Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.77211235G>A | CA475791967 | MYO7A | c.6135G>A (p.Lys2045=) c.3936G>A c.5988G>A (p.Lys1996=) c.3561G>A (p.Lys1187=) c.6021G>A (p.Lys2007=) n.3671G>A n.25+324G>A n.1602G>A c.6018G>A (p.Lys2006=) c.6126G>A (p.Lys2042=) c.6129G>A (p.Lys2043=) c.6102G>A (p.Lys2034=) c.6039G>A (p.Lys2013=) c.5910G>A (p.Lys1970=) c.5898G>A (p.Lys1966=) c.5871G>A (p.Lys1957=) n.6455G>A n.6429G>A c.6225G>A (p.Lys2075=) c.6219G>A (p.Lys2073=) c.6216G>A (p.Lys2072=) c.6111G>A (p.Lys2037=) c.6108G>A (p.Lys2036=) n.6214G>A n.6155G>A n.6200G>A | |
11 | g.77211235G>C | CA381935880 | MYO7A | c.6135G>C (p.Lys2045Asn) c.3936G>C c.5988G>C (p.Lys1996Asn) c.3561G>C (p.Lys1187Asn) c.6021G>C (p.Lys2007Asn) n.3671G>C n.25+324G>C n.1602G>C c.6018G>C (p.Lys2006Asn) c.6126G>C (p.Lys2042Asn) c.6129G>C (p.Lys2043Asn) c.6102G>C (p.Lys2034Asn) c.6039G>C (p.Lys2013Asn) c.5910G>C (p.Lys1970Asn) c.5898G>C (p.Lys1966Asn) c.5871G>C (p.Lys1957Asn) n.6455G>C n.6429G>C c.6225G>C (p.Lys2075Asn) c.6219G>C (p.Lys2073Asn) c.6216G>C (p.Lys2072Asn) c.6111G>C (p.Lys2037Asn) c.6108G>C (p.Lys2036Asn) n.6214G>C n.6155G>C n.6200G>C | ClinVar dbSNP |
11 | g.77211235G= | CA1984129871 | MYO7A | c.6135G= (p.Lys2045=) c.3936G= c.5988G= (p.Lys1996=) c.3561G= (p.Lys1187=) c.6021G= (p.Lys2007=) n.3671G= n.25+324G= n.1602G= c.6018G= (p.Lys2006=) c.6126G= (p.Lys2042=) c.6129G= (p.Lys2043=) c.6102G= (p.Lys2034=) c.6039G= (p.Lys2013=) c.5910G= (p.Lys1970=) c.5898G= (p.Lys1966=) c.5871G= (p.Lys1957=) n.6455G= n.6429G= c.6225G= (p.Lys2075=) c.6219G= (p.Lys2073=) c.6216G= (p.Lys2072=) c.6111G= (p.Lys2037=) c.6108G= (p.Lys2036=) n.6214G= n.6155G= n.6200G= | |
11 | g.77211235G>T | CA381935881 | MYO7A | c.6135G>T (p.Lys2045Asn) c.3936G>T c.5988G>T (p.Lys1996Asn) c.3561G>T (p.Lys1187Asn) c.6021G>T (p.Lys2007Asn) n.3671G>T n.25+324G>T n.1602G>T c.6018G>T (p.Lys2006Asn) c.6126G>T (p.Lys2042Asn) c.6129G>T (p.Lys2043Asn) c.6102G>T (p.Lys2034Asn) c.6039G>T (p.Lys2013Asn) c.5910G>T (p.Lys1970Asn) c.5898G>T (p.Lys1966Asn) c.5871G>T (p.Lys1957Asn) n.6455G>T n.6429G>T c.6225G>T (p.Lys2075Asn) c.6219G>T (p.Lys2073Asn) c.6216G>T (p.Lys2072Asn) c.6111G>T (p.Lys2037Asn) c.6108G>T (p.Lys2036Asn) n.6214G>T n.6155G>T n.6200G>T | gnomAD v4 |
11 | g.77211236T>A | CA381935882 | MYO7A | c.6136T>A (p.Phe2046Ile) c.3937T>A c.5989T>A (p.Phe1997Ile) c.3562T>A (p.Phe1188Ile) c.6022T>A (p.Phe2008Ile) n.3672T>A n.25+325T>A n.1603T>A c.6019T>A (p.Phe2007Ile) c.6127T>A (p.Phe2043Ile) c.6130T>A (p.Phe2044Ile) c.6103T>A (p.Phe2035Ile) c.6040T>A (p.Phe2014Ile) c.5911T>A (p.Phe1971Ile) c.5899T>A (p.Phe1967Ile) c.5872T>A (p.Phe1958Ile) n.6456T>A n.6430T>A c.6226T>A (p.Phe2076Ile) c.6220T>A (p.Phe2074Ile) c.6217T>A (p.Phe2073Ile) c.6112T>A (p.Phe2038Ile) c.6109T>A (p.Phe2037Ile) n.6215T>A n.6156T>A n.6201T>A | gnomAD v4 |
11 | g.77211236T>C | CA381935883 | MYO7A | c.6136T>C (p.Phe2046Leu) c.3937T>C c.5989T>C (p.Phe1997Leu) c.3562T>C (p.Phe1188Leu) c.6022T>C (p.Phe2008Leu) n.3672T>C n.25+325T>C n.1603T>C c.6019T>C (p.Phe2007Leu) c.6127T>C (p.Phe2043Leu) c.6130T>C (p.Phe2044Leu) c.6103T>C (p.Phe2035Leu) c.6040T>C (p.Phe2014Leu) c.5911T>C (p.Phe1971Leu) c.5899T>C (p.Phe1967Leu) c.5872T>C (p.Phe1958Leu) n.6456T>C n.6430T>C c.6226T>C (p.Phe2076Leu) c.6220T>C (p.Phe2074Leu) c.6217T>C (p.Phe2073Leu) c.6112T>C (p.Phe2038Leu) c.6109T>C (p.Phe2037Leu) n.6215T>C n.6156T>C n.6201T>C | |
11 | g.77211236T>G | CA381935884 | MYO7A | c.6136T>G (p.Phe2046Val) c.3937T>G c.5989T>G (p.Phe1997Val) c.3562T>G (p.Phe1188Val) c.6022T>G (p.Phe2008Val) n.3672T>G n.25+325T>G n.1603T>G c.6019T>G (p.Phe2007Val) c.6127T>G (p.Phe2043Val) c.6130T>G (p.Phe2044Val) c.6103T>G (p.Phe2035Val) c.6040T>G (p.Phe2014Val) c.5911T>G (p.Phe1971Val) c.5899T>G (p.Phe1967Val) c.5872T>G (p.Phe1958Val) n.6456T>G n.6430T>G c.6226T>G (p.Phe2076Val) c.6220T>G (p.Phe2074Val) c.6217T>G (p.Phe2073Val) c.6112T>G (p.Phe2038Val) c.6109T>G (p.Phe2037Val) n.6215T>G n.6156T>G n.6201T>G | |
11 | g.77211237T>A | CA381935887 | MYO7A | c.6137T>A (p.Phe2046Tyr) c.3938T>A c.5990T>A (p.Phe1997Tyr) c.3563T>A (p.Phe1188Tyr) c.6023T>A (p.Phe2008Tyr) n.3673T>A n.25+326T>A n.1604T>A c.6020T>A (p.Phe2007Tyr) c.6128T>A (p.Phe2043Tyr) c.6131T>A (p.Phe2044Tyr) c.6104T>A (p.Phe2035Tyr) c.6041T>A (p.Phe2014Tyr) c.5912T>A (p.Phe1971Tyr) c.5900T>A (p.Phe1967Tyr) c.5873T>A (p.Phe1958Tyr) n.6457T>A n.6431T>A c.6227T>A (p.Phe2076Tyr) c.6221T>A (p.Phe2074Tyr) c.6218T>A (p.Phe2073Tyr) c.6113T>A (p.Phe2038Tyr) c.6110T>A (p.Phe2037Tyr) n.6216T>A n.6157T>A n.6202T>A | |
11 | g.77211237T>C | CA381935886 | MYO7A | c.6137T>C (p.Phe2046Ser) c.3938T>C c.5990T>C (p.Phe1997Ser) c.3563T>C (p.Phe1188Ser) c.6023T>C (p.Phe2008Ser) n.3673T>C n.25+326T>C n.1604T>C c.6020T>C (p.Phe2007Ser) c.6128T>C (p.Phe2043Ser) c.6131T>C (p.Phe2044Ser) c.6104T>C (p.Phe2035Ser) c.6041T>C (p.Phe2014Ser) c.5912T>C (p.Phe1971Ser) c.5900T>C (p.Phe1967Ser) c.5873T>C (p.Phe1958Ser) n.6457T>C n.6431T>C c.6227T>C (p.Phe2076Ser) c.6221T>C (p.Phe2074Ser) c.6218T>C (p.Phe2073Ser) c.6113T>C (p.Phe2038Ser) c.6110T>C (p.Phe2037Ser) n.6216T>C n.6157T>C n.6202T>C | |
11 | g.77211237T>G | CA381935885 | MYO7A | c.6137T>G (p.Phe2046Cys) c.3938T>G c.5990T>G (p.Phe1997Cys) c.3563T>G (p.Phe1188Cys) c.6023T>G (p.Phe2008Cys) n.3673T>G n.25+326T>G n.1604T>G c.6020T>G (p.Phe2007Cys) c.6128T>G (p.Phe2043Cys) c.6131T>G (p.Phe2044Cys) c.6104T>G (p.Phe2035Cys) c.6041T>G (p.Phe2014Cys) c.5912T>G (p.Phe1971Cys) c.5900T>G (p.Phe1967Cys) c.5873T>G (p.Phe1958Cys) n.6457T>G n.6431T>G c.6227T>G (p.Phe2076Cys) c.6221T>G (p.Phe2074Cys) c.6218T>G (p.Phe2073Cys) c.6113T>G (p.Phe2038Cys) c.6110T>G (p.Phe2037Cys) n.6216T>G n.6157T>G n.6202T>G | |
11 | g.77211238C>A | CA381935889 | MYO7A | c.6138C>A (p.Phe2046Leu) c.3939C>A c.5991C>A (p.Phe1997Leu) c.3564C>A (p.Phe1188Leu) c.6024C>A (p.Phe2008Leu) n.3674C>A n.25+327C>A n.1605C>A c.6021C>A (p.Phe2007Leu) c.6129C>A (p.Phe2043Leu) c.6132C>A (p.Phe2044Leu) c.6105C>A (p.Phe2035Leu) c.6042C>A (p.Phe2014Leu) c.5913C>A (p.Phe1971Leu) c.5901C>A (p.Phe1967Leu) c.5874C>A (p.Phe1958Leu) n.6458C>A n.6432C>A c.6228C>A (p.Phe2076Leu) c.6222C>A (p.Phe2074Leu) c.6219C>A (p.Phe2073Leu) c.6114C>A (p.Phe2038Leu) c.6111C>A (p.Phe2037Leu) n.6217C>A n.6158C>A n.6203C>A | gnomAD v4 |
11 | g.77211238C= | CA1984129872 | MYO7A | c.6138C= (p.Phe2046=) c.3939C= c.5991C= (p.Phe1997=) c.3564C= (p.Phe1188=) c.6024C= (p.Phe2008=) n.3674C= n.25+327C= n.1605C= c.6021C= (p.Phe2007=) c.6129C= (p.Phe2043=) c.6132C= (p.Phe2044=) c.6105C= (p.Phe2035=) c.6042C= (p.Phe2014=) c.5913C= (p.Phe1971=) c.5901C= (p.Phe1967=) c.5874C= (p.Phe1958=) n.6458C= n.6432C= c.6228C= (p.Phe2076=) c.6222C= (p.Phe2074=) c.6219C= (p.Phe2073=) c.6114C= (p.Phe2038=) c.6111C= (p.Phe2037=) n.6217C= n.6158C= n.6203C= | |
11 | g.77211238C>G | CA381935888 | MYO7A | c.6138C>G (p.Phe2046Leu) c.3939C>G c.5991C>G (p.Phe1997Leu) c.3564C>G (p.Phe1188Leu) c.6024C>G (p.Phe2008Leu) n.3674C>G n.25+327C>G n.1605C>G c.6021C>G (p.Phe2007Leu) c.6129C>G (p.Phe2043Leu) c.6132C>G (p.Phe2044Leu) c.6105C>G (p.Phe2035Leu) c.6042C>G (p.Phe2014Leu) c.5913C>G (p.Phe1971Leu) c.5901C>G (p.Phe1967Leu) c.5874C>G (p.Phe1958Leu) n.6458C>G n.6432C>G c.6228C>G (p.Phe2076Leu) c.6222C>G (p.Phe2074Leu) c.6219C>G (p.Phe2073Leu) c.6114C>G (p.Phe2038Leu) c.6111C>G (p.Phe2037Leu) n.6217C>G n.6158C>G n.6203C>G | |
11 | g.77211238C>T | CA475791970 | MYO7A | c.6138C>T (p.Phe2046=) c.3939C>T c.5991C>T (p.Phe1997=) c.3564C>T (p.Phe1188=) c.6024C>T (p.Phe2008=) n.3674C>T n.25+327C>T n.1605C>T c.6021C>T (p.Phe2007=) c.6129C>T (p.Phe2043=) c.6132C>T (p.Phe2044=) c.6105C>T (p.Phe2035=) c.6042C>T (p.Phe2014=) c.5913C>T (p.Phe1971=) c.5901C>T (p.Phe1967=) c.5874C>T (p.Phe1958=) n.6458C>T n.6432C>T c.6228C>T (p.Phe2076=) c.6222C>T (p.Phe2074=) c.6219C>T (p.Phe2073=) c.6114C>T (p.Phe2038=) c.6111C>T (p.Phe2037=) n.6217C>T n.6158C>T n.6203C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.77211239G>A | CA381935891 | MYO7A | c.6139G>A (p.Glu2047Lys) c.3940G>A c.5992G>A (p.Glu1998Lys) c.3565G>A (p.Glu1189Lys) c.6025G>A (p.Glu2009Lys) n.3675G>A n.25+328G>A n.1606G>A c.6022G>A (p.Glu2008Lys) c.6130G>A (p.Glu2044Lys) c.6133G>A (p.Glu2045Lys) c.6106G>A (p.Glu2036Lys) c.6043G>A (p.Glu2015Lys) c.5914G>A (p.Glu1972Lys) c.5902G>A (p.Glu1968Lys) c.5875G>A (p.Glu1959Lys) n.6459G>A n.6433G>A c.6229G>A (p.Glu2077Lys) c.6223G>A (p.Glu2075Lys) c.6220G>A (p.Glu2074Lys) c.6115G>A (p.Glu2039Lys) c.6112G>A (p.Glu2038Lys) n.6218G>A n.6159G>A n.6204G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77211239G>C | CA381935890 | MYO7A | c.6139G>C (p.Glu2047Gln) c.3940G>C c.5992G>C (p.Glu1998Gln) c.3565G>C (p.Glu1189Gln) c.6025G>C (p.Glu2009Gln) n.3675G>C n.25+328G>C n.1606G>C c.6022G>C (p.Glu2008Gln) c.6130G>C (p.Glu2044Gln) c.6133G>C (p.Glu2045Gln) c.6106G>C (p.Glu2036Gln) c.6043G>C (p.Glu2015Gln) c.5914G>C (p.Glu1972Gln) c.5902G>C (p.Glu1968Gln) c.5875G>C (p.Glu1959Gln) n.6459G>C n.6433G>C c.6229G>C (p.Glu2077Gln) c.6223G>C (p.Glu2075Gln) c.6220G>C (p.Glu2074Gln) c.6115G>C (p.Glu2039Gln) c.6112G>C (p.Glu2038Gln) n.6218G>C n.6159G>C n.6204G>C | gnomAD v3 gnomAD v4 |
11 | g.77211239G= | CA1984129873 | MYO7A | c.6139G= (p.Glu2047=) c.3940G= c.5992G= (p.Glu1998=) c.3565G= (p.Glu1189=) c.6025G= (p.Glu2009=) n.3675G= n.25+328G= n.1606G= c.6022G= (p.Glu2008=) c.6130G= (p.Glu2044=) c.6133G= (p.Glu2045=) c.6106G= (p.Glu2036=) c.6043G= (p.Glu2015=) c.5914G= (p.Glu1972=) c.5902G= (p.Glu1968=) c.5875G= (p.Glu1959=) n.6459G= n.6433G= c.6229G= (p.Glu2077=) c.6223G= (p.Glu2075=) c.6220G= (p.Glu2074=) c.6115G= (p.Glu2039=) c.6112G= (p.Glu2038=) n.6218G= n.6159G= n.6204G= | |
11 | g.77211239G>T | CA381935892 | MYO7A | c.6139G>T (p.Glu2047Ter) c.3940G>T c.5992G>T (p.Glu1998Ter) c.3565G>T (p.Glu1189Ter) c.6025G>T (p.Glu2009Ter) n.3675G>T n.25+328G>T n.1606G>T c.6022G>T (p.Glu2008Ter) c.6130G>T (p.Glu2044Ter) c.6133G>T (p.Glu2045Ter) c.6106G>T (p.Glu2036Ter) c.6043G>T (p.Glu2015Ter) c.5914G>T (p.Glu1972Ter) c.5902G>T (p.Glu1968Ter) c.5875G>T (p.Glu1959Ter) n.6459G>T n.6433G>T c.6229G>T (p.Glu2077Ter) c.6223G>T (p.Glu2075Ter) c.6220G>T (p.Glu2074Ter) c.6115G>T (p.Glu2039Ter) c.6112G>T (p.Glu2038Ter) n.6218G>T n.6159G>T n.6204G>T | gnomAD v4 |
11 | g.77211244_77211246del | CA2615262649 | MYO7A | c.6144_6146del (p.Glu2048del) c.3945_3947del c.5997_5999del (p.Glu1999del) c.3570_3572del (p.Glu1190del) c.6030_6032del (p.Glu2010del) n.3680_3682del n.25+333_25+335del n.1611_1613del c.6027_6029del (p.Glu2009del) c.6135_6137del (p.Glu2045del) c.6138_6140del (p.Glu2046del) c.6111_6113del (p.Glu2037del) c.6048_6050del (p.Glu2016del) c.5919_5921del (p.Glu1973del) c.5907_5909del (p.Glu1969del) c.5880_5882del (p.Glu1960del) n.6464_6466del n.6438_6440del c.6234_6236del (p.Glu2078del) c.6228_6230del (p.Glu2076del) c.6225_6227del (p.Glu2075del) c.6120_6122del (p.Glu2040del) c.6117_6119del (p.Glu2039del) n.6223_6225del n.6164_6166del n.6209_6211del | gnomAD v4 |
11 | g.77211240A>C | CA381935893 | MYO7A | c.6140A>C (p.Glu2047Ala) c.3941A>C c.5993A>C (p.Glu1998Ala) c.3566A>C (p.Glu1189Ala) c.6026A>C (p.Glu2009Ala) n.3676A>C n.25+329A>C n.1607A>C c.6023A>C (p.Glu2008Ala) c.6131A>C (p.Glu2044Ala) c.6134A>C (p.Glu2045Ala) c.6107A>C (p.Glu2036Ala) c.6044A>C (p.Glu2015Ala) c.5915A>C (p.Glu1972Ala) c.5903A>C (p.Glu1968Ala) c.5876A>C (p.Glu1959Ala) n.6460A>C n.6434A>C c.6230A>C (p.Glu2077Ala) c.6224A>C (p.Glu2075Ala) c.6221A>C (p.Glu2074Ala) c.6116A>C (p.Glu2039Ala) c.6113A>C (p.Glu2038Ala) n.6219A>C n.6160A>C n.6205A>C | gnomAD v4 |
11 | g.77211240A>G | CA381935895 | MYO7A | c.6140A>G (p.Glu2047Gly) c.3941A>G c.5993A>G (p.Glu1998Gly) c.3566A>G (p.Glu1189Gly) c.6026A>G (p.Glu2009Gly) n.3676A>G n.25+329A>G n.1607A>G c.6023A>G (p.Glu2008Gly) c.6131A>G (p.Glu2044Gly) c.6134A>G (p.Glu2045Gly) c.6107A>G (p.Glu2036Gly) c.6044A>G (p.Glu2015Gly) c.5915A>G (p.Glu1972Gly) c.5903A>G (p.Glu1968Gly) c.5876A>G (p.Glu1959Gly) n.6460A>G n.6434A>G c.6230A>G (p.Glu2077Gly) c.6224A>G (p.Glu2075Gly) c.6221A>G (p.Glu2074Gly) c.6116A>G (p.Glu2039Gly) c.6113A>G (p.Glu2038Gly) n.6219A>G n.6160A>G n.6205A>G | |
11 | g.77211240A>T | CA381935894 | MYO7A | c.6140A>T (p.Glu2047Val) c.3941A>T c.5993A>T (p.Glu1998Val) c.3566A>T (p.Glu1189Val) c.6026A>T (p.Glu2009Val) n.3676A>T n.25+329A>T n.1607A>T c.6023A>T (p.Glu2008Val) c.6131A>T (p.Glu2044Val) c.6134A>T (p.Glu2045Val) c.6107A>T (p.Glu2036Val) c.6044A>T (p.Glu2015Val) c.5915A>T (p.Glu1972Val) c.5903A>T (p.Glu1968Val) c.5876A>T (p.Glu1959Val) n.6460A>T n.6434A>T c.6230A>T (p.Glu2077Val) c.6224A>T (p.Glu2075Val) c.6221A>T (p.Glu2074Val) c.6116A>T (p.Glu2039Val) c.6113A>T (p.Glu2038Val) n.6219A>T n.6160A>T n.6205A>T | |
11 | g.77211241G>A | CA475791973 | MYO7A | c.6141G>A (p.Glu2047=) c.3942G>A c.5994G>A (p.Glu1998=) c.3567G>A (p.Glu1189=) c.6027G>A (p.Glu2009=) n.3677G>A n.25+330G>A n.1608G>A c.6024G>A (p.Glu2008=) c.6132G>A (p.Glu2044=) c.6135G>A (p.Glu2045=) c.6108G>A (p.Glu2036=) c.6045G>A (p.Glu2015=) c.5916G>A (p.Glu1972=) c.5904G>A (p.Glu1968=) c.5877G>A (p.Glu1959=) n.6461G>A n.6435G>A c.6231G>A (p.Glu2077=) c.6225G>A (p.Glu2075=) c.6222G>A (p.Glu2074=) c.6117G>A (p.Glu2039=) c.6114G>A (p.Glu2038=) n.6220G>A n.6161G>A n.6206G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77211241G>C | CA381935896 | MYO7A | c.6141G>C (p.Glu2047Asp) c.3942G>C c.5994G>C (p.Glu1998Asp) c.3567G>C (p.Glu1189Asp) c.6027G>C (p.Glu2009Asp) n.3677G>C n.25+330G>C n.1608G>C c.6024G>C (p.Glu2008Asp) c.6132G>C (p.Glu2044Asp) c.6135G>C (p.Glu2045Asp) c.6108G>C (p.Glu2036Asp) c.6045G>C (p.Glu2015Asp) c.5916G>C (p.Glu1972Asp) c.5904G>C (p.Glu1968Asp) c.5877G>C (p.Glu1959Asp) n.6461G>C n.6435G>C c.6231G>C (p.Glu2077Asp) c.6225G>C (p.Glu2075Asp) c.6222G>C (p.Glu2074Asp) c.6117G>C (p.Glu2039Asp) c.6114G>C (p.Glu2038Asp) n.6220G>C n.6161G>C n.6206G>C | |
11 | g.77211241G= | CA1984129874 | MYO7A | c.6141G= (p.Glu2047=) c.3942G= c.5994G= (p.Glu1998=) c.3567G= (p.Glu1189=) c.6027G= (p.Glu2009=) n.3677G= n.25+330G= n.1608G= c.6024G= (p.Glu2008=) c.6132G= (p.Glu2044=) c.6135G= (p.Glu2045=) c.6108G= (p.Glu2036=) c.6045G= (p.Glu2015=) c.5916G= (p.Glu1972=) c.5904G= (p.Glu1968=) c.5877G= (p.Glu1959=) n.6461G= n.6435G= c.6231G= (p.Glu2077=) c.6225G= (p.Glu2075=) c.6222G= (p.Glu2074=) c.6117G= (p.Glu2039=) c.6114G= (p.Glu2038=) n.6220G= n.6161G= n.6206G= | |
11 | g.77211241G>T | CA381935897 | MYO7A | c.6141G>T (p.Glu2047Asp) c.3942G>T c.5994G>T (p.Glu1998Asp) c.3567G>T (p.Glu1189Asp) c.6027G>T (p.Glu2009Asp) n.3677G>T n.25+330G>T n.1608G>T c.6024G>T (p.Glu2008Asp) c.6132G>T (p.Glu2044Asp) c.6135G>T (p.Glu2045Asp) c.6108G>T (p.Glu2036Asp) c.6045G>T (p.Glu2015Asp) c.5916G>T (p.Glu1972Asp) c.5904G>T (p.Glu1968Asp) c.5877G>T (p.Glu1959Asp) n.6461G>T n.6435G>T c.6231G>T (p.Glu2077Asp) c.6225G>T (p.Glu2075Asp) c.6222G>T (p.Glu2074Asp) c.6117G>T (p.Glu2039Asp) c.6114G>T (p.Glu2038Asp) n.6220G>T n.6161G>T n.6206G>T | gnomAD v4 |
11 | g.77211242G>A | CA381935898 | MYO7A | c.6142G>A (p.Glu2048Lys) c.3943G>A c.5995G>A (p.Glu1999Lys) c.3568G>A (p.Glu1190Lys) c.6028G>A (p.Glu2010Lys) n.3678G>A n.25+331G>A n.1609G>A c.6025G>A (p.Glu2009Lys) c.6133G>A (p.Glu2045Lys) c.6136G>A (p.Glu2046Lys) c.6109G>A (p.Glu2037Lys) c.6046G>A (p.Glu2016Lys) c.5917G>A (p.Glu1973Lys) c.5905G>A (p.Glu1969Lys) c.5878G>A (p.Glu1960Lys) n.6462G>A n.6436G>A c.6232G>A (p.Glu2078Lys) c.6226G>A (p.Glu2076Lys) c.6223G>A (p.Glu2075Lys) c.6118G>A (p.Glu2040Lys) c.6115G>A (p.Glu2039Lys) n.6221G>A n.6162G>A n.6207G>A | |
11 | g.77211242G>C | CA381935899 | MYO7A | c.6142G>C (p.Glu2048Gln) c.3943G>C c.5995G>C (p.Glu1999Gln) c.3568G>C (p.Glu1190Gln) c.6028G>C (p.Glu2010Gln) n.3678G>C n.25+331G>C n.1609G>C c.6025G>C (p.Glu2009Gln) c.6133G>C (p.Glu2045Gln) c.6136G>C (p.Glu2046Gln) c.6109G>C (p.Glu2037Gln) c.6046G>C (p.Glu2016Gln) c.5917G>C (p.Glu1973Gln) c.5905G>C (p.Glu1969Gln) c.5878G>C (p.Glu1960Gln) n.6462G>C n.6436G>C c.6232G>C (p.Glu2078Gln) c.6226G>C (p.Glu2076Gln) c.6223G>C (p.Glu2075Gln) c.6118G>C (p.Glu2040Gln) c.6115G>C (p.Glu2039Gln) n.6221G>C n.6162G>C n.6207G>C | |
11 | g.77211242G>T | CA381935900 | MYO7A | c.6142G>T (p.Glu2048Ter) c.3943G>T c.5995G>T (p.Glu1999Ter) c.3568G>T (p.Glu1190Ter) c.6028G>T (p.Glu2010Ter) n.3678G>T n.25+331G>T n.1609G>T c.6025G>T (p.Glu2009Ter) c.6133G>T (p.Glu2045Ter) c.6136G>T (p.Glu2046Ter) c.6109G>T (p.Glu2037Ter) c.6046G>T (p.Glu2016Ter) c.5917G>T (p.Glu1973Ter) c.5905G>T (p.Glu1969Ter) c.5878G>T (p.Glu1960Ter) n.6462G>T n.6436G>T c.6232G>T (p.Glu2078Ter) c.6226G>T (p.Glu2076Ter) c.6223G>T (p.Glu2075Ter) c.6118G>T (p.Glu2040Ter) c.6115G>T (p.Glu2039Ter) n.6221G>T n.6162G>T n.6207G>T | gnomAD v4 |
11 | g.77211243A>C | CA381935901 | MYO7A | c.6143A>C (p.Glu2048Ala) c.3944A>C c.5996A>C (p.Glu1999Ala) c.3569A>C (p.Glu1190Ala) c.6029A>C (p.Glu2010Ala) n.3679A>C n.25+332A>C n.1610A>C c.6026A>C (p.Glu2009Ala) c.6134A>C (p.Glu2045Ala) c.6137A>C (p.Glu2046Ala) c.6110A>C (p.Glu2037Ala) c.6047A>C (p.Glu2016Ala) c.5918A>C (p.Glu1973Ala) c.5906A>C (p.Glu1969Ala) c.5879A>C (p.Glu1960Ala) n.6463A>C n.6437A>C c.6233A>C (p.Glu2078Ala) c.6227A>C (p.Glu2076Ala) c.6224A>C (p.Glu2075Ala) c.6119A>C (p.Glu2040Ala) c.6116A>C (p.Glu2039Ala) n.6222A>C n.6163A>C n.6208A>C | |
11 | g.77211243A>G | CA381935902 | MYO7A | c.6143A>G (p.Glu2048Gly) c.3944A>G c.5996A>G (p.Glu1999Gly) c.3569A>G (p.Glu1190Gly) c.6029A>G (p.Glu2010Gly) n.3679A>G n.25+332A>G n.1610A>G c.6026A>G (p.Glu2009Gly) c.6134A>G (p.Glu2045Gly) c.6137A>G (p.Glu2046Gly) c.6110A>G (p.Glu2037Gly) c.6047A>G (p.Glu2016Gly) c.5918A>G (p.Glu1973Gly) c.5906A>G (p.Glu1969Gly) c.5879A>G (p.Glu1960Gly) n.6463A>G n.6437A>G c.6233A>G (p.Glu2078Gly) c.6227A>G (p.Glu2076Gly) c.6224A>G (p.Glu2075Gly) c.6119A>G (p.Glu2040Gly) c.6116A>G (p.Glu2039Gly) n.6222A>G n.6163A>G n.6208A>G | gnomAD v4 |
11 | g.77211243A>T | CA381935904 | MYO7A | c.6143A>T (p.Glu2048Val) c.3944A>T c.5996A>T (p.Glu1999Val) c.3569A>T (p.Glu1190Val) c.6029A>T (p.Glu2010Val) n.3679A>T n.25+332A>T n.1610A>T c.6026A>T (p.Glu2009Val) c.6134A>T (p.Glu2045Val) c.6137A>T (p.Glu2046Val) c.6110A>T (p.Glu2037Val) c.6047A>T (p.Glu2016Val) c.5918A>T (p.Glu1973Val) c.5906A>T (p.Glu1969Val) c.5879A>T (p.Glu1960Val) n.6463A>T n.6437A>T c.6233A>T (p.Glu2078Val) c.6227A>T (p.Glu2076Val) c.6224A>T (p.Glu2075Val) c.6119A>T (p.Glu2040Val) c.6116A>T (p.Glu2039Val) n.6222A>T n.6163A>T n.6208A>T | |
11 | g.77211244G>A | CA475791974 | MYO7A | c.6144G>A (p.Glu2048=) c.3945G>A c.5997G>A (p.Glu1999=) c.3570G>A (p.Glu1190=) c.6030G>A (p.Glu2010=) n.3680G>A n.25+333G>A n.1611G>A c.6027G>A (p.Glu2009=) c.6135G>A (p.Glu2045=) c.6138G>A (p.Glu2046=) c.6111G>A (p.Glu2037=) c.6048G>A (p.Glu2016=) c.5919G>A (p.Glu1973=) c.5907G>A (p.Glu1969=) c.5880G>A (p.Glu1960=) n.6464G>A n.6438G>A c.6234G>A (p.Glu2078=) c.6228G>A (p.Glu2076=) c.6225G>A (p.Glu2075=) c.6120G>A (p.Glu2040=) c.6117G>A (p.Glu2039=) n.6223G>A n.6164G>A n.6209G>A | gnomAD v4 |
11 | g.77211244G>C | CA381935907 | MYO7A | c.6144G>C (p.Glu2048Asp) c.3945G>C c.5997G>C (p.Glu1999Asp) c.3570G>C (p.Glu1190Asp) c.6030G>C (p.Glu2010Asp) n.3680G>C n.25+333G>C n.1611G>C c.6027G>C (p.Glu2009Asp) c.6135G>C (p.Glu2045Asp) c.6138G>C (p.Glu2046Asp) c.6111G>C (p.Glu2037Asp) c.6048G>C (p.Glu2016Asp) c.5919G>C (p.Glu1973Asp) c.5907G>C (p.Glu1969Asp) c.5880G>C (p.Glu1960Asp) n.6464G>C n.6438G>C c.6234G>C (p.Glu2078Asp) c.6228G>C (p.Glu2076Asp) c.6225G>C (p.Glu2075Asp) c.6120G>C (p.Glu2040Asp) c.6117G>C (p.Glu2039Asp) n.6223G>C n.6164G>C n.6209G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.77211244G= | CA1984129875 | MYO7A | c.6144G= (p.Glu2048=) c.3945G= c.5997G= (p.Glu1999=) c.3570G= (p.Glu1190=) c.6030G= (p.Glu2010=) n.3680G= n.25+333G= n.1611G= c.6027G= (p.Glu2009=) c.6135G= (p.Glu2045=) c.6138G= (p.Glu2046=) c.6111G= (p.Glu2037=) c.6048G= (p.Glu2016=) c.5919G= (p.Glu1973=) c.5907G= (p.Glu1969=) c.5880G= (p.Glu1960=) n.6464G= n.6438G= c.6234G= (p.Glu2078=) c.6228G= (p.Glu2076=) c.6225G= (p.Glu2075=) c.6120G= (p.Glu2040=) c.6117G= (p.Glu2039=) n.6223G= n.6164G= n.6209G= | |
11 | g.77211244G>T | CA381935908 | MYO7A | c.6144G>T (p.Glu2048Asp) c.3945G>T c.5997G>T (p.Glu1999Asp) c.3570G>T (p.Glu1190Asp) c.6030G>T (p.Glu2010Asp) n.3680G>T n.25+333G>T n.1611G>T c.6027G>T (p.Glu2009Asp) c.6135G>T (p.Glu2045Asp) c.6138G>T (p.Glu2046Asp) c.6111G>T (p.Glu2037Asp) c.6048G>T (p.Glu2016Asp) c.5919G>T (p.Glu1973Asp) c.5907G>T (p.Glu1969Asp) c.5880G>T (p.Glu1960Asp) n.6464G>T n.6438G>T c.6234G>T (p.Glu2078Asp) c.6228G>T (p.Glu2076Asp) c.6225G>T (p.Glu2075Asp) c.6120G>T (p.Glu2040Asp) c.6117G>T (p.Glu2039Asp) n.6223G>T n.6164G>T n.6209G>T | |
11 | g.77211245G>A | CA381935915 | MYO7A | c.6145G>A (p.Asp2049Asn) c.3946G>A c.5998G>A (p.Asp2000Asn) c.3571G>A (p.Asp1191Asn) c.6031G>A (p.Asp2011Asn) n.3681G>A n.25+334G>A n.1612G>A c.6028G>A (p.Asp2010Asn) c.6136G>A (p.Asp2046Asn) c.6139G>A (p.Asp2047Asn) c.6112G>A (p.Asp2038Asn) c.6049G>A (p.Asp2017Asn) c.5920G>A (p.Asp1974Asn) c.5908G>A (p.Asp1970Asn) c.5881G>A (p.Asp1961Asn) n.6465G>A n.6439G>A c.6235G>A (p.Asp2079Asn) c.6229G>A (p.Asp2077Asn) c.6226G>A (p.Asp2076Asn) c.6121G>A (p.Asp2041Asn) c.6118G>A (p.Asp2040Asn) n.6224G>A n.6165G>A n.6210G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77211245G>C | CA381935913 | MYO7A | c.6145G>C (p.Asp2049His) c.3946G>C c.5998G>C (p.Asp2000His) c.3571G>C (p.Asp1191His) c.6031G>C (p.Asp2011His) n.3681G>C n.25+334G>C n.1612G>C c.6028G>C (p.Asp2010His) c.6136G>C (p.Asp2046His) c.6139G>C (p.Asp2047His) c.6112G>C (p.Asp2038His) c.6049G>C (p.Asp2017His) c.5920G>C (p.Asp1974His) c.5908G>C (p.Asp1970His) c.5881G>C (p.Asp1961His) n.6465G>C n.6439G>C c.6235G>C (p.Asp2079His) c.6229G>C (p.Asp2077His) c.6226G>C (p.Asp2076His) c.6121G>C (p.Asp2041His) c.6118G>C (p.Asp2040His) n.6224G>C n.6165G>C n.6210G>C | |
11 | g.77211245G= | CA1984129876 | MYO7A | c.6145G= (p.Asp2049=) c.3946G= c.5998G= (p.Asp2000=) c.3571G= (p.Asp1191=) c.6031G= (p.Asp2011=) n.3681G= n.25+334G= n.1612G= c.6028G= (p.Asp2010=) c.6136G= (p.Asp2046=) c.6139G= (p.Asp2047=) c.6112G= (p.Asp2038=) c.6049G= (p.Asp2017=) c.5920G= (p.Asp1974=) c.5908G= (p.Asp1970=) c.5881G= (p.Asp1961=) n.6465G= n.6439G= c.6235G= (p.Asp2079=) c.6229G= (p.Asp2077=) c.6226G= (p.Asp2076=) c.6121G= (p.Asp2041=) c.6118G= (p.Asp2040=) n.6224G= n.6165G= n.6210G= | |
11 | g.77211245G>T | CA381935911 | MYO7A | c.6145G>T (p.Asp2049Tyr) c.3946G>T c.5998G>T (p.Asp2000Tyr) c.3571G>T (p.Asp1191Tyr) c.6031G>T (p.Asp2011Tyr) n.3681G>T n.25+334G>T n.1612G>T c.6028G>T (p.Asp2010Tyr) c.6136G>T (p.Asp2046Tyr) c.6139G>T (p.Asp2047Tyr) c.6112G>T (p.Asp2038Tyr) c.6049G>T (p.Asp2017Tyr) c.5920G>T (p.Asp1974Tyr) c.5908G>T (p.Asp1970Tyr) c.5881G>T (p.Asp1961Tyr) n.6465G>T n.6439G>T c.6235G>T (p.Asp2079Tyr) c.6229G>T (p.Asp2077Tyr) c.6226G>T (p.Asp2076Tyr) c.6121G>T (p.Asp2041Tyr) c.6118G>T (p.Asp2040Tyr) n.6224G>T n.6165G>T n.6210G>T | dbSNP gnomAD v4 |
11 | g.77211246A= | CA1984129877 | MYO7A | c.6146A= (p.Asp2049=) c.3947A= c.5999A= (p.Asp2000=) c.3572A= (p.Asp1191=) c.6032A= (p.Asp2011=) n.3682A= n.25+335A= n.1613A= c.6029A= (p.Asp2010=) c.6137A= (p.Asp2046=) c.6140A= (p.Asp2047=) c.6113A= (p.Asp2038=) c.6050A= (p.Asp2017=) c.5921A= (p.Asp1974=) c.5909A= (p.Asp1970=) c.5882A= (p.Asp1961=) n.6466A= n.6440A= c.6236A= (p.Asp2079=) c.6230A= (p.Asp2077=) c.6227A= (p.Asp2076=) c.6122A= (p.Asp2041=) c.6119A= (p.Asp2040=) n.6225A= n.6166A= n.6211A= | |
11 | g.77211246A>C | CA6198941 | MYO7A | c.6146A>C (p.Asp2049Ala) c.3947A>C c.5999A>C (p.Asp2000Ala) c.3572A>C (p.Asp1191Ala) c.6032A>C (p.Asp2011Ala) n.3682A>C n.25+335A>C n.1613A>C c.6029A>C (p.Asp2010Ala) c.6137A>C (p.Asp2046Ala) c.6140A>C (p.Asp2047Ala) c.6113A>C (p.Asp2038Ala) c.6050A>C (p.Asp2017Ala) c.5921A>C (p.Asp1974Ala) c.5909A>C (p.Asp1970Ala) c.5882A>C (p.Asp1961Ala) n.6466A>C n.6440A>C c.6236A>C (p.Asp2079Ala) c.6230A>C (p.Asp2077Ala) c.6227A>C (p.Asp2076Ala) c.6122A>C (p.Asp2041Ala) c.6119A>C (p.Asp2040Ala) n.6225A>C n.6166A>C n.6211A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77211246A>G | CA381935918 | MYO7A | c.6146A>G (p.Asp2049Gly) c.3947A>G c.5999A>G (p.Asp2000Gly) c.3572A>G (p.Asp1191Gly) c.6032A>G (p.Asp2011Gly) n.3682A>G n.25+335A>G n.1613A>G c.6029A>G (p.Asp2010Gly) c.6137A>G (p.Asp2046Gly) c.6140A>G (p.Asp2047Gly) c.6113A>G (p.Asp2038Gly) c.6050A>G (p.Asp2017Gly) c.5921A>G (p.Asp1974Gly) c.5909A>G (p.Asp1970Gly) c.5882A>G (p.Asp1961Gly) n.6466A>G n.6440A>G c.6236A>G (p.Asp2079Gly) c.6230A>G (p.Asp2077Gly) c.6227A>G (p.Asp2076Gly) c.6122A>G (p.Asp2041Gly) c.6119A>G (p.Asp2040Gly) n.6225A>G n.6166A>G n.6211A>G | |
11 | g.77211246A>T | CA381935920 | MYO7A | c.6146A>T (p.Asp2049Val) c.3947A>T c.5999A>T (p.Asp2000Val) c.3572A>T (p.Asp1191Val) c.6032A>T (p.Asp2011Val) n.3682A>T n.25+335A>T n.1613A>T c.6029A>T (p.Asp2010Val) c.6137A>T (p.Asp2046Val) c.6140A>T (p.Asp2047Val) c.6113A>T (p.Asp2038Val) c.6050A>T (p.Asp2017Val) c.5921A>T (p.Asp1974Val) c.5909A>T (p.Asp1970Val) c.5882A>T (p.Asp1961Val) n.6466A>T n.6440A>T c.6236A>T (p.Asp2079Val) c.6230A>T (p.Asp2077Val) c.6227A>T (p.Asp2076Val) c.6122A>T (p.Asp2041Val) c.6119A>T (p.Asp2040Val) n.6225A>T n.6166A>T n.6211A>T | |
11 | g.77211247C>A | CA381935922 | MYO7A | c.6147C>A (p.Asp2049Glu) c.3948C>A c.6000C>A (p.Asp2000Glu) c.3573C>A (p.Asp1191Glu) c.6033C>A (p.Asp2011Glu) n.3683C>A n.25+336C>A n.1614C>A c.6030C>A (p.Asp2010Glu) c.6138C>A (p.Asp2046Glu) c.6141C>A (p.Asp2047Glu) c.6114C>A (p.Asp2038Glu) c.6051C>A (p.Asp2017Glu) c.5922C>A (p.Asp1974Glu) c.5910C>A (p.Asp1970Glu) c.5883C>A (p.Asp1961Glu) n.6467C>A n.6441C>A c.6237C>A (p.Asp2079Glu) c.6231C>A (p.Asp2077Glu) c.6228C>A (p.Asp2076Glu) c.6123C>A (p.Asp2041Glu) c.6120C>A (p.Asp2040Glu) n.6226C>A n.6167C>A n.6212C>A | gnomAD v4 |
11 | g.77211247C>G | CA381935925 | MYO7A | c.6147C>G (p.Asp2049Glu) c.3948C>G c.6000C>G (p.Asp2000Glu) c.3573C>G (p.Asp1191Glu) c.6033C>G (p.Asp2011Glu) n.3683C>G n.25+336C>G n.1614C>G c.6030C>G (p.Asp2010Glu) c.6138C>G (p.Asp2046Glu) c.6141C>G (p.Asp2047Glu) c.6114C>G (p.Asp2038Glu) c.6051C>G (p.Asp2017Glu) c.5922C>G (p.Asp1974Glu) c.5910C>G (p.Asp1970Glu) c.5883C>G (p.Asp1961Glu) n.6467C>G n.6441C>G c.6237C>G (p.Asp2079Glu) c.6231C>G (p.Asp2077Glu) c.6228C>G (p.Asp2076Glu) c.6123C>G (p.Asp2041Glu) c.6120C>G (p.Asp2040Glu) n.6226C>G n.6167C>G n.6212C>G | |
11 | g.77211247C>T | CA475791975 | MYO7A | c.6147C>T (p.Asp2049=) c.3948C>T c.6000C>T (p.Asp2000=) c.3573C>T (p.Asp1191=) c.6033C>T (p.Asp2011=) n.3683C>T n.25+336C>T n.1614C>T c.6030C>T (p.Asp2010=) c.6138C>T (p.Asp2046=) c.6141C>T (p.Asp2047=) c.6114C>T (p.Asp2038=) c.6051C>T (p.Asp2017=) c.5922C>T (p.Asp1974=) c.5910C>T (p.Asp1970=) c.5883C>T (p.Asp1961=) n.6467C>T n.6441C>T c.6237C>T (p.Asp2079=) c.6231C>T (p.Asp2077=) c.6228C>T (p.Asp2076=) c.6123C>T (p.Asp2041=) c.6120C>T (p.Asp2040=) n.6226C>T n.6167C>T n.6212C>T | |
11 | g.77211248A>C | CA381935928 | MYO7A | c.6148A>C (p.Lys2050Gln) c.3949A>C c.6001A>C (p.Lys2001Gln) c.3574A>C (p.Lys1192Gln) c.6034A>C (p.Lys2012Gln) n.3684A>C n.25+337A>C n.1615A>C c.6031A>C (p.Lys2011Gln) c.6139A>C (p.Lys2047Gln) c.6142A>C (p.Lys2048Gln) c.6115A>C (p.Lys2039Gln) c.6052A>C (p.Lys2018Gln) c.5923A>C (p.Lys1975Gln) c.5911A>C (p.Lys1971Gln) c.5884A>C (p.Lys1962Gln) n.6468A>C n.6442A>C c.6238A>C (p.Lys2080Gln) c.6232A>C (p.Lys2078Gln) c.6229A>C (p.Lys2077Gln) c.6124A>C (p.Lys2042Gln) c.6121A>C (p.Lys2041Gln) n.6227A>C n.6168A>C n.6213A>C | |
11 | g.77211248A>G | CA381935930 | MYO7A | c.6148A>G (p.Lys2050Glu) c.3949A>G c.6001A>G (p.Lys2001Glu) c.3574A>G (p.Lys1192Glu) c.6034A>G (p.Lys2012Glu) n.3684A>G n.25+337A>G n.1615A>G c.6031A>G (p.Lys2011Glu) c.6139A>G (p.Lys2047Glu) c.6142A>G (p.Lys2048Glu) c.6115A>G (p.Lys2039Glu) c.6052A>G (p.Lys2018Glu) c.5923A>G (p.Lys1975Glu) c.5911A>G (p.Lys1971Glu) c.5884A>G (p.Lys1962Glu) n.6468A>G n.6442A>G c.6238A>G (p.Lys2080Glu) c.6232A>G (p.Lys2078Glu) c.6229A>G (p.Lys2077Glu) c.6124A>G (p.Lys2042Glu) c.6121A>G (p.Lys2041Glu) n.6227A>G n.6168A>G n.6213A>G | |
11 | g.77211248A>T | CA381935932 | MYO7A | c.6148A>T (p.Lys2050Ter) c.3949A>T c.6001A>T (p.Lys2001Ter) c.3574A>T (p.Lys1192Ter) c.6034A>T (p.Lys2012Ter) n.3684A>T n.25+337A>T n.1615A>T c.6031A>T (p.Lys2011Ter) c.6139A>T (p.Lys2047Ter) c.6142A>T (p.Lys2048Ter) c.6115A>T (p.Lys2039Ter) c.6052A>T (p.Lys2018Ter) c.5923A>T (p.Lys1975Ter) c.5911A>T (p.Lys1971Ter) c.5884A>T (p.Lys1962Ter) n.6468A>T n.6442A>T c.6238A>T (p.Lys2080Ter) c.6232A>T (p.Lys2078Ter) c.6229A>T (p.Lys2077Ter) c.6124A>T (p.Lys2042Ter) c.6121A>T (p.Lys2041Ter) n.6227A>T n.6168A>T n.6213A>T | |
11 | g.77211249A>C | CA381935936 | MYO7A | c.6149A>C (p.Lys2050Thr) c.3950A>C c.6002A>C (p.Lys2001Thr) c.3575A>C (p.Lys1192Thr) c.6035A>C (p.Lys2012Thr) n.3685A>C n.25+338A>C n.1616A>C c.6032A>C (p.Lys2011Thr) c.6140A>C (p.Lys2047Thr) c.6143A>C (p.Lys2048Thr) c.6116A>C (p.Lys2039Thr) c.6053A>C (p.Lys2018Thr) c.5924A>C (p.Lys1975Thr) c.5912A>C (p.Lys1971Thr) c.5885A>C (p.Lys1962Thr) n.6469A>C n.6443A>C c.6239A>C (p.Lys2080Thr) c.6233A>C (p.Lys2078Thr) c.6230A>C (p.Lys2077Thr) c.6125A>C (p.Lys2042Thr) c.6122A>C (p.Lys2041Thr) n.6228A>C n.6169A>C n.6214A>C | |
11 | g.77211249A>G | CA381935938 | MYO7A | c.6149A>G (p.Lys2050Arg) c.3950A>G c.6002A>G (p.Lys2001Arg) c.3575A>G (p.Lys1192Arg) c.6035A>G (p.Lys2012Arg) n.3685A>G n.25+338A>G n.1616A>G c.6032A>G (p.Lys2011Arg) c.6140A>G (p.Lys2047Arg) c.6143A>G (p.Lys2048Arg) c.6116A>G (p.Lys2039Arg) c.6053A>G (p.Lys2018Arg) c.5924A>G (p.Lys1975Arg) c.5912A>G (p.Lys1971Arg) c.5885A>G (p.Lys1962Arg) n.6469A>G n.6443A>G c.6239A>G (p.Lys2080Arg) c.6233A>G (p.Lys2078Arg) c.6230A>G (p.Lys2077Arg) c.6125A>G (p.Lys2042Arg) c.6122A>G (p.Lys2041Arg) n.6228A>G n.6169A>G n.6214A>G | |
11 | g.77211249A>T | CA381935940 | MYO7A | c.6149A>T (p.Lys2050Met) c.3950A>T c.6002A>T (p.Lys2001Met) c.3575A>T (p.Lys1192Met) c.6035A>T (p.Lys2012Met) n.3685A>T n.25+338A>T n.1616A>T c.6032A>T (p.Lys2011Met) c.6140A>T (p.Lys2047Met) c.6143A>T (p.Lys2048Met) c.6116A>T (p.Lys2039Met) c.6053A>T (p.Lys2018Met) c.5924A>T (p.Lys1975Met) c.5912A>T (p.Lys1971Met) c.5885A>T (p.Lys1962Met) n.6469A>T n.6443A>T c.6239A>T (p.Lys2080Met) c.6233A>T (p.Lys2078Met) c.6230A>T (p.Lys2077Met) c.6125A>T (p.Lys2042Met) c.6122A>T (p.Lys2041Met) n.6228A>T n.6169A>T n.6214A>T | |
11 | g.77211250G>A | CA6198942 | MYO7A | c.6150G>A (p.Lys2050=) c.3951G>A c.6003G>A (p.Lys2001=) c.3576G>A (p.Lys1192=) c.6036G>A (p.Lys2012=) n.3686G>A n.25+339G>A n.1617G>A c.6033G>A (p.Lys2011=) c.6141G>A (p.Lys2047=) c.6144G>A (p.Lys2048=) c.6117G>A (p.Lys2039=) c.6054G>A (p.Lys2018=) c.5925G>A (p.Lys1975=) c.5913G>A (p.Lys1971=) c.5886G>A (p.Lys1962=) n.6470G>A n.6444G>A c.6240G>A (p.Lys2080=) c.6234G>A (p.Lys2078=) c.6231G>A (p.Lys2077=) c.6126G>A (p.Lys2042=) c.6123G>A (p.Lys2041=) n.6229G>A n.6170G>A n.6215G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77211250G>C | CA381935945 | MYO7A | c.6150G>C (p.Lys2050Asn) c.3951G>C c.6003G>C (p.Lys2001Asn) c.3576G>C (p.Lys1192Asn) c.6036G>C (p.Lys2012Asn) n.3686G>C n.25+339G>C n.1617G>C c.6033G>C (p.Lys2011Asn) c.6141G>C (p.Lys2047Asn) c.6144G>C (p.Lys2048Asn) c.6117G>C (p.Lys2039Asn) c.6054G>C (p.Lys2018Asn) c.5925G>C (p.Lys1975Asn) c.5913G>C (p.Lys1971Asn) c.5886G>C (p.Lys1962Asn) n.6470G>C n.6444G>C c.6240G>C (p.Lys2080Asn) c.6234G>C (p.Lys2078Asn) c.6231G>C (p.Lys2077Asn) c.6126G>C (p.Lys2042Asn) c.6123G>C (p.Lys2041Asn) n.6229G>C n.6170G>C n.6215G>C | |
11 | g.77211250G= | CA1984129878 | MYO7A | c.6150G= (p.Lys2050=) c.3951G= c.6003G= (p.Lys2001=) c.3576G= (p.Lys1192=) c.6036G= (p.Lys2012=) n.3686G= n.25+339G= n.1617G= c.6033G= (p.Lys2011=) c.6141G= (p.Lys2047=) c.6144G= (p.Lys2048=) c.6117G= (p.Lys2039=) c.6054G= (p.Lys2018=) c.5925G= (p.Lys1975=) c.5913G= (p.Lys1971=) c.5886G= (p.Lys1962=) n.6470G= n.6444G= c.6240G= (p.Lys2080=) c.6234G= (p.Lys2078=) c.6231G= (p.Lys2077=) c.6126G= (p.Lys2042=) c.6123G= (p.Lys2041=) n.6229G= n.6170G= n.6215G= | |
11 | g.77211250G>T | CA381935942 | MYO7A | c.6150G>T (p.Lys2050Asn) c.3951G>T c.6003G>T (p.Lys2001Asn) c.3576G>T (p.Lys1192Asn) c.6036G>T (p.Lys2012Asn) n.3686G>T n.25+339G>T n.1617G>T c.6033G>T (p.Lys2011Asn) c.6141G>T (p.Lys2047Asn) c.6144G>T (p.Lys2048Asn) c.6117G>T (p.Lys2039Asn) c.6054G>T (p.Lys2018Asn) c.5925G>T (p.Lys1975Asn) c.5913G>T (p.Lys1971Asn) c.5886G>T (p.Lys1962Asn) n.6470G>T n.6444G>T c.6240G>T (p.Lys2080Asn) c.6234G>T (p.Lys2078Asn) c.6231G>T (p.Lys2077Asn) c.6126G>T (p.Lys2042Asn) c.6123G>T (p.Lys2041Asn) n.6229G>T n.6170G>T n.6215G>T | gnomAD v4 |
11 | g.77211251T>A | CA381935948 | MYO7A | c.6151T>A (p.Ser2051Thr) c.3952T>A c.6004T>A (p.Ser2002Thr) c.3577T>A (p.Ser1193Thr) c.6037T>A (p.Ser2013Thr) n.3687T>A n.25+340T>A n.1618T>A c.6034T>A (p.Ser2012Thr) c.6142T>A (p.Ser2048Thr) c.6145T>A (p.Ser2049Thr) c.6118T>A (p.Ser2040Thr) c.6055T>A (p.Ser2019Thr) c.5926T>A (p.Ser1976Thr) c.5914T>A (p.Ser1972Thr) c.5887T>A (p.Ser1963Thr) n.6471T>A n.6445T>A c.6241T>A (p.Ser2081Thr) c.6235T>A (p.Ser2079Thr) c.6232T>A (p.Ser2078Thr) c.6127T>A (p.Ser2043Thr) c.6124T>A (p.Ser2042Thr) n.6230T>A n.6171T>A n.6216T>A | |
11 | g.77211251T>C | CA381935950 | MYO7A | c.6151T>C (p.Ser2051Pro) c.3952T>C c.6004T>C (p.Ser2002Pro) c.3577T>C (p.Ser1193Pro) c.6037T>C (p.Ser2013Pro) n.3687T>C n.25+340T>C n.1618T>C c.6034T>C (p.Ser2012Pro) c.6142T>C (p.Ser2048Pro) c.6145T>C (p.Ser2049Pro) c.6118T>C (p.Ser2040Pro) c.6055T>C (p.Ser2019Pro) c.5926T>C (p.Ser1976Pro) c.5914T>C (p.Ser1972Pro) c.5887T>C (p.Ser1963Pro) n.6471T>C n.6445T>C c.6241T>C (p.Ser2081Pro) c.6235T>C (p.Ser2079Pro) c.6232T>C (p.Ser2078Pro) c.6127T>C (p.Ser2043Pro) c.6124T>C (p.Ser2042Pro) n.6230T>C n.6171T>C n.6216T>C | |
11 | g.77211251T>G | CA381935952 | MYO7A | c.6151T>G (p.Ser2051Ala) c.3952T>G c.6004T>G (p.Ser2002Ala) c.3577T>G (p.Ser1193Ala) c.6037T>G (p.Ser2013Ala) n.3687T>G n.25+340T>G n.1618T>G c.6034T>G (p.Ser2012Ala) c.6142T>G (p.Ser2048Ala) c.6145T>G (p.Ser2049Ala) c.6118T>G (p.Ser2040Ala) c.6055T>G (p.Ser2019Ala) c.5926T>G (p.Ser1976Ala) c.5914T>G (p.Ser1972Ala) c.5887T>G (p.Ser1963Ala) n.6471T>G n.6445T>G c.6241T>G (p.Ser2081Ala) c.6235T>G (p.Ser2079Ala) c.6232T>G (p.Ser2078Ala) c.6127T>G (p.Ser2043Ala) c.6124T>G (p.Ser2042Ala) n.6230T>G n.6171T>G n.6216T>G | |
11 | g.77211252C>A | CA381935956 | MYO7A | c.6152C>A (p.Ser2051Tyr) c.3953C>A c.6005C>A (p.Ser2002Tyr) c.3578C>A (p.Ser1193Tyr) c.6038C>A (p.Ser2013Tyr) n.3688C>A n.25+341C>A n.1619C>A c.6035C>A (p.Ser2012Tyr) c.6143C>A (p.Ser2048Tyr) c.6146C>A (p.Ser2049Tyr) c.6119C>A (p.Ser2040Tyr) c.6056C>A (p.Ser2019Tyr) c.5927C>A (p.Ser1976Tyr) c.5915C>A (p.Ser1972Tyr) c.5888C>A (p.Ser1963Tyr) n.6472C>A n.6446C>A c.6242C>A (p.Ser2081Tyr) c.6236C>A (p.Ser2079Tyr) c.6233C>A (p.Ser2078Tyr) c.6128C>A (p.Ser2043Tyr) c.6125C>A (p.Ser2042Tyr) n.6231C>A n.6172C>A n.6217C>A | gnomAD v4 |
11 | g.77211252C>G | CA381935958 | MYO7A | c.6152C>G (p.Ser2051Cys) c.3953C>G c.6005C>G (p.Ser2002Cys) c.3578C>G (p.Ser1193Cys) c.6038C>G (p.Ser2013Cys) n.3688C>G n.25+341C>G n.1619C>G c.6035C>G (p.Ser2012Cys) c.6143C>G (p.Ser2048Cys) c.6146C>G (p.Ser2049Cys) c.6119C>G (p.Ser2040Cys) c.6056C>G (p.Ser2019Cys) c.5927C>G (p.Ser1976Cys) c.5915C>G (p.Ser1972Cys) c.5888C>G (p.Ser1963Cys) n.6472C>G n.6446C>G c.6242C>G (p.Ser2081Cys) c.6236C>G (p.Ser2079Cys) c.6233C>G (p.Ser2078Cys) c.6128C>G (p.Ser2043Cys) c.6125C>G (p.Ser2042Cys) n.6231C>G n.6172C>G n.6217C>G | |
11 | g.77211252C>T | CA381935960 | MYO7A | c.6152C>T (p.Ser2051Phe) c.3953C>T c.6005C>T (p.Ser2002Phe) c.3578C>T (p.Ser1193Phe) c.6038C>T (p.Ser2013Phe) n.3688C>T n.25+341C>T n.1619C>T c.6035C>T (p.Ser2012Phe) c.6143C>T (p.Ser2048Phe) c.6146C>T (p.Ser2049Phe) c.6119C>T (p.Ser2040Phe) c.6056C>T (p.Ser2019Phe) c.5927C>T (p.Ser1976Phe) c.5915C>T (p.Ser1972Phe) c.5888C>T (p.Ser1963Phe) n.6472C>T n.6446C>T c.6242C>T (p.Ser2081Phe) c.6236C>T (p.Ser2079Phe) c.6233C>T (p.Ser2078Phe) c.6128C>T (p.Ser2043Phe) c.6125C>T (p.Ser2042Phe) n.6231C>T n.6172C>T n.6217C>T | |
11 | g.77211253C>A | CA475791981 | MYO7A | c.6153C>A (p.Ser2051=) c.3954C>A c.6006C>A (p.Ser2002=) c.3579C>A (p.Ser1193=) c.6039C>A (p.Ser2013=) n.3689C>A n.25+342C>A n.1620C>A c.6036C>A (p.Ser2012=) c.6144C>A (p.Ser2048=) c.6147C>A (p.Ser2049=) c.6120C>A (p.Ser2040=) c.6057C>A (p.Ser2019=) c.5928C>A (p.Ser1976=) c.5916C>A (p.Ser1972=) c.5889C>A (p.Ser1963=) n.6473C>A n.6447C>A c.6243C>A (p.Ser2081=) c.6237C>A (p.Ser2079=) c.6234C>A (p.Ser2078=) c.6129C>A (p.Ser2043=) c.6126C>A (p.Ser2042=) n.6232C>A n.6173C>A n.6218C>A | |
11 | g.77211253C>G | CA475791982 | MYO7A | c.6153C>G (p.Ser2051=) c.3954C>G c.6006C>G (p.Ser2002=) c.3579C>G (p.Ser1193=) c.6039C>G (p.Ser2013=) n.3689C>G n.25+342C>G n.1620C>G c.6036C>G (p.Ser2012=) c.6144C>G (p.Ser2048=) c.6147C>G (p.Ser2049=) c.6120C>G (p.Ser2040=) c.6057C>G (p.Ser2019=) c.5928C>G (p.Ser1976=) c.5916C>G (p.Ser1972=) c.5889C>G (p.Ser1963=) n.6473C>G n.6447C>G c.6243C>G (p.Ser2081=) c.6237C>G (p.Ser2079=) c.6234C>G (p.Ser2078=) c.6129C>G (p.Ser2043=) c.6126C>G (p.Ser2042=) n.6232C>G n.6173C>G n.6218C>G | ClinVar |
11 | g.77211253C>T | CA475791983 | MYO7A | c.6153C>T (p.Ser2051=) c.3954C>T c.6006C>T (p.Ser2002=) c.3579C>T (p.Ser1193=) c.6039C>T (p.Ser2013=) n.3689C>T n.25+342C>T n.1620C>T c.6036C>T (p.Ser2012=) c.6144C>T (p.Ser2048=) c.6147C>T (p.Ser2049=) c.6120C>T (p.Ser2040=) c.6057C>T (p.Ser2019=) c.5928C>T (p.Ser1976=) c.5916C>T (p.Ser1972=) c.5889C>T (p.Ser1963=) n.6473C>T n.6447C>T c.6243C>T (p.Ser2081=) c.6237C>T (p.Ser2079=) c.6234C>T (p.Ser2078=) c.6129C>T (p.Ser2043=) c.6126C>T (p.Ser2042=) n.6232C>T n.6173C>T n.6218C>T | |
11 | g.77211255_77211257del | CA2739265962 | MYO7A | c.6155_6157del (p.Tyr2052del) c.3956_3958del c.6008_6010del (p.Tyr2003del) c.3581_3583del (p.Tyr1194del) c.6041_6043del (p.Tyr2014del) n.3691_3693del n.25+344_25+346del n.1622_1624del c.6038_6040del (p.Tyr2013del) c.6146_6148del (p.Tyr2049del) c.6149_6151del (p.Tyr2050del) c.6122_6124del (p.Tyr2041del) c.6059_6061del (p.Tyr2020del) c.5930_5932del (p.Tyr1977del) c.5918_5920del (p.Tyr1973del) c.5891_5893del (p.Tyr1964del) n.6475_6477del n.6449_6451del c.6245_6247del (p.Tyr2082del) c.6239_6241del (p.Tyr2080del) c.6236_6238del (p.Tyr2079del) c.6131_6133del (p.Tyr2044del) c.6128_6130del (p.Tyr2043del) n.6234_6236del n.6175_6177del n.6220_6222del | ClinVar |
11 | g.77211254T>A | CA381935968 | MYO7A | c.6154T>A (p.Tyr2052Asn) c.3955T>A c.6007T>A (p.Tyr2003Asn) c.3580T>A (p.Tyr1194Asn) c.6040T>A (p.Tyr2014Asn) n.3690T>A n.25+343T>A n.1621T>A c.6037T>A (p.Tyr2013Asn) c.6145T>A (p.Tyr2049Asn) c.6148T>A (p.Tyr2050Asn) c.6121T>A (p.Tyr2041Asn) c.6058T>A (p.Tyr2020Asn) c.5929T>A (p.Tyr1977Asn) c.5917T>A (p.Tyr1973Asn) c.5890T>A (p.Tyr1964Asn) n.6474T>A n.6448T>A c.6244T>A (p.Tyr2082Asn) c.6238T>A (p.Tyr2080Asn) c.6235T>A (p.Tyr2079Asn) c.6130T>A (p.Tyr2044Asn) c.6127T>A (p.Tyr2043Asn) n.6233T>A n.6174T>A n.6219T>A | |
11 | g.77211254T>C | CA381935964 | MYO7A | c.6154T>C (p.Tyr2052His) c.3955T>C c.6007T>C (p.Tyr2003His) c.3580T>C (p.Tyr1194His) c.6040T>C (p.Tyr2014His) n.3690T>C n.25+343T>C n.1621T>C c.6037T>C (p.Tyr2013His) c.6145T>C (p.Tyr2049His) c.6148T>C (p.Tyr2050His) c.6121T>C (p.Tyr2041His) c.6058T>C (p.Tyr2020His) c.5929T>C (p.Tyr1977His) c.5917T>C (p.Tyr1973His) c.5890T>C (p.Tyr1964His) n.6474T>C n.6448T>C c.6244T>C (p.Tyr2082His) c.6238T>C (p.Tyr2080His) c.6235T>C (p.Tyr2079His) c.6130T>C (p.Tyr2044His) c.6127T>C (p.Tyr2043His) n.6233T>C n.6174T>C n.6219T>C | gnomAD v4 |
11 | g.77211254T>G | CA381935966 | MYO7A | c.6154T>G (p.Tyr2052Asp) c.3955T>G c.6007T>G (p.Tyr2003Asp) c.3580T>G (p.Tyr1194Asp) c.6040T>G (p.Tyr2014Asp) n.3690T>G n.25+343T>G n.1621T>G c.6037T>G (p.Tyr2013Asp) c.6145T>G (p.Tyr2049Asp) c.6148T>G (p.Tyr2050Asp) c.6121T>G (p.Tyr2041Asp) c.6058T>G (p.Tyr2020Asp) c.5929T>G (p.Tyr1977Asp) c.5917T>G (p.Tyr1973Asp) c.5890T>G (p.Tyr1964Asp) n.6474T>G n.6448T>G c.6244T>G (p.Tyr2082Asp) c.6238T>G (p.Tyr2080Asp) c.6235T>G (p.Tyr2079Asp) c.6130T>G (p.Tyr2044Asp) c.6127T>G (p.Tyr2043Asp) n.6233T>G n.6174T>G n.6219T>G | ClinVar dbSNP |
11 | g.77211254T= | CA1984129879 | MYO7A | c.6154T= (p.Tyr2052=) c.3955T= c.6007T= (p.Tyr2003=) c.3580T= (p.Tyr1194=) c.6040T= (p.Tyr2014=) n.3690T= n.25+343T= n.1621T= c.6037T= (p.Tyr2013=) c.6145T= (p.Tyr2049=) c.6148T= (p.Tyr2050=) c.6121T= (p.Tyr2041=) c.6058T= (p.Tyr2020=) c.5929T= (p.Tyr1977=) c.5917T= (p.Tyr1973=) c.5890T= (p.Tyr1964=) n.6474T= n.6448T= c.6244T= (p.Tyr2082=) c.6238T= (p.Tyr2080=) c.6235T= (p.Tyr2079=) c.6130T= (p.Tyr2044=) c.6127T= (p.Tyr2043=) n.6233T= n.6174T= n.6219T= | |
11 | g.77211255A= | CA1984129880 | MYO7A | c.6155A= (p.Tyr2052=) c.3956A= c.6008A= (p.Tyr2003=) c.3581A= (p.Tyr1194=) c.6041A= (p.Tyr2014=) n.3691A= n.25+344A= n.1622A= c.6038A= (p.Tyr2013=) c.6146A= (p.Tyr2049=) c.6149A= (p.Tyr2050=) c.6122A= (p.Tyr2041=) c.6059A= (p.Tyr2020=) c.5930A= (p.Tyr1977=) c.5918A= (p.Tyr1973=) c.5891A= (p.Tyr1964=) n.6475A= n.6449A= c.6245A= (p.Tyr2082=) c.6239A= (p.Tyr2080=) c.6236A= (p.Tyr2079=) c.6131A= (p.Tyr2044=) c.6128A= (p.Tyr2043=) n.6234A= n.6175A= n.6220A= | |
11 | g.77211255A>C | CA381935971 | MYO7A | c.6155A>C (p.Tyr2052Ser) c.3956A>C c.6008A>C (p.Tyr2003Ser) c.3581A>C (p.Tyr1194Ser) c.6041A>C (p.Tyr2014Ser) n.3691A>C n.25+344A>C n.1622A>C c.6038A>C (p.Tyr2013Ser) c.6146A>C (p.Tyr2049Ser) c.6149A>C (p.Tyr2050Ser) c.6122A>C (p.Tyr2041Ser) c.6059A>C (p.Tyr2020Ser) c.5930A>C (p.Tyr1977Ser) c.5918A>C (p.Tyr1973Ser) c.5891A>C (p.Tyr1964Ser) n.6475A>C n.6449A>C c.6245A>C (p.Tyr2082Ser) c.6239A>C (p.Tyr2080Ser) c.6236A>C (p.Tyr2079Ser) c.6131A>C (p.Tyr2044Ser) c.6128A>C (p.Tyr2043Ser) n.6234A>C n.6175A>C n.6220A>C | gnomAD v4 |
11 | g.77211255A>G | CA224827717 | MYO7A | c.6155A>G (p.Tyr2052Cys) c.3956A>G c.6008A>G (p.Tyr2003Cys) c.3581A>G (p.Tyr1194Cys) c.6041A>G (p.Tyr2014Cys) n.3691A>G n.25+344A>G n.1622A>G c.6038A>G (p.Tyr2013Cys) c.6146A>G (p.Tyr2049Cys) c.6149A>G (p.Tyr2050Cys) c.6122A>G (p.Tyr2041Cys) c.6059A>G (p.Tyr2020Cys) c.5930A>G (p.Tyr1977Cys) c.5918A>G (p.Tyr1973Cys) c.5891A>G (p.Tyr1964Cys) n.6475A>G n.6449A>G c.6245A>G (p.Tyr2082Cys) c.6239A>G (p.Tyr2080Cys) c.6236A>G (p.Tyr2079Cys) c.6131A>G (p.Tyr2044Cys) c.6128A>G (p.Tyr2043Cys) n.6234A>G n.6175A>G n.6220A>G | dbSNP gnomAD v4 |
11 | g.77211255A>T | CA381935975 | MYO7A | c.6155A>T (p.Tyr2052Phe) c.3956A>T c.6008A>T (p.Tyr2003Phe) c.3581A>T (p.Tyr1194Phe) c.6041A>T (p.Tyr2014Phe) n.3691A>T n.25+344A>T n.1622A>T c.6038A>T (p.Tyr2013Phe) c.6146A>T (p.Tyr2049Phe) c.6149A>T (p.Tyr2050Phe) c.6122A>T (p.Tyr2041Phe) c.6059A>T (p.Tyr2020Phe) c.5930A>T (p.Tyr1977Phe) c.5918A>T (p.Tyr1973Phe) c.5891A>T (p.Tyr1964Phe) n.6475A>T n.6449A>T c.6245A>T (p.Tyr2082Phe) c.6239A>T (p.Tyr2080Phe) c.6236A>T (p.Tyr2079Phe) c.6131A>T (p.Tyr2044Phe) c.6128A>T (p.Tyr2043Phe) n.6234A>T n.6175A>T n.6220A>T | |
11 | g.77211256C>A | CA381935978 | MYO7A | c.6156C>A (p.Tyr2052Ter) c.3957C>A c.6009C>A (p.Tyr2003Ter) c.3582C>A (p.Tyr1194Ter) c.6042C>A (p.Tyr2014Ter) n.3692C>A n.25+345C>A n.1623C>A c.6039C>A (p.Tyr2013Ter) c.6147C>A (p.Tyr2049Ter) c.6150C>A (p.Tyr2050Ter) c.6123C>A (p.Tyr2041Ter) c.6060C>A (p.Tyr2020Ter) c.5931C>A (p.Tyr1977Ter) c.5919C>A (p.Tyr1973Ter) c.5892C>A (p.Tyr1964Ter) n.6476C>A n.6450C>A c.6246C>A (p.Tyr2082Ter) c.6240C>A (p.Tyr2080Ter) c.6237C>A (p.Tyr2079Ter) c.6132C>A (p.Tyr2044Ter) c.6129C>A (p.Tyr2043Ter) n.6235C>A n.6176C>A n.6221C>A | |
11 | g.77211256C= | CA1984129881 | MYO7A | c.6156C= (p.Tyr2052=) c.3957C= c.6009C= (p.Tyr2003=) c.3582C= (p.Tyr1194=) c.6042C= (p.Tyr2014=) n.3692C= n.25+345C= n.1623C= c.6039C= (p.Tyr2013=) c.6147C= (p.Tyr2049=) c.6150C= (p.Tyr2050=) c.6123C= (p.Tyr2041=) c.6060C= (p.Tyr2020=) c.5931C= (p.Tyr1977=) c.5919C= (p.Tyr1973=) c.5892C= (p.Tyr1964=) n.6476C= n.6450C= c.6246C= (p.Tyr2082=) c.6240C= (p.Tyr2080=) c.6237C= (p.Tyr2079=) c.6132C= (p.Tyr2044=) c.6129C= (p.Tyr2043=) n.6235C= n.6176C= n.6221C= | |
11 | g.77211256C>G | CA381935981 | MYO7A | c.6156C>G (p.Tyr2052Ter) c.3957C>G c.6009C>G (p.Tyr2003Ter) c.3582C>G (p.Tyr1194Ter) c.6042C>G (p.Tyr2014Ter) n.3692C>G n.25+345C>G n.1623C>G c.6039C>G (p.Tyr2013Ter) c.6147C>G (p.Tyr2049Ter) c.6150C>G (p.Tyr2050Ter) c.6123C>G (p.Tyr2041Ter) c.6060C>G (p.Tyr2020Ter) c.5931C>G (p.Tyr1977Ter) c.5919C>G (p.Tyr1973Ter) c.5892C>G (p.Tyr1964Ter) n.6476C>G n.6450C>G c.6246C>G (p.Tyr2082Ter) c.6240C>G (p.Tyr2080Ter) c.6237C>G (p.Tyr2079Ter) c.6132C>G (p.Tyr2044Ter) c.6129C>G (p.Tyr2043Ter) n.6235C>G n.6176C>G n.6221C>G | |
11 | g.77211256C>T | CA475791987 | MYO7A | c.6156C>T (p.Tyr2052=) c.3957C>T c.6009C>T (p.Tyr2003=) c.3582C>T (p.Tyr1194=) c.6042C>T (p.Tyr2014=) n.3692C>T n.25+345C>T n.1623C>T c.6039C>T (p.Tyr2013=) c.6147C>T (p.Tyr2049=) c.6150C>T (p.Tyr2050=) c.6123C>T (p.Tyr2041=) c.6060C>T (p.Tyr2020=) c.5931C>T (p.Tyr1977=) c.5919C>T (p.Tyr1973=) c.5892C>T (p.Tyr1964=) n.6476C>T n.6450C>T c.6246C>T (p.Tyr2082=) c.6240C>T (p.Tyr2080=) c.6237C>T (p.Tyr2079=) c.6132C>T (p.Tyr2044=) c.6129C>T (p.Tyr2043=) n.6235C>T n.6176C>T n.6221C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.77211257T>A | CA381935983 | MYO7A | c.6157T>A (p.Phe2053Ile) c.3958T>A c.6010T>A (p.Phe2004Ile) c.3583T>A (p.Phe1195Ile) c.6043T>A (p.Phe2015Ile) n.3693T>A n.25+346T>A n.1624T>A c.6040T>A (p.Phe2014Ile) c.6148T>A (p.Phe2050Ile) c.6151T>A (p.Phe2051Ile) c.6124T>A (p.Phe2042Ile) c.6061T>A (p.Phe2021Ile) c.5932T>A (p.Phe1978Ile) c.5920T>A (p.Phe1974Ile) c.5893T>A (p.Phe1965Ile) n.6477T>A n.6451T>A c.6247T>A (p.Phe2083Ile) c.6241T>A (p.Phe2081Ile) c.6238T>A (p.Phe2080Ile) c.6133T>A (p.Phe2045Ile) c.6130T>A (p.Phe2044Ile) n.6236T>A n.6177T>A n.6222T>A | |
11 | g.77211257T>C | CA381935985 | MYO7A | c.6157T>C (p.Phe2053Leu) c.3958T>C c.6010T>C (p.Phe2004Leu) c.3583T>C (p.Phe1195Leu) c.6043T>C (p.Phe2015Leu) n.3693T>C n.25+346T>C n.1624T>C c.6040T>C (p.Phe2014Leu) c.6148T>C (p.Phe2050Leu) c.6151T>C (p.Phe2051Leu) c.6124T>C (p.Phe2042Leu) c.6061T>C (p.Phe2021Leu) c.5932T>C (p.Phe1978Leu) c.5920T>C (p.Phe1974Leu) c.5893T>C (p.Phe1965Leu) n.6477T>C n.6451T>C c.6247T>C (p.Phe2083Leu) c.6241T>C (p.Phe2081Leu) c.6238T>C (p.Phe2080Leu) c.6133T>C (p.Phe2045Leu) c.6130T>C (p.Phe2044Leu) n.6236T>C n.6177T>C n.6222T>C | gnomAD v4 |
11 | g.77211257T>G | CA381935984 | MYO7A | c.6157T>G (p.Phe2053Val) c.3958T>G c.6010T>G (p.Phe2004Val) c.3583T>G (p.Phe1195Val) c.6043T>G (p.Phe2015Val) n.3693T>G n.25+346T>G n.1624T>G c.6040T>G (p.Phe2014Val) c.6148T>G (p.Phe2050Val) c.6151T>G (p.Phe2051Val) c.6124T>G (p.Phe2042Val) c.6061T>G (p.Phe2021Val) c.5932T>G (p.Phe1978Val) c.5920T>G (p.Phe1974Val) c.5893T>G (p.Phe1965Val) n.6477T>G n.6451T>G c.6247T>G (p.Phe2083Val) c.6241T>G (p.Phe2081Val) c.6238T>G (p.Phe2080Val) c.6133T>G (p.Phe2045Val) c.6130T>G (p.Phe2044Val) n.6236T>G n.6177T>G n.6222T>G | |
11 | g.77211258T>A | CA381935988 | MYO7A | c.6158T>A (p.Phe2053Tyr) c.3959T>A c.6011T>A (p.Phe2004Tyr) c.3584T>A (p.Phe1195Tyr) c.6044T>A (p.Phe2015Tyr) n.3694T>A n.25+347T>A n.1625T>A c.6041T>A (p.Phe2014Tyr) c.6149T>A (p.Phe2050Tyr) c.6152T>A (p.Phe2051Tyr) c.6125T>A (p.Phe2042Tyr) c.6062T>A (p.Phe2021Tyr) c.5933T>A (p.Phe1978Tyr) c.5921T>A (p.Phe1974Tyr) c.5894T>A (p.Phe1965Tyr) n.6478T>A n.6452T>A c.6248T>A (p.Phe2083Tyr) c.6242T>A (p.Phe2081Tyr) c.6239T>A (p.Phe2080Tyr) c.6134T>A (p.Phe2045Tyr) c.6131T>A (p.Phe2044Tyr) n.6237T>A n.6178T>A n.6223T>A | |
11 | g.77211258T>C | CA381935990 | MYO7A | c.6158T>C (p.Phe2053Ser) c.3959T>C c.6011T>C (p.Phe2004Ser) c.3584T>C (p.Phe1195Ser) c.6044T>C (p.Phe2015Ser) n.3694T>C n.25+347T>C n.1625T>C c.6041T>C (p.Phe2014Ser) c.6149T>C (p.Phe2050Ser) c.6152T>C (p.Phe2051Ser) c.6125T>C (p.Phe2042Ser) c.6062T>C (p.Phe2021Ser) c.5933T>C (p.Phe1978Ser) c.5921T>C (p.Phe1974Ser) c.5894T>C (p.Phe1965Ser) n.6478T>C n.6452T>C c.6248T>C (p.Phe2083Ser) c.6242T>C (p.Phe2081Ser) c.6239T>C (p.Phe2080Ser) c.6134T>C (p.Phe2045Ser) c.6131T>C (p.Phe2044Ser) n.6237T>C n.6178T>C n.6223T>C | |
11 | g.77211258T>G | CA381935993 | MYO7A | c.6158T>G (p.Phe2053Cys) c.3959T>G c.6011T>G (p.Phe2004Cys) c.3584T>G (p.Phe1195Cys) c.6044T>G (p.Phe2015Cys) n.3694T>G n.25+347T>G n.1625T>G c.6041T>G (p.Phe2014Cys) c.6149T>G (p.Phe2050Cys) c.6152T>G (p.Phe2051Cys) c.6125T>G (p.Phe2042Cys) c.6062T>G (p.Phe2021Cys) c.5933T>G (p.Phe1978Cys) c.5921T>G (p.Phe1974Cys) c.5894T>G (p.Phe1965Cys) n.6478T>G n.6452T>G c.6248T>G (p.Phe2083Cys) c.6242T>G (p.Phe2081Cys) c.6239T>G (p.Phe2080Cys) c.6134T>G (p.Phe2045Cys) c.6131T>G (p.Phe2044Cys) n.6237T>G n.6178T>G n.6223T>G | |
11 | g.77211259C>A | CA381935996 | MYO7A | c.6159C>A (p.Phe2053Leu) c.3960C>A c.6012C>A (p.Phe2004Leu) c.3585C>A (p.Phe1195Leu) c.6045C>A (p.Phe2015Leu) n.3695C>A n.25+348C>A n.1626C>A c.6042C>A (p.Phe2014Leu) c.6150C>A (p.Phe2050Leu) c.6153C>A (p.Phe2051Leu) c.6126C>A (p.Phe2042Leu) c.6063C>A (p.Phe2021Leu) c.5934C>A (p.Phe1978Leu) c.5922C>A (p.Phe1974Leu) c.5895C>A (p.Phe1965Leu) n.6479C>A n.6453C>A c.6249C>A (p.Phe2083Leu) c.6243C>A (p.Phe2081Leu) c.6240C>A (p.Phe2080Leu) c.6135C>A (p.Phe2045Leu) c.6132C>A (p.Phe2044Leu) n.6238C>A n.6179C>A n.6224C>A | gnomAD v4 |
11 | g.77211259C>G | CA381935998 | MYO7A | c.6159C>G (p.Phe2053Leu) c.3960C>G c.6012C>G (p.Phe2004Leu) c.3585C>G (p.Phe1195Leu) c.6045C>G (p.Phe2015Leu) n.3695C>G n.25+348C>G n.1626C>G c.6042C>G (p.Phe2014Leu) c.6150C>G (p.Phe2050Leu) c.6153C>G (p.Phe2051Leu) c.6126C>G (p.Phe2042Leu) c.6063C>G (p.Phe2021Leu) c.5934C>G (p.Phe1978Leu) c.5922C>G (p.Phe1974Leu) c.5895C>G (p.Phe1965Leu) n.6479C>G n.6453C>G c.6249C>G (p.Phe2083Leu) c.6243C>G (p.Phe2081Leu) c.6240C>G (p.Phe2080Leu) c.6135C>G (p.Phe2045Leu) c.6132C>G (p.Phe2044Leu) n.6238C>G n.6179C>G n.6224C>G | gnomAD v4 |
11 | g.77211259C>T | CA475791990 | MYO7A | c.6159C>T (p.Phe2053=) c.3960C>T c.6012C>T (p.Phe2004=) c.3585C>T (p.Phe1195=) c.6045C>T (p.Phe2015=) n.3695C>T n.25+348C>T n.1626C>T c.6042C>T (p.Phe2014=) c.6150C>T (p.Phe2050=) c.6153C>T (p.Phe2051=) c.6126C>T (p.Phe2042=) c.6063C>T (p.Phe2021=) c.5934C>T (p.Phe1978=) c.5922C>T (p.Phe1974=) c.5895C>T (p.Phe1965=) n.6479C>T n.6453C>T c.6249C>T (p.Phe2083=) c.6243C>T (p.Phe2081=) c.6240C>T (p.Phe2080=) c.6135C>T (p.Phe2045=) c.6132C>T (p.Phe2044=) n.6238C>T n.6179C>T n.6224C>T | ClinVar gnomAD v4 |
11 | g.77211262del | CA2615262711 | MYO7A | c.6162del (p.Ser2055AlafsTer?) c.3963del c.6015del (p.Ser2006AlafsTer?) c.3588del (p.Ser1197AlafsTer?) c.6048del (p.Ser2017AlafsTer?) n.3698del n.25+351del n.1629del c.6045del (p.Ser2016AlafsTer?) c.6153del (p.Ser2052AlafsTer?) c.6156del (p.Ser2053AlafsTer?) c.6129del (p.Ser2044AlafsTer?) c.6066del (p.Ser2023AlafsTer?) c.5937del (p.Ser1980AlafsTer?) c.5925del (p.Ser1976AlafsTer?) c.5898del (p.Ser1967AlafsTer?) n.6482del n.6456del c.6252del (p.Ser2085AlafsTer?) c.6246del (p.Ser2083AlafsTer?) c.6243del (p.Ser2082AlafsTer?) c.6138del (p.Ser2047AlafsTer?) c.6135del (p.Ser2046AlafsTer?) n.6241del n.6182del n.6227del | gnomAD v4 |
11 | g.77211260C>A | CA381936001 | MYO7A | c.6160C>A (p.Pro2054Thr) c.3961C>A c.6013C>A (p.Pro2005Thr) c.3586C>A (p.Pro1196Thr) c.6046C>A (p.Pro2016Thr) n.3696C>A n.25+349C>A n.1627C>A c.6043C>A (p.Pro2015Thr) c.6151C>A (p.Pro2051Thr) c.6154C>A (p.Pro2052Thr) c.6127C>A (p.Pro2043Thr) c.6064C>A (p.Pro2022Thr) c.5935C>A (p.Pro1979Thr) c.5923C>A (p.Pro1975Thr) c.5896C>A (p.Pro1966Thr) n.6480C>A n.6454C>A c.6250C>A (p.Pro2084Thr) c.6244C>A (p.Pro2082Thr) c.6241C>A (p.Pro2081Thr) c.6136C>A (p.Pro2046Thr) c.6133C>A (p.Pro2045Thr) n.6239C>A n.6180C>A n.6225C>A | |
11 | g.77211260C>G | CA381936003 | MYO7A | c.6160C>G (p.Pro2054Ala) c.3961C>G c.6013C>G (p.Pro2005Ala) c.3586C>G (p.Pro1196Ala) c.6046C>G (p.Pro2016Ala) n.3696C>G n.25+349C>G n.1627C>G c.6043C>G (p.Pro2015Ala) c.6151C>G (p.Pro2051Ala) c.6154C>G (p.Pro2052Ala) c.6127C>G (p.Pro2043Ala) c.6064C>G (p.Pro2022Ala) c.5935C>G (p.Pro1979Ala) c.5923C>G (p.Pro1975Ala) c.5896C>G (p.Pro1966Ala) n.6480C>G n.6454C>G c.6250C>G (p.Pro2084Ala) c.6244C>G (p.Pro2082Ala) c.6241C>G (p.Pro2081Ala) c.6136C>G (p.Pro2046Ala) c.6133C>G (p.Pro2045Ala) n.6239C>G n.6180C>G n.6225C>G | |
11 | g.77211260C>T | CA381936005 | MYO7A | c.6160C>T (p.Pro2054Ser) c.3961C>T c.6013C>T (p.Pro2005Ser) c.3586C>T (p.Pro1196Ser) c.6046C>T (p.Pro2016Ser) n.3696C>T n.25+349C>T n.1627C>T c.6043C>T (p.Pro2015Ser) c.6151C>T (p.Pro2051Ser) c.6154C>T (p.Pro2052Ser) c.6127C>T (p.Pro2043Ser) c.6064C>T (p.Pro2022Ser) c.5935C>T (p.Pro1979Ser) c.5923C>T (p.Pro1975Ser) c.5896C>T (p.Pro1966Ser) n.6480C>T n.6454C>T c.6250C>T (p.Pro2084Ser) c.6244C>T (p.Pro2082Ser) c.6241C>T (p.Pro2081Ser) c.6136C>T (p.Pro2046Ser) c.6133C>T (p.Pro2045Ser) n.6239C>T n.6180C>T n.6225C>T | gnomAD v4 |
11 | g.77211261C>A | CA381936007 | MYO7A | c.6161C>A (p.Pro2054His) c.3962C>A c.6014C>A (p.Pro2005His) c.3587C>A (p.Pro1196His) c.6047C>A (p.Pro2016His) n.3697C>A n.25+350C>A n.1628C>A c.6044C>A (p.Pro2015His) c.6152C>A (p.Pro2051His) c.6155C>A (p.Pro2052His) c.6128C>A (p.Pro2043His) c.6065C>A (p.Pro2022His) c.5936C>A (p.Pro1979His) c.5924C>A (p.Pro1975His) c.5897C>A (p.Pro1966His) n.6481C>A n.6455C>A c.6251C>A (p.Pro2084His) c.6245C>A (p.Pro2082His) c.6242C>A (p.Pro2081His) c.6137C>A (p.Pro2046His) c.6134C>A (p.Pro2045His) n.6240C>A n.6181C>A n.6226C>A | gnomAD v4 |
11 | g.77211261C= | CA1984129882 | MYO7A | c.6161C= (p.Pro2054=) c.3962C= c.6014C= (p.Pro2005=) c.3587C= (p.Pro1196=) c.6047C= (p.Pro2016=) n.3697C= n.25+350C= n.1628C= c.6044C= (p.Pro2015=) c.6152C= (p.Pro2051=) c.6155C= (p.Pro2052=) c.6128C= (p.Pro2043=) c.6065C= (p.Pro2022=) c.5936C= (p.Pro1979=) c.5924C= (p.Pro1975=) c.5897C= (p.Pro1966=) n.6481C= n.6455C= c.6251C= (p.Pro2084=) c.6245C= (p.Pro2082=) c.6242C= (p.Pro2081=) c.6137C= (p.Pro2046=) c.6134C= (p.Pro2045=) n.6240C= n.6181C= n.6226C= | |
11 | g.77211261C>G | CA381936010 | MYO7A | c.6161C>G (p.Pro2054Arg) c.3962C>G c.6014C>G (p.Pro2005Arg) c.3587C>G (p.Pro1196Arg) c.6047C>G (p.Pro2016Arg) n.3697C>G n.25+350C>G n.1628C>G c.6044C>G (p.Pro2015Arg) c.6152C>G (p.Pro2051Arg) c.6155C>G (p.Pro2052Arg) c.6128C>G (p.Pro2043Arg) c.6065C>G (p.Pro2022Arg) c.5936C>G (p.Pro1979Arg) c.5924C>G (p.Pro1975Arg) c.5897C>G (p.Pro1966Arg) n.6481C>G n.6455C>G c.6251C>G (p.Pro2084Arg) c.6245C>G (p.Pro2082Arg) c.6242C>G (p.Pro2081Arg) c.6137C>G (p.Pro2046Arg) c.6134C>G (p.Pro2045Arg) n.6240C>G n.6181C>G n.6226C>G | |
11 | g.77211261C>T | CA381936012 | MYO7A | c.6161C>T (p.Pro2054Leu) c.3962C>T c.6014C>T (p.Pro2005Leu) c.3587C>T (p.Pro1196Leu) c.6047C>T (p.Pro2016Leu) n.3697C>T n.25+350C>T n.1628C>T c.6044C>T (p.Pro2015Leu) c.6152C>T (p.Pro2051Leu) c.6155C>T (p.Pro2052Leu) c.6128C>T (p.Pro2043Leu) c.6065C>T (p.Pro2022Leu) c.5936C>T (p.Pro1979Leu) c.5924C>T (p.Pro1975Leu) c.5897C>T (p.Pro1966Leu) n.6481C>T n.6455C>T c.6251C>T (p.Pro2084Leu) c.6245C>T (p.Pro2082Leu) c.6242C>T (p.Pro2081Leu) c.6137C>T (p.Pro2046Leu) c.6134C>T (p.Pro2045Leu) n.6240C>T n.6181C>T n.6226C>T | dbSNP gnomAD v4 |
11 | g.77211262C>A | CA475791994 | MYO7A | c.6162C>A (p.Pro2054=) c.3963C>A c.6015C>A (p.Pro2005=) c.3588C>A (p.Pro1196=) c.6048C>A (p.Pro2016=) n.3698C>A n.25+351C>A n.1629C>A c.6045C>A (p.Pro2015=) c.6153C>A (p.Pro2051=) c.6156C>A (p.Pro2052=) c.6129C>A (p.Pro2043=) c.6066C>A (p.Pro2022=) c.5937C>A (p.Pro1979=) c.5925C>A (p.Pro1975=) c.5898C>A (p.Pro1966=) n.6482C>A n.6456C>A c.6252C>A (p.Pro2084=) c.6246C>A (p.Pro2082=) c.6243C>A (p.Pro2081=) c.6138C>A (p.Pro2046=) c.6135C>A (p.Pro2045=) n.6241C>A n.6182C>A n.6227C>A | gnomAD v4 |
11 | g.77211262C= | CA1984129883 | MYO7A | c.6162C= (p.Pro2054=) c.3963C= c.6015C= (p.Pro2005=) c.3588C= (p.Pro1196=) c.6048C= (p.Pro2016=) n.3698C= n.25+351C= n.1629C= c.6045C= (p.Pro2015=) c.6153C= (p.Pro2051=) c.6156C= (p.Pro2052=) c.6129C= (p.Pro2043=) c.6066C= (p.Pro2022=) c.5937C= (p.Pro1979=) c.5925C= (p.Pro1975=) c.5898C= (p.Pro1966=) n.6482C= n.6456C= c.6252C= (p.Pro2084=) c.6246C= (p.Pro2082=) c.6243C= (p.Pro2081=) c.6138C= (p.Pro2046=) c.6135C= (p.Pro2045=) n.6241C= n.6182C= n.6227C= | |
11 | g.77211262C>G | CA475791995 | MYO7A | c.6162C>G (p.Pro2054=) c.3963C>G c.6015C>G (p.Pro2005=) c.3588C>G (p.Pro1196=) c.6048C>G (p.Pro2016=) n.3698C>G n.25+351C>G n.1629C>G c.6045C>G (p.Pro2015=) c.6153C>G (p.Pro2051=) c.6156C>G (p.Pro2052=) c.6129C>G (p.Pro2043=) c.6066C>G (p.Pro2022=) c.5937C>G (p.Pro1979=) c.5925C>G (p.Pro1975=) c.5898C>G (p.Pro1966=) n.6482C>G n.6456C>G c.6252C>G (p.Pro2084=) c.6246C>G (p.Pro2082=) c.6243C>G (p.Pro2081=) c.6138C>G (p.Pro2046=) c.6135C>G (p.Pro2045=) n.6241C>G n.6182C>G n.6227C>G | dbSNP gnomAD v4 |
11 | g.77211262C>T | CA6198943 | MYO7A | c.6162C>T (p.Pro2054=) c.3963C>T c.6015C>T (p.Pro2005=) c.3588C>T (p.Pro1196=) c.6048C>T (p.Pro2016=) n.3698C>T n.25+351C>T n.1629C>T c.6045C>T (p.Pro2015=) c.6153C>T (p.Pro2051=) c.6156C>T (p.Pro2052=) c.6129C>T (p.Pro2043=) c.6066C>T (p.Pro2022=) c.5937C>T (p.Pro1979=) c.5925C>T (p.Pro1975=) c.5898C>T (p.Pro1966=) n.6482C>T n.6456C>T c.6252C>T (p.Pro2084=) c.6246C>T (p.Pro2082=) c.6243C>T (p.Pro2081=) c.6138C>T (p.Pro2046=) c.6135C>T (p.Pro2045=) n.6241C>T n.6182C>T n.6227C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77211263A>C | CA381936020 | MYO7A | c.6163A>C (p.Ser2055Arg) c.3964A>C c.6016A>C (p.Ser2006Arg) c.3589A>C (p.Ser1197Arg) c.6049A>C (p.Ser2017Arg) n.3699A>C n.25+352A>C n.1630A>C c.6046A>C (p.Ser2016Arg) c.6154A>C (p.Ser2052Arg) c.6157A>C (p.Ser2053Arg) c.6130A>C (p.Ser2044Arg) c.6067A>C (p.Ser2023Arg) c.5938A>C (p.Ser1980Arg) c.5926A>C (p.Ser1976Arg) c.5899A>C (p.Ser1967Arg) n.6483A>C n.6457A>C c.6253A>C (p.Ser2085Arg) c.6247A>C (p.Ser2083Arg) c.6244A>C (p.Ser2082Arg) c.6139A>C (p.Ser2047Arg) c.6136A>C (p.Ser2046Arg) n.6242A>C n.6183A>C n.6228A>C | |
11 | g.77211263A>G | CA381936018 | MYO7A | c.6163A>G (p.Ser2055Gly) c.3964A>G c.6016A>G (p.Ser2006Gly) c.3589A>G (p.Ser1197Gly) c.6049A>G (p.Ser2017Gly) n.3699A>G n.25+352A>G n.1630A>G c.6046A>G (p.Ser2016Gly) c.6154A>G (p.Ser2052Gly) c.6157A>G (p.Ser2053Gly) c.6130A>G (p.Ser2044Gly) c.6067A>G (p.Ser2023Gly) c.5938A>G (p.Ser1980Gly) c.5926A>G (p.Ser1976Gly) c.5899A>G (p.Ser1967Gly) n.6483A>G n.6457A>G c.6253A>G (p.Ser2085Gly) c.6247A>G (p.Ser2083Gly) c.6244A>G (p.Ser2082Gly) c.6139A>G (p.Ser2047Gly) c.6136A>G (p.Ser2046Gly) n.6242A>G n.6183A>G n.6228A>G | |
11 | g.77211263A>T | CA381936017 | MYO7A | c.6163A>T (p.Ser2055Cys) c.3964A>T c.6016A>T (p.Ser2006Cys) c.3589A>T (p.Ser1197Cys) c.6049A>T (p.Ser2017Cys) n.3699A>T n.25+352A>T n.1630A>T c.6046A>T (p.Ser2016Cys) c.6154A>T (p.Ser2052Cys) c.6157A>T (p.Ser2053Cys) c.6130A>T (p.Ser2044Cys) c.6067A>T (p.Ser2023Cys) c.5938A>T (p.Ser1980Cys) c.5926A>T (p.Ser1976Cys) c.5899A>T (p.Ser1967Cys) n.6483A>T n.6457A>T c.6253A>T (p.Ser2085Cys) c.6247A>T (p.Ser2083Cys) c.6244A>T (p.Ser2082Cys) c.6139A>T (p.Ser2047Cys) c.6136A>T (p.Ser2046Cys) n.6242A>T n.6183A>T n.6228A>T | |
11 | g.77211264G>A | CA381936025 | MYO7A | c.6164G>A (p.Ser2055Asn) c.3965G>A c.6017G>A (p.Ser2006Asn) c.3590G>A (p.Ser1197Asn) c.6050G>A (p.Ser2017Asn) n.3700G>A n.25+353G>A n.1631G>A c.6047G>A (p.Ser2016Asn) c.6155G>A (p.Ser2052Asn) c.6158G>A (p.Ser2053Asn) c.6131G>A (p.Ser2044Asn) c.6068G>A (p.Ser2023Asn) c.5939G>A (p.Ser1980Asn) c.5927G>A (p.Ser1976Asn) c.5900G>A (p.Ser1967Asn) n.6484G>A n.6458G>A c.6254G>A (p.Ser2085Asn) c.6248G>A (p.Ser2083Asn) c.6245G>A (p.Ser2082Asn) c.6140G>A (p.Ser2047Asn) c.6137G>A (p.Ser2046Asn) n.6243G>A n.6184G>A n.6229G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77211264G>C | CA381936022 | MYO7A | c.6164G>C (p.Ser2055Thr) c.3965G>C c.6017G>C (p.Ser2006Thr) c.3590G>C (p.Ser1197Thr) c.6050G>C (p.Ser2017Thr) n.3700G>C n.25+353G>C n.1631G>C c.6047G>C (p.Ser2016Thr) c.6155G>C (p.Ser2052Thr) c.6158G>C (p.Ser2053Thr) c.6131G>C (p.Ser2044Thr) c.6068G>C (p.Ser2023Thr) c.5939G>C (p.Ser1980Thr) c.5927G>C (p.Ser1976Thr) c.5900G>C (p.Ser1967Thr) n.6484G>C n.6458G>C c.6254G>C (p.Ser2085Thr) c.6248G>C (p.Ser2083Thr) c.6245G>C (p.Ser2082Thr) c.6140G>C (p.Ser2047Thr) c.6137G>C (p.Ser2046Thr) n.6243G>C n.6184G>C n.6229G>C | |
11 | g.77211264G= | CA1984129884 | MYO7A | c.6164G= (p.Ser2055=) c.3965G= c.6017G= (p.Ser2006=) c.3590G= (p.Ser1197=) c.6050G= (p.Ser2017=) n.3700G= n.25+353G= n.1631G= c.6047G= (p.Ser2016=) c.6155G= (p.Ser2052=) c.6158G= (p.Ser2053=) c.6131G= (p.Ser2044=) c.6068G= (p.Ser2023=) c.5939G= (p.Ser1980=) c.5927G= (p.Ser1976=) c.5900G= (p.Ser1967=) n.6484G= n.6458G= c.6254G= (p.Ser2085=) c.6248G= (p.Ser2083=) c.6245G= (p.Ser2082=) c.6140G= (p.Ser2047=) c.6137G= (p.Ser2046=) n.6243G= n.6184G= n.6229G= | |
11 | g.77211264G>T | CA381936027 | MYO7A | c.6164G>T (p.Ser2055Ile) c.3965G>T c.6017G>T (p.Ser2006Ile) c.3590G>T (p.Ser1197Ile) c.6050G>T (p.Ser2017Ile) n.3700G>T n.25+353G>T n.1631G>T c.6047G>T (p.Ser2016Ile) c.6155G>T (p.Ser2052Ile) c.6158G>T (p.Ser2053Ile) c.6131G>T (p.Ser2044Ile) c.6068G>T (p.Ser2023Ile) c.5939G>T (p.Ser1980Ile) c.5927G>T (p.Ser1976Ile) c.5900G>T (p.Ser1967Ile) n.6484G>T n.6458G>T c.6254G>T (p.Ser2085Ile) c.6248G>T (p.Ser2083Ile) c.6245G>T (p.Ser2082Ile) c.6140G>T (p.Ser2047Ile) c.6137G>T (p.Ser2046Ile) n.6243G>T n.6184G>T n.6229G>T | gnomAD v4 |
11 | g.77211265C>A | CA381936030 | MYO7A | c.6165C>A (p.Ser2055Arg) c.3966C>A c.6018C>A (p.Ser2006Arg) c.3591C>A (p.Ser1197Arg) c.6051C>A (p.Ser2017Arg) n.3701C>A n.25+354C>A n.1632C>A c.6048C>A (p.Ser2016Arg) c.6156C>A (p.Ser2052Arg) c.6159C>A (p.Ser2053Arg) c.6132C>A (p.Ser2044Arg) c.6069C>A (p.Ser2023Arg) c.5940C>A (p.Ser1980Arg) c.5928C>A (p.Ser1976Arg) c.5901C>A (p.Ser1967Arg) n.6485C>A n.6459C>A c.6255C>A (p.Ser2085Arg) c.6249C>A (p.Ser2083Arg) c.6246C>A (p.Ser2082Arg) c.6141C>A (p.Ser2047Arg) c.6138C>A (p.Ser2046Arg) n.6244C>A n.6185C>A n.6230C>A | dbSNP gnomAD v4 |
11 | g.77211265C= | CA1984129885 | MYO7A | c.6165C= (p.Ser2055=) c.3966C= c.6018C= (p.Ser2006=) c.3591C= (p.Ser1197=) c.6051C= (p.Ser2017=) n.3701C= n.25+354C= n.1632C= c.6048C= (p.Ser2016=) c.6156C= (p.Ser2052=) c.6159C= (p.Ser2053=) c.6132C= (p.Ser2044=) c.6069C= (p.Ser2023=) c.5940C= (p.Ser1980=) c.5928C= (p.Ser1976=) c.5901C= (p.Ser1967=) n.6485C= n.6459C= c.6255C= (p.Ser2085=) c.6249C= (p.Ser2083=) c.6246C= (p.Ser2082=) c.6141C= (p.Ser2047=) c.6138C= (p.Ser2046=) n.6244C= n.6185C= n.6230C= | |
11 | g.77211265C>G | CA381936033 | MYO7A | c.6165C>G (p.Ser2055Arg) c.3966C>G c.6018C>G (p.Ser2006Arg) c.3591C>G (p.Ser1197Arg) c.6051C>G (p.Ser2017Arg) n.3701C>G n.25+354C>G n.1632C>G c.6048C>G (p.Ser2016Arg) c.6156C>G (p.Ser2052Arg) c.6159C>G (p.Ser2053Arg) c.6132C>G (p.Ser2044Arg) c.6069C>G (p.Ser2023Arg) c.5940C>G (p.Ser1980Arg) c.5928C>G (p.Ser1976Arg) c.5901C>G (p.Ser1967Arg) n.6485C>G n.6459C>G c.6255C>G (p.Ser2085Arg) c.6249C>G (p.Ser2083Arg) c.6246C>G (p.Ser2082Arg) c.6141C>G (p.Ser2047Arg) c.6138C>G (p.Ser2046Arg) n.6244C>G n.6185C>G n.6230C>G | |
11 | g.77211265C>T | CA132420 | MYO7A | c.6165C>T (p.Ser2055=) c.3966C>T c.6018C>T (p.Ser2006=) c.3591C>T (p.Ser1197=) c.6051C>T (p.Ser2017=) n.3701C>T n.25+354C>T n.1632C>T c.6048C>T (p.Ser2016=) c.6156C>T (p.Ser2052=) c.6159C>T (p.Ser2053=) c.6132C>T (p.Ser2044=) c.6069C>T (p.Ser2023=) c.5940C>T (p.Ser1980=) c.5928C>T (p.Ser1976=) c.5901C>T (p.Ser1967=) n.6485C>T n.6459C>T c.6255C>T (p.Ser2085=) c.6249C>T (p.Ser2083=) c.6246C>T (p.Ser2082=) c.6141C>T (p.Ser2047=) c.6138C>T (p.Ser2046=) n.6244C>T n.6185C>T n.6230C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77211266A>C | CA381936036 | MYO7A | c.6166A>C (p.Ile2056Leu) c.3967A>C c.6019A>C (p.Ile2007Leu) c.3592A>C (p.Ile1198Leu) c.6052A>C (p.Ile2018Leu) n.3702A>C n.25+355A>C n.1633A>C c.6049A>C (p.Ile2017Leu) c.6157A>C (p.Ile2053Leu) c.6160A>C (p.Ile2054Leu) c.6133A>C (p.Ile2045Leu) c.6070A>C (p.Ile2024Leu) c.5941A>C (p.Ile1981Leu) c.5929A>C (p.Ile1977Leu) c.5902A>C (p.Ile1968Leu) n.6486A>C n.6460A>C c.6256A>C (p.Ile2086Leu) c.6250A>C (p.Ile2084Leu) c.6247A>C (p.Ile2083Leu) c.6142A>C (p.Ile2048Leu) c.6139A>C (p.Ile2047Leu) n.6245A>C n.6186A>C n.6231A>C | |
11 | g.77211266A>G | CA381936038 | MYO7A | c.6166A>G (p.Ile2056Val) c.3967A>G c.6019A>G (p.Ile2007Val) c.3592A>G (p.Ile1198Val) c.6052A>G (p.Ile2018Val) n.3702A>G n.25+355A>G n.1633A>G c.6049A>G (p.Ile2017Val) c.6157A>G (p.Ile2053Val) c.6160A>G (p.Ile2054Val) c.6133A>G (p.Ile2045Val) c.6070A>G (p.Ile2024Val) c.5941A>G (p.Ile1981Val) c.5929A>G (p.Ile1977Val) c.5902A>G (p.Ile1968Val) n.6486A>G n.6460A>G c.6256A>G (p.Ile2086Val) c.6250A>G (p.Ile2084Val) c.6247A>G (p.Ile2083Val) c.6142A>G (p.Ile2048Val) c.6139A>G (p.Ile2047Val) n.6245A>G n.6186A>G n.6231A>G | |
11 | g.77211266A>T | CA381936041 | MYO7A | c.6166A>T (p.Ile2056Phe) c.3967A>T c.6019A>T (p.Ile2007Phe) c.3592A>T (p.Ile1198Phe) c.6052A>T (p.Ile2018Phe) n.3702A>T n.25+355A>T n.1633A>T c.6049A>T (p.Ile2017Phe) c.6157A>T (p.Ile2053Phe) c.6160A>T (p.Ile2054Phe) c.6133A>T (p.Ile2045Phe) c.6070A>T (p.Ile2024Phe) c.5941A>T (p.Ile1981Phe) c.5929A>T (p.Ile1977Phe) c.5902A>T (p.Ile1968Phe) n.6486A>T n.6460A>T c.6256A>T (p.Ile2086Phe) c.6250A>T (p.Ile2084Phe) c.6247A>T (p.Ile2083Phe) c.6142A>T (p.Ile2048Phe) c.6139A>T (p.Ile2047Phe) n.6245A>T n.6186A>T n.6231A>T | |
11 | g.77211267T>A | CA381936044 | MYO7A | c.6167T>A (p.Ile2056Asn) c.3968T>A c.6020T>A (p.Ile2007Asn) c.3593T>A (p.Ile1198Asn) c.6053T>A (p.Ile2018Asn) n.3703T>A n.25+356T>A n.1634T>A c.6050T>A (p.Ile2017Asn) c.6158T>A (p.Ile2053Asn) c.6161T>A (p.Ile2054Asn) c.6134T>A (p.Ile2045Asn) c.6071T>A (p.Ile2024Asn) c.5942T>A (p.Ile1981Asn) c.5930T>A (p.Ile1977Asn) c.5903T>A (p.Ile1968Asn) n.6487T>A n.6461T>A c.6257T>A (p.Ile2086Asn) c.6251T>A (p.Ile2084Asn) c.6248T>A (p.Ile2083Asn) c.6143T>A (p.Ile2048Asn) c.6140T>A (p.Ile2047Asn) n.6246T>A n.6187T>A n.6232T>A | |
11 | g.77211267T>C | CA381936045 | MYO7A | c.6167T>C (p.Ile2056Thr) c.3968T>C c.6020T>C (p.Ile2007Thr) c.3593T>C (p.Ile1198Thr) c.6053T>C (p.Ile2018Thr) n.3703T>C n.25+356T>C n.1634T>C c.6050T>C (p.Ile2017Thr) c.6158T>C (p.Ile2053Thr) c.6161T>C (p.Ile2054Thr) c.6134T>C (p.Ile2045Thr) c.6071T>C (p.Ile2024Thr) c.5942T>C (p.Ile1981Thr) c.5930T>C (p.Ile1977Thr) c.5903T>C (p.Ile1968Thr) n.6487T>C n.6461T>C c.6257T>C (p.Ile2086Thr) c.6251T>C (p.Ile2084Thr) c.6248T>C (p.Ile2083Thr) c.6143T>C (p.Ile2048Thr) c.6140T>C (p.Ile2047Thr) n.6246T>C n.6187T>C n.6232T>C | |
11 | g.77211267T>G | CA381936047 | MYO7A | c.6167T>G (p.Ile2056Ser) c.3968T>G c.6020T>G (p.Ile2007Ser) c.3593T>G (p.Ile1198Ser) c.6053T>G (p.Ile2018Ser) n.3703T>G n.25+356T>G n.1634T>G c.6050T>G (p.Ile2017Ser) c.6158T>G (p.Ile2053Ser) c.6161T>G (p.Ile2054Ser) c.6134T>G (p.Ile2045Ser) c.6071T>G (p.Ile2024Ser) c.5942T>G (p.Ile1981Ser) c.5930T>G (p.Ile1977Ser) c.5903T>G (p.Ile1968Ser) n.6487T>G n.6461T>G c.6257T>G (p.Ile2086Ser) c.6251T>G (p.Ile2084Ser) c.6248T>G (p.Ile2083Ser) c.6143T>G (p.Ile2048Ser) c.6140T>G (p.Ile2047Ser) n.6246T>G n.6187T>G n.6232T>G | |
11 | g.77211268C>A | CA475792001 | MYO7A | c.6168C>A (p.Ile2056=) c.3969C>A c.6021C>A (p.Ile2007=) c.3594C>A (p.Ile1198=) c.6054C>A (p.Ile2018=) n.3704C>A n.25+357C>A n.1635C>A c.6051C>A (p.Ile2017=) c.6159C>A (p.Ile2053=) c.6162C>A (p.Ile2054=) c.6135C>A (p.Ile2045=) c.6072C>A (p.Ile2024=) c.5943C>A (p.Ile1981=) c.5931C>A (p.Ile1977=) c.5904C>A (p.Ile1968=) n.6488C>A n.6462C>A c.6258C>A (p.Ile2086=) c.6252C>A (p.Ile2084=) c.6249C>A (p.Ile2083=) c.6144C>A (p.Ile2048=) c.6141C>A (p.Ile2047=) n.6247C>A n.6188C>A n.6233C>A | gnomAD v4 |
11 | g.77211268C>G | CA381936049 | MYO7A | c.6168C>G (p.Ile2056Met) c.3969C>G c.6021C>G (p.Ile2007Met) c.3594C>G (p.Ile1198Met) c.6054C>G (p.Ile2018Met) n.3704C>G n.25+357C>G n.1635C>G c.6051C>G (p.Ile2017Met) c.6159C>G (p.Ile2053Met) c.6162C>G (p.Ile2054Met) c.6135C>G (p.Ile2045Met) c.6072C>G (p.Ile2024Met) c.5943C>G (p.Ile1981Met) c.5931C>G (p.Ile1977Met) c.5904C>G (p.Ile1968Met) n.6488C>G n.6462C>G c.6258C>G (p.Ile2086Met) c.6252C>G (p.Ile2084Met) c.6249C>G (p.Ile2083Met) c.6144C>G (p.Ile2048Met) c.6141C>G (p.Ile2047Met) n.6247C>G n.6188C>G n.6233C>G | |
11 | g.77211268C>T | CA475792002 | MYO7A | c.6168C>T (p.Ile2056=) c.3969C>T c.6021C>T (p.Ile2007=) c.3594C>T (p.Ile1198=) c.6054C>T (p.Ile2018=) n.3704C>T n.25+357C>T n.1635C>T c.6051C>T (p.Ile2017=) c.6159C>T (p.Ile2053=) c.6162C>T (p.Ile2054=) c.6135C>T (p.Ile2045=) c.6072C>T (p.Ile2024=) c.5943C>T (p.Ile1981=) c.5931C>T (p.Ile1977=) c.5904C>T (p.Ile1968=) n.6488C>T n.6462C>T c.6258C>T (p.Ile2086=) c.6252C>T (p.Ile2084=) c.6249C>T (p.Ile2083=) c.6144C>T (p.Ile2048=) c.6141C>T (p.Ile2047=) n.6247C>T n.6188C>T n.6233C>T | ClinVar gnomAD v4 |
11 | g.77211269C>A | CA381936051 | MYO7A | c.6169C>A (p.Pro2057Thr) c.3970C>A c.6022C>A (p.Pro2008Thr) c.3595C>A (p.Pro1199Thr) c.6055C>A (p.Pro2019Thr) n.3705C>A n.25+358C>A n.1636C>A c.6052C>A (p.Pro2018Thr) c.6160C>A (p.Pro2054Thr) c.6163C>A (p.Pro2055Thr) c.6136C>A (p.Pro2046Thr) c.6073C>A (p.Pro2025Thr) c.5944C>A (p.Pro1982Thr) c.5932C>A (p.Pro1978Thr) c.5905C>A (p.Pro1969Thr) n.6489C>A n.6463C>A c.6259C>A (p.Pro2087Thr) c.6253C>A (p.Pro2085Thr) c.6250C>A (p.Pro2084Thr) c.6145C>A (p.Pro2049Thr) c.6142C>A (p.Pro2048Thr) n.6248C>A n.6189C>A n.6234C>A | |
11 | g.77211269C= | CA1984129886 | MYO7A | c.6169C= (p.Pro2057=) c.3970C= c.6022C= (p.Pro2008=) c.3595C= (p.Pro1199=) c.6055C= (p.Pro2019=) n.3705C= n.25+358C= n.1636C= c.6052C= (p.Pro2018=) c.6160C= (p.Pro2054=) c.6163C= (p.Pro2055=) c.6136C= (p.Pro2046=) c.6073C= (p.Pro2025=) c.5944C= (p.Pro1982=) c.5932C= (p.Pro1978=) c.5905C= (p.Pro1969=) n.6489C= n.6463C= c.6259C= (p.Pro2087=) c.6253C= (p.Pro2085=) c.6250C= (p.Pro2084=) c.6145C= (p.Pro2049=) c.6142C= (p.Pro2048=) n.6248C= n.6189C= n.6234C= | |
11 | g.77211269C>G | CA6198944 | MYO7A | c.6169C>G (p.Pro2057Ala) c.3970C>G c.6022C>G (p.Pro2008Ala) c.3595C>G (p.Pro1199Ala) c.6055C>G (p.Pro2019Ala) n.3705C>G n.25+358C>G n.1636C>G c.6052C>G (p.Pro2018Ala) c.6160C>G (p.Pro2054Ala) c.6163C>G (p.Pro2055Ala) c.6136C>G (p.Pro2046Ala) c.6073C>G (p.Pro2025Ala) c.5944C>G (p.Pro1982Ala) c.5932C>G (p.Pro1978Ala) c.5905C>G (p.Pro1969Ala) n.6489C>G n.6463C>G c.6259C>G (p.Pro2087Ala) c.6253C>G (p.Pro2085Ala) c.6250C>G (p.Pro2084Ala) c.6145C>G (p.Pro2049Ala) c.6142C>G (p.Pro2048Ala) n.6248C>G n.6189C>G n.6234C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77211269C>T | CA381936055 | MYO7A | c.6169C>T (p.Pro2057Ser) c.3970C>T c.6022C>T (p.Pro2008Ser) c.3595C>T (p.Pro1199Ser) c.6055C>T (p.Pro2019Ser) n.3705C>T n.25+358C>T n.1636C>T c.6052C>T (p.Pro2018Ser) c.6160C>T (p.Pro2054Ser) c.6163C>T (p.Pro2055Ser) c.6136C>T (p.Pro2046Ser) c.6073C>T (p.Pro2025Ser) c.5944C>T (p.Pro1982Ser) c.5932C>T (p.Pro1978Ser) c.5905C>T (p.Pro1969Ser) n.6489C>T n.6463C>T c.6259C>T (p.Pro2087Ser) c.6253C>T (p.Pro2085Ser) c.6250C>T (p.Pro2084Ser) c.6145C>T (p.Pro2049Ser) c.6142C>T (p.Pro2048Ser) n.6248C>T n.6189C>T n.6234C>T | |
11 | g.77211270C>A | CA381936063 | MYO7A | c.6170C>A (p.Pro2057His) c.3971C>A c.6023C>A (p.Pro2008His) c.3596C>A (p.Pro1199His) c.6056C>A (p.Pro2019His) n.3706C>A n.25+359C>A n.1637C>A c.6053C>A (p.Pro2018His) c.6161C>A (p.Pro2054His) c.6164C>A (p.Pro2055His) c.6137C>A (p.Pro2046His) c.6074C>A (p.Pro2025His) c.5945C>A (p.Pro1982His) c.5933C>A (p.Pro1978His) c.5906C>A (p.Pro1969His) n.6490C>A n.6464C>A c.6260C>A (p.Pro2087His) c.6254C>A (p.Pro2085His) c.6251C>A (p.Pro2084His) c.6146C>A (p.Pro2049His) c.6143C>A (p.Pro2048His) n.6249C>A n.6190C>A n.6235C>A | gnomAD v4 |
11 | g.77211270C= | CA1984129887 | MYO7A | c.6170C= (p.Pro2057=) c.3971C= c.6023C= (p.Pro2008=) c.3596C= (p.Pro1199=) c.6056C= (p.Pro2019=) n.3706C= n.25+359C= n.1637C= c.6053C= (p.Pro2018=) c.6161C= (p.Pro2054=) c.6164C= (p.Pro2055=) c.6137C= (p.Pro2046=) c.6074C= (p.Pro2025=) c.5945C= (p.Pro1982=) c.5933C= (p.Pro1978=) c.5906C= (p.Pro1969=) n.6490C= n.6464C= c.6260C= (p.Pro2087=) c.6254C= (p.Pro2085=) c.6251C= (p.Pro2084=) c.6146C= (p.Pro2049=) c.6143C= (p.Pro2048=) n.6249C= n.6190C= n.6235C= | |
11 | g.77211270C>G | CA381936059 | MYO7A | c.6170C>G (p.Pro2057Arg) c.3971C>G c.6023C>G (p.Pro2008Arg) c.3596C>G (p.Pro1199Arg) c.6056C>G (p.Pro2019Arg) n.3706C>G n.25+359C>G n.1637C>G c.6053C>G (p.Pro2018Arg) c.6161C>G (p.Pro2054Arg) c.6164C>G (p.Pro2055Arg) c.6137C>G (p.Pro2046Arg) c.6074C>G (p.Pro2025Arg) c.5945C>G (p.Pro1982Arg) c.5933C>G (p.Pro1978Arg) c.5906C>G (p.Pro1969Arg) n.6490C>G n.6464C>G c.6260C>G (p.Pro2087Arg) c.6254C>G (p.Pro2085Arg) c.6251C>G (p.Pro2084Arg) c.6146C>G (p.Pro2049Arg) c.6143C>G (p.Pro2048Arg) n.6249C>G n.6190C>G n.6235C>G | |
11 | g.77211270C>T | CA6198945 | MYO7A | c.6170C>T (p.Pro2057Leu) c.3971C>T c.6023C>T (p.Pro2008Leu) c.3596C>T (p.Pro1199Leu) c.6056C>T (p.Pro2019Leu) n.3706C>T n.25+359C>T n.1637C>T c.6053C>T (p.Pro2018Leu) c.6161C>T (p.Pro2054Leu) c.6164C>T (p.Pro2055Leu) c.6137C>T (p.Pro2046Leu) c.6074C>T (p.Pro2025Leu) c.5945C>T (p.Pro1982Leu) c.5933C>T (p.Pro1978Leu) c.5906C>T (p.Pro1969Leu) n.6490C>T n.6464C>T c.6260C>T (p.Pro2087Leu) c.6254C>T (p.Pro2085Leu) c.6251C>T (p.Pro2084Leu) c.6146C>T (p.Pro2049Leu) c.6143C>T (p.Pro2048Leu) n.6249C>T n.6190C>T n.6235C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77211271C>A | CA475792003 | MYO7A | c.6171C>A (p.Pro2057=) c.3972C>A c.6024C>A (p.Pro2008=) c.3597C>A (p.Pro1199=) c.6057C>A (p.Pro2019=) n.3707C>A n.25+360C>A n.1638C>A c.6054C>A (p.Pro2018=) c.6162C>A (p.Pro2054=) c.6165C>A (p.Pro2055=) c.6138C>A (p.Pro2046=) c.6075C>A (p.Pro2025=) c.5946C>A (p.Pro1982=) c.5934C>A (p.Pro1978=) c.5907C>A (p.Pro1969=) n.6491C>A n.6465C>A c.6261C>A (p.Pro2087=) c.6255C>A (p.Pro2085=) c.6252C>A (p.Pro2084=) c.6147C>A (p.Pro2049=) c.6144C>A (p.Pro2048=) n.6250C>A n.6191C>A n.6236C>A | ClinVar dbSNP |
11 | g.77211271C= | CA1984129888 | MYO7A | c.6171C= (p.Pro2057=) c.3972C= c.6024C= (p.Pro2008=) c.3597C= (p.Pro1199=) c.6057C= (p.Pro2019=) n.3707C= n.25+360C= n.1638C= c.6054C= (p.Pro2018=) c.6162C= (p.Pro2054=) c.6165C= (p.Pro2055=) c.6138C= (p.Pro2046=) c.6075C= (p.Pro2025=) c.5946C= (p.Pro1982=) c.5934C= (p.Pro1978=) c.5907C= (p.Pro1969=) n.6491C= n.6465C= c.6261C= (p.Pro2087=) c.6255C= (p.Pro2085=) c.6252C= (p.Pro2084=) c.6147C= (p.Pro2049=) c.6144C= (p.Pro2048=) n.6250C= n.6191C= n.6236C= | |
11 | g.77211271C>G | CA475792005 | MYO7A | c.6171C>G (p.Pro2057=) c.3972C>G c.6024C>G (p.Pro2008=) c.3597C>G (p.Pro1199=) c.6057C>G (p.Pro2019=) n.3707C>G n.25+360C>G n.1638C>G c.6054C>G (p.Pro2018=) c.6162C>G (p.Pro2054=) c.6165C>G (p.Pro2055=) c.6138C>G (p.Pro2046=) c.6075C>G (p.Pro2025=) c.5946C>G (p.Pro1982=) c.5934C>G (p.Pro1978=) c.5907C>G (p.Pro1969=) n.6491C>G n.6465C>G c.6261C>G (p.Pro2087=) c.6255C>G (p.Pro2085=) c.6252C>G (p.Pro2084=) c.6147C>G (p.Pro2049=) c.6144C>G (p.Pro2048=) n.6250C>G n.6191C>G n.6236C>G | |
11 | g.77211271C>T | CA6198946 | MYO7A | c.6171C>T (p.Pro2057=) c.3972C>T c.6024C>T (p.Pro2008=) c.3597C>T (p.Pro1199=) c.6057C>T (p.Pro2019=) n.3707C>T n.25+360C>T n.1638C>T c.6054C>T (p.Pro2018=) c.6162C>T (p.Pro2054=) c.6165C>T (p.Pro2055=) c.6138C>T (p.Pro2046=) c.6075C>T (p.Pro2025=) c.5946C>T (p.Pro1982=) c.5934C>T (p.Pro1978=) c.5907C>T (p.Pro1969=) n.6491C>T n.6465C>T c.6261C>T (p.Pro2087=) c.6255C>T (p.Pro2085=) c.6252C>T (p.Pro2084=) c.6147C>T (p.Pro2049=) c.6144C>T (p.Pro2048=) n.6250C>T n.6191C>T n.6236C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77211272A>C | CA381936067 | MYO7A | c.6172A>C (p.Lys2058Gln) c.3973A>C c.6025A>C (p.Lys2009Gln) c.3598A>C (p.Lys1200Gln) c.6058A>C (p.Lys2020Gln) n.3708A>C n.25+361A>C n.1639A>C c.6055A>C (p.Lys2019Gln) c.6163A>C (p.Lys2055Gln) c.6166A>C (p.Lys2056Gln) c.6139A>C (p.Lys2047Gln) c.6076A>C (p.Lys2026Gln) c.5947A>C (p.Lys1983Gln) c.5935A>C (p.Lys1979Gln) c.5908A>C (p.Lys1970Gln) n.6492A>C n.6466A>C c.6262A>C (p.Lys2088Gln) c.6256A>C (p.Lys2086Gln) c.6253A>C (p.Lys2085Gln) c.6148A>C (p.Lys2050Gln) c.6145A>C (p.Lys2049Gln) n.6251A>C n.6192A>C n.6237A>C | |
11 | g.77211272A>G | CA381936069 | MYO7A | c.6172A>G (p.Lys2058Glu) c.3973A>G c.6025A>G (p.Lys2009Glu) c.3598A>G (p.Lys1200Glu) c.6058A>G (p.Lys2020Glu) n.3708A>G n.25+361A>G n.1639A>G c.6055A>G (p.Lys2019Glu) c.6163A>G (p.Lys2055Glu) c.6166A>G (p.Lys2056Glu) c.6139A>G (p.Lys2047Glu) c.6076A>G (p.Lys2026Glu) c.5947A>G (p.Lys1983Glu) c.5935A>G (p.Lys1979Glu) c.5908A>G (p.Lys1970Glu) n.6492A>G n.6466A>G c.6262A>G (p.Lys2088Glu) c.6256A>G (p.Lys2086Glu) c.6253A>G (p.Lys2085Glu) c.6148A>G (p.Lys2050Glu) c.6145A>G (p.Lys2049Glu) n.6251A>G n.6192A>G n.6237A>G | |
11 | g.77211272A>T | CA381936071 | MYO7A | c.6172A>T (p.Lys2058Ter) c.3973A>T c.6025A>T (p.Lys2009Ter) c.3598A>T (p.Lys1200Ter) c.6058A>T (p.Lys2020Ter) n.3708A>T n.25+361A>T n.1639A>T c.6055A>T (p.Lys2019Ter) c.6163A>T (p.Lys2055Ter) c.6166A>T (p.Lys2056Ter) c.6139A>T (p.Lys2047Ter) c.6076A>T (p.Lys2026Ter) c.5947A>T (p.Lys1983Ter) c.5935A>T (p.Lys1979Ter) c.5908A>T (p.Lys1970Ter) n.6492A>T n.6466A>T c.6262A>T (p.Lys2088Ter) c.6256A>T (p.Lys2086Ter) c.6253A>T (p.Lys2085Ter) c.6148A>T (p.Lys2050Ter) c.6145A>T (p.Lys2049Ter) n.6251A>T n.6192A>T n.6237A>T | |
11 | g.77211273A= | CA1984129889 | MYO7A | c.6173A= (p.Lys2058=) c.3974A= c.6026A= (p.Lys2009=) c.3599A= (p.Lys1200=) c.6059A= (p.Lys2020=) n.3709A= n.25+362A= n.1640A= c.6056A= (p.Lys2019=) c.6164A= (p.Lys2055=) c.6167A= (p.Lys2056=) c.6140A= (p.Lys2047=) c.6077A= (p.Lys2026=) c.5948A= (p.Lys1983=) c.5936A= (p.Lys1979=) c.5909A= (p.Lys1970=) n.6493A= n.6467A= c.6263A= (p.Lys2088=) c.6257A= (p.Lys2086=) c.6254A= (p.Lys2085=) c.6149A= (p.Lys2050=) c.6146A= (p.Lys2049=) n.6252A= n.6193A= n.6238A= | |
11 | g.77211273A>C | CA381936074 | MYO7A | c.6173A>C (p.Lys2058Thr) c.3974A>C c.6026A>C (p.Lys2009Thr) c.3599A>C (p.Lys1200Thr) c.6059A>C (p.Lys2020Thr) n.3709A>C n.25+362A>C n.1640A>C c.6056A>C (p.Lys2019Thr) c.6164A>C (p.Lys2055Thr) c.6167A>C (p.Lys2056Thr) c.6140A>C (p.Lys2047Thr) c.6077A>C (p.Lys2026Thr) c.5948A>C (p.Lys1983Thr) c.5936A>C (p.Lys1979Thr) c.5909A>C (p.Lys1970Thr) n.6493A>C n.6467A>C c.6263A>C (p.Lys2088Thr) c.6257A>C (p.Lys2086Thr) c.6254A>C (p.Lys2085Thr) c.6149A>C (p.Lys2050Thr) c.6146A>C (p.Lys2049Thr) n.6252A>C n.6193A>C n.6238A>C | |
11 | g.77211273A>G | CA132422 | MYO7A | c.6173A>G (p.Lys2058Arg) c.3974A>G c.6026A>G (p.Lys2009Arg) c.3599A>G (p.Lys1200Arg) c.6059A>G (p.Lys2020Arg) n.3709A>G n.25+362A>G n.1640A>G c.6056A>G (p.Lys2019Arg) c.6164A>G (p.Lys2055Arg) c.6167A>G (p.Lys2056Arg) c.6140A>G (p.Lys2047Arg) c.6077A>G (p.Lys2026Arg) c.5948A>G (p.Lys1983Arg) c.5936A>G (p.Lys1979Arg) c.5909A>G (p.Lys1970Arg) n.6493A>G n.6467A>G c.6263A>G (p.Lys2088Arg) c.6257A>G (p.Lys2086Arg) c.6254A>G (p.Lys2085Arg) c.6149A>G (p.Lys2050Arg) c.6146A>G (p.Lys2049Arg) n.6252A>G n.6193A>G n.6238A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77211273A>T | CA381936077 | MYO7A | c.6173A>T (p.Lys2058Met) c.3974A>T c.6026A>T (p.Lys2009Met) c.3599A>T (p.Lys1200Met) c.6059A>T (p.Lys2020Met) n.3709A>T n.25+362A>T n.1640A>T c.6056A>T (p.Lys2019Met) c.6164A>T (p.Lys2055Met) c.6167A>T (p.Lys2056Met) c.6140A>T (p.Lys2047Met) c.6077A>T (p.Lys2026Met) c.5948A>T (p.Lys1983Met) c.5936A>T (p.Lys1979Met) c.5909A>T (p.Lys1970Met) n.6493A>T n.6467A>T c.6263A>T (p.Lys2088Met) c.6257A>T (p.Lys2086Met) c.6254A>T (p.Lys2085Met) c.6149A>T (p.Lys2050Met) c.6146A>T (p.Lys2049Met) n.6252A>T n.6193A>T n.6238A>T | |
11 | g.77211274G>A | CA475792007 | MYO7A | c.6174G>A (p.Lys2058=) c.3975G>A c.6027G>A (p.Lys2009=) c.3600G>A (p.Lys1200=) c.6060G>A (p.Lys2020=) n.3710G>A n.25+363G>A n.1641G>A c.6057G>A (p.Lys2019=) c.6165G>A (p.Lys2055=) c.6168G>A (p.Lys2056=) c.6141G>A (p.Lys2047=) c.6078G>A (p.Lys2026=) c.5949G>A (p.Lys1983=) c.5937G>A (p.Lys1979=) c.5910G>A (p.Lys1970=) n.6494G>A n.6468G>A c.6264G>A (p.Lys2088=) c.6258G>A (p.Lys2086=) c.6255G>A (p.Lys2085=) c.6150G>A (p.Lys2050=) c.6147G>A (p.Lys2049=) n.6253G>A n.6194G>A n.6239G>A | ClinVar dbSNP |
11 | g.77211274G>C | CA381936080 | MYO7A | c.6174G>C (p.Lys2058Asn) c.3975G>C c.6027G>C (p.Lys2009Asn) c.3600G>C (p.Lys1200Asn) c.6060G>C (p.Lys2020Asn) n.3710G>C n.25+363G>C n.1641G>C c.6057G>C (p.Lys2019Asn) c.6165G>C (p.Lys2055Asn) c.6168G>C (p.Lys2056Asn) c.6141G>C (p.Lys2047Asn) c.6078G>C (p.Lys2026Asn) c.5949G>C (p.Lys1983Asn) c.5937G>C (p.Lys1979Asn) c.5910G>C (p.Lys1970Asn) n.6494G>C n.6468G>C c.6264G>C (p.Lys2088Asn) c.6258G>C (p.Lys2086Asn) c.6255G>C (p.Lys2085Asn) c.6150G>C (p.Lys2050Asn) c.6147G>C (p.Lys2049Asn) n.6253G>C n.6194G>C n.6239G>C | |
11 | g.77211274G>T | CA381936081 | MYO7A | c.6174G>T (p.Lys2058Asn) c.3975G>T c.6027G>T (p.Lys2009Asn) c.3600G>T (p.Lys1200Asn) c.6060G>T (p.Lys2020Asn) n.3710G>T n.25+363G>T n.1641G>T c.6057G>T (p.Lys2019Asn) c.6165G>T (p.Lys2055Asn) c.6168G>T (p.Lys2056Asn) c.6141G>T (p.Lys2047Asn) c.6078G>T (p.Lys2026Asn) c.5949G>T (p.Lys1983Asn) c.5937G>T (p.Lys1979Asn) c.5910G>T (p.Lys1970Asn) n.6494G>T n.6468G>T c.6264G>T (p.Lys2088Asn) c.6258G>T (p.Lys2086Asn) c.6255G>T (p.Lys2085Asn) c.6150G>T (p.Lys2050Asn) c.6147G>T (p.Lys2049Asn) n.6253G>T n.6194G>T n.6239G>T | gnomAD v4 |
11 | g.77211275C>A | CA381936083 | MYO7A | c.6175C>A (p.Leu2059Met) c.3976C>A c.6028C>A (p.Leu2010Met) c.3601C>A (p.Leu1201Met) c.6061C>A (p.Leu2021Met) n.3711C>A n.25+364C>A n.1642C>A c.6058C>A (p.Leu2020Met) c.6166C>A (p.Leu2056Met) c.6169C>A (p.Leu2057Met) c.6142C>A (p.Leu2048Met) c.6079C>A (p.Leu2027Met) c.5950C>A (p.Leu1984Met) c.5938C>A (p.Leu1980Met) c.5911C>A (p.Leu1971Met) n.6495C>A n.6469C>A c.6265C>A (p.Leu2089Met) c.6259C>A (p.Leu2087Met) c.6256C>A (p.Leu2086Met) c.6151C>A (p.Leu2051Met) c.6148C>A (p.Leu2050Met) n.6254C>A n.6195C>A n.6240C>A | gnomAD v4 |
11 | g.77211275C= | CA1984129890 | MYO7A | c.6175C= (p.Leu2059=) c.3976C= c.6028C= (p.Leu2010=) c.3601C= (p.Leu1201=) c.6061C= (p.Leu2021=) n.3711C= n.25+364C= n.1642C= c.6058C= (p.Leu2020=) c.6166C= (p.Leu2056=) c.6169C= (p.Leu2057=) c.6142C= (p.Leu2048=) c.6079C= (p.Leu2027=) c.5950C= (p.Leu1984=) c.5938C= (p.Leu1980=) c.5911C= (p.Leu1971=) n.6495C= n.6469C= c.6265C= (p.Leu2089=) c.6259C= (p.Leu2087=) c.6256C= (p.Leu2086=) c.6151C= (p.Leu2051=) c.6148C= (p.Leu2050=) n.6254C= n.6195C= n.6240C= | |
11 | g.77211275C>G | CA381936085 | MYO7A | c.6175C>G (p.Leu2059Val) c.3976C>G c.6028C>G (p.Leu2010Val) c.3601C>G (p.Leu1201Val) c.6061C>G (p.Leu2021Val) n.3711C>G n.25+364C>G n.1642C>G c.6058C>G (p.Leu2020Val) c.6166C>G (p.Leu2056Val) c.6169C>G (p.Leu2057Val) c.6142C>G (p.Leu2048Val) c.6079C>G (p.Leu2027Val) c.5950C>G (p.Leu1984Val) c.5938C>G (p.Leu1980Val) c.5911C>G (p.Leu1971Val) n.6495C>G n.6469C>G c.6265C>G (p.Leu2089Val) c.6259C>G (p.Leu2087Val) c.6256C>G (p.Leu2086Val) c.6151C>G (p.Leu2051Val) c.6148C>G (p.Leu2050Val) n.6254C>G n.6195C>G n.6240C>G | dbSNP |
11 | g.77211275C>T | CA475792008 | MYO7A | c.6175C>T (p.Leu2059=) c.3976C>T c.6028C>T (p.Leu2010=) c.3601C>T (p.Leu1201=) c.6061C>T (p.Leu2021=) n.3711C>T n.25+364C>T n.1642C>T c.6058C>T (p.Leu2020=) c.6166C>T (p.Leu2056=) c.6169C>T (p.Leu2057=) c.6142C>T (p.Leu2048=) c.6079C>T (p.Leu2027=) c.5950C>T (p.Leu1984=) c.5938C>T (p.Leu1980=) c.5911C>T (p.Leu1971=) n.6495C>T n.6469C>T c.6265C>T (p.Leu2089=) c.6259C>T (p.Leu2087=) c.6256C>T (p.Leu2086=) c.6151C>T (p.Leu2051=) c.6148C>T (p.Leu2050=) n.6254C>T n.6195C>T n.6240C>T | dbSNP |
11 | g.77211276T>A | CA381936093 | MYO7A | c.6176T>A (p.Leu2059Gln) c.3977T>A c.6029T>A (p.Leu2010Gln) c.3602T>A (p.Leu1201Gln) c.6062T>A (p.Leu2021Gln) n.3712T>A n.25+365T>A n.1643T>A c.6059T>A (p.Leu2020Gln) c.6167T>A (p.Leu2056Gln) c.6170T>A (p.Leu2057Gln) c.6143T>A (p.Leu2048Gln) c.6080T>A (p.Leu2027Gln) c.5951T>A (p.Leu1984Gln) c.5939T>A (p.Leu1980Gln) c.5912T>A (p.Leu1971Gln) n.6496T>A n.6470T>A c.6266T>A (p.Leu2089Gln) c.6260T>A (p.Leu2087Gln) c.6257T>A (p.Leu2086Gln) c.6152T>A (p.Leu2051Gln) c.6149T>A (p.Leu2050Gln) n.6255T>A n.6196T>A n.6241T>A | |
11 | g.77211276T>C | CA381936091 | MYO7A | c.6176T>C (p.Leu2059Pro) c.3977T>C c.6029T>C (p.Leu2010Pro) c.3602T>C (p.Leu1201Pro) c.6062T>C (p.Leu2021Pro) n.3712T>C n.25+365T>C n.1643T>C c.6059T>C (p.Leu2020Pro) c.6167T>C (p.Leu2056Pro) c.6170T>C (p.Leu2057Pro) c.6143T>C (p.Leu2048Pro) c.6080T>C (p.Leu2027Pro) c.5951T>C (p.Leu1984Pro) c.5939T>C (p.Leu1980Pro) c.5912T>C (p.Leu1971Pro) n.6496T>C n.6470T>C c.6266T>C (p.Leu2089Pro) c.6260T>C (p.Leu2087Pro) c.6257T>C (p.Leu2086Pro) c.6152T>C (p.Leu2051Pro) c.6149T>C (p.Leu2050Pro) n.6255T>C n.6196T>C n.6241T>C | gnomAD v4 |
11 | g.77211276T>G | CA381936088 | MYO7A | c.6176T>G (p.Leu2059Arg) c.3977T>G c.6029T>G (p.Leu2010Arg) c.3602T>G (p.Leu1201Arg) c.6062T>G (p.Leu2021Arg) n.3712T>G n.25+365T>G n.1643T>G c.6059T>G (p.Leu2020Arg) c.6167T>G (p.Leu2056Arg) c.6170T>G (p.Leu2057Arg) c.6143T>G (p.Leu2048Arg) c.6080T>G (p.Leu2027Arg) c.5951T>G (p.Leu1984Arg) c.5939T>G (p.Leu1980Arg) c.5912T>G (p.Leu1971Arg) n.6496T>G n.6470T>G c.6266T>G (p.Leu2089Arg) c.6260T>G (p.Leu2087Arg) c.6257T>G (p.Leu2086Arg) c.6152T>G (p.Leu2051Arg) c.6149T>G (p.Leu2050Arg) n.6255T>G n.6196T>G n.6241T>G | |
11 | g.77211277G>A | CA475792011 | MYO7A | c.6177G>A (p.Leu2059=) c.3978G>A c.6030G>A (p.Leu2010=) c.3603G>A (p.Leu1201=) c.6063G>A (p.Leu2021=) n.3713G>A n.25+366G>A n.1644G>A c.6060G>A (p.Leu2020=) c.6168G>A (p.Leu2056=) c.6171G>A (p.Leu2057=) c.6144G>A (p.Leu2048=) c.6081G>A (p.Leu2027=) c.5952G>A (p.Leu1984=) c.5940G>A (p.Leu1980=) c.5913G>A (p.Leu1971=) n.6497G>A n.6471G>A c.6267G>A (p.Leu2089=) c.6261G>A (p.Leu2087=) c.6258G>A (p.Leu2086=) c.6153G>A (p.Leu2051=) c.6150G>A (p.Leu2050=) n.6256G>A n.6197G>A n.6242G>A | gnomAD v4 |
11 | g.77211277G>C | CA475792013 | MYO7A | c.6177G>C (p.Leu2059=) c.3978G>C c.6030G>C (p.Leu2010=) c.3603G>C (p.Leu1201=) c.6063G>C (p.Leu2021=) n.3713G>C n.25+366G>C n.1644G>C c.6060G>C (p.Leu2020=) c.6168G>C (p.Leu2056=) c.6171G>C (p.Leu2057=) c.6144G>C (p.Leu2048=) c.6081G>C (p.Leu2027=) c.5952G>C (p.Leu1984=) c.5940G>C (p.Leu1980=) c.5913G>C (p.Leu1971=) n.6497G>C n.6471G>C c.6267G>C (p.Leu2089=) c.6261G>C (p.Leu2087=) c.6258G>C (p.Leu2086=) c.6153G>C (p.Leu2051=) c.6150G>C (p.Leu2050=) n.6256G>C n.6197G>C n.6242G>C | gnomAD v4 |
11 | g.77211277G>T | CA475792014 | MYO7A | c.6177G>T (p.Leu2059=) c.3978G>T c.6030G>T (p.Leu2010=) c.3603G>T (p.Leu1201=) c.6063G>T (p.Leu2021=) n.3713G>T n.25+366G>T n.1644G>T c.6060G>T (p.Leu2020=) c.6168G>T (p.Leu2056=) c.6171G>T (p.Leu2057=) c.6144G>T (p.Leu2048=) c.6081G>T (p.Leu2027=) c.5952G>T (p.Leu1984=) c.5940G>T (p.Leu1980=) c.5913G>T (p.Leu1971=) n.6497G>T n.6471G>T c.6267G>T (p.Leu2089=) c.6261G>T (p.Leu2087=) c.6258G>T (p.Leu2086=) c.6153G>T (p.Leu2051=) c.6150G>T (p.Leu2050=) n.6256G>T n.6197G>T n.6242G>T | gnomAD v4 |
11 | g.77211278C>A | CA381936097 | MYO7A | c.6178C>A (p.Leu2060Met) c.3979C>A c.6031C>A (p.Leu2011Met) c.3604C>A (p.Leu1202Met) c.6064C>A (p.Leu2022Met) n.3714C>A n.25+367C>A n.1645C>A c.6061C>A (p.Leu2021Met) c.6169C>A (p.Leu2057Met) c.6172C>A (p.Leu2058Met) c.6145C>A (p.Leu2049Met) c.6082C>A (p.Leu2028Met) c.5953C>A (p.Leu1985Met) c.5941C>A (p.Leu1981Met) c.5914C>A (p.Leu1972Met) n.6498C>A n.6472C>A c.6268C>A (p.Leu2090Met) c.6262C>A (p.Leu2088Met) c.6259C>A (p.Leu2087Met) c.6154C>A (p.Leu2052Met) c.6151C>A (p.Leu2051Met) n.6257C>A n.6198C>A n.6243C>A | |
11 | g.77211278C>G | CA381936099 | MYO7A | c.6178C>G (p.Leu2060Val) c.3979C>G c.6031C>G (p.Leu2011Val) c.3604C>G (p.Leu1202Val) c.6064C>G (p.Leu2022Val) n.3714C>G n.25+367C>G n.1645C>G c.6061C>G (p.Leu2021Val) c.6169C>G (p.Leu2057Val) c.6172C>G (p.Leu2058Val) c.6145C>G (p.Leu2049Val) c.6082C>G (p.Leu2028Val) c.5953C>G (p.Leu1985Val) c.5941C>G (p.Leu1981Val) c.5914C>G (p.Leu1972Val) n.6498C>G n.6472C>G c.6268C>G (p.Leu2090Val) c.6262C>G (p.Leu2088Val) c.6259C>G (p.Leu2087Val) c.6154C>G (p.Leu2052Val) c.6151C>G (p.Leu2051Val) n.6257C>G n.6198C>G n.6243C>G | |
11 | g.77211278C>T | CA475792015 | MYO7A | c.6178C>T (p.Leu2060=) c.3979C>T c.6031C>T (p.Leu2011=) c.3604C>T (p.Leu1202=) c.6064C>T (p.Leu2022=) n.3714C>T n.25+367C>T n.1645C>T c.6061C>T (p.Leu2021=) c.6169C>T (p.Leu2057=) c.6172C>T (p.Leu2058=) c.6145C>T (p.Leu2049=) c.6082C>T (p.Leu2028=) c.5953C>T (p.Leu1985=) c.5941C>T (p.Leu1981=) c.5914C>T (p.Leu1972=) n.6498C>T n.6472C>T c.6268C>T (p.Leu2090=) c.6262C>T (p.Leu2088=) c.6259C>T (p.Leu2087=) c.6154C>T (p.Leu2052=) c.6151C>T (p.Leu2051=) n.6257C>T n.6198C>T n.6243C>T | gnomAD v4 |
11 | g.77211279T>A | CA381936101 | MYO7A | c.6179T>A (p.Leu2060Gln) c.3980T>A c.6032T>A (p.Leu2011Gln) c.3605T>A (p.Leu1202Gln) c.6065T>A (p.Leu2022Gln) n.3715T>A n.25+368T>A n.1646T>A c.6062T>A (p.Leu2021Gln) c.6170T>A (p.Leu2057Gln) c.6173T>A (p.Leu2058Gln) c.6146T>A (p.Leu2049Gln) c.6083T>A (p.Leu2028Gln) c.5954T>A (p.Leu1985Gln) c.5942T>A (p.Leu1981Gln) c.5915T>A (p.Leu1972Gln) n.6499T>A n.6473T>A c.6269T>A (p.Leu2090Gln) c.6263T>A (p.Leu2088Gln) c.6260T>A (p.Leu2087Gln) c.6155T>A (p.Leu2052Gln) c.6152T>A (p.Leu2051Gln) n.6258T>A n.6199T>A n.6244T>A | |
11 | g.77211279T>C | CA381936103 | MYO7A | c.6179T>C (p.Leu2060Pro) c.3980T>C c.6032T>C (p.Leu2011Pro) c.3605T>C (p.Leu1202Pro) c.6065T>C (p.Leu2022Pro) n.3715T>C n.25+368T>C n.1646T>C c.6062T>C (p.Leu2021Pro) c.6170T>C (p.Leu2057Pro) c.6173T>C (p.Leu2058Pro) c.6146T>C (p.Leu2049Pro) c.6083T>C (p.Leu2028Pro) c.5954T>C (p.Leu1985Pro) c.5942T>C (p.Leu1981Pro) c.5915T>C (p.Leu1972Pro) n.6499T>C n.6473T>C c.6269T>C (p.Leu2090Pro) c.6263T>C (p.Leu2088Pro) c.6260T>C (p.Leu2087Pro) c.6155T>C (p.Leu2052Pro) c.6152T>C (p.Leu2051Pro) n.6258T>C n.6199T>C n.6244T>C | |
11 | g.77211279T>G | CA381936105 | MYO7A | c.6179T>G (p.Leu2060Arg) c.3980T>G c.6032T>G (p.Leu2011Arg) c.3605T>G (p.Leu1202Arg) c.6065T>G (p.Leu2022Arg) n.3715T>G n.25+368T>G n.1646T>G c.6062T>G (p.Leu2021Arg) c.6170T>G (p.Leu2057Arg) c.6173T>G (p.Leu2058Arg) c.6146T>G (p.Leu2049Arg) c.6083T>G (p.Leu2028Arg) c.5954T>G (p.Leu1985Arg) c.5942T>G (p.Leu1981Arg) c.5915T>G (p.Leu1972Arg) n.6499T>G n.6473T>G c.6269T>G (p.Leu2090Arg) c.6263T>G (p.Leu2088Arg) c.6260T>G (p.Leu2087Arg) c.6155T>G (p.Leu2052Arg) c.6152T>G (p.Leu2051Arg) n.6258T>G n.6199T>G n.6244T>G | |
11 | g.77211280G>A | CA475792017 | MYO7A | c.6180G>A (p.Leu2060=) c.3981G>A c.6033G>A (p.Leu2011=) c.3606G>A (p.Leu1202=) c.6066G>A (p.Leu2022=) n.3716G>A n.25+369G>A n.1647G>A c.6063G>A (p.Leu2021=) c.6171G>A (p.Leu2057=) c.6174G>A (p.Leu2058=) c.6147G>A (p.Leu2049=) c.6084G>A (p.Leu2028=) c.5955G>A (p.Leu1985=) c.5943G>A (p.Leu1981=) c.5916G>A (p.Leu1972=) n.6500G>A n.6474G>A c.6270G>A (p.Leu2090=) c.6264G>A (p.Leu2088=) c.6261G>A (p.Leu2087=) c.6156G>A (p.Leu2052=) c.6153G>A (p.Leu2051=) n.6259G>A n.6200G>A n.6245G>A | gnomAD v4 |
11 | g.77211280G>C | CA475792018 | MYO7A | c.6180G>C (p.Leu2060=) c.3981G>C c.6033G>C (p.Leu2011=) c.3606G>C (p.Leu1202=) c.6066G>C (p.Leu2022=) n.3716G>C n.25+369G>C n.1647G>C c.6063G>C (p.Leu2021=) c.6171G>C (p.Leu2057=) c.6174G>C (p.Leu2058=) c.6147G>C (p.Leu2049=) c.6084G>C (p.Leu2028=) c.5955G>C (p.Leu1985=) c.5943G>C (p.Leu1981=) c.5916G>C (p.Leu1972=) n.6500G>C n.6474G>C c.6270G>C (p.Leu2090=) c.6264G>C (p.Leu2088=) c.6261G>C (p.Leu2087=) c.6156G>C (p.Leu2052=) c.6153G>C (p.Leu2051=) n.6259G>C n.6200G>C n.6245G>C | |
11 | g.77211280G= | CA1984129891 | MYO7A | c.6180G= (p.Leu2060=) c.3981G= c.6033G= (p.Leu2011=) c.3606G= (p.Leu1202=) c.6066G= (p.Leu2022=) n.3716G= n.25+369G= n.1647G= c.6063G= (p.Leu2021=) c.6171G= (p.Leu2057=) c.6174G= (p.Leu2058=) c.6147G= (p.Leu2049=) c.6084G= (p.Leu2028=) c.5955G= (p.Leu1985=) c.5943G= (p.Leu1981=) c.5916G= (p.Leu1972=) n.6500G= n.6474G= c.6270G= (p.Leu2090=) c.6264G= (p.Leu2088=) c.6261G= (p.Leu2087=) c.6156G= (p.Leu2052=) c.6153G= (p.Leu2051=) n.6259G= n.6200G= n.6245G= | |
11 | g.77211280G>T | CA475792020 | MYO7A | c.6180G>T (p.Leu2060=) c.3981G>T c.6033G>T (p.Leu2011=) c.3606G>T (p.Leu1202=) c.6066G>T (p.Leu2022=) n.3716G>T n.25+369G>T n.1647G>T c.6063G>T (p.Leu2021=) c.6171G>T (p.Leu2057=) c.6174G>T (p.Leu2058=) c.6147G>T (p.Leu2049=) c.6084G>T (p.Leu2028=) c.5955G>T (p.Leu1985=) c.5943G>T (p.Leu1981=) c.5916G>T (p.Leu1972=) n.6500G>T n.6474G>T c.6270G>T (p.Leu2090=) c.6264G>T (p.Leu2088=) c.6261G>T (p.Leu2087=) c.6156G>T (p.Leu2052=) c.6153G>T (p.Leu2051=) n.6259G>T n.6200G>T n.6245G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.77211281C>A | CA475792021 | MYO7A | c.6181C>A (p.Arg2061=) c.3982C>A c.6034C>A (p.Arg2012=) c.3607C>A (p.Arg1203=) c.6067C>A (p.Arg2023=) n.3717C>A n.25+370C>A n.1648C>A c.6064C>A (p.Arg2022=) c.6172C>A (p.Arg2058=) c.6175C>A (p.Arg2059=) c.6148C>A (p.Arg2050=) c.6085C>A (p.Arg2029=) c.5956C>A (p.Arg1986=) c.5944C>A (p.Arg1982=) c.5917C>A (p.Arg1973=) n.6501C>A n.6475C>A c.6271C>A (p.Arg2091=) c.6265C>A (p.Arg2089=) c.6262C>A (p.Arg2088=) c.6157C>A (p.Arg2053=) c.6154C>A (p.Arg2052=) n.6260C>A n.6201C>A n.6246C>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77211281C= | CA1984129892 | MYO7A | c.6181C= (p.Arg2061=) c.3982C= c.6034C= (p.Arg2012=) c.3607C= (p.Arg1203=) c.6067C= (p.Arg2023=) n.3717C= n.25+370C= n.1648C= c.6064C= (p.Arg2022=) c.6172C= (p.Arg2058=) c.6175C= (p.Arg2059=) c.6148C= (p.Arg2050=) c.6085C= (p.Arg2029=) c.5956C= (p.Arg1986=) c.5944C= (p.Arg1982=) c.5917C= (p.Arg1973=) n.6501C= n.6475C= c.6271C= (p.Arg2091=) c.6265C= (p.Arg2089=) c.6262C= (p.Arg2088=) c.6157C= (p.Arg2053=) c.6154C= (p.Arg2052=) n.6260C= n.6201C= n.6246C= | |
11 | g.77211281C>G | CA381936107 | MYO7A | c.6181C>G (p.Arg2061Gly) c.3982C>G c.6034C>G (p.Arg2012Gly) c.3607C>G (p.Arg1203Gly) c.6067C>G (p.Arg2023Gly) n.3717C>G n.25+370C>G n.1648C>G c.6064C>G (p.Arg2022Gly) c.6172C>G (p.Arg2058Gly) c.6175C>G (p.Arg2059Gly) c.6148C>G (p.Arg2050Gly) c.6085C>G (p.Arg2029Gly) c.5956C>G (p.Arg1986Gly) c.5944C>G (p.Arg1982Gly) c.5917C>G (p.Arg1973Gly) n.6501C>G n.6475C>G c.6271C>G (p.Arg2091Gly) c.6265C>G (p.Arg2089Gly) c.6262C>G (p.Arg2088Gly) c.6157C>G (p.Arg2053Gly) c.6154C>G (p.Arg2052Gly) n.6260C>G n.6201C>G n.6246C>G | |
11 | g.77211281C>T | CA6198947 | MYO7A | c.6181C>T (p.Arg2061Trp) c.3982C>T c.6034C>T (p.Arg2012Trp) c.3607C>T (p.Arg1203Trp) c.6067C>T (p.Arg2023Trp) n.3717C>T n.25+370C>T n.1648C>T c.6064C>T (p.Arg2022Trp) c.6172C>T (p.Arg2058Trp) c.6175C>T (p.Arg2059Trp) c.6148C>T (p.Arg2050Trp) c.6085C>T (p.Arg2029Trp) c.5956C>T (p.Arg1986Trp) c.5944C>T (p.Arg1982Trp) c.5917C>T (p.Arg1973Trp) n.6501C>T n.6475C>T c.6271C>T (p.Arg2091Trp) c.6265C>T (p.Arg2089Trp) c.6262C>T (p.Arg2088Trp) c.6157C>T (p.Arg2053Trp) c.6154C>T (p.Arg2052Trp) n.6260C>T n.6201C>T n.6246C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.77211282G>A | CA6198948 | MYO7A | c.6182G>A (p.Arg2061Gln) c.3983G>A c.6035G>A (p.Arg2012Gln) c.3608G>A (p.Arg1203Gln) c.6068G>A (p.Arg2023Gln) n.3718G>A n.25+371G>A n.1649G>A c.6065G>A (p.Arg2022Gln) c.6173G>A (p.Arg2058Gln) c.6176G>A (p.Arg2059Gln) c.6149G>A (p.Arg2050Gln) c.6086G>A (p.Arg2029Gln) c.5957G>A (p.Arg1986Gln) c.5945G>A (p.Arg1982Gln) c.5918G>A (p.Arg1973Gln) n.6502G>A n.6476G>A c.6272G>A (p.Arg2091Gln) c.6266G>A (p.Arg2089Gln) c.6263G>A (p.Arg2088Gln) c.6158G>A (p.Arg2053Gln) c.6155G>A (p.Arg2052Gln) n.6261G>A n.6202G>A n.6247G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77211282G>C | CA381936112 | MYO7A | c.6182G>C (p.Arg2061Pro) c.3983G>C c.6035G>C (p.Arg2012Pro) c.3608G>C (p.Arg1203Pro) c.6068G>C (p.Arg2023Pro) n.3718G>C n.25+371G>C n.1649G>C c.6065G>C (p.Arg2022Pro) c.6173G>C (p.Arg2058Pro) c.6176G>C (p.Arg2059Pro) c.6149G>C (p.Arg2050Pro) c.6086G>C (p.Arg2029Pro) c.5957G>C (p.Arg1986Pro) c.5945G>C (p.Arg1982Pro) c.5918G>C (p.Arg1973Pro) n.6502G>C n.6476G>C c.6272G>C (p.Arg2091Pro) c.6266G>C (p.Arg2089Pro) c.6263G>C (p.Arg2088Pro) c.6158G>C (p.Arg2053Pro) c.6155G>C (p.Arg2052Pro) n.6261G>C n.6202G>C n.6247G>C | |
11 | g.77211282G= | CA1984129893 | MYO7A | c.6182G= (p.Arg2061=) c.3983G= c.6035G= (p.Arg2012=) c.3608G= (p.Arg1203=) c.6068G= (p.Arg2023=) n.3718G= n.25+371G= n.1649G= c.6065G= (p.Arg2022=) c.6173G= (p.Arg2058=) c.6176G= (p.Arg2059=) c.6149G= (p.Arg2050=) c.6086G= (p.Arg2029=) c.5957G= (p.Arg1986=) c.5945G= (p.Arg1982=) c.5918G= (p.Arg1973=) n.6502G= n.6476G= c.6272G= (p.Arg2091=) c.6266G= (p.Arg2089=) c.6263G= (p.Arg2088=) c.6158G= (p.Arg2053=) c.6155G= (p.Arg2052=) n.6261G= n.6202G= n.6247G= | |
11 | g.77211282G>T | CA381936114 | MYO7A | c.6182G>T (p.Arg2061Leu) c.3983G>T c.6035G>T (p.Arg2012Leu) c.3608G>T (p.Arg1203Leu) c.6068G>T (p.Arg2023Leu) n.3718G>T n.25+371G>T n.1649G>T c.6065G>T (p.Arg2022Leu) c.6173G>T (p.Arg2058Leu) c.6176G>T (p.Arg2059Leu) c.6149G>T (p.Arg2050Leu) c.6086G>T (p.Arg2029Leu) c.5957G>T (p.Arg1986Leu) c.5945G>T (p.Arg1982Leu) c.5918G>T (p.Arg1973Leu) n.6502G>T n.6476G>T c.6272G>T (p.Arg2091Leu) c.6266G>T (p.Arg2089Leu) c.6263G>T (p.Arg2088Leu) c.6158G>T (p.Arg2053Leu) c.6155G>T (p.Arg2052Leu) n.6261G>T n.6202G>T n.6247G>T | gnomAD v4 |
11 | g.77211283G>A | CA475792022 | MYO7A | c.6183G>A (p.Arg2061=) c.3984G>A c.6036G>A (p.Arg2012=) c.3609G>A (p.Arg1203=) c.6069G>A (p.Arg2023=) n.3719G>A n.25+372G>A n.1650G>A c.6066G>A (p.Arg2022=) c.6174G>A (p.Arg2058=) c.6177G>A (p.Arg2059=) c.6150G>A (p.Arg2050=) c.6087G>A (p.Arg2029=) c.5958G>A (p.Arg1986=) c.5946G>A (p.Arg1982=) c.5919G>A (p.Arg1973=) n.6503G>A n.6477G>A c.6273G>A (p.Arg2091=) c.6267G>A (p.Arg2089=) c.6264G>A (p.Arg2088=) c.6159G>A (p.Arg2053=) c.6156G>A (p.Arg2052=) n.6262G>A n.6203G>A n.6248G>A | |
11 | g.77211283G>C | CA475792023 | MYO7A | c.6183G>C (p.Arg2061=) c.3984G>C c.6036G>C (p.Arg2012=) c.3609G>C (p.Arg1203=) c.6069G>C (p.Arg2023=) n.3719G>C n.25+372G>C n.1650G>C c.6066G>C (p.Arg2022=) c.6174G>C (p.Arg2058=) c.6177G>C (p.Arg2059=) c.6150G>C (p.Arg2050=) c.6087G>C (p.Arg2029=) c.5958G>C (p.Arg1986=) c.5946G>C (p.Arg1982=) c.5919G>C (p.Arg1973=) n.6503G>C n.6477G>C c.6273G>C (p.Arg2091=) c.6267G>C (p.Arg2089=) c.6264G>C (p.Arg2088=) c.6159G>C (p.Arg2053=) c.6156G>C (p.Arg2052=) n.6262G>C n.6203G>C n.6248G>C | |
11 | g.77211283G>T | CA475792025 | MYO7A | c.6183G>T (p.Arg2061=) c.3984G>T c.6036G>T (p.Arg2012=) c.3609G>T (p.Arg1203=) c.6069G>T (p.Arg2023=) n.3719G>T n.25+372G>T n.1650G>T c.6066G>T (p.Arg2022=) c.6174G>T (p.Arg2058=) c.6177G>T (p.Arg2059=) c.6150G>T (p.Arg2050=) c.6087G>T (p.Arg2029=) c.5958G>T (p.Arg1986=) c.5946G>T (p.Arg1982=) c.5919G>T (p.Arg1973=) n.6503G>T n.6477G>T c.6273G>T (p.Arg2091=) c.6267G>T (p.Arg2089=) c.6264G>T (p.Arg2088=) c.6159G>T (p.Arg2053=) c.6156G>T (p.Arg2052=) n.6262G>T n.6203G>T n.6248G>T | gnomAD v4 |
11 | g.77211284G>A | CA6198949 | MYO7A | c.6184G>A (p.Glu2062Lys) c.3985G>A c.6037G>A (p.Glu2013Lys) c.3610G>A (p.Glu1204Lys) c.6070G>A (p.Glu2024Lys) n.3720G>A n.25+373G>A n.1651G>A c.6067G>A (p.Glu2023Lys) c.6175G>A (p.Glu2059Lys) c.6178G>A (p.Glu2060Lys) c.6151G>A (p.Glu2051Lys) c.6088G>A (p.Glu2030Lys) c.5959G>A (p.Glu1987Lys) c.5947G>A (p.Glu1983Lys) c.5920G>A (p.Glu1974Lys) n.6504G>A n.6478G>A c.6274G>A (p.Glu2092Lys) c.6268G>A (p.Glu2090Lys) c.6265G>A (p.Glu2089Lys) c.6160G>A (p.Glu2054Lys) c.6157G>A (p.Glu2053Lys) n.6263G>A n.6204G>A n.6249G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77211284G>C | CA381936117 | MYO7A | c.6184G>C (p.Glu2062Gln) c.3985G>C c.6037G>C (p.Glu2013Gln) c.3610G>C (p.Glu1204Gln) c.6070G>C (p.Glu2024Gln) n.3720G>C n.25+373G>C n.1651G>C c.6067G>C (p.Glu2023Gln) c.6175G>C (p.Glu2059Gln) c.6178G>C (p.Glu2060Gln) c.6151G>C (p.Glu2051Gln) c.6088G>C (p.Glu2030Gln) c.5959G>C (p.Glu1987Gln) c.5947G>C (p.Glu1983Gln) c.5920G>C (p.Glu1974Gln) n.6504G>C n.6478G>C c.6274G>C (p.Glu2092Gln) c.6268G>C (p.Glu2090Gln) c.6265G>C (p.Glu2089Gln) c.6160G>C (p.Glu2054Gln) c.6157G>C (p.Glu2053Gln) n.6263G>C n.6204G>C n.6249G>C | |
11 | g.77211284G= | CA1984129894 | MYO7A | c.6184G= (p.Glu2062=) c.3985G= c.6037G= (p.Glu2013=) c.3610G= (p.Glu1204=) c.6070G= (p.Glu2024=) n.3720G= n.25+373G= n.1651G= c.6067G= (p.Glu2023=) c.6175G= (p.Glu2059=) c.6178G= (p.Glu2060=) c.6151G= (p.Glu2051=) c.6088G= (p.Glu2030=) c.5959G= (p.Glu1987=) c.5947G= (p.Glu1983=) c.5920G= (p.Glu1974=) n.6504G= n.6478G= c.6274G= (p.Glu2092=) c.6268G= (p.Glu2090=) c.6265G= (p.Glu2089=) c.6160G= (p.Glu2054=) c.6157G= (p.Glu2053=) n.6263G= n.6204G= n.6249G= | |
11 | g.77211284G>T | CA381936119 | MYO7A | c.6184G>T (p.Glu2062Ter) c.3985G>T c.6037G>T (p.Glu2013Ter) c.3610G>T (p.Glu1204Ter) c.6070G>T (p.Glu2024Ter) n.3720G>T n.25+373G>T n.1651G>T c.6067G>T (p.Glu2023Ter) c.6175G>T (p.Glu2059Ter) c.6178G>T (p.Glu2060Ter) c.6151G>T (p.Glu2051Ter) c.6088G>T (p.Glu2030Ter) c.5959G>T (p.Glu1987Ter) c.5947G>T (p.Glu1983Ter) c.5920G>T (p.Glu1974Ter) n.6504G>T n.6478G>T c.6274G>T (p.Glu2092Ter) c.6268G>T (p.Glu2090Ter) c.6265G>T (p.Glu2089Ter) c.6160G>T (p.Glu2054Ter) c.6157G>T (p.Glu2053Ter) n.6263G>T n.6204G>T n.6249G>T | ClinVar dbSNP gnomAD v4 |
11 | g.77211285A>C | CA381936127 | MYO7A | c.6185A>C (p.Glu2062Ala) c.3986A>C c.6038A>C (p.Glu2013Ala) c.3611A>C (p.Glu1204Ala) c.6071A>C (p.Glu2024Ala) n.3721A>C n.25+374A>C n.1652A>C c.6068A>C (p.Glu2023Ala) c.6176A>C (p.Glu2059Ala) c.6179A>C (p.Glu2060Ala) c.6152A>C (p.Glu2051Ala) c.6089A>C (p.Glu2030Ala) c.5960A>C (p.Glu1987Ala) c.5948A>C (p.Glu1983Ala) c.5921A>C (p.Glu1974Ala) n.6505A>C n.6479A>C c.6275A>C (p.Glu2092Ala) c.6269A>C (p.Glu2090Ala) c.6266A>C (p.Glu2089Ala) c.6161A>C (p.Glu2054Ala) c.6158A>C (p.Glu2053Ala) n.6264A>C n.6205A>C n.6250A>C | |
11 | g.77211285A>G | CA381936122 | MYO7A | c.6185A>G (p.Glu2062Gly) c.3986A>G c.6038A>G (p.Glu2013Gly) c.3611A>G (p.Glu1204Gly) c.6071A>G (p.Glu2024Gly) n.3721A>G n.25+374A>G n.1652A>G c.6068A>G (p.Glu2023Gly) c.6176A>G (p.Glu2059Gly) c.6179A>G (p.Glu2060Gly) c.6152A>G (p.Glu2051Gly) c.6089A>G (p.Glu2030Gly) c.5960A>G (p.Glu1987Gly) c.5948A>G (p.Glu1983Gly) c.5921A>G (p.Glu1974Gly) n.6505A>G n.6479A>G c.6275A>G (p.Glu2092Gly) c.6269A>G (p.Glu2090Gly) c.6266A>G (p.Glu2089Gly) c.6161A>G (p.Glu2054Gly) c.6158A>G (p.Glu2053Gly) n.6264A>G n.6205A>G n.6250A>G | |
11 | g.77211285A>T | CA381936124 | MYO7A | c.6185A>T (p.Glu2062Val) c.3986A>T c.6038A>T (p.Glu2013Val) c.3611A>T (p.Glu1204Val) c.6071A>T (p.Glu2024Val) n.3721A>T n.25+374A>T n.1652A>T c.6068A>T (p.Glu2023Val) c.6176A>T (p.Glu2059Val) c.6179A>T (p.Glu2060Val) c.6152A>T (p.Glu2051Val) c.6089A>T (p.Glu2030Val) c.5960A>T (p.Glu1987Val) c.5948A>T (p.Glu1983Val) c.5921A>T (p.Glu1974Val) n.6505A>T n.6479A>T c.6275A>T (p.Glu2092Val) c.6269A>T (p.Glu2090Val) c.6266A>T (p.Glu2089Val) c.6161A>T (p.Glu2054Val) c.6158A>T (p.Glu2053Val) n.6264A>T n.6205A>T n.6250A>T | gnomAD v4 |
11 | g.77211286G>A | CA475792026 | MYO7A | c.6186G>A (p.Glu2062=) c.3987G>A c.6039G>A (p.Glu2013=) c.3612G>A (p.Glu1204=) c.6072G>A (p.Glu2024=) n.3722G>A n.25+375G>A n.1653G>A c.6069G>A (p.Glu2023=) c.6177G>A (p.Glu2059=) c.6180G>A (p.Glu2060=) c.6153G>A (p.Glu2051=) c.6090G>A (p.Glu2030=) c.5961G>A (p.Glu1987=) c.5949G>A (p.Glu1983=) c.5922G>A (p.Glu1974=) n.6506G>A n.6480G>A c.6276G>A (p.Glu2092=) c.6270G>A (p.Glu2090=) c.6267G>A (p.Glu2089=) c.6162G>A (p.Glu2054=) c.6159G>A (p.Glu2053=) n.6265G>A n.6206G>A n.6251G>A | gnomAD v4 |
11 | g.77211286G>C | CA381936130 | MYO7A | c.6186G>C (p.Glu2062Asp) c.3987G>C c.6039G>C (p.Glu2013Asp) c.3612G>C (p.Glu1204Asp) c.6072G>C (p.Glu2024Asp) n.3722G>C n.25+375G>C n.1653G>C c.6069G>C (p.Glu2023Asp) c.6177G>C (p.Glu2059Asp) c.6180G>C (p.Glu2060Asp) c.6153G>C (p.Glu2051Asp) c.6090G>C (p.Glu2030Asp) c.5961G>C (p.Glu1987Asp) c.5949G>C (p.Glu1983Asp) c.5922G>C (p.Glu1974Asp) n.6506G>C n.6480G>C c.6276G>C (p.Glu2092Asp) c.6270G>C (p.Glu2090Asp) c.6267G>C (p.Glu2089Asp) c.6162G>C (p.Glu2054Asp) c.6159G>C (p.Glu2053Asp) n.6265G>C n.6206G>C n.6251G>C | |
11 | g.77211286G>T | CA381936132 | MYO7A | c.6186G>T (p.Glu2062Asp) c.3987G>T c.6039G>T (p.Glu2013Asp) c.3612G>T (p.Glu1204Asp) c.6072G>T (p.Glu2024Asp) n.3722G>T n.25+375G>T n.1653G>T c.6069G>T (p.Glu2023Asp) c.6177G>T (p.Glu2059Asp) c.6180G>T (p.Glu2060Asp) c.6153G>T (p.Glu2051Asp) c.6090G>T (p.Glu2030Asp) c.5961G>T (p.Glu1987Asp) c.5949G>T (p.Glu1983Asp) c.5922G>T (p.Glu1974Asp) n.6506G>T n.6480G>T c.6276G>T (p.Glu2092Asp) c.6270G>T (p.Glu2090Asp) c.6267G>T (p.Glu2089Asp) c.6162G>T (p.Glu2054Asp) c.6159G>T (p.Glu2053Asp) n.6265G>T n.6206G>T n.6251G>T | gnomAD v4 |
11 | g.77211287C>A | CA381936133 | MYO7A | c.6187C>A (p.Leu2063Met) c.3988C>A c.6040C>A (p.Leu2014Met) c.3613C>A (p.Leu1205Met) c.6073C>A (p.Leu2025Met) n.3723C>A n.25+376C>A n.1654C>A c.6070C>A (p.Leu2024Met) c.6178C>A (p.Leu2060Met) c.6181C>A (p.Leu2061Met) c.6154C>A (p.Leu2052Met) c.6091C>A (p.Leu2031Met) c.5962C>A (p.Leu1988Met) c.5950C>A (p.Leu1984Met) c.5923C>A (p.Leu1975Met) n.6507C>A n.6481C>A c.6277C>A (p.Leu2093Met) c.6271C>A (p.Leu2091Met) c.6268C>A (p.Leu2090Met) c.6163C>A (p.Leu2055Met) c.6160C>A (p.Leu2054Met) n.6266C>A n.6207C>A n.6252C>A | |
11 | g.77211287C>G | CA381936136 | MYO7A | c.6187C>G (p.Leu2063Val) c.3988C>G c.6040C>G (p.Leu2014Val) c.3613C>G (p.Leu1205Val) c.6073C>G (p.Leu2025Val) n.3723C>G n.25+376C>G n.1654C>G c.6070C>G (p.Leu2024Val) c.6178C>G (p.Leu2060Val) c.6181C>G (p.Leu2061Val) c.6154C>G (p.Leu2052Val) c.6091C>G (p.Leu2031Val) c.5962C>G (p.Leu1988Val) c.5950C>G (p.Leu1984Val) c.5923C>G (p.Leu1975Val) n.6507C>G n.6481C>G c.6277C>G (p.Leu2093Val) c.6271C>G (p.Leu2091Val) c.6268C>G (p.Leu2090Val) c.6163C>G (p.Leu2055Val) c.6160C>G (p.Leu2054Val) n.6266C>G n.6207C>G n.6252C>G | |
11 | g.77211287C>T | CA475792027 | MYO7A | c.6187C>T (p.Leu2063=) c.3988C>T c.6040C>T (p.Leu2014=) c.3613C>T (p.Leu1205=) c.6073C>T (p.Leu2025=) n.3723C>T n.25+376C>T n.1654C>T c.6070C>T (p.Leu2024=) c.6178C>T (p.Leu2060=) c.6181C>T (p.Leu2061=) c.6154C>T (p.Leu2052=) c.6091C>T (p.Leu2031=) c.5962C>T (p.Leu1988=) c.5950C>T (p.Leu1984=) c.5923C>T (p.Leu1975=) n.6507C>T n.6481C>T c.6277C>T (p.Leu2093=) c.6271C>T (p.Leu2091=) c.6268C>T (p.Leu2090=) c.6163C>T (p.Leu2055=) c.6160C>T (p.Leu2054=) n.6266C>T n.6207C>T n.6252C>T | gnomAD v4 |
11 | g.77211288T>A | CA381936139 | MYO7A | c.6188T>A (p.Leu2063Gln) c.3989T>A c.6041T>A (p.Leu2014Gln) c.3614T>A (p.Leu1205Gln) c.6074T>A (p.Leu2025Gln) n.3724T>A n.25+377T>A n.1655T>A c.6071T>A (p.Leu2024Gln) c.6179T>A (p.Leu2060Gln) c.6182T>A (p.Leu2061Gln) c.6155T>A (p.Leu2052Gln) c.6092T>A (p.Leu2031Gln) c.5963T>A (p.Leu1988Gln) c.5951T>A (p.Leu1984Gln) c.5924T>A (p.Leu1975Gln) n.6508T>A n.6482T>A c.6278T>A (p.Leu2093Gln) c.6272T>A (p.Leu2091Gln) c.6269T>A (p.Leu2090Gln) c.6164T>A (p.Leu2055Gln) c.6161T>A (p.Leu2054Gln) n.6267T>A n.6208T>A n.6253T>A | |
11 | g.77211288T>C | CA381936141 | MYO7A | c.6188T>C (p.Leu2063Pro) c.3989T>C c.6041T>C (p.Leu2014Pro) c.3614T>C (p.Leu1205Pro) c.6074T>C (p.Leu2025Pro) n.3724T>C n.25+377T>C n.1655T>C c.6071T>C (p.Leu2024Pro) c.6179T>C (p.Leu2060Pro) c.6182T>C (p.Leu2061Pro) c.6155T>C (p.Leu2052Pro) c.6092T>C (p.Leu2031Pro) c.5963T>C (p.Leu1988Pro) c.5951T>C (p.Leu1984Pro) c.5924T>C (p.Leu1975Pro) n.6508T>C n.6482T>C c.6278T>C (p.Leu2093Pro) c.6272T>C (p.Leu2091Pro) c.6269T>C (p.Leu2090Pro) c.6164T>C (p.Leu2055Pro) c.6161T>C (p.Leu2054Pro) n.6267T>C n.6208T>C n.6253T>C | |
11 | g.77211288T>G | CA381936142 | MYO7A | c.6188T>G (p.Leu2063Arg) c.3989T>G c.6041T>G (p.Leu2014Arg) c.3614T>G (p.Leu1205Arg) c.6074T>G (p.Leu2025Arg) n.3724T>G n.25+377T>G n.1655T>G c.6071T>G (p.Leu2024Arg) c.6179T>G (p.Leu2060Arg) c.6182T>G (p.Leu2061Arg) c.6155T>G (p.Leu2052Arg) c.6092T>G (p.Leu2031Arg) c.5963T>G (p.Leu1988Arg) c.5951T>G (p.Leu1984Arg) c.5924T>G (p.Leu1975Arg) n.6508T>G n.6482T>G c.6278T>G (p.Leu2093Arg) c.6272T>G (p.Leu2091Arg) c.6269T>G (p.Leu2090Arg) c.6164T>G (p.Leu2055Arg) c.6161T>G (p.Leu2054Arg) n.6267T>G n.6208T>G n.6253T>G | |
11 | g.77211289G>A | CA475792030 | MYO7A | c.6189G>A (p.Leu2063=) c.3990G>A c.6042G>A (p.Leu2014=) c.3615G>A (p.Leu1205=) c.6075G>A (p.Leu2025=) n.3725G>A n.25+378G>A n.1656G>A c.6072G>A (p.Leu2024=) c.6180G>A (p.Leu2060=) c.6183G>A (p.Leu2061=) c.6156G>A (p.Leu2052=) c.6093G>A (p.Leu2031=) c.5964G>A (p.Leu1988=) c.5952G>A (p.Leu1984=) c.5925G>A (p.Leu1975=) n.6509G>A n.6483G>A c.6279G>A (p.Leu2093=) c.6273G>A (p.Leu2091=) c.6270G>A (p.Leu2090=) c.6165G>A (p.Leu2055=) c.6162G>A (p.Leu2054=) n.6268G>A n.6209G>A n.6254G>A | gnomAD v4 COSMIC |
11 | g.77211289G>C | CA475792028 | MYO7A | c.6189G>C (p.Leu2063=) c.3990G>C c.6042G>C (p.Leu2014=) c.3615G>C (p.Leu1205=) c.6075G>C (p.Leu2025=) n.3725G>C n.25+378G>C n.1656G>C c.6072G>C (p.Leu2024=) c.6180G>C (p.Leu2060=) c.6183G>C (p.Leu2061=) c.6156G>C (p.Leu2052=) c.6093G>C (p.Leu2031=) c.5964G>C (p.Leu1988=) c.5952G>C (p.Leu1984=) c.5925G>C (p.Leu1975=) n.6509G>C n.6483G>C c.6279G>C (p.Leu2093=) c.6273G>C (p.Leu2091=) c.6270G>C (p.Leu2090=) c.6165G>C (p.Leu2055=) c.6162G>C (p.Leu2054=) n.6268G>C n.6209G>C n.6254G>C | |
11 | g.77211289G>T | CA475792029 | MYO7A | c.6189G>T (p.Leu2063=) c.3990G>T c.6042G>T (p.Leu2014=) c.3615G>T (p.Leu1205=) c.6075G>T (p.Leu2025=) n.3725G>T n.25+378G>T n.1656G>T c.6072G>T (p.Leu2024=) c.6180G>T (p.Leu2060=) c.6183G>T (p.Leu2061=) c.6156G>T (p.Leu2052=) c.6093G>T (p.Leu2031=) c.5964G>T (p.Leu1988=) c.5952G>T (p.Leu1984=) c.5925G>T (p.Leu1975=) n.6509G>T n.6483G>T c.6279G>T (p.Leu2093=) c.6273G>T (p.Leu2091=) c.6270G>T (p.Leu2090=) c.6165G>T (p.Leu2055=) c.6162G>T (p.Leu2054=) n.6268G>T n.6209G>T n.6254G>T | gnomAD v4 |
11 | g.77211290G>A | CA381936143 | MYO7A | c.6190G>A (p.Val2064Met) c.3991G>A c.6043G>A (p.Val2015Met) c.3616G>A (p.Val1206Met) c.6076G>A (p.Val2026Met) n.3726G>A n.25+379G>A n.1657G>A c.6073G>A (p.Val2025Met) c.6181G>A (p.Val2061Met) c.6184G>A (p.Val2062Met) c.6157G>A (p.Val2053Met) c.6094G>A (p.Val2032Met) c.5965G>A (p.Val1989Met) c.5953G>A (p.Val1985Met) c.5926G>A (p.Val1976Met) n.6510G>A n.6484G>A c.6280G>A (p.Val2094Met) c.6274G>A (p.Val2092Met) c.6271G>A (p.Val2091Met) c.6166G>A (p.Val2056Met) c.6163G>A (p.Val2055Met) n.6269G>A n.6210G>A n.6255G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77211290G>C | CA381936146 | MYO7A | c.6190G>C (p.Val2064Leu) c.3991G>C c.6043G>C (p.Val2015Leu) c.3616G>C (p.Val1206Leu) c.6076G>C (p.Val2026Leu) n.3726G>C n.25+379G>C n.1657G>C c.6073G>C (p.Val2025Leu) c.6181G>C (p.Val2061Leu) c.6184G>C (p.Val2062Leu) c.6157G>C (p.Val2053Leu) c.6094G>C (p.Val2032Leu) c.5965G>C (p.Val1989Leu) c.5953G>C (p.Val1985Leu) c.5926G>C (p.Val1976Leu) n.6510G>C n.6484G>C c.6280G>C (p.Val2094Leu) c.6274G>C (p.Val2092Leu) c.6271G>C (p.Val2091Leu) c.6166G>C (p.Val2056Leu) c.6163G>C (p.Val2055Leu) n.6269G>C n.6210G>C n.6255G>C | |
11 | g.77211290G= | CA1984129895 | MYO7A | c.6190G= (p.Val2064=) c.3991G= c.6043G= (p.Val2015=) c.3616G= (p.Val1206=) c.6076G= (p.Val2026=) n.3726G= n.25+379G= n.1657G= c.6073G= (p.Val2025=) c.6181G= (p.Val2061=) c.6184G= (p.Val2062=) c.6157G= (p.Val2053=) c.6094G= (p.Val2032=) c.5965G= (p.Val1989=) c.5953G= (p.Val1985=) c.5926G= (p.Val1976=) n.6510G= n.6484G= c.6280G= (p.Val2094=) c.6274G= (p.Val2092=) c.6271G= (p.Val2091=) c.6166G= (p.Val2056=) c.6163G= (p.Val2055=) n.6269G= n.6210G= n.6255G= | |
11 | g.77211290G>T | CA381936148 | MYO7A | c.6190G>T (p.Val2064Leu) c.3991G>T c.6043G>T (p.Val2015Leu) c.3616G>T (p.Val1206Leu) c.6076G>T (p.Val2026Leu) n.3726G>T n.25+379G>T n.1657G>T c.6073G>T (p.Val2025Leu) c.6181G>T (p.Val2061Leu) c.6184G>T (p.Val2062Leu) c.6157G>T (p.Val2053Leu) c.6094G>T (p.Val2032Leu) c.5965G>T (p.Val1989Leu) c.5953G>T (p.Val1985Leu) c.5926G>T (p.Val1976Leu) n.6510G>T n.6484G>T c.6280G>T (p.Val2094Leu) c.6274G>T (p.Val2092Leu) c.6271G>T (p.Val2091Leu) c.6166G>T (p.Val2056Leu) c.6163G>T (p.Val2055Leu) n.6269G>T n.6210G>T n.6255G>T | gnomAD v4 COSMIC |
11 | g.77211291T>A | CA381936150 | MYO7A | c.6191T>A (p.Val2064Glu) c.3992T>A c.6044T>A (p.Val2015Glu) c.3617T>A (p.Val1206Glu) c.6077T>A (p.Val2026Glu) n.3727T>A n.25+380T>A n.1658T>A c.6074T>A (p.Val2025Glu) c.6182T>A (p.Val2061Glu) c.6185T>A (p.Val2062Glu) c.6158T>A (p.Val2053Glu) c.6095T>A (p.Val2032Glu) c.5966T>A (p.Val1989Glu) c.5954T>A (p.Val1985Glu) c.5927T>A (p.Val1976Glu) n.6511T>A n.6485T>A c.6281T>A (p.Val2094Glu) c.6275T>A (p.Val2092Glu) c.6272T>A (p.Val2091Glu) c.6167T>A (p.Val2056Glu) c.6164T>A (p.Val2055Glu) n.6270T>A n.6211T>A n.6256T>A | |
11 | g.77211291T>C | CA381936153 | MYO7A | c.6191T>C (p.Val2064Ala) c.3992T>C c.6044T>C (p.Val2015Ala) c.3617T>C (p.Val1206Ala) c.6077T>C (p.Val2026Ala) n.3727T>C n.25+380T>C n.1658T>C c.6074T>C (p.Val2025Ala) c.6182T>C (p.Val2061Ala) c.6185T>C (p.Val2062Ala) c.6158T>C (p.Val2053Ala) c.6095T>C (p.Val2032Ala) c.5966T>C (p.Val1989Ala) c.5954T>C (p.Val1985Ala) c.5927T>C (p.Val1976Ala) n.6511T>C n.6485T>C c.6281T>C (p.Val2094Ala) c.6275T>C (p.Val2092Ala) c.6272T>C (p.Val2091Ala) c.6167T>C (p.Val2056Ala) c.6164T>C (p.Val2055Ala) n.6270T>C n.6211T>C n.6256T>C | gnomAD v4 COSMIC |
11 | g.77211291T>G | CA381936155 | MYO7A | c.6191T>G (p.Val2064Gly) c.3992T>G c.6044T>G (p.Val2015Gly) c.3617T>G (p.Val1206Gly) c.6077T>G (p.Val2026Gly) n.3727T>G n.25+380T>G n.1658T>G c.6074T>G (p.Val2025Gly) c.6182T>G (p.Val2061Gly) c.6185T>G (p.Val2062Gly) c.6158T>G (p.Val2053Gly) c.6095T>G (p.Val2032Gly) c.5966T>G (p.Val1989Gly) c.5954T>G (p.Val1985Gly) c.5927T>G (p.Val1976Gly) n.6511T>G n.6485T>G c.6281T>G (p.Val2094Gly) c.6275T>G (p.Val2092Gly) c.6272T>G (p.Val2091Gly) c.6167T>G (p.Val2056Gly) c.6164T>G (p.Val2055Gly) n.6270T>G n.6211T>G n.6256T>G | |
11 | g.77211292G>A | CA475792033 | MYO7A | c.6192G>A (p.Val2064=) c.3993G>A c.6045G>A (p.Val2015=) c.3618G>A (p.Val1206=) c.6078G>A (p.Val2026=) n.3728G>A n.25+381G>A n.1659G>A c.6075G>A (p.Val2025=) c.6183G>A (p.Val2061=) c.6186G>A (p.Val2062=) c.6159G>A (p.Val2053=) c.6096G>A (p.Val2032=) c.5967G>A (p.Val1989=) c.5955G>A (p.Val1985=) c.5928G>A (p.Val1976=) n.6512G>A n.6486G>A c.6282G>A (p.Val2094=) c.6276G>A (p.Val2092=) c.6273G>A (p.Val2091=) c.6168G>A (p.Val2056=) c.6165G>A (p.Val2055=) n.6271G>A n.6212G>A n.6257G>A | |
11 | g.77211292G>C | CA475792032 | MYO7A | c.6192G>C (p.Val2064=) c.3993G>C c.6045G>C (p.Val2015=) c.3618G>C (p.Val1206=) c.6078G>C (p.Val2026=) n.3728G>C n.25+381G>C n.1659G>C c.6075G>C (p.Val2025=) c.6183G>C (p.Val2061=) c.6186G>C (p.Val2062=) c.6159G>C (p.Val2053=) c.6096G>C (p.Val2032=) c.5967G>C (p.Val1989=) c.5955G>C (p.Val1985=) c.5928G>C (p.Val1976=) n.6512G>C n.6486G>C c.6282G>C (p.Val2094=) c.6276G>C (p.Val2092=) c.6273G>C (p.Val2091=) c.6168G>C (p.Val2056=) c.6165G>C (p.Val2055=) n.6271G>C n.6212G>C n.6257G>C | |
11 | g.77211292G>T | CA475792031 | MYO7A | c.6192G>T (p.Val2064=) c.3993G>T c.6045G>T (p.Val2015=) c.3618G>T (p.Val1206=) c.6078G>T (p.Val2026=) n.3728G>T n.25+381G>T n.1659G>T c.6075G>T (p.Val2025=) c.6183G>T (p.Val2061=) c.6186G>T (p.Val2062=) c.6159G>T (p.Val2053=) c.6096G>T (p.Val2032=) c.5967G>T (p.Val1989=) c.5955G>T (p.Val1985=) c.5928G>T (p.Val1976=) n.6512G>T n.6486G>T c.6282G>T (p.Val2094=) c.6276G>T (p.Val2092=) c.6273G>T (p.Val2091=) c.6168G>T (p.Val2056=) c.6165G>T (p.Val2055=) n.6271G>T n.6212G>T n.6257G>T | gnomAD v4 |
11 | g.77211292_77211293delinsGC | CA1984129896 | MYO7A | c.6192_6193delinsGC (p.Val2064=) c.3993_3994delinsGC c.6045_6046delinsGC (p.Val2015=) c.3618_3619delinsGC (p.Val1206=) c.6078_6079delinsGC (p.Val2026=) n.3728_3729delinsGC n.25+381_25+382delinsGC n.1659_1660delinsGC c.6075_6076delinsGC (p.Val2025=) c.6183_6184delinsGC (p.Val2061=) c.6186_6187delinsGC (p.Val2062=) c.6159_6160delinsGC (p.Val2053=) c.6096_6097delinsGC (p.Val2032=) c.5967_5968delinsGC (p.Val1989=) c.5955_5956delinsGC (p.Val1985=) c.5928_5929delinsGC (p.Val1976=) n.6512_6513delinsGC n.6486_6487delinsGC c.6282_6283delinsGC (p.Val2094=) c.6276_6277delinsGC (p.Val2092=) c.6273_6274delinsGC (p.Val2091=) c.6168_6169delinsGC (p.Val2056=) c.6165_6166delinsGC (p.Val2055=) n.6271_6272delinsGC n.6212_6213delinsGC n.6257_6258delinsGC | |
11 | g.77211293C>A | CA381936157 | MYO7A | c.6193C>A (p.Pro2065Thr) c.3994C>A c.6046C>A (p.Pro2016Thr) c.3619C>A (p.Pro1207Thr) c.6079C>A (p.Pro2027Thr) n.3729C>A n.25+382C>A n.1660C>A c.6076C>A (p.Pro2026Thr) c.6184C>A (p.Pro2062Thr) c.6187C>A (p.Pro2063Thr) c.6160C>A (p.Pro2054Thr) c.6097C>A (p.Pro2033Thr) c.5968C>A (p.Pro1990Thr) c.5956C>A (p.Pro1986Thr) c.5929C>A (p.Pro1977Thr) n.6513C>A n.6487C>A c.6283C>A (p.Pro2095Thr) c.6277C>A (p.Pro2093Thr) c.6274C>A (p.Pro2092Thr) c.6169C>A (p.Pro2057Thr) c.6166C>A (p.Pro2056Thr) n.6272C>A n.6213C>A n.6258C>A | ClinVar dbSNP gnomAD v4 |
11 | g.77211293C= | CA1984129897 | MYO7A | c.6193C= (p.Pro2065=) c.3994C= c.6046C= (p.Pro2016=) c.3619C= (p.Pro1207=) c.6079C= (p.Pro2027=) n.3729C= n.25+382C= n.1660C= c.6076C= (p.Pro2026=) c.6184C= (p.Pro2062=) c.6187C= (p.Pro2063=) c.6160C= (p.Pro2054=) c.6097C= (p.Pro2033=) c.5968C= (p.Pro1990=) c.5956C= (p.Pro1986=) c.5929C= (p.Pro1977=) n.6513C= n.6487C= c.6283C= (p.Pro2095=) c.6277C= (p.Pro2093=) c.6274C= (p.Pro2092=) c.6169C= (p.Pro2057=) c.6166C= (p.Pro2056=) n.6272C= n.6213C= n.6258C= | |
11 | g.77211293C>G | CA381936158 | MYO7A | c.6193C>G (p.Pro2065Ala) c.3994C>G c.6046C>G (p.Pro2016Ala) c.3619C>G (p.Pro1207Ala) c.6079C>G (p.Pro2027Ala) n.3729C>G n.25+382C>G n.1660C>G c.6076C>G (p.Pro2026Ala) c.6184C>G (p.Pro2062Ala) c.6187C>G (p.Pro2063Ala) c.6160C>G (p.Pro2054Ala) c.6097C>G (p.Pro2033Ala) c.5968C>G (p.Pro1990Ala) c.5956C>G (p.Pro1986Ala) c.5929C>G (p.Pro1977Ala) n.6513C>G n.6487C>G c.6283C>G (p.Pro2095Ala) c.6277C>G (p.Pro2093Ala) c.6274C>G (p.Pro2092Ala) c.6169C>G (p.Pro2057Ala) c.6166C>G (p.Pro2056Ala) n.6272C>G n.6213C>G n.6258C>G | |
11 | g.77211293C>T | CA381936156 | MYO7A | c.6193C>T (p.Pro2065Ser) c.3994C>T c.6046C>T (p.Pro2016Ser) c.3619C>T (p.Pro1207Ser) c.6079C>T (p.Pro2027Ser) n.3729C>T n.25+382C>T n.1660C>T c.6076C>T (p.Pro2026Ser) c.6184C>T (p.Pro2062Ser) c.6187C>T (p.Pro2063Ser) c.6160C>T (p.Pro2054Ser) c.6097C>T (p.Pro2033Ser) c.5968C>T (p.Pro1990Ser) c.5956C>T (p.Pro1986Ser) c.5929C>T (p.Pro1977Ser) n.6513C>T n.6487C>T c.6283C>T (p.Pro2095Ser) c.6277C>T (p.Pro2093Ser) c.6274C>T (p.Pro2092Ser) c.6169C>T (p.Pro2057Ser) c.6166C>T (p.Pro2056Ser) n.6272C>T n.6213C>T n.6258C>T | gnomAD v4 |
11 | g.77211296del | CA680427298 | MYO7A | c.6196del (p.Gln2066ArgfsTer?) c.3997del c.6049del (p.Gln2017ArgfsTer?) c.3622del (p.Gln1208ArgfsTer?) c.6082del (p.Gln2028ArgfsTer?) n.3732del n.25+385del n.1663del c.6079del (p.Gln2027ArgfsTer?) c.6187del (p.Gln2063ArgfsTer?) c.6190del (p.Gln2064ArgfsTer?) c.6163del (p.Gln2055ArgfsTer?) c.6100del (p.Gln2034ArgfsTer?) c.5971del (p.Gln1991ArgfsTer?) c.5959del (p.Gln1987ArgfsTer?) c.5932del (p.Gln1978ArgfsTer?) n.6516del n.6490del c.6286del (p.Gln2096ArgfsTer?) c.6280del (p.Gln2094ArgfsTer?) c.6277del (p.Gln2093ArgfsTer?) c.6172del (p.Gln2058ArgfsTer?) c.6169del (p.Gln2057ArgfsTer?) n.6275del n.6216del n.6261del | ClinVar dbSNP gnomAD v4 |
11 | g.77211294C>A | CA381936160 | MYO7A | c.6194C>A (p.Pro2065His) c.3995C>A c.6047C>A (p.Pro2016His) c.3620C>A (p.Pro1207His) c.6080C>A (p.Pro2027His) n.3730C>A n.25+383C>A n.1661C>A c.6077C>A (p.Pro2026His) c.6185C>A (p.Pro2062His) c.6188C>A (p.Pro2063His) c.6161C>A (p.Pro2054His) c.6098C>A (p.Pro2033His) c.5969C>A (p.Pro1990His) c.5957C>A (p.Pro1986His) c.5930C>A (p.Pro1977His) n.6514C>A n.6488C>A c.6284C>A (p.Pro2095His) c.6278C>A (p.Pro2093His) c.6275C>A (p.Pro2092His) c.6170C>A (p.Pro2057His) c.6167C>A (p.Pro2056His) n.6273C>A n.6214C>A n.6259C>A | |
11 | g.77211294C>G | CA381936162 | MYO7A | c.6194C>G (p.Pro2065Arg) c.3995C>G c.6047C>G (p.Pro2016Arg) c.3620C>G (p.Pro1207Arg) c.6080C>G (p.Pro2027Arg) n.3730C>G n.25+383C>G n.1661C>G c.6077C>G (p.Pro2026Arg) c.6185C>G (p.Pro2062Arg) c.6188C>G (p.Pro2063Arg) c.6161C>G (p.Pro2054Arg) c.6098C>G (p.Pro2033Arg) c.5969C>G (p.Pro1990Arg) c.5957C>G (p.Pro1986Arg) c.5930C>G (p.Pro1977Arg) n.6514C>G n.6488C>G c.6284C>G (p.Pro2095Arg) c.6278C>G (p.Pro2093Arg) c.6275C>G (p.Pro2092Arg) c.6170C>G (p.Pro2057Arg) c.6167C>G (p.Pro2056Arg) n.6273C>G n.6214C>G n.6259C>G | |
11 | g.77211294C>T | CA381936161 | MYO7A | c.6194C>T (p.Pro2065Leu) c.3995C>T c.6047C>T (p.Pro2016Leu) c.3620C>T (p.Pro1207Leu) c.6080C>T (p.Pro2027Leu) n.3730C>T n.25+383C>T n.1661C>T c.6077C>T (p.Pro2026Leu) c.6185C>T (p.Pro2062Leu) c.6188C>T (p.Pro2063Leu) c.6161C>T (p.Pro2054Leu) c.6098C>T (p.Pro2033Leu) c.5969C>T (p.Pro1990Leu) c.5957C>T (p.Pro1986Leu) c.5930C>T (p.Pro1977Leu) n.6514C>T n.6488C>T c.6284C>T (p.Pro2095Leu) c.6278C>T (p.Pro2093Leu) c.6275C>T (p.Pro2092Leu) c.6170C>T (p.Pro2057Leu) c.6167C>T (p.Pro2056Leu) n.6273C>T n.6214C>T n.6259C>T | gnomAD v4 |
11 | g.77211295C>A | CA475792034 | MYO7A | c.6195C>A (p.Pro2065=) c.3996C>A c.6048C>A (p.Pro2016=) c.3621C>A (p.Pro1207=) c.6081C>A (p.Pro2027=) n.3731C>A n.25+384C>A n.1662C>A c.6078C>A (p.Pro2026=) c.6186C>A (p.Pro2062=) c.6189C>A (p.Pro2063=) c.6162C>A (p.Pro2054=) c.6099C>A (p.Pro2033=) c.5970C>A (p.Pro1990=) c.5958C>A (p.Pro1986=) c.5931C>A (p.Pro1977=) n.6515C>A n.6489C>A c.6285C>A (p.Pro2095=) c.6279C>A (p.Pro2093=) c.6276C>A (p.Pro2092=) c.6171C>A (p.Pro2057=) c.6168C>A (p.Pro2056=) n.6274C>A n.6215C>A n.6260C>A | gnomAD v4 |
11 | g.77211295C>G | CA475792036 | MYO7A | c.6195C>G (p.Pro2065=) c.3996C>G c.6048C>G (p.Pro2016=) c.3621C>G (p.Pro1207=) c.6081C>G (p.Pro2027=) n.3731C>G n.25+384C>G n.1662C>G c.6078C>G (p.Pro2026=) c.6186C>G (p.Pro2062=) c.6189C>G (p.Pro2063=) c.6162C>G (p.Pro2054=) c.6099C>G (p.Pro2033=) c.5970C>G (p.Pro1990=) c.5958C>G (p.Pro1986=) c.5931C>G (p.Pro1977=) n.6515C>G n.6489C>G c.6285C>G (p.Pro2095=) c.6279C>G (p.Pro2093=) c.6276C>G (p.Pro2092=) c.6171C>G (p.Pro2057=) c.6168C>G (p.Pro2056=) n.6274C>G n.6215C>G n.6260C>G | |
11 | g.77211295C>T | CA475792035 | MYO7A | c.6195C>T (p.Pro2065=) c.3996C>T c.6048C>T (p.Pro2016=) c.3621C>T (p.Pro1207=) c.6081C>T (p.Pro2027=) n.3731C>T n.25+384C>T n.1662C>T c.6078C>T (p.Pro2026=) c.6186C>T (p.Pro2062=) c.6189C>T (p.Pro2063=) c.6162C>T (p.Pro2054=) c.6099C>T (p.Pro2033=) c.5970C>T (p.Pro1990=) c.5958C>T (p.Pro1986=) c.5931C>T (p.Pro1977=) n.6515C>T n.6489C>T c.6285C>T (p.Pro2095=) c.6279C>T (p.Pro2093=) c.6276C>T (p.Pro2092=) c.6171C>T (p.Pro2057=) c.6168C>T (p.Pro2056=) n.6274C>T n.6215C>T n.6260C>T | gnomAD v4 |
11 | g.77211296C>A | CA381936164 | MYO7A | c.6196C>A (p.Gln2066Lys) c.3997C>A c.6049C>A (p.Gln2017Lys) c.3622C>A (p.Gln1208Lys) c.6082C>A (p.Gln2028Lys) n.3732C>A n.25+385C>A n.1663C>A c.6079C>A (p.Gln2027Lys) c.6187C>A (p.Gln2063Lys) c.6190C>A (p.Gln2064Lys) c.6163C>A (p.Gln2055Lys) c.6100C>A (p.Gln2034Lys) c.5971C>A (p.Gln1991Lys) c.5959C>A (p.Gln1987Lys) c.5932C>A (p.Gln1978Lys) n.6516C>A n.6490C>A c.6286C>A (p.Gln2096Lys) c.6280C>A (p.Gln2094Lys) c.6277C>A (p.Gln2093Lys) c.6172C>A (p.Gln2058Lys) c.6169C>A (p.Gln2057Lys) n.6275C>A n.6216C>A n.6261C>A | |
11 | g.77211296C= | CA1984129898 | MYO7A | c.6196C= (p.Gln2066=) c.3997C= c.6049C= (p.Gln2017=) c.3622C= (p.Gln1208=) c.6082C= (p.Gln2028=) n.3732C= n.25+385C= n.1663C= c.6079C= (p.Gln2027=) c.6187C= (p.Gln2063=) c.6190C= (p.Gln2064=) c.6163C= (p.Gln2055=) c.6100C= (p.Gln2034=) c.5971C= (p.Gln1991=) c.5959C= (p.Gln1987=) c.5932C= (p.Gln1978=) n.6516C= n.6490C= c.6286C= (p.Gln2096=) c.6280C= (p.Gln2094=) c.6277C= (p.Gln2093=) c.6172C= (p.Gln2058=) c.6169C= (p.Gln2057=) n.6275C= n.6216C= n.6261C= | |
11 | g.77211296C>G | CA381936166 | MYO7A | c.6196C>G (p.Gln2066Glu) c.3997C>G c.6049C>G (p.Gln2017Glu) c.3622C>G (p.Gln1208Glu) c.6082C>G (p.Gln2028Glu) n.3732C>G n.25+385C>G n.1663C>G c.6079C>G (p.Gln2027Glu) c.6187C>G (p.Gln2063Glu) c.6190C>G (p.Gln2064Glu) c.6163C>G (p.Gln2055Glu) c.6100C>G (p.Gln2034Glu) c.5971C>G (p.Gln1991Glu) c.5959C>G (p.Gln1987Glu) c.5932C>G (p.Gln1978Glu) n.6516C>G n.6490C>G c.6286C>G (p.Gln2096Glu) c.6280C>G (p.Gln2094Glu) c.6277C>G (p.Gln2093Glu) c.6172C>G (p.Gln2058Glu) c.6169C>G (p.Gln2057Glu) n.6275C>G n.6216C>G n.6261C>G | |
11 | g.77211296C>T | CA16609577 | MYO7A | c.6196C>T (p.Gln2066Ter) c.3997C>T c.6049C>T (p.Gln2017Ter) c.3622C>T (p.Gln1208Ter) c.6082C>T (p.Gln2028Ter) n.3732C>T n.25+385C>T n.1663C>T c.6079C>T (p.Gln2027Ter) c.6187C>T (p.Gln2063Ter) c.6190C>T (p.Gln2064Ter) c.6163C>T (p.Gln2055Ter) c.6100C>T (p.Gln2034Ter) c.5971C>T (p.Gln1991Ter) c.5959C>T (p.Gln1987Ter) c.5932C>T (p.Gln1978Ter) n.6516C>T n.6490C>T c.6286C>T (p.Gln2096Ter) c.6280C>T (p.Gln2094Ter) c.6277C>T (p.Gln2093Ter) c.6172C>T (p.Gln2058Ter) c.6169C>T (p.Gln2057Ter) n.6275C>T n.6216C>T n.6261C>T | ClinVar dbSNP gnomAD v4 |
11 | g.77211297A>C | CA381936169 | MYO7A | c.6197A>C (p.Gln2066Pro) c.3998A>C c.6050A>C (p.Gln2017Pro) c.3623A>C (p.Gln1208Pro) c.6083A>C (p.Gln2028Pro) n.3733A>C n.25+386A>C n.1664A>C c.6080A>C (p.Gln2027Pro) c.6188A>C (p.Gln2063Pro) c.6191A>C (p.Gln2064Pro) c.6164A>C (p.Gln2055Pro) c.6101A>C (p.Gln2034Pro) c.5972A>C (p.Gln1991Pro) c.5960A>C (p.Gln1987Pro) c.5933A>C (p.Gln1978Pro) n.6517A>C n.6491A>C c.6287A>C (p.Gln2096Pro) c.6281A>C (p.Gln2094Pro) c.6278A>C (p.Gln2093Pro) c.6173A>C (p.Gln2058Pro) c.6170A>C (p.Gln2057Pro) n.6276A>C n.6217A>C n.6262A>C | |
11 | g.77211297A>G | CA381936171 | MYO7A | c.6197A>G (p.Gln2066Arg) c.3998A>G c.6050A>G (p.Gln2017Arg) c.3623A>G (p.Gln1208Arg) c.6083A>G (p.Gln2028Arg) n.3733A>G n.25+386A>G n.1664A>G c.6080A>G (p.Gln2027Arg) c.6188A>G (p.Gln2063Arg) c.6191A>G (p.Gln2064Arg) c.6164A>G (p.Gln2055Arg) c.6101A>G (p.Gln2034Arg) c.5972A>G (p.Gln1991Arg) c.5960A>G (p.Gln1987Arg) c.5933A>G (p.Gln1978Arg) n.6517A>G n.6491A>G c.6287A>G (p.Gln2096Arg) c.6281A>G (p.Gln2094Arg) c.6278A>G (p.Gln2093Arg) c.6173A>G (p.Gln2058Arg) c.6170A>G (p.Gln2057Arg) n.6276A>G n.6217A>G n.6262A>G | |
11 | g.77211297A>T | CA381936172 | MYO7A | c.6197A>T (p.Gln2066Leu) c.3998A>T c.6050A>T (p.Gln2017Leu) c.3623A>T (p.Gln1208Leu) c.6083A>T (p.Gln2028Leu) n.3733A>T n.25+386A>T n.1664A>T c.6080A>T (p.Gln2027Leu) c.6188A>T (p.Gln2063Leu) c.6191A>T (p.Gln2064Leu) c.6164A>T (p.Gln2055Leu) c.6101A>T (p.Gln2034Leu) c.5972A>T (p.Gln1991Leu) c.5960A>T (p.Gln1987Leu) c.5933A>T (p.Gln1978Leu) n.6517A>T n.6491A>T c.6287A>T (p.Gln2096Leu) c.6281A>T (p.Gln2094Leu) c.6278A>T (p.Gln2093Leu) c.6173A>T (p.Gln2058Leu) c.6170A>T (p.Gln2057Leu) n.6276A>T n.6217A>T n.6262A>T | |
11 | g.77211298G>A | CA475792038 | MYO7A | c.6198G>A (p.Gln2066=) c.3999G>A c.6051G>A (p.Gln2017=) c.3624G>A (p.Gln1208=) c.6084G>A (p.Gln2028=) n.3734G>A n.25+387G>A n.1665G>A c.6081G>A (p.Gln2027=) c.6189G>A (p.Gln2063=) c.6192G>A (p.Gln2064=) c.6165G>A (p.Gln2055=) c.6102G>A (p.Gln2034=) c.5973G>A (p.Gln1991=) c.5961G>A (p.Gln1987=) c.5934G>A (p.Gln1978=) n.6518G>A n.6492G>A c.6288G>A (p.Gln2096=) c.6282G>A (p.Gln2094=) c.6279G>A (p.Gln2093=) c.6174G>A (p.Gln2058=) c.6171G>A (p.Gln2057=) n.6277G>A n.6218G>A n.6263G>A | |
11 | g.77211298G>C | CA381936174 | MYO7A | c.6198G>C (p.Gln2066His) c.3999G>C c.6051G>C (p.Gln2017His) c.3624G>C (p.Gln1208His) c.6084G>C (p.Gln2028His) n.3734G>C n.25+387G>C n.1665G>C c.6081G>C (p.Gln2027His) c.6189G>C (p.Gln2063His) c.6192G>C (p.Gln2064His) c.6165G>C (p.Gln2055His) c.6102G>C (p.Gln2034His) c.5973G>C (p.Gln1991His) c.5961G>C (p.Gln1987His) c.5934G>C (p.Gln1978His) n.6518G>C n.6492G>C c.6288G>C (p.Gln2096His) c.6282G>C (p.Gln2094His) c.6279G>C (p.Gln2093His) c.6174G>C (p.Gln2058His) c.6171G>C (p.Gln2057His) n.6277G>C n.6218G>C n.6263G>C | |
11 | g.77211298G= | CA1984129899 | MYO7A | c.6198G= (p.Gln2066=) c.3999G= c.6051G= (p.Gln2017=) c.3624G= (p.Gln1208=) c.6084G= (p.Gln2028=) n.3734G= n.25+387G= n.1665G= c.6081G= (p.Gln2027=) c.6189G= (p.Gln2063=) c.6192G= (p.Gln2064=) c.6165G= (p.Gln2055=) c.6102G= (p.Gln2034=) c.5973G= (p.Gln1991=) c.5961G= (p.Gln1987=) c.5934G= (p.Gln1978=) n.6518G= n.6492G= c.6288G= (p.Gln2096=) c.6282G= (p.Gln2094=) c.6279G= (p.Gln2093=) c.6174G= (p.Gln2058=) c.6171G= (p.Gln2057=) n.6277G= n.6218G= n.6263G= | |
11 | g.77211298G>T | CA224827829 | MYO7A | c.6198G>T (p.Gln2066His) c.3999G>T c.6051G>T (p.Gln2017His) c.3624G>T (p.Gln1208His) c.6084G>T (p.Gln2028His) n.3734G>T n.25+387G>T n.1665G>T c.6081G>T (p.Gln2027His) c.6189G>T (p.Gln2063His) c.6192G>T (p.Gln2064His) c.6165G>T (p.Gln2055His) c.6102G>T (p.Gln2034His) c.5973G>T (p.Gln1991His) c.5961G>T (p.Gln1987His) c.5934G>T (p.Gln1978His) n.6518G>T n.6492G>T c.6288G>T (p.Gln2096His) c.6282G>T (p.Gln2094His) c.6279G>T (p.Gln2093His) c.6174G>T (p.Gln2058His) c.6171G>T (p.Gln2057His) n.6277G>T n.6218G>T n.6263G>T | dbSNP gnomAD v4 |
11 | g.77211299G>A | CA381936176 | MYO7A | c.6199G>A (p.Asp2067Asn) c.4000G>A c.6052G>A (p.Asp2018Asn) c.3625G>A (p.Asp1209Asn) c.6085G>A (p.Asp2029Asn) n.3735G>A n.25+388G>A n.1666G>A c.6082G>A (p.Asp2028Asn) c.6190G>A (p.Asp2064Asn) c.6193G>A (p.Asp2065Asn) c.6166G>A (p.Asp2056Asn) c.6103G>A (p.Asp2035Asn) c.5974G>A (p.Asp1992Asn) c.5962G>A (p.Asp1988Asn) c.5935G>A (p.Asp1979Asn) n.6519G>A n.6493G>A c.6289G>A (p.Asp2097Asn) c.6283G>A (p.Asp2095Asn) c.6280G>A (p.Asp2094Asn) c.6175G>A (p.Asp2059Asn) c.6172G>A (p.Asp2058Asn) n.6278G>A n.6219G>A n.6264G>A | gnomAD v4 |
11 | g.77211299G>C | CA381936179 | MYO7A | c.6199G>C (p.Asp2067His) c.4000G>C c.6052G>C (p.Asp2018His) c.3625G>C (p.Asp1209His) c.6085G>C (p.Asp2029His) n.3735G>C n.25+388G>C n.1666G>C c.6082G>C (p.Asp2028His) c.6190G>C (p.Asp2064His) c.6193G>C (p.Asp2065His) c.6166G>C (p.Asp2056His) c.6103G>C (p.Asp2035His) c.5974G>C (p.Asp1992His) c.5962G>C (p.Asp1988His) c.5935G>C (p.Asp1979His) n.6519G>C n.6493G>C c.6289G>C (p.Asp2097His) c.6283G>C (p.Asp2095His) c.6280G>C (p.Asp2094His) c.6175G>C (p.Asp2059His) c.6172G>C (p.Asp2058His) n.6278G>C n.6219G>C n.6264G>C | |
11 | g.77211299G>T | CA381936181 | MYO7A | c.6199G>T (p.Asp2067Tyr) c.4000G>T c.6052G>T (p.Asp2018Tyr) c.3625G>T (p.Asp1209Tyr) c.6085G>T (p.Asp2029Tyr) n.3735G>T n.25+388G>T n.1666G>T c.6082G>T (p.Asp2028Tyr) c.6190G>T (p.Asp2064Tyr) c.6193G>T (p.Asp2065Tyr) c.6166G>T (p.Asp2056Tyr) c.6103G>T (p.Asp2035Tyr) c.5974G>T (p.Asp1992Tyr) c.5962G>T (p.Asp1988Tyr) c.5935G>T (p.Asp1979Tyr) n.6519G>T n.6493G>T c.6289G>T (p.Asp2097Tyr) c.6283G>T (p.Asp2095Tyr) c.6280G>T (p.Asp2094Tyr) c.6175G>T (p.Asp2059Tyr) c.6172G>T (p.Asp2058Tyr) n.6278G>T n.6219G>T n.6264G>T | gnomAD v4 |
11 | g.77211300A>C | CA381936185 | MYO7A | c.6200A>C (p.Asp2067Ala) c.4001A>C c.6053A>C (p.Asp2018Ala) c.3626A>C (p.Asp1209Ala) c.6086A>C (p.Asp2029Ala) n.3736A>C n.25+389A>C n.1667A>C c.6083A>C (p.Asp2028Ala) c.6191A>C (p.Asp2064Ala) c.6194A>C (p.Asp2065Ala) c.6167A>C (p.Asp2056Ala) c.6104A>C (p.Asp2035Ala) c.5975A>C (p.Asp1992Ala) c.5963A>C (p.Asp1988Ala) c.5936A>C (p.Asp1979Ala) n.6520A>C n.6494A>C c.6290A>C (p.Asp2097Ala) c.6284A>C (p.Asp2095Ala) c.6281A>C (p.Asp2094Ala) c.6176A>C (p.Asp2059Ala) c.6173A>C (p.Asp2058Ala) n.6279A>C n.6220A>C n.6265A>C | |
11 | g.77211300A>G | CA381936187 | MYO7A | c.6200A>G (p.Asp2067Gly) c.4001A>G c.6053A>G (p.Asp2018Gly) c.3626A>G (p.Asp1209Gly) c.6086A>G (p.Asp2029Gly) n.3736A>G n.25+389A>G n.1667A>G c.6083A>G (p.Asp2028Gly) c.6191A>G (p.Asp2064Gly) c.6194A>G (p.Asp2065Gly) c.6167A>G (p.Asp2056Gly) c.6104A>G (p.Asp2035Gly) c.5975A>G (p.Asp1992Gly) c.5963A>G (p.Asp1988Gly) c.5936A>G (p.Asp1979Gly) n.6520A>G n.6494A>G c.6290A>G (p.Asp2097Gly) c.6284A>G (p.Asp2095Gly) c.6281A>G (p.Asp2094Gly) c.6176A>G (p.Asp2059Gly) c.6173A>G (p.Asp2058Gly) n.6279A>G n.6220A>G n.6265A>G | |
11 | g.77211300A>T | CA381936189 | MYO7A | c.6200A>T (p.Asp2067Val) c.4001A>T c.6053A>T (p.Asp2018Val) c.3626A>T (p.Asp1209Val) c.6086A>T (p.Asp2029Val) n.3736A>T n.25+389A>T n.1667A>T c.6083A>T (p.Asp2028Val) c.6191A>T (p.Asp2064Val) c.6194A>T (p.Asp2065Val) c.6167A>T (p.Asp2056Val) c.6104A>T (p.Asp2035Val) c.5975A>T (p.Asp1992Val) c.5963A>T (p.Asp1988Val) c.5936A>T (p.Asp1979Val) n.6520A>T n.6494A>T c.6290A>T (p.Asp2097Val) c.6284A>T (p.Asp2095Val) c.6281A>T (p.Asp2094Val) c.6176A>T (p.Asp2059Val) c.6173A>T (p.Asp2058Val) n.6279A>T n.6220A>T n.6265A>T | |
11 | g.77211301C>A | CA381936193 | MYO7A | c.6201C>A (p.Asp2067Glu) c.4002C>A c.6054C>A (p.Asp2018Glu) c.3627C>A (p.Asp1209Glu) c.6087C>A (p.Asp2029Glu) n.3737C>A n.25+390C>A n.1668C>A c.6084C>A (p.Asp2028Glu) c.6192C>A (p.Asp2064Glu) c.6195C>A (p.Asp2065Glu) c.6168C>A (p.Asp2056Glu) c.6105C>A (p.Asp2035Glu) c.5976C>A (p.Asp1992Glu) c.5964C>A (p.Asp1988Glu) c.5937C>A (p.Asp1979Glu) n.6521C>A n.6495C>A c.6291C>A (p.Asp2097Glu) c.6285C>A (p.Asp2095Glu) c.6282C>A (p.Asp2094Glu) c.6177C>A (p.Asp2059Glu) c.6174C>A (p.Asp2058Glu) n.6280C>A n.6221C>A n.6266C>A | dbSNP gnomAD v4 |
11 | g.77211301C>G | CA381936194 | MYO7A | c.6201C>G (p.Asp2067Glu) c.4002C>G c.6054C>G (p.Asp2018Glu) c.3627C>G (p.Asp1209Glu) c.6087C>G (p.Asp2029Glu) n.3737C>G n.25+390C>G n.1668C>G c.6084C>G (p.Asp2028Glu) c.6192C>G (p.Asp2064Glu) c.6195C>G (p.Asp2065Glu) c.6168C>G (p.Asp2056Glu) c.6105C>G (p.Asp2035Glu) c.5976C>G (p.Asp1992Glu) c.5964C>G (p.Asp1988Glu) c.5937C>G (p.Asp1979Glu) n.6521C>G n.6495C>G c.6291C>G (p.Asp2097Glu) c.6285C>G (p.Asp2095Glu) c.6282C>G (p.Asp2094Glu) c.6177C>G (p.Asp2059Glu) c.6174C>G (p.Asp2058Glu) n.6280C>G n.6221C>G n.6266C>G | gnomAD v4 |
11 | g.77211301C>T | CA475792039 | MYO7A | c.6201C>T (p.Asp2067=) c.4002C>T c.6054C>T (p.Asp2018=) c.3627C>T (p.Asp1209=) c.6087C>T (p.Asp2029=) n.3737C>T n.25+390C>T n.1668C>T c.6084C>T (p.Asp2028=) c.6192C>T (p.Asp2064=) c.6195C>T (p.Asp2065=) c.6168C>T (p.Asp2056=) c.6105C>T (p.Asp2035=) c.5976C>T (p.Asp1992=) c.5964C>T (p.Asp1988=) c.5937C>T (p.Asp1979=) n.6521C>T n.6495C>T c.6291C>T (p.Asp2097=) c.6285C>T (p.Asp2095=) c.6282C>T (p.Asp2094=) c.6177C>T (p.Asp2059=) c.6174C>T (p.Asp2058=) n.6280C>T n.6221C>T n.6266C>T | gnomAD v4 |
11 | g.77211302C>A | CA381936198 | MYO7A | c.6202C>A (p.Leu2068Ile) c.4003C>A c.6055C>A (p.Leu2019Ile) c.3628C>A (p.Leu1210Ile) c.6088C>A (p.Leu2030Ile) n.3738C>A n.25+391C>A n.1669C>A c.6085C>A (p.Leu2029Ile) c.6193C>A (p.Leu2065Ile) c.6196C>A (p.Leu2066Ile) c.6169C>A (p.Leu2057Ile) c.6106C>A (p.Leu2036Ile) c.5977C>A (p.Leu1993Ile) c.5965C>A (p.Leu1989Ile) c.5938C>A (p.Leu1980Ile) n.6522C>A n.6496C>A c.6292C>A (p.Leu2098Ile) c.6286C>A (p.Leu2096Ile) c.6283C>A (p.Leu2095Ile) c.6178C>A (p.Leu2060Ile) c.6175C>A (p.Leu2059Ile) n.6281C>A n.6267C>A | gnomAD v4 |
11 | g.77211302C>G | CA381936202 | MYO7A | c.6202C>G (p.Leu2068Val) c.4003C>G c.6055C>G (p.Leu2019Val) c.3628C>G (p.Leu1210Val) c.6088C>G (p.Leu2030Val) n.3738C>G n.25+391C>G n.1669C>G c.6085C>G (p.Leu2029Val) c.6193C>G (p.Leu2065Val) c.6196C>G (p.Leu2066Val) c.6169C>G (p.Leu2057Val) c.6106C>G (p.Leu2036Val) c.5977C>G (p.Leu1993Val) c.5965C>G (p.Leu1989Val) c.5938C>G (p.Leu1980Val) n.6522C>G n.6496C>G c.6292C>G (p.Leu2098Val) c.6286C>G (p.Leu2096Val) c.6283C>G (p.Leu2095Val) c.6178C>G (p.Leu2060Val) c.6175C>G (p.Leu2059Val) n.6281C>G n.6267C>G | |
11 | g.77211302C>T | CA381936200 | MYO7A | c.6202C>T (p.Leu2068Phe) c.4003C>T c.6055C>T (p.Leu2019Phe) c.3628C>T (p.Leu1210Phe) c.6088C>T (p.Leu2030Phe) n.3738C>T n.25+391C>T n.1669C>T c.6085C>T (p.Leu2029Phe) c.6193C>T (p.Leu2065Phe) c.6196C>T (p.Leu2066Phe) c.6169C>T (p.Leu2057Phe) c.6106C>T (p.Leu2036Phe) c.5977C>T (p.Leu1993Phe) c.5965C>T (p.Leu1989Phe) c.5938C>T (p.Leu1980Phe) n.6522C>T n.6496C>T c.6292C>T (p.Leu2098Phe) c.6286C>T (p.Leu2096Phe) c.6283C>T (p.Leu2095Phe) c.6178C>T (p.Leu2060Phe) c.6175C>T (p.Leu2059Phe) n.6281C>T n.6267C>T | gnomAD v4 |
11 | g.77211303T>A | CA381936206 | MYO7A | c.6203T>A (p.Leu2068His) c.4004T>A c.6056T>A (p.Leu2019His) c.3629T>A (p.Leu1210His) c.6089T>A (p.Leu2030His) n.3739T>A n.25+392T>A n.1670T>A c.6086T>A (p.Leu2029His) c.6194T>A (p.Leu2065His) c.6197T>A (p.Leu2066His) c.6170T>A (p.Leu2057His) c.6107T>A (p.Leu2036His) c.5978T>A (p.Leu1993His) c.5966T>A (p.Leu1989His) c.5939T>A (p.Leu1980His) n.6523T>A n.6497T>A c.6293T>A (p.Leu2098His) c.6287T>A (p.Leu2096His) c.6284T>A (p.Leu2095His) c.6179T>A (p.Leu2060His) c.6176T>A (p.Leu2059His) n.6282T>A n.6268T>A | gnomAD v4 |
11 | g.77211303T>C | CA381936208 | MYO7A | c.6203T>C (p.Leu2068Pro) c.4004T>C c.6056T>C (p.Leu2019Pro) c.3629T>C (p.Leu1210Pro) c.6089T>C (p.Leu2030Pro) n.3739T>C n.25+392T>C n.1670T>C c.6086T>C (p.Leu2029Pro) c.6194T>C (p.Leu2065Pro) c.6197T>C (p.Leu2066Pro) c.6170T>C (p.Leu2057Pro) c.6107T>C (p.Leu2036Pro) c.5978T>C (p.Leu1993Pro) c.5966T>C (p.Leu1989Pro) c.5939T>C (p.Leu1980Pro) n.6523T>C n.6497T>C c.6293T>C (p.Leu2098Pro) c.6287T>C (p.Leu2096Pro) c.6284T>C (p.Leu2095Pro) c.6179T>C (p.Leu2060Pro) c.6176T>C (p.Leu2059Pro) n.6282T>C n.6268T>C | gnomAD v4 |
11 | g.77211303T>G | CA6198950 | MYO7A | c.6203T>G (p.Leu2068Arg) c.4004T>G c.6056T>G (p.Leu2019Arg) c.3629T>G (p.Leu1210Arg) c.6089T>G (p.Leu2030Arg) n.3739T>G n.25+392T>G n.1670T>G c.6086T>G (p.Leu2029Arg) c.6194T>G (p.Leu2065Arg) c.6197T>G (p.Leu2066Arg) c.6170T>G (p.Leu2057Arg) c.6107T>G (p.Leu2036Arg) c.5978T>G (p.Leu1993Arg) c.5966T>G (p.Leu1989Arg) c.5939T>G (p.Leu1980Arg) n.6523T>G n.6497T>G c.6293T>G (p.Leu2098Arg) c.6287T>G (p.Leu2096Arg) c.6284T>G (p.Leu2095Arg) c.6179T>G (p.Leu2060Arg) c.6176T>G (p.Leu2059Arg) n.6282T>G n.6268T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77211303T= | CA1984129900 | MYO7A | c.6203T= (p.Leu2068=) c.4004T= c.6056T= (p.Leu2019=) c.3629T= (p.Leu1210=) c.6089T= (p.Leu2030=) n.3739T= n.25+392T= n.1670T= c.6086T= (p.Leu2029=) c.6194T= (p.Leu2065=) c.6197T= (p.Leu2066=) c.6170T= (p.Leu2057=) c.6107T= (p.Leu2036=) c.5978T= (p.Leu1993=) c.5966T= (p.Leu1989=) c.5939T= (p.Leu1980=) n.6523T= n.6497T= c.6293T= (p.Leu2098=) c.6287T= (p.Leu2096=) c.6284T= (p.Leu2095=) c.6179T= (p.Leu2060=) c.6176T= (p.Leu2059=) n.6282T= n.6268T= | |
11 | g.77211304dup | CA2695215067 | MYO7A | c.6204dup (p.Ile2069TyrfsTer7) c.4005dup c.6057dup (p.Ile2020TyrfsTer7) c.3630dup (p.Ile1211TyrfsTer7) c.6090dup (p.Ile2031TyrfsTer7) n.3740dup n.25+393dup n.1671dup c.6087dup (p.Ile2030TyrfsTer7) c.6195dup (p.Ile2066TyrfsTer7) c.6198dup (p.Ile2067TyrfsTer7) c.6171dup (p.Ile2058TyrfsTer7) c.6108dup (p.Ile2037TyrfsTer7) c.5979dup (p.Ile1994TyrfsTer7) c.5967dup (p.Ile1990TyrfsTer7) c.5940dup (p.Ile1981TyrfsTer7) n.6524dup n.6498dup c.6294dup (p.Ile2099TyrfsTer7) c.6288dup (p.Ile2097TyrfsTer7) c.6285dup (p.Ile2096TyrfsTer7) c.6180dup (p.Ile2061TyrfsTer7) c.6177dup (p.Ile2060TyrfsTer7) n.6283dup n.6269dup | |
11 | g.77211304T>A | CA475792041 | MYO7A | c.6204T>A (p.Leu2068=) c.4005T>A c.6057T>A (p.Leu2019=) c.3630T>A (p.Leu1210=) c.6090T>A (p.Leu2030=) n.3740T>A n.25+393T>A n.1671T>A c.6087T>A (p.Leu2029=) c.6195T>A (p.Leu2065=) c.6198T>A (p.Leu2066=) c.6171T>A (p.Leu2057=) c.6108T>A (p.Leu2036=) c.5979T>A (p.Leu1993=) c.5967T>A (p.Leu1989=) c.5940T>A (p.Leu1980=) n.6524T>A n.6498T>A c.6294T>A (p.Leu2098=) c.6288T>A (p.Leu2096=) c.6285T>A (p.Leu2095=) c.6180T>A (p.Leu2060=) c.6177T>A (p.Leu2059=) n.6283T>A n.6269T>A | |
11 | g.77211304T>C | CA475792042 | MYO7A | c.6204T>C (p.Leu2068=) c.4005T>C c.6057T>C (p.Leu2019=) c.3630T>C (p.Leu1210=) c.6090T>C (p.Leu2030=) n.3740T>C n.25+393T>C n.1671T>C c.6087T>C (p.Leu2029=) c.6195T>C (p.Leu2065=) c.6198T>C (p.Leu2066=) c.6171T>C (p.Leu2057=) c.6108T>C (p.Leu2036=) c.5979T>C (p.Leu1993=) c.5967T>C (p.Leu1989=) c.5940T>C (p.Leu1980=) n.6524T>C n.6498T>C c.6294T>C (p.Leu2098=) c.6288T>C (p.Leu2096=) c.6285T>C (p.Leu2095=) c.6180T>C (p.Leu2060=) c.6177T>C (p.Leu2059=) n.6283T>C n.6269T>C | ClinVar dbSNP gnomAD v4 |
11 | g.77211304T>G | CA475792043 | MYO7A | c.6204T>G (p.Leu2068=) c.4005T>G c.6057T>G (p.Leu2019=) c.3630T>G (p.Leu1210=) c.6090T>G (p.Leu2030=) n.3740T>G n.25+393T>G n.1671T>G c.6087T>G (p.Leu2029=) c.6195T>G (p.Leu2065=) c.6198T>G (p.Leu2066=) c.6171T>G (p.Leu2057=) c.6108T>G (p.Leu2036=) c.5979T>G (p.Leu1993=) c.5967T>G (p.Leu1989=) c.5940T>G (p.Leu1980=) n.6524T>G n.6498T>G c.6294T>G (p.Leu2098=) c.6288T>G (p.Leu2096=) c.6285T>G (p.Leu2095=) c.6180T>G (p.Leu2060=) c.6177T>G (p.Leu2059=) n.6283T>G n.6269T>G | |
11 | g.77211305_77211306del | CA2695215068 | MYO7A | c.6205_6206del (p.Ile2069ProfsTer6) c.4006_4007del c.6058_6059del (p.Ile2020ProfsTer6) c.3631_3632del (p.Ile1211ProfsTer6) c.6091_6092del (p.Ile2031ProfsTer6) n.3741_3742del n.25+394_25+395del n.1672_1673del c.6088_6089del (p.Ile2030ProfsTer6) c.6196_6197del (p.Ile2066ProfsTer6) c.6199_6200del (p.Ile2067ProfsTer6) c.6172_6173del (p.Ile2058ProfsTer6) c.6109_6110del (p.Ile2037ProfsTer6) c.5980_5981del (p.Ile1994ProfsTer6) c.5968_5969del (p.Ile1990ProfsTer6) c.5941_5942del (p.Ile1981ProfsTer6) n.6525_6526del n.6499_6500del c.6295_6296del (p.Ile2099ProfsTer6) c.6289_6290del (p.Ile2097ProfsTer6) c.6286_6287del (p.Ile2096ProfsTer6) c.6181_6182del (p.Ile2061ProfsTer6) c.6178_6179del (p.Ile2060ProfsTer6) n.6284_6285del n.6270_6271del | |
11 | g.77211305A= | CA1984129901 | MYO7A | c.6205A= (p.Ile2069=) c.4006A= c.6058A= (p.Ile2020=) c.3631A= (p.Ile1211=) c.6091A= (p.Ile2031=) n.3741A= n.25+394A= n.1672A= c.6088A= (p.Ile2030=) c.6196A= (p.Ile2066=) c.6199A= (p.Ile2067=) c.6172A= (p.Ile2058=) c.6109A= (p.Ile2037=) c.5980A= (p.Ile1994=) c.5968A= (p.Ile1990=) c.5941A= (p.Ile1981=) n.6525A= n.6499A= c.6295A= (p.Ile2099=) c.6289A= (p.Ile2097=) c.6286A= (p.Ile2096=) c.6181A= (p.Ile2061=) c.6178A= (p.Ile2060=) n.6284A= n.6270A= | |
11 | g.77211305A>C | CA381936212 | MYO7A | c.6205A>C (p.Ile2069Leu) c.4006A>C c.6058A>C (p.Ile2020Leu) c.3631A>C (p.Ile1211Leu) c.6091A>C (p.Ile2031Leu) n.3741A>C n.25+394A>C n.1672A>C c.6088A>C (p.Ile2030Leu) c.6196A>C (p.Ile2066Leu) c.6199A>C (p.Ile2067Leu) c.6172A>C (p.Ile2058Leu) c.6109A>C (p.Ile2037Leu) c.5980A>C (p.Ile1994Leu) c.5968A>C (p.Ile1990Leu) c.5941A>C (p.Ile1981Leu) n.6525A>C n.6499A>C c.6295A>C (p.Ile2099Leu) c.6289A>C (p.Ile2097Leu) c.6286A>C (p.Ile2096Leu) c.6181A>C (p.Ile2061Leu) c.6178A>C (p.Ile2060Leu) n.6284A>C n.6270A>C | |
11 | g.77211305A>G | CA381936213 | MYO7A | c.6205A>G (p.Ile2069Val) c.4006A>G c.6058A>G (p.Ile2020Val) c.3631A>G (p.Ile1211Val) c.6091A>G (p.Ile2031Val) n.3741A>G n.25+394A>G n.1672A>G c.6088A>G (p.Ile2030Val) c.6196A>G (p.Ile2066Val) c.6199A>G (p.Ile2067Val) c.6172A>G (p.Ile2058Val) c.6109A>G (p.Ile2037Val) c.5980A>G (p.Ile1994Val) c.5968A>G (p.Ile1990Val) c.5941A>G (p.Ile1981Val) n.6525A>G n.6499A>G c.6295A>G (p.Ile2099Val) c.6289A>G (p.Ile2097Val) c.6286A>G (p.Ile2096Val) c.6181A>G (p.Ile2061Val) c.6178A>G (p.Ile2060Val) n.6284A>G n.6270A>G | ClinVar |
11 | g.77211305A>T | CA224827839 | MYO7A | c.6205A>T (p.Ile2069Phe) c.4006A>T c.6058A>T (p.Ile2020Phe) c.3631A>T (p.Ile1211Phe) c.6091A>T (p.Ile2031Phe) n.3741A>T n.25+394A>T n.1672A>T c.6088A>T (p.Ile2030Phe) c.6196A>T (p.Ile2066Phe) c.6199A>T (p.Ile2067Phe) c.6172A>T (p.Ile2058Phe) c.6109A>T (p.Ile2037Phe) c.5980A>T (p.Ile1994Phe) c.5968A>T (p.Ile1990Phe) c.5941A>T (p.Ile1981Phe) n.6525A>T n.6499A>T c.6295A>T (p.Ile2099Phe) c.6289A>T (p.Ile2097Phe) c.6286A>T (p.Ile2096Phe) c.6181A>T (p.Ile2061Phe) c.6178A>T (p.Ile2060Phe) n.6284A>T n.6270A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77211306T>A | CA381936217 | MYO7A | c.6206T>A (p.Ile2069Asn) c.4007T>A c.6059T>A (p.Ile2020Asn) c.3632T>A (p.Ile1211Asn) c.6092T>A (p.Ile2031Asn) n.3742T>A n.25+395T>A n.1673T>A c.6089T>A (p.Ile2030Asn) c.6197T>A (p.Ile2066Asn) c.6200T>A (p.Ile2067Asn) c.6173T>A (p.Ile2058Asn) c.6110T>A (p.Ile2037Asn) c.5981T>A (p.Ile1994Asn) c.5969T>A (p.Ile1990Asn) c.5942T>A (p.Ile1981Asn) n.6526T>A n.6500T>A c.6296T>A (p.Ile2099Asn) c.6290T>A (p.Ile2097Asn) c.6287T>A (p.Ile2096Asn) c.6182T>A (p.Ile2061Asn) c.6179T>A (p.Ile2060Asn) n.6285T>A n.6271T>A | dbSNP |
11 | g.77211306T>C | CA381936220 | MYO7A | c.6206T>C (p.Ile2069Thr) c.4007T>C c.6059T>C (p.Ile2020Thr) c.3632T>C (p.Ile1211Thr) c.6092T>C (p.Ile2031Thr) n.3742T>C n.25+395T>C n.1673T>C c.6089T>C (p.Ile2030Thr) c.6197T>C (p.Ile2066Thr) c.6200T>C (p.Ile2067Thr) c.6173T>C (p.Ile2058Thr) c.6110T>C (p.Ile2037Thr) c.5981T>C (p.Ile1994Thr) c.5969T>C (p.Ile1990Thr) c.5942T>C (p.Ile1981Thr) n.6526T>C n.6500T>C c.6296T>C (p.Ile2099Thr) c.6290T>C (p.Ile2097Thr) c.6287T>C (p.Ile2096Thr) c.6182T>C (p.Ile2061Thr) c.6179T>C (p.Ile2060Thr) n.6285T>C n.6271T>C | gnomAD v4 |
11 | g.77211306T>G | CA381936221 | MYO7A | c.6206T>G (p.Ile2069Ser) c.4007T>G c.6059T>G (p.Ile2020Ser) c.3632T>G (p.Ile1211Ser) c.6092T>G (p.Ile2031Ser) n.3742T>G n.25+395T>G n.1673T>G c.6089T>G (p.Ile2030Ser) c.6197T>G (p.Ile2066Ser) c.6200T>G (p.Ile2067Ser) c.6173T>G (p.Ile2058Ser) c.6110T>G (p.Ile2037Ser) c.5981T>G (p.Ile1994Ser) c.5969T>G (p.Ile1990Ser) c.5942T>G (p.Ile1981Ser) n.6526T>G n.6500T>G c.6296T>G (p.Ile2099Ser) c.6290T>G (p.Ile2097Ser) c.6287T>G (p.Ile2096Ser) c.6182T>G (p.Ile2061Ser) c.6179T>G (p.Ile2060Ser) n.6285T>G n.6271T>G | |
11 | g.77211306T= | CA1984129902 | MYO7A | c.6206T= (p.Ile2069=) c.4007T= c.6059T= (p.Ile2020=) c.3632T= (p.Ile1211=) c.6092T= (p.Ile2031=) n.3742T= n.25+395T= n.1673T= c.6089T= (p.Ile2030=) c.6197T= (p.Ile2066=) c.6200T= (p.Ile2067=) c.6173T= (p.Ile2058=) c.6110T= (p.Ile2037=) c.5981T= (p.Ile1994=) c.5969T= (p.Ile1990=) c.5942T= (p.Ile1981=) n.6526T= n.6500T= c.6296T= (p.Ile2099=) c.6290T= (p.Ile2097=) c.6287T= (p.Ile2096=) c.6182T= (p.Ile2061=) c.6179T= (p.Ile2060=) n.6285T= n.6271T= | |
11 | g.77211307C>A | CA475792044 | MYO7A | c.6207C>A (p.Ile2069=) c.4008C>A c.6060C>A (p.Ile2020=) c.3633C>A (p.Ile1211=) c.6093C>A (p.Ile2031=) n.3743C>A n.25+396C>A n.1674C>A c.6090C>A (p.Ile2030=) c.6198C>A (p.Ile2066=) c.6201C>A (p.Ile2067=) c.6174C>A (p.Ile2058=) c.6111C>A (p.Ile2037=) c.5982C>A (p.Ile1994=) c.5970C>A (p.Ile1990=) c.5943C>A (p.Ile1981=) n.6527C>A n.6501C>A c.6297C>A (p.Ile2099=) c.6291C>A (p.Ile2097=) c.6288C>A (p.Ile2096=) c.6183C>A (p.Ile2061=) c.6180C>A (p.Ile2060=) n.6286C>A n.6272C>A | gnomAD v4 |
11 | g.77211307C= | CA1984129903 | MYO7A | c.6207C= (p.Ile2069=) c.4008C= c.6060C= (p.Ile2020=) c.3633C= (p.Ile1211=) c.6093C= (p.Ile2031=) n.3743C= n.25+396C= n.1674C= c.6090C= (p.Ile2030=) c.6198C= (p.Ile2066=) c.6201C= (p.Ile2067=) c.6174C= (p.Ile2058=) c.6111C= (p.Ile2037=) c.5982C= (p.Ile1994=) c.5970C= (p.Ile1990=) c.5943C= (p.Ile1981=) n.6527C= n.6501C= c.6297C= (p.Ile2099=) c.6291C= (p.Ile2097=) c.6288C= (p.Ile2096=) c.6183C= (p.Ile2061=) c.6180C= (p.Ile2060=) n.6286C= n.6272C= | |
11 | g.77211307C>G | CA381936224 | MYO7A | c.6207C>G (p.Ile2069Met) c.4008C>G c.6060C>G (p.Ile2020Met) c.3633C>G (p.Ile1211Met) c.6093C>G (p.Ile2031Met) n.3743C>G n.25+396C>G n.1674C>G c.6090C>G (p.Ile2030Met) c.6198C>G (p.Ile2066Met) c.6201C>G (p.Ile2067Met) c.6174C>G (p.Ile2058Met) c.6111C>G (p.Ile2037Met) c.5982C>G (p.Ile1994Met) c.5970C>G (p.Ile1990Met) c.5943C>G (p.Ile1981Met) n.6527C>G n.6501C>G c.6297C>G (p.Ile2099Met) c.6291C>G (p.Ile2097Met) c.6288C>G (p.Ile2096Met) c.6183C>G (p.Ile2061Met) c.6180C>G (p.Ile2060Met) n.6286C>G n.6272C>G | |
11 | g.77211307C>T | CA475792045 | MYO7A | c.6207C>T (p.Ile2069=) c.4008C>T c.6060C>T (p.Ile2020=) c.3633C>T (p.Ile1211=) c.6093C>T (p.Ile2031=) n.3743C>T n.25+396C>T n.1674C>T c.6090C>T (p.Ile2030=) c.6198C>T (p.Ile2066=) c.6201C>T (p.Ile2067=) c.6174C>T (p.Ile2058=) c.6111C>T (p.Ile2037=) c.5982C>T (p.Ile1994=) c.5970C>T (p.Ile1990=) c.5943C>T (p.Ile1981=) n.6527C>T n.6501C>T c.6297C>T (p.Ile2099=) c.6291C>T (p.Ile2097=) c.6288C>T (p.Ile2096=) c.6183C>T (p.Ile2061=) c.6180C>T (p.Ile2060=) n.6286C>T n.6272C>T | ClinVar dbSNP gnomAD v2 |
11 | g.77211308C>A | CA475792046 | MYO7A | c.6208C>A (p.Arg2070=) c.4009C>A c.6061C>A (p.Arg2021=) c.3634C>A (p.Arg1212=) c.6094C>A (p.Arg2032=) n.3744C>A n.25+397C>A n.1675C>A c.6091C>A (p.Arg2031=) c.6199C>A (p.Arg2067=) c.6202C>A (p.Arg2068=) c.6175C>A (p.Arg2059=) c.6112C>A (p.Arg2038=) c.5983C>A (p.Arg1995=) c.5971C>A (p.Arg1991=) c.5944C>A (p.Arg1982=) n.6528C>A n.6502C>A c.6298C>A (p.Arg2100=) c.6292C>A (p.Arg2098=) c.6289C>A (p.Arg2097=) c.6184C>A (p.Arg2062=) c.6181C>A (p.Arg2061=) n.6287C>A n.6273C>A | gnomAD v4 |
11 | g.77211308C= | CA1984129904 | MYO7A | c.6208C= (p.Arg2070=) c.4009C= c.6061C= (p.Arg2021=) c.3634C= (p.Arg1212=) c.6094C= (p.Arg2032=) n.3744C= n.25+397C= n.1675C= c.6091C= (p.Arg2031=) c.6199C= (p.Arg2067=) c.6202C= (p.Arg2068=) c.6175C= (p.Arg2059=) c.6112C= (p.Arg2038=) c.5983C= (p.Arg1995=) c.5971C= (p.Arg1991=) c.5944C= (p.Arg1982=) n.6528C= n.6502C= c.6298C= (p.Arg2100=) c.6292C= (p.Arg2098=) c.6289C= (p.Arg2097=) c.6184C= (p.Arg2062=) c.6181C= (p.Arg2061=) n.6287C= n.6273C= | |
11 | g.77211308C>G | CA381936227 | MYO7A | c.6208C>G (p.Arg2070Gly) c.4009C>G c.6061C>G (p.Arg2021Gly) c.3634C>G (p.Arg1212Gly) c.6094C>G (p.Arg2032Gly) n.3744C>G n.25+397C>G n.1675C>G c.6091C>G (p.Arg2031Gly) c.6199C>G (p.Arg2067Gly) c.6202C>G (p.Arg2068Gly) c.6175C>G (p.Arg2059Gly) c.6112C>G (p.Arg2038Gly) c.5983C>G (p.Arg1995Gly) c.5971C>G (p.Arg1991Gly) c.5944C>G (p.Arg1982Gly) n.6528C>G n.6502C>G c.6298C>G (p.Arg2100Gly) c.6292C>G (p.Arg2098Gly) c.6289C>G (p.Arg2097Gly) c.6184C>G (p.Arg2062Gly) c.6181C>G (p.Arg2061Gly) n.6287C>G n.6273C>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77211308C>T | CA6198951 | MYO7A | c.6208C>T (p.Arg2070Trp) c.4009C>T c.6061C>T (p.Arg2021Trp) c.3634C>T (p.Arg1212Trp) c.6094C>T (p.Arg2032Trp) n.3744C>T n.25+397C>T n.1675C>T c.6091C>T (p.Arg2031Trp) c.6199C>T (p.Arg2067Trp) c.6202C>T (p.Arg2068Trp) c.6175C>T (p.Arg2059Trp) c.6112C>T (p.Arg2038Trp) c.5983C>T (p.Arg1995Trp) c.5971C>T (p.Arg1991Trp) c.5944C>T (p.Arg1982Trp) n.6528C>T n.6502C>T c.6298C>T (p.Arg2100Trp) c.6292C>T (p.Arg2098Trp) c.6289C>T (p.Arg2097Trp) c.6184C>T (p.Arg2062Trp) c.6181C>T (p.Arg2061Trp) n.6287C>T n.6273C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77211309G>A | CA132424 | MYO7A | c.6209G>A (p.Arg2070Gln) c.4010G>A c.6062G>A (p.Arg2021Gln) c.3635G>A (p.Arg1212Gln) c.6095G>A (p.Arg2032Gln) n.3745G>A n.25+398G>A n.1676G>A c.6092G>A (p.Arg2031Gln) c.6200G>A (p.Arg2067Gln) c.6203G>A (p.Arg2068Gln) c.6176G>A (p.Arg2059Gln) c.6113G>A (p.Arg2038Gln) c.5984G>A (p.Arg1995Gln) c.5972G>A (p.Arg1991Gln) c.5945G>A (p.Arg1982Gln) n.6529G>A n.6503G>A c.6299G>A (p.Arg2100Gln) c.6293G>A (p.Arg2098Gln) c.6290G>A (p.Arg2097Gln) c.6185G>A (p.Arg2062Gln) c.6182G>A (p.Arg2061Gln) n.6288G>A n.6274G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77211309G>C | CA381936232 | MYO7A | c.6209G>C (p.Arg2070Pro) c.4010G>C c.6062G>C (p.Arg2021Pro) c.3635G>C (p.Arg1212Pro) c.6095G>C (p.Arg2032Pro) n.3745G>C n.25+398G>C n.1676G>C c.6092G>C (p.Arg2031Pro) c.6200G>C (p.Arg2067Pro) c.6203G>C (p.Arg2068Pro) c.6176G>C (p.Arg2059Pro) c.6113G>C (p.Arg2038Pro) c.5984G>C (p.Arg1995Pro) c.5972G>C (p.Arg1991Pro) c.5945G>C (p.Arg1982Pro) n.6529G>C n.6503G>C c.6299G>C (p.Arg2100Pro) c.6293G>C (p.Arg2098Pro) c.6290G>C (p.Arg2097Pro) c.6185G>C (p.Arg2062Pro) c.6182G>C (p.Arg2061Pro) n.6288G>C n.6274G>C | |
11 | g.77211309G= | CA1984129905 | MYO7A | c.6209G= (p.Arg2070=) c.4010G= c.6062G= (p.Arg2021=) c.3635G= (p.Arg1212=) c.6095G= (p.Arg2032=) n.3745G= n.25+398G= n.1676G= c.6092G= (p.Arg2031=) c.6200G= (p.Arg2067=) c.6203G= (p.Arg2068=) c.6176G= (p.Arg2059=) c.6113G= (p.Arg2038=) c.5984G= (p.Arg1995=) c.5972G= (p.Arg1991=) c.5945G= (p.Arg1982=) n.6529G= n.6503G= c.6299G= (p.Arg2100=) c.6293G= (p.Arg2098=) c.6290G= (p.Arg2097=) c.6185G= (p.Arg2062=) c.6182G= (p.Arg2061=) n.6288G= n.6274G= | |
11 | g.77211309G>T | CA381936234 | MYO7A | c.6209G>T (p.Arg2070Leu) c.4010G>T c.6062G>T (p.Arg2021Leu) c.3635G>T (p.Arg1212Leu) c.6095G>T (p.Arg2032Leu) n.3745G>T n.25+398G>T n.1676G>T c.6092G>T (p.Arg2031Leu) c.6200G>T (p.Arg2067Leu) c.6203G>T (p.Arg2068Leu) c.6176G>T (p.Arg2059Leu) c.6113G>T (p.Arg2038Leu) c.5984G>T (p.Arg1995Leu) c.5972G>T (p.Arg1991Leu) c.5945G>T (p.Arg1982Leu) n.6529G>T n.6503G>T c.6299G>T (p.Arg2100Leu) c.6293G>T (p.Arg2098Leu) c.6290G>T (p.Arg2097Leu) c.6185G>T (p.Arg2062Leu) c.6182G>T (p.Arg2061Leu) n.6288G>T n.6274G>T | gnomAD v4 |
11 | g.77211310G>A | CA475792049 | MYO7A | c.6210G>A (p.Arg2070=) c.4011G>A c.6063G>A (p.Arg2021=) c.3636G>A (p.Arg1212=) c.6096G>A (p.Arg2032=) n.3746G>A n.25+399G>A n.1677G>A c.6093G>A (p.Arg2031=) c.6201G>A (p.Arg2067=) c.6204G>A (p.Arg2068=) c.6177G>A (p.Arg2059=) c.6114G>A (p.Arg2038=) c.5985G>A (p.Arg1995=) c.5973G>A (p.Arg1991=) c.5946G>A (p.Arg1982=) n.6530G>A n.6504G>A c.6300G>A (p.Arg2100=) c.6294G>A (p.Arg2098=) c.6291G>A (p.Arg2097=) c.6186G>A (p.Arg2062=) c.6183G>A (p.Arg2061=) n.6289G>A n.6275G>A | gnomAD v4 |
11 | g.77211310G>C | CA475792050 | MYO7A | c.6210G>C (p.Arg2070=) c.4011G>C c.6063G>C (p.Arg2021=) c.3636G>C (p.Arg1212=) c.6096G>C (p.Arg2032=) n.3746G>C n.25+399G>C n.1677G>C c.6093G>C (p.Arg2031=) c.6201G>C (p.Arg2067=) c.6204G>C (p.Arg2068=) c.6177G>C (p.Arg2059=) c.6114G>C (p.Arg2038=) c.5985G>C (p.Arg1995=) c.5973G>C (p.Arg1991=) c.5946G>C (p.Arg1982=) n.6530G>C n.6504G>C c.6300G>C (p.Arg2100=) c.6294G>C (p.Arg2098=) c.6291G>C (p.Arg2097=) c.6186G>C (p.Arg2062=) c.6183G>C (p.Arg2061=) n.6289G>C n.6275G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77211310G= | CA1984129906 | MYO7A | c.6210G= (p.Arg2070=) c.4011G= c.6063G= (p.Arg2021=) c.3636G= (p.Arg1212=) c.6096G= (p.Arg2032=) n.3746G= n.25+399G= n.1677G= c.6093G= (p.Arg2031=) c.6201G= (p.Arg2067=) c.6204G= (p.Arg2068=) c.6177G= (p.Arg2059=) c.6114G= (p.Arg2038=) c.5985G= (p.Arg1995=) c.5973G= (p.Arg1991=) c.5946G= (p.Arg1982=) n.6530G= n.6504G= c.6300G= (p.Arg2100=) c.6294G= (p.Arg2098=) c.6291G= (p.Arg2097=) c.6186G= (p.Arg2062=) c.6183G= (p.Arg2061=) n.6289G= n.6275G= | |
11 | g.77211310G>T | CA475792051 | MYO7A | c.6210G>T (p.Arg2070=) c.4011G>T c.6063G>T (p.Arg2021=) c.3636G>T (p.Arg1212=) c.6096G>T (p.Arg2032=) n.3746G>T n.25+399G>T n.1677G>T c.6093G>T (p.Arg2031=) c.6201G>T (p.Arg2067=) c.6204G>T (p.Arg2068=) c.6177G>T (p.Arg2059=) c.6114G>T (p.Arg2038=) c.5985G>T (p.Arg1995=) c.5973G>T (p.Arg1991=) c.5946G>T (p.Arg1982=) n.6530G>T n.6504G>T c.6300G>T (p.Arg2100=) c.6294G>T (p.Arg2098=) c.6291G>T (p.Arg2097=) c.6186G>T (p.Arg2062=) c.6183G>T (p.Arg2061=) n.6289G>T n.6275G>T | gnomAD v4 |
11 | g.77211310_77211311delinsAT | CA645584045 | MYO7A | c.6210_6211delinsAT (p.Arg2071Ter) c.4011_4012delinsAT c.6063_6064delinsAT (p.Arg2022Ter) c.3636_3637delinsAT (p.Arg1213Ter) c.6096_6097delinsAT (p.Arg2033Ter) n.3746_3747delinsAT n.25+399_25+400delinsAT n.1677_1678delinsAT c.6093_6094delinsAT (p.Arg2032Ter) c.6201_6202delinsAT (p.Arg2068Ter) c.6204_6205delinsAT (p.Arg2069Ter) c.6177_6178delinsAT (p.Arg2060Ter) c.6114_6115delinsAT (p.Arg2039Ter) c.5985_5986delinsAT (p.Arg1996Ter) c.5973_5974delinsAT (p.Arg1992Ter) c.5946_5947delinsAT (p.Arg1983Ter) n.6530_6531delinsAT n.6504_6505delinsAT c.6300_6301delinsAT (p.Arg2101Ter) c.6294_6295delinsAT (p.Arg2099Ter) c.6291_6292delinsAT (p.Arg2098Ter) c.6186_6187delinsAT (p.Arg2063Ter) c.6183_6184delinsAT (p.Arg2062Ter) n.6289_6290delinsAT n.6275_6276delinsAT | COSMIC |
11 | g.77211311C>A | CA381936237 | MYO7A | c.6211C>A (p.Gln2071Lys) c.4012C>A c.6064C>A (p.Gln2022Lys) c.3637C>A (p.Gln1213Lys) c.6097C>A (p.Gln2033Lys) n.3747C>A n.25+400C>A n.1678C>A c.6094C>A (p.Gln2032Lys) c.6202C>A (p.Gln2068Lys) c.6205C>A (p.Gln2069Lys) c.6178C>A (p.Gln2060Lys) c.6115C>A (p.Gln2039Lys) c.5986C>A (p.Gln1996Lys) c.5974C>A (p.Gln1992Lys) c.5947C>A (p.Gln1983Lys) n.6531C>A n.6505C>A c.6301C>A (p.Gln2101Lys) c.6295C>A (p.Gln2099Lys) c.6292C>A (p.Gln2098Lys) c.6187C>A (p.Gln2063Lys) c.6184C>A (p.Gln2062Lys) n.6290C>A n.6276C>A | gnomAD v4 |
11 | g.77211311C= | CA1984129907 | MYO7A | c.6211C= (p.Gln2071=) c.4012C= c.6064C= (p.Gln2022=) c.3637C= (p.Gln1213=) c.6097C= (p.Gln2033=) n.3747C= n.25+400C= n.1678C= c.6094C= (p.Gln2032=) c.6202C= (p.Gln2068=) c.6205C= (p.Gln2069=) c.6178C= (p.Gln2060=) c.6115C= (p.Gln2039=) c.5986C= (p.Gln1996=) c.5974C= (p.Gln1992=) c.5947C= (p.Gln1983=) n.6531C= n.6505C= c.6301C= (p.Gln2101=) c.6295C= (p.Gln2099=) c.6292C= (p.Gln2098=) c.6187C= (p.Gln2063=) c.6184C= (p.Gln2062=) n.6290C= n.6276C= | |
11 | g.77211311C>G | CA381936239 | MYO7A | c.6211C>G (p.Gln2071Glu) c.4012C>G c.6064C>G (p.Gln2022Glu) c.3637C>G (p.Gln1213Glu) c.6097C>G (p.Gln2033Glu) n.3747C>G n.25+400C>G n.1678C>G c.6094C>G (p.Gln2032Glu) c.6202C>G (p.Gln2068Glu) c.6205C>G (p.Gln2069Glu) c.6178C>G (p.Gln2060Glu) c.6115C>G (p.Gln2039Glu) c.5986C>G (p.Gln1996Glu) c.5974C>G (p.Gln1992Glu) c.5947C>G (p.Gln1983Glu) n.6531C>G n.6505C>G c.6301C>G (p.Gln2101Glu) c.6295C>G (p.Gln2099Glu) c.6292C>G (p.Gln2098Glu) c.6187C>G (p.Gln2063Glu) c.6184C>G (p.Gln2062Glu) n.6290C>G n.6276C>G | gnomAD v4 |
11 | g.77211311C>T | CA16609578 | MYO7A | c.6211C>T (p.Gln2071Ter) c.4012C>T c.6064C>T (p.Gln2022Ter) c.3637C>T (p.Gln1213Ter) c.6097C>T (p.Gln2033Ter) n.3747C>T n.25+400C>T n.1678C>T c.6094C>T (p.Gln2032Ter) c.6202C>T (p.Gln2068Ter) c.6205C>T (p.Gln2069Ter) c.6178C>T (p.Gln2060Ter) c.6115C>T (p.Gln2039Ter) c.5986C>T (p.Gln1996Ter) c.5974C>T (p.Gln1992Ter) c.5947C>T (p.Gln1983Ter) n.6531C>T n.6505C>T c.6301C>T (p.Gln2101Ter) c.6295C>T (p.Gln2099Ter) c.6292C>T (p.Gln2098Ter) c.6187C>T (p.Gln2063Ter) c.6184C>T (p.Gln2062Ter) n.6290C>T n.6276C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77211312A>C | CA381936243 | MYO7A | c.6212A>C (p.Gln2071Pro) c.4013A>C c.6065A>C (p.Gln2022Pro) c.3638A>C (p.Gln1213Pro) c.6098A>C (p.Gln2033Pro) n.3748A>C n.25+401A>C n.1679A>C c.6095A>C (p.Gln2032Pro) c.6203A>C (p.Gln2068Pro) c.6206A>C (p.Gln2069Pro) c.6179A>C (p.Gln2060Pro) c.6116A>C (p.Gln2039Pro) c.5987A>C (p.Gln1996Pro) c.5975A>C (p.Gln1992Pro) c.5948A>C (p.Gln1983Pro) n.6532A>C n.6506A>C c.6302A>C (p.Gln2101Pro) c.6296A>C (p.Gln2099Pro) c.6293A>C (p.Gln2098Pro) c.6188A>C (p.Gln2063Pro) c.6185A>C (p.Gln2062Pro) n.6291A>C n.6277A>C | |
11 | g.77211312A>G | CA381936245 | MYO7A | c.6212A>G (p.Gln2071Arg) c.4013A>G c.6065A>G (p.Gln2022Arg) c.3638A>G (p.Gln1213Arg) c.6098A>G (p.Gln2033Arg) n.3748A>G n.25+401A>G n.1679A>G c.6095A>G (p.Gln2032Arg) c.6203A>G (p.Gln2068Arg) c.6206A>G (p.Gln2069Arg) c.6179A>G (p.Gln2060Arg) c.6116A>G (p.Gln2039Arg) c.5987A>G (p.Gln1996Arg) c.5975A>G (p.Gln1992Arg) c.5948A>G (p.Gln1983Arg) n.6532A>G n.6506A>G c.6302A>G (p.Gln2101Arg) c.6296A>G (p.Gln2099Arg) c.6293A>G (p.Gln2098Arg) c.6188A>G (p.Gln2063Arg) c.6185A>G (p.Gln2062Arg) n.6291A>G n.6277A>G | |
11 | g.77211312A>T | CA381936247 | MYO7A | c.6212A>T (p.Gln2071Leu) c.4013A>T c.6065A>T (p.Gln2022Leu) c.3638A>T (p.Gln1213Leu) c.6098A>T (p.Gln2033Leu) n.3748A>T n.25+401A>T n.1679A>T c.6095A>T (p.Gln2032Leu) c.6203A>T (p.Gln2068Leu) c.6206A>T (p.Gln2069Leu) c.6179A>T (p.Gln2060Leu) c.6116A>T (p.Gln2039Leu) c.5987A>T (p.Gln1996Leu) c.5975A>T (p.Gln1992Leu) c.5948A>T (p.Gln1983Leu) n.6532A>T n.6506A>T c.6302A>T (p.Gln2101Leu) c.6296A>T (p.Gln2099Leu) c.6293A>T (p.Gln2098Leu) c.6188A>T (p.Gln2063Leu) c.6185A>T (p.Gln2062Leu) n.6291A>T n.6277A>T | |
11 | g.77211313G>A | CA475792055 | MYO7A | c.6213G>A (p.Gln2071=) c.4014G>A c.6066G>A (p.Gln2022=) c.3639G>A (p.Gln1213=) c.6099G>A (p.Gln2033=) n.3749G>A n.25+402G>A n.1680G>A c.6096G>A (p.Gln2032=) c.6204G>A (p.Gln2068=) c.6207G>A (p.Gln2069=) c.6180G>A (p.Gln2060=) c.6117G>A (p.Gln2039=) c.5988G>A (p.Gln1996=) c.5976G>A (p.Gln1992=) c.5949G>A (p.Gln1983=) n.6533G>A n.6507G>A c.6303G>A (p.Gln2101=) c.6297G>A (p.Gln2099=) c.6294G>A (p.Gln2098=) c.6189G>A (p.Gln2063=) c.6186G>A (p.Gln2062=) n.6292G>A n.6278G>A | gnomAD v4 |
11 | g.77211313G>C | CA381936250 | MYO7A | c.6213G>C (p.Gln2071His) c.4014G>C c.6066G>C (p.Gln2022His) c.3639G>C (p.Gln1213His) c.6099G>C (p.Gln2033His) n.3749G>C n.25+402G>C n.1680G>C c.6096G>C (p.Gln2032His) c.6204G>C (p.Gln2068His) c.6207G>C (p.Gln2069His) c.6180G>C (p.Gln2060His) c.6117G>C (p.Gln2039His) c.5988G>C (p.Gln1996His) c.5976G>C (p.Gln1992His) c.5949G>C (p.Gln1983His) n.6533G>C n.6507G>C c.6303G>C (p.Gln2101His) c.6297G>C (p.Gln2099His) c.6294G>C (p.Gln2098His) c.6189G>C (p.Gln2063His) c.6186G>C (p.Gln2062His) n.6292G>C n.6278G>C | |
11 | g.77211313G>T | CA381936252 | MYO7A | c.6213G>T (p.Gln2071His) c.4014G>T c.6066G>T (p.Gln2022His) c.3639G>T (p.Gln1213His) c.6099G>T (p.Gln2033His) n.3749G>T n.25+402G>T n.1680G>T c.6096G>T (p.Gln2032His) c.6204G>T (p.Gln2068His) c.6207G>T (p.Gln2069His) c.6180G>T (p.Gln2060His) c.6117G>T (p.Gln2039His) c.5988G>T (p.Gln1996His) c.5976G>T (p.Gln1992His) c.5949G>T (p.Gln1983His) n.6533G>T n.6507G>T c.6303G>T (p.Gln2101His) c.6297G>T (p.Gln2099His) c.6294G>T (p.Gln2098His) c.6189G>T (p.Gln2063His) c.6186G>T (p.Gln2062His) n.6292G>T n.6278G>T | |
11 | g.77211314G>A | CA132426 | MYO7A | c.6214G>A (p.Val2072Ile) c.4015G>A c.6067G>A (p.Val2023Ile) c.3640G>A (p.Val1214Ile) c.6100G>A (p.Val2034Ile) n.3750G>A n.25+403G>A n.1681G>A c.6097G>A (p.Val2033Ile) c.6205G>A (p.Val2069Ile) c.6208G>A (p.Val2070Ile) c.6181G>A (p.Val2061Ile) c.6118G>A (p.Val2040Ile) c.5989G>A (p.Val1997Ile) c.5977G>A (p.Val1993Ile) c.5950G>A (p.Val1984Ile) n.6534G>A n.6508G>A c.6304G>A (p.Val2102Ile) c.6298G>A (p.Val2100Ile) c.6295G>A (p.Val2099Ile) c.6190G>A (p.Val2064Ile) c.6187G>A (p.Val2063Ile) n.6293G>A n.6279G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77211314G>C | CA381936255 | MYO7A | c.6214G>C (p.Val2072Leu) c.4015G>C c.6067G>C (p.Val2023Leu) c.3640G>C (p.Val1214Leu) c.6100G>C (p.Val2034Leu) n.3750G>C n.25+403G>C n.1681G>C c.6097G>C (p.Val2033Leu) c.6205G>C (p.Val2069Leu) c.6208G>C (p.Val2070Leu) c.6181G>C (p.Val2061Leu) c.6118G>C (p.Val2040Leu) c.5989G>C (p.Val1997Leu) c.5977G>C (p.Val1993Leu) c.5950G>C (p.Val1984Leu) n.6534G>C n.6508G>C c.6304G>C (p.Val2102Leu) c.6298G>C (p.Val2100Leu) c.6295G>C (p.Val2099Leu) c.6190G>C (p.Val2064Leu) c.6187G>C (p.Val2063Leu) n.6293G>C n.6279G>C | |
11 | g.77211314G= | CA1984129908 | MYO7A | c.6214G= (p.Val2072=) c.4015G= c.6067G= (p.Val2023=) c.3640G= (p.Val1214=) c.6100G= (p.Val2034=) n.3750G= n.25+403G= n.1681G= c.6097G= (p.Val2033=) c.6205G= (p.Val2069=) c.6208G= (p.Val2070=) c.6181G= (p.Val2061=) c.6118G= (p.Val2040=) c.5989G= (p.Val1997=) c.5977G= (p.Val1993=) c.5950G= (p.Val1984=) n.6534G= n.6508G= c.6304G= (p.Val2102=) c.6298G= (p.Val2100=) c.6295G= (p.Val2099=) c.6190G= (p.Val2064=) c.6187G= (p.Val2063=) n.6293G= n.6279G= | |
11 | g.77211314G>T | CA381936254 | MYO7A | c.6214G>T (p.Val2072Phe) c.4015G>T c.6067G>T (p.Val2023Phe) c.3640G>T (p.Val1214Phe) c.6100G>T (p.Val2034Phe) n.3750G>T n.25+403G>T n.1681G>T c.6097G>T (p.Val2033Phe) c.6205G>T (p.Val2069Phe) c.6208G>T (p.Val2070Phe) c.6181G>T (p.Val2061Phe) c.6118G>T (p.Val2040Phe) c.5989G>T (p.Val1997Phe) c.5977G>T (p.Val1993Phe) c.5950G>T (p.Val1984Phe) n.6534G>T n.6508G>T c.6304G>T (p.Val2102Phe) c.6298G>T (p.Val2100Phe) c.6295G>T (p.Val2099Phe) c.6190G>T (p.Val2064Phe) c.6187G>T (p.Val2063Phe) n.6293G>T n.6279G>T | dbSNP gnomAD v4 |
11 | g.77211315T>A | CA381936259 | MYO7A | c.6215T>A (p.Val2072Asp) c.4016T>A c.6068T>A (p.Val2023Asp) c.3641T>A (p.Val1214Asp) c.6101T>A (p.Val2034Asp) n.3751T>A n.25+404T>A n.1682T>A c.6098T>A (p.Val2033Asp) c.6206T>A (p.Val2069Asp) c.6209T>A (p.Val2070Asp) c.6182T>A (p.Val2061Asp) c.6119T>A (p.Val2040Asp) c.5990T>A (p.Val1997Asp) c.5978T>A (p.Val1993Asp) c.5951T>A (p.Val1984Asp) n.6535T>A n.6509T>A c.6305T>A (p.Val2102Asp) c.6299T>A (p.Val2100Asp) c.6296T>A (p.Val2099Asp) c.6191T>A (p.Val2064Asp) c.6188T>A (p.Val2063Asp) n.6294T>A n.6280T>A | |
11 | g.77211315T>C | CA381936260 | MYO7A | c.6215T>C (p.Val2072Ala) c.4016T>C c.6068T>C (p.Val2023Ala) c.3641T>C (p.Val1214Ala) c.6101T>C (p.Val2034Ala) n.3751T>C n.25+404T>C n.1682T>C c.6098T>C (p.Val2033Ala) c.6206T>C (p.Val2069Ala) c.6209T>C (p.Val2070Ala) c.6182T>C (p.Val2061Ala) c.6119T>C (p.Val2040Ala) c.5990T>C (p.Val1997Ala) c.5978T>C (p.Val1993Ala) c.5951T>C (p.Val1984Ala) n.6535T>C n.6509T>C c.6305T>C (p.Val2102Ala) c.6299T>C (p.Val2100Ala) c.6296T>C (p.Val2099Ala) c.6191T>C (p.Val2064Ala) c.6188T>C (p.Val2063Ala) n.6294T>C n.6280T>C | |
11 | g.77211315T>G | CA381936263 | MYO7A | c.6215T>G (p.Val2072Gly) c.4016T>G c.6068T>G (p.Val2023Gly) c.3641T>G (p.Val1214Gly) c.6101T>G (p.Val2034Gly) n.3751T>G n.25+404T>G n.1682T>G c.6098T>G (p.Val2033Gly) c.6206T>G (p.Val2069Gly) c.6209T>G (p.Val2070Gly) c.6182T>G (p.Val2061Gly) c.6119T>G (p.Val2040Gly) c.5990T>G (p.Val1997Gly) c.5978T>G (p.Val1993Gly) c.5951T>G (p.Val1984Gly) n.6535T>G n.6509T>G c.6305T>G (p.Val2102Gly) c.6299T>G (p.Val2100Gly) c.6296T>G (p.Val2099Gly) c.6191T>G (p.Val2064Gly) c.6188T>G (p.Val2063Gly) n.6294T>G n.6280T>G | dbSNP |
11 | g.77211315T= | CA1984129909 | MYO7A | c.6215T= (p.Val2072=) c.4016T= c.6068T= (p.Val2023=) c.3641T= (p.Val1214=) c.6101T= (p.Val2034=) n.3751T= n.25+404T= n.1682T= c.6098T= (p.Val2033=) c.6206T= (p.Val2069=) c.6209T= (p.Val2070=) c.6182T= (p.Val2061=) c.6119T= (p.Val2040=) c.5990T= (p.Val1997=) c.5978T= (p.Val1993=) c.5951T= (p.Val1984=) n.6535T= n.6509T= c.6305T= (p.Val2102=) c.6299T= (p.Val2100=) c.6296T= (p.Val2099=) c.6191T= (p.Val2064=) c.6188T= (p.Val2063=) n.6294T= n.6280T= | |
11 | g.77211316C>A | CA475792061 | MYO7A | c.6216C>A (p.Val2072=) c.4017C>A c.6069C>A (p.Val2023=) c.3642C>A (p.Val1214=) c.6102C>A (p.Val2034=) n.3752C>A n.25+405C>A n.1683C>A c.6099C>A (p.Val2033=) c.6207C>A (p.Val2069=) c.6210C>A (p.Val2070=) c.6183C>A (p.Val2061=) c.6120C>A (p.Val2040=) c.5991C>A (p.Val1997=) c.5979C>A (p.Val1993=) c.5952C>A (p.Val1984=) n.6536C>A n.6510C>A c.6306C>A (p.Val2102=) c.6300C>A (p.Val2100=) c.6297C>A (p.Val2099=) c.6192C>A (p.Val2064=) c.6189C>A (p.Val2063=) n.6295C>A n.6281C>A | gnomAD v4 |
11 | g.77211316C= | CA1984129910 | MYO7A | c.6216C= (p.Val2072=) c.4017C= c.6069C= (p.Val2023=) c.3642C= (p.Val1214=) c.6102C= (p.Val2034=) n.3752C= n.25+405C= n.1683C= c.6099C= (p.Val2033=) c.6207C= (p.Val2069=) c.6210C= (p.Val2070=) c.6183C= (p.Val2061=) c.6120C= (p.Val2040=) c.5991C= (p.Val1997=) c.5979C= (p.Val1993=) c.5952C= (p.Val1984=) n.6536C= n.6510C= c.6306C= (p.Val2102=) c.6300C= (p.Val2100=) c.6297C= (p.Val2099=) c.6192C= (p.Val2064=) c.6189C= (p.Val2063=) n.6295C= n.6281C= | |
11 | g.77211316C>G | CA475792060 | MYO7A | c.6216C>G (p.Val2072=) c.4017C>G c.6069C>G (p.Val2023=) c.3642C>G (p.Val1214=) c.6102C>G (p.Val2034=) n.3752C>G n.25+405C>G n.1683C>G c.6099C>G (p.Val2033=) c.6207C>G (p.Val2069=) c.6210C>G (p.Val2070=) c.6183C>G (p.Val2061=) c.6120C>G (p.Val2040=) c.5991C>G (p.Val1997=) c.5979C>G (p.Val1993=) c.5952C>G (p.Val1984=) n.6536C>G n.6510C>G c.6306C>G (p.Val2102=) c.6300C>G (p.Val2100=) c.6297C>G (p.Val2099=) c.6192C>G (p.Val2064=) c.6189C>G (p.Val2063=) n.6295C>G n.6281C>G | |
11 | g.77211316C>T | CA475792059 | MYO7A | c.6216C>T (p.Val2072=) c.4017C>T c.6069C>T (p.Val2023=) c.3642C>T (p.Val1214=) c.6102C>T (p.Val2034=) n.3752C>T n.25+405C>T n.1683C>T c.6099C>T (p.Val2033=) c.6207C>T (p.Val2069=) c.6210C>T (p.Val2070=) c.6183C>T (p.Val2061=) c.6120C>T (p.Val2040=) c.5991C>T (p.Val1997=) c.5979C>T (p.Val1993=) c.5952C>T (p.Val1984=) n.6536C>T n.6510C>T c.6306C>T (p.Val2102=) c.6300C>T (p.Val2100=) c.6297C>T (p.Val2099=) c.6192C>T (p.Val2064=) c.6189C>T (p.Val2063=) n.6295C>T n.6281C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77211317T>A | CA381936267 | MYO7A | c.6217T>A (p.Ser2073Thr) c.4018T>A c.6070T>A (p.Ser2024Thr) c.3643T>A (p.Ser1215Thr) c.6103T>A (p.Ser2035Thr) n.3753T>A n.25+406T>A n.1684T>A c.6100T>A (p.Ser2034Thr) c.6208T>A (p.Ser2070Thr) c.6211T>A (p.Ser2071Thr) c.6184T>A (p.Ser2062Thr) c.6121T>A (p.Ser2041Thr) c.5992T>A (p.Ser1998Thr) c.5980T>A (p.Ser1994Thr) c.5953T>A (p.Ser1985Thr) n.6537T>A n.6511T>A c.6307T>A (p.Ser2103Thr) c.6301T>A (p.Ser2101Thr) c.6298T>A (p.Ser2100Thr) c.6193T>A (p.Ser2065Thr) c.6190T>A (p.Ser2064Thr) n.6296T>A n.6282T>A | |
11 | g.77211317T>C | CA381936269 | MYO7A | c.6217T>C (p.Ser2073Pro) c.4018T>C c.6070T>C (p.Ser2024Pro) c.3643T>C (p.Ser1215Pro) c.6103T>C (p.Ser2035Pro) n.3753T>C n.25+406T>C n.1684T>C c.6100T>C (p.Ser2034Pro) c.6208T>C (p.Ser2070Pro) c.6211T>C (p.Ser2071Pro) c.6184T>C (p.Ser2062Pro) c.6121T>C (p.Ser2041Pro) c.5992T>C (p.Ser1998Pro) c.5980T>C (p.Ser1994Pro) c.5953T>C (p.Ser1985Pro) n.6537T>C n.6511T>C c.6307T>C (p.Ser2103Pro) c.6301T>C (p.Ser2101Pro) c.6298T>C (p.Ser2100Pro) c.6193T>C (p.Ser2065Pro) c.6190T>C (p.Ser2064Pro) n.6296T>C n.6282T>C | gnomAD v4 |
11 | g.77211317T>G | CA381936271 | MYO7A | c.6217T>G (p.Ser2073Ala) c.4018T>G c.6070T>G (p.Ser2024Ala) c.3643T>G (p.Ser1215Ala) c.6103T>G (p.Ser2035Ala) n.3753T>G n.25+406T>G n.1684T>G c.6100T>G (p.Ser2034Ala) c.6208T>G (p.Ser2070Ala) c.6211T>G (p.Ser2071Ala) c.6184T>G (p.Ser2062Ala) c.6121T>G (p.Ser2041Ala) c.5992T>G (p.Ser1998Ala) c.5980T>G (p.Ser1994Ala) c.5953T>G (p.Ser1985Ala) n.6537T>G n.6511T>G c.6307T>G (p.Ser2103Ala) c.6301T>G (p.Ser2101Ala) c.6298T>G (p.Ser2100Ala) c.6193T>G (p.Ser2065Ala) c.6190T>G (p.Ser2064Ala) n.6296T>G n.6282T>G | |
11 | g.77211318C>A | CA381936274 | MYO7A | c.6218C>A (p.Ser2073Ter) c.4019C>A c.6071C>A (p.Ser2024Ter) c.3644C>A (p.Ser1215Ter) c.6104C>A (p.Ser2035Ter) n.3754C>A n.25+407C>A n.1685C>A c.6101C>A (p.Ser2034Ter) c.6209C>A (p.Ser2070Ter) c.6212C>A (p.Ser2071Ter) c.6185C>A (p.Ser2062Ter) c.6122C>A (p.Ser2041Ter) c.5993C>A (p.Ser1998Ter) c.5981C>A (p.Ser1994Ter) c.5954C>A (p.Ser1985Ter) n.6538C>A n.6512C>A c.6308C>A (p.Ser2103Ter) c.6302C>A (p.Ser2101Ter) c.6299C>A (p.Ser2100Ter) c.6194C>A (p.Ser2065Ter) c.6191C>A (p.Ser2064Ter) n.6297C>A n.6283C>A | gnomAD v4 |
11 | g.77211318C= | CA1984129911 | MYO7A | c.6218C= (p.Ser2073=) c.4019C= c.6071C= (p.Ser2024=) c.3644C= (p.Ser1215=) c.6104C= (p.Ser2035=) n.3754C= n.25+407C= n.1685C= c.6101C= (p.Ser2034=) c.6209C= (p.Ser2070=) c.6212C= (p.Ser2071=) c.6185C= (p.Ser2062=) c.6122C= (p.Ser2041=) c.5993C= (p.Ser1998=) c.5981C= (p.Ser1994=) c.5954C= (p.Ser1985=) n.6538C= n.6512C= c.6308C= (p.Ser2103=) c.6302C= (p.Ser2101=) c.6299C= (p.Ser2100=) c.6194C= (p.Ser2065=) c.6191C= (p.Ser2064=) n.6297C= n.6283C= | |
11 | g.77211318C>G | CA381936276 | MYO7A | c.6218C>G (p.Ser2073Ter) c.4019C>G c.6071C>G (p.Ser2024Ter) c.3644C>G (p.Ser1215Ter) c.6104C>G (p.Ser2035Ter) n.3754C>G n.25+407C>G n.1685C>G c.6101C>G (p.Ser2034Ter) c.6209C>G (p.Ser2070Ter) c.6212C>G (p.Ser2071Ter) c.6185C>G (p.Ser2062Ter) c.6122C>G (p.Ser2041Ter) c.5993C>G (p.Ser1998Ter) c.5981C>G (p.Ser1994Ter) c.5954C>G (p.Ser1985Ter) n.6538C>G n.6512C>G c.6308C>G (p.Ser2103Ter) c.6302C>G (p.Ser2101Ter) c.6299C>G (p.Ser2100Ter) c.6194C>G (p.Ser2065Ter) c.6191C>G (p.Ser2064Ter) n.6297C>G n.6283C>G | gnomAD v4 |
11 | g.77211318C>T | CA381936278 | MYO7A | c.6218C>T (p.Ser2073Leu) c.4019C>T c.6071C>T (p.Ser2024Leu) c.3644C>T (p.Ser1215Leu) c.6104C>T (p.Ser2035Leu) n.3754C>T n.25+407C>T n.1685C>T c.6101C>T (p.Ser2034Leu) c.6209C>T (p.Ser2070Leu) c.6212C>T (p.Ser2071Leu) c.6185C>T (p.Ser2062Leu) c.6122C>T (p.Ser2041Leu) c.5993C>T (p.Ser1998Leu) c.5981C>T (p.Ser1994Leu) c.5954C>T (p.Ser1985Leu) n.6538C>T n.6512C>T c.6308C>T (p.Ser2103Leu) c.6302C>T (p.Ser2101Leu) c.6299C>T (p.Ser2100Leu) c.6194C>T (p.Ser2065Leu) c.6191C>T (p.Ser2064Leu) n.6297C>T n.6283C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77211319A>C | CA475792063 | MYO7A | c.6219A>C (p.Ser2073=) c.4020A>C c.6072A>C (p.Ser2024=) c.3645A>C (p.Ser1215=) c.6105A>C (p.Ser2035=) n.3755A>C n.25+408A>C n.1686A>C c.6102A>C (p.Ser2034=) c.6210A>C (p.Ser2070=) c.6213A>C (p.Ser2071=) c.6186A>C (p.Ser2062=) c.6123A>C (p.Ser2041=) c.5994A>C (p.Ser1998=) c.5982A>C (p.Ser1994=) c.5955A>C (p.Ser1985=) n.6539A>C n.6513A>C c.6309A>C (p.Ser2103=) c.6303A>C (p.Ser2101=) c.6300A>C (p.Ser2100=) c.6195A>C (p.Ser2065=) c.6192A>C (p.Ser2064=) n.6298A>C n.6284A>C | gnomAD v4 |
11 | g.77211319A>G | CA475792064 | MYO7A | c.6219A>G (p.Ser2073=) c.4020A>G c.6072A>G (p.Ser2024=) c.3645A>G (p.Ser1215=) c.6105A>G (p.Ser2035=) n.3755A>G n.25+408A>G n.1686A>G c.6102A>G (p.Ser2034=) c.6210A>G (p.Ser2070=) c.6213A>G (p.Ser2071=) c.6186A>G (p.Ser2062=) c.6123A>G (p.Ser2041=) c.5994A>G (p.Ser1998=) c.5982A>G (p.Ser1994=) c.5955A>G (p.Ser1985=) n.6539A>G n.6513A>G c.6309A>G (p.Ser2103=) c.6303A>G (p.Ser2101=) c.6300A>G (p.Ser2100=) c.6195A>G (p.Ser2065=) c.6192A>G (p.Ser2064=) n.6298A>G n.6284A>G | ClinVar gnomAD v4 |
11 | g.77211319A>T | CA475792065 | MYO7A | c.6219A>T (p.Ser2073=) c.4020A>T c.6072A>T (p.Ser2024=) c.3645A>T (p.Ser1215=) c.6105A>T (p.Ser2035=) n.3755A>T n.25+408A>T n.1686A>T c.6102A>T (p.Ser2034=) c.6210A>T (p.Ser2070=) c.6213A>T (p.Ser2071=) c.6186A>T (p.Ser2062=) c.6123A>T (p.Ser2041=) c.5994A>T (p.Ser1998=) c.5982A>T (p.Ser1994=) c.5955A>T (p.Ser1985=) n.6539A>T n.6513A>T c.6309A>T (p.Ser2103=) c.6303A>T (p.Ser2101=) c.6300A>T (p.Ser2100=) c.6195A>T (p.Ser2065=) c.6192A>T (p.Ser2064=) n.6298A>T n.6284A>T | ClinVar dbSNP gnomAD v4 |
11 | g.77211320C>A | CA381936281 | MYO7A | c.6220C>A (p.Pro2074Thr) c.4021C>A c.6073C>A (p.Pro2025Thr) c.3646C>A (p.Pro1216Thr) c.6106C>A (p.Pro2036Thr) n.3756C>A n.25+409C>A n.1687C>A c.6103C>A (p.Pro2035Thr) c.6211C>A (p.Pro2071Thr) c.6214C>A (p.Pro2072Thr) c.6187C>A (p.Pro2063Thr) c.6124C>A (p.Pro2042Thr) c.5995C>A (p.Pro1999Thr) c.5983C>A (p.Pro1995Thr) c.5956C>A (p.Pro1986Thr) n.6540C>A n.6514C>A c.6310C>A (p.Pro2104Thr) c.6304C>A (p.Pro2102Thr) c.6301C>A (p.Pro2101Thr) c.6196C>A (p.Pro2066Thr) c.6193C>A (p.Pro2065Thr) n.6299C>A n.6285C>A | gnomAD v4 |
11 | g.77211320C= | CA1984129912 | MYO7A | c.6220C= (p.Pro2074=) c.4021C= c.6073C= (p.Pro2025=) c.3646C= (p.Pro1216=) c.6106C= (p.Pro2036=) n.3756C= n.25+409C= n.1687C= c.6103C= (p.Pro2035=) c.6211C= (p.Pro2071=) c.6214C= (p.Pro2072=) c.6187C= (p.Pro2063=) c.6124C= (p.Pro2042=) c.5995C= (p.Pro1999=) c.5983C= (p.Pro1995=) c.5956C= (p.Pro1986=) n.6540C= n.6514C= c.6310C= (p.Pro2104=) c.6304C= (p.Pro2102=) c.6301C= (p.Pro2101=) c.6196C= (p.Pro2066=) c.6193C= (p.Pro2065=) n.6299C= n.6285C= | |
11 | g.77211320C>G | CA381936283 | MYO7A | c.6220C>G (p.Pro2074Ala) c.4021C>G c.6073C>G (p.Pro2025Ala) c.3646C>G (p.Pro1216Ala) c.6106C>G (p.Pro2036Ala) n.3756C>G n.25+409C>G n.1687C>G c.6103C>G (p.Pro2035Ala) c.6211C>G (p.Pro2071Ala) c.6214C>G (p.Pro2072Ala) c.6187C>G (p.Pro2063Ala) c.6124C>G (p.Pro2042Ala) c.5995C>G (p.Pro1999Ala) c.5983C>G (p.Pro1995Ala) c.5956C>G (p.Pro1986Ala) n.6540C>G n.6514C>G c.6310C>G (p.Pro2104Ala) c.6304C>G (p.Pro2102Ala) c.6301C>G (p.Pro2101Ala) c.6196C>G (p.Pro2066Ala) c.6193C>G (p.Pro2065Ala) n.6299C>G n.6285C>G | |
11 | g.77211320C>T | CA6198952 | MYO7A | c.6220C>T (p.Pro2074Ser) c.4021C>T c.6073C>T (p.Pro2025Ser) c.3646C>T (p.Pro1216Ser) c.6106C>T (p.Pro2036Ser) n.3756C>T n.25+409C>T n.1687C>T c.6103C>T (p.Pro2035Ser) c.6211C>T (p.Pro2071Ser) c.6214C>T (p.Pro2072Ser) c.6187C>T (p.Pro2063Ser) c.6124C>T (p.Pro2042Ser) c.5995C>T (p.Pro1999Ser) c.5983C>T (p.Pro1995Ser) c.5956C>T (p.Pro1986Ser) n.6540C>T n.6514C>T c.6310C>T (p.Pro2104Ser) c.6304C>T (p.Pro2102Ser) c.6301C>T (p.Pro2101Ser) c.6196C>T (p.Pro2066Ser) c.6193C>T (p.Pro2065Ser) n.6299C>T n.6285C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77211321C>A | CA381936289 | MYO7A | c.6221C>A (p.Pro2074His) c.4022C>A c.6074C>A (p.Pro2025His) c.3647C>A (p.Pro1216His) c.6107C>A (p.Pro2036His) n.3757C>A n.25+410C>A n.1688C>A c.6104C>A (p.Pro2035His) c.6212C>A (p.Pro2071His) c.6215C>A (p.Pro2072His) c.6188C>A (p.Pro2063His) c.6125C>A (p.Pro2042His) c.5996C>A (p.Pro1999His) c.5984C>A (p.Pro1995His) c.5957C>A (p.Pro1986His) n.6541C>A n.6515C>A c.6311C>A (p.Pro2104His) c.6305C>A (p.Pro2102His) c.6302C>A (p.Pro2101His) c.6197C>A (p.Pro2066His) c.6194C>A (p.Pro2065His) n.6300C>A n.6286C>A | ClinVar gnomAD v4 COSMIC |
11 | g.77211321C= | CA1984129913 | MYO7A | c.6221C= (p.Pro2074=) c.4022C= c.6074C= (p.Pro2025=) c.3647C= (p.Pro1216=) c.6107C= (p.Pro2036=) n.3757C= n.25+410C= n.1688C= c.6104C= (p.Pro2035=) c.6212C= (p.Pro2071=) c.6215C= (p.Pro2072=) c.6188C= (p.Pro2063=) c.6125C= (p.Pro2042=) c.5996C= (p.Pro1999=) c.5984C= (p.Pro1995=) c.5957C= (p.Pro1986=) n.6541C= n.6515C= c.6311C= (p.Pro2104=) c.6305C= (p.Pro2102=) c.6302C= (p.Pro2101=) c.6197C= (p.Pro2066=) c.6194C= (p.Pro2065=) n.6300C= n.6286C= | |
11 | g.77211321C>G | CA6198953 | MYO7A | c.6221C>G (p.Pro2074Arg) c.4022C>G c.6074C>G (p.Pro2025Arg) c.3647C>G (p.Pro1216Arg) c.6107C>G (p.Pro2036Arg) n.3757C>G n.25+410C>G n.1688C>G c.6104C>G (p.Pro2035Arg) c.6212C>G (p.Pro2071Arg) c.6215C>G (p.Pro2072Arg) c.6188C>G (p.Pro2063Arg) c.6125C>G (p.Pro2042Arg) c.5996C>G (p.Pro1999Arg) c.5984C>G (p.Pro1995Arg) c.5957C>G (p.Pro1986Arg) n.6541C>G n.6515C>G c.6311C>G (p.Pro2104Arg) c.6305C>G (p.Pro2102Arg) c.6302C>G (p.Pro2101Arg) c.6197C>G (p.Pro2066Arg) c.6194C>G (p.Pro2065Arg) n.6300C>G n.6286C>G | dbSNP ExAC gnomAD v2 |
11 | g.77211321C>T | CA381936287 | MYO7A | c.6221C>T (p.Pro2074Leu) c.4022C>T c.6074C>T (p.Pro2025Leu) c.3647C>T (p.Pro1216Leu) c.6107C>T (p.Pro2036Leu) n.3757C>T n.25+410C>T n.1688C>T c.6104C>T (p.Pro2035Leu) c.6212C>T (p.Pro2071Leu) c.6215C>T (p.Pro2072Leu) c.6188C>T (p.Pro2063Leu) c.6125C>T (p.Pro2042Leu) c.5996C>T (p.Pro1999Leu) c.5984C>T (p.Pro1995Leu) c.5957C>T (p.Pro1986Leu) n.6541C>T n.6515C>T c.6311C>T (p.Pro2104Leu) c.6305C>T (p.Pro2102Leu) c.6302C>T (p.Pro2101Leu) c.6197C>T (p.Pro2066Leu) c.6194C>T (p.Pro2065Leu) n.6300C>T n.6286C>T | dbSNP gnomAD v4 |
11 | g.77211321_77211322insCGCTTCCAGTCATCAGG | CA2842899100 | MYO7A | c.6221_6222insCGCTTCCAGTCATCAGG (p.Asp2075AlafsTer33) c.4022_4023insCGCTTCCAGTCATCAGG c.6074_6075insCGCTTCCAGTCATCAGG (p.Asp2026AlafsTer33) c.3647_3648insCGCTTCCAGTCATCAGG (p.Asp1217AlafsTer33) c.6107_6108insCGCTTCCAGTCATCAGG (p.Asp2037AlafsTer33) n.3757_3758insCGCTTCCAGTCATCAGG n.25+410_25+411insCGCTTCCAGTCATCAGG n.1688_1689insCGCTTCCAGTCATCAGG c.6104_6105insCGCTTCCAGTCATCAGG (p.Asp2036AlafsTer33) c.6212_6213insCGCTTCCAGTCATCAGG (p.Asp2072AlafsTer33) c.6215_6216insCGCTTCCAGTCATCAGG (p.Asp2073AlafsTer33) c.6188_6189insCGCTTCCAGTCATCAGG (p.Asp2064AlafsTer33) c.6125_6126insCGCTTCCAGTCATCAGG (p.Asp2043AlafsTer33) c.5996_5997insCGCTTCCAGTCATCAGG (p.Asp2000AlafsTer33) c.5984_5985insCGCTTCCAGTCATCAGG (p.Asp1996AlafsTer33) c.5957_5958insCGCTTCCAGTCATCAGG (p.Asp1987AlafsTer33) n.6541_6542insCGCTTCCAGTCATCAGG n.6515_6516insCGCTTCCAGTCATCAGG c.6311_6312insCGCTTCCAGTCATCAGG (p.Asp2105AlafsTer33) c.6305_6306insCGCTTCCAGTCATCAGG (p.Asp2103AlafsTer33) c.6302_6303insCGCTTCCAGTCATCAGG (p.Asp2102AlafsTer33) c.6197_6198insCGCTTCCAGTCATCAGG (p.Asp2067AlafsTer33) c.6194_6195insCGCTTCCAGTCATCAGG (p.Asp2066AlafsTer33) n.6300_6301insCGCTTCCAGTCATCAGG n.6286_6287insCGCTTCCAGTCATCAGG | |
11 | g.77211322T>A | CA475792066 | MYO7A | c.6222T>A (p.Pro2074=) c.4023T>A c.6075T>A (p.Pro2025=) c.3648T>A (p.Pro1216=) c.6108T>A (p.Pro2036=) n.3758T>A n.25+411T>A n.1689T>A c.6105T>A (p.Pro2035=) c.6213T>A (p.Pro2071=) c.6216T>A (p.Pro2072=) c.6189T>A (p.Pro2063=) c.6126T>A (p.Pro2042=) c.5997T>A (p.Pro1999=) c.5985T>A (p.Pro1995=) c.5958T>A (p.Pro1986=) n.6542T>A n.6516T>A c.6312T>A (p.Pro2104=) c.6306T>A (p.Pro2102=) c.6303T>A (p.Pro2101=) c.6198T>A (p.Pro2066=) c.6195T>A (p.Pro2065=) n.6301T>A n.6287T>A | |
11 | g.77211322T>C | CA475792068 | MYO7A | c.6222T>C (p.Pro2074=) c.4023T>C c.6075T>C (p.Pro2025=) c.3648T>C (p.Pro1216=) c.6108T>C (p.Pro2036=) n.3758T>C n.25+411T>C n.1689T>C c.6105T>C (p.Pro2035=) c.6213T>C (p.Pro2071=) c.6216T>C (p.Pro2072=) c.6189T>C (p.Pro2063=) c.6126T>C (p.Pro2042=) c.5997T>C (p.Pro1999=) c.5985T>C (p.Pro1995=) c.5958T>C (p.Pro1986=) n.6542T>C n.6516T>C c.6312T>C (p.Pro2104=) c.6306T>C (p.Pro2102=) c.6303T>C (p.Pro2101=) c.6198T>C (p.Pro2066=) c.6195T>C (p.Pro2065=) n.6301T>C n.6287T>C | gnomAD v4 |
11 | g.77211322T>G | CA475792067 | MYO7A | c.6222T>G (p.Pro2074=) c.4023T>G c.6075T>G (p.Pro2025=) c.3648T>G (p.Pro1216=) c.6108T>G (p.Pro2036=) n.3758T>G n.25+411T>G n.1689T>G c.6105T>G (p.Pro2035=) c.6213T>G (p.Pro2071=) c.6216T>G (p.Pro2072=) c.6189T>G (p.Pro2063=) c.6126T>G (p.Pro2042=) c.5997T>G (p.Pro1999=) c.5985T>G (p.Pro1995=) c.5958T>G (p.Pro1986=) n.6542T>G n.6516T>G c.6312T>G (p.Pro2104=) c.6306T>G (p.Pro2102=) c.6303T>G (p.Pro2101=) c.6198T>G (p.Pro2066=) c.6195T>G (p.Pro2065=) n.6301T>G n.6287T>G | gnomAD v4 |
11 | g.77211323G>A | CA381936293 | MYO7A | c.6223G>A (p.Asp2075Asn) c.4024G>A c.6076G>A (p.Asp2026Asn) c.3649G>A (p.Asp1217Asn) c.6109G>A (p.Asp2037Asn) n.3759G>A n.25+412G>A n.1690G>A c.6106G>A (p.Asp2036Asn) c.6214G>A (p.Asp2072Asn) c.6217G>A (p.Asp2073Asn) c.6190G>A (p.Asp2064Asn) c.6127G>A (p.Asp2043Asn) c.5998G>A (p.Asp2000Asn) c.5986G>A (p.Asp1996Asn) c.5959G>A (p.Asp1987Asn) n.6543G>A n.6517G>A c.6313G>A (p.Asp2105Asn) c.6307G>A (p.Asp2103Asn) c.6304G>A (p.Asp2102Asn) c.6199G>A (p.Asp2067Asn) c.6196G>A (p.Asp2066Asn) n.6302G>A n.6288G>A | ClinVar dbSNP gnomAD v4 |
11 | g.77211323G>C | CA381936295 | MYO7A | c.6223G>C (p.Asp2075His) c.4024G>C c.6076G>C (p.Asp2026His) c.3649G>C (p.Asp1217His) c.6109G>C (p.Asp2037His) n.3759G>C n.25+412G>C n.1690G>C c.6106G>C (p.Asp2036His) c.6214G>C (p.Asp2072His) c.6217G>C (p.Asp2073His) c.6190G>C (p.Asp2064His) c.6127G>C (p.Asp2043His) c.5998G>C (p.Asp2000His) c.5986G>C (p.Asp1996His) c.5959G>C (p.Asp1987His) n.6543G>C n.6517G>C c.6313G>C (p.Asp2105His) c.6307G>C (p.Asp2103His) c.6304G>C (p.Asp2102His) c.6199G>C (p.Asp2067His) c.6196G>C (p.Asp2066His) n.6302G>C n.6288G>C | gnomAD v4 |
11 | g.77211323G>T | CA381936297 | MYO7A | c.6223G>T (p.Asp2075Tyr) c.4024G>T c.6076G>T (p.Asp2026Tyr) c.3649G>T (p.Asp1217Tyr) c.6109G>T (p.Asp2037Tyr) n.3759G>T n.25+412G>T n.1690G>T c.6106G>T (p.Asp2036Tyr) c.6214G>T (p.Asp2072Tyr) c.6217G>T (p.Asp2073Tyr) c.6190G>T (p.Asp2064Tyr) c.6127G>T (p.Asp2043Tyr) c.5998G>T (p.Asp2000Tyr) c.5986G>T (p.Asp1996Tyr) c.5959G>T (p.Asp1987Tyr) n.6543G>T n.6517G>T c.6313G>T (p.Asp2105Tyr) c.6307G>T (p.Asp2103Tyr) c.6304G>T (p.Asp2102Tyr) c.6199G>T (p.Asp2067Tyr) c.6196G>T (p.Asp2066Tyr) n.6302G>T n.6288G>T | gnomAD v4 |
11 | g.77211324A>C | CA381936299 | MYO7A | c.6224A>C (p.Asp2075Ala) c.4025A>C c.6077A>C (p.Asp2026Ala) c.3650A>C (p.Asp1217Ala) c.6110A>C (p.Asp2037Ala) n.3760A>C n.25+413A>C n.1691A>C c.6107A>C (p.Asp2036Ala) c.6215A>C (p.Asp2072Ala) c.6218A>C (p.Asp2073Ala) c.6191A>C (p.Asp2064Ala) c.6128A>C (p.Asp2043Ala) c.5999A>C (p.Asp2000Ala) c.5987A>C (p.Asp1996Ala) c.5960A>C (p.Asp1987Ala) n.6544A>C n.6518A>C c.6314A>C (p.Asp2105Ala) c.6308A>C (p.Asp2103Ala) c.6305A>C (p.Asp2102Ala) c.6200A>C (p.Asp2067Ala) c.6197A>C (p.Asp2066Ala) n.6303A>C n.6289A>C | |
11 | g.77211324A>G | CA381936301 | MYO7A | c.6224A>G (p.Asp2075Gly) c.4025A>G c.6077A>G (p.Asp2026Gly) c.3650A>G (p.Asp1217Gly) c.6110A>G (p.Asp2037Gly) n.3760A>G n.25+413A>G n.1691A>G c.6107A>G (p.Asp2036Gly) c.6215A>G (p.Asp2072Gly) c.6218A>G (p.Asp2073Gly) c.6191A>G (p.Asp2064Gly) c.6128A>G (p.Asp2043Gly) c.5999A>G (p.Asp2000Gly) c.5987A>G (p.Asp1996Gly) c.5960A>G (p.Asp1987Gly) n.6544A>G n.6518A>G c.6314A>G (p.Asp2105Gly) c.6308A>G (p.Asp2103Gly) c.6305A>G (p.Asp2102Gly) c.6200A>G (p.Asp2067Gly) c.6197A>G (p.Asp2066Gly) n.6303A>G n.6289A>G | |
11 | g.77211324A>T | CA381936303 | MYO7A | c.6224A>T (p.Asp2075Val) c.4025A>T c.6077A>T (p.Asp2026Val) c.3650A>T (p.Asp1217Val) c.6110A>T (p.Asp2037Val) n.3760A>T n.25+413A>T n.1691A>T c.6107A>T (p.Asp2036Val) c.6215A>T (p.Asp2072Val) c.6218A>T (p.Asp2073Val) c.6191A>T (p.Asp2064Val) c.6128A>T (p.Asp2043Val) c.5999A>T (p.Asp2000Val) c.5987A>T (p.Asp1996Val) c.5960A>T (p.Asp1987Val) n.6544A>T n.6518A>T c.6314A>T (p.Asp2105Val) c.6308A>T (p.Asp2103Val) c.6305A>T (p.Asp2102Val) c.6200A>T (p.Asp2067Val) c.6197A>T (p.Asp2066Val) n.6303A>T n.6289A>T | |
11 | g.77211325T>A | CA381936306 | MYO7A | c.6225T>A (p.Asp2075Glu) c.4026T>A c.6078T>A (p.Asp2026Glu) c.3651T>A (p.Asp1217Glu) c.6111T>A (p.Asp2037Glu) n.3761T>A n.25+414T>A n.1692T>A c.6108T>A (p.Asp2036Glu) c.6216T>A (p.Asp2072Glu) c.6219T>A (p.Asp2073Glu) c.6192T>A (p.Asp2064Glu) c.6129T>A (p.Asp2043Glu) c.6000T>A (p.Asp2000Glu) c.5988T>A (p.Asp1996Glu) c.5961T>A (p.Asp1987Glu) n.6545T>A n.6519T>A c.6315T>A (p.Asp2105Glu) c.6309T>A (p.Asp2103Glu) c.6306T>A (p.Asp2102Glu) c.6201T>A (p.Asp2067Glu) c.6198T>A (p.Asp2066Glu) n.6304T>A n.6290T>A | |
11 | g.77211325T>C | CA475792070 | MYO7A | c.6225T>C (p.Asp2075=) c.4026T>C c.6078T>C (p.Asp2026=) c.3651T>C (p.Asp1217=) c.6111T>C (p.Asp2037=) n.3761T>C n.25+414T>C n.1692T>C c.6108T>C (p.Asp2036=) c.6216T>C (p.Asp2072=) c.6219T>C (p.Asp2073=) c.6192T>C (p.Asp2064=) c.6129T>C (p.Asp2043=) c.6000T>C (p.Asp2000=) c.5988T>C (p.Asp1996=) c.5961T>C (p.Asp1987=) n.6545T>C n.6519T>C c.6315T>C (p.Asp2105=) c.6309T>C (p.Asp2103=) c.6306T>C (p.Asp2102=) c.6201T>C (p.Asp2067=) c.6198T>C (p.Asp2066=) n.6304T>C n.6290T>C | |
11 | g.77211325T>G | CA381936308 | MYO7A | c.6225T>G (p.Asp2075Glu) c.4026T>G c.6078T>G (p.Asp2026Glu) c.3651T>G (p.Asp1217Glu) c.6111T>G (p.Asp2037Glu) n.3761T>G n.25+414T>G n.1692T>G c.6108T>G (p.Asp2036Glu) c.6216T>G (p.Asp2072Glu) c.6219T>G (p.Asp2073Glu) c.6192T>G (p.Asp2064Glu) c.6129T>G (p.Asp2043Glu) c.6000T>G (p.Asp2000Glu) c.5988T>G (p.Asp1996Glu) c.5961T>G (p.Asp1987Glu) n.6545T>G n.6519T>G c.6315T>G (p.Asp2105Glu) c.6309T>G (p.Asp2103Glu) c.6306T>G (p.Asp2102Glu) c.6201T>G (p.Asp2067Glu) c.6198T>G (p.Asp2066Glu) n.6304T>G n.6290T>G | |
11 | g.77211326G>A | CA381936311 | MYO7A | c.6226G>A (p.Asp2076Asn) c.4027G>A c.6079G>A (p.Asp2027Asn) c.3652G>A (p.Asp1218Asn) c.6112G>A (p.Asp2038Asn) n.3762G>A n.25+415G>A n.1693G>A c.6109G>A (p.Asp2037Asn) c.6217G>A (p.Asp2073Asn) c.6220G>A (p.Asp2074Asn) c.6193G>A (p.Asp2065Asn) c.6130G>A (p.Asp2044Asn) c.6001G>A (p.Asp2001Asn) c.5989G>A (p.Asp1997Asn) c.5962G>A (p.Asp1988Asn) n.6546G>A n.6520G>A c.6316G>A (p.Asp2106Asn) c.6310G>A (p.Asp2104Asn) c.6307G>A (p.Asp2103Asn) c.6202G>A (p.Asp2068Asn) c.6199G>A (p.Asp2067Asn) n.6305G>A n.6291G>A | |
11 | g.77211326G>C | CA381936313 | MYO7A | c.6226G>C (p.Asp2076His) c.4027G>C c.6079G>C (p.Asp2027His) c.3652G>C (p.Asp1218His) c.6112G>C (p.Asp2038His) n.3762G>C n.25+415G>C n.1693G>C c.6109G>C (p.Asp2037His) c.6217G>C (p.Asp2073His) c.6220G>C (p.Asp2074His) c.6193G>C (p.Asp2065His) c.6130G>C (p.Asp2044His) c.6001G>C (p.Asp2001His) c.5989G>C (p.Asp1997His) c.5962G>C (p.Asp1988His) n.6546G>C n.6520G>C c.6316G>C (p.Asp2106His) c.6310G>C (p.Asp2104His) c.6307G>C (p.Asp2103His) c.6202G>C (p.Asp2068His) c.6199G>C (p.Asp2067His) n.6305G>C n.6291G>C | gnomAD v4 |
11 | g.77211326G>T | CA381936316 | MYO7A | c.6226G>T (p.Asp2076Tyr) c.4027G>T c.6079G>T (p.Asp2027Tyr) c.3652G>T (p.Asp1218Tyr) c.6112G>T (p.Asp2038Tyr) n.3762G>T n.25+415G>T n.1693G>T c.6109G>T (p.Asp2037Tyr) c.6217G>T (p.Asp2073Tyr) c.6220G>T (p.Asp2074Tyr) c.6193G>T (p.Asp2065Tyr) c.6130G>T (p.Asp2044Tyr) c.6001G>T (p.Asp2001Tyr) c.5989G>T (p.Asp1997Tyr) c.5962G>T (p.Asp1988Tyr) n.6546G>T n.6520G>T c.6316G>T (p.Asp2106Tyr) c.6310G>T (p.Asp2104Tyr) c.6307G>T (p.Asp2103Tyr) c.6202G>T (p.Asp2068Tyr) c.6199G>T (p.Asp2067Tyr) n.6305G>T n.6291G>T | gnomAD v4 |
11 | g.77211328_77211332del | CA2573147840 | MYO7A | c.6228_6232del (p.Asp2076GlufsTer?) c.4029_4033del c.6081_6085del (p.Asp2027GlufsTer?) c.3654_3658del (p.Asp1218GlufsTer?) c.6114_6118del (p.Asp2038GlufsTer?) n.3764_3768del n.25+417_25+421del n.1695_1699del c.6111_6115del (p.Asp2037GlufsTer?) c.6219_6223del (p.Asp2073GlufsTer?) c.6222_6226del (p.Asp2074GlufsTer?) c.6195_6199del (p.Asp2065GlufsTer?) c.6132_6136del (p.Asp2044GlufsTer?) c.6003_6007del (p.Asp2001GlufsTer?) c.5991_5995del (p.Asp1997GlufsTer?) c.5964_5968del (p.Asp1988GlufsTer?) n.6548_6552del n.6522_6526del c.6318_6322del (p.Asp2106GlufsTer?) c.6312_6316del (p.Asp2104GlufsTer?) c.6309_6313del (p.Asp2103GlufsTer?) c.6204_6208del (p.Asp2068GlufsTer?) c.6201_6205del (p.Asp2067GlufsTer?) n.6307_6311del n.6293_6297del | ClinVar dbSNP gnomAD v4 |
11 | g.77211327A>C | CA381936319 | MYO7A | c.6227A>C (p.Asp2076Ala) c.4028A>C c.6080A>C (p.Asp2027Ala) c.3653A>C (p.Asp1218Ala) c.6113A>C (p.Asp2038Ala) n.3763A>C n.25+416A>C n.1694A>C c.6110A>C (p.Asp2037Ala) c.6218A>C (p.Asp2073Ala) c.6221A>C (p.Asp2074Ala) c.6194A>C (p.Asp2065Ala) c.6131A>C (p.Asp2044Ala) c.6002A>C (p.Asp2001Ala) c.5990A>C (p.Asp1997Ala) c.5963A>C (p.Asp1988Ala) n.6547A>C n.6521A>C c.6317A>C (p.Asp2106Ala) c.6311A>C (p.Asp2104Ala) c.6308A>C (p.Asp2103Ala) c.6203A>C (p.Asp2068Ala) c.6200A>C (p.Asp2067Ala) n.6306A>C n.6292A>C | |
11 | g.77211327A>G | CA381936322 | MYO7A | c.6227A>G (p.Asp2076Gly) c.4028A>G c.6080A>G (p.Asp2027Gly) c.3653A>G (p.Asp1218Gly) c.6113A>G (p.Asp2038Gly) n.3763A>G n.25+416A>G n.1694A>G c.6110A>G (p.Asp2037Gly) c.6218A>G (p.Asp2073Gly) c.6221A>G (p.Asp2074Gly) c.6194A>G (p.Asp2065Gly) c.6131A>G (p.Asp2044Gly) c.6002A>G (p.Asp2001Gly) c.5990A>G (p.Asp1997Gly) c.5963A>G (p.Asp1988Gly) n.6547A>G n.6521A>G c.6317A>G (p.Asp2106Gly) c.6311A>G (p.Asp2104Gly) c.6308A>G (p.Asp2103Gly) c.6203A>G (p.Asp2068Gly) c.6200A>G (p.Asp2067Gly) n.6306A>G n.6292A>G | gnomAD v4 |
11 | g.77211327A>T | CA381936325 | MYO7A | c.6227A>T (p.Asp2076Val) c.4028A>T c.6080A>T (p.Asp2027Val) c.3653A>T (p.Asp1218Val) c.6113A>T (p.Asp2038Val) n.3763A>T n.25+416A>T n.1694A>T c.6110A>T (p.Asp2037Val) c.6218A>T (p.Asp2073Val) c.6221A>T (p.Asp2074Val) c.6194A>T (p.Asp2065Val) c.6131A>T (p.Asp2044Val) c.6002A>T (p.Asp2001Val) c.5990A>T (p.Asp1997Val) c.5963A>T (p.Asp1988Val) n.6547A>T n.6521A>T c.6317A>T (p.Asp2106Val) c.6311A>T (p.Asp2104Val) c.6308A>T (p.Asp2103Val) c.6203A>T (p.Asp2068Val) c.6200A>T (p.Asp2067Val) n.6306A>T n.6292A>T | |
11 | g.77211328C>A | CA381936330 | MYO7A | c.6228C>A (p.Asp2076Glu) c.4029C>A c.6081C>A (p.Asp2027Glu) c.3654C>A (p.Asp1218Glu) c.6114C>A (p.Asp2038Glu) n.3764C>A n.25+417C>A n.1695C>A c.6111C>A (p.Asp2037Glu) c.6219C>A (p.Asp2073Glu) c.6222C>A (p.Asp2074Glu) c.6195C>A (p.Asp2065Glu) c.6132C>A (p.Asp2044Glu) c.6003C>A (p.Asp2001Glu) c.5991C>A (p.Asp1997Glu) c.5964C>A (p.Asp1988Glu) n.6548C>A n.6522C>A c.6318C>A (p.Asp2106Glu) c.6312C>A (p.Asp2104Glu) c.6309C>A (p.Asp2103Glu) c.6204C>A (p.Asp2068Glu) c.6201C>A (p.Asp2067Glu) n.6307C>A n.6293C>A | gnomAD v4 |
11 | g.77211328C>G | CA381936328 | MYO7A | c.6228C>G (p.Asp2076Glu) c.4029C>G c.6081C>G (p.Asp2027Glu) c.3654C>G (p.Asp1218Glu) c.6114C>G (p.Asp2038Glu) n.3764C>G n.25+417C>G n.1695C>G c.6111C>G (p.Asp2037Glu) c.6219C>G (p.Asp2073Glu) c.6222C>G (p.Asp2074Glu) c.6195C>G (p.Asp2065Glu) c.6132C>G (p.Asp2044Glu) c.6003C>G (p.Asp2001Glu) c.5991C>G (p.Asp1997Glu) c.5964C>G (p.Asp1988Glu) n.6548C>G n.6522C>G c.6318C>G (p.Asp2106Glu) c.6312C>G (p.Asp2104Glu) c.6309C>G (p.Asp2103Glu) c.6204C>G (p.Asp2068Glu) c.6201C>G (p.Asp2067Glu) n.6307C>G n.6293C>G | |
11 | g.77211328C>T | CA475792075 | MYO7A | c.6228C>T (p.Asp2076=) c.4029C>T c.6081C>T (p.Asp2027=) c.3654C>T (p.Asp1218=) c.6114C>T (p.Asp2038=) n.3764C>T n.25+417C>T n.1695C>T c.6111C>T (p.Asp2037=) c.6219C>T (p.Asp2073=) c.6222C>T (p.Asp2074=) c.6195C>T (p.Asp2065=) c.6132C>T (p.Asp2044=) c.6003C>T (p.Asp2001=) c.5991C>T (p.Asp1997=) c.5964C>T (p.Asp1988=) n.6548C>T n.6522C>T c.6318C>T (p.Asp2106=) c.6312C>T (p.Asp2104=) c.6309C>T (p.Asp2103=) c.6204C>T (p.Asp2068=) c.6201C>T (p.Asp2067=) n.6307C>T n.6293C>T | gnomAD v4 |
11 | g.77211329T>A | CA381936332 | MYO7A | c.6229T>A (p.Trp2077Arg) c.4030T>A c.6082T>A (p.Trp2028Arg) c.3655T>A (p.Trp1219Arg) c.6115T>A (p.Trp2039Arg) n.3765T>A n.25+418T>A n.1696T>A c.6112T>A (p.Trp2038Arg) c.6220T>A (p.Trp2074Arg) c.6223T>A (p.Trp2075Arg) c.6196T>A (p.Trp2066Arg) c.6133T>A (p.Trp2045Arg) c.6004T>A (p.Trp2002Arg) c.5992T>A (p.Trp1998Arg) c.5965T>A (p.Trp1989Arg) n.6549T>A n.6523T>A c.6319T>A (p.Trp2107Arg) c.6313T>A (p.Trp2105Arg) c.6310T>A (p.Trp2104Arg) c.6205T>A (p.Trp2069Arg) c.6202T>A (p.Trp2068Arg) n.6308T>A n.6294T>A | |
11 | g.77211329T>C | CA381936334 | MYO7A | c.6229T>C (p.Trp2077Arg) c.4030T>C c.6082T>C (p.Trp2028Arg) c.3655T>C (p.Trp1219Arg) c.6115T>C (p.Trp2039Arg) n.3765T>C n.25+418T>C n.1696T>C c.6112T>C (p.Trp2038Arg) c.6220T>C (p.Trp2074Arg) c.6223T>C (p.Trp2075Arg) c.6196T>C (p.Trp2066Arg) c.6133T>C (p.Trp2045Arg) c.6004T>C (p.Trp2002Arg) c.5992T>C (p.Trp1998Arg) c.5965T>C (p.Trp1989Arg) n.6549T>C n.6523T>C c.6319T>C (p.Trp2107Arg) c.6313T>C (p.Trp2105Arg) c.6310T>C (p.Trp2104Arg) c.6205T>C (p.Trp2069Arg) c.6202T>C (p.Trp2068Arg) n.6308T>C n.6294T>C | gnomAD v4 |
11 | g.77211329T>G | CA381936336 | MYO7A | c.6229T>G (p.Trp2077Gly) c.4030T>G c.6082T>G (p.Trp2028Gly) c.3655T>G (p.Trp1219Gly) c.6115T>G (p.Trp2039Gly) n.3765T>G n.25+418T>G n.1696T>G c.6112T>G (p.Trp2038Gly) c.6220T>G (p.Trp2074Gly) c.6223T>G (p.Trp2075Gly) c.6196T>G (p.Trp2066Gly) c.6133T>G (p.Trp2045Gly) c.6004T>G (p.Trp2002Gly) c.5992T>G (p.Trp1998Gly) c.5965T>G (p.Trp1989Gly) n.6549T>G n.6523T>G c.6319T>G (p.Trp2107Gly) c.6313T>G (p.Trp2105Gly) c.6310T>G (p.Trp2104Gly) c.6205T>G (p.Trp2069Gly) c.6202T>G (p.Trp2068Gly) n.6308T>G n.6294T>G | |
11 | g.77211329dup | CA2573053568 | MYO7A | c.6229dup (p.Trp2077LeufsTer?) c.4030dup c.6082dup (p.Trp2028LeufsTer?) c.3655dup (p.Trp1219LeufsTer?) c.6115dup (p.Trp2039LeufsTer?) n.3765dup n.25+418dup n.1696dup c.6112dup (p.Trp2038LeufsTer?) c.6220dup (p.Trp2074LeufsTer?) c.6223dup (p.Trp2075LeufsTer?) c.6196dup (p.Trp2066LeufsTer?) c.6133dup (p.Trp2045LeufsTer?) c.6004dup (p.Trp2002LeufsTer?) c.5992dup (p.Trp1998LeufsTer?) c.5965dup (p.Trp1989LeufsTer?) n.6549dup n.6523dup c.6319dup (p.Trp2107LeufsTer?) c.6313dup (p.Trp2105LeufsTer?) c.6310dup (p.Trp2104LeufsTer?) c.6205dup (p.Trp2069LeufsTer?) c.6202dup (p.Trp2068LeufsTer?) n.6308dup n.6294dup | ClinVar dbSNP |
11 | g.77211329_77211330delinsTG | CA1984129914 | MYO7A | c.6229_6230delinsTG (p.Trp2077=) c.4030_4031delinsTG c.6082_6083delinsTG (p.Trp2028=) c.3655_3656delinsTG (p.Trp1219=) c.6115_6116delinsTG (p.Trp2039=) n.3765_3766delinsTG n.25+418_25+419delinsTG n.1696_1697delinsTG c.6112_6113delinsTG (p.Trp2038=) c.6220_6221delinsTG (p.Trp2074=) c.6223_6224delinsTG (p.Trp2075=) c.6196_6197delinsTG (p.Trp2066=) c.6133_6134delinsTG (p.Trp2045=) c.6004_6005delinsTG (p.Trp2002=) c.5992_5993delinsTG (p.Trp1998=) c.5965_5966delinsTG (p.Trp1989=) n.6549_6550delinsTG n.6523_6524delinsTG c.6319_6320delinsTG (p.Trp2107=) c.6313_6314delinsTG (p.Trp2105=) c.6310_6311delinsTG (p.Trp2104=) c.6205_6206delinsTG (p.Trp2069=) c.6202_6203delinsTG (p.Trp2068=) n.6308_6309delinsTG n.6294_6295delinsTG | |
11 | g.77211330G>A | CA6198955 | MYO7A | c.6230G>A (p.Trp2077Ter) c.4031G>A c.6083G>A (p.Trp2028Ter) c.3656G>A (p.Trp1219Ter) c.6116G>A (p.Trp2039Ter) n.3766G>A n.25+419G>A n.1697G>A c.6113G>A (p.Trp2038Ter) c.6221G>A (p.Trp2074Ter) c.6224G>A (p.Trp2075Ter) c.6197G>A (p.Trp2066Ter) c.6134G>A (p.Trp2045Ter) c.6005G>A (p.Trp2002Ter) c.5993G>A (p.Trp1998Ter) c.5966G>A (p.Trp1989Ter) n.6550G>A n.6524G>A c.6320G>A (p.Trp2107Ter) c.6314G>A (p.Trp2105Ter) c.6311G>A (p.Trp2104Ter) c.6206G>A (p.Trp2069Ter) c.6203G>A (p.Trp2068Ter) n.6309G>A n.6295G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77211330G>C | CA381936344 | MYO7A | c.6230G>C (p.Trp2077Ser) c.4031G>C c.6083G>C (p.Trp2028Ser) c.3656G>C (p.Trp1219Ser) c.6116G>C (p.Trp2039Ser) n.3766G>C n.25+419G>C n.1697G>C c.6113G>C (p.Trp2038Ser) c.6221G>C (p.Trp2074Ser) c.6224G>C (p.Trp2075Ser) c.6197G>C (p.Trp2066Ser) c.6134G>C (p.Trp2045Ser) c.6005G>C (p.Trp2002Ser) c.5993G>C (p.Trp1998Ser) c.5966G>C (p.Trp1989Ser) n.6550G>C n.6524G>C c.6320G>C (p.Trp2107Ser) c.6314G>C (p.Trp2105Ser) c.6311G>C (p.Trp2104Ser) c.6206G>C (p.Trp2069Ser) c.6203G>C (p.Trp2068Ser) n.6309G>C n.6295G>C | gnomAD v4 |
11 | g.77211330G= | CA1984129915 | MYO7A | c.6230G= (p.Trp2077=) c.4031G= c.6083G= (p.Trp2028=) c.3656G= (p.Trp1219=) c.6116G= (p.Trp2039=) n.3766G= n.25+419G= n.1697G= c.6113G= (p.Trp2038=) c.6221G= (p.Trp2074=) c.6224G= (p.Trp2075=) c.6197G= (p.Trp2066=) c.6134G= (p.Trp2045=) c.6005G= (p.Trp2002=) c.5993G= (p.Trp1998=) c.5966G= (p.Trp1989=) n.6550G= n.6524G= c.6320G= (p.Trp2107=) c.6314G= (p.Trp2105=) c.6311G= (p.Trp2104=) c.6206G= (p.Trp2069=) c.6203G= (p.Trp2068=) n.6309G= n.6295G= | |
11 | g.77211330G>T | CA381936345 | MYO7A | c.6230G>T (p.Trp2077Leu) c.4031G>T c.6083G>T (p.Trp2028Leu) c.3656G>T (p.Trp1219Leu) c.6116G>T (p.Trp2039Leu) n.3766G>T n.25+419G>T n.1697G>T c.6113G>T (p.Trp2038Leu) c.6221G>T (p.Trp2074Leu) c.6224G>T (p.Trp2075Leu) c.6197G>T (p.Trp2066Leu) c.6134G>T (p.Trp2045Leu) c.6005G>T (p.Trp2002Leu) c.5993G>T (p.Trp1998Leu) c.5966G>T (p.Trp1989Leu) n.6550G>T n.6524G>T c.6320G>T (p.Trp2107Leu) c.6314G>T (p.Trp2105Leu) c.6311G>T (p.Trp2104Leu) c.6206G>T (p.Trp2069Leu) c.6203G>T (p.Trp2068Leu) n.6309G>T n.6295G>T | |
11 | g.77211331dup | CA278745 | MYO7A | c.6231dup (p.Lys2078GlufsTer?) c.4032dup c.6084dup (p.Lys2029GlufsTer?) c.3657dup (p.Lys1220GlufsTer?) c.6117dup (p.Lys2040GlufsTer?) n.3767dup n.25+420dup n.1698dup c.6114dup (p.Lys2039GlufsTer?) c.6222dup (p.Lys2075GlufsTer?) c.6225dup (p.Lys2076GlufsTer?) c.6198dup (p.Lys2067GlufsTer?) c.6135dup (p.Lys2046GlufsTer?) c.6006dup (p.Lys2003GlufsTer?) c.5994dup (p.Lys1999GlufsTer?) c.5967dup (p.Lys1990GlufsTer?) n.6551dup n.6525dup c.6321dup (p.Lys2108GlufsTer?) c.6315dup (p.Lys2106GlufsTer?) c.6312dup (p.Lys2105GlufsTer?) c.6207dup (p.Lys2070GlufsTer?) c.6204dup (p.Lys2069GlufsTer?) n.6310dup n.6296dup | ClinVar dbSNP |
11 | g.77211331del | CA6198954 | MYO7A | c.6231del (p.Trp2077Ter) c.4032del c.6084del (p.Trp2028Ter) c.3657del (p.Trp1219Ter) c.6117del (p.Trp2039Ter) n.3767del n.25+420del n.1698del c.6114del (p.Trp2038Ter) c.6222del (p.Trp2074Ter) c.6225del (p.Trp2075Ter) c.6198del (p.Trp2066Ter) c.6135del (p.Trp2045Ter) c.6006del (p.Trp2002Ter) c.5994del (p.Trp1998Ter) c.5967del (p.Trp1989Ter) n.6551del n.6525del c.6321del (p.Trp2107Ter) c.6315del (p.Trp2105Ter) c.6312del (p.Trp2104Ter) c.6207del (p.Trp2069Ter) c.6204del (p.Trp2068Ter) n.6310del n.6296del | dbSNP ExAC gnomAD v2 |
11 | g.77211331G>A | CA381936351 | MYO7A | c.6231G>A (p.Trp2077Ter) c.4032G>A c.6084G>A (p.Trp2028Ter) c.3657G>A (p.Trp1219Ter) c.6117G>A (p.Trp2039Ter) n.3767G>A n.25+420G>A n.1698G>A c.6114G>A (p.Trp2038Ter) c.6222G>A (p.Trp2074Ter) c.6225G>A (p.Trp2075Ter) c.6198G>A (p.Trp2066Ter) c.6135G>A (p.Trp2045Ter) c.6006G>A (p.Trp2002Ter) c.5994G>A (p.Trp1998Ter) c.5967G>A (p.Trp1989Ter) n.6551G>A n.6525G>A c.6321G>A (p.Trp2107Ter) c.6315G>A (p.Trp2105Ter) c.6312G>A (p.Trp2104Ter) c.6207G>A (p.Trp2069Ter) c.6204G>A (p.Trp2068Ter) n.6310G>A n.6296G>A | ClinVar dbSNP gnomAD v4 |
11 | g.77211331G>C | CA381936355 | MYO7A | c.6231G>C (p.Trp2077Cys) c.4032G>C c.6084G>C (p.Trp2028Cys) c.3657G>C (p.Trp1219Cys) c.6117G>C (p.Trp2039Cys) n.3767G>C n.25+420G>C n.1698G>C c.6114G>C (p.Trp2038Cys) c.6222G>C (p.Trp2074Cys) c.6225G>C (p.Trp2075Cys) c.6198G>C (p.Trp2066Cys) c.6135G>C (p.Trp2045Cys) c.6006G>C (p.Trp2002Cys) c.5994G>C (p.Trp1998Cys) c.5967G>C (p.Trp1989Cys) n.6551G>C n.6525G>C c.6321G>C (p.Trp2107Cys) c.6315G>C (p.Trp2105Cys) c.6312G>C (p.Trp2104Cys) c.6207G>C (p.Trp2069Cys) c.6204G>C (p.Trp2068Cys) n.6310G>C n.6296G>C | ClinVar gnomAD v4 |
11 | g.77211331G= | CA1984129916 | MYO7A | c.6231G= (p.Trp2077=) c.4032G= c.6084G= (p.Trp2028=) c.3657G= (p.Trp1219=) c.6117G= (p.Trp2039=) n.3767G= n.25+420G= n.1698G= c.6114G= (p.Trp2038=) c.6222G= (p.Trp2074=) c.6225G= (p.Trp2075=) c.6198G= (p.Trp2066=) c.6135G= (p.Trp2045=) c.6006G= (p.Trp2002=) c.5994G= (p.Trp1998=) c.5967G= (p.Trp1989=) n.6551G= n.6525G= c.6321G= (p.Trp2107=) c.6315G= (p.Trp2105=) c.6312G= (p.Trp2104=) c.6207G= (p.Trp2069=) c.6204G= (p.Trp2068=) n.6310G= n.6296G= | |
11 | g.77211331G>T | CA381936353 | MYO7A | c.6231G>T (p.Trp2077Cys) c.4032G>T c.6084G>T (p.Trp2028Cys) c.3657G>T (p.Trp1219Cys) c.6117G>T (p.Trp2039Cys) n.3767G>T n.25+420G>T n.1698G>T c.6114G>T (p.Trp2038Cys) c.6222G>T (p.Trp2074Cys) c.6225G>T (p.Trp2075Cys) c.6198G>T (p.Trp2066Cys) c.6135G>T (p.Trp2045Cys) c.6006G>T (p.Trp2002Cys) c.5994G>T (p.Trp1998Cys) c.5967G>T (p.Trp1989Cys) n.6551G>T n.6525G>T c.6321G>T (p.Trp2107Cys) c.6315G>T (p.Trp2105Cys) c.6312G>T (p.Trp2104Cys) c.6207G>T (p.Trp2069Cys) c.6204G>T (p.Trp2068Cys) n.6310G>T n.6296G>T | gnomAD v4 |
11 | g.77211332A= | CA1984129917 | MYO7A | c.6232A= (p.Lys2078=) c.4033A= c.6085A= (p.Lys2029=) c.3658A= (p.Lys1220=) c.6118A= (p.Lys2040=) n.3768A= n.25+421A= n.1699A= c.6115A= (p.Lys2039=) c.6223A= (p.Lys2075=) c.6226A= (p.Lys2076=) c.6199A= (p.Lys2067=) c.6136A= (p.Lys2046=) c.6007A= (p.Lys2003=) c.5995A= (p.Lys1999=) c.5968A= (p.Lys1990=) n.6552A= n.6526A= c.6322A= (p.Lys2108=) c.6316A= (p.Lys2106=) c.6313A= (p.Lys2105=) c.6208A= (p.Lys2070=) c.6205A= (p.Lys2069=) n.6311A= n.6297A= | |
11 | g.77211332A>C | CA381936358 | MYO7A | c.6232A>C (p.Lys2078Gln) c.4033A>C c.6085A>C (p.Lys2029Gln) c.3658A>C (p.Lys1220Gln) c.6118A>C (p.Lys2040Gln) n.3768A>C n.25+421A>C n.1699A>C c.6115A>C (p.Lys2039Gln) c.6223A>C (p.Lys2075Gln) c.6226A>C (p.Lys2076Gln) c.6199A>C (p.Lys2067Gln) c.6136A>C (p.Lys2046Gln) c.6007A>C (p.Lys2003Gln) c.5995A>C (p.Lys1999Gln) c.5968A>C (p.Lys1990Gln) n.6552A>C n.6526A>C c.6322A>C (p.Lys2108Gln) c.6316A>C (p.Lys2106Gln) c.6313A>C (p.Lys2105Gln) c.6208A>C (p.Lys2070Gln) c.6205A>C (p.Lys2069Gln) n.6311A>C n.6297A>C | |
11 | g.77211332A>G | CA381936359 | MYO7A | c.6232A>G (p.Lys2078Glu) c.4033A>G c.6085A>G (p.Lys2029Glu) c.3658A>G (p.Lys1220Glu) c.6118A>G (p.Lys2040Glu) n.3768A>G n.25+421A>G n.1699A>G c.6115A>G (p.Lys2039Glu) c.6223A>G (p.Lys2075Glu) c.6226A>G (p.Lys2076Glu) c.6199A>G (p.Lys2067Glu) c.6136A>G (p.Lys2046Glu) c.6007A>G (p.Lys2003Glu) c.5995A>G (p.Lys1999Glu) c.5968A>G (p.Lys1990Glu) n.6552A>G n.6526A>G c.6322A>G (p.Lys2108Glu) c.6316A>G (p.Lys2106Glu) c.6313A>G (p.Lys2105Glu) c.6208A>G (p.Lys2070Glu) c.6205A>G (p.Lys2069Glu) n.6311A>G n.6297A>G | |
11 | g.77211332A>T | CA381936362 | MYO7A | c.6232A>T (p.Lys2078Ter) c.4033A>T c.6085A>T (p.Lys2029Ter) c.3658A>T (p.Lys1220Ter) c.6118A>T (p.Lys2040Ter) n.3768A>T n.25+421A>T n.1699A>T c.6115A>T (p.Lys2039Ter) c.6223A>T (p.Lys2075Ter) c.6226A>T (p.Lys2076Ter) c.6199A>T (p.Lys2067Ter) c.6136A>T (p.Lys2046Ter) c.6007A>T (p.Lys2003Ter) c.5995A>T (p.Lys1999Ter) c.5968A>T (p.Lys1990Ter) n.6552A>T n.6526A>T c.6322A>T (p.Lys2108Ter) c.6316A>T (p.Lys2106Ter) c.6313A>T (p.Lys2105Ter) c.6208A>T (p.Lys2070Ter) c.6205A>T (p.Lys2069Ter) n.6311A>T n.6297A>T | ClinVar dbSNP gnomAD v4 |
11 | g.77211333A>C | CA381936366 | MYO7A | c.6233A>C (p.Lys2078Thr) c.4034A>C c.6086A>C (p.Lys2029Thr) c.3659A>C (p.Lys1220Thr) c.6119A>C (p.Lys2040Thr) n.3769A>C n.25+422A>C n.1700A>C c.6116A>C (p.Lys2039Thr) c.6224A>C (p.Lys2075Thr) c.6227A>C (p.Lys2076Thr) c.6200A>C (p.Lys2067Thr) c.6137A>C (p.Lys2046Thr) c.6008A>C (p.Lys2003Thr) c.5996A>C (p.Lys1999Thr) c.5969A>C (p.Lys1990Thr) n.6553A>C n.6527A>C c.6323A>C (p.Lys2108Thr) c.6317A>C (p.Lys2106Thr) c.6314A>C (p.Lys2105Thr) c.6209A>C (p.Lys2070Thr) c.6206A>C (p.Lys2069Thr) n.6312A>C n.6298A>C | |
11 | g.77211333A>G | CA381936370 | MYO7A | c.6233A>G (p.Lys2078Arg) c.4034A>G c.6086A>G (p.Lys2029Arg) c.3659A>G (p.Lys1220Arg) c.6119A>G (p.Lys2040Arg) n.3769A>G n.25+422A>G n.1700A>G c.6116A>G (p.Lys2039Arg) c.6224A>G (p.Lys2075Arg) c.6227A>G (p.Lys2076Arg) c.6200A>G (p.Lys2067Arg) c.6137A>G (p.Lys2046Arg) c.6008A>G (p.Lys2003Arg) c.5996A>G (p.Lys1999Arg) c.5969A>G (p.Lys1990Arg) n.6553A>G n.6527A>G c.6323A>G (p.Lys2108Arg) c.6317A>G (p.Lys2106Arg) c.6314A>G (p.Lys2105Arg) c.6209A>G (p.Lys2070Arg) c.6206A>G (p.Lys2069Arg) n.6312A>G n.6298A>G | |
11 | g.77211333A>T | CA381936368 | MYO7A | c.6233A>T (p.Lys2078Met) c.4034A>T c.6086A>T (p.Lys2029Met) c.3659A>T (p.Lys1220Met) c.6119A>T (p.Lys2040Met) n.3769A>T n.25+422A>T n.1700A>T c.6116A>T (p.Lys2039Met) c.6224A>T (p.Lys2075Met) c.6227A>T (p.Lys2076Met) c.6200A>T (p.Lys2067Met) c.6137A>T (p.Lys2046Met) c.6008A>T (p.Lys2003Met) c.5996A>T (p.Lys1999Met) c.5969A>T (p.Lys1990Met) n.6553A>T n.6527A>T c.6323A>T (p.Lys2108Met) c.6317A>T (p.Lys2106Met) c.6314A>T (p.Lys2105Met) c.6209A>T (p.Lys2070Met) c.6206A>T (p.Lys2069Met) n.6312A>T n.6298A>T | |
11 | g.77211334G>A | CA475792080 | MYO7A | c.6234G>A (p.Lys2078=) c.4035G>A c.6087G>A (p.Lys2029=) c.3660G>A (p.Lys1220=) c.6120G>A (p.Lys2040=) n.3770G>A n.25+423G>A n.1701G>A c.6117G>A (p.Lys2039=) c.6225G>A (p.Lys2075=) c.6228G>A (p.Lys2076=) c.6201G>A (p.Lys2067=) c.6138G>A (p.Lys2046=) c.6009G>A (p.Lys2003=) c.5997G>A (p.Lys1999=) c.5970G>A (p.Lys1990=) n.6554G>A n.6528G>A c.6324G>A (p.Lys2108=) c.6318G>A (p.Lys2106=) c.6315G>A (p.Lys2105=) c.6210G>A (p.Lys2070=) c.6207G>A (p.Lys2069=) n.6313G>A n.6299G>A | COSMIC |
11 | g.77211334G>C | CA381936373 | MYO7A | c.6234G>C (p.Lys2078Asn) c.4035G>C c.6087G>C (p.Lys2029Asn) c.3660G>C (p.Lys1220Asn) c.6120G>C (p.Lys2040Asn) n.3770G>C n.25+423G>C n.1701G>C c.6117G>C (p.Lys2039Asn) c.6225G>C (p.Lys2075Asn) c.6228G>C (p.Lys2076Asn) c.6201G>C (p.Lys2067Asn) c.6138G>C (p.Lys2046Asn) c.6009G>C (p.Lys2003Asn) c.5997G>C (p.Lys1999Asn) c.5970G>C (p.Lys1990Asn) n.6554G>C n.6528G>C c.6324G>C (p.Lys2108Asn) c.6318G>C (p.Lys2106Asn) c.6315G>C (p.Lys2105Asn) c.6210G>C (p.Lys2070Asn) c.6207G>C (p.Lys2069Asn) n.6313G>C n.6299G>C | |
11 | g.77211334G>T | CA381936375 | MYO7A | c.6234G>T (p.Lys2078Asn) c.4035G>T c.6087G>T (p.Lys2029Asn) c.3660G>T (p.Lys1220Asn) c.6120G>T (p.Lys2040Asn) n.3770G>T n.25+423G>T n.1701G>T c.6117G>T (p.Lys2039Asn) c.6225G>T (p.Lys2075Asn) c.6228G>T (p.Lys2076Asn) c.6201G>T (p.Lys2067Asn) c.6138G>T (p.Lys2046Asn) c.6009G>T (p.Lys2003Asn) c.5997G>T (p.Lys1999Asn) c.5970G>T (p.Lys1990Asn) n.6554G>T n.6528G>T c.6324G>T (p.Lys2108Asn) c.6318G>T (p.Lys2106Asn) c.6315G>T (p.Lys2105Asn) c.6210G>T (p.Lys2070Asn) c.6207G>T (p.Lys2069Asn) n.6313G>T n.6299G>T | gnomAD v4 |
11 | g.77211335del | CA645584046 | MYO7A | c.6235del (p.Arg2079GlyfsTer23) c.4036del c.6088del (p.Arg2030GlyfsTer23) c.3661del (p.Arg1221GlyfsTer23) c.6121del (p.Arg2041GlyfsTer23) n.3771del n.25+424del n.1702del c.6118del (p.Arg2040GlyfsTer23) c.6226del (p.Arg2076GlyfsTer23) c.6229del (p.Arg2077GlyfsTer23) c.6202del (p.Arg2068GlyfsTer23) c.6139del (p.Arg2047GlyfsTer23) c.6010del (p.Arg2004GlyfsTer23) c.5998del (p.Arg2000GlyfsTer23) c.5971del (p.Arg1991GlyfsTer23) n.6555del n.6529del c.6325del (p.Arg2109GlyfsTer23) c.6319del (p.Arg2107GlyfsTer23) c.6316del (p.Arg2106GlyfsTer23) c.6211del (p.Arg2071GlyfsTer23) c.6208del (p.Arg2070GlyfsTer23) n.6314del n.6300del | COSMIC |
11 | g.77211335C>A | CA475792081 | MYO7A | c.6235C>A (p.Arg2079=) c.4036C>A c.6088C>A (p.Arg2030=) c.3661C>A (p.Arg1221=) c.6121C>A (p.Arg2041=) n.3771C>A n.25+424C>A n.1702C>A c.6118C>A (p.Arg2040=) c.6226C>A (p.Arg2076=) c.6229C>A (p.Arg2077=) c.6202C>A (p.Arg2068=) c.6139C>A (p.Arg2047=) c.6010C>A (p.Arg2004=) c.5998C>A (p.Arg2000=) c.5971C>A (p.Arg1991=) n.6555C>A n.6529C>A c.6325C>A (p.Arg2109=) c.6319C>A (p.Arg2107=) c.6316C>A (p.Arg2106=) c.6211C>A (p.Arg2071=) c.6208C>A (p.Arg2070=) n.6314C>A n.6300C>A | dbSNP gnomAD v4 |
11 | g.77211335C= | CA1984129918 | MYO7A | c.6235C= (p.Arg2079=) c.4036C= c.6088C= (p.Arg2030=) c.3661C= (p.Arg1221=) c.6121C= (p.Arg2041=) n.3771C= n.25+424C= n.1702C= c.6118C= (p.Arg2040=) c.6226C= (p.Arg2076=) c.6229C= (p.Arg2077=) c.6202C= (p.Arg2068=) c.6139C= (p.Arg2047=) c.6010C= (p.Arg2004=) c.5998C= (p.Arg2000=) c.5971C= (p.Arg1991=) n.6555C= n.6529C= c.6325C= (p.Arg2109=) c.6319C= (p.Arg2107=) c.6316C= (p.Arg2106=) c.6211C= (p.Arg2071=) c.6208C= (p.Arg2070=) n.6314C= n.6300C= | |
11 | g.77211335C>G | CA381936377 | MYO7A | c.6235C>G (p.Arg2079Gly) c.4036C>G c.6088C>G (p.Arg2030Gly) c.3661C>G (p.Arg1221Gly) c.6121C>G (p.Arg2041Gly) n.3771C>G n.25+424C>G n.1702C>G c.6118C>G (p.Arg2040Gly) c.6226C>G (p.Arg2076Gly) c.6229C>G (p.Arg2077Gly) c.6202C>G (p.Arg2068Gly) c.6139C>G (p.Arg2047Gly) c.6010C>G (p.Arg2004Gly) c.5998C>G (p.Arg2000Gly) c.5971C>G (p.Arg1991Gly) n.6555C>G n.6529C>G c.6325C>G (p.Arg2109Gly) c.6319C>G (p.Arg2107Gly) c.6316C>G (p.Arg2106Gly) c.6211C>G (p.Arg2071Gly) c.6208C>G (p.Arg2070Gly) n.6314C>G n.6300C>G | |
11 | g.77211335C>T | CA6198956 | MYO7A | c.6235C>T (p.Arg2079Trp) c.4036C>T c.6088C>T (p.Arg2030Trp) c.3661C>T (p.Arg1221Trp) c.6121C>T (p.Arg2041Trp) n.3771C>T n.25+424C>T n.1702C>T c.6118C>T (p.Arg2040Trp) c.6226C>T (p.Arg2076Trp) c.6229C>T (p.Arg2077Trp) c.6202C>T (p.Arg2068Trp) c.6139C>T (p.Arg2047Trp) c.6010C>T (p.Arg2004Trp) c.5998C>T (p.Arg2000Trp) c.5971C>T (p.Arg1991Trp) n.6555C>T n.6529C>T c.6325C>T (p.Arg2109Trp) c.6319C>T (p.Arg2107Trp) c.6316C>T (p.Arg2106Trp) c.6211C>T (p.Arg2071Trp) c.6208C>T (p.Arg2070Trp) n.6314C>T n.6300C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |