Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.66560547T>ACA2614514031ACTN3c.1678-26T>A (n.1678-26T>A)
c.1807-26T>A (n.1807-26T>A)
 gnomAD v4
11g.66560547T>CCA2614514035ACTN3c.1678-26T>C (n.1678-26T>C)
c.1807-26T>C (n.1807-26T>C)
 gnomAD v4
11g.66560547_66560548delCA2574888145ACTN3c.1678-26_1678-25del (n.1678-26_1678-25del)
c.1807-26_1807-25del (n.1807-26_1807-25del)
11g.66560548G>ACA1979721170ACTN3c.1678-25G>A (n.1678-25G>A)
c.1807-25G>A (n.1807-25G>A)
 dbSNP gnomAD v4
11g.66560548G=CA1979721166ACTN3c.1678-25G= (n.1678-25G=)
c.1807-25G= (n.1807-25G=)
11g.66560548G>TCA2614514037ACTN3c.1678-25G>T (n.1678-25G>T)
c.1807-25G>T (n.1807-25G>T)
 gnomAD v4
11g.66560550C>ACA2614514040ACTN3c.1678-23C>A (n.1678-23C>A)
c.1807-23C>A (n.1807-23C>A)
 gnomAD v4
11g.66560550C=CA1979721177ACTN3c.1678-23C= (n.1678-23C=)
c.1807-23C= (n.1807-23C=)
11g.66560550C>TCA1979721181ACTN3c.1678-23C>T (n.1678-23C>T)
c.1807-23C>T (n.1807-23C>T)
 dbSNP gnomAD v4
11g.66560551A=CA1979721185ACTN3c.1678-22A= (n.1678-22A=)
c.1807-22A= (n.1807-22A=)
11g.66560551A>CCA224075809ACTN3c.1678-22A>C (n.1678-22A>C)
c.1807-22A>C (n.1807-22A>C)
 dbSNP
11g.66560552C>ACA2614514046ACTN3c.1678-21C>A (n.1678-21C>A)
c.1807-21C>A (n.1807-21C>A)
 gnomAD v4
11g.66560552C=CA1979721192ACTN3c.1678-21C= (n.1678-21C=)
c.1807-21C= (n.1807-21C=)
11g.66560552C>GCA224075813ACTN3c.1678-21C>G (n.1678-21C>G)
c.1807-21C>G (n.1807-21C>G)
 dbSNP gnomAD v2 gnomAD v4
11g.66560552C>TCA2614514050ACTN3c.1678-21C>T (n.1678-21C>T)
c.1807-21C>T (n.1807-21C>T)
 gnomAD v4
11g.66560554_66560558delinsTCCTGCA1979721197ACTN3c.1678-19_1678-15delinsTCCTG (n.1678-19_1678-15delinsTCCTG)
c.1807-19_1807-15delinsTCCTG (n.1807-19_1807-15delinsTCCTG)
11g.66560555C=CA1979721206ACTN3c.1678-18C= (n.1678-18C=)
c.1807-18C= (n.1807-18C=)
11g.66560555C>TCA2614514058ACTN3c.1678-18C>T (n.1678-18C>T)
c.1807-18C>T (n.1807-18C>T)
 gnomAD v4
11g.66560556delCA2614514056ACTN3c.1678-17del (n.1678-17del)
c.1807-17del (n.1807-17del)
 gnomAD v4
11g.66560559_66560562delCA600232696ACTN3c.1678-14_1678-11del (n.1678-14_1678-11del)
c.1807-14_1807-11del (n.1807-14_1807-11del)
 dbSNP gnomAD v2 gnomAD v4
11g.66560556C>ACA2614514063ACTN3c.1678-17C>A (n.1678-17C>A)
c.1807-17C>A (n.1807-17C>A)
 gnomAD v4
11g.66560556C=CA1979721218ACTN3c.1678-17C= (n.1678-17C=)
c.1807-17C= (n.1807-17C=)
11g.66560556C>TCA1979721219ACTN3c.1678-17C>T (n.1678-17C>T)
c.1807-17C>T (n.1807-17C>T)
 dbSNP
11g.66560556_66560562dupCA6124823ACTN3c.1678-17_1678-11dup (n.1678-17_1678-11dup)
c.1807-17_1807-11dup (n.1807-17_1807-11dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66560557T>CCA6124824ACTN3c.1678-16T>C (n.1678-16T>C)
c.1807-16T>C (n.1807-16T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.66560557T=CA1979721223ACTN3c.1678-16T= (n.1678-16T=)
c.1807-16T= (n.1807-16T=)
11g.66560558G>ACA2614514072ACTN3c.1678-15G>A (n.1678-15G>A)
c.1807-15G>A (n.1807-15G>A)
 gnomAD v4
11g.66560558G>CCA2614514069ACTN3c.1678-15G>C (n.1678-15G>C)
c.1807-15G>C (n.1807-15G>C)
 gnomAD v4
11g.66560558G>TCA2614514071ACTN3c.1678-15G>T (n.1678-15G>T)
c.1807-15G>T (n.1807-15G>T)
 gnomAD v4
11g.66560559C>ACA2614514075ACTN3c.1678-14C>A (n.1678-14C>A)
c.1807-14C>A (n.1807-14C>A)
 gnomAD v4
11g.66560559C=CA1979721224ACTN3c.1678-14C= (n.1678-14C=)
c.1807-14C= (n.1807-14C=)
11g.66560559C>TCA679419968ACTN3c.1678-14C>T (n.1678-14C>T)
c.1807-14C>T (n.1807-14C>T)
 dbSNP
11g.66560560C>GCA2614514077ACTN3c.1678-13C>G (n.1678-13C>G)
c.1807-13C>G (n.1807-13C>G)
 gnomAD v4
11g.66560562G>CCA2614514080ACTN3c.1678-11G>C (n.1678-11G>C)
c.1807-11G>C (n.1807-11G>C)
 gnomAD v4
11g.66560563T>ACA600232697ACTN3c.1678-10T>A (n.1678-10T>A)
c.1807-10T>A (n.1807-10T>A)
 dbSNP gnomAD v2 gnomAD v4
11g.66560563T=CA1979721227ACTN3c.1678-10T= (n.1678-10T=)
c.1807-10T= (n.1807-10T=)
11g.66560564C>ACA2614514088ACTN3c.1678-9C>A (n.1678-9C>A)
c.1807-9C>A (n.1807-9C>A)
 gnomAD v4
11g.66560564C=CA1979721230ACTN3c.1678-9C= (n.1678-9C=)
c.1807-9C= (n.1807-9C=)
11g.66560564C>TCA6124825ACTN3c.1678-9C>T (n.1678-9C>T)
c.1807-9C>T (n.1807-9C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.66560565G>ACA6124826ACTN3c.1678-8G>A (n.1678-8G>A)
c.1807-8G>A (n.1807-8G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66560565G=CA1979721234ACTN3c.1678-8G= (n.1678-8G=)
c.1807-8G= (n.1807-8G=)
11g.66560565G>TCA2614514095ACTN3c.1678-8G>T (n.1678-8G>T)
c.1807-8G>T (n.1807-8G>T)
 gnomAD v4
11g.66560570delCA2614514099ACTN3c.1678-3del (n.1678-3del)
c.1807-3del (n.1807-3del)
 gnomAD v4
11g.66560569C>TCA2614514102ACTN3c.1678-4C>T (n.1678-4C>T)
c.1807-4C>T (n.1807-4C>T)
 gnomAD v4
11g.66560570C>ACA2614514103ACTN3c.1678-3C>A (n.1678-3C>A)
c.1807-3C>A (n.1807-3C>A)
 gnomAD v4
11g.66560570C>TCA2614514107ACTN3c.1678-3C>T (n.1678-3C>T)
c.1807-3C>T (n.1807-3C>T)
 gnomAD v4
11g.66560571A=CA1979721239ACTN3c.1678-2A= (n.1678-2A=)
c.1807-2A= (n.1807-2A=)
11g.66560571A>CCA224075837ACTN3c.1678-2A>C (n.1678-2A>C)
c.1807-2A>C (n.1807-2A>C)
 dbSNP gnomAD v3 gnomAD v4
11g.66560571A>GCA381446985ACTN3c.1678-2A>G (n.1678-2A>G)
c.1807-2A>G (n.1807-2A>G)
 gnomAD v4
11g.66560571A>TCA381446990ACTN3c.1678-2A>T (n.1678-2A>T)
c.1807-2A>T (n.1807-2A>T)
11g.66560572G>ACA6124827ACTN3c.1678-1G>A (n.1678-1G>A)
c.1807-1G>A (n.1807-1G>A)
 dbSNP ExAC
11g.66560572G>CCA381447006ACTN3c.1678-1G>C (n.1678-1G>C)
c.1807-1G>C (n.1807-1G>C)
 dbSNP gnomAD v3 gnomAD v4
11g.66560572G=CA1979721245ACTN3c.1678-1G= (n.1678-1G=)
c.1807-1G= (n.1807-1G=)
11g.66560572G>TCA381447007ACTN3c.1678-1G>T (n.1678-1G>T)
c.1807-1G>T (n.1807-1G>T)
 gnomAD v4
11g.66560573A=CA1979721251ACTN3c.1678A= (p.Ser560=)
c.1807A= (p.Ser603=)
11g.66560573A>CCA381447018ACTN3c.1678A>C (p.Ser560Arg)
c.1807A>C (p.Ser603Arg)
11g.66560573A>GCA6124828ACTN3c.1678A>G (p.Ser560Gly)
c.1807A>G (p.Ser603Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66560573A>TCA381447015ACTN3c.1678A>T (p.Ser560Cys)
c.1807A>T (p.Ser603Cys)
11g.66560574G>ACA381447022ACTN3c.1679G>A (p.Ser560Asn)
c.1808G>A (p.Ser603Asn)
11g.66560574G>CCA381447026ACTN3c.1679G>C (p.Ser560Thr)
c.1808G>C (p.Ser603Thr)
11g.66560574G>TCA381447028ACTN3c.1679G>T (p.Ser560Ile)
c.1808G>T (p.Ser603Ile)
 gnomAD v4
11g.66560575C>ACA381447032ACTN3c.1680C>A (p.Ser560Arg)
c.1809C>A (p.Ser603Arg)
 gnomAD v4
11g.66560575C>GCA381447034ACTN3c.1680C>G (p.Ser560Arg)
c.1809C>G (p.Ser603Arg)
 gnomAD v4
11g.66560575C>TCA475494301ACTN3c.1680C>T (p.Ser560=)
c.1809C>T (p.Ser603=)
 dbSNP gnomAD v4
11g.66560576C>ACA381447040ACTN3c.1681C>A (p.Leu561Met)
c.1810C>A (p.Leu604Met)
 gnomAD v4
11g.66560576C>GCA381447043ACTN3c.1681C>G (p.Leu561Val)
c.1810C>G (p.Leu604Val)
11g.66560576C>TCA475494302ACTN3c.1681C>T (p.Leu561=)
c.1810C>T (p.Leu604=)
11g.66560577T>ACA381447051ACTN3c.1682T>A (p.Leu561Gln)
c.1811T>A (p.Leu604Gln)
11g.66560577T>CCA381447058ACTN3c.1682T>C (p.Leu561Pro)
c.1811T>C (p.Leu604Pro)
11g.66560577T>GCA381447061ACTN3c.1682T>G (p.Leu561Arg)
c.1811T>G (p.Leu604Arg)
11g.66560578G>ACA475494309ACTN3c.1683G>A (p.Leu561=)
c.1812G>A (p.Leu604=)
 gnomAD v4
11g.66560578G>CCA475494311ACTN3c.1683G>C (p.Leu561=)
c.1812G>C (p.Leu604=)
11g.66560578G>TCA475494310ACTN3c.1683G>T (p.Leu561=)
c.1812G>T (p.Leu604=)
11g.66560579C>ACA381447066ACTN3c.1684C>A (p.Leu562Met)
c.1813C>A (p.Leu605Met)
11g.66560579C>GCA381447075ACTN3c.1684C>G (p.Leu562Val)
c.1813C>G (p.Leu605Val)
11g.66560579C>TCA475494312ACTN3c.1684C>T (p.Leu562=)
c.1813C>T (p.Leu605=)
 gnomAD v4
11g.66560580T>ACA381447080ACTN3c.1685T>A (p.Leu562Gln)
c.1814T>A (p.Leu605Gln)
11g.66560580T>CCA381447086ACTN3c.1685T>C (p.Leu562Pro)
c.1814T>C (p.Leu605Pro)
11g.66560580T>GCA381447084ACTN3c.1685T>G (p.Leu562Arg)
c.1814T>G (p.Leu605Arg)
11g.66560581G>ACA475494316ACTN3c.1686G>A (p.Leu562=)
c.1815G>A (p.Leu605=)
 COSMIC
11g.66560581G>CCA475494317ACTN3c.1686G>C (p.Leu562=)
c.1815G>C (p.Leu605=)
11g.66560581G>TCA475494318ACTN3c.1686G>T (p.Leu562=)
c.1815G>T (p.Leu605=)
11g.66560582A>CCA381447088ACTN3c.1687A>C (p.Thr563Pro)
c.1816A>C (p.Thr606Pro)
11g.66560582A>GCA381447093ACTN3c.1687A>G (p.Thr563Ala)
c.1816A>G (p.Thr606Ala)
11g.66560582A>TCA381447091ACTN3c.1687A>T (p.Thr563Ser)
c.1816A>T (p.Thr606Ser)
11g.66560583C>ACA381447097ACTN3c.1688C>A (p.Thr563Lys)
c.1817C>A (p.Thr606Lys)
 gnomAD v4
11g.66560583C>GCA381447100ACTN3c.1688C>G (p.Thr563Arg)
c.1817C>G (p.Thr606Arg)
11g.66560583C>TCA381447104ACTN3c.1688C>T (p.Thr563Ile)
c.1817C>T (p.Thr606Ile)
 gnomAD v4
11g.66560584A=CA1979721256ACTN3c.1689A= (p.Thr563=)
c.1818A= (p.Thr606=)
11g.66560584A>CCA475494320ACTN3c.1689A>C (p.Thr563=)
c.1818A>C (p.Thr606=)
11g.66560584A>GCA6124829ACTN3c.1689A>G (p.Thr563=)
c.1818A>G (p.Thr606=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66560584A>TCA475494321ACTN3c.1689A>T (p.Thr563=)
c.1818A>T (p.Thr606=)
11g.66560585G>ACA381447122ACTN3c.1690G>A (p.Ala564Thr)
c.1819G>A (p.Ala607Thr)
11g.66560585G>CCA381447125ACTN3c.1690G>C (p.Ala564Pro)
c.1819G>C (p.Ala607Pro)
11g.66560585G>TCA381447129ACTN3c.1690G>T (p.Ala564Ser)
c.1819G>T (p.Ala607Ser)
11g.66560586C>ACA381447133ACTN3c.1691C>A (p.Ala564Glu)
c.1820C>A (p.Ala607Glu)
 COSMIC
11g.66560586C=CA1979721261ACTN3c.1691C= (p.Ala564=)
c.1820C= (p.Ala607=)
11g.66560586C>GCA381447137ACTN3c.1691C>G (p.Ala564Gly)
c.1820C>G (p.Ala607Gly)
11g.66560586C>TCA6124830ACTN3c.1691C>T (p.Ala564Val)
c.1820C>T (p.Ala607Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.66560587G>ACA6124831ACTN3c.1692G>A (p.Ala564=)
c.1821G>A (p.Ala607=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66560587G>CCA475494323ACTN3c.1692G>C (p.Ala564=)
c.1821G>C (p.Ala607=)
11g.66560587G=CA1979721264ACTN3c.1692G= (p.Ala564=)
c.1821G= (p.Ala607=)
11g.66560587G>TCA475494324ACTN3c.1692G>T (p.Ala564=)
c.1821G>T (p.Ala607=)
11g.66560588C>ACA381447153ACTN3c.1693C>A (p.His565Asn)
c.1822C>A (p.His608Asn)
 gnomAD v4
11g.66560588C=CA1979721272ACTN3c.1693C= (p.His565=)
c.1822C= (p.His608=)
11g.66560588C>GCA381447149ACTN3c.1693C>G (p.His565Asp)
c.1822C>G (p.His608Asp)
 dbSNP
11g.66560588C>TCA381447146ACTN3c.1693C>T (p.His565Tyr)
c.1822C>T (p.His608Tyr)
11g.66560589A=CA1979721277ACTN3c.1694A= (p.His565=)
c.1823A= (p.His608=)
11g.66560589A>CCA381447156ACTN3c.1694A>C (p.His565Pro)
c.1823A>C (p.His608Pro)
11g.66560589A>GCA6124832ACTN3c.1694A>G (p.His565Arg)
c.1823A>G (p.His608Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66560589A>TCA381447160ACTN3c.1694A>T (p.His565Leu)
c.1823A>T (p.His608Leu)
11g.66560590C>ACA381447170ACTN3c.1695C>A (p.His565Gln)
c.1824C>A (p.His608Gln)
 gnomAD v4
11g.66560590C=CA1979721280ACTN3c.1695C= (p.His565=)
c.1824C= (p.His608=)
11g.66560590C>GCA381447173ACTN3c.1695C>G (p.His565Gln)
c.1824C>G (p.His608Gln)
 gnomAD v4
11g.66560590C>TCA6124833ACTN3c.1695C>T (p.His565=)
c.1824C>T (p.His608=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66560591G>ACA6124834ACTN3c.1696G>A (p.Asp566Asn)
c.1825G>A (p.Asp609Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.66560591G>CCA224075860ACTN3c.1696G>C (p.Asp566His)
c.1825G>C (p.Asp609His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.66560591G=CA1979721285ACTN3c.1696G= (p.Asp566=)
c.1825G= (p.Asp609=)
11g.66560591G>TCA381447181ACTN3c.1696G>T (p.Asp566Tyr)
c.1825G>T (p.Asp609Tyr)
 gnomAD v4
11g.66560592A>CCA381447185ACTN3c.1697A>C (p.Asp566Ala)
c.1826A>C (p.Asp609Ala)
11g.66560592A>GCA381447192ACTN3c.1697A>G (p.Asp566Gly)
c.1826A>G (p.Asp609Gly)
11g.66560592A>TCA381447197ACTN3c.1697A>T (p.Asp566Val)
c.1826A>T (p.Asp609Val)
11g.66560593T>ACA381447202ACTN3c.1698T>A (p.Asp566Glu)
c.1827T>A (p.Asp609Glu)
11g.66560593T>CCA475494330ACTN3c.1698T>C (p.Asp566=)
c.1827T>C (p.Asp609=)
11g.66560593T>GCA381447206ACTN3c.1698T>G (p.Asp566Glu)
c.1827T>G (p.Asp609Glu)
11g.66560594C>ACA381447210ACTN3c.1699C>A (p.Gln567Lys)
c.1828C>A (p.Gln610Lys)
11g.66560594C>GCA381447213ACTN3c.1699C>G (p.Gln567Glu)
c.1828C>G (p.Gln610Glu)
11g.66560594C>TCA381447214ACTN3c.1699C>T (p.Gln567Ter)
c.1828C>T (p.Gln610Ter)
11g.66560595A>CCA381447221ACTN3c.1700A>C (p.Gln567Pro)
c.1829A>C (p.Gln610Pro)
11g.66560595A>GCA381447224ACTN3c.1700A>G (p.Gln567Arg)
c.1829A>G (p.Gln610Arg)
11g.66560595A>TCA381447226ACTN3c.1700A>T (p.Gln567Leu)
c.1829A>T (p.Gln610Leu)
11g.66560596G>ACA475494332ACTN3c.1701G>A (p.Gln567=)
c.1830G>A (p.Gln610=)
11g.66560596G>CCA381447227ACTN3c.1701G>C (p.Gln567His)
c.1830G>C (p.Gln610His)
11g.66560596G>TCA381447229ACTN3c.1701G>T (p.Gln567His)
c.1830G>T (p.Gln610His)
11g.66560597T>ACA381447231ACTN3c.1702T>A (p.Phe568Ile)
c.1831T>A (p.Phe611Ile)
11g.66560597T>CCA6124835ACTN3c.1702T>C (p.Phe568Leu)
c.1831T>C (p.Phe611Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.66560597T>GCA381447240ACTN3c.1702T>G (p.Phe568Val)
c.1831T>G (p.Phe611Val)
11g.66560597T=CA1979721297ACTN3c.1702T= (p.Phe568=)
c.1831T= (p.Phe611=)
11g.66560598T>ACA381447241ACTN3c.1703T>A (p.Phe568Tyr)
c.1832T>A (p.Phe611Tyr)
11g.66560598T>CCA381447242ACTN3c.1703T>C (p.Phe568Ser)
c.1832T>C (p.Phe611Ser)
11g.66560598T>GCA381447243ACTN3c.1703T>G (p.Phe568Cys)
c.1832T>G (p.Phe611Cys)
11g.66560599C>ACA381447246ACTN3c.1704C>A (p.Phe568Leu)
c.1833C>A (p.Phe611Leu)
11g.66560599C>GCA381447247ACTN3c.1704C>G (p.Phe568Leu)
c.1833C>G (p.Phe611Leu)
11g.66560599C>TCA475494335ACTN3c.1704C>T (p.Phe568=)
c.1833C>T (p.Phe611=)
11g.66560600A>CCA381447252ACTN3c.1705A>C (p.Lys569Gln)
c.1834A>C (p.Lys612Gln)
11g.66560600A>GCA381447255ACTN3c.1705A>G (p.Lys569Glu)
c.1834A>G (p.Lys612Glu)
11g.66560600A>TCA381447256ACTN3c.1705A>T (p.Lys569Ter)
c.1834A>T (p.Lys612Ter)
11g.66560601A>CCA381447263ACTN3c.1706A>C (p.Lys569Thr)
c.1835A>C (p.Lys612Thr)
11g.66560601A>GCA381447266ACTN3c.1706A>G (p.Lys569Arg)
c.1835A>G (p.Lys612Arg)
11g.66560601A>TCA381447268ACTN3c.1706A>T (p.Lys569Met)
c.1835A>T (p.Lys612Met)
11g.66560602G>ACA1979721309ACTN3c.1707G>A (p.Lys569=)
c.1836G>A (p.Lys612=)
 dbSNP gnomAD v4
11g.66560602G>CCA381447270ACTN3c.1707G>C (p.Lys569Asn)
c.1836G>C (p.Lys612Asn)
11g.66560602G=CA1979721305ACTN3c.1707G= (p.Lys569=)
c.1836G= (p.Lys612=)
11g.66560602G>TCA381447273ACTN3c.1707G>T (p.Lys569Asn)
c.1836G>T (p.Lys612Asn)
 gnomAD v4
11g.66560603G>ACA381447277ACTN3c.1708G>A (p.Ala570Thr)
c.1837G>A (p.Ala613Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.66560603G>CCA381447279ACTN3c.1708G>C (p.Ala570Pro)
c.1837G>C (p.Ala613Pro)
11g.66560603G=CA1979721316ACTN3c.1708G= (p.Ala570=)
c.1837G= (p.Ala613=)
11g.66560603G>TCA381447281ACTN3c.1708G>T (p.Ala570Ser)
c.1837G>T (p.Ala613Ser)
11g.66560604C>ACA381447292ACTN3c.1709C>A (p.Ala570Glu)
c.1838C>A (p.Ala613Glu)
 dbSNP gnomAD v3 gnomAD v4
11g.66560604C=CA1979721321ACTN3c.1709C= (p.Ala570=)
c.1838C= (p.Ala613=)
11g.66560604C>GCA381447289ACTN3c.1709C>G (p.Ala570Gly)
c.1838C>G (p.Ala613Gly)
11g.66560604C>TCA381447285ACTN3c.1709C>T (p.Ala570Val)
c.1838C>T (p.Ala613Val)
11g.66560606A>CCA381447295ACTN3c.1711A>C (p.Thr571Pro)
c.1840A>C (p.Thr614Pro)
11g.66560606A>GCA381447301ACTN3c.1711A>G (p.Thr571Ala)
c.1840A>G (p.Thr614Ala)
11g.66560606A>TCA381447298ACTN3c.1711A>T (p.Thr571Ser)
c.1840A>T (p.Thr614Ser)
11g.66560607C>ACA381447307ACTN3c.1712C>A (p.Thr571Lys)
c.1841C>A (p.Thr614Lys)
11g.66560607C=CA1979721329ACTN3c.1712C= (p.Thr571=)
c.1841C= (p.Thr614=)
11g.66560607C>GCA381447312ACTN3c.1712C>G (p.Thr571Arg)
c.1841C>G (p.Thr614Arg)
11g.66560607C>TCA381447309ACTN3c.1712C>T (p.Thr571Ile)
c.1841C>T (p.Thr614Ile)
 dbSNP
11g.66560608A>GCA2614514205ACTN3c.1713A>G (p.Thr571=)
c.1842A>G (p.Thr614=)
 gnomAD v4
11g.66560609C>ACA381447314ACTN3c.1714C>A (p.Leu572Met)
c.1843C>A (p.Leu615Met)
11g.66560609C=CA1979721330ACTN3c.1714C= (p.Leu572=)
c.1843C= (p.Leu615=)
11g.66560609C>GCA6124836ACTN3c.1714C>G (p.Leu572Val)
c.1843C>G (p.Leu615Val)
 dbSNP gnomAD v4
11g.66560609C>TCA2724203670ACTN3c.1714C>T (p.Leu572=)
c.1843C>T (p.Leu615=)
 dbSNP
11g.66560610T>ACA381447320ACTN3c.1715T>A (p.Leu572Gln)
c.1844T>A (p.Leu615Gln)
11g.66560610T>CCA381447324ACTN3c.1715T>C (p.Leu572Pro)
c.1844T>C (p.Leu615Pro)
11g.66560610T>GCA381447326ACTN3c.1715T>G (p.Leu572Arg)
c.1844T>G (p.Leu615Arg)
11g.66560611G>ACA2614514213ACTN3c.1716G>A (p.Leu572=)
c.1845G>A (p.Leu615=)
 gnomAD v4
11g.66560612C>ACA381447328ACTN3c.1717C>A (p.Pro573Thr)
c.1846C>A (p.Pro616Thr)
 gnomAD v4
11g.66560612C=CA1979721334ACTN3c.1717C= (p.Pro573=)
c.1846C= (p.Pro616=)
11g.66560612C>GCA381447331ACTN3c.1717C>G (p.Pro573Ala)
c.1846C>G (p.Pro616Ala)
 dbSNP gnomAD v4
11g.66560612C>TCA381447334ACTN3c.1717C>T (p.Pro573Ser)
c.1846C>T (p.Pro616Ser)
 dbSNP gnomAD v3 gnomAD v4
11g.66560614delCA2614514217ACTN3c.1719del (p.Glu574ArgfsTer?)
c.1848del (p.Glu617ArgfsTer?)
 gnomAD v4
11g.66560613C>ACA381447338ACTN3c.1718C>A (p.Pro573His)
c.1847C>A (p.Pro616His)
11g.66560613C>GCA381447339ACTN3c.1718C>G (p.Pro573Arg)
c.1847C>G (p.Pro616Arg)
11g.66560613C>TCA381447340ACTN3c.1718C>T (p.Pro573Leu)
c.1847C>T (p.Pro616Leu)
11g.66560614C=CA1979721335ACTN3c.1719C= (p.Pro573=)
c.1848C= (p.Pro616=)
11g.66560614C>TCA6124837ACTN3c.1719C>T (p.Pro573=)
c.1848C>T (p.Pro616=)
 dbSNP gnomAD v3 gnomAD v4
11g.66560615G>ACA6124838ACTN3c.1720G>A (p.Glu574Lys)
c.1849G>A (p.Glu617Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.66560615G>CCA381447343ACTN3c.1720G>C (p.Glu574Gln)
c.1849G>C (p.Glu617Gln)
11g.66560615G=CA1979721341ACTN3c.1720G= (p.Glu574=)
c.1849G= (p.Glu617=)
11g.66560615G>TCA381447346ACTN3c.1720G>T (p.Glu574Ter)
c.1849G>T (p.Glu617Ter)
11g.66560616A=CA1979721364ACTN3c.1721A= (p.Glu574=)
c.1850A= (p.Glu617=)
11g.66560616A>CCA381447354ACTN3c.1721A>C (p.Glu574Ala)
c.1850A>C (p.Glu617Ala)
11g.66560616A>GCA381447360ACTN3c.1721A>G (p.Glu574Gly)
c.1850A>G (p.Glu617Gly)
 dbSNP gnomAD v4
11g.66560616A>TCA381447363ACTN3c.1721A>T (p.Glu574Val)
c.1850A>T (p.Glu617Val)
 gnomAD v4
11g.66560617G>ACA2614514231ACTN3c.1722G>A (p.Glu574=)
c.1851G>A (p.Glu617=)
 gnomAD v4
11g.66560617G>CCA381447371ACTN3c.1722G>C (p.Glu574Asp)
c.1851G>C (p.Glu617Asp)
11g.66560617G>TCA381447373ACTN3c.1722G>T (p.Glu574Asp)
c.1851G>T (p.Glu617Asp)
11g.66560618G>ACA381447376ACTN3c.1723G>A (p.Ala575Thr)
c.1852G>A (p.Ala618Thr)
11g.66560618G>CCA381447379ACTN3c.1723G>C (p.Ala575Pro)
c.1852G>C (p.Ala618Pro)
11g.66560618G>TCA381447382ACTN3c.1723G>T (p.Ala575Ser)
c.1852G>T (p.Ala618Ser)
11g.66560619C>ACA381447385ACTN3c.1724C>A (p.Ala575Asp)
c.1853C>A (p.Ala618Asp)
 gnomAD v4
11g.66560619C=CA1979721367ACTN3c.1724C= (p.Ala575=)
c.1853C= (p.Ala618=)
11g.66560619C>GCA381447388ACTN3c.1724C>G (p.Ala575Gly)
c.1853C>G (p.Ala618Gly)
11g.66560619C>TCA381447390ACTN3c.1724C>T (p.Ala575Val)
c.1853C>T (p.Ala618Val)
 dbSNP gnomAD v4
11g.66560620T>CCA2528979120ACTN3c.1725T>C (p.Ala575=)
c.1854T>C (p.Ala618=)
11g.66560620_66560624delinsTGACCCA1979721369ACTN3c.1725_1729delinsTGACC (p.Ala575=)
c.1854_1858delinsTGACC (p.Ala618=)
11g.66560621G>ACA381447397ACTN3c.1726G>A (p.Asp576Asn)
c.1855G>A (p.Asp619Asn)
 gnomAD v4
11g.66560621G>CCA6124839ACTN3c.1726G>C (p.Asp576His)
c.1855G>C (p.Asp619His)
 dbSNP gnomAD v3 gnomAD v4
11g.66560621G=CA1979721377ACTN3c.1726G= (p.Asp576=)
c.1855G= (p.Asp619=)
11g.66560621G>TCA381447393ACTN3c.1726G>T (p.Asp576Tyr)
c.1855G>T (p.Asp619Tyr)
11g.66560623_66560626delCA1979721374ACTN3c.1728_1731del (p.Asp576GlufsTer?)
c.1857_1860del (p.Asp619GlufsTer?)
 dbSNP
11g.66560622A>CCA381447405ACTN3c.1727A>C (p.Asp576Ala)
c.1856A>C (p.Asp619Ala)
11g.66560622A>GCA381447401ACTN3c.1727A>G (p.Asp576Gly)
c.1856A>G (p.Asp619Gly)
11g.66560622A>TCA381447402ACTN3c.1727A>T (p.Asp576Val)
c.1856A>T (p.Asp619Val)
11g.66560623C>ACA381447407ACTN3c.1728C>A (p.Asp576Glu)
c.1857C>A (p.Asp619Glu)
11g.66560623C>GCA381447408ACTN3c.1728C>G (p.Asp576Glu)
c.1857C>G (p.Asp619Glu)
11g.66560623C>TCA2567040692ACTN3c.1728C>T (p.Asp576=)
c.1857C>T (p.Asp619=)
11g.66560624C>ACA1979721384ACTN3c.1729C>A (p.Arg577=)
c.1858C>A (p.Arg620=)
 dbSNP
11g.66560624C=CA6124840ACTN3c.1729C= (p.Arg577=)
c.1858C= (p.Arg620=)
11g.66560624C>GCA381447409ACTN3c.1729C>G (p.Arg577Gly)
c.1858C>G (p.Arg620Gly)
11g.66560624C>TCA128040ACTN3c.1729C>T (p.Arg577Ter)
c.1858C>T (p.Arg620Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.66560625G>ACA224075870ACTN3c.1730G>A (p.Arg577Gln)
c.1859G>A (p.Arg620Gln)
 dbSNP gnomAD v4
11g.66560625G>CCA381447411ACTN3c.1730G>C (p.Arg577Pro)
c.1859G>C (p.Arg620Pro)
11g.66560625G=CA1979721388ACTN3c.1730G= (p.Arg577=)
c.1859G= (p.Arg620=)
11g.66560625G>TCA381447412ACTN3c.1730G>T (p.Arg577Leu)
c.1859G>T (p.Arg620Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.66560626A>CCA2614514250ACTN3c.1731A>C (p.Arg577=)
c.1860A>C (p.Arg620=)
 gnomAD v4
11g.66560627G>ACA381447414ACTN3c.1732G>A (p.Glu578Lys)
c.1861G>A (p.Glu621Lys)
 dbSNP gnomAD v4
11g.66560627G>CCA381447415ACTN3c.1732G>C (p.Glu578Gln)
c.1861G>C (p.Glu621Gln)
 dbSNP gnomAD v4
11g.66560627G=CA1979721400ACTN3c.1732G= (p.Glu578=)
c.1861G= (p.Glu621=)
11g.66560627G>TCA381447418ACTN3c.1732G>T (p.Glu578Ter)
c.1861G>T (p.Glu621Ter)
11g.66560628A>CCA381447425ACTN3c.1733A>C (p.Glu578Ala)
c.1862A>C (p.Glu621Ala)
 gnomAD v4
11g.66560628A>GCA381447424ACTN3c.1733A>G (p.Glu578Gly)
c.1862A>G (p.Glu621Gly)
 gnomAD v4
11g.66560628A>TCA381447422ACTN3c.1733A>T (p.Glu578Val)
c.1862A>T (p.Glu621Val)
11g.66560629G>CCA381447433ACTN3c.1734G>C (p.Glu578Asp)
c.1863G>C (p.Glu621Asp)
11g.66560629G>TCA381447434ACTN3c.1734G>T (p.Glu578Asp)
c.1863G>T (p.Glu621Asp)
11g.66560630C>ACA224075875ACTN3c.1735C>A (p.Arg579=)
c.1864C>A (p.Arg622=)
 dbSNP gnomAD v3 gnomAD v4
11g.66560630C=CA1979721404ACTN3c.1735C= (p.Arg579=)
c.1864C= (p.Arg622=)
11g.66560630C>GCA381447435ACTN3c.1735C>G (p.Arg579Gly)
c.1864C>G (p.Arg622Gly)
11g.66560630C>TCA6124841ACTN3c.1735C>T (p.Arg579Ter)
c.1864C>T (p.Arg622Ter)
 dbSNP gnomAD v3 gnomAD v4
11g.66560631G>ACA6124842ACTN3c.1736G>A (p.Arg579Gln)
c.1865G>A (p.Arg622Gln)
 dbSNP gnomAD v3 gnomAD v4
11g.66560631G>CCA381447442ACTN3c.1736G>C (p.Arg579Pro)
c.1865G>C (p.Arg622Pro)
11g.66560631G=CA1979721410ACTN3c.1736G= (p.Arg579=)
c.1865G= (p.Arg622=)
11g.66560631G>TCA381447445ACTN3c.1736G>T (p.Arg579Leu)
c.1865G>T (p.Arg622Leu)
11g.66560632A>GCA2500689828ACTN3c.1737A>G (p.Arg579=)
c.1866A>G (p.Arg622=)
11g.66560633G>ACA381447448ACTN3c.1738G>A (p.Gly580Ser)
c.1867G>A (p.Gly623Ser)
 gnomAD v4
11g.66560633G>CCA381447451ACTN3c.1738G>C (p.Gly580Arg)
c.1867G>C (p.Gly623Arg)
11g.66560633G>TCA381447457ACTN3c.1738G>T (p.Gly580Cys)
c.1867G>T (p.Gly623Cys)
11g.66560634G>ACA381447459ACTN3c.1739G>A (p.Gly580Asp)
c.1868G>A (p.Gly623Asp)
 dbSNP gnomAD v4
11g.66560634G>CCA381447462ACTN3c.1739G>C (p.Gly580Ala)
c.1868G>C (p.Gly623Ala)
11g.66560634G=CA1979721415ACTN3c.1739G= (p.Gly580=)
c.1868G= (p.Gly623=)
11g.66560634G>TCA381447463ACTN3c.1739G>T (p.Gly580Val)
c.1868G>T (p.Gly623Val)
11g.66560636G>ACA6124843ACTN3c.1741G>A (p.Ala581Thr)
c.1870G>A (p.Ala624Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.66560636G>CCA381447471ACTN3c.1741G>C (p.Ala581Pro)
c.1870G>C (p.Ala624Pro)
11g.66560636G=CA1979721418ACTN3c.1741G= (p.Ala581=)
c.1870G= (p.Ala624=)
11g.66560636G>TCA381447465ACTN3c.1741G>T (p.Ala581Ser)
c.1870G>T (p.Ala624Ser)
11g.66560637C>ACA381447477ACTN3c.1742C>A (p.Ala581Asp)
c.1871C>A (p.Ala624Asp)
 gnomAD v4
11g.66560637C>GCA381447482ACTN3c.1742C>G (p.Ala581Gly)
c.1871C>G (p.Ala624Gly)
11g.66560637C>TCA381447479ACTN3c.1742C>T (p.Ala581Val)
c.1871C>T (p.Ala624Val)
11g.66560638dupCA2614514272ACTN3c.1743dup (p.Ile582HisfsTer7)
c.1872dup (p.Ile625HisfsTer7)
 gnomAD v4
11g.66560638C=CA1979721420ACTN3c.1743C= (p.Ala581=)
c.1872C= (p.Ala624=)
11g.66560638C>GCA1979721422ACTN3c.1743C>G (p.Ala581=)
c.1872C>G (p.Ala624=)
 dbSNP
11g.66560639A>CCA381447484ACTN3c.1744A>C (p.Ile582Leu)
c.1873A>C (p.Ile625Leu)
11g.66560639A>GCA381447486ACTN3c.1744A>G (p.Ile582Val)
c.1873A>G (p.Ile625Val)
11g.66560639A>TCA381447489ACTN3c.1744A>T (p.Ile582Phe)
c.1873A>T (p.Ile625Phe)
11g.66560640T>ACA381447491ACTN3c.1745T>A (p.Ile582Asn)
c.1874T>A (p.Ile625Asn)
11g.66560640T>CCA381447493ACTN3c.1745T>C (p.Ile582Thr)
c.1874T>C (p.Ile625Thr)
11g.66560640T>GCA381447497ACTN3c.1745T>G (p.Ile582Ser)
c.1874T>G (p.Ile625Ser)
11g.66560641C>GCA381447500ACTN3c.1746C>G (p.Ile582Met)
c.1875C>G (p.Ile625Met)
11g.66560642A=CA1979721424ACTN3c.1747A= (p.Met583=)
c.1876A= (p.Met626=)
11g.66560642A>CCA381447502ACTN3c.1747A>C (p.Met583Leu)
c.1876A>C (p.Met626Leu)
11g.66560642A>GCA224075877ACTN3c.1747A>G (p.Met583Val)
c.1876A>G (p.Met626Val)
 dbSNP gnomAD v3 gnomAD v4
11g.66560642A>TCA381447512ACTN3c.1747A>T (p.Met583Leu)
c.1876A>T (p.Met626Leu)
11g.66560643T>ACA381447516ACTN3c.1748T>A (p.Met583Lys)
c.1877T>A (p.Met626Lys)
11g.66560643T>CCA381447518ACTN3c.1748T>C (p.Met583Thr)
c.1877T>C (p.Met626Thr)
 gnomAD v4
11g.66560643T>GCA381447520ACTN3c.1748T>G (p.Met583Arg)
c.1877T>G (p.Met626Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.66560643T=CA1979721429ACTN3c.1748T= (p.Met583=)
c.1877T= (p.Met626=)
11g.66560644G>ACA381447524ACTN3c.1749G>A (p.Met583Ile)
c.1878G>A (p.Met626Ile)
 dbSNP
11g.66560644G>CCA381447529ACTN3c.1749G>C (p.Met583Ile)
c.1878G>C (p.Met626Ile)
 dbSNP gnomAD v4
11g.66560644G=CA1979721436ACTN3c.1749G= (p.Met583=)
c.1878G= (p.Met626=)
11g.66560644G>TCA381447526ACTN3c.1749G>T (p.Met583Ile)
c.1878G>T (p.Met626Ile)
11g.66560645G>ACA381447531ACTN3c.1750G>A (p.Gly584Ser)
c.1879G>A (p.Gly627Ser)
 dbSNP gnomAD v3 gnomAD v4
11g.66560645G>CCA381447533ACTN3c.1750G>C (p.Gly584Arg)
c.1879G>C (p.Gly627Arg)
11g.66560645G=CA1979721437ACTN3c.1750G= (p.Gly584=)
c.1879G= (p.Gly627=)
11g.66560645G>TCA381447535ACTN3c.1750G>T (p.Gly584Cys)
c.1879G>T (p.Gly627Cys)
 gnomAD v4
11g.66560646G>ACA381447538ACTN3c.1751G>A (p.Gly584Asp)
c.1880G>A (p.Gly627Asp)
 dbSNP gnomAD v3 gnomAD v4
11g.66560646G>CCA381447540ACTN3c.1751G>C (p.Gly584Ala)
c.1880G>C (p.Gly627Ala)
11g.66560646G=CA1979721439ACTN3c.1751G= (p.Gly584=)
c.1880G= (p.Gly627=)
11g.66560646G>TCA381447542ACTN3c.1751G>T (p.Gly584Val)
c.1880G>T (p.Gly627Val)

Number of alleles fetched