| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.66560587G>A | CA6124831 | ACTN3 | c.1692G>A (p.Ala564=) c.1821G>A (p.Ala607=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66560587G>C | CA475494323 | ACTN3 | c.1692G>C (p.Ala564=) c.1821G>C (p.Ala607=) | |
| 11 | g.66560587G= | CA1979721264 | ACTN3 | c.1692G= (p.Ala564=) c.1821G= (p.Ala607=) | |
| 11 | g.66560587G>T | CA475494324 | ACTN3 | c.1692G>T (p.Ala564=) c.1821G>T (p.Ala607=) | |
| 11 | g.66560588C>A | CA381447153 | ACTN3 | c.1693C>A (p.His565Asn) c.1822C>A (p.His608Asn) | gnomAD v4 |
| 11 | g.66560588C= | CA1979721272 | ACTN3 | c.1693C= (p.His565=) c.1822C= (p.His608=) | |
| 11 | g.66560588C>G | CA381447149 | ACTN3 | c.1693C>G (p.His565Asp) c.1822C>G (p.His608Asp) | dbSNP |
| 11 | g.66560588C>T | CA381447146 | ACTN3 | c.1693C>T (p.His565Tyr) c.1822C>T (p.His608Tyr) | |
| 11 | g.66560589A= | CA1979721277 | ACTN3 | c.1694A= (p.His565=) c.1823A= (p.His608=) | |
| 11 | g.66560589A>C | CA381447156 | ACTN3 | c.1694A>C (p.His565Pro) c.1823A>C (p.His608Pro) | |
| 11 | g.66560589A>G | CA6124832 | ACTN3 | c.1694A>G (p.His565Arg) c.1823A>G (p.His608Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66560589A>T | CA381447160 | ACTN3 | c.1694A>T (p.His565Leu) c.1823A>T (p.His608Leu) | |
| 11 | g.66560590C>A | CA381447170 | ACTN3 | c.1695C>A (p.His565Gln) c.1824C>A (p.His608Gln) | gnomAD v4 |
| 11 | g.66560590C= | CA1979721280 | ACTN3 | c.1695C= (p.His565=) c.1824C= (p.His608=) | |
| 11 | g.66560590C>G | CA381447173 | ACTN3 | c.1695C>G (p.His565Gln) c.1824C>G (p.His608Gln) | gnomAD v4 |
| 11 | g.66560590C>T | CA6124833 | ACTN3 | c.1695C>T (p.His565=) c.1824C>T (p.His608=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66560591G>A | CA6124834 | ACTN3 | c.1696G>A (p.Asp566Asn) c.1825G>A (p.Asp609Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.66560591G>C | CA224075860 | ACTN3 | c.1696G>C (p.Asp566His) c.1825G>C (p.Asp609His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66560591G= | CA1979721285 | ACTN3 | c.1696G= (p.Asp566=) c.1825G= (p.Asp609=) | |
| 11 | g.66560591G>T | CA381447181 | ACTN3 | c.1696G>T (p.Asp566Tyr) c.1825G>T (p.Asp609Tyr) | gnomAD v4 |
| 11 | g.66560592A>C | CA381447185 | ACTN3 | c.1697A>C (p.Asp566Ala) c.1826A>C (p.Asp609Ala) | |
| 11 | g.66560592A>G | CA381447192 | ACTN3 | c.1697A>G (p.Asp566Gly) c.1826A>G (p.Asp609Gly) | |
| 11 | g.66560592A>T | CA381447197 | ACTN3 | c.1697A>T (p.Asp566Val) c.1826A>T (p.Asp609Val) | |
| 11 | g.66560593T>A | CA381447202 | ACTN3 | c.1698T>A (p.Asp566Glu) c.1827T>A (p.Asp609Glu) | |
| 11 | g.66560593T>C | CA475494330 | ACTN3 | c.1698T>C (p.Asp566=) c.1827T>C (p.Asp609=) | |
| 11 | g.66560593T>G | CA381447206 | ACTN3 | c.1698T>G (p.Asp566Glu) c.1827T>G (p.Asp609Glu) | |
| 11 | g.66560594C>A | CA381447210 | ACTN3 | c.1699C>A (p.Gln567Lys) c.1828C>A (p.Gln610Lys) | |
| 11 | g.66560594C>G | CA381447213 | ACTN3 | c.1699C>G (p.Gln567Glu) c.1828C>G (p.Gln610Glu) | |
| 11 | g.66560594C>T | CA381447214 | ACTN3 | c.1699C>T (p.Gln567Ter) c.1828C>T (p.Gln610Ter) | |
| 11 | g.66560595A>C | CA381447221 | ACTN3 | c.1700A>C (p.Gln567Pro) c.1829A>C (p.Gln610Pro) | |
| 11 | g.66560595A>G | CA381447224 | ACTN3 | c.1700A>G (p.Gln567Arg) c.1829A>G (p.Gln610Arg) | |
| 11 | g.66560595A>T | CA381447226 | ACTN3 | c.1700A>T (p.Gln567Leu) c.1829A>T (p.Gln610Leu) | |
| 11 | g.66560596G>A | CA475494332 | ACTN3 | c.1701G>A (p.Gln567=) c.1830G>A (p.Gln610=) | |
| 11 | g.66560596G>C | CA381447227 | ACTN3 | c.1701G>C (p.Gln567His) c.1830G>C (p.Gln610His) | |
| 11 | g.66560596G>T | CA381447229 | ACTN3 | c.1701G>T (p.Gln567His) c.1830G>T (p.Gln610His) | |
| 11 | g.66560597T>A | CA381447231 | ACTN3 | c.1702T>A (p.Phe568Ile) c.1831T>A (p.Phe611Ile) | |
| 11 | g.66560597T>C | CA6124835 | ACTN3 | c.1702T>C (p.Phe568Leu) c.1831T>C (p.Phe611Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66560597T>G | CA381447240 | ACTN3 | c.1702T>G (p.Phe568Val) c.1831T>G (p.Phe611Val) | |
| 11 | g.66560597T= | CA1979721297 | ACTN3 | c.1702T= (p.Phe568=) c.1831T= (p.Phe611=) | |
| 11 | g.66560598T>A | CA381447241 | ACTN3 | c.1703T>A (p.Phe568Tyr) c.1832T>A (p.Phe611Tyr) | |
| 11 | g.66560598T>C | CA381447242 | ACTN3 | c.1703T>C (p.Phe568Ser) c.1832T>C (p.Phe611Ser) | |
| 11 | g.66560598T>G | CA381447243 | ACTN3 | c.1703T>G (p.Phe568Cys) c.1832T>G (p.Phe611Cys) | |
| 11 | g.66560599C>A | CA381447246 | ACTN3 | c.1704C>A (p.Phe568Leu) c.1833C>A (p.Phe611Leu) | |
| 11 | g.66560599C>G | CA381447247 | ACTN3 | c.1704C>G (p.Phe568Leu) c.1833C>G (p.Phe611Leu) | |
| 11 | g.66560599C>T | CA475494335 | ACTN3 | c.1704C>T (p.Phe568=) c.1833C>T (p.Phe611=) | |
| 11 | g.66560600A>C | CA381447252 | ACTN3 | c.1705A>C (p.Lys569Gln) c.1834A>C (p.Lys612Gln) | |
| 11 | g.66560600A>G | CA381447255 | ACTN3 | c.1705A>G (p.Lys569Glu) c.1834A>G (p.Lys612Glu) | |
| 11 | g.66560600A>T | CA381447256 | ACTN3 | c.1705A>T (p.Lys569Ter) c.1834A>T (p.Lys612Ter) | |
| 11 | g.66560601A>C | CA381447263 | ACTN3 | c.1706A>C (p.Lys569Thr) c.1835A>C (p.Lys612Thr) | |
| 11 | g.66560601A>G | CA381447266 | ACTN3 | c.1706A>G (p.Lys569Arg) c.1835A>G (p.Lys612Arg) | |
| 11 | g.66560601A>T | CA381447268 | ACTN3 | c.1706A>T (p.Lys569Met) c.1835A>T (p.Lys612Met) | |
| 11 | g.66560602G>A | CA1979721309 | ACTN3 | c.1707G>A (p.Lys569=) c.1836G>A (p.Lys612=) | dbSNP gnomAD v4 |
| 11 | g.66560602G>C | CA381447270 | ACTN3 | c.1707G>C (p.Lys569Asn) c.1836G>C (p.Lys612Asn) | |
| 11 | g.66560602G= | CA1979721305 | ACTN3 | c.1707G= (p.Lys569=) c.1836G= (p.Lys612=) | |
| 11 | g.66560602G>T | CA381447273 | ACTN3 | c.1707G>T (p.Lys569Asn) c.1836G>T (p.Lys612Asn) | gnomAD v4 |
| 11 | g.66560603G>A | CA381447277 | ACTN3 | c.1708G>A (p.Ala570Thr) c.1837G>A (p.Ala613Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560603G>C | CA381447279 | ACTN3 | c.1708G>C (p.Ala570Pro) c.1837G>C (p.Ala613Pro) | |
| 11 | g.66560603G= | CA1979721316 | ACTN3 | c.1708G= (p.Ala570=) c.1837G= (p.Ala613=) | |
| 11 | g.66560603G>T | CA381447281 | ACTN3 | c.1708G>T (p.Ala570Ser) c.1837G>T (p.Ala613Ser) | |
| 11 | g.66560604C>A | CA381447292 | ACTN3 | c.1709C>A (p.Ala570Glu) c.1838C>A (p.Ala613Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560604C= | CA1979721321 | ACTN3 | c.1709C= (p.Ala570=) c.1838C= (p.Ala613=) | |
| 11 | g.66560604C>G | CA381447289 | ACTN3 | c.1709C>G (p.Ala570Gly) c.1838C>G (p.Ala613Gly) | |
| 11 | g.66560604C>T | CA381447285 | ACTN3 | c.1709C>T (p.Ala570Val) c.1838C>T (p.Ala613Val) | |
| 11 | g.66560606A>C | CA381447295 | ACTN3 | c.1711A>C (p.Thr571Pro) c.1840A>C (p.Thr614Pro) | |
| 11 | g.66560606A>G | CA381447301 | ACTN3 | c.1711A>G (p.Thr571Ala) c.1840A>G (p.Thr614Ala) | |
| 11 | g.66560606A>T | CA381447298 | ACTN3 | c.1711A>T (p.Thr571Ser) c.1840A>T (p.Thr614Ser) | |
| 11 | g.66560607C>A | CA381447307 | ACTN3 | c.1712C>A (p.Thr571Lys) c.1841C>A (p.Thr614Lys) | |
| 11 | g.66560607C= | CA1979721329 | ACTN3 | c.1712C= (p.Thr571=) c.1841C= (p.Thr614=) | |
| 11 | g.66560607C>G | CA381447312 | ACTN3 | c.1712C>G (p.Thr571Arg) c.1841C>G (p.Thr614Arg) | |
| 11 | g.66560607C>T | CA381447309 | ACTN3 | c.1712C>T (p.Thr571Ile) c.1841C>T (p.Thr614Ile) | dbSNP |
| 11 | g.66560608A>G | CA2614514205 | ACTN3 | c.1713A>G (p.Thr571=) c.1842A>G (p.Thr614=) | gnomAD v4 |
| 11 | g.66560609C>A | CA381447314 | ACTN3 | c.1714C>A (p.Leu572Met) c.1843C>A (p.Leu615Met) | |
| 11 | g.66560609C= | CA1979721330 | ACTN3 | c.1714C= (p.Leu572=) c.1843C= (p.Leu615=) | |
| 11 | g.66560609C>G | CA6124836 | ACTN3 | c.1714C>G (p.Leu572Val) c.1843C>G (p.Leu615Val) | dbSNP gnomAD v4 |
| 11 | g.66560609C>T | CA2724203670 | ACTN3 | c.1714C>T (p.Leu572=) c.1843C>T (p.Leu615=) | dbSNP |
| 11 | g.66560610T>A | CA381447320 | ACTN3 | c.1715T>A (p.Leu572Gln) c.1844T>A (p.Leu615Gln) | |
| 11 | g.66560610T>C | CA381447324 | ACTN3 | c.1715T>C (p.Leu572Pro) c.1844T>C (p.Leu615Pro) | |
| 11 | g.66560610T>G | CA381447326 | ACTN3 | c.1715T>G (p.Leu572Arg) c.1844T>G (p.Leu615Arg) | |
| 11 | g.66560611G>A | CA2614514213 | ACTN3 | c.1716G>A (p.Leu572=) c.1845G>A (p.Leu615=) | gnomAD v4 |
| 11 | g.66560612C>A | CA381447328 | ACTN3 | c.1717C>A (p.Pro573Thr) c.1846C>A (p.Pro616Thr) | gnomAD v4 |
| 11 | g.66560612C= | CA1979721334 | ACTN3 | c.1717C= (p.Pro573=) c.1846C= (p.Pro616=) | |
| 11 | g.66560612C>G | CA381447331 | ACTN3 | c.1717C>G (p.Pro573Ala) c.1846C>G (p.Pro616Ala) | dbSNP gnomAD v4 |
| 11 | g.66560612C>T | CA381447334 | ACTN3 | c.1717C>T (p.Pro573Ser) c.1846C>T (p.Pro616Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560614del | CA2614514217 | ACTN3 | c.1719del (p.Glu574ArgfsTer?) c.1848del (p.Glu617ArgfsTer?) | gnomAD v4 |
| 11 | g.66560613C>A | CA381447338 | ACTN3 | c.1718C>A (p.Pro573His) c.1847C>A (p.Pro616His) | |
| 11 | g.66560613C>G | CA381447339 | ACTN3 | c.1718C>G (p.Pro573Arg) c.1847C>G (p.Pro616Arg) | |
| 11 | g.66560613C>T | CA381447340 | ACTN3 | c.1718C>T (p.Pro573Leu) c.1847C>T (p.Pro616Leu) | |
| 11 | g.66560614C= | CA1979721335 | ACTN3 | c.1719C= (p.Pro573=) c.1848C= (p.Pro616=) | |
| 11 | g.66560614C>T | CA6124837 | ACTN3 | c.1719C>T (p.Pro573=) c.1848C>T (p.Pro616=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560615G>A | CA6124838 | ACTN3 | c.1720G>A (p.Glu574Lys) c.1849G>A (p.Glu617Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560615G>C | CA381447343 | ACTN3 | c.1720G>C (p.Glu574Gln) c.1849G>C (p.Glu617Gln) | |
| 11 | g.66560615G= | CA1979721341 | ACTN3 | c.1720G= (p.Glu574=) c.1849G= (p.Glu617=) | |
| 11 | g.66560615G>T | CA381447346 | ACTN3 | c.1720G>T (p.Glu574Ter) c.1849G>T (p.Glu617Ter) | |
| 11 | g.66560616A= | CA1979721364 | ACTN3 | c.1721A= (p.Glu574=) c.1850A= (p.Glu617=) | |
| 11 | g.66560616A>C | CA381447354 | ACTN3 | c.1721A>C (p.Glu574Ala) c.1850A>C (p.Glu617Ala) | |
| 11 | g.66560616A>G | CA381447360 | ACTN3 | c.1721A>G (p.Glu574Gly) c.1850A>G (p.Glu617Gly) | dbSNP gnomAD v4 |
| 11 | g.66560616A>T | CA381447363 | ACTN3 | c.1721A>T (p.Glu574Val) c.1850A>T (p.Glu617Val) | gnomAD v4 |
| 11 | g.66560617G>A | CA2614514231 | ACTN3 | c.1722G>A (p.Glu574=) c.1851G>A (p.Glu617=) | gnomAD v4 |
| 11 | g.66560617G>C | CA381447371 | ACTN3 | c.1722G>C (p.Glu574Asp) c.1851G>C (p.Glu617Asp) | |
| 11 | g.66560617G>T | CA381447373 | ACTN3 | c.1722G>T (p.Glu574Asp) c.1851G>T (p.Glu617Asp) | |
| 11 | g.66560618G>A | CA381447376 | ACTN3 | c.1723G>A (p.Ala575Thr) c.1852G>A (p.Ala618Thr) | |
| 11 | g.66560618G>C | CA381447379 | ACTN3 | c.1723G>C (p.Ala575Pro) c.1852G>C (p.Ala618Pro) | |
| 11 | g.66560618G>T | CA381447382 | ACTN3 | c.1723G>T (p.Ala575Ser) c.1852G>T (p.Ala618Ser) | |
| 11 | g.66560619C>A | CA381447385 | ACTN3 | c.1724C>A (p.Ala575Asp) c.1853C>A (p.Ala618Asp) | gnomAD v4 |
| 11 | g.66560619C= | CA1979721367 | ACTN3 | c.1724C= (p.Ala575=) c.1853C= (p.Ala618=) | |
| 11 | g.66560619C>G | CA381447388 | ACTN3 | c.1724C>G (p.Ala575Gly) c.1853C>G (p.Ala618Gly) | |
| 11 | g.66560619C>T | CA381447390 | ACTN3 | c.1724C>T (p.Ala575Val) c.1853C>T (p.Ala618Val) | dbSNP gnomAD v4 |
| 11 | g.66560620T>C | CA2528979120 | ACTN3 | c.1725T>C (p.Ala575=) c.1854T>C (p.Ala618=) | |
| 11 | g.66560620_66560624delinsTGACC | CA1979721369 | ACTN3 | c.1725_1729delinsTGACC (p.Ala575=) c.1854_1858delinsTGACC (p.Ala618=) | |
| 11 | g.66560621G>A | CA381447397 | ACTN3 | c.1726G>A (p.Asp576Asn) c.1855G>A (p.Asp619Asn) | gnomAD v4 |
| 11 | g.66560621G>C | CA6124839 | ACTN3 | c.1726G>C (p.Asp576His) c.1855G>C (p.Asp619His) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560621G= | CA1979721377 | ACTN3 | c.1726G= (p.Asp576=) c.1855G= (p.Asp619=) | |
| 11 | g.66560621G>T | CA381447393 | ACTN3 | c.1726G>T (p.Asp576Tyr) c.1855G>T (p.Asp619Tyr) | |
| 11 | g.66560623_66560626del | CA1979721374 | ACTN3 | c.1728_1731del (p.Asp576GlufsTer?) c.1857_1860del (p.Asp619GlufsTer?) | dbSNP |
| 11 | g.66560622A>C | CA381447405 | ACTN3 | c.1727A>C (p.Asp576Ala) c.1856A>C (p.Asp619Ala) | |
| 11 | g.66560622A>G | CA381447401 | ACTN3 | c.1727A>G (p.Asp576Gly) c.1856A>G (p.Asp619Gly) | |
| 11 | g.66560622A>T | CA381447402 | ACTN3 | c.1727A>T (p.Asp576Val) c.1856A>T (p.Asp619Val) | |
| 11 | g.66560623C>A | CA381447407 | ACTN3 | c.1728C>A (p.Asp576Glu) c.1857C>A (p.Asp619Glu) | |
| 11 | g.66560623C>G | CA381447408 | ACTN3 | c.1728C>G (p.Asp576Glu) c.1857C>G (p.Asp619Glu) | |
| 11 | g.66560623C>T | CA2567040692 | ACTN3 | c.1728C>T (p.Asp576=) c.1857C>T (p.Asp619=) | |
| 11 | g.66560624C>A | CA1979721384 | ACTN3 | c.1729C>A (p.Arg577=) c.1858C>A (p.Arg620=) | dbSNP |
| 11 | g.66560624C= | CA6124840 | ACTN3 | c.1729C= (p.Arg577=) c.1858C= (p.Arg620=) | |
| 11 | g.66560624C>G | CA381447409 | ACTN3 | c.1729C>G (p.Arg577Gly) c.1858C>G (p.Arg620Gly) | |
| 11 | g.66560624C>T | CA128040 | ACTN3 | c.1729C>T (p.Arg577Ter) c.1858C>T (p.Arg620Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560625G>A | CA224075870 | ACTN3 | c.1730G>A (p.Arg577Gln) c.1859G>A (p.Arg620Gln) | dbSNP gnomAD v4 |
| 11 | g.66560625G>C | CA381447411 | ACTN3 | c.1730G>C (p.Arg577Pro) c.1859G>C (p.Arg620Pro) | |
| 11 | g.66560625G= | CA1979721388 | ACTN3 | c.1730G= (p.Arg577=) c.1859G= (p.Arg620=) | |
| 11 | g.66560625G>T | CA381447412 | ACTN3 | c.1730G>T (p.Arg577Leu) c.1859G>T (p.Arg620Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560626A>C | CA2614514250 | ACTN3 | c.1731A>C (p.Arg577=) c.1860A>C (p.Arg620=) | gnomAD v4 |
| 11 | g.66560627G>A | CA381447414 | ACTN3 | c.1732G>A (p.Glu578Lys) c.1861G>A (p.Glu621Lys) | dbSNP gnomAD v4 |
| 11 | g.66560627G>C | CA381447415 | ACTN3 | c.1732G>C (p.Glu578Gln) c.1861G>C (p.Glu621Gln) | dbSNP gnomAD v4 |
| 11 | g.66560627G= | CA1979721400 | ACTN3 | c.1732G= (p.Glu578=) c.1861G= (p.Glu621=) | |
| 11 | g.66560627G>T | CA381447418 | ACTN3 | c.1732G>T (p.Glu578Ter) c.1861G>T (p.Glu621Ter) | |
| 11 | g.66560628A>C | CA381447425 | ACTN3 | c.1733A>C (p.Glu578Ala) c.1862A>C (p.Glu621Ala) | gnomAD v4 |
| 11 | g.66560628A>G | CA381447424 | ACTN3 | c.1733A>G (p.Glu578Gly) c.1862A>G (p.Glu621Gly) | gnomAD v4 |
| 11 | g.66560628A>T | CA381447422 | ACTN3 | c.1733A>T (p.Glu578Val) c.1862A>T (p.Glu621Val) | |
| 11 | g.66560629G>C | CA381447433 | ACTN3 | c.1734G>C (p.Glu578Asp) c.1863G>C (p.Glu621Asp) | |
| 11 | g.66560629G>T | CA381447434 | ACTN3 | c.1734G>T (p.Glu578Asp) c.1863G>T (p.Glu621Asp) | |
| 11 | g.66560630C>A | CA224075875 | ACTN3 | c.1735C>A (p.Arg579=) c.1864C>A (p.Arg622=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560630C= | CA1979721404 | ACTN3 | c.1735C= (p.Arg579=) c.1864C= (p.Arg622=) | |
| 11 | g.66560630C>G | CA381447435 | ACTN3 | c.1735C>G (p.Arg579Gly) c.1864C>G (p.Arg622Gly) | |
| 11 | g.66560630C>T | CA6124841 | ACTN3 | c.1735C>T (p.Arg579Ter) c.1864C>T (p.Arg622Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560631G>A | CA6124842 | ACTN3 | c.1736G>A (p.Arg579Gln) c.1865G>A (p.Arg622Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560631G>C | CA381447442 | ACTN3 | c.1736G>C (p.Arg579Pro) c.1865G>C (p.Arg622Pro) | |
| 11 | g.66560631G= | CA1979721410 | ACTN3 | c.1736G= (p.Arg579=) c.1865G= (p.Arg622=) | |
| 11 | g.66560631G>T | CA381447445 | ACTN3 | c.1736G>T (p.Arg579Leu) c.1865G>T (p.Arg622Leu) | |
| 11 | g.66560632A>G | CA2500689828 | ACTN3 | c.1737A>G (p.Arg579=) c.1866A>G (p.Arg622=) | |
| 11 | g.66560633G>A | CA381447448 | ACTN3 | c.1738G>A (p.Gly580Ser) c.1867G>A (p.Gly623Ser) | gnomAD v4 |
| 11 | g.66560633G>C | CA381447451 | ACTN3 | c.1738G>C (p.Gly580Arg) c.1867G>C (p.Gly623Arg) | |
| 11 | g.66560633G>T | CA381447457 | ACTN3 | c.1738G>T (p.Gly580Cys) c.1867G>T (p.Gly623Cys) | |
| 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 |