| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.66560634G>A | CA381447459 | ACTN3 | c.1739G>A (p.Gly580Asp) c.1868G>A (p.Gly623Asp) | dbSNP gnomAD v4 |
| 11 | g.66560634G>C | CA381447462 | ACTN3 | c.1739G>C (p.Gly580Ala) c.1868G>C (p.Gly623Ala) | |
| 11 | g.66560634G= | CA1979721415 | ACTN3 | c.1739G= (p.Gly580=) c.1868G= (p.Gly623=) | |
| 11 | g.66560634G>T | CA381447463 | ACTN3 | c.1739G>T (p.Gly580Val) c.1868G>T (p.Gly623Val) | |
| 11 | g.66560636G>A | CA6124843 | ACTN3 | c.1741G>A (p.Ala581Thr) c.1870G>A (p.Ala624Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560636G>C | CA381447471 | ACTN3 | c.1741G>C (p.Ala581Pro) c.1870G>C (p.Ala624Pro) | |
| 11 | g.66560636G= | CA1979721418 | ACTN3 | c.1741G= (p.Ala581=) c.1870G= (p.Ala624=) | |
| 11 | g.66560636G>T | CA381447465 | ACTN3 | c.1741G>T (p.Ala581Ser) c.1870G>T (p.Ala624Ser) | |
| 11 | g.66560637C>A | CA381447477 | ACTN3 | c.1742C>A (p.Ala581Asp) c.1871C>A (p.Ala624Asp) | gnomAD v4 |
| 11 | g.66560637C>G | CA381447482 | ACTN3 | c.1742C>G (p.Ala581Gly) c.1871C>G (p.Ala624Gly) | |
| 11 | g.66560637C>T | CA381447479 | ACTN3 | c.1742C>T (p.Ala581Val) c.1871C>T (p.Ala624Val) | |
| 11 | g.66560638dup | CA2614514272 | ACTN3 | c.1743dup (p.Ile582HisfsTer7) c.1872dup (p.Ile625HisfsTer7) | gnomAD v4 |
| 11 | g.66560638C= | CA1979721420 | ACTN3 | c.1743C= (p.Ala581=) c.1872C= (p.Ala624=) | |
| 11 | g.66560638C>G | CA1979721422 | ACTN3 | c.1743C>G (p.Ala581=) c.1872C>G (p.Ala624=) | dbSNP |
| 11 | g.66560639A>C | CA381447484 | ACTN3 | c.1744A>C (p.Ile582Leu) c.1873A>C (p.Ile625Leu) | |
| 11 | g.66560639A>G | CA381447486 | ACTN3 | c.1744A>G (p.Ile582Val) c.1873A>G (p.Ile625Val) | |
| 11 | g.66560639A>T | CA381447489 | ACTN3 | c.1744A>T (p.Ile582Phe) c.1873A>T (p.Ile625Phe) | |
| 11 | g.66560640T>A | CA381447491 | ACTN3 | c.1745T>A (p.Ile582Asn) c.1874T>A (p.Ile625Asn) | |
| 11 | g.66560640T>C | CA381447493 | ACTN3 | c.1745T>C (p.Ile582Thr) c.1874T>C (p.Ile625Thr) | |
| 11 | g.66560640T>G | CA381447497 | ACTN3 | c.1745T>G (p.Ile582Ser) c.1874T>G (p.Ile625Ser) | |
| 11 | g.66560641C>G | CA381447500 | ACTN3 | c.1746C>G (p.Ile582Met) c.1875C>G (p.Ile625Met) | |
| 11 | g.66560642A= | CA1979721424 | ACTN3 | c.1747A= (p.Met583=) c.1876A= (p.Met626=) | |
| 11 | g.66560642A>C | CA381447502 | ACTN3 | c.1747A>C (p.Met583Leu) c.1876A>C (p.Met626Leu) | |
| 11 | g.66560642A>G | CA224075877 | ACTN3 | c.1747A>G (p.Met583Val) c.1876A>G (p.Met626Val) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560642A>T | CA381447512 | ACTN3 | c.1747A>T (p.Met583Leu) c.1876A>T (p.Met626Leu) | |
| 11 | g.66560643T>A | CA381447516 | ACTN3 | c.1748T>A (p.Met583Lys) c.1877T>A (p.Met626Lys) | |
| 11 | g.66560643T>C | CA381447518 | ACTN3 | c.1748T>C (p.Met583Thr) c.1877T>C (p.Met626Thr) | gnomAD v4 |
| 11 | g.66560643T>G | CA381447520 | ACTN3 | c.1748T>G (p.Met583Arg) c.1877T>G (p.Met626Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560643T= | CA1979721429 | ACTN3 | c.1748T= (p.Met583=) c.1877T= (p.Met626=) | |
| 11 | g.66560644G>A | CA381447524 | ACTN3 | c.1749G>A (p.Met583Ile) c.1878G>A (p.Met626Ile) | dbSNP |
| 11 | g.66560644G>C | CA381447529 | ACTN3 | c.1749G>C (p.Met583Ile) c.1878G>C (p.Met626Ile) | dbSNP gnomAD v4 |
| 11 | g.66560644G= | CA1979721436 | ACTN3 | c.1749G= (p.Met583=) c.1878G= (p.Met626=) | |
| 11 | g.66560644G>T | CA381447526 | ACTN3 | c.1749G>T (p.Met583Ile) c.1878G>T (p.Met626Ile) | |
| 11 | g.66560645G>A | CA381447531 | ACTN3 | c.1750G>A (p.Gly584Ser) c.1879G>A (p.Gly627Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560645G>C | CA381447533 | ACTN3 | c.1750G>C (p.Gly584Arg) c.1879G>C (p.Gly627Arg) | |
| 11 | g.66560645G= | CA1979721437 | ACTN3 | c.1750G= (p.Gly584=) c.1879G= (p.Gly627=) | |
| 11 | g.66560645G>T | CA381447535 | ACTN3 | c.1750G>T (p.Gly584Cys) c.1879G>T (p.Gly627Cys) | gnomAD v4 |
| 11 | g.66560646G>A | CA381447538 | ACTN3 | c.1751G>A (p.Gly584Asp) c.1880G>A (p.Gly627Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560646G>C | CA381447540 | ACTN3 | c.1751G>C (p.Gly584Ala) c.1880G>C (p.Gly627Ala) | |
| 11 | g.66560646G= | CA1979721439 | ACTN3 | c.1751G= (p.Gly584=) c.1880G= (p.Gly627=) | |
| 11 | g.66560646G>T | CA381447542 | ACTN3 | c.1751G>T (p.Gly584Val) c.1880G>T (p.Gly627Val) | |
| 11 | g.66560647C>A | CA475494336 | ACTN3 | c.1752C>A (p.Gly584=) c.1881C>A (p.Gly627=) | |
| 11 | g.66560647C= | CA1979721453 | ACTN3 | c.1752C= (p.Gly584=) c.1881C= (p.Gly627=) | |
| 11 | g.66560647C>G | CA475494338 | ACTN3 | c.1752C>G (p.Gly584=) c.1881C>G (p.Gly627=) | |
| 11 | g.66560647C>T | CA475494337 | ACTN3 | c.1752C>T (p.Gly584=) c.1881C>T (p.Gly627=) | |
| 11 | g.66560648A>C | CA381447544 | ACTN3 | c.1753A>C (p.Ile585Leu) c.1882A>C (p.Ile628Leu) | gnomAD v4 |
| 11 | g.66560648A>G | CA381447547 | ACTN3 | c.1753A>G (p.Ile585Val) c.1882A>G (p.Ile628Val) | |
| 11 | g.66560648A>T | CA381447550 | ACTN3 | c.1753A>T (p.Ile585Phe) c.1882A>T (p.Ile628Phe) | |
| 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.66560649T>A | CA381447564 | ACTN3 | c.1754T>A (p.Ile585Asn) c.1883T>A (p.Ile628Asn) | |
| 11 | g.66560649T>C | CA381447562 | ACTN3 | c.1754T>C (p.Ile585Thr) c.1883T>C (p.Ile628Thr) | COSMIC |
| 11 | g.66560649T>G | CA381447553 | ACTN3 | c.1754T>G (p.Ile585Ser) c.1883T>G (p.Ile628Ser) | |
| 11 | g.66560650C>A | CA475494340 | ACTN3 | c.1755C>A (p.Ile585=) c.1884C>A (p.Ile628=) | |
| 11 | g.66560650C>G | CA381447566 | ACTN3 | c.1755C>G (p.Ile585Met) c.1884C>G (p.Ile628Met) | gnomAD v4 |
| 11 | g.66560650C>T | CA475494341 | ACTN3 | c.1755C>T (p.Ile585=) c.1884C>T (p.Ile628=) | COSMIC |
| 11 | g.66560651C>A | CA6124844 | ACTN3 | c.1756C>A (p.Gln586Lys) c.1885C>A (p.Gln629Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66560651C= | CA1979721500 | ACTN3 | c.1756C= (p.Gln586=) c.1885C= (p.Gln629=) | |
| 11 | g.66560651C>G | CA381447567 | ACTN3 | c.1756C>G (p.Gln586Glu) c.1885C>G (p.Gln629Glu) | |
| 11 | g.66560651C>T | CA6124845 | ACTN3 | c.1756C>T (p.Gln586Ter) c.1885C>T (p.Gln629Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66560652A>C | CA381447569 | ACTN3 | c.1757A>C (p.Gln586Pro) c.1886A>C (p.Gln629Pro) | |
| 11 | g.66560652A>G | CA381447571 | ACTN3 | c.1757A>G (p.Gln586Arg) c.1886A>G (p.Gln629Arg) | |
| 11 | g.66560652A>T | CA381447574 | ACTN3 | c.1757A>T (p.Gln586Leu) c.1886A>T (p.Gln629Leu) | |
| 11 | g.66560653G>A | CA475494345 | ACTN3 | c.1758G>A (p.Gln586=) c.1887G>A (p.Gln629=) | |
| 11 | g.66560653G>C | CA381447577 | ACTN3 | c.1758G>C (p.Gln586His) c.1887G>C (p.Gln629His) | gnomAD v4 |
| 11 | g.66560653G>T | CA381447584 | ACTN3 | c.1758G>T (p.Gln586His) c.1887G>T (p.Gln629His) | |
| 11 | g.66560654G>A | CA381447587 | ACTN3 | c.1759G>A (p.Gly587Ser) c.1888G>A (p.Gly630Ser) | gnomAD v4 |
| 11 | g.66560654G>C | CA381447597 | ACTN3 | c.1759G>C (p.Gly587Arg) c.1888G>C (p.Gly630Arg) | |
| 11 | g.66560654G>T | CA381447599 | ACTN3 | c.1759G>T (p.Gly587Cys) c.1888G>T (p.Gly630Cys) | |
| 11 | g.66560655G>A | CA381447608 | ACTN3 | c.1760G>A (p.Gly587Asp) c.1889G>A (p.Gly630Asp) | |
| 11 | g.66560655G>C | CA381447603 | ACTN3 | c.1760G>C (p.Gly587Ala) c.1889G>C (p.Gly630Ala) | |
| 11 | g.66560655G>T | CA381447606 | ACTN3 | c.1760G>T (p.Gly587Val) c.1889G>T (p.Gly630Val) | |
| 11 | g.66560656T>A | CA475494350 | ACTN3 | c.1761T>A (p.Gly587=) c.1890T>A (p.Gly630=) | |
| 11 | g.66560656T>C | CA224075879 | ACTN3 | c.1761T>C (p.Gly587=) c.1890T>C (p.Gly630=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560656T>G | CA475494349 | ACTN3 | c.1761T>G (p.Gly587=) c.1890T>G (p.Gly630=) | gnomAD v4 |
| 11 | g.66560656T= | CA1979721527 | ACTN3 | c.1761T= (p.Gly587=) c.1890T= (p.Gly630=) | |
| 11 | g.66560657G>A | CA381447612 | ACTN3 | c.1762G>A (p.Glu588Lys) c.1891G>A (p.Glu631Lys) | dbSNP |
| 11 | g.66560657G>C | CA381447626 | ACTN3 | c.1762G>C (p.Glu588Gln) c.1891G>C (p.Glu631Gln) | |
| 11 | g.66560657G= | CA1979721539 | ACTN3 | c.1762G= (p.Glu588=) c.1891G= (p.Glu631=) | |
| 11 | g.66560657G>T | CA381447628 | ACTN3 | c.1762G>T (p.Glu588Ter) c.1891G>T (p.Glu631Ter) | |
| 11 | g.66560658A>C | CA381447630 | ACTN3 | c.1763A>C (p.Glu588Ala) c.1892A>C (p.Glu631Ala) | |
| 11 | g.66560658A>G | CA381447633 | ACTN3 | c.1763A>G (p.Glu588Gly) c.1892A>G (p.Glu631Gly) | |
| 11 | g.66560658A>T | CA381447636 | ACTN3 | c.1763A>T (p.Glu588Val) c.1892A>T (p.Glu631Val) | |
| 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=) |