| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77172799T>A | CA381938385 | MYO7A | c.1849T>A (p.Ser617Thr) c.213T>A c.1816T>A (p.Ser606Thr) c.1618T>A (p.Ser540Thr) c.1591T>A (p.Ser531Thr) n.2169T>A n.2171T>A c.1939T>A (p.Ser647Thr) c.1708T>A (p.Ser570Thr) n.1954T>A | gnomAD v4 |
| 11 | g.77172799T>C | CA6197628 | MYO7A | c.1849T>C (p.Ser617Pro) c.213T>C c.1816T>C (p.Ser606Pro) c.1618T>C (p.Ser540Pro) c.1591T>C (p.Ser531Pro) n.2169T>C n.2171T>C c.1939T>C (p.Ser647Pro) c.1708T>C (p.Ser570Pro) n.1954T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77172799T>G | CA381938388 | MYO7A | c.1849T>G (p.Ser617Ala) c.213T>G c.1816T>G (p.Ser606Ala) c.1618T>G (p.Ser540Ala) c.1591T>G (p.Ser531Ala) n.2169T>G n.2171T>G c.1939T>G (p.Ser647Ala) c.1708T>G (p.Ser570Ala) n.1954T>G | |
| 11 | g.77172799T= | CA1984110601 | MYO7A | c.1849T= (p.Ser617=) c.213T= c.1816T= (p.Ser606=) c.1618T= (p.Ser540=) c.1591T= (p.Ser531=) n.2169T= n.2171T= c.1939T= (p.Ser647=) c.1708T= (p.Ser570=) n.1954T= | |
| 11 | g.77172800C>A | CA381938390 | MYO7A | c.1850C>A (p.Ser617Ter) c.214C>A c.1817C>A (p.Ser606Ter) c.1619C>A (p.Ser540Ter) c.1592C>A (p.Ser531Ter) n.2170C>A n.2172C>A c.1940C>A (p.Ser647Ter) c.1709C>A (p.Ser570Ter) n.1955C>A | gnomAD v4 |
| 11 | g.77172800C>G | CA381938393 | MYO7A | c.1850C>G (p.Ser617Ter) c.214C>G c.1817C>G (p.Ser606Ter) c.1619C>G (p.Ser540Ter) c.1592C>G (p.Ser531Ter) n.2170C>G n.2172C>G c.1940C>G (p.Ser647Ter) c.1709C>G (p.Ser570Ter) n.1955C>G | gnomAD v4 |
| 11 | g.77172800C>T | CA381938395 | MYO7A | c.1850C>T (p.Ser617Leu) c.214C>T c.1817C>T (p.Ser606Leu) c.1619C>T (p.Ser540Leu) c.1592C>T (p.Ser531Leu) n.2170C>T n.2172C>T c.1940C>T (p.Ser647Leu) c.1709C>T (p.Ser570Leu) n.1955C>T | |
| 11 | g.77172801A>C | CA475794312 | MYO7A | c.1851A>C (p.Ser617=) c.215A>C c.1818A>C (p.Ser606=) c.1620A>C (p.Ser540=) c.1593A>C (p.Ser531=) n.2171A>C n.2173A>C c.1941A>C (p.Ser647=) c.1710A>C (p.Ser570=) n.1956A>C | |
| 11 | g.77172801A>G | CA475794311 | MYO7A | c.1851A>G (p.Ser617=) c.215A>G c.1818A>G (p.Ser606=) c.1620A>G (p.Ser540=) c.1593A>G (p.Ser531=) n.2171A>G n.2173A>G c.1941A>G (p.Ser647=) c.1710A>G (p.Ser570=) n.1956A>G | |
| 11 | g.77172801A>T | CA475794310 | MYO7A | c.1851A>T (p.Ser617=) c.215A>T c.1818A>T (p.Ser606=) c.1620A>T (p.Ser540=) c.1593A>T (p.Ser531=) n.2171A>T n.2173A>T c.1941A>T (p.Ser647=) c.1710A>T (p.Ser570=) n.1956A>T | |
| 11 | g.77172802C>A | CA381938396 | MYO7A | c.1852C>A (p.Leu618Met) c.216C>A c.1819C>A (p.Leu607Met) c.1621C>A (p.Leu541Met) c.1594C>A (p.Leu532Met) n.2172C>A n.2174C>A c.1942C>A (p.Leu648Met) c.1711C>A (p.Leu571Met) n.1957C>A | gnomAD v4 |
| 11 | g.77172802C= | CA1984110609 | MYO7A | c.1852C= (p.Leu618=) c.216C= c.1819C= (p.Leu607=) c.1621C= (p.Leu541=) c.1594C= (p.Leu532=) n.2172C= n.2174C= c.1942C= (p.Leu648=) c.1711C= (p.Leu571=) n.1957C= | |
| 11 | g.77172802C>G | CA381938398 | MYO7A | c.1852C>G (p.Leu618Val) c.216C>G c.1819C>G (p.Leu607Val) c.1621C>G (p.Leu541Val) c.1594C>G (p.Leu532Val) n.2172C>G n.2174C>G c.1942C>G (p.Leu648Val) c.1711C>G (p.Leu571Val) n.1957C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77172802C>T | CA475794313 | MYO7A | c.1852C>T (p.Leu618=) c.216C>T c.1819C>T (p.Leu607=) c.1621C>T (p.Leu541=) c.1594C>T (p.Leu532=) n.2172C>T n.2174C>T c.1942C>T (p.Leu648=) c.1711C>T (p.Leu571=) n.1957C>T | gnomAD v4 |
| 11 | g.77172803T>A | CA381938400 | MYO7A | c.1853T>A (p.Leu618Gln) c.217T>A c.1820T>A (p.Leu607Gln) c.1622T>A (p.Leu541Gln) c.1595T>A (p.Leu532Gln) n.2173T>A n.2175T>A c.1943T>A (p.Leu648Gln) c.1712T>A (p.Leu571Gln) n.1958T>A | gnomAD v4 |
| 11 | g.77172803T>C | CA381938403 | MYO7A | c.1853T>C (p.Leu618Pro) c.217T>C c.1820T>C (p.Leu607Pro) c.1622T>C (p.Leu541Pro) c.1595T>C (p.Leu532Pro) n.2173T>C n.2175T>C c.1943T>C (p.Leu648Pro) c.1712T>C (p.Leu571Pro) n.1958T>C | ClinVar gnomAD v4 |
| 11 | g.77172803T>G | CA381938404 | MYO7A | c.1853T>G (p.Leu618Arg) c.217T>G c.1820T>G (p.Leu607Arg) c.1622T>G (p.Leu541Arg) c.1595T>G (p.Leu532Arg) n.2173T>G n.2175T>G c.1943T>G (p.Leu648Arg) c.1712T>G (p.Leu571Arg) n.1958T>G | ClinVar dbSNP |
| 11 | g.77172803T= | CA1984110611 | MYO7A | c.1853T= (p.Leu618=) c.217T= c.1820T= (p.Leu607=) c.1622T= (p.Leu541=) c.1595T= (p.Leu532=) n.2173T= n.2175T= c.1943T= (p.Leu648=) c.1712T= (p.Leu571=) n.1958T= | |
| 11 | g.77172804G>A | CA132225 | MYO7A | c.1854G>A (p.Leu618=) c.218G>A c.1821G>A (p.Leu607=) c.1623G>A (p.Leu541=) c.1596G>A (p.Leu532=) n.2174G>A n.2176G>A c.1944G>A (p.Leu648=) c.1713G>A (p.Leu571=) n.1959G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77172804G>C | CA475794314 | MYO7A | c.1854G>C (p.Leu618=) c.218G>C c.1821G>C (p.Leu607=) c.1623G>C (p.Leu541=) c.1596G>C (p.Leu532=) n.2174G>C n.2176G>C c.1944G>C (p.Leu648=) c.1713G>C (p.Leu571=) n.1959G>C | |
| 11 | g.77172804G= | CA1984110618 | MYO7A | c.1854G= (p.Leu618=) c.218G= c.1821G= (p.Leu607=) c.1623G= (p.Leu541=) c.1596G= (p.Leu532=) n.2174G= n.2176G= c.1944G= (p.Leu648=) c.1713G= (p.Leu571=) n.1959G= | |
| 11 | g.77172804G>T | CA475794315 | MYO7A | c.1854G>T (p.Leu618=) c.218G>T c.1821G>T (p.Leu607=) c.1623G>T (p.Leu541=) c.1596G>T (p.Leu532=) n.2174G>T n.2176G>T c.1944G>T (p.Leu648=) c.1713G>T (p.Leu571=) n.1959G>T | gnomAD v4 |
| 11 | g.77172805G>A | CA381938406 | MYO7A | c.1855G>A (p.Glu619Lys) c.219G>A c.1822G>A (p.Glu608Lys) c.1624G>A (p.Glu542Lys) c.1597G>A (p.Glu533Lys) n.2175G>A n.2177G>A c.1945G>A (p.Glu649Lys) c.1714G>A (p.Glu572Lys) n.1960G>A | dbSNP |
| 11 | g.77172805G>C | CA381938409 | MYO7A | c.1855G>C (p.Glu619Gln) c.219G>C c.1822G>C (p.Glu608Gln) c.1624G>C (p.Glu542Gln) c.1597G>C (p.Glu533Gln) n.2175G>C n.2177G>C c.1945G>C (p.Glu649Gln) c.1714G>C (p.Glu572Gln) n.1960G>C | |
| 11 | g.77172805G= | CA1984110624 | MYO7A | c.1855G= (p.Glu619=) c.219G= c.1822G= (p.Glu608=) c.1624G= (p.Glu542=) c.1597G= (p.Glu533=) n.2175G= n.2177G= c.1945G= (p.Glu649=) c.1714G= (p.Glu572=) n.1960G= | |
| 11 | g.77172805G>T | CA381938408 | MYO7A | c.1855G>T (p.Glu619Ter) c.219G>T c.1822G>T (p.Glu608Ter) c.1624G>T (p.Glu542Ter) c.1597G>T (p.Glu533Ter) n.2175G>T n.2177G>T c.1945G>T (p.Glu649Ter) c.1714G>T (p.Glu572Ter) n.1960G>T | gnomAD v4 |
| 11 | g.77172806A>C | CA381938412 | MYO7A | c.1856A>C (p.Glu619Ala) c.220A>C c.1823A>C (p.Glu608Ala) c.1625A>C (p.Glu542Ala) c.1598A>C (p.Glu533Ala) n.2176A>C n.2178A>C c.1946A>C (p.Glu649Ala) c.1715A>C (p.Glu572Ala) n.1961A>C | |
| 11 | g.77172806A>G | CA381938414 | MYO7A | c.1856A>G (p.Glu619Gly) c.220A>G c.1823A>G (p.Glu608Gly) c.1625A>G (p.Glu542Gly) c.1598A>G (p.Glu533Gly) n.2176A>G n.2178A>G c.1946A>G (p.Glu649Gly) c.1715A>G (p.Glu572Gly) n.1961A>G | gnomAD v4 |
| 11 | g.77172806A>T | CA381938415 | MYO7A | c.1856A>T (p.Glu619Val) c.220A>T c.1823A>T (p.Glu608Val) c.1625A>T (p.Glu542Val) c.1598A>T (p.Glu533Val) n.2176A>T n.2178A>T c.1946A>T (p.Glu649Val) c.1715A>T (p.Glu572Val) n.1961A>T | gnomAD v4 |
| 11 | g.77172807G>A | CA475794316 | MYO7A | c.1857G>A (p.Glu619=) c.221G>A c.1824G>A (p.Glu608=) c.1626G>A (p.Glu542=) c.1599G>A (p.Glu533=) n.2177G>A n.2179G>A c.1947G>A (p.Glu649=) c.1716G>A (p.Glu572=) n.1962G>A | gnomAD v4 |
| 11 | g.77172807G>C | CA381938417 | MYO7A | c.1857G>C (p.Glu619Asp) c.221G>C c.1824G>C (p.Glu608Asp) c.1626G>C (p.Glu542Asp) c.1599G>C (p.Glu533Asp) n.2177G>C n.2179G>C c.1947G>C (p.Glu649Asp) c.1716G>C (p.Glu572Asp) n.1962G>C | gnomAD v4 |
| 11 | g.77172807G>T | CA381938418 | MYO7A | c.1857G>T (p.Glu619Asp) c.221G>T c.1824G>T (p.Glu608Asp) c.1626G>T (p.Glu542Asp) c.1599G>T (p.Glu533Asp) n.2177G>T n.2179G>T c.1947G>T (p.Glu649Asp) c.1716G>T (p.Glu572Asp) n.1962G>T | gnomAD v4 |
| 11 | g.77172811_77172813del | CA2615247667 | MYO7A | c.1861_1863del (p.Leu621del) c.225_227del c.1828_1830del (p.Leu610del) c.1630_1632del (p.Leu544del) c.1603_1605del (p.Leu535del) n.2181_2183del n.2183_2185del c.1951_1953del (p.Leu651del) c.1720_1722del (p.Leu574del) n.1966_1968del | gnomAD v4 |
| 11 | g.77172808C>A | CA381938420 | MYO7A | c.1858C>A (p.Leu620Met) c.222C>A c.1825C>A (p.Leu609Met) c.1627C>A (p.Leu543Met) c.1600C>A (p.Leu534Met) n.2178C>A n.2180C>A c.1948C>A (p.Leu650Met) c.1717C>A (p.Leu573Met) n.1963C>A | gnomAD v4 |
| 11 | g.77172808C>G | CA381938421 | MYO7A | c.1858C>G (p.Leu620Val) c.222C>G c.1825C>G (p.Leu609Val) c.1627C>G (p.Leu543Val) c.1600C>G (p.Leu534Val) n.2178C>G n.2180C>G c.1948C>G (p.Leu650Val) c.1717C>G (p.Leu573Val) n.1963C>G | |
| 11 | g.77172808C>T | CA475794320 | MYO7A | c.1858C>T (p.Leu620=) c.222C>T c.1825C>T (p.Leu609=) c.1627C>T (p.Leu543=) c.1600C>T (p.Leu534=) n.2178C>T n.2180C>T c.1948C>T (p.Leu650=) c.1717C>T (p.Leu573=) n.1963C>T | gnomAD v4 |
| 11 | g.77172809T>A | CA381938423 | MYO7A | c.1859T>A (p.Leu620Gln) c.223T>A c.1826T>A (p.Leu609Gln) c.1628T>A (p.Leu543Gln) c.1601T>A (p.Leu534Gln) n.2179T>A n.2181T>A c.1949T>A (p.Leu650Gln) c.1718T>A (p.Leu573Gln) n.1964T>A | |
| 11 | g.77172809T>C | CA381938425 | MYO7A | c.1859T>C (p.Leu620Pro) c.223T>C c.1826T>C (p.Leu609Pro) c.1628T>C (p.Leu543Pro) c.1601T>C (p.Leu534Pro) n.2179T>C n.2181T>C c.1949T>C (p.Leu650Pro) c.1718T>C (p.Leu573Pro) n.1964T>C | |
| 11 | g.77172809T>G | CA381938426 | MYO7A | c.1859T>G (p.Leu620Arg) c.223T>G c.1826T>G (p.Leu609Arg) c.1628T>G (p.Leu543Arg) c.1601T>G (p.Leu534Arg) n.2179T>G n.2181T>G c.1949T>G (p.Leu650Arg) c.1718T>G (p.Leu573Arg) n.1964T>G | |
| 11 | g.77172810G>A | CA475794323 | MYO7A | c.1860G>A (p.Leu620=) c.224G>A c.1827G>A (p.Leu609=) c.1629G>A (p.Leu543=) c.1602G>A (p.Leu534=) n.2180G>A n.2182G>A c.1950G>A (p.Leu650=) c.1719G>A (p.Leu573=) n.1965G>A | ClinVar gnomAD v4 |
| 11 | g.77172810G>C | CA475794324 | MYO7A | c.1860G>C (p.Leu620=) c.224G>C c.1827G>C (p.Leu609=) c.1629G>C (p.Leu543=) c.1602G>C (p.Leu534=) n.2180G>C n.2182G>C c.1950G>C (p.Leu650=) c.1719G>C (p.Leu573=) n.1965G>C | ClinVar dbSNP |
| 11 | g.77172810G= | CA1984110627 | MYO7A | c.1860G= (p.Leu620=) c.224G= c.1827G= (p.Leu609=) c.1629G= (p.Leu543=) c.1602G= (p.Leu534=) n.2180G= n.2182G= c.1950G= (p.Leu650=) c.1719G= (p.Leu573=) n.1965G= | |
| 11 | g.77172810G>T | CA475794325 | MYO7A | c.1860G>T (p.Leu620=) c.224G>T c.1827G>T (p.Leu609=) c.1629G>T (p.Leu543=) c.1602G>T (p.Leu534=) n.2180G>T n.2182G>T c.1950G>T (p.Leu650=) c.1719G>T (p.Leu573=) n.1965G>T | ClinVar gnomAD v4 |
| 11 | g.77172811C>A | CA381938430 | MYO7A | c.1861C>A (p.Leu621Met) c.225C>A c.1828C>A (p.Leu610Met) c.1630C>A (p.Leu544Met) c.1603C>A (p.Leu535Met) n.2181C>A n.2183C>A c.1951C>A (p.Leu651Met) c.1720C>A (p.Leu574Met) n.1966C>A | gnomAD v4 |
| 11 | g.77172811C>G | CA381938428 | MYO7A | c.1861C>G (p.Leu621Val) c.225C>G c.1828C>G (p.Leu610Val) c.1630C>G (p.Leu544Val) c.1603C>G (p.Leu535Val) n.2181C>G n.2183C>G c.1951C>G (p.Leu651Val) c.1720C>G (p.Leu574Val) n.1966C>G | |
| 11 | g.77172811C>T | CA475794326 | MYO7A | c.1861C>T (p.Leu621=) c.225C>T c.1828C>T (p.Leu610=) c.1630C>T (p.Leu544=) c.1603C>T (p.Leu535=) n.2181C>T n.2183C>T c.1951C>T (p.Leu651=) c.1720C>T (p.Leu574=) n.1966C>T | |
| 11 | g.77172812T>A | CA381938432 | MYO7A | c.1862T>A (p.Leu621Gln) c.226T>A c.1829T>A (p.Leu610Gln) c.1631T>A (p.Leu544Gln) c.1604T>A (p.Leu535Gln) n.2182T>A n.2184T>A c.1952T>A (p.Leu651Gln) c.1721T>A (p.Leu574Gln) n.1967T>A | gnomAD v4 |
| 11 | g.77172812T>C | CA381938433 | MYO7A | c.1862T>C (p.Leu621Pro) c.226T>C c.1829T>C (p.Leu610Pro) c.1631T>C (p.Leu544Pro) c.1604T>C (p.Leu535Pro) n.2182T>C n.2184T>C c.1952T>C (p.Leu651Pro) c.1721T>C (p.Leu574Pro) n.1967T>C | gnomAD v4 |
| 11 | g.77172812T>G | CA381938434 | MYO7A | c.1862T>G (p.Leu621Arg) c.226T>G c.1829T>G (p.Leu610Arg) c.1631T>G (p.Leu544Arg) c.1604T>G (p.Leu535Arg) n.2182T>G n.2184T>G c.1952T>G (p.Leu651Arg) c.1721T>G (p.Leu574Arg) n.1967T>G | |
| 11 | g.77172813G>A | CA475794328 | MYO7A | c.1863G>A (p.Leu621=) c.227G>A c.1830G>A (p.Leu610=) c.1632G>A (p.Leu544=) c.1605G>A (p.Leu535=) n.2183G>A n.2185G>A c.1953G>A (p.Leu651=) c.1722G>A (p.Leu574=) n.1968G>A | dbSNP gnomAD v4 |
| 11 | g.77172813G>C | CA475794329 | MYO7A | c.1863G>C (p.Leu621=) c.227G>C c.1830G>C (p.Leu610=) c.1632G>C (p.Leu544=) c.1605G>C (p.Leu535=) n.2183G>C n.2185G>C c.1953G>C (p.Leu651=) c.1722G>C (p.Leu574=) n.1968G>C | |
| 11 | g.77172813G= | CA1984110630 | MYO7A | c.1863G= (p.Leu621=) c.227G= c.1830G= (p.Leu610=) c.1632G= (p.Leu544=) c.1605G= (p.Leu535=) n.2183G= n.2185G= c.1953G= (p.Leu651=) c.1722G= (p.Leu574=) n.1968G= | |
| 11 | g.77172813G>T | CA475794330 | MYO7A | c.1863G>T (p.Leu621=) c.227G>T c.1830G>T (p.Leu610=) c.1632G>T (p.Leu544=) c.1605G>T (p.Leu535=) n.2183G>T n.2185G>T c.1953G>T (p.Leu651=) c.1722G>T (p.Leu574=) n.1968G>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77172814A= | CA1984110638 | MYO7A | c.1864A= (p.Met622=) c.228A= c.1831A= (p.Met611=) c.1633A= (p.Met545=) c.1606A= (p.Met536=) n.2184A= n.2186A= c.1954A= (p.Met652=) c.1723A= (p.Met575=) n.1969A= | |
| 11 | g.77172814A>C | CA381938436 | MYO7A | c.1864A>C (p.Met622Leu) c.228A>C c.1831A>C (p.Met611Leu) c.1633A>C (p.Met545Leu) c.1606A>C (p.Met536Leu) n.2184A>C n.2186A>C c.1954A>C (p.Met652Leu) c.1723A>C (p.Met575Leu) n.1969A>C | |
| 11 | g.77172814A>G | CA381938438 | MYO7A | c.1864A>G (p.Met622Val) c.228A>G c.1831A>G (p.Met611Val) c.1633A>G (p.Met545Val) c.1606A>G (p.Met536Val) n.2184A>G n.2186A>G c.1954A>G (p.Met652Val) c.1723A>G (p.Met575Val) n.1969A>G | |
| 11 | g.77172814A>T | CA6197629 | MYO7A | c.1864A>T (p.Met622Leu) c.228A>T c.1831A>T (p.Met611Leu) c.1633A>T (p.Met545Leu) c.1606A>T (p.Met536Leu) n.2184A>T n.2186A>T c.1954A>T (p.Met652Leu) c.1723A>T (p.Met575Leu) n.1969A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.77172815T>A | CA381938441 | MYO7A | c.1865T>A (p.Met622Lys) c.229T>A c.1832T>A (p.Met611Lys) c.1634T>A (p.Met545Lys) c.1607T>A (p.Met536Lys) n.2185T>A n.2187T>A c.1955T>A (p.Met652Lys) c.1724T>A (p.Met575Lys) n.1970T>A | gnomAD v4 |
| 11 | g.77172815T>C | CA6197630 | MYO7A | c.1865T>C (p.Met622Thr) c.229T>C c.1832T>C (p.Met611Thr) c.1634T>C (p.Met545Thr) c.1607T>C (p.Met536Thr) n.2185T>C n.2187T>C c.1955T>C (p.Met652Thr) c.1724T>C (p.Met575Thr) n.1970T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.77172815T>G | CA381938440 | MYO7A | c.1865T>G (p.Met622Arg) c.229T>G c.1832T>G (p.Met611Arg) c.1634T>G (p.Met545Arg) c.1607T>G (p.Met536Arg) n.2185T>G n.2187T>G c.1955T>G (p.Met652Arg) c.1724T>G (p.Met575Arg) n.1970T>G | |
| 11 | g.77172815T= | CA1984110644 | MYO7A | c.1865T= (p.Met622=) c.229T= c.1832T= (p.Met611=) c.1634T= (p.Met545=) c.1607T= (p.Met536=) n.2185T= n.2187T= c.1955T= (p.Met652=) c.1724T= (p.Met575=) n.1970T= | |
| 11 | g.77172816G>A | CA381938443 | MYO7A | c.1866G>A (p.Met622Ile) c.230G>A c.1833G>A (p.Met611Ile) c.1635G>A (p.Met545Ile) c.1608G>A (p.Met536Ile) n.2186G>A n.2188G>A c.1956G>A (p.Met652Ile) c.1725G>A (p.Met575Ile) n.1971G>A | gnomAD v4 |
| 11 | g.77172816G>C | CA381938445 | MYO7A | c.1866G>C (p.Met622Ile) c.230G>C c.1833G>C (p.Met611Ile) c.1635G>C (p.Met545Ile) c.1608G>C (p.Met536Ile) n.2186G>C n.2188G>C c.1956G>C (p.Met652Ile) c.1725G>C (p.Met575Ile) n.1971G>C | |
| 11 | g.77172816G>T | CA381938447 | MYO7A | c.1866G>T (p.Met622Ile) c.230G>T c.1833G>T (p.Met611Ile) c.1635G>T (p.Met545Ile) c.1608G>T (p.Met536Ile) n.2186G>T n.2188G>T c.1956G>T (p.Met652Ile) c.1725G>T (p.Met575Ile) n.1971G>T | gnomAD v4 |
| 11 | g.77172817C>A | CA381938448 | MYO7A | c.1867C>A (p.Arg623Ser) c.231C>A c.1834C>A (p.Arg612Ser) c.1636C>A (p.Arg546Ser) c.1609C>A (p.Arg537Ser) n.2187C>A n.2189C>A c.1957C>A (p.Arg653Ser) c.1726C>A (p.Arg576Ser) n.1972C>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77172817C= | CA1984110648 | MYO7A | c.1867C= (p.Arg623=) c.231C= c.1834C= (p.Arg612=) c.1636C= (p.Arg546=) c.1609C= (p.Arg537=) n.2187C= n.2189C= c.1957C= (p.Arg653=) c.1726C= (p.Arg576=) n.1972C= | |
| 11 | g.77172817C>G | CA381938449 | MYO7A | c.1867C>G (p.Arg623Gly) c.231C>G c.1834C>G (p.Arg612Gly) c.1636C>G (p.Arg546Gly) c.1609C>G (p.Arg537Gly) n.2187C>G n.2189C>G c.1957C>G (p.Arg653Gly) c.1726C>G (p.Arg576Gly) n.1972C>G | gnomAD v4 |
| 11 | g.77172817C>T | CA6197631 | MYO7A | c.1867C>T (p.Arg623Cys) c.231C>T c.1834C>T (p.Arg612Cys) c.1636C>T (p.Arg546Cys) c.1609C>T (p.Arg537Cys) n.2187C>T n.2189C>T c.1957C>T (p.Arg653Cys) c.1726C>T (p.Arg576Cys) n.1972C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77172818G>A | CA132227 | MYO7A | c.1868G>A (p.Arg623His) c.232G>A c.1835G>A (p.Arg612His) c.1637G>A (p.Arg546His) c.1610G>A (p.Arg537His) n.2188G>A n.2190G>A c.1958G>A (p.Arg653His) c.1727G>A (p.Arg576His) n.1973G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77172818G>C | CA381938451 | MYO7A | c.1868G>C (p.Arg623Pro) c.232G>C c.1835G>C (p.Arg612Pro) c.1637G>C (p.Arg546Pro) c.1610G>C (p.Arg537Pro) n.2188G>C n.2190G>C c.1958G>C (p.Arg653Pro) c.1727G>C (p.Arg576Pro) n.1973G>C | gnomAD v4 |
| 11 | g.77172818G= | CA1984110655 | MYO7A | c.1868G= (p.Arg623=) c.232G= c.1835G= (p.Arg612=) c.1637G= (p.Arg546=) c.1610G= (p.Arg537=) n.2188G= n.2190G= c.1958G= (p.Arg653=) c.1727G= (p.Arg576=) n.1973G= | |
| 11 | g.77172818G>T | CA6197632 | MYO7A | c.1868G>T (p.Arg623Leu) c.232G>T c.1835G>T (p.Arg612Leu) c.1637G>T (p.Arg546Leu) c.1610G>T (p.Arg537Leu) n.2188G>T n.2190G>T c.1958G>T (p.Arg653Leu) c.1727G>T (p.Arg576Leu) n.1973G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77172819C>A | CA475794333 | MYO7A | c.1869C>A (p.Arg623=) c.233C>A c.1836C>A (p.Arg612=) c.1638C>A (p.Arg546=) c.1611C>A (p.Arg537=) n.2189C>A n.2191C>A c.1959C>A (p.Arg653=) c.1728C>A (p.Arg576=) n.1974C>A | gnomAD v4 |
| 11 | g.77172819C= | CA1984110663 | MYO7A | c.1869C= (p.Arg623=) c.233C= c.1836C= (p.Arg612=) c.1638C= (p.Arg546=) c.1611C= (p.Arg537=) n.2189C= n.2191C= c.1959C= (p.Arg653=) c.1728C= (p.Arg576=) n.1974C= | |
| 11 | g.77172819C>G | CA475794335 | MYO7A | c.1869C>G (p.Arg623=) c.233C>G c.1836C>G (p.Arg612=) c.1638C>G (p.Arg546=) c.1611C>G (p.Arg537=) n.2189C>G n.2191C>G c.1959C>G (p.Arg653=) c.1728C>G (p.Arg576=) n.1974C>G | |
| 11 | g.77172819C>T | CA475794334 | MYO7A | c.1869C>T (p.Arg623=) c.233C>T c.1836C>T (p.Arg612=) c.1638C>T (p.Arg546=) c.1611C>T (p.Arg537=) n.2189C>T n.2191C>T c.1959C>T (p.Arg653=) c.1728C>T (p.Arg576=) n.1974C>T | dbSNP |
| 11 | g.77172820A= | CA1984110668 | MYO7A | c.1870A= (p.Thr624=) c.234A= c.1837A= (p.Thr613=) c.1639A= (p.Thr547=) c.1612A= (p.Thr538=) n.2190A= n.2192A= c.1960A= (p.Thr654=) c.1729A= (p.Thr577=) n.1975A= | |
| 11 | g.77172820A>C | CA381938453 | MYO7A | c.1870A>C (p.Thr624Pro) c.234A>C c.1837A>C (p.Thr613Pro) c.1639A>C (p.Thr547Pro) c.1612A>C (p.Thr538Pro) n.2190A>C n.2192A>C c.1960A>C (p.Thr654Pro) c.1729A>C (p.Thr577Pro) n.1975A>C | gnomAD v4 |
| 11 | g.77172820A>G | CA381938454 | MYO7A | c.1870A>G (p.Thr624Ala) c.234A>G c.1837A>G (p.Thr613Ala) c.1639A>G (p.Thr547Ala) c.1612A>G (p.Thr538Ala) n.2190A>G n.2192A>G c.1960A>G (p.Thr654Ala) c.1729A>G (p.Thr577Ala) n.1975A>G | gnomAD v4 |
| 11 | g.77172820A>T | CA381938456 | MYO7A | c.1870A>T (p.Thr624Ser) c.234A>T c.1837A>T (p.Thr613Ser) c.1639A>T (p.Thr547Ser) c.1612A>T (p.Thr538Ser) n.2190A>T n.2192A>T c.1960A>T (p.Thr654Ser) c.1729A>T (p.Thr577Ser) n.1975A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77172821C>A | CA16606339 | MYO7A | c.1871C>A (p.Thr624Lys) c.235C>A c.1838C>A (p.Thr613Lys) c.1640C>A (p.Thr547Lys) c.1613C>A (p.Thr538Lys) n.2191C>A n.2193C>A c.1961C>A (p.Thr654Lys) c.1730C>A (p.Thr577Lys) n.1976C>A | ClinVar dbSNP |
| 11 | g.77172821C= | CA1984110675 | MYO7A | c.1871C= (p.Thr624=) c.235C= c.1838C= (p.Thr613=) c.1640C= (p.Thr547=) c.1613C= (p.Thr538=) n.2191C= n.2193C= c.1961C= (p.Thr654=) c.1730C= (p.Thr577=) n.1976C= | |
| 11 | g.77172821C>G | CA381938459 | MYO7A | c.1871C>G (p.Thr624Arg) c.235C>G c.1838C>G (p.Thr613Arg) c.1640C>G (p.Thr547Arg) c.1613C>G (p.Thr538Arg) n.2191C>G n.2193C>G c.1961C>G (p.Thr654Arg) c.1730C>G (p.Thr577Arg) n.1976C>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77172821C>T | CA224836137 | MYO7A | c.1871C>T (p.Thr624Met) c.235C>T c.1838C>T (p.Thr613Met) c.1640C>T (p.Thr547Met) c.1613C>T (p.Thr538Met) n.2191C>T n.2193C>T c.1961C>T (p.Thr654Met) c.1730C>T (p.Thr577Met) n.1976C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77172822G>A | CA224836142 | MYO7A | c.1872G>A (p.Thr624=) c.236G>A c.1839G>A (p.Thr613=) c.1641G>A (p.Thr547=) c.1614G>A (p.Thr538=) n.2192G>A n.2194G>A c.1962G>A (p.Thr654=) c.1731G>A (p.Thr577=) n.1977G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77172822G>C | CA475794337 | MYO7A | c.1872G>C (p.Thr624=) c.236G>C c.1839G>C (p.Thr613=) c.1641G>C (p.Thr547=) c.1614G>C (p.Thr538=) n.2192G>C n.2194G>C c.1962G>C (p.Thr654=) c.1731G>C (p.Thr577=) n.1977G>C | |
| 11 | g.77172822G= | CA1984110688 | MYO7A | c.1872G= (p.Thr624=) c.236G= c.1839G= (p.Thr613=) c.1641G= (p.Thr547=) c.1614G= (p.Thr538=) n.2192G= n.2194G= c.1962G= (p.Thr654=) c.1731G= (p.Thr577=) n.1977G= | |
| 11 | g.77172822G>T | CA475794339 | MYO7A | c.1872G>T (p.Thr624=) c.236G>T c.1839G>T (p.Thr613=) c.1641G>T (p.Thr547=) c.1614G>T (p.Thr538=) n.2192G>T n.2194G>T c.1962G>T (p.Thr654=) c.1731G>T (p.Thr577=) n.1977G>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.77172823C>A | CA381938462 | MYO7A | c.1873C>A (p.Leu625Met) c.237C>A c.1840C>A (p.Leu614Met) c.1642C>A (p.Leu548Met) c.1615C>A (p.Leu539Met) n.2193C>A n.2195C>A c.1963C>A (p.Leu655Met) c.1732C>A (p.Leu578Met) n.1978C>A | gnomAD v4 |
| 11 | g.77172823C>G | CA381938463 | MYO7A | c.1873C>G (p.Leu625Val) c.237C>G c.1840C>G (p.Leu614Val) c.1642C>G (p.Leu548Val) c.1615C>G (p.Leu539Val) n.2193C>G n.2195C>G c.1963C>G (p.Leu655Val) c.1732C>G (p.Leu578Val) n.1978C>G | |
| 11 | g.77172823C>T | CA475794342 | MYO7A | c.1873C>T (p.Leu625=) c.237C>T c.1840C>T (p.Leu614=) c.1642C>T (p.Leu548=) c.1615C>T (p.Leu539=) n.2193C>T n.2195C>T c.1963C>T (p.Leu655=) c.1732C>T (p.Leu578=) n.1978C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.77172824T>A | CA381938465 | MYO7A | c.1874T>A (p.Leu625Gln) c.238T>A c.1841T>A (p.Leu614Gln) c.1643T>A (p.Leu548Gln) c.1616T>A (p.Leu539Gln) n.2194T>A n.2196T>A c.1964T>A (p.Leu655Gln) c.1733T>A (p.Leu578Gln) n.1979T>A | |
| 11 | g.77172824T>C | CA381938467 | MYO7A | c.1874T>C (p.Leu625Pro) c.238T>C c.1841T>C (p.Leu614Pro) c.1643T>C (p.Leu548Pro) c.1616T>C (p.Leu539Pro) n.2194T>C n.2196T>C c.1964T>C (p.Leu655Pro) c.1733T>C (p.Leu578Pro) n.1979T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77172824T>G | CA381938469 | MYO7A | c.1874T>G (p.Leu625Arg) c.238T>G c.1841T>G (p.Leu614Arg) c.1643T>G (p.Leu548Arg) c.1616T>G (p.Leu539Arg) n.2194T>G n.2196T>G c.1964T>G (p.Leu655Arg) c.1733T>G (p.Leu578Arg) n.1979T>G | |
| 11 | g.77172824T= | CA1984110693 | MYO7A | c.1874T= (p.Leu625=) c.238T= c.1841T= (p.Leu614=) c.1643T= (p.Leu548=) c.1616T= (p.Leu539=) n.2194T= n.2196T= c.1964T= (p.Leu655=) c.1733T= (p.Leu578=) n.1979T= | |
| 11 | g.77172825G>A | CA475794344 | MYO7A | c.1875G>A (p.Leu625=) c.239G>A c.1842G>A (p.Leu614=) c.1644G>A (p.Leu548=) c.1617G>A (p.Leu539=) n.2195G>A n.2197G>A c.1965G>A (p.Leu655=) c.1734G>A (p.Leu578=) n.1980G>A | ClinVar gnomAD v4 |
| 11 | g.77172825G>C | CA475794346 | MYO7A | c.1875G>C (p.Leu625=) c.239G>C c.1842G>C (p.Leu614=) c.1644G>C (p.Leu548=) c.1617G>C (p.Leu539=) n.2195G>C n.2197G>C c.1965G>C (p.Leu655=) c.1734G>C (p.Leu578=) n.1980G>C | |
| 11 | g.77172825G>T | CA475794347 | MYO7A | c.1875G>T (p.Leu625=) c.239G>T c.1842G>T (p.Leu614=) c.1644G>T (p.Leu548=) c.1617G>T (p.Leu539=) n.2195G>T n.2197G>T c.1965G>T (p.Leu655=) c.1734G>T (p.Leu578=) n.1980G>T | gnomAD v4 |
| 11 | g.77172826G>A | CA381938470 | MYO7A | c.1876G>A (p.Gly626Ser) c.240G>A c.1843G>A (p.Gly615Ser) c.1645G>A (p.Gly549Ser) c.1618G>A (p.Gly540Ser) n.2196G>A n.2198G>A c.1966G>A (p.Gly656Ser) c.1735G>A (p.Gly579Ser) n.1981G>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77172826G>C | CA381938474 | MYO7A | c.1876G>C (p.Gly626Arg) c.240G>C c.1843G>C (p.Gly615Arg) c.1645G>C (p.Gly549Arg) c.1618G>C (p.Gly540Arg) n.2196G>C n.2198G>C c.1966G>C (p.Gly656Arg) c.1735G>C (p.Gly579Arg) n.1981G>C | |
| 11 | g.77172826G= | CA1984110697 | MYO7A | c.1876G= (p.Gly626=) c.240G= c.1843G= (p.Gly615=) c.1645G= (p.Gly549=) c.1618G= (p.Gly540=) n.2196G= n.2198G= c.1966G= (p.Gly656=) c.1735G= (p.Gly579=) n.1981G= | |
| 11 | g.77172826G>T | CA381938472 | MYO7A | c.1876G>T (p.Gly626Cys) c.240G>T c.1843G>T (p.Gly615Cys) c.1645G>T (p.Gly549Cys) c.1618G>T (p.Gly540Cys) n.2196G>T n.2198G>T c.1966G>T (p.Gly656Cys) c.1735G>T (p.Gly579Cys) n.1981G>T | gnomAD v4 |
| 11 | g.77172827G>A | CA381938475 | MYO7A | c.1877G>A (p.Gly626Asp) c.241G>A c.1844G>A (p.Gly615Asp) c.1646G>A (p.Gly549Asp) c.1619G>A (p.Gly540Asp) n.2197G>A n.2199G>A c.1967G>A (p.Gly656Asp) c.1736G>A (p.Gly579Asp) n.1982G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77172827G>C | CA381938477 | MYO7A | c.1877G>C (p.Gly626Ala) c.241G>C c.1844G>C (p.Gly615Ala) c.1646G>C (p.Gly549Ala) c.1619G>C (p.Gly540Ala) n.2197G>C n.2199G>C c.1967G>C (p.Gly656Ala) c.1736G>C (p.Gly579Ala) n.1982G>C | |
| 11 | g.77172827G= | CA1984110705 | MYO7A | c.1877G= (p.Gly626=) c.241G= c.1844G= (p.Gly615=) c.1646G= (p.Gly549=) c.1619G= (p.Gly540=) n.2197G= n.2199G= c.1967G= (p.Gly656=) c.1736G= (p.Gly579=) n.1982G= | |
| 11 | g.77172827G>T | CA381938478 | MYO7A | c.1877G>T (p.Gly626Val) c.241G>T c.1844G>T (p.Gly615Val) c.1646G>T (p.Gly549Val) c.1619G>T (p.Gly540Val) n.2197G>T n.2199G>T c.1967G>T (p.Gly656Val) c.1736G>T (p.Gly579Val) n.1982G>T | |
| 11 | g.77172828T>A | CA475794353 | MYO7A | c.1878T>A (p.Gly626=) c.242T>A c.1845T>A (p.Gly615=) c.1647T>A (p.Gly549=) c.1620T>A (p.Gly540=) n.2198T>A n.2200T>A c.1968T>A (p.Gly656=) c.1737T>A (p.Gly579=) n.1983T>A | |
| 11 | g.77172828T>C | CA475794351 | MYO7A | c.1878T>C (p.Gly626=) c.242T>C c.1845T>C (p.Gly615=) c.1647T>C (p.Gly549=) c.1620T>C (p.Gly540=) n.2198T>C n.2200T>C c.1968T>C (p.Gly656=) c.1737T>C (p.Gly579=) n.1983T>C | ClinVar |
| 11 | g.77172828T>G | CA475794349 | MYO7A | c.1878T>G (p.Gly626=) c.242T>G c.1845T>G (p.Gly615=) c.1647T>G (p.Gly549=) c.1620T>G (p.Gly540=) n.2198T>G n.2200T>G c.1968T>G (p.Gly656=) c.1737T>G (p.Gly579=) n.1983T>G | dbSNP |
| 11 | g.77172828T= | CA1984110708 | MYO7A | c.1878T= (p.Gly626=) c.242T= c.1845T= (p.Gly615=) c.1647T= (p.Gly549=) c.1620T= (p.Gly540=) n.2198T= n.2200T= c.1968T= (p.Gly656=) c.1737T= (p.Gly579=) n.1983T= | |
| 11 | g.77172829G>A | CA381938481 | MYO7A | c.1879G>A (p.Ala627Thr) c.243G>A c.1846G>A (p.Ala616Thr) c.1648G>A (p.Ala550Thr) c.1621G>A (p.Ala541Thr) n.2199G>A n.2201G>A c.1969G>A (p.Ala657Thr) c.1738G>A (p.Ala580Thr) n.1984G>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.77172829G>C | CA381938482 | MYO7A | c.1879G>C (p.Ala627Pro) c.243G>C c.1846G>C (p.Ala616Pro) c.1648G>C (p.Ala550Pro) c.1621G>C (p.Ala541Pro) n.2199G>C n.2201G>C c.1969G>C (p.Ala657Pro) c.1738G>C (p.Ala580Pro) n.1984G>C | |
| 11 | g.77172829G>T | CA381938483 | MYO7A | c.1879G>T (p.Ala627Ser) c.243G>T c.1846G>T (p.Ala616Ser) c.1648G>T (p.Ala550Ser) c.1621G>T (p.Ala541Ser) n.2199G>T n.2201G>T c.1969G>T (p.Ala657Ser) c.1738G>T (p.Ala580Ser) n.1984G>T | gnomAD v4 |
| 11 | g.77172830C>A | CA381938484 | MYO7A | c.1880C>A (p.Ala627Asp) c.244C>A c.1847C>A (p.Ala616Asp) c.1649C>A (p.Ala550Asp) c.1622C>A (p.Ala541Asp) n.2200C>A n.2202C>A c.1970C>A (p.Ala657Asp) c.1739C>A (p.Ala580Asp) n.1985C>A | |
| 11 | g.77172830C>G | CA381938486 | MYO7A | c.1880C>G (p.Ala627Gly) c.244C>G c.1847C>G (p.Ala616Gly) c.1649C>G (p.Ala550Gly) c.1622C>G (p.Ala541Gly) n.2200C>G n.2202C>G c.1970C>G (p.Ala657Gly) c.1739C>G (p.Ala580Gly) n.1985C>G | |
| 11 | g.77172830C>T | CA381938488 | MYO7A | c.1880C>T (p.Ala627Val) c.244C>T c.1847C>T (p.Ala616Val) c.1649C>T (p.Ala550Val) c.1622C>T (p.Ala541Val) n.2200C>T n.2202C>T c.1970C>T (p.Ala657Val) c.1739C>T (p.Ala580Val) n.1985C>T | gnomAD v4 |
| 11 | g.77172831C>A | CA224836148 | MYO7A | c.1881C>A (p.Ala627=) c.245C>A c.1848C>A (p.Ala616=) c.1650C>A (p.Ala550=) c.1623C>A (p.Ala541=) n.2201C>A n.2203C>A c.1971C>A (p.Ala657=) c.1740C>A (p.Ala580=) n.1986C>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.77172831C= | CA1984110713 | MYO7A | c.1881C= (p.Ala627=) c.245C= c.1848C= (p.Ala616=) c.1650C= (p.Ala550=) c.1623C= (p.Ala541=) n.2201C= n.2203C= c.1971C= (p.Ala657=) c.1740C= (p.Ala580=) n.1986C= | |
| 11 | g.77172831C>G | CA224836150 | MYO7A | c.1881C>G (p.Ala627=) c.245C>G c.1848C>G (p.Ala616=) c.1650C>G (p.Ala550=) c.1623C>G (p.Ala541=) n.2201C>G n.2203C>G c.1971C>G (p.Ala657=) c.1740C>G (p.Ala580=) n.1986C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77172831C>T | CA475794356 | MYO7A | c.1881C>T (p.Ala627=) c.245C>T c.1848C>T (p.Ala616=) c.1650C>T (p.Ala550=) c.1623C>T (p.Ala541=) n.2201C>T n.2203C>T c.1971C>T (p.Ala657=) c.1740C>T (p.Ala580=) n.1986C>T | ClinVar |
| 11 | g.77172832T>A | CA381938490 | MYO7A | c.1882T>A (p.Cys628Ser) c.246T>A c.1849T>A (p.Cys617Ser) c.1651T>A (p.Cys551Ser) c.1624T>A (p.Cys542Ser) n.2202T>A n.2204T>A c.1972T>A (p.Cys658Ser) c.1741T>A (p.Cys581Ser) n.1987T>A | |
| 11 | g.77172832T>C | CA381938491 | MYO7A | c.1882T>C (p.Cys628Arg) c.246T>C c.1849T>C (p.Cys617Arg) c.1651T>C (p.Cys551Arg) c.1624T>C (p.Cys542Arg) n.2202T>C n.2204T>C c.1972T>C (p.Cys658Arg) c.1741T>C (p.Cys581Arg) n.1987T>C | gnomAD v4 |
| 11 | g.77172832T>G | CA381938493 | MYO7A | c.1882T>G (p.Cys628Gly) c.246T>G c.1849T>G (p.Cys617Gly) c.1651T>G (p.Cys551Gly) c.1624T>G (p.Cys542Gly) n.2202T>G n.2204T>G c.1972T>G (p.Cys658Gly) c.1741T>G (p.Cys581Gly) n.1987T>G | |
| 11 | g.77172833G>A | CA381938497 | MYO7A | c.1883G>A (p.Cys628Tyr) c.247G>A c.1850G>A (p.Cys617Tyr) c.1652G>A (p.Cys551Tyr) c.1625G>A (p.Cys542Tyr) n.2203G>A n.2205G>A c.1973G>A (p.Cys658Tyr) c.1742G>A (p.Cys581Tyr) n.1988G>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77172833G>C | CA381938495 | MYO7A | c.1883G>C (p.Cys628Ser) c.247G>C c.1850G>C (p.Cys617Ser) c.1652G>C (p.Cys551Ser) c.1625G>C (p.Cys542Ser) n.2203G>C n.2205G>C c.1973G>C (p.Cys658Ser) c.1742G>C (p.Cys581Ser) n.1988G>C | |
| 11 | g.77172833G= | CA1984110723 | MYO7A | c.1883G= (p.Cys628=) c.247G= c.1850G= (p.Cys617=) c.1652G= (p.Cys551=) c.1625G= (p.Cys542=) n.2203G= n.2205G= c.1973G= (p.Cys658=) c.1742G= (p.Cys581=) n.1988G= | |
| 11 | g.77172833G>T | CA381938494 | MYO7A | c.1883G>T (p.Cys628Phe) c.247G>T c.1850G>T (p.Cys617Phe) c.1652G>T (p.Cys551Phe) c.1625G>T (p.Cys542Phe) n.2203G>T n.2205G>T c.1973G>T (p.Cys658Phe) c.1742G>T (p.Cys581Phe) n.1988G>T | gnomAD v4 |
| 11 | g.77172834C>A | CA277963 | MYO7A | c.1884C>A (p.Cys628Ter) c.248C>A c.1851C>A (p.Cys617Ter) c.1653C>A (p.Cys551Ter) c.1626C>A (p.Cys542Ter) n.2204C>A n.2206C>A c.1974C>A (p.Cys658Ter) c.1743C>A (p.Cys581Ter) n.1989C>A | ClinVar dbSNP |
| 11 | g.77172834C= | CA1984110729 | MYO7A | c.1884C= (p.Cys628=) c.248C= c.1851C= (p.Cys617=) c.1653C= (p.Cys551=) c.1626C= (p.Cys542=) n.2204C= n.2206C= c.1974C= (p.Cys658=) c.1743C= (p.Cys581=) n.1989C= | |
| 11 | g.77172834C>G | CA381938500 | MYO7A | c.1884C>G (p.Cys628Trp) c.248C>G c.1851C>G (p.Cys617Trp) c.1653C>G (p.Cys551Trp) c.1626C>G (p.Cys542Trp) n.2204C>G n.2206C>G c.1974C>G (p.Cys658Trp) c.1743C>G (p.Cys581Trp) n.1989C>G | |
| 11 | g.77172834C>T | CA475794360 | MYO7A | c.1884C>T (p.Cys628=) c.248C>T c.1851C>T (p.Cys617=) c.1653C>T (p.Cys551=) c.1626C>T (p.Cys542=) n.2204C>T n.2206C>T c.1974C>T (p.Cys658=) c.1743C>T (p.Cys581=) n.1989C>T | |
| 11 | g.77172835C>A | CA381938503 | MYO7A | c.1885C>A (p.Gln629Lys) c.249C>A c.1852C>A (p.Gln618Lys) c.1654C>A (p.Gln552Lys) c.1627C>A (p.Gln543Lys) n.2205C>A n.2207C>A c.1975C>A (p.Gln659Lys) c.1744C>A (p.Gln582Lys) n.1990C>A | |
| 11 | g.77172835C= | CA1984110735 | MYO7A | c.1885C= (p.Gln629=) c.249C= c.1852C= (p.Gln618=) c.1654C= (p.Gln552=) c.1627C= (p.Gln543=) n.2205C= n.2207C= c.1975C= (p.Gln659=) c.1744C= (p.Gln582=) n.1990C= | |
| 11 | g.77172835C>G | CA381938505 | MYO7A | c.1885C>G (p.Gln629Glu) c.249C>G c.1852C>G (p.Gln618Glu) c.1654C>G (p.Gln552Glu) c.1627C>G (p.Gln543Glu) n.2205C>G n.2207C>G c.1975C>G (p.Gln659Glu) c.1744C>G (p.Gln582Glu) n.1990C>G | |
| 11 | g.77172835C>T | CA381938506 | MYO7A | c.1885C>T (p.Gln629Ter) c.249C>T c.1852C>T (p.Gln618Ter) c.1654C>T (p.Gln552Ter) c.1627C>T (p.Gln543Ter) n.2205C>T n.2207C>T c.1975C>T (p.Gln659Ter) c.1744C>T (p.Gln582Ter) n.1990C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.77172835_77172836dup | CA2615247894 | MYO7A | c.1885_1886dup (p.Gln629HisfsTer?) c.249_250dup c.1852_1853dup (p.Gln618HisfsTer?) c.1654_1655dup (p.Gln552HisfsTer?) c.1627_1628dup (p.Gln543HisfsTer?) n.2205_2206dup n.2207_2208dup c.1975_1976dup (p.Gln659HisfsTer?) c.1744_1745dup (p.Gln582HisfsTer?) n.1990_1991dup | gnomAD v4 |
| 11 | g.77172836A>C | CA381938508 | MYO7A | c.1886A>C (p.Gln629Pro) c.250A>C c.1853A>C (p.Gln618Pro) c.1655A>C (p.Gln552Pro) c.1628A>C (p.Gln543Pro) n.2206A>C n.2208A>C c.1976A>C (p.Gln659Pro) c.1745A>C (p.Gln582Pro) n.1991A>C | |
| 11 | g.77172836A>G | CA381938509 | MYO7A | c.1886A>G (p.Gln629Arg) c.250A>G c.1853A>G (p.Gln618Arg) c.1655A>G (p.Gln552Arg) c.1628A>G (p.Gln543Arg) n.2206A>G n.2208A>G c.1976A>G (p.Gln659Arg) c.1745A>G (p.Gln582Arg) n.1991A>G | |
| 11 | g.77172836A>T | CA381938511 | MYO7A | c.1886A>T (p.Gln629Leu) c.250A>T c.1853A>T (p.Gln618Leu) c.1655A>T (p.Gln552Leu) c.1628A>T (p.Gln543Leu) n.2206A>T n.2208A>T c.1976A>T (p.Gln659Leu) c.1745A>T (p.Gln582Leu) n.1991A>T | |
| 11 | g.77172837G>A | CA475794361 | MYO7A | c.1887G>A (p.Gln629=) c.251G>A c.1854G>A (p.Gln618=) c.1656G>A (p.Gln552=) c.1629G>A (p.Gln543=) n.2207G>A n.2209G>A c.1977G>A (p.Gln659=) c.1746G>A (p.Gln582=) n.1992G>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.77172837G>C | CA381938513 | MYO7A | c.1887G>C (p.Gln629His) c.251G>C c.1854G>C (p.Gln618His) c.1656G>C (p.Gln552His) c.1629G>C (p.Gln543His) n.2207G>C n.2209G>C c.1977G>C (p.Gln659His) c.1746G>C (p.Gln582His) n.1992G>C | |
| 11 | g.77172837G>T | CA381938514 | MYO7A | c.1887G>T (p.Gln629His) c.251G>T c.1854G>T (p.Gln618His) c.1656G>T (p.Gln552His) c.1629G>T (p.Gln543His) n.2207G>T n.2209G>T c.1977G>T (p.Gln659His) c.1746G>T (p.Gln582His) n.1992G>T | |
| 11 | g.77172838C>A | CA381938516 | MYO7A | c.1888C>A (p.Pro630Thr) c.252C>A c.1855C>A (p.Pro619Thr) c.1657C>A (p.Pro553Thr) c.1630C>A (p.Pro544Thr) n.2208C>A n.2210C>A c.1978C>A (p.Pro660Thr) c.1747C>A (p.Pro583Thr) n.1993C>A | gnomAD v4 |
| 11 | g.77172838C>G | CA381938517 | MYO7A | c.1888C>G (p.Pro630Ala) c.252C>G c.1855C>G (p.Pro619Ala) c.1657C>G (p.Pro553Ala) c.1630C>G (p.Pro544Ala) n.2208C>G n.2210C>G c.1978C>G (p.Pro660Ala) c.1747C>G (p.Pro583Ala) n.1993C>G | |
| 11 | g.77172838C>T | CA381938518 | MYO7A | c.1888C>T (p.Pro630Ser) c.252C>T c.1855C>T (p.Pro619Ser) c.1657C>T (p.Pro553Ser) c.1630C>T (p.Pro544Ser) n.2208C>T n.2210C>T c.1978C>T (p.Pro660Ser) c.1747C>T (p.Pro583Ser) n.1993C>T | |
| 11 | g.77172839C>A | CA381938524 | MYO7A | c.1889C>A (p.Pro630His) c.253C>A c.1856C>A (p.Pro619His) c.1658C>A (p.Pro553His) c.1631C>A (p.Pro544His) n.2209C>A n.2211C>A c.1979C>A (p.Pro660His) c.1748C>A (p.Pro583His) n.1994C>A | gnomAD v4 |
| 11 | g.77172839C>G | CA381938525 | MYO7A | c.1889C>G (p.Pro630Arg) c.253C>G c.1856C>G (p.Pro619Arg) c.1658C>G (p.Pro553Arg) c.1631C>G (p.Pro544Arg) n.2209C>G n.2211C>G c.1979C>G (p.Pro660Arg) c.1748C>G (p.Pro583Arg) n.1994C>G | |
| 11 | g.77172839C>T | CA381938521 | MYO7A | c.1889C>T (p.Pro630Leu) c.253C>T c.1856C>T (p.Pro619Leu) c.1658C>T (p.Pro553Leu) c.1631C>T (p.Pro544Leu) n.2209C>T n.2211C>T c.1979C>T (p.Pro660Leu) c.1748C>T (p.Pro583Leu) n.1994C>T | |
| 11 | g.77172840C>A | CA475794364 | MYO7A | c.1890C>A (p.Pro630=) c.254C>A c.1857C>A (p.Pro619=) c.1659C>A (p.Pro553=) c.1632C>A (p.Pro544=) n.2210C>A n.2212C>A c.1980C>A (p.Pro660=) c.1749C>A (p.Pro583=) n.1995C>A | ClinVar gnomAD v4 |
| 11 | g.77172840C= | CA1984110742 | MYO7A | c.1890C= (p.Pro630=) c.254C= c.1857C= (p.Pro619=) c.1659C= (p.Pro553=) c.1632C= (p.Pro544=) n.2210C= n.2212C= c.1980C= (p.Pro660=) c.1749C= (p.Pro583=) n.1995C= | |
| 11 | g.77172840C>G | CA224836155 | MYO7A | c.1890C>G (p.Pro630=) c.254C>G c.1857C>G (p.Pro619=) c.1659C>G (p.Pro553=) c.1632C>G (p.Pro544=) n.2210C>G n.2212C>G c.1980C>G (p.Pro660=) c.1749C>G (p.Pro583=) n.1995C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77172840C>T | CA475794366 | MYO7A | c.1890C>T (p.Pro630=) c.254C>T c.1857C>T (p.Pro619=) c.1659C>T (p.Pro553=) c.1632C>T (p.Pro544=) n.2210C>T n.2212C>T c.1980C>T (p.Pro660=) c.1749C>T (p.Pro583=) n.1995C>T | gnomAD v4 |
| 11 | g.77172843_77172845del | CA2739270690 | MYO7A | c.1893_1895del (p.Phe632del) c.257_259del c.1860_1862del (p.Phe621del) c.1662_1664del (p.Phe555del) c.1635_1637del (p.Phe546del) n.2213_2215del n.2215_2217del c.1983_1985del (p.Phe662del) c.1752_1754del (p.Phe585del) n.1998_2000del | ClinVar |
| 11 | g.77172841T>A | CA381938529 | MYO7A | c.1891T>A (p.Phe631Ile) c.255T>A c.1858T>A (p.Phe620Ile) c.1660T>A (p.Phe554Ile) c.1633T>A (p.Phe545Ile) n.2211T>A n.2213T>A c.1981T>A (p.Phe661Ile) c.1750T>A (p.Phe584Ile) n.1996T>A | |
| 11 | g.77172841T>C | CA381938527 | MYO7A | c.1891T>C (p.Phe631Leu) c.255T>C c.1858T>C (p.Phe620Leu) c.1660T>C (p.Phe554Leu) c.1633T>C (p.Phe545Leu) n.2211T>C n.2213T>C c.1981T>C (p.Phe661Leu) c.1750T>C (p.Phe584Leu) n.1996T>C | |
| 11 | g.77172841T>G | CA381938530 | MYO7A | c.1891T>G (p.Phe631Val) c.255T>G c.1858T>G (p.Phe620Val) c.1660T>G (p.Phe554Val) c.1633T>G (p.Phe545Val) n.2211T>G n.2213T>G c.1981T>G (p.Phe661Val) c.1750T>G (p.Phe584Val) n.1996T>G | |
| 11 | g.77172842T>A | CA381938532 | MYO7A | c.1892T>A (p.Phe631Tyr) c.256T>A c.1859T>A (p.Phe620Tyr) c.1661T>A (p.Phe554Tyr) c.1634T>A (p.Phe545Tyr) n.2212T>A n.2214T>A c.1982T>A (p.Phe661Tyr) c.1751T>A (p.Phe584Tyr) n.1997T>A | |
| 11 | g.77172842T>C | CA381938535 | MYO7A | c.1892T>C (p.Phe631Ser) c.256T>C c.1859T>C (p.Phe620Ser) c.1661T>C (p.Phe554Ser) c.1634T>C (p.Phe545Ser) n.2212T>C n.2214T>C c.1982T>C (p.Phe661Ser) c.1751T>C (p.Phe584Ser) n.1997T>C | |
| 11 | g.77172842T>G | CA381938533 | MYO7A | c.1892T>G (p.Phe631Cys) c.256T>G c.1859T>G (p.Phe620Cys) c.1661T>G (p.Phe554Cys) c.1634T>G (p.Phe545Cys) n.2212T>G n.2214T>G c.1982T>G (p.Phe661Cys) c.1751T>G (p.Phe584Cys) n.1997T>G | |
| 11 | g.77172843C>A | CA381938536 | MYO7A | c.1893C>A (p.Phe631Leu) c.257C>A c.1860C>A (p.Phe620Leu) c.1662C>A (p.Phe554Leu) c.1635C>A (p.Phe545Leu) n.2213C>A n.2215C>A c.1983C>A (p.Phe661Leu) c.1752C>A (p.Phe584Leu) n.1998C>A | |
| 11 | g.77172843C= | CA1984110744 | MYO7A | c.1893C= (p.Phe631=) c.257C= c.1860C= (p.Phe620=) c.1662C= (p.Phe554=) c.1635C= (p.Phe545=) n.2213C= n.2215C= c.1983C= (p.Phe661=) c.1752C= (p.Phe584=) n.1998C= | |
| 11 | g.77172843C>G | CA381938538 | MYO7A | c.1893C>G (p.Phe631Leu) c.257C>G c.1860C>G (p.Phe620Leu) c.1662C>G (p.Phe554Leu) c.1635C>G (p.Phe545Leu) n.2213C>G n.2215C>G c.1983C>G (p.Phe661Leu) c.1752C>G (p.Phe584Leu) n.1998C>G | |
| 11 | g.77172843C>T | CA475794369 | MYO7A | c.1893C>T (p.Phe631=) c.257C>T c.1860C>T (p.Phe620=) c.1662C>T (p.Phe554=) c.1635C>T (p.Phe545=) n.2213C>T n.2215C>T c.1983C>T (p.Phe661=) c.1752C>T (p.Phe584=) n.1998C>T | dbSNP gnomAD v2 |
| 11 | g.77172844T>A | CA381938540 | MYO7A | c.1894T>A (p.Phe632Ile) c.258T>A c.1861T>A (p.Phe621Ile) c.1663T>A (p.Phe555Ile) c.1636T>A (p.Phe546Ile) n.2214T>A n.2216T>A c.1984T>A (p.Phe662Ile) c.1753T>A (p.Phe585Ile) n.1999T>A | |
| 11 | g.77172844T>C | CA381938541 | MYO7A | c.1894T>C (p.Phe632Leu) c.258T>C c.1861T>C (p.Phe621Leu) c.1663T>C (p.Phe555Leu) c.1636T>C (p.Phe546Leu) n.2214T>C n.2216T>C c.1984T>C (p.Phe662Leu) c.1753T>C (p.Phe585Leu) n.1999T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77172844T>G | CA381938543 | MYO7A | c.1894T>G (p.Phe632Val) c.258T>G c.1861T>G (p.Phe621Val) c.1663T>G (p.Phe555Val) c.1636T>G (p.Phe546Val) n.2214T>G n.2216T>G c.1984T>G (p.Phe662Val) c.1753T>G (p.Phe585Val) n.1999T>G | |
| 11 | g.77172844T= | CA1984110747 | MYO7A | c.1894T= (p.Phe632=) c.258T= c.1861T= (p.Phe621=) c.1663T= (p.Phe555=) c.1636T= (p.Phe546=) n.2214T= n.2216T= c.1984T= (p.Phe662=) c.1753T= (p.Phe585=) n.1999T= | |
| 11 | g.77172845T>A | CA381938544 | MYO7A | c.1895T>A (p.Phe632Tyr) c.259T>A c.1862T>A (p.Phe621Tyr) c.1664T>A (p.Phe555Tyr) c.1637T>A (p.Phe546Tyr) n.2215T>A n.2217T>A c.1985T>A (p.Phe662Tyr) c.1754T>A (p.Phe585Tyr) n.2000T>A | |
| 11 | g.77172845T>C | CA381938545 | MYO7A | c.1895T>C (p.Phe632Ser) c.259T>C c.1862T>C (p.Phe621Ser) c.1664T>C (p.Phe555Ser) c.1637T>C (p.Phe546Ser) n.2215T>C n.2217T>C c.1985T>C (p.Phe662Ser) c.1754T>C (p.Phe585Ser) n.2000T>C | |
| 11 | g.77172845T>G | CA6197633 | MYO7A | c.1895T>G (p.Phe632Cys) c.259T>G c.1862T>G (p.Phe621Cys) c.1664T>G (p.Phe555Cys) c.1637T>G (p.Phe546Cys) n.2215T>G n.2217T>G c.1985T>G (p.Phe662Cys) c.1754T>G (p.Phe585Cys) n.2000T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77172845T= | CA1984110750 | MYO7A | c.1895T= (p.Phe632=) c.259T= c.1862T= (p.Phe621=) c.1664T= (p.Phe555=) c.1637T= (p.Phe546=) n.2215T= n.2217T= c.1985T= (p.Phe662=) c.1754T= (p.Phe585=) n.2000T= | |
| 11 | g.77172846T>A | CA381938547 | MYO7A | c.1896T>A (p.Phe632Leu) c.260T>A c.1863T>A (p.Phe621Leu) c.1665T>A (p.Phe555Leu) c.1638T>A (p.Phe546Leu) n.2216T>A n.2218T>A c.1986T>A (p.Phe662Leu) c.1755T>A (p.Phe585Leu) n.2001T>A | |
| 11 | g.77172846T>C | CA475794372 | MYO7A | c.1896T>C (p.Phe632=) c.260T>C c.1863T>C (p.Phe621=) c.1665T>C (p.Phe555=) c.1638T>C (p.Phe546=) n.2216T>C n.2218T>C c.1986T>C (p.Phe662=) c.1755T>C (p.Phe585=) n.2001T>C | dbSNP gnomAD v4 |
| 11 | g.77172846T>G | CA381938548 | MYO7A | c.1896T>G (p.Phe632Leu) c.260T>G c.1863T>G (p.Phe621Leu) c.1665T>G (p.Phe555Leu) c.1638T>G (p.Phe546Leu) n.2216T>G n.2218T>G c.1986T>G (p.Phe662Leu) c.1755T>G (p.Phe585Leu) n.2001T>G | |
| 11 | g.77172846T= | CA1984110757 | MYO7A | c.1896T= (p.Phe632=) c.260T= c.1863T= (p.Phe621=) c.1665T= (p.Phe555=) c.1638T= (p.Phe546=) n.2216T= n.2218T= c.1986T= (p.Phe662=) c.1755T= (p.Phe585=) n.2001T= | |
| 11 | g.77172847G>A | CA381938550 | MYO7A | c.1897G>A (p.Val633Met) c.261G>A c.1864G>A (p.Val622Met) c.1666G>A (p.Val556Met) c.1639G>A (p.Val547Met) n.2217G>A n.2219G>A c.1987G>A (p.Val663Met) c.1756G>A (p.Val586Met) n.2002G>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77172847G>C | CA381938551 | MYO7A | c.1897G>C (p.Val633Leu) c.261G>C c.1864G>C (p.Val622Leu) c.1666G>C (p.Val556Leu) c.1639G>C (p.Val547Leu) n.2217G>C n.2219G>C c.1987G>C (p.Val663Leu) c.1756G>C (p.Val586Leu) n.2002G>C | |
| 11 | g.77172847G= | CA1984110763 | MYO7A | c.1897G= (p.Val633=) c.261G= c.1864G= (p.Val622=) c.1666G= (p.Val556=) c.1639G= (p.Val547=) n.2217G= n.2219G= c.1987G= (p.Val663=) c.1756G= (p.Val586=) n.2002G= | |
| 11 | g.77172847G>T | CA381938552 | MYO7A | c.1897G>T (p.Val633Leu) c.261G>T c.1864G>T (p.Val622Leu) c.1666G>T (p.Val556Leu) c.1639G>T (p.Val547Leu) n.2217G>T n.2219G>T c.1987G>T (p.Val663Leu) c.1756G>T (p.Val586Leu) n.2002G>T | gnomAD v4 |
| 11 | g.77172848T>A | CA381938555 | MYO7A | c.1898T>A (p.Val633Glu) c.262T>A c.1865T>A (p.Val622Glu) c.1667T>A (p.Val556Glu) c.1640T>A (p.Val547Glu) n.2218T>A n.2220T>A c.1988T>A (p.Val663Glu) c.1757T>A (p.Val586Glu) n.2003T>A | |
| 11 | g.77172848T>C | CA381938554 | MYO7A | c.1898T>C (p.Val633Ala) c.262T>C c.1865T>C (p.Val622Ala) c.1667T>C (p.Val556Ala) c.1640T>C (p.Val547Ala) n.2218T>C n.2220T>C c.1988T>C (p.Val663Ala) c.1757T>C (p.Val586Ala) n.2003T>C | |
| 11 | g.77172848T>G | CA381938553 | MYO7A | c.1898T>G (p.Val633Gly) c.262T>G c.1865T>G (p.Val622Gly) c.1667T>G (p.Val556Gly) c.1640T>G (p.Val547Gly) n.2218T>G n.2220T>G c.1988T>G (p.Val663Gly) c.1757T>G (p.Val586Gly) n.2003T>G | |
| 11 | g.77172849G>A | CA475794375 | MYO7A | c.1899G>A (p.Val633=) c.263G>A c.1866G>A (p.Val622=) c.1668G>A (p.Val556=) c.1641G>A (p.Val547=) n.2219G>A n.2221G>A c.1989G>A (p.Val663=) c.1758G>A (p.Val586=) n.2004G>A | |
| 11 | g.77172849G>C | CA475794377 | MYO7A | c.1899G>C (p.Val633=) c.263G>C c.1866G>C (p.Val622=) c.1668G>C (p.Val556=) c.1641G>C (p.Val547=) n.2219G>C n.2221G>C c.1989G>C (p.Val663=) c.1758G>C (p.Val586=) n.2004G>C | |
| 11 | g.77172849G>T | CA475794378 | MYO7A | c.1899G>T (p.Val633=) c.263G>T c.1866G>T (p.Val622=) c.1668G>T (p.Val556=) c.1641G>T (p.Val547=) n.2219G>T n.2221G>T c.1989G>T (p.Val663=) c.1758G>T (p.Val586=) n.2004G>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.77172850C>A | CA475794379 | MYO7A | c.1900C>A (p.Arg634=) c.264C>A c.1867C>A (p.Arg623=) c.1669C>A (p.Arg557=) c.1642C>A (p.Arg548=) n.2220C>A n.2222C>A c.1990C>A (p.Arg664=) c.1759C>A (p.Arg587=) n.2005C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77172850C= | CA1984110777 | MYO7A | c.1900C= (p.Arg634=) c.264C= c.1867C= (p.Arg623=) c.1669C= (p.Arg557=) c.1642C= (p.Arg548=) n.2220C= n.2222C= c.1990C= (p.Arg664=) c.1759C= (p.Arg587=) n.2005C= | |
| 11 | g.77172850C>G | CA381938556 | MYO7A | c.1900C>G (p.Arg634Gly) c.264C>G c.1867C>G (p.Arg623Gly) c.1669C>G (p.Arg557Gly) c.1642C>G (p.Arg548Gly) n.2220C>G n.2222C>G c.1990C>G (p.Arg664Gly) c.1759C>G (p.Arg587Gly) n.2005C>G | |
| 11 | g.77172850C>T | CA278635 | MYO7A | c.1900C>T (p.Arg634Ter) c.264C>T c.1867C>T (p.Arg623Ter) c.1669C>T (p.Arg557Ter) c.1642C>T (p.Arg548Ter) n.2220C>T n.2222C>T c.1990C>T (p.Arg664Ter) c.1759C>T (p.Arg587Ter) n.2005C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77172851G>A | CA6197634 | MYO7A | c.1901G>A (p.Arg634Gln) c.265G>A c.1868G>A (p.Arg623Gln) c.1670G>A (p.Arg557Gln) c.1643G>A (p.Arg548Gln) n.2221G>A n.2223G>A c.1991G>A (p.Arg664Gln) c.1760G>A (p.Arg587Gln) n.2006G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77172851G>C | CA381938557 | MYO7A | c.1901G>C (p.Arg634Pro) c.265G>C c.1868G>C (p.Arg623Pro) c.1670G>C (p.Arg557Pro) c.1643G>C (p.Arg548Pro) n.2221G>C n.2223G>C c.1991G>C (p.Arg664Pro) c.1760G>C (p.Arg587Pro) n.2006G>C | |
| 11 | g.77172851G= | CA1984110789 | MYO7A | c.1901G= (p.Arg634=) c.265G= c.1868G= (p.Arg623=) c.1670G= (p.Arg557=) c.1643G= (p.Arg548=) n.2221G= n.2223G= c.1991G= (p.Arg664=) c.1760G= (p.Arg587=) n.2006G= | |
| 11 | g.77172851G>T | CA381938558 | MYO7A | c.1901G>T (p.Arg634Leu) c.265G>T c.1868G>T (p.Arg623Leu) c.1670G>T (p.Arg557Leu) c.1643G>T (p.Arg548Leu) n.2221G>T n.2223G>T c.1991G>T (p.Arg664Leu) c.1760G>T (p.Arg587Leu) n.2006G>T | gnomAD v4 |
| 11 | g.77172852A= | CA1984110801 | MYO7A | c.1902A= (p.Arg634=) c.266A= c.1869A= (p.Arg623=) c.1671A= (p.Arg557=) c.1644A= (p.Arg548=) n.2222A= n.2224A= c.1992A= (p.Arg664=) c.1761A= (p.Arg587=) n.2007A= | |
| 11 | g.77172852A>C | CA475794382 | MYO7A | c.1902A>C (p.Arg634=) c.266A>C c.1869A>C (p.Arg623=) c.1671A>C (p.Arg557=) c.1644A>C (p.Arg548=) n.2222A>C n.2224A>C c.1992A>C (p.Arg664=) c.1761A>C (p.Arg587=) n.2007A>C | |
| 11 | g.77172852A>G | CA475794383 | MYO7A | c.1902A>G (p.Arg634=) c.266A>G c.1869A>G (p.Arg623=) c.1671A>G (p.Arg557=) c.1644A>G (p.Arg548=) n.2222A>G n.2224A>G c.1992A>G (p.Arg664=) c.1761A>G (p.Arg587=) n.2007A>G | dbSNP |
| 11 | g.77172852A>T | CA475794385 | MYO7A | c.1902A>T (p.Arg634=) c.266A>T c.1869A>T (p.Arg623=) c.1671A>T (p.Arg557=) c.1644A>T (p.Arg548=) n.2222A>T n.2224A>T c.1992A>T (p.Arg664=) c.1761A>T (p.Arg587=) n.2007A>T | gnomAD v4 |
| 11 | g.77172853T>A | CA381938559 | MYO7A | c.1903T>A (p.Cys635Ser) c.267T>A c.1870T>A (p.Cys624Ser) c.1672T>A (p.Cys558Ser) c.1645T>A (p.Cys549Ser) n.2223T>A n.2225T>A c.1993T>A (p.Cys665Ser) c.1762T>A (p.Cys588Ser) n.2008T>A | |
| 11 | g.77172853T>C | CA183808 | MYO7A | c.1903T>C (p.Cys635Arg) c.267T>C c.1870T>C (p.Cys624Arg) c.1672T>C (p.Cys558Arg) c.1645T>C (p.Cys549Arg) n.2223T>C n.2225T>C c.1993T>C (p.Cys665Arg) c.1762T>C (p.Cys588Arg) n.2008T>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.77172853T>G | CA381938560 | MYO7A | c.1903T>G (p.Cys635Gly) c.267T>G c.1870T>G (p.Cys624Gly) c.1672T>G (p.Cys558Gly) c.1645T>G (p.Cys549Gly) n.2223T>G n.2225T>G c.1993T>G (p.Cys665Gly) c.1762T>G (p.Cys588Gly) n.2008T>G | |
| 11 | g.77172853T= | CA1984110807 | MYO7A | c.1903T= (p.Cys635=) c.267T= c.1870T= (p.Cys624=) c.1672T= (p.Cys558=) c.1645T= (p.Cys549=) n.2223T= n.2225T= c.1993T= (p.Cys665=) c.1762T= (p.Cys588=) n.2008T= | |
| 11 | g.77172854G>A | CA381938561 | MYO7A | c.1904G>A (p.Cys635Tyr) c.268G>A c.1871G>A (p.Cys624Tyr) c.1673G>A (p.Cys558Tyr) c.1646G>A (p.Cys549Tyr) n.2224G>A n.2226G>A c.1994G>A (p.Cys665Tyr) c.1763G>A (p.Cys588Tyr) n.2009G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77172854G>C | CA381938562 | MYO7A | c.1904G>C (p.Cys635Ser) c.268G>C c.1871G>C (p.Cys624Ser) c.1673G>C (p.Cys558Ser) c.1646G>C (p.Cys549Ser) n.2224G>C n.2226G>C c.1994G>C (p.Cys665Ser) c.1763G>C (p.Cys588Ser) n.2009G>C | |
| 11 | g.77172854G= | CA1984110815 | MYO7A | c.1904G= (p.Cys635=) c.268G= c.1871G= (p.Cys624=) c.1673G= (p.Cys558=) c.1646G= (p.Cys549=) n.2224G= n.2226G= c.1994G= (p.Cys665=) c.1763G= (p.Cys588=) n.2009G= | |
| 11 | g.77172854G>T | CA381938563 | MYO7A | c.1904G>T (p.Cys635Phe) c.268G>T c.1871G>T (p.Cys624Phe) c.1673G>T (p.Cys558Phe) c.1646G>T (p.Cys549Phe) n.2224G>T n.2226G>T c.1994G>T (p.Cys665Phe) c.1763G>T (p.Cys588Phe) n.2009G>T | gnomAD v4 |
| 11 | g.77172855C>A | CA381938564 | MYO7A | c.1905C>A (p.Cys635Ter) c.269C>A c.1872C>A (p.Cys624Ter) c.1674C>A (p.Cys558Ter) c.1647C>A (p.Cys549Ter) n.2225C>A n.2227C>A c.1995C>A (p.Cys665Ter) c.1764C>A (p.Cys588Ter) n.2010C>A | ClinVar dbSNP |
| 11 | g.77172855C= | CA1984110823 | MYO7A | c.1905C= (p.Cys635=) c.269C= c.1872C= (p.Cys624=) c.1674C= (p.Cys558=) c.1647C= (p.Cys549=) n.2225C= n.2227C= c.1995C= (p.Cys665=) c.1764C= (p.Cys588=) n.2010C= | |
| 11 | g.77172855C>G | CA381938565 | MYO7A | c.1905C>G (p.Cys635Trp) c.269C>G c.1872C>G (p.Cys624Trp) c.1674C>G (p.Cys558Trp) c.1647C>G (p.Cys549Trp) n.2225C>G n.2227C>G c.1995C>G (p.Cys665Trp) c.1764C>G (p.Cys588Trp) n.2010C>G | |
| 11 | g.77172855C>T | CA475794387 | MYO7A | c.1905C>T (p.Cys635=) c.269C>T c.1872C>T (p.Cys624=) c.1674C>T (p.Cys558=) c.1647C>T (p.Cys549=) n.2225C>T n.2227C>T c.1995C>T (p.Cys665=) c.1764C>T (p.Cys588=) n.2010C>T | gnomAD v4 |
| 11 | g.77172856A= | CA1984110831 | MYO7A | c.1906A= (p.Ile636=) c.270A= c.1873A= (p.Ile625=) c.1675A= (p.Ile559=) c.1648A= (p.Ile550=) n.2226A= n.2228A= c.1996A= (p.Ile666=) c.1765A= (p.Ile589=) n.2011A= | |
| 11 | g.77172856A>C | CA6197635 | MYO7A | c.1906A>C (p.Ile636Leu) c.270A>C c.1873A>C (p.Ile625Leu) c.1675A>C (p.Ile559Leu) c.1648A>C (p.Ile550Leu) n.2226A>C n.2228A>C c.1996A>C (p.Ile666Leu) c.1765A>C (p.Ile589Leu) n.2011A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77172856A>G | CA381938567 | MYO7A | c.1906A>G (p.Ile636Val) c.270A>G c.1873A>G (p.Ile625Val) c.1675A>G (p.Ile559Val) c.1648A>G (p.Ile550Val) n.2226A>G n.2228A>G c.1996A>G (p.Ile666Val) c.1765A>G (p.Ile589Val) n.2011A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77172856A>T | CA381938566 | MYO7A | c.1906A>T (p.Ile636Phe) c.270A>T c.1873A>T (p.Ile625Phe) c.1675A>T (p.Ile559Phe) c.1648A>T (p.Ile550Phe) n.2226A>T n.2228A>T c.1996A>T (p.Ile666Phe) c.1765A>T (p.Ile589Phe) n.2011A>T | |
| 11 | g.77172857T>A | CA381938568 | MYO7A | c.1907T>A (p.Ile636Asn) c.271T>A c.1874T>A (p.Ile625Asn) c.1676T>A (p.Ile559Asn) c.1649T>A (p.Ile550Asn) n.2227T>A n.2229T>A c.1997T>A (p.Ile666Asn) c.1766T>A (p.Ile589Asn) n.2012T>A | |
| 11 | g.77172857T>C | CA381938569 | MYO7A | c.1907T>C (p.Ile636Thr) c.271T>C c.1874T>C (p.Ile625Thr) c.1676T>C (p.Ile559Thr) c.1649T>C (p.Ile550Thr) n.2227T>C n.2229T>C c.1997T>C (p.Ile666Thr) c.1766T>C (p.Ile589Thr) n.2012T>C | gnomAD v4 |
| 11 | g.77172857T>G | CA381938570 | MYO7A | c.1907T>G (p.Ile636Ser) c.271T>G c.1874T>G (p.Ile625Ser) c.1676T>G (p.Ile559Ser) c.1649T>G (p.Ile550Ser) n.2227T>G n.2229T>G c.1997T>G (p.Ile666Ser) c.1766T>G (p.Ile589Ser) n.2012T>G | |
| 11 | g.77172858C>A | CA475794389 | MYO7A | c.1908C>A (p.Ile636=) c.272C>A c.1875C>A (p.Ile625=) c.1677C>A (p.Ile559=) c.1650C>A (p.Ile550=) n.2228C>A n.2230C>A c.1998C>A (p.Ile666=) c.1767C>A (p.Ile589=) n.2013C>A | gnomAD v4 |
| 11 | g.77172858C>G | CA381938571 | MYO7A | c.1908C>G (p.Ile636Met) c.272C>G c.1875C>G (p.Ile625Met) c.1677C>G (p.Ile559Met) c.1650C>G (p.Ile550Met) n.2228C>G n.2230C>G c.1998C>G (p.Ile666Met) c.1767C>G (p.Ile589Met) n.2013C>G | |
| 11 | g.77172858C>T | CA475794391 | MYO7A | c.1908C>T (p.Ile636=) c.272C>T c.1875C>T (p.Ile625=) c.1677C>T (p.Ile559=) c.1650C>T (p.Ile550=) n.2228C>T n.2230C>T c.1998C>T (p.Ile666=) c.1767C>T (p.Ile589=) n.2013C>T | gnomAD v4 |
| 11 | g.77172859A= | CA1984110842 | MYO7A | c.1909A= (p.Lys637=) c.273A= c.1876A= (p.Lys626=) c.1678A= (p.Lys560=) c.1651A= (p.Lys551=) n.2229A= n.2231A= c.1999A= (p.Lys667=) c.1768A= (p.Lys590=) n.2014A= | |
| 11 | g.77172859A>C | CA381938572 | MYO7A | c.1909A>C (p.Lys637Gln) c.273A>C c.1876A>C (p.Lys626Gln) c.1678A>C (p.Lys560Gln) c.1651A>C (p.Lys551Gln) n.2229A>C n.2231A>C c.1999A>C (p.Lys667Gln) c.1768A>C (p.Lys590Gln) n.2014A>C | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77172859A>G | CA381938573 | MYO7A | c.1909A>G (p.Lys637Glu) c.273A>G c.1876A>G (p.Lys626Glu) c.1678A>G (p.Lys560Glu) c.1651A>G (p.Lys551Glu) n.2229A>G n.2231A>G c.1999A>G (p.Lys667Glu) c.1768A>G (p.Lys590Glu) n.2014A>G | |
| 11 | g.77172859A>T | CA381938574 | MYO7A | c.1909A>T (p.Lys637Ter) c.273A>T c.1876A>T (p.Lys626Ter) c.1678A>T (p.Lys560Ter) c.1651A>T (p.Lys551Ter) n.2229A>T n.2231A>T c.1999A>T (p.Lys667Ter) c.1768A>T (p.Lys590Ter) n.2014A>T | |
| 11 | g.77172860A>C | CA381938575 | MYO7A | c.1910A>C (p.Lys637Thr) c.274A>C c.1877A>C (p.Lys626Thr) c.1679A>C (p.Lys560Thr) c.1652A>C (p.Lys551Thr) n.2230A>C n.2232A>C c.2000A>C (p.Lys667Thr) c.1769A>C (p.Lys590Thr) n.2015A>C | |
| 11 | g.77172860A>G | CA381938576 | MYO7A | c.1910A>G (p.Lys637Arg) c.274A>G c.1877A>G (p.Lys626Arg) c.1679A>G (p.Lys560Arg) c.1652A>G (p.Lys551Arg) n.2230A>G n.2232A>G c.2000A>G (p.Lys667Arg) c.1769A>G (p.Lys590Arg) n.2015A>G | gnomAD v4 |
| 11 | g.77172860A>T | CA381938577 | MYO7A | c.1910A>T (p.Lys637Met) c.274A>T c.1877A>T (p.Lys626Met) c.1679A>T (p.Lys560Met) c.1652A>T (p.Lys551Met) n.2230A>T n.2232A>T c.2000A>T (p.Lys667Met) c.1769A>T (p.Lys590Met) n.2015A>T | gnomAD v4 |
| 11 | g.77172861G>A | CA475794393 | MYO7A | c.1911G>A (p.Lys637=) c.275G>A c.1878G>A (p.Lys626=) c.1680G>A (p.Lys560=) c.1653G>A (p.Lys551=) n.2231G>A n.2233G>A c.2001G>A (p.Lys667=) c.1770G>A (p.Lys590=) n.2016G>A | ClinVar gnomAD v4 |
| 11 | g.77172861G>C | CA381938578 | MYO7A | c.1911G>C (p.Lys637Asn) c.275G>C c.1878G>C (p.Lys626Asn) c.1680G>C (p.Lys560Asn) c.1653G>C (p.Lys551Asn) n.2231G>C n.2233G>C c.2001G>C (p.Lys667Asn) c.1770G>C (p.Lys590Asn) n.2016G>C | |
| 11 | g.77172861G>T | CA381938579 | MYO7A | c.1911G>T (p.Lys637Asn) c.275G>T c.1878G>T (p.Lys626Asn) c.1680G>T (p.Lys560Asn) c.1653G>T (p.Lys551Asn) n.2231G>T n.2233G>T c.2001G>T (p.Lys667Asn) c.1770G>T (p.Lys590Asn) n.2016G>T | |
| 11 | g.77172862C>A | CA381938582 | MYO7A | c.1912C>A (p.Pro638Thr) c.276C>A c.1879C>A (p.Pro627Thr) c.1681C>A (p.Pro561Thr) c.1654C>A (p.Pro552Thr) n.2232C>A n.2234C>A c.2002C>A (p.Pro668Thr) c.1771C>A (p.Pro591Thr) n.2017C>A | gnomAD v4 |
| 11 | g.77172862C= | CA1984110849 | MYO7A | c.1912C= (p.Pro638=) c.276C= c.1879C= (p.Pro627=) c.1681C= (p.Pro561=) c.1654C= (p.Pro552=) n.2232C= n.2234C= c.2002C= (p.Pro668=) c.1771C= (p.Pro591=) n.2017C= | |
| 11 | g.77172862C>G | CA381938580 | MYO7A | c.1912C>G (p.Pro638Ala) c.276C>G c.1879C>G (p.Pro627Ala) c.1681C>G (p.Pro561Ala) c.1654C>G (p.Pro552Ala) n.2232C>G n.2234C>G c.2002C>G (p.Pro668Ala) c.1771C>G (p.Pro591Ala) n.2017C>G | |
| 11 | g.77172862C>T | CA381938581 | MYO7A | c.1912C>T (p.Pro638Ser) c.276C>T c.1879C>T (p.Pro627Ser) c.1681C>T (p.Pro561Ser) c.1654C>T (p.Pro552Ser) n.2232C>T n.2234C>T c.2002C>T (p.Pro668Ser) c.1771C>T (p.Pro591Ser) n.2017C>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77172863C>A | CA381938583 | MYO7A | c.1913C>A (p.Pro638His) c.277C>A c.1880C>A (p.Pro627His) c.1682C>A (p.Pro561His) c.1655C>A (p.Pro552His) n.2233C>A n.2235C>A c.2003C>A (p.Pro668His) c.1772C>A (p.Pro591His) n.2018C>A | gnomAD v4 |
| 11 | g.77172863C= | CA1984110853 | MYO7A | c.1913C= (p.Pro638=) c.277C= c.1880C= (p.Pro627=) c.1682C= (p.Pro561=) c.1655C= (p.Pro552=) n.2233C= n.2235C= c.2003C= (p.Pro668=) c.1772C= (p.Pro591=) n.2018C= | |
| 11 | g.77172863C>G | CA381938584 | MYO7A | c.1913C>G (p.Pro638Arg) c.277C>G c.1880C>G (p.Pro627Arg) c.1682C>G (p.Pro561Arg) c.1655C>G (p.Pro552Arg) n.2233C>G n.2235C>G c.2003C>G (p.Pro668Arg) c.1772C>G (p.Pro591Arg) n.2018C>G | |
| 11 | g.77172863C>T | CA381938585 | MYO7A | c.1913C>T (p.Pro638Leu) c.277C>T c.1880C>T (p.Pro627Leu) c.1682C>T (p.Pro561Leu) c.1655C>T (p.Pro552Leu) n.2233C>T n.2235C>T c.2003C>T (p.Pro668Leu) c.1772C>T (p.Pro591Leu) n.2018C>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77172864C>A | CA475794395 | MYO7A | c.1914C>A (p.Pro638=) c.278C>A c.1881C>A (p.Pro627=) c.1683C>A (p.Pro561=) c.1656C>A (p.Pro552=) n.2234C>A n.2236C>A c.2004C>A (p.Pro668=) c.1773C>A (p.Pro591=) n.2019C>A | gnomAD v4 |
| 11 | g.77172864C= | CA1984110856 | MYO7A | c.1914C= (p.Pro638=) c.278C= c.1881C= (p.Pro627=) c.1683C= (p.Pro561=) c.1656C= (p.Pro552=) n.2234C= n.2236C= c.2004C= (p.Pro668=) c.1773C= (p.Pro591=) n.2019C= | |
| 11 | g.77172864C>G | CA475794396 | MYO7A | c.1914C>G (p.Pro638=) c.278C>G c.1881C>G (p.Pro627=) c.1683C>G (p.Pro561=) c.1656C>G (p.Pro552=) n.2234C>G n.2236C>G c.2004C>G (p.Pro668=) c.1773C>G (p.Pro591=) n.2019C>G | |
| 11 | g.77172864C>T | CA475794397 | MYO7A | c.1914C>T (p.Pro638=) c.278C>T c.1881C>T (p.Pro627=) c.1683C>T (p.Pro561=) c.1656C>T (p.Pro552=) n.2234C>T n.2236C>T c.2004C>T (p.Pro668=) c.1773C>T (p.Pro591=) n.2019C>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77172865A>C | CA381938586 | MYO7A | c.1915A>C (p.Asn639His) c.279A>C c.1882A>C (p.Asn628His) c.1684A>C (p.Asn562His) c.1657A>C (p.Asn553His) n.2235A>C n.2237A>C c.2005A>C (p.Asn669His) c.1774A>C (p.Asn592His) n.2020A>C | |
| 11 | g.77172865A>G | CA381938587 | MYO7A | c.1915A>G (p.Asn639Asp) c.279A>G c.1882A>G (p.Asn628Asp) c.1684A>G (p.Asn562Asp) c.1657A>G (p.Asn553Asp) n.2235A>G n.2237A>G c.2005A>G (p.Asn669Asp) c.1774A>G (p.Asn592Asp) n.2020A>G | gnomAD v4 |
| 11 | g.77172865A>T | CA381938588 | MYO7A | c.1915A>T (p.Asn639Tyr) c.279A>T c.1882A>T (p.Asn628Tyr) c.1684A>T (p.Asn562Tyr) c.1657A>T (p.Asn553Tyr) n.2235A>T n.2237A>T c.2005A>T (p.Asn669Tyr) c.1774A>T (p.Asn592Tyr) n.2020A>T | |
| 11 | g.77172866A= | CA1984110868 | MYO7A | c.1916A= (p.Asn639=) c.280A= c.1883A= (p.Asn628=) c.1685A= (p.Asn562=) c.1658A= (p.Asn553=) n.2236A= n.2238A= c.2006A= (p.Asn669=) c.1775A= (p.Asn592=) n.2021A= | |
| 11 | g.77172866A>C | CA381938589 | MYO7A | c.1916A>C (p.Asn639Thr) c.280A>C c.1883A>C (p.Asn628Thr) c.1685A>C (p.Asn562Thr) c.1658A>C (p.Asn553Thr) n.2236A>C n.2238A>C c.2006A>C (p.Asn669Thr) c.1775A>C (p.Asn592Thr) n.2021A>C | |
| 11 | g.77172866A>G | CA6197636 | MYO7A | c.1916A>G (p.Asn639Ser) c.280A>G c.1883A>G (p.Asn628Ser) c.1685A>G (p.Asn562Ser) c.1658A>G (p.Asn553Ser) n.2236A>G n.2238A>G c.2006A>G (p.Asn669Ser) c.1775A>G (p.Asn592Ser) n.2021A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77172866A>T | CA381938590 | MYO7A | c.1916A>T (p.Asn639Ile) c.280A>T c.1883A>T (p.Asn628Ile) c.1685A>T (p.Asn562Ile) c.1658A>T (p.Asn553Ile) n.2236A>T n.2238A>T c.2006A>T (p.Asn669Ile) c.1775A>T (p.Asn592Ile) n.2021A>T | |
| 11 | g.77172867T>A | CA381938591 | MYO7A | c.1917T>A (p.Asn639Lys) c.281T>A c.1884T>A (p.Asn628Lys) c.1686T>A (p.Asn562Lys) c.1659T>A (p.Asn553Lys) n.2237T>A n.2239T>A c.2007T>A (p.Asn669Lys) c.1776T>A (p.Asn592Lys) n.2022T>A | gnomAD v4 |
| 11 | g.77172867T>C | CA475794402 | MYO7A | c.1917T>C (p.Asn639=) c.281T>C c.1884T>C (p.Asn628=) c.1686T>C (p.Asn562=) c.1659T>C (p.Asn553=) n.2237T>C n.2239T>C c.2007T>C (p.Asn669=) c.1776T>C (p.Asn592=) n.2022T>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.77172867T>G | CA381938592 | MYO7A | c.1917T>G (p.Asn639Lys) c.281T>G c.1884T>G (p.Asn628Lys) c.1686T>G (p.Asn562Lys) c.1659T>G (p.Asn553Lys) n.2237T>G n.2239T>G c.2007T>G (p.Asn669Lys) c.1776T>G (p.Asn592Lys) n.2022T>G | |
| 11 | g.77172867T= | CA1984110876 | MYO7A | c.1917T= (p.Asn639=) c.281T= c.1884T= (p.Asn628=) c.1686T= (p.Asn562=) c.1659T= (p.Asn553=) n.2237T= n.2239T= c.2007T= (p.Asn669=) c.1776T= (p.Asn592=) n.2022T= | |
| 11 | g.77172868G>A | CA381938595 | MYO7A | c.1918G>A (p.Glu640Lys) c.282G>A c.1885G>A (p.Glu629Lys) c.1687G>A (p.Glu563Lys) c.1660G>A (p.Glu554Lys) n.2238G>A n.2240G>A c.2008G>A (p.Glu670Lys) c.1777G>A (p.Glu593Lys) n.2023G>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77172868G>C | CA381938594 | MYO7A | c.1918G>C (p.Glu640Gln) c.282G>C c.1885G>C (p.Glu629Gln) c.1687G>C (p.Glu563Gln) c.1660G>C (p.Glu554Gln) n.2238G>C n.2240G>C c.2008G>C (p.Glu670Gln) c.1777G>C (p.Glu593Gln) n.2023G>C | |
| 11 | g.77172868G= | CA1984110880 | MYO7A | c.1918G= (p.Glu640=) c.282G= c.1885G= (p.Glu629=) c.1687G= (p.Glu563=) c.1660G= (p.Glu554=) n.2238G= n.2240G= c.2008G= (p.Glu670=) c.1777G= (p.Glu593=) n.2023G= | |
| 11 | g.77172868G>T | CA381938593 | MYO7A | c.1918G>T (p.Glu640Ter) c.282G>T c.1885G>T (p.Glu629Ter) c.1687G>T (p.Glu563Ter) c.1660G>T (p.Glu554Ter) n.2238G>T n.2240G>T c.2008G>T (p.Glu670Ter) c.1777G>T (p.Glu593Ter) n.2023G>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.77172869A= | CA1984110882 | MYO7A | c.1919A= (p.Glu640=) c.283A= c.1886A= (p.Glu629=) c.1688A= (p.Glu563=) c.1661A= (p.Glu554=) n.2239A= n.2241A= c.2009A= (p.Glu670=) c.1778A= (p.Glu593=) n.2024A= | |
| 11 | g.77172869A>C | CA381938596 | MYO7A | c.1919A>C (p.Glu640Ala) c.283A>C c.1886A>C (p.Glu629Ala) c.1688A>C (p.Glu563Ala) c.1661A>C (p.Glu554Ala) n.2239A>C n.2241A>C c.2009A>C (p.Glu670Ala) c.1778A>C (p.Glu593Ala) n.2024A>C | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77172869A>G | CA381938598 | MYO7A | c.1919A>G (p.Glu640Gly) c.283A>G c.1886A>G (p.Glu629Gly) c.1688A>G (p.Glu563Gly) c.1661A>G (p.Glu554Gly) n.2239A>G n.2241A>G c.2009A>G (p.Glu670Gly) c.1778A>G (p.Glu593Gly) n.2024A>G | |
| 11 | g.77172869A>T | CA381938597 | MYO7A | c.1919A>T (p.Glu640Val) c.283A>T c.1886A>T (p.Glu629Val) c.1688A>T (p.Glu563Val) c.1661A>T (p.Glu554Val) n.2239A>T n.2241A>T c.2009A>T (p.Glu670Val) c.1778A>T (p.Glu593Val) n.2024A>T | |
| 11 | g.77172870G>A | CA475794406 | MYO7A | c.1920G>A (p.Glu640=) c.284G>A c.1887G>A (p.Glu629=) c.1689G>A (p.Glu563=) c.1662G>A (p.Glu554=) n.2240G>A n.2242G>A c.2010G>A (p.Glu670=) c.1779G>A (p.Glu593=) n.2025G>A | |
| 11 | g.77172870G>C | CA381938599 | MYO7A | c.1920G>C (p.Glu640Asp) c.284G>C c.1887G>C (p.Glu629Asp) c.1689G>C (p.Glu563Asp) c.1662G>C (p.Glu554Asp) n.2240G>C n.2242G>C c.2010G>C (p.Glu670Asp) c.1779G>C (p.Glu593Asp) n.2025G>C | |
| 11 | g.77172870G>T | CA381938600 | MYO7A | c.1920G>T (p.Glu640Asp) c.284G>T c.1887G>T (p.Glu629Asp) c.1689G>T (p.Glu563Asp) c.1662G>T (p.Glu554Asp) n.2240G>T n.2242G>T c.2010G>T (p.Glu670Asp) c.1779G>T (p.Glu593Asp) n.2025G>T | gnomAD v4 |
| 11 | g.77172871T>A | CA224836174 | MYO7A | c.1921T>A (p.Phe641Ile) c.285T>A c.1888T>A (p.Phe630Ile) c.1690T>A (p.Phe564Ile) c.1663T>A (p.Phe555Ile) n.2241T>A n.2243T>A c.2011T>A (p.Phe671Ile) c.1780T>A (p.Phe594Ile) n.2026T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77172871T>C | CA381938601 | MYO7A | c.1921T>C (p.Phe641Leu) c.285T>C c.1888T>C (p.Phe630Leu) c.1690T>C (p.Phe564Leu) c.1663T>C (p.Phe555Leu) n.2241T>C n.2243T>C c.2011T>C (p.Phe671Leu) c.1780T>C (p.Phe594Leu) n.2026T>C | gnomAD v4 |
| 11 | g.77172871T>G | CA381938602 | MYO7A | c.1921T>G (p.Phe641Val) c.285T>G c.1888T>G (p.Phe630Val) c.1690T>G (p.Phe564Val) c.1663T>G (p.Phe555Val) n.2241T>G n.2243T>G c.2011T>G (p.Phe671Val) c.1780T>G (p.Phe594Val) n.2026T>G | |
| 11 | g.77172871T= | CA1984110885 | MYO7A | c.1921T= (p.Phe641=) c.285T= c.1888T= (p.Phe630=) c.1690T= (p.Phe564=) c.1663T= (p.Phe555=) n.2241T= n.2243T= c.2011T= (p.Phe671=) c.1780T= (p.Phe594=) n.2026T= | |
| 11 | g.77172872T>A | CA381938603 | MYO7A | c.1922T>A (p.Phe641Tyr) c.286T>A c.1889T>A (p.Phe630Tyr) c.1691T>A (p.Phe564Tyr) c.1664T>A (p.Phe555Tyr) n.2242T>A n.2244T>A c.2012T>A (p.Phe671Tyr) c.1781T>A (p.Phe594Tyr) n.2027T>A | |
| 11 | g.77172872T>C | CA381938604 | MYO7A | c.1922T>C (p.Phe641Ser) c.286T>C c.1889T>C (p.Phe630Ser) c.1691T>C (p.Phe564Ser) c.1664T>C (p.Phe555Ser) n.2242T>C n.2244T>C c.2012T>C (p.Phe671Ser) c.1781T>C (p.Phe594Ser) n.2027T>C | |
| 11 | g.77172872T>G | CA381938605 | MYO7A | c.1922T>G (p.Phe641Cys) c.286T>G c.1889T>G (p.Phe630Cys) c.1691T>G (p.Phe564Cys) c.1664T>G (p.Phe555Cys) n.2242T>G n.2244T>G c.2012T>G (p.Phe671Cys) c.1781T>G (p.Phe594Cys) n.2027T>G | |
| 11 | g.77172873C>A | CA381938606 | MYO7A | c.1923C>A (p.Phe641Leu) c.287C>A c.1890C>A (p.Phe630Leu) c.1692C>A (p.Phe564Leu) c.1665C>A (p.Phe555Leu) n.2243C>A n.2245C>A c.2013C>A (p.Phe671Leu) c.1782C>A (p.Phe594Leu) n.2028C>A | gnomAD v4 |
| 11 | g.77172873C>G | CA381938607 | MYO7A | c.1923C>G (p.Phe641Leu) c.287C>G c.1890C>G (p.Phe630Leu) c.1692C>G (p.Phe564Leu) c.1665C>G (p.Phe555Leu) n.2243C>G n.2245C>G c.2013C>G (p.Phe671Leu) c.1782C>G (p.Phe594Leu) n.2028C>G | |
| 11 | g.77172873C>T | CA475794408 | MYO7A | c.1923C>T (p.Phe641=) c.287C>T c.1890C>T (p.Phe630=) c.1692C>T (p.Phe564=) c.1665C>T (p.Phe555=) n.2243C>T n.2245C>T c.2013C>T (p.Phe671=) c.1782C>T (p.Phe594=) n.2028C>T | gnomAD v4 |
| 11 | g.77172875_77172883del | CA2695215048 | MYO7A | c.1925_1933del (p.Lys642_Pro644del) c.289_297del c.1892_1900del (p.Lys631_Pro633del) c.1694_1702del (p.Lys565_Pro567del) c.1667_1675del (p.Lys556_Pro558del) n.2245_2253del n.2247_2255del c.2015_2023del (p.Lys672_Pro674del) c.1784_1792del (p.Lys595_Pro597del) n.2030_2038del | |
| 11 | g.77172874A>C | CA381938608 | MYO7A | c.1924A>C (p.Lys642Gln) c.288A>C c.1891A>C (p.Lys631Gln) c.1693A>C (p.Lys565Gln) c.1666A>C (p.Lys556Gln) n.2244A>C n.2246A>C c.2014A>C (p.Lys672Gln) c.1783A>C (p.Lys595Gln) n.2029A>C | |
| 11 | g.77172874A>G | CA381938609 | MYO7A | c.1924A>G (p.Lys642Glu) c.288A>G c.1891A>G (p.Lys631Glu) c.1693A>G (p.Lys565Glu) c.1666A>G (p.Lys556Glu) n.2244A>G n.2246A>G c.2014A>G (p.Lys672Glu) c.1783A>G (p.Lys595Glu) n.2029A>G | gnomAD v4 |
| 11 | g.77172874A>T | CA381938610 | MYO7A | c.1924A>T (p.Lys642Ter) c.288A>T c.1891A>T (p.Lys631Ter) c.1693A>T (p.Lys565Ter) c.1666A>T (p.Lys556Ter) n.2244A>T n.2246A>T c.2014A>T (p.Lys672Ter) c.1783A>T (p.Lys595Ter) n.2029A>T | |
| 11 | g.77172875A>C | CA381938611 | MYO7A | c.1925A>C (p.Lys642Thr) c.289A>C c.1892A>C (p.Lys631Thr) c.1694A>C (p.Lys565Thr) c.1667A>C (p.Lys556Thr) n.2245A>C n.2247A>C c.2015A>C (p.Lys672Thr) c.1784A>C (p.Lys595Thr) n.2030A>C | |
| 11 | g.77172875A>G | CA381938613 | MYO7A | c.1925A>G (p.Lys642Arg) c.289A>G c.1892A>G (p.Lys631Arg) c.1694A>G (p.Lys565Arg) c.1667A>G (p.Lys556Arg) n.2245A>G n.2247A>G c.2015A>G (p.Lys672Arg) c.1784A>G (p.Lys595Arg) n.2030A>G | gnomAD v4 |
| 11 | g.77172875A>T | CA381938612 | MYO7A | c.1925A>T (p.Lys642Met) c.289A>T c.1892A>T (p.Lys631Met) c.1694A>T (p.Lys565Met) c.1667A>T (p.Lys556Met) n.2245A>T n.2247A>T c.2015A>T (p.Lys672Met) c.1784A>T (p.Lys595Met) n.2030A>T | |
| 11 | g.77172876G>A | CA475794410 | MYO7A | c.1926G>A (p.Lys642=) c.290G>A c.1893G>A (p.Lys631=) c.1695G>A (p.Lys565=) c.1668G>A (p.Lys556=) n.2246G>A n.2248G>A c.2016G>A (p.Lys672=) c.1785G>A (p.Lys595=) n.2031G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77172876G>C | CA381938614 | MYO7A | c.1926G>C (p.Lys642Asn) c.290G>C c.1893G>C (p.Lys631Asn) c.1695G>C (p.Lys565Asn) c.1668G>C (p.Lys556Asn) n.2246G>C n.2248G>C c.2016G>C (p.Lys672Asn) c.1785G>C (p.Lys595Asn) n.2031G>C | |
| 11 | g.77172876G= | CA1984110888 | MYO7A | c.1926G= (p.Lys642=) c.290G= c.1893G= (p.Lys631=) c.1695G= (p.Lys565=) c.1668G= (p.Lys556=) n.2246G= n.2248G= c.2016G= (p.Lys672=) c.1785G= (p.Lys595=) n.2031G= | |
| 11 | g.77172876G>T | CA381938615 | MYO7A | c.1926G>T (p.Lys642Asn) c.290G>T c.1893G>T (p.Lys631Asn) c.1695G>T (p.Lys565Asn) c.1668G>T (p.Lys556Asn) n.2246G>T n.2248G>T c.2016G>T (p.Lys672Asn) c.1785G>T (p.Lys595Asn) n.2031G>T | gnomAD v4 |
| 11 | g.77172877A>C | CA381938616 | MYO7A | c.1927A>C (p.Lys643Gln) c.291A>C c.1894A>C (p.Lys632Gln) c.1696A>C (p.Lys566Gln) c.1669A>C (p.Lys557Gln) n.2247A>C n.2249A>C c.2017A>C (p.Lys673Gln) c.1786A>C (p.Lys596Gln) n.2032A>C | |
| 11 | g.77172877A>G | CA381938617 | MYO7A | c.1927A>G (p.Lys643Glu) c.291A>G c.1894A>G (p.Lys632Glu) c.1696A>G (p.Lys566Glu) c.1669A>G (p.Lys557Glu) n.2247A>G n.2249A>G c.2017A>G (p.Lys673Glu) c.1786A>G (p.Lys596Glu) n.2032A>G | |
| 11 | g.77172877A>T | CA381938618 | MYO7A | c.1927A>T (p.Lys643Ter) c.291A>T c.1894A>T (p.Lys632Ter) c.1696A>T (p.Lys566Ter) c.1669A>T (p.Lys557Ter) n.2247A>T n.2249A>T c.2017A>T (p.Lys673Ter) c.1786A>T (p.Lys596Ter) n.2032A>T | |
| 11 | g.77172878A>C | CA381938619 | MYO7A | c.1928A>C (p.Lys643Thr) c.292A>C c.1895A>C (p.Lys632Thr) c.1697A>C (p.Lys566Thr) c.1670A>C (p.Lys557Thr) n.2248A>C n.2250A>C c.2018A>C (p.Lys673Thr) c.1787A>C (p.Lys596Thr) n.2033A>C | |
| 11 | g.77172878A>G | CA381938620 | MYO7A | c.1928A>G (p.Lys643Arg) c.292A>G c.1895A>G (p.Lys632Arg) c.1697A>G (p.Lys566Arg) c.1670A>G (p.Lys557Arg) n.2248A>G n.2250A>G c.2018A>G (p.Lys673Arg) c.1787A>G (p.Lys596Arg) n.2033A>G | gnomAD v4 |
| 11 | g.77172878A>T | CA381938621 | MYO7A | c.1928A>T (p.Lys643Met) c.292A>T c.1895A>T (p.Lys632Met) c.1697A>T (p.Lys566Met) c.1670A>T (p.Lys557Met) n.2248A>T n.2250A>T c.2018A>T (p.Lys673Met) c.1787A>T (p.Lys596Met) n.2033A>T | |
| 11 | g.77172879G>A | CA475794414 | MYO7A | c.1929G>A (p.Lys643=) c.293G>A c.1896G>A (p.Lys632=) c.1698G>A (p.Lys566=) c.1671G>A (p.Lys557=) n.2249G>A n.2251G>A c.2019G>A (p.Lys673=) c.1788G>A (p.Lys596=) n.2034G>A | gnomAD v4 |
| 11 | g.77172879G>C | CA381938622 | MYO7A | c.1929G>C (p.Lys643Asn) c.293G>C c.1896G>C (p.Lys632Asn) c.1698G>C (p.Lys566Asn) c.1671G>C (p.Lys557Asn) n.2249G>C n.2251G>C c.2019G>C (p.Lys673Asn) c.1788G>C (p.Lys596Asn) n.2034G>C | |
| 11 | g.77172879G= | CA1984110896 | MYO7A | c.1929G= (p.Lys643=) c.293G= c.1896G= (p.Lys632=) c.1698G= (p.Lys566=) c.1671G= (p.Lys557=) n.2249G= n.2251G= c.2019G= (p.Lys673=) c.1788G= (p.Lys596=) n.2034G= | |
| 11 | g.77172879G>T | CA381938623 | MYO7A | c.1929G>T (p.Lys643Asn) c.293G>T c.1896G>T (p.Lys632Asn) c.1698G>T (p.Lys566Asn) c.1671G>T (p.Lys557Asn) n.2249G>T n.2251G>T c.2019G>T (p.Lys673Asn) c.1788G>T (p.Lys596Asn) n.2034G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77172879dup | CA2580617512 | MYO7A | c.1929dup (p.Pro644AlafsTer?) c.293dup c.1896dup (p.Pro633AlafsTer?) c.1698dup (p.Pro567AlafsTer?) c.1671dup (p.Pro558AlafsTer?) n.2249dup n.2251dup c.2019dup (p.Pro674AlafsTer?) c.1788dup (p.Pro597AlafsTer?) n.2034dup | ClinVar |
| 11 | g.77172880C>A | CA381938626 | MYO7A | c.1930C>A (p.Pro644Thr) c.294C>A c.1897C>A (p.Pro633Thr) c.1699C>A (p.Pro567Thr) c.1672C>A (p.Pro558Thr) n.2250C>A n.2252C>A c.2020C>A (p.Pro674Thr) c.1789C>A (p.Pro597Thr) n.2035C>A | gnomAD v4 |
| 11 | g.77172880C>G | CA381938625 | MYO7A | c.1930C>G (p.Pro644Ala) c.294C>G c.1897C>G (p.Pro633Ala) c.1699C>G (p.Pro567Ala) c.1672C>G (p.Pro558Ala) n.2250C>G n.2252C>G c.2020C>G (p.Pro674Ala) c.1789C>G (p.Pro597Ala) n.2035C>G | |
| 11 | g.77172880C>T | CA381938624 | MYO7A | c.1930C>T (p.Pro644Ser) c.294C>T c.1897C>T (p.Pro633Ser) c.1699C>T (p.Pro567Ser) c.1672C>T (p.Pro558Ser) n.2250C>T n.2252C>T c.2020C>T (p.Pro674Ser) c.1789C>T (p.Pro597Ser) n.2035C>T | |
| 11 | g.77172881_77172882del | CA2580084911 | MYO7A | c.1931_1932del (p.Pro644HisfsTer?) c.295_296del c.1898_1899del (p.Pro633HisfsTer?) c.1700_1701del (p.Pro567HisfsTer?) c.1673_1674del (p.Pro558HisfsTer?) n.2251_2252del n.2253_2254del c.2021_2022del (p.Pro674HisfsTer?) c.1790_1791del (p.Pro597HisfsTer?) n.2036_2037del | ClinVar |
| 11 | g.77172881C>A | CA381938627 | MYO7A | c.1931C>A (p.Pro644His) c.295C>A c.1898C>A (p.Pro633His) c.1700C>A (p.Pro567His) c.1673C>A (p.Pro558His) n.2251C>A n.2253C>A c.2021C>A (p.Pro674His) c.1790C>A (p.Pro597His) n.2036C>A | gnomAD v4 |
| 11 | g.77172881C= | CA1984110904 | MYO7A | c.1931C= (p.Pro644=) c.295C= c.1898C= (p.Pro633=) c.1700C= (p.Pro567=) c.1673C= (p.Pro558=) n.2251C= n.2253C= c.2021C= (p.Pro674=) c.1790C= (p.Pro597=) n.2036C= | |
| 11 | g.77172881C>G | CA381938628 | MYO7A | c.1931C>G (p.Pro644Arg) c.295C>G c.1898C>G (p.Pro633Arg) c.1700C>G (p.Pro567Arg) c.1673C>G (p.Pro558Arg) n.2251C>G n.2253C>G c.2021C>G (p.Pro674Arg) c.1790C>G (p.Pro597Arg) n.2036C>G | |
| 11 | g.77172881C>T | CA381938629 | MYO7A | c.1931C>T (p.Pro644Leu) c.295C>T c.1898C>T (p.Pro633Leu) c.1700C>T (p.Pro567Leu) c.1673C>T (p.Pro558Leu) n.2251C>T n.2253C>T c.2021C>T (p.Pro674Leu) c.1790C>T (p.Pro597Leu) n.2036C>T | dbSNP gnomAD v2 |
| 11 | g.77172881_77172884dup | CA2695215049 | MYO7A | c.1931_1934dup (p.Met645IlefsTer?) c.295_298dup c.1898_1901dup (p.Met634IlefsTer?) c.1700_1703dup (p.Met568IlefsTer?) c.1673_1676dup (p.Met559IlefsTer?) n.2251_2254dup n.2253_2256dup c.2021_2024dup (p.Met675IlefsTer?) c.1790_1793dup (p.Met598IlefsTer?) n.2036_2039dup | |
| 11 | g.77172882C>A | CA475794417 | MYO7A | c.1932C>A (p.Pro644=) c.296C>A c.1899C>A (p.Pro633=) c.1701C>A (p.Pro567=) c.1674C>A (p.Pro558=) n.2252C>A n.2254C>A c.2022C>A (p.Pro674=) c.1791C>A (p.Pro597=) n.2037C>A | ClinVar gnomAD v4 |
| 11 | g.77172882C>G | CA475794418 | MYO7A | c.1932C>G (p.Pro644=) c.296C>G c.1899C>G (p.Pro633=) c.1701C>G (p.Pro567=) c.1674C>G (p.Pro558=) n.2252C>G n.2254C>G c.2022C>G (p.Pro674=) c.1791C>G (p.Pro597=) n.2037C>G | gnomAD v4 |
| 11 | g.77172882C>T | CA475794419 | MYO7A | c.1932C>T (p.Pro644=) c.296C>T c.1899C>T (p.Pro633=) c.1701C>T (p.Pro567=) c.1674C>T (p.Pro558=) n.2252C>T n.2254C>T c.2022C>T (p.Pro674=) c.1791C>T (p.Pro597=) n.2037C>T | gnomAD v4 |
| 11 | g.77172883A= | CA1984110907 | MYO7A | c.1933A= (p.Met645=) c.297A= c.1900A= (p.Met634=) c.1702A= (p.Met568=) c.1675A= (p.Met559=) n.2253A= n.2255A= c.2023A= (p.Met675=) c.1792A= (p.Met598=) n.2038A= | |
| 11 | g.77172883A>C | CA381938630 | MYO7A | c.1933A>C (p.Met645Leu) c.297A>C c.1900A>C (p.Met634Leu) c.1702A>C (p.Met568Leu) c.1675A>C (p.Met559Leu) n.2253A>C n.2255A>C c.2023A>C (p.Met675Leu) c.1792A>C (p.Met598Leu) n.2038A>C | |
| 11 | g.77172883A>G | CA381938631 | MYO7A | c.1933A>G (p.Met645Val) c.297A>G c.1900A>G (p.Met634Val) c.1702A>G (p.Met568Val) c.1675A>G (p.Met559Val) n.2253A>G n.2255A>G c.2023A>G (p.Met675Val) c.1792A>G (p.Met598Val) n.2038A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77172883A>T | CA381938632 | MYO7A | c.1933A>T (p.Met645Leu) c.297A>T c.1900A>T (p.Met634Leu) c.1702A>T (p.Met568Leu) c.1675A>T (p.Met559Leu) n.2253A>T n.2255A>T c.2023A>T (p.Met675Leu) c.1792A>T (p.Met598Leu) n.2038A>T | |
| 11 | g.77172884T>A | CA381938633 | MYO7A | c.1934T>A (p.Met645Lys) c.298T>A c.1901T>A (p.Met634Lys) c.1703T>A (p.Met568Lys) c.1676T>A (p.Met559Lys) n.2254T>A n.2256T>A c.2024T>A (p.Met675Lys) c.1793T>A (p.Met598Lys) n.2039T>A | gnomAD v4 |
| 11 | g.77172884T>C | CA381938634 | MYO7A | c.1934T>C (p.Met645Thr) c.298T>C c.1901T>C (p.Met634Thr) c.1703T>C (p.Met568Thr) c.1676T>C (p.Met559Thr) n.2254T>C n.2256T>C c.2024T>C (p.Met675Thr) c.1793T>C (p.Met598Thr) n.2039T>C | |
| 11 | g.77172884T>G | CA381938635 | MYO7A | c.1934T>G (p.Met645Arg) c.298T>G c.1901T>G (p.Met634Arg) c.1703T>G (p.Met568Arg) c.1676T>G (p.Met559Arg) n.2254T>G n.2256T>G c.2024T>G (p.Met675Arg) c.1793T>G (p.Met598Arg) n.2039T>G | gnomAD v4 |
| 11 | g.77172885G>A | CA381938636 | MYO7A | c.1935G>A (p.Met645Ile) c.299G>A c.1902G>A (p.Met634Ile) c.1704G>A (p.Met568Ile) c.1677G>A (p.Met559Ile) n.2255G>A n.2257G>A c.2025G>A (p.Met675Ile) c.1794G>A (p.Met598Ile) n.2040G>A | gnomAD v4 |
| 11 | g.77172885G>C | CA381938637 | MYO7A | c.1935G>C (p.Met645Ile) c.299G>C c.1902G>C (p.Met634Ile) c.1704G>C (p.Met568Ile) c.1677G>C (p.Met559Ile) n.2255G>C n.2257G>C c.2025G>C (p.Met675Ile) c.1794G>C (p.Met598Ile) n.2040G>C | |
| 11 | g.77172885G>T | CA381938638 | MYO7A | c.1935G>T (p.Met645Ile) c.299G>T c.1902G>T (p.Met634Ile) c.1704G>T (p.Met568Ile) c.1677G>T (p.Met559Ile) n.2255G>T n.2257G>T c.2025G>T (p.Met675Ile) c.1794G>T (p.Met598Ile) n.2040G>T | gnomAD v4 |
| 11 | g.77172886G>A | CA381938641 | MYO7A | c.1935+1G>A (n.1935+1G>A) c.1902+1G>A (n.1902+1G>A) c.1704+1G>A (n.1704+1G>A) c.1677+1G>A (n.1677+1G>A) n.2255+1G>A n.2257+1G>A c.2025+1G>A (n.2025+1G>A) c.1794+1G>A (n.1794+1G>A) n.2040+1G>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.77172886G>C | CA381938640 | MYO7A | c.1935+1G>C (n.1935+1G>C) c.1902+1G>C (n.1902+1G>C) c.1704+1G>C (n.1704+1G>C) c.1677+1G>C (n.1677+1G>C) n.2255+1G>C n.2257+1G>C c.2025+1G>C (n.2025+1G>C) c.1794+1G>C (n.1794+1G>C) n.2040+1G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77172886G= | CA1984110909 | MYO7A | c.1935+1G= (n.1935+1G=) c.1902+1G= (n.1902+1G=) c.1704+1G= (n.1704+1G=) c.1677+1G= (n.1677+1G=) n.2255+1G= n.2257+1G= c.2025+1G= (n.2025+1G=) c.1794+1G= (n.1794+1G=) n.2040+1G= | |
| 11 | g.77172886G>T | CA381938639 | MYO7A | c.1935+1G>T (n.1935+1G>T) c.1902+1G>T (n.1902+1G>T) c.1704+1G>T (n.1704+1G>T) c.1677+1G>T (n.1677+1G>T) n.2255+1G>T n.2257+1G>T c.2025+1G>T (n.2025+1G>T) c.1794+1G>T (n.1794+1G>T) n.2040+1G>T | gnomAD v4 |
| 11 | g.77172887T>A | CA381938642 | MYO7A | c.1935+2T>A (n.1935+2T>A) c.1902+2T>A (n.1902+2T>A) c.1704+2T>A (n.1704+2T>A) c.1677+2T>A (n.1677+2T>A) n.2255+2T>A n.2257+2T>A c.2025+2T>A (n.2025+2T>A) c.1794+2T>A (n.1794+2T>A) n.2040+2T>A | gnomAD v4 |
| 11 | g.77172887T>C | CA381938643 | MYO7A | c.1935+2T>C (n.1935+2T>C) c.1902+2T>C (n.1902+2T>C) c.1704+2T>C (n.1704+2T>C) c.1677+2T>C (n.1677+2T>C) n.2255+2T>C n.2257+2T>C c.2025+2T>C (n.2025+2T>C) c.1794+2T>C (n.1794+2T>C) n.2040+2T>C | ClinVar gnomAD v4 |
| 11 | g.77172887T>G | CA381938644 | MYO7A | c.1935+2T>G (n.1935+2T>G) c.1902+2T>G (n.1902+2T>G) c.1704+2T>G (n.1704+2T>G) c.1677+2T>G (n.1677+2T>G) n.2255+2T>G n.2257+2T>G c.2025+2T>G (n.2025+2T>G) c.1794+2T>G (n.1794+2T>G) n.2040+2T>G | |
| 11 | g.77172888G>A | CA1984110917 | MYO7A | c.1935+3G>A (n.1935+3G>A) c.1902+3G>A (n.1902+3G>A) c.1704+3G>A (n.1704+3G>A) c.1677+3G>A (n.1677+3G>A) n.2255+3G>A n.2257+3G>A c.2025+3G>A (n.2025+3G>A) c.1794+3G>A (n.1794+3G>A) n.2040+3G>A | dbSNP gnomAD v4 |
| 11 | g.77172888G= | CA1984110915 | MYO7A | c.1935+3G= (n.1935+3G=) c.1902+3G= (n.1902+3G=) c.1704+3G= (n.1704+3G=) c.1677+3G= (n.1677+3G=) n.2255+3G= n.2257+3G= c.2025+3G= (n.2025+3G=) c.1794+3G= (n.1794+3G=) n.2040+3G= | |
| 11 | g.77172889A>G | CA2615248247 | MYO7A | c.1935+4A>G (n.1935+4A>G) c.1902+4A>G (n.1902+4A>G) c.1704+4A>G (n.1704+4A>G) c.1677+4A>G (n.1677+4A>G) n.2255+4A>G n.2257+4A>G c.2025+4A>G (n.2025+4A>G) c.1794+4A>G (n.1794+4A>G) n.2040+4A>G | gnomAD v4 |
| 11 | g.77172889A>T | CA2695215050 | MYO7A | c.1935+4A>T (n.1935+4A>T) c.1902+4A>T (n.1902+4A>T) c.1704+4A>T (n.1704+4A>T) c.1677+4A>T (n.1677+4A>T) n.2255+4A>T n.2257+4A>T c.2025+4A>T (n.2025+4A>T) c.1794+4A>T (n.1794+4A>T) n.2040+4A>T | ClinVar |
| 11 | g.77172890G>T | CA2615248249 | MYO7A | c.1935+5G>T (n.1935+5G>T) c.1902+5G>T (n.1902+5G>T) c.1704+5G>T (n.1704+5G>T) c.1677+5G>T (n.1677+5G>T) n.2255+5G>T n.2257+5G>T c.2025+5G>T (n.2025+5G>T) c.1794+5G>T (n.1794+5G>T) n.2040+5G>T | gnomAD v4 |
| 11 | g.77172891T>C | CA680375293 | MYO7A | c.1935+6T>C (n.1935+6T>C) c.1902+6T>C (n.1902+6T>C) c.1704+6T>C (n.1704+6T>C) c.1677+6T>C (n.1677+6T>C) n.2255+6T>C n.2257+6T>C c.2025+6T>C (n.2025+6T>C) c.1794+6T>C (n.1794+6T>C) n.2040+6T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77172891T= | CA1984110920 | MYO7A | c.1935+6T= (n.1935+6T=) c.1902+6T= (n.1902+6T=) c.1704+6T= (n.1704+6T=) c.1677+6T= (n.1677+6T=) n.2255+6T= n.2257+6T= c.2025+6T= (n.2025+6T=) c.1794+6T= (n.1794+6T=) n.2040+6T= | |
| 11 | g.77172891_77172892insACA | CA2792769047 | MYO7A | c.1935+6_1935+7insACA (n.1935+6_1935+7insACA) c.1902+6_1902+7insACA (n.1902+6_1902+7insACA) c.1704+6_1704+7insACA (n.1704+6_1704+7insACA) c.1677+6_1677+7insACA (n.1677+6_1677+7insACA) n.2255+6_2255+7insACA n.2257+6_2257+7insACA c.2025+6_2025+7insACA (n.2025+6_2025+7insACA) c.1794+6_1794+7insACA (n.1794+6_1794+7insACA) n.2040+6_2040+7insACA | |
| 11 | g.77172892G>A | CA600344609 | MYO7A | c.1935+7G>A (n.1935+7G>A) c.1902+7G>A (n.1902+7G>A) c.1704+7G>A (n.1704+7G>A) c.1677+7G>A (n.1677+7G>A) n.2255+7G>A n.2257+7G>A c.2025+7G>A (n.2025+7G>A) c.1794+7G>A (n.1794+7G>A) n.2040+7G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77172892G= | CA1984110923 | MYO7A | c.1935+7G= (n.1935+7G=) c.1902+7G= (n.1902+7G=) c.1704+7G= (n.1704+7G=) c.1677+7G= (n.1677+7G=) n.2255+7G= n.2257+7G= c.2025+7G= (n.2025+7G=) c.1794+7G= (n.1794+7G=) n.2040+7G= | |
| 11 | g.77172892G>T | CA1984110928 | MYO7A | c.1935+7G>T (n.1935+7G>T) c.1902+7G>T (n.1902+7G>T) c.1704+7G>T (n.1704+7G>T) c.1677+7G>T (n.1677+7G>T) n.2255+7G>T n.2257+7G>T c.2025+7G>T (n.2025+7G>T) c.1794+7G>T (n.1794+7G>T) n.2040+7G>T | dbSNP gnomAD v4 |
| 11 | g.77172893del | CA2615248257 | MYO7A | c.1935+8del (n.1935+8del) c.1902+8del (n.1902+8del) c.1704+8del (n.1704+8del) c.1677+8del (n.1677+8del) n.2255+8del n.2257+8del c.2025+8del (n.2025+8del) c.1794+8del (n.1794+8del) n.2040+8del | gnomAD v4 |
| 11 | g.77172893G>A | CA600344611 | MYO7A | c.1935+8G>A (n.1935+8G>A) c.1902+8G>A (n.1902+8G>A) c.1704+8G>A (n.1704+8G>A) c.1677+8G>A (n.1677+8G>A) n.2255+8G>A n.2257+8G>A c.2025+8G>A (n.2025+8G>A) c.1794+8G>A (n.1794+8G>A) n.2040+8G>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77172893G= | CA1984110929 | MYO7A | c.1935+8G= (n.1935+8G=) c.1902+8G= (n.1902+8G=) c.1704+8G= (n.1704+8G=) c.1677+8G= (n.1677+8G=) n.2255+8G= n.2257+8G= c.2025+8G= (n.2025+8G=) c.1794+8G= (n.1794+8G=) n.2040+8G= | |
| 11 | g.77172893G>T | CA2615248269 | MYO7A | c.1935+8G>T (n.1935+8G>T) c.1902+8G>T (n.1902+8G>T) c.1704+8G>T (n.1704+8G>T) c.1677+8G>T (n.1677+8G>T) n.2255+8G>T n.2257+8G>T c.2025+8G>T (n.2025+8G>T) c.1794+8G>T (n.1794+8G>T) n.2040+8G>T | ClinVar gnomAD v4 |
| 11 | g.77172893_77172894delinsAA | CA2499221311 | MYO7A | c.1935+8_1935+9delinsAA (n.1935+8_1935+9delinsAA) c.1902+8_1902+9delinsAA (n.1902+8_1902+9delinsAA) c.1704+8_1704+9delinsAA (n.1704+8_1704+9delinsAA) c.1677+8_1677+9delinsAA (n.1677+8_1677+9delinsAA) n.2255+8_2255+9delinsAA n.2257+8_2257+9delinsAA c.2025+8_2025+9delinsAA (n.2025+8_2025+9delinsAA) c.1794+8_1794+9delinsAA (n.1794+8_1794+9delinsAA) n.2040+8_2040+9delinsAA | ClinVar dbSNP |
| 11 | g.77172894C>A | CA2615248274 | MYO7A | c.1935+9C>A (n.1935+9C>A) c.1902+9C>A (n.1902+9C>A) c.1704+9C>A (n.1704+9C>A) c.1677+9C>A (n.1677+9C>A) n.2255+9C>A n.2257+9C>A c.2025+9C>A (n.2025+9C>A) c.1794+9C>A (n.1794+9C>A) n.2040+9C>A | gnomAD v4 |
| 11 | g.77172894C= | CA1984110933 | MYO7A | c.1935+9C= (n.1935+9C=) c.1902+9C= (n.1902+9C=) c.1704+9C= (n.1704+9C=) c.1677+9C= (n.1677+9C=) n.2255+9C= n.2257+9C= c.2025+9C= (n.2025+9C=) c.1794+9C= (n.1794+9C=) n.2040+9C= | |
| 11 | g.77172894C>T | CA1984110932 | MYO7A | c.1935+9C>T (n.1935+9C>T) c.1902+9C>T (n.1902+9C>T) c.1704+9C>T (n.1704+9C>T) c.1677+9C>T (n.1677+9C>T) n.2255+9C>T n.2257+9C>T c.2025+9C>T (n.2025+9C>T) c.1794+9C>T (n.1794+9C>T) n.2040+9C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.77172895C>A | CA2615248279 | MYO7A | c.1935+10C>A (n.1935+10C>A) c.1902+10C>A (n.1902+10C>A) c.1704+10C>A (n.1704+10C>A) c.1677+10C>A (n.1677+10C>A) n.2255+10C>A n.2257+10C>A c.2025+10C>A (n.2025+10C>A) c.1794+10C>A (n.1794+10C>A) n.2040+10C>A | gnomAD v4 |
| 11 | g.77172895C= | CA1984110935 | MYO7A | c.1935+10C= (n.1935+10C=) c.1902+10C= (n.1902+10C=) c.1704+10C= (n.1704+10C=) c.1677+10C= (n.1677+10C=) n.2255+10C= n.2257+10C= c.2025+10C= (n.2025+10C=) c.1794+10C= (n.1794+10C=) n.2040+10C= | |
| 11 | g.77172895C>T | CA600344612 | MYO7A | c.1935+10C>T (n.1935+10C>T) c.1902+10C>T (n.1902+10C>T) c.1704+10C>T (n.1704+10C>T) c.1677+10C>T (n.1677+10C>T) n.2255+10C>T n.2257+10C>T c.2025+10C>T (n.2025+10C>T) c.1794+10C>T (n.1794+10C>T) n.2040+10C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77172896C>A | CA2615248288 | MYO7A | c.1935+11C>A (n.1935+11C>A) c.1902+11C>A (n.1902+11C>A) c.1704+11C>A (n.1704+11C>A) c.1677+11C>A (n.1677+11C>A) n.2255+11C>A n.2257+11C>A c.2025+11C>A (n.2025+11C>A) c.1794+11C>A (n.1794+11C>A) n.2040+11C>A | gnomAD v4 |
| 11 | g.77172897T>C | CA2615248291 | MYO7A | c.1935+12T>C (n.1935+12T>C) c.1902+12T>C (n.1902+12T>C) c.1704+12T>C (n.1704+12T>C) c.1677+12T>C (n.1677+12T>C) n.2255+12T>C n.2257+12T>C c.2025+12T>C (n.2025+12T>C) c.1794+12T>C (n.1794+12T>C) n.2040+12T>C | gnomAD v4 |
| 11 | g.77172898G>A | CA2615248292 | MYO7A | c.1935+13G>A (n.1935+13G>A) c.1902+13G>A (n.1902+13G>A) c.1704+13G>A (n.1704+13G>A) c.1677+13G>A (n.1677+13G>A) n.2255+13G>A n.2257+13G>A c.2025+13G>A (n.2025+13G>A) c.1794+13G>A (n.1794+13G>A) n.2040+13G>A | gnomAD v4 |
| 11 | g.77172899G>A | CA939770915 | MYO7A | c.1935+14G>A (n.1935+14G>A) c.1902+14G>A (n.1902+14G>A) c.1704+14G>A (n.1704+14G>A) c.1677+14G>A (n.1677+14G>A) n.2255+14G>A n.2257+14G>A c.2025+14G>A (n.2025+14G>A) c.1794+14G>A (n.1794+14G>A) n.2040+14G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77172899G= | CA1984110946 | MYO7A | c.1935+14G= (n.1935+14G=) c.1902+14G= (n.1902+14G=) c.1704+14G= (n.1704+14G=) c.1677+14G= (n.1677+14G=) n.2255+14G= n.2257+14G= c.2025+14G= (n.2025+14G=) c.1794+14G= (n.1794+14G=) n.2040+14G= | |
| 11 | g.77172899G>T | CA600344613 | MYO7A | c.1935+14G>T (n.1935+14G>T) c.1902+14G>T (n.1902+14G>T) c.1704+14G>T (n.1704+14G>T) c.1677+14G>T (n.1677+14G>T) n.2255+14G>T n.2257+14G>T c.2025+14G>T (n.2025+14G>T) c.1794+14G>T (n.1794+14G>T) n.2040+14G>T | dbSNP gnomAD v2 gnomAD v4 |