (p.Ala559=) c.1629A>G (p.Ala543=) c.1341A>G (p.Ala447=) c.1776A>G (p.Ala592=) c.1761A>G (p.Ala587=) | |
8 | g.71211162T>G | CA461323670 | EYA1 | c.1692A>C (p.Ala564=) c.1590A>C (p.Ala530=) c.1587A>C (p.Ala529=) c.*971A>C (n.*971A>C) n.2155A>C c.*1369A>C (n.*1369A>C) c.1779A>C (p.Ala593=) c.1674A>C (p.Ala558=) n.762A>C c.1671A>C (p.Ala557=) c.1593A>C (p.Ala531=) c.1689A>C (p.Ala563=) n.2187A>C c.1326A>C (p.Ala442=) c.1764A>C (p.Ala588=) c.1677A>C (p.Ala559=) c.1629A>C (p.Ala543=) c.1341A>C (p.Ala447=) c.1776A>C (p.Ala592=) c.1761A>C (p.Ala587=) | |
8 | g.71211163del | CA2695209812 | EYA1 | c.1691del (p.Ala564GlufsTer?) c.1589del (p.Ala530GlufsTer?) c.1586del (p.Ala529GlufsTer?) c.*970del (n.*970del) n.2154del c.*1368del (n.*1368del) c.1778del (p.Ala593GlufsTer?) c.1673del (p.Ala558GlufsTer?) n.761del c.1670del (p.Ala557GlufsTer?) c.1592del (p.Ala531GlufsTer?) c.1688del (p.Ala563GlufsTer?) n.2186del c.1325del (p.Ala442GlufsTer?) c.1763del (p.Ala588GlufsTer30) c.1778del (p.Ala593GlufsTer30) c.1676del (p.Ala559GlufsTer?) c.1691del (p.Ala564GlufsTer30) c.1688del (p.Ala563GlufsTer30) c.1628del (p.Ala543GlufsTer30) c.1592del (p.Ala531GlufsTer30) c.1340del (p.Ala447GlufsTer30) c.1763del (p.Ala588GlufsTer?) c.1775del (p.Ala592GlufsTer?) c.1760del (p.Ala587GlufsTer?) c.1778del (p.Ala593GlufsTer25) c.1628del (p.Ala543GlufsTer?) c.1340del (p.Ala447GlufsTer?) | |
8 | g.71211163G>A | CA371465820 | EYA1 | c.1691C>T (p.Ala564Val) c.1589C>T (p.Ala530Val) c.1586C>T (p.Ala529Val) c.*970C>T (n.*970C>T) n.2154C>T c.*1368C>T (n.*1368C>T) c.1778C>T (p.Ala593Val) c.1673C>T (p.Ala558Val) n.761C>T c.1670C>T (p.Ala557Val) c.1592C>T (p.Ala531Val) c.1688C>T (p.Ala563Val) n.2186C>T c.1325C>T (p.Ala442Val) c.1763C>T (p.Ala588Val) c.1676C>T (p.Ala559Val) c.1628C>T (p.Ala543Val) c.1340C>T (p.Ala447Val) c.1775C>T (p.Ala592Val) c.1760C>T (p.Ala587Val) | |
8 | g.71211163G>C | CA4779391 | EYA1 | c.1691C>G (p.Ala564Gly) c.1589C>G (p.Ala530Gly) c.1586C>G (p.Ala529Gly) c.*970C>G (n.*970C>G) n.2154C>G c.*1368C>G (n.*1368C>G) c.1778C>G (p.Ala593Gly) c.1673C>G (p.Ala558Gly) n.761C>G c.1670C>G (p.Ala557Gly) c.1592C>G (p.Ala531Gly) c.1688C>G (p.Ala563Gly) n.2186C>G c.1325C>G (p.Ala442Gly) c.1763C>G (p.Ala588Gly) c.1676C>G (p.Ala559Gly) c.1628C>G (p.Ala543Gly) c.1340C>G (p.Ala447Gly) c.1775C>G (p.Ala592Gly) c.1760C>G (p.Ala587Gly) | dbSNP ExAC gnomAD v3 gnomAD v4 |
8 | g.71211163G= | CA1792681557 | EYA1 | c.1691C= (p.Ala564=) c.1589C= (p.Ala530=) c.1586C= (p.Ala529=) c.*970C= (n.*970C=) n.2154C= c.*1368C= (n.*1368C=) c.1778C= (p.Ala593=) c.1673C= (p.Ala558=) n.761C= c.1670C= (p.Ala557=) c.1592C= (p.Ala531=) c.1688C= (p.Ala563=) n.2186C= c.1325C= (p.Ala442=) c.1763C= (p.Ala588=) c.1676C= (p.Ala559=) c.1628C= (p.Ala543=) c.1340C= (p.Ala447=) c.1775C= (p.Ala592=) c.1760C= (p.Ala587=) | |
8 | g.71211163G>T | CA371465821 | EYA1 | c.1691C>A (p.Ala564Glu) c.1589C>A (p.Ala530Glu) c.1586C>A (p.Ala529Glu) c.*970C>A (n.*970C>A) n.2154C>A c.*1368C>A (n.*1368C>A) c.1778C>A (p.Ala593Glu) c.1673C>A (p.Ala558Glu) n.761C>A c.1670C>A (p.Ala557Glu) c.1592C>A (p.Ala531Glu) c.1688C>A (p.Ala563Glu) n.2186C>A c.1325C>A (p.Ala442Glu) c.1763C>A (p.Ala588Glu) c.1676C>A (p.Ala559Glu) c.1628C>A (p.Ala543Glu) c.1340C>A (p.Ala447Glu) c.1775C>A (p.Ala592Glu) c.1760C>A (p.Ala587Glu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.71211164C>A | CA371465824 | EYA1 | c.1690G>T (p.Ala564Ser) c.1588G>T (p.Ala530Ser) c.1585G>T (p.Ala529Ser) c.*969G>T (n.*969G>T) n.2153G>T c.*1367G>T (n.*1367G>T) c.1777G>T (p.Ala593Ser) c.1672G>T (p.Ala558Ser) n.760G>T c.1669G>T (p.Ala557Ser) c.1591G>T (p.Ala531Ser) c.1687G>T (p.Ala563Ser) n.2185G>T c.1324G>T (p.Ala442Ser) c.1762G>T (p.Ala588Ser) c.1675G>T (p.Ala559Ser) c.1627G>T (p.Ala543Ser) c.1339G>T (p.Ala447Ser) c.1774G>T (p.Ala592Ser) c.1759G>T (p.Ala587Ser) | |
8 | g.71211164C= | CA1792681560 | EYA1 | c.1690G= (p.Ala564=) c.1588G= (p.Ala530=) c.1585G= (p.Ala529=) c.*969G= (n.*969G=) n.2153G= c.*1367G= (n.*1367G=) c.1777G= (p.Ala593=) c.1672G= (p.Ala558=) n.760G= c.1669G= (p.Ala557=) c.1591G= (p.Ala531=) c.1687G= (p.Ala563=) n.2185G= c.1324G= (p.Ala442=) c.1762G= (p.Ala588=) c.1675G= (p.Ala559=) c.1627G= (p.Ala543=) c.1339G= (p.Ala447=) c.1774G= (p.Ala592=) c.1759G= (p.Ala587=) | |
8 | g.71211164C>G | CA371465822 | EYA1 | c.1690G>C (p.Ala564Pro) c.1588G>C (p.Ala530Pro) c.1585G>C (p.Ala529Pro) c.*969G>C (n.*969G>C) n.2153G>C c.*1367G>C (n.*1367G>C) c.1777G>C (p.Ala593Pro) c.1672G>C (p.Ala558Pro) n.760G>C c.1669G>C (p.Ala557Pro) c.1591G>C (p.Ala531Pro) c.1687G>C (p.Ala563Pro) n.2185G>C c.1324G>C (p.Ala442Pro) c.1762G>C (p.Ala588Pro) c.1675G>C (p.Ala559Pro) c.1627G>C (p.Ala543Pro) c.1339G>C (p.Ala447Pro) c.1774G>C (p.Ala592Pro) c.1759G>C (p.Ala587Pro) | |
8 | g.71211164C>T | CA371465823 | EYA1 | c.1690G>A (p.Ala564Thr) c.1588G>A (p.Ala530Thr) c.1585G>A (p.Ala529Thr) c.*969G>A (n.*969G>A) n.2153G>A c.*1367G>A (n.*1367G>A) c.1777G>A (p.Ala593Thr) c.1672G>A (p.Ala558Thr) n.760G>A c.1669G>A (p.Ala557Thr) c.1591G>A (p.Ala531Thr) c.1687G>A (p.Ala563Thr) n.2185G>A c.1324G>A (p.Ala442Thr) c.1762G>A (p.Ala588Thr) c.1675G>A (p.Ala559Thr) c.1627G>A (p.Ala543Thr) c.1339G>A (p.Ala447Thr) c.1774G>A (p.Ala592Thr) c.1759G>A (p.Ala587Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.71211165T>A | CA461323671 | EYA1 | c.1689A>T (p.Gly563=) c.1587A>T (p.Gly529=) c.1584A>T (p.Gly528=) c.*968A>T (n.*968A>T) n.2152A>T c.*1366A>T (n.*1366A>T) c.1776A>T (p.Gly592=) c.1671A>T (p.Gly557=) n.759A>T c.1668A>T (p.Gly556=) c.1590A>T (p.Gly530=) c.1686A>T (p.Gly562=) n.2184A>T c.1323A>T (p.Gly441=) c.1761A>T (p.Gly587=) c.1674A>T (p.Gly558=) c.1626A>T (p.Gly542=) c.1338A>T (p.Gly446=) c.1773A>T (p.Gly591=) c.1758A>T (p.Gly586=) | gnomAD v4 |
8 | g.71211165T>C | CA461323672 | EYA1 | c.1689A>G (p.Gly563=) c.1587A>G (p.Gly529=) c.1584A>G (p.Gly528=) c.*968A>G (n.*968A>G) n.2152A>G c.*1366A>G (n.*1366A>G) c.1776A>G (p.Gly592=) c.1671A>G (p.Gly557=) n.759A>G c.1668A>G (p.Gly556=) c.1590A>G (p.Gly530=) c.1686A>G (p.Gly562=) n.2184A>G c.1323A>G (p.Gly441=) c.1761A>G (p.Gly587=) c.1674A>G (p.Gly558=) c.1626A>G (p.Gly542=) c.1338A>G (p.Gly446=) c.1773A>G (p.Gly591=) c.1758A>G (p.Gly586=) | |
8 | g.71211165T>G | CA461323673 | EYA1 | c.1689A>C (p.Gly563=) c.1587A>C (p.Gly529=) c.1584A>C (p.Gly528=) c.*968A>C (n.*968A>C) n.2152A>C c.*1366A>C (n.*1366A>C) c.1776A>C (p.Gly592=) c.1671A>C (p.Gly557=) n.759A>C c.1668A>C (p.Gly556=) c.1590A>C (p.Gly530=) c.1686A>C (p.Gly562=) n.2184A>C c.1323A>C (p.Gly441=) c.1761A>C (p.Gly587=) c.1674A>C (p.Gly558=) c.1626A>C (p.Gly542=) c.1338A>C (p.Gly446=) c.1773A>C (p.Gly591=) c.1758A>C (p.Gly586=) | |
8 | g.71211166C>A | CA371465825 | EYA1 | c.1688G>T (p.Gly563Val) c.1586G>T (p.Gly529Val) c.1583G>T (p.Gly528Val) c.*967G>T (n.*967G>T) n.2151G>T c.*1365G>T (n.*1365G>T) c.1775G>T (p.Gly592Val) c.1670G>T (p.Gly557Val) n.758G>T c.1667G>T (p.Gly556Val) c.1589G>T (p.Gly530Val) c.1685G>T (p.Gly562Val) n.2183G>T c.1322G>T (p.Gly441Val) c.1760G>T (p.Gly587Val) c.1673G>T (p.Gly558Val) c.1625G>T (p.Gly542Val) c.1337G>T (p.Gly446Val) c.1772G>T (p.Gly591Val) c.1757G>T (p.Gly586Val) | gnomAD v4 |
8 | g.71211166C= | CA1792681562 | EYA1 | c.1688G= (p.Gly563=) c.1586G= (p.Gly529=) c.1583G= (p.Gly528=) c.*967G= (n.*967G=) n.2151G= c.*1365G= (n.*1365G=) c.1775G= (p.Gly592=) c.1670G= (p.Gly557=) n.758G= c.1667G= (p.Gly556=) c.1589G= (p.Gly530=) c.1685G= (p.Gly562=) n.2183G= c.1322G= (p.Gly441=) c.1760G= (p.Gly587=) c.1673G= (p.Gly558=) c.1625G= (p.Gly542=) c.1337G= (p.Gly446=) c.1772G= (p.Gly591=) c.1757G= (p.Gly586=) | |
8 | g.71211166C>G | CA371465826 | EYA1 | c.1688G>C (p.Gly563Ala) c.1586G>C (p.Gly529Ala) c.1583G>C (p.Gly528Ala) c.*967G>C (n.*967G>C) n.2151G>C c.*1365G>C (n.*1365G>C) c.1775G>C (p.Gly592Ala) c.1670G>C (p.Gly557Ala) n.758G>C c.1667G>C (p.Gly556Ala) c.1589G>C (p.Gly530Ala) c.1685G>C (p.Gly562Ala) n.2183G>C c.1322G>C (p.Gly441Ala) c.1760G>C (p.Gly587Ala) c.1673G>C (p.Gly558Ala) c.1625G>C (p.Gly542Ala) c.1337G>C (p.Gly446Ala) c.1772G>C (p.Gly591Ala) c.1757G>C (p.Gly586Ala) | |
8 | g.71211166C>T | CA371465827 | EYA1 | c.1688G>A (p.Gly563Glu) c.1586G>A (p.Gly529Glu) c.1583G>A (p.Gly528Glu) c.*967G>A (n.*967G>A) n.2151G>A c.*1365G>A (n.*1365G>A) c.1775G>A (p.Gly592Glu) c.1670G>A (p.Gly557Glu) n.758G>A c.1667G>A (p.Gly556Glu) c.1589G>A (p.Gly530Glu) c.1685G>A (p.Gly562Glu) n.2183G>A c.1322G>A (p.Gly441Glu) c.1760G>A (p.Gly587Glu) c.1673G>A (p.Gly558Glu) c.1625G>A (p.Gly542Glu) c.1337G>A (p.Gly446Glu) c.1772G>A (p.Gly591Glu) c.1757G>A (p.Gly586Glu) | dbSNP gnomAD v2 |
8 | g.71211167C>A | CA371465828 | EYA1 | c.1687G>T (p.Gly563Ter) c.1585G>T (p.Gly529Ter) c.1582G>T (p.Gly528Ter) c.*966G>T (n.*966G>T) n.2150G>T c.*1364G>T (n.*1364G>T) c.1774G>T (p.Gly592Ter) c.1669G>T (p.Gly557Ter) n.757G>T c.1666G>T (p.Gly556Ter) c.1588G>T (p.Gly530Ter) c.1684G>T (p.Gly562Ter) n.2182G>T c.1321G>T (p.Gly441Ter) c.1759G>T (p.Gly587Ter) c.1672G>T (p.Gly558Ter) c.1624G>T (p.Gly542Ter) c.1336G>T (p.Gly446Ter) c.1771G>T (p.Gly591Ter) c.1756G>T (p.Gly586Ter) | |
8 | g.71211167C= | CA1792681565 | EYA1 | c.1687G= (p.Gly563=) c.1585G= (p.Gly529=) c.1582G= (p.Gly528=) c.*966G= (n.*966G=) n.2150G= c.*1364G= (n.*1364G=) c.1774G= (p.Gly592=) c.1669G= (p.Gly557=) n.757G= c.1666G= (p.Gly556=) c.1588G= (p.Gly530=) c.1684G= (p.Gly562=) n.2182G= c.1321G= (p.Gly441=) c.1759G= (p.Gly587=) c.1672G= (p.Gly558=) c.1624G= (p.Gly542=) c.1336G= (p.Gly446=) c.1771G= (p.Gly591=) c.1756G= (p.Gly586=) | |
8 | g.71211167C>G | CA371465829 | EYA1 | c.1687G>C (p.Gly563Arg) c.1585G>C (p.Gly529Arg) c.1582G>C (p.Gly528Arg) c.*966G>C (n.*966G>C) n.2150G>C c.*1364G>C (n.*1364G>C) c.1774G>C (p.Gly592Arg) c.1669G>C (p.Gly557Arg) n.757G>C c.1666G>C (p.Gly556Arg) c.1588G>C (p.Gly530Arg) c.1684G>C (p.Gly562Arg) n.2182G>C c.1321G>C (p.Gly441Arg) c.1759G>C (p.Gly587Arg) c.1672G>C (p.Gly558Arg) c.1624G>C (p.Gly542Arg) c.1336G>C (p.Gly446Arg) c.1771G>C (p.Gly591Arg) c.1756G>C (p.Gly586Arg) | |
8 | g.71211167C>T | CA371465830 | EYA1 | c.1687G>A (p.Gly563Arg) c.1585G>A (p.Gly529Arg) c.1582G>A (p.Gly528Arg) c.*966G>A (n.*966G>A) n.2150G>A c.*1364G>A (n.*1364G>A) c.1774G>A (p.Gly592Arg) c.1669G>A (p.Gly557Arg) n.757G>A c.1666G>A (p.Gly556Arg) c.1588G>A (p.Gly530Arg) c.1684G>A (p.Gly562Arg) n.2182G>A c.1321G>A (p.Gly441Arg) c.1759G>A (p.Gly587Arg) c.1672G>A (p.Gly558Arg) c.1624G>A (p.Gly542Arg) c.1336G>A (p.Gly446Arg) c.1771G>A (p.Gly591Arg) c.1756G>A (p.Gly586Arg) | dbSNP gnomAD v2 |
8 | g.71211168T>A | CA371465831 | EYA1 | c.1686A>T (p.Gln562His) c.1584A>T (p.Gln528His) c.1581A>T (p.Gln527His) c.*965A>T (n.*965A>T) n.2149A>T c.*1363A>T (n.*1363A>T) c.1773A>T (p.Gln591His) c.1668A>T (p.Gln556His) n.756A>T c.1665A>T (p.Gln555His) c.1587A>T (p.Gln529His) c.1683A>T (p.Gln561His) n.2181A>T c.1320A>T (p.Gln440His) c.1758A>T (p.Gln586His) c.1671A>T (p.Gln557His) c.1623A>T (p.Gln541His) c.1335A>T (p.Gln445His) c.1770A>T (p.Gln590His) c.1755A>T (p.Gln585His) | |
8 | g.71211168T>C | CA461323674 | EYA1 | c.1686A>G (p.Gln562=) c.1584A>G (p.Gln528=) c.1581A>G (p.Gln527=) c.*965A>G (n.*965A>G) n.2149A>G c.*1363A>G (n.*1363A>G) c.1773A>G (p.Gln591=) c.1668A>G (p.Gln556=) n.756A>G c.1665A>G (p.Gln555=) c.1587A>G (p.Gln529=) c.1683A>G (p.Gln561=) n.2181A>G c.1320A>G (p.Gln440=) c.1758A>G (p.Gln586=) c.1671A>G (p.Gln557=) c.1623A>G (p.Gln541=) c.1335A>G (p.Gln445=) c.1770A>G (p.Gln590=) c.1755A>G (p.Gln585=) | |
8 | g.71211168T>G | CA371465832 | EYA1 | c.1686A>C (p.Gln562His) c.1584A>C (p.Gln528His) c.1581A>C (p.Gln527His) c.*965A>C (n.*965A>C) n.2149A>C c.*1363A>C (n.*1363A>C) c.1773A>C (p.Gln591His) c.1668A>C (p.Gln556His) n.756A>C c.1665A>C (p.Gln555His) c.1587A>C (p.Gln529His) c.1683A>C (p.Gln561His) n.2181A>C c.1320A>C (p.Gln440His) c.1758A>C (p.Gln586His) c.1671A>C (p.Gln557His) c.1623A>C (p.Gln541His) c.1335A>C (p.Gln445His) c.1770A>C (p.Gln590His) c.1755A>C (p.Gln585His) | |
8 | g.71211169T>A | CA371465833 | EYA1 | c.1685A>T (p.Gln562Leu) c.1583A>T (p.Gln528Leu) c.1580A>T (p.Gln527Leu) c.*964A>T (n.*964A>T) n.2148A>T c.*1362A>T (n.*1362A>T) c.1772A>T (p.Gln591Leu) c.1667A>T (p.Gln556Leu) n.755A>T c.1664A>T (p.Gln555Leu) c.1586A>T (p.Gln529Leu) c.1682A>T (p.Gln561Leu) n.2180A>T c.1319A>T (p.Gln440Leu) c.1757A>T (p.Gln586Leu) c.1670A>T (p.Gln557Leu) c.1622A>T (p.Gln541Leu) c.1334A>T (p.Gln445Leu) c.1769A>T (p.Gln590Leu) c.1754A>T (p.Gln585Leu) | |
8 | g.71211169T>C | CA179207073 | EYA1 | c.1685A>G (p.Gln562Arg) c.1583A>G (p.Gln528Arg) c.1580A>G (p.Gln527Arg) c.*964A>G (n.*964A>G) n.2148A>G c.*1362A>G (n.*1362A>G) c.1772A>G (p.Gln591Arg) c.1667A>G (p.Gln556Arg) n.755A>G c.1664A>G (p.Gln555Arg) c.1586A>G (p.Gln529Arg) c.1682A>G (p.Gln561Arg) n.2180A>G c.1319A>G (p.Gln440Arg) c.1757A>G (p.Gln586Arg) c.1670A>G (p.Gln557Arg) c.1622A>G (p.Gln541Arg) c.1334A>G (p.Gln445Arg) c.1769A>G (p.Gln590Arg) c.1754A>G (p.Gln585Arg) | dbSNP |
8 | g.71211169T>G | CA371465834 | EYA1 | c.1685A>C (p.Gln562Pro) c.1583A>C (p.Gln528Pro) c.1580A>C (p.Gln527Pro) c.*964A>C (n.*964A>C) n.2148A>C c.*1362A>C (n.*1362A>C) c.1772A>C (p.Gln591Pro) c.1667A>C (p.Gln556Pro) n.755A>C c.1664A>C (p.Gln555Pro) c.1586A>C (p.Gln529Pro) c.1682A>C (p.Gln561Pro) n.2180A>C c.1319A>C (p.Gln440Pro) c.1757A>C (p.Gln586Pro) c.1670A>C (p.Gln557Pro) c.1622A>C (p.Gln541Pro) c.1334A>C (p.Gln445Pro) c.1769A>C (p.Gln590Pro) c.1754A>C (p.Gln585Pro) | |
8 | g.71211169T= | CA1792681567 | EYA1 | c.1685A= (p.Gln562=) c.1583A= (p.Gln528=) c.1580A= (p.Gln527=) c.*964A= (n.*964A=) n.2148A= c.*1362A= (n.*1362A=) c.1772A= (p.Gln591=) c.1667A= (p.Gln556=) n.755A= c.1664A= (p.Gln555=) c.1586A= (p.Gln529=) c.1682A= (p.Gln561=) n.2180A= c.1319A= (p.Gln440=) c.1757A= (p.Gln586=) c.1670A= (p.Gln557=) c.1622A= (p.Gln541=) c.1334A= (p.Gln445=) c.1769A= (p.Gln590=) c.1754A= (p.Gln585=) | |
8 | g.71211170G>A | CA371465837 | EYA1 | c.1684C>T (p.Gln562Ter) c.1582C>T (p.Gln528Ter) c.1579C>T (p.Gln527Ter) c.*963C>T (n.*963C>T) n.2147C>T c.*1361C>T (n.*1361C>T) c.1771C>T (p.Gln591Ter) c.1666C>T (p.Gln556Ter) n.754C>T c.1663C>T (p.Gln555Ter) c.1585C>T (p.Gln529Ter) c.1681C>T (p.Gln561Ter) n.2179C>T c.1318C>T (p.Gln440Ter) c.1756C>T (p.Gln586Ter) c.1669C>T (p.Gln557Ter) c.1621C>T (p.Gln541Ter) c.1333C>T (p.Gln445Ter) c.1768C>T (p.Gln590Ter) c.1753C>T (p.Gln585Ter) | ClinVar dbSNP |
8 | g.71211170G>C | CA371465836 | EYA1 | c.1684C>G (p.Gln562Glu) c.1582C>G (p.Gln528Glu) c.1579C>G (p.Gln527Glu) c.*963C>G (n.*963C>G) n.2147C>G c.*1361C>G (n.*1361C>G) c.1771C>G (p.Gln591Glu) c.1666C>G (p.Gln556Glu) n.754C>G c.1663C>G (p.Gln555Glu) c.1585C>G (p.Gln529Glu) c.1681C>G (p.Gln561Glu) n.2179C>G c.1318C>G (p.Gln440Glu) c.1756C>G (p.Gln586Glu) c.1669C>G (p.Gln557Glu) c.1621C>G (p.Gln541Glu) c.1333C>G (p.Gln445Glu) c.1768C>G (p.Gln590Glu) c.1753C>G (p.Gln585Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71211170G= | CA1792681577 | EYA1 | c.1684C= (p.Gln562=) c.1582C= (p.Gln528=) c.1579C= (p.Gln527=) c.*963C= (n.*963C=) n.2147C= c.*1361C= (n.*1361C=) c.1771C= (p.Gln591=) c.1666C= (p.Gln556=) n.754C= c.1663C= (p.Gln555=) c.1585C= (p.Gln529=) c.1681C= (p.Gln561=) n.2179C= c.1318C= (p.Gln440=) c.1756C= (p.Gln586=) c.1669C= (p.Gln557=) c.1621C= (p.Gln541=) c.1333C= (p.Gln445=) c.1768C= (p.Gln590=) c.1753C= (p.Gln585=) | |
8 | g.71211170G>T | CA371465835 | EYA1 | c.1684C>A (p.Gln562Lys) c.1582C>A (p.Gln528Lys) c.1579C>A (p.Gln527Lys) c.*963C>A (n.*963C>A) n.2147C>A c.*1361C>A (n.*1361C>A) c.1771C>A (p.Gln591Lys) c.1666C>A (p.Gln556Lys) n.754C>A c.1663C>A (p.Gln555Lys) c.1585C>A (p.Gln529Lys) c.1681C>A (p.Gln561Lys) n.2179C>A c.1318C>A (p.Gln440Lys) c.1756C>A (p.Gln586Lys) c.1669C>A (p.Gln557Lys) c.1621C>A (p.Gln541Lys) c.1333C>A (p.Gln445Lys) c.1768C>A (p.Gln590Lys) c.1753C>A (p.Gln585Lys) | COSMIC COSMIC |
8 | g.71211170_71211173delinsGTTC | CA1792681579 | EYA1 | c.1681_1684delinsGAAC (p.Glu561=) c.1579_1582delinsGAAC (p.Glu527=) c.1576_1579delinsGAAC (p.Glu526=) c.*960_*963delinsGAAC (n.*960_*963delinsGAAC) n.2144_2147delinsGAAC c.*1358_*1361delinsGAAC (n.*1358_*1361delinsGAAC) c.1768_1771delinsGAAC (p.Glu590=) c.1663_1666delinsGAAC (p.Glu555=) n.751_754delinsGAAC c.1660_1663delinsGAAC (p.Glu554=) c.1582_1585delinsGAAC (p.Glu528=) c.1678_1681delinsGAAC (p.Glu560=) n.2176_2179delinsGAAC c.1315_1318delinsGAAC (p.Glu439=) c.1753_1756delinsGAAC (p.Glu585=) c.1666_1669delinsGAAC (p.Glu556=) c.1618_1621delinsGAAC (p.Glu540=) c.1330_1333delinsGAAC (p.Glu444=) c.1765_1768delinsGAAC (p.Glu589=) c.1750_1753delinsGAAC (p.Glu584=) | |
8 | g.71211171T>A | CA371465838 | EYA1 | c.1683A>T (p.Glu561Asp) c.1581A>T (p.Glu527Asp) c.1578A>T (p.Glu526Asp) c.*962A>T (n.*962A>T) n.2146A>T c.*1360A>T (n.*1360A>T) c.1770A>T (p.Glu590Asp) c.1665A>T (p.Glu555Asp) n.753A>T c.1662A>T (p.Glu554Asp) c.1584A>T (p.Glu528Asp) c.1680A>T (p.Glu560Asp) n.2178A>T c.1317A>T (p.Glu439Asp) c.1755A>T (p.Glu585Asp) c.1668A>T (p.Glu556Asp) c.1620A>T (p.Glu540Asp) c.1332A>T (p.Glu444Asp) c.1767A>T (p.Glu589Asp) c.1752A>T (p.Glu584Asp) | |
8 | g.71211171T>C | CA461323675 | EYA1 | c.1683A>G (p.Glu561=) c.1581A>G (p.Glu527=) c.1578A>G (p.Glu526=) c.*962A>G (n.*962A>G) n.2146A>G c.*1360A>G (n.*1360A>G) c.1770A>G (p.Glu590=) c.1665A>G (p.Glu555=) n.753A>G c.1662A>G (p.Glu554=) c.1584A>G (p.Glu528=) c.1680A>G (p.Glu560=) n.2178A>G c.1317A>G (p.Glu439=) c.1755A>G (p.Glu585=) c.1668A>G (p.Glu556=) c.1620A>G (p.Glu540=) c.1332A>G (p.Glu444=) c.1767A>G (p.Glu589=) c.1752A>G (p.Glu584=) | dbSNP gnomAD v4 |
8 | g.71211171T>G | CA371465839 | EYA1 | c.1683A>C (p.Glu561Asp) c.1581A>C (p.Glu527Asp) c.1578A>C (p.Glu526Asp) c.*962A>C (n.*962A>C) n.2146A>C c.*1360A>C (n.*1360A>C) c.1770A>C (p.Glu590Asp) c.1665A>C (p.Glu555Asp) n.753A>C c.1662A>C (p.Glu554Asp) c.1584A>C (p.Glu528Asp) c.1680A>C (p.Glu560Asp) n.2178A>C c.1317A>C (p.Glu439Asp) c.1755A>C (p.Glu585Asp) c.1668A>C (p.Glu556Asp) c.1620A>C (p.Glu540Asp) c.1332A>C (p.Glu444Asp) c.1767A>C (p.Glu589Asp) c.1752A>C (p.Glu584Asp) | |
8 | g.71211171T= | CA1792681583 | EYA1 | c.1683A= (p.Glu561=) c.1581A= (p.Glu527=) c.1578A= (p.Glu526=) c.*962A= (n.*962A=) n.2146A= c.*1360A= (n.*1360A=) c.1770A= (p.Glu590=) c.1665A= (p.Glu555=) n.753A= c.1662A= (p.Glu554=) c.1584A= (p.Glu528=) c.1680A= (p.Glu560=) n.2178A= c.1317A= (p.Glu439=) c.1755A= (p.Glu585=) c.1668A= (p.Glu556=) c.1620A= (p.Glu540=) c.1332A= (p.Glu444=) c.1767A= (p.Glu589=) c.1752A= (p.Glu584=) | |
8 | g.71211178_71211180del | CA179207077 | EYA1 | c.1681_1683del (p.Glu561del) c.1579_1581del (p.Glu527del) c.1576_1578del (p.Glu526del) c.*960_*962del (n.*960_*962del) n.2144_2146del c.*1358_*1360del (n.*1358_*1360del) c.1768_1770del (p.Glu590del) c.1663_1665del (p.Glu555del) n.751_753del c.1660_1662del (p.Glu554del) c.1582_1584del (p.Glu528del) c.1678_1680del (p.Glu560del) n.2176_2178del c.1315_1317del (p.Glu439del) c.1753_1755del (p.Glu585del) c.1666_1668del (p.Glu556del) c.1618_1620del (p.Glu540del) c.1330_1332del (p.Glu444del) c.1765_1767del (p.Glu589del) c.1750_1752del (p.Glu584del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.71211172T>A | CA371465840 | EYA1 | c.1682A>T (p.Glu561Val) c.1580A>T (p.Glu527Val) c.1577A>T (p.Glu526Val) c.*961A>T (n.*961A>T) n.2145A>T c.*1359A>T (n.*1359A>T) c.1769A>T (p.Glu590Val) c.1664A>T (p.Glu555Val) n.752A>T c.1661A>T (p.Glu554Val) c.1583A>T (p.Glu528Val) c.1679A>T (p.Glu560Val) n.2177A>T c.1316A>T (p.Glu439Val) c.1754A>T (p.Glu585Val) c.1667A>T (p.Glu556Val) c.1619A>T (p.Glu540Val) c.1331A>T (p.Glu444Val) c.1766A>T (p.Glu589Val) c.1751A>T (p.Glu584Val) | |
8 | g.71211172T>C | CA371465841 | EYA1 | c.1682A>G (p.Glu561Gly) c.1580A>G (p.Glu527Gly) c.1577A>G (p.Glu526Gly) c.*961A>G (n.*961A>G) n.2145A>G c.*1359A>G (n.*1359A>G) c.1769A>G (p.Glu590Gly) c.1664A>G (p.Glu555Gly) n.752A>G c.1661A>G (p.Glu554Gly) c.1583A>G (p.Glu528Gly) c.1679A>G (p.Glu560Gly) n.2177A>G c.1316A>G (p.Glu439Gly) c.1754A>G (p.Glu585Gly) c.1667A>G (p.Glu556Gly) c.1619A>G (p.Glu540Gly) c.1331A>G (p.Glu444Gly) c.1766A>G (p.Glu589Gly) c.1751A>G (p.Glu584Gly) | |
8 | g.71211172T>G | CA371465842 | EYA1 | c.1682A>C (p.Glu561Ala) c.1580A>C (p.Glu527Ala) c.1577A>C (p.Glu526Ala) c.*961A>C (n.*961A>C) n.2145A>C c.*1359A>C (n.*1359A>C) c.1769A>C (p.Glu590Ala) c.1664A>C (p.Glu555Ala) n.752A>C c.1661A>C (p.Glu554Ala) c.1583A>C (p.Glu528Ala) c.1679A>C (p.Glu560Ala) n.2177A>C c.1316A>C (p.Glu439Ala) c.1754A>C (p.Glu585Ala) c.1667A>C (p.Glu556Ala) c.1619A>C (p.Glu540Ala) c.1331A>C (p.Glu444Ala) c.1766A>C (p.Glu589Ala) c.1751A>C (p.Glu584Ala) | |
8 | g.71211173C>A | CA371465845 | EYA1 | c.1681G>T (p.Glu561Ter) c.1579G>T (p.Glu527Ter) c.1576G>T (p.Glu526Ter) c.*960G>T (n.*960G>T) n.2144G>T c.*1358G>T (n.*1358G>T) c.1768G>T (p.Glu590Ter) c.1663G>T (p.Glu555Ter) n.751G>T c.1660G>T (p.Glu554Ter) c.1582G>T (p.Glu528Ter) c.1678G>T (p.Glu560Ter) n.2176G>T c.1315G>T (p.Glu439Ter) c.1753G>T (p.Glu585Ter) c.1666G>T (p.Glu556Ter) c.1618G>T (p.Glu540Ter) c.1330G>T (p.Glu444Ter) c.1765G>T (p.Glu589Ter) c.1750G>T (p.Glu584Ter) | |
8 | g.71211173C= | CA1792681588 | EYA1 | c.1681G= (p.Glu561=) c.1579G= (p.Glu527=) c.1576G= (p.Glu526=) c.*960G= (n.*960G=) n.2144G= c.*1358G= (n.*1358G=) c.1768G= (p.Glu590=) c.1663G= (p.Glu555=) n.751G= c.1660G= (p.Glu554=) c.1582G= (p.Glu528=) c.1678G= (p.Glu560=) n.2176G= c.1315G= (p.Glu439=) c.1753G= (p.Glu585=) c.1666G= (p.Glu556=) c.1618G= (p.Glu540=) c.1330G= (p.Glu444=) c.1765G= (p.Glu589=) c.1750G= (p.Glu584=) | |
8 | g.71211173C>G | CA371465843 | EYA1 | c.1681G>C (p.Glu561Gln) c.1579G>C (p.Glu527Gln) c.1576G>C (p.Glu526Gln) c.*960G>C (n.*960G>C) n.2144G>C c.*1358G>C (n.*1358G>C) c.1768G>C (p.Glu590Gln) c.1663G>C (p.Glu555Gln) n.751G>C c.1660G>C (p.Glu554Gln) c.1582G>C (p.Glu528Gln) c.1678G>C (p.Glu560Gln) n.2176G>C c.1315G>C (p.Glu439Gln) c.1753G>C (p.Glu585Gln) c.1666G>C (p.Glu556Gln) c.1618G>C (p.Glu540Gln) c.1330G>C (p.Glu444Gln) c.1765G>C (p.Glu589Gln) c.1750G>C (p.Glu584Gln) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.71211173C>T | CA371465844 | EYA1 | c.1681G>A (p.Glu561Lys) c.1579G>A (p.Glu527Lys) c.1576G>A (p.Glu526Lys) c.*960G>A (n.*960G>A) n.2144G>A c.*1358G>A (n.*1358G>A) c.1768G>A (p.Glu590Lys) c.1663G>A (p.Glu555Lys) n.751G>A c.1660G>A (p.Glu554Lys) c.1582G>A (p.Glu528Lys) c.1678G>A (p.Glu560Lys) n.2176G>A c.1315G>A (p.Glu439Lys) c.1753G>A (p.Glu585Lys) c.1666G>A (p.Glu556Lys) c.1618G>A (p.Glu540Lys) c.1330G>A (p.Glu444Lys) c.1765G>A (p.Glu589Lys) c.1750G>A (p.Glu584Lys) | dbSNP gnomAD v4 COSMIC COSMIC |
8 | g.71211174T>A | CA371465846 | EYA1 | c.1680A>T (p.Glu560Asp) c.1578A>T (p.Glu526Asp) c.1575A>T (p.Glu525Asp) c.*959A>T (n.*959A>T) n.2143A>T c.*1357A>T (n.*1357A>T) c.1767A>T (p.Glu589Asp) c.1662A>T (p.Glu554Asp) n.750A>T c.1659A>T (p.Glu553Asp) c.1581A>T (p.Glu527Asp) c.1677A>T (p.Glu559Asp) n.2175A>T c.1314A>T (p.Glu438Asp) c.1752A>T (p.Glu584Asp) c.1665A>T (p.Glu555Asp) c.1617A>T (p.Glu539Asp) c.1329A>T (p.Glu443Asp) c.1764A>T (p.Glu588Asp) c.1749A>T (p.Glu583Asp) | |
8 | g.71211174T>C | CA461323676 | EYA1 | c.1680A>G (p.Glu560=) c.1578A>G (p.Glu526=) c.1575A>G (p.Glu525=) c.*959A>G (n.*959A>G) n.2143A>G c.*1357A>G (n.*1357A>G) c.1767A>G (p.Glu589=) c.1662A>G (p.Glu554=) n.750A>G c.1659A>G (p.Glu553=) c.1581A>G (p.Glu527=) c.1677A>G (p.Glu559=) n.2175A>G c.1314A>G (p.Glu438=) c.1752A>G (p.Glu584=) c.1665A>G (p.Glu555=) c.1617A>G (p.Glu539=) c.1329A>G (p.Glu443=) c.1764A>G (p.Glu588=) c.1749A>G (p.Glu583=) | dbSNP gnomAD v4 |
8 | g.71211174T>G | CA371465847 | EYA1 | c.1680A>C (p.Glu560Asp) c.1578A>C (p.Glu526Asp) c.1575A>C (p.Glu525Asp) c.*959A>C (n.*959A>C) n.2143A>C c.*1357A>C (n.*1357A>C) c.1767A>C (p.Glu589Asp) c.1662A>C (p.Glu554Asp) n.750A>C c.1659A>C (p.Glu553Asp) c.1581A>C (p.Glu527Asp) c.1677A>C (p.Glu559Asp) n.2175A>C c.1314A>C (p.Glu438Asp) c.1752A>C (p.Glu584Asp) c.1665A>C (p.Glu555Asp) c.1617A>C (p.Glu539Asp) c.1329A>C (p.Glu443Asp) c.1764A>C (p.Glu588Asp) c.1749A>C (p.Glu583Asp) | gnomAD v4 |
8 | g.71211174T= | CA1792681592 | EYA1 | c.1680A= (p.Glu560=) c.1578A= (p.Glu526=) c.1575A= (p.Glu525=) c.*959A= (n.*959A=) n.2143A= c.*1357A= (n.*1357A=) c.1767A= (p.Glu589=) c.1662A= (p.Glu554=) n.750A= c.1659A= (p.Glu553=) c.1581A= (p.Glu527=) c.1677A= (p.Glu559=) n.2175A= c.1314A= (p.Glu438=) c.1752A= (p.Glu584=) c.1665A= (p.Glu555=) c.1617A= (p.Glu539=) c.1329A= (p.Glu443=) c.1764A= (p.Glu588=) c.1749A= (p.Glu583=) | |
8 | g.71211175T>A | CA371465848 | EYA1 | c.1679A>T (p.Glu560Val) c.1577A>T (p.Glu526Val) c.1574A>T (p.Glu525Val) c.*958A>T (n.*958A>T) n.2142A>T c.*1356A>T (n.*1356A>T) c.1766A>T (p.Glu589Val) c.1661A>T (p.Glu554Val) n.749A>T c.1658A>T (p.Glu553Val) c.1580A>T (p.Glu527Val) c.1676A>T (p.Glu559Val) n.2174A>T c.1313A>T (p.Glu438Val) c.1751A>T (p.Glu584Val) c.1664A>T (p.Glu555Val) c.1616A>T (p.Glu539Val) c.1328A>T (p.Glu443Val) c.1763A>T (p.Glu588Val) c.1748A>T (p.Glu583Val) | |
8 | g.71211175T>C | CA371465849 | EYA1 | c.1679A>G (p.Glu560Gly) c.1577A>G (p.Glu526Gly) c.1574A>G (p.Glu525Gly) c.*958A>G (n.*958A>G) n.2142A>G c.*1356A>G (n.*1356A>G) c.1766A>G (p.Glu589Gly) c.1661A>G (p.Glu554Gly) n.749A>G c.1658A>G (p.Glu553Gly) c.1580A>G (p.Glu527Gly) c.1676A>G (p.Glu559Gly) n.2174A>G c.1313A>G (p.Glu438Gly) c.1751A>G (p.Glu584Gly) c.1664A>G (p.Glu555Gly) c.1616A>G (p.Glu539Gly) c.1328A>G (p.Glu443Gly) c.1763A>G (p.Glu588Gly) c.1748A>G (p.Glu583Gly) | |
8 | g.71211175T>G | CA371465850 | EYA1 | c.1679A>C (p.Glu560Ala) c.1577A>C (p.Glu526Ala) c.1574A>C (p.Glu525Ala) c.*958A>C (n.*958A>C) n.2142A>C c.*1356A>C (n.*1356A>C) c.1766A>C (p.Glu589Ala) c.1661A>C (p.Glu554Ala) n.749A>C c.1658A>C (p.Glu553Ala) c.1580A>C (p.Glu527Ala) c.1676A>C (p.Glu559Ala) n.2174A>C c.1313A>C (p.Glu438Ala) c.1751A>C (p.Glu584Ala) c.1664A>C (p.Glu555Ala) c.1616A>C (p.Glu539Ala) c.1328A>C (p.Glu443Ala) c.1763A>C (p.Glu588Ala) c.1748A>C (p.Glu583Ala) | |
8 | g.71211176C>A | CA371465851 | EYA1 | c.1678G>T (p.Glu560Ter) c.1576G>T (p.Glu526Ter) c.1573G>T (p.Glu525Ter) c.*957G>T (n.*957G>T) n.2141G>T c.*1355G>T (n.*1355G>T) c.1765G>T (p.Glu589Ter) c.1660G>T (p.Glu554Ter) n.748G>T c.1657G>T (p.Glu553Ter) c.1579G>T (p.Glu527Ter) c.1675G>T (p.Glu559Ter) n.2173G>T c.1312G>T (p.Glu438Ter) c.1750G>T (p.Glu584Ter) c.1663G>T (p.Glu555Ter) c.1615G>T (p.Glu539Ter) c.1327G>T (p.Glu443Ter) c.1762G>T (p.Glu588Ter) c.1747G>T (p.Glu583Ter) | |
8 | g.71211176C= | CA1792681594 | EYA1 | c.1678G= (p.Glu560=) c.1576G= (p.Glu526=) c.1573G= (p.Glu525=) c.*957G= (n.*957G=) n.2141G= c.*1355G= (n.*1355G=) c.1765G= (p.Glu589=) c.1660G= (p.Glu554=) n.748G= c.1657G= (p.Glu553=) c.1579G= (p.Glu527=) c.1675G= (p.Glu559=) n.2173G= c.1312G= (p.Glu438=) c.1750G= (p.Glu584=) c.1663G= (p.Glu555=) c.1615G= (p.Glu539=) c.1327G= (p.Glu443=) c.1762G= (p.Glu588=) c.1747G= (p.Glu583=) | |
8 | g.71211176C>G | CA371465853 | EYA1 | c.1678G>C (p.Glu560Gln) c.1576G>C (p.Glu526Gln) c.1573G>C (p.Glu525Gln) c.*957G>C (n.*957G>C) n.2141G>C c.*1355G>C (n.*1355G>C) c.1765G>C (p.Glu589Gln) c.1660G>C (p.Glu554Gln) n.748G>C c.1657G>C (p.Glu553Gln) c.1579G>C (p.Glu527Gln) c.1675G>C (p.Glu559Gln) n.2173G>C c.1312G>C (p.Glu438Gln) c.1750G>C (p.Glu584Gln) c.1663G>C (p.Glu555Gln) c.1615G>C (p.Glu539Gln) c.1327G>C (p.Glu443Gln) c.1762G>C (p.Glu588Gln) c.1747G>C (p.Glu583Gln) | |
8 | g.71211176C>T | CA371465852 | EYA1 | c.1678G>A (p.Glu560Lys) c.1576G>A (p.Glu526Lys) c.1573G>A (p.Glu525Lys) c.*957G>A (n.*957G>A) n.2141G>A c.*1355G>A (n.*1355G>A) c.1765G>A (p.Glu589Lys) c.1660G>A (p.Glu554Lys) n.748G>A c.1657G>A (p.Glu553Lys) c.1579G>A (p.Glu527Lys) c.1675G>A (p.Glu559Lys) n.2173G>A c.1312G>A (p.Glu438Lys) c.1750G>A (p.Glu584Lys) c.1663G>A (p.Glu555Lys) c.1615G>A (p.Glu539Lys) c.1327G>A (p.Glu443Lys) c.1762G>A (p.Glu588Lys) c.1747G>A (p.Glu583Lys) | dbSNP COSMIC COSMIC |
8 | g.71211177T>A | CA371465854 | EYA1 | c.1677A>T (p.Glu559Asp) c.1575A>T (p.Glu525Asp) c.1572A>T (p.Glu524Asp) c.*956A>T (n.*956A>T) n.2140A>T c.*1354A>T (n.*1354A>T) c.1764A>T (p.Glu588Asp) c.1659A>T (p.Glu553Asp) n.747A>T c.1656A>T (p.Glu552Asp) c.1578A>T (p.Glu526Asp) c.1674A>T (p.Glu558Asp) n.2172A>T c.1311A>T (p.Glu437Asp) c.1749A>T (p.Glu583Asp) c.1662A>T (p.Glu554Asp) c.1614A>T (p.Glu538Asp) c.1326A>T (p.Glu442Asp) c.1761A>T (p.Glu587Asp) c.1746A>T (p.Glu582Asp) | |
8 | g.71211177T>C | CA461323677 | EYA1 | c.1677A>G (p.Glu559=) c.1575A>G (p.Glu525=) c.1572A>G (p.Glu524=) c.*956A>G (n.*956A>G) n.2140A>G c.*1354A>G (n.*1354A>G) c.1764A>G (p.Glu588=) c.1659A>G (p.Glu553=) n.747A>G c.1656A>G (p.Glu552=) c.1578A>G (p.Glu526=) c.1674A>G (p.Glu558=) n.2172A>G c.1311A>G (p.Glu437=) c.1749A>G (p.Glu583=) c.1662A>G (p.Glu554=) c.1614A>G (p.Glu538=) c.1326A>G (p.Glu442=) c.1761A>G (p.Glu587=) c.1746A>G (p.Glu582=) | |
8 | g.71211177T>G | CA371465855 | EYA1 | c.1677A>C (p.Glu559Asp) c.1575A>C (p.Glu525Asp) c.1572A>C (p.Glu524Asp) c.*956A>C (n.*956A>C) n.2140A>C c.*1354A>C (n.*1354A>C) c.1764A>C (p.Glu588Asp) c.1659A>C (p.Glu553Asp) n.747A>C c.1656A>C (p.Glu552Asp) c.1578A>C (p.Glu526Asp) c.1674A>C (p.Glu558Asp) n.2172A>C c.1311A>C (p.Glu437Asp) c.1749A>C (p.Glu583Asp) c.1662A>C (p.Glu554Asp) c.1614A>C (p.Glu538Asp) c.1326A>C (p.Glu442Asp) c.1761A>C (p.Glu587Asp) c.1746A>C (p.Glu582Asp) | |
8 | g.71211178T>A | CA371465856 | EYA1 | c.1676A>T (p.Glu559Val) c.1574A>T (p.Glu525Val) c.1571A>T (p.Glu524Val) c.*955A>T (n.*955A>T) n.2139A>T c.*1353A>T (n.*1353A>T) c.1763A>T (p.Glu588Val) c.1658A>T (p.Glu553Val) n.746A>T c.1655A>T (p.Glu552Val) c.1577A>T (p.Glu526Val) c.1673A>T (p.Glu558Val) n.2171A>T c.1310A>T (p.Glu437Val) c.1748A>T (p.Glu583Val) c.1661A>T (p.Glu554Val) c.1613A>T (p.Glu538Val) c.1325A>T (p.Glu442Val) c.1760A>T (p.Glu587Val) c.1745A>T (p.Glu582Val) | |
8 | g.71211178T>C | CA371465857 | EYA1 | c.1676A>G (p.Glu559Gly) c.1574A>G (p.Glu525Gly) c.1571A>G (p.Glu524Gly) c.*955A>G (n.*955A>G) n.2139A>G c.*1353A>G (n.*1353A>G) c.1763A>G (p.Glu588Gly) c.1658A>G (p.Glu553Gly) n.746A>G c.1655A>G (p.Glu552Gly) c.1577A>G (p.Glu526Gly) c.1673A>G (p.Glu558Gly) n.2171A>G c.1310A>G (p.Glu437Gly) c.1748A>G (p.Glu583Gly) c.1661A>G (p.Glu554Gly) c.1613A>G (p.Glu538Gly) c.1325A>G (p.Glu442Gly) c.1760A>G (p.Glu587Gly) c.1745A>G (p.Glu582Gly) | |
8 | g.71211178T>G | CA371465858 | EYA1 | c.1676A>C (p.Glu559Ala) c.1574A>C (p.Glu525Ala) c.1571A>C (p.Glu524Ala) c.*955A>C (n.*955A>C) n.2139A>C c.*1353A>C (n.*1353A>C) c.1763A>C (p.Glu588Ala) c.1658A>C (p.Glu553Ala) n.746A>C c.1655A>C (p.Glu552Ala) c.1577A>C (p.Glu526Ala) c.1673A>C (p.Glu558Ala) n.2171A>C c.1310A>C (p.Glu437Ala) c.1748A>C (p.Glu583Ala) c.1661A>C (p.Glu554Ala) c.1613A>C (p.Glu538Ala) c.1325A>C (p.Glu442Ala) c.1760A>C (p.Glu587Ala) c.1745A>C (p.Glu582Ala) | |
8 | g.71211179C>A | CA371465859 | EYA1 | c.1675G>T (p.Glu559Ter) c.1573G>T (p.Glu525Ter) c.1570G>T (p.Glu524Ter) c.*954G>T (n.*954G>T) n.2138G>T c.*1352G>T (n.*1352G>T) c.1762G>T (p.Glu588Ter) c.1657G>T (p.Glu553Ter) n.745G>T c.1654G>T (p.Glu552Ter) c.1576G>T (p.Glu526Ter) c.1672G>T (p.Glu558Ter) n.2170G>T c.1309G>T (p.Glu437Ter) c.1747G>T (p.Glu583Ter) c.1660G>T (p.Glu554Ter) c.1612G>T (p.Glu538Ter) c.1324G>T (p.Glu442Ter) c.1759G>T (p.Glu587Ter) c.1744G>T (p.Glu582Ter) | |
8 | g.71211179C>G | CA371465860 | EYA1 | c.1675G>C (p.Glu559Gln) c.1573G>C (p.Glu525Gln) c.1570G>C (p.Glu524Gln) c.*954G>C (n.*954G>C) n.2138G>C c.*1352G>C (n.*1352G>C) c.1762G>C (p.Glu588Gln) c.1657G>C (p.Glu553Gln) n.745G>C c.1654G>C (p.Glu552Gln) c.1576G>C (p.Glu526Gln) c.1672G>C (p.Glu558Gln) n.2170G>C c.1309G>C (p.Glu437Gln) c.1747G>C (p.Glu583Gln) c.1660G>C (p.Glu554Gln) c.1612G>C (p.Glu538Gln) c.1324G>C (p.Glu442Gln) c.1759G>C (p.Glu587Gln) c.1744G>C (p.Glu582Gln) | COSMIC COSMIC |
8 | g.71211179C>T | CA371465861 | EYA1 | c.1675G>A (p.Glu559Lys) c.1573G>A (p.Glu525Lys) c.1570G>A (p.Glu524Lys) c.*954G>A (n.*954G>A) n.2138G>A c.*1352G>A (n.*1352G>A) c.1762G>A (p.Glu588Lys) c.1657G>A (p.Glu553Lys) n.745G>A c.1654G>A (p.Glu552Lys) c.1576G>A (p.Glu526Lys) c.1672G>A (p.Glu558Lys) n.2170G>A c.1309G>A (p.Glu437Lys) c.1747G>A (p.Glu583Lys) c.1660G>A (p.Glu554Lys) c.1612G>A (p.Glu538Lys) c.1324G>A (p.Glu442Lys) c.1759G>A (p.Glu587Lys) c.1744G>A (p.Glu582Lys) | |
8 | g.71211180T>A | CA461323678 | EYA1 | c.1674A>T (p.Val558=) c.1572A>T (p.Val524=) c.1569A>T (p.Val523=) c.*953A>T (n.*953A>T) n.2137A>T c.*1351A>T (n.*1351A>T) c.1761A>T (p.Val587=) c.1656A>T (p.Val552=) n.744A>T c.1653A>T (p.Val551=) c.1575A>T (p.Val525=) c.1671A>T (p.Val557=) n.2169A>T c.1308A>T (p.Val436=) c.1746A>T (p.Val582=) c.1659A>T (p.Val553=) c.1611A>T (p.Val537=) c.1323A>T (p.Val441=) c.1758A>T (p.Val586=) c.1743A>T (p.Val581=) | gnomAD v4 |
8 | g.71211180T>C | CA461323679 | EYA1 | c.1674A>G (p.Val558=) c.1572A>G (p.Val524=) c.1569A>G (p.Val523=) c.*953A>G (n.*953A>G) n.2137A>G c.*1351A>G (n.*1351A>G) c.1761A>G (p.Val587=) c.1656A>G (p.Val552=) n.744A>G c.1653A>G (p.Val551=) c.1575A>G (p.Val525=) c.1671A>G (p.Val557=) n.2169A>G c.1308A>G (p.Val436=) c.1746A>G (p.Val582=) c.1659A>G (p.Val553=) c.1611A>G (p.Val537=) c.1323A>G (p.Val441=) c.1758A>G (p.Val586=) c.1743A>G (p.Val581=) | |
8 | g.71211180T>G | CA461323680 | EYA1 | c.1674A>C (p.Val558=) c.1572A>C (p.Val524=) c.1569A>C (p.Val523=) c.*953A>C (n.*953A>C) n.2137A>C c.*1351A>C (n.*1351A>C) c.1761A>C (p.Val587=) c.1656A>C (p.Val552=) n.744A>C c.1653A>C (p.Val551=) c.1575A>C (p.Val525=) c.1671A>C (p.Val557=) n.2169A>C c.1308A>C (p.Val436=) c.1746A>C (p.Val582=) c.1659A>C (p.Val553=) c.1611A>C (p.Val537=) c.1323A>C (p.Val441=) c.1758A>C (p.Val586=) c.1743A>C (p.Val581=) | |
8 | g.71211181A= | CA1792681597 | EYA1 | c.1673T= (p.Val558=) c.1571T= (p.Val524=) c.1568T= (p.Val523=) c.*952T= (n.*952T=) n.2136T= c.*1350T= (n.*1350T=) c.1760T= (p.Val587=) c.1655T= (p.Val552=) n.743T= c.1652T= (p.Val551=) c.1574T= (p.Val525=) c.1670T= (p.Val557=) n.2168T= c.1307T= (p.Val436=) c.1745T= (p.Val582=) c.1658T= (p.Val553=) c.1610T= (p.Val537=) c.1322T= (p.Val441=) c.1757T= (p.Val586=) c.1742T= (p.Val581=) | |
8 | g.71211181A>C | CA371465862 | EYA1 | c.1673T>G (p.Val558Gly) c.1571T>G (p.Val524Gly) c.1568T>G (p.Val523Gly) c.*952T>G (n.*952T>G) n.2136T>G c.*1350T>G (n.*1350T>G) c.1760T>G (p.Val587Gly) c.1655T>G (p.Val552Gly) n.743T>G c.1652T>G (p.Val551Gly) c.1574T>G (p.Val525Gly) c.1670T>G (p.Val557Gly) n.2168T>G c.1307T>G (p.Val436Gly) c.1745T>G (p.Val582Gly) c.1658T>G (p.Val553Gly) c.1610T>G (p.Val537Gly) c.1322T>G (p.Val441Gly) c.1757T>G (p.Val586Gly) c.1742T>G (p.Val581Gly) | |
8 | g.71211181A>G | CA4779392 | EYA1 | c.1673T>C (p.Val558Ala) c.1571T>C (p.Val524Ala) c.1568T>C (p.Val523Ala) c.*952T>C (n.*952T>C) n.2136T>C c.*1350T>C (n.*1350T>C) c.1760T>C (p.Val587Ala) c.1655T>C (p.Val552Ala) n.743T>C c.1652T>C (p.Val551Ala) c.1574T>C (p.Val525Ala) c.1670T>C (p.Val557Ala) n.2168T>C c.1307T>C (p.Val436Ala) c.1745T>C (p.Val582Ala) c.1658T>C (p.Val553Ala) c.1610T>C (p.Val537Ala) c.1322T>C (p.Val441Ala) c.1757T>C (p.Val586Ala) c.1742T>C (p.Val581Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71211181A>T | CA371465863 | EYA1 | c.1673T>A (p.Val558Glu) c.1571T>A (p.Val524Glu) c.1568T>A (p.Val523Glu) c.*952T>A (n.*952T>A) n.2136T>A c.*1350T>A (n.*1350T>A) c.1760T>A (p.Val587Glu) c.1655T>A (p.Val552Glu) n.743T>A c.1652T>A (p.Val551Glu) c.1574T>A (p.Val525Glu) c.1670T>A (p.Val557Glu) n.2168T>A c.1307T>A (p.Val436Glu) c.1745T>A (p.Val582Glu) c.1658T>A (p.Val553Glu) c.1610T>A (p.Val537Glu) c.1322T>A (p.Val441Glu) c.1757T>A (p.Val586Glu) c.1742T>A (p.Val581Glu) | |
8 | g.71211182C>A | CA371465865 | EYA1 | c.1672G>T (p.Val558Leu) c.1570G>T (p.Val524Leu) c.1567G>T (p.Val523Leu) c.*951G>T (n.*951G>T) n.2135G>T c.*1349G>T (n.*1349G>T) c.1759G>T (p.Val587Leu) c.1654G>T (p.Val552Leu) n.742G>T c.1651G>T (p.Val551Leu) c.1573G>T (p.Val525Leu) c.1669G>T (p.Val557Leu) n.2167G>T c.1306G>T (p.Val436Leu) c.1744G>T (p.Val582Leu) c.1657G>T (p.Val553Leu) c.1609G>T (p.Val537Leu) c.1321G>T (p.Val441Leu) c.1756G>T (p.Val586Leu) c.1741G>T (p.Val581Leu) | |
8 | g.71211182C>G | CA371465866 | EYA1 | c.1672G>C (p.Val558Leu) c.1570G>C (p.Val524Leu) c.1567G>C (p.Val523Leu) c.*951G>C (n.*951G>C) n.2135G>C c.*1349G>C (n.*1349G>C) c.1759G>C (p.Val587Leu) c.1654G>C (p.Val552Leu) n.742G>C c.1651G>C (p.Val551Leu) c.1573G>C (p.Val525Leu) c.1669G>C (p.Val557Leu) n.2167G>C c.1306G>C (p.Val436Leu) c.1744G>C (p.Val582Leu) c.1657G>C (p.Val553Leu) c.1609G>C (p.Val537Leu) c.1321G>C (p.Val441Leu) c.1756G>C (p.Val586Leu) c.1741G>C (p.Val581Leu) | |
8 | g.71211182C>T | CA371465864 | EYA1 | c.1672G>A (p.Val558Ile) c.1570G>A (p.Val524Ile) c.1567G>A (p.Val523Ile) c.*951G>A (n.*951G>A) n.2135G>A c.*1349G>A (n.*1349G>A) c.1759G>A (p.Val587Ile) c.1654G>A (p.Val552Ile) n.742G>A c.1651G>A (p.Val551Ile) c.1573G>A (p.Val525Ile) c.1669G>A (p.Val557Ile) n.2167G>A c.1306G>A (p.Val436Ile) c.1744G>A (p.Val582Ile) c.1657G>A (p.Val553Ile) c.1609G>A (p.Val537Ile) c.1321G>A (p.Val441Ile) c.1756G>A (p.Val586Ile) c.1741G>A (p.Val581Ile) | COSMIC COSMIC |
8 | g.71211183A>C | CA461323681 | EYA1 | c.1671T>G (p.Gly557=) c.1569T>G (p.Gly523=) c.1566T>G (p.Gly522=) c.*950T>G (n.*950T>G) n.2134T>G c.*1348T>G (n.*1348T>G) c.1758T>G (p.Gly586=) c.1653T>G (p.Gly551=) n.741T>G c.1650T>G (p.Gly550=) c.1572T>G (p.Gly524=) c.1668T>G (p.Gly556=) n.2166T>G c.1305T>G (p.Gly435=) c.1743T>G (p.Gly581=) c.1656T>G (p.Gly552=) c.1608T>G (p.Gly536=) c.1320T>G (p.Gly440=) c.1755T>G (p.Gly585=) c.1740T>G (p.Gly580=) | |
8 | g.71211183A>G | CA461323682 | EYA1 | c.1671T>C (p.Gly557=) c.1569T>C (p.Gly523=) c.1566T>C (p.Gly522=) c.*950T>C (n.*950T>C) n.2134T>C c.*1348T>C (n.*1348T>C) c.1758T>C (p.Gly586=) c.1653T>C (p.Gly551=) n.741T>C c.1650T>C (p.Gly550=) c.1572T>C (p.Gly524=) c.1668T>C (p.Gly556=) n.2166T>C c.1305T>C (p.Gly435=) c.1743T>C (p.Gly581=) c.1656T>C (p.Gly552=) c.1608T>C (p.Gly536=) c.1320T>C (p.Gly440=) c.1755T>C (p.Gly585=) c.1740T>C (p.Gly580=) | |
8 | g.71211183A>T | CA461323683 | EYA1 | c.1671T>A (p.Gly557=) c.1569T>A (p.Gly523=) c.1566T>A (p.Gly522=) c.*950T>A (n.*950T>A) n.2134T>A c.*1348T>A (n.*1348T>A) c.1758T>A (p.Gly586=) c.1653T>A (p.Gly551=) n.741T>A c.1650T>A (p.Gly550=) c.1572T>A (p.Gly524=) c.1668T>A (p.Gly556=) n.2166T>A c.1305T>A (p.Gly435=) c.1743T>A (p.Gly581=) c.1656T>A (p.Gly552=) c.1608T>A (p.Gly536=) c.1320T>A (p.Gly440=) c.1755T>A (p.Gly585=) c.1740T>A (p.Gly580=) | |
8 | g.71211184C>A | CA371465868 | EYA1 | c.1670G>T (p.Gly557Val) c.1568G>T (p.Gly523Val) c.1565G>T (p.Gly522Val) c.*949G>T (n.*949G>T) n.2133G>T c.*1347G>T (n.*1347G>T) c.1757G>T (p.Gly586Val) c.1652G>T (p.Gly551Val) n.740G>T c.1649G>T (p.Gly550Val) c.1571G>T (p.Gly524Val) c.1667G>T (p.Gly556Val) n.2165G>T c.1304G>T (p.Gly435Val) c.1742G>T (p.Gly581Val) c.1655G>T (p.Gly552Val) c.1607G>T (p.Gly536Val) c.1319G>T (p.Gly440Val) c.1754G>T (p.Gly585Val) c.1739G>T (p.Gly580Val) | ClinVar |
8 | g.71211184C= | CA1792681599 | EYA1 | c.1670G= (p.Gly557=) c.1568G= (p.Gly523=) c.1565G= (p.Gly522=) c.*949G= (n.*949G=) n.2133G= c.*1347G= (n.*1347G=) c.1757G= (p.Gly586=) c.1652G= (p.Gly551=) n.740G= c.1649G= (p.Gly550=) c.1571G= (p.Gly524=) c.1667G= (p.Gly556=) n.2165G= c.1304G= (p.Gly435=) c.1742G= (p.Gly581=) c.1655G= (p.Gly552=) c.1607G= (p.Gly536=) c.1319G= (p.Gly440=) c.1754G= (p.Gly585=) c.1739G= (p.Gly580=) | |
8 | g.71211184C>G | CA4779393 | EYA1 | c.1670G>C (p.Gly557Ala) c.1568G>C (p.Gly523Ala) c.1565G>C (p.Gly522Ala) c.*949G>C (n.*949G>C) n.2133G>C c.*1347G>C (n.*1347G>C) c.1757G>C (p.Gly586Ala) c.1652G>C (p.Gly551Ala) n.740G>C c.1649G>C (p.Gly550Ala) c.1571G>C (p.Gly524Ala) c.1667G>C (p.Gly556Ala) n.2165G>C c.1304G>C (p.Gly435Ala) c.1742G>C (p.Gly581Ala) c.1655G>C (p.Gly552Ala) c.1607G>C (p.Gly536Ala) c.1319G>C (p.Gly440Ala) c.1754G>C (p.Gly585Ala) c.1739G>C (p.Gly580Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71211184C>T | CA371465867 | EYA1 | c.1670G>A (p.Gly557Asp) c.1568G>A (p.Gly523Asp) c.1565G>A (p.Gly522Asp) c.*949G>A (n.*949G>A) n.2133G>A c.*1347G>A (n.*1347G>A) c.1757G>A (p.Gly586Asp) c.1652G>A (p.Gly551Asp) n.740G>A c.1649G>A (p.Gly550Asp) c.1571G>A (p.Gly524Asp) c.1667G>A (p.Gly556Asp) n.2165G>A c.1304G>A (p.Gly435Asp) c.1742G>A (p.Gly581Asp) c.1655G>A (p.Gly552Asp) c.1607G>A (p.Gly536Asp) c.1319G>A (p.Gly440Asp) c.1754G>A (p.Gly585Asp) c.1739G>A (p.Gly580Asp) | |
8 | g.71211185C>A | CA371465869 | EYA1 | c.1669G>T (p.Gly557Cys) c.1567G>T (p.Gly523Cys) c.1564G>T (p.Gly522Cys) c.*948G>T (n.*948G>T) n.2132G>T c.*1346G>T (n.*1346G>T) c.1756G>T (p.Gly586Cys) c.1651G>T (p.Gly551Cys) n.739G>T c.1648G>T (p.Gly550Cys) c.1570G>T (p.Gly524Cys) c.1666G>T (p.Gly556Cys) n.2164G>T c.1303G>T (p.Gly435Cys) c.1741G>T (p.Gly581Cys) c.1654G>T (p.Gly552Cys) c.1606G>T (p.Gly536Cys) c.1318G>T (p.Gly440Cys) c.1753G>T (p.Gly585Cys) c.1738G>T (p.Gly580Cys) | |
8 | g.71211185C>G | CA371465870 | EYA1 | c.1669G>C (p.Gly557Arg) c.1567G>C (p.Gly523Arg) c.1564G>C (p.Gly522Arg) c.*948G>C (n.*948G>C) n.2132G>C c.*1346G>C (n.*1346G>C) c.1756G>C (p.Gly586Arg) c.1651G>C (p.Gly551Arg) n.739G>C c.1648G>C (p.Gly550Arg) c.1570G>C (p.Gly524Arg) c.1666G>C (p.Gly556Arg) n.2164G>C c.1303G>C (p.Gly435Arg) c.1741G>C (p.Gly581Arg) c.1654G>C (p.Gly552Arg) c.1606G>C (p.Gly536Arg) c.1318G>C (p.Gly440Arg) c.1753G>C (p.Gly585Arg) c.1738G>C (p.Gly580Arg) | |
8 | g.71211185C>T | CA371465871 | EYA1 | c.1669G>A (p.Gly557Ser) c.1567G>A (p.Gly523Ser) c.1564G>A (p.Gly522Ser) c.*948G>A (n.*948G>A) n.2132G>A c.*1346G>A (n.*1346G>A) c.1756G>A (p.Gly586Ser) c.1651G>A (p.Gly551Ser) n.739G>A c.1648G>A (p.Gly550Ser) c.1570G>A (p.Gly524Ser) c.1666G>A (p.Gly556Ser) n.2164G>A c.1303G>A (p.Gly435Ser) c.1741G>A (p.Gly581Ser) c.1654G>A (p.Gly552Ser) c.1606G>A (p.Gly536Ser) c.1318G>A (p.Gly440Ser) c.1753G>A (p.Gly585Ser) c.1738G>A (p.Gly580Ser) | gnomAD v4 |
8 | g.71211186A>C | CA371465872 | EYA1 | c.1668T>G (p.Asp556Glu) c.1566T>G (p.Asp522Glu) c.1563T>G (p.Asp521Glu) c.*947T>G (n.*947T>G) n.2131T>G c.*1345T>G (n.*1345T>G) c.1755T>G (p.Asp585Glu) c.1650T>G (p.Asp550Glu) n.738T>G c.1647T>G (p.Asp549Glu) c.1569T>G (p.Asp523Glu) c.1665T>G (p.Asp555Glu) n.2163T>G c.1302T>G (p.Asp434Glu) c.1740T>G (p.Asp580Glu) c.1653T>G (p.Asp551Glu) c.1605T>G (p.Asp535Glu) c.1317T>G (p.Asp439Glu) c.1752T>G (p.Asp584Glu) c.1737T>G (p.Asp579Glu) | |
8 | g.71211186A>G | CA461323684 | EYA1 | c.1668T>C (p.Asp556=) c.1566T>C (p.Asp522=) c.1563T>C (p.Asp521=) c.*947T>C (n.*947T>C) n.2131T>C c.*1345T>C (n.*1345T>C) c.1755T>C (p.Asp585=) c.1650T>C (p.Asp550=) n.738T>C c.1647T>C (p.Asp549=) c.1569T>C (p.Asp523=) c.1665T>C (p.Asp555=) n.2163T>C c.1302T>C (p.Asp434=) c.1740T>C (p.Asp580=) c.1653T>C (p.Asp551=) c.1605T>C (p.Asp535=) c.1317T>C (p.Asp439=) c.1752T>C (p.Asp584=) c.1737T>C (p.Asp579=) | gnomAD v4 |
8 | g.71211186A>T | CA371465873 | EYA1 | c.1668T>A (p.Asp556Glu) c.1566T>A (p.Asp522Glu) c.1563T>A (p.Asp521Glu) c.*947T>A (n.*947T>A) n.2131T>A c.*1345T>A (n.*1345T>A) c.1755T>A (p.Asp585Glu) c.1650T>A (p.Asp550Glu) n.738T>A c.1647T>A (p.Asp549Glu) c.1569T>A (p.Asp523Glu) c.1665T>A (p.Asp555Glu) n.2163T>A c.1302T>A (p.Asp434Glu) c.1740T>A (p.Asp580Glu) c.1653T>A (p.Asp551Glu) c.1605T>A (p.Asp535Glu) c.1317T>A (p.Asp439Glu) c.1752T>A (p.Asp584Glu) c.1737T>A (p.Asp579Glu) | |
8 | g.71211187T>A | CA371465874 | EYA1 | c.1667A>T (p.Asp556Val) c.1565A>T (p.Asp522Val) c.1562A>T (p.Asp521Val) c.*946A>T (n.*946A>T) n.2130A>T c.*1344A>T (n.*1344A>T) c.1754A>T (p.Asp585Val) c.1649A>T (p.Asp550Val) n.737A>T c.1646A>T (p.Asp549Val) c.1568A>T (p.Asp523Val) c.1664A>T (p.Asp555Val) n.2162A>T c.1301A>T (p.Asp434Val) c.1739A>T (p.Asp580Val) c.1652A>T (p.Asp551Val) c.1604A>T (p.Asp535Val) c.1316A>T (p.Asp439Val) c.1751A>T (p.Asp584Val) c.1736A>T (p.Asp579Val) | |
8 | g.71211187T>C | CA371465875 | EYA1 | c.1667A>G (p.Asp556Gly) c.1565A>G (p.Asp522Gly) c.1562A>G (p.Asp521Gly) c.*946A>G (n.*946A>G) n.2130A>G c.*1344A>G (n.*1344A>G) c.1754A>G (p.Asp585Gly) c.1649A>G (p.Asp550Gly) n.737A>G c.1646A>G (p.Asp549Gly) c.1568A>G (p.Asp523Gly) c.1664A>G (p.Asp555Gly) n.2162A>G c.1301A>G (p.Asp434Gly) c.1739A>G (p.Asp580Gly) c.1652A>G (p.Asp551Gly) c.1604A>G (p.Asp535Gly) c.1316A>G (p.Asp439Gly) c.1751A>G (p.Asp584Gly) c.1736A>G (p.Asp579Gly) | gnomAD v4 |
8 | g.71211187T>G | CA371465876 | EYA1 | c.1667A>C (p.Asp556Ala) c.1565A>C (p.Asp522Ala) c.1562A>C (p.Asp521Ala) c.*946A>C (n.*946A>C) n.2130A>C c.*1344A>C (n.*1344A>C) c.1754A>C (p.Asp585Ala) c.1649A>C (p.Asp550Ala) n.737A>C c.1646A>C (p.Asp549Ala) c.1568A>C (p.Asp523Ala) c.1664A>C (p.Asp555Ala) n.2162A>C c.1301A>C (p.Asp434Ala) c.1739A>C (p.Asp580Ala) c.1652A>C (p.Asp551Ala) c.1604A>C (p.Asp535Ala) c.1316A>C (p.Asp439Ala) c.1751A>C (p.Asp584Ala) c.1736A>C (p.Asp579Ala) | gnomAD v4 |
8 | g.71211188C>A | CA371465877 | EYA1 | c.1666G>T (p.Asp556Tyr) c.1564G>T (p.Asp522Tyr) c.1561G>T (p.Asp521Tyr) c.*945G>T (n.*945G>T) n.2129G>T c.*1343G>T (n.*1343G>T) c.1753G>T (p.Asp585Tyr) c.1648G>T (p.Asp550Tyr) n.736G>T c.1645G>T (p.Asp549Tyr) c.1567G>T (p.Asp523Tyr) c.1663G>T (p.Asp555Tyr) n.2161G>T c.1300G>T (p.Asp434Tyr) c.1738G>T (p.Asp580Tyr) c.1651G>T (p.Asp551Tyr) c.1603G>T (p.Asp535Tyr) c.1315G>T (p.Asp439Tyr) c.1750G>T (p.Asp584Tyr) c.1735G>T (p.Asp579Tyr) | |
8 | g.71211188C>G | CA371465878 | EYA1 | c.1666G>C (p.Asp556His) c.1564G>C (p.Asp522His) c.1561G>C (p.Asp521His) c.*945G>C (n.*945G>C) n.2129G>C c.*1343G>C (n.*1343G>C) c.1753G>C (p.Asp585His) c.1648G>C (p.Asp550His) n.736G>C c.1645G>C (p.Asp549His) c.1567G>C (p.Asp523His) c.1663G>C (p.Asp555His) n.2161G>C c.1300G>C (p.Asp434His) c.1738G>C (p.Asp580His) c.1651G>C (p.Asp551His) c.1603G>C (p.Asp535His) c.1315G>C (p.Asp439His) c.1750G>C (p.Asp584His) c.1735G>C (p.Asp579His) | |
8 | g.71211188C>T | CA371465879 | EYA1 | c.1666G>A (p.Asp556Asn) c.1564G>A (p.Asp522Asn) c.1561G>A (p.Asp521Asn) c.*945G>A (n.*945G>A) n.2129G>A c.*1343G>A (n.*1343G>A) c.1753G>A (p.Asp585Asn) c.1648G>A (p.Asp550Asn) n.736G>A c.1645G>A (p.Asp549Asn) c.1567G>A (p.Asp523Asn) c.1663G>A (p.Asp555Asn) n.2161G>A c.1300G>A (p.Asp434Asn) c.1738G>A (p.Asp580Asn) c.1651G>A (p.Asp551Asn) c.1603G>A (p.Asp535Asn) c.1315G>A (p.Asp439Asn) c.1750G>A (p.Asp584Asn) c.1735G>A (p.Asp579Asn) | |
8 | g.71211189T>A | CA461323687 | EYA1 | c.1665A>T (p.Gly555=) c.1563A>T (p.Gly521=) c.1560A>T (p.Gly520=) c.*944A>T (n.*944A>T) n.2128A>T c.*1342A>T (n.*1342A>T) c.1752A>T (p.Gly584=) c.1647A>T (p.Gly549=) n.735A>T c.1644A>T (p.Gly548=) c.1566A>T (p.Gly522=) c.1662A>T (p.Gly554=) n.2160A>T c.1299A>T (p.Gly433=) c.1737A>T (p.Gly579=) c.1650A>T (p.Gly550=) c.1602A>T (p.Gly534=) c.1314A>T (p.Gly438=) c.1749A>T (p.Gly583=) c.1734A>T (p.Gly578=) | |
8 | g.71211189T>C | CA461323686 | EYA1 | c.1665A>G (p.Gly555=) c.1563A>G (p.Gly521=) c.1560A>G (p.Gly520=) c.*944A>G (n.*944A>G) n.2128A>G c.*1342A>G (n.*1342A>G) c.1752A>G (p.Gly584=) c.1647A>G (p.Gly549=) n.735A>G c.1644A>G (p.Gly548=) c.1566A>G (p.Gly522=) c.1662A>G (p.Gly554=) n.2160A>G c.1299A>G (p.Gly433=) c.1737A>G (p.Gly579=) c.1650A>G (p.Gly550=) c.1602A>G (p.Gly534=) c.1314A>G (p.Gly438=) c.1749A>G (p.Gly583=) c.1734A>G (p.Gly578=) | |
8 | g.71211189T>G | CA461323685 | EYA1 | c.1665A>C (p.Gly555=) c.1563A>C (p.Gly521=) c.1560A>C (p.Gly520=) c.*944A>C (n.*944A>C) n.2128A>C c.*1342A>C (n.*1342A>C) c.1752A>C (p.Gly584=) c.1647A>C (p.Gly549=) n.735A>C c.1644A>C (p.Gly548=) c.1566A>C (p.Gly522=) c.1662A>C (p.Gly554=) n.2160A>C c.1299A>C (p.Gly433=) c.1737A>C (p.Gly579=) c.1650A>C (p.Gly550=) c.1602A>C (p.Gly534=) c.1314A>C (p.Gly438=) c.1749A>C (p.Gly583=) c.1734A>C (p.Gly578=) | |
8 | g.71211190C>A | CA371465882 | EYA1 | c.1664G>T (p.Gly555Val) c.1562G>T (p.Gly521Val) c.1559G>T (p.Gly520Val) c.*943G>T (n.*943G>T) n.2127G>T c.*1341G>T (n.*1341G>T) c.1751G>T (p.Gly584Val) c.1646G>T (p.Gly549Val) n.734G>T c.1643G>T (p.Gly548Val) c.1565G>T (p.Gly522Val) c.1661G>T (p.Gly554Val) n.2159G>T c.1298G>T (p.Gly433Val) c.1736G>T (p.Gly579Val) c.1649G>T (p.Gly550Val) c.1601G>T (p.Gly534Val) c.1313G>T (p.Gly438Val) c.1748G>T (p.Gly583Val) c.1733G>T (p.Gly578Val) | |
8 | g.71211190C>G | CA371465881 | EYA1 | c.1664G>C (p.Gly555Ala) c.1562G>C (p.Gly521Ala) c.1559G>C (p.Gly520Ala) c.*943G>C (n.*943G>C) n.2127G>C c.*1341G>C (n.*1341G>C) c.1751G>C (p.Gly584Ala) c.1646G>C (p.Gly549Ala) n.734G>C c.1643G>C (p.Gly548Ala) c.1565G>C (p.Gly522Ala) c.1661G>C (p.Gly554Ala) n.2159G>C c.1298G>C (p.Gly433Ala) c.1736G>C (p.Gly579Ala) c.1649G>C (p.Gly550Ala) c.1601G>C (p.Gly534Ala) c.1313G>C (p.Gly438Ala) c.1748G>C (p.Gly583Ala) c.1733G>C (p.Gly578Ala) | |
8 | g.71211190C>T | CA371465880 | EYA1 | c.1664G>A (p.Gly555Glu) c.1562G>A (p.Gly521Glu) c.1559G>A (p.Gly520Glu) c.*943G>A (n.*943G>A) n.2127G>A c.*1341G>A (n.*1341G>A) c.1751G>A (p.Gly584Glu) c.1646G>A (p.Gly549Glu) n.734G>A c.1643G>A (p.Gly548Glu) c.1565G>A (p.Gly522Glu) c.1661G>A (p.Gly554Glu) n.2159G>A c.1298G>A (p.Gly433Glu) c.1736G>A (p.Gly579Glu) c.1649G>A (p.Gly550Glu) c.1601G>A (p.Gly534Glu) c.1313G>A (p.Gly438Glu) c.1748G>A (p.Gly583Glu) c.1733G>A (p.Gly578Glu) | gnomAD v4 |
8 | g.71211191C>A | CA371465883 | EYA1 | c.1663G>T (p.Gly555Ter) c.1561G>T (p.Gly521Ter) c.1558G>T (p.Gly520Ter) c.*942G>T (n.*942G>T) n.2126G>T c.*1340G>T (n.*1340G>T) c.1750G>T (p.Gly584Ter) c.1645G>T (p.Gly549Ter) n.733G>T c.1642G>T (p.Gly548Ter) c.1564G>T (p.Gly522Ter) c.1660G>T (p.Gly554Ter) n.2158G>T c.1297G>T (p.Gly433Ter) c.1735G>T (p.Gly579Ter) c.1648G>T (p.Gly550Ter) c.1600G>T (p.Gly534Ter) c.1312G>T (p.Gly438Ter) c.1747G>T (p.Gly583Ter) c.1732G>T (p.Gly578Ter) | |
8 | g.71211191C>G | CA371465884 | EYA1 | c.1663G>C (p.Gly555Arg) c.1561G>C (p.Gly521Arg) c.1558G>C (p.Gly520Arg) c.*942G>C (n.*942G>C) n.2126G>C c.*1340G>C (n.*1340G>C) c.1750G>C (p.Gly584Arg) c.1645G>C (p.Gly549Arg) n.733G>C c.1642G>C (p.Gly548Arg) c.1564G>C (p.Gly522Arg) c.1660G>C (p.Gly554Arg) n.2158G>C c.1297G>C (p.Gly433Arg) c.1735G>C (p.Gly579Arg) c.1648G>C (p.Gly550Arg) c.1600G>C (p.Gly534Arg) c.1312G>C (p.Gly438Arg) c.1747G>C (p.Gly583Arg) c.1732G>C (p.Gly578Arg) | |
8 | g.71211191C>T | CA371465885 | EYA1 | c.1663G>A (p.Gly555Arg) c.1561G>A (p.Gly521Arg) c.1558G>A (p.Gly520Arg) c.*942G>A (n.*942G>A) n.2126G>A c.*1340G>A (n.*1340G>A) c.1750G>A (p.Gly584Arg) c.1645G>A (p.Gly549Arg) n.733G>A c.1642G>A (p.Gly548Arg) c.1564G>A (p.Gly522Arg) c.1660G>A (p.Gly554Arg) n.2158G>A c.1297G>A (p.Gly433Arg) c.1735G>A (p.Gly579Arg) c.1648G>A (p.Gly550Arg) c.1600G>A (p.Gly534Arg) c.1312G>A (p.Gly438Arg) c.1747G>A (p.Gly583Arg) c.1732G>A (p.Gly578Arg) | COSMIC COSMIC |
8 | g.71211192T>A | CA461323689 | EYA1 | c.1662A>T (p.Ile554=) c.1560A>T (p.Ile520=) c.1557A>T (p.Ile519=) c.*941A>T (n.*941A>T) n.2125A>T c.*1339A>T (n.*1339A>T) c.1749A>T (p.Ile583=) c.1644A>T (p.Ile548=) n.732A>T c.1641A>T (p.Ile547=) c.1563A>T (p.Ile521=) c.1659A>T (p.Ile553=) n.2157A>T c.1296A>T (p.Ile432=) c.1734A>T (p.Ile578=) c.1647A>T (p.Ile549=) c.1599A>T (p.Ile533=) c.1311A>T (p.Ile437=) c.1746A>T (p.Ile582=) c.1731A>T (p.Ile577=) | |
8 | g.71211192T>C | CA371465886 | EYA1 | c.1662A>G (p.Ile554Met) c.1560A>G (p.Ile520Met) c.1557A>G (p.Ile519Met) c.*941A>G (n.*941A>G) n.2125A>G c.*1339A>G (n.*1339A>G) c.1749A>G (p.Ile583Met) c.1644A>G (p.Ile548Met) n.732A>G c.1641A>G (p.Ile547Met) c.1563A>G (p.Ile521Met) c.1659A>G (p.Ile553Met) n.2157A>G c.1296A>G (p.Ile432Met) c.1734A>G (p.Ile578Met) c.1647A>G (p.Ile549Met) c.1599A>G (p.Ile533Met) c.1311A>G (p.Ile437Met) c.1746A>G (p.Ile582Met) c.1731A>G (p.Ile577Met) | |
8 | g.71211192T>G | CA461323688 | EYA1 | c.1662A>C (p.Ile554=) c.1560A>C (p.Ile520=) c.1557A>C (p.Ile519=) c.*941A>C (n.*941A>C) n.2125A>C c.*1339A>C (n.*1339A>C) c.1749A>C (p.Ile583=) c.1644A>C (p.Ile548=) n.732A>C c.1641A>C (p.Ile547=) c.1563A>C (p.Ile521=) c.1659A>C (p.Ile553=) n.2157A>C c.1296A>C (p.Ile432=) c.1734A>C (p.Ile578=) c.1647A>C (p.Ile549=) c.1599A>C (p.Ile533=) c.1311A>C (p.Ile437=) c.1746A>C (p.Ile582=) c.1731A>C (p.Ile577=) | |
8 | g.71211193A= | CA1792681602 | EYA1 | c.1661T= (p.Ile554=) c.1559T= (p.Ile520=) c.1556T= (p.Ile519=) c.*940T= (n.*940T=) n.2124T= c.*1338T= (n.*1338T=) c.1748T= (p.Ile583=) c.1643T= (p.Ile548=) n.731T= c.1640T= (p.Ile547=) c.1562T= (p.Ile521=) c.1658T= (p.Ile553=) n.2156T= c.1295T= (p.Ile432=) c.1733T= (p.Ile578=) c.1646T= (p.Ile549=) c.1598T= (p.Ile533=) c.1310T= (p.Ile437=) c.1745T= (p.Ile582=) c.1730T= (p.Ile577=) | |
8 | g.71211193A>C | CA371465887 | EYA1 | c.1661T>G (p.Ile554Arg) c.1559T>G (p.Ile520Arg) c.1556T>G (p.Ile519Arg) c.*940T>G (n.*940T>G) n.2124T>G c.*1338T>G (n.*1338T>G) c.1748T>G (p.Ile583Arg) c.1643T>G (p.Ile548Arg) n.731T>G c.1640T>G (p.Ile547Arg) c.1562T>G (p.Ile521Arg) c.1658T>G (p.Ile553Arg) n.2156T>G c.1295T>G (p.Ile432Arg) c.1733T>G (p.Ile578Arg) c.1646T>G (p.Ile549Arg) c.1598T>G (p.Ile533Arg) c.1310T>G (p.Ile437Arg) c.1745T>G (p.Ile582Arg) c.1730T>G (p.Ile577Arg) | |
8 | g.71211193A>G | CA371465888 | EYA1 | c.1661T>C (p.Ile554Thr) c.1559T>C (p.Ile520Thr) c.1556T>C (p.Ile519Thr) c.*940T>C (n.*940T>C) n.2124T>C c.*1338T>C (n.*1338T>C) c.1748T>C (p.Ile583Thr) c.1643T>C (p.Ile548Thr) n.731T>C c.1640T>C (p.Ile547Thr) c.1562T>C (p.Ile521Thr) c.1658T>C (p.Ile553Thr) n.2156T>C c.1295T>C (p.Ile432Thr) c.1733T>C (p.Ile578Thr) c.1646T>C (p.Ile549Thr) c.1598T>C (p.Ile533Thr) c.1310T>C (p.Ile437Thr) c.1745T>C (p.Ile582Thr) c.1730T>C (p.Ile577Thr) | dbSNP |
8 | g.71211193A>T | CA371465889 | EYA1 | c.1661T>A (p.Ile554Lys) c.1559T>A (p.Ile520Lys) c.1556T>A (p.Ile519Lys) c.*940T>A (n.*940T>A) n.2124T>A c.*1338T>A (n.*1338T>A) c.1748T>A (p.Ile583Lys) c.1643T>A (p.Ile548Lys) n.731T>A c.1640T>A (p.Ile547Lys) c.1562T>A (p.Ile521Lys) c.1658T>A (p.Ile553Lys) n.2156T>A c.1295T>A (p.Ile432Lys) c.1733T>A (p.Ile578Lys) c.1646T>A (p.Ile549Lys) c.1598T>A (p.Ile533Lys) c.1310T>A (p.Ile437Lys) c.1745T>A (p.Ile582Lys) c.1730T>A (p.Ile577Lys) | |
8 | g.71211194T>A | CA371465890 | EYA1 | c.1660A>T (p.Ile554Leu) c.1558A>T (p.Ile520Leu) c.1555A>T (p.Ile519Leu) c.*939A>T (n.*939A>T) n.2123A>T c.*1337A>T (n.*1337A>T) c.1747A>T (p.Ile583Leu) c.1642A>T (p.Ile548Leu) n.730A>T c.1639A>T (p.Ile547Leu) c.1561A>T (p.Ile521Leu) c.1657A>T (p.Ile553Leu) n.2155A>T c.1294A>T (p.Ile432Leu) c.1732A>T (p.Ile578Leu) c.1645A>T (p.Ile549Leu) c.1597A>T (p.Ile533Leu) c.1309A>T (p.Ile437Leu) c.1744A>T (p.Ile582Leu) c.1729A>T (p.Ile577Leu) | dbSNP gnomAD v4 |
8 | g.71211194T>C | CA371465891 | EYA1 | c.1660A>G (p.Ile554Val) c.1558A>G (p.Ile520Val) c.1555A>G (p.Ile519Val) c.*939A>G (n.*939A>G) n.2123A>G c.*1337A>G (n.*1337A>G) c.1747A>G (p.Ile583Val) c.1642A>G (p.Ile548Val) n.730A>G c.1639A>G (p.Ile547Val) c.1561A>G (p.Ile521Val) c.1657A>G (p.Ile553Val) n.2155A>G c.1294A>G (p.Ile432Val) c.1732A>G (p.Ile578Val) c.1645A>G (p.Ile549Val) c.1597A>G (p.Ile533Val) c.1309A>G (p.Ile437Val) c.1744A>G (p.Ile582Val) c.1729A>G (p.Ile577Val) | dbSNP gnomAD v4 |
8 | g.71211194T>G | CA371465892 | EYA1 | c.1660A>C (p.Ile554Leu) c.1558A>C (p.Ile520Leu) c.1555A>C (p.Ile519Leu) c.*939A>C (n.*939A>C) n.2123A>C c.*1337A>C (n.*1337A>C) c.1747A>C (p.Ile583Leu) c.1642A>C (p.Ile548Leu) n.730A>C c.1639A>C (p.Ile547Leu) c.1561A>C (p.Ile521Leu) c.1657A>C (p.Ile553Leu) n.2155A>C c.1294A>C (p.Ile432Leu) c.1732A>C (p.Ile578Leu) c.1645A>C (p.Ile549Leu) c.1597A>C (p.Ile533Leu) c.1309A>C (p.Ile437Leu) c.1744A>C (p.Ile582Leu) c.1729A>C (p.Ile577Leu) | |
8 | g.71211194T= | CA1792681605 | EYA1 | c.1660A= (p.Ile554=) c.1558A= (p.Ile520=) c.1555A= (p.Ile519=) c.*939A= (n.*939A=) n.2123A= c.*1337A= (n.*1337A=) c.1747A= (p.Ile583=) c.1642A= (p.Ile548=) n.730A= c.1639A= (p.Ile547=) c.1561A= (p.Ile521=) c.1657A= (p.Ile553=) n.2155A= c.1294A= (p.Ile432=) c.1732A= (p.Ile578=) c.1645A= (p.Ile549=) c.1597A= (p.Ile533=) c.1309A= (p.Ile437=) c.1744A= (p.Ile582=) c.1729A= (p.Ile577=) | |
8 | g.71211194_71211197delinsTAAC | CA1792681606 | EYA1 | c.1657_1660delinsGTTA (p.Val553=) c.1555_1558delinsGTTA (p.Val519=) c.1552_1555delinsGTTA (p.Val518=) c.*936_*939delinsGTTA (n.*936_*939delinsGTTA) n.2120_2123delinsGTTA c.*1334_*1337delinsGTTA (n.*1334_*1337delinsGTTA) c.1744_1747delinsGTTA (p.Val582=) c.1639_1642delinsGTTA (p.Val547=) n.727_730delinsGTTA c.1636_1639delinsGTTA (p.Val546=) c.1558_1561delinsGTTA (p.Val520=) c.1654_1657delinsGTTA (p.Val552=) n.2152_2155delinsGTTA c.1291_1294delinsGTTA (p.Val431=) c.1729_1732delinsGTTA (p.Val577=) c.1642_1645delinsGTTA (p.Val548=) c.1594_1597delinsGTTA (p.Val532=) c.1306_1309delinsGTTA (p.Val436=) c.1741_1744delinsGTTA (p.Val581=) c.1726_1729delinsGTTA (p.Val576=) | |
8 | g.71211195A= | CA1792681612 | EYA1 | c.1659T= (p.Val553=) c.1557T= (p.Val519=) c.1554T= (p.Val518=) c.*938T= (n.*938T=) n.2122T= c.*1336T= (n.*1336T=) c.1746T= (p.Val582=) c.1641T= (p.Val547=) n.729T= c.1638T= (p.Val546=) c.1560T= (p.Val520=) c.1656T= (p.Val552=) n.2154T= c.1293T= (p.Val431=) c.1731T= (p.Val577=) c.1644T= (p.Val548=) c.1596T= (p.Val532=) c.1308T= (p.Val436=) c.1743T= (p.Val581=) c.1728T= (p.Val576=) | |
8 | g.71211195A>C | CA461323690 | EYA1 | c.1659T>G (p.Val553=) c.1557T>G (p.Val519=) c.1554T>G (p.Val518=) c.*938T>G (n.*938T>G) n.2122T>G c.*1336T>G (n.*1336T>G) c.1746T>G (p.Val582=) c.1641T>G (p.Val547=) n.729T>G c.1638T>G (p.Val546=) c.1560T>G (p.Val520=) c.1656T>G (p.Val552=) n.2154T>G c.1293T>G (p.Val431=) c.1731T>G (p.Val577=) c.1644T>G (p.Val548=) c.1596T>G (p.Val532=) c.1308T>G (p.Val436=) c.1743T>G (p.Val581=) c.1728T>G (p.Val576=) | |
8 | g.71211195A>G | CA4779394 | EYA1 | c.1659T>C (p.Val553=) c.1557T>C (p.Val519=) c.1554T>C (p.Val518=) c.*938T>C (n.*938T>C) n.2122T>C c.*1336T>C (n.*1336T>C) c.1746T>C (p.Val582=) c.1641T>C (p.Val547=) n.729T>C c.1638T>C (p.Val546=) c.1560T>C (p.Val520=) c.1656T>C (p.Val552=) n.2154T>C c.1293T>C (p.Val431=) c.1731T>C (p.Val577=) c.1644T>C (p.Val548=) c.1596T>C (p.Val532=) c.1308T>C (p.Val436=) c.1743T>C (p.Val581=) c.1728T>C (p.Val576=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71211195A>T | CA461323691 | EYA1 | c.1659T>A (p.Val553=) c.1557T>A (p.Val519=) c.1554T>A (p.Val518=) c.*938T>A (n.*938T>A) n.2122T>A c.*1336T>A (n.*1336T>A) c.1746T>A (p.Val582=) c.1641T>A (p.Val547=) n.729T>A c.1638T>A (p.Val546=) c.1560T>A (p.Val520=) c.1656T>A (p.Val552=) n.2154T>A c.1293T>A (p.Val431=) c.1731T>A (p.Val577=) c.1644T>A (p.Val548=) c.1596T>A (p.Val532=) c.1308T>A (p.Val436=) c.1743T>A (p.Val581=) c.1728T>A (p.Val576=) | |
8 | g.71211196_71211199dup | CA2695209813 | EYA1 | c.1656_1659dup (p.Ile554CysfsTer?) c.1554_1557dup (p.Ile520CysfsTer?) c.1551_1554dup (p.Ile519CysfsTer?) c.*935_*938dup (n.*935_*938dup) n.2119_2122dup c.*1333_*1336dup (n.*1333_*1336dup) c.1743_1746dup (p.Ile583CysfsTer?) c.1638_1641dup (p.Ile548CysfsTer?) n.726_729dup c.1635_1638dup (p.Ile547CysfsTer?) c.1557_1560dup (p.Ile521CysfsTer?) c.1653_1656dup (p.Ile553CysfsTer?) n.2151_2154dup c.1290_1293dup (p.Ile432CysfsTer?) c.1728_1731dup (p.Ile578CysfsTer?) c.1641_1644dup (p.Ile549CysfsTer?) c.1593_1596dup (p.Ile533CysfsTer?) c.1305_1308dup (p.Ile437CysfsTer?) c.1740_1743dup (p.Ile582CysfsTer?) c.1725_1728dup (p.Ile577CysfsTer?) c.1743_1746dup (p.Ile583CysfsTer17) | |
8 | g.71211199_71211201del | CA891842917 | EYA1 | c.1657_1659del (p.Val553del) c.1555_1557del (p.Val519del) c.1552_1554del (p.Val518del) c.*936_*938del (n.*936_*938del) n.2120_2122del c.*1334_*1336del (n.*1334_*1336del) c.1744_1746del (p.Val582del) c.1639_1641del (p.Val547del) n.727_729del c.1636_1638del (p.Val546del) c.1558_1560del (p.Val520del) c.1654_1656del (p.Val552del) n.2152_2154del c.1291_1293del (p.Val431del) c.1729_1731del (p.Val577del) c.1642_1644del (p.Val548del) c.1594_1596del (p.Val532del) c.1306_1308del (p.Val436del) c.1741_1743del (p.Val581del) c.1726_1728del (p.Val576del) | ClinVar dbSNP |
8 | g.71211196A>C | CA371465893 | EYA1 | c.1658T>G (p.Val553Gly) c.1556T>G (p.Val519Gly) c.1553T>G (p.Val518Gly) c.*937T>G (n.*937T>G) n.2121T>G c.*1335T>G (n.*1335T>G) c.1745T>G (p.Val582Gly) c.1640T>G (p.Val547Gly) n.728T>G c.1637T>G (p.Val546Gly) c.1559T>G (p.Val520Gly) c.1655T>G (p.Val552Gly) n.2153T>G c.1292T>G (p.Val431Gly) c.1730T>G (p.Val577Gly) c.1643T>G (p.Val548Gly) c.1595T>G (p.Val532Gly) c.1307T>G (p.Val436Gly) c.1742T>G (p.Val581Gly) c.1727T>G (p.Val576Gly) | |
8 | g.71211196A>G | CA371465894 | EYA1 | c.1658T>C (p.Val553Ala) c.1556T>C (p.Val519Ala) c.1553T>C (p.Val518Ala) c.*937T>C (n.*937T>C) n.2121T>C c.*1335T>C (n.*1335T>C) c.1745T>C (p.Val582Ala) c.1640T>C (p.Val547Ala) n.728T>C c.1637T>C (p.Val546Ala) c.1559T>C (p.Val520Ala) c.1655T>C (p.Val552Ala) n.2153T>C c.1292T>C (p.Val431Ala) c.1730T>C (p.Val577Ala) c.1643T>C (p.Val548Ala) c.1595T>C (p.Val532Ala) c.1307T>C (p.Val436Ala) c.1742T>C (p.Val581Ala) c.1727T>C (p.Val576Ala) | |
8 | g.71211196A>T | CA371465895 | EYA1 | c.1658T>A (p.Val553Asp) c.1556T>A (p.Val519Asp) c.1553T>A (p.Val518Asp) c.*937T>A (n.*937T>A) n.2121T>A c.*1335T>A (n.*1335T>A) c.1745T>A (p.Val582Asp) c.1640T>A (p.Val547Asp) n.728T>A c.1637T>A (p.Val546Asp) c.1559T>A (p.Val520Asp) c.1655T>A (p.Val552Asp) n.2153T>A c.1292T>A (p.Val431Asp) c.1730T>A (p.Val577Asp) c.1643T>A (p.Val548Asp) c.1595T>A (p.Val532Asp) c.1307T>A (p.Val436Asp) c.1742T>A (p.Val581Asp) c.1727T>A (p.Val576Asp) | |
8 | g.71211197C>A | CA371465897 | EYA1 | c.1657G>T (p.Val553Phe) c.1555G>T (p.Val519Phe) c.1552G>T (p.Val518Phe) c.*936G>T (n.*936G>T) n.2120G>T c.*1334G>T (n.*1334G>T) c.1744G>T (p.Val582Phe) c.1639G>T (p.Val547Phe) n.727G>T c.1636G>T (p.Val546Phe) c.1558G>T (p.Val520Phe) c.1654G>T (p.Val552Phe) n.2152G>T c.1291G>T (p.Val431Phe) c.1729G>T (p.Val577Phe) c.1642G>T (p.Val548Phe) c.1594G>T (p.Val532Phe) c.1306G>T (p.Val436Phe) c.1741G>T (p.Val581Phe) c.1726G>T (p.Val576Phe) | |
8 | g.71211197C>G | CA371465898 | EYA1 | c.1657G>C (p.Val553Leu) c.1555G>C (p.Val519Leu) c.1552G>C (p.Val518Leu) c.*936G>C (n.*936G>C) n.2120G>C c.*1334G>C (n.*1334G>C) c.1744G>C (p.Val582Leu) c.1639G>C (p.Val547Leu) n.727G>C c.1636G>C (p.Val546Leu) c.1558G>C (p.Val520Leu) c.1654G>C (p.Val552Leu) n.2152G>C c.1291G>C (p.Val431Leu) c.1729G>C (p.Val577Leu) c.1642G>C (p.Val548Leu) c.1594G>C (p.Val532Leu) c.1306G>C (p.Val436Leu) c.1741G>C (p.Val581Leu) c.1726G>C (p.Val576Leu) | |
8 | g.71211197C>T | CA371465896 | EYA1 | c.1657G>A (p.Val553Ile) c.1555G>A (p.Val519Ile) c.1552G>A (p.Val518Ile) c.*936G>A (n.*936G>A) n.2120G>A c.*1334G>A (n.*1334G>A) c.1744G>A (p.Val582Ile) c.1639G>A (p.Val547Ile) n.727G>A c.1636G>A (p.Val546Ile) c.1558G>A (p.Val520Ile) c.1654G>A (p.Val552Ile) n.2152G>A c.1291G>A (p.Val431Ile) c.1729G>A (p.Val577Ile) c.1642G>A (p.Val548Ile) c.1594G>A (p.Val532Ile) c.1306G>A (p.Val436Ile) c.1741G>A (p.Val581Ile) c.1726G>A (p.Val576Ile) | gnomAD v4 |
8 | g.71211198A>C | CA461323692 | EYA1 | c.1656T>G (p.Val552=) c.1554T>G (p.Val518=) c.1551T>G (p.Val517=) c.*935T>G (n.*935T>G) n.2119T>G c.*1333T>G (n.*1333T>G) c.1743T>G (p.Val581=) c.1638T>G (p.Val546=) n.726T>G c.1635T>G (p.Val545=) c.1557T>G (p.Val519=) c.1653T>G (p.Val551=) n.2151T>G c.1290T>G (p.Val430=) c.1728T>G (p.Val576=) c.1641T>G (p.Val547=) c.1593T>G (p.Val531=) c.1305T>G (p.Val435=) c.1740T>G (p.Val580=) c.1725T>G (p.Val575=) | |
8 | g.71211198A>G | CA461323693 | EYA1 | c.1656T>C (p.Val552=) c.1554T>C (p.Val518=) c.1551T>C (p.Val517=) c.*935T>C (n.*935T>C) n.2119T>C c.*1333T>C (n.*1333T>C) c.1743T>C (p.Val581=) c.1638T>C (p.Val546=) n.726T>C c.1635T>C (p.Val545=) c.1557T>C (p.Val519=) c.1653T>C (p.Val551=) n.2151T>C c.1290T>C (p.Val430=) c.1728T>C (p.Val576=) c.1641T>C (p.Val547=) c.1593T>C (p.Val531=) c.1305T>C (p.Val435=) c.1740T>C (p.Val580=) c.1725T>C (p.Val575=) | |
8 | g.71211198A>T | CA461323694 | EYA1 | c.1656T>A (p.Val552=) c.1554T>A (p.Val518=) c.1551T>A (p.Val517=) c.*935T>A (n.*935T>A) n.2119T>A c.*1333T>A (n.*1333T>A) c.1743T>A (p.Val581=) c.1638T>A (p.Val546=) n.726T>A c.1635T>A (p.Val545=) c.1557T>A (p.Val519=) c.1653T>A (p.Val551=) n.2151T>A c.1290T>A (p.Val430=) c.1728T>A (p.Val576=) c.1641T>A (p.Val547=) c.1593T>A (p.Val531=) c.1305T>A (p.Val435=) c.1740T>A (p.Val580=) c.1725T>A (p.Val575=) | |
8 | g.71211199A>C | CA371465899 | EYA1 | c.1655T>G (p.Val552Gly) c.1553T>G (p.Val518Gly) c.1550T>G (p.Val517Gly) c.*934T>G (n.*934T>G) n.2118T>G c.*1332T>G (n.*1332T>G) c.1742T>G (p.Val581Gly) c.1637T>G (p.Val546Gly) n.725T>G c.1634T>G (p.Val545Gly) c.1556T>G (p.Val519Gly) c.1652T>G (p.Val551Gly) n.2150T>G c.1289T>G (p.Val430Gly) c.1727T>G (p.Val576Gly) c.1640T>G (p.Val547Gly) c.1592T>G (p.Val531Gly) c.1304T>G (p.Val435Gly) c.1739T>G (p.Val580Gly) c.1724T>G (p.Val575Gly) | |
8 | g.71211199A>G | CA371465900 | EYA1 | c.1655T>C (p.Val552Ala) c.1553T>C (p.Val518Ala) c.1550T>C (p.Val517Ala) c.*934T>C (n.*934T>C) n.2118T>C c.*1332T>C (n.*1332T>C) c.1742T>C (p.Val581Ala) c.1637T>C (p.Val546Ala) n.725T>C c.1634T>C (p.Val545Ala) c.1556T>C (p.Val519Ala) c.1652T>C (p.Val551Ala) n.2150T>C c.1289T>C (p.Val430Ala) c.1727T>C (p.Val576Ala) c.1640T>C (p.Val547Ala) c.1592T>C (p.Val531Ala) c.1304T>C (p.Val435Ala) c.1739T>C (p.Val580Ala) c.1724T>C (p.Val575Ala) | |
8 | g.71211199A>T | CA371465901 | EYA1 | c.1655T>A (p.Val552Asp) c.1553T>A (p.Val518Asp) c.1550T>A (p.Val517Asp) c.*934T>A (n.*934T>A) n.2118T>A c.*1332T>A (n.*1332T>A) c.1742T>A (p.Val581Asp) c.1637T>A (p.Val546Asp) n.725T>A c.1634T>A (p.Val545Asp) c.1556T>A (p.Val519Asp) c.1652T>A (p.Val551Asp) n.2150T>A c.1289T>A (p.Val430Asp) c.1727T>A (p.Val576Asp) c.1640T>A (p.Val547Asp) c.1592T>A (p.Val531Asp) c.1304T>A (p.Val435Asp) c.1739T>A (p.Val580Asp) c.1724T>A (p.Val575Asp) | |
8 | g.71211200C>A | CA371465902 | EYA1 | c.1654G>T (p.Val552Phe) c.1552G>T (p.Val518Phe) c.1549G>T (p.Val517Phe) c.*933G>T (n.*933G>T) n.2117G>T c.*1331G>T (n.*1331G>T) c.1741G>T (p.Val581Phe) c.1636G>T (p.Val546Phe) n.724G>T c.1633G>T (p.Val545Phe) c.1555G>T (p.Val519Phe) c.1651G>T (p.Val551Phe) n.2149G>T c.1288G>T (p.Val430Phe) c.1726G>T (p.Val576Phe) c.1639G>T (p.Val547Phe) c.1591G>T (p.Val531Phe) c.1303G>T (p.Val435Phe) c.1738G>T (p.Val580Phe) c.1723G>T (p.Val575Phe) | |
8 | g.71211200C>G | CA371465903 | EYA1 | c.1654G>C (p.Val552Leu) c.1552G>C (p.Val518Leu) c.1549G>C (p.Val517Leu) c.*933G>C (n.*933G>C) n.2117G>C c.*1331G>C (n.*1331G>C) c.1741G>C (p.Val581Leu) c.1636G>C (p.Val546Leu) n.724G>C c.1633G>C (p.Val545Leu) c.1555G>C (p.Val519Leu) c.1651G>C (p.Val551Leu) n.2149G>C c.1288G>C (p.Val430Leu) c.1726G>C (p.Val576Leu) c.1639G>C (p.Val547Leu) c.1591G>C (p.Val531Leu) c.1303G>C (p.Val435Leu) c.1738G>C (p.Val580Leu) c.1723G>C (p.Val575Leu) | |
8 | g.71211200C>T | CA371465904 | EYA1 | c.1654G>A (p.Val552Ile) c.1552G>A (p.Val518Ile) c.1549G>A (p.Val517Ile) c.*933G>A (n.*933G>A) n.2117G>A c.*1331G>A (n.*1331G>A) c.1741G>A (p.Val581Ile) c.1636G>A (p.Val546Ile) n.724G>A c.1633G>A (p.Val545Ile) c.1555G>A (p.Val519Ile) c.1651G>A (p.Val551Ile) n.2149G>A c.1288G>A (p.Val430Ile) c.1726G>A (p.Val576Ile) c.1639G>A (p.Val547Ile) c.1591G>A (p.Val531Ile) c.1303G>A (p.Val435Ile) c.1738G>A (p.Val580Ile) c.1723G>A (p.Val575Ile) | COSMIC COSMIC |
8 | g.71211201A= | CA1792681614 | EYA1 | c.1653T= (p.Tyr551=) c.1551T= (p.Tyr517=) c.1548T= (p.Tyr516=) c.*932T= (n.*932T=) n.2116T= c.*1330T= (n.*1330T=) c.1740T= (p.Tyr580=) c.1635T= (p.Tyr545=) n.723T= c.1632T= (p.Tyr544=) c.1554T= (p.Tyr518=) c.1650T= (p.Tyr550=) n.2148T= c.1287T= (p.Tyr429=) c.1725T= (p.Tyr575=) c.1638T= (p.Tyr546=) c.1590T= (p.Tyr530=) c.1302T= (p.Tyr434=) c.1737T= (p.Tyr579=) c.1722T= (p.Tyr574=) | |
8 | g.71211201A>C | CA371465905 | EYA1 | c.1653T>G (p.Tyr551Ter) c.1551T>G (p.Tyr517Ter) c.1548T>G (p.Tyr516Ter) c.*932T>G (n.*932T>G) n.2116T>G c.*1330T>G (n.*1330T>G) c.1740T>G (p.Tyr580Ter) c.1635T>G (p.Tyr545Ter) n.723T>G c.1632T>G (p.Tyr544Ter) c.1554T>G (p.Tyr518Ter) c.1650T>G (p.Tyr550Ter) n.2148T>G c.1287T>G (p.Tyr429Ter) c.1725T>G (p.Tyr575Ter) c.1638T>G (p.Tyr546Ter) c.1590T>G (p.Tyr530Ter) c.1302T>G (p.Tyr434Ter) c.1737T>G (p.Tyr579Ter) c.1722T>G (p.Tyr574Ter) | |
8 | g.71211201A>G | CA4779395 | EYA1 | c.1653T>C (p.Tyr551=) c.1551T>C (p.Tyr517=) c.1548T>C (p.Tyr516=) c.*932T>C (n.*932T>C) n.2116T>C c.*1330T>C (n.*1330T>C) c.1740T>C (p.Tyr580=) c.1635T>C (p.Tyr545=) n.723T>C c.1632T>C (p.Tyr544=) c.1554T>C (p.Tyr518=) c.1650T>C (p.Tyr550=) n.2148T>C c.1287T>C (p.Tyr429=) c.1725T>C (p.Tyr575=) c.1638T>C (p.Tyr546=) c.1590T>C (p.Tyr530=) c.1302T>C (p.Tyr434=) c.1737T>C (p.Tyr579=) c.1722T>C (p.Tyr574=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.71211201A>T | CA371465906 | EYA1 | c.1653T>A (p.Tyr551Ter) c.1551T>A (p.Tyr517Ter) c.1548T>A (p.Tyr516Ter) c.*932T>A (n.*932T>A) n.2116T>A c.*1330T>A (n.*1330T>A) c.1740T>A (p.Tyr580Ter) c.1635T>A (p.Tyr545Ter) n.723T>A c.1632T>A (p.Tyr544Ter) c.1554T>A (p.Tyr518Ter) c.1650T>A (p.Tyr550Ter) n.2148T>A c.1287T>A (p.Tyr429Ter) c.1725T>A (p.Tyr575Ter) c.1638T>A (p.Tyr546Ter) c.1590T>A (p.Tyr530Ter) c.1302T>A (p.Tyr434Ter) c.1737T>A (p.Tyr579Ter) c.1722T>A (p.Tyr574Ter) | |
8 | g.71211202T>A | CA371465907 | EYA1 | c.1652A>T (p.Tyr551Phe) c.1550A>T (p.Tyr517Phe) c.1547A>T (p.Tyr516Phe) c.*931A>T (n.*931A>T) n.2115A>T c.*1329A>T (n.*1329A>T) c.1739A>T (p.Tyr580Phe) c.1634A>T (p.Tyr545Phe) n.722A>T c.1631A>T (p.Tyr544Phe) c.1553A>T (p.Tyr518Phe) c.1649A>T (p.Tyr550Phe) n.2147A>T c.1286A>T (p.Tyr429Phe) c.1724A>T (p.Tyr575Phe) c.1637A>T (p.Tyr546Phe) c.1589A>T (p.Tyr530Phe) c.1301A>T (p.Tyr434Phe) c.1736A>T (p.Tyr579Phe) c.1721A>T (p.Tyr574Phe) | |
8 | g.71211202T>C | CA371465908 | EYA1 | c.1652A>G (p.Tyr551Cys) c.1550A>G (p.Tyr517Cys) c.1547A>G (p.Tyr516Cys) c.*931A>G (n.*931A>G) n.2115A>G c.*1329A>G (n.*1329A>G) c.1739A>G (p.Tyr580Cys) c.1634A>G (p.Tyr545Cys) n.722A>G c.1631A>G (p.Tyr544Cys) c.1553A>G (p.Tyr518Cys) c.1649A>G (p.Tyr550Cys) n.2147A>G c.1286A>G (p.Tyr429Cys) c.1724A>G (p.Tyr575Cys) c.1637A>G (p.Tyr546Cys) c.1589A>G (p.Tyr530Cys) c.1301A>G (p.Tyr434Cys) c.1736A>G (p.Tyr579Cys) c.1721A>G (p.Tyr574Cys) | |
8 | g.71211202T>G | CA371465909 | EYA1 | c.1652A>C (p.Tyr551Ser) c.1550A>C (p.Tyr517Ser) c.1547A>C (p.Tyr516Ser) c.*931A>C (n.*931A>C) n.2115A>C c.*1329A>C (n.*1329A>C) c.1739A>C (p.Tyr580Ser) c.1634A>C (p.Tyr545Ser) n.722A>C c.1631A>C (p.Tyr544Ser) c.1553A>C (p.Tyr518Ser) c.1649A>C (p.Tyr550Ser) n.2147A>C c.1286A>C (p.Tyr429Ser) c.1724A>C (p.Tyr575Ser) c.1637A>C (p.Tyr546Ser) c.1589A>C (p.Tyr530Ser) c.1301A>C (p.Tyr434Ser) c.1736A>C (p.Tyr579Ser) c.1721A>C (p.Tyr574Ser) | |
8 | g.71211203A>C | CA371465912 | EYA1 | c.1651T>G (p.Tyr551Asp) c.1549T>G (p.Tyr517Asp) c.1546T>G (p.Tyr516Asp) c.*930T>G (n.*930T>G) n.2114T>G c.*1328T>G (n.*1328T>G) c.1738T>G (p.Tyr580Asp) c.1633T>G (p.Tyr545Asp) n.721T>G c.1630T>G (p.Tyr544Asp) c.1552T>G (p.Tyr518Asp) c.1648T>G (p.Tyr550Asp) n.2146T>G c.1285T>G (p.Tyr429Asp) c.1723T>G (p.Tyr575Asp) c.1636T>G (p.Tyr546Asp) c.1588T>G (p.Tyr530Asp) c.1300T>G (p.Tyr434Asp) c.1735T>G (p.Tyr579Asp) c.1720T>G (p.Tyr574Asp) | |
8 | g.71211203A>G | CA371465911 | EYA1 | c.1651T>C (p.Tyr551His) c.1549T>C (p.Tyr517His) c.1546T>C (p.Tyr516His) c.*930T>C (n.*930T>C) n.2114T>C c.*1328T>C (n.*1328T>C) c.1738T>C (p.Tyr580His) c.1633T>C (p.Tyr545His) n.721T>C c.1630T>C (p.Tyr544His) c.1552T>C (p.Tyr518His) c.1648T>C (p.Tyr550His) n.2146T>C c.1285T>C (p.Tyr429His) c.1723T>C (p.Tyr575His) c.1636T>C (p.Tyr546His) c.1588T>C (p.Tyr530His) c.1300T>C (p.Tyr434His) c.1735T>C (p.Tyr579His) c.1720T>C (p.Tyr574His) | |
8 | g.71211203A>T | CA371465910 | EYA1 | c.1651T>A (p.Tyr551Asn) c.1549T>A (p.Tyr517Asn) c.1546T>A (p.Tyr516Asn) c.*930T>A (n.*930T>A) n.2114T>A c.*1328T>A (n.*1328T>A) c.1738T>A (p.Tyr580Asn) c.1633T>A (p.Tyr545Asn) n.721T>A c.1630T>A (p.Tyr544Asn) c.1552T>A (p.Tyr518Asn) c.1648T>A (p.Tyr550Asn) n.2146T>A c.1285T>A (p.Tyr429Asn) c.1723T>A (p.Tyr575Asn) c.1636T>A (p.Tyr546Asn) c.1588T>A (p.Tyr530Asn) c.1300T>A (p.Tyr434Asn) c.1735T>A (p.Tyr579Asn) c.1720T>A (p.Tyr574Asn) | |
8 | g.71211203dup | CA915940936 | EYA1 | c.1651dup (p.Tyr551LeufsTer?) c.1549dup (p.Tyr517LeufsTer?) c.1546dup (p.Tyr516LeufsTer?) c.*930dup (n.*930dup) n.2114dup c.*1328dup (n.*1328dup) c.1738dup (p.Tyr580LeufsTer?) c.1633dup (p.Tyr545LeufsTer?) n.721dup c.1630dup (p.Tyr544LeufsTer?) c.1552dup (p.Tyr518LeufsTer?) c.1648dup (p.Tyr550LeufsTer?) n.2146dup c.1285dup (p.Tyr429LeufsTer?) c.1723dup (p.Tyr575LeufsTer?) c.1636dup (p.Tyr546LeufsTer?) c.1588dup (p.Tyr530LeufsTer?) c.1300dup (p.Tyr434LeufsTer?) c.1735dup (p.Tyr579LeufsTer?) c.1720dup (p.Tyr574LeufsTer?) c.1738dup (p.Tyr580LeufsTer19) | |
8 | g.71211205_71211206dup | CA2580617175 | EYA1 | c.1650_1651dup (p.Tyr551CysfsTer5) c.1548_1549dup (p.Tyr517CysfsTer5) c.1545_1546dup (p.Tyr516CysfsTer5) c.*929_*930dup (n.*929_*930dup) n.2113_2114dup c.*1327_*1328dup (n.*1327_*1328dup) c.1737_1738dup (p.Tyr580CysfsTer5) c.1632_1633dup (p.Tyr545CysfsTer5) n.720_721dup c.1629_1630dup (p.Tyr544CysfsTer5) c.1551_1552dup (p.Tyr518CysfsTer5) c.1647_1648dup (p.Tyr550CysfsTer5) n.2145_2146dup c.1284_1285dup (p.Tyr429CysfsTer5) c.1722_1723dup (p.Tyr575CysfsTer5) c.1635_1636dup (p.Tyr546CysfsTer5) c.1587_1588dup (p.Tyr530CysfsTer5) c.1299_1300dup (p.Tyr434CysfsTer5) c.1734_1735dup (p.Tyr579CysfsTer5) c.1719_1720dup (p.Tyr574CysfsTer5) | ClinVar dbSNP |
8 | g.71211204C>A | CA4779396 | EYA1 | c.1650G>T (p.Val550=) c.1548G>T (p.Val516=) c.1545G>T (p.Val515=) c.*929G>T (n.*929G>T) n.2113G>T c.*1327G>T (n.*1327G>T) c.1737G>T (p.Val579=) c.1632G>T (p.Val544=) n.720G>T c.1629G>T (p.Val543=) c.1551G>T (p.Val517=) c.1647G>T (p.Val549=) n.2145G>T c.1284G>T (p.Val428=) c.1722G>T (p.Val574=) c.1635G>T (p.Val545=) c.1587G>T (p.Val529=) c.1299G>T (p.Val433=) c.1734G>T (p.Val578=) c.1719G>T (p.Val573=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71211204C= | CA1792681618 | EYA1 | c.1650G= (p.Val550=) c.1548G= (p.Val516=) c.1545G= (p.Val515=) c.*929G= (n.*929G=) n.2113G= c.*1327G= (n.*1327G=) c.1737G= (p.Val579=) c.1632G= (p.Val544=) n.720G= c.1629G= (p.Val543=) c.1551G= (p.Val517=) c.1647G= (p.Val549=) n.2145G= c.1284G= (p.Val428=) c.1722G= (p.Val574=) c.1635G= (p.Val545=) c.1587G= (p.Val529=) c.1299G= (p.Val433=) c.1734G= (p.Val578=) c.1719G= (p.Val573=) | |
8 | g.71211204C>G | CA461323695 | EYA1 | c.1650G>C (p.Val550=) c.1548G>C (p.Val516=) c.1545G>C (p.Val515=) c.*929G>C (n.*929G>C) n.2113G>C c.*1327G>C (n.*1327G>C) c.1737G>C (p.Val579=) c.1632G>C (p.Val544=) n.720G>C c.1629G>C (p.Val543=) c.1551G>C (p.Val517=) c.1647G>C (p.Val549=) n.2145G>C c.1284G>C (p.Val428=) c.1722G>C (p.Val574=) c.1635G>C (p.Val545=) c.1587G>C (p.Val529=) c.1299G>C (p.Val433=) c.1734G>C (p.Val578=) c.1719G>C (p.Val573=) | |
8 | g.71211204C>T | CA179207096 | EYA1 | c.1650G>A (p.Val550=) c.1548G>A (p.Val516=) c.1545G>A (p.Val515=) c.*929G>A (n.*929G>A) n.2113G>A c.*1327G>A (n.*1327G>A) c.1737G>A (p.Val579=) c.1632G>A (p.Val544=) n.720G>A c.1629G>A (p.Val543=) c.1551G>A (p.Val517=) c.1647G>A (p.Val549=) n.2145G>A c.1284G>A (p.Val428=) c.1722G>A (p.Val574=) c.1635G>A (p.Val545=) c.1587G>A (p.Val529=) c.1299G>A (p.Val433=) c.1734G>A (p.Val578=) c.1719G>A (p.Val573=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.71211205A= | CA1792681622 | EYA1 | c.1649T= (p.Val550=) c.1547T= (p.Val516=) c.1544T= (p.Val515=) c.*928T= (n.*928T=) n.2112T= c.*1326T= (n.*1326T=) c.1736T= (p.Val579=) c.1631T= (p.Val544=) n.719T= c.1628T= (p.Val543=) c.1550T= (p.Val517=) c.1646T= (p.Val549=) n.2144T= c.1283T= (p.Val428=) c.1721T= (p.Val574=) c.1634T= (p.Val545=) c.1586T= (p.Val529=) c.1298T= (p.Val433=) c.1733T= (p.Val578=) c.1718T= (p.Val573=) | |
8 | g.71211205A>C | CA371465913 | EYA1 | c.1649T>G (p.Val550Gly) c.1547T>G (p.Val516Gly) c.1544T>G (p.Val515Gly) c.*928T>G (n.*928T>G) n.2112T>G c.*1326T>G (n.*1326T>G) c.1736T>G (p.Val579Gly) c.1631T>G (p.Val544Gly) n.719T>G c.1628T>G (p.Val543Gly) c.1550T>G (p.Val517Gly) c.1646T>G (p.Val549Gly) n.2144T>G c.1283T>G (p.Val428Gly) c.1721T>G (p.Val574Gly) c.1634T>G (p.Val545Gly) c.1586T>G (p.Val529Gly) c.1298T>G (p.Val433Gly) c.1733T>G (p.Val578Gly) c.1718T>G (p.Val573Gly) | |
8 | g.71211205A>G | CA371465914 | EYA1 | c.1649T>C (p.Val550Ala) c.1547T>C (p.Val516Ala) c.1544T>C (p.Val515Ala) c.*928T>C (n.*928T>C) n.2112T>C c.*1326T>C (n.*1326T>C) c.1736T>C (p.Val579Ala) c.1631T>C (p.Val544Ala) n.719T>C c.1628T>C (p.Val543Ala) c.1550T>C (p.Val517Ala) c.1646T>C (p.Val549Ala) n.2144T>C c.1283T>C (p.Val428Ala) c.1721T>C (p.Val574Ala) c.1634T>C (p.Val545Ala) c.1586T>C (p.Val529Ala) c.1298T>C (p.Val433Ala) c.1733T>C (p.Val578Ala) c.1718T>C (p.Val573Ala) | dbSNP gnomAD v4 |
8 | g.71211205A>T | CA371465915 | EYA1 | c.1649T>A (p.Val550Glu) c.1547T>A (p.Val516Glu) c.1544T>A (p.Val515Glu) c.*928T>A (n.*928T>A) n.2112T>A c.*1326T>A (n.*1326T>A) c.1736T>A (p.Val579Glu) c.1631T>A (p.Val544Glu) n.719T>A c.1628T>A (p.Val543Glu) c.1550T>A (p.Val517Glu) c.1646T>A (p.Val549Glu) n.2144T>A c.1283T>A (p.Val428Glu) c.1721T>A (p.Val574Glu) c.1634T>A (p.Val545Glu) c.1586T>A (p.Val529Glu) c.1298T>A (p.Val433Glu) c.1733T>A (p.Val578Glu) c.1718T>A (p.Val573Glu) | |
8 | g.71211206C>A | CA371465916 | EYA1 | c.1648G>T (p.Val550Leu) c.1546G>T (p.Val516Leu) c.1543G>T (p.Val515Leu) c.*927G>T (n.*927G>T) n.2111G>T c.*1325G>T (n.*1325G>T) c.1735G>T (p.Val579Leu) c.1630G>T (p.Val544Leu) n.718G>T c.1627G>T (p.Val543Leu) c.1549G>T (p.Val517Leu) c.1645G>T (p.Val549Leu) n.2143G>T c.1282G>T (p.Val428Leu) c.1720G>T (p.Val574Leu) c.1633G>T (p.Val545Leu) c.1585G>T (p.Val529Leu) c.1297G>T (p.Val433Leu) c.1732G>T (p.Val578Leu) c.1717G>T (p.Val573Leu) | |
8 | g.71211206C>G | CA371465917 | EYA1 | c.1648G>C (p.Val550Leu) c.1546G>C (p.Val516Leu) c.1543G>C (p.Val515Leu) c.*927G>C (n.*927G>C) n.2111G>C c.*1325G>C (n.*1325G>C) c.1735G>C (p.Val579Leu) c.1630G>C (p.Val544Leu) n.718G>C c.1627G>C (p.Val543Leu) c.1549G>C (p.Val517Leu) c.1645G>C (p.Val549Leu) n.2143G>C c.1282G>C (p.Val428Leu) c.1720G>C (p.Val574Leu) c.1633G>C (p.Val545Leu) c.1585G>C (p.Val529Leu) c.1297G>C (p.Val433Leu) c.1732G>C (p.Val578Leu) c.1717G>C (p.Val573Leu) | |
8 | g.71211206C>T | CA371465918 | EYA1 | c.1648G>A (p.Val550Met) c.1546G>A (p.Val516Met) c.1543G>A (p.Val515Met) c.*927G>A (n.*927G>A) n.2111G>A c.*1325G>A (n.*1325G>A) c.1735G>A (p.Val579Met) c.1630G>A (p.Val544Met) n.718G>A c.1627G>A (p.Val543Met) c.1549G>A (p.Val517Met) c.1645G>A (p.Val549Met) n.2143G>A c.1282G>A (p.Val428Met) c.1720G>A (p.Val574Met) c.1633G>A (p.Val545Met) c.1585G>A (p.Val529Met) c.1297G>A (p.Val433Met) c.1732G>A (p.Val578Met) c.1717G>A (p.Val573Met) | |
8 | g.71211207C>A | CA461323696 | EYA1 | c.1647G>T (p.Val549=) c.1545G>T (p.Val515=) c.1542G>T (p.Val514=) c.*926G>T (n.*926G>T) n.2110G>T c.*1324G>T (n.*1324G>T) c.1734G>T (p.Val578=) c.1629G>T (p.Val543=) n.717G>T c.1626G>T (p.Val542=) c.1548G>T (p.Val516=) c.1644G>T (p.Val548=) n.2142G>T c.1281G>T (p.Val427=) c.1719G>T (p.Val573=) c.1632G>T (p.Val544=) c.1584G>T (p.Val528=) c.1296G>T (p.Val432=) c.1731G>T (p.Val577=) c.1716G>T (p.Val572=) | |
8 | g.71211207C>G | CA461323697 | EYA1 | c.1647G>C (p.Val549=) c.1545G>C (p.Val515=) c.1542G>C (p.Val514=) c.*926G>C (n.*926G>C) n.2110G>C c.*1324G>C (n.*1324G>C) c.1734G>C (p.Val578=) c.1629G>C (p.Val543=) n.717G>C c.1626G>C (p.Val542=) c.1548G>C (p.Val516=) c.1644G>C (p.Val548=) n.2142G>C c.1281G>C (p.Val427=) c.1719G>C (p.Val573=) c.1632G>C (p.Val544=) c.1584G>C (p.Val528=) c.1296G>C (p.Val432=) c.1731G>C (p.Val577=) c.1716G>C (p.Val572=) | |
8 | g.71211207C>T | CA461323698 | EYA1 | c.1647G>A (p.Val549=) c.1545G>A (p.Val515=) c.1542G>A (p.Val514=) c.*926G>A (n.*926G>A) n.2110G>A c.*1324G>A (n.*1324G>A) c.1734G>A (p.Val578=) c.1629G>A (p.Val543=) n.717G>A c.1626G>A (p.Val542=) c.1548G>A (p.Val516=) c.1644G>A (p.Val548=) n.2142G>A c.1281G>A (p.Val427=) c.1719G>A (p.Val573=) c.1632G>A (p.Val544=) c.1584G>A (p.Val528=) c.1296G>A (p.Val432=) c.1731G>A (p.Val577=) c.1716G>A (p.Val572=) | gnomAD v4 |
8 | g.71211208A= | CA1792681628 | EYA1 | c.1646T= (p.Val549=) c.1544T= (p.Val515=) c.1541T= (p.Val514=) c.*925T= (n.*925T=) n.2109T= c.*1323T= (n.*1323T=) c.1733T= (p.Val578=) c.1628T= (p.Val543=) n.716T= c.1625T= (p.Val542=) c.1547T= (p.Val516=) c.1643T= (p.Val548=) n.2141T= c.1280T= (p.Val427=) c.1718T= (p.Val573=) c.1631T= (p.Val544=) c.1583T= (p.Val528=) c.1295T= (p.Val432=) c.1730T= (p.Val577=) c.1715T= (p.Val572=) | |
8 | g.71211208A>C | CA371465919 | EYA1 | c.1646T>G (p.Val549Gly) c.1544T>G (p.Val515Gly) c.1541T>G (p.Val514Gly) c.*925T>G (n.*925T>G) n.2109T>G c.*1323T>G (n.*1323T>G) c.1733T>G (p.Val578Gly) c.1628T>G (p.Val543Gly) n.716T>G c.1625T>G (p.Val542Gly) c.1547T>G (p.Val516Gly) c.1643T>G (p.Val548Gly) n.2141T>G c.1280T>G (p.Val427Gly) c.1718T>G (p.Val573Gly) c.1631T>G (p.Val544Gly) c.1583T>G (p.Val528Gly) c.1295T>G (p.Val432Gly) c.1730T>G (p.Val577Gly) c.1715T>G (p.Val572Gly) | |
8 | g.71211208A>G | CA4779397 | EYA1 | c.1646T>C (p.Val549Ala) c.1544T>C (p.Val515Ala) c.1541T>C (p.Val514Ala) c.*925T>C (n.*925T>C) n.2109T>C c.*1323T>C (n.*1323T>C) c.1733T>C (p.Val578Ala) c.1628T>C (p.Val543Ala) n.716T>C c.1625T>C (p.Val542Ala) c.1547T>C (p.Val516Ala) c.1643T>C (p.Val548Ala) n.2141T>C c.1280T>C (p.Val427Ala) c.1718T>C (p.Val573Ala) c.1631T>C (p.Val544Ala) c.1583T>C (p.Val528Ala) c.1295T>C (p.Val432Ala) c.1730T>C (p.Val577Ala) c.1715T>C (p.Val572Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.71211208A>T | CA371465920 | EYA1 | c.1646T>A (p.Val549Glu) c.1544T>A (p.Val515Glu) c.1541T>A (p.Val514Glu) c.*925T>A (n.*925T>A) n.2109T>A c.*1323T>A (n.*1323T>A) c.1733T>A (p.Val578Glu) c.1628T>A (p.Val543Glu) n.716T>A c.1625T>A (p.Val542Glu) c.1547T>A (p.Val516Glu) c.1643T>A (p.Val548Glu) n.2141T>A c.1280T>A (p.Val427Glu) c.1718T>A (p.Val573Glu) c.1631T>A (p.Val544Glu) c.1583T>A (p.Val528Glu) c.1295T>A (p.Val432Glu) c.1730T>A (p.Val577Glu) c.1715T>A (p.Val572Glu) | |
8 | g.71211209C>A | CA371465921 | EYA1 | c.1645G>T (p.Val549Leu) c.1543G>T (p.Val515Leu) c.1540G>T (p.Val514Leu) c.*924G>T (n.*924G>T) n.2108G>T c.*1322G>T (n.*1322G>T) c.1732G>T (p.Val578Leu) c.1627G>T (p.Val543Leu) n.715G>T c.1624G>T (p.Val542Leu) c.1546G>T (p.Val516Leu) c.1642G>T (p.Val548Leu) n.2140G>T c.1279G>T (p.Val427Leu) c.1717G>T (p.Val573Leu) c.1630G>T (p.Val544Leu) c.1582G>T (p.Val528Leu) c.1294G>T (p.Val432Leu) c.1729G>T (p.Val577Leu) c.1714G>T (p.Val572Leu) | |
8 | g.71211209C>G | CA371465922 | EYA1 | c.1645G>C (p.Val549Leu) c.1543G>C (p.Val515Leu) c.1540G>C (p.Val514Leu) c.*924G>C (n.*924G>C) n.2108G>C c.*1322G>C (n.*1322G>C) c.1732G>C (p.Val578Leu) c.1627G>C (p.Val543Leu) n.715G>C c.1624G>C (p.Val542Leu) c.1546G>C (p.Val516Leu) c.1642G>C (p.Val548Leu) n.2140G>C c.1279G>C (p.Val427Leu) c.1717G>C (p.Val573Leu) c.1630G>C (p.Val544Leu) c.1582G>C (p.Val528Leu) c.1294G>C (p.Val432Leu) c.1729G>C (p.Val577Leu) c.1714G>C (p.Val572Leu) | gnomAD v4 |
8 | g.71211209C>T | CA371465923 | EYA1 | c.1645G>A (p.Val549Met) c.1543G>A (p.Val515Met) c.1540G>A (p.Val514Met) c.*924G>A (n.*924G>A) n.2108G>A c.*1322G>A (n.*1322G>A) c.1732G>A (p.Val578Met) c.1627G>A (p.Val543Met) n.715G>A c.1624G>A (p.Val542Met) c.1546G>A (p.Val516Met) c.1642G>A (p.Val548Met) n.2140G>A c.1279G>A (p.Val427Met) c.1717G>A (p.Val573Met) c.1630G>A (p.Val544Met) c.1582G>A (p.Val528Met) c.1294G>A (p.Val432Met) c.1729G>A (p.Val577Met) c.1714G>A (p.Val572Met) | |
8 | g.71211209_71211211dup | CA2687599358 | EYA1 | c.1643_1645dup (p.Lys548_Val549insGlu) c.1541_1543dup (p.Lys514_Val515insGlu) c.1538_1540dup (p.Lys513_Val514insGlu) c.*922_*924dup (n.*922_*924dup) n.2106_2108dup c.*1320_*1322dup (n.*1320_*1322dup) c.1730_1732dup (p.Lys577_Val578insGlu) c.1625_1627dup (p.Lys542_Val543insGlu) n.713_715dup c.1622_1624dup (p.Lys541_Val542insGlu) c.1544_1546dup (p.Lys515_Val516insGlu) c.1640_1642dup (p.Lys547_Val548insGlu) n.2138_2140dup c.1277_1279dup (p.Lys426_Val427insGlu) c.1715_1717dup (p.Lys572_Val573insGlu) c.1628_1630dup (p.Lys543_Val544insGlu) c.1580_1582dup (p.Lys527_Val528insGlu) c.1292_1294dup (p.Lys431_Val432insGlu) c.1727_1729dup (p.Lys576_Val577insGlu) c.1712_1714dup (p.Lys571_Val572insGlu) | gnomAD v4 |
8 | g.71211212_71211216del | CA2695209814 | EYA1 | c.1641_1645del (p.Arg547SerfsTer?) c.1539_1543del (p.Arg513SerfsTer?) c.1536_1540del (p.Arg512SerfsTer?) c.*920_*924del (n.*920_*924del) n.2104_2108del c.*1318_*1322del (n.*1318_*1322del) c.1728_1732del (p.Arg576SerfsTer?) c.1623_1627del (p.Arg541SerfsTer?) n.711_715del c.1620_1624del (p.Arg540SerfsTer?) c.1542_1546del (p.Arg514SerfsTer?) c.1638_1642del (p.Arg546SerfsTer?) n.2136_2140del c.1275_1279del (p.Arg425SerfsTer?) c.1713_1717del (p.Arg571SerfsTer?) c.1626_1630del (p.Arg542SerfsTer?) c.1578_1582del (p.Arg526SerfsTer?) c.1290_1294del (p.Arg430SerfsTer?) c.1725_1729del (p.Arg575SerfsTer?) c.1710_1714del (p.Arg570SerfsTer?) c.1728_1732del (p.Arg576SerfsTer21) | |
8 | g.71211210T>A | CA371465924 | EYA1 | c.1644A>T (p.Lys548Asn) c.1542A>T (p.Lys514Asn) c.1539A>T (p.Lys513Asn) c.*923A>T (n.*923A>T) n.2107A>T c.*1321A>T (n.*1321A>T) c.1731A>T (p.Lys577Asn) c.1626A>T (p.Lys542Asn) n.714A>T c.1623A>T (p.Lys541Asn) c.1545A>T (p.Lys515Asn) c.1641A>T (p.Lys547Asn) n.2139A>T c.1278A>T (p.Lys426Asn) c.1716A>T (p.Lys572Asn) c.1629A>T (p.Lys543Asn) c.1581A>T (p.Lys527Asn) c.1293A>T (p.Lys431Asn) c.1728A>T (p.Lys576Asn) c.1713A>T (p.Lys571Asn) | |
8 | g.71211210T>C | CA461323699 | EYA1 | c.1644A>G (p.Lys548=) c.1542A>G (p.Lys514=) c.1539A>G (p.Lys513=) c.*923A>G (n.*923A>G) n.2107A>G c.*1321A>G (n.*1321A>G) c.1731A>G (p.Lys577=) c.1626A>G (p.Lys542=) n.714A>G c.1623A>G (p.Lys541=) c.1545A>G (p.Lys515=) c.1641A>G (p.Lys547=) n.2139A>G c.1278A>G (p.Lys426=) c.1716A>G (p.Lys572=) c.1629A>G (p.Lys543=) c.1581A>G (p.Lys527=) c.1293A>G (p.Lys431=) c.1728A>G (p.Lys576=) c.1713A>G (p.Lys571=) | |
8 | g.71211210T>G | CA371465925 | EYA1 | c.1644A>C (p.Lys548Asn) c.1542A>C (p.Lys514Asn) c.1539A>C (p.Lys513Asn) c.*923A>C (n.*923A>C) n.2107A>C c.*1321A>C (n.*1321A>C) c.1731A>C (p.Lys577Asn) c.1626A>C (p.Lys542Asn) n.714A>C c.1623A>C (p.Lys541Asn) c.1545A>C (p.Lys515Asn) c.1641A>C (p.Lys547Asn) n.2139A>C c.1278A>C (p.Lys426Asn) c.1716A>C (p.Lys572Asn) c.1629A>C (p.Lys543Asn) c.1581A>C (p.Lys527Asn) c.1293A>C (p.Lys431Asn) c.1728A>C (p.Lys576Asn) c.1713A>C (p.Lys571Asn) | |
8 | g.71211212_71211213dup | CA2695209815 | EYA1 | c.1643_1644dup (p.Val549LysfsTer7) c.1541_1542dup (p.Val515LysfsTer7) c.1538_1539dup (p.Val514LysfsTer7) c.*922_*923dup (n.*922_*923dup) n.2106_2107dup c.*1320_*1321dup (n.*1320_*1321dup) c.1730_1731dup (p.Val578LysfsTer7) c.1625_1626dup (p.Val543LysfsTer7) n.713_714dup c.1622_1623dup (p.Val542LysfsTer7) c.1544_1545dup (p.Val516LysfsTer7) c.1640_1641dup (p.Val548LysfsTer7) n.2138_2139dup c.1277_1278dup (p.Val427LysfsTer7) c.1715_1716dup (p.Val573LysfsTer7) c.1628_1629dup (p.Val544LysfsTer7) c.1580_1581dup (p.Val528LysfsTer7) c.1292_1293dup (p.Val432LysfsTer7) c.1727_1728dup (p.Val577LysfsTer7) c.1712_1713dup (p.Val572LysfsTer7) | |
8 | g.71211213del | CA2499219393 | EYA1 | c.1644del (p.Val549TrpfsTer6) c.1542del (p.Val515TrpfsTer6) c.1539del (p.Val514TrpfsTer6) c.*923del (n.*923del) n.2107del c.*1321del (n.*1321del) c.1731del (p.Val578TrpfsTer6) c.1626del (p.Val543TrpfsTer6) n.714del c.1623del (p.Val542TrpfsTer6) c.1545del (p.Val516TrpfsTer6) c.1641del (p.Val548TrpfsTer6) n.2139del c.1278del (p.Val427TrpfsTer6) c.1716del (p.Val573TrpfsTer6) c.1629del (p.Val544TrpfsTer6) c.1581del (p.Val528TrpfsTer6) c.1293del (p.Val432TrpfsTer6) c.1728del (p.Val577TrpfsTer6) c.1713del (p.Val572TrpfsTer6) | ClinVar dbSNP |
8 | g.71211211T>A | CA371465926 | EYA1 | c.1643A>T (p.Lys548Ile) c.1541A>T (p.Lys514Ile) c.1538A>T (p.Lys513Ile) c.*922A>T (n.*922A>T) n.2106A>T c.*1320A>T (n.*1320A>T) c.1730A>T (p.Lys577Ile) c.1625A>T (p.Lys542Ile) n.713A>T c.1622A>T (p.Lys541Ile) c.1544A>T (p.Lys515Ile) c.1640A>T (p.Lys547Ile) n.2138A>T c.1277A>T (p.Lys426Ile) c.1715A>T (p.Lys572Ile) c.1628A>T (p.Lys543Ile) c.1580A>T (p.Lys527Ile) c.1292A>T (p.Lys431Ile) c.1727A>T (p.Lys576Ile) c.1712A>T (p.Lys571Ile) | |
8 | g.71211211T>C | CA371465928 | EYA1 | c.1643A>G (p.Lys548Arg) c.1541A>G (p.Lys514Arg) c.1538A>G (p.Lys513Arg) c.*922A>G (n.*922A>G) n.2106A>G c.*1320A>G (n.*1320A>G) c.1730A>G (p.Lys577Arg) c.1625A>G (p.Lys542Arg) n.713A>G c.1622A>G (p.Lys541Arg) c.1544A>G (p.Lys515Arg) c.1640A>G (p.Lys547Arg) n.2138A>G c.1277A>G (p.Lys426Arg) c.1715A>G (p.Lys572Arg) c.1628A>G (p.Lys543Arg) c.1580A>G (p.Lys527Arg) c.1292A>G (p.Lys431Arg) c.1727A>G (p.Lys576Arg) c.1712A>G (p.Lys571Arg) | |
8 | g.71211211T>G | CA371465927 | EYA1 | c.1643A>C (p.Lys548Thr) c.1541A>C (p.Lys514Thr) c.1538A>C (p.Lys513Thr) c.*922A>C (n.*922A>C) n.2106A>C c.*1320A>C (n.*1320A>C) c.1730A>C (p.Lys577Thr) c.1625A>C (p.Lys542Thr) n.713A>C c.1622A>C (p.Lys541Thr) c.1544A>C (p.Lys515Thr) c.1640A>C (p.Lys547Thr) n.2138A>C c.1277A>C (p.Lys426Thr) c.1715A>C (p.Lys572Thr) c.1628A>C (p.Lys543Thr) c.1580A>C (p.Lys527Thr) c.1292A>C (p.Lys431Thr) c.1727A>C (p.Lys576Thr) c.1712A>C (p.Lys571Thr) | |
8 | g.71211212T>A | CA371465929 | EYA1 | c.1642A>T (p.Lys548Ter) c.1540A>T (p.Lys514Ter) c.1537A>T (p.Lys513Ter) c.*921A>T (n.*921A>T) n.2105A>T c.*1319A>T (n.*1319A>T) c.1729A>T (p.Lys577Ter) c.1624A>T (p.Lys542Ter) n.712A>T c.1621A>T (p.Lys541Ter) c.1543A>T (p.Lys515Ter) c.1639A>T (p.Lys547Ter) n.2137A>T c.1276A>T (p.Lys426Ter) c.1714A>T (p.Lys572Ter) c.1627A>T (p.Lys543Ter) c.1579A>T (p.Lys527Ter) c.1291A>T (p.Lys431Ter) c.1726A>T (p.Lys576Ter) c.1711A>T (p.Lys571Ter) | |
8 | g.71211212T>C | CA371465930 | EYA1 | c.1642A>G (p.Lys548Glu) c.1540A>G (p.Lys514Glu) c.1537A>G (p.Lys513Glu) c.*921A>G (n.*921A>G) n.2105A>G c.*1319A>G (n.*1319A>G) c.1729A>G (p.Lys577Glu) c.1624A>G (p.Lys542Glu) n.712A>G c.1621A>G (p.Lys541Glu) c.1543A>G (p.Lys515Glu) c.1639A>G (p.Lys547Glu) n.2137A>G c.1276A>G (p.Lys426Glu) c.1714A>G (p.Lys572Glu) c.1627A>G (p.Lys543Glu) c.1579A>G (p.Lys527Glu) c.1291A>G (p.Lys431Glu) c.1726A>G (p.Lys576Glu) c.1711A>G (p.Lys571Glu) | |
8 | g.71211212T>G | CA371465931 | EYA1 | c.1642A>C (p.Lys548Gln) c.1540A>C (p.Lys514Gln) c.1537A>C (p.Lys513Gln) c.*921A>C (n.*921A>C) n.2105A>C c.*1319A>C (n.*1319A>C) c.1729A>C (p.Lys577Gln) c.1624A>C (p.Lys542Gln) n.712A>C c.1621A>C (p.Lys541Gln) c.1543A>C (p.Lys515Gln) c.1639A>C (p.Lys547Gln) n.2137A>C c.1276A>C (p.Lys426Gln) c.1714A>C (p.Lys572Gln) c.1627A>C (p.Lys543Gln) c.1579A>C (p.Lys527Gln) c.1291A>C (p.Lys431Gln) c.1726A>C (p.Lys576Gln) c.1711A>C (p.Lys571Gln) | |
8 | g.71211213T>A | CA371465932 | EYA1 | c.1641A>T (p.Arg547Ser) c.1539A>T (p.Arg513Ser) c.1536A>T (p.Arg512Ser) c.*920A>T (n.*920A>T) n.2104A>T c.*1318A>T (n.*1318A>T) c.1728A>T (p.Arg576Ser) c.1623A>T (p.Arg541Ser) n.711A>T c.1620A>T (p.Arg540Ser) c.1542A>T (p.Arg514Ser) c.1638A>T (p.Arg546Ser) n.2136A>T c.1275A>T (p.Arg425Ser) c.1713A>T (p.Arg571Ser) c.1626A>T (p.Arg542Ser) c.1578A>T (p.Arg526Ser) c.1290A>T (p.Arg430Ser) c.1725A>T (p.Arg575Ser) c.1710A>T (p.Arg570Ser) | |
8 | g.71211213T>C | CA461323700 | EYA1 | c.1641A>G (p.Arg547=) c.1539A>G (p.Arg513=) c.1536A>G (p.Arg512=) c.*920A>G (n.*920A>G) n.2104A>G c.*1318A>G (n.*1318A>G) c.1728A>G (p.Arg576=) c.1623A>G (p.Arg541=) n.711A>G c.1620A>G (p.Arg540=) c.1542A>G (p.Arg514=) c.1638A>G (p.Arg546=) n.2136A>G c.1275A>G (p.Arg425=) c.1713A>G (p.Arg571=) c.1626A>G (p.Arg542=) c.1578A>G (p.Arg526=) c.1290A>G (p.Arg430=) c.1725A>G (p.Arg575=) c.1710A>G (p.Arg570=) | COSMIC COSMIC |
8 | g.71211213T>G | CA371465933 | EYA1 | c.1641A>C (p.Arg547Ser) c.1539A>C (p.Arg513Ser) c.1536A>C (p.Arg512Ser) c.*920A>C (n.*920A>C) n.2104A>C c.*1318A>C (n.*1318A>C) c.1728A>C (p.Arg576Ser) c.1623A>C (p.Arg541Ser) n.711A>C c.1620A>C (p.Arg540Ser) c.1542A>C (p.Arg514Ser) c.1638A>C (p.Arg546Ser) n.2136A>C c.1275A>C (p.Arg425Ser) c.1713A>C (p.Arg571Ser) c.1626A>C (p.Arg542Ser) c.1578A>C (p.Arg526Ser) c.1290A>C (p.Arg430Ser) c.1725A>C (p.Arg575Ser) c.1710A>C (p.Arg570Ser) | |
8 | g.71211214C>A | CA371465934 | EYA1 | c.1640G>T (p.Arg547Ile) c.1538G>T (p.Arg513Ile) c.1535G>T (p.Arg512Ile) c.*919G>T (n.*919G>T) n.2103G>T c.*1317G>T (n.*1317G>T) c.1727G>T (p.Arg576Ile) c.1622G>T (p.Arg541Ile) n.710G>T c.1619G>T (p.Arg540Ile) c.1541G>T (p.Arg514Ile) c.1637G>T (p.Arg546Ile) n.2135G>T c.1274G>T (p.Arg425Ile) c.1712G>T (p.Arg571Ile) c.1625G>T (p.Arg542Ile) c.1577G>T (p.Arg526Ile) c.1289G>T (p.Arg430Ile) c.1724G>T (p.Arg575Ile) c.1709G>T (p.Arg570Ile) | |
8 | g.71211214C>G | CA371465935 | EYA1 | c.1640G>C (p.Arg547Thr) c.1538G>C (p.Arg513Thr) c.1535G>C (p.Arg512Thr) c.*919G>C (n.*919G>C) n.2103G>C c.*1317G>C (n.*1317G>C) c.1727G>C (p.Arg576Thr) c.1622G>C (p.Arg541Thr) n.710G>C c.1619G>C (p.Arg540Thr) c.1541G>C (p.Arg514Thr) c.1637G>C (p.Arg546Thr) n.2135G>C c.1274G>C (p.Arg425Thr) c.1712G>C (p.Arg571Thr) c.1625G>C (p.Arg542Thr) c.1577G>C (p.Arg526Thr) c.1289G>C (p.Arg430Thr) c.1724G>C (p.Arg575Thr) c.1709G>C (p.Arg570Thr) | |
8 | g.71211214C>T | CA371465936 | EYA1 | c.1640G>A (p.Arg547Lys) c.1538G>A (p.Arg513Lys) c.1535G>A (p.Arg512Lys) c.*919G>A (n.*919G>A) n.2103G>A c.*1317G>A (n.*1317G>A) c.1727G>A (p.Arg576Lys) c.1622G>A (p.Arg541Lys) n.710G>A c.1619G>A (p.Arg540Lys) c.1541G>A (p.Arg514Lys) c.1637G>A (p.Arg546Lys) n.2135G>A c.1274G>A (p.Arg425Lys) c.1712G>A (p.Arg571Lys) c.1625G>A (p.Arg542Lys) c.1577G>A (p.Arg526Lys) c.1289G>A (p.Arg430Lys) c.1724G>A (p.Arg575Lys) c.1709G>A (p.Arg570Lys) | |
8 | g.71211215T>A | CA371465937 | EYA1 | c.1639A>T (p.Arg547Ter) c.1537A>T (p.Arg513Ter) c.1534A>T (p.Arg512Ter) c.*918A>T (n.*918A>T) n.2102A>T c.*1316A>T (n.*1316A>T) c.1726A>T (p.Arg576Ter) c.1621A>T (p.Arg541Ter) n.709A>T c.1618A>T (p.Arg540Ter) c.1540A>T (p.Arg514Ter) c.1636A>T (p.Arg546Ter) n.2134A>T c.1273A>T (p.Arg425Ter) c.1711A>T (p.Arg571Ter) c.1624A>T (p.Arg542Ter) c.1576A>T (p.Arg526Ter) c.1288A>T (p.Arg430Ter) c.1723A>T (p.Arg575Ter) c.1708A>T (p.Arg570Ter) | |
8 | g.71211215T>C | CA119164 | EYA1 | c.1639A>G (p.Arg547Gly) c.1537A>G (p.Arg513Gly) c.1534A>G (p.Arg512Gly) c.*918A>G (n.*918A>G) n.2102A>G c.*1316A>G (n.*1316A>G) c.1726A>G (p.Arg576Gly) c.1621A>G (p.Arg541Gly) n.709A>G c.1618A>G (p.Arg540Gly) c.1540A>G (p.Arg514Gly) c.1636A>G (p.Arg546Gly) n.2134A>G c.1273A>G (p.Arg425Gly) c.1711A>G (p.Arg571Gly) c.1624A>G (p.Arg542Gly) c.1576A>G (p.Arg526Gly) c.1288A>G (p.Arg430Gly) c.1723A>G (p.Arg575Gly) c.1708A>G (p.Arg570Gly) | ClinVar dbSNP |
8 | g.71211215T>G | CA461323701 | EYA1 | c.1639A>C (p.Arg547=) c.1537A>C (p.Arg513=) c.1534A>C (p.Arg512=) c.*918A>C (n.*918A>C) n.2102A>C c.*1316A>C (n.*1316A>C) c.1726A>C (p.Arg576=) c.1621A>C (p.Arg541=) n.709A>C c.1618A>C (p.Arg540=) c.1540A>C (p.Arg514=) c.1636A>C (p.Arg546=) n.2134A>C c.1273A>C (p.Arg425=) c.1711A>C (p.Arg571=) c.1624A>C (p.Arg542=) c.1576A>C (p.Arg526=) c.1288A>C (p.Arg430=) c.1723A>C (p.Arg575=) c.1708A>C (p.Arg570=) | |
8 | g.71211215T= | CA1792681633 | EYA1 | c.1639A= (p.Arg547=) c.1537A= (p.Arg513=) c.1534A= (p.Arg512=) c.*918A= (n.*918A=) n.2102A= c.*1316A= (n.*1316A=) c.1726A= (p.Arg576=) c.1621A= (p.Arg541=) n.709A= c.1618A= (p.Arg540=) c.1540A= (p.Arg514=) c.1636A= (p.Arg546=) n.2134A= c.1273A= (p.Arg425=) c.1711A= (p.Arg571=) c.1624A= (p.Arg542=) c.1576A= (p.Arg526=) c.1288A= (p.Arg430=) c.1723A= (p.Arg575=) c.1708A= (p.Arg570=) | |
8 | g.71211216T>A | CA461323704 | EYA1 | c.1638A>T (p.Gly546=) c.1536A>T (p.Gly512=) c.1533A>T (p.Gly511=) c.*917A>T (n.*917A>T) n.2101A>T c.*1315A>T (n.*1315A>T) c.1725A>T (p.Gly575=) c.1620A>T (p.Gly540=) n.708A>T c.1617A>T (p.Gly539=) c.1539A>T (p.Gly513=) c.1635A>T (p.Gly545=) n.2133A>T c.1272A>T (p.Gly424=) c.1710A>T (p.Gly570=) c.1623A>T (p.Gly541=) c.1575A>T (p.Gly525=) c.1287A>T (p.Gly429=) c.1722A>T (p.Gly574=) c.1707A>T (p.Gly569=) | |
8 | g.71211216T>C | CA461323703 | EYA1 | c.1638A>G (p.Gly546=) c.1536A>G (p.Gly512=) c.1533A>G (p.Gly511=) c.*917A>G (n.*917A>G) n.2101A>G c.*1315A>G (n.*1315A>G) c.1725A>G (p.Gly575=) c.1620A>G (p.Gly540=) n.708A>G c.1617A>G (p.Gly539=) c.1539A>G (p.Gly513=) c.1635A>G (p.Gly545=) n.2133A>G c.1272A>G (p.Gly424=) c.1710A>G (p.Gly570=) c.1623A>G (p.Gly541=) c.1575A>G (p.Gly525=) c.1287A>G (p.Gly429=) c.1722A>G (p.Gly574=) c.1707A>G (p.Gly569=) | |
8 | g.71211216T>G | CA461323702 | EYA1 | c.1638A>C (p.Gly546=) c.1536A>C (p.Gly512=) c.1533A>C (p.Gly511=) c.*917A>C (n.*917A>C) n.2101A>C c.*1315A>C (n.*1315A>C) c.1725A>C (p.Gly575=) c.1620A>C (p.Gly540=) n.708A>C c.1617A>C (p.Gly539=) c.1539A>C (p.Gly513=) c.1635A>C (p.Gly545=) n.2133A>C c.1272A>C (p.Gly424=) c.1710A>C (p.Gly570=) c.1623A>C (p.Gly541=) c.1575A>C (p.Gly525=) c.1287A>C (p.Gly429=) c.1722A>C (p.Gly574=) c.1707A>C (p.Gly569=) | gnomAD v4 |
8 | g.71211217C>A | CA371465938 | EYA1 | c.1637G>T (p.Gly546Val) c.1535G>T (p.Gly512Val) c.1532G>T (p.Gly511Val) c.*916G>T (n.*916G>T) n.2100G>T c.*1314G>T (n.*1314G>T) c.1724G>T (p.Gly575Val) c.1619G>T (p.Gly540Val) n.707G>T c.1616G>T (p.Gly539Val) c.1538G>T (p.Gly513Val) c.1634G>T (p.Gly545Val) n.2132G>T c.1271G>T (p.Gly424Val) c.1709G>T (p.Gly570Val) c.1622G>T (p.Gly541Val) c.1574G>T (p.Gly525Val) c.1286G>T (p.Gly429Val) c.1721G>T (p.Gly574Val) c.1706G>T (p.Gly569Val) | |
8 | g.71211217C>G | CA371465939 | EYA1 | c.1637G>C (p.Gly546Ala) c.1535G>C (p.Gly512Ala) c.1532G>C (p.Gly511Ala) c.*916G>C (n.*916G>C) n.2100G>C c.*1314G>C (n.*1314G>C) c.1724G>C (p.Gly575Ala) c.1619G>C (p.Gly540Ala) n.707G>C c.1616G>C (p.Gly539Ala) c.1538G>C (p.Gly513Ala) c.1634G>C (p.Gly545Ala) n.2132G>C c.1271G>C (p.Gly424Ala) c.1709G>C (p.Gly570Ala) c.1622G>C (p.Gly541Ala) c.1574G>C (p.Gly525Ala) c.1286G>C (p.Gly429Ala) c.1721G>C (p.Gly574Ala) c.1706G>C (p.Gly569Ala) | |
8 | g.71211217C>T | CA371465940 | EYA1 | c.1637G>A (p.Gly546Glu) c.1535G>A (p.Gly512Glu) c.1532G>A (p.Gly511Glu) c.*916G>A (n.*916G>A) n.2100G>A c.*1314G>A (n.*1314G>A) c.1724G>A (p.Gly575Glu) c.1619G>A (p.Gly540Glu) n.707G>A c.1616G>A (p.Gly539Glu) c.1538G>A (p.Gly513Glu) c.1634G>A (p.Gly545Glu) n.2132G>A c.1271G>A (p.Gly424Glu) c.1709G>A (p.Gly570Glu) c.1622G>A (p.Gly541Glu) c.1574G>A (p.Gly525Glu) c.1286G>A (p.Gly429Glu) c.1721G>A (p.Gly574Glu) c.1706G>A (p.Gly569Glu) | |
8 | g.71211218C>A | CA371465941 | EYA1 | c.1636G>T (p.Gly546Ter) c.1534G>T (p.Gly512Ter) c.1531G>T (p.Gly511Ter) c.*915G>T (n.*915G>T) n.2099G>T c.*1313G>T (n.*1313G>T) c.1723G>T (p.Gly575Ter) c.1618G>T (p.Gly540Ter) n.706G>T c.1615G>T (p.Gly539Ter) c.1537G>T (p.Gly513Ter) c.1633G>T (p.Gly545Ter) n.2131G>T c.1270G>T (p.Gly424Ter) c.1708G>T (p.Gly570Ter) c.1621G>T (p.Gly541Ter) c.1573G>T (p.Gly525Ter) c.1285G>T (p.Gly429Ter) c.1720G>T (p.Gly574Ter) c.1705G>T (p.Gly569Ter) | |
8 | g.71211218C>G | CA371465943 | EYA1 | c.1636G>C (p.Gly546Arg) c.1534G>C (p.Gly512Arg) c.1531G>C (p.Gly511Arg) c.*915G>C (n.*915G>C) n.2099G>C c.*1313G>C (n.*1313G>C) c.1723G>C (p.Gly575Arg) c.1618G>C (p.Gly540Arg) n.706G>C c.1615G>C (p.Gly539Arg) c.1537G>C (p.Gly513Arg) c.1633G>C (p.Gly545Arg) n.2131G>C c.1270G>C (p.Gly424Arg) c.1708G>C (p.Gly570Arg) c.1621G>C (p.Gly541Arg) c.1573G>C (p.Gly525Arg) c.1285G>C (p.Gly429Arg) c.1720G>C (p.Gly574Arg) c.1705G>C (p.Gly569Arg) | |
8 | g.71211218C>T | CA371465942 | EYA1 | c.1636G>A (p.Gly546Arg) c.1534G>A (p.Gly512Arg) c.1531G>A (p.Gly511Arg) c.*915G>A (n.*915G>A) n.2099G>A c.*1313G>A (n.*1313G>A) c.1723G>A (p.Gly575Arg) c.1618G>A (p.Gly540Arg) n.706G>A c.1615G>A (p.Gly539Arg) c.1537G>A (p.Gly513Arg) c.1633G>A (p.Gly545Arg) n.2131G>A c.1270G>A (p.Gly424Arg) c.1708G>A (p.Gly570Arg) c.1621G>A (p.Gly541Arg) c.1573G>A (p.Gly525Arg) c.1285G>A (p.Gly429Arg) c.1720G>A (p.Gly574Arg) c.1705G>A (p.Gly569Arg) | |
8 | g.71211218_71211219delinsCA | CA1792681639 | EYA1 | c.1635_1636delinsTG (p.Phe545=) c.1533_1534delinsTG (p.Phe511=) c.1530_1531delinsTG (p.Phe510=) c.*914_*915delinsTG (n.*914_*915delinsTG) n.2098_2099delinsTG c.*1312_*1313delinsTG (n.*1312_*1313delinsTG) c.1722_1723delinsTG (p.Phe574=) c.1617_1618delinsTG (p.Phe539=) n.705_706delinsTG c.1614_1615delinsTG (p.Phe538=) c.1536_1537delinsTG (p.Phe512=) c.1632_1633delinsTG (p.Phe544=) n.2130_2131delinsTG c.1269_1270delinsTG (p.Phe423=) c.1707_1708delinsTG (p.Phe569=) c.1620_1621delinsTG (p.Phe540=) c.1572_1573delinsTG (p.Phe524=) c.1284_1285delinsTG (p.Phe428=) c.1719_1720delinsTG (p.Phe573=) c.1704_1705delinsTG (p.Phe568=) | |
8 | g.71211219A>C | CA371465944 | EYA1 | c.1635T>G (p.Phe545Leu) c.1533T>G (p.Phe511Leu) c.1530T>G (p.Phe510Leu) c.*914T>G (n.*914T>G) n.2098T>G c.*1312T>G (n.*1312T>G) c.1722T>G (p.Phe574Leu) c.1617T>G (p.Phe539Leu) n.705T>G c.1614T>G (p.Phe538Leu) c.1536T>G (p.Phe512Leu) c.1632T>G (p.Phe544Leu) n.2130T>G c.1269T>G (p.Phe423Leu) c.1707T>G (p.Phe569Leu) c.1620T>G (p.Phe540Leu) c.1572T>G (p.Phe524Leu) c.1284T>G (p.Phe428Leu) c.1719T>G (p.Phe573Leu) c.1704T>G (p.Phe568Leu) | |
8 | g.71211219A>G | CA461323705 | EYA1 | c.1635T>C (p.Phe545=) c.1533T>C (p.Phe511=) c.1530T>C (p.Phe510=) c.*914T>C (n.*914T>C) n.2098T>C c.*1312T>C (n.*1312T>C) c.1722T>C (p.Phe574=) c.1617T>C (p.Phe539=) n.705T>C c.1614T>C (p.Phe538=) c.1536T>C (p.Phe512=) c.1632T>C (p.Phe544=) n.2130T>C c.1269T>C (p.Phe423=) c.1707T>C (p.Phe569=) c.1620T>C (p.Phe540=) c.1572T>C (p.Phe524=) c.1284T>C (p.Phe428=) c.1719T>C (p.Phe573=) c.1704T>C (p.Phe568=) | |
8 | g.71211219A>T | CA371465945 | EYA1 | c.1635T>A (p.Phe545Leu) c.1533T>A (p.Phe511Leu) c.1530T>A (p.Phe510Leu) c.*914T>A (n.*914T>A) n.2098T>A c.*1312T>A (n.*1312T>A) c.1722T>A (p.Phe574Leu) c.1617T>A (p.Phe539Leu) n.705T>A c.1614T>A (p.Phe538Leu) c.1536T>A (p.Phe512Leu) c.1632T>A (p.Phe544Leu) n.2130T>A c.1269T>A (p.Phe423Leu) c.1707T>A (p.Phe569Leu) c.1620T>A (p.Phe540Leu) c.1572T>A (p.Phe524Leu) c.1284T>A (p.Phe428Leu) c.1719T>A (p.Phe573Leu) c.1704T>A (p.Phe568Leu) | |
8 | g.71211221del | CA1139660595 | EYA1 | c.1635del (p.Phe545LeufsTer10) c.1533del (p.Phe511LeufsTer10) c.1530del (p.Phe510LeufsTer10) c.*914del (n.*914del) n.2098del c.*1312del (n.*1312del) c.1722del (p.Phe574LeufsTer10) c.1617del (p.Phe539LeufsTer10) n.705del c.1614del (p.Phe538LeufsTer10) c.1536del (p.Phe512LeufsTer10) c.1632del (p.Phe544LeufsTer10) n.2130del c.1269del (p.Phe423LeufsTer10) c.1707del (p.Phe569LeufsTer10) c.1620del (p.Phe540LeufsTer10) c.1572del (p.Phe524LeufsTer10) c.1284del (p.Phe428LeufsTer10) c.1719del (p.Phe573LeufsTer10) c.1704del (p.Phe568LeufsTer10) | ClinVar dbSNP |
8 | g.71211220A= | CA1792681645 | EYA1 | c.1634T= (p.Phe545=) c.1532T= (p.Phe511=) c.1529T= (p.Phe510=) c.*913T= (n.*913T=) n.2097T= c.*1311T= (n.*1311T=) c.1721T= (p.Phe574=) c.1616T= (p.Phe539=) n.704T= c.1613T= (p.Phe538=) c.1535T= (p.Phe512=) c.1631T= (p.Phe544=) n.2129T= c.1268T= (p.Phe423=) c.1706T= (p.Phe569=) c.1619T= (p.Phe540=) c.1571T= (p.Phe524=) c.1283T= (p.Phe428=) c.1718T= (p.Phe573=) c.1703T= (p.Phe568=) | |
8 | g.71211220A>C | CA371465946 | EYA1 | c.1634T>G (p.Phe545Cys) c.1532T>G (p.Phe511Cys) c.1529T>G (p.Phe510Cys) c.*913T>G (n.*913T>G) n.2097T>G c.*1311T>G (n.*1311T>G) c.1721T>G (p.Phe574Cys) c.1616T>G (p.Phe539Cys) n.704T>G c.1613T>G (p.Phe538Cys) c.1535T>G (p.Phe512Cys) c.1631T>G (p.Phe544Cys) n.2129T>G c.1268T>G (p.Phe423Cys) c.1706T>G (p.Phe569Cys) c.1619T>G (p.Phe540Cys) c.1571T>G (p.Phe524Cys) c.1283T>G (p.Phe428Cys) c.1718T>G (p.Phe573Cys) c.1703T>G (p.Phe568Cys) | |
8 | g.71211220A>G | CA371465947 | EYA1 | c.1634T>C (p.Phe545Ser) c.1532T>C (p.Phe511Ser) c.1529T>C (p.Phe510Ser) c.*913T>C (n.*913T>C) n.2097T>C c.*1311T>C (n.*1311T>C) c.1721T>C (p.Phe574Ser) c.1616T>C (p.Phe539Ser) n.704T>C c.1613T>C (p.Phe538Ser) c.1535T>C (p.Phe512Ser) c.1631T>C (p.Phe544Ser) n.2129T>C c.1268T>C (p.Phe423Ser) c.1706T>C (p.Phe569Ser) c.1619T>C (p.Phe540Ser) c.1571T>C (p.Phe524Ser) c.1283T>C (p.Phe428Ser) c.1718T>C (p.Phe573Ser) c.1703T>C (p.Phe568Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.71211220A>T | CA371465948 | EYA1 | c.1634T>A (p.Phe545Tyr) c.1532T>A (p.Phe511Tyr) c.1529T>A (p.Phe510Tyr) c.*913T>A (n.*913T>A) n.2097T>A c.*1311T>A (n.*1311T>A) c.1721T>A (p.Phe574Tyr) c.1616T>A (p.Phe539Tyr) n.704T>A c.1613T>A (p.Phe538Tyr) c.1535T>A (p.Phe512Tyr) c.1631T>A (p.Phe544Tyr) n.2129T>A c.1268T>A (p.Phe423Tyr) c.1706T>A (p.Phe569Tyr) c.1619T>A (p.Phe540Tyr) c.1571T>A (p.Phe524Tyr) c.1283T>A (p.Phe428Tyr) c.1718T>A (p.Phe573Tyr) c.1703T>A (p.Phe568Tyr) | |
8 | g.71211221A= | CA1792681649 | EYA1 | c.1633T= (p.Phe545=) c.1531T= (p.Phe511=) c.1528T= (p.Phe510=) c.*912T= (n.*912T=) n.2096T= c.*1310T= (n.*1310T=) c.1720T= (p.Phe574=) c.1615T= (p.Phe539=) n.703T= c.1612T= (p.Phe538=) c.1534T= (p.Phe512=) c.1630T= (p.Phe544=) n.2128T= c.1267T= (p.Phe423=) c.1705T= (p.Phe569=) c.1618T= (p.Phe540=) c.1570T= (p.Phe524=) c.1282T= (p.Phe428=) c.1717T= (p.Phe573=) c.1702T= (p.Phe568=) | |
8 | g.71211221A>C | CA371465949 | EYA1 | c.1633T>G (p.Phe545Val) c.1531T>G (p.Phe511Val) c.1528T>G (p.Phe510Val) c.*912T>G (n.*912T>G) n.2096T>G c.*1310T>G (n.*1310T>G) c.1720T>G (p.Phe574Val) c.1615T>G (p.Phe539Val) n.703T>G c.1612T>G (p.Phe538Val) c.1534T>G (p.Phe512Val) c.1630T>G (p.Phe544Val) n.2128T>G c.1267T>G (p.Phe423Val) c.1705T>G (p.Phe569Val) c.1618T>G (p.Phe540Val) c.1570T>G (p.Phe524Val) c.1282T>G (p.Phe428Val) c.1717T>G (p.Phe573Val) c.1702T>G (p.Phe568Val) | |
8 | g.71211221A>G | CA371465950 | EYA1 | c.1633T>C (p.Phe545Leu) c.1531T>C (p.Phe511Leu) c.1528T>C (p.Phe510Leu) c.*912T>C (n.*912T>C) n.2096T>C c.*1310T>C (n.*1310T>C) c.1720T>C (p.Phe574Leu) c.1615T>C (p.Phe539Leu) n.703T>C c.1612T>C (p.Phe538Leu) c.1534T>C (p.Phe512Leu) c.1630T>C (p.Phe544Leu) n.2128T>C c.1267T>C (p.Phe423Leu) c.1705T>C (p.Phe569Leu) c.1618T>C (p.Phe540Leu) c.1570T>C (p.Phe524Leu) c.1282T>C (p.Phe428Leu) c.1717T>C (p.Phe573Leu) c.1702T>C (p.Phe568Leu) | |
8 | g.71211221A>T | CA371465951 | EYA1 | c.1633T>A (p.Phe545Ile) c.1531T>A (p.Phe511Ile) c.1528T>A (p.Phe510Ile) c.*912T>A (n.*912T>A) n.2096T>A c.*1310T>A (n.*1310T>A) c.1720T>A (p.Phe574Ile) c.1615T>A (p.Phe539Ile) n.703T>A c.1612T>A (p.Phe538Ile) c.1534T>A (p.Phe512Ile) c.1630T>A (p.Phe544Ile) n.2128T>A c.1267T>A (p.Phe423Ile) c.1705T>A (p.Phe569Ile) c.1618T>A (p.Phe540Ile) c.1570T>A (p.Phe524Ile) c.1282T>A (p.Phe428Ile) c.1717T>A (p.Phe573Ile) c.1702T>A (p.Phe568Ile) | dbSNP |
8 | g.71211222C>A | CA371465952 | EYA1 | c.1632G>T (p.Arg544Ser) c.1530G>T (p.Arg510Ser) c.1527G>T (p.Arg509Ser) c.*911G>T (n.*911G>T) n.2095G>T c.*1309G>T (n.*1309G>T) c.1719G>T (p.Arg573Ser) c.1614G>T (p.Arg538Ser) n.702G>T c.1611G>T (p.Arg537Ser) c.1533G>T (p.Arg511Ser) c.1629G>T (p.Arg543Ser) n.2127G>T c.1266G>T (p.Arg422Ser) c.1704G>T (p.Arg568Ser) c.1617G>T (p.Arg539Ser) c.1569G>T (p.Arg523Ser) c.1281G>T (p.Arg427Ser) c.1716G>T (p.Arg572Ser) c.1701G>T (p.Arg567Ser) | gnomAD v4 COSMIC COSMIC |
8 | g.71211222C>G | CA371465953 | EYA1 | c.1632G>C (p.Arg544Ser) c.1530G>C (p.Arg510Ser) c.1527G>C (p.Arg509Ser) c.*911G>C (n.*911G>C) n.2095G>C c.*1309G>C (n.*1309G>C) c.1719G>C (p.Arg573Ser) c.1614G>C (p.Arg538Ser) n.702G>C c.1611G>C (p.Arg537Ser) c.1533G>C (p.Arg511Ser) c.1629G>C (p.Arg543Ser) n.2127G>C c.1266G>C (p.Arg422Ser) c.1704G>C (p.Arg568Ser) c.1617G>C (p.Arg539Ser) c.1569G>C (p.Arg523Ser) c.1281G>C (p.Arg427Ser) c.1716G>C (p.Arg572Ser) c.1701G>C (p.Arg567Ser) | |
8 | g.71211222C>T | CA461323706 | EYA1 | c.1632G>A (p.Arg544=) c.1530G>A (p.Arg510=) c.1527G>A (p.Arg509=) c.*911G>A (n.*911G>A) n.2095G>A c.*1309G>A (n.*1309G>A) c.1719G>A (p.Arg573=) c.1614G>A (p.Arg538=) n.702G>A c.1611G>A (p.Arg537=) c.1533G>A (p.Arg511=) c.1629G>A (p.Arg543=) n.2127G>A c.1266G>A (p.Arg422=) c.1704G>A (p.Arg568=) c.1617G>A (p.Arg539=) c.1569G>A (p.Arg523=) c.1281G>A (p.Arg427=) c.1716G>A (p.Arg572=) c.1701G>A (p.Arg567=) | |
8 | g.71211223C>A | CA371465955 | EYA1 | c.1631G>T (p.Arg544Met) c.1529G>T (p.Arg510Met) c.1526G>T (p.Arg509Met) c.*910G>T (n.*910G>T) n.2094G>T c.*1308G>T (n.*1308G>T) c.1718G>T (p.Arg573Met) c.1613G>T (p.Arg538Met) n.701G>T c.1610G>T (p.Arg537Met) c.1532G>T (p.Arg511Met) c.1628G>T (p.Arg543Met) n.2126G>T c.1265G>T (p.Arg422Met) c.1703G>T (p.Arg568Met) c.1616G>T (p.Arg539Met) c.1568G>T (p.Arg523Met) c.1280G>T (p.Arg427Met) c.1715G>T (p.Arg572Met) c.1700G>T (p.Arg567Met) | gnomAD v4 |
8 | g.71211223C= | CA1792681652 | EYA1 | c.1631G= (p.Arg544=) c.1529G= (p.Arg510=) c.1526G= (p.Arg509=) c.*910G= (n.*910G=) n.2094G= c.*1308G= (n.*1308G=) c.1718G= (p.Arg573=) c.1613G= (p.Arg538=) n.701G= c.1610G= (p.Arg537=) c.1532G= (p.Arg511=) c.1628G= (p.Arg543=) n.2126G= c.1265G= (p.Arg422=) c.1703G= (p.Arg568=) c.1616G= (p.Arg539=) c.1568G= (p.Arg523=) c.1280G= (p.Arg427=) c.1715G= (p.Arg572=) c.1700G= (p.Arg567=) | |
8 | g.71211223C>G | CA371465954 | EYA1 | c.1631G>C (p.Arg544Thr) c.1529G>C (p.Arg510Thr) c.1526G>C (p.Arg509Thr) c.*910G>C (n.*910G>C) n.2094G>C c.*1308G>C (n.*1308G>C) c.1718G>C (p.Arg573Thr) c.1613G>C (p.Arg538Thr) n.701G>C c.1610G>C (p.Arg537Thr) c.1532G>C (p.Arg511Thr) c.1628G>C (p.Arg543Thr) n.2126G>C c.1265G>C (p.Arg422Thr) c.1703G>C (p.Arg568Thr) c.1616G>C (p.Arg539Thr) c.1568G>C (p.Arg523Thr) c.1280G>C (p.Arg427Thr) c.1715G>C (p.Arg572Thr) c.1700G>C (p.Arg567Thr) | |
8 | g.71211223C>T | CA4779398 | EYA1 | c.1631G>A (p.Arg544Lys) c.1529G>A (p.Arg510Lys) c.1526G>A (p.Arg509Lys) c.*910G>A (n.*910G>A) n.2094G>A c.*1308G>A (n.*1308G>A) c.1718G>A (p.Arg573Lys) c.1613G>A (p.Arg538Lys) n.701G>A c.1610G>A (p.Arg537Lys) c.1532G>A (p.Arg511Lys) c.1628G>A (p.Arg543Lys) n.2126G>A c.1265G>A (p.Arg422Lys) c.1703G>A (p.Arg568Lys) c.1616G>A (p.Arg539Lys) c.1568G>A (p.Arg523Lys) c.1280G>A (p.Arg427Lys) c.1715G>A (p.Arg572Lys) c.1700G>A (p.Arg567Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |