Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.77172741_77172750delinsATCGGCTGCTCA1139662098MYO7Ac.1798-7_1800delinsATCGGCTGCT
c.162-7_164delinsATCGGCTGCT
c.1765-7_1767delinsATCGGCTGCT
c.1567-7_1569delinsATCGGCTGCT
c.1540-7_1542delinsATCGGCTGCT
n.2118-7_2120delinsATCGGCTGCT
n.2120-7_2122delinsATCGGCTGCT
c.1888-7_1890delinsATCGGCTGCT
c.1657-7_1659delinsATCGGCTGCT
n.1903-7_1905delinsATCGGCTGCT
ClinVar dbSNP
11g.77172741_77172750delinsCCCCCAGGGCCA1984110359MYO7Ac.1798-7_1800delinsCCCCCAGGGC
c.162-7_164delinsCCCCCAGGGC
c.1765-7_1767delinsCCCCCAGGGC
c.1567-7_1569delinsCCCCCAGGGC
c.1540-7_1542delinsCCCCCAGGGC
n.2118-7_2120delinsCCCCCAGGGC
n.2120-7_2122delinsCCCCCAGGGC
c.1888-7_1890delinsCCCCCAGGGC
c.1657-7_1659delinsCCCCCAGGGC
n.1903-7_1905delinsCCCCCAGGGC
11g.77172745_77172751delinsCAGGGCGCA1984110394MYO7Ac.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
11g.77172745_77172751delinsGGCTGCTCA918919102MYO7Ac.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
11g.77172749delCA2573147690MYO7Ac.1799del
c.163del
c.1766del
c.1568del
c.1541del
n.2119del
n.2121del
c.1889del
c.1658del
n.1904del
ClinVar dbSNP
11g.77172749G>ACA381938145MYO7Ac.1799G>A (p.Gly600Asp)
c.163G>A
c.1766G>A (p.Gly589Asp)
c.1568G>A (p.Gly523Asp)
c.1541G>A (p.Gly514Asp)
n.2119G>A
n.2121G>A
c.1889G>A (p.Gly630Asp)
c.1658G>A (p.Gly553Asp)
n.1904G>A
gnomAD v4
11g.77172749G>CCA381938146MYO7Ac.1799G>C (p.Gly600Ala)
c.163G>C
c.1766G>C (p.Gly589Ala)
c.1568G>C (p.Gly523Ala)
c.1541G>C (p.Gly514Ala)
n.2119G>C
n.2121G>C
c.1889G>C (p.Gly630Ala)
c.1658G>C (p.Gly553Ala)
n.1904G>C
11g.77172749G>TCA381938148MYO7Ac.1799G>T (p.Gly600Val)
c.163G>T
c.1766G>T (p.Gly589Val)
c.1568G>T (p.Gly523Val)
c.1541G>T (p.Gly514Val)
n.2119G>T
n.2121G>T
c.1889G>T (p.Gly630Val)
c.1658G>T (p.Gly553Val)
n.1904G>T
gnomAD v4
11g.77172750C>ACA475794279MYO7Ac.1800C>A (p.Gly600=)
c.164C>A
c.1767C>A (p.Gly589=)
c.1569C>A (p.Gly523=)
c.1542C>A (p.Gly514=)
n.2120C>A
n.2122C>A
c.1890C>A (p.Gly630=)
c.1659C>A (p.Gly553=)
n.1905C>A
gnomAD v4
11g.77172750C=CA1984110413MYO7Ac.1800C= (p.Gly600=)
c.164C=
c.1767C= (p.Gly589=)
c.1569C= (p.Gly523=)
c.1542C= (p.Gly514=)
n.2120C=
n.2122C=
c.1890C= (p.Gly630=)
c.1659C= (p.Gly553=)
n.1905C=
11g.77172750C>GCA475794277MYO7Ac.1800C>G (p.Gly600=)
c.164C>G
c.1767C>G (p.Gly589=)
c.1569C>G (p.Gly523=)
c.1542C>G (p.Gly514=)
n.2120C>G
n.2122C>G
c.1890C>G (p.Gly630=)
c.1659C>G (p.Gly553=)
n.1905C>G
11g.77172750C>TCA475794278MYO7Ac.1800C>T (p.Gly600=)
c.164C>T
c.1767C>T (p.Gly589=)
c.1569C>T (p.Gly523=)
c.1542C>T (p.Gly514=)
n.2120C>T
n.2122C>T
c.1890C>T (p.Gly630=)
c.1659C>T (p.Gly553=)
n.1905C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77172750_77172751insTGCTCA939770782MYO7Ac.1800_1801insTGCT (p.Ala601CysfsTer12)
c.164_165insTGCT
c.1767_1768insTGCT (p.Ala590CysfsTer12)
c.1569_1570insTGCT (p.Ala524CysfsTer12)
c.1542_1543insTGCT (p.Ala515CysfsTer12)
n.2120_2121insTGCT
n.2122_2123insTGCT
c.1890_1891insTGCT (p.Ala631CysfsTer12)
c.1659_1660insTGCT (p.Ala554CysfsTer12)
n.1905_1906insTGCT
dbSNP gnomAD v3 gnomAD v4
11g.77172751G>ACA6197616MYO7Ac.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
11g.77172751G>CCA381938152MYO7Ac.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
11g.77172751G=CA1984110419MYO7Ac.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=
11g.77172751G>TCA381938151MYO7Ac.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
11g.77172752C>ACA381938157MYO7Ac.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
11g.77172752C=CA1984110423MYO7Ac.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=
11g.77172752C>GCA381938158MYO7Ac.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
11g.77172752C>TCA6197617MYO7Ac.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
11g.77172753C>ACA475794280MYO7Ac.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
11g.77172753C=CA1984110432MYO7Ac.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=
11g.77172753C>GCA475794281MYO7Ac.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
11g.77172753C>TCA6197618MYO7Ac.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
11g.77172754delCA2573147691MYO7Ac.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
11g.77172754G>ACA224836024MYO7Ac.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
11g.77172754G>CCA381938163MYO7Ac.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
11g.77172754G=CA1984110435MYO7Ac.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=
11g.77172754G>TCA381938170MYO7Ac.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
11g.77172755A>CCA381938173MYO7Ac.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
11g.77172755A>GCA381938174MYO7Ac.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
11g.77172755A>TCA381938177MYO7Ac.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
11g.77172756G>ACA475794282MYO7Ac.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
11g.77172756G>CCA381938179MYO7Ac.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
11g.77172756G>TCA381938180MYO7Ac.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
11g.77172757A=CA1984110439MYO7Ac.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=
11g.77172757A>CCA381938186MYO7Ac.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
11g.77172757A>GCA381938184MYO7Ac.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
11g.77172757A>TCA381938182MYO7Ac.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
11g.77172758C>ACA381938189MYO7Ac.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
11g.77172758C>GCA381938193MYO7Ac.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
11g.77172758C>TCA381938191MYO7Ac.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
11g.77172759delCA2615247126MYO7Ac.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
11g.77172759C>ACA475794283MYO7Ac.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
11g.77172759C>GCA475794284MYO7Ac.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
11g.77172759C>TCA475794285MYO7Ac.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
11g.77172760A=CA1984110442MYO7Ac.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=
11g.77172760A>CCA475794286MYO7Ac.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
11g.77172760A>GCA381938196MYO7Ac.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
11g.77172760A>TCA381938198MYO7Ac.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
11g.77172761G>ACA381938200MYO7Ac.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
11g.77172761G>CCA381938203MYO7Ac.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
11g.77172761G>TCA381938204MYO7Ac.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
11g.77172762G>ACA6197619MYO7Ac.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
11g.77172762G>CCA381938205MYO7Ac.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
11g.77172762G=CA1984110445MYO7Ac.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=
11g.77172762G>TCA381938206MYO7Ac.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
11g.77172763A=CA1984110447MYO7Ac.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=
11g.77172763A>CCA381938207MYO7Ac.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
11g.77172763A>GCA6197620MYO7Ac.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
11g.77172763A>TCA381938208MYO7Ac.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
11g.77172764A=CA1984110453MYO7Ac.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=
11g.77172764A>CCA381938211MYO7Ac.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
11g.77172764A>GCA224836056MYO7Ac.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
11g.77172764A>TCA381938210MYO7Ac.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
11g.77172765G>ACA475794287MYO7Ac.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
11g.77172765G>CCA381938214MYO7Ac.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
11g.77172765G>TCA381938216MYO7Ac.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
11g.77172766C>ACA381938219MYO7Ac.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
11g.77172766C=CA1984110458MYO7Ac.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=
11g.77172766C>GCA381938221MYO7Ac.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
11g.77172766C>TCA6197621MYO7Ac.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
11g.77172767G>ACA6197622MYO7Ac.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
11g.77172767G>CCA381938225MYO7Ac.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
11g.77172767G=CA1984110464MYO7Ac.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=
11g.77172767G>TCA381938227MYO7Ac.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
11g.77172768C>ACA475794288MYO7Ac.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
11g.77172768C=CA1984110471MYO7Ac.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=
11g.77172768C>GCA475794289MYO7Ac.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
11g.77172768C>TCA475794290MYO7Ac.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
11g.77172769T>ACA381938231MYO7Ac.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
11g.77172769T>CCA381938233MYO7Ac.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
11g.77172769T>GCA381938234MYO7Ac.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
11g.77172770C>ACA381938236MYO7Ac.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
11g.77172770C=CA1984110479MYO7Ac.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=
11g.77172770C>GCA381938239MYO7Ac.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
11g.77172770C>TCA6197623MYO7Ac.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
11g.77172771G>ACA132219MYO7Ac.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
11g.77172771G>CCA475794292MYO7Ac.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
11g.77172771G=CA1984110485MYO7Ac.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=
11g.77172771G>TCA475794291MYO7Ac.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
11g.77172774_77172787dupCA2615247322MYO7Ac.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
11g.77172772C>ACA6197624MYO7Ac.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
11g.77172772C=CA1984110492MYO7Ac.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=
11g.77172772C>GCA381938243MYO7Ac.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
11g.77172772C>TCA381938246MYO7Ac.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
11g.77172773C>ACA381938249MYO7Ac.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
11g.77172773C=CA1984110495MYO7Ac.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=
11g.77172773C>GCA381938252MYO7Ac.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
11g.77172773C>TCA381938255MYO7Ac.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
11g.77172774C>ACA475794293MYO7Ac.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
11g.77172774C>GCA475794294MYO7Ac.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
11g.77172774C>TCA475794295MYO7Ac.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
11g.77172775A=CA1984110500MYO7Ac.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=
11g.77172775A>CCA381938257MYO7Ac.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
11g.77172775A>GCA381938258MYO7Ac.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
11g.77172775A>TCA381938260MYO7Ac.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
11g.77172776C>ACA381938261MYO7Ac.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
11g.77172776C=CA1984110504MYO7Ac.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=
11g.77172776C>GCA381938264MYO7Ac.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
11g.77172776C>TCA381938265MYO7Ac.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
11g.77172777A>CCA475794296MYO7Ac.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
11g.77172777A>GCA475794298MYO7Ac.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
11g.77172777A>TCA475794297MYO7Ac.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
11g.77172778C>ACA381938272MYO7Ac.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
11g.77172778C=CA1984110507MYO7Ac.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=
11g.77172778C>GCA381938271MYO7Ac.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
11g.77172778C>TCA381938268MYO7Ac.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
11g.77172779T>ACA381938275MYO7Ac.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
11g.77172779T>CCA381938277MYO7Ac.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
11g.77172779T>GCA381938279MYO7Ac.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
11g.77172779_77172782dupCA2573147692MYO7Ac.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
11g.77172780T>ACA475794299MYO7Ac.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
11g.77172780T>CCA475794300MYO7Ac.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
11g.77172780T>GCA475794301MYO7Ac.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
11g.77172781A>CCA381938282MYO7Ac.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
11g.77172781A>GCA381938284MYO7Ac.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
11g.77172781A>TCA381938287MYO7Ac.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
11g.77172784_77172786delCA2695215042MYO7Ac.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
11g.77172782G>ACA6197625MYO7Ac.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
11g.77172782G>CCA381938290MYO7Ac.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
11g.77172782G=CA1984110513MYO7Ac.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=
11g.77172782G>TCA381938291MYO7Ac.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
11g.77172783C>ACA381938294MYO7Ac.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
11g.77172783C>GCA381938296MYO7Ac.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
11g.77172783C>TCA475794302MYO7Ac.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
11g.77172783_77172788delCA2695215043MYO7Ac.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
11g.77172783_77172788dupCA278632MYO7Ac.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
11g.77172784A>CCA381938303MYO7Ac.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
11g.77172784A>GCA381938302MYO7Ac.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
11g.77172784A>TCA381938300MYO7Ac.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
11g.77172785G>ACA381938304MYO7Ac.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
11g.77172785G>CCA381938308MYO7Ac.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
11g.77172785G=CA1984110534MYO7Ac.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=
11g.77172785G>TCA381938306MYO7Ac.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
11g.77172786C>ACA381938310MYO7Ac.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
11g.77172786C>GCA381938313MYO7Ac.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
11g.77172786C>TCA475794303MYO7Ac.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
11g.77172787C>ACA381938315MYO7Ac.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
11g.77172787C=CA1984110540MYO7Ac.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=
11g.77172787C>GCA381938317MYO7Ac.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
11g.77172787C>TCA381938319MYO7Ac.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
11g.77172788A=CA1984110551MYO7Ac.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=
11g.77172788A>CCA381938321MYO7Ac.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
11g.77172788A>GCA381938324MYO7Ac.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
11g.77172788A>TCA381938325MYO7Ac.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
11g.77172789G>ACA475794304MYO7Ac.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
11g.77172789G>CCA381938327MYO7Ac.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
11g.77172789G>TCA381938328MYO7Ac.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
11g.77172790T>ACA381938330MYO7Ac.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
11g.77172790T>CCA381938332MYO7Ac.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
11g.77172790T>GCA381938334MYO7Ac.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
11g.77172790T=CA1984110556MYO7Ac.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=
11g.77172791T>ACA381938340MYO7Ac.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
11g.77172791T>CCA381938338MYO7Ac.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
11g.77172791T>GCA381938337MYO7Ac.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
11g.77172792C>ACA381938343MYO7Ac.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
11g.77172792C=CA1984110559MYO7Ac.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=
11g.77172792C>GCA381938346MYO7Ac.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
11g.77172792C>TCA475794305MYO7Ac.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
11g.77172793A=CA1984110563MYO7Ac.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=
11g.77172793A>CCA381938348MYO7Ac.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
11g.77172793A>GCA381938350MYO7Ac.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
11g.77172793A>TCA381938353MYO7Ac.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
11g.77172794A=CA1984110569MYO7Ac.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=
11g.77172794A>CCA381938358MYO7Ac.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
11g.77172794A>GCA381938360MYO7Ac.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
11g.77172794A>TCA381938361MYO7Ac.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
11g.77172794_77172795delinsAGCA1984110568MYO7Ac.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
11g.77172795delCA10575818MYO7Ac.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
11g.77172795G>ACA475794306MYO7Ac.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
11g.77172795G>CCA381938363MYO7Ac.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
11g.77172795G>TCA381938364MYO7Ac.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
11g.77172796C>ACA475794307MYO7Ac.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
11g.77172796C=CA1984110586MYO7Ac.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=
11g.77172796C>GCA381938369MYO7Ac.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
11g.77172796C>TCA132223MYO7Ac.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
11g.77172797G>ACA6197626MYO7Ac.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
11g.77172797G>CCA381938382MYO7Ac.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
11g.77172797G=CA1984110590MYO7Ac.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=
11g.77172797G>TCA381938373MYO7Ac.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
11g.77172798G>ACA6197627MYO7Ac.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
11g.77172798G>CCA475794308MYO7Ac.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
11g.77172798G=CA1984110595MYO7Ac.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=
11g.77172798G>TCA475794309MYO7Ac.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
11g.77172799T>ACA381938385MYO7Ac.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
11g.77172799T>CCA6197628MYO7Ac.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
11g.77172799T>GCA381938388MYO7Ac.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
11g.77172799T=CA1984110601MYO7Ac.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=
11g.77172800C>ACA381938390MYO7Ac.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
11g.77172800C>GCA381938393MYO7Ac.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
11g.77172800C>TCA381938395MYO7Ac.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
11g.77172801A>CCA475794312MYO7Ac.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
11g.77172801A>GCA475794311MYO7Ac.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
11g.77172801A>TCA475794310MYO7Ac.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
11g.77172802C>ACA381938396MYO7Ac.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
11g.77172802C=CA1984110609MYO7Ac.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=
11g.77172802C>GCA381938398MYO7Ac.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
11g.77172802C>TCA475794313MYO7Ac.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
11g.77172803T>ACA381938400MYO7Ac.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
11g.77172803T>CCA381938403MYO7Ac.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
11g.77172803T>GCA381938404MYO7Ac.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
11g.77172803T=CA1984110611MYO7Ac.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=
11g.77172804G>ACA132225MYO7Ac.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
11g.77172804G>CCA475794314MYO7Ac.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
11g.77172804G=CA1984110618MYO7Ac.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=
11g.77172804G>TCA475794315MYO7Ac.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
11g.77172805G>ACA381938406MYO7Ac.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
11g.77172805G>CCA381938409MYO7Ac.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
11g.77172805G=CA1984110624MYO7Ac.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=
11g.77172805G>TCA381938408MYO7Ac.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
11g.77172806A>CCA381938412MYO7Ac.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
11g.77172806A>GCA381938414MYO7Ac.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
11g.77172806A>TCA381938415MYO7Ac.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
11g.77172807G>ACA475794316MYO7Ac.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
11g.77172807G>CCA381938417MYO7Ac.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
11g.77172807G>TCA381938418MYO7Ac.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
11g.77172811_77172813delCA2615247667MYO7Ac.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
11g.77172808C>ACA381938420MYO7Ac.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
11g.77172808C>GCA381938421MYO7Ac.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
11g.77172808C>TCA475794320MYO7Ac.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
11g.77172809T>ACA381938423MYO7Ac.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
11g.77172809T>CCA381938425MYO7Ac.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
11g.77172809T>GCA381938426MYO7Ac.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
11g.77172810G>ACA475794323MYO7Ac.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
11g.77172810G>CCA475794324MYO7Ac.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
11g.77172810G=CA1984110627MYO7Ac.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=
11g.77172810G>TCA475794325MYO7Ac.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
11g.77172811C>ACA381938430MYO7Ac.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
11g.77172811C>GCA381938428MYO7Ac.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
11g.77172811C>TCA475794326MYO7Ac.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
11g.77172812T>ACA381938432MYO7Ac.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
11g.77172812T>CCA381938433MYO7Ac.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
11g.77172812T>GCA381938434MYO7Ac.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
11g.77172813G>ACA475794328MYO7Ac.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
11g.77172813G>CCA475794329MYO7Ac.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
11g.77172813G=CA1984110630MYO7Ac.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=
11g.77172813G>TCA475794330MYO7Ac.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
11g.77172814A=CA1984110638MYO7Ac.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=
11g.77172814A>CCA381938436MYO7Ac.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
11g.77172814A>GCA381938438MYO7Ac.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
11g.77172814A>TCA6197629MYO7Ac.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
11g.77172815T>ACA381938441MYO7Ac.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
11g.77172815T>CCA6197630MYO7Ac.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
11g.77172815T>GCA381938440MYO7Ac.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
11g.77172815T=CA1984110644MYO7Ac.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=
11g.77172816G>ACA381938443MYO7Ac.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
11g.77172816G>CCA381938445MYO7Ac.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
11g.77172816G>TCA381938447MYO7Ac.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
11g.77172817C>ACA381938448MYO7Ac.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
11g.77172817C=CA1984110648MYO7Ac.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=
11g.77172817C>GCA381938449MYO7Ac.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
11g.77172817C>TCA6197631MYO7Ac.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
11g.77172818G>ACA132227MYO7Ac.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
11g.77172818G>CCA381938451MYO7Ac.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
11g.77172818G=CA1984110655MYO7Ac.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=
11g.77172818G>TCA6197632MYO7Ac.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
11g.77172819C>ACA475794333MYO7Ac.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
11g.77172819C=CA1984110663MYO7Ac.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=
11g.77172819C>GCA475794335MYO7Ac.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
11g.77172819C>TCA475794334MYO7Ac.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
11g.77172820A=CA1984110668MYO7Ac.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=
11g.77172820A>CCA381938453MYO7Ac.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
11g.77172820A>GCA381938454MYO7Ac.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
11g.77172820A>TCA381938456MYO7Ac.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
11g.77172821C>ACA16606339MYO7Ac.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
11g.77172821C=CA1984110675MYO7Ac.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=
11g.77172821C>GCA381938459MYO7Ac.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
11g.77172821C>TCA224836137MYO7Ac.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
11g.77172822G>ACA224836142MYO7Ac.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
11g.77172822G>CCA475794337MYO7Ac.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
11g.77172822G=CA1984110688MYO7Ac.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=
11g.77172822G>TCA475794339MYO7Ac.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
11g.77172823C>ACA381938462MYO7Ac.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
11g.77172823C>GCA381938463MYO7Ac.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
11g.77172823C>TCA475794342MYO7Ac.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
11g.77172824T>ACA381938465MYO7Ac.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
11g.77172824T>CCA381938467MYO7Ac.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
11g.77172824T>GCA381938469MYO7Ac.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
11g.77172824T=CA1984110693MYO7Ac.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=
11g.77172825G>ACA475794344MYO7Ac.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
11g.77172825G>CCA475794346MYO7Ac.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
11g.77172825G>TCA475794347MYO7Ac.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
11g.77172826G>ACA381938470MYO7Ac.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
11g.77172826G>CCA381938474MYO7Ac.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
11g.77172826G=CA1984110697MYO7Ac.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=
11g.77172826G>TCA381938472MYO7Ac.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
11g.77172827G>ACA381938475MYO7Ac.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
11g.77172827G>CCA381938477MYO7Ac.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
11g.77172827G=CA1984110705MYO7Ac.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=
11g.77172827G>TCA381938478MYO7Ac.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
11g.77172828T>ACA475794353MYO7Ac.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
11g.77172828T>CCA475794351MYO7Ac.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
11g.77172828T>GCA475794349MYO7Ac.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
11g.77172828T=CA1984110708MYO7Ac.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=
11g.77172829G>ACA381938481MYO7Ac.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
11g.77172829G>CCA381938482MYO7Ac.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
11g.77172829G>TCA381938483MYO7Ac.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
11g.77172830C>ACA381938484MYO7Ac.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
11g.77172830C>GCA381938486MYO7Ac.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
11g.77172830C>TCA381938488MYO7Ac.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
11g.77172831C>ACA224836148MYO7Ac.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
11g.77172831C=CA1984110713MYO7Ac.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=
11g.77172831C>GCA224836150MYO7Ac.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
11g.77172831C>TCA475794356MYO7Ac.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
11g.77172832T>ACA381938490MYO7Ac.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
11g.77172832T>CCA381938491MYO7Ac.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
11g.77172832T>GCA381938493MYO7Ac.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
11g.77172833G>ACA381938497MYO7Ac.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
11g.77172833G>CCA381938495MYO7Ac.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
11g.77172833G=CA1984110723MYO7Ac.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=
11g.77172833G>TCA381938494MYO7Ac.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
11g.77172834C>ACA277963MYO7Ac.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
11g.77172834C=CA1984110729MYO7Ac.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=
11g.77172834C>GCA381938500MYO7Ac.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
11g.77172834C>TCA475794360MYO7Ac.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
11g.77172835C>ACA381938503MYO7Ac.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
11g.77172835C=CA1984110735MYO7Ac.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=
11g.77172835C>GCA381938505MYO7Ac.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
11g.77172835C>TCA381938506MYO7Ac.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
11g.77172835_77172836dupCA2615247894MYO7Ac.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
11g.77172836A>CCA381938508MYO7Ac.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
11g.77172836A>GCA381938509MYO7Ac.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
11g.77172836A>TCA381938511MYO7Ac.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
11g.77172837G>ACA475794361MYO7Ac.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
11g.77172837G>CCA381938513MYO7Ac.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
11g.77172837G>TCA381938514MYO7Ac.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
11g.77172838C>ACA381938516MYO7Ac.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
11g.77172838C>GCA381938517MYO7Ac.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
11g.77172838C>TCA381938518MYO7Ac.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
11g.77172839C>ACA381938524MYO7Ac.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
11g.77172839C>GCA381938525MYO7Ac.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
11g.77172839C>TCA381938521MYO7Ac.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
11g.77172840C>ACA475794364MYO7Ac.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
11g.77172840C=CA1984110742MYO7Ac.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=
11g.77172840C>GCA224836155MYO7Ac.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
11g.77172840C>TCA475794366MYO7Ac.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
11g.77172843_77172845delCA2739270690MYO7Ac.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
11g.77172841T>ACA381938529MYO7Ac.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
11g.77172841T>CCA381938527MYO7Ac.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
11g.77172841T>GCA381938530MYO7Ac.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
11g.77172842T>ACA381938532MYO7Ac.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
11g.77172842T>CCA381938535MYO7Ac.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
11g.77172842T>GCA381938533MYO7Ac.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
11g.77172843C>ACA381938536MYO7Ac.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
11g.77172843C=CA1984110744MYO7Ac.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=
11g.77172843C>GCA381938538MYO7Ac.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
11g.77172843C>TCA475794369MYO7Ac.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
11g.77172844T>ACA381938540MYO7Ac.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
11g.77172844T>CCA381938541MYO7Ac.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
11g.77172844T>GCA381938543MYO7Ac.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
11g.77172844T=CA1984110747MYO7Ac.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=
11g.77172845T>ACA381938544MYO7Ac.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
11g.77172845T>CCA381938545MYO7Ac.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
11g.77172845T>GCA6197633MYO7Ac.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
11g.77172845T=CA1984110750MYO7Ac.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=
11g.77172846T>ACA381938547MYO7Ac.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
11g.77172846T>CCA475794372MYO7Ac.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
11g.77172846T>GCA381938548MYO7Ac.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
11g.77172846T=CA1984110757MYO7Ac.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=
11g.77172847G>ACA381938550MYO7Ac.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
11g.77172847G>CCA381938551MYO7Ac.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
11g.77172847G=CA1984110763MYO7Ac.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=
11g.77172847G>TCA381938552MYO7Ac.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
11g.77172848T>ACA381938555MYO7Ac.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
11g.77172848T>CCA381938554MYO7Ac.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
11g.77172848T>GCA381938553MYO7Ac.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
11g.77172849G>ACA475794375MYO7Ac.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
11g.77172849G>CCA475794377MYO7Ac.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
11g.77172849G>TCA475794378MYO7Ac.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

Number of alleles fetched