Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.77174780C>ACA381939149MYO7Ac.1960C>A (p.Arg654Ser)
c.25C>A (p.Arg9Ser)
c.1927C>A (p.Arg643Ser)
c.1729C>A (p.Arg577Ser)
c.1702C>A (p.Arg568Ser)
n.2280C>A
n.2282C>A
c.2050C>A (p.Arg684Ser)
c.1819C>A (p.Arg607Ser)
n.2065C>A
gnomAD v4
11g.77174780C=CA1984113569MYO7Ac.1960C= (p.Arg654=)
c.25C= (p.Arg9=)
c.1927C= (p.Arg643=)
c.1729C= (p.Arg577=)
c.1702C= (p.Arg568=)
n.2280C=
n.2282C=
c.2050C= (p.Arg684=)
c.1819C= (p.Arg607=)
n.2065C=
11g.77174780C>GCA381939151MYO7Ac.1960C>G (p.Arg654Gly)
c.25C>G (p.Arg9Gly)
c.1927C>G (p.Arg643Gly)
c.1729C>G (p.Arg577Gly)
c.1702C>G (p.Arg568Gly)
n.2280C>G
n.2282C>G
c.2050C>G (p.Arg684Gly)
c.1819C>G (p.Arg607Gly)
n.2065C>G
11g.77174780C>TCA6197654MYO7Ac.1960C>T (p.Arg654Cys)
c.25C>T (p.Arg9Cys)
c.1927C>T (p.Arg643Cys)
c.1729C>T (p.Arg577Cys)
c.1702C>T (p.Arg568Cys)
n.2280C>T
n.2282C>T
c.2050C>T (p.Arg684Cys)
c.1819C>T (p.Arg607Cys)
n.2065C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174781G>ACA6197655MYO7Ac.1961G>A (p.Arg654His)
c.26G>A (p.Arg9His)
c.1928G>A (p.Arg643His)
c.1730G>A (p.Arg577His)
c.1703G>A (p.Arg568His)
n.2281G>A
n.2283G>A
c.2051G>A (p.Arg684His)
c.1820G>A (p.Arg607His)
n.2066G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77174781G>CCA381939153MYO7Ac.1961G>C (p.Arg654Pro)
c.26G>C (p.Arg9Pro)
c.1928G>C (p.Arg643Pro)
c.1730G>C (p.Arg577Pro)
c.1703G>C (p.Arg568Pro)
n.2281G>C
n.2283G>C
c.2051G>C (p.Arg684Pro)
c.1820G>C (p.Arg607Pro)
n.2066G>C
dbSNP gnomAD v3 gnomAD v4
11g.77174781G=CA1984113582MYO7Ac.1961G= (p.Arg654=)
c.26G= (p.Arg9=)
c.1928G= (p.Arg643=)
c.1730G= (p.Arg577=)
c.1703G= (p.Arg568=)
n.2281G=
n.2283G=
c.2051G= (p.Arg684=)
c.1820G= (p.Arg607=)
n.2066G=
11g.77174781G>TCA381939154MYO7Ac.1961G>T (p.Arg654Leu)
c.26G>T (p.Arg9Leu)
c.1928G>T (p.Arg643Leu)
c.1730G>T (p.Arg577Leu)
c.1703G>T (p.Arg568Leu)
n.2281G>T
n.2283G>T
c.2051G>T (p.Arg684Leu)
c.1820G>T (p.Arg607Leu)
n.2066G>T
11g.77174782C>ACA475794533MYO7Ac.1962C>A (p.Arg654=)
c.27C>A (p.Arg9=)
c.1929C>A (p.Arg643=)
c.1731C>A (p.Arg577=)
c.1704C>A (p.Arg568=)
n.2282C>A
n.2284C>A
c.2052C>A (p.Arg684=)
c.1821C>A (p.Arg607=)
n.2067C>A
11g.77174782C>GCA475794534MYO7Ac.1962C>G (p.Arg654=)
c.27C>G (p.Arg9=)
c.1929C>G (p.Arg643=)
c.1731C>G (p.Arg577=)
c.1704C>G (p.Arg568=)
n.2282C>G
n.2284C>G
c.2052C>G (p.Arg684=)
c.1821C>G (p.Arg607=)
n.2067C>G
11g.77174782C>TCA475794535MYO7Ac.1962C>T (p.Arg654=)
c.27C>T (p.Arg9=)
c.1929C>T (p.Arg643=)
c.1731C>T (p.Arg577=)
c.1704C>T (p.Arg568=)
n.2282C>T
n.2284C>T
c.2052C>T (p.Arg684=)
c.1821C>T (p.Arg607=)
n.2067C>T
11g.77174783C>ACA381939158MYO7Ac.1963C>A (p.Gln655Lys)
c.28C>A (p.Gln10Lys)
c.1930C>A (p.Gln644Lys)
c.1732C>A (p.Gln578Lys)
c.1705C>A (p.Gln569Lys)
n.2283C>A
n.2285C>A
c.2053C>A (p.Gln685Lys)
c.1822C>A (p.Gln608Lys)
n.2068C>A
11g.77174783C=CA1984113590MYO7Ac.1963C= (p.Gln655=)
c.28C= (p.Gln10=)
c.1930C= (p.Gln644=)
c.1732C= (p.Gln578=)
c.1705C= (p.Gln569=)
n.2283C=
n.2285C=
c.2053C= (p.Gln685=)
c.1822C= (p.Gln608=)
n.2068C=
11g.77174783C>GCA381939156MYO7Ac.1963C>G (p.Gln655Glu)
c.28C>G (p.Gln10Glu)
c.1930C>G (p.Gln644Glu)
c.1732C>G (p.Gln578Glu)
c.1705C>G (p.Gln569Glu)
n.2283C>G
n.2285C>G
c.2053C>G (p.Gln685Glu)
c.1822C>G (p.Gln608Glu)
n.2068C>G
11g.77174783C>TCA278638MYO7Ac.1963C>T (p.Gln655Ter)
c.28C>T (p.Gln10Ter)
c.1930C>T (p.Gln644Ter)
c.1732C>T (p.Gln578Ter)
c.1705C>T (p.Gln569Ter)
n.2283C>T
n.2285C>T
c.2053C>T (p.Gln685Ter)
c.1822C>T (p.Gln608Ter)
n.2068C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77174784A=CA1984113596MYO7Ac.1964A= (p.Gln655=)
c.29A= (p.Gln10=)
c.1931A= (p.Gln644=)
c.1733A= (p.Gln578=)
c.1706A= (p.Gln569=)
n.2284A=
n.2286A=
c.2054A= (p.Gln685=)
c.1823A= (p.Gln608=)
n.2069A=
11g.77174784A>CCA381939159MYO7Ac.1964A>C (p.Gln655Pro)
c.29A>C (p.Gln10Pro)
c.1931A>C (p.Gln644Pro)
c.1733A>C (p.Gln578Pro)
c.1706A>C (p.Gln569Pro)
n.2284A>C
n.2286A>C
c.2054A>C (p.Gln685Pro)
c.1823A>C (p.Gln608Pro)
n.2069A>C
11g.77174784A>GCA381939162MYO7Ac.1964A>G (p.Gln655Arg)
c.29A>G (p.Gln10Arg)
c.1931A>G (p.Gln644Arg)
c.1733A>G (p.Gln578Arg)
c.1706A>G (p.Gln569Arg)
n.2284A>G
n.2286A>G
c.2054A>G (p.Gln685Arg)
c.1823A>G (p.Gln608Arg)
n.2069A>G
dbSNP gnomAD v3 gnomAD v4
11g.77174784A>TCA381939161MYO7Ac.1964A>T (p.Gln655Leu)
c.29A>T (p.Gln10Leu)
c.1931A>T (p.Gln644Leu)
c.1733A>T (p.Gln578Leu)
c.1706A>T (p.Gln569Leu)
n.2284A>T
n.2286A>T
c.2054A>T (p.Gln685Leu)
c.1823A>T (p.Gln608Leu)
n.2069A>T
11g.77174785G>ACA475794536MYO7Ac.1965G>A (p.Gln655=)
c.30G>A (p.Gln10=)
c.1932G>A (p.Gln644=)
c.1734G>A (p.Gln578=)
c.1707G>A (p.Gln569=)
n.2285G>A
n.2287G>A
c.2055G>A (p.Gln685=)
c.1824G>A (p.Gln608=)
n.2070G>A
11g.77174785G>CCA381939164MYO7Ac.1965G>C (p.Gln655His)
c.30G>C (p.Gln10His)
c.1932G>C (p.Gln644His)
c.1734G>C (p.Gln578His)
c.1707G>C (p.Gln569His)
n.2285G>C
n.2287G>C
c.2055G>C (p.Gln685His)
c.1824G>C (p.Gln608His)
n.2070G>C
11g.77174785G>TCA381939166MYO7Ac.1965G>T (p.Gln655His)
c.30G>T (p.Gln10His)
c.1932G>T (p.Gln644His)
c.1734G>T (p.Gln578His)
c.1707G>T (p.Gln569His)
n.2285G>T
n.2287G>T
c.2055G>T (p.Gln685His)
c.1824G>T (p.Gln608His)
n.2070G>T
11g.77174786C>ACA381939167MYO7Ac.1966C>A (p.Leu656Met)
c.31C>A (p.Leu11Met)
c.1933C>A (p.Leu645Met)
c.1735C>A (p.Leu579Met)
c.1708C>A (p.Leu570Met)
n.2286C>A
n.2288C>A
c.2056C>A (p.Leu686Met)
c.1825C>A (p.Leu609Met)
n.2071C>A
11g.77174786C>GCA381939168MYO7Ac.1966C>G (p.Leu656Val)
c.31C>G (p.Leu11Val)
c.1933C>G (p.Leu645Val)
c.1735C>G (p.Leu579Val)
c.1708C>G (p.Leu570Val)
n.2286C>G
n.2288C>G
c.2056C>G (p.Leu686Val)
c.1825C>G (p.Leu609Val)
n.2071C>G
11g.77174786C>TCA475794537MYO7Ac.1966C>T (p.Leu656=)
c.31C>T (p.Leu11=)
c.1933C>T (p.Leu645=)
c.1735C>T (p.Leu579=)
c.1708C>T (p.Leu570=)
n.2286C>T
n.2288C>T
c.2056C>T (p.Leu686=)
c.1825C>T (p.Leu609=)
n.2071C>T
11g.77174787T>ACA381939170MYO7Ac.1967T>A (p.Leu656Gln)
c.32T>A (p.Leu11Gln)
c.1934T>A (p.Leu645Gln)
c.1736T>A (p.Leu579Gln)
c.1709T>A (p.Leu570Gln)
n.2287T>A
n.2289T>A
c.2057T>A (p.Leu686Gln)
c.1826T>A (p.Leu609Gln)
n.2072T>A
11g.77174787T>CCA381939172MYO7Ac.1967T>C (p.Leu656Pro)
c.32T>C (p.Leu11Pro)
c.1934T>C (p.Leu645Pro)
c.1736T>C (p.Leu579Pro)
c.1709T>C (p.Leu570Pro)
n.2287T>C
n.2289T>C
c.2057T>C (p.Leu686Pro)
c.1826T>C (p.Leu609Pro)
n.2072T>C
11g.77174787T>GCA381939174MYO7Ac.1967T>G (p.Leu656Arg)
c.32T>G (p.Leu11Arg)
c.1934T>G (p.Leu645Arg)
c.1736T>G (p.Leu579Arg)
c.1709T>G (p.Leu570Arg)
n.2287T>G
n.2289T>G
c.2057T>G (p.Leu686Arg)
c.1826T>G (p.Leu609Arg)
n.2072T>G
11g.77174787_77174790delCA2792769265MYO7Ac.1967_1970del (p.Leu656ArgfsTer5)
c.32_35del (p.Leu11ArgfsTer5)
c.1934_1937del (p.Leu645ArgfsTer5)
c.1736_1739del (p.Leu579ArgfsTer5)
c.1709_1712del (p.Leu570ArgfsTer5)
n.2287_2290del
n.2289_2292del
c.2057_2060del (p.Leu686ArgfsTer5)
c.1826_1829del (p.Leu609ArgfsTer5)
n.2072_2075del
11g.77174788G>ACA475794538MYO7Ac.1968G>A (p.Leu656=)
c.33G>A (p.Leu11=)
c.1935G>A (p.Leu645=)
c.1737G>A (p.Leu579=)
c.1710G>A (p.Leu570=)
n.2288G>A
n.2290G>A
c.2058G>A (p.Leu686=)
c.1827G>A (p.Leu609=)
n.2073G>A
11g.77174788G>CCA475794539MYO7Ac.1968G>C (p.Leu656=)
c.33G>C (p.Leu11=)
c.1935G>C (p.Leu645=)
c.1737G>C (p.Leu579=)
c.1710G>C (p.Leu570=)
n.2288G>C
n.2290G>C
c.2058G>C (p.Leu686=)
c.1827G>C (p.Leu609=)
n.2073G>C
11g.77174788G>TCA475794540MYO7Ac.1968G>T (p.Leu656=)
c.33G>T (p.Leu11=)
c.1935G>T (p.Leu645=)
c.1737G>T (p.Leu579=)
c.1710G>T (p.Leu570=)
n.2288G>T
n.2290G>T
c.2058G>T (p.Leu686=)
c.1827G>T (p.Leu609=)
n.2073G>T
gnomAD v4
11g.77174789C>ACA475794541MYO7Ac.1969C>A (p.Arg657=)
c.34C>A (p.Arg12=)
c.1936C>A (p.Arg646=)
c.1738C>A (p.Arg580=)
c.1711C>A (p.Arg571=)
n.2289C>A
n.2291C>A
c.2059C>A (p.Arg687=)
c.1828C>A (p.Arg610=)
n.2074C>A
11g.77174789C=CA1984113606MYO7Ac.1969C= (p.Arg657=)
c.34C= (p.Arg12=)
c.1936C= (p.Arg646=)
c.1738C= (p.Arg580=)
c.1711C= (p.Arg571=)
n.2289C=
n.2291C=
c.2059C= (p.Arg687=)
c.1828C= (p.Arg610=)
n.2074C=
11g.77174789C>GCA381939175MYO7Ac.1969C>G (p.Arg657Gly)
c.34C>G (p.Arg12Gly)
c.1936C>G (p.Arg646Gly)
c.1738C>G (p.Arg580Gly)
c.1711C>G (p.Arg571Gly)
n.2289C>G
n.2291C>G
c.2059C>G (p.Arg687Gly)
c.1828C>G (p.Arg610Gly)
n.2074C>G
11g.77174789C>TCA16616838MYO7Ac.1969C>T (p.Arg657Trp)
c.34C>T (p.Arg12Trp)
c.1936C>T (p.Arg646Trp)
c.1738C>T (p.Arg580Trp)
c.1711C>T (p.Arg571Trp)
n.2289C>T
n.2291C>T
c.2059C>T (p.Arg687Trp)
c.1828C>T (p.Arg610Trp)
n.2074C>T
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.77174790G>ACA6197656MYO7Ac.1970G>A (p.Arg657Gln)
c.35G>A (p.Arg12Gln)
c.1937G>A (p.Arg646Gln)
c.1739G>A (p.Arg580Gln)
c.1712G>A (p.Arg571Gln)
n.2290G>A
n.2292G>A
c.2060G>A (p.Arg687Gln)
c.1829G>A (p.Arg610Gln)
n.2075G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174790G>CCA381939178MYO7Ac.1970G>C (p.Arg657Pro)
c.35G>C (p.Arg12Pro)
c.1937G>C (p.Arg646Pro)
c.1739G>C (p.Arg580Pro)
c.1712G>C (p.Arg571Pro)
n.2290G>C
n.2292G>C
c.2060G>C (p.Arg687Pro)
c.1829G>C (p.Arg610Pro)
n.2075G>C
11g.77174790G=CA1984113618MYO7Ac.1970G= (p.Arg657=)
c.35G= (p.Arg12=)
c.1937G= (p.Arg646=)
c.1739G= (p.Arg580=)
c.1712G= (p.Arg571=)
n.2290G=
n.2292G=
c.2060G= (p.Arg687=)
c.1829G= (p.Arg610=)
n.2075G=
11g.77174790G>TCA381939180MYO7Ac.1970G>T (p.Arg657Leu)
c.35G>T (p.Arg12Leu)
c.1937G>T (p.Arg646Leu)
c.1739G>T (p.Arg580Leu)
c.1712G>T (p.Arg571Leu)
n.2290G>T
n.2292G>T
c.2060G>T (p.Arg687Leu)
c.1829G>T (p.Arg610Leu)
n.2075G>T
11g.77174791G>ACA475794542MYO7Ac.1971G>A (p.Arg657=)
c.36G>A (p.Arg12=)
c.1938G>A (p.Arg646=)
c.1740G>A (p.Arg580=)
c.1713G>A (p.Arg571=)
n.2291G>A
n.2293G>A
c.2061G>A (p.Arg687=)
c.1830G>A (p.Arg610=)
n.2076G>A
ClinVar dbSNP gnomAD v4
11g.77174791G>CCA475794543MYO7Ac.1971G>C (p.Arg657=)
c.36G>C (p.Arg12=)
c.1938G>C (p.Arg646=)
c.1740G>C (p.Arg580=)
c.1713G>C (p.Arg571=)
n.2291G>C
n.2293G>C
c.2061G>C (p.Arg687=)
c.1830G>C (p.Arg610=)
n.2076G>C
11g.77174791G=CA1984113624MYO7Ac.1971G= (p.Arg657=)
c.36G= (p.Arg12=)
c.1938G= (p.Arg646=)
c.1740G= (p.Arg580=)
c.1713G= (p.Arg571=)
n.2291G=
n.2293G=
c.2061G= (p.Arg687=)
c.1830G= (p.Arg610=)
n.2076G=
11g.77174791G>TCA475794544MYO7Ac.1971G>T (p.Arg657=)
c.36G>T (p.Arg12=)
c.1938G>T (p.Arg646=)
c.1740G>T (p.Arg580=)
c.1713G>T (p.Arg571=)
n.2291G>T
n.2293G>T
c.2061G>T (p.Arg687=)
c.1830G>T (p.Arg610=)
n.2076G>T
11g.77174792T>ACA381939185MYO7Ac.1972T>A (p.Tyr658Asn)
c.37T>A (p.Tyr13Asn)
c.1939T>A (p.Tyr647Asn)
c.1741T>A (p.Tyr581Asn)
c.1714T>A (p.Tyr572Asn)
n.2292T>A
n.2294T>A
c.2062T>A (p.Tyr688Asn)
c.1831T>A (p.Tyr611Asn)
n.2077T>A
11g.77174792T>CCA381939181MYO7Ac.1972T>C (p.Tyr658His)
c.37T>C (p.Tyr13His)
c.1939T>C (p.Tyr647His)
c.1741T>C (p.Tyr581His)
c.1714T>C (p.Tyr572His)
n.2292T>C
n.2294T>C
c.2062T>C (p.Tyr688His)
c.1831T>C (p.Tyr611His)
n.2077T>C
11g.77174792T>GCA381939183MYO7Ac.1972T>G (p.Tyr658Asp)
c.37T>G (p.Tyr13Asp)
c.1939T>G (p.Tyr647Asp)
c.1741T>G (p.Tyr581Asp)
c.1714T>G (p.Tyr572Asp)
n.2292T>G
n.2294T>G
c.2062T>G (p.Tyr688Asp)
c.1831T>G (p.Tyr611Asp)
n.2077T>G
11g.77174793A>CCA381939186MYO7Ac.1973A>C (p.Tyr658Ser)
c.38A>C (p.Tyr13Ser)
c.1940A>C (p.Tyr647Ser)
c.1742A>C (p.Tyr581Ser)
c.1715A>C (p.Tyr572Ser)
n.2293A>C
n.2295A>C
c.2063A>C (p.Tyr688Ser)
c.1832A>C (p.Tyr611Ser)
n.2078A>C
11g.77174793A>GCA381939187MYO7Ac.1973A>G (p.Tyr658Cys)
c.38A>G (p.Tyr13Cys)
c.1940A>G (p.Tyr647Cys)
c.1742A>G (p.Tyr581Cys)
c.1715A>G (p.Tyr572Cys)
n.2293A>G
n.2295A>G
c.2063A>G (p.Tyr688Cys)
c.1832A>G (p.Tyr611Cys)
n.2078A>G
11g.77174793A>TCA381939189MYO7Ac.1973A>T (p.Tyr658Phe)
c.38A>T (p.Tyr13Phe)
c.1940A>T (p.Tyr647Phe)
c.1742A>T (p.Tyr581Phe)
c.1715A>T (p.Tyr572Phe)
n.2293A>T
n.2295A>T
c.2063A>T (p.Tyr688Phe)
c.1832A>T (p.Tyr611Phe)
n.2078A>T
11g.77174794C>ACA381939191MYO7Ac.1974C>A (p.Tyr658Ter)
c.39C>A (p.Tyr13Ter)
c.1941C>A (p.Tyr647Ter)
c.1743C>A (p.Tyr581Ter)
c.1716C>A (p.Tyr572Ter)
n.2294C>A
n.2296C>A
c.2064C>A (p.Tyr688Ter)
c.1833C>A (p.Tyr611Ter)
n.2079C>A
ClinVar dbSNP gnomAD v4
11g.77174794C=CA1984113628MYO7Ac.1974C= (p.Tyr658=)
c.39C= (p.Tyr13=)
c.1941C= (p.Tyr647=)
c.1743C= (p.Tyr581=)
c.1716C= (p.Tyr572=)
n.2294C=
n.2296C=
c.2064C= (p.Tyr688=)
c.1833C= (p.Tyr611=)
n.2079C=
11g.77174794C>GCA381939192MYO7Ac.1974C>G (p.Tyr658Ter)
c.39C>G (p.Tyr13Ter)
c.1941C>G (p.Tyr647Ter)
c.1743C>G (p.Tyr581Ter)
c.1716C>G (p.Tyr572Ter)
n.2294C>G
n.2296C>G
c.2064C>G (p.Tyr688Ter)
c.1833C>G (p.Tyr611Ter)
n.2079C>G
ClinVar
11g.77174794C>TCA475794545MYO7Ac.1974C>T (p.Tyr658=)
c.39C>T (p.Tyr13=)
c.1941C>T (p.Tyr647=)
c.1743C>T (p.Tyr581=)
c.1716C>T (p.Tyr572=)
n.2294C>T
n.2296C>T
c.2064C>T (p.Tyr688=)
c.1833C>T (p.Tyr611=)
n.2079C>T
dbSNP
11g.77174795T>ACA381939194MYO7Ac.1975T>A (p.Ser659Thr)
c.40T>A (p.Ser14Thr)
c.1942T>A (p.Ser648Thr)
c.1744T>A (p.Ser582Thr)
c.1717T>A (p.Ser573Thr)
n.2295T>A
n.2297T>A
c.2065T>A (p.Ser689Thr)
c.1834T>A (p.Ser612Thr)
n.2080T>A
11g.77174795T>CCA381939195MYO7Ac.1975T>C (p.Ser659Pro)
c.40T>C (p.Ser14Pro)
c.1942T>C (p.Ser648Pro)
c.1744T>C (p.Ser582Pro)
c.1717T>C (p.Ser573Pro)
n.2295T>C
n.2297T>C
c.2065T>C (p.Ser689Pro)
c.1834T>C (p.Ser612Pro)
n.2080T>C
11g.77174795T>GCA381939197MYO7Ac.1975T>G (p.Ser659Ala)
c.40T>G (p.Ser14Ala)
c.1942T>G (p.Ser648Ala)
c.1744T>G (p.Ser582Ala)
c.1717T>G (p.Ser573Ala)
n.2295T>G
n.2297T>G
c.2065T>G (p.Ser689Ala)
c.1834T>G (p.Ser612Ala)
n.2080T>G
11g.77174796C>ACA10581681MYO7Ac.1976C>A (p.Ser659Ter)
c.41C>A (p.Ser14Ter)
c.1943C>A (p.Ser648Ter)
c.1745C>A (p.Ser582Ter)
c.1718C>A (p.Ser573Ter)
n.2296C>A
n.2298C>A
c.2066C>A (p.Ser689Ter)
c.1835C>A (p.Ser612Ter)
n.2081C>A
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.77174796C=CA1984113639MYO7Ac.1976C= (p.Ser659=)
c.41C= (p.Ser14=)
c.1943C= (p.Ser648=)
c.1745C= (p.Ser582=)
c.1718C= (p.Ser573=)
n.2296C=
n.2298C=
c.2066C= (p.Ser689=)
c.1835C= (p.Ser612=)
n.2081C=
11g.77174796C>GCA381939199MYO7Ac.1976C>G (p.Ser659Ter)
c.41C>G (p.Ser14Ter)
c.1943C>G (p.Ser648Ter)
c.1745C>G (p.Ser582Ter)
c.1718C>G (p.Ser573Ter)
n.2296C>G
n.2298C>G
c.2066C>G (p.Ser689Ter)
c.1835C>G (p.Ser612Ter)
n.2081C>G
11g.77174796C>TCA381939201MYO7Ac.1976C>T (p.Ser659Leu)
c.41C>T (p.Ser14Leu)
c.1943C>T (p.Ser648Leu)
c.1745C>T (p.Ser582Leu)
c.1718C>T (p.Ser573Leu)
n.2296C>T
n.2298C>T
c.2066C>T (p.Ser689Leu)
c.1835C>T (p.Ser612Leu)
n.2081C>T
11g.77174796_77174797delinsCACA1984113644MYO7Ac.1976_1977delinsCA (p.Ser659=)
c.41_42delinsCA (p.Ser14=)
c.1943_1944delinsCA (p.Ser648=)
c.1745_1746delinsCA (p.Ser582=)
c.1718_1719delinsCA (p.Ser573=)
n.2296_2297delinsCA
n.2298_2299delinsCA
c.2066_2067delinsCA (p.Ser689=)
c.1835_1836delinsCA (p.Ser612=)
n.2081_2082delinsCA
11g.77174797delCA645509493MYO7Ac.1977del (p.Gly660GlufsTer2)
c.42del (p.Gly15GlufsTer2)
c.1944del (p.Gly649GlufsTer2)
c.1746del (p.Gly583GlufsTer2)
c.1719del (p.Gly574GlufsTer2)
n.2297del
n.2299del
c.2067del (p.Gly690GlufsTer2)
c.1836del (p.Gly613GlufsTer2)
n.2082del
ClinVar dbSNP
11g.77174797A=CA1984113654MYO7Ac.1977A= (p.Ser659=)
c.42A= (p.Ser14=)
c.1944A= (p.Ser648=)
c.1746A= (p.Ser582=)
c.1719A= (p.Ser573=)
n.2297A=
n.2299A=
c.2067A= (p.Ser689=)
c.1836A= (p.Ser612=)
n.2082A=
11g.77174797A>CCA475794546MYO7Ac.1977A>C (p.Ser659=)
c.42A>C (p.Ser14=)
c.1944A>C (p.Ser648=)
c.1746A>C (p.Ser582=)
c.1719A>C (p.Ser573=)
n.2297A>C
n.2299A>C
c.2067A>C (p.Ser689=)
c.1836A>C (p.Ser612=)
n.2082A>C
11g.77174797A>GCA475794547MYO7Ac.1977A>G (p.Ser659=)
c.42A>G (p.Ser14=)
c.1944A>G (p.Ser648=)
c.1746A>G (p.Ser582=)
c.1719A>G (p.Ser573=)
n.2297A>G
n.2299A>G
c.2067A>G (p.Ser689=)
c.1836A>G (p.Ser612=)
n.2082A>G
dbSNP gnomAD v2
11g.77174797A>TCA475794548MYO7Ac.1977A>T (p.Ser659=)
c.42A>T (p.Ser14=)
c.1944A>T (p.Ser648=)
c.1746A>T (p.Ser582=)
c.1719A>T (p.Ser573=)
n.2297A>T
n.2299A>T
c.2067A>T (p.Ser689=)
c.1836A>T (p.Ser612=)
n.2082A>T
11g.77174797_77174798delCA2574931094MYO7Ac.1977_1978del (p.Gly660AsnfsTer?)
c.42_43del (p.Gly15AsnfsTer?)
c.1944_1945del (p.Gly649AsnfsTer?)
c.1746_1747del (p.Gly583AsnfsTer?)
c.1719_1720del (p.Gly574AsnfsTer?)
n.2297_2298del
n.2299_2300del
c.2067_2068del (p.Gly690AsnfsTer?)
c.1836_1837del (p.Gly613AsnfsTer?)
n.2082_2083del
11g.77174798G>ACA381939206MYO7Ac.1978G>A (p.Gly660Arg)
c.43G>A (p.Gly15Arg)
c.1945G>A (p.Gly649Arg)
c.1747G>A (p.Gly583Arg)
c.1720G>A (p.Gly574Arg)
n.2298G>A
n.2300G>A
c.2068G>A (p.Gly690Arg)
c.1837G>A (p.Gly613Arg)
n.2083G>A
COSMIC
11g.77174798G>CCA381939204MYO7Ac.1978G>C (p.Gly660Arg)
c.43G>C (p.Gly15Arg)
c.1945G>C (p.Gly649Arg)
c.1747G>C (p.Gly583Arg)
c.1720G>C (p.Gly574Arg)
n.2298G>C
n.2300G>C
c.2068G>C (p.Gly690Arg)
c.1837G>C (p.Gly613Arg)
n.2083G>C
11g.77174798G>TCA381939203MYO7Ac.1978G>T (p.Gly660Ter)
c.43G>T (p.Gly15Ter)
c.1945G>T (p.Gly649Ter)
c.1747G>T (p.Gly583Ter)
c.1720G>T (p.Gly574Ter)
n.2298G>T
n.2300G>T
c.2068G>T (p.Gly690Ter)
c.1837G>T (p.Gly613Ter)
n.2083G>T
11g.77174799G>ACA381939211MYO7Ac.1979G>A (p.Gly660Glu)
c.44G>A (p.Gly15Glu)
c.1946G>A (p.Gly649Glu)
c.1748G>A (p.Gly583Glu)
c.1721G>A (p.Gly574Glu)
n.2299G>A
n.2301G>A
c.2069G>A (p.Gly690Glu)
c.1838G>A (p.Gly613Glu)
n.2084G>A
11g.77174799G>CCA381939208MYO7Ac.1979G>C (p.Gly660Ala)
c.44G>C (p.Gly15Ala)
c.1946G>C (p.Gly649Ala)
c.1748G>C (p.Gly583Ala)
c.1721G>C (p.Gly574Ala)
n.2299G>C
n.2301G>C
c.2069G>C (p.Gly690Ala)
c.1838G>C (p.Gly613Ala)
n.2084G>C
gnomAD v4
11g.77174799G=CA1984113660MYO7Ac.1979G= (p.Gly660=)
c.44G= (p.Gly15=)
c.1946G= (p.Gly649=)
c.1748G= (p.Gly583=)
c.1721G= (p.Gly574=)
n.2299G=
n.2301G=
c.2069G= (p.Gly690=)
c.1838G= (p.Gly613=)
n.2084G=
11g.77174799G>TCA381939209MYO7Ac.1979G>T (p.Gly660Val)
c.44G>T (p.Gly15Val)
c.1946G>T (p.Gly649Val)
c.1748G>T (p.Gly583Val)
c.1721G>T (p.Gly574Val)
n.2299G>T
n.2301G>T
c.2069G>T (p.Gly690Val)
c.1838G>T (p.Gly613Val)
n.2084G>T
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77174800A>CCA475794551MYO7Ac.1980A>C (p.Gly660=)
c.45A>C (p.Gly15=)
c.1947A>C (p.Gly649=)
c.1749A>C (p.Gly583=)
c.1722A>C (p.Gly574=)
n.2300A>C
n.2302A>C
c.2070A>C (p.Gly690=)
c.1839A>C (p.Gly613=)
n.2085A>C
11g.77174800A>GCA475794549MYO7Ac.1980A>G (p.Gly660=)
c.45A>G (p.Gly15=)
c.1947A>G (p.Gly649=)
c.1749A>G (p.Gly583=)
c.1722A>G (p.Gly574=)
n.2300A>G
n.2302A>G
c.2070A>G (p.Gly690=)
c.1839A>G (p.Gly613=)
n.2085A>G
11g.77174800A>TCA475794550MYO7Ac.1980A>T (p.Gly660=)
c.45A>T (p.Gly15=)
c.1947A>T (p.Gly649=)
c.1749A>T (p.Gly583=)
c.1722A>T (p.Gly574=)
n.2300A>T
n.2302A>T
c.2070A>T (p.Gly690=)
c.1839A>T (p.Gly613=)
n.2085A>T
ClinVar
11g.77174801A>CCA381939212MYO7Ac.1981A>C (p.Met661Leu)
c.46A>C (p.Met16Leu)
c.1948A>C (p.Met650Leu)
c.1750A>C (p.Met584Leu)
c.1723A>C (p.Met575Leu)
n.2301A>C
n.2303A>C
c.2071A>C (p.Met691Leu)
c.1840A>C (p.Met614Leu)
n.2086A>C
11g.77174801A>GCA381939214MYO7Ac.1981A>G (p.Met661Val)
c.46A>G (p.Met16Val)
c.1948A>G (p.Met650Val)
c.1750A>G (p.Met584Val)
c.1723A>G (p.Met575Val)
n.2301A>G
n.2303A>G
c.2071A>G (p.Met691Val)
c.1840A>G (p.Met614Val)
n.2086A>G
11g.77174801A>TCA381939216MYO7Ac.1981A>T (p.Met661Leu)
c.46A>T (p.Met16Leu)
c.1948A>T (p.Met650Leu)
c.1750A>T (p.Met584Leu)
c.1723A>T (p.Met575Leu)
n.2301A>T
n.2303A>T
c.2071A>T (p.Met691Leu)
c.1840A>T (p.Met614Leu)
n.2086A>T
11g.77174802T>ACA381939220MYO7Ac.1982T>A (p.Met661Lys)
c.47T>A (p.Met16Lys)
c.1949T>A (p.Met650Lys)
c.1751T>A (p.Met584Lys)
c.1724T>A (p.Met575Lys)
n.2302T>A
n.2304T>A
c.2072T>A (p.Met691Lys)
c.1841T>A (p.Met614Lys)
n.2087T>A
11g.77174802T>CCA381939219MYO7Ac.1982T>C (p.Met661Thr)
c.47T>C (p.Met16Thr)
c.1949T>C (p.Met650Thr)
c.1751T>C (p.Met584Thr)
c.1724T>C (p.Met575Thr)
n.2302T>C
n.2304T>C
c.2072T>C (p.Met691Thr)
c.1841T>C (p.Met614Thr)
n.2087T>C
11g.77174802T>GCA381939218MYO7Ac.1982T>G (p.Met661Arg)
c.47T>G (p.Met16Arg)
c.1949T>G (p.Met650Arg)
c.1751T>G (p.Met584Arg)
c.1724T>G (p.Met575Arg)
n.2302T>G
n.2304T>G
c.2072T>G (p.Met691Arg)
c.1841T>G (p.Met614Arg)
n.2087T>G
11g.77174803G>ACA381939222MYO7Ac.1983G>A (p.Met661Ile)
c.48G>A (p.Met16Ile)
c.1950G>A (p.Met650Ile)
c.1752G>A (p.Met584Ile)
c.1725G>A (p.Met575Ile)
n.2303G>A
n.2305G>A
c.2073G>A (p.Met691Ile)
c.1842G>A (p.Met614Ile)
n.2088G>A
11g.77174803G>CCA381939224MYO7Ac.1983G>C (p.Met661Ile)
c.48G>C (p.Met16Ile)
c.1950G>C (p.Met650Ile)
c.1752G>C (p.Met584Ile)
c.1725G>C (p.Met575Ile)
n.2303G>C
n.2305G>C
c.2073G>C (p.Met691Ile)
c.1842G>C (p.Met614Ile)
n.2088G>C
11g.77174803G>TCA381939226MYO7Ac.1983G>T (p.Met661Ile)
c.48G>T (p.Met16Ile)
c.1950G>T (p.Met650Ile)
c.1752G>T (p.Met584Ile)
c.1725G>T (p.Met575Ile)
n.2303G>T
n.2305G>T
c.2073G>T (p.Met691Ile)
c.1842G>T (p.Met614Ile)
n.2088G>T
11g.77174804A=CA1984113673MYO7Ac.1984A= (p.Met662=)
c.49A= (p.Met17=)
c.1951A= (p.Met651=)
c.1753A= (p.Met585=)
c.1726A= (p.Met576=)
n.2304A=
n.2306A=
c.2074A= (p.Met692=)
c.1843A= (p.Met615=)
n.2089A=
11g.77174804A>CCA381939227MYO7Ac.1984A>C (p.Met662Leu)
c.49A>C (p.Met17Leu)
c.1951A>C (p.Met651Leu)
c.1753A>C (p.Met585Leu)
c.1726A>C (p.Met576Leu)
n.2304A>C
n.2306A>C
c.2074A>C (p.Met692Leu)
c.1843A>C (p.Met615Leu)
n.2089A>C
11g.77174804A>GCA381939228MYO7Ac.1984A>G (p.Met662Val)
c.49A>G (p.Met17Val)
c.1951A>G (p.Met651Val)
c.1753A>G (p.Met585Val)
c.1726A>G (p.Met576Val)
n.2304A>G
n.2306A>G
c.2074A>G (p.Met692Val)
c.1843A>G (p.Met615Val)
n.2089A>G
11g.77174804A>TCA6197657MYO7Ac.1984A>T (p.Met662Leu)
c.49A>T (p.Met17Leu)
c.1951A>T (p.Met651Leu)
c.1753A>T (p.Met585Leu)
c.1726A>T (p.Met576Leu)
n.2304A>T
n.2306A>T
c.2074A>T (p.Met692Leu)
c.1843A>T (p.Met615Leu)
n.2089A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174805T>ACA381939230MYO7Ac.1985T>A (p.Met662Lys)
c.50T>A (p.Met17Lys)
c.1952T>A (p.Met651Lys)
c.1754T>A (p.Met585Lys)
c.1727T>A (p.Met576Lys)
n.2305T>A
n.2307T>A
c.2075T>A (p.Met692Lys)
c.1844T>A (p.Met615Lys)
n.2090T>A
gnomAD v4
11g.77174805T>CCA381939233MYO7Ac.1985T>C (p.Met662Thr)
c.50T>C (p.Met17Thr)
c.1952T>C (p.Met651Thr)
c.1754T>C (p.Met585Thr)
c.1727T>C (p.Met576Thr)
n.2305T>C
n.2307T>C
c.2075T>C (p.Met692Thr)
c.1844T>C (p.Met615Thr)
n.2090T>C
11g.77174805T>GCA381939231MYO7Ac.1985T>G (p.Met662Arg)
c.50T>G (p.Met17Arg)
c.1952T>G (p.Met651Arg)
c.1754T>G (p.Met585Arg)
c.1727T>G (p.Met576Arg)
n.2305T>G
n.2307T>G
c.2075T>G (p.Met692Arg)
c.1844T>G (p.Met615Arg)
n.2090T>G
11g.77174806G>ACA381939235MYO7Ac.1986G>A (p.Met662Ile)
c.51G>A (p.Met17Ile)
c.1953G>A (p.Met651Ile)
c.1755G>A (p.Met585Ile)
c.1728G>A (p.Met576Ile)
n.2306G>A
n.2308G>A
c.2076G>A (p.Met692Ile)
c.1845G>A (p.Met615Ile)
n.2091G>A
11g.77174806G>CCA381939236MYO7Ac.1986G>C (p.Met662Ile)
c.51G>C (p.Met17Ile)
c.1953G>C (p.Met651Ile)
c.1755G>C (p.Met585Ile)
c.1728G>C (p.Met576Ile)
n.2306G>C
n.2308G>C
c.2076G>C (p.Met692Ile)
c.1845G>C (p.Met615Ile)
n.2091G>C
11g.77174806G>TCA381939237MYO7Ac.1986G>T (p.Met662Ile)
c.51G>T (p.Met17Ile)
c.1953G>T (p.Met651Ile)
c.1755G>T (p.Met585Ile)
c.1728G>T (p.Met576Ile)
n.2306G>T
n.2308G>T
c.2076G>T (p.Met692Ile)
c.1845G>T (p.Met615Ile)
n.2091G>T
11g.77174807G>ACA381939239MYO7Ac.1987G>A (p.Glu663Lys)
c.52G>A (p.Glu18Lys)
c.1954G>A (p.Glu652Lys)
c.1756G>A (p.Glu586Lys)
c.1729G>A (p.Glu577Lys)
n.2307G>A
n.2309G>A
c.2077G>A (p.Glu693Lys)
c.1846G>A (p.Glu616Lys)
n.2092G>A
11g.77174807G>CCA381939241MYO7Ac.1987G>C (p.Glu663Gln)
c.52G>C (p.Glu18Gln)
c.1954G>C (p.Glu652Gln)
c.1756G>C (p.Glu586Gln)
c.1729G>C (p.Glu577Gln)
n.2307G>C
n.2309G>C
c.2077G>C (p.Glu693Gln)
c.1846G>C (p.Glu616Gln)
n.2092G>C
11g.77174807G>TCA381939243MYO7Ac.1987G>T (p.Glu663Ter)
c.52G>T (p.Glu18Ter)
c.1954G>T (p.Glu652Ter)
c.1756G>T (p.Glu586Ter)
c.1729G>T (p.Glu577Ter)
n.2307G>T
n.2309G>T
c.2077G>T (p.Glu693Ter)
c.1846G>T (p.Glu616Ter)
n.2092G>T
11g.77174808A>CCA381939244MYO7Ac.1988A>C (p.Glu663Ala)
c.53A>C (p.Glu18Ala)
c.1955A>C (p.Glu652Ala)
c.1757A>C (p.Glu586Ala)
c.1730A>C (p.Glu577Ala)
n.2308A>C
n.2310A>C
c.2078A>C (p.Glu693Ala)
c.1847A>C (p.Glu616Ala)
n.2093A>C
11g.77174808A>GCA381939246MYO7Ac.1988A>G (p.Glu663Gly)
c.53A>G (p.Glu18Gly)
c.1955A>G (p.Glu652Gly)
c.1757A>G (p.Glu586Gly)
c.1730A>G (p.Glu577Gly)
n.2308A>G
n.2310A>G
c.2078A>G (p.Glu693Gly)
c.1847A>G (p.Glu616Gly)
n.2093A>G
11g.77174808A>TCA381939247MYO7Ac.1988A>T (p.Glu663Val)
c.53A>T (p.Glu18Val)
c.1955A>T (p.Glu652Val)
c.1757A>T (p.Glu586Val)
c.1730A>T (p.Glu577Val)
n.2308A>T
n.2310A>T
c.2078A>T (p.Glu693Val)
c.1847A>T (p.Glu616Val)
n.2093A>T
11g.77174809G>ACA475794556MYO7Ac.1989G>A (p.Glu663=)
c.54G>A (p.Glu18=)
c.1956G>A (p.Glu652=)
c.1758G>A (p.Glu586=)
c.1731G>A (p.Glu577=)
n.2309G>A
n.2311G>A
c.2079G>A (p.Glu693=)
c.1848G>A (p.Glu616=)
n.2094G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77174809G>CCA381939249MYO7Ac.1989G>C (p.Glu663Asp)
c.54G>C (p.Glu18Asp)
c.1956G>C (p.Glu652Asp)
c.1758G>C (p.Glu586Asp)
c.1731G>C (p.Glu577Asp)
n.2309G>C
n.2311G>C
c.2079G>C (p.Glu693Asp)
c.1848G>C (p.Glu616Asp)
n.2094G>C
11g.77174809G=CA1984113680MYO7Ac.1989G= (p.Glu663=)
c.54G= (p.Glu18=)
c.1956G= (p.Glu652=)
c.1758G= (p.Glu586=)
c.1731G= (p.Glu577=)
n.2309G=
n.2311G=
c.2079G= (p.Glu693=)
c.1848G= (p.Glu616=)
n.2094G=
11g.77174809G>TCA381939251MYO7Ac.1989G>T (p.Glu663Asp)
c.54G>T (p.Glu18Asp)
c.1956G>T (p.Glu652Asp)
c.1758G>T (p.Glu586Asp)
c.1731G>T (p.Glu577Asp)
n.2309G>T
n.2311G>T
c.2079G>T (p.Glu693Asp)
c.1848G>T (p.Glu616Asp)
n.2094G>T
11g.77174810A=CA1984113688MYO7Ac.1990A= (p.Thr664=)
c.55A= (p.Thr19=)
c.1957A= (p.Thr653=)
c.1759A= (p.Thr587=)
c.1732A= (p.Thr578=)
n.2310A=
n.2312A=
c.2080A= (p.Thr694=)
c.1849A= (p.Thr617=)
n.2095A=
11g.77174810A>CCA381939254MYO7Ac.1990A>C (p.Thr664Pro)
c.55A>C (p.Thr19Pro)
c.1957A>C (p.Thr653Pro)
c.1759A>C (p.Thr587Pro)
c.1732A>C (p.Thr578Pro)
n.2310A>C
n.2312A>C
c.2080A>C (p.Thr694Pro)
c.1849A>C (p.Thr617Pro)
n.2095A>C
11g.77174810A>GCA6197658MYO7Ac.1990A>G (p.Thr664Ala)
c.55A>G (p.Thr19Ala)
c.1957A>G (p.Thr653Ala)
c.1759A>G (p.Thr587Ala)
c.1732A>G (p.Thr578Ala)
n.2310A>G
n.2312A>G
c.2080A>G (p.Thr694Ala)
c.1849A>G (p.Thr617Ala)
n.2095A>G
dbSNP ExAC gnomAD v2 gnomAD v4
11g.77174810A>TCA381939252MYO7Ac.1990A>T (p.Thr664Ser)
c.55A>T (p.Thr19Ser)
c.1957A>T (p.Thr653Ser)
c.1759A>T (p.Thr587Ser)
c.1732A>T (p.Thr578Ser)
n.2310A>T
n.2312A>T
c.2080A>T (p.Thr694Ser)
c.1849A>T (p.Thr617Ser)
n.2095A>T
11g.77174811C>ACA381939256MYO7Ac.1991C>A (p.Thr664Asn)
c.56C>A (p.Thr19Asn)
c.1958C>A (p.Thr653Asn)
c.1760C>A (p.Thr587Asn)
c.1733C>A (p.Thr578Asn)
n.2311C>A
n.2313C>A
c.2081C>A (p.Thr694Asn)
c.1850C>A (p.Thr617Asn)
n.2096C>A
11g.77174811C>GCA381939259MYO7Ac.1991C>G (p.Thr664Ser)
c.56C>G (p.Thr19Ser)
c.1958C>G (p.Thr653Ser)
c.1760C>G (p.Thr587Ser)
c.1733C>G (p.Thr578Ser)
n.2311C>G
n.2313C>G
c.2081C>G (p.Thr694Ser)
c.1850C>G (p.Thr617Ser)
n.2096C>G
11g.77174811C>TCA381939258MYO7Ac.1991C>T (p.Thr664Ile)
c.56C>T (p.Thr19Ile)
c.1958C>T (p.Thr653Ile)
c.1760C>T (p.Thr587Ile)
c.1733C>T (p.Thr578Ile)
n.2311C>T
n.2313C>T
c.2081C>T (p.Thr694Ile)
c.1850C>T (p.Thr617Ile)
n.2096C>T
11g.77174812C>ACA475794557MYO7Ac.1992C>A (p.Thr664=)
c.57C>A (p.Thr19=)
c.1959C>A (p.Thr653=)
c.1761C>A (p.Thr587=)
c.1734C>A (p.Thr578=)
n.2312C>A
n.2314C>A
c.2082C>A (p.Thr694=)
c.1851C>A (p.Thr617=)
n.2097C>A
11g.77174812C>GCA475794559MYO7Ac.1992C>G (p.Thr664=)
c.57C>G (p.Thr19=)
c.1959C>G (p.Thr653=)
c.1761C>G (p.Thr587=)
c.1734C>G (p.Thr578=)
n.2312C>G
n.2314C>G
c.2082C>G (p.Thr694=)
c.1851C>G (p.Thr617=)
n.2097C>G
11g.77174812C>TCA475794558MYO7Ac.1992C>T (p.Thr664=)
c.57C>T (p.Thr19=)
c.1959C>T (p.Thr653=)
c.1761C>T (p.Thr587=)
c.1734C>T (p.Thr578=)
n.2312C>T
n.2314C>T
c.2082C>T (p.Thr694=)
c.1851C>T (p.Thr617=)
n.2097C>T
11g.77174813A=CA1984113695MYO7Ac.1993A= (p.Ile665=)
c.58A= (p.Ile20=)
c.1960A= (p.Ile654=)
c.1762A= (p.Ile588=)
c.1735A= (p.Ile579=)
n.2313A=
n.2315A=
c.2083A= (p.Ile695=)
c.1852A= (p.Ile618=)
n.2098A=
11g.77174813A>CCA381939261MYO7Ac.1993A>C (p.Ile665Leu)
c.58A>C (p.Ile20Leu)
c.1960A>C (p.Ile654Leu)
c.1762A>C (p.Ile588Leu)
c.1735A>C (p.Ile579Leu)
n.2313A>C
n.2315A>C
c.2083A>C (p.Ile695Leu)
c.1852A>C (p.Ile618Leu)
n.2098A>C
11g.77174813A>GCA381939263MYO7Ac.1993A>G (p.Ile665Val)
c.58A>G (p.Ile20Val)
c.1960A>G (p.Ile654Val)
c.1762A>G (p.Ile588Val)
c.1735A>G (p.Ile579Val)
n.2313A>G
n.2315A>G
c.2083A>G (p.Ile695Val)
c.1852A>G (p.Ile618Val)
n.2098A>G
dbSNP gnomAD v2 gnomAD v4
11g.77174813A>TCA381939264MYO7Ac.1993A>T (p.Ile665Phe)
c.58A>T (p.Ile20Phe)
c.1960A>T (p.Ile654Phe)
c.1762A>T (p.Ile588Phe)
c.1735A>T (p.Ile579Phe)
n.2313A>T
n.2315A>T
c.2083A>T (p.Ile695Phe)
c.1852A>T (p.Ile618Phe)
n.2098A>T
11g.77174814T>ACA381939265MYO7Ac.1994T>A (p.Ile665Asn)
c.59T>A (p.Ile20Asn)
c.1961T>A (p.Ile654Asn)
c.1763T>A (p.Ile588Asn)
c.1736T>A (p.Ile579Asn)
n.2314T>A
n.2316T>A
c.2084T>A (p.Ile695Asn)
c.1853T>A (p.Ile618Asn)
n.2099T>A
gnomAD v4
11g.77174814T>CCA381939266MYO7Ac.1994T>C (p.Ile665Thr)
c.59T>C (p.Ile20Thr)
c.1961T>C (p.Ile654Thr)
c.1763T>C (p.Ile588Thr)
c.1736T>C (p.Ile579Thr)
n.2314T>C
n.2316T>C
c.2084T>C (p.Ile695Thr)
c.1853T>C (p.Ile618Thr)
n.2099T>C
11g.77174814T>GCA381939268MYO7Ac.1994T>G (p.Ile665Ser)
c.59T>G (p.Ile20Ser)
c.1961T>G (p.Ile654Ser)
c.1763T>G (p.Ile588Ser)
c.1736T>G (p.Ile579Ser)
n.2314T>G
n.2316T>G
c.2084T>G (p.Ile695Ser)
c.1853T>G (p.Ile618Ser)
n.2099T>G
11g.77174815C>ACA475794560MYO7Ac.1995C>A (p.Ile665=)
c.60C>A (p.Ile20=)
c.1962C>A (p.Ile654=)
c.1764C>A (p.Ile588=)
c.1737C>A (p.Ile579=)
n.2315C>A
n.2317C>A
c.2085C>A (p.Ile695=)
c.1854C>A (p.Ile618=)
n.2100C>A
11g.77174815C>GCA381939269MYO7Ac.1995C>G (p.Ile665Met)
c.60C>G (p.Ile20Met)
c.1962C>G (p.Ile654Met)
c.1764C>G (p.Ile588Met)
c.1737C>G (p.Ile579Met)
n.2315C>G
n.2317C>G
c.2085C>G (p.Ile695Met)
c.1854C>G (p.Ile618Met)
n.2100C>G
11g.77174815C>TCA475794561MYO7Ac.1995C>T (p.Ile665=)
c.60C>T (p.Ile20=)
c.1962C>T (p.Ile654=)
c.1764C>T (p.Ile588=)
c.1737C>T (p.Ile579=)
n.2315C>T
n.2317C>T
c.2085C>T (p.Ile695=)
c.1854C>T (p.Ile618=)
n.2100C>T
gnomAD v4
11g.77174816C>ACA475794562MYO7Ac.1996C>A (p.Arg666=)
c.61C>A (p.Arg21=)
c.1963C>A (p.Arg655=)
c.1765C>A (p.Arg589=)
c.1738C>A (p.Arg580=)
n.2316C>A
n.2318C>A
c.2086C>A (p.Arg696=)
c.1855C>A (p.Arg619=)
n.2101C>A
gnomAD v4
11g.77174816C=CA1984113705MYO7Ac.1996C= (p.Arg666=)
c.61C= (p.Arg21=)
c.1963C= (p.Arg655=)
c.1765C= (p.Arg589=)
c.1738C= (p.Arg580=)
n.2316C=
n.2318C=
c.2086C= (p.Arg696=)
c.1855C= (p.Arg619=)
n.2101C=
11g.77174816C>GCA381939270MYO7Ac.1996C>G (p.Arg666Gly)
c.61C>G (p.Arg21Gly)
c.1963C>G (p.Arg655Gly)
c.1765C>G (p.Arg589Gly)
c.1738C>G (p.Arg580Gly)
n.2316C>G
n.2318C>G
c.2086C>G (p.Arg696Gly)
c.1855C>G (p.Arg619Gly)
n.2101C>G
11g.77174816C>TCA277967MYO7Ac.1996C>T (p.Arg666Ter)
c.61C>T (p.Arg21Ter)
c.1963C>T (p.Arg655Ter)
c.1765C>T (p.Arg589Ter)
c.1738C>T (p.Arg580Ter)
n.2316C>T
n.2318C>T
c.2086C>T (p.Arg696Ter)
c.1855C>T (p.Arg619Ter)
n.2101C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174817G>ACA6197659MYO7Ac.1997G>A (p.Arg666Gln)
c.62G>A (p.Arg21Gln)
c.1964G>A (p.Arg655Gln)
c.1766G>A (p.Arg589Gln)
c.1739G>A (p.Arg580Gln)
n.2317G>A
n.2319G>A
c.2087G>A (p.Arg696Gln)
c.1856G>A (p.Arg619Gln)
n.2102G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77174817G>CCA381939272MYO7Ac.1997G>C (p.Arg666Pro)
c.62G>C (p.Arg21Pro)
c.1964G>C (p.Arg655Pro)
c.1766G>C (p.Arg589Pro)
c.1739G>C (p.Arg580Pro)
n.2317G>C
n.2319G>C
c.2087G>C (p.Arg696Pro)
c.1856G>C (p.Arg619Pro)
n.2102G>C
ClinVar dbSNP
11g.77174817G=CA1984113718MYO7Ac.1997G= (p.Arg666=)
c.62G= (p.Arg21=)
c.1964G= (p.Arg655=)
c.1766G= (p.Arg589=)
c.1739G= (p.Arg580=)
n.2317G=
n.2319G=
c.2087G= (p.Arg696=)
c.1856G= (p.Arg619=)
n.2102G=
11g.77174817G>TCA381939274MYO7Ac.1997G>T (p.Arg666Leu)
c.62G>T (p.Arg21Leu)
c.1964G>T (p.Arg655Leu)
c.1766G>T (p.Arg589Leu)
c.1739G>T (p.Arg580Leu)
n.2317G>T
n.2319G>T
c.2087G>T (p.Arg696Leu)
c.1856G>T (p.Arg619Leu)
n.2102G>T
11g.77174818A>CCA475794563MYO7Ac.1998A>C (p.Arg666=)
c.63A>C (p.Arg21=)
c.1965A>C (p.Arg655=)
c.1767A>C (p.Arg589=)
c.1740A>C (p.Arg580=)
n.2318A>C
n.2320A>C
c.2088A>C (p.Arg696=)
c.1857A>C (p.Arg619=)
n.2103A>C
11g.77174818A>GCA475794564MYO7Ac.1998A>G (p.Arg666=)
c.63A>G (p.Arg21=)
c.1965A>G (p.Arg655=)
c.1767A>G (p.Arg589=)
c.1740A>G (p.Arg580=)
n.2318A>G
n.2320A>G
c.2088A>G (p.Arg696=)
c.1857A>G (p.Arg619=)
n.2103A>G
11g.77174818A>TCA475794566MYO7Ac.1998A>T (p.Arg666=)
c.63A>T (p.Arg21=)
c.1965A>T (p.Arg655=)
c.1767A>T (p.Arg589=)
c.1740A>T (p.Arg580=)
n.2318A>T
n.2320A>T
c.2088A>T (p.Arg696=)
c.1857A>T (p.Arg619=)
n.2103A>T
11g.77174819A>CCA381939279MYO7Ac.1999A>C (p.Ile667Leu)
c.64A>C (p.Ile22Leu)
c.1966A>C (p.Ile656Leu)
c.1768A>C (p.Ile590Leu)
c.1741A>C (p.Ile581Leu)
n.2319A>C
n.2321A>C
c.2089A>C (p.Ile697Leu)
c.1858A>C (p.Ile620Leu)
n.2104A>C
11g.77174819A>GCA381939276MYO7Ac.1999A>G (p.Ile667Val)
c.64A>G (p.Ile22Val)
c.1966A>G (p.Ile656Val)
c.1768A>G (p.Ile590Val)
c.1741A>G (p.Ile581Val)
n.2319A>G
n.2321A>G
c.2089A>G (p.Ile697Val)
c.1858A>G (p.Ile620Val)
n.2104A>G
11g.77174819A>TCA381939278MYO7Ac.1999A>T (p.Ile667Phe)
c.64A>T (p.Ile22Phe)
c.1966A>T (p.Ile656Phe)
c.1768A>T (p.Ile590Phe)
c.1741A>T (p.Ile581Phe)
n.2319A>T
n.2321A>T
c.2089A>T (p.Ile697Phe)
c.1858A>T (p.Ile620Phe)
n.2104A>T
11g.77174820T>ACA381939281MYO7Ac.2000T>A (p.Ile667Asn)
c.65T>A (p.Ile22Asn)
c.1967T>A (p.Ile656Asn)
c.1769T>A (p.Ile590Asn)
c.1742T>A (p.Ile581Asn)
n.2320T>A
n.2322T>A
c.2090T>A (p.Ile697Asn)
c.1859T>A (p.Ile620Asn)
n.2105T>A
gnomAD v4
11g.77174820T>CCA381939282MYO7Ac.2000T>C (p.Ile667Thr)
c.65T>C (p.Ile22Thr)
c.1967T>C (p.Ile656Thr)
c.1769T>C (p.Ile590Thr)
c.1742T>C (p.Ile581Thr)
n.2320T>C
n.2322T>C
c.2090T>C (p.Ile697Thr)
c.1859T>C (p.Ile620Thr)
n.2105T>C
11g.77174820T>GCA381939284MYO7Ac.2000T>G (p.Ile667Ser)
c.65T>G (p.Ile22Ser)
c.1967T>G (p.Ile656Ser)
c.1769T>G (p.Ile590Ser)
c.1742T>G (p.Ile581Ser)
n.2320T>G
n.2322T>G
c.2090T>G (p.Ile697Ser)
c.1859T>G (p.Ile620Ser)
n.2105T>G
11g.77174821C>ACA6197660MYO7Ac.2001C>A (p.Ile667=)
c.66C>A (p.Ile22=)
c.1968C>A (p.Ile656=)
c.1770C>A (p.Ile590=)
c.1743C>A (p.Ile581=)
n.2321C>A
n.2323C>A
c.2091C>A (p.Ile697=)
c.1860C>A (p.Ile620=)
n.2106C>A
dbSNP ExAC gnomAD v2 gnomAD v4
11g.77174821C=CA1984113730MYO7Ac.2001C= (p.Ile667=)
c.66C= (p.Ile22=)
c.1968C= (p.Ile656=)
c.1770C= (p.Ile590=)
c.1743C= (p.Ile581=)
n.2321C=
n.2323C=
c.2091C= (p.Ile697=)
c.1860C= (p.Ile620=)
n.2106C=
11g.77174821C>GCA381939286MYO7Ac.2001C>G (p.Ile667Met)
c.66C>G (p.Ile22Met)
c.1968C>G (p.Ile656Met)
c.1770C>G (p.Ile590Met)
c.1743C>G (p.Ile581Met)
n.2321C>G
n.2323C>G
c.2091C>G (p.Ile697Met)
c.1860C>G (p.Ile620Met)
n.2106C>G
11g.77174821C>TCA475794567MYO7Ac.2001C>T (p.Ile667=)
c.66C>T (p.Ile22=)
c.1968C>T (p.Ile656=)
c.1770C>T (p.Ile590=)
c.1743C>T (p.Ile581=)
n.2321C>T
n.2323C>T
c.2091C>T (p.Ile697=)
c.1860C>T (p.Ile620=)
n.2106C>T
ClinVar dbSNP
11g.77174822C>ACA381939288MYO7Ac.2002C>A (p.Arg668Ser)
c.67C>A (p.Arg23Ser)
c.1969C>A (p.Arg657Ser)
c.1771C>A (p.Arg591Ser)
c.1744C>A (p.Arg582Ser)
n.2322C>A
n.2324C>A
c.2092C>A (p.Arg698Ser)
c.1861C>A (p.Arg621Ser)
n.2107C>A
11g.77174822C=CA1984113746MYO7Ac.2002C= (p.Arg668=)
c.67C= (p.Arg23=)
c.1969C= (p.Arg657=)
c.1771C= (p.Arg591=)
c.1744C= (p.Arg582=)
n.2322C=
n.2324C=
c.2092C= (p.Arg698=)
c.1861C= (p.Arg621=)
n.2107C=
11g.77174822C>GCA381939289MYO7Ac.2002C>G (p.Arg668Gly)
c.67C>G (p.Arg23Gly)
c.1969C>G (p.Arg657Gly)
c.1771C>G (p.Arg591Gly)
c.1744C>G (p.Arg582Gly)
n.2322C>G
n.2324C>G
c.2092C>G (p.Arg698Gly)
c.1861C>G (p.Arg621Gly)
n.2107C>G
11g.77174822C>TCA132231MYO7Ac.2002C>T (p.Arg668Cys)
c.67C>T (p.Arg23Cys)
c.1969C>T (p.Arg657Cys)
c.1771C>T (p.Arg591Cys)
c.1744C>T (p.Arg582Cys)
n.2322C>T
n.2324C>T
c.2092C>T (p.Arg698Cys)
c.1861C>T (p.Arg621Cys)
n.2107C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174823G>ACA224837120MYO7Ac.2003G>A (p.Arg668His)
c.68G>A (p.Arg23His)
c.1970G>A (p.Arg657His)
c.1772G>A (p.Arg591His)
c.1745G>A (p.Arg582His)
n.2323G>A
n.2325G>A
c.2093G>A (p.Arg698His)
c.1862G>A (p.Arg621His)
n.2108G>A
ClinVar dbSNP gnomAD v4
11g.77174823G>CCA6197661MYO7Ac.2003G>C (p.Arg668Pro)
c.68G>C (p.Arg23Pro)
c.1970G>C (p.Arg657Pro)
c.1772G>C (p.Arg591Pro)
c.1745G>C (p.Arg582Pro)
n.2323G>C
n.2325G>C
c.2093G>C (p.Arg698Pro)
c.1862G>C (p.Arg621Pro)
n.2108G>C
ClinVar dbSNP ExAC gnomAD v2
11g.77174823G=CA1984113765MYO7Ac.2003G= (p.Arg668=)
c.68G= (p.Arg23=)
c.1970G= (p.Arg657=)
c.1772G= (p.Arg591=)
c.1745G= (p.Arg582=)
n.2323G=
n.2325G=
c.2093G= (p.Arg698=)
c.1862G= (p.Arg621=)
n.2108G=
11g.77174823G>TCA381939293MYO7Ac.2003G>T (p.Arg668Leu)
c.68G>T (p.Arg23Leu)
c.1970G>T (p.Arg657Leu)
c.1772G>T (p.Arg591Leu)
c.1745G>T (p.Arg582Leu)
n.2323G>T
n.2325G>T
c.2093G>T (p.Arg698Leu)
c.1862G>T (p.Arg621Leu)
n.2108G>T
ClinVar dbSNP
11g.77174824C>ACA475794568MYO7Ac.2004C>A (p.Arg668=)
c.69C>A (p.Arg23=)
c.1971C>A (p.Arg657=)
c.1773C>A (p.Arg591=)
c.1746C>A (p.Arg582=)
n.2324C>A
n.2326C>A
c.2094C>A (p.Arg698=)
c.1863C>A (p.Arg621=)
n.2109C>A
dbSNP
11g.77174824C=CA1984113777MYO7Ac.2004C= (p.Arg668=)
c.69C= (p.Arg23=)
c.1971C= (p.Arg657=)
c.1773C= (p.Arg591=)
c.1746C= (p.Arg582=)
n.2324C=
n.2326C=
c.2094C= (p.Arg698=)
c.1863C= (p.Arg621=)
n.2109C=
11g.77174824C>GCA475794569MYO7Ac.2004C>G (p.Arg668=)
c.69C>G (p.Arg23=)
c.1971C>G (p.Arg657=)
c.1773C>G (p.Arg591=)
c.1746C>G (p.Arg582=)
n.2324C>G
n.2326C>G
c.2094C>G (p.Arg698=)
c.1863C>G (p.Arg621=)
n.2109C>G
11g.77174824C>TCA475794570MYO7Ac.2004C>T (p.Arg668=)
c.69C>T (p.Arg23=)
c.1971C>T (p.Arg657=)
c.1773C>T (p.Arg591=)
c.1746C>T (p.Arg582=)
n.2324C>T
n.2326C>T
c.2094C>T (p.Arg698=)
c.1863C>T (p.Arg621=)
n.2109C>T
11g.77174825C>ACA6197662MYO7Ac.2005C>A (p.Arg669=)
c.70C>A (p.Arg24=)
c.1972C>A (p.Arg658=)
c.1774C>A (p.Arg592=)
c.1747C>A (p.Arg583=)
n.2325C>A
n.2327C>A
c.2095C>A (p.Arg699=)
c.1864C>A (p.Arg622=)
n.2110C>A
dbSNP ExAC gnomAD v2
11g.77174825C=CA1984113784MYO7Ac.2005C= (p.Arg669=)
c.70C= (p.Arg24=)
c.1972C= (p.Arg658=)
c.1774C= (p.Arg592=)
c.1747C= (p.Arg583=)
n.2325C=
n.2327C=
c.2095C= (p.Arg699=)
c.1864C= (p.Arg622=)
n.2110C=
11g.77174825C>GCA381939296MYO7Ac.2005C>G (p.Arg669Gly)
c.70C>G (p.Arg24Gly)
c.1972C>G (p.Arg658Gly)
c.1774C>G (p.Arg592Gly)
c.1747C>G (p.Arg583Gly)
n.2325C>G
n.2327C>G
c.2095C>G (p.Arg699Gly)
c.1864C>G (p.Arg622Gly)
n.2110C>G
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77174825C>TCA278640MYO7Ac.2005C>T (p.Arg669Ter)
c.70C>T (p.Arg24Ter)
c.1972C>T (p.Arg658Ter)
c.1774C>T (p.Arg592Ter)
c.1747C>T (p.Arg583Ter)
n.2325C>T
n.2327C>T
c.2095C>T (p.Arg699Ter)
c.1864C>T (p.Arg622Ter)
n.2110C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174826G>ACA6197663MYO7Ac.2006G>A (p.Arg669Gln)
c.71G>A (p.Arg24Gln)
c.1973G>A (p.Arg658Gln)
c.1775G>A (p.Arg592Gln)
c.1748G>A (p.Arg583Gln)
n.2326G>A
n.2328G>A
c.2096G>A (p.Arg699Gln)
c.1865G>A (p.Arg622Gln)
n.2111G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174826G>CCA381939297MYO7Ac.2006G>C (p.Arg669Pro)
c.71G>C (p.Arg24Pro)
c.1973G>C (p.Arg658Pro)
c.1775G>C (p.Arg592Pro)
c.1748G>C (p.Arg583Pro)
n.2326G>C
n.2328G>C
c.2096G>C (p.Arg699Pro)
c.1865G>C (p.Arg622Pro)
n.2111G>C
11g.77174826G=CA1984113794MYO7Ac.2006G= (p.Arg669=)
c.71G= (p.Arg24=)
c.1973G= (p.Arg658=)
c.1775G= (p.Arg592=)
c.1748G= (p.Arg583=)
n.2326G=
n.2328G=
c.2096G= (p.Arg699=)
c.1865G= (p.Arg622=)
n.2111G=
11g.77174826G>TCA381939298MYO7Ac.2006G>T (p.Arg669Leu)
c.71G>T (p.Arg24Leu)
c.1973G>T (p.Arg658Leu)
c.1775G>T (p.Arg592Leu)
c.1748G>T (p.Arg583Leu)
n.2326G>T
n.2328G>T
c.2096G>T (p.Arg699Leu)
c.1865G>T (p.Arg622Leu)
n.2111G>T
11g.77174827A>CCA475794573MYO7Ac.2007A>C (p.Arg669=)
c.72A>C (p.Arg24=)
c.1974A>C (p.Arg658=)
c.1776A>C (p.Arg592=)
c.1749A>C (p.Arg583=)
n.2327A>C
n.2329A>C
c.2097A>C (p.Arg699=)
c.1866A>C (p.Arg622=)
n.2112A>C
11g.77174827A>GCA475794571MYO7Ac.2007A>G (p.Arg669=)
c.72A>G (p.Arg24=)
c.1974A>G (p.Arg658=)
c.1776A>G (p.Arg592=)
c.1749A>G (p.Arg583=)
n.2327A>G
n.2329A>G
c.2097A>G (p.Arg699=)
c.1866A>G (p.Arg622=)
n.2112A>G
11g.77174827A>TCA475794572MYO7Ac.2007A>T (p.Arg669=)
c.72A>T (p.Arg24=)
c.1974A>T (p.Arg658=)
c.1776A>T (p.Arg592=)
c.1749A>T (p.Arg583=)
n.2327A>T
n.2329A>T
c.2097A>T (p.Arg699=)
c.1866A>T (p.Arg622=)
n.2112A>T
11g.77174828G>ACA381939300MYO7Ac.2008G>A (p.Ala670Thr)
c.73G>A (p.Ala25Thr)
c.1975G>A (p.Ala659Thr)
c.1777G>A (p.Ala593Thr)
c.1750G>A (p.Ala584Thr)
n.2328G>A
n.2330G>A
c.2098G>A (p.Ala700Thr)
c.1867G>A (p.Ala623Thr)
n.2113G>A
11g.77174828G>CCA381939302MYO7Ac.2008G>C (p.Ala670Pro)
c.73G>C (p.Ala25Pro)
c.1975G>C (p.Ala659Pro)
c.1777G>C (p.Ala593Pro)
c.1750G>C (p.Ala584Pro)
n.2328G>C
n.2330G>C
c.2098G>C (p.Ala700Pro)
c.1867G>C (p.Ala623Pro)
n.2113G>C
gnomAD v4
11g.77174828G>TCA381939304MYO7Ac.2008G>T (p.Ala670Ser)
c.73G>T (p.Ala25Ser)
c.1975G>T (p.Ala659Ser)
c.1777G>T (p.Ala593Ser)
c.1750G>T (p.Ala584Ser)
n.2328G>T
n.2330G>T
c.2098G>T (p.Ala700Ser)
c.1867G>T (p.Ala623Ser)
n.2113G>T
11g.77174829C>ACA381939308MYO7Ac.2009C>A (p.Ala670Asp)
c.74C>A (p.Ala25Asp)
c.1976C>A (p.Ala659Asp)
c.1778C>A (p.Ala593Asp)
c.1751C>A (p.Ala584Asp)
n.2329C>A
n.2331C>A
c.2099C>A (p.Ala700Asp)
c.1868C>A (p.Ala623Asp)
n.2114C>A
11g.77174829C>GCA381939306MYO7Ac.2009C>G (p.Ala670Gly)
c.74C>G (p.Ala25Gly)
c.1976C>G (p.Ala659Gly)
c.1778C>G (p.Ala593Gly)
c.1751C>G (p.Ala584Gly)
n.2329C>G
n.2331C>G
c.2099C>G (p.Ala700Gly)
c.1868C>G (p.Ala623Gly)
n.2114C>G
11g.77174829C>TCA381939305MYO7Ac.2009C>T (p.Ala670Val)
c.74C>T (p.Ala25Val)
c.1976C>T (p.Ala659Val)
c.1778C>T (p.Ala593Val)
c.1751C>T (p.Ala584Val)
n.2329C>T
n.2331C>T
c.2099C>T (p.Ala700Val)
c.1868C>T (p.Ala623Val)
n.2114C>T
11g.77174830T>ACA475794574MYO7Ac.2010T>A (p.Ala670=)
c.75T>A (p.Ala25=)
c.1977T>A (p.Ala659=)
c.1779T>A (p.Ala593=)
c.1752T>A (p.Ala584=)
n.2330T>A
n.2332T>A
c.2100T>A (p.Ala700=)
c.1869T>A (p.Ala623=)
n.2115T>A
11g.77174830T>CCA475794575MYO7Ac.2010T>C (p.Ala670=)
c.75T>C (p.Ala25=)
c.1977T>C (p.Ala659=)
c.1779T>C (p.Ala593=)
c.1752T>C (p.Ala584=)
n.2330T>C
n.2332T>C
c.2100T>C (p.Ala700=)
c.1869T>C (p.Ala623=)
n.2115T>C
gnomAD v4
11g.77174830T>GCA475794576MYO7Ac.2010T>G (p.Ala670=)
c.75T>G (p.Ala25=)
c.1977T>G (p.Ala659=)
c.1779T>G (p.Ala593=)
c.1752T>G (p.Ala584=)
n.2330T>G
n.2332T>G
c.2100T>G (p.Ala700=)
c.1869T>G (p.Ala623=)
n.2115T>G
11g.77174831G>ACA177376MYO7Ac.2011G>A (p.Gly671Ser)
c.76G>A (p.Gly26Ser)
c.1978G>A (p.Gly660Ser)
c.1780G>A (p.Gly594Ser)
c.1753G>A (p.Gly585Ser)
n.2331G>A
n.2333G>A
c.2101G>A (p.Gly701Ser)
c.1870G>A (p.Gly624Ser)
n.2116G>A
ClinVar dbSNP
11g.77174831G>CCA381939310MYO7Ac.2011G>C (p.Gly671Arg)
c.76G>C (p.Gly26Arg)
c.1978G>C (p.Gly660Arg)
c.1780G>C (p.Gly594Arg)
c.1753G>C (p.Gly585Arg)
n.2331G>C
n.2333G>C
c.2101G>C (p.Gly701Arg)
c.1870G>C (p.Gly624Arg)
n.2116G>C
11g.77174831G=CA1984113805MYO7Ac.2011G= (p.Gly671=)
c.76G= (p.Gly26=)
c.1978G= (p.Gly660=)
c.1780G= (p.Gly594=)
c.1753G= (p.Gly585=)
n.2331G=
n.2333G=
c.2101G= (p.Gly701=)
c.1870G= (p.Gly624=)
n.2116G=
11g.77174831G>TCA381939312MYO7Ac.2011G>T (p.Gly671Cys)
c.76G>T (p.Gly26Cys)
c.1978G>T (p.Gly660Cys)
c.1780G>T (p.Gly594Cys)
c.1753G>T (p.Gly585Cys)
n.2331G>T
n.2333G>T
c.2101G>T (p.Gly701Cys)
c.1870G>T (p.Gly624Cys)
n.2116G>T
11g.77174832G>ACA381939313MYO7Ac.2012G>A (p.Gly671Asp)
c.77G>A (p.Gly26Asp)
c.1979G>A (p.Gly660Asp)
c.1781G>A (p.Gly594Asp)
c.1754G>A (p.Gly585Asp)
n.2332G>A
n.2334G>A
c.2102G>A (p.Gly701Asp)
c.1871G>A (p.Gly624Asp)
n.2117G>A
gnomAD v4
11g.77174832G>CCA381939314MYO7Ac.2012G>C (p.Gly671Ala)
c.77G>C (p.Gly26Ala)
c.1979G>C (p.Gly660Ala)
c.1781G>C (p.Gly594Ala)
c.1754G>C (p.Gly585Ala)
n.2332G>C
n.2334G>C
c.2102G>C (p.Gly701Ala)
c.1871G>C (p.Gly624Ala)
n.2117G>C
dbSNP
11g.77174832G=CA1984113808MYO7Ac.2012G= (p.Gly671=)
c.77G= (p.Gly26=)
c.1979G= (p.Gly660=)
c.1781G= (p.Gly594=)
c.1754G= (p.Gly585=)
n.2332G=
n.2334G=
c.2102G= (p.Gly701=)
c.1871G= (p.Gly624=)
n.2117G=
11g.77174832G>TCA381939315MYO7Ac.2012G>T (p.Gly671Val)
c.77G>T (p.Gly26Val)
c.1979G>T (p.Gly660Val)
c.1781G>T (p.Gly594Val)
c.1754G>T (p.Gly585Val)
n.2332G>T
n.2334G>T
c.2102G>T (p.Gly701Val)
c.1871G>T (p.Gly624Val)
n.2117G>T
dbSNP gnomAD v2 gnomAD v4
11g.77174833C>ACA475794577MYO7Ac.2013C>A (p.Gly671=)
c.78C>A (p.Gly26=)
c.1980C>A (p.Gly660=)
c.1782C>A (p.Gly594=)
c.1755C>A (p.Gly585=)
n.2333C>A
n.2335C>A
c.2103C>A (p.Gly701=)
c.1872C>A (p.Gly624=)
n.2118C>A
11g.77174833C>GCA475794578MYO7Ac.2013C>G (p.Gly671=)
c.78C>G (p.Gly26=)
c.1980C>G (p.Gly660=)
c.1782C>G (p.Gly594=)
c.1755C>G (p.Gly585=)
n.2333C>G
n.2335C>G
c.2103C>G (p.Gly701=)
c.1872C>G (p.Gly624=)
n.2118C>G
11g.77174833C>TCA475794579MYO7Ac.2013C>T (p.Gly671=)
c.78C>T (p.Gly26=)
c.1980C>T (p.Gly660=)
c.1782C>T (p.Gly594=)
c.1755C>T (p.Gly585=)
n.2333C>T
n.2335C>T
c.2103C>T (p.Gly701=)
c.1872C>T (p.Gly624=)
n.2118C>T
11g.77174834T>ACA381939317MYO7Ac.2014T>A (p.Tyr672Asn)
c.79T>A (p.Tyr27Asn)
c.1981T>A (p.Tyr661Asn)
c.1783T>A (p.Tyr595Asn)
c.1756T>A (p.Tyr586Asn)
n.2334T>A
n.2336T>A
c.2104T>A (p.Tyr702Asn)
c.1873T>A (p.Tyr625Asn)
n.2119T>A
11g.77174834T>CCA6197664MYO7Ac.2014T>C (p.Tyr672His)
c.79T>C (p.Tyr27His)
c.1981T>C (p.Tyr661His)
c.1783T>C (p.Tyr595His)
c.1756T>C (p.Tyr586His)
n.2334T>C
n.2336T>C
c.2104T>C (p.Tyr702His)
c.1873T>C (p.Tyr625His)
n.2119T>C
dbSNP ExAC gnomAD v2 gnomAD v4
11g.77174834T>GCA381939319MYO7Ac.2014T>G (p.Tyr672Asp)
c.79T>G (p.Tyr27Asp)
c.1981T>G (p.Tyr661Asp)
c.1783T>G (p.Tyr595Asp)
c.1756T>G (p.Tyr586Asp)
n.2334T>G
n.2336T>G
c.2104T>G (p.Tyr702Asp)
c.1873T>G (p.Tyr625Asp)
n.2119T>G
11g.77174834T=CA1984113815MYO7Ac.2014T= (p.Tyr672=)
c.79T= (p.Tyr27=)
c.1981T= (p.Tyr661=)
c.1783T= (p.Tyr595=)
c.1756T= (p.Tyr586=)
n.2334T=
n.2336T=
c.2104T= (p.Tyr702=)
c.1873T= (p.Tyr625=)
n.2119T=
11g.77174835A=CA1984113819MYO7Ac.2015A= (p.Tyr672=)
c.80A= (p.Tyr27=)
c.1982A= (p.Tyr661=)
c.1784A= (p.Tyr595=)
c.1757A= (p.Tyr586=)
n.2335A=
n.2337A=
c.2105A= (p.Tyr702=)
c.1874A= (p.Tyr625=)
n.2120A=
11g.77174835A>CCA381939321MYO7Ac.2015A>C (p.Tyr672Ser)
c.80A>C (p.Tyr27Ser)
c.1982A>C (p.Tyr661Ser)
c.1784A>C (p.Tyr595Ser)
c.1757A>C (p.Tyr586Ser)
n.2335A>C
n.2337A>C
c.2105A>C (p.Tyr702Ser)
c.1874A>C (p.Tyr625Ser)
n.2120A>C
dbSNP
11g.77174835A>GCA381939323MYO7Ac.2015A>G (p.Tyr672Cys)
c.80A>G (p.Tyr27Cys)
c.1982A>G (p.Tyr661Cys)
c.1784A>G (p.Tyr595Cys)
c.1757A>G (p.Tyr586Cys)
n.2335A>G
n.2337A>G
c.2105A>G (p.Tyr702Cys)
c.1874A>G (p.Tyr625Cys)
n.2120A>G
11g.77174835A>TCA381939324MYO7Ac.2015A>T (p.Tyr672Phe)
c.80A>T (p.Tyr27Phe)
c.1982A>T (p.Tyr661Phe)
c.1784A>T (p.Tyr595Phe)
c.1757A>T (p.Tyr586Phe)
n.2335A>T
n.2337A>T
c.2105A>T (p.Tyr702Phe)
c.1874A>T (p.Tyr625Phe)
n.2120A>T
11g.77174835_77174836delinsACCA1984113820MYO7Ac.2015_2016delinsAC (p.Tyr672=)
c.80_81delinsAC (p.Tyr27=)
c.1982_1983delinsAC (p.Tyr661=)
c.1784_1785delinsAC (p.Tyr595=)
c.1757_1758delinsAC (p.Tyr586=)
n.2335_2336delinsAC
n.2337_2338delinsAC
c.2105_2106delinsAC (p.Tyr702=)
c.1874_1875delinsAC (p.Tyr625=)
n.2120_2121delinsAC
11g.77174836C>ACA381939325MYO7Ac.2016C>A (p.Tyr672Ter)
c.81C>A (p.Tyr27Ter)
c.1983C>A (p.Tyr661Ter)
c.1785C>A (p.Tyr595Ter)
c.1758C>A (p.Tyr586Ter)
n.2336C>A
n.2338C>A
c.2106C>A (p.Tyr702Ter)
c.1875C>A (p.Tyr625Ter)
n.2121C>A
11g.77174836C=CA1984113828MYO7Ac.2016C= (p.Tyr672=)
c.81C= (p.Tyr27=)
c.1983C= (p.Tyr661=)
c.1785C= (p.Tyr595=)
c.1758C= (p.Tyr586=)
n.2336C=
n.2338C=
c.2106C= (p.Tyr702=)
c.1875C= (p.Tyr625=)
n.2121C=
11g.77174836C>GCA381939327MYO7Ac.2016C>G (p.Tyr672Ter)
c.81C>G (p.Tyr27Ter)
c.1983C>G (p.Tyr661Ter)
c.1785C>G (p.Tyr595Ter)
c.1758C>G (p.Tyr586Ter)
n.2336C>G
n.2338C>G
c.2106C>G (p.Tyr702Ter)
c.1875C>G (p.Tyr625Ter)
n.2121C>G
11g.77174836C>TCA475794580MYO7Ac.2016C>T (p.Tyr672=)
c.81C>T (p.Tyr27=)
c.1983C>T (p.Tyr661=)
c.1785C>T (p.Tyr595=)
c.1758C>T (p.Tyr586=)
n.2336C>T
n.2338C>T
c.2106C>T (p.Tyr702=)
c.1875C>T (p.Tyr625=)
n.2121C>T
dbSNP gnomAD v4
11g.77174839delCA680376819MYO7Ac.2019del (p.Ile674SerfsTer6)
c.84del (p.Ile29SerfsTer6)
c.1986del (p.Ile663SerfsTer6)
c.1788del (p.Ile597SerfsTer6)
c.1761del (p.Ile588SerfsTer6)
n.2339del
n.2341del
c.2109del (p.Ile704SerfsTer6)
c.1878del (p.Ile627SerfsTer6)
n.2124del
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77174837C>ACA381939329MYO7Ac.2017C>A (p.Pro673Thr)
c.82C>A (p.Pro28Thr)
c.1984C>A (p.Pro662Thr)
c.1786C>A (p.Pro596Thr)
c.1759C>A (p.Pro587Thr)
n.2337C>A
n.2339C>A
c.2107C>A (p.Pro703Thr)
c.1876C>A (p.Pro626Thr)
n.2122C>A
11g.77174837C>GCA381939330MYO7Ac.2017C>G (p.Pro673Ala)
c.82C>G (p.Pro28Ala)
c.1984C>G (p.Pro662Ala)
c.1786C>G (p.Pro596Ala)
c.1759C>G (p.Pro587Ala)
n.2337C>G
n.2339C>G
c.2107C>G (p.Pro703Ala)
c.1876C>G (p.Pro626Ala)
n.2122C>G
11g.77174837C>TCA381939331MYO7Ac.2017C>T (p.Pro673Ser)
c.82C>T (p.Pro28Ser)
c.1984C>T (p.Pro662Ser)
c.1786C>T (p.Pro596Ser)
c.1759C>T (p.Pro587Ser)
n.2337C>T
n.2339C>T
c.2107C>T (p.Pro703Ser)
c.1876C>T (p.Pro626Ser)
n.2122C>T
gnomAD v4
11g.77174838C>ACA6197665MYO7Ac.2018C>A (p.Pro673His)
c.83C>A (p.Pro28His)
c.1985C>A (p.Pro662His)
c.1787C>A (p.Pro596His)
c.1760C>A (p.Pro587His)
n.2338C>A
n.2340C>A
c.2108C>A (p.Pro703His)
c.1877C>A (p.Pro626His)
n.2123C>A
dbSNP ExAC gnomAD v2 gnomAD v4
11g.77174838C=CA1984113845MYO7Ac.2018C= (p.Pro673=)
c.83C= (p.Pro28=)
c.1985C= (p.Pro662=)
c.1787C= (p.Pro596=)
c.1760C= (p.Pro587=)
n.2338C=
n.2340C=
c.2108C= (p.Pro703=)
c.1877C= (p.Pro626=)
n.2123C=
11g.77174838C>GCA381939333MYO7Ac.2018C>G (p.Pro673Arg)
c.83C>G (p.Pro28Arg)
c.1985C>G (p.Pro662Arg)
c.1787C>G (p.Pro596Arg)
c.1760C>G (p.Pro587Arg)
n.2338C>G
n.2340C>G
c.2108C>G (p.Pro703Arg)
c.1877C>G (p.Pro626Arg)
n.2123C>G
11g.77174838C>TCA381939335MYO7Ac.2018C>T (p.Pro673Leu)
c.83C>T (p.Pro28Leu)
c.1985C>T (p.Pro662Leu)
c.1787C>T (p.Pro596Leu)
c.1760C>T (p.Pro587Leu)
n.2338C>T
n.2340C>T
c.2108C>T (p.Pro703Leu)
c.1877C>T (p.Pro626Leu)
n.2123C>T
gnomAD v4
11g.77174839C>ACA475794581MYO7Ac.2019C>A (p.Pro673=)
c.84C>A (p.Pro28=)
c.1986C>A (p.Pro662=)
c.1788C>A (p.Pro596=)
c.1761C>A (p.Pro587=)
n.2339C>A
n.2341C>A
c.2109C>A (p.Pro703=)
c.1878C>A (p.Pro626=)
n.2124C>A
gnomAD v4
11g.77174839C=CA1984113847MYO7Ac.2019C= (p.Pro673=)
c.84C= (p.Pro28=)
c.1986C= (p.Pro662=)
c.1788C= (p.Pro596=)
c.1761C= (p.Pro587=)
n.2339C=
n.2341C=
c.2109C= (p.Pro703=)
c.1878C= (p.Pro626=)
n.2124C=
11g.77174839C>GCA475794582MYO7Ac.2019C>G (p.Pro673=)
c.84C>G (p.Pro28=)
c.1986C>G (p.Pro662=)
c.1788C>G (p.Pro596=)
c.1761C>G (p.Pro587=)
n.2339C>G
n.2341C>G
c.2109C>G (p.Pro703=)
c.1878C>G (p.Pro626=)
n.2124C>G
gnomAD v4
11g.77174839C>TCA6197666MYO7Ac.2019C>T (p.Pro673=)
c.84C>T (p.Pro28=)
c.1986C>T (p.Pro662=)
c.1788C>T (p.Pro596=)
c.1761C>T (p.Pro587=)
n.2339C>T
n.2341C>T
c.2109C>T (p.Pro703=)
c.1878C>T (p.Pro626=)
n.2124C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77174840A=CA1984113849MYO7Ac.2020A= (p.Ile674=)
c.85A= (p.Ile29=)
c.1987A= (p.Ile663=)
c.1789A= (p.Ile597=)
c.1762A= (p.Ile588=)
n.2340A=
n.2342A=
c.2110A= (p.Ile704=)
c.1879A= (p.Ile627=)
n.2125A=
11g.77174840A>CCA381939337MYO7Ac.2020A>C (p.Ile674Leu)
c.85A>C (p.Ile29Leu)
c.1987A>C (p.Ile663Leu)
c.1789A>C (p.Ile597Leu)
c.1762A>C (p.Ile588Leu)
n.2340A>C
n.2342A>C
c.2110A>C (p.Ile704Leu)
c.1879A>C (p.Ile627Leu)
n.2125A>C
ClinVar
11g.77174840A>GCA381939339MYO7Ac.2020A>G (p.Ile674Val)
c.85A>G (p.Ile29Val)
c.1987A>G (p.Ile663Val)
c.1789A>G (p.Ile597Val)
c.1762A>G (p.Ile588Val)
n.2340A>G
n.2342A>G
c.2110A>G (p.Ile704Val)
c.1879A>G (p.Ile627Val)
n.2125A>G
11g.77174840A>TCA6197667MYO7Ac.2020A>T (p.Ile674Phe)
c.85A>T (p.Ile29Phe)
c.1987A>T (p.Ile663Phe)
c.1789A>T (p.Ile597Phe)
c.1762A>T (p.Ile588Phe)
n.2340A>T
n.2342A>T
c.2110A>T (p.Ile704Phe)
c.1879A>T (p.Ile627Phe)
n.2125A>T
dbSNP ExAC gnomAD v2
11g.77174841T>ACA381939340MYO7Ac.2021T>A (p.Ile674Asn)
c.86T>A (p.Ile29Asn)
c.1988T>A (p.Ile663Asn)
c.1790T>A (p.Ile597Asn)
c.1763T>A (p.Ile588Asn)
n.2341T>A
n.2343T>A
c.2111T>A (p.Ile704Asn)
c.1880T>A (p.Ile627Asn)
n.2126T>A
11g.77174841T>CCA381939344MYO7Ac.2021T>C (p.Ile674Thr)
c.86T>C (p.Ile29Thr)
c.1988T>C (p.Ile663Thr)
c.1790T>C (p.Ile597Thr)
c.1763T>C (p.Ile588Thr)
n.2341T>C
n.2343T>C
c.2111T>C (p.Ile704Thr)
c.1880T>C (p.Ile627Thr)
n.2126T>C
11g.77174841T>GCA381939342MYO7Ac.2021T>G (p.Ile674Ser)
c.86T>G (p.Ile29Ser)
c.1988T>G (p.Ile663Ser)
c.1790T>G (p.Ile597Ser)
c.1763T>G (p.Ile588Ser)
n.2341T>G
n.2343T>G
c.2111T>G (p.Ile704Ser)
c.1880T>G (p.Ile627Ser)
n.2126T>G
11g.77174842C>ACA475794583MYO7Ac.2022C>A (p.Ile674=)
c.87C>A (p.Ile29=)
c.1989C>A (p.Ile663=)
c.1791C>A (p.Ile597=)
c.1764C>A (p.Ile588=)
n.2342C>A
n.2344C>A
c.2112C>A (p.Ile704=)
c.1881C>A (p.Ile627=)
n.2127C>A
11g.77174842C=CA1984113853MYO7Ac.2022C= (p.Ile674=)
c.87C= (p.Ile29=)
c.1989C= (p.Ile663=)
c.1791C= (p.Ile597=)
c.1764C= (p.Ile588=)
n.2342C=
n.2344C=
c.2112C= (p.Ile704=)
c.1881C= (p.Ile627=)
n.2127C=
11g.77174842C>GCA381939345MYO7Ac.2022C>G (p.Ile674Met)
c.87C>G (p.Ile29Met)
c.1989C>G (p.Ile663Met)
c.1791C>G (p.Ile597Met)
c.1764C>G (p.Ile588Met)
n.2342C>G
n.2344C>G
c.2112C>G (p.Ile704Met)
c.1881C>G (p.Ile627Met)
n.2127C>G
11g.77174842C>TCA475794584MYO7Ac.2022C>T (p.Ile674=)
c.87C>T (p.Ile29=)
c.1989C>T (p.Ile663=)
c.1791C>T (p.Ile597=)
c.1764C>T (p.Ile588=)
n.2342C>T
n.2344C>T
c.2112C>T (p.Ile704=)
c.1881C>T (p.Ile627=)
n.2127C>T
ClinVar dbSNP
11g.77174843C>ACA381939346MYO7Ac.2023C>A (p.Arg675Ser)
c.88C>A (p.Arg30Ser)
c.1990C>A (p.Arg664Ser)
c.1792C>A (p.Arg598Ser)
c.1765C>A (p.Arg589Ser)
n.2343C>A
n.2345C>A
c.2113C>A (p.Arg705Ser)
c.1882C>A (p.Arg628Ser)
n.2128C>A
11g.77174843C=CA1984113860MYO7Ac.2023C= (p.Arg675=)
c.88C= (p.Arg30=)
c.1990C= (p.Arg664=)
c.1792C= (p.Arg598=)
c.1765C= (p.Arg589=)
n.2343C=
n.2345C=
c.2113C= (p.Arg705=)
c.1882C= (p.Arg628=)
n.2128C=
11g.77174843C>GCA381939348MYO7Ac.2023C>G (p.Arg675Gly)
c.88C>G (p.Arg30Gly)
c.1990C>G (p.Arg664Gly)
c.1792C>G (p.Arg598Gly)
c.1765C>G (p.Arg589Gly)
n.2343C>G
n.2345C>G
c.2113C>G (p.Arg705Gly)
c.1882C>G (p.Arg628Gly)
n.2128C>G
11g.77174843C>TCA6197668MYO7Ac.2023C>T (p.Arg675Cys)
c.88C>T (p.Arg30Cys)
c.1990C>T (p.Arg664Cys)
c.1792C>T (p.Arg598Cys)
c.1765C>T (p.Arg589Cys)
n.2343C>T
n.2345C>T
c.2113C>T (p.Arg705Cys)
c.1882C>T (p.Arg628Cys)
n.2128C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174844G>ACA6197669MYO7Ac.2024G>A (p.Arg675His)
c.89G>A (p.Arg30His)
c.1991G>A (p.Arg664His)
c.1793G>A (p.Arg598His)
c.1766G>A (p.Arg589His)
n.2344G>A
n.2346G>A
c.2114G>A (p.Arg705His)
c.1883G>A (p.Arg628His)
n.2129G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77174844G>CCA381939351MYO7Ac.2024G>C (p.Arg675Pro)
c.89G>C (p.Arg30Pro)
c.1991G>C (p.Arg664Pro)
c.1793G>C (p.Arg598Pro)
c.1766G>C (p.Arg589Pro)
n.2344G>C
n.2346G>C
c.2114G>C (p.Arg705Pro)
c.1883G>C (p.Arg628Pro)
n.2129G>C
11g.77174844G=CA1984113864MYO7Ac.2024G= (p.Arg675=)
c.89G= (p.Arg30=)
c.1991G= (p.Arg664=)
c.1793G= (p.Arg598=)
c.1766G= (p.Arg589=)
n.2344G=
n.2346G=
c.2114G= (p.Arg705=)
c.1883G= (p.Arg628=)
n.2129G=
11g.77174844G>TCA381939352MYO7Ac.2024G>T (p.Arg675Leu)
c.89G>T (p.Arg30Leu)
c.1991G>T (p.Arg664Leu)
c.1793G>T (p.Arg598Leu)
c.1766G>T (p.Arg589Leu)
n.2344G>T
n.2346G>T
c.2114G>T (p.Arg705Leu)
c.1883G>T (p.Arg628Leu)
n.2129G>T
11g.77174845C>ACA475794585MYO7Ac.2025C>A (p.Arg675=)
c.90C>A (p.Arg30=)
c.1992C>A (p.Arg664=)
c.1794C>A (p.Arg598=)
c.1767C>A (p.Arg589=)
n.2345C>A
n.2347C>A
c.2115C>A (p.Arg705=)
c.1884C>A (p.Arg628=)
n.2130C>A
11g.77174845C=CA1984113868MYO7Ac.2025C= (p.Arg675=)
c.90C= (p.Arg30=)
c.1992C= (p.Arg664=)
c.1794C= (p.Arg598=)
c.1767C= (p.Arg589=)
n.2345C=
n.2347C=
c.2115C= (p.Arg705=)
c.1884C= (p.Arg628=)
n.2130C=
11g.77174845C>GCA475794586MYO7Ac.2025C>G (p.Arg675=)
c.90C>G (p.Arg30=)
c.1992C>G (p.Arg664=)
c.1794C>G (p.Arg598=)
c.1767C>G (p.Arg589=)
n.2345C>G
n.2347C>G
c.2115C>G (p.Arg705=)
c.1884C>G (p.Arg628=)
n.2130C>G
11g.77174845C>TCA240821MYO7Ac.2025C>T (p.Arg675=)
c.90C>T (p.Arg30=)
c.1992C>T (p.Arg664=)
c.1794C>T (p.Arg598=)
c.1767C>T (p.Arg589=)
n.2345C>T
n.2347C>T
c.2115C>T (p.Arg705=)
c.1884C>T (p.Arg628=)
n.2130C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77174846T>ACA381939355MYO7Ac.2026T>A (p.Tyr676Asn)
c.91T>A (p.Tyr31Asn)
c.1993T>A (p.Tyr665Asn)
c.1795T>A (p.Tyr599Asn)
c.1768T>A (p.Tyr590Asn)
n.2346T>A
n.2348T>A
c.2116T>A (p.Tyr706Asn)
c.1885T>A (p.Tyr629Asn)
n.2131T>A
dbSNP
11g.77174846T>CCA6197670MYO7Ac.2026T>C (p.Tyr676His)
c.91T>C (p.Tyr31His)
c.1993T>C (p.Tyr665His)
c.1795T>C (p.Tyr599His)
c.1768T>C (p.Tyr590His)
n.2346T>C
n.2348T>C
c.2116T>C (p.Tyr706His)
c.1885T>C (p.Tyr629His)
n.2131T>C
dbSNP ExAC gnomAD v2 gnomAD v4
11g.77174846T>GCA381939357MYO7Ac.2026T>G (p.Tyr676Asp)
c.91T>G (p.Tyr31Asp)
c.1993T>G (p.Tyr665Asp)
c.1795T>G (p.Tyr599Asp)
c.1768T>G (p.Tyr590Asp)
n.2346T>G
n.2348T>G
c.2116T>G (p.Tyr706Asp)
c.1885T>G (p.Tyr629Asp)
n.2131T>G
11g.77174846T=CA1984113872MYO7Ac.2026T= (p.Tyr676=)
c.91T= (p.Tyr31=)
c.1993T= (p.Tyr665=)
c.1795T= (p.Tyr599=)
c.1768T= (p.Tyr590=)
n.2346T=
n.2348T=
c.2116T= (p.Tyr706=)
c.1885T= (p.Tyr629=)
n.2131T=
11g.77174847A>CCA381939362MYO7Ac.2027A>C (p.Tyr676Ser)
c.92A>C (p.Tyr31Ser)
c.1994A>C (p.Tyr665Ser)
c.1796A>C (p.Tyr599Ser)
c.1769A>C (p.Tyr590Ser)
n.2347A>C
n.2349A>C
c.2117A>C (p.Tyr706Ser)
c.1886A>C (p.Tyr629Ser)
n.2132A>C
11g.77174847A>GCA381939359MYO7Ac.2027A>G (p.Tyr676Cys)
c.92A>G (p.Tyr31Cys)
c.1994A>G (p.Tyr665Cys)
c.1796A>G (p.Tyr599Cys)
c.1769A>G (p.Tyr590Cys)
n.2347A>G
n.2349A>G
c.2117A>G (p.Tyr706Cys)
c.1886A>G (p.Tyr629Cys)
n.2132A>G
gnomAD v4
11g.77174847A>TCA381939360MYO7Ac.2027A>T (p.Tyr676Phe)
c.92A>T (p.Tyr31Phe)
c.1994A>T (p.Tyr665Phe)
c.1796A>T (p.Tyr599Phe)
c.1769A>T (p.Tyr590Phe)
n.2347A>T
n.2349A>T
c.2117A>T (p.Tyr706Phe)
c.1886A>T (p.Tyr629Phe)
n.2132A>T
11g.77174848C>ACA381939363MYO7Ac.2028C>A (p.Tyr676Ter)
c.93C>A (p.Tyr31Ter)
c.1995C>A (p.Tyr665Ter)
c.1797C>A (p.Tyr599Ter)
c.1770C>A (p.Tyr590Ter)
n.2348C>A
n.2350C>A
c.2118C>A (p.Tyr706Ter)
c.1887C>A (p.Tyr629Ter)
n.2133C>A
11g.77174848C>GCA381939365MYO7Ac.2028C>G (p.Tyr676Ter)
c.93C>G (p.Tyr31Ter)
c.1995C>G (p.Tyr665Ter)
c.1797C>G (p.Tyr599Ter)
c.1770C>G (p.Tyr590Ter)
n.2348C>G
n.2350C>G
c.2118C>G (p.Tyr706Ter)
c.1887C>G (p.Tyr629Ter)
n.2133C>G
11g.77174848C>TCA475794587MYO7Ac.2028C>T (p.Tyr676=)
c.93C>T (p.Tyr31=)
c.1995C>T (p.Tyr665=)
c.1797C>T (p.Tyr599=)
c.1770C>T (p.Tyr590=)
n.2348C>T
n.2350C>T
c.2118C>T (p.Tyr706=)
c.1887C>T (p.Tyr629=)
n.2133C>T
11g.77174849A>CCA381939366MYO7Ac.2029A>C (p.Ser677Arg)
c.94A>C (p.Ser32Arg)
c.1996A>C (p.Ser666Arg)
c.1798A>C (p.Ser600Arg)
c.1771A>C (p.Ser591Arg)
n.2349A>C
n.2351A>C
c.2119A>C (p.Ser707Arg)
c.1888A>C (p.Ser630Arg)
n.2134A>C
11g.77174849A>GCA381939368MYO7Ac.2029A>G (p.Ser677Gly)
c.94A>G (p.Ser32Gly)
c.1996A>G (p.Ser666Gly)
c.1798A>G (p.Ser600Gly)
c.1771A>G (p.Ser591Gly)
n.2349A>G
n.2351A>G
c.2119A>G (p.Ser707Gly)
c.1888A>G (p.Ser630Gly)
n.2134A>G
11g.77174849A>TCA381939370MYO7Ac.2029A>T (p.Ser677Cys)
c.94A>T (p.Ser32Cys)
c.1996A>T (p.Ser666Cys)
c.1798A>T (p.Ser600Cys)
c.1771A>T (p.Ser591Cys)
n.2349A>T
n.2351A>T
c.2119A>T (p.Ser707Cys)
c.1888A>T (p.Ser630Cys)
n.2134A>T
11g.77174850G>ACA381939372MYO7Ac.2030G>A (p.Ser677Asn)
c.95G>A (p.Ser32Asn)
c.1997G>A (p.Ser666Asn)
c.1799G>A (p.Ser600Asn)
c.1772G>A (p.Ser591Asn)
n.2350G>A
n.2352G>A
c.2120G>A (p.Ser707Asn)
c.1889G>A (p.Ser630Asn)
n.2135G>A
11g.77174850G>CCA381939373MYO7Ac.2030G>C (p.Ser677Thr)
c.95G>C (p.Ser32Thr)
c.1997G>C (p.Ser666Thr)
c.1799G>C (p.Ser600Thr)
c.1772G>C (p.Ser591Thr)
n.2350G>C
n.2352G>C
c.2120G>C (p.Ser707Thr)
c.1889G>C (p.Ser630Thr)
n.2135G>C
11g.77174850G>TCA381939374MYO7Ac.2030G>T (p.Ser677Ile)
c.95G>T (p.Ser32Ile)
c.1997G>T (p.Ser666Ile)
c.1799G>T (p.Ser600Ile)
c.1772G>T (p.Ser591Ile)
n.2350G>T
n.2352G>T
c.2120G>T (p.Ser707Ile)
c.1889G>T (p.Ser630Ile)
n.2135G>T
11g.77174851C>ACA381939375MYO7Ac.2031C>A (p.Ser677Arg)
c.96C>A (p.Ser32Arg)
c.1998C>A (p.Ser666Arg)
c.1800C>A (p.Ser600Arg)
c.1773C>A (p.Ser591Arg)
n.2351C>A
n.2353C>A
c.2121C>A (p.Ser707Arg)
c.1890C>A (p.Ser630Arg)
n.2136C>A
11g.77174851C=CA1984113876MYO7Ac.2031C= (p.Ser677=)
c.96C= (p.Ser32=)
c.1998C= (p.Ser666=)
c.1800C= (p.Ser600=)
c.1773C= (p.Ser591=)
n.2351C=
n.2353C=
c.2121C= (p.Ser707=)
c.1890C= (p.Ser630=)
n.2136C=
11g.77174851C>GCA381939376MYO7Ac.2031C>G (p.Ser677Arg)
c.96C>G (p.Ser32Arg)
c.1998C>G (p.Ser666Arg)
c.1800C>G (p.Ser600Arg)
c.1773C>G (p.Ser591Arg)
n.2351C>G
n.2353C>G
c.2121C>G (p.Ser707Arg)
c.1890C>G (p.Ser630Arg)
n.2136C>G
11g.77174851C>TCA475794588MYO7Ac.2031C>T (p.Ser677=)
c.96C>T (p.Ser32=)
c.1998C>T (p.Ser666=)
c.1800C>T (p.Ser600=)
c.1773C>T (p.Ser591=)
n.2351C>T
n.2353C>T
c.2121C>T (p.Ser707=)
c.1890C>T (p.Ser630=)
n.2136C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77174852T>ACA381939378MYO7Ac.2032T>A (p.Phe678Ile)
c.97T>A (p.Phe33Ile)
c.1999T>A (p.Phe667Ile)
c.1801T>A (p.Phe601Ile)
c.1774T>A (p.Phe592Ile)
n.2352T>A
n.2354T>A
c.2122T>A (p.Phe708Ile)
c.1891T>A (p.Phe631Ile)
n.2137T>A
11g.77174852T>CCA381939379MYO7Ac.2032T>C (p.Phe678Leu)
c.97T>C (p.Phe33Leu)
c.1999T>C (p.Phe667Leu)
c.1801T>C (p.Phe601Leu)
c.1774T>C (p.Phe592Leu)
n.2352T>C
n.2354T>C
c.2122T>C (p.Phe708Leu)
c.1891T>C (p.Phe631Leu)
n.2137T>C
11g.77174852T>GCA381939377MYO7Ac.2032T>G (p.Phe678Val)
c.97T>G (p.Phe33Val)
c.1999T>G (p.Phe667Val)
c.1801T>G (p.Phe601Val)
c.1774T>G (p.Phe592Val)
n.2352T>G
n.2354T>G
c.2122T>G (p.Phe708Val)
c.1891T>G (p.Phe631Val)
n.2137T>G
11g.77174853T>ACA381939381MYO7Ac.2033T>A (p.Phe678Tyr)
c.98T>A (p.Phe33Tyr)
c.2000T>A (p.Phe667Tyr)
c.1802T>A (p.Phe601Tyr)
c.1775T>A (p.Phe592Tyr)
n.2353T>A
n.2355T>A
c.2123T>A (p.Phe708Tyr)
c.1892T>A (p.Phe631Tyr)
n.2138T>A
11g.77174853T>CCA381939382MYO7Ac.2033T>C (p.Phe678Ser)
c.98T>C (p.Phe33Ser)
c.2000T>C (p.Phe667Ser)
c.1802T>C (p.Phe601Ser)
c.1775T>C (p.Phe592Ser)
n.2353T>C
n.2355T>C
c.2123T>C (p.Phe708Ser)
c.1892T>C (p.Phe631Ser)
n.2138T>C
11g.77174853T>GCA381939384MYO7Ac.2033T>G (p.Phe678Cys)
c.98T>G (p.Phe33Cys)
c.2000T>G (p.Phe667Cys)
c.1802T>G (p.Phe601Cys)
c.1775T>G (p.Phe592Cys)
n.2353T>G
n.2355T>G
c.2123T>G (p.Phe708Cys)
c.1892T>G (p.Phe631Cys)
n.2138T>G
11g.77174854C>ACA381939386MYO7Ac.2034C>A (p.Phe678Leu)
c.99C>A (p.Phe33Leu)
c.2001C>A (p.Phe667Leu)
c.1803C>A (p.Phe601Leu)
c.1776C>A (p.Phe592Leu)
n.2354C>A
n.2356C>A
c.2124C>A (p.Phe708Leu)
c.1893C>A (p.Phe631Leu)
n.2139C>A
11g.77174854C=CA1984113882MYO7Ac.2034C= (p.Phe678=)
c.99C= (p.Phe33=)
c.2001C= (p.Phe667=)
c.1803C= (p.Phe601=)
c.1776C= (p.Phe592=)
n.2354C=
n.2356C=
c.2124C= (p.Phe708=)
c.1893C= (p.Phe631=)
n.2139C=
11g.77174854C>GCA381939387MYO7Ac.2034C>G (p.Phe678Leu)
c.99C>G (p.Phe33Leu)
c.2001C>G (p.Phe667Leu)
c.1803C>G (p.Phe601Leu)
c.1776C>G (p.Phe592Leu)
n.2354C>G
n.2356C>G
c.2124C>G (p.Phe708Leu)
c.1893C>G (p.Phe631Leu)
n.2139C>G
ClinVar gnomAD v4
11g.77174854C>TCA6197671MYO7Ac.2034C>T (p.Phe678=)
c.99C>T (p.Phe33=)
c.2001C>T (p.Phe667=)
c.1803C>T (p.Phe601=)
c.1776C>T (p.Phe592=)
n.2354C>T
n.2356C>T
c.2124C>T (p.Phe708=)
c.1893C>T (p.Phe631=)
n.2139C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174855G>ACA132233MYO7Ac.2035G>A (p.Val679Ile)
c.100G>A (p.Val34Ile)
c.2002G>A (p.Val668Ile)
c.1804G>A (p.Val602Ile)
c.1777G>A (p.Val593Ile)
n.2355G>A
n.2357G>A
c.2125G>A (p.Val709Ile)
c.1894G>A (p.Val632Ile)
n.2140G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174855G>CCA381939388MYO7Ac.2035G>C (p.Val679Leu)
c.100G>C (p.Val34Leu)
c.2002G>C (p.Val668Leu)
c.1804G>C (p.Val602Leu)
c.1777G>C (p.Val593Leu)
n.2355G>C
n.2357G>C
c.2125G>C (p.Val709Leu)
c.1894G>C (p.Val632Leu)
n.2140G>C
11g.77174855G=CA1984113898MYO7Ac.2035G= (p.Val679=)
c.100G= (p.Val34=)
c.2002G= (p.Val668=)
c.1804G= (p.Val602=)
c.1777G= (p.Val593=)
n.2355G=
n.2357G=
c.2125G= (p.Val709=)
c.1894G= (p.Val632=)
n.2140G=
11g.77174855G>TCA381939390MYO7Ac.2035G>T (p.Val679Leu)
c.100G>T (p.Val34Leu)
c.2002G>T (p.Val668Leu)
c.1804G>T (p.Val602Leu)
c.1777G>T (p.Val593Leu)
n.2355G>T
n.2357G>T
c.2125G>T (p.Val709Leu)
c.1894G>T (p.Val632Leu)
n.2140G>T
11g.77174855dupCA600710634MYO7Ac.2035dup (p.Val679GlyfsTer?)
c.100dup (p.Val34GlyfsTer?)
c.2002dup (p.Val668GlyfsTer?)
c.1804dup (p.Val602GlyfsTer?)
c.1777dup (p.Val593GlyfsTer?)
n.2355dup
n.2357dup
c.2125dup (p.Val709GlyfsTer?)
c.1894dup (p.Val632GlyfsTer?)
n.2140dup
ClinVar dbSNP gnomAD v2
11g.77174856T>ACA381939391MYO7Ac.2036T>A (p.Val679Glu)
c.101T>A (p.Val34Glu)
c.2003T>A (p.Val668Glu)
c.1805T>A (p.Val602Glu)
c.1778T>A (p.Val593Glu)
n.2356T>A
n.2358T>A
c.2126T>A (p.Val709Glu)
c.1895T>A (p.Val632Glu)
n.2141T>A
11g.77174856T>CCA6197672MYO7Ac.2036T>C (p.Val679Ala)
c.101T>C (p.Val34Ala)
c.2003T>C (p.Val668Ala)
c.1805T>C (p.Val602Ala)
c.1778T>C (p.Val593Ala)
n.2356T>C
n.2358T>C
c.2126T>C (p.Val709Ala)
c.1895T>C (p.Val632Ala)
n.2141T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174856T>GCA381939393MYO7Ac.2036T>G (p.Val679Gly)
c.101T>G (p.Val34Gly)
c.2003T>G (p.Val668Gly)
c.1805T>G (p.Val602Gly)
c.1778T>G (p.Val593Gly)
n.2356T>G
n.2358T>G
c.2126T>G (p.Val709Gly)
c.1895T>G (p.Val632Gly)
n.2141T>G
11g.77174856T=CA1984113902MYO7Ac.2036T= (p.Val679=)
c.101T= (p.Val34=)
c.2003T= (p.Val668=)
c.1805T= (p.Val602=)
c.1778T= (p.Val593=)
n.2356T=
n.2358T=
c.2126T= (p.Val709=)
c.1895T= (p.Val632=)
n.2141T=
11g.77174856dupCA2695215036MYO7Ac.2036dup (p.Glu680ArgfsTer?)
c.101dup (p.Glu35ArgfsTer?)
c.2003dup (p.Glu669ArgfsTer?)
c.1805dup (p.Glu603ArgfsTer?)
c.1778dup (p.Glu594ArgfsTer?)
n.2356dup
n.2358dup
c.2126dup (p.Glu710ArgfsTer?)
c.1895dup (p.Glu633ArgfsTer?)
n.2141dup
11g.77174857A>CCA475794589MYO7Ac.2037A>C (p.Val679=)
c.102A>C (p.Val34=)
c.2004A>C (p.Val668=)
c.1806A>C (p.Val602=)
c.1779A>C (p.Val593=)
n.2357A>C
n.2359A>C
c.2127A>C (p.Val709=)
c.1896A>C (p.Val632=)
n.2142A>C
11g.77174857A>GCA475794590MYO7Ac.2037A>G (p.Val679=)
c.102A>G (p.Val34=)
c.2004A>G (p.Val668=)
c.1806A>G (p.Val602=)
c.1779A>G (p.Val593=)
n.2357A>G
n.2359A>G
c.2127A>G (p.Val709=)
c.1896A>G (p.Val632=)
n.2142A>G
11g.77174857A>TCA475794591MYO7Ac.2037A>T (p.Val679=)
c.102A>T (p.Val34=)
c.2004A>T (p.Val668=)
c.1806A>T (p.Val602=)
c.1779A>T (p.Val593=)
n.2357A>T
n.2359A>T
c.2127A>T (p.Val709=)
c.1896A>T (p.Val632=)
n.2142A>T
11g.77174858G>ACA381939396MYO7Ac.2038G>A (p.Glu680Lys)
c.103G>A (p.Glu35Lys)
c.2005G>A (p.Glu669Lys)
c.1807G>A (p.Glu603Lys)
c.1780G>A (p.Glu594Lys)
n.2358G>A
n.2360G>A
c.2128G>A (p.Glu710Lys)
c.1897G>A (p.Glu633Lys)
n.2143G>A
11g.77174858G>CCA381939399MYO7Ac.2038G>C (p.Glu680Gln)
c.103G>C (p.Glu35Gln)
c.2005G>C (p.Glu669Gln)
c.1807G>C (p.Glu603Gln)
c.1780G>C (p.Glu594Gln)
n.2358G>C
n.2360G>C
c.2128G>C (p.Glu710Gln)
c.1897G>C (p.Glu633Gln)
n.2143G>C
11g.77174858G>TCA381939395MYO7Ac.2038G>T (p.Glu680Ter)
c.103G>T (p.Glu35Ter)
c.2005G>T (p.Glu669Ter)
c.1807G>T (p.Glu603Ter)
c.1780G>T (p.Glu594Ter)
n.2358G>T
n.2360G>T
c.2128G>T (p.Glu710Ter)
c.1897G>T (p.Glu633Ter)
n.2143G>T
11g.77174859A=CA1984113907MYO7Ac.2039A= (p.Glu680=)
c.104A= (p.Glu35=)
c.2006A= (p.Glu669=)
c.1808A= (p.Glu603=)
c.1781A= (p.Glu594=)
n.2359A=
n.2361A=
c.2129A= (p.Glu710=)
c.1898A= (p.Glu633=)
n.2144A=
11g.77174859A>CCA381939400MYO7Ac.2039A>C (p.Glu680Ala)
c.104A>C (p.Glu35Ala)
c.2006A>C (p.Glu669Ala)
c.1808A>C (p.Glu603Ala)
c.1781A>C (p.Glu594Ala)
n.2359A>C
n.2361A>C
c.2129A>C (p.Glu710Ala)
c.1898A>C (p.Glu633Ala)
n.2144A>C
11g.77174859A>GCA381939402MYO7Ac.2039A>G (p.Glu680Gly)
c.104A>G (p.Glu35Gly)
c.2006A>G (p.Glu669Gly)
c.1808A>G (p.Glu603Gly)
c.1781A>G (p.Glu594Gly)
n.2359A>G
n.2361A>G
c.2129A>G (p.Glu710Gly)
c.1898A>G (p.Glu633Gly)
n.2144A>G
ClinVar dbSNP
11g.77174859A>TCA381939403MYO7Ac.2039A>T (p.Glu680Val)
c.104A>T (p.Glu35Val)
c.2006A>T (p.Glu669Val)
c.1808A>T (p.Glu603Val)
c.1781A>T (p.Glu594Val)
n.2359A>T
n.2361A>T
c.2129A>T (p.Glu710Val)
c.1898A>T (p.Glu633Val)
n.2144A>T
11g.77174860G>ACA475794592MYO7Ac.2040G>A (p.Glu680=)
c.105G>A (p.Glu35=)
c.2007G>A (p.Glu669=)
c.1809G>A (p.Glu603=)
c.1782G>A (p.Glu594=)
n.2360G>A
n.2362G>A
c.2130G>A (p.Glu710=)
c.1899G>A (p.Glu633=)
n.2145G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77174860G>CCA381939404MYO7Ac.2040G>C (p.Glu680Asp)
c.105G>C (p.Glu35Asp)
c.2007G>C (p.Glu669Asp)
c.1809G>C (p.Glu603Asp)
c.1782G>C (p.Glu594Asp)
n.2360G>C
n.2362G>C
c.2130G>C (p.Glu710Asp)
c.1899G>C (p.Glu633Asp)
n.2145G>C
11g.77174860G=CA1984113914MYO7Ac.2040G= (p.Glu680=)
c.105G= (p.Glu35=)
c.2007G= (p.Glu669=)
c.1809G= (p.Glu603=)
c.1782G= (p.Glu594=)
n.2360G=
n.2362G=
c.2130G= (p.Glu710=)
c.1899G= (p.Glu633=)
n.2145G=
11g.77174860G>TCA381939405MYO7Ac.2040G>T (p.Glu680Asp)
c.105G>T (p.Glu35Asp)
c.2007G>T (p.Glu669Asp)
c.1809G>T (p.Glu603Asp)
c.1782G>T (p.Glu594Asp)
n.2360G>T
n.2362G>T
c.2130G>T (p.Glu710Asp)
c.1899G>T (p.Glu633Asp)
n.2145G>T
11g.77174861T>ACA381939411MYO7Ac.2041T>A (p.Phe681Ile)
c.106T>A (p.Phe36Ile)
c.2008T>A (p.Phe670Ile)
c.1810T>A (p.Phe604Ile)
c.1783T>A (p.Phe595Ile)
n.2361T>A
n.2363T>A
c.2131T>A (p.Phe711Ile)
c.1900T>A (p.Phe634Ile)
n.2146T>A
11g.77174861T>CCA381939407MYO7Ac.2041T>C (p.Phe681Leu)
c.106T>C (p.Phe36Leu)
c.2008T>C (p.Phe670Leu)
c.1810T>C (p.Phe604Leu)
c.1783T>C (p.Phe595Leu)
n.2361T>C
n.2363T>C
c.2131T>C (p.Phe711Leu)
c.1900T>C (p.Phe634Leu)
n.2146T>C
11g.77174861T>GCA381939409MYO7Ac.2041T>G (p.Phe681Val)
c.106T>G (p.Phe36Val)
c.2008T>G (p.Phe670Val)
c.1810T>G (p.Phe604Val)
c.1783T>G (p.Phe595Val)
n.2361T>G
n.2363T>G
c.2131T>G (p.Phe711Val)
c.1900T>G (p.Phe634Val)
n.2146T>G
dbSNP
11g.77174861T=CA1984113921MYO7Ac.2041T= (p.Phe681=)
c.106T= (p.Phe36=)
c.2008T= (p.Phe670=)
c.1810T= (p.Phe604=)
c.1783T= (p.Phe595=)
n.2361T=
n.2363T=
c.2131T= (p.Phe711=)
c.1900T= (p.Phe634=)
n.2146T=
11g.77174862T>ACA381939412MYO7Ac.2042T>A (p.Phe681Tyr)
c.107T>A (p.Phe36Tyr)
c.2009T>A (p.Phe670Tyr)
c.1811T>A (p.Phe604Tyr)
c.1784T>A (p.Phe595Tyr)
n.2362T>A
n.2364T>A
c.2132T>A (p.Phe711Tyr)
c.1901T>A (p.Phe634Tyr)
n.2147T>A
11g.77174862T>CCA381939413MYO7Ac.2042T>C (p.Phe681Ser)
c.107T>C (p.Phe36Ser)
c.2009T>C (p.Phe670Ser)
c.1811T>C (p.Phe604Ser)
c.1784T>C (p.Phe595Ser)
n.2362T>C
n.2364T>C
c.2132T>C (p.Phe711Ser)
c.1901T>C (p.Phe634Ser)
n.2147T>C
11g.77174862T>GCA381939415MYO7Ac.2042T>G (p.Phe681Cys)
c.107T>G (p.Phe36Cys)
c.2009T>G (p.Phe670Cys)
c.1811T>G (p.Phe604Cys)
c.1784T>G (p.Phe595Cys)
n.2362T>G
n.2364T>G
c.2132T>G (p.Phe711Cys)
c.1901T>G (p.Phe634Cys)
n.2147T>G
11g.77174863T>ACA381939417MYO7Ac.2043T>A (p.Phe681Leu)
c.108T>A (p.Phe36Leu)
c.2010T>A (p.Phe670Leu)
c.1812T>A (p.Phe604Leu)
c.1785T>A (p.Phe595Leu)
n.2363T>A
n.2365T>A
c.2133T>A (p.Phe711Leu)
c.1902T>A (p.Phe634Leu)
n.2148T>A
11g.77174863T>CCA475794593MYO7Ac.2043T>C (p.Phe681=)
c.108T>C (p.Phe36=)
c.2010T>C (p.Phe670=)
c.1812T>C (p.Phe604=)
c.1785T>C (p.Phe595=)
n.2363T>C
n.2365T>C
c.2133T>C (p.Phe711=)
c.1902T>C (p.Phe634=)
n.2148T>C
11g.77174863T>GCA381939419MYO7Ac.2043T>G (p.Phe681Leu)
c.108T>G (p.Phe36Leu)
c.2010T>G (p.Phe670Leu)
c.1812T>G (p.Phe604Leu)
c.1785T>G (p.Phe595Leu)
n.2363T>G
n.2365T>G
c.2133T>G (p.Phe711Leu)
c.1902T>G (p.Phe634Leu)
n.2148T>G
11g.77174864G>ACA381939423MYO7Ac.2044G>A (p.Val682Met)
c.109G>A (p.Val37Met)
c.2011G>A (p.Val671Met)
c.1813G>A (p.Val605Met)
c.1786G>A (p.Val596Met)
n.2364G>A
n.2366G>A
c.2134G>A (p.Val712Met)
c.1903G>A (p.Val635Met)
n.2149G>A
11g.77174864G>CCA381939422MYO7Ac.2044G>C (p.Val682Leu)
c.109G>C (p.Val37Leu)
c.2011G>C (p.Val671Leu)
c.1813G>C (p.Val605Leu)
c.1786G>C (p.Val596Leu)
n.2364G>C
n.2366G>C
c.2134G>C (p.Val712Leu)
c.1903G>C (p.Val635Leu)
n.2149G>C
11g.77174864G>TCA381939420MYO7Ac.2044G>T (p.Val682Leu)
c.109G>T (p.Val37Leu)
c.2011G>T (p.Val671Leu)
c.1813G>T (p.Val605Leu)
c.1786G>T (p.Val596Leu)
n.2364G>T
n.2366G>T
c.2134G>T (p.Val712Leu)
c.1903G>T (p.Val635Leu)
n.2149G>T
11g.77174865T>ACA381939425MYO7Ac.2045T>A (p.Val682Glu)
c.110T>A (p.Val37Glu)
c.2012T>A (p.Val671Glu)
c.1814T>A (p.Val605Glu)
c.1787T>A (p.Val596Glu)
n.2365T>A
n.2367T>A
c.2135T>A (p.Val712Glu)
c.1904T>A (p.Val635Glu)
n.2150T>A
gnomAD v4
11g.77174865T>CCA381939428MYO7Ac.2045T>C (p.Val682Ala)
c.110T>C (p.Val37Ala)
c.2012T>C (p.Val671Ala)
c.1814T>C (p.Val605Ala)
c.1787T>C (p.Val596Ala)
n.2365T>C
n.2367T>C
c.2135T>C (p.Val712Ala)
c.1904T>C (p.Val635Ala)
n.2150T>C
11g.77174865T>GCA381939426MYO7Ac.2045T>G (p.Val682Gly)
c.110T>G (p.Val37Gly)
c.2012T>G (p.Val671Gly)
c.1814T>G (p.Val605Gly)
c.1787T>G (p.Val596Gly)
n.2365T>G
n.2367T>G
c.2135T>G (p.Val712Gly)
c.1904T>G (p.Val635Gly)
n.2150T>G
dbSNP
11g.77174865T=CA1984113924MYO7Ac.2045T= (p.Val682=)
c.110T= (p.Val37=)
c.2012T= (p.Val671=)
c.1814T= (p.Val605=)
c.1787T= (p.Val596=)
n.2365T=
n.2367T=
c.2135T= (p.Val712=)
c.1904T= (p.Val635=)
n.2150T=
11g.77174866G>ACA475794594MYO7Ac.2046G>A (p.Val682=)
c.111G>A (p.Val37=)
c.2013G>A (p.Val671=)
c.1815G>A (p.Val605=)
c.1788G>A (p.Val596=)
n.2366G>A
n.2368G>A
c.2136G>A (p.Val712=)
c.1905G>A (p.Val635=)
n.2151G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77174866G>CCA475794595MYO7Ac.2046G>C (p.Val682=)
c.111G>C (p.Val37=)
c.2013G>C (p.Val671=)
c.1815G>C (p.Val605=)
c.1788G>C (p.Val596=)
n.2366G>C
n.2368G>C
c.2136G>C (p.Val712=)
c.1905G>C (p.Val635=)
n.2151G>C
11g.77174866G=CA1984113930MYO7Ac.2046G= (p.Val682=)
c.111G= (p.Val37=)
c.2013G= (p.Val671=)
c.1815G= (p.Val605=)
c.1788G= (p.Val596=)
n.2366G=
n.2368G=
c.2136G= (p.Val712=)
c.1905G= (p.Val635=)
n.2151G=
11g.77174866G>TCA475794596MYO7Ac.2046G>T (p.Val682=)
c.111G>T (p.Val37=)
c.2013G>T (p.Val671=)
c.1815G>T (p.Val605=)
c.1788G>T (p.Val596=)
n.2366G>T
n.2368G>T
c.2136G>T (p.Val712=)
c.1905G>T (p.Val635=)
n.2151G>T
11g.77174867G>ACA381939430MYO7Ac.2047G>A (p.Glu683Lys)
c.112G>A (p.Glu38Lys)
c.2014G>A (p.Glu672Lys)
c.1816G>A (p.Glu606Lys)
c.1789G>A (p.Glu597Lys)
n.2367G>A
n.2369G>A
c.2137G>A (p.Glu713Lys)
c.1906G>A (p.Glu636Lys)
n.2152G>A
11g.77174867G>CCA381939433MYO7Ac.2047G>C (p.Glu683Gln)
c.112G>C (p.Glu38Gln)
c.2014G>C (p.Glu672Gln)
c.1816G>C (p.Glu606Gln)
c.1789G>C (p.Glu597Gln)
n.2367G>C
n.2369G>C
c.2137G>C (p.Glu713Gln)
c.1906G>C (p.Glu636Gln)
n.2152G>C
11g.77174867G>TCA381939432MYO7Ac.2047G>T (p.Glu683Ter)
c.112G>T (p.Glu38Ter)
c.2014G>T (p.Glu672Ter)
c.1816G>T (p.Glu606Ter)
c.1789G>T (p.Glu597Ter)
n.2367G>T
n.2369G>T
c.2137G>T (p.Glu713Ter)
c.1906G>T (p.Glu636Ter)
n.2152G>T
11g.77174868A=CA1984113936MYO7Ac.2048A= (p.Glu683=)
c.113A= (p.Glu38=)
c.2015A= (p.Glu672=)
c.1817A= (p.Glu606=)
c.1790A= (p.Glu597=)
n.2368A=
n.2370A=
c.2138A= (p.Glu713=)
c.1907A= (p.Glu636=)
n.2153A=
11g.77174868A>CCA381939435MYO7Ac.2048A>C (p.Glu683Ala)
c.113A>C (p.Glu38Ala)
c.2015A>C (p.Glu672Ala)
c.1817A>C (p.Glu606Ala)
c.1790A>C (p.Glu597Ala)
n.2368A>C
n.2370A>C
c.2138A>C (p.Glu713Ala)
c.1907A>C (p.Glu636Ala)
n.2153A>C
11g.77174868A>GCA381939438MYO7Ac.2048A>G (p.Glu683Gly)
c.113A>G (p.Glu38Gly)
c.2015A>G (p.Glu672Gly)
c.1817A>G (p.Glu606Gly)
c.1790A>G (p.Glu597Gly)
n.2368A>G
n.2370A>G
c.2138A>G (p.Glu713Gly)
c.1907A>G (p.Glu636Gly)
n.2153A>G
dbSNP
11g.77174868A>TCA381939436MYO7Ac.2048A>T (p.Glu683Val)
c.113A>T (p.Glu38Val)
c.2015A>T (p.Glu672Val)
c.1817A>T (p.Glu606Val)
c.1790A>T (p.Glu597Val)
n.2368A>T
n.2370A>T
c.2138A>T (p.Glu713Val)
c.1907A>T (p.Glu636Val)
n.2153A>T
gnomAD v4
11g.77174869G>ACA6197673MYO7Ac.2049G>A (p.Glu683=)
c.114G>A (p.Glu38=)
c.2016G>A (p.Glu672=)
c.1818G>A (p.Glu606=)
c.1791G>A (p.Glu597=)
n.2369G>A
n.2371G>A
c.2139G>A (p.Glu713=)
c.1908G>A (p.Glu636=)
n.2154G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77174869G>CCA381939440MYO7Ac.2049G>C (p.Glu683Asp)
c.114G>C (p.Glu38Asp)
c.2016G>C (p.Glu672Asp)
c.1818G>C (p.Glu606Asp)
c.1791G>C (p.Glu597Asp)
n.2369G>C
n.2371G>C
c.2139G>C (p.Glu713Asp)
c.1908G>C (p.Glu636Asp)
n.2154G>C
11g.77174869G=CA1984113943MYO7Ac.2049G= (p.Glu683=)
c.114G= (p.Glu38=)
c.2016G= (p.Glu672=)
c.1818G= (p.Glu606=)
c.1791G= (p.Glu597=)
n.2369G=
n.2371G=
c.2139G= (p.Glu713=)
c.1908G= (p.Glu636=)
n.2154G=
11g.77174869G>TCA381939442MYO7Ac.2049G>T (p.Glu683Asp)
c.114G>T (p.Glu38Asp)
c.2016G>T (p.Glu672Asp)
c.1818G>T (p.Glu606Asp)
c.1791G>T (p.Glu597Asp)
n.2369G>T
n.2371G>T
c.2139G>T (p.Glu713Asp)
c.1908G>T (p.Glu636Asp)
n.2154G>T
11g.77174870C>ACA475794597MYO7Ac.2050C>A (p.Arg684=)
c.115C>A (p.Arg39=)
c.2017C>A (p.Arg673=)
c.1819C>A (p.Arg607=)
c.1792C>A (p.Arg598=)
n.2370C>A
n.2372C>A
c.2140C>A (p.Arg714=)
c.1909C>A (p.Arg637=)
n.2155C>A
gnomAD v4
11g.77174870C=CA1984113949MYO7Ac.2050C= (p.Arg684=)
c.115C= (p.Arg39=)
c.2017C= (p.Arg673=)
c.1819C= (p.Arg607=)
c.1792C= (p.Arg598=)
n.2370C=
n.2372C=
c.2140C= (p.Arg714=)
c.1909C= (p.Arg637=)
n.2155C=
11g.77174870C>GCA381939444MYO7Ac.2050C>G (p.Arg684Gly)
c.115C>G (p.Arg39Gly)
c.2017C>G (p.Arg673Gly)
c.1819C>G (p.Arg607Gly)
c.1792C>G (p.Arg598Gly)
n.2370C>G
n.2372C>G
c.2140C>G (p.Arg714Gly)
c.1909C>G (p.Arg637Gly)
n.2155C>G
11g.77174870C>TCA6197674MYO7Ac.2050C>T (p.Arg684Trp)
c.115C>T (p.Arg39Trp)
c.2017C>T (p.Arg673Trp)
c.1819C>T (p.Arg607Trp)
c.1792C>T (p.Arg598Trp)
n.2370C>T
n.2372C>T
c.2140C>T (p.Arg714Trp)
c.1909C>T (p.Arg637Trp)
n.2155C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174871G>ACA6197675MYO7Ac.2051G>A (p.Arg684Gln)
c.116G>A (p.Arg39Gln)
c.2018G>A (p.Arg673Gln)
c.1820G>A (p.Arg607Gln)
c.1793G>A (p.Arg598Gln)
n.2371G>A
n.2373G>A
c.2141G>A (p.Arg714Gln)
c.1910G>A (p.Arg637Gln)
n.2156G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174871G>CCA381939447MYO7Ac.2051G>C (p.Arg684Pro)
c.116G>C (p.Arg39Pro)
c.2018G>C (p.Arg673Pro)
c.1820G>C (p.Arg607Pro)
c.1793G>C (p.Arg598Pro)
n.2371G>C
n.2373G>C
c.2141G>C (p.Arg714Pro)
c.1910G>C (p.Arg637Pro)
n.2156G>C
gnomAD v4
11g.77174871G=CA1984113954MYO7Ac.2051G= (p.Arg684=)
c.116G= (p.Arg39=)
c.2018G= (p.Arg673=)
c.1820G= (p.Arg607=)
c.1793G= (p.Arg598=)
n.2371G=
n.2373G=
c.2141G= (p.Arg714=)
c.1910G= (p.Arg637=)
n.2156G=
11g.77174871G>TCA381939448MYO7Ac.2051G>T (p.Arg684Leu)
c.116G>T (p.Arg39Leu)
c.2018G>T (p.Arg673Leu)
c.1820G>T (p.Arg607Leu)
c.1793G>T (p.Arg598Leu)
n.2371G>T
n.2373G>T
c.2141G>T (p.Arg714Leu)
c.1910G>T (p.Arg637Leu)
n.2156G>T
11g.77174872G>ACA475794598MYO7Ac.2052G>A (p.Arg684=)
c.117G>A (p.Arg39=)
c.2019G>A (p.Arg673=)
c.1821G>A (p.Arg607=)
c.1794G>A (p.Arg598=)
n.2372G>A
n.2374G>A
c.2142G>A (p.Arg714=)
c.1911G>A (p.Arg637=)
n.2157G>A
ClinVar gnomAD v4
11g.77174872G>CCA475794599MYO7Ac.2052G>C (p.Arg684=)
c.117G>C (p.Arg39=)
c.2019G>C (p.Arg673=)
c.1821G>C (p.Arg607=)
c.1794G>C (p.Arg598=)
n.2372G>C
n.2374G>C
c.2142G>C (p.Arg714=)
c.1911G>C (p.Arg637=)
n.2157G>C
11g.77174872G>TCA475794600MYO7Ac.2052G>T (p.Arg684=)
c.117G>T (p.Arg39=)
c.2019G>T (p.Arg673=)
c.1821G>T (p.Arg607=)
c.1794G>T (p.Arg598=)
n.2372G>T
n.2374G>T
c.2142G>T (p.Arg714=)
c.1911G>T (p.Arg637=)
n.2157G>T
11g.77174873T>ACA381939449MYO7Ac.2053T>A (p.Tyr685Asn)
c.118T>A (p.Tyr40Asn)
c.2020T>A (p.Tyr674Asn)
c.1822T>A (p.Tyr608Asn)
c.1795T>A (p.Tyr599Asn)
n.2373T>A
n.2375T>A
c.2143T>A (p.Tyr715Asn)
c.1912T>A (p.Tyr638Asn)
n.2158T>A
11g.77174873T>CCA381939450MYO7Ac.2053T>C (p.Tyr685His)
c.118T>C (p.Tyr40His)
c.2020T>C (p.Tyr674His)
c.1822T>C (p.Tyr608His)
c.1795T>C (p.Tyr599His)
n.2373T>C
n.2375T>C
c.2143T>C (p.Tyr715His)
c.1912T>C (p.Tyr638His)
n.2158T>C
11g.77174873T>GCA381939452MYO7Ac.2053T>G (p.Tyr685Asp)
c.118T>G (p.Tyr40Asp)
c.2020T>G (p.Tyr674Asp)
c.1822T>G (p.Tyr608Asp)
c.1795T>G (p.Tyr599Asp)
n.2373T>G
n.2375T>G
c.2143T>G (p.Tyr715Asp)
c.1912T>G (p.Tyr638Asp)
n.2158T>G
gnomAD v4
11g.77174874A>CCA381939454MYO7Ac.2054A>C (p.Tyr685Ser)
c.119A>C (p.Tyr40Ser)
c.2021A>C (p.Tyr674Ser)
c.1823A>C (p.Tyr608Ser)
c.1796A>C (p.Tyr599Ser)
n.2374A>C
n.2376A>C
c.2144A>C (p.Tyr715Ser)
c.1913A>C (p.Tyr638Ser)
n.2159A>C
gnomAD v4
11g.77174874A>GCA381939455MYO7Ac.2054A>G (p.Tyr685Cys)
c.119A>G (p.Tyr40Cys)
c.2021A>G (p.Tyr674Cys)
c.1823A>G (p.Tyr608Cys)
c.1796A>G (p.Tyr599Cys)
n.2374A>G
n.2376A>G
c.2144A>G (p.Tyr715Cys)
c.1913A>G (p.Tyr638Cys)
n.2159A>G
11g.77174874A>TCA381939457MYO7Ac.2054A>T (p.Tyr685Phe)
c.119A>T (p.Tyr40Phe)
c.2021A>T (p.Tyr674Phe)
c.1823A>T (p.Tyr608Phe)
c.1796A>T (p.Tyr599Phe)
n.2374A>T
n.2376A>T
c.2144A>T (p.Tyr715Phe)
c.1913A>T (p.Tyr638Phe)
n.2159A>T
11g.77174875C>ACA381939458MYO7Ac.2055C>A (p.Tyr685Ter)
c.120C>A (p.Tyr40Ter)
c.2022C>A (p.Tyr674Ter)
c.1824C>A (p.Tyr608Ter)
c.1797C>A (p.Tyr599Ter)
n.2375C>A
n.2377C>A
c.2145C>A (p.Tyr715Ter)
c.1914C>A (p.Tyr638Ter)
n.2160C>A
11g.77174875C>GCA381939459MYO7Ac.2055C>G (p.Tyr685Ter)
c.120C>G (p.Tyr40Ter)
c.2022C>G (p.Tyr674Ter)
c.1824C>G (p.Tyr608Ter)
c.1797C>G (p.Tyr599Ter)
n.2375C>G
n.2377C>G
c.2145C>G (p.Tyr715Ter)
c.1914C>G (p.Tyr638Ter)
n.2160C>G
11g.77174875C>TCA475794601MYO7Ac.2055C>T (p.Tyr685=)
c.120C>T (p.Tyr40=)
c.2022C>T (p.Tyr674=)
c.1824C>T (p.Tyr608=)
c.1797C>T (p.Tyr599=)
n.2375C>T
n.2377C>T
c.2145C>T (p.Tyr715=)
c.1914C>T (p.Tyr638=)
n.2160C>T
11g.77174876C>ACA381939461MYO7Ac.2056C>A (p.Arg686Ser)
c.121C>A (p.Arg41Ser)
c.2023C>A (p.Arg675Ser)
c.1825C>A (p.Arg609Ser)
c.1798C>A (p.Arg600Ser)
n.2376C>A
n.2378C>A
c.2146C>A (p.Arg716Ser)
c.1915C>A (p.Arg639Ser)
n.2161C>A
11g.77174876C=CA1984113962MYO7Ac.2056C= (p.Arg686=)
c.121C= (p.Arg41=)
c.2023C= (p.Arg675=)
c.1825C= (p.Arg609=)
c.1798C= (p.Arg600=)
n.2376C=
n.2378C=
c.2146C= (p.Arg716=)
c.1915C= (p.Arg639=)
n.2161C=
11g.77174876C>GCA381939463MYO7Ac.2056C>G (p.Arg686Gly)
c.121C>G (p.Arg41Gly)
c.2023C>G (p.Arg675Gly)
c.1825C>G (p.Arg609Gly)
c.1798C>G (p.Arg600Gly)
n.2376C>G
n.2378C>G
c.2146C>G (p.Arg716Gly)
c.1915C>G (p.Arg639Gly)
n.2161C>G
11g.77174876C>TCA6197676MYO7Ac.2056C>T (p.Arg686Cys)
c.121C>T (p.Arg41Cys)
c.2023C>T (p.Arg675Cys)
c.1825C>T (p.Arg609Cys)
c.1798C>T (p.Arg600Cys)
n.2376C>T
n.2378C>T
c.2146C>T (p.Arg716Cys)
c.1915C>T (p.Arg639Cys)
n.2161C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174877G>ACA6197677MYO7Ac.2057G>A (p.Arg686His)
c.122G>A (p.Arg41His)
c.2024G>A (p.Arg675His)
c.1826G>A (p.Arg609His)
c.1799G>A (p.Arg600His)
n.2377G>A
n.2379G>A
c.2147G>A (p.Arg716His)
c.1916G>A (p.Arg639His)
n.2162G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174877G>CCA381939464MYO7Ac.2057G>C (p.Arg686Pro)
c.122G>C (p.Arg41Pro)
c.2024G>C (p.Arg675Pro)
c.1826G>C (p.Arg609Pro)
c.1799G>C (p.Arg600Pro)
n.2377G>C
n.2379G>C
c.2147G>C (p.Arg716Pro)
c.1916G>C (p.Arg639Pro)
n.2162G>C
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77174877G=CA1984113973MYO7Ac.2057G= (p.Arg686=)
c.122G= (p.Arg41=)
c.2024G= (p.Arg675=)
c.1826G= (p.Arg609=)
c.1799G= (p.Arg600=)
n.2377G=
n.2379G=
c.2147G= (p.Arg716=)
c.1916G= (p.Arg639=)
n.2162G=
11g.77174877G>TCA381939466MYO7Ac.2057G>T (p.Arg686Leu)
c.122G>T (p.Arg41Leu)
c.2024G>T (p.Arg675Leu)
c.1826G>T (p.Arg609Leu)
c.1799G>T (p.Arg600Leu)
n.2377G>T
n.2379G>T
c.2147G>T (p.Arg716Leu)
c.1916G>T (p.Arg639Leu)
n.2162G>T
11g.77174878T>ACA475794602MYO7Ac.2058T>A (p.Arg686=)
c.123T>A (p.Arg41=)
c.2025T>A (p.Arg675=)
c.1827T>A (p.Arg609=)
c.1800T>A (p.Arg600=)
n.2378T>A
n.2380T>A
c.2148T>A (p.Arg716=)
c.1917T>A (p.Arg639=)
n.2163T>A
11g.77174878T>CCA475794603MYO7Ac.2058T>C (p.Arg686=)
c.123T>C (p.Arg41=)
c.2025T>C (p.Arg675=)
c.1827T>C (p.Arg609=)
c.1800T>C (p.Arg600=)
n.2378T>C
n.2380T>C
c.2148T>C (p.Arg716=)
c.1917T>C (p.Arg639=)
n.2163T>C
11g.77174878T>GCA475794604MYO7Ac.2058T>G (p.Arg686=)
c.123T>G (p.Arg41=)
c.2025T>G (p.Arg675=)
c.1827T>G (p.Arg609=)
c.1800T>G (p.Arg600=)
n.2378T>G
n.2380T>G
c.2148T>G (p.Arg716=)
c.1917T>G (p.Arg639=)
n.2163T>G
dbSNP
11g.77174878T=CA1984113980MYO7Ac.2058T= (p.Arg686=)
c.123T= (p.Arg41=)
c.2025T= (p.Arg675=)
c.1827T= (p.Arg609=)
c.1800T= (p.Arg600=)
n.2378T=
n.2380T=
c.2148T= (p.Arg716=)
c.1917T= (p.Arg639=)
n.2163T=
11g.77174879G>ACA381939467MYO7Ac.2059G>A (p.Val687Met)
c.124G>A (p.Val42Met)
c.2026G>A (p.Val676Met)
c.1828G>A (p.Val610Met)
c.1801G>A (p.Val601Met)
n.2379G>A
n.2381G>A
c.2149G>A (p.Val717Met)
c.1918G>A (p.Val640Met)
n.2164G>A
gnomAD v4
11g.77174879G>CCA381939469MYO7Ac.2059G>C (p.Val687Leu)
c.124G>C (p.Val42Leu)
c.2026G>C (p.Val676Leu)
c.1828G>C (p.Val610Leu)
c.1801G>C (p.Val601Leu)
n.2379G>C
n.2381G>C
c.2149G>C (p.Val717Leu)
c.1918G>C (p.Val640Leu)
n.2164G>C
11g.77174879G>TCA381939470MYO7Ac.2059G>T (p.Val687Leu)
c.124G>T (p.Val42Leu)
c.2026G>T (p.Val676Leu)
c.1828G>T (p.Val610Leu)
c.1801G>T (p.Val601Leu)
n.2379G>T
n.2381G>T
c.2149G>T (p.Val717Leu)
c.1918G>T (p.Val640Leu)
n.2164G>T
11g.77174880T>ACA381939471MYO7Ac.2060T>A (p.Val687Glu)
c.125T>A (p.Val42Glu)
c.2027T>A (p.Val676Glu)
c.1829T>A (p.Val610Glu)
c.1802T>A (p.Val601Glu)
n.2380T>A
n.2382T>A
c.2150T>A (p.Val717Glu)
c.1919T>A (p.Val640Glu)
n.2165T>A
11g.77174880T>CCA381939472MYO7Ac.2060T>C (p.Val687Ala)
c.125T>C (p.Val42Ala)
c.2027T>C (p.Val676Ala)
c.1829T>C (p.Val610Ala)
c.1802T>C (p.Val601Ala)
n.2380T>C
n.2382T>C
c.2150T>C (p.Val717Ala)
c.1919T>C (p.Val640Ala)
n.2165T>C
gnomAD v4
11g.77174880T>GCA381939473MYO7Ac.2060T>G (p.Val687Gly)
c.125T>G (p.Val42Gly)
c.2027T>G (p.Val676Gly)
c.1829T>G (p.Val610Gly)
c.1802T>G (p.Val601Gly)
n.2380T>G
n.2382T>G
c.2150T>G (p.Val717Gly)
c.1919T>G (p.Val640Gly)
n.2165T>G
11g.77174886_77174888dupCA2792769266MYO7Ac.2066_2068dup (p.Leu689_Pro690insLeu)
c.131_133dup (p.Leu44_Pro45insLeu)
c.2033_2035dup (p.Leu678_Pro679insLeu)
c.1835_1837dup (p.Leu612_Pro613insLeu)
c.1808_1810dup (p.Leu603_Pro604insLeu)
n.2386_2388dup
n.2388_2390dup
c.2156_2158dup (p.Leu719_Pro720insLeu)
c.1925_1927dup (p.Leu642_Pro643insLeu)
n.2171_2173dup

Number of alleles fetched