Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.66560707T>A | CA381447919 | ACTN3 | c.1812T>A (p.Asn604Lys) c.1941T>A (p.Asn647Lys) | |
11 | g.66560707T>C | CA475494428 | ACTN3 | c.1812T>C (p.Asn604=) c.1941T>C (p.Asn647=) | gnomAD v4 |
11 | g.66560707T>G | CA381447920 | ACTN3 | c.1812T>G (p.Asn604Lys) c.1941T>G (p.Asn647Lys) | |
11 | g.66560708C>A | CA381447921 | ACTN3 | c.1813C>A (p.Pro605Thr) c.1942C>A (p.Pro648Thr) | |
11 | g.66560708C>G | CA381447922 | ACTN3 | c.1813C>G (p.Pro605Ala) c.1942C>G (p.Pro648Ala) | |
11 | g.66560708C>T | CA381447923 | ACTN3 | c.1813C>T (p.Pro605Ser) c.1942C>T (p.Pro648Ser) | |
11 | g.66560709C>A | CA381447925 | ACTN3 | c.1814C>A (p.Pro605His) c.1943C>A (p.Pro648His) | |
11 | g.66560709C= | CA1979721613 | ACTN3 | c.1814C= (p.Pro605=) c.1943C= (p.Pro648=) | |
11 | g.66560709C>G | CA6124858 | ACTN3 | c.1814C>G (p.Pro605Arg) c.1943C>G (p.Pro648Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66560709C>T | CA381447926 | ACTN3 | c.1814C>T (p.Pro605Leu) c.1943C>T (p.Pro648Leu) | |
11 | g.66560710C>A | CA475494432 | ACTN3 | c.1815C>A (p.Pro605=) c.1944C>A (p.Pro648=) | |
11 | g.66560710C>G | CA475494434 | ACTN3 | c.1815C>G (p.Pro605=) c.1944C>G (p.Pro648=) | |
11 | g.66560710C>T | CA475494433 | ACTN3 | c.1815C>T (p.Pro605=) c.1944C>T (p.Pro648=) | gnomAD v4 |
11 | g.66560711T>A | CA381447930 | ACTN3 | c.1816T>A (p.Tyr606Asn) c.1945T>A (p.Tyr649Asn) | |
11 | g.66560711T>C | CA381447932 | ACTN3 | c.1816T>C (p.Tyr606His) c.1945T>C (p.Tyr649His) | |
11 | g.66560711T>G | CA381447934 | ACTN3 | c.1816T>G (p.Tyr606Asp) c.1945T>G (p.Tyr649Asp) | |
11 | g.66560712A>C | CA381447936 | ACTN3 | c.1817A>C (p.Tyr606Ser) c.1946A>C (p.Tyr649Ser) | |
11 | g.66560712A>G | CA381447938 | ACTN3 | c.1817A>G (p.Tyr606Cys) c.1946A>G (p.Tyr649Cys) | |
11 | g.66560712A>T | CA381447940 | ACTN3 | c.1817A>T (p.Tyr606Phe) c.1946A>T (p.Tyr649Phe) | |
11 | g.66560714_66560718dup | CA2598282066 | ACTN3 | c.1819_1823dup (p.Leu609SerfsTer?) c.1948_1952dup (p.Leu652SerfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.66560712_66560713insACACACC | CA2792479681 | ACTN3 | c.1817_1818insACACACC (p.Tyr606Ter) c.1946_1947insACACACC (p.Tyr649Ter) | |
11 | g.66560713del | CA2551857576 | ACTN3 | c.1818del (p.Tyr606Ter) c.1947del (p.Tyr649Ter) | |
11 | g.66560713C>A | CA381447942 | ACTN3 | c.1818C>A (p.Tyr606Ter) c.1947C>A (p.Tyr649Ter) | |
11 | g.66560713C>G | CA381447944 | ACTN3 | c.1818C>G (p.Tyr606Ter) c.1947C>G (p.Tyr649Ter) | gnomAD v4 |
11 | g.66560713C>T | CA475494437 | ACTN3 | c.1818C>T (p.Tyr606=) c.1947C>T (p.Tyr649=) | gnomAD v4 |
11 | g.66560714A>C | CA381447947 | ACTN3 | c.1819A>C (p.Ile607Leu) c.1948A>C (p.Ile650Leu) | |
11 | g.66560714A>G | CA381447948 | ACTN3 | c.1819A>G (p.Ile607Val) c.1948A>G (p.Ile650Val) | |
11 | g.66560714A>T | CA381447950 | ACTN3 | c.1819A>T (p.Ile607Phe) c.1948A>T (p.Ile650Phe) | |
11 | g.66560715T>A | CA381447955 | ACTN3 | c.1820T>A (p.Ile607Asn) c.1949T>A (p.Ile650Asn) | |
11 | g.66560715T>C | CA381447952 | ACTN3 | c.1820T>C (p.Ile607Thr) c.1949T>C (p.Ile650Thr) | |
11 | g.66560715T>G | CA381447954 | ACTN3 | c.1820T>G (p.Ile607Ser) c.1949T>G (p.Ile650Ser) | |
11 | g.66560716C>A | CA475494441 | ACTN3 | c.1821C>A (p.Ile607=) c.1950C>A (p.Ile650=) | dbSNP |
11 | g.66560716C= | CA1979721622 | ACTN3 | c.1821C= (p.Ile607=) c.1950C= (p.Ile650=) | |
11 | g.66560716C>G | CA224075990 | ACTN3 | c.1821C>G (p.Ile607Met) c.1950C>G (p.Ile650Met) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.66560716C>T | CA475494443 | ACTN3 | c.1821C>T (p.Ile607=) c.1950C>T (p.Ile650=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.66560717A>C | CA381447960 | ACTN3 | c.1822A>C (p.Thr608Pro) c.1951A>C (p.Thr651Pro) | |
11 | g.66560717A>G | CA381447959 | ACTN3 | c.1822A>G (p.Thr608Ala) c.1951A>G (p.Thr651Ala) | |
11 | g.66560717A>T | CA381447962 | ACTN3 | c.1822A>T (p.Thr608Ser) c.1951A>T (p.Thr651Ser) | |
11 | g.66560718C>A | CA381447965 | ACTN3 | c.1823C>A (p.Thr608Asn) c.1952C>A (p.Thr651Asn) | |
11 | g.66560718C>G | CA381447968 | ACTN3 | c.1823C>G (p.Thr608Ser) c.1952C>G (p.Thr651Ser) | |
11 | g.66560718C>T | CA381447966 | ACTN3 | c.1823C>T (p.Thr608Ile) c.1952C>T (p.Thr651Ile) | |
11 | g.66560719C>A | CA475494445 | ACTN3 | c.1824C>A (p.Thr608=) c.1953C>A (p.Thr651=) | gnomAD v4 |
11 | g.66560719C= | CA1979721633 | ACTN3 | c.1824C= (p.Thr608=) c.1953C= (p.Thr651=) | |
11 | g.66560719C>G | CA475494446 | ACTN3 | c.1824C>G (p.Thr608=) c.1953C>G (p.Thr651=) | |
11 | g.66560719C>T | CA475494447 | ACTN3 | c.1824C>T (p.Thr608=) c.1953C>T (p.Thr651=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66560720C>A | CA381447970 | ACTN3 | c.1825C>A (p.Leu609Ile) c.1954C>A (p.Leu652Ile) | gnomAD v4 |
11 | g.66560720C>G | CA381447972 | ACTN3 | c.1825C>G (p.Leu609Val) c.1954C>G (p.Leu652Val) | |
11 | g.66560720C>T | CA381447974 | ACTN3 | c.1825C>T (p.Leu609Phe) c.1954C>T (p.Leu652Phe) | gnomAD v4 COSMIC |
11 | g.66560721T>A | CA381447976 | ACTN3 | c.1826T>A (p.Leu609His) c.1955T>A (p.Leu652His) | |
11 | g.66560721T>C | CA381447977 | ACTN3 | c.1826T>C (p.Leu609Pro) c.1955T>C (p.Leu652Pro) | |
11 | g.66560721T>G | CA381447979 | ACTN3 | c.1826T>G (p.Leu609Arg) c.1955T>G (p.Leu652Arg) | |
11 | g.66560722C>A | CA475494449 | ACTN3 | c.1827C>A (p.Leu609=) c.1956C>A (p.Leu652=) | gnomAD v4 |
11 | g.66560722C>G | CA475494450 | ACTN3 | c.1827C>G (p.Leu609=) c.1956C>G (p.Leu652=) | |
11 | g.66560722C>T | CA475494451 | ACTN3 | c.1827C>T (p.Leu609=) c.1956C>T (p.Leu652=) | gnomAD v4 |
11 | g.66560723A= | CA1979721641 | ACTN3 | c.1828A= (p.Ser610=) c.1957A= (p.Ser653=) | |
11 | g.66560723A>C | CA381447981 | ACTN3 | c.1828A>C (p.Ser610Arg) c.1957A>C (p.Ser653Arg) | |
11 | g.66560723A>G | CA381447983 | ACTN3 | c.1828A>G (p.Ser610Gly) c.1957A>G (p.Ser653Gly) | |
11 | g.66560723A>T | CA381447985 | ACTN3 | c.1828A>T (p.Ser610Cys) c.1957A>T (p.Ser653Cys) | dbSNP gnomAD v2 |
11 | g.66560724G>A | CA381447987 | ACTN3 | c.1829G>A (p.Ser610Asn) c.1958G>A (p.Ser653Asn) | gnomAD v4 |
11 | g.66560724G>C | CA381447989 | ACTN3 | c.1829G>C (p.Ser610Thr) c.1958G>C (p.Ser653Thr) | |
11 | g.66560724G>T | CA381447991 | ACTN3 | c.1829G>T (p.Ser610Ile) c.1958G>T (p.Ser653Ile) | |
11 | g.66560725C>A | CA381447993 | ACTN3 | c.1830C>A (p.Ser610Arg) c.1959C>A (p.Ser653Arg) | |
11 | g.66560725C>G | CA381447994 | ACTN3 | c.1830C>G (p.Ser610Arg) c.1959C>G (p.Ser653Arg) | |
11 | g.66560725C>T | CA475494453 | ACTN3 | c.1830C>T (p.Ser610=) c.1959C>T (p.Ser653=) | |
11 | g.66560726C>A | CA381447996 | ACTN3 | c.1831C>A (p.Pro611Thr) c.1960C>A (p.Pro654Thr) | |
11 | g.66560726C>G | CA381447997 | ACTN3 | c.1831C>G (p.Pro611Ala) c.1960C>G (p.Pro654Ala) | |
11 | g.66560726C>T | CA381447999 | ACTN3 | c.1831C>T (p.Pro611Ser) c.1960C>T (p.Pro654Ser) | |
11 | g.66560727C>A | CA381448001 | ACTN3 | c.1832C>A (p.Pro611Gln) c.1961C>A (p.Pro654Gln) | |
11 | g.66560727C= | CA1979721646 | ACTN3 | c.1832C= (p.Pro611=) c.1961C= (p.Pro654=) | |
11 | g.66560727C>G | CA381448002 | ACTN3 | c.1832C>G (p.Pro611Arg) c.1961C>G (p.Pro654Arg) | gnomAD v4 |
11 | g.66560727C>T | CA6124859 | ACTN3 | c.1832C>T (p.Pro611Leu) c.1961C>T (p.Pro654Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.66560728G>A | CA6124860 | ACTN3 | c.1833G>A (p.Pro611=) c.1962G>A (p.Pro654=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66560728G>C | CA475494458 | ACTN3 | c.1833G>C (p.Pro611=) c.1962G>C (p.Pro654=) | |
11 | g.66560728G= | CA1979721650 | ACTN3 | c.1833G= (p.Pro611=) c.1962G= (p.Pro654=) | |
11 | g.66560728G>T | CA475494456 | ACTN3 | c.1833G>T (p.Pro611=) c.1962G>T (p.Pro654=) | |
11 | g.66560729C>A | CA381448007 | ACTN3 | c.1834C>A (p.Gln612Lys) c.1963C>A (p.Gln655Lys) | |
11 | g.66560729C>G | CA381448009 | ACTN3 | c.1834C>G (p.Gln612Glu) c.1963C>G (p.Gln655Glu) | gnomAD v4 |
11 | g.66560729C>T | CA381448011 | ACTN3 | c.1834C>T (p.Gln612Ter) c.1963C>T (p.Gln655Ter) | gnomAD v4 |
11 | g.66560730A>C | CA381448012 | ACTN3 | c.1835A>C (p.Gln612Pro) c.1964A>C (p.Gln655Pro) | |
11 | g.66560730A>G | CA381448014 | ACTN3 | c.1835A>G (p.Gln612Arg) c.1964A>G (p.Gln655Arg) | |
11 | g.66560730A>T | CA381448015 | ACTN3 | c.1835A>T (p.Gln612Leu) c.1964A>T (p.Gln655Leu) | |
11 | g.66560731G>A | CA224075996 | ACTN3 | c.1836G>A (p.Gln612=) c.1965G>A (p.Gln655=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.66560731G>C | CA381448020 | ACTN3 | c.1836G>C (p.Gln612His) c.1965G>C (p.Gln655His) | |
11 | g.66560731G= | CA1979721656 | ACTN3 | c.1836G= (p.Gln612=) c.1965G= (p.Gln655=) | |
11 | g.66560731G>T | CA381448018 | ACTN3 | c.1836G>T (p.Gln612His) c.1965G>T (p.Gln655His) | |
11 | g.66560732G>A | CA381448023 | ACTN3 | c.1837G>A (p.Asp613Asn) c.1966G>A (p.Asp656Asn) | |
11 | g.66560732G>C | CA381448024 | ACTN3 | c.1837G>C (p.Asp613His) c.1966G>C (p.Asp656His) | |
11 | g.66560732G>T | CA381448026 | ACTN3 | c.1837G>T (p.Asp613Tyr) c.1966G>T (p.Asp656Tyr) | |
11 | g.66560733A>C | CA381448029 | ACTN3 | c.1838A>C (p.Asp613Ala) c.1967A>C (p.Asp656Ala) | |
11 | g.66560733A>G | CA381448030 | ACTN3 | c.1838A>G (p.Asp613Gly) c.1967A>G (p.Asp656Gly) | |
11 | g.66560733A>T | CA381448032 | ACTN3 | c.1838A>T (p.Asp613Val) c.1967A>T (p.Asp656Val) | |
11 | g.66560734C>A | CA381448034 | ACTN3 | c.1839C>A (p.Asp613Glu) c.1968C>A (p.Asp656Glu) | |
11 | g.66560734C= | CA1979721681 | ACTN3 | c.1839C= (p.Asp613=) c.1968C= (p.Asp656=) | |
11 | g.66560734C>G | CA381448036 | ACTN3 | c.1839C>G (p.Asp613Glu) c.1968C>G (p.Asp656Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66560734C>T | CA475494468 | ACTN3 | c.1839C>T (p.Asp613=) c.1968C>T (p.Asp656=) | |
11 | g.66560735A>C | CA381448039 | ACTN3 | c.1840A>C (p.Ile614Leu) c.1969A>C (p.Ile657Leu) | |
11 | g.66560735A>G | CA381448041 | ACTN3 | c.1840A>G (p.Ile614Val) c.1969A>G (p.Ile657Val) | |
11 | g.66560735A>T | CA381448043 | ACTN3 | c.1840A>T (p.Ile614Phe) c.1969A>T (p.Ile657Phe) | |
11 | g.66560736T>A | CA381448049 | ACTN3 | c.1841T>A (p.Ile614Asn) c.1970T>A (p.Ile657Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.66560736T>C | CA381448047 | ACTN3 | c.1841T>C (p.Ile614Thr) c.1970T>C (p.Ile657Thr) | |
11 | g.66560736T>G | CA381448045 | ACTN3 | c.1841T>G (p.Ile614Ser) c.1970T>G (p.Ile657Ser) | |
11 | g.66560736T= | CA1979721690 | ACTN3 | c.1841T= (p.Ile614=) c.1970T= (p.Ile657=) | |
11 | g.66560736_66560742delinsTCAACAC | CA1979721688 | ACTN3 | c.1841_1847delinsTCAACAC (p.Ile614=) c.1970_1976delinsTCAACAC (p.Ile657=) | |
11 | g.66560737C>A | CA475494472 | ACTN3 | c.1842C>A (p.Ile614=) c.1971C>A (p.Ile657=) | |
11 | g.66560737C>G | CA381448051 | ACTN3 | c.1842C>G (p.Ile614Met) c.1971C>G (p.Ile657Met) | |
11 | g.66560737C>T | CA475494477 | ACTN3 | c.1842C>T (p.Ile614=) c.1971C>T (p.Ile657=) | |
11 | g.66560740_66560745del | CA600232699 | ACTN3 | c.1845_1850del (p.Asn615_Thr616del) c.1974_1979del (p.Asn658_Thr659del) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.66560738A= | CA1979721700 | ACTN3 | c.1843A= (p.Asn615=) c.1972A= (p.Asn658=) | |
11 | g.66560738A>C | CA381448053 | ACTN3 | c.1843A>C (p.Asn615His) c.1972A>C (p.Asn658His) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.66560738A>G | CA381448055 | ACTN3 | c.1843A>G (p.Asn615Asp) c.1972A>G (p.Asn658Asp) | |
11 | g.66560738A>T | CA381448057 | ACTN3 | c.1843A>T (p.Asn615Tyr) c.1972A>T (p.Asn658Tyr) | |
11 | g.66560739A= | CA1979721709 | ACTN3 | c.1844A= (p.Asn615=) c.1973A= (p.Asn658=) | |
11 | g.66560739A>C | CA381448059 | ACTN3 | c.1844A>C (p.Asn615Thr) c.1973A>C (p.Asn658Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66560739A>G | CA381448061 | ACTN3 | c.1844A>G (p.Asn615Ser) c.1973A>G (p.Asn658Ser) | dbSNP gnomAD v4 COSMIC |
11 | g.66560739A>T | CA381448062 | ACTN3 | c.1844A>T (p.Asn615Ile) c.1973A>T (p.Asn658Ile) | |
11 | g.66560740C>A | CA381448064 | ACTN3 | c.1845C>A (p.Asn615Lys) c.1974C>A (p.Asn658Lys) | |
11 | g.66560740C= | CA1979721717 | ACTN3 | c.1845C= (p.Asn615=) c.1974C= (p.Asn658=) | |
11 | g.66560740C>G | CA381448067 | ACTN3 | c.1845C>G (p.Asn615Lys) c.1974C>G (p.Asn658Lys) | |
11 | g.66560740C>T | CA475494484 | ACTN3 | c.1845C>T (p.Asn615=) c.1974C>T (p.Asn658=) | dbSNP gnomAD v4 COSMIC |
11 | g.66560741A= | CA1979721757 | ACTN3 | c.1846A= (p.Thr616=) c.1975A= (p.Thr659=) | |
11 | g.66560741A>C | CA381448068 | ACTN3 | c.1846A>C (p.Thr616Pro) c.1975A>C (p.Thr659Pro) | |
11 | g.66560741A>G | CA381448070 | ACTN3 | c.1846A>G (p.Thr616Ala) c.1975A>G (p.Thr659Ala) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.66560741A>T | CA381448072 | ACTN3 | c.1846A>T (p.Thr616Ser) c.1975A>T (p.Thr659Ser) | |
11 | g.66560741_66560742delinsAC | CA1979721755 | ACTN3 | c.1846_1847delinsAC (p.Thr616=) c.1975_1976delinsAC (p.Thr659=) | |
11 | g.66560742C>A | CA381448077 | ACTN3 | c.1847C>A (p.Thr616Asn) c.1976C>A (p.Thr659Asn) | |
11 | g.66560742C>G | CA381448075 | ACTN3 | c.1847C>G (p.Thr616Ser) c.1976C>G (p.Thr659Ser) | |
11 | g.66560742C>T | CA381448078 | ACTN3 | c.1847C>T (p.Thr616Ile) c.1976C>T (p.Thr659Ile) | |
11 | g.66560743del | CA6124861 | ACTN3 | c.1848del (p.Lys617SerfsTer25) c.1977del (p.Lys660SerfsTer25) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66560743C>A | CA475494492 | ACTN3 | c.1848C>A (p.Thr616=) c.1977C>A (p.Thr659=) | gnomAD v4 |
11 | g.66560743C>G | CA475494493 | ACTN3 | c.1848C>G (p.Thr616=) c.1977C>G (p.Thr659=) | |
11 | g.66560743C>T | CA475494490 | ACTN3 | c.1848C>T (p.Thr616=) c.1977C>T (p.Thr659=) | gnomAD v4 |
11 | g.66560744A= | CA1979721780 | ACTN3 | c.1849A= (p.Lys617=) c.1978A= (p.Lys660=) | |
11 | g.66560744A>C | CA381448081 | ACTN3 | c.1849A>C (p.Lys617Gln) c.1978A>C (p.Lys660Gln) | COSMIC |
11 | g.66560744A>G | CA381448083 | ACTN3 | c.1849A>G (p.Lys617Glu) c.1978A>G (p.Lys660Glu) | gnomAD v4 |
11 | g.66560744A>T | CA381448085 | ACTN3 | c.1849A>T (p.Lys617Ter) c.1978A>T (p.Lys660Ter) | dbSNP |
11 | g.66560745A>C | CA381448087 | ACTN3 | c.1850A>C (p.Lys617Thr) c.1979A>C (p.Lys660Thr) | |
11 | g.66560745A>G | CA381448089 | ACTN3 | c.1850A>G (p.Lys617Arg) c.1979A>G (p.Lys660Arg) | |
11 | g.66560745A>T | CA381448090 | ACTN3 | c.1850A>T (p.Lys617Met) c.1979A>T (p.Lys660Met) | |
11 | g.66560745_66560746insACACACCCAACACA | CA2792479687 | ACTN3 | c.1850_1851insACACACCCAACACA (p.Trp618HisfsTer29) c.1979_1980insACACACCCAACACA (p.Trp661HisfsTer29) | |
11 | g.66560746G>A | CA475370271 | ACTN3 | c.1851G>A (p.Lys617=) c.1980G>A (p.Lys660=) | |
11 | g.66560746G>C | CA381448868 | ACTN3 | c.1851G>C (p.Lys617Asn) c.1980G>C (p.Lys660Asn) | |
11 | g.66560746G>T | CA381448865 | ACTN3 | c.1851G>T (p.Lys617Asn) c.1980G>T (p.Lys660Asn) | |
11 | g.66560747T>A | CA381448871 | ACTN3 | c.1852T>A (p.Trp618Arg) c.1981T>A (p.Trp661Arg) | |
11 | g.66560747T>C | CA381448876 | ACTN3 | c.1852T>C (p.Trp618Arg) c.1981T>C (p.Trp661Arg) | |
11 | g.66560747T>G | CA381448878 | ACTN3 | c.1852T>G (p.Trp618Gly) c.1981T>G (p.Trp661Gly) | |
11 | g.66560748G>A | CA381448881 | ACTN3 | c.1853G>A (p.Trp618Ter) c.1982G>A (p.Trp661Ter) | COSMIC |
11 | g.66560748G>C | CA381448883 | ACTN3 | c.1853G>C (p.Trp618Ser) c.1982G>C (p.Trp661Ser) | |
11 | g.66560748G>T | CA381448887 | ACTN3 | c.1853G>T (p.Trp618Leu) c.1982G>T (p.Trp661Leu) | |
11 | g.66560749G>A | CA381448891 | ACTN3 | c.1854G>A (p.Trp618Ter) c.1983G>A (p.Trp661Ter) | |
11 | g.66560749G>C | CA381448896 | ACTN3 | c.1854G>C (p.Trp618Cys) c.1983G>C (p.Trp661Cys) | |
11 | g.66560749G>T | CA381448894 | ACTN3 | c.1854G>T (p.Trp618Cys) c.1983G>T (p.Trp661Cys) | |
11 | g.66560750G>A | CA6124862 | ACTN3 | c.1855G>A (p.Asp619Asn) c.1984G>A (p.Asp662Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66560750G>C | CA381448901 | ACTN3 | c.1855G>C (p.Asp619His) c.1984G>C (p.Asp662His) | |
11 | g.66560750G= | CA1979721785 | ACTN3 | c.1855G= (p.Asp619=) c.1984G= (p.Asp662=) | |
11 | g.66560750G>T | CA381448904 | ACTN3 | c.1855G>T (p.Asp619Tyr) c.1984G>T (p.Asp662Tyr) | |
11 | g.66560750_66560751insGGGGCAC | CA6124863 | ACTN3 | c.1855_1856insGGGGCAC (p.Asp619GlyfsTer13) c.1984_1985insGGGGCAC (p.Asp662GlyfsTer13) | dbSNP ExAC |
11 | g.66560751A= | CA1979721798 | ACTN3 | c.1856A= (p.Asp619=) c.1985A= (p.Asp662=) | |
11 | g.66560751A>C | CA381448909 | ACTN3 | c.1856A>C (p.Asp619Ala) c.1985A>C (p.Asp662Ala) | |
11 | g.66560751A>G | CA6124864 | ACTN3 | c.1856A>G (p.Asp619Gly) c.1985A>G (p.Asp662Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.66560751A>T | CA381448911 | ACTN3 | c.1856A>T (p.Asp619Val) c.1985A>T (p.Asp662Val) | |
11 | g.66560752T>A | CA381448913 | ACTN3 | c.1857T>A (p.Asp619Glu) c.1986T>A (p.Asp662Glu) | |
11 | g.66560752T>C | CA475370278 | ACTN3 | c.1857T>C (p.Asp619=) c.1986T>C (p.Asp662=) | |
11 | g.66560752T>G | CA381448915 | ACTN3 | c.1857T>G (p.Asp619Glu) c.1986T>G (p.Asp662Glu) | |
11 | g.66560753A= | CA1979721802 | ACTN3 | c.1858A= (p.Met620=) c.1987A= (p.Met663=) | |
11 | g.66560753A>C | CA381448919 | ACTN3 | c.1858A>C (p.Met620Leu) c.1987A>C (p.Met663Leu) | |
11 | g.66560753A>G | CA381448922 | ACTN3 | c.1858A>G (p.Met620Val) c.1987A>G (p.Met663Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.66560753A>T | CA381448925 | ACTN3 | c.1858A>T (p.Met620Leu) c.1987A>T (p.Met663Leu) | |
11 | g.66560754T>A | CA381448929 | ACTN3 | c.1859T>A (p.Met620Lys) c.1988T>A (p.Met663Lys) | |
11 | g.66560754T>C | CA224076025 | ACTN3 | c.1859T>C (p.Met620Thr) c.1988T>C (p.Met663Thr) | dbSNP |
11 | g.66560754T>G | CA381448931 | ACTN3 | c.1859T>G (p.Met620Arg) c.1988T>G (p.Met663Arg) | |
11 | g.66560754T= | CA1979721809 | ACTN3 | c.1859T= (p.Met620=) c.1988T= (p.Met663=) | |
11 | g.66560755G>A | CA381448936 | ACTN3 | c.1860G>A (p.Met620Ile) c.1989G>A (p.Met663Ile) | |
11 | g.66560755G>C | CA381448937 | ACTN3 | c.1860G>C (p.Met620Ile) c.1989G>C (p.Met663Ile) | |
11 | g.66560755G>T | CA381448940 | ACTN3 | c.1860G>T (p.Met620Ile) c.1989G>T (p.Met663Ile) | |
11 | g.66560756G>A | CA381448943 | ACTN3 | c.1860+1G>A (n.1860+1G>A) c.1989+1G>A (n.1989+1G>A) | |
11 | g.66560756G>C | CA381448944 | ACTN3 | c.1860+1G>C (n.1860+1G>C) c.1989+1G>C (n.1989+1G>C) | |
11 | g.66560756G>T | CA381448945 | ACTN3 | c.1860+1G>T (n.1860+1G>T) c.1989+1G>T (n.1989+1G>T) | |
11 | g.66560757T>A | CA381448946 | ACTN3 | c.1860+2T>A (n.1860+2T>A) c.1989+2T>A (n.1989+2T>A) | |
11 | g.66560757T>C | CA6124865 | ACTN3 | c.1860+2T>C (n.1860+2T>C) c.1989+2T>C (n.1989+2T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.66560757T>G | CA381448947 | ACTN3 | c.1860+2T>G (n.1860+2T>G) c.1989+2T>G (n.1989+2T>G) | |
11 | g.66560757T= | CA1979721819 | ACTN3 | c.1860+2T= (n.1860+2T=) c.1989+2T= (n.1989+2T=) | |
11 | g.66560758C>A | CA2614514446 | ACTN3 | c.1860+3C>A (n.1860+3C>A) c.1989+3C>A (n.1989+3C>A) | gnomAD v4 |
11 | g.66560758C= | CA1979721829 | ACTN3 | c.1860+3C= (n.1860+3C=) c.1989+3C= (n.1989+3C=) | |
11 | g.66560758C>G | CA2574888146 | ACTN3 | c.1860+3C>G (n.1860+3C>G) c.1989+3C>G (n.1989+3C>G) | |
11 | g.66560758C>T | CA224076048 | ACTN3 | c.1860+3C>T (n.1860+3C>T) c.1989+3C>T (n.1989+3C>T) | dbSNP gnomAD v4 |
11 | g.66560760G>A | CA6124866 | ACTN3 | c.1860+5G>A (n.1860+5G>A) c.1989+5G>A (n.1989+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.66560760G= | CA1979721830 | ACTN3 | c.1860+5G= (n.1860+5G=) c.1989+5G= (n.1989+5G=) | |
11 | g.66560761T>G | CA2614514450 | ACTN3 | c.1860+6T>G (n.1860+6T>G) c.1989+6T>G (n.1989+6T>G) | gnomAD v4 |
11 | g.66560763C>A | CA2614514453 | ACTN3 | c.1860+8C>A (n.1860+8C>A) c.1989+8C>A (n.1989+8C>A) | gnomAD v4 |
11 | g.66560763C= | CA1979721833 | ACTN3 | c.1860+8C= (n.1860+8C=) c.1989+8C= (n.1989+8C=) | |
11 | g.66560763C>G | CA6124867 | ACTN3 | c.1860+8C>G (n.1860+8C>G) c.1989+8C>G (n.1989+8C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66560766C>T | CA2614514458 | ACTN3 | c.1860+11C>T (n.1860+11C>T) c.1989+11C>T (n.1989+11C>T) | gnomAD v4 |
11 | g.66560768_66560794del | CA2614514461 | ACTN3 | c.1860+13_1860+39del (n.1860+13_1860+39del) c.1989+13_1989+39del (n.1989+13_1989+39del) | gnomAD v4 |
11 | g.66560768T>G | CA2614514462 | ACTN3 | c.1860+13T>G (n.1860+13T>G) c.1989+13T>G (n.1989+13T>G) | gnomAD v4 |
11 | g.66560769G>A | CA1979721838 | ACTN3 | c.1860+14G>A (n.1860+14G>A) c.1989+14G>A (n.1989+14G>A) | dbSNP gnomAD v4 |
11 | g.66560769G= | CA1979721837 | ACTN3 | c.1860+14G= (n.1860+14G=) c.1989+14G= (n.1989+14G=) | |
11 | g.66560770C>G | CA2614514465 | ACTN3 | c.1860+15C>G (n.1860+15C>G) c.1989+15C>G (n.1989+15C>G) | gnomAD v4 |
11 | g.66560771A>G | CA2614514466 | ACTN3 | c.1860+16A>G (n.1860+16A>G) c.1989+16A>G (n.1989+16A>G) | gnomAD v4 |
11 | g.66560772G>A | CA599867645 | ACTN3 | c.1860+17G>A (n.1860+17G>A) c.1989+17G>A (n.1989+17G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.66560772G= | CA1979721842 | ACTN3 | c.1860+17G= (n.1860+17G=) c.1989+17G= (n.1989+17G=) | |
11 | g.66560774C>A | CA2574888147 | ACTN3 | c.1860+19C>A (n.1860+19C>A) c.1989+19C>A (n.1989+19C>A) | |
11 | g.66560774C>T | CA2614514467 | ACTN3 | c.1860+19C>T (n.1860+19C>T) c.1989+19C>T (n.1989+19C>T) | gnomAD v4 |
11 | g.66560775T>C | CA2792479691 | ACTN3 | c.1860+20T>C (n.1860+20T>C) c.1989+20T>C (n.1989+20T>C) | |
11 | g.66560777C= | CA1979721843 | ACTN3 | c.1860+22C= (n.1860+22C=) c.1989+22C= (n.1989+22C=) | |
11 | g.66560777C>T | CA599867646 | ACTN3 | c.1860+22C>T (n.1860+22C>T) c.1989+22C>T (n.1989+22C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66560778C>A | CA2614514470 | ACTN3 | c.1860+23C>A (n.1860+23C>A) c.1989+23C>A (n.1989+23C>A) | gnomAD v4 |
11 | g.66560778C= | CA1979721846 | ACTN3 | c.1860+23C= (n.1860+23C=) c.1989+23C= (n.1989+23C=) | |
11 | g.66560778C>T | CA6124868 | ACTN3 | c.1860+23C>T (n.1860+23C>T) c.1989+23C>T (n.1989+23C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66560779T>A | CA2614514473 | ACTN3 | c.1860+24T>A (n.1860+24T>A) c.1989+24T>A (n.1989+24T>A) | gnomAD v4 |
11 | g.66560780C>T | CA2574888148 | ACTN3 | c.1860+25C>T (n.1860+25C>T) c.1989+25C>T (n.1989+25C>T) | gnomAD v4 |
11 | g.66560782del | CA2614514478 | ACTN3 | c.1860+27del (n.1860+27del) c.1989+27del (n.1989+27del) | gnomAD v4 |
11 | g.66560783_66560786dup | CA2614514477 | ACTN3 | c.1860+28_1860+31dup (n.1860+28_1860+31dup) c.1989+28_1989+31dup (n.1989+28_1989+31dup) | gnomAD v4 |
11 | g.66560781C>A | CA599867647 | ACTN3 | c.1860+26C>A (n.1860+26C>A) c.1989+26C>A (n.1989+26C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66560781C= | CA1979721849 | ACTN3 | c.1860+26C= (n.1860+26C=) c.1989+26C= (n.1989+26C=) | |
11 | g.66560781C>T | CA2614514481 | ACTN3 | c.1860+26C>T (n.1860+26C>T) c.1989+26C>T (n.1989+26C>T) | gnomAD v4 |
11 | g.66560782C>A | CA938984592 | ACTN3 | c.1860+27C>A (n.1860+27C>A) c.1989+27C>A (n.1989+27C>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.66560782C= | CA1979721852 | ACTN3 | c.1860+27C= (n.1860+27C=) c.1989+27C= (n.1989+27C=) | |
11 | g.66560782C>T | CA2614514485 | ACTN3 | c.1860+27C>T (n.1860+27C>T) c.1989+27C>T (n.1989+27C>T) | gnomAD v4 |
11 | g.66560783A= | CA1979721859 | ACTN3 | c.1860+28A= (n.1860+28A=) c.1989+28A= (n.1989+28A=) | |
11 | g.66560783A>C | CA599867648 | ACTN3 | c.1860+28A>C (n.1860+28A>C) c.1989+28A>C (n.1989+28A>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.66560784C>A | CA938984593 | ACTN3 | c.1860+29C>A (n.1860+29C>A) c.1989+29C>A (n.1989+29C>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.66560784C= | CA1979721865 | ACTN3 | c.1860+29C= (n.1860+29C=) c.1989+29C= (n.1989+29C=) | |
11 | g.66560784C>T | CA224076102 | ACTN3 | c.1860+29C>T (n.1860+29C>T) c.1989+29C>T (n.1989+29C>T) | dbSNP gnomAD v4 |
11 | g.66560788dup | CA6124869 | ACTN3 | c.1860+33dup (n.1860+33dup) c.1989+33dup (n.1989+33dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66560788del | CA2614514493 | ACTN3 | c.1860+33del (n.1860+33del) c.1989+33del (n.1989+33del) | gnomAD v4 |
11 | g.66560785C>G | CA2614514494 | ACTN3 | c.1860+30C>G (n.1860+30C>G) c.1989+30C>G (n.1989+30C>G) | gnomAD v4 |
11 | g.66560786C>A | CA2614514497 | ACTN3 | c.1860+31C>A (n.1860+31C>A) c.1989+31C>A (n.1989+31C>A) | gnomAD v4 |
11 | g.66560787C= | CA1979721872 | ACTN3 | c.1860+32C= (n.1860+32C=) c.1989+32C= (n.1989+32C=) | |
11 | g.66560787C>G | CA6124870 | ACTN3 | c.1860+32C>G (n.1860+32C>G) c.1989+32C>G (n.1989+32C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.66560787C>T | CA599867649 | ACTN3 | c.1860+32C>T (n.1860+32C>T) c.1989+32C>T (n.1989+32C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66560788C>A | CA2614514503 | ACTN3 | c.1860+33C>A (n.1860+33C>A) c.1989+33C>A (n.1989+33C>A) | gnomAD v4 |
11 | g.66560788C= | CA1979721878 | ACTN3 | c.1860+33C= (n.1860+33C=) c.1989+33C= (n.1989+33C=) | |
11 | g.66560788C>G | CA679420236 | ACTN3 | c.1860+33C>G (n.1860+33C>G) c.1989+33C>G (n.1989+33C>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.66560788C>T | CA599867650 | ACTN3 | c.1860+33C>T (n.1860+33C>T) c.1989+33C>T (n.1989+33C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.66560790C>A | CA2614514509 | ACTN3 | c.1860+35C>A (n.1860+35C>A) c.1989+35C>A (n.1989+35C>A) | gnomAD v4 |
11 | g.66560790C= | CA1979721883 | ACTN3 | c.1860+35C= (n.1860+35C=) c.1989+35C= (n.1989+35C=) | |
11 | g.66560790C>T | CA6124871 | ACTN3 | c.1860+35C>T (n.1860+35C>T) c.1989+35C>T (n.1989+35C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.66560791C= | CA1979721885 | ACTN3 | c.1860+36C= (n.1860+36C=) c.1989+36C= (n.1989+36C=) | |
11 | g.66560791C>T | CA224076106 | ACTN3 | c.1860+36C>T (n.1860+36C>T) c.1989+36C>T (n.1989+36C>T) | dbSNP |
11 | g.66560793G>A | CA2614514514 | ACTN3 | c.1860+38G>A (n.1860+38G>A) c.1989+38G>A (n.1989+38G>A) | gnomAD v4 |
11 | g.66560793G>T | CA2614514515 | ACTN3 | c.1860+38G>T (n.1860+38G>T) c.1989+38G>T (n.1989+38G>T) | gnomAD v4 |
11 | g.66560794C>A | CA2614514518 | ACTN3 | c.1860+39C>A (n.1860+39C>A) c.1989+39C>A (n.1989+39C>A) | gnomAD v4 |
11 | g.66560794C= | CA1979721895 | ACTN3 | c.1860+39C= (n.1860+39C=) c.1989+39C= (n.1989+39C=) | |
11 | g.66560794C>T | CA599867651 | ACTN3 | c.1860+39C>T (n.1860+39C>T) c.1989+39C>T (n.1989+39C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.66560795A>T | CA2614514521 | ACTN3 | c.1860+40A>T (n.1860+40A>T) c.1989+40A>T (n.1989+40A>T) | gnomAD v4 |
11 | g.66560796T>C | CA6124872 | ACTN3 | c.1860+41T>C (n.1860+41T>C) c.1989+41T>C (n.1989+41T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66560796T= | CA1979721899 | ACTN3 | c.1860+41T= (n.1860+41T=) c.1989+41T= (n.1989+41T=) | |
11 | g.66560798_66560814del | CA2614514522 | ACTN3 | c.1860+43_1860+59del (n.1860+43_1860+59del) c.1989+43_1989+59del (n.1989+43_1989+59del) | gnomAD v4 |
11 | g.66560798C>A | CA2614514523 | ACTN3 | c.1860+43C>A (n.1860+43C>A) c.1989+43C>A (n.1989+43C>A) | gnomAD v4 |
11 | g.66560798C= | CA1979721900 | ACTN3 | c.1860+43C= (n.1860+43C=) c.1989+43C= (n.1989+43C=) | |
11 | g.66560798C>T | CA6124873 | ACTN3 | c.1860+43C>T (n.1860+43C>T) c.1989+43C>T (n.1989+43C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.66560800G>A | CA2574888149 | ACTN3 | c.1860+45G>A (n.1860+45G>A) c.1989+45G>A (n.1989+45G>A) | gnomAD v4 |
11 | g.66560800G= | CA1979721902 | ACTN3 | c.1860+45G= (n.1860+45G=) c.1989+45G= (n.1989+45G=) | |
11 | g.66560800G>T | CA1979721905 | ACTN3 | c.1860+45G>T (n.1860+45G>T) c.1989+45G>T (n.1989+45G>T) | dbSNP gnomAD v4 |
11 | g.66560801T>C | CA2574888150 | ACTN3 | c.1860+46T>C (n.1860+46T>C) c.1989+46T>C (n.1989+46T>C) | |
11 | g.66560801T>G | CA6124874 | ACTN3 | c.1860+46T>G (n.1860+46T>G) c.1989+46T>G (n.1989+46T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.66560801T= | CA1979721908 | ACTN3 | c.1860+46T= (n.1860+46T=) c.1989+46T= (n.1989+46T=) | |
11 | g.66560802G= | CA1979721914 | ACTN3 | c.1860+47G= (n.1860+47G=) c.1989+47G= (n.1989+47G=) | |
11 | g.66560802G>T | CA599867652 | ACTN3 | c.1860+47G>T (n.1860+47G>T) c.1989+47G>T (n.1989+47G>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.66560803A>C | CA2614514535 | ACTN3 | c.1860+48A>C (n.1860+48A>C) c.1989+48A>C (n.1989+48A>C) | gnomAD v4 |
11 | g.66560804C>G | CA2614514537 | ACTN3 | c.1860+49C>G (n.1860+49C>G) c.1989+49C>G (n.1989+49C>G) | gnomAD v4 |
11 | g.66560804C>T | CA2614514539 | ACTN3 | c.1860+49C>T (n.1860+49C>T) c.1989+49C>T (n.1989+49C>T) | gnomAD v4 |
11 | g.66560805C>A | CA2614514540 | ACTN3 | c.1860+50C>A (n.1860+50C>A) c.1989+50C>A (n.1989+50C>A) | gnomAD v4 |
11 | g.66560806A= | CA1979721915 | ACTN3 | c.1860+51A= (n.1860+51A=) c.1989+51A= (n.1989+51A=) | |
11 | g.66560806A>C | CA2614514543 | ACTN3 | c.1860+51A>C (n.1860+51A>C) c.1989+51A>C (n.1989+51A>C) | gnomAD v4 |
11 | g.66560806A>G | CA938984597 | ACTN3 | c.1860+51A>G (n.1860+51A>G) c.1989+51A>G (n.1989+51A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.66560807C>A | CA2614514548 | ACTN3 | c.1860+52C>A (n.1860+52C>A) c.1989+52C>A (n.1989+52C>A) | gnomAD v4 |
11 | g.66560807C>T | CA2614514554 | ACTN3 | c.1860+52C>T (n.1860+52C>T) c.1989+52C>T (n.1989+52C>T) | gnomAD v4 |
11 | g.66560809del | CA2614514546 | ACTN3 | c.1860+54del (n.1860+54del) c.1989+54del (n.1989+54del) | gnomAD v4 |