Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.77211218C>A | CA381935800 | MYO7A | c.6118C>A (p.Leu2040Met) c.3919C>A c.5971C>A (p.Leu1991Met) c.3544C>A (p.Leu1182Met) c.6004C>A (p.Leu2002Met) n.3654C>A n.25+307C>A n.1585C>A c.6001C>A (p.Leu2001Met) c.6109C>A (p.Leu2037Met) c.6112C>A (p.Leu2038Met) c.6085C>A (p.Leu2029Met) c.6022C>A (p.Leu2008Met) c.5893C>A (p.Leu1965Met) c.5881C>A (p.Leu1961Met) c.5854C>A (p.Leu1952Met) n.6438C>A n.6412C>A c.6208C>A (p.Leu2070Met) c.6202C>A (p.Leu2068Met) c.6199C>A (p.Leu2067Met) c.6094C>A (p.Leu2032Met) c.6091C>A (p.Leu2031Met) n.6197C>A n.6138C>A n.6183C>A | gnomAD v4 |
11 | g.77211218C>G | CA381935802 | MYO7A | c.6118C>G (p.Leu2040Val) c.3919C>G c.5971C>G (p.Leu1991Val) c.3544C>G (p.Leu1182Val) c.6004C>G (p.Leu2002Val) n.3654C>G n.25+307C>G n.1585C>G c.6001C>G (p.Leu2001Val) c.6109C>G (p.Leu2037Val) c.6112C>G (p.Leu2038Val) c.6085C>G (p.Leu2029Val) c.6022C>G (p.Leu2008Val) c.5893C>G (p.Leu1965Val) c.5881C>G (p.Leu1961Val) c.5854C>G (p.Leu1952Val) n.6438C>G n.6412C>G c.6208C>G (p.Leu2070Val) c.6202C>G (p.Leu2068Val) c.6199C>G (p.Leu2067Val) c.6094C>G (p.Leu2032Val) c.6091C>G (p.Leu2031Val) n.6197C>G n.6138C>G n.6183C>G | |
11 | g.77211218C>T | CA475791946 | MYO7A | c.6118C>T (p.Leu2040=) c.3919C>T c.5971C>T (p.Leu1991=) c.3544C>T (p.Leu1182=) c.6004C>T (p.Leu2002=) n.3654C>T n.25+307C>T n.1585C>T c.6001C>T (p.Leu2001=) c.6109C>T (p.Leu2037=) c.6112C>T (p.Leu2038=) c.6085C>T (p.Leu2029=) c.6022C>T (p.Leu2008=) c.5893C>T (p.Leu1965=) c.5881C>T (p.Leu1961=) c.5854C>T (p.Leu1952=) n.6438C>T n.6412C>T c.6208C>T (p.Leu2070=) c.6202C>T (p.Leu2068=) c.6199C>T (p.Leu2067=) c.6094C>T (p.Leu2032=) c.6091C>T (p.Leu2031=) n.6197C>T n.6138C>T n.6183C>T | gnomAD v4 |
11 | g.77211219T>A | CA381935806 | MYO7A | c.6119T>A (p.Leu2040Gln) c.3920T>A c.5972T>A (p.Leu1991Gln) c.3545T>A (p.Leu1182Gln) c.6005T>A (p.Leu2002Gln) n.3655T>A n.25+308T>A n.1586T>A c.6002T>A (p.Leu2001Gln) c.6110T>A (p.Leu2037Gln) c.6113T>A (p.Leu2038Gln) c.6086T>A (p.Leu2029Gln) c.6023T>A (p.Leu2008Gln) c.5894T>A (p.Leu1965Gln) c.5882T>A (p.Leu1961Gln) c.5855T>A (p.Leu1952Gln) n.6439T>A n.6413T>A c.6209T>A (p.Leu2070Gln) c.6203T>A (p.Leu2068Gln) c.6200T>A (p.Leu2067Gln) c.6095T>A (p.Leu2032Gln) c.6092T>A (p.Leu2031Gln) n.6198T>A n.6139T>A n.6184T>A | gnomAD v4 |
11 | g.77211219T>C | CA381935809 | MYO7A | c.6119T>C (p.Leu2040Pro) c.3920T>C c.5972T>C (p.Leu1991Pro) c.3545T>C (p.Leu1182Pro) c.6005T>C (p.Leu2002Pro) n.3655T>C n.25+308T>C n.1586T>C c.6002T>C (p.Leu2001Pro) c.6110T>C (p.Leu2037Pro) c.6113T>C (p.Leu2038Pro) c.6086T>C (p.Leu2029Pro) c.6023T>C (p.Leu2008Pro) c.5894T>C (p.Leu1965Pro) c.5882T>C (p.Leu1961Pro) c.5855T>C (p.Leu1952Pro) n.6439T>C n.6413T>C c.6209T>C (p.Leu2070Pro) c.6203T>C (p.Leu2068Pro) c.6200T>C (p.Leu2067Pro) c.6095T>C (p.Leu2032Pro) c.6092T>C (p.Leu2031Pro) n.6198T>C n.6139T>C n.6184T>C | |
11 | g.77211219T>G | CA381935811 | MYO7A | c.6119T>G (p.Leu2040Arg) c.3920T>G c.5972T>G (p.Leu1991Arg) c.3545T>G (p.Leu1182Arg) c.6005T>G (p.Leu2002Arg) n.3655T>G n.25+308T>G n.1586T>G c.6002T>G (p.Leu2001Arg) c.6110T>G (p.Leu2037Arg) c.6113T>G (p.Leu2038Arg) c.6086T>G (p.Leu2029Arg) c.6023T>G (p.Leu2008Arg) c.5894T>G (p.Leu1965Arg) c.5882T>G (p.Leu1961Arg) c.5855T>G (p.Leu1952Arg) n.6439T>G n.6413T>G c.6209T>G (p.Leu2070Arg) c.6203T>G (p.Leu2068Arg) c.6200T>G (p.Leu2067Arg) c.6095T>G (p.Leu2032Arg) c.6092T>G (p.Leu2031Arg) n.6198T>G n.6139T>G n.6184T>G | |
11 | g.77211220G>A | CA475791947 | MYO7A | c.6120G>A (p.Leu2040=) c.3921G>A c.5973G>A (p.Leu1991=) c.3546G>A (p.Leu1182=) c.6006G>A (p.Leu2002=) n.3656G>A n.25+309G>A n.1587G>A c.6003G>A (p.Leu2001=) c.6111G>A (p.Leu2037=) c.6114G>A (p.Leu2038=) c.6087G>A (p.Leu2029=) c.6024G>A (p.Leu2008=) c.5895G>A (p.Leu1965=) c.5883G>A (p.Leu1961=) c.5856G>A (p.Leu1952=) n.6440G>A n.6414G>A c.6210G>A (p.Leu2070=) c.6204G>A (p.Leu2068=) c.6201G>A (p.Leu2067=) c.6096G>A (p.Leu2032=) c.6093G>A (p.Leu2031=) n.6199G>A n.6140G>A n.6185G>A | gnomAD v4 |
11 | g.77211220G>C | CA475791948 | MYO7A | c.6120G>C (p.Leu2040=) c.3921G>C c.5973G>C (p.Leu1991=) c.3546G>C (p.Leu1182=) c.6006G>C (p.Leu2002=) n.3656G>C n.25+309G>C n.1587G>C c.6003G>C (p.Leu2001=) c.6111G>C (p.Leu2037=) c.6114G>C (p.Leu2038=) c.6087G>C (p.Leu2029=) c.6024G>C (p.Leu2008=) c.5895G>C (p.Leu1965=) c.5883G>C (p.Leu1961=) c.5856G>C (p.Leu1952=) n.6440G>C n.6414G>C c.6210G>C (p.Leu2070=) c.6204G>C (p.Leu2068=) c.6201G>C (p.Leu2067=) c.6096G>C (p.Leu2032=) c.6093G>C (p.Leu2031=) n.6199G>C n.6140G>C n.6185G>C | ClinVar dbSNP gnomAD v4 |
11 | g.77211220G= | CA1984129863 | MYO7A | c.6120G= (p.Leu2040=) c.3921G= c.5973G= (p.Leu1991=) c.3546G= (p.Leu1182=) c.6006G= (p.Leu2002=) n.3656G= n.25+309G= n.1587G= c.6003G= (p.Leu2001=) c.6111G= (p.Leu2037=) c.6114G= (p.Leu2038=) c.6087G= (p.Leu2029=) c.6024G= (p.Leu2008=) c.5895G= (p.Leu1965=) c.5883G= (p.Leu1961=) c.5856G= (p.Leu1952=) n.6440G= n.6414G= c.6210G= (p.Leu2070=) c.6204G= (p.Leu2068=) c.6201G= (p.Leu2067=) c.6096G= (p.Leu2032=) c.6093G= (p.Leu2031=) n.6199G= n.6140G= n.6185G= | |
11 | g.77211220G>T | CA475791949 | MYO7A | c.6120G>T (p.Leu2040=) c.3921G>T c.5973G>T (p.Leu1991=) c.3546G>T (p.Leu1182=) c.6006G>T (p.Leu2002=) n.3656G>T n.25+309G>T n.1587G>T c.6003G>T (p.Leu2001=) c.6111G>T (p.Leu2037=) c.6114G>T (p.Leu2038=) c.6087G>T (p.Leu2029=) c.6024G>T (p.Leu2008=) c.5895G>T (p.Leu1965=) c.5883G>T (p.Leu1961=) c.5856G>T (p.Leu1952=) n.6440G>T n.6414G>T c.6210G>T (p.Leu2070=) c.6204G>T (p.Leu2068=) c.6201G>T (p.Leu2067=) c.6096G>T (p.Leu2032=) c.6093G>T (p.Leu2031=) n.6199G>T n.6140G>T n.6185G>T | gnomAD v4 |
11 | g.77211221A>C | CA381935813 | MYO7A | c.6121A>C (p.Ile2041Leu) c.3922A>C c.5974A>C (p.Ile1992Leu) c.3547A>C (p.Ile1183Leu) c.6007A>C (p.Ile2003Leu) n.3657A>C n.25+310A>C n.1588A>C c.6004A>C (p.Ile2002Leu) c.6112A>C (p.Ile2038Leu) c.6115A>C (p.Ile2039Leu) c.6088A>C (p.Ile2030Leu) c.6025A>C (p.Ile2009Leu) c.5896A>C (p.Ile1966Leu) c.5884A>C (p.Ile1962Leu) c.5857A>C (p.Ile1953Leu) n.6441A>C n.6415A>C c.6211A>C (p.Ile2071Leu) c.6205A>C (p.Ile2069Leu) c.6202A>C (p.Ile2068Leu) c.6097A>C (p.Ile2033Leu) c.6094A>C (p.Ile2032Leu) n.6200A>C n.6141A>C n.6186A>C | |
11 | g.77211221A>G | CA381935814 | MYO7A | c.6121A>G (p.Ile2041Val) c.3922A>G c.5974A>G (p.Ile1992Val) c.3547A>G (p.Ile1183Val) c.6007A>G (p.Ile2003Val) n.3657A>G n.25+310A>G n.1588A>G c.6004A>G (p.Ile2002Val) c.6112A>G (p.Ile2038Val) c.6115A>G (p.Ile2039Val) c.6088A>G (p.Ile2030Val) c.6025A>G (p.Ile2009Val) c.5896A>G (p.Ile1966Val) c.5884A>G (p.Ile1962Val) c.5857A>G (p.Ile1953Val) n.6441A>G n.6415A>G c.6211A>G (p.Ile2071Val) c.6205A>G (p.Ile2069Val) c.6202A>G (p.Ile2068Val) c.6097A>G (p.Ile2033Val) c.6094A>G (p.Ile2032Val) n.6200A>G n.6141A>G n.6186A>G | gnomAD v4 COSMIC |
11 | g.77211221A>T | CA381935815 | MYO7A | c.6121A>T (p.Ile2041Phe) c.3922A>T c.5974A>T (p.Ile1992Phe) c.3547A>T (p.Ile1183Phe) c.6007A>T (p.Ile2003Phe) n.3657A>T n.25+310A>T n.1588A>T c.6004A>T (p.Ile2002Phe) c.6112A>T (p.Ile2038Phe) c.6115A>T (p.Ile2039Phe) c.6088A>T (p.Ile2030Phe) c.6025A>T (p.Ile2009Phe) c.5896A>T (p.Ile1966Phe) c.5884A>T (p.Ile1962Phe) c.5857A>T (p.Ile1953Phe) n.6441A>T n.6415A>T c.6211A>T (p.Ile2071Phe) c.6205A>T (p.Ile2069Phe) c.6202A>T (p.Ile2068Phe) c.6097A>T (p.Ile2033Phe) c.6094A>T (p.Ile2032Phe) n.6200A>T n.6141A>T n.6186A>T | |
11 | g.77211222T>A | CA381935816 | MYO7A | c.6122T>A (p.Ile2041Asn) c.3923T>A c.5975T>A (p.Ile1992Asn) c.3548T>A (p.Ile1183Asn) c.6008T>A (p.Ile2003Asn) n.3658T>A n.25+311T>A n.1589T>A c.6005T>A (p.Ile2002Asn) c.6113T>A (p.Ile2038Asn) c.6116T>A (p.Ile2039Asn) c.6089T>A (p.Ile2030Asn) c.6026T>A (p.Ile2009Asn) c.5897T>A (p.Ile1966Asn) c.5885T>A (p.Ile1962Asn) c.5858T>A (p.Ile1953Asn) n.6442T>A n.6416T>A c.6212T>A (p.Ile2071Asn) c.6206T>A (p.Ile2069Asn) c.6203T>A (p.Ile2068Asn) c.6098T>A (p.Ile2033Asn) c.6095T>A (p.Ile2032Asn) n.6201T>A n.6142T>A n.6187T>A | |
11 | g.77211222T>C | CA381935818 | MYO7A | c.6122T>C (p.Ile2041Thr) c.3923T>C c.5975T>C (p.Ile1992Thr) c.3548T>C (p.Ile1183Thr) c.6008T>C (p.Ile2003Thr) n.3658T>C n.25+311T>C n.1589T>C c.6005T>C (p.Ile2002Thr) c.6113T>C (p.Ile2038Thr) c.6116T>C (p.Ile2039Thr) c.6089T>C (p.Ile2030Thr) c.6026T>C (p.Ile2009Thr) c.5897T>C (p.Ile1966Thr) c.5885T>C (p.Ile1962Thr) c.5858T>C (p.Ile1953Thr) n.6442T>C n.6416T>C c.6212T>C (p.Ile2071Thr) c.6206T>C (p.Ile2069Thr) c.6203T>C (p.Ile2068Thr) c.6098T>C (p.Ile2033Thr) c.6095T>C (p.Ile2032Thr) n.6201T>C n.6142T>C n.6187T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.77211222T>G | CA381935820 | MYO7A | c.6122T>G (p.Ile2041Ser) c.3923T>G c.5975T>G (p.Ile1992Ser) c.3548T>G (p.Ile1183Ser) c.6008T>G (p.Ile2003Ser) n.3658T>G n.25+311T>G n.1589T>G c.6005T>G (p.Ile2002Ser) c.6113T>G (p.Ile2038Ser) c.6116T>G (p.Ile2039Ser) c.6089T>G (p.Ile2030Ser) c.6026T>G (p.Ile2009Ser) c.5897T>G (p.Ile1966Ser) c.5885T>G (p.Ile1962Ser) c.5858T>G (p.Ile1953Ser) n.6442T>G n.6416T>G c.6212T>G (p.Ile2071Ser) c.6206T>G (p.Ile2069Ser) c.6203T>G (p.Ile2068Ser) c.6098T>G (p.Ile2033Ser) c.6095T>G (p.Ile2032Ser) n.6201T>G n.6142T>G n.6187T>G | |
11 | g.77211222T= | CA1984129864 | MYO7A | c.6122T= (p.Ile2041=) c.3923T= c.5975T= (p.Ile1992=) c.3548T= (p.Ile1183=) c.6008T= (p.Ile2003=) n.3658T= n.25+311T= n.1589T= c.6005T= (p.Ile2002=) c.6113T= (p.Ile2038=) c.6116T= (p.Ile2039=) c.6089T= (p.Ile2030=) c.6026T= (p.Ile2009=) c.5897T= (p.Ile1966=) c.5885T= (p.Ile1962=) c.5858T= (p.Ile1953=) n.6442T= n.6416T= c.6212T= (p.Ile2071=) c.6206T= (p.Ile2069=) c.6203T= (p.Ile2068=) c.6098T= (p.Ile2033=) c.6095T= (p.Ile2032=) n.6201T= n.6142T= n.6187T= | |
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 |