Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.77172745_77172751delinsCAGGGCG | CA1984110394 | MYO7A | c.1798-3_1801delinsCAGGGCG c.162-3_165delinsCAGGGCG c.1765-3_1768delinsCAGGGCG c.1567-3_1570delinsCAGGGCG c.1540-3_1543delinsCAGGGCG n.2118-3_2121delinsCAGGGCG n.2120-3_2123delinsCAGGGCG c.1888-3_1891delinsCAGGGCG c.1657-3_1660delinsCAGGGCG n.1903-3_1906delinsCAGGGCG | |
11 | g.77172745_77172751delinsGGCTGCT | CA918919102 | MYO7A | c.1798-3_1801delinsGGCTGCT c.162-3_165delinsGGCTGCT c.1765-3_1768delinsGGCTGCT c.1567-3_1570delinsGGCTGCT c.1540-3_1543delinsGGCTGCT n.2118-3_2121delinsGGCTGCT n.2120-3_2123delinsGGCTGCT c.1888-3_1891delinsGGCTGCT c.1657-3_1660delinsGGCTGCT n.1903-3_1906delinsGGCTGCT | dbSNP |
11 | g.77172751G>A | CA6197616 | MYO7A | c.1801G>A (p.Ala601Thr) c.165G>A c.1768G>A (p.Ala590Thr) c.1570G>A (p.Ala524Thr) c.1543G>A (p.Ala515Thr) n.2121G>A n.2123G>A c.1891G>A (p.Ala631Thr) c.1660G>A (p.Ala554Thr) n.1906G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77172751G>C | CA381938152 | MYO7A | c.1801G>C (p.Ala601Pro) c.165G>C c.1768G>C (p.Ala590Pro) c.1570G>C (p.Ala524Pro) c.1543G>C (p.Ala515Pro) n.2121G>C n.2123G>C c.1891G>C (p.Ala631Pro) c.1660G>C (p.Ala554Pro) n.1906G>C | |
11 | g.77172751G= | CA1984110419 | MYO7A | c.1801G= (p.Ala601=) c.165G= c.1768G= (p.Ala590=) c.1570G= (p.Ala524=) c.1543G= (p.Ala515=) n.2121G= n.2123G= c.1891G= (p.Ala631=) c.1660G= (p.Ala554=) n.1906G= | |
11 | g.77172751G>T | CA381938151 | MYO7A | c.1801G>T (p.Ala601Ser) c.165G>T c.1768G>T (p.Ala590Ser) c.1570G>T (p.Ala524Ser) c.1543G>T (p.Ala515Ser) n.2121G>T n.2123G>T c.1891G>T (p.Ala631Ser) c.1660G>T (p.Ala554Ser) n.1906G>T | gnomAD v4 |
11 | g.77172752C>A | CA381938157 | MYO7A | c.1802C>A (p.Ala601Asp) c.166C>A c.1769C>A (p.Ala590Asp) c.1571C>A (p.Ala524Asp) c.1544C>A (p.Ala515Asp) n.2122C>A n.2124C>A c.1892C>A (p.Ala631Asp) c.1661C>A (p.Ala554Asp) n.1907C>A | |
11 | g.77172752C= | CA1984110423 | MYO7A | c.1802C= (p.Ala601=) c.166C= c.1769C= (p.Ala590=) c.1571C= (p.Ala524=) c.1544C= (p.Ala515=) n.2122C= n.2124C= c.1892C= (p.Ala631=) c.1661C= (p.Ala554=) n.1907C= | |
11 | g.77172752C>G | CA381938158 | MYO7A | c.1802C>G (p.Ala601Gly) c.166C>G c.1769C>G (p.Ala590Gly) c.1571C>G (p.Ala524Gly) c.1544C>G (p.Ala515Gly) n.2122C>G n.2124C>G c.1892C>G (p.Ala631Gly) c.1661C>G (p.Ala554Gly) n.1907C>G | gnomAD v4 |
11 | g.77172752C>T | CA6197617 | MYO7A | c.1802C>T (p.Ala601Val) c.166C>T c.1769C>T (p.Ala590Val) c.1571C>T (p.Ala524Val) c.1544C>T (p.Ala515Val) n.2122C>T n.2124C>T c.1892C>T (p.Ala631Val) c.1661C>T (p.Ala554Val) n.1907C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77172753C>A | CA475794280 | MYO7A | c.1803C>A (p.Ala601=) c.167C>A c.1770C>A (p.Ala590=) c.1572C>A (p.Ala524=) c.1545C>A (p.Ala515=) n.2123C>A n.2125C>A c.1893C>A (p.Ala631=) c.1662C>A (p.Ala554=) n.1908C>A | gnomAD v4 |
11 | g.77172753C= | CA1984110432 | MYO7A | c.1803C= (p.Ala601=) c.167C= c.1770C= (p.Ala590=) c.1572C= (p.Ala524=) c.1545C= (p.Ala515=) n.2123C= n.2125C= c.1893C= (p.Ala631=) c.1662C= (p.Ala554=) n.1908C= | |
11 | g.77172753C>G | CA475794281 | MYO7A | c.1803C>G (p.Ala601=) c.167C>G c.1770C>G (p.Ala590=) c.1572C>G (p.Ala524=) c.1545C>G (p.Ala515=) n.2123C>G n.2125C>G c.1893C>G (p.Ala631=) c.1662C>G (p.Ala554=) n.1908C>G | gnomAD v4 |
11 | g.77172753C>T | CA6197618 | MYO7A | c.1803C>T (p.Ala601=) c.167C>T c.1770C>T (p.Ala590=) c.1572C>T (p.Ala524=) c.1545C>T (p.Ala515=) n.2123C>T n.2125C>T c.1893C>T (p.Ala631=) c.1662C>T (p.Ala554=) n.1908C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.77172754del | CA2573147691 | MYO7A | c.1804del (p.Glu602ArgfsTer20) c.168del c.1771del (p.Glu591ArgfsTer20) c.1573del (p.Glu525ArgfsTer20) c.1546del (p.Glu516ArgfsTer20) n.2124del n.2126del c.1894del (p.Glu632ArgfsTer20) c.1663del (p.Glu555ArgfsTer20) n.1909del | ClinVar dbSNP |
11 | g.77172754G>A | CA224836024 | MYO7A | c.1804G>A (p.Glu602Lys) c.168G>A c.1771G>A (p.Glu591Lys) c.1573G>A (p.Glu525Lys) c.1546G>A (p.Glu516Lys) n.2124G>A n.2126G>A c.1894G>A (p.Glu632Lys) c.1663G>A (p.Glu555Lys) n.1909G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77172754G>C | CA381938163 | MYO7A | c.1804G>C (p.Glu602Gln) c.168G>C c.1771G>C (p.Glu591Gln) c.1573G>C (p.Glu525Gln) c.1546G>C (p.Glu516Gln) n.2124G>C n.2126G>C c.1894G>C (p.Glu632Gln) c.1663G>C (p.Glu555Gln) n.1909G>C | gnomAD v4 |
11 | g.77172754G= | CA1984110435 | MYO7A | c.1804G= (p.Glu602=) c.168G= c.1771G= (p.Glu591=) c.1573G= (p.Glu525=) c.1546G= (p.Glu516=) n.2124G= n.2126G= c.1894G= (p.Glu632=) c.1663G= (p.Glu555=) n.1909G= | |
11 | g.77172754G>T | CA381938170 | MYO7A | c.1804G>T (p.Glu602Ter) c.168G>T c.1771G>T (p.Glu591Ter) c.1573G>T (p.Glu525Ter) c.1546G>T (p.Glu516Ter) n.2124G>T n.2126G>T c.1894G>T (p.Glu632Ter) c.1663G>T (p.Glu555Ter) n.1909G>T | gnomAD v4 |
11 | g.77172755A>C | CA381938173 | MYO7A | c.1805A>C (p.Glu602Ala) c.169A>C c.1772A>C (p.Glu591Ala) c.1574A>C (p.Glu525Ala) c.1547A>C (p.Glu516Ala) n.2125A>C n.2127A>C c.1895A>C (p.Glu632Ala) c.1664A>C (p.Glu555Ala) n.1910A>C | |
11 | g.77172755A>G | CA381938174 | MYO7A | c.1805A>G (p.Glu602Gly) c.169A>G c.1772A>G (p.Glu591Gly) c.1574A>G (p.Glu525Gly) c.1547A>G (p.Glu516Gly) n.2125A>G n.2127A>G c.1895A>G (p.Glu632Gly) c.1664A>G (p.Glu555Gly) n.1910A>G | gnomAD v4 |
11 | g.77172755A>T | CA381938177 | MYO7A | c.1805A>T (p.Glu602Val) c.169A>T c.1772A>T (p.Glu591Val) c.1574A>T (p.Glu525Val) c.1547A>T (p.Glu516Val) n.2125A>T n.2127A>T c.1895A>T (p.Glu632Val) c.1664A>T (p.Glu555Val) n.1910A>T | gnomAD v4 |
11 | g.77172756G>A | CA475794282 | MYO7A | c.1806G>A (p.Glu602=) c.170G>A c.1773G>A (p.Glu591=) c.1575G>A (p.Glu525=) c.1548G>A (p.Glu516=) n.2126G>A n.2128G>A c.1896G>A (p.Glu632=) c.1665G>A (p.Glu555=) n.1911G>A | |
11 | g.77172756G>C | CA381938179 | MYO7A | c.1806G>C (p.Glu602Asp) c.170G>C c.1773G>C (p.Glu591Asp) c.1575G>C (p.Glu525Asp) c.1548G>C (p.Glu516Asp) n.2126G>C n.2128G>C c.1896G>C (p.Glu632Asp) c.1665G>C (p.Glu555Asp) n.1911G>C | gnomAD v4 |
11 | g.77172756G>T | CA381938180 | MYO7A | c.1806G>T (p.Glu602Asp) c.170G>T c.1773G>T (p.Glu591Asp) c.1575G>T (p.Glu525Asp) c.1548G>T (p.Glu516Asp) n.2126G>T n.2128G>T c.1896G>T (p.Glu632Asp) c.1665G>T (p.Glu555Asp) n.1911G>T | gnomAD v4 |
11 | g.77172757A= | CA1984110439 | MYO7A | c.1807A= (p.Thr603=) c.171A= c.1774A= (p.Thr592=) c.1576A= (p.Thr526=) c.1549A= (p.Thr517=) n.2127A= n.2129A= c.1897A= (p.Thr633=) c.1666A= (p.Thr556=) n.1912A= | |
11 | g.77172757A>C | CA381938186 | MYO7A | c.1807A>C (p.Thr603Pro) c.171A>C c.1774A>C (p.Thr592Pro) c.1576A>C (p.Thr526Pro) c.1549A>C (p.Thr517Pro) n.2127A>C n.2129A>C c.1897A>C (p.Thr633Pro) c.1666A>C (p.Thr556Pro) n.1912A>C | |
11 | g.77172757A>G | CA381938184 | MYO7A | c.1807A>G (p.Thr603Ala) c.171A>G c.1774A>G (p.Thr592Ala) c.1576A>G (p.Thr526Ala) c.1549A>G (p.Thr517Ala) n.2127A>G n.2129A>G c.1897A>G (p.Thr633Ala) c.1666A>G (p.Thr556Ala) n.1912A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77172757A>T | CA381938182 | MYO7A | c.1807A>T (p.Thr603Ser) c.171A>T c.1774A>T (p.Thr592Ser) c.1576A>T (p.Thr526Ser) c.1549A>T (p.Thr517Ser) n.2127A>T n.2129A>T c.1897A>T (p.Thr633Ser) c.1666A>T (p.Thr556Ser) n.1912A>T | gnomAD v4 |
11 | g.77172758C>A | CA381938189 | MYO7A | c.1808C>A (p.Thr603Asn) c.172C>A c.1775C>A (p.Thr592Asn) c.1577C>A (p.Thr526Asn) c.1550C>A (p.Thr517Asn) n.2128C>A n.2130C>A c.1898C>A (p.Thr633Asn) c.1667C>A (p.Thr556Asn) n.1913C>A | gnomAD v4 |
11 | g.77172758C>G | CA381938193 | MYO7A | c.1808C>G (p.Thr603Ser) c.172C>G c.1775C>G (p.Thr592Ser) c.1577C>G (p.Thr526Ser) c.1550C>G (p.Thr517Ser) n.2128C>G n.2130C>G c.1898C>G (p.Thr633Ser) c.1667C>G (p.Thr556Ser) n.1913C>G | |
11 | g.77172758C>T | CA381938191 | MYO7A | c.1808C>T (p.Thr603Ile) c.172C>T c.1775C>T (p.Thr592Ile) c.1577C>T (p.Thr526Ile) c.1550C>T (p.Thr517Ile) n.2128C>T n.2130C>T c.1898C>T (p.Thr633Ile) c.1667C>T (p.Thr556Ile) n.1913C>T | gnomAD v4 |
11 | g.77172759del | CA2615247126 | MYO7A | c.1809del (p.Arg604GlyfsTer18) c.173del c.1776del (p.Arg593GlyfsTer18) c.1578del (p.Arg527GlyfsTer18) c.1551del (p.Arg518GlyfsTer18) n.2129del n.2131del c.1899del (p.Arg634GlyfsTer18) c.1668del (p.Arg557GlyfsTer18) n.1914del | gnomAD v4 |
11 | g.77172759C>A | CA475794283 | MYO7A | c.1809C>A (p.Thr603=) c.173C>A c.1776C>A (p.Thr592=) c.1578C>A (p.Thr526=) c.1551C>A (p.Thr517=) n.2129C>A n.2131C>A c.1899C>A (p.Thr633=) c.1668C>A (p.Thr556=) n.1914C>A | gnomAD v4 |
11 | g.77172759C>G | CA475794284 | MYO7A | c.1809C>G (p.Thr603=) c.173C>G c.1776C>G (p.Thr592=) c.1578C>G (p.Thr526=) c.1551C>G (p.Thr517=) n.2129C>G n.2131C>G c.1899C>G (p.Thr633=) c.1668C>G (p.Thr556=) n.1914C>G | ClinVar dbSNP |
11 | g.77172759C>T | CA475794285 | MYO7A | c.1809C>T (p.Thr603=) c.173C>T c.1776C>T (p.Thr592=) c.1578C>T (p.Thr526=) c.1551C>T (p.Thr517=) n.2129C>T n.2131C>T c.1899C>T (p.Thr633=) c.1668C>T (p.Thr556=) n.1914C>T | ClinVar gnomAD v4 |
11 | g.77172760A= | CA1984110442 | MYO7A | c.1810A= (p.Arg604=) c.174A= c.1777A= (p.Arg593=) c.1579A= (p.Arg527=) c.1552A= (p.Arg518=) n.2130A= n.2132A= c.1900A= (p.Arg634=) c.1669A= (p.Arg557=) n.1915A= | |
11 | g.77172760A>C | CA475794286 | MYO7A | c.1810A>C (p.Arg604=) c.174A>C c.1777A>C (p.Arg593=) c.1579A>C (p.Arg527=) c.1552A>C (p.Arg518=) n.2130A>C n.2132A>C c.1900A>C (p.Arg634=) c.1669A>C (p.Arg557=) n.1915A>C | |
11 | g.77172760A>G | CA381938196 | MYO7A | c.1810A>G (p.Arg604Gly) c.174A>G c.1777A>G (p.Arg593Gly) c.1579A>G (p.Arg527Gly) c.1552A>G (p.Arg518Gly) n.2130A>G n.2132A>G c.1900A>G (p.Arg634Gly) c.1669A>G (p.Arg557Gly) n.1915A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77172760A>T | CA381938198 | MYO7A | c.1810A>T (p.Arg604Trp) c.174A>T c.1777A>T (p.Arg593Trp) c.1579A>T (p.Arg527Trp) c.1552A>T (p.Arg518Trp) n.2130A>T n.2132A>T c.1900A>T (p.Arg634Trp) c.1669A>T (p.Arg557Trp) n.1915A>T | |
11 | g.77172761G>A | CA381938200 | MYO7A | c.1811G>A (p.Arg604Lys) c.175G>A c.1778G>A (p.Arg593Lys) c.1580G>A (p.Arg527Lys) c.1553G>A (p.Arg518Lys) n.2131G>A n.2133G>A c.1901G>A (p.Arg634Lys) c.1670G>A (p.Arg557Lys) n.1916G>A | gnomAD v4 |
11 | g.77172761G>C | CA381938203 | MYO7A | c.1811G>C (p.Arg604Thr) c.175G>C c.1778G>C (p.Arg593Thr) c.1580G>C (p.Arg527Thr) c.1553G>C (p.Arg518Thr) n.2131G>C n.2133G>C c.1901G>C (p.Arg634Thr) c.1670G>C (p.Arg557Thr) n.1916G>C | |
11 | g.77172761G>T | CA381938204 | MYO7A | c.1811G>T (p.Arg604Met) c.175G>T c.1778G>T (p.Arg593Met) c.1580G>T (p.Arg527Met) c.1553G>T (p.Arg518Met) n.2131G>T n.2133G>T c.1901G>T (p.Arg634Met) c.1670G>T (p.Arg557Met) n.1916G>T | gnomAD v4 |
11 | g.77172762G>A | CA6197619 | MYO7A | c.1812G>A (p.Arg604=) c.176G>A c.1779G>A (p.Arg593=) c.1581G>A (p.Arg527=) c.1554G>A (p.Arg518=) n.2132G>A n.2134G>A c.1902G>A (p.Arg634=) c.1671G>A (p.Arg557=) n.1917G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77172762G>C | CA381938205 | MYO7A | c.1812G>C (p.Arg604Ser) c.176G>C c.1779G>C (p.Arg593Ser) c.1581G>C (p.Arg527Ser) c.1554G>C (p.Arg518Ser) n.2132G>C n.2134G>C c.1902G>C (p.Arg634Ser) c.1671G>C (p.Arg557Ser) n.1917G>C | |
11 | g.77172762G= | CA1984110445 | MYO7A | c.1812G= (p.Arg604=) c.176G= c.1779G= (p.Arg593=) c.1581G= (p.Arg527=) c.1554G= (p.Arg518=) n.2132G= n.2134G= c.1902G= (p.Arg634=) c.1671G= (p.Arg557=) n.1917G= | |
11 | g.77172762G>T | CA381938206 | MYO7A | c.1812G>T (p.Arg604Ser) c.176G>T c.1779G>T (p.Arg593Ser) c.1581G>T (p.Arg527Ser) c.1554G>T (p.Arg518Ser) n.2132G>T n.2134G>T c.1902G>T (p.Arg634Ser) c.1671G>T (p.Arg557Ser) n.1917G>T | gnomAD v4 |
11 | g.77172763A= | CA1984110447 | MYO7A | c.1813A= (p.Lys605=) c.177A= c.1780A= (p.Lys594=) c.1582A= (p.Lys528=) c.1555A= (p.Lys519=) n.2133A= n.2135A= c.1903A= (p.Lys635=) c.1672A= (p.Lys558=) n.1918A= | |
11 | g.77172763A>C | CA381938207 | MYO7A | c.1813A>C (p.Lys605Gln) c.177A>C c.1780A>C (p.Lys594Gln) c.1582A>C (p.Lys528Gln) c.1555A>C (p.Lys519Gln) n.2133A>C n.2135A>C c.1903A>C (p.Lys635Gln) c.1672A>C (p.Lys558Gln) n.1918A>C | |
11 | g.77172763A>G | CA6197620 | MYO7A | c.1813A>G (p.Lys605Glu) c.177A>G c.1780A>G (p.Lys594Glu) c.1582A>G (p.Lys528Glu) c.1555A>G (p.Lys519Glu) n.2133A>G n.2135A>G c.1903A>G (p.Lys635Glu) c.1672A>G (p.Lys558Glu) n.1918A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77172763A>T | CA381938208 | MYO7A | c.1813A>T (p.Lys605Ter) c.177A>T c.1780A>T (p.Lys594Ter) c.1582A>T (p.Lys528Ter) c.1555A>T (p.Lys519Ter) n.2133A>T n.2135A>T c.1903A>T (p.Lys635Ter) c.1672A>T (p.Lys558Ter) n.1918A>T | gnomAD v4 |
11 | g.77172764A= | CA1984110453 | MYO7A | c.1814A= (p.Lys605=) c.178A= c.1781A= (p.Lys594=) c.1583A= (p.Lys528=) c.1556A= (p.Lys519=) n.2134A= n.2136A= c.1904A= (p.Lys635=) c.1673A= (p.Lys558=) n.1919A= | |
11 | g.77172764A>C | CA381938211 | MYO7A | c.1814A>C (p.Lys605Thr) c.178A>C c.1781A>C (p.Lys594Thr) c.1583A>C (p.Lys528Thr) c.1556A>C (p.Lys519Thr) n.2134A>C n.2136A>C c.1904A>C (p.Lys635Thr) c.1673A>C (p.Lys558Thr) n.1919A>C | |
11 | g.77172764A>G | CA224836056 | MYO7A | c.1814A>G (p.Lys605Arg) c.178A>G c.1781A>G (p.Lys594Arg) c.1583A>G (p.Lys528Arg) c.1556A>G (p.Lys519Arg) n.2134A>G n.2136A>G c.1904A>G (p.Lys635Arg) c.1673A>G (p.Lys558Arg) n.1919A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77172764A>T | CA381938210 | MYO7A | c.1814A>T (p.Lys605Met) c.178A>T c.1781A>T (p.Lys594Met) c.1583A>T (p.Lys528Met) c.1556A>T (p.Lys519Met) n.2134A>T n.2136A>T c.1904A>T (p.Lys635Met) c.1673A>T (p.Lys558Met) n.1919A>T | |
11 | g.77172765G>A | CA475794287 | MYO7A | c.1815G>A (p.Lys605=) c.179G>A c.1782G>A (p.Lys594=) c.1584G>A (p.Lys528=) c.1557G>A (p.Lys519=) n.2135G>A n.2137G>A c.1905G>A (p.Lys635=) c.1674G>A (p.Lys558=) n.1920G>A | ClinVar gnomAD v4 |
11 | g.77172765G>C | CA381938214 | MYO7A | c.1815G>C (p.Lys605Asn) c.179G>C c.1782G>C (p.Lys594Asn) c.1584G>C (p.Lys528Asn) c.1557G>C (p.Lys519Asn) n.2135G>C n.2137G>C c.1905G>C (p.Lys635Asn) c.1674G>C (p.Lys558Asn) n.1920G>C | |
11 | g.77172765G>T | CA381938216 | MYO7A | c.1815G>T (p.Lys605Asn) c.179G>T c.1782G>T (p.Lys594Asn) c.1584G>T (p.Lys528Asn) c.1557G>T (p.Lys519Asn) n.2135G>T n.2137G>T c.1905G>T (p.Lys635Asn) c.1674G>T (p.Lys558Asn) n.1920G>T | gnomAD v4 |
11 | g.77172766C>A | CA381938219 | MYO7A | c.1816C>A (p.Arg606Ser) c.180C>A c.1783C>A (p.Arg595Ser) c.1585C>A (p.Arg529Ser) c.1558C>A (p.Arg520Ser) n.2136C>A n.2138C>A c.1906C>A (p.Arg636Ser) c.1675C>A (p.Arg559Ser) n.1921C>A | gnomAD v4 |
11 | g.77172766C= | CA1984110458 | MYO7A | c.1816C= (p.Arg606=) c.180C= c.1783C= (p.Arg595=) c.1585C= (p.Arg529=) c.1558C= (p.Arg520=) n.2136C= n.2138C= c.1906C= (p.Arg636=) c.1675C= (p.Arg559=) n.1921C= | |
11 | g.77172766C>G | CA381938221 | MYO7A | c.1816C>G (p.Arg606Gly) c.180C>G c.1783C>G (p.Arg595Gly) c.1585C>G (p.Arg529Gly) c.1558C>G (p.Arg520Gly) n.2136C>G n.2138C>G c.1906C>G (p.Arg636Gly) c.1675C>G (p.Arg559Gly) n.1921C>G | |
11 | g.77172766C>T | CA6197621 | MYO7A | c.1816C>T (p.Arg606Cys) c.180C>T c.1783C>T (p.Arg595Cys) c.1585C>T (p.Arg529Cys) c.1558C>T (p.Arg520Cys) n.2136C>T n.2138C>T c.1906C>T (p.Arg636Cys) c.1675C>T (p.Arg559Cys) n.1921C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77172767G>A | CA6197622 | MYO7A | c.1817G>A (p.Arg606His) c.181G>A c.1784G>A (p.Arg595His) c.1586G>A (p.Arg529His) c.1559G>A (p.Arg520His) n.2137G>A n.2139G>A c.1907G>A (p.Arg636His) c.1676G>A (p.Arg559His) n.1922G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77172767G>C | CA381938225 | MYO7A | c.1817G>C (p.Arg606Pro) c.181G>C c.1784G>C (p.Arg595Pro) c.1586G>C (p.Arg529Pro) c.1559G>C (p.Arg520Pro) n.2137G>C n.2139G>C c.1907G>C (p.Arg636Pro) c.1676G>C (p.Arg559Pro) n.1922G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.77172767G= | CA1984110464 | MYO7A | c.1817G= (p.Arg606=) c.181G= c.1784G= (p.Arg595=) c.1586G= (p.Arg529=) c.1559G= (p.Arg520=) n.2137G= n.2139G= c.1907G= (p.Arg636=) c.1676G= (p.Arg559=) n.1922G= | |
11 | g.77172767G>T | CA381938227 | MYO7A | c.1817G>T (p.Arg606Leu) c.181G>T c.1784G>T (p.Arg595Leu) c.1586G>T (p.Arg529Leu) c.1559G>T (p.Arg520Leu) n.2137G>T n.2139G>T c.1907G>T (p.Arg636Leu) c.1676G>T (p.Arg559Leu) n.1922G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77172768C>A | CA475794288 | MYO7A | c.1818C>A (p.Arg606=) c.182C>A c.1785C>A (p.Arg595=) c.1587C>A (p.Arg529=) c.1560C>A (p.Arg520=) n.2138C>A n.2140C>A c.1908C>A (p.Arg636=) c.1677C>A (p.Arg559=) n.1923C>A | dbSNP gnomAD v4 |
11 | g.77172768C= | CA1984110471 | MYO7A | c.1818C= (p.Arg606=) c.182C= c.1785C= (p.Arg595=) c.1587C= (p.Arg529=) c.1560C= (p.Arg520=) n.2138C= n.2140C= c.1908C= (p.Arg636=) c.1677C= (p.Arg559=) n.1923C= | |
11 | g.77172768C>G | CA475794289 | MYO7A | c.1818C>G (p.Arg606=) c.182C>G c.1785C>G (p.Arg595=) c.1587C>G (p.Arg529=) c.1560C>G (p.Arg520=) n.2138C>G n.2140C>G c.1908C>G (p.Arg636=) c.1677C>G (p.Arg559=) n.1923C>G | |
11 | g.77172768C>T | CA475794290 | MYO7A | c.1818C>T (p.Arg606=) c.182C>T c.1785C>T (p.Arg595=) c.1587C>T (p.Arg529=) c.1560C>T (p.Arg520=) n.2138C>T n.2140C>T c.1908C>T (p.Arg636=) c.1677C>T (p.Arg559=) n.1923C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.77172769T>A | CA381938231 | MYO7A | c.1819T>A (p.Ser607Thr) c.183T>A c.1786T>A (p.Ser596Thr) c.1588T>A (p.Ser530Thr) c.1561T>A (p.Ser521Thr) n.2139T>A n.2141T>A c.1909T>A (p.Ser637Thr) c.1678T>A (p.Ser560Thr) n.1924T>A | |
11 | g.77172769T>C | CA381938233 | MYO7A | c.1819T>C (p.Ser607Pro) c.183T>C c.1786T>C (p.Ser596Pro) c.1588T>C (p.Ser530Pro) c.1561T>C (p.Ser521Pro) n.2139T>C n.2141T>C c.1909T>C (p.Ser637Pro) c.1678T>C (p.Ser560Pro) n.1924T>C | |
11 | g.77172769T>G | CA381938234 | MYO7A | c.1819T>G (p.Ser607Ala) c.183T>G c.1786T>G (p.Ser596Ala) c.1588T>G (p.Ser530Ala) c.1561T>G (p.Ser521Ala) n.2139T>G n.2141T>G c.1909T>G (p.Ser637Ala) c.1678T>G (p.Ser560Ala) n.1924T>G | |
11 | g.77172770C>A | CA381938236 | MYO7A | c.1820C>A (p.Ser607Ter) c.184C>A c.1787C>A (p.Ser596Ter) c.1589C>A (p.Ser530Ter) c.1562C>A (p.Ser521Ter) n.2140C>A n.2142C>A c.1910C>A (p.Ser637Ter) c.1679C>A (p.Ser560Ter) n.1925C>A | ClinVar dbSNP gnomAD v4 |
11 | g.77172770C= | CA1984110479 | MYO7A | c.1820C= (p.Ser607=) c.184C= c.1787C= (p.Ser596=) c.1589C= (p.Ser530=) c.1562C= (p.Ser521=) n.2140C= n.2142C= c.1910C= (p.Ser637=) c.1679C= (p.Ser560=) n.1925C= | |
11 | g.77172770C>G | CA381938239 | MYO7A | c.1820C>G (p.Ser607Trp) c.184C>G c.1787C>G (p.Ser596Trp) c.1589C>G (p.Ser530Trp) c.1562C>G (p.Ser521Trp) n.2140C>G n.2142C>G c.1910C>G (p.Ser637Trp) c.1679C>G (p.Ser560Trp) n.1925C>G | gnomAD v4 |
11 | g.77172770C>T | CA6197623 | MYO7A | c.1820C>T (p.Ser607Leu) c.184C>T c.1787C>T (p.Ser596Leu) c.1589C>T (p.Ser530Leu) c.1562C>T (p.Ser521Leu) n.2140C>T n.2142C>T c.1910C>T (p.Ser637Leu) c.1679C>T (p.Ser560Leu) n.1925C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.77172771G>A | CA132219 | MYO7A | c.1821G>A (p.Ser607=) c.185G>A c.1788G>A (p.Ser596=) c.1590G>A (p.Ser530=) c.1563G>A (p.Ser521=) n.2141G>A n.2143G>A c.1911G>A (p.Ser637=) c.1680G>A (p.Ser560=) n.1926G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77172771G>C | CA475794292 | MYO7A | c.1821G>C (p.Ser607=) c.185G>C c.1788G>C (p.Ser596=) c.1590G>C (p.Ser530=) c.1563G>C (p.Ser521=) n.2141G>C n.2143G>C c.1911G>C (p.Ser637=) c.1680G>C (p.Ser560=) n.1926G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.77172771G= | CA1984110485 | MYO7A | c.1821G= (p.Ser607=) c.185G= c.1788G= (p.Ser596=) c.1590G= (p.Ser530=) c.1563G= (p.Ser521=) n.2141G= n.2143G= c.1911G= (p.Ser637=) c.1680G= (p.Ser560=) n.1926G= | |
11 | g.77172771G>T | CA475794291 | MYO7A | c.1821G>T (p.Ser607=) c.185G>T c.1788G>T (p.Ser596=) c.1590G>T (p.Ser530=) c.1563G>T (p.Ser521=) n.2141G>T n.2143G>T c.1911G>T (p.Ser637=) c.1680G>T (p.Ser560=) n.1926G>T | gnomAD v4 COSMIC |
11 | g.77172774_77172787dup | CA2615247322 | MYO7A | c.1824_1837dup (p.Gln613ProfsTer14) c.188_201dup c.1791_1804dup (p.Gln602ProfsTer14) c.1593_1606dup (p.Gln536ProfsTer14) c.1566_1579dup (p.Gln527ProfsTer14) n.2144_2157dup n.2146_2159dup c.1914_1927dup (p.Gln643ProfsTer14) c.1683_1696dup (p.Gln566ProfsTer14) n.1929_1942dup | gnomAD v4 |
11 | g.77172772C>A | CA6197624 | MYO7A | c.1822C>A (p.Pro608Thr) c.186C>A c.1789C>A (p.Pro597Thr) c.1591C>A (p.Pro531Thr) c.1564C>A (p.Pro522Thr) n.2142C>A n.2144C>A c.1912C>A (p.Pro638Thr) c.1681C>A (p.Pro561Thr) n.1927C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77172772C= | CA1984110492 | MYO7A | c.1822C= (p.Pro608=) c.186C= c.1789C= (p.Pro597=) c.1591C= (p.Pro531=) c.1564C= (p.Pro522=) n.2142C= n.2144C= c.1912C= (p.Pro638=) c.1681C= (p.Pro561=) n.1927C= | |
11 | g.77172772C>G | CA381938243 | MYO7A | c.1822C>G (p.Pro608Ala) c.186C>G c.1789C>G (p.Pro597Ala) c.1591C>G (p.Pro531Ala) c.1564C>G (p.Pro522Ala) n.2142C>G n.2144C>G c.1912C>G (p.Pro638Ala) c.1681C>G (p.Pro561Ala) n.1927C>G | |
11 | g.77172772C>T | CA381938246 | MYO7A | c.1822C>T (p.Pro608Ser) c.186C>T c.1789C>T (p.Pro597Ser) c.1591C>T (p.Pro531Ser) c.1564C>T (p.Pro522Ser) n.2142C>T n.2144C>T c.1912C>T (p.Pro638Ser) c.1681C>T (p.Pro561Ser) n.1927C>T | ClinVar dbSNP gnomAD v4 |
11 | g.77172773C>A | CA381938249 | MYO7A | c.1823C>A (p.Pro608His) c.187C>A c.1790C>A (p.Pro597His) c.1592C>A (p.Pro531His) c.1565C>A (p.Pro522His) n.2143C>A n.2145C>A c.1913C>A (p.Pro638His) c.1682C>A (p.Pro561His) n.1928C>A | gnomAD v4 |
11 | g.77172773C= | CA1984110495 | MYO7A | c.1823C= (p.Pro608=) c.187C= c.1790C= (p.Pro597=) c.1592C= (p.Pro531=) c.1565C= (p.Pro522=) n.2143C= n.2145C= c.1913C= (p.Pro638=) c.1682C= (p.Pro561=) n.1928C= | |
11 | g.77172773C>G | CA381938252 | MYO7A | c.1823C>G (p.Pro608Arg) c.187C>G c.1790C>G (p.Pro597Arg) c.1592C>G (p.Pro531Arg) c.1565C>G (p.Pro522Arg) n.2143C>G n.2145C>G c.1913C>G (p.Pro638Arg) c.1682C>G (p.Pro561Arg) n.1928C>G | |
11 | g.77172773C>T | CA381938255 | MYO7A | c.1823C>T (p.Pro608Leu) c.187C>T c.1790C>T (p.Pro597Leu) c.1592C>T (p.Pro531Leu) c.1565C>T (p.Pro522Leu) n.2143C>T n.2145C>T c.1913C>T (p.Pro638Leu) c.1682C>T (p.Pro561Leu) n.1928C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77172774C>A | CA475794293 | MYO7A | c.1824C>A (p.Pro608=) c.188C>A c.1791C>A (p.Pro597=) c.1593C>A (p.Pro531=) c.1566C>A (p.Pro522=) n.2144C>A n.2146C>A c.1914C>A (p.Pro638=) c.1683C>A (p.Pro561=) n.1929C>A | gnomAD v4 |
11 | g.77172774C>G | CA475794294 | MYO7A | c.1824C>G (p.Pro608=) c.188C>G c.1791C>G (p.Pro597=) c.1593C>G (p.Pro531=) c.1566C>G (p.Pro522=) n.2144C>G n.2146C>G c.1914C>G (p.Pro638=) c.1683C>G (p.Pro561=) n.1929C>G | ClinVar |
11 | g.77172774C>T | CA475794295 | MYO7A | c.1824C>T (p.Pro608=) c.188C>T c.1791C>T (p.Pro597=) c.1593C>T (p.Pro531=) c.1566C>T (p.Pro522=) n.2144C>T n.2146C>T c.1914C>T (p.Pro638=) c.1683C>T (p.Pro561=) n.1929C>T | ClinVar dbSNP gnomAD v4 |
11 | g.77172775A= | CA1984110500 | MYO7A | c.1825A= (p.Thr609=) c.189A= c.1792A= (p.Thr598=) c.1594A= (p.Thr532=) c.1567A= (p.Thr523=) n.2145A= n.2147A= c.1915A= (p.Thr639=) c.1684A= (p.Thr562=) n.1930A= | |
11 | g.77172775A>C | CA381938257 | MYO7A | c.1825A>C (p.Thr609Pro) c.189A>C c.1792A>C (p.Thr598Pro) c.1594A>C (p.Thr532Pro) c.1567A>C (p.Thr523Pro) n.2145A>C n.2147A>C c.1915A>C (p.Thr639Pro) c.1684A>C (p.Thr562Pro) n.1930A>C | |
11 | g.77172775A>G | CA381938258 | MYO7A | c.1825A>G (p.Thr609Ala) c.189A>G c.1792A>G (p.Thr598Ala) c.1594A>G (p.Thr532Ala) c.1567A>G (p.Thr523Ala) n.2145A>G n.2147A>G c.1915A>G (p.Thr639Ala) c.1684A>G (p.Thr562Ala) n.1930A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77172775A>T | CA381938260 | MYO7A | c.1825A>T (p.Thr609Ser) c.189A>T c.1792A>T (p.Thr598Ser) c.1594A>T (p.Thr532Ser) c.1567A>T (p.Thr523Ser) n.2145A>T n.2147A>T c.1915A>T (p.Thr639Ser) c.1684A>T (p.Thr562Ser) n.1930A>T | |
11 | g.77172776C>A | CA381938261 | MYO7A | c.1826C>A (p.Thr609Lys) c.190C>A c.1793C>A (p.Thr598Lys) c.1595C>A (p.Thr532Lys) c.1568C>A (p.Thr523Lys) n.2146C>A n.2148C>A c.1916C>A (p.Thr639Lys) c.1685C>A (p.Thr562Lys) n.1931C>A | gnomAD v4 |
11 | g.77172776C= | CA1984110504 | MYO7A | c.1826C= (p.Thr609=) c.190C= c.1793C= (p.Thr598=) c.1595C= (p.Thr532=) c.1568C= (p.Thr523=) n.2146C= n.2148C= c.1916C= (p.Thr639=) c.1685C= (p.Thr562=) n.1931C= | |
11 | g.77172776C>G | CA381938264 | MYO7A | c.1826C>G (p.Thr609Arg) c.190C>G c.1793C>G (p.Thr598Arg) c.1595C>G (p.Thr532Arg) c.1568C>G (p.Thr523Arg) n.2146C>G n.2148C>G c.1916C>G (p.Thr639Arg) c.1685C>G (p.Thr562Arg) n.1931C>G | |
11 | g.77172776C>T | CA381938265 | MYO7A | c.1826C>T (p.Thr609Ile) c.190C>T c.1793C>T (p.Thr598Ile) c.1595C>T (p.Thr532Ile) c.1568C>T (p.Thr523Ile) n.2146C>T n.2148C>T c.1916C>T (p.Thr639Ile) c.1685C>T (p.Thr562Ile) n.1931C>T | dbSNP gnomAD v4 |
11 | g.77172777A>C | CA475794296 | MYO7A | c.1827A>C (p.Thr609=) c.191A>C c.1794A>C (p.Thr598=) c.1596A>C (p.Thr532=) c.1569A>C (p.Thr523=) n.2147A>C n.2149A>C c.1917A>C (p.Thr639=) c.1686A>C (p.Thr562=) n.1932A>C | |
11 | g.77172777A>G | CA475794298 | MYO7A | c.1827A>G (p.Thr609=) c.191A>G c.1794A>G (p.Thr598=) c.1596A>G (p.Thr532=) c.1569A>G (p.Thr523=) n.2147A>G n.2149A>G c.1917A>G (p.Thr639=) c.1686A>G (p.Thr562=) n.1932A>G | ClinVar gnomAD v4 |
11 | g.77172777A>T | CA475794297 | MYO7A | c.1827A>T (p.Thr609=) c.191A>T c.1794A>T (p.Thr598=) c.1596A>T (p.Thr532=) c.1569A>T (p.Thr523=) n.2147A>T n.2149A>T c.1917A>T (p.Thr639=) c.1686A>T (p.Thr562=) n.1932A>T | |
11 | g.77172778C>A | CA381938272 | MYO7A | c.1828C>A (p.Leu610Ile) c.192C>A c.1795C>A (p.Leu599Ile) c.1597C>A (p.Leu533Ile) c.1570C>A (p.Leu524Ile) n.2148C>A n.2150C>A c.1918C>A (p.Leu640Ile) c.1687C>A (p.Leu563Ile) n.1933C>A | gnomAD v4 |
11 | g.77172778C= | CA1984110507 | MYO7A | c.1828C= (p.Leu610=) c.192C= c.1795C= (p.Leu599=) c.1597C= (p.Leu533=) c.1570C= (p.Leu524=) n.2148C= n.2150C= c.1918C= (p.Leu640=) c.1687C= (p.Leu563=) n.1933C= | |
11 | g.77172778C>G | CA381938271 | MYO7A | c.1828C>G (p.Leu610Val) c.192C>G c.1795C>G (p.Leu599Val) c.1597C>G (p.Leu533Val) c.1570C>G (p.Leu524Val) n.2148C>G n.2150C>G c.1918C>G (p.Leu640Val) c.1687C>G (p.Leu563Val) n.1933C>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77172778C>T | CA381938268 | MYO7A | c.1828C>T (p.Leu610Phe) c.192C>T c.1795C>T (p.Leu599Phe) c.1597C>T (p.Leu533Phe) c.1570C>T (p.Leu524Phe) n.2148C>T n.2150C>T c.1918C>T (p.Leu640Phe) c.1687C>T (p.Leu563Phe) n.1933C>T | gnomAD v4 |
11 | g.77172779T>A | CA381938275 | MYO7A | c.1829T>A (p.Leu610His) c.193T>A c.1796T>A (p.Leu599His) c.1598T>A (p.Leu533His) c.1571T>A (p.Leu524His) n.2149T>A n.2151T>A c.1919T>A (p.Leu640His) c.1688T>A (p.Leu563His) n.1934T>A | gnomAD v4 |
11 | g.77172779T>C | CA381938277 | MYO7A | c.1829T>C (p.Leu610Pro) c.193T>C c.1796T>C (p.Leu599Pro) c.1598T>C (p.Leu533Pro) c.1571T>C (p.Leu524Pro) n.2149T>C n.2151T>C c.1919T>C (p.Leu640Pro) c.1688T>C (p.Leu563Pro) n.1934T>C | gnomAD v4 |
11 | g.77172779T>G | CA381938279 | MYO7A | c.1829T>G (p.Leu610Arg) c.193T>G c.1796T>G (p.Leu599Arg) c.1598T>G (p.Leu533Arg) c.1571T>G (p.Leu524Arg) n.2149T>G n.2151T>G c.1919T>G (p.Leu640Arg) c.1688T>G (p.Leu563Arg) n.1934T>G | |
11 | g.77172779_77172782dup | CA2573147692 | MYO7A | c.1829_1832dup (p.Ser612Ter) c.193_196dup c.1796_1799dup (p.Ser601Ter) c.1598_1601dup (p.Ser535Ter) c.1571_1574dup (p.Ser526Ter) n.2149_2152dup n.2151_2154dup c.1919_1922dup (p.Ser642Ter) c.1688_1691dup (p.Ser565Ter) n.1934_1937dup | ClinVar dbSNP |
11 | g.77172780T>A | CA475794299 | MYO7A | c.1830T>A (p.Leu610=) c.194T>A c.1797T>A (p.Leu599=) c.1599T>A (p.Leu533=) c.1572T>A (p.Leu524=) n.2150T>A n.2152T>A c.1920T>A (p.Leu640=) c.1689T>A (p.Leu563=) n.1935T>A | |
11 | g.77172780T>C | CA475794300 | MYO7A | c.1830T>C (p.Leu610=) c.194T>C c.1797T>C (p.Leu599=) c.1599T>C (p.Leu533=) c.1572T>C (p.Leu524=) n.2150T>C n.2152T>C c.1920T>C (p.Leu640=) c.1689T>C (p.Leu563=) n.1935T>C | |
11 | g.77172780T>G | CA475794301 | MYO7A | c.1830T>G (p.Leu610=) c.194T>G c.1797T>G (p.Leu599=) c.1599T>G (p.Leu533=) c.1572T>G (p.Leu524=) n.2150T>G n.2152T>G c.1920T>G (p.Leu640=) c.1689T>G (p.Leu563=) n.1935T>G | |
11 | g.77172781A>C | CA381938282 | MYO7A | c.1831A>C (p.Ser611Arg) c.195A>C c.1798A>C (p.Ser600Arg) c.1600A>C (p.Ser534Arg) c.1573A>C (p.Ser525Arg) n.2151A>C n.2153A>C c.1921A>C (p.Ser641Arg) c.1690A>C (p.Ser564Arg) n.1936A>C | |
11 | g.77172781A>G | CA381938284 | MYO7A | c.1831A>G (p.Ser611Gly) c.195A>G c.1798A>G (p.Ser600Gly) c.1600A>G (p.Ser534Gly) c.1573A>G (p.Ser525Gly) n.2151A>G n.2153A>G c.1921A>G (p.Ser641Gly) c.1690A>G (p.Ser564Gly) n.1936A>G | gnomAD v4 |
11 | g.77172781A>T | CA381938287 | MYO7A | c.1831A>T (p.Ser611Cys) c.195A>T c.1798A>T (p.Ser600Cys) c.1600A>T (p.Ser534Cys) c.1573A>T (p.Ser525Cys) n.2151A>T n.2153A>T c.1921A>T (p.Ser641Cys) c.1690A>T (p.Ser564Cys) n.1936A>T | |
11 | g.77172784_77172786del | CA2695215042 | MYO7A | c.1834_1836del (p.Ser612del) c.198_200del c.1801_1803del (p.Ser601del) c.1603_1605del (p.Ser535del) c.1576_1578del (p.Ser526del) n.2154_2156del n.2156_2158del c.1924_1926del (p.Ser642del) c.1693_1695del (p.Ser565del) n.1939_1941del | |
11 | g.77172782G>A | CA6197625 | MYO7A | c.1832G>A (p.Ser611Asn) c.196G>A c.1799G>A (p.Ser600Asn) c.1601G>A (p.Ser534Asn) c.1574G>A (p.Ser525Asn) n.2152G>A n.2154G>A c.1922G>A (p.Ser641Asn) c.1691G>A (p.Ser564Asn) n.1937G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77172782G>C | CA381938290 | MYO7A | c.1832G>C (p.Ser611Thr) c.196G>C c.1799G>C (p.Ser600Thr) c.1601G>C (p.Ser534Thr) c.1574G>C (p.Ser525Thr) n.2152G>C n.2154G>C c.1922G>C (p.Ser641Thr) c.1691G>C (p.Ser564Thr) n.1937G>C | |
11 | g.77172782G= | CA1984110513 | MYO7A | c.1832G= (p.Ser611=) c.196G= c.1799G= (p.Ser600=) c.1601G= (p.Ser534=) c.1574G= (p.Ser525=) n.2152G= n.2154G= c.1922G= (p.Ser641=) c.1691G= (p.Ser564=) n.1937G= | |
11 | g.77172782G>T | CA381938291 | MYO7A | c.1832G>T (p.Ser611Ile) c.196G>T c.1799G>T (p.Ser600Ile) c.1601G>T (p.Ser534Ile) c.1574G>T (p.Ser525Ile) n.2152G>T n.2154G>T c.1922G>T (p.Ser641Ile) c.1691G>T (p.Ser564Ile) n.1937G>T | gnomAD v4 |
11 | g.77172783C>A | CA381938294 | MYO7A | c.1833C>A (p.Ser611Arg) c.197C>A c.1800C>A (p.Ser600Arg) c.1602C>A (p.Ser534Arg) c.1575C>A (p.Ser525Arg) n.2153C>A n.2155C>A c.1923C>A (p.Ser641Arg) c.1692C>A (p.Ser564Arg) n.1938C>A | gnomAD v4 |
11 | g.77172783C>G | CA381938296 | MYO7A | c.1833C>G (p.Ser611Arg) c.197C>G c.1800C>G (p.Ser600Arg) c.1602C>G (p.Ser534Arg) c.1575C>G (p.Ser525Arg) n.2153C>G n.2155C>G c.1923C>G (p.Ser641Arg) c.1692C>G (p.Ser564Arg) n.1938C>G | |
11 | g.77172783C>T | CA475794302 | MYO7A | c.1833C>T (p.Ser611=) c.197C>T c.1800C>T (p.Ser600=) c.1602C>T (p.Ser534=) c.1575C>T (p.Ser525=) n.2153C>T n.2155C>T c.1923C>T (p.Ser641=) c.1692C>T (p.Ser564=) n.1938C>T | gnomAD v4 |
11 | g.77172783_77172788del | CA2695215043 | MYO7A | c.1833_1838del (p.Ser611_Gln613delinsArg) c.197_202del c.1800_1805del (p.Ser600_Gln602delinsArg) c.1602_1607del (p.Ser534_Gln536delinsArg) c.1575_1580del (p.Ser525_Gln527delinsArg) n.2153_2158del n.2155_2160del c.1923_1928del (p.Ser641_Gln643delinsArg) c.1692_1697del (p.Ser564_Gln566delinsArg) n.1938_1943del | |
11 | g.77172783_77172788dup | CA278632 | MYO7A | c.1833_1838dup (p.Ser612_Gln613insHisSer) c.197_202dup c.1800_1805dup (p.Ser601_Gln602insHisSer) c.1602_1607dup (p.Ser535_Gln536insHisSer) c.1575_1580dup (p.Ser526_Gln527insHisSer) n.2153_2158dup n.2155_2160dup c.1923_1928dup (p.Ser642_Gln643insHisSer) c.1692_1697dup (p.Ser565_Gln566insHisSer) n.1938_1943dup | ClinVar dbSNP |
11 | g.77172784A>C | CA381938303 | MYO7A | c.1834A>C (p.Ser612Arg) c.198A>C c.1801A>C (p.Ser601Arg) c.1603A>C (p.Ser535Arg) c.1576A>C (p.Ser526Arg) n.2154A>C n.2156A>C c.1924A>C (p.Ser642Arg) c.1693A>C (p.Ser565Arg) n.1939A>C | |
11 | g.77172784A>G | CA381938302 | MYO7A | c.1834A>G (p.Ser612Gly) c.198A>G c.1801A>G (p.Ser601Gly) c.1603A>G (p.Ser535Gly) c.1576A>G (p.Ser526Gly) n.2154A>G n.2156A>G c.1924A>G (p.Ser642Gly) c.1693A>G (p.Ser565Gly) n.1939A>G | gnomAD v4 |
11 | g.77172784A>T | CA381938300 | MYO7A | c.1834A>T (p.Ser612Cys) c.198A>T c.1801A>T (p.Ser601Cys) c.1603A>T (p.Ser535Cys) c.1576A>T (p.Ser526Cys) n.2154A>T n.2156A>T c.1924A>T (p.Ser642Cys) c.1693A>T (p.Ser565Cys) n.1939A>T | |
11 | g.77172785G>A | CA381938304 | MYO7A | c.1835G>A (p.Ser612Asn) c.199G>A c.1802G>A (p.Ser601Asn) c.1604G>A (p.Ser535Asn) c.1577G>A (p.Ser526Asn) n.2155G>A n.2157G>A c.1925G>A (p.Ser642Asn) c.1694G>A (p.Ser565Asn) n.1940G>A | gnomAD v4 COSMIC |
11 | g.77172785G>C | CA381938308 | MYO7A | c.1835G>C (p.Ser612Thr) c.199G>C c.1802G>C (p.Ser601Thr) c.1604G>C (p.Ser535Thr) c.1577G>C (p.Ser526Thr) n.2155G>C n.2157G>C c.1925G>C (p.Ser642Thr) c.1694G>C (p.Ser565Thr) n.1940G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77172785G= | CA1984110534 | MYO7A | c.1835G= (p.Ser612=) c.199G= c.1802G= (p.Ser601=) c.1604G= (p.Ser535=) c.1577G= (p.Ser526=) n.2155G= n.2157G= c.1925G= (p.Ser642=) c.1694G= (p.Ser565=) n.1940G= | |
11 | g.77172785G>T | CA381938306 | MYO7A | c.1835G>T (p.Ser612Ile) c.199G>T c.1802G>T (p.Ser601Ile) c.1604G>T (p.Ser535Ile) c.1577G>T (p.Ser526Ile) n.2155G>T n.2157G>T c.1925G>T (p.Ser642Ile) c.1694G>T (p.Ser565Ile) n.1940G>T | gnomAD v4 |
11 | g.77172786C>A | CA381938310 | MYO7A | c.1836C>A (p.Ser612Arg) c.200C>A c.1803C>A (p.Ser601Arg) c.1605C>A (p.Ser535Arg) c.1578C>A (p.Ser526Arg) n.2156C>A n.2158C>A c.1926C>A (p.Ser642Arg) c.1695C>A (p.Ser565Arg) n.1941C>A | gnomAD v4 |
11 | g.77172786C>G | CA381938313 | MYO7A | c.1836C>G (p.Ser612Arg) c.200C>G c.1803C>G (p.Ser601Arg) c.1605C>G (p.Ser535Arg) c.1578C>G (p.Ser526Arg) n.2156C>G n.2158C>G c.1926C>G (p.Ser642Arg) c.1695C>G (p.Ser565Arg) n.1941C>G | gnomAD v4 |
11 | g.77172786C>T | CA475794303 | MYO7A | c.1836C>T (p.Ser612=) c.200C>T c.1803C>T (p.Ser601=) c.1605C>T (p.Ser535=) c.1578C>T (p.Ser526=) n.2156C>T n.2158C>T c.1926C>T (p.Ser642=) c.1695C>T (p.Ser565=) n.1941C>T | gnomAD v4 |
11 | g.77172787C>A | CA381938315 | MYO7A | c.1837C>A (p.Gln613Lys) c.201C>A c.1804C>A (p.Gln602Lys) c.1606C>A (p.Gln536Lys) c.1579C>A (p.Gln527Lys) n.2157C>A n.2159C>A c.1927C>A (p.Gln643Lys) c.1696C>A (p.Gln566Lys) n.1942C>A | gnomAD v4 |
11 | g.77172787C= | CA1984110540 | MYO7A | c.1837C= (p.Gln613=) c.201C= c.1804C= (p.Gln602=) c.1606C= (p.Gln536=) c.1579C= (p.Gln527=) n.2157C= n.2159C= c.1927C= (p.Gln643=) c.1696C= (p.Gln566=) n.1942C= | |
11 | g.77172787C>G | CA381938317 | MYO7A | c.1837C>G (p.Gln613Glu) c.201C>G c.1804C>G (p.Gln602Glu) c.1606C>G (p.Gln536Glu) c.1579C>G (p.Gln527Glu) n.2157C>G n.2159C>G c.1927C>G (p.Gln643Glu) c.1696C>G (p.Gln566Glu) n.1942C>G | gnomAD v4 |
11 | g.77172787C>T | CA381938319 | MYO7A | c.1837C>T (p.Gln613Ter) c.201C>T c.1804C>T (p.Gln602Ter) c.1606C>T (p.Gln536Ter) c.1579C>T (p.Gln527Ter) n.2157C>T n.2159C>T c.1927C>T (p.Gln643Ter) c.1696C>T (p.Gln566Ter) n.1942C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.77172788A= | CA1984110551 | MYO7A | c.1838A= (p.Gln613=) c.202A= c.1805A= (p.Gln602=) c.1607A= (p.Gln536=) c.1580A= (p.Gln527=) n.2158A= n.2160A= c.1928A= (p.Gln643=) c.1697A= (p.Gln566=) n.1943A= | |
11 | g.77172788A>C | CA381938321 | MYO7A | c.1838A>C (p.Gln613Pro) c.202A>C c.1805A>C (p.Gln602Pro) c.1607A>C (p.Gln536Pro) c.1580A>C (p.Gln527Pro) n.2158A>C n.2160A>C c.1928A>C (p.Gln643Pro) c.1697A>C (p.Gln566Pro) n.1943A>C | |
11 | g.77172788A>G | CA381938324 | MYO7A | c.1838A>G (p.Gln613Arg) c.202A>G c.1805A>G (p.Gln602Arg) c.1607A>G (p.Gln536Arg) c.1580A>G (p.Gln527Arg) n.2158A>G n.2160A>G c.1928A>G (p.Gln643Arg) c.1697A>G (p.Gln566Arg) n.1943A>G | ClinVar dbSNP gnomAD v4 |
11 | g.77172788A>T | CA381938325 | MYO7A | c.1838A>T (p.Gln613Leu) c.202A>T c.1805A>T (p.Gln602Leu) c.1607A>T (p.Gln536Leu) c.1580A>T (p.Gln527Leu) n.2158A>T n.2160A>T c.1928A>T (p.Gln643Leu) c.1697A>T (p.Gln566Leu) n.1943A>T | |
11 | g.77172789G>A | CA475794304 | MYO7A | c.1839G>A (p.Gln613=) c.203G>A c.1806G>A (p.Gln602=) c.1608G>A (p.Gln536=) c.1581G>A (p.Gln527=) n.2159G>A n.2161G>A c.1929G>A (p.Gln643=) c.1698G>A (p.Gln566=) n.1944G>A | gnomAD v4 |
11 | g.77172789G>C | CA381938327 | MYO7A | c.1839G>C (p.Gln613His) c.203G>C c.1806G>C (p.Gln602His) c.1608G>C (p.Gln536His) c.1581G>C (p.Gln527His) n.2159G>C n.2161G>C c.1929G>C (p.Gln643His) c.1698G>C (p.Gln566His) n.1944G>C | gnomAD v4 |
11 | g.77172789G>T | CA381938328 | MYO7A | c.1839G>T (p.Gln613His) c.203G>T c.1806G>T (p.Gln602His) c.1608G>T (p.Gln536His) c.1581G>T (p.Gln527His) n.2159G>T n.2161G>T c.1929G>T (p.Gln643His) c.1698G>T (p.Gln566His) n.1944G>T | |
11 | g.77172790T>A | CA381938330 | MYO7A | c.1840T>A (p.Phe614Ile) c.204T>A c.1807T>A (p.Phe603Ile) c.1609T>A (p.Phe537Ile) c.1582T>A (p.Phe528Ile) n.2160T>A n.2162T>A c.1930T>A (p.Phe644Ile) c.1699T>A (p.Phe567Ile) n.1945T>A | |
11 | g.77172790T>C | CA381938332 | MYO7A | c.1840T>C (p.Phe614Leu) c.204T>C c.1807T>C (p.Phe603Leu) c.1609T>C (p.Phe537Leu) c.1582T>C (p.Phe528Leu) n.2160T>C n.2162T>C c.1930T>C (p.Phe644Leu) c.1699T>C (p.Phe567Leu) n.1945T>C | gnomAD v4 |
11 | g.77172790T>G | CA381938334 | MYO7A | c.1840T>G (p.Phe614Val) c.204T>G c.1807T>G (p.Phe603Val) c.1609T>G (p.Phe537Val) c.1582T>G (p.Phe528Val) n.2160T>G n.2162T>G c.1930T>G (p.Phe644Val) c.1699T>G (p.Phe567Val) n.1945T>G | dbSNP |
11 | g.77172790T= | CA1984110556 | MYO7A | c.1840T= (p.Phe614=) c.204T= c.1807T= (p.Phe603=) c.1609T= (p.Phe537=) c.1582T= (p.Phe528=) n.2160T= n.2162T= c.1930T= (p.Phe644=) c.1699T= (p.Phe567=) n.1945T= | |
11 | g.77172791T>A | CA381938340 | MYO7A | c.1841T>A (p.Phe614Tyr) c.205T>A c.1808T>A (p.Phe603Tyr) c.1610T>A (p.Phe537Tyr) c.1583T>A (p.Phe528Tyr) n.2161T>A n.2163T>A c.1931T>A (p.Phe644Tyr) c.1700T>A (p.Phe567Tyr) n.1946T>A | |
11 | g.77172791T>C | CA381938338 | MYO7A | c.1841T>C (p.Phe614Ser) c.205T>C c.1808T>C (p.Phe603Ser) c.1610T>C (p.Phe537Ser) c.1583T>C (p.Phe528Ser) n.2161T>C n.2163T>C c.1931T>C (p.Phe644Ser) c.1700T>C (p.Phe567Ser) n.1946T>C | |
11 | g.77172791T>G | CA381938337 | MYO7A | c.1841T>G (p.Phe614Cys) c.205T>G c.1808T>G (p.Phe603Cys) c.1610T>G (p.Phe537Cys) c.1583T>G (p.Phe528Cys) n.2161T>G n.2163T>G c.1931T>G (p.Phe644Cys) c.1700T>G (p.Phe567Cys) n.1946T>G | |
11 | g.77172792C>A | CA381938343 | MYO7A | c.1842C>A (p.Phe614Leu) c.206C>A c.1809C>A (p.Phe603Leu) c.1611C>A (p.Phe537Leu) c.1584C>A (p.Phe528Leu) n.2162C>A n.2164C>A c.1932C>A (p.Phe644Leu) c.1701C>A (p.Phe567Leu) n.1947C>A | gnomAD v4 |
11 | g.77172792C= | CA1984110559 | MYO7A | c.1842C= (p.Phe614=) c.206C= c.1809C= (p.Phe603=) c.1611C= (p.Phe537=) c.1584C= (p.Phe528=) n.2162C= n.2164C= c.1932C= (p.Phe644=) c.1701C= (p.Phe567=) n.1947C= | |
11 | g.77172792C>G | CA381938346 | MYO7A | c.1842C>G (p.Phe614Leu) c.206C>G c.1809C>G (p.Phe603Leu) c.1611C>G (p.Phe537Leu) c.1584C>G (p.Phe528Leu) n.2162C>G n.2164C>G c.1932C>G (p.Phe644Leu) c.1701C>G (p.Phe567Leu) n.1947C>G | ClinVar gnomAD v4 |
11 | g.77172792C>T | CA475794305 | MYO7A | c.1842C>T (p.Phe614=) c.206C>T c.1809C>T (p.Phe603=) c.1611C>T (p.Phe537=) c.1584C>T (p.Phe528=) n.2162C>T n.2164C>T c.1932C>T (p.Phe644=) c.1701C>T (p.Phe567=) n.1947C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.77172793A= | CA1984110563 | MYO7A | c.1843A= (p.Lys615=) c.207A= c.1810A= (p.Lys604=) c.1612A= (p.Lys538=) c.1585A= (p.Lys529=) n.2163A= n.2165A= c.1933A= (p.Lys645=) c.1702A= (p.Lys568=) n.1948A= | |
11 | g.77172793A>C | CA381938348 | MYO7A | c.1843A>C (p.Lys615Gln) c.207A>C c.1810A>C (p.Lys604Gln) c.1612A>C (p.Lys538Gln) c.1585A>C (p.Lys529Gln) n.2163A>C n.2165A>C c.1933A>C (p.Lys645Gln) c.1702A>C (p.Lys568Gln) n.1948A>C | |
11 | g.77172793A>G | CA381938350 | MYO7A | c.1843A>G (p.Lys615Glu) c.207A>G c.1810A>G (p.Lys604Glu) c.1612A>G (p.Lys538Glu) c.1585A>G (p.Lys529Glu) n.2163A>G n.2165A>G c.1933A>G (p.Lys645Glu) c.1702A>G (p.Lys568Glu) n.1948A>G | gnomAD v4 |
11 | g.77172793A>T | CA381938353 | MYO7A | c.1843A>T (p.Lys615Ter) c.207A>T c.1810A>T (p.Lys604Ter) c.1612A>T (p.Lys538Ter) c.1585A>T (p.Lys529Ter) n.2163A>T n.2165A>T c.1933A>T (p.Lys645Ter) c.1702A>T (p.Lys568Ter) n.1948A>T | ClinVar dbSNP |
11 | g.77172794A= | CA1984110569 | MYO7A | c.1844A= (p.Lys615=) c.208A= c.1811A= (p.Lys604=) c.1613A= (p.Lys538=) c.1586A= (p.Lys529=) n.2164A= n.2166A= c.1934A= (p.Lys645=) c.1703A= (p.Lys568=) n.1949A= | |
11 | g.77172794A>C | CA381938358 | MYO7A | c.1844A>C (p.Lys615Thr) c.208A>C c.1811A>C (p.Lys604Thr) c.1613A>C (p.Lys538Thr) c.1586A>C (p.Lys529Thr) n.2164A>C n.2166A>C c.1934A>C (p.Lys645Thr) c.1703A>C (p.Lys568Thr) n.1949A>C | gnomAD v4 |
11 | g.77172794A>G | CA381938360 | MYO7A | c.1844A>G (p.Lys615Arg) c.208A>G c.1811A>G (p.Lys604Arg) c.1613A>G (p.Lys538Arg) c.1586A>G (p.Lys529Arg) n.2164A>G n.2166A>G c.1934A>G (p.Lys645Arg) c.1703A>G (p.Lys568Arg) n.1949A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.77172794A>T | CA381938361 | MYO7A | c.1844A>T (p.Lys615Met) c.208A>T c.1811A>T (p.Lys604Met) c.1613A>T (p.Lys538Met) c.1586A>T (p.Lys529Met) n.2164A>T n.2166A>T c.1934A>T (p.Lys645Met) c.1703A>T (p.Lys568Met) n.1949A>T | dbSNP gnomAD v4 |
11 | g.77172794_77172795delinsAG | CA1984110568 | MYO7A | c.1844_1845delinsAG (p.Lys615=) c.208_209delinsAG c.1811_1812delinsAG (p.Lys604=) c.1613_1614delinsAG (p.Lys538=) c.1586_1587delinsAG (p.Lys529=) n.2164_2165delinsAG n.2166_2167delinsAG c.1934_1935delinsAG (p.Lys645=) c.1703_1704delinsAG (p.Lys568=) n.1949_1950delinsAG | |
11 | g.77172795del | CA10575818 | MYO7A | c.1845del (p.Lys615AsnfsTer7) c.209del c.1812del (p.Lys604AsnfsTer7) c.1614del (p.Lys538AsnfsTer7) c.1587del (p.Lys529AsnfsTer7) n.2165del n.2167del c.1935del (p.Lys645AsnfsTer7) c.1704del (p.Lys568AsnfsTer7) n.1950del | ClinVar dbSNP |
11 | g.77172795G>A | CA475794306 | MYO7A | c.1845G>A (p.Lys615=) c.209G>A c.1812G>A (p.Lys604=) c.1614G>A (p.Lys538=) c.1587G>A (p.Lys529=) n.2165G>A n.2167G>A c.1935G>A (p.Lys645=) c.1704G>A (p.Lys568=) n.1950G>A | |
11 | g.77172795G>C | CA381938363 | MYO7A | c.1845G>C (p.Lys615Asn) c.209G>C c.1812G>C (p.Lys604Asn) c.1614G>C (p.Lys538Asn) c.1587G>C (p.Lys529Asn) n.2165G>C n.2167G>C c.1935G>C (p.Lys645Asn) c.1704G>C (p.Lys568Asn) n.1950G>C | |
11 | g.77172795G>T | CA381938364 | MYO7A | c.1845G>T (p.Lys615Asn) c.209G>T c.1812G>T (p.Lys604Asn) c.1614G>T (p.Lys538Asn) c.1587G>T (p.Lys529Asn) n.2165G>T n.2167G>T c.1935G>T (p.Lys645Asn) c.1704G>T (p.Lys568Asn) n.1950G>T | gnomAD v4 |
11 | g.77172796C>A | CA475794307 | MYO7A | c.1846C>A (p.Arg616=) c.210C>A c.1813C>A (p.Arg605=) c.1615C>A (p.Arg539=) c.1588C>A (p.Arg530=) n.2166C>A n.2168C>A c.1936C>A (p.Arg646=) c.1705C>A (p.Arg569=) n.1951C>A | ClinVar dbSNP gnomAD v4 |
11 | g.77172796C= | CA1984110586 | MYO7A | c.1846C= (p.Arg616=) c.210C= c.1813C= (p.Arg605=) c.1615C= (p.Arg539=) c.1588C= (p.Arg530=) n.2166C= n.2168C= c.1936C= (p.Arg646=) c.1705C= (p.Arg569=) n.1951C= | |
11 | g.77172796C>G | CA381938369 | MYO7A | c.1846C>G (p.Arg616Gly) c.210C>G c.1813C>G (p.Arg605Gly) c.1615C>G (p.Arg539Gly) c.1588C>G (p.Arg530Gly) n.2166C>G n.2168C>G c.1936C>G (p.Arg646Gly) c.1705C>G (p.Arg569Gly) n.1951C>G | |
11 | g.77172796C>T | CA132223 | MYO7A | c.1846C>T (p.Arg616Trp) c.210C>T c.1813C>T (p.Arg605Trp) c.1615C>T (p.Arg539Trp) c.1588C>T (p.Arg530Trp) n.2166C>T n.2168C>T c.1936C>T (p.Arg646Trp) c.1705C>T (p.Arg569Trp) n.1951C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77172797G>A | CA6197626 | MYO7A | c.1847G>A (p.Arg616Gln) c.211G>A c.1814G>A (p.Arg605Gln) c.1616G>A (p.Arg539Gln) c.1589G>A (p.Arg530Gln) n.2167G>A n.2169G>A c.1937G>A (p.Arg646Gln) c.1706G>A (p.Arg569Gln) n.1952G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77172797G>C | CA381938382 | MYO7A | c.1847G>C (p.Arg616Pro) c.211G>C c.1814G>C (p.Arg605Pro) c.1616G>C (p.Arg539Pro) c.1589G>C (p.Arg530Pro) n.2167G>C n.2169G>C c.1937G>C (p.Arg646Pro) c.1706G>C (p.Arg569Pro) n.1952G>C | gnomAD v4 |
11 | g.77172797G= | CA1984110590 | MYO7A | c.1847G= (p.Arg616=) c.211G= c.1814G= (p.Arg605=) c.1616G= (p.Arg539=) c.1589G= (p.Arg530=) n.2167G= n.2169G= c.1937G= (p.Arg646=) c.1706G= (p.Arg569=) n.1952G= | |
11 | g.77172797G>T | CA381938373 | MYO7A | c.1847G>T (p.Arg616Leu) c.211G>T c.1814G>T (p.Arg605Leu) c.1616G>T (p.Arg539Leu) c.1589G>T (p.Arg530Leu) n.2167G>T n.2169G>T c.1937G>T (p.Arg646Leu) c.1706G>T (p.Arg569Leu) n.1952G>T | gnomAD v4 |
11 | g.77172798G>A | CA6197627 | MYO7A | c.1848G>A (p.Arg616=) c.212G>A c.1815G>A (p.Arg605=) c.1617G>A (p.Arg539=) c.1590G>A (p.Arg530=) n.2168G>A n.2170G>A c.1938G>A (p.Arg646=) c.1707G>A (p.Arg569=) n.1953G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77172798G>C | CA475794308 | MYO7A | c.1848G>C (p.Arg616=) c.212G>C c.1815G>C (p.Arg605=) c.1617G>C (p.Arg539=) c.1590G>C (p.Arg530=) n.2168G>C n.2170G>C c.1938G>C (p.Arg646=) c.1707G>C (p.Arg569=) n.1953G>C | |
11 | g.77172798G= | CA1984110595 | MYO7A | c.1848G= (p.Arg616=) c.212G= c.1815G= (p.Arg605=) c.1617G= (p.Arg539=) c.1590G= (p.Arg530=) n.2168G= n.2170G= c.1938G= (p.Arg646=) c.1707G= (p.Arg569=) n.1953G= | |
11 | g.77172798G>T | CA475794309 | MYO7A | c.1848G>T (p.Arg616=) c.212G>T c.1815G>T (p.Arg605=) c.1617G>T (p.Arg539=) c.1590G>T (p.Arg530=) n.2168G>T n.2170G>T c.1938G>T (p.Arg646=) c.1707G>T (p.Arg569=) n.1953G>T | |
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 |