Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.77174779del | CA2695215034 | MYO7A | c.1959del (p.Arg654AlafsTer8) c.24del (p.Arg9AlafsTer8) c.1926del (p.Arg643AlafsTer8) c.1728del (p.Arg577AlafsTer8) c.1701del (p.Arg568AlafsTer8) n.2279del n.2281del c.2049del (p.Arg684AlafsTer8) c.1818del (p.Arg607AlafsTer8) n.2064del | |
11 | g.77174779G>A | CA475794530 | MYO7A | c.1959G>A (p.Val653=) c.24G>A (p.Val8=) c.1926G>A (p.Val642=) c.1728G>A (p.Val576=) c.1701G>A (p.Val567=) n.2279G>A n.2281G>A c.2049G>A (p.Val683=) c.1818G>A (p.Val606=) n.2064G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.77174779G>C | CA475794532 | MYO7A | c.1959G>C (p.Val653=) c.24G>C (p.Val8=) c.1926G>C (p.Val642=) c.1728G>C (p.Val576=) c.1701G>C (p.Val567=) n.2279G>C n.2281G>C c.2049G>C (p.Val683=) c.1818G>C (p.Val606=) n.2064G>C | |
11 | g.77174779G= | CA1984113564 | MYO7A | c.1959G= (p.Val653=) c.24G= (p.Val8=) c.1926G= (p.Val642=) c.1728G= (p.Val576=) c.1701G= (p.Val567=) n.2279G= n.2281G= c.2049G= (p.Val683=) c.1818G= (p.Val606=) n.2064G= | |
11 | g.77174779G>T | CA475794531 | MYO7A | c.1959G>T (p.Val653=) c.24G>T (p.Val8=) c.1926G>T (p.Val642=) c.1728G>T (p.Val576=) c.1701G>T (p.Val567=) n.2279G>T n.2281G>T c.2049G>T (p.Val683=) c.1818G>T (p.Val606=) n.2064G>T | |
11 | g.77174780C>A | CA381939149 | MYO7A | c.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 |
11 | g.77174780C= | CA1984113569 | MYO7A | c.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= | |
11 | g.77174780C>G | CA381939151 | MYO7A | c.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 | |
11 | g.77174780C>T | CA6197654 | MYO7A | c.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 |
11 | g.77174781G>A | CA6197655 | MYO7A | c.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 |
11 | g.77174781G>C | CA381939153 | MYO7A | c.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 |
11 | g.77174781G= | CA1984113582 | MYO7A | c.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= | |
11 | g.77174781G>T | CA381939154 | MYO7A | c.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 | |
11 | g.77174782C>A | CA475794533 | MYO7A | c.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 | |
11 | g.77174782C>G | CA475794534 | MYO7A | c.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 | |
11 | g.77174782C>T | CA475794535 | MYO7A | c.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 | |
11 | g.77174783C>A | CA381939158 | MYO7A | c.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 | |
11 | g.77174783C= | CA1984113590 | MYO7A | c.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= | |
11 | g.77174783C>G | CA381939156 | MYO7A | c.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 | |
11 | g.77174783C>T | CA278638 | MYO7A | c.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 |
11 | g.77174784A= | CA1984113596 | MYO7A | c.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= | |
11 | g.77174784A>C | CA381939159 | MYO7A | c.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 | |
11 | g.77174784A>G | CA381939162 | MYO7A | c.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 |
11 | g.77174784A>T | CA381939161 | MYO7A | c.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 | |
11 | g.77174785G>A | CA475794536 | MYO7A | c.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 | |
11 | g.77174785G>C | CA381939164 | MYO7A | c.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 | |
11 | g.77174785G>T | CA381939166 | MYO7A | c.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 | |
11 | g.77174786C>A | CA381939167 | MYO7A | c.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 | |
11 | g.77174786C>G | CA381939168 | MYO7A | c.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 | |
11 | g.77174786C>T | CA475794537 | MYO7A | c.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 | |
11 | g.77174786_77174787del | CA2838267882 | MYO7A | c.1966_1967del (p.Leu656AlafsTer?) c.31_32del (p.Leu11AlafsTer?) c.1933_1934del (p.Leu645AlafsTer?) c.1735_1736del (p.Leu579AlafsTer?) c.1708_1709del (p.Leu570AlafsTer?) n.2286_2287del n.2288_2289del c.2056_2057del (p.Leu686AlafsTer?) c.1825_1826del (p.Leu609AlafsTer?) n.2071_2072del | |
11 | g.77174787T>A | CA381939170 | MYO7A | c.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 | |
11 | g.77174787T>C | CA381939172 | MYO7A | c.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 | |
11 | g.77174787T>G | CA381939174 | MYO7A | c.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 | |
11 | g.77174787_77174790del | CA2792769265 | MYO7A | c.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 | |
11 | g.77174788G>A | CA475794538 | MYO7A | c.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 | |
11 | g.77174788G>C | CA475794539 | MYO7A | c.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 | |
11 | g.77174788G>T | CA475794540 | MYO7A | c.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 |
11 | g.77174789C>A | CA475794541 | MYO7A | c.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 | |
11 | g.77174789C= | CA1984113606 | MYO7A | c.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= | |
11 | g.77174789C>G | CA381939175 | MYO7A | c.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 | |
11 | g.77174789C>T | CA16616838 | MYO7A | c.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 |
11 | g.77174790G>A | CA6197656 | MYO7A | c.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 |
11 | g.77174790G>C | CA381939178 | MYO7A | c.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 | |
11 | g.77174790G= | CA1984113618 | MYO7A | c.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= | |
11 | g.77174790G>T | CA381939180 | MYO7A | c.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 | |
11 | g.77174791G>A | CA475794542 | MYO7A | c.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 |
11 | g.77174791G>C | CA475794543 | MYO7A | c.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 | |
11 | g.77174791G= | CA1984113624 | MYO7A | c.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= | |
11 | g.77174791G>T | CA475794544 | MYO7A | c.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 | |
11 | g.77174792T>A | CA381939185 | MYO7A | c.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 | |
11 | g.77174792T>C | CA381939181 | MYO7A | c.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 | |
11 | g.77174792T>G | CA381939183 | MYO7A | c.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 | |
11 | g.77174793del | CA2838032846 | MYO7A | c.1973del (p.Tyr658SerfsTer4) c.38del (p.Tyr13SerfsTer4) c.1940del (p.Tyr647SerfsTer4) c.1742del (p.Tyr581SerfsTer4) c.1715del (p.Tyr572SerfsTer4) n.2293del n.2295del c.2063del (p.Tyr688SerfsTer4) c.1832del (p.Tyr611SerfsTer4) n.2078del | |
11 | g.77174793A>C | CA381939186 | MYO7A | c.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 | |
11 | g.77174793A>G | CA381939187 | MYO7A | c.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 | |
11 | g.77174793A>T | CA381939189 | MYO7A | c.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 | |
11 | g.77174794C>A | CA381939191 | MYO7A | c.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 |
11 | g.77174794C= | CA1984113628 | MYO7A | c.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= | |
11 | g.77174794C>G | CA381939192 | MYO7A | c.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 |
11 | g.77174794C>T | CA475794545 | MYO7A | c.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 |
11 | g.77174795T>A | CA381939194 | MYO7A | c.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 | |
11 | g.77174795T>C | CA381939195 | MYO7A | c.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 | |
11 | g.77174795T>G | CA381939197 | MYO7A | c.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 | |
11 | g.77174796C>A | CA10581681 | MYO7A | c.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 |
11 | g.77174796C= | CA1984113639 | MYO7A | c.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= | |
11 | g.77174796C>G | CA381939199 | MYO7A | c.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 | |
11 | g.77174796C>T | CA381939201 | MYO7A | c.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 | |
11 | g.77174796_77174797delinsCA | CA1984113644 | MYO7A | c.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 | |
11 | g.77174797del | CA645509493 | MYO7A | c.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 |
11 | g.77174797A= | CA1984113654 | MYO7A | c.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= | |
11 | g.77174797A>C | CA475794546 | MYO7A | c.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 | |
11 | g.77174797A>G | CA475794547 | MYO7A | c.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 |
11 | g.77174797A>T | CA475794548 | MYO7A | c.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 | |
11 | g.77174797_77174798del | CA2574931094 | MYO7A | c.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 | |
11 | g.77174798G>A | CA381939206 | MYO7A | c.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 |
11 | g.77174798G>C | CA381939204 | MYO7A | c.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 | |
11 | g.77174798G>T | CA381939203 | MYO7A | c.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 | |
11 | g.77174799G>A | CA381939211 | MYO7A | c.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 | |
11 | g.77174799G>C | CA381939208 | MYO7A | c.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 |
11 | g.77174799G= | CA1984113660 | MYO7A | c.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= | |
11 | g.77174799G>T | CA381939209 | MYO7A | c.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 |
11 | g.77174800A>C | CA475794551 | MYO7A | c.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 | |
11 | g.77174800A>G | CA475794549 | MYO7A | c.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 | |
11 | g.77174800A>T | CA475794550 | MYO7A | c.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 |
11 | g.77174801A>C | CA381939212 | MYO7A | c.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 | |
11 | g.77174801A>G | CA381939214 | MYO7A | c.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 | |
11 | g.77174801A>T | CA381939216 | MYO7A | c.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 | |
11 | g.77174802T>A | CA381939220 | MYO7A | c.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 | |
11 | g.77174802T>C | CA381939219 | MYO7A | c.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 | |
11 | g.77174802T>G | CA381939218 | MYO7A | c.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 | |
11 | g.77174803G>A | CA381939222 | MYO7A | c.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 | |
11 | g.77174803G>C | CA381939224 | MYO7A | c.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 | |
11 | g.77174803G>T | CA381939226 | MYO7A | c.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 | |
11 | g.77174804A= | CA1984113673 | MYO7A | c.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= | |
11 | g.77174804A>C | CA381939227 | MYO7A | c.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 | |
11 | g.77174804A>G | CA381939228 | MYO7A | c.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 | |
11 | g.77174804A>T | CA6197657 | MYO7A | c.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 |
11 | g.77174805T>A | CA381939230 | MYO7A | c.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 |
11 | g.77174805T>C | CA381939233 | MYO7A | c.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 | |
11 | g.77174805T>G | CA381939231 | MYO7A | c.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 | |
11 | g.77174806G>A | CA381939235 | MYO7A | c.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 | |
11 | g.77174806G>C | CA381939236 | MYO7A | c.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 | |
11 | g.77174806G>T | CA381939237 | MYO7A | c.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 | |
11 | g.77174807G>A | CA381939239 | MYO7A | c.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 | |
11 | g.77174807G>C | CA381939241 | MYO7A | c.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 | |
11 | g.77174807G>T | CA381939243 | MYO7A | c.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 | |
11 | g.77174808A>C | CA381939244 | MYO7A | c.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 | |
11 | g.77174808A>G | CA381939246 | MYO7A | c.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 | |
11 | g.77174808A>T | CA381939247 | MYO7A | c.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 | |
11 | g.77174809G>A | CA475794556 | MYO7A | c.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 |
11 | g.77174809G>C | CA381939249 | MYO7A | c.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 | |
11 | g.77174809G= | CA1984113680 | MYO7A | c.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= | |
11 | g.77174809G>T | CA381939251 | MYO7A | c.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 | |
11 | g.77174810A= | CA1984113688 | MYO7A | c.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= | |
11 | g.77174810A>C | CA381939254 | MYO7A | c.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 | |
11 | g.77174810A>G | CA6197658 | MYO7A | c.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 |
11 | g.77174810A>T | CA381939252 | MYO7A | c.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 | |
11 | g.77174811C>A | CA381939256 | MYO7A | c.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 | |
11 | g.77174811C>G | CA381939259 | MYO7A | c.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 | |
11 | g.77174811C>T | CA381939258 | MYO7A | c.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 | |
11 | g.77174812C>A | CA475794557 | MYO7A | c.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 | |
11 | g.77174812C>G | CA475794559 | MYO7A | c.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 | |
11 | g.77174812C>T | CA475794558 | MYO7A | c.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 | |
11 | g.77174813A= | CA1984113695 | MYO7A | c.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= | |
11 | g.77174813A>C | CA381939261 | MYO7A | c.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 | |
11 | g.77174813A>G | CA381939263 | MYO7A | c.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 |
11 | g.77174813A>T | CA381939264 | MYO7A | c.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 | |
11 | g.77174814T>A | CA381939265 | MYO7A | c.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 |
11 | g.77174814T>C | CA381939266 | MYO7A | c.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 | |
11 | g.77174814T>G | CA381939268 | MYO7A | c.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 | |
11 | g.77174815C>A | CA475794560 | MYO7A | c.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 | |
11 | g.77174815C>G | CA381939269 | MYO7A | c.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 | |
11 | g.77174815C>T | CA475794561 | MYO7A | c.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 |
11 | g.77174816C>A | CA475794562 | MYO7A | c.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 |
11 | g.77174816C= | CA1984113705 | MYO7A | c.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= | |
11 | g.77174816C>G | CA381939270 | MYO7A | c.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 | |
11 | g.77174816C>T | CA277967 | MYO7A | c.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 |
11 | g.77174817G>A | CA6197659 | MYO7A | c.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 |
11 | g.77174817G>C | CA381939272 | MYO7A | c.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 |
11 | g.77174817G= | CA1984113718 | MYO7A | c.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= | |
11 | g.77174817G>T | CA381939274 | MYO7A | c.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 | |
11 | g.77174818A>C | CA475794563 | MYO7A | c.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 | |
11 | g.77174818A>G | CA475794564 | MYO7A | c.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 | |
11 | g.77174818A>T | CA475794566 | MYO7A | c.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 | |
11 | g.77174819A>C | CA381939279 | MYO7A | c.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 | |
11 | g.77174819A>G | CA381939276 | MYO7A | c.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 | |
11 | g.77174819A>T | CA381939278 | MYO7A | c.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 | |
11 | g.77174820T>A | CA381939281 | MYO7A | c.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 |
11 | g.77174820T>C | CA381939282 | MYO7A | c.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 | |
11 | g.77174820T>G | CA381939284 | MYO7A | c.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 | |
11 | g.77174821C>A | CA6197660 | MYO7A | c.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 |
11 | g.77174821C= | CA1984113730 | MYO7A | c.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= | |
11 | g.77174821C>G | CA381939286 | MYO7A | c.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 | |
11 | g.77174821C>T | CA475794567 | MYO7A | c.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 |
11 | g.77174822C>A | CA381939288 | MYO7A | c.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 | |
11 | g.77174822C= | CA1984113746 | MYO7A | c.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= | |
11 | g.77174822C>G | CA381939289 | MYO7A | c.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 | |
11 | g.77174822C>T | CA132231 | MYO7A | c.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 |
11 | g.77174823G>A | CA224837120 | MYO7A | c.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 |
11 | g.77174823G>C | CA6197661 | MYO7A | c.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 |
11 | g.77174823G= | CA1984113765 | MYO7A | c.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= | |
11 | g.77174823G>T | CA381939293 | MYO7A | c.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 |
11 | g.77174824C>A | CA475794568 | MYO7A | c.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 |
11 | g.77174824C= | CA1984113777 | MYO7A | c.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= | |
11 | g.77174824C>G | CA475794569 | MYO7A | c.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 | |
11 | g.77174824C>T | CA475794570 | MYO7A | c.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 | |
11 | g.77174825C>A | CA6197662 | MYO7A | c.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 |
11 | g.77174825C= | CA1984113784 | MYO7A | c.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= | |
11 | g.77174825C>G | CA381939296 | MYO7A | c.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 |
11 | g.77174825C>T | CA278640 | MYO7A | c.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 |
11 | g.77174826G>A | CA6197663 | MYO7A | c.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 |
11 | g.77174826G>C | CA381939297 | MYO7A | c.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 | |
11 | g.77174826G= | CA1984113794 | MYO7A | c.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= | |
11 | g.77174826G>T | CA381939298 | MYO7A | c.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 | |
11 | g.77174827A>C | CA475794573 | MYO7A | c.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 | |
11 | g.77174827A>G | CA475794571 | MYO7A | c.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 | |
11 | g.77174827A>T | CA475794572 | MYO7A | c.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 | |
11 | g.77174828G>A | CA381939300 | MYO7A | c.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 | |
11 | g.77174828G>C | CA381939302 | MYO7A | c.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 |
11 | g.77174828G>T | CA381939304 | MYO7A | c.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 | |
11 | g.77174829C>A | CA381939308 | MYO7A | c.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 | |
11 | g.77174829C>G | CA381939306 | MYO7A | c.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 | |
11 | g.77174829C>T | CA381939305 | MYO7A | c.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 | |
11 | g.77174830T>A | CA475794574 | MYO7A | c.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 | |
11 | g.77174830T>C | CA475794575 | MYO7A | c.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 |
11 | g.77174830T>G | CA475794576 | MYO7A | c.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 | |
11 | g.77174831G>A | CA177376 | MYO7A | c.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 |
11 | g.77174831G>C | CA381939310 | MYO7A | c.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 | |
11 | g.77174831G= | CA1984113805 | MYO7A | c.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= | |
11 | g.77174831G>T | CA381939312 | MYO7A | c.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 | |
11 | g.77174832G>A | CA381939313 | MYO7A | c.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 |
11 | g.77174832G>C | CA381939314 | MYO7A | c.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 |
11 | g.77174832G= | CA1984113808 | MYO7A | c.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= | |
11 | g.77174832G>T | CA381939315 | MYO7A | c.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 |
11 | g.77174833C>A | CA475794577 | MYO7A | c.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 | |
11 | g.77174833C>G | CA475794578 | MYO7A | c.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 | |
11 | g.77174833C>T | CA475794579 | MYO7A | c.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 | |
11 | g.77174834T>A | CA381939317 | MYO7A | c.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 | |
11 | g.77174834T>C | CA6197664 | MYO7A | c.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 |
11 | g.77174834T>G | CA381939319 | MYO7A | c.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 | |
11 | g.77174834T= | CA1984113815 | MYO7A | c.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= | |
11 | g.77174835A= | CA1984113819 | MYO7A | c.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= | |
11 | g.77174835A>C | CA381939321 | MYO7A | c.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 |
11 | g.77174835A>G | CA381939323 | MYO7A | c.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 | |
11 | g.77174835A>T | CA381939324 | MYO7A | c.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 | |
11 | g.77174835_77174836delinsAC | CA1984113820 | MYO7A | c.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 | |
11 | g.77174836C>A | CA381939325 | MYO7A | c.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 | |
11 | g.77174836C= | CA1984113828 | MYO7A | c.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= | |
11 | g.77174836C>G | CA381939327 | MYO7A | c.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 | |
11 | g.77174836C>T | CA475794580 | MYO7A | c.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 |
11 | g.77174839del | CA680376819 | MYO7A | c.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 |
11 | g.77174837C>A | CA381939329 | MYO7A | c.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 | |
11 | g.77174837C>G | CA381939330 | MYO7A | c.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 | |
11 | g.77174837C>T | CA381939331 | MYO7A | c.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 |
11 | g.77174838C>A | CA6197665 | MYO7A | c.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 |
11 | g.77174838C= | CA1984113845 | MYO7A | c.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= | |
11 | g.77174838C>G | CA381939333 | MYO7A | c.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 | |
11 | g.77174838C>T | CA381939335 | MYO7A | c.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 |
11 | g.77174839C>A | CA475794581 | MYO7A | c.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 |
11 | g.77174839C= | CA1984113847 | MYO7A | c.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= | |
11 | g.77174839C>G | CA475794582 | MYO7A | c.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 |
11 | g.77174839C>T | CA6197666 | MYO7A | c.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 |
11 | g.77174840A= | CA1984113849 | MYO7A | c.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= | |
11 | g.77174840A>C | CA381939337 | MYO7A | c.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 |
11 | g.77174840A>G | CA381939339 | MYO7A | c.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 | |
11 | g.77174840A>T | CA6197667 | MYO7A | c.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 |
11 | g.77174841T>A | CA381939340 | MYO7A | c.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 | |
11 | g.77174841T>C | CA381939344 | MYO7A | c.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 | |
11 | g.77174841T>G | CA381939342 | MYO7A | c.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 | |
11 | g.77174842C>A | CA475794583 | MYO7A | c.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 | |
11 | g.77174842C= | CA1984113853 | MYO7A | c.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= | |
11 | g.77174842C>G | CA381939345 | MYO7A | c.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 | |
11 | g.77174842C>T | CA475794584 | MYO7A | c.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 |
11 | g.77174843C>A | CA381939346 | MYO7A | c.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 | |
11 | g.77174843C= | CA1984113860 | MYO7A | c.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= | |
11 | g.77174843C>G | CA381939348 | MYO7A | c.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 | |
11 | g.77174843C>T | CA6197668 | MYO7A | c.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 |
11 | g.77174844G>A | CA6197669 | MYO7A | c.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 |
11 | g.77174844G>C | CA381939351 | MYO7A | c.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 | |
11 | g.77174844G= | CA1984113864 | MYO7A | c.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= | |
11 | g.77174844G>T | CA381939352 | MYO7A | c.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 | |
11 | g.77174845C>A | CA475794585 | MYO7A | c.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 | |
11 | g.77174845C= | CA1984113868 | MYO7A | c.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= | |
11 | g.77174845C>G | CA475794586 | MYO7A | c.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 | |
11 | g.77174845C>T | CA240821 | MYO7A | c.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 |
11 | g.77174846T>A | CA381939355 | MYO7A | c.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 |
11 | g.77174846T>C | CA6197670 | MYO7A | c.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 |
11 | g.77174846T>G | CA381939357 | MYO7A | c.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 | |
11 | g.77174846T= | CA1984113872 | MYO7A | c.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= | |
11 | g.77174847A>C | CA381939362 | MYO7A | c.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 | |
11 | g.77174847A>G | CA381939359 | MYO7A | c.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 |
11 | g.77174847A>T | CA381939360 | MYO7A | c.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 | |
11 | g.77174848C>A | CA381939363 | MYO7A | c.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 | |
11 | g.77174848C>G | CA381939365 | MYO7A | c.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 | |
11 | g.77174848C>T | CA475794587 | MYO7A | c.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 | |
11 | g.77174849A>C | CA381939366 | MYO7A | c.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 | |
11 | g.77174849A>G | CA381939368 | MYO7A | c.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 | |
11 | g.77174849A>T | CA381939370 | MYO7A | c.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 | |
11 | g.77174850G>A | CA381939372 | MYO7A | c.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 | |
11 | g.77174850G>C | CA381939373 | MYO7A | c.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 | |
11 | g.77174850G>T | CA381939374 | MYO7A | c.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 | |
11 | g.77174851C>A | CA381939375 | MYO7A | c.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 | |
11 | g.77174851C= | CA1984113876 | MYO7A | c.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= | |
11 | g.77174851C>G | CA381939376 | MYO7A | c.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 | |
11 | g.77174851C>T | CA475794588 | MYO7A | c.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 |
11 | g.77174852T>A | CA381939378 | MYO7A | c.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 | |
11 | g.77174852T>C | CA381939379 | MYO7A | c.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 | |
11 | g.77174852T>G | CA381939377 | MYO7A | c.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 | |
11 | g.77174853T>A | CA381939381 | MYO7A | c.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 | |
11 | g.77174853T>C | CA381939382 | MYO7A | c.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 | |
11 | g.77174853T>G | CA381939384 | MYO7A | c.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 | |
11 | g.77174854C>A | CA381939386 | MYO7A | c.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 | |
11 | g.77174854C= | CA1984113882 | MYO7A | c.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= | |
11 | g.77174854C>G | CA381939387 | MYO7A | c.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 |
11 | g.77174854C>T | CA6197671 | MYO7A | c.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 |
11 | g.77174855G>A | CA132233 | MYO7A | c.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 |
11 | g.77174855G>C | CA381939388 | MYO7A | c.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 | |
11 | g.77174855G= | CA1984113898 | MYO7A | c.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= | |
11 | g.77174855G>T | CA381939390 | MYO7A | c.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 | |
11 | g.77174855dup | CA600710634 | MYO7A | c.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 |
11 | g.77174856T>A | CA381939391 | MYO7A | c.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 | |
11 | g.77174856T>C | CA6197672 | MYO7A | c.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 |
11 | g.77174856T>G | CA381939393 | MYO7A | c.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 | |
11 | g.77174856T= | CA1984113902 | MYO7A | c.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= | |
11 | g.77174856dup | CA2695215036 | MYO7A | c.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 | |
11 | g.77174857A>C | CA475794589 | MYO7A | c.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 | |
11 | g.77174857A>G | CA475794590 | MYO7A | c.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 | |
11 | g.77174857A>T | CA475794591 | MYO7A | c.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 | |
11 | g.77174858G>A | CA381939396 | MYO7A | c.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 | |
11 | g.77174858G>C | CA381939399 | MYO7A | c.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 | |
11 | g.77174858G>T | CA381939395 | MYO7A | c.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 | |
11 | g.77174859A= | CA1984113907 | MYO7A | c.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= | |
11 | g.77174859A>C | CA381939400 | MYO7A | c.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 | |
11 | g.77174859A>G | CA381939402 | MYO7A | c.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 |
11 | g.77174859A>T | CA381939403 | MYO7A | c.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 | |
11 | g.77174860G>A | CA475794592 | MYO7A | c.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 |
11 | g.77174860G>C | CA381939404 | MYO7A | c.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 | |
11 | g.77174860G= | CA1984113914 | MYO7A | c.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= | |
11 | g.77174860G>T | CA381939405 | MYO7A | c.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 | |
11 | g.77174861T>A | CA381939411 | MYO7A | c.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 | |
11 | g.77174861T>C | CA381939407 | MYO7A | c.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 | |
11 | g.77174861T>G | CA381939409 | MYO7A | c.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 |
11 | g.77174861T= | CA1984113921 | MYO7A | c.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= | |
11 | g.77174862T>A | CA381939412 | MYO7A | c.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 | |
11 | g.77174862T>C | CA381939413 | MYO7A | c.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 | |
11 | g.77174862T>G | CA381939415 | MYO7A | c.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 | |
11 | g.77174863T>A | CA381939417 | MYO7A | c.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 | |
11 | g.77174863T>C | CA475794593 | MYO7A | c.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 | |
11 | g.77174863T>G | CA381939419 | MYO7A | c.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 | |
11 | g.77174864G>A | CA381939423 | MYO7A | c.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 | |
11 | g.77174864G>C | CA381939422 | MYO7A | c.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 | |
11 | g.77174864G>T | CA381939420 | MYO7A | c.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 | |
11 | g.77174865T>A | CA381939425 | MYO7A | c.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 |
11 | g.77174865T>C | CA381939428 | MYO7A | c.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 | |
11 | g.77174865T>G | CA381939426 | MYO7A | c.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 |
11 | g.77174865T= | CA1984113924 | MYO7A | c.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= | |
11 | g.77174866G>A | CA475794594 | MYO7A | c.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 |
11 | g.77174866G>C | CA475794595 | MYO7A | c.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 | |
11 | g.77174866G= | CA1984113930 | MYO7A | c.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= | |
11 | g.77174866G>T | CA475794596 | MYO7A | c.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 | |
11 | g.77174867G>A | CA381939430 | MYO7A | c.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 | |
11 | g.77174867G>C | CA381939433 | MYO7A | c.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 | |
11 | g.77174867G>T | CA381939432 | MYO7A | c.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 | |
11 | g.77174868A= | CA1984113936 | MYO7A | c.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= | |
11 | g.77174868A>C | CA381939435 | MYO7A | c.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 | |
11 | g.77174868A>G | CA381939438 | MYO7A | c.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 |
11 | g.77174868A>T | CA381939436 | MYO7A | c.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 |
11 | g.77174869G>A | CA6197673 | MYO7A | c.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 |
11 | g.77174869G>C | CA381939440 | MYO7A | c.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 | |
11 | g.77174869G= | CA1984113943 | MYO7A | c.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= | |
11 | g.77174869G>T | CA381939442 | MYO7A | c.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 | |
11 | g.77174870C>A | CA475794597 | MYO7A | c.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 |
11 | g.77174870C= | CA1984113949 | MYO7A | c.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= | |
11 | g.77174870C>G | CA381939444 | MYO7A | c.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 | |
11 | g.77174870C>T | CA6197674 | MYO7A | c.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 |
11 | g.77174871G>A | CA6197675 | MYO7A | c.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 |
11 | g.77174871G>C | CA381939447 | MYO7A | c.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 |
11 | g.77174871G= | CA1984113954 | MYO7A | c.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= | |
11 | g.77174871G>T | CA381939448 | MYO7A | c.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 | |
11 | g.77174872G>A | CA475794598 | MYO7A | c.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 |
11 | g.77174872G>C | CA475794599 | MYO7A | c.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 | |
11 | g.77174872G>T | CA475794600 | MYO7A | c.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 | |
11 | g.77174873T>A | CA381939449 | MYO7A | c.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 | |
11 | g.77174873T>C | CA381939450 | MYO7A | c.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 | |
11 | g.77174873T>G | CA381939452 | MYO7A | c.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 |
11 | g.77174874A>C | CA381939454 | MYO7A | c.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 |
11 | g.77174874A>G | CA381939455 | MYO7A | c.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 | |
11 | g.77174874A>T | CA381939457 | MYO7A | c.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 | |
11 | g.77174875C>A | CA381939458 | MYO7A | c.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 | |
11 | g.77174875C>G | CA381939459 | MYO7A | c.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 | |
11 | g.77174875C>T | CA475794601 | MYO7A | c.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 | |
11 | g.77174876C>A | CA381939461 | MYO7A | c.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 | |
11 | g.77174876C= | CA1984113962 | MYO7A | c.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= | |
11 | g.77174876C>G | CA381939463 | MYO7A | c.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 | |
11 | g.77174876C>T | CA6197676 | MYO7A | c.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 |
11 | g.77174877G>A | CA6197677 | MYO7A | c.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 |
11 | g.77174877G>C | CA381939464 | MYO7A | c.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 |
11 | g.77174877G= | CA1984113973 | MYO7A | c.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= | |
11 | g.77174877G>T | CA381939466 | MYO7A | c.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 | |
11 | g.77174878T>A | CA475794602 | MYO7A | c.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 | |
11 | g.77174878T>C | CA475794603 | MYO7A | c.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 | |
11 | g.77174878T>G | CA475794604 | MYO7A | c.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 |
11 | g.77174878T= | CA1984113980 | MYO7A | c.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= | |
11 | g.77174879G>A | CA381939467 | MYO7A | c.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 |
11 | g.77174879G>C | CA381939469 | MYO7A | c.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 | |
11 | g.77174879G>T | CA381939470 | MYO7A | c.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 |