Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.77211223C>A | CA475791950 | MYO7A | c.6123C>A (p.Ile2041=) c.3924C>A c.5976C>A (p.Ile1992=) c.3549C>A (p.Ile1183=) c.6009C>A (p.Ile2003=) n.3659C>A n.25+312C>A n.1590C>A c.6006C>A (p.Ile2002=) c.6114C>A (p.Ile2038=) c.6117C>A (p.Ile2039=) c.6090C>A (p.Ile2030=) c.6027C>A (p.Ile2009=) c.5898C>A (p.Ile1966=) c.5886C>A (p.Ile1962=) c.5859C>A (p.Ile1953=) n.6443C>A n.6417C>A c.6213C>A (p.Ile2071=) c.6207C>A (p.Ile2069=) c.6204C>A (p.Ile2068=) c.6099C>A (p.Ile2033=) c.6096C>A (p.Ile2032=) n.6202C>A n.6143C>A n.6188C>A | gnomAD v4 |
11 | g.77211223C= | CA1984129865 | MYO7A | c.6123C= (p.Ile2041=) c.3924C= c.5976C= (p.Ile1992=) c.3549C= (p.Ile1183=) c.6009C= (p.Ile2003=) n.3659C= n.25+312C= n.1590C= c.6006C= (p.Ile2002=) c.6114C= (p.Ile2038=) c.6117C= (p.Ile2039=) c.6090C= (p.Ile2030=) c.6027C= (p.Ile2009=) c.5898C= (p.Ile1966=) c.5886C= (p.Ile1962=) c.5859C= (p.Ile1953=) n.6443C= n.6417C= c.6213C= (p.Ile2071=) c.6207C= (p.Ile2069=) c.6204C= (p.Ile2068=) c.6099C= (p.Ile2033=) c.6096C= (p.Ile2032=) n.6202C= n.6143C= n.6188C= | |
11 | g.77211223C>G | CA381935823 | MYO7A | c.6123C>G (p.Ile2041Met) c.3924C>G c.5976C>G (p.Ile1992Met) c.3549C>G (p.Ile1183Met) c.6009C>G (p.Ile2003Met) n.3659C>G n.25+312C>G n.1590C>G c.6006C>G (p.Ile2002Met) c.6114C>G (p.Ile2038Met) c.6117C>G (p.Ile2039Met) c.6090C>G (p.Ile2030Met) c.6027C>G (p.Ile2009Met) c.5898C>G (p.Ile1966Met) c.5886C>G (p.Ile1962Met) c.5859C>G (p.Ile1953Met) n.6443C>G n.6417C>G c.6213C>G (p.Ile2071Met) c.6207C>G (p.Ile2069Met) c.6204C>G (p.Ile2068Met) c.6099C>G (p.Ile2033Met) c.6096C>G (p.Ile2032Met) n.6202C>G n.6143C>G n.6188C>G | |
11 | g.77211223C>T | CA6198940 | MYO7A | c.6123C>T (p.Ile2041=) c.3924C>T c.5976C>T (p.Ile1992=) c.3549C>T (p.Ile1183=) c.6009C>T (p.Ile2003=) n.3659C>T n.25+312C>T n.1590C>T c.6006C>T (p.Ile2002=) c.6114C>T (p.Ile2038=) c.6117C>T (p.Ile2039=) c.6090C>T (p.Ile2030=) c.6027C>T (p.Ile2009=) c.5898C>T (p.Ile1966=) c.5886C>T (p.Ile1962=) c.5859C>T (p.Ile1953=) n.6443C>T n.6417C>T c.6213C>T (p.Ile2071=) c.6207C>T (p.Ile2069=) c.6204C>T (p.Ile2068=) c.6099C>T (p.Ile2033=) c.6096C>T (p.Ile2032=) n.6202C>T n.6143C>T n.6188C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77211224T>A | CA381935830 | MYO7A | c.6124T>A (p.Tyr2042Asn) c.3925T>A c.5977T>A (p.Tyr1993Asn) c.3550T>A (p.Tyr1184Asn) c.6010T>A (p.Tyr2004Asn) n.3660T>A n.25+313T>A n.1591T>A c.6007T>A (p.Tyr2003Asn) c.6115T>A (p.Tyr2039Asn) c.6118T>A (p.Tyr2040Asn) c.6091T>A (p.Tyr2031Asn) c.6028T>A (p.Tyr2010Asn) c.5899T>A (p.Tyr1967Asn) c.5887T>A (p.Tyr1963Asn) c.5860T>A (p.Tyr1954Asn) n.6444T>A n.6418T>A c.6214T>A (p.Tyr2072Asn) c.6208T>A (p.Tyr2070Asn) c.6205T>A (p.Tyr2069Asn) c.6100T>A (p.Tyr2034Asn) c.6097T>A (p.Tyr2033Asn) n.6203T>A n.6144T>A n.6189T>A | |
11 | g.77211224T>C | CA381935828 | MYO7A | c.6124T>C (p.Tyr2042His) c.3925T>C c.5977T>C (p.Tyr1993His) c.3550T>C (p.Tyr1184His) c.6010T>C (p.Tyr2004His) n.3660T>C n.25+313T>C n.1591T>C c.6007T>C (p.Tyr2003His) c.6115T>C (p.Tyr2039His) c.6118T>C (p.Tyr2040His) c.6091T>C (p.Tyr2031His) c.6028T>C (p.Tyr2010His) c.5899T>C (p.Tyr1967His) c.5887T>C (p.Tyr1963His) c.5860T>C (p.Tyr1954His) n.6444T>C n.6418T>C c.6214T>C (p.Tyr2072His) c.6208T>C (p.Tyr2070His) c.6205T>C (p.Tyr2069His) c.6100T>C (p.Tyr2034His) c.6097T>C (p.Tyr2033His) n.6203T>C n.6144T>C n.6189T>C | |
11 | g.77211224T>G | CA381935825 | MYO7A | c.6124T>G (p.Tyr2042Asp) c.3925T>G c.5977T>G (p.Tyr1993Asp) c.3550T>G (p.Tyr1184Asp) c.6010T>G (p.Tyr2004Asp) n.3660T>G n.25+313T>G n.1591T>G c.6007T>G (p.Tyr2003Asp) c.6115T>G (p.Tyr2039Asp) c.6118T>G (p.Tyr2040Asp) c.6091T>G (p.Tyr2031Asp) c.6028T>G (p.Tyr2010Asp) c.5899T>G (p.Tyr1967Asp) c.5887T>G (p.Tyr1963Asp) c.5860T>G (p.Tyr1954Asp) n.6444T>G n.6418T>G c.6214T>G (p.Tyr2072Asp) c.6208T>G (p.Tyr2070Asp) c.6205T>G (p.Tyr2069Asp) c.6100T>G (p.Tyr2034Asp) c.6097T>G (p.Tyr2033Asp) n.6203T>G n.6144T>G n.6189T>G | |
11 | g.77211224dup | CA2740093151 | MYO7A | c.6124dup (p.Tyr2042LeufsTer?) c.3925dup c.5977dup (p.Tyr1993LeufsTer?) c.3550dup (p.Tyr1184LeufsTer?) c.6010dup (p.Tyr2004LeufsTer?) n.3660dup n.25+313dup n.1591dup c.6007dup (p.Tyr2003LeufsTer?) c.6115dup (p.Tyr2039LeufsTer?) c.6118dup (p.Tyr2040LeufsTer?) c.6091dup (p.Tyr2031LeufsTer?) c.6028dup (p.Tyr2010LeufsTer?) c.5899dup (p.Tyr1967LeufsTer?) c.5887dup (p.Tyr1963LeufsTer?) c.5860dup (p.Tyr1954LeufsTer?) n.6444dup n.6418dup c.6214dup (p.Tyr2072LeufsTer?) c.6208dup (p.Tyr2070LeufsTer?) c.6205dup (p.Tyr2069LeufsTer?) c.6100dup (p.Tyr2034LeufsTer?) c.6097dup (p.Tyr2033LeufsTer?) n.6203dup n.6144dup n.6189dup | ClinVar |
11 | g.77211225A>C | CA381935833 | MYO7A | c.6125A>C (p.Tyr2042Ser) c.3926A>C c.5978A>C (p.Tyr1993Ser) c.3551A>C (p.Tyr1184Ser) c.6011A>C (p.Tyr2004Ser) n.3661A>C n.25+314A>C n.1592A>C c.6008A>C (p.Tyr2003Ser) c.6116A>C (p.Tyr2039Ser) c.6119A>C (p.Tyr2040Ser) c.6092A>C (p.Tyr2031Ser) c.6029A>C (p.Tyr2010Ser) c.5900A>C (p.Tyr1967Ser) c.5888A>C (p.Tyr1963Ser) c.5861A>C (p.Tyr1954Ser) n.6445A>C n.6419A>C c.6215A>C (p.Tyr2072Ser) c.6209A>C (p.Tyr2070Ser) c.6206A>C (p.Tyr2069Ser) c.6101A>C (p.Tyr2034Ser) c.6098A>C (p.Tyr2033Ser) n.6204A>C n.6145A>C n.6190A>C | |
11 | g.77211225A>G | CA381935836 | MYO7A | c.6125A>G (p.Tyr2042Cys) c.3926A>G c.5978A>G (p.Tyr1993Cys) c.3551A>G (p.Tyr1184Cys) c.6011A>G (p.Tyr2004Cys) n.3661A>G n.25+314A>G n.1592A>G c.6008A>G (p.Tyr2003Cys) c.6116A>G (p.Tyr2039Cys) c.6119A>G (p.Tyr2040Cys) c.6092A>G (p.Tyr2031Cys) c.6029A>G (p.Tyr2010Cys) c.5900A>G (p.Tyr1967Cys) c.5888A>G (p.Tyr1963Cys) c.5861A>G (p.Tyr1954Cys) n.6445A>G n.6419A>G c.6215A>G (p.Tyr2072Cys) c.6209A>G (p.Tyr2070Cys) c.6206A>G (p.Tyr2069Cys) c.6101A>G (p.Tyr2034Cys) c.6098A>G (p.Tyr2033Cys) n.6204A>G n.6145A>G n.6190A>G | gnomAD v4 |
11 | g.77211225A>T | CA381935838 | MYO7A | c.6125A>T (p.Tyr2042Phe) c.3926A>T c.5978A>T (p.Tyr1993Phe) c.3551A>T (p.Tyr1184Phe) c.6011A>T (p.Tyr2004Phe) n.3661A>T n.25+314A>T n.1592A>T c.6008A>T (p.Tyr2003Phe) c.6116A>T (p.Tyr2039Phe) c.6119A>T (p.Tyr2040Phe) c.6092A>T (p.Tyr2031Phe) c.6029A>T (p.Tyr2010Phe) c.5900A>T (p.Tyr1967Phe) c.5888A>T (p.Tyr1963Phe) c.5861A>T (p.Tyr1954Phe) n.6445A>T n.6419A>T c.6215A>T (p.Tyr2072Phe) c.6209A>T (p.Tyr2070Phe) c.6206A>T (p.Tyr2069Phe) c.6101A>T (p.Tyr2034Phe) c.6098A>T (p.Tyr2033Phe) n.6204A>T n.6145A>T n.6190A>T | |
11 | g.77211226C>A | CA381935841 | MYO7A | c.6126C>A (p.Tyr2042Ter) c.3927C>A c.5979C>A (p.Tyr1993Ter) c.3552C>A (p.Tyr1184Ter) c.6012C>A (p.Tyr2004Ter) n.3662C>A n.25+315C>A n.1593C>A c.6009C>A (p.Tyr2003Ter) c.6117C>A (p.Tyr2039Ter) c.6120C>A (p.Tyr2040Ter) c.6093C>A (p.Tyr2031Ter) c.6030C>A (p.Tyr2010Ter) c.5901C>A (p.Tyr1967Ter) c.5889C>A (p.Tyr1963Ter) c.5862C>A (p.Tyr1954Ter) n.6446C>A n.6420C>A c.6216C>A (p.Tyr2072Ter) c.6210C>A (p.Tyr2070Ter) c.6207C>A (p.Tyr2069Ter) c.6102C>A (p.Tyr2034Ter) c.6099C>A (p.Tyr2033Ter) n.6205C>A n.6146C>A n.6191C>A | gnomAD v4 |
11 | g.77211226C= | CA1984129866 | MYO7A | c.6126C= (p.Tyr2042=) c.3927C= c.5979C= (p.Tyr1993=) c.3552C= (p.Tyr1184=) c.6012C= (p.Tyr2004=) n.3662C= n.25+315C= n.1593C= c.6009C= (p.Tyr2003=) c.6117C= (p.Tyr2039=) c.6120C= (p.Tyr2040=) c.6093C= (p.Tyr2031=) c.6030C= (p.Tyr2010=) c.5901C= (p.Tyr1967=) c.5889C= (p.Tyr1963=) c.5862C= (p.Tyr1954=) n.6446C= n.6420C= c.6216C= (p.Tyr2072=) c.6210C= (p.Tyr2070=) c.6207C= (p.Tyr2069=) c.6102C= (p.Tyr2034=) c.6099C= (p.Tyr2033=) n.6205C= n.6146C= n.6191C= | |
11 | g.77211226C>G | CA381935843 | MYO7A | c.6126C>G (p.Tyr2042Ter) c.3927C>G c.5979C>G (p.Tyr1993Ter) c.3552C>G (p.Tyr1184Ter) c.6012C>G (p.Tyr2004Ter) n.3662C>G n.25+315C>G n.1593C>G c.6009C>G (p.Tyr2003Ter) c.6117C>G (p.Tyr2039Ter) c.6120C>G (p.Tyr2040Ter) c.6093C>G (p.Tyr2031Ter) c.6030C>G (p.Tyr2010Ter) c.5901C>G (p.Tyr1967Ter) c.5889C>G (p.Tyr1963Ter) c.5862C>G (p.Tyr1954Ter) n.6446C>G n.6420C>G c.6216C>G (p.Tyr2072Ter) c.6210C>G (p.Tyr2070Ter) c.6207C>G (p.Tyr2069Ter) c.6102C>G (p.Tyr2034Ter) c.6099C>G (p.Tyr2033Ter) n.6205C>G n.6146C>G n.6191C>G | ClinVar dbSNP gnomAD v4 |
11 | g.77211226C>T | CA475791954 | MYO7A | c.6126C>T (p.Tyr2042=) c.3927C>T c.5979C>T (p.Tyr1993=) c.3552C>T (p.Tyr1184=) c.6012C>T (p.Tyr2004=) n.3662C>T n.25+315C>T n.1593C>T c.6009C>T (p.Tyr2003=) c.6117C>T (p.Tyr2039=) c.6120C>T (p.Tyr2040=) c.6093C>T (p.Tyr2031=) c.6030C>T (p.Tyr2010=) c.5901C>T (p.Tyr1967=) c.5889C>T (p.Tyr1963=) c.5862C>T (p.Tyr1954=) n.6446C>T n.6420C>T c.6216C>T (p.Tyr2072=) c.6210C>T (p.Tyr2070=) c.6207C>T (p.Tyr2069=) c.6102C>T (p.Tyr2034=) c.6099C>T (p.Tyr2033=) n.6205C>T n.6146C>T n.6191C>T | ClinVar dbSNP gnomAD v4 |
11 | g.77211227A= | CA1984129867 | MYO7A | c.6127A= (p.Arg2043=) c.3928A= c.5980A= (p.Arg1994=) c.3553A= (p.Arg1185=) c.6013A= (p.Arg2005=) n.3663A= n.25+316A= n.1594A= c.6010A= (p.Arg2004=) c.6118A= (p.Arg2040=) c.6121A= (p.Arg2041=) c.6094A= (p.Arg2032=) c.6031A= (p.Arg2011=) c.5902A= (p.Arg1968=) c.5890A= (p.Arg1964=) c.5863A= (p.Arg1955=) n.6447A= n.6421A= c.6217A= (p.Arg2073=) c.6211A= (p.Arg2071=) c.6208A= (p.Arg2070=) c.6103A= (p.Arg2035=) c.6100A= (p.Arg2034=) n.6206A= n.6147A= n.6192A= | |
11 | g.77211227A>C | CA475791956 | MYO7A | c.6127A>C (p.Arg2043=) c.3928A>C c.5980A>C (p.Arg1994=) c.3553A>C (p.Arg1185=) c.6013A>C (p.Arg2005=) n.3663A>C n.25+316A>C n.1594A>C c.6010A>C (p.Arg2004=) c.6118A>C (p.Arg2040=) c.6121A>C (p.Arg2041=) c.6094A>C (p.Arg2032=) c.6031A>C (p.Arg2011=) c.5902A>C (p.Arg1968=) c.5890A>C (p.Arg1964=) c.5863A>C (p.Arg1955=) n.6447A>C n.6421A>C c.6217A>C (p.Arg2073=) c.6211A>C (p.Arg2071=) c.6208A>C (p.Arg2070=) c.6103A>C (p.Arg2035=) c.6100A>C (p.Arg2034=) n.6206A>C n.6147A>C n.6192A>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.77211227A>G | CA381935846 | MYO7A | c.6127A>G (p.Arg2043Gly) c.3928A>G c.5980A>G (p.Arg1994Gly) c.3553A>G (p.Arg1185Gly) c.6013A>G (p.Arg2005Gly) n.3663A>G n.25+316A>G n.1594A>G c.6010A>G (p.Arg2004Gly) c.6118A>G (p.Arg2040Gly) c.6121A>G (p.Arg2041Gly) c.6094A>G (p.Arg2032Gly) c.6031A>G (p.Arg2011Gly) c.5902A>G (p.Arg1968Gly) c.5890A>G (p.Arg1964Gly) c.5863A>G (p.Arg1955Gly) n.6447A>G n.6421A>G c.6217A>G (p.Arg2073Gly) c.6211A>G (p.Arg2071Gly) c.6208A>G (p.Arg2070Gly) c.6103A>G (p.Arg2035Gly) c.6100A>G (p.Arg2034Gly) n.6206A>G n.6147A>G n.6192A>G | |
11 | g.77211227A>T | CA381935848 | MYO7A | c.6127A>T (p.Arg2043Trp) c.3928A>T c.5980A>T (p.Arg1994Trp) c.3553A>T (p.Arg1185Trp) c.6013A>T (p.Arg2005Trp) n.3663A>T n.25+316A>T n.1594A>T c.6010A>T (p.Arg2004Trp) c.6118A>T (p.Arg2040Trp) c.6121A>T (p.Arg2041Trp) c.6094A>T (p.Arg2032Trp) c.6031A>T (p.Arg2011Trp) c.5902A>T (p.Arg1968Trp) c.5890A>T (p.Arg1964Trp) c.5863A>T (p.Arg1955Trp) n.6447A>T n.6421A>T c.6217A>T (p.Arg2073Trp) c.6211A>T (p.Arg2071Trp) c.6208A>T (p.Arg2070Trp) c.6103A>T (p.Arg2035Trp) c.6100A>T (p.Arg2034Trp) n.6206A>T n.6147A>T n.6192A>T | |
11 | g.77211228G>A | CA381935851 | MYO7A | c.6128G>A (p.Arg2043Lys) c.3929G>A c.5981G>A (p.Arg1994Lys) c.3554G>A (p.Arg1185Lys) c.6014G>A (p.Arg2005Lys) n.3664G>A n.25+317G>A n.1595G>A c.6011G>A (p.Arg2004Lys) c.6119G>A (p.Arg2040Lys) c.6122G>A (p.Arg2041Lys) c.6095G>A (p.Arg2032Lys) c.6032G>A (p.Arg2011Lys) c.5903G>A (p.Arg1968Lys) c.5891G>A (p.Arg1964Lys) c.5864G>A (p.Arg1955Lys) n.6448G>A n.6422G>A c.6218G>A (p.Arg2073Lys) c.6212G>A (p.Arg2071Lys) c.6209G>A (p.Arg2070Lys) c.6104G>A (p.Arg2035Lys) c.6101G>A (p.Arg2034Lys) n.6207G>A n.6148G>A n.6193G>A | |
11 | g.77211228G>C | CA381935853 | MYO7A | c.6128G>C (p.Arg2043Thr) c.3929G>C c.5981G>C (p.Arg1994Thr) c.3554G>C (p.Arg1185Thr) c.6014G>C (p.Arg2005Thr) n.3664G>C n.25+317G>C n.1595G>C c.6011G>C (p.Arg2004Thr) c.6119G>C (p.Arg2040Thr) c.6122G>C (p.Arg2041Thr) c.6095G>C (p.Arg2032Thr) c.6032G>C (p.Arg2011Thr) c.5903G>C (p.Arg1968Thr) c.5891G>C (p.Arg1964Thr) c.5864G>C (p.Arg1955Thr) n.6448G>C n.6422G>C c.6218G>C (p.Arg2073Thr) c.6212G>C (p.Arg2071Thr) c.6209G>C (p.Arg2070Thr) c.6104G>C (p.Arg2035Thr) c.6101G>C (p.Arg2034Thr) n.6207G>C n.6148G>C n.6193G>C | ClinVar dbSNP |
11 | g.77211228G= | CA1984129868 | MYO7A | c.6128G= (p.Arg2043=) c.3929G= c.5981G= (p.Arg1994=) c.3554G= (p.Arg1185=) c.6014G= (p.Arg2005=) n.3664G= n.25+317G= n.1595G= c.6011G= (p.Arg2004=) c.6119G= (p.Arg2040=) c.6122G= (p.Arg2041=) c.6095G= (p.Arg2032=) c.6032G= (p.Arg2011=) c.5903G= (p.Arg1968=) c.5891G= (p.Arg1964=) c.5864G= (p.Arg1955=) n.6448G= n.6422G= c.6218G= (p.Arg2073=) c.6212G= (p.Arg2071=) c.6209G= (p.Arg2070=) c.6104G= (p.Arg2035=) c.6101G= (p.Arg2034=) n.6207G= n.6148G= n.6193G= | |
11 | g.77211228G>T | CA381935855 | MYO7A | c.6128G>T (p.Arg2043Met) c.3929G>T c.5981G>T (p.Arg1994Met) c.3554G>T (p.Arg1185Met) c.6014G>T (p.Arg2005Met) n.3664G>T n.25+317G>T n.1595G>T c.6011G>T (p.Arg2004Met) c.6119G>T (p.Arg2040Met) c.6122G>T (p.Arg2041Met) c.6095G>T (p.Arg2032Met) c.6032G>T (p.Arg2011Met) c.5903G>T (p.Arg1968Met) c.5891G>T (p.Arg1964Met) c.5864G>T (p.Arg1955Met) n.6448G>T n.6422G>T c.6218G>T (p.Arg2073Met) c.6212G>T (p.Arg2071Met) c.6209G>T (p.Arg2070Met) c.6104G>T (p.Arg2035Met) c.6101G>T (p.Arg2034Met) n.6207G>T n.6148G>T n.6193G>T | |
11 | g.77211230del | CA2580084906 | MYO7A | c.6130del (p.Val2044SerfsTer?) c.3931del c.5983del (p.Val1995SerfsTer?) c.3556del (p.Val1186SerfsTer?) c.6016del (p.Val2006SerfsTer?) n.3666del n.25+319del n.1597del c.6013del (p.Val2005SerfsTer?) c.6121del (p.Val2041SerfsTer?) c.6124del (p.Val2042SerfsTer?) c.6097del (p.Val2033SerfsTer?) c.6034del (p.Val2012SerfsTer?) c.5905del (p.Val1969SerfsTer?) c.5893del (p.Val1965SerfsTer?) c.5866del (p.Val1956SerfsTer?) n.6450del n.6424del c.6220del (p.Val2074SerfsTer?) c.6214del (p.Val2072SerfsTer?) c.6211del (p.Val2071SerfsTer?) c.6106del (p.Val2036SerfsTer?) c.6103del (p.Val2035SerfsTer?) n.6209del n.6150del n.6195del | ClinVar |
11 | g.77211229G>A | CA475791957 | MYO7A | c.6129G>A (p.Arg2043=) c.3930G>A c.5982G>A (p.Arg1994=) c.3555G>A (p.Arg1185=) c.6015G>A (p.Arg2005=) n.3665G>A n.25+318G>A n.1596G>A c.6012G>A (p.Arg2004=) c.6120G>A (p.Arg2040=) c.6123G>A (p.Arg2041=) c.6096G>A (p.Arg2032=) c.6033G>A (p.Arg2011=) c.5904G>A (p.Arg1968=) c.5892G>A (p.Arg1964=) c.5865G>A (p.Arg1955=) n.6449G>A n.6423G>A c.6219G>A (p.Arg2073=) c.6213G>A (p.Arg2071=) c.6210G>A (p.Arg2070=) c.6105G>A (p.Arg2035=) c.6102G>A (p.Arg2034=) n.6208G>A n.6149G>A n.6194G>A | gnomAD v4 |
11 | g.77211229G>C | CA381935858 | MYO7A | c.6129G>C (p.Arg2043Ser) c.3930G>C c.5982G>C (p.Arg1994Ser) c.3555G>C (p.Arg1185Ser) c.6015G>C (p.Arg2005Ser) n.3665G>C n.25+318G>C n.1596G>C c.6012G>C (p.Arg2004Ser) c.6120G>C (p.Arg2040Ser) c.6123G>C (p.Arg2041Ser) c.6096G>C (p.Arg2032Ser) c.6033G>C (p.Arg2011Ser) c.5904G>C (p.Arg1968Ser) c.5892G>C (p.Arg1964Ser) c.5865G>C (p.Arg1955Ser) n.6449G>C n.6423G>C c.6219G>C (p.Arg2073Ser) c.6213G>C (p.Arg2071Ser) c.6210G>C (p.Arg2070Ser) c.6105G>C (p.Arg2035Ser) c.6102G>C (p.Arg2034Ser) n.6208G>C n.6149G>C n.6194G>C | |
11 | g.77211229G= | CA1984129869 | MYO7A | c.6129G= (p.Arg2043=) c.3930G= c.5982G= (p.Arg1994=) c.3555G= (p.Arg1185=) c.6015G= (p.Arg2005=) n.3665G= n.25+318G= n.1596G= c.6012G= (p.Arg2004=) c.6120G= (p.Arg2040=) c.6123G= (p.Arg2041=) c.6096G= (p.Arg2032=) c.6033G= (p.Arg2011=) c.5904G= (p.Arg1968=) c.5892G= (p.Arg1964=) c.5865G= (p.Arg1955=) n.6449G= n.6423G= c.6219G= (p.Arg2073=) c.6213G= (p.Arg2071=) c.6210G= (p.Arg2070=) c.6105G= (p.Arg2035=) c.6102G= (p.Arg2034=) n.6208G= n.6149G= n.6194G= | |
11 | g.77211229G>T | CA381935859 | MYO7A | c.6129G>T (p.Arg2043Ser) c.3930G>T c.5982G>T (p.Arg1994Ser) c.3555G>T (p.Arg1185Ser) c.6015G>T (p.Arg2005Ser) n.3665G>T n.25+318G>T n.1596G>T c.6012G>T (p.Arg2004Ser) c.6120G>T (p.Arg2040Ser) c.6123G>T (p.Arg2041Ser) c.6096G>T (p.Arg2032Ser) c.6033G>T (p.Arg2011Ser) c.5904G>T (p.Arg1968Ser) c.5892G>T (p.Arg1964Ser) c.5865G>T (p.Arg1955Ser) n.6449G>T n.6423G>T c.6219G>T (p.Arg2073Ser) c.6213G>T (p.Arg2071Ser) c.6210G>T (p.Arg2070Ser) c.6105G>T (p.Arg2035Ser) c.6102G>T (p.Arg2034Ser) n.6208G>T n.6149G>T n.6194G>T | dbSNP |
11 | g.77211230G>A | CA381935864 | MYO7A | c.6130G>A (p.Val2044Ile) c.3931G>A c.5983G>A (p.Val1995Ile) c.3556G>A (p.Val1186Ile) c.6016G>A (p.Val2006Ile) n.3666G>A n.25+319G>A n.1597G>A c.6013G>A (p.Val2005Ile) c.6121G>A (p.Val2041Ile) c.6124G>A (p.Val2042Ile) c.6097G>A (p.Val2033Ile) c.6034G>A (p.Val2012Ile) c.5905G>A (p.Val1969Ile) c.5893G>A (p.Val1965Ile) c.5866G>A (p.Val1956Ile) n.6450G>A n.6424G>A c.6220G>A (p.Val2074Ile) c.6214G>A (p.Val2072Ile) c.6211G>A (p.Val2071Ile) c.6106G>A (p.Val2036Ile) c.6103G>A (p.Val2035Ile) n.6209G>A n.6150G>A n.6195G>A | gnomAD v4 |
11 | g.77211230G>C | CA381935866 | MYO7A | c.6130G>C (p.Val2044Leu) c.3931G>C c.5983G>C (p.Val1995Leu) c.3556G>C (p.Val1186Leu) c.6016G>C (p.Val2006Leu) n.3666G>C n.25+319G>C n.1597G>C c.6013G>C (p.Val2005Leu) c.6121G>C (p.Val2041Leu) c.6124G>C (p.Val2042Leu) c.6097G>C (p.Val2033Leu) c.6034G>C (p.Val2012Leu) c.5905G>C (p.Val1969Leu) c.5893G>C (p.Val1965Leu) c.5866G>C (p.Val1956Leu) n.6450G>C n.6424G>C c.6220G>C (p.Val2074Leu) c.6214G>C (p.Val2072Leu) c.6211G>C (p.Val2071Leu) c.6106G>C (p.Val2036Leu) c.6103G>C (p.Val2035Leu) n.6209G>C n.6150G>C n.6195G>C | |
11 | g.77211230G>T | CA381935862 | MYO7A | c.6130G>T (p.Val2044Phe) c.3931G>T c.5983G>T (p.Val1995Phe) c.3556G>T (p.Val1186Phe) c.6016G>T (p.Val2006Phe) n.3666G>T n.25+319G>T n.1597G>T c.6013G>T (p.Val2005Phe) c.6121G>T (p.Val2041Phe) c.6124G>T (p.Val2042Phe) c.6097G>T (p.Val2033Phe) c.6034G>T (p.Val2012Phe) c.5905G>T (p.Val1969Phe) c.5893G>T (p.Val1965Phe) c.5866G>T (p.Val1956Phe) n.6450G>T n.6424G>T c.6220G>T (p.Val2074Phe) c.6214G>T (p.Val2072Phe) c.6211G>T (p.Val2071Phe) c.6106G>T (p.Val2036Phe) c.6103G>T (p.Val2035Phe) n.6209G>T n.6150G>T n.6195G>T | gnomAD v4 |
11 | g.77211231T>A | CA381935870 | MYO7A | c.6131T>A (p.Val2044Asp) c.3932T>A c.5984T>A (p.Val1995Asp) c.3557T>A (p.Val1186Asp) c.6017T>A (p.Val2006Asp) n.3667T>A n.25+320T>A n.1598T>A c.6014T>A (p.Val2005Asp) c.6122T>A (p.Val2041Asp) c.6125T>A (p.Val2042Asp) c.6098T>A (p.Val2033Asp) c.6035T>A (p.Val2012Asp) c.5906T>A (p.Val1969Asp) c.5894T>A (p.Val1965Asp) c.5867T>A (p.Val1956Asp) n.6451T>A n.6425T>A c.6221T>A (p.Val2074Asp) c.6215T>A (p.Val2072Asp) c.6212T>A (p.Val2071Asp) c.6107T>A (p.Val2036Asp) c.6104T>A (p.Val2035Asp) n.6210T>A n.6151T>A n.6196T>A | |
11 | g.77211231T>C | CA381935872 | MYO7A | c.6131T>C (p.Val2044Ala) c.3932T>C c.5984T>C (p.Val1995Ala) c.3557T>C (p.Val1186Ala) c.6017T>C (p.Val2006Ala) n.3667T>C n.25+320T>C n.1598T>C c.6014T>C (p.Val2005Ala) c.6122T>C (p.Val2041Ala) c.6125T>C (p.Val2042Ala) c.6098T>C (p.Val2033Ala) c.6035T>C (p.Val2012Ala) c.5906T>C (p.Val1969Ala) c.5894T>C (p.Val1965Ala) c.5867T>C (p.Val1956Ala) n.6451T>C n.6425T>C c.6221T>C (p.Val2074Ala) c.6215T>C (p.Val2072Ala) c.6212T>C (p.Val2071Ala) c.6107T>C (p.Val2036Ala) c.6104T>C (p.Val2035Ala) n.6210T>C n.6151T>C n.6196T>C | gnomAD v4 |
11 | g.77211231T>G | CA381935873 | MYO7A | c.6131T>G (p.Val2044Gly) c.3932T>G c.5984T>G (p.Val1995Gly) c.3557T>G (p.Val1186Gly) c.6017T>G (p.Val2006Gly) n.3667T>G n.25+320T>G n.1598T>G c.6014T>G (p.Val2005Gly) c.6122T>G (p.Val2041Gly) c.6125T>G (p.Val2042Gly) c.6098T>G (p.Val2033Gly) c.6035T>G (p.Val2012Gly) c.5906T>G (p.Val1969Gly) c.5894T>G (p.Val1965Gly) c.5867T>G (p.Val1956Gly) n.6451T>G n.6425T>G c.6221T>G (p.Val2074Gly) c.6215T>G (p.Val2072Gly) c.6212T>G (p.Val2071Gly) c.6107T>G (p.Val2036Gly) c.6104T>G (p.Val2035Gly) n.6210T>G n.6151T>G n.6196T>G | |
11 | g.77211232C>A | CA475791961 | MYO7A | c.6132C>A (p.Val2044=) c.3933C>A c.5985C>A (p.Val1995=) c.3558C>A (p.Val1186=) c.6018C>A (p.Val2006=) n.3668C>A n.25+321C>A n.1599C>A c.6015C>A (p.Val2005=) c.6123C>A (p.Val2041=) c.6126C>A (p.Val2042=) c.6099C>A (p.Val2033=) c.6036C>A (p.Val2012=) c.5907C>A (p.Val1969=) c.5895C>A (p.Val1965=) c.5868C>A (p.Val1956=) n.6452C>A n.6426C>A c.6222C>A (p.Val2074=) c.6216C>A (p.Val2072=) c.6213C>A (p.Val2071=) c.6108C>A (p.Val2036=) c.6105C>A (p.Val2035=) n.6211C>A n.6152C>A n.6197C>A | gnomAD v4 |
11 | g.77211232C>G | CA475791963 | MYO7A | c.6132C>G (p.Val2044=) c.3933C>G c.5985C>G (p.Val1995=) c.3558C>G (p.Val1186=) c.6018C>G (p.Val2006=) n.3668C>G n.25+321C>G n.1599C>G c.6015C>G (p.Val2005=) c.6123C>G (p.Val2041=) c.6126C>G (p.Val2042=) c.6099C>G (p.Val2033=) c.6036C>G (p.Val2012=) c.5907C>G (p.Val1969=) c.5895C>G (p.Val1965=) c.5868C>G (p.Val1956=) n.6452C>G n.6426C>G c.6222C>G (p.Val2074=) c.6216C>G (p.Val2072=) c.6213C>G (p.Val2071=) c.6108C>G (p.Val2036=) c.6105C>G (p.Val2035=) n.6211C>G n.6152C>G n.6197C>G | |
11 | g.77211232C>T | CA475791964 | MYO7A | c.6132C>T (p.Val2044=) c.3933C>T c.5985C>T (p.Val1995=) c.3558C>T (p.Val1186=) c.6018C>T (p.Val2006=) n.3668C>T n.25+321C>T n.1599C>T c.6015C>T (p.Val2005=) c.6123C>T (p.Val2041=) c.6126C>T (p.Val2042=) c.6099C>T (p.Val2033=) c.6036C>T (p.Val2012=) c.5907C>T (p.Val1969=) c.5895C>T (p.Val1965=) c.5868C>T (p.Val1956=) n.6452C>T n.6426C>T c.6222C>T (p.Val2074=) c.6216C>T (p.Val2072=) c.6213C>T (p.Val2071=) c.6108C>T (p.Val2036=) c.6105C>T (p.Val2035=) n.6211C>T n.6152C>T n.6197C>T | |
11 | g.77211233A>C | CA381935874 | MYO7A | c.6133A>C (p.Lys2045Gln) c.3934A>C c.5986A>C (p.Lys1996Gln) c.3559A>C (p.Lys1187Gln) c.6019A>C (p.Lys2007Gln) n.3669A>C n.25+322A>C n.1600A>C c.6016A>C (p.Lys2006Gln) c.6124A>C (p.Lys2042Gln) c.6127A>C (p.Lys2043Gln) c.6100A>C (p.Lys2034Gln) c.6037A>C (p.Lys2013Gln) c.5908A>C (p.Lys1970Gln) c.5896A>C (p.Lys1966Gln) c.5869A>C (p.Lys1957Gln) n.6453A>C n.6427A>C c.6223A>C (p.Lys2075Gln) c.6217A>C (p.Lys2073Gln) c.6214A>C (p.Lys2072Gln) c.6109A>C (p.Lys2037Gln) c.6106A>C (p.Lys2036Gln) n.6212A>C n.6153A>C n.6198A>C | |
11 | g.77211233A>G | CA381935875 | MYO7A | c.6133A>G (p.Lys2045Glu) c.3934A>G c.5986A>G (p.Lys1996Glu) c.3559A>G (p.Lys1187Glu) c.6019A>G (p.Lys2007Glu) n.3669A>G n.25+322A>G n.1600A>G c.6016A>G (p.Lys2006Glu) c.6124A>G (p.Lys2042Glu) c.6127A>G (p.Lys2043Glu) c.6100A>G (p.Lys2034Glu) c.6037A>G (p.Lys2013Glu) c.5908A>G (p.Lys1970Glu) c.5896A>G (p.Lys1966Glu) c.5869A>G (p.Lys1957Glu) n.6453A>G n.6427A>G c.6223A>G (p.Lys2075Glu) c.6217A>G (p.Lys2073Glu) c.6214A>G (p.Lys2072Glu) c.6109A>G (p.Lys2037Glu) c.6106A>G (p.Lys2036Glu) n.6212A>G n.6153A>G n.6198A>G | gnomAD v4 |
11 | g.77211233A>T | CA381935876 | MYO7A | c.6133A>T (p.Lys2045Ter) c.3934A>T c.5986A>T (p.Lys1996Ter) c.3559A>T (p.Lys1187Ter) c.6019A>T (p.Lys2007Ter) n.3669A>T n.25+322A>T n.1600A>T c.6016A>T (p.Lys2006Ter) c.6124A>T (p.Lys2042Ter) c.6127A>T (p.Lys2043Ter) c.6100A>T (p.Lys2034Ter) c.6037A>T (p.Lys2013Ter) c.5908A>T (p.Lys1970Ter) c.5896A>T (p.Lys1966Ter) c.5869A>T (p.Lys1957Ter) n.6453A>T n.6427A>T c.6223A>T (p.Lys2075Ter) c.6217A>T (p.Lys2073Ter) c.6214A>T (p.Lys2072Ter) c.6109A>T (p.Lys2037Ter) c.6106A>T (p.Lys2036Ter) n.6212A>T n.6153A>T n.6198A>T | |
11 | g.77211234A= | CA1984129870 | MYO7A | c.6134A= (p.Lys2045=) c.3935A= c.5987A= (p.Lys1996=) c.3560A= (p.Lys1187=) c.6020A= (p.Lys2007=) n.3670A= n.25+323A= n.1601A= c.6017A= (p.Lys2006=) c.6125A= (p.Lys2042=) c.6128A= (p.Lys2043=) c.6101A= (p.Lys2034=) c.6038A= (p.Lys2013=) c.5909A= (p.Lys1970=) c.5897A= (p.Lys1966=) c.5870A= (p.Lys1957=) n.6454A= n.6428A= c.6224A= (p.Lys2075=) c.6218A= (p.Lys2073=) c.6215A= (p.Lys2072=) c.6110A= (p.Lys2037=) c.6107A= (p.Lys2036=) n.6213A= n.6154A= n.6199A= | |
11 | g.77211234A>C | CA381935877 | MYO7A | c.6134A>C (p.Lys2045Thr) c.3935A>C c.5987A>C (p.Lys1996Thr) c.3560A>C (p.Lys1187Thr) c.6020A>C (p.Lys2007Thr) n.3670A>C n.25+323A>C n.1601A>C c.6017A>C (p.Lys2006Thr) c.6125A>C (p.Lys2042Thr) c.6128A>C (p.Lys2043Thr) c.6101A>C (p.Lys2034Thr) c.6038A>C (p.Lys2013Thr) c.5909A>C (p.Lys1970Thr) c.5897A>C (p.Lys1966Thr) c.5870A>C (p.Lys1957Thr) n.6454A>C n.6428A>C c.6224A>C (p.Lys2075Thr) c.6218A>C (p.Lys2073Thr) c.6215A>C (p.Lys2072Thr) c.6110A>C (p.Lys2037Thr) c.6107A>C (p.Lys2036Thr) n.6213A>C n.6154A>C n.6199A>C | |
11 | g.77211234A>G | CA381935879 | MYO7A | c.6134A>G (p.Lys2045Arg) c.3935A>G c.5987A>G (p.Lys1996Arg) c.3560A>G (p.Lys1187Arg) c.6020A>G (p.Lys2007Arg) n.3670A>G n.25+323A>G n.1601A>G c.6017A>G (p.Lys2006Arg) c.6125A>G (p.Lys2042Arg) c.6128A>G (p.Lys2043Arg) c.6101A>G (p.Lys2034Arg) c.6038A>G (p.Lys2013Arg) c.5909A>G (p.Lys1970Arg) c.5897A>G (p.Lys1966Arg) c.5870A>G (p.Lys1957Arg) n.6454A>G n.6428A>G c.6224A>G (p.Lys2075Arg) c.6218A>G (p.Lys2073Arg) c.6215A>G (p.Lys2072Arg) c.6110A>G (p.Lys2037Arg) c.6107A>G (p.Lys2036Arg) n.6213A>G n.6154A>G n.6199A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.77211234A>T | CA381935878 | MYO7A | c.6134A>T (p.Lys2045Met) c.3935A>T c.5987A>T (p.Lys1996Met) c.3560A>T (p.Lys1187Met) c.6020A>T (p.Lys2007Met) n.3670A>T n.25+323A>T n.1601A>T c.6017A>T (p.Lys2006Met) c.6125A>T (p.Lys2042Met) c.6128A>T (p.Lys2043Met) c.6101A>T (p.Lys2034Met) c.6038A>T (p.Lys2013Met) c.5909A>T (p.Lys1970Met) c.5897A>T (p.Lys1966Met) c.5870A>T (p.Lys1957Met) n.6454A>T n.6428A>T c.6224A>T (p.Lys2075Met) c.6218A>T (p.Lys2073Met) c.6215A>T (p.Lys2072Met) c.6110A>T (p.Lys2037Met) c.6107A>T (p.Lys2036Met) n.6213A>T n.6154A>T n.6199A>T | |
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 |