| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77174773G>A | CA475794529 | MYO7A | c.1953G>A (p.Leu651=) c.18G>A (p.Leu6=) c.1920G>A (p.Leu640=) c.1722G>A (p.Leu574=) c.1695G>A (p.Leu565=) n.2273G>A n.2275G>A c.2043G>A (p.Leu681=) c.1812G>A (p.Leu604=) n.2058G>A | ClinVar dbSNP |
| 11 | g.77174773G>C | CA475794528 | MYO7A | c.1953G>C (p.Leu651=) c.18G>C (p.Leu6=) c.1920G>C (p.Leu640=) c.1722G>C (p.Leu574=) c.1695G>C (p.Leu565=) n.2273G>C n.2275G>C c.2043G>C (p.Leu681=) c.1812G>C (p.Leu604=) n.2058G>C | |
| 11 | g.77174773G= | CA1984113534 | MYO7A | c.1953G= (p.Leu651=) c.18G= (p.Leu6=) c.1920G= (p.Leu640=) c.1722G= (p.Leu574=) c.1695G= (p.Leu565=) n.2273G= n.2275G= c.2043G= (p.Leu681=) c.1812G= (p.Leu604=) n.2058G= | |
| 11 | g.77174773G>T | CA475794527 | MYO7A | c.1953G>T (p.Leu651=) c.18G>T (p.Leu6=) c.1920G>T (p.Leu640=) c.1722G>T (p.Leu574=) c.1695G>T (p.Leu565=) n.2273G>T n.2275G>T c.2043G>T (p.Leu681=) c.1812G>T (p.Leu604=) n.2058G>T | |
| 11 | g.77174774del | CA2695215032 | MYO7A | c.1954del (p.Cys652AlafsTer10) c.19del (p.Cys7AlafsTer10) c.1921del (p.Cys641AlafsTer10) c.1723del (p.Cys575AlafsTer10) c.1696del (p.Cys566AlafsTer10) n.2274del n.2276del c.2044del (p.Cys682AlafsTer10) c.1813del (p.Cys605AlafsTer10) n.2059del | |
| 11 | g.77174774T>A | CA224837091 | MYO7A | c.1954T>A (p.Cys652Ser) c.19T>A (p.Cys7Ser) c.1921T>A (p.Cys641Ser) c.1723T>A (p.Cys575Ser) c.1696T>A (p.Cys566Ser) n.2274T>A n.2276T>A c.2044T>A (p.Cys682Ser) c.1813T>A (p.Cys605Ser) n.2059T>A | dbSNP |
| 11 | g.77174774T>C | CA381939133 | MYO7A | c.1954T>C (p.Cys652Arg) c.19T>C (p.Cys7Arg) c.1921T>C (p.Cys641Arg) c.1723T>C (p.Cys575Arg) c.1696T>C (p.Cys566Arg) n.2274T>C n.2276T>C c.2044T>C (p.Cys682Arg) c.1813T>C (p.Cys605Arg) n.2059T>C | ClinVar |
| 11 | g.77174774T>G | CA381939135 | MYO7A | c.1954T>G (p.Cys652Gly) c.19T>G (p.Cys7Gly) c.1921T>G (p.Cys641Gly) c.1723T>G (p.Cys575Gly) c.1696T>G (p.Cys566Gly) n.2274T>G n.2276T>G c.2044T>G (p.Cys682Gly) c.1813T>G (p.Cys605Gly) n.2059T>G | |
| 11 | g.77174774T= | CA1984113538 | MYO7A | c.1954T= (p.Cys652=) c.19T= (p.Cys7=) c.1921T= (p.Cys641=) c.1723T= (p.Cys575=) c.1696T= (p.Cys566=) n.2274T= n.2276T= c.2044T= (p.Cys682=) c.1813T= (p.Cys605=) n.2059T= | |
| 11 | g.77174775G>A | CA381939137 | MYO7A | c.1955G>A (p.Cys652Tyr) c.20G>A (p.Cys7Tyr) c.1922G>A (p.Cys641Tyr) c.1724G>A (p.Cys575Tyr) c.1697G>A (p.Cys566Tyr) n.2275G>A n.2277G>A c.2045G>A (p.Cys682Tyr) c.1814G>A (p.Cys605Tyr) n.2060G>A | dbSNP |
| 11 | g.77174775G>C | CA381939138 | MYO7A | c.1955G>C (p.Cys652Ser) c.20G>C (p.Cys7Ser) c.1922G>C (p.Cys641Ser) c.1724G>C (p.Cys575Ser) c.1697G>C (p.Cys566Ser) n.2275G>C n.2277G>C c.2045G>C (p.Cys682Ser) c.1814G>C (p.Cys605Ser) n.2060G>C | |
| 11 | g.77174775G= | CA1984113541 | MYO7A | c.1955G= (p.Cys652=) c.20G= (p.Cys7=) c.1922G= (p.Cys641=) c.1724G= (p.Cys575=) c.1697G= (p.Cys566=) n.2275G= n.2277G= c.2045G= (p.Cys682=) c.1814G= (p.Cys605=) n.2060G= | |
| 11 | g.77174775G>T | CA381939139 | MYO7A | c.1955G>T (p.Cys652Phe) c.20G>T (p.Cys7Phe) c.1922G>T (p.Cys641Phe) c.1724G>T (p.Cys575Phe) c.1697G>T (p.Cys566Phe) n.2275G>T n.2277G>T c.2045G>T (p.Cys682Phe) c.1814G>T (p.Cys605Phe) n.2060G>T | gnomAD v4 |
| 11 | g.77174776C>A | CA381939141 | MYO7A | c.1956C>A (p.Cys652Ter) c.21C>A (p.Cys7Ter) c.1923C>A (p.Cys641Ter) c.1725C>A (p.Cys575Ter) c.1698C>A (p.Cys566Ter) n.2276C>A n.2278C>A c.2046C>A (p.Cys682Ter) c.1815C>A (p.Cys605Ter) n.2061C>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77174776C= | CA1984113545 | MYO7A | c.1956C= (p.Cys652=) c.21C= (p.Cys7=) c.1923C= (p.Cys641=) c.1725C= (p.Cys575=) c.1698C= (p.Cys566=) n.2276C= n.2278C= c.2046C= (p.Cys682=) c.1815C= (p.Cys605=) n.2061C= | |
| 11 | g.77174776C>G | CA381939140 | MYO7A | c.1956C>G (p.Cys652Trp) c.21C>G (p.Cys7Trp) c.1923C>G (p.Cys641Trp) c.1725C>G (p.Cys575Trp) c.1698C>G (p.Cys566Trp) n.2276C>G n.2278C>G c.2046C>G (p.Cys682Trp) c.1815C>G (p.Cys605Trp) n.2061C>G | gnomAD v4 |
| 11 | g.77174776C>T | CA132229 | MYO7A | c.1956C>T (p.Cys652=) c.21C>T (p.Cys7=) c.1923C>T (p.Cys641=) c.1725C>T (p.Cys575=) c.1698C>T (p.Cys566=) n.2276C>T n.2278C>T c.2046C>T (p.Cys682=) c.1815C>T (p.Cys605=) n.2061C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77174777G>A | CA6197653 | MYO7A | c.1957G>A (p.Val653Met) c.22G>A (p.Val8Met) c.1924G>A (p.Val642Met) c.1726G>A (p.Val576Met) c.1699G>A (p.Val567Met) n.2277G>A n.2279G>A c.2047G>A (p.Val683Met) c.1816G>A (p.Val606Met) n.2062G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.77174777G>C | CA381939142 | MYO7A | c.1957G>C (p.Val653Leu) c.22G>C (p.Val8Leu) c.1924G>C (p.Val642Leu) c.1726G>C (p.Val576Leu) c.1699G>C (p.Val567Leu) n.2277G>C n.2279G>C c.2047G>C (p.Val683Leu) c.1816G>C (p.Val606Leu) n.2062G>C | |
| 11 | g.77174777G= | CA1984113552 | MYO7A | c.1957G= (p.Val653=) c.22G= (p.Val8=) c.1924G= (p.Val642=) c.1726G= (p.Val576=) c.1699G= (p.Val567=) n.2277G= n.2279G= c.2047G= (p.Val683=) c.1816G= (p.Val606=) n.2062G= | |
| 11 | g.77174777G>T | CA381939144 | MYO7A | c.1957G>T (p.Val653Leu) c.22G>T (p.Val8Leu) c.1924G>T (p.Val642Leu) c.1726G>T (p.Val576Leu) c.1699G>T (p.Val567Leu) n.2277G>T n.2279G>T c.2047G>T (p.Val683Leu) c.1816G>T (p.Val606Leu) n.2062G>T | |
| 11 | g.77174778T>A | CA224837094 | MYO7A | c.1958T>A (p.Val653Glu) c.23T>A (p.Val8Glu) c.1925T>A (p.Val642Glu) c.1727T>A (p.Val576Glu) c.1700T>A (p.Val567Glu) n.2278T>A n.2280T>A c.2048T>A (p.Val683Glu) c.1817T>A (p.Val606Glu) n.2063T>A | dbSNP |
| 11 | g.77174778T>C | CA381939146 | MYO7A | c.1958T>C (p.Val653Ala) c.23T>C (p.Val8Ala) c.1925T>C (p.Val642Ala) c.1727T>C (p.Val576Ala) c.1700T>C (p.Val567Ala) n.2278T>C n.2280T>C c.2048T>C (p.Val683Ala) c.1817T>C (p.Val606Ala) n.2063T>C | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77174778T>G | CA381939148 | MYO7A | c.1958T>G (p.Val653Gly) c.23T>G (p.Val8Gly) c.1925T>G (p.Val642Gly) c.1727T>G (p.Val576Gly) c.1700T>G (p.Val567Gly) n.2278T>G n.2280T>G c.2048T>G (p.Val683Gly) c.1817T>G (p.Val606Gly) n.2063T>G | |
| 11 | g.77174778T= | CA1984113561 | MYO7A | c.1958T= (p.Val653=) c.23T= (p.Val8=) c.1925T= (p.Val642=) c.1727T= (p.Val576=) c.1700T= (p.Val567=) n.2278T= n.2280T= c.2048T= (p.Val683=) c.1817T= (p.Val606=) n.2063T= | |
| 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 |