| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.66560654_66560665dup | CA600232698 | ACTN3 | c.1759_1770dup (p.Gln590_Lys591insGlyGluIleGln) c.1888_1899dup (p.Gln633_Lys634insGlyGluIleGln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66560659G>A | CA6124846 | ACTN3 | c.1764G>A (p.Glu588=) c.1893G>A (p.Glu631=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66560659G>C | CA381447642 | ACTN3 | c.1764G>C (p.Glu588Asp) c.1893G>C (p.Glu631Asp) | gnomAD v4 |
| 11 | g.66560659G= | CA1979721546 | ACTN3 | c.1764G= (p.Glu588=) c.1893G= (p.Glu631=) | |
| 11 | g.66560659G>T | CA381447644 | ACTN3 | c.1764G>T (p.Glu588Asp) c.1893G>T (p.Glu631Asp) | |
| 11 | g.66560660A>C | CA381447647 | ACTN3 | c.1765A>C (p.Ile589Leu) c.1894A>C (p.Ile632Leu) | |
| 11 | g.66560660A>G | CA381447650 | ACTN3 | c.1765A>G (p.Ile589Val) c.1894A>G (p.Ile632Val) | |
| 11 | g.66560660A>T | CA381447652 | ACTN3 | c.1765A>T (p.Ile589Phe) c.1894A>T (p.Ile632Phe) | |
| 11 | g.66560661T>A | CA381447657 | ACTN3 | c.1766T>A (p.Ile589Asn) c.1895T>A (p.Ile632Asn) | |
| 11 | g.66560661T>C | CA381447662 | ACTN3 | c.1766T>C (p.Ile589Thr) c.1895T>C (p.Ile632Thr) | |
| 11 | g.66560661T>G | CA381447656 | ACTN3 | c.1766T>G (p.Ile589Ser) c.1895T>G (p.Ile632Ser) | |
| 11 | g.66560662C>A | CA475494356 | ACTN3 | c.1767C>A (p.Ile589=) c.1896C>A (p.Ile632=) | |
| 11 | g.66560662C>G | CA381447665 | ACTN3 | c.1767C>G (p.Ile589Met) c.1896C>G (p.Ile632Met) | |
| 11 | g.66560662C>T | CA475494358 | ACTN3 | c.1767C>T (p.Ile589=) c.1896C>T (p.Ile632=) | |
| 11 | g.66560663C>A | CA381447668 | ACTN3 | c.1768C>A (p.Gln590Lys) c.1897C>A (p.Gln633Lys) | |
| 11 | g.66560663C>G | CA381447673 | ACTN3 | c.1768C>G (p.Gln590Glu) c.1897C>G (p.Gln633Glu) | |
| 11 | g.66560663C>T | CA381447671 | ACTN3 | c.1768C>T (p.Gln590Ter) c.1897C>T (p.Gln633Ter) | gnomAD v4 |
| 11 | g.66560663_66560666delinsCAGA | CA1979721550 | ACTN3 | c.1768_1771delinsCAGA (p.Gln590=) c.1897_1900delinsCAGA (p.Gln633=) | |
| 11 | g.66560664A>C | CA381447678 | ACTN3 | c.1769A>C (p.Gln590Pro) c.1898A>C (p.Gln633Pro) | |
| 11 | g.66560664A>G | CA381447679 | ACTN3 | c.1769A>G (p.Gln590Arg) c.1898A>G (p.Gln633Arg) | |
| 11 | g.66560664A>T | CA381447681 | ACTN3 | c.1769A>T (p.Gln590Leu) c.1898A>T (p.Gln633Leu) | |
| 11 | g.66560667_66560669del | CA6124847 | ACTN3 | c.1772_1774del (p.Lys591del) c.1901_1903del (p.Lys634del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66560665G>A | CA475494362 | ACTN3 | c.1770G>A (p.Gln590=) c.1899G>A (p.Gln633=) | |
| 11 | g.66560665G>C | CA381447685 | ACTN3 | c.1770G>C (p.Gln590His) c.1899G>C (p.Gln633His) | |
| 11 | g.66560665G>T | CA381447687 | ACTN3 | c.1770G>T (p.Gln590His) c.1899G>T (p.Gln633His) | |
| 11 | g.66560666A>C | CA381447689 | ACTN3 | c.1771A>C (p.Lys591Gln) c.1900A>C (p.Lys634Gln) | |
| 11 | g.66560666A>G | CA381447692 | ACTN3 | c.1771A>G (p.Lys591Glu) c.1900A>G (p.Lys634Glu) | |
| 11 | g.66560666A>T | CA381447694 | ACTN3 | c.1771A>T (p.Lys591Ter) c.1900A>T (p.Lys634Ter) | |
| 11 | g.66560667A>C | CA381447697 | ACTN3 | c.1772A>C (p.Lys591Thr) c.1901A>C (p.Lys634Thr) | |
| 11 | g.66560667A>G | CA381447700 | ACTN3 | c.1772A>G (p.Lys591Arg) c.1901A>G (p.Lys634Arg) | |
| 11 | g.66560667A>T | CA381447703 | ACTN3 | c.1772A>T (p.Lys591Met) c.1901A>T (p.Lys634Met) | |
| 11 | g.66560668G>A | CA475494366 | ACTN3 | c.1773G>A (p.Lys591=) c.1902G>A (p.Lys634=) | |
| 11 | g.66560668G>C | CA381447706 | ACTN3 | c.1773G>C (p.Lys591Asn) c.1902G>C (p.Lys634Asn) | |
| 11 | g.66560668G>T | CA381447705 | ACTN3 | c.1773G>T (p.Lys591Asn) c.1902G>T (p.Lys634Asn) | gnomAD v4 COSMIC |
| 11 | g.66560669A>C | CA381447709 | ACTN3 | c.1774A>C (p.Ile592Leu) c.1903A>C (p.Ile635Leu) | |
| 11 | g.66560669A>G | CA381447712 | ACTN3 | c.1774A>G (p.Ile592Val) c.1903A>G (p.Ile635Val) | |
| 11 | g.66560669A>T | CA381447714 | ACTN3 | c.1774A>T (p.Ile592Phe) c.1903A>T (p.Ile635Phe) | |
| 11 | g.66560670T>A | CA381447716 | ACTN3 | c.1775T>A (p.Ile592Asn) c.1904T>A (p.Ile635Asn) | |
| 11 | g.66560670T>C | CA381447718 | ACTN3 | c.1775T>C (p.Ile592Thr) c.1904T>C (p.Ile635Thr) | gnomAD v4 |
| 11 | g.66560670T>G | CA381447720 | ACTN3 | c.1775T>G (p.Ile592Ser) c.1904T>G (p.Ile635Ser) | |
| 11 | g.66560671C>A | CA475494371 | ACTN3 | c.1776C>A (p.Ile592=) c.1905C>A (p.Ile635=) | |
| 11 | g.66560671C= | CA1979721556 | ACTN3 | c.1776C= (p.Ile592=) c.1905C= (p.Ile635=) | |
| 11 | g.66560671C>G | CA6124848 | ACTN3 | c.1776C>G (p.Ile592Met) c.1905C>G (p.Ile635Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66560671C>T | CA475494373 | ACTN3 | c.1776C>T (p.Ile592=) c.1905C>T (p.Ile635=) | |
| 11 | g.66560672T>A | CA381447724 | ACTN3 | c.1777T>A (p.Cys593Ser) c.1906T>A (p.Cys636Ser) | |
| 11 | g.66560672T>C | CA381447726 | ACTN3 | c.1777T>C (p.Cys593Arg) c.1906T>C (p.Cys636Arg) | |
| 11 | g.66560672T>G | CA381447729 | ACTN3 | c.1777T>G (p.Cys593Gly) c.1906T>G (p.Cys636Gly) | |
| 11 | g.66560673G>A | CA381447732 | ACTN3 | c.1778G>A (p.Cys593Tyr) c.1907G>A (p.Cys636Tyr) | gnomAD v4 |
| 11 | g.66560673G>C | CA381447734 | ACTN3 | c.1778G>C (p.Cys593Ser) c.1907G>C (p.Cys636Ser) | |
| 11 | g.66560673G>T | CA381447736 | ACTN3 | c.1778G>T (p.Cys593Phe) c.1907G>T (p.Cys636Phe) | |
| 11 | g.66560674C>A | CA381447740 | ACTN3 | c.1779C>A (p.Cys593Ter) c.1908C>A (p.Cys636Ter) | |
| 11 | g.66560674C>G | CA381447742 | ACTN3 | c.1779C>G (p.Cys593Trp) c.1908C>G (p.Cys636Trp) | |
| 11 | g.66560674C>T | CA475494377 | ACTN3 | c.1779C>T (p.Cys593=) c.1908C>T (p.Cys636=) | |
| 11 | g.66560675C>A | CA6124849 | ACTN3 | c.1780C>A (p.Gln594Lys) c.1909C>A (p.Gln637Lys) | dbSNP ExAC |
| 11 | g.66560675C= | CA1979721559 | ACTN3 | c.1780C= (p.Gln594=) c.1909C= (p.Gln637=) | |
| 11 | g.66560675C>G | CA381447747 | ACTN3 | c.1780C>G (p.Gln594Glu) c.1909C>G (p.Gln637Glu) | |
| 11 | g.66560675C>T | CA381447753 | ACTN3 | c.1780C>T (p.Gln594Ter) c.1909C>T (p.Gln637Ter) | dbSNP gnomAD v4 |
| 11 | g.66560676A>C | CA381447756 | ACTN3 | c.1781A>C (p.Gln594Pro) c.1910A>C (p.Gln637Pro) | |
| 11 | g.66560676A>G | CA381447757 | ACTN3 | c.1781A>G (p.Gln594Arg) c.1910A>G (p.Gln637Arg) | gnomAD v4 |
| 11 | g.66560676A>T | CA381447758 | ACTN3 | c.1781A>T (p.Gln594Leu) c.1910A>T (p.Gln637Leu) | |
| 11 | g.66560677G>A | CA475494381 | ACTN3 | c.1782G>A (p.Gln594=) c.1911G>A (p.Gln637=) | COSMIC |
| 11 | g.66560677G>C | CA381447766 | ACTN3 | c.1782G>C (p.Gln594His) c.1911G>C (p.Gln637His) | |
| 11 | g.66560677G= | CA1979721560 | ACTN3 | c.1782G= (p.Gln594=) c.1911G= (p.Gln637=) | |
| 11 | g.66560677G>T | CA381447762 | ACTN3 | c.1782G>T (p.Gln594His) c.1911G>T (p.Gln637His) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560678A>C | CA381447769 | ACTN3 | c.1783A>C (p.Thr595Pro) c.1912A>C (p.Thr638Pro) | |
| 11 | g.66560678A>G | CA381447772 | ACTN3 | c.1783A>G (p.Thr595Ala) c.1912A>G (p.Thr638Ala) | |
| 11 | g.66560678A>T | CA381447774 | ACTN3 | c.1783A>T (p.Thr595Ser) c.1912A>T (p.Thr638Ser) | |
| 11 | g.66560679C>A | CA6124850 | ACTN3 | c.1784C>A (p.Thr595Lys) c.1913C>A (p.Thr638Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66560679C= | CA1979721563 | ACTN3 | c.1784C= (p.Thr595=) c.1913C= (p.Thr638=) | |
| 11 | g.66560679C>G | CA381447780 | ACTN3 | c.1784C>G (p.Thr595Arg) c.1913C>G (p.Thr638Arg) | |
| 11 | g.66560679C>T | CA6124851 | ACTN3 | c.1784C>T (p.Thr595Met) c.1913C>T (p.Thr638Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.66560679_66560680insATA | CA938984573 | ACTN3 | c.1784_1785insATA (p.Thr596Ter) c.1913_1914insATA (p.Thr639Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560680G>A | CA6124853 | ACTN3 | c.1785G>A (p.Thr595=) c.1914G>A (p.Thr638=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66560680G>C | CA6124852 | ACTN3 | c.1785G>C (p.Thr595=) c.1914G>C (p.Thr638=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66560680G= | CA1979721575 | ACTN3 | c.1785G= (p.Thr595=) c.1914G= (p.Thr638=) | |
| 11 | g.66560680G>T | CA6124854 | ACTN3 | c.1785G>T (p.Thr595=) c.1914G>T (p.Thr638=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66560681T>A | CA381447788 | ACTN3 | c.1786T>A (p.Tyr596Asn) c.1915T>A (p.Tyr639Asn) | |
| 11 | g.66560681T>C | CA6124855 | ACTN3 | c.1786T>C (p.Tyr596His) c.1915T>C (p.Tyr639His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66560681T>G | CA381447791 | ACTN3 | c.1786T>G (p.Tyr596Asp) c.1915T>G (p.Tyr639Asp) | |
| 11 | g.66560681T= | CA1979721580 | ACTN3 | c.1786T= (p.Tyr596=) c.1915T= (p.Tyr639=) | |
| 11 | g.66560682A>C | CA381447795 | ACTN3 | c.1787A>C (p.Tyr596Ser) c.1916A>C (p.Tyr639Ser) | |
| 11 | g.66560682A>G | CA381447798 | ACTN3 | c.1787A>G (p.Tyr596Cys) c.1916A>G (p.Tyr639Cys) | |
| 11 | g.66560682A>T | CA381447800 | ACTN3 | c.1787A>T (p.Tyr596Phe) c.1916A>T (p.Tyr639Phe) | |
| 11 | g.66560683T>A | CA381447804 | ACTN3 | c.1788T>A (p.Tyr596Ter) c.1917T>A (p.Tyr639Ter) | |
| 11 | g.66560683T>C | CA475494385 | ACTN3 | c.1788T>C (p.Tyr596=) c.1917T>C (p.Tyr639=) | gnomAD v4 |
| 11 | g.66560683T>G | CA381447806 | ACTN3 | c.1788T>G (p.Tyr596Ter) c.1917T>G (p.Tyr639Ter) | |
| 11 | g.66560684G>A | CA381447810 | ACTN3 | c.1789G>A (p.Gly597Arg) c.1918G>A (p.Gly640Arg) | |
| 11 | g.66560684G>C | CA381447813 | ACTN3 | c.1789G>C (p.Gly597Arg) c.1918G>C (p.Gly640Arg) | |
| 11 | g.66560684G>T | CA381447815 | ACTN3 | c.1789G>T (p.Gly597Trp) c.1918G>T (p.Gly640Trp) | |
| 11 | g.66560685G>A | CA381447823 | ACTN3 | c.1790G>A (p.Gly597Glu) c.1919G>A (p.Gly640Glu) | |
| 11 | g.66560685G>C | CA381447820 | ACTN3 | c.1790G>C (p.Gly597Ala) c.1919G>C (p.Gly640Ala) | |
| 11 | g.66560685G>T | CA381447819 | ACTN3 | c.1790G>T (p.Gly597Val) c.1919G>T (p.Gly640Val) | |
| 11 | g.66560686G>A | CA475494389 | ACTN3 | c.1791G>A (p.Gly597=) c.1920G>A (p.Gly640=) | |
| 11 | g.66560686G>C | CA475494390 | ACTN3 | c.1791G>C (p.Gly597=) c.1920G>C (p.Gly640=) | |
| 11 | g.66560686G>T | CA475494391 | ACTN3 | c.1791G>T (p.Gly597=) c.1920G>T (p.Gly640=) | |
| 11 | g.66560687C>A | CA381447825 | ACTN3 | c.1792C>A (p.Leu598Met) c.1921C>A (p.Leu641Met) | |
| 11 | g.66560687C>G | CA381447827 | ACTN3 | c.1792C>G (p.Leu598Val) c.1921C>G (p.Leu641Val) | |
| 11 | g.66560687C>T | CA475494392 | ACTN3 | c.1792C>T (p.Leu598=) c.1921C>T (p.Leu641=) | gnomAD v4 |
| 11 | g.66560688T>A | CA381447830 | ACTN3 | c.1793T>A (p.Leu598Gln) c.1922T>A (p.Leu641Gln) | |
| 11 | g.66560688T>C | CA381447831 | ACTN3 | c.1793T>C (p.Leu598Pro) c.1922T>C (p.Leu641Pro) | |
| 11 | g.66560688T>G | CA381447833 | ACTN3 | c.1793T>G (p.Leu598Arg) c.1922T>G (p.Leu641Arg) | |
| 11 | g.66560689G>A | CA475494395 | ACTN3 | c.1794G>A (p.Leu598=) c.1923G>A (p.Leu641=) | gnomAD v4 |
| 11 | g.66560689G>C | CA475494397 | ACTN3 | c.1794G>C (p.Leu598=) c.1923G>C (p.Leu641=) | |
| 11 | g.66560689G>T | CA475494398 | ACTN3 | c.1794G>T (p.Leu598=) c.1923G>T (p.Leu641=) | |
| 11 | g.66560690C>A | CA475494400 | ACTN3 | c.1795C>A (p.Arg599=) c.1924C>A (p.Arg642=) | dbSNP gnomAD v4 |
| 11 | g.66560690C= | CA1979721586 | ACTN3 | c.1795C= (p.Arg599=) c.1924C= (p.Arg642=) | |
| 11 | g.66560690C>G | CA381447836 | ACTN3 | c.1795C>G (p.Arg599Gly) c.1924C>G (p.Arg642Gly) | |
| 11 | g.66560690C>T | CA6124856 | ACTN3 | c.1795C>T (p.Arg599Trp) c.1924C>T (p.Arg642Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66560691G>A | CA6124857 | ACTN3 | c.1796G>A (p.Arg599Gln) c.1925G>A (p.Arg642Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66560691G>C | CA381447844 | ACTN3 | c.1796G>C (p.Arg599Pro) c.1925G>C (p.Arg642Pro) | |
| 11 | g.66560691G= | CA1979721592 | ACTN3 | c.1796G= (p.Arg599=) c.1925G= (p.Arg642=) | |
| 11 | g.66560691G>T | CA381447841 | ACTN3 | c.1796G>T (p.Arg599Leu) c.1925G>T (p.Arg642Leu) | |
| 11 | g.66560692G>A | CA475494404 | ACTN3 | c.1797G>A (p.Arg599=) c.1926G>A (p.Arg642=) | |
| 11 | g.66560692G>C | CA475494405 | ACTN3 | c.1797G>C (p.Arg599=) c.1926G>C (p.Arg642=) | |
| 11 | g.66560692G>T | CA475494406 | ACTN3 | c.1797G>T (p.Arg599=) c.1926G>T (p.Arg642=) | |
| 11 | g.66560693C>A | CA381447854 | ACTN3 | c.1798C>A (p.Pro600Thr) c.1927C>A (p.Pro643Thr) | |
| 11 | g.66560693C>G | CA381447856 | ACTN3 | c.1798C>G (p.Pro600Ala) c.1927C>G (p.Pro643Ala) | |
| 11 | g.66560693C>T | CA381447859 | ACTN3 | c.1798C>T (p.Pro600Ser) c.1927C>T (p.Pro643Ser) | |
| 11 | g.66560694C>A | CA381447861 | ACTN3 | c.1799C>A (p.Pro600His) c.1928C>A (p.Pro643His) | COSMIC |
| 11 | g.66560694C>G | CA381447862 | ACTN3 | c.1799C>G (p.Pro600Arg) c.1928C>G (p.Pro643Arg) | |
| 11 | g.66560694C>T | CA381447866 | ACTN3 | c.1799C>T (p.Pro600Leu) c.1928C>T (p.Pro643Leu) | |
| 11 | g.66560695C>A | CA475494409 | ACTN3 | c.1800C>A (p.Pro600=) c.1929C>A (p.Pro643=) | gnomAD v4 |
| 11 | g.66560695C>G | CA475494410 | ACTN3 | c.1800C>G (p.Pro600=) c.1929C>G (p.Pro643=) | |
| 11 | g.66560695C>T | CA475494411 | ACTN3 | c.1800C>T (p.Pro600=) c.1929C>T (p.Pro643=) | |
| 11 | g.66560696T>A | CA381447869 | ACTN3 | c.1801T>A (p.Cys601Ser) c.1930T>A (p.Cys644Ser) | |
| 11 | g.66560696T>C | CA381447874 | ACTN3 | c.1801T>C (p.Cys601Arg) c.1930T>C (p.Cys644Arg) | |
| 11 | g.66560696T>G | CA381447871 | ACTN3 | c.1801T>G (p.Cys601Gly) c.1930T>G (p.Cys644Gly) | |
| 11 | g.66560697G>A | CA381447876 | ACTN3 | c.1802G>A (p.Cys601Tyr) c.1931G>A (p.Cys644Tyr) | |
| 11 | g.66560697G>C | CA381447878 | ACTN3 | c.1802G>C (p.Cys601Ser) c.1931G>C (p.Cys644Ser) | |
| 11 | g.66560697G>T | CA381447879 | ACTN3 | c.1802G>T (p.Cys601Phe) c.1931G>T (p.Cys644Phe) | |
| 11 | g.66560698C>A | CA381447880 | ACTN3 | c.1803C>A (p.Cys601Ter) c.1932C>A (p.Cys644Ter) | |
| 11 | g.66560698C>G | CA381447882 | ACTN3 | c.1803C>G (p.Cys601Trp) c.1932C>G (p.Cys644Trp) | |
| 11 | g.66560698C>T | CA475494415 | ACTN3 | c.1803C>T (p.Cys601=) c.1932C>T (p.Cys644=) | |
| 11 | g.66560699T>A | CA381447884 | ACTN3 | c.1804T>A (p.Ser602Thr) c.1933T>A (p.Ser645Thr) | |
| 11 | g.66560699T>C | CA381447885 | ACTN3 | c.1804T>C (p.Ser602Pro) c.1933T>C (p.Ser645Pro) | gnomAD v4 |
| 11 | g.66560699T>G | CA381447887 | ACTN3 | c.1804T>G (p.Ser602Ala) c.1933T>G (p.Ser645Ala) | |
| 11 | g.66560700C>A | CA381447890 | ACTN3 | c.1805C>A (p.Ser602Tyr) c.1934C>A (p.Ser645Tyr) | |
| 11 | g.66560700C>G | CA381447892 | ACTN3 | c.1805C>G (p.Ser602Cys) c.1934C>G (p.Ser645Cys) | |
| 11 | g.66560700C>T | CA381447894 | ACTN3 | c.1805C>T (p.Ser602Phe) c.1934C>T (p.Ser645Phe) | |
| 11 | g.66560701del | CA2614514379 | ACTN3 | c.1806del (p.Thr603ProfsTer?) c.1935del (p.Thr646ProfsTer?) | gnomAD v4 |
| 11 | g.66560701C>A | CA475494417 | ACTN3 | c.1806C>A (p.Ser602=) c.1935C>A (p.Ser645=) | |
| 11 | g.66560701C= | CA1979721598 | ACTN3 | c.1806C= (p.Ser602=) c.1935C= (p.Ser645=) | |
| 11 | g.66560701C>G | CA475494418 | ACTN3 | c.1806C>G (p.Ser602=) c.1935C>G (p.Ser645=) | |
| 11 | g.66560701C>T | CA475494419 | ACTN3 | c.1806C>T (p.Ser602=) c.1935C>T (p.Ser645=) | dbSNP |
| 11 | g.66560702A= | CA1979721607 | ACTN3 | c.1807A= (p.Thr603=) c.1936A= (p.Thr646=) | |
| 11 | g.66560702A>C | CA381447900 | ACTN3 | c.1807A>C (p.Thr603Pro) c.1936A>C (p.Thr646Pro) | dbSNP |
| 11 | g.66560702A>G | CA381447898 | ACTN3 | c.1807A>G (p.Thr603Ala) c.1936A>G (p.Thr646Ala) | |
| 11 | g.66560702A>T | CA381447896 | ACTN3 | c.1807A>T (p.Thr603Ser) c.1936A>T (p.Thr646Ser) | |
| 11 | g.66560703C>A | CA381447903 | ACTN3 | c.1808C>A (p.Thr603Asn) c.1937C>A (p.Thr646Asn) | |
| 11 | g.66560703C>G | CA381447904 | ACTN3 | c.1808C>G (p.Thr603Ser) c.1937C>G (p.Thr646Ser) | |
| 11 | g.66560703C>T | CA381447905 | ACTN3 | c.1808C>T (p.Thr603Ile) c.1937C>T (p.Thr646Ile) | |
| 11 | g.66560704C>A | CA475494422 | ACTN3 | c.1809C>A (p.Thr603=) c.1938C>A (p.Thr646=) | |
| 11 | g.66560704C>G | CA475494423 | ACTN3 | c.1809C>G (p.Thr603=) c.1938C>G (p.Thr646=) | |
| 11 | g.66560704C>T | CA475494424 | ACTN3 | c.1809C>T (p.Thr603=) c.1938C>T (p.Thr646=) | |
| 11 | g.66560705A>C | CA381447908 | ACTN3 | c.1810A>C (p.Asn604His) c.1939A>C (p.Asn647His) | |
| 11 | g.66560705A>G | CA381447909 | ACTN3 | c.1810A>G (p.Asn604Asp) c.1939A>G (p.Asn647Asp) | gnomAD v4 |
| 11 | g.66560705A>T | CA381447911 | ACTN3 | c.1810A>T (p.Asn604Tyr) c.1939A>T (p.Asn647Tyr) | |
| 11 | g.66560706A>C | CA381447918 | ACTN3 | c.1811A>C (p.Asn604Thr) c.1940A>C (p.Asn647Thr) | |
| 11 | g.66560706A>G | CA381447914 | ACTN3 | c.1811A>G (p.Asn604Ser) c.1940A>G (p.Asn647Ser) | |
| 11 | g.66560706A>T | CA381447916 | ACTN3 | c.1811A>T (p.Asn604Ile) c.1940A>T (p.Asn647Ile) | |
| 11 | g.66560707T>A | CA381447919 | ACTN3 | c.1812T>A (p.Asn604Lys) c.1941T>A (p.Asn647Lys) | |
| 11 | g.66560707T>C | CA475494428 | ACTN3 | c.1812T>C (p.Asn604=) c.1941T>C (p.Asn647=) | gnomAD v4 |
| 11 | g.66560707T>G | CA381447920 | ACTN3 | c.1812T>G (p.Asn604Lys) c.1941T>G (p.Asn647Lys) | |
| 11 | g.66560708C>A | CA381447921 | ACTN3 | c.1813C>A (p.Pro605Thr) c.1942C>A (p.Pro648Thr) | |
| 11 | g.66560708C>G | CA381447922 | ACTN3 | c.1813C>G (p.Pro605Ala) c.1942C>G (p.Pro648Ala) | |
| 11 | g.66560708C>T | CA381447923 | ACTN3 | c.1813C>T (p.Pro605Ser) c.1942C>T (p.Pro648Ser) | |
| 11 | g.66560709C>A | CA381447925 | ACTN3 | c.1814C>A (p.Pro605His) c.1943C>A (p.Pro648His) | |
| 11 | g.66560709C= | CA1979721613 | ACTN3 | c.1814C= (p.Pro605=) c.1943C= (p.Pro648=) | |
| 11 | g.66560709C>G | CA6124858 | ACTN3 | c.1814C>G (p.Pro605Arg) c.1943C>G (p.Pro648Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66560709C>T | CA381447926 | ACTN3 | c.1814C>T (p.Pro605Leu) c.1943C>T (p.Pro648Leu) | |
| 11 | g.66560710C>A | CA475494432 | ACTN3 | c.1815C>A (p.Pro605=) c.1944C>A (p.Pro648=) | |
| 11 | g.66560710C>G | CA475494434 | ACTN3 | c.1815C>G (p.Pro605=) c.1944C>G (p.Pro648=) | |
| 11 | g.66560710C>T | CA475494433 | ACTN3 | c.1815C>T (p.Pro605=) c.1944C>T (p.Pro648=) | gnomAD v4 |
| 11 | g.66560711T>A | CA381447930 | ACTN3 | c.1816T>A (p.Tyr606Asn) c.1945T>A (p.Tyr649Asn) | |
| 11 | g.66560711T>C | CA381447932 | ACTN3 | c.1816T>C (p.Tyr606His) c.1945T>C (p.Tyr649His) | |
| 11 | g.66560711T>G | CA381447934 | ACTN3 | c.1816T>G (p.Tyr606Asp) c.1945T>G (p.Tyr649Asp) | |
| 11 | g.66560712A>C | CA381447936 | ACTN3 | c.1817A>C (p.Tyr606Ser) c.1946A>C (p.Tyr649Ser) | |
| 11 | g.66560712A>G | CA381447938 | ACTN3 | c.1817A>G (p.Tyr606Cys) c.1946A>G (p.Tyr649Cys) | |
| 11 | g.66560712A>T | CA381447940 | ACTN3 | c.1817A>T (p.Tyr606Phe) c.1946A>T (p.Tyr649Phe) | |
| 11 | g.66560714_66560718dup | CA2598282066 | ACTN3 | c.1819_1823dup (p.Leu609SerfsTer?) c.1948_1952dup (p.Leu652SerfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560712_66560713insACACACC | CA2792479681 | ACTN3 | c.1817_1818insACACACC (p.Tyr606Ter) c.1946_1947insACACACC (p.Tyr649Ter) | |
| 11 | g.66560713del | CA2551857576 | ACTN3 | c.1818del (p.Tyr606Ter) c.1947del (p.Tyr649Ter) | |
| 11 | g.66560713C>A | CA381447942 | ACTN3 | c.1818C>A (p.Tyr606Ter) c.1947C>A (p.Tyr649Ter) | |
| 11 | g.66560713C>G | CA381447944 | ACTN3 | c.1818C>G (p.Tyr606Ter) c.1947C>G (p.Tyr649Ter) | gnomAD v4 |
| 11 | g.66560713C>T | CA475494437 | ACTN3 | c.1818C>T (p.Tyr606=) c.1947C>T (p.Tyr649=) | gnomAD v4 |
| 11 | g.66560714A>C | CA381447947 | ACTN3 | c.1819A>C (p.Ile607Leu) c.1948A>C (p.Ile650Leu) | |
| 11 | g.66560714A>G | CA381447948 | ACTN3 | c.1819A>G (p.Ile607Val) c.1948A>G (p.Ile650Val) | |
| 11 | g.66560714A>T | CA381447950 | ACTN3 | c.1819A>T (p.Ile607Phe) c.1948A>T (p.Ile650Phe) | |
| 11 | g.66560715T>A | CA381447955 | ACTN3 | c.1820T>A (p.Ile607Asn) c.1949T>A (p.Ile650Asn) | |
| 11 | g.66560715T>C | CA381447952 | ACTN3 | c.1820T>C (p.Ile607Thr) c.1949T>C (p.Ile650Thr) | |
| 11 | g.66560715T>G | CA381447954 | ACTN3 | c.1820T>G (p.Ile607Ser) c.1949T>G (p.Ile650Ser) | |
| 11 | g.66560716C>A | CA475494441 | ACTN3 | c.1821C>A (p.Ile607=) c.1950C>A (p.Ile650=) | dbSNP |
| 11 | g.66560716C= | CA1979721622 | ACTN3 | c.1821C= (p.Ile607=) c.1950C= (p.Ile650=) | |
| 11 | g.66560716C>G | CA224075990 | ACTN3 | c.1821C>G (p.Ile607Met) c.1950C>G (p.Ile650Met) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560716C>T | CA475494443 | ACTN3 | c.1821C>T (p.Ile607=) c.1950C>T (p.Ile650=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66560717A>C | CA381447960 | ACTN3 | c.1822A>C (p.Thr608Pro) c.1951A>C (p.Thr651Pro) | |
| 11 | g.66560717A>G | CA381447959 | ACTN3 | c.1822A>G (p.Thr608Ala) c.1951A>G (p.Thr651Ala) | |
| 11 | g.66560717A>T | CA381447962 | ACTN3 | c.1822A>T (p.Thr608Ser) c.1951A>T (p.Thr651Ser) | |
| 11 | g.66560718C>A | CA381447965 | ACTN3 | c.1823C>A (p.Thr608Asn) c.1952C>A (p.Thr651Asn) | |
| 11 | g.66560718C>G | CA381447968 | ACTN3 | c.1823C>G (p.Thr608Ser) c.1952C>G (p.Thr651Ser) | |
| 11 | g.66560718C>T | CA381447966 | ACTN3 | c.1823C>T (p.Thr608Ile) c.1952C>T (p.Thr651Ile) | |
| 11 | g.66560719C>A | CA475494445 | ACTN3 | c.1824C>A (p.Thr608=) c.1953C>A (p.Thr651=) | gnomAD v4 |
| 11 | g.66560719C= | CA1979721633 | ACTN3 | c.1824C= (p.Thr608=) c.1953C= (p.Thr651=) | |
| 11 | g.66560719C>G | CA475494446 | ACTN3 | c.1824C>G (p.Thr608=) c.1953C>G (p.Thr651=) | |
| 11 | g.66560719C>T | CA475494447 | ACTN3 | c.1824C>T (p.Thr608=) c.1953C>T (p.Thr651=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66560720C>A | CA381447970 | ACTN3 | c.1825C>A (p.Leu609Ile) c.1954C>A (p.Leu652Ile) | gnomAD v4 |
| 11 | g.66560720C>G | CA381447972 | ACTN3 | c.1825C>G (p.Leu609Val) c.1954C>G (p.Leu652Val) | |
| 11 | g.66560720C>T | CA381447974 | ACTN3 | c.1825C>T (p.Leu609Phe) c.1954C>T (p.Leu652Phe) | gnomAD v4 COSMIC |
| 11 | g.66560721T>A | CA381447976 | ACTN3 | c.1826T>A (p.Leu609His) c.1955T>A (p.Leu652His) | |
| 11 | g.66560721T>C | CA381447977 | ACTN3 | c.1826T>C (p.Leu609Pro) c.1955T>C (p.Leu652Pro) | |
| 11 | g.66560721T>G | CA381447979 | ACTN3 | c.1826T>G (p.Leu609Arg) c.1955T>G (p.Leu652Arg) | |
| 11 | g.66560722C>A | CA475494449 | ACTN3 | c.1827C>A (p.Leu609=) c.1956C>A (p.Leu652=) | gnomAD v4 |
| 11 | g.66560722C>G | CA475494450 | ACTN3 | c.1827C>G (p.Leu609=) c.1956C>G (p.Leu652=) | |
| 11 | g.66560722C>T | CA475494451 | ACTN3 | c.1827C>T (p.Leu609=) c.1956C>T (p.Leu652=) | gnomAD v4 |
| 11 | g.66560723A= | CA1979721641 | ACTN3 | c.1828A= (p.Ser610=) c.1957A= (p.Ser653=) | |
| 11 | g.66560723A>C | CA381447981 | ACTN3 | c.1828A>C (p.Ser610Arg) c.1957A>C (p.Ser653Arg) | |
| 11 | g.66560723A>G | CA381447983 | ACTN3 | c.1828A>G (p.Ser610Gly) c.1957A>G (p.Ser653Gly) | |
| 11 | g.66560723A>T | CA381447985 | ACTN3 | c.1828A>T (p.Ser610Cys) c.1957A>T (p.Ser653Cys) | dbSNP gnomAD v2 |
| 11 | g.66560724G>A | CA381447987 | ACTN3 | c.1829G>A (p.Ser610Asn) c.1958G>A (p.Ser653Asn) | gnomAD v4 |
| 11 | g.66560724G>C | CA381447989 | ACTN3 | c.1829G>C (p.Ser610Thr) c.1958G>C (p.Ser653Thr) | |
| 11 | g.66560724G>T | CA381447991 | ACTN3 | c.1829G>T (p.Ser610Ile) c.1958G>T (p.Ser653Ile) | |
| 11 | g.66560725C>A | CA381447993 | ACTN3 | c.1830C>A (p.Ser610Arg) c.1959C>A (p.Ser653Arg) | |
| 11 | g.66560725C>G | CA381447994 | ACTN3 | c.1830C>G (p.Ser610Arg) c.1959C>G (p.Ser653Arg) | |
| 11 | g.66560725C>T | CA475494453 | ACTN3 | c.1830C>T (p.Ser610=) c.1959C>T (p.Ser653=) | |
| 11 | g.66560726C>A | CA381447996 | ACTN3 | c.1831C>A (p.Pro611Thr) c.1960C>A (p.Pro654Thr) | |
| 11 | g.66560726C>G | CA381447997 | ACTN3 | c.1831C>G (p.Pro611Ala) c.1960C>G (p.Pro654Ala) | |
| 11 | g.66560726C>T | CA381447999 | ACTN3 | c.1831C>T (p.Pro611Ser) c.1960C>T (p.Pro654Ser) | |
| 11 | g.66560727C>A | CA381448001 | ACTN3 | c.1832C>A (p.Pro611Gln) c.1961C>A (p.Pro654Gln) | |
| 11 | g.66560727C= | CA1979721646 | ACTN3 | c.1832C= (p.Pro611=) c.1961C= (p.Pro654=) | |
| 11 | g.66560727C>G | CA381448002 | ACTN3 | c.1832C>G (p.Pro611Arg) c.1961C>G (p.Pro654Arg) | gnomAD v4 |
| 11 | g.66560727C>T | CA6124859 | ACTN3 | c.1832C>T (p.Pro611Leu) c.1961C>T (p.Pro654Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.66560728G>A | CA6124860 | ACTN3 | c.1833G>A (p.Pro611=) c.1962G>A (p.Pro654=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66560728G>C | CA475494458 | ACTN3 | c.1833G>C (p.Pro611=) c.1962G>C (p.Pro654=) | |
| 11 | g.66560728G= | CA1979721650 | ACTN3 | c.1833G= (p.Pro611=) c.1962G= (p.Pro654=) | |
| 11 | g.66560728G>T | CA475494456 | ACTN3 | c.1833G>T (p.Pro611=) c.1962G>T (p.Pro654=) | |
| 11 | g.66560729C>A | CA381448007 | ACTN3 | c.1834C>A (p.Gln612Lys) c.1963C>A (p.Gln655Lys) | |
| 11 | g.66560729C>G | CA381448009 | ACTN3 | c.1834C>G (p.Gln612Glu) c.1963C>G (p.Gln655Glu) | gnomAD v4 |
| 11 | g.66560729C>T | CA381448011 | ACTN3 | c.1834C>T (p.Gln612Ter) c.1963C>T (p.Gln655Ter) | gnomAD v4 |
| 11 | g.66560730A>C | CA381448012 | ACTN3 | c.1835A>C (p.Gln612Pro) c.1964A>C (p.Gln655Pro) | |
| 11 | g.66560730A>G | CA381448014 | ACTN3 | c.1835A>G (p.Gln612Arg) c.1964A>G (p.Gln655Arg) | |
| 11 | g.66560730A>T | CA381448015 | ACTN3 | c.1835A>T (p.Gln612Leu) c.1964A>T (p.Gln655Leu) | |
| 11 | g.66560731G>A | CA224075996 | ACTN3 | c.1836G>A (p.Gln612=) c.1965G>A (p.Gln655=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560731G>C | CA381448020 | ACTN3 | c.1836G>C (p.Gln612His) c.1965G>C (p.Gln655His) | |
| 11 | g.66560731G= | CA1979721656 | ACTN3 | c.1836G= (p.Gln612=) c.1965G= (p.Gln655=) | |
| 11 | g.66560731G>T | CA381448018 | ACTN3 | c.1836G>T (p.Gln612His) c.1965G>T (p.Gln655His) | |
| 11 | g.66560732G>A | CA381448023 | ACTN3 | c.1837G>A (p.Asp613Asn) c.1966G>A (p.Asp656Asn) | |
| 11 | g.66560732G>C | CA381448024 | ACTN3 | c.1837G>C (p.Asp613His) c.1966G>C (p.Asp656His) | |
| 11 | g.66560732G>T | CA381448026 | ACTN3 | c.1837G>T (p.Asp613Tyr) c.1966G>T (p.Asp656Tyr) | |
| 11 | g.66560733A>C | CA381448029 | ACTN3 | c.1838A>C (p.Asp613Ala) c.1967A>C (p.Asp656Ala) | |
| 11 | g.66560733A>G | CA381448030 | ACTN3 | c.1838A>G (p.Asp613Gly) c.1967A>G (p.Asp656Gly) | |
| 11 | g.66560733A>T | CA381448032 | ACTN3 | c.1838A>T (p.Asp613Val) c.1967A>T (p.Asp656Val) | |
| 11 | g.66560734C>A | CA381448034 | ACTN3 | c.1839C>A (p.Asp613Glu) c.1968C>A (p.Asp656Glu) | |
| 11 | g.66560734C= | CA1979721681 | ACTN3 | c.1839C= (p.Asp613=) c.1968C= (p.Asp656=) | |
| 11 | g.66560734C>G | CA381448036 | ACTN3 | c.1839C>G (p.Asp613Glu) c.1968C>G (p.Asp656Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66560734C>T | CA475494468 | ACTN3 | c.1839C>T (p.Asp613=) c.1968C>T (p.Asp656=) | |
| 11 | g.66560735A>C | CA381448039 | ACTN3 | c.1840A>C (p.Ile614Leu) c.1969A>C (p.Ile657Leu) | |
| 11 | g.66560735A>G | CA381448041 | ACTN3 | c.1840A>G (p.Ile614Val) c.1969A>G (p.Ile657Val) | |
| 11 | g.66560735A>T | CA381448043 | ACTN3 | c.1840A>T (p.Ile614Phe) c.1969A>T (p.Ile657Phe) | |
| 11 | g.66560736T>A | CA381448049 | ACTN3 | c.1841T>A (p.Ile614Asn) c.1970T>A (p.Ile657Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66560736T>C | CA381448047 | ACTN3 | c.1841T>C (p.Ile614Thr) c.1970T>C (p.Ile657Thr) | |
| 11 | g.66560736T>G | CA381448045 | ACTN3 | c.1841T>G (p.Ile614Ser) c.1970T>G (p.Ile657Ser) | |
| 11 | g.66560736T= | CA1979721690 | ACTN3 | c.1841T= (p.Ile614=) c.1970T= (p.Ile657=) | |
| 11 | g.66560736_66560742delinsTCAACAC | CA1979721688 | ACTN3 | c.1841_1847delinsTCAACAC (p.Ile614=) c.1970_1976delinsTCAACAC (p.Ile657=) | |
| 11 | g.66560737C>A | CA475494472 | ACTN3 | c.1842C>A (p.Ile614=) c.1971C>A (p.Ile657=) | |
| 11 | g.66560737C>G | CA381448051 | ACTN3 | c.1842C>G (p.Ile614Met) c.1971C>G (p.Ile657Met) | |
| 11 | g.66560737C>T | CA475494477 | ACTN3 | c.1842C>T (p.Ile614=) c.1971C>T (p.Ile657=) | |
| 11 | g.66560740_66560745del | CA600232699 | ACTN3 | c.1845_1850del (p.Asn615_Thr616del) c.1974_1979del (p.Asn658_Thr659del) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66560738A= | CA1979721700 | ACTN3 | c.1843A= (p.Asn615=) c.1972A= (p.Asn658=) | |
| 11 | g.66560738A>C | CA381448053 | ACTN3 | c.1843A>C (p.Asn615His) c.1972A>C (p.Asn658His) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560738A>G | CA381448055 | ACTN3 | c.1843A>G (p.Asn615Asp) c.1972A>G (p.Asn658Asp) | |
| 11 | g.66560738A>T | CA381448057 | ACTN3 | c.1843A>T (p.Asn615Tyr) c.1972A>T (p.Asn658Tyr) | |
| 11 | g.66560739A= | CA1979721709 | ACTN3 | c.1844A= (p.Asn615=) c.1973A= (p.Asn658=) | |
| 11 | g.66560739A>C | CA381448059 | ACTN3 | c.1844A>C (p.Asn615Thr) c.1973A>C (p.Asn658Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66560739A>G | CA381448061 | ACTN3 | c.1844A>G (p.Asn615Ser) c.1973A>G (p.Asn658Ser) | dbSNP gnomAD v4 COSMIC |
| 11 | g.66560739A>T | CA381448062 | ACTN3 | c.1844A>T (p.Asn615Ile) c.1973A>T (p.Asn658Ile) | |
| 11 | g.66560740C>A | CA381448064 | ACTN3 | c.1845C>A (p.Asn615Lys) c.1974C>A (p.Asn658Lys) | |
| 11 | g.66560740C= | CA1979721717 | ACTN3 | c.1845C= (p.Asn615=) c.1974C= (p.Asn658=) | |
| 11 | g.66560740C>G | CA381448067 | ACTN3 | c.1845C>G (p.Asn615Lys) c.1974C>G (p.Asn658Lys) | |
| 11 | g.66560740C>T | CA475494484 | ACTN3 | c.1845C>T (p.Asn615=) c.1974C>T (p.Asn658=) | dbSNP gnomAD v4 COSMIC |
| 11 | g.66560741A= | CA1979721757 | ACTN3 | c.1846A= (p.Thr616=) c.1975A= (p.Thr659=) | |
| 11 | g.66560741A>C | CA381448068 | ACTN3 | c.1846A>C (p.Thr616Pro) c.1975A>C (p.Thr659Pro) | |
| 11 | g.66560741A>G | CA381448070 | ACTN3 | c.1846A>G (p.Thr616Ala) c.1975A>G (p.Thr659Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66560741A>T | CA381448072 | ACTN3 | c.1846A>T (p.Thr616Ser) c.1975A>T (p.Thr659Ser) | |
| 11 | g.66560741_66560742delinsAC | CA1979721755 | ACTN3 | c.1846_1847delinsAC (p.Thr616=) c.1975_1976delinsAC (p.Thr659=) | |
| 11 | g.66560742C>A | CA381448077 | ACTN3 | c.1847C>A (p.Thr616Asn) c.1976C>A (p.Thr659Asn) | |
| 11 | g.66560742C>G | CA381448075 | ACTN3 | c.1847C>G (p.Thr616Ser) c.1976C>G (p.Thr659Ser) | |
| 11 | g.66560742C>T | CA381448078 | ACTN3 | c.1847C>T (p.Thr616Ile) c.1976C>T (p.Thr659Ile) | |
| 11 | g.66560743del | CA6124861 | ACTN3 | c.1848del (p.Lys617SerfsTer25) c.1977del (p.Lys660SerfsTer25) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66560743C>A | CA475494492 | ACTN3 | c.1848C>A (p.Thr616=) c.1977C>A (p.Thr659=) | gnomAD v4 |
| 11 | g.66560743C>G | CA475494493 | ACTN3 | c.1848C>G (p.Thr616=) c.1977C>G (p.Thr659=) | |
| 11 | g.66560743C>T | CA475494490 | ACTN3 | c.1848C>T (p.Thr616=) c.1977C>T (p.Thr659=) | gnomAD v4 |
| 11 | g.66560744A= | CA1979721780 | ACTN3 | c.1849A= (p.Lys617=) c.1978A= (p.Lys660=) | |
| 11 | g.66560744A>C | CA381448081 | ACTN3 | c.1849A>C (p.Lys617Gln) c.1978A>C (p.Lys660Gln) | COSMIC |
| 11 | g.66560744A>G | CA381448083 | ACTN3 | c.1849A>G (p.Lys617Glu) c.1978A>G (p.Lys660Glu) | gnomAD v4 |
| 11 | g.66560744A>T | CA381448085 | ACTN3 | c.1849A>T (p.Lys617Ter) c.1978A>T (p.Lys660Ter) | dbSNP |
| 11 | g.66560745A>C | CA381448087 | ACTN3 | c.1850A>C (p.Lys617Thr) c.1979A>C (p.Lys660Thr) | |
| 11 | g.66560745A>G | CA381448089 | ACTN3 | c.1850A>G (p.Lys617Arg) c.1979A>G (p.Lys660Arg) | |
| 11 | g.66560745A>T | CA381448090 | ACTN3 | c.1850A>T (p.Lys617Met) c.1979A>T (p.Lys660Met) | |
| 11 | g.66560745_66560746insACACACCCAACACA | CA2792479687 | ACTN3 | c.1850_1851insACACACCCAACACA (p.Trp618HisfsTer29) c.1979_1980insACACACCCAACACA (p.Trp661HisfsTer29) | |
| 11 | g.66560746G>A | CA475370271 | ACTN3 | c.1851G>A (p.Lys617=) c.1980G>A (p.Lys660=) | |
| 11 | g.66560746G>C | CA381448868 | ACTN3 | c.1851G>C (p.Lys617Asn) c.1980G>C (p.Lys660Asn) | |
| 11 | g.66560746G>T | CA381448865 | ACTN3 | c.1851G>T (p.Lys617Asn) c.1980G>T (p.Lys660Asn) | |
| 11 | g.66560747T>A | CA381448871 | ACTN3 | c.1852T>A (p.Trp618Arg) c.1981T>A (p.Trp661Arg) | |
| 11 | g.66560747T>C | CA381448876 | ACTN3 | c.1852T>C (p.Trp618Arg) c.1981T>C (p.Trp661Arg) | |
| 11 | g.66560747T>G | CA381448878 | ACTN3 | c.1852T>G (p.Trp618Gly) c.1981T>G (p.Trp661Gly) | |
| 11 | g.66560748G>A | CA381448881 | ACTN3 | c.1853G>A (p.Trp618Ter) c.1982G>A (p.Trp661Ter) | COSMIC |
| 11 | g.66560748G>C | CA381448883 | ACTN3 | c.1853G>C (p.Trp618Ser) c.1982G>C (p.Trp661Ser) | |
| 11 | g.66560748G>T | CA381448887 | ACTN3 | c.1853G>T (p.Trp618Leu) c.1982G>T (p.Trp661Leu) | |
| 11 | g.66560749G>A | CA381448891 | ACTN3 | c.1854G>A (p.Trp618Ter) c.1983G>A (p.Trp661Ter) | |
| 11 | g.66560749G>C | CA381448896 | ACTN3 | c.1854G>C (p.Trp618Cys) c.1983G>C (p.Trp661Cys) | |
| 11 | g.66560749G>T | CA381448894 | ACTN3 | c.1854G>T (p.Trp618Cys) c.1983G>T (p.Trp661Cys) | |
| 11 | g.66560750G>A | CA6124862 | ACTN3 | c.1855G>A (p.Asp619Asn) c.1984G>A (p.Asp662Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66560750G>C | CA381448901 | ACTN3 | c.1855G>C (p.Asp619His) c.1984G>C (p.Asp662His) | |
| 11 | g.66560750G= | CA1979721785 | ACTN3 | c.1855G= (p.Asp619=) c.1984G= (p.Asp662=) | |
| 11 | g.66560750G>T | CA381448904 | ACTN3 | c.1855G>T (p.Asp619Tyr) c.1984G>T (p.Asp662Tyr) | |
| 11 | g.66560750_66560751insGGGGCAC | CA6124863 | ACTN3 | c.1855_1856insGGGGCAC (p.Asp619GlyfsTer13) c.1984_1985insGGGGCAC (p.Asp662GlyfsTer13) | dbSNP ExAC |
| 11 | g.66560751A= | CA1979721798 | ACTN3 | c.1856A= (p.Asp619=) c.1985A= (p.Asp662=) | |
| 11 | g.66560751A>C | CA381448909 | ACTN3 | c.1856A>C (p.Asp619Ala) c.1985A>C (p.Asp662Ala) | |
| 11 | g.66560751A>G | CA6124864 | ACTN3 | c.1856A>G (p.Asp619Gly) c.1985A>G (p.Asp662Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66560751A>T | CA381448911 | ACTN3 | c.1856A>T (p.Asp619Val) c.1985A>T (p.Asp662Val) | |
| 11 | g.66560752T>A | CA381448913 | ACTN3 | c.1857T>A (p.Asp619Glu) c.1986T>A (p.Asp662Glu) | |
| 11 | g.66560752T>C | CA475370278 | ACTN3 | c.1857T>C (p.Asp619=) c.1986T>C (p.Asp662=) | |
| 11 | g.66560752T>G | CA381448915 | ACTN3 | c.1857T>G (p.Asp619Glu) c.1986T>G (p.Asp662Glu) | |
| 11 | g.66560753A= | CA1979721802 | ACTN3 | c.1858A= (p.Met620=) c.1987A= (p.Met663=) | |
| 11 | g.66560753A>C | CA381448919 | ACTN3 | c.1858A>C (p.Met620Leu) c.1987A>C (p.Met663Leu) | |
| 11 | g.66560753A>G | CA381448922 | ACTN3 | c.1858A>G (p.Met620Val) c.1987A>G (p.Met663Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66560753A>T | CA381448925 | ACTN3 | c.1858A>T (p.Met620Leu) c.1987A>T (p.Met663Leu) | |
| 11 | g.66560754T>A | CA381448929 | ACTN3 | c.1859T>A (p.Met620Lys) c.1988T>A (p.Met663Lys) | |
| 11 | g.66560754T>C | CA224076025 | ACTN3 | c.1859T>C (p.Met620Thr) c.1988T>C (p.Met663Thr) | dbSNP |
| 11 | g.66560754T>G | CA381448931 | ACTN3 | c.1859T>G (p.Met620Arg) c.1988T>G (p.Met663Arg) | |
| 11 | g.66560754T= | CA1979721809 | ACTN3 | c.1859T= (p.Met620=) c.1988T= (p.Met663=) | |
| 11 | g.66560755G>A | CA381448936 | ACTN3 | c.1860G>A (p.Met620Ile) c.1989G>A (p.Met663Ile) | |
| 11 | g.66560755G>C | CA381448937 | ACTN3 | c.1860G>C (p.Met620Ile) c.1989G>C (p.Met663Ile) | |
| 11 | g.66560755G>T | CA381448940 | ACTN3 | c.1860G>T (p.Met620Ile) c.1989G>T (p.Met663Ile) | |
| 11 | g.66560756G>A | CA381448943 | ACTN3 | c.1860+1G>A (n.1860+1G>A) c.1989+1G>A (n.1989+1G>A) | |
| 11 | g.66560756G>C | CA381448944 | ACTN3 | c.1860+1G>C (n.1860+1G>C) c.1989+1G>C (n.1989+1G>C) | |
| 11 | g.66560756G>T | CA381448945 | ACTN3 | c.1860+1G>T (n.1860+1G>T) c.1989+1G>T (n.1989+1G>T) | |
| 11 | g.66560757T>A | CA381448946 | ACTN3 | c.1860+2T>A (n.1860+2T>A) c.1989+2T>A (n.1989+2T>A) | |
| 11 | g.66560757T>C | CA6124865 | ACTN3 | c.1860+2T>C (n.1860+2T>C) c.1989+2T>C (n.1989+2T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66560757T>G | CA381448947 | ACTN3 | c.1860+2T>G (n.1860+2T>G) c.1989+2T>G (n.1989+2T>G) | |
| 11 | g.66560757T= | CA1979721819 | ACTN3 | c.1860+2T= (n.1860+2T=) c.1989+2T= (n.1989+2T=) | |
| 11 | g.66560758C>A | CA2614514446 | ACTN3 | c.1860+3C>A (n.1860+3C>A) c.1989+3C>A (n.1989+3C>A) | gnomAD v4 |
| 11 | g.66560758C= | CA1979721829 | ACTN3 | c.1860+3C= (n.1860+3C=) c.1989+3C= (n.1989+3C=) | |
| 11 | g.66560758C>G | CA2574888146 | ACTN3 | c.1860+3C>G (n.1860+3C>G) c.1989+3C>G (n.1989+3C>G) | |
| 11 | g.66560758C>T | CA224076048 | ACTN3 | c.1860+3C>T (n.1860+3C>T) c.1989+3C>T (n.1989+3C>T) | dbSNP gnomAD v4 |