Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
11 | g.77174880T>A | CA381939471 | MYO7A | c.2060T>A (p.Val687Glu) c.125T>A (p.Val42Glu) c.2027T>A (p.Val676Glu) c.1829T>A (p.Val610Glu) c.1802T>A (p.Val601Glu) n.2380T>A n.2382T>A c.2150T>A (p.Val717Glu) c.1919T>A (p.Val640Glu) n.2165T>A | |
11 | g.77174880T>C | CA381939472 | MYO7A | c.2060T>C (p.Val687Ala) c.125T>C (p.Val42Ala) c.2027T>C (p.Val676Ala) c.1829T>C (p.Val610Ala) c.1802T>C (p.Val601Ala) n.2380T>C n.2382T>C c.2150T>C (p.Val717Ala) c.1919T>C (p.Val640Ala) n.2165T>C | gnomAD v4 |
11 | g.77174880T>G | CA381939473 | MYO7A | c.2060T>G (p.Val687Gly) c.125T>G (p.Val42Gly) c.2027T>G (p.Val676Gly) c.1829T>G (p.Val610Gly) c.1802T>G (p.Val601Gly) n.2380T>G n.2382T>G c.2150T>G (p.Val717Gly) c.1919T>G (p.Val640Gly) n.2165T>G | |
11 | g.77174886_77174888dup | CA2792769266 | MYO7A | c.2066_2068dup (p.Leu689_Pro690insLeu) c.131_133dup (p.Leu44_Pro45insLeu) c.2033_2035dup (p.Leu678_Pro679insLeu) c.1835_1837dup (p.Leu612_Pro613insLeu) c.1808_1810dup (p.Leu603_Pro604insLeu) n.2386_2388dup n.2388_2390dup c.2156_2158dup (p.Leu719_Pro720insLeu) c.1925_1927dup (p.Leu642_Pro643insLeu) n.2171_2173dup | |
11 | g.77174881G>A | CA475794605 | MYO7A | c.2061G>A (p.Val687=) c.126G>A (p.Val42=) c.2028G>A (p.Val676=) c.1830G>A (p.Val610=) c.1803G>A (p.Val601=) n.2381G>A n.2383G>A c.2151G>A (p.Val717=) c.1920G>A (p.Val640=) n.2166G>A | gnomAD v4 |
11 | g.77174881G>C | CA475794606 | MYO7A | c.2061G>C (p.Val687=) c.126G>C (p.Val42=) c.2028G>C (p.Val676=) c.1830G>C (p.Val610=) c.1803G>C (p.Val601=) n.2381G>C n.2383G>C c.2151G>C (p.Val717=) c.1920G>C (p.Val640=) n.2166G>C | |
11 | g.77174881G>T | CA475794607 | MYO7A | c.2061G>T (p.Val687=) c.126G>T (p.Val42=) c.2028G>T (p.Val676=) c.1830G>T (p.Val610=) c.1803G>T (p.Val601=) n.2381G>T n.2383G>T c.2151G>T (p.Val717=) c.1920G>T (p.Val640=) n.2166G>T | |
11 | g.77174882C>A | CA381939475 | MYO7A | c.2062C>A (p.Leu688Met) c.127C>A (p.Leu43Met) c.2029C>A (p.Leu677Met) c.1831C>A (p.Leu611Met) c.1804C>A (p.Leu602Met) n.2382C>A n.2384C>A c.2152C>A (p.Leu718Met) c.1921C>A (p.Leu641Met) n.2167C>A | |
11 | g.77174882C>G | CA381939477 | MYO7A | c.2062C>G (p.Leu688Val) c.127C>G (p.Leu43Val) c.2029C>G (p.Leu677Val) c.1831C>G (p.Leu611Val) c.1804C>G (p.Leu602Val) n.2382C>G n.2384C>G c.2152C>G (p.Leu718Val) c.1921C>G (p.Leu641Val) n.2167C>G | |
11 | g.77174882C>T | CA475794608 | MYO7A | c.2062C>T (p.Leu688=) c.127C>T (p.Leu43=) c.2029C>T (p.Leu677=) c.1831C>T (p.Leu611=) c.1804C>T (p.Leu602=) n.2382C>T n.2384C>T c.2152C>T (p.Leu718=) c.1921C>T (p.Leu641=) n.2167C>T | gnomAD v4 |
11 | g.77174883T>A | CA381939478 | MYO7A | c.2063T>A (p.Leu688Gln) c.128T>A (p.Leu43Gln) c.2030T>A (p.Leu677Gln) c.1832T>A (p.Leu611Gln) c.1805T>A (p.Leu602Gln) n.2383T>A n.2385T>A c.2153T>A (p.Leu718Gln) c.1922T>A (p.Leu641Gln) n.2168T>A | |
11 | g.77174883T>C | CA6197678 | MYO7A | c.2063T>C (p.Leu688Pro) c.128T>C (p.Leu43Pro) c.2030T>C (p.Leu677Pro) c.1832T>C (p.Leu611Pro) c.1805T>C (p.Leu602Pro) n.2383T>C n.2385T>C c.2153T>C (p.Leu718Pro) c.1922T>C (p.Leu641Pro) n.2168T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77174883T>G | CA381939480 | MYO7A | c.2063T>G (p.Leu688Arg) c.128T>G (p.Leu43Arg) c.2030T>G (p.Leu677Arg) c.1832T>G (p.Leu611Arg) c.1805T>G (p.Leu602Arg) n.2383T>G n.2385T>G c.2153T>G (p.Leu718Arg) c.1922T>G (p.Leu641Arg) n.2168T>G | |
11 | g.77174883T= | CA1984113983 | MYO7A | c.2063T= (p.Leu688=) c.128T= (p.Leu43=) c.2030T= (p.Leu677=) c.1832T= (p.Leu611=) c.1805T= (p.Leu602=) n.2383T= n.2385T= c.2153T= (p.Leu718=) c.1922T= (p.Leu641=) n.2168T= | |
11 | g.77174884G>A | CA475794609 | MYO7A | c.2064G>A (p.Leu688=) c.129G>A (p.Leu43=) c.2031G>A (p.Leu677=) c.1833G>A (p.Leu611=) c.1806G>A (p.Leu602=) n.2384G>A n.2386G>A c.2154G>A (p.Leu718=) c.1923G>A (p.Leu641=) n.2169G>A | dbSNP |
11 | g.77174884G>C | CA475794610 | MYO7A | c.2064G>C (p.Leu688=) c.129G>C (p.Leu43=) c.2031G>C (p.Leu677=) c.1833G>C (p.Leu611=) c.1806G>C (p.Leu602=) n.2384G>C n.2386G>C c.2154G>C (p.Leu718=) c.1923G>C (p.Leu641=) n.2169G>C | |
11 | g.77174884G= | CA1984113986 | MYO7A | c.2064G= (p.Leu688=) c.129G= (p.Leu43=) c.2031G= (p.Leu677=) c.1833G= (p.Leu611=) c.1806G= (p.Leu602=) n.2384G= n.2386G= c.2154G= (p.Leu718=) c.1923G= (p.Leu641=) n.2169G= | |
11 | g.77174884G>T | CA475794611 | MYO7A | c.2064G>T (p.Leu688=) c.129G>T (p.Leu43=) c.2031G>T (p.Leu677=) c.1833G>T (p.Leu611=) c.1806G>T (p.Leu602=) n.2384G>T n.2386G>T c.2154G>T (p.Leu718=) c.1923G>T (p.Leu641=) n.2169G>T | |
11 | g.77174885C>A | CA381939481 | MYO7A | c.2065C>A (p.Leu689Met) c.130C>A (p.Leu44Met) c.2032C>A (p.Leu678Met) c.1834C>A (p.Leu612Met) c.1807C>A (p.Leu603Met) n.2385C>A n.2387C>A c.2155C>A (p.Leu719Met) c.1924C>A (p.Leu642Met) n.2170C>A | |
11 | g.77174885C>G | CA381939483 | MYO7A | c.2065C>G (p.Leu689Val) c.130C>G (p.Leu44Val) c.2032C>G (p.Leu678Val) c.1834C>G (p.Leu612Val) c.1807C>G (p.Leu603Val) n.2385C>G n.2387C>G c.2155C>G (p.Leu719Val) c.1924C>G (p.Leu642Val) n.2170C>G | |
11 | g.77174885C>T | CA475794612 | MYO7A | c.2065C>T (p.Leu689=) c.130C>T (p.Leu44=) c.2032C>T (p.Leu678=) c.1834C>T (p.Leu612=) c.1807C>T (p.Leu603=) n.2385C>T n.2387C>T c.2155C>T (p.Leu719=) c.1924C>T (p.Leu642=) n.2170C>T | |
11 | g.77174886T>A | CA381939485 | MYO7A | c.2066T>A (p.Leu689Gln) c.131T>A (p.Leu44Gln) c.2033T>A (p.Leu678Gln) c.1835T>A (p.Leu612Gln) c.1808T>A (p.Leu603Gln) n.2386T>A n.2388T>A c.2156T>A (p.Leu719Gln) c.1925T>A (p.Leu642Gln) n.2171T>A | |
11 | g.77174886T>C | CA381939486 | MYO7A | c.2066T>C (p.Leu689Pro) c.131T>C (p.Leu44Pro) c.2033T>C (p.Leu678Pro) c.1835T>C (p.Leu612Pro) c.1808T>C (p.Leu603Pro) n.2386T>C n.2388T>C c.2156T>C (p.Leu719Pro) c.1925T>C (p.Leu642Pro) n.2171T>C | |
11 | g.77174886T>G | CA381939487 | MYO7A | c.2066T>G (p.Leu689Arg) c.131T>G (p.Leu44Arg) c.2033T>G (p.Leu678Arg) c.1835T>G (p.Leu612Arg) c.1808T>G (p.Leu603Arg) n.2386T>G n.2388T>G c.2156T>G (p.Leu719Arg) c.1925T>G (p.Leu642Arg) n.2171T>G | |
11 | g.77174887G>A | CA475794613 | MYO7A | c.2067G>A (p.Leu689=) c.132G>A (p.Leu44=) c.2034G>A (p.Leu678=) c.1836G>A (p.Leu612=) c.1809G>A (p.Leu603=) n.2387G>A n.2389G>A c.2157G>A (p.Leu719=) c.1926G>A (p.Leu642=) n.2172G>A | |
11 | g.77174887G>C | CA475794614 | MYO7A | c.2067G>C (p.Leu689=) c.132G>C (p.Leu44=) c.2034G>C (p.Leu678=) c.1836G>C (p.Leu612=) c.1809G>C (p.Leu603=) n.2387G>C n.2389G>C c.2157G>C (p.Leu719=) c.1926G>C (p.Leu642=) n.2172G>C | |
11 | g.77174887G>T | CA475794615 | MYO7A | c.2067G>T (p.Leu689=) c.132G>T (p.Leu44=) c.2034G>T (p.Leu678=) c.1836G>T (p.Leu612=) c.1809G>T (p.Leu603=) n.2387G>T n.2389G>T c.2157G>T (p.Leu719=) c.1926G>T (p.Leu642=) n.2172G>T | |
11 | g.77174888C>A | CA381939489 | MYO7A | c.2068C>A (p.Pro690Thr) c.133C>A (p.Pro45Thr) c.2035C>A (p.Pro679Thr) c.1837C>A (p.Pro613Thr) c.1810C>A (p.Pro604Thr) n.2388C>A n.2390C>A c.2158C>A (p.Pro720Thr) c.1927C>A (p.Pro643Thr) n.2173C>A | |
11 | g.77174888C>G | CA381939491 | MYO7A | c.2068C>G (p.Pro690Ala) c.133C>G (p.Pro45Ala) c.2035C>G (p.Pro679Ala) c.1837C>G (p.Pro613Ala) c.1810C>G (p.Pro604Ala) n.2388C>G n.2390C>G c.2158C>G (p.Pro720Ala) c.1927C>G (p.Pro643Ala) n.2173C>G | |
11 | g.77174888C>T | CA381939493 | MYO7A | c.2068C>T (p.Pro690Ser) c.133C>T (p.Pro45Ser) c.2035C>T (p.Pro679Ser) c.1837C>T (p.Pro613Ser) c.1810C>T (p.Pro604Ser) n.2388C>T n.2390C>T c.2158C>T (p.Pro720Ser) c.1927C>T (p.Pro643Ser) n.2173C>T | |
11 | g.77174889C>A | CA381939495 | MYO7A | c.2069C>A (p.Pro690Gln) c.134C>A (p.Pro45Gln) c.2036C>A (p.Pro679Gln) c.1838C>A (p.Pro613Gln) c.1811C>A (p.Pro604Gln) n.2389C>A n.2391C>A c.2159C>A (p.Pro720Gln) c.1928C>A (p.Pro643Gln) n.2174C>A | |
11 | g.77174889C>G | CA381939496 | MYO7A | c.2069C>G (p.Pro690Arg) c.134C>G (p.Pro45Arg) c.2036C>G (p.Pro679Arg) c.1838C>G (p.Pro613Arg) c.1811C>G (p.Pro604Arg) n.2389C>G n.2391C>G c.2159C>G (p.Pro720Arg) c.1928C>G (p.Pro643Arg) n.2174C>G | |
11 | g.77174889C>T | CA381939498 | MYO7A | c.2069C>T (p.Pro690Leu) c.134C>T (p.Pro45Leu) c.2036C>T (p.Pro679Leu) c.1838C>T (p.Pro613Leu) c.1811C>T (p.Pro604Leu) n.2389C>T n.2391C>T c.2159C>T (p.Pro720Leu) c.1928C>T (p.Pro643Leu) n.2174C>T | |
11 | g.77174890A>C | CA475794617 | MYO7A | c.2070A>C (p.Pro690=) c.135A>C (p.Pro45=) c.2037A>C (p.Pro679=) c.1839A>C (p.Pro613=) c.1812A>C (p.Pro604=) n.2390A>C n.2392A>C c.2160A>C (p.Pro720=) c.1929A>C (p.Pro643=) n.2175A>C | |
11 | g.77174890A>G | CA475794618 | MYO7A | c.2070A>G (p.Pro690=) c.135A>G (p.Pro45=) c.2037A>G (p.Pro679=) c.1839A>G (p.Pro613=) c.1812A>G (p.Pro604=) n.2390A>G n.2392A>G c.2160A>G (p.Pro720=) c.1929A>G (p.Pro643=) n.2175A>G | |
11 | g.77174890A>T | CA475794616 | MYO7A | c.2070A>T (p.Pro690=) c.135A>T (p.Pro45=) c.2037A>T (p.Pro679=) c.1839A>T (p.Pro613=) c.1812A>T (p.Pro604=) n.2390A>T n.2392A>T c.2160A>T (p.Pro720=) c.1929A>T (p.Pro643=) n.2175A>T | ClinVar |
11 | g.77174890dup | CA2697548837 | MYO7A | c.2070dup (p.Gly691ArgfsTer20) c.135dup (p.Gly46ArgfsTer20) c.2037dup (p.Gly680ArgfsTer20) c.1839dup (p.Gly614ArgfsTer20) c.1812dup (p.Gly605ArgfsTer20) n.2390dup n.2392dup c.2160dup (p.Gly721ArgfsTer20) c.1929dup (p.Gly644ArgfsTer20) n.2175dup | ClinVar |
11 | g.77174891G>A | CA381939503 | MYO7A | c.2071G>A (p.Gly691Ser) c.136G>A (p.Gly46Ser) c.2038G>A (p.Gly680Ser) c.1840G>A (p.Gly614Ser) c.1813G>A (p.Gly605Ser) n.2391G>A n.2393G>A c.2161G>A (p.Gly721Ser) c.1930G>A (p.Gly644Ser) n.2176G>A | |
11 | g.77174891G>C | CA381939501 | MYO7A | c.2071G>C (p.Gly691Arg) c.136G>C (p.Gly46Arg) c.2038G>C (p.Gly680Arg) c.1840G>C (p.Gly614Arg) c.1813G>C (p.Gly605Arg) n.2391G>C n.2393G>C c.2161G>C (p.Gly721Arg) c.1930G>C (p.Gly644Arg) n.2176G>C | |
11 | g.77174891G>T | CA381939499 | MYO7A | c.2071G>T (p.Gly691Cys) c.136G>T (p.Gly46Cys) c.2038G>T (p.Gly680Cys) c.1840G>T (p.Gly614Cys) c.1813G>T (p.Gly605Cys) n.2391G>T n.2393G>T c.2161G>T (p.Gly721Cys) c.1930G>T (p.Gly644Cys) n.2176G>T | |
11 | g.77174892G>A | CA381939505 | MYO7A | c.2072G>A (p.Gly691Asp) c.137G>A (p.Gly46Asp) c.2039G>A (p.Gly680Asp) c.1841G>A (p.Gly614Asp) c.1814G>A (p.Gly605Asp) n.2392G>A n.2394G>A c.2162G>A (p.Gly721Asp) c.1931G>A (p.Gly644Asp) n.2177G>A | |
11 | g.77174892G>C | CA381939507 | MYO7A | c.2072G>C (p.Gly691Ala) c.137G>C (p.Gly46Ala) c.2039G>C (p.Gly680Ala) c.1841G>C (p.Gly614Ala) c.1814G>C (p.Gly605Ala) n.2392G>C n.2394G>C c.2162G>C (p.Gly721Ala) c.1931G>C (p.Gly644Ala) n.2177G>C | |
11 | g.77174892G>T | CA381939508 | MYO7A | c.2072G>T (p.Gly691Val) c.137G>T (p.Gly46Val) c.2039G>T (p.Gly680Val) c.1841G>T (p.Gly614Val) c.1814G>T (p.Gly605Val) n.2392G>T n.2394G>T c.2162G>T (p.Gly721Val) c.1931G>T (p.Gly644Val) n.2177G>T | |
11 | g.77174895_77174896del | CA2739270694 | MYO7A | c.2075_2076del (p.Val692GlufsTer18) c.140_141del (p.Val47GlufsTer18) c.2042_2043del (p.Val681GlufsTer18) c.1844_1845del (p.Val615GlufsTer18) c.1817_1818del (p.Val606GlufsTer18) n.2395_2396del n.2397_2398del c.2165_2166del (p.Val722GlufsTer18) c.1934_1935del (p.Val645GlufsTer18) n.2180_2181del | ClinVar |
11 | g.77174893T>A | CA475794619 | MYO7A | c.2073T>A (p.Gly691=) c.138T>A (p.Gly46=) c.2040T>A (p.Gly680=) c.1842T>A (p.Gly614=) c.1815T>A (p.Gly605=) n.2393T>A n.2395T>A c.2163T>A (p.Gly721=) c.1932T>A (p.Gly644=) n.2178T>A | |
11 | g.77174893T>C | CA475794621 | MYO7A | c.2073T>C (p.Gly691=) c.138T>C (p.Gly46=) c.2040T>C (p.Gly680=) c.1842T>C (p.Gly614=) c.1815T>C (p.Gly605=) n.2393T>C n.2395T>C c.2163T>C (p.Gly721=) c.1932T>C (p.Gly644=) n.2178T>C | gnomAD v4 |
11 | g.77174893T>G | CA475794620 | MYO7A | c.2073T>G (p.Gly691=) c.138T>G (p.Gly46=) c.2040T>G (p.Gly680=) c.1842T>G (p.Gly614=) c.1815T>G (p.Gly605=) n.2393T>G n.2395T>G c.2163T>G (p.Gly721=) c.1932T>G (p.Gly644=) n.2178T>G | dbSNP |
11 | g.77174893T= | CA1984113987 | MYO7A | c.2073T= (p.Gly691=) c.138T= (p.Gly46=) c.2040T= (p.Gly680=) c.1842T= (p.Gly614=) c.1815T= (p.Gly605=) n.2393T= n.2395T= c.2163T= (p.Gly721=) c.1932T= (p.Gly644=) n.2178T= | |
11 | g.77174894G>A | CA381939510 | MYO7A | c.2074G>A (p.Val692Met) c.139G>A (p.Val47Met) c.2041G>A (p.Val681Met) c.1843G>A (p.Val615Met) c.1816G>A (p.Val606Met) n.2394G>A n.2396G>A c.2164G>A (p.Val722Met) c.1933G>A (p.Val645Met) n.2179G>A | |
11 | g.77174894G>C | CA381939511 | MYO7A | c.2074G>C (p.Val692Leu) c.139G>C (p.Val47Leu) c.2041G>C (p.Val681Leu) c.1843G>C (p.Val615Leu) c.1816G>C (p.Val606Leu) n.2394G>C n.2396G>C c.2164G>C (p.Val722Leu) c.1933G>C (p.Val645Leu) n.2179G>C | |
11 | g.77174894G>T | CA381939513 | MYO7A | c.2074G>T (p.Val692Leu) c.139G>T (p.Val47Leu) c.2041G>T (p.Val681Leu) c.1843G>T (p.Val615Leu) c.1816G>T (p.Val606Leu) n.2394G>T n.2396G>T c.2164G>T (p.Val722Leu) c.1933G>T (p.Val645Leu) n.2179G>T | |
11 | g.77174895T>A | CA381939515 | MYO7A | c.2075T>A (p.Val692Glu) c.140T>A (p.Val47Glu) c.2042T>A (p.Val681Glu) c.1844T>A (p.Val615Glu) c.1817T>A (p.Val606Glu) n.2395T>A n.2397T>A c.2165T>A (p.Val722Glu) c.1934T>A (p.Val645Glu) n.2180T>A | |
11 | g.77174895T>C | CA381939517 | MYO7A | c.2075T>C (p.Val692Ala) c.140T>C (p.Val47Ala) c.2042T>C (p.Val681Ala) c.1844T>C (p.Val615Ala) c.1817T>C (p.Val606Ala) n.2395T>C n.2397T>C c.2165T>C (p.Val722Ala) c.1934T>C (p.Val645Ala) n.2180T>C | |
11 | g.77174895T>G | CA381939519 | MYO7A | c.2075T>G (p.Val692Gly) c.140T>G (p.Val47Gly) c.2042T>G (p.Val681Gly) c.1844T>G (p.Val615Gly) c.1817T>G (p.Val606Gly) n.2395T>G n.2397T>G c.2165T>G (p.Val722Gly) c.1934T>G (p.Val645Gly) n.2180T>G | |
11 | g.77174896G>A | CA224837189 | MYO7A | c.2076G>A (p.Val692=) c.141G>A (p.Val47=) c.2043G>A (p.Val681=) c.1845G>A (p.Val615=) c.1818G>A (p.Val606=) n.2396G>A n.2398G>A c.2166G>A (p.Val722=) c.1935G>A (p.Val645=) n.2181G>A | ClinVar dbSNP gnomAD v4 |
11 | g.77174896G>C | CA475794622 | MYO7A | c.2076G>C (p.Val692=) c.141G>C (p.Val47=) c.2043G>C (p.Val681=) c.1845G>C (p.Val615=) c.1818G>C (p.Val606=) n.2396G>C n.2398G>C c.2166G>C (p.Val722=) c.1935G>C (p.Val645=) n.2181G>C | |
11 | g.77174896G= | CA1984113991 | MYO7A | c.2076G= (p.Val692=) c.141G= (p.Val47=) c.2043G= (p.Val681=) c.1845G= (p.Val615=) c.1818G= (p.Val606=) n.2396G= n.2398G= c.2166G= (p.Val722=) c.1935G= (p.Val645=) n.2181G= | |
11 | g.77174896G>T | CA475794623 | MYO7A | c.2076G>T (p.Val692=) c.141G>T (p.Val47=) c.2043G>T (p.Val681=) c.1845G>T (p.Val615=) c.1818G>T (p.Val606=) n.2396G>T n.2398G>T c.2166G>T (p.Val722=) c.1935G>T (p.Val645=) n.2181G>T | |
11 | g.77174897A>C | CA381939521 | MYO7A | c.2077A>C (p.Lys693Gln) c.142A>C (p.Lys48Gln) c.2044A>C (p.Lys682Gln) c.1846A>C (p.Lys616Gln) c.1819A>C (p.Lys607Gln) n.2397A>C n.2399A>C c.2167A>C (p.Lys723Gln) c.1936A>C (p.Lys646Gln) n.2182A>C | |
11 | g.77174897A>G | CA381939522 | MYO7A | c.2077A>G (p.Lys693Glu) c.142A>G (p.Lys48Glu) c.2044A>G (p.Lys682Glu) c.1846A>G (p.Lys616Glu) c.1819A>G (p.Lys607Glu) n.2397A>G n.2399A>G c.2167A>G (p.Lys723Glu) c.1936A>G (p.Lys646Glu) n.2182A>G | |
11 | g.77174897A>T | CA381939523 | MYO7A | c.2077A>T (p.Lys693Ter) c.142A>T (p.Lys48Ter) c.2044A>T (p.Lys682Ter) c.1846A>T (p.Lys616Ter) c.1819A>T (p.Lys607Ter) n.2397A>T n.2399A>T c.2167A>T (p.Lys723Ter) c.1936A>T (p.Lys646Ter) n.2182A>T | |
11 | g.77174897_77174898delinsT | CA2580084925 | MYO7A | c.2077_2078delinsT (p.Lys693CysfsTer29) c.142_143delinsT (p.Lys48CysfsTer29) c.2044_2045delinsT (p.Lys682CysfsTer29) c.1846_1847delinsT (p.Lys616CysfsTer29) c.1819_1820delinsT (p.Lys607CysfsTer29) n.2397_2398delinsT n.2399_2400delinsT c.2167_2168delinsT (p.Lys723CysfsTer29) c.1936_1937delinsT (p.Lys646CysfsTer29) n.2182_2183delinsT | ClinVar |
11 | g.77174898del | CA2615250181 | MYO7A | c.2078del (p.Lys693SerfsTer29) c.143del (p.Lys48SerfsTer29) c.2045del (p.Lys682SerfsTer29) c.1847del (p.Lys616SerfsTer29) c.1820del (p.Lys607SerfsTer29) n.2398del n.2400del c.2168del (p.Lys723SerfsTer29) c.1937del (p.Lys646SerfsTer29) n.2183del | gnomAD v4 |
11 | g.77174898A>C | CA381939525 | MYO7A | c.2078A>C (p.Lys693Thr) c.143A>C (p.Lys48Thr) c.2045A>C (p.Lys682Thr) c.1847A>C (p.Lys616Thr) c.1820A>C (p.Lys607Thr) n.2398A>C n.2400A>C c.2168A>C (p.Lys723Thr) c.1937A>C (p.Lys646Thr) n.2183A>C | |
11 | g.77174898A>G | CA381939529 | MYO7A | c.2078A>G (p.Lys693Arg) c.143A>G (p.Lys48Arg) c.2045A>G (p.Lys682Arg) c.1847A>G (p.Lys616Arg) c.1820A>G (p.Lys607Arg) n.2398A>G n.2400A>G c.2168A>G (p.Lys723Arg) c.1937A>G (p.Lys646Arg) n.2183A>G | |
11 | g.77174898A>T | CA381939527 | MYO7A | c.2078A>T (p.Lys693Met) c.143A>T (p.Lys48Met) c.2045A>T (p.Lys682Met) c.1847A>T (p.Lys616Met) c.1820A>T (p.Lys607Met) n.2398A>T n.2400A>T c.2168A>T (p.Lys723Met) c.1937A>T (p.Lys646Met) n.2183A>T | |
11 | g.77174899G>A | CA475794624 | MYO7A | c.2079G>A (p.Lys693=) c.144G>A (p.Lys48=) c.2046G>A (p.Lys682=) c.1848G>A (p.Lys616=) c.1821G>A (p.Lys607=) n.2399G>A n.2401G>A c.2169G>A (p.Lys723=) c.1938G>A (p.Lys646=) n.2184G>A | |
11 | g.77174899G>C | CA381939531 | MYO7A | c.2079G>C (p.Lys693Asn) c.144G>C (p.Lys48Asn) c.2046G>C (p.Lys682Asn) c.1848G>C (p.Lys616Asn) c.1821G>C (p.Lys607Asn) n.2399G>C n.2401G>C c.2169G>C (p.Lys723Asn) c.1938G>C (p.Lys646Asn) n.2184G>C | gnomAD v4 |
11 | g.77174899G>T | CA381939532 | MYO7A | c.2079G>T (p.Lys693Asn) c.144G>T (p.Lys48Asn) c.2046G>T (p.Lys682Asn) c.1848G>T (p.Lys616Asn) c.1821G>T (p.Lys607Asn) n.2399G>T n.2401G>T c.2169G>T (p.Lys723Asn) c.1938G>T (p.Lys646Asn) n.2184G>T | |
11 | g.77174900C>A | CA381939534 | MYO7A | c.2080C>A (p.Pro694Thr) c.145C>A (p.Pro49Thr) c.2047C>A (p.Pro683Thr) c.1849C>A (p.Pro617Thr) c.1822C>A (p.Pro608Thr) n.2400C>A n.2402C>A c.2170C>A (p.Pro724Thr) c.1939C>A (p.Pro647Thr) n.2185C>A | ClinVar dbSNP |
11 | g.77174900C>G | CA381939535 | MYO7A | c.2080C>G (p.Pro694Ala) c.145C>G (p.Pro49Ala) c.2047C>G (p.Pro683Ala) c.1849C>G (p.Pro617Ala) c.1822C>G (p.Pro608Ala) n.2400C>G n.2402C>G c.2170C>G (p.Pro724Ala) c.1939C>G (p.Pro647Ala) n.2185C>G | |
11 | g.77174900C>T | CA381939537 | MYO7A | c.2080C>T (p.Pro694Ser) c.145C>T (p.Pro49Ser) c.2047C>T (p.Pro683Ser) c.1849C>T (p.Pro617Ser) c.1822C>T (p.Pro608Ser) n.2400C>T n.2402C>T c.2170C>T (p.Pro724Ser) c.1939C>T (p.Pro647Ser) n.2185C>T | |
11 | g.77174901C>A | CA381939539 | MYO7A | c.2081C>A (p.Pro694Gln) c.146C>A (p.Pro49Gln) c.2048C>A (p.Pro683Gln) c.1850C>A (p.Pro617Gln) c.1823C>A (p.Pro608Gln) n.2401C>A n.2403C>A c.2171C>A (p.Pro724Gln) c.1940C>A (p.Pro647Gln) n.2186C>A | |
11 | g.77174901C= | CA1984113997 | MYO7A | c.2081C= (p.Pro694=) c.146C= (p.Pro49=) c.2048C= (p.Pro683=) c.1850C= (p.Pro617=) c.1823C= (p.Pro608=) n.2401C= n.2403C= c.2171C= (p.Pro724=) c.1940C= (p.Pro647=) n.2186C= | |
11 | g.77174901C>G | CA381939541 | MYO7A | c.2081C>G (p.Pro694Arg) c.146C>G (p.Pro49Arg) c.2048C>G (p.Pro683Arg) c.1850C>G (p.Pro617Arg) c.1823C>G (p.Pro608Arg) n.2401C>G n.2403C>G c.2171C>G (p.Pro724Arg) c.1940C>G (p.Pro647Arg) n.2186C>G | |
11 | g.77174901C>T | CA6197679 | MYO7A | c.2081C>T (p.Pro694Leu) c.146C>T (p.Pro49Leu) c.2048C>T (p.Pro683Leu) c.1850C>T (p.Pro617Leu) c.1823C>T (p.Pro608Leu) n.2401C>T n.2403C>T c.2171C>T (p.Pro724Leu) c.1940C>T (p.Pro647Leu) n.2186C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77174902G>A | CA6197681 | MYO7A | c.2082G>A (p.Pro694=) c.147G>A (p.Pro49=) c.2049G>A (p.Pro683=) c.1851G>A (p.Pro617=) c.1824G>A (p.Pro608=) n.2402G>A n.2404G>A c.2172G>A (p.Pro724=) c.1941G>A (p.Pro647=) n.2187G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77174902G>C | CA6197680 | MYO7A | c.2082G>C (p.Pro694=) c.147G>C (p.Pro49=) c.2049G>C (p.Pro683=) c.1851G>C (p.Pro617=) c.1824G>C (p.Pro608=) n.2402G>C n.2404G>C c.2172G>C (p.Pro724=) c.1941G>C (p.Pro647=) n.2187G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77174902G= | CA1984114004 | MYO7A | c.2082G= (p.Pro694=) c.147G= (p.Pro49=) c.2049G= (p.Pro683=) c.1851G= (p.Pro617=) c.1824G= (p.Pro608=) n.2402G= n.2404G= c.2172G= (p.Pro724=) c.1941G= (p.Pro647=) n.2187G= | |
11 | g.77174902G>T | CA475794625 | MYO7A | c.2082G>T (p.Pro694=) c.147G>T (p.Pro49=) c.2049G>T (p.Pro683=) c.1851G>T (p.Pro617=) c.1824G>T (p.Pro608=) n.2402G>T n.2404G>T c.2172G>T (p.Pro724=) c.1941G>T (p.Pro647=) n.2187G>T | |
11 | g.77174903G>A | CA381939545 | MYO7A | c.2083G>A (p.Ala695Thr) c.148G>A (p.Ala50Thr) c.2050G>A (p.Ala684Thr) c.1852G>A (p.Ala618Thr) c.1825G>A (p.Ala609Thr) n.2403G>A n.2405G>A c.2173G>A (p.Ala725Thr) c.1942G>A (p.Ala648Thr) n.2188G>A | ClinVar dbSNP |
11 | g.77174903G>C | CA381939547 | MYO7A | c.2083G>C (p.Ala695Pro) c.148G>C (p.Ala50Pro) c.2050G>C (p.Ala684Pro) c.1852G>C (p.Ala618Pro) c.1825G>C (p.Ala609Pro) n.2403G>C n.2405G>C c.2173G>C (p.Ala725Pro) c.1942G>C (p.Ala648Pro) n.2188G>C | |
11 | g.77174903G= | CA1984114008 | MYO7A | c.2083G= (p.Ala695=) c.148G= (p.Ala50=) c.2050G= (p.Ala684=) c.1852G= (p.Ala618=) c.1825G= (p.Ala609=) n.2403G= n.2405G= c.2173G= (p.Ala725=) c.1942G= (p.Ala648=) n.2188G= | |
11 | g.77174903G>T | CA381939548 | MYO7A | c.2083G>T (p.Ala695Ser) c.148G>T (p.Ala50Ser) c.2050G>T (p.Ala684Ser) c.1852G>T (p.Ala618Ser) c.1825G>T (p.Ala609Ser) n.2403G>T n.2405G>T c.2173G>T (p.Ala725Ser) c.1942G>T (p.Ala648Ser) n.2188G>T | |
11 | g.77174904C>A | CA381939554 | MYO7A | c.2084C>A (p.Ala695Asp) c.149C>A (p.Ala50Asp) c.2051C>A (p.Ala684Asp) c.1853C>A (p.Ala618Asp) c.1826C>A (p.Ala609Asp) n.2404C>A n.2406C>A c.2174C>A (p.Ala725Asp) c.1943C>A (p.Ala648Asp) n.2189C>A | |
11 | g.77174904C= | CA1984114027 | MYO7A | c.2084C= (p.Ala695=) c.149C= (p.Ala50=) c.2051C= (p.Ala684=) c.1853C= (p.Ala618=) c.1826C= (p.Ala609=) n.2404C= n.2406C= c.2174C= (p.Ala725=) c.1943C= (p.Ala648=) n.2189C= | |
11 | g.77174904C>G | CA381939552 | MYO7A | c.2084C>G (p.Ala695Gly) c.149C>G (p.Ala50Gly) c.2051C>G (p.Ala684Gly) c.1853C>G (p.Ala618Gly) c.1826C>G (p.Ala609Gly) n.2404C>G n.2406C>G c.2174C>G (p.Ala725Gly) c.1943C>G (p.Ala648Gly) n.2189C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77174904C>T | CA381939551 | MYO7A | c.2084C>T (p.Ala695Val) c.149C>T (p.Ala50Val) c.2051C>T (p.Ala684Val) c.1853C>T (p.Ala618Val) c.1826C>T (p.Ala609Val) n.2404C>T n.2406C>T c.2174C>T (p.Ala725Val) c.1943C>T (p.Ala648Val) n.2189C>T | |
11 | g.77174905C>A | CA475794626 | MYO7A | c.2085C>A (p.Ala695=) c.150C>A (p.Ala50=) c.2052C>A (p.Ala684=) c.1854C>A (p.Ala618=) c.1827C>A (p.Ala609=) n.2405C>A n.2407C>A c.2175C>A (p.Ala725=) c.1944C>A (p.Ala648=) n.2190C>A | |
11 | g.77174905C= | CA1984114030 | MYO7A | c.2085C= (p.Ala695=) c.150C= (p.Ala50=) c.2052C= (p.Ala684=) c.1854C= (p.Ala618=) c.1827C= (p.Ala609=) n.2405C= n.2407C= c.2175C= (p.Ala725=) c.1944C= (p.Ala648=) n.2190C= | |
11 | g.77174905C>G | CA475794627 | MYO7A | c.2085C>G (p.Ala695=) c.150C>G (p.Ala50=) c.2052C>G (p.Ala684=) c.1854C>G (p.Ala618=) c.1827C>G (p.Ala609=) n.2405C>G n.2407C>G c.2175C>G (p.Ala725=) c.1944C>G (p.Ala648=) n.2190C>G | |
11 | g.77174905C>T | CA6197682 | MYO7A | c.2085C>T (p.Ala695=) c.150C>T (p.Ala50=) c.2052C>T (p.Ala684=) c.1854C>T (p.Ala618=) c.1827C>T (p.Ala609=) n.2405C>T n.2407C>T c.2175C>T (p.Ala725=) c.1944C>T (p.Ala648=) n.2190C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.77174906T>A | CA381939556 | MYO7A | c.2086T>A (p.Tyr696Asn) c.151T>A (p.Tyr51Asn) c.2053T>A (p.Tyr685Asn) c.1855T>A (p.Tyr619Asn) c.1828T>A (p.Tyr610Asn) n.2406T>A n.2408T>A c.2176T>A (p.Tyr726Asn) c.1945T>A (p.Tyr649Asn) n.2191T>A | |
11 | g.77174906T>C | CA381939558 | MYO7A | c.2086T>C (p.Tyr696His) c.151T>C (p.Tyr51His) c.2053T>C (p.Tyr685His) c.1855T>C (p.Tyr619His) c.1828T>C (p.Tyr610His) n.2406T>C n.2408T>C c.2176T>C (p.Tyr726His) c.1945T>C (p.Tyr649His) n.2191T>C | |
11 | g.77174906T>G | CA381939559 | MYO7A | c.2086T>G (p.Tyr696Asp) c.151T>G (p.Tyr51Asp) c.2053T>G (p.Tyr685Asp) c.1855T>G (p.Tyr619Asp) c.1828T>G (p.Tyr610Asp) n.2406T>G n.2408T>G c.2176T>G (p.Tyr726Asp) c.1945T>G (p.Tyr649Asp) n.2191T>G | |
11 | g.77174906dup | CA1984114033 | MYO7A | c.2086dup (p.Tyr696LeufsTer15) c.151dup (p.Tyr51LeufsTer15) c.2053dup (p.Tyr685LeufsTer15) c.1855dup (p.Tyr619LeufsTer15) c.1828dup (p.Tyr610LeufsTer15) n.2406dup n.2408dup c.2176dup (p.Tyr726LeufsTer15) c.1945dup (p.Tyr649LeufsTer15) n.2191dup | dbSNP |