| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77208781A= | CA1984128611 | MYO7A | c.6029A= (p.Asp2010=) c.3830A= c.5882A= (p.Asp1961=) c.3455A= (p.Asp1152=) c.5915A= (p.Asp1972=) n.3565A= n.943A= c.5912A= (p.Asp1971=) c.6020A= (p.Asp2007=) c.6023A= (p.Asp2008=) c.5996A= (p.Asp1999=) c.5933A= (p.Asp1978=) c.5804A= (p.Asp1935=) c.5792A= (p.Asp1931=) c.5765A= (p.Asp1922=) n.6349A= n.6323A= c.6119A= (p.Asp2040=) c.6113A= (p.Asp2038=) c.6110A= (p.Asp2037=) c.6005A= (p.Asp2002=) c.6002A= (p.Asp2001=) n.6108A= n.6049A= n.6094A= | |
| 11 | g.77208781A>C | CA381934634 | MYO7A | c.6029A>C (p.Asp2010Ala) c.3830A>C c.5882A>C (p.Asp1961Ala) c.3455A>C (p.Asp1152Ala) c.5915A>C (p.Asp1972Ala) n.3565A>C n.943A>C c.5912A>C (p.Asp1971Ala) c.6020A>C (p.Asp2007Ala) c.6023A>C (p.Asp2008Ala) c.5996A>C (p.Asp1999Ala) c.5933A>C (p.Asp1978Ala) c.5804A>C (p.Asp1935Ala) c.5792A>C (p.Asp1931Ala) c.5765A>C (p.Asp1922Ala) n.6349A>C n.6323A>C c.6119A>C (p.Asp2040Ala) c.6113A>C (p.Asp2038Ala) c.6110A>C (p.Asp2037Ala) c.6005A>C (p.Asp2002Ala) c.6002A>C (p.Asp2001Ala) n.6108A>C n.6049A>C n.6094A>C | |
| 11 | g.77208781A>G | CA278703 | MYO7A | c.6029A>G (p.Asp2010Gly) c.3830A>G c.5882A>G (p.Asp1961Gly) c.3455A>G (p.Asp1152Gly) c.5915A>G (p.Asp1972Gly) n.3565A>G n.943A>G c.5912A>G (p.Asp1971Gly) c.6020A>G (p.Asp2007Gly) c.6023A>G (p.Asp2008Gly) c.5996A>G (p.Asp1999Gly) c.5933A>G (p.Asp1978Gly) c.5804A>G (p.Asp1935Gly) c.5792A>G (p.Asp1931Gly) c.5765A>G (p.Asp1922Gly) n.6349A>G n.6323A>G c.6119A>G (p.Asp2040Gly) c.6113A>G (p.Asp2038Gly) c.6110A>G (p.Asp2037Gly) c.6005A>G (p.Asp2002Gly) c.6002A>G (p.Asp2001Gly) n.6108A>G n.6049A>G n.6094A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77208781A>T | CA381934639 | MYO7A | c.6029A>T (p.Asp2010Val) c.3830A>T c.5882A>T (p.Asp1961Val) c.3455A>T (p.Asp1152Val) c.5915A>T (p.Asp1972Val) n.3565A>T n.943A>T c.5912A>T (p.Asp1971Val) c.6020A>T (p.Asp2007Val) c.6023A>T (p.Asp2008Val) c.5996A>T (p.Asp1999Val) c.5933A>T (p.Asp1978Val) c.5804A>T (p.Asp1935Val) c.5792A>T (p.Asp1931Val) c.5765A>T (p.Asp1922Val) n.6349A>T n.6323A>T c.6119A>T (p.Asp2040Val) c.6113A>T (p.Asp2038Val) c.6110A>T (p.Asp2037Val) c.6005A>T (p.Asp2002Val) c.6002A>T (p.Asp2001Val) n.6108A>T n.6049A>T n.6094A>T | |
| 11 | g.77208782T>A | CA381934643 | MYO7A | c.6030T>A (p.Asp2010Glu) c.3831T>A c.5883T>A (p.Asp1961Glu) c.3456T>A (p.Asp1152Glu) c.5916T>A (p.Asp1972Glu) n.3566T>A n.944T>A c.5913T>A (p.Asp1971Glu) c.6021T>A (p.Asp2007Glu) c.6024T>A (p.Asp2008Glu) c.5997T>A (p.Asp1999Glu) c.5934T>A (p.Asp1978Glu) c.5805T>A (p.Asp1935Glu) c.5793T>A (p.Asp1931Glu) c.5766T>A (p.Asp1922Glu) n.6350T>A n.6324T>A c.6120T>A (p.Asp2040Glu) c.6114T>A (p.Asp2038Glu) c.6111T>A (p.Asp2037Glu) c.6006T>A (p.Asp2002Glu) c.6003T>A (p.Asp2001Glu) n.6109T>A n.6050T>A n.6095T>A | |
| 11 | g.77208782T>C | CA475791709 | MYO7A | c.6030T>C (p.Asp2010=) c.3831T>C c.5883T>C (p.Asp1961=) c.3456T>C (p.Asp1152=) c.5916T>C (p.Asp1972=) n.3566T>C n.944T>C c.5913T>C (p.Asp1971=) c.6021T>C (p.Asp2007=) c.6024T>C (p.Asp2008=) c.5997T>C (p.Asp1999=) c.5934T>C (p.Asp1978=) c.5805T>C (p.Asp1935=) c.5793T>C (p.Asp1931=) c.5766T>C (p.Asp1922=) n.6350T>C n.6324T>C c.6120T>C (p.Asp2040=) c.6114T>C (p.Asp2038=) c.6111T>C (p.Asp2037=) c.6006T>C (p.Asp2002=) c.6003T>C (p.Asp2001=) n.6109T>C n.6050T>C n.6095T>C | ClinVar |
| 11 | g.77208782T>G | CA381934646 | MYO7A | c.6030T>G (p.Asp2010Glu) c.3831T>G c.5883T>G (p.Asp1961Glu) c.3456T>G (p.Asp1152Glu) c.5916T>G (p.Asp1972Glu) n.3566T>G n.944T>G c.5913T>G (p.Asp1971Glu) c.6021T>G (p.Asp2007Glu) c.6024T>G (p.Asp2008Glu) c.5997T>G (p.Asp1999Glu) c.5934T>G (p.Asp1978Glu) c.5805T>G (p.Asp1935Glu) c.5793T>G (p.Asp1931Glu) c.5766T>G (p.Asp1922Glu) n.6350T>G n.6324T>G c.6120T>G (p.Asp2040Glu) c.6114T>G (p.Asp2038Glu) c.6111T>G (p.Asp2037Glu) c.6006T>G (p.Asp2002Glu) c.6003T>G (p.Asp2001Glu) n.6109T>G n.6050T>G n.6095T>G | |
| 11 | g.77208783T>A | CA381934649 | MYO7A | c.6031T>A (p.Ser2011Thr) c.3832T>A c.5884T>A (p.Ser1962Thr) c.3457T>A (p.Ser1153Thr) c.5917T>A (p.Ser1973Thr) n.3567T>A n.945T>A c.5914T>A (p.Ser1972Thr) c.6022T>A (p.Ser2008Thr) c.6025T>A (p.Ser2009Thr) c.5998T>A (p.Ser2000Thr) c.5935T>A (p.Ser1979Thr) c.5806T>A (p.Ser1936Thr) c.5794T>A (p.Ser1932Thr) c.5767T>A (p.Ser1923Thr) n.6351T>A n.6325T>A c.6121T>A (p.Ser2041Thr) c.6115T>A (p.Ser2039Thr) c.6112T>A (p.Ser2038Thr) c.6007T>A (p.Ser2003Thr) c.6004T>A (p.Ser2002Thr) n.6110T>A n.6051T>A n.6096T>A | |
| 11 | g.77208783T>C | CA381934651 | MYO7A | c.6031T>C (p.Ser2011Pro) c.3832T>C c.5884T>C (p.Ser1962Pro) c.3457T>C (p.Ser1153Pro) c.5917T>C (p.Ser1973Pro) n.3567T>C n.945T>C c.5914T>C (p.Ser1972Pro) c.6022T>C (p.Ser2008Pro) c.6025T>C (p.Ser2009Pro) c.5998T>C (p.Ser2000Pro) c.5935T>C (p.Ser1979Pro) c.5806T>C (p.Ser1936Pro) c.5794T>C (p.Ser1932Pro) c.5767T>C (p.Ser1923Pro) n.6351T>C n.6325T>C c.6121T>C (p.Ser2041Pro) c.6115T>C (p.Ser2039Pro) c.6112T>C (p.Ser2038Pro) c.6007T>C (p.Ser2003Pro) c.6004T>C (p.Ser2002Pro) n.6110T>C n.6051T>C n.6096T>C | |
| 11 | g.77208783T>G | CA381934654 | MYO7A | c.6031T>G (p.Ser2011Ala) c.3832T>G c.5884T>G (p.Ser1962Ala) c.3457T>G (p.Ser1153Ala) c.5917T>G (p.Ser1973Ala) n.3567T>G n.945T>G c.5914T>G (p.Ser1972Ala) c.6022T>G (p.Ser2008Ala) c.6025T>G (p.Ser2009Ala) c.5998T>G (p.Ser2000Ala) c.5935T>G (p.Ser1979Ala) c.5806T>G (p.Ser1936Ala) c.5794T>G (p.Ser1932Ala) c.5767T>G (p.Ser1923Ala) n.6351T>G n.6325T>G c.6121T>G (p.Ser2041Ala) c.6115T>G (p.Ser2039Ala) c.6112T>G (p.Ser2038Ala) c.6007T>G (p.Ser2003Ala) c.6004T>G (p.Ser2002Ala) n.6110T>G n.6051T>G n.6096T>G | |
| 11 | g.77208784C>A | CA381934664 | MYO7A | c.6032C>A (p.Ser2011Tyr) c.3833C>A c.5885C>A (p.Ser1962Tyr) c.3458C>A (p.Ser1153Tyr) c.5918C>A (p.Ser1973Tyr) n.3568C>A n.946C>A c.5915C>A (p.Ser1972Tyr) c.6023C>A (p.Ser2008Tyr) c.6026C>A (p.Ser2009Tyr) c.5999C>A (p.Ser2000Tyr) c.5936C>A (p.Ser1979Tyr) c.5807C>A (p.Ser1936Tyr) c.5795C>A (p.Ser1932Tyr) c.5768C>A (p.Ser1923Tyr) n.6352C>A n.6326C>A c.6122C>A (p.Ser2041Tyr) c.6116C>A (p.Ser2039Tyr) c.6113C>A (p.Ser2038Tyr) c.6008C>A (p.Ser2003Tyr) c.6005C>A (p.Ser2002Tyr) n.6111C>A n.6052C>A n.6097C>A | gnomAD v4 |
| 11 | g.77208784C>G | CA381934661 | MYO7A | c.6032C>G (p.Ser2011Cys) c.3833C>G c.5885C>G (p.Ser1962Cys) c.3458C>G (p.Ser1153Cys) c.5918C>G (p.Ser1973Cys) n.3568C>G n.946C>G c.5915C>G (p.Ser1972Cys) c.6023C>G (p.Ser2008Cys) c.6026C>G (p.Ser2009Cys) c.5999C>G (p.Ser2000Cys) c.5936C>G (p.Ser1979Cys) c.5807C>G (p.Ser1936Cys) c.5795C>G (p.Ser1932Cys) c.5768C>G (p.Ser1923Cys) n.6352C>G n.6326C>G c.6122C>G (p.Ser2041Cys) c.6116C>G (p.Ser2039Cys) c.6113C>G (p.Ser2038Cys) c.6008C>G (p.Ser2003Cys) c.6005C>G (p.Ser2002Cys) n.6111C>G n.6052C>G n.6097C>G | |
| 11 | g.77208784C>T | CA381934658 | MYO7A | c.6032C>T (p.Ser2011Phe) c.3833C>T c.5885C>T (p.Ser1962Phe) c.3458C>T (p.Ser1153Phe) c.5918C>T (p.Ser1973Phe) n.3568C>T n.946C>T c.5915C>T (p.Ser1972Phe) c.6023C>T (p.Ser2008Phe) c.6026C>T (p.Ser2009Phe) c.5999C>T (p.Ser2000Phe) c.5936C>T (p.Ser1979Phe) c.5807C>T (p.Ser1936Phe) c.5795C>T (p.Ser1932Phe) c.5768C>T (p.Ser1923Phe) n.6352C>T n.6326C>T c.6122C>T (p.Ser2041Phe) c.6116C>T (p.Ser2039Phe) c.6113C>T (p.Ser2038Phe) c.6008C>T (p.Ser2003Phe) c.6005C>T (p.Ser2002Phe) n.6111C>T n.6052C>T n.6097C>T | gnomAD v4 |
| 11 | g.77208785C>A | CA475791710 | MYO7A | c.6033C>A (p.Ser2011=) c.3834C>A c.5886C>A (p.Ser1962=) c.3459C>A (p.Ser1153=) c.5919C>A (p.Ser1973=) n.3569C>A n.947C>A c.5916C>A (p.Ser1972=) c.6024C>A (p.Ser2008=) c.6027C>A (p.Ser2009=) c.6000C>A (p.Ser2000=) c.5937C>A (p.Ser1979=) c.5808C>A (p.Ser1936=) c.5796C>A (p.Ser1932=) c.5769C>A (p.Ser1923=) n.6353C>A n.6327C>A c.6123C>A (p.Ser2041=) c.6117C>A (p.Ser2039=) c.6114C>A (p.Ser2038=) c.6009C>A (p.Ser2003=) c.6006C>A (p.Ser2002=) n.6112C>A n.6053C>A n.6098C>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77208785C= | CA1984128612 | MYO7A | c.6033C= (p.Ser2011=) c.3834C= c.5886C= (p.Ser1962=) c.3459C= (p.Ser1153=) c.5919C= (p.Ser1973=) n.3569C= n.947C= c.5916C= (p.Ser1972=) c.6024C= (p.Ser2008=) c.6027C= (p.Ser2009=) c.6000C= (p.Ser2000=) c.5937C= (p.Ser1979=) c.5808C= (p.Ser1936=) c.5796C= (p.Ser1932=) c.5769C= (p.Ser1923=) n.6353C= n.6327C= c.6123C= (p.Ser2041=) c.6117C= (p.Ser2039=) c.6114C= (p.Ser2038=) c.6009C= (p.Ser2003=) c.6006C= (p.Ser2002=) n.6112C= n.6053C= n.6098C= | |
| 11 | g.77208785C>G | CA475791712 | MYO7A | c.6033C>G (p.Ser2011=) c.3834C>G c.5886C>G (p.Ser1962=) c.3459C>G (p.Ser1153=) c.5919C>G (p.Ser1973=) n.3569C>G n.947C>G c.5916C>G (p.Ser1972=) c.6024C>G (p.Ser2008=) c.6027C>G (p.Ser2009=) c.6000C>G (p.Ser2000=) c.5937C>G (p.Ser1979=) c.5808C>G (p.Ser1936=) c.5796C>G (p.Ser1932=) c.5769C>G (p.Ser1923=) n.6353C>G n.6327C>G c.6123C>G (p.Ser2041=) c.6117C>G (p.Ser2039=) c.6114C>G (p.Ser2038=) c.6009C>G (p.Ser2003=) c.6006C>G (p.Ser2002=) n.6112C>G n.6053C>G n.6098C>G | |
| 11 | g.77208785C>T | CA475791711 | MYO7A | c.6033C>T (p.Ser2011=) c.3834C>T c.5886C>T (p.Ser1962=) c.3459C>T (p.Ser1153=) c.5919C>T (p.Ser1973=) n.3569C>T n.947C>T c.5916C>T (p.Ser1972=) c.6024C>T (p.Ser2008=) c.6027C>T (p.Ser2009=) c.6000C>T (p.Ser2000=) c.5937C>T (p.Ser1979=) c.5808C>T (p.Ser1936=) c.5796C>T (p.Ser1932=) c.5769C>T (p.Ser1923=) n.6353C>T n.6327C>T c.6123C>T (p.Ser2041=) c.6117C>T (p.Ser2039=) c.6114C>T (p.Ser2038=) c.6009C>T (p.Ser2003=) c.6006C>T (p.Ser2002=) n.6112C>T n.6053C>T n.6098C>T | ClinVar dbSNP |
| 11 | g.77208786A= | CA1984128613 | MYO7A | c.6034A= (p.Ile2012=) c.3835A= c.5887A= (p.Ile1963=) c.3460A= (p.Ile1154=) c.5920A= (p.Ile1974=) n.3570A= n.948A= c.5917A= (p.Ile1973=) c.6025A= (p.Ile2009=) c.6028A= (p.Ile2010=) c.6001A= (p.Ile2001=) c.5938A= (p.Ile1980=) c.5809A= (p.Ile1937=) c.5797A= (p.Ile1933=) c.5770A= (p.Ile1924=) n.6354A= n.6328A= c.6124A= (p.Ile2042=) c.6118A= (p.Ile2040=) c.6115A= (p.Ile2039=) c.6010A= (p.Ile2004=) c.6007A= (p.Ile2003=) n.6113A= n.6054A= n.6099A= | |
| 11 | g.77208786A>C | CA381934666 | MYO7A | c.6034A>C (p.Ile2012Leu) c.3835A>C c.5887A>C (p.Ile1963Leu) c.3460A>C (p.Ile1154Leu) c.5920A>C (p.Ile1974Leu) n.3570A>C n.948A>C c.5917A>C (p.Ile1973Leu) c.6025A>C (p.Ile2009Leu) c.6028A>C (p.Ile2010Leu) c.6001A>C (p.Ile2001Leu) c.5938A>C (p.Ile1980Leu) c.5809A>C (p.Ile1937Leu) c.5797A>C (p.Ile1933Leu) c.5770A>C (p.Ile1924Leu) n.6354A>C n.6328A>C c.6124A>C (p.Ile2042Leu) c.6118A>C (p.Ile2040Leu) c.6115A>C (p.Ile2039Leu) c.6010A>C (p.Ile2004Leu) c.6007A>C (p.Ile2003Leu) n.6113A>C n.6054A>C n.6099A>C | |
| 11 | g.77208786A>G | CA381934669 | MYO7A | c.6034A>G (p.Ile2012Val) c.3835A>G c.5887A>G (p.Ile1963Val) c.3460A>G (p.Ile1154Val) c.5920A>G (p.Ile1974Val) n.3570A>G n.948A>G c.5917A>G (p.Ile1973Val) c.6025A>G (p.Ile2009Val) c.6028A>G (p.Ile2010Val) c.6001A>G (p.Ile2001Val) c.5938A>G (p.Ile1980Val) c.5809A>G (p.Ile1937Val) c.5797A>G (p.Ile1933Val) c.5770A>G (p.Ile1924Val) n.6354A>G n.6328A>G c.6124A>G (p.Ile2042Val) c.6118A>G (p.Ile2040Val) c.6115A>G (p.Ile2039Val) c.6010A>G (p.Ile2004Val) c.6007A>G (p.Ile2003Val) n.6113A>G n.6054A>G n.6099A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77208786A>T | CA381934672 | MYO7A | c.6034A>T (p.Ile2012Phe) c.3835A>T c.5887A>T (p.Ile1963Phe) c.3460A>T (p.Ile1154Phe) c.5920A>T (p.Ile1974Phe) n.3570A>T n.948A>T c.5917A>T (p.Ile1973Phe) c.6025A>T (p.Ile2009Phe) c.6028A>T (p.Ile2010Phe) c.6001A>T (p.Ile2001Phe) c.5938A>T (p.Ile1980Phe) c.5809A>T (p.Ile1937Phe) c.5797A>T (p.Ile1933Phe) c.5770A>T (p.Ile1924Phe) n.6354A>T n.6328A>T c.6124A>T (p.Ile2042Phe) c.6118A>T (p.Ile2040Phe) c.6115A>T (p.Ile2039Phe) c.6010A>T (p.Ile2004Phe) c.6007A>T (p.Ile2003Phe) n.6113A>T n.6054A>T n.6099A>T | |
| 11 | g.77208787T>A | CA381934676 | MYO7A | c.6035T>A (p.Ile2012Asn) c.3836T>A c.5888T>A (p.Ile1963Asn) c.3461T>A (p.Ile1154Asn) c.5921T>A (p.Ile1974Asn) n.3571T>A n.949T>A c.5918T>A (p.Ile1973Asn) c.6026T>A (p.Ile2009Asn) c.6029T>A (p.Ile2010Asn) c.6002T>A (p.Ile2001Asn) c.5939T>A (p.Ile1980Asn) c.5810T>A (p.Ile1937Asn) c.5798T>A (p.Ile1933Asn) c.5771T>A (p.Ile1924Asn) n.6355T>A n.6329T>A c.6125T>A (p.Ile2042Asn) c.6119T>A (p.Ile2040Asn) c.6116T>A (p.Ile2039Asn) c.6011T>A (p.Ile2004Asn) c.6008T>A (p.Ile2003Asn) n.6114T>A n.6055T>A n.6100T>A | gnomAD v4 |
| 11 | g.77208787T>C | CA381934678 | MYO7A | c.6035T>C (p.Ile2012Thr) c.3836T>C c.5888T>C (p.Ile1963Thr) c.3461T>C (p.Ile1154Thr) c.5921T>C (p.Ile1974Thr) n.3571T>C n.949T>C c.5918T>C (p.Ile1973Thr) c.6026T>C (p.Ile2009Thr) c.6029T>C (p.Ile2010Thr) c.6002T>C (p.Ile2001Thr) c.5939T>C (p.Ile1980Thr) c.5810T>C (p.Ile1937Thr) c.5798T>C (p.Ile1933Thr) c.5771T>C (p.Ile1924Thr) n.6355T>C n.6329T>C c.6125T>C (p.Ile2042Thr) c.6119T>C (p.Ile2040Thr) c.6116T>C (p.Ile2039Thr) c.6011T>C (p.Ile2004Thr) c.6008T>C (p.Ile2003Thr) n.6114T>C n.6055T>C n.6100T>C | gnomAD v4 |
| 11 | g.77208787T>G | CA381934681 | MYO7A | c.6035T>G (p.Ile2012Ser) c.3836T>G c.5888T>G (p.Ile1963Ser) c.3461T>G (p.Ile1154Ser) c.5921T>G (p.Ile1974Ser) n.3571T>G n.949T>G c.5918T>G (p.Ile1973Ser) c.6026T>G (p.Ile2009Ser) c.6029T>G (p.Ile2010Ser) c.6002T>G (p.Ile2001Ser) c.5939T>G (p.Ile1980Ser) c.5810T>G (p.Ile1937Ser) c.5798T>G (p.Ile1933Ser) c.5771T>G (p.Ile1924Ser) n.6355T>G n.6329T>G c.6125T>G (p.Ile2042Ser) c.6119T>G (p.Ile2040Ser) c.6116T>G (p.Ile2039Ser) c.6011T>G (p.Ile2004Ser) c.6008T>G (p.Ile2003Ser) n.6114T>G n.6055T>G n.6100T>G | |
| 11 | g.77208788C>A | CA475791713 | MYO7A | c.6036C>A (p.Ile2012=) c.3837C>A c.5889C>A (p.Ile1963=) c.3462C>A (p.Ile1154=) c.5922C>A (p.Ile1974=) n.3572C>A n.950C>A c.5919C>A (p.Ile1973=) c.6027C>A (p.Ile2009=) c.6030C>A (p.Ile2010=) c.6003C>A (p.Ile2001=) c.5940C>A (p.Ile1980=) c.5811C>A (p.Ile1937=) c.5799C>A (p.Ile1933=) c.5772C>A (p.Ile1924=) n.6356C>A n.6330C>A c.6126C>A (p.Ile2042=) c.6120C>A (p.Ile2040=) c.6117C>A (p.Ile2039=) c.6012C>A (p.Ile2004=) c.6009C>A (p.Ile2003=) n.6115C>A n.6056C>A n.6101C>A | gnomAD v4 |
| 11 | g.77208788C= | CA1984128614 | MYO7A | c.6036C= (p.Ile2012=) c.3837C= c.5889C= (p.Ile1963=) c.3462C= (p.Ile1154=) c.5922C= (p.Ile1974=) n.3572C= n.950C= c.5919C= (p.Ile1973=) c.6027C= (p.Ile2009=) c.6030C= (p.Ile2010=) c.6003C= (p.Ile2001=) c.5940C= (p.Ile1980=) c.5811C= (p.Ile1937=) c.5799C= (p.Ile1933=) c.5772C= (p.Ile1924=) n.6356C= n.6330C= c.6126C= (p.Ile2042=) c.6120C= (p.Ile2040=) c.6117C= (p.Ile2039=) c.6012C= (p.Ile2004=) c.6009C= (p.Ile2003=) n.6115C= n.6056C= n.6101C= | |
| 11 | g.77208788C>G | CA381934683 | MYO7A | c.6036C>G (p.Ile2012Met) c.3837C>G c.5889C>G (p.Ile1963Met) c.3462C>G (p.Ile1154Met) c.5922C>G (p.Ile1974Met) n.3572C>G n.950C>G c.5919C>G (p.Ile1973Met) c.6027C>G (p.Ile2009Met) c.6030C>G (p.Ile2010Met) c.6003C>G (p.Ile2001Met) c.5940C>G (p.Ile1980Met) c.5811C>G (p.Ile1937Met) c.5799C>G (p.Ile1933Met) c.5772C>G (p.Ile1924Met) n.6356C>G n.6330C>G c.6126C>G (p.Ile2042Met) c.6120C>G (p.Ile2040Met) c.6117C>G (p.Ile2039Met) c.6012C>G (p.Ile2004Met) c.6009C>G (p.Ile2003Met) n.6115C>G n.6056C>G n.6101C>G | |
| 11 | g.77208788C>T | CA475791714 | MYO7A | c.6036C>T (p.Ile2012=) c.3837C>T c.5889C>T (p.Ile1963=) c.3462C>T (p.Ile1154=) c.5922C>T (p.Ile1974=) n.3572C>T n.950C>T c.5919C>T (p.Ile1973=) c.6027C>T (p.Ile2009=) c.6030C>T (p.Ile2010=) c.6003C>T (p.Ile2001=) c.5940C>T (p.Ile1980=) c.5811C>T (p.Ile1937=) c.5799C>T (p.Ile1933=) c.5772C>T (p.Ile1924=) n.6356C>T n.6330C>T c.6126C>T (p.Ile2042=) c.6120C>T (p.Ile2040=) c.6117C>T (p.Ile2039=) c.6012C>T (p.Ile2004=) c.6009C>T (p.Ile2003=) n.6115C>T n.6056C>T n.6101C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77208789T>A | CA381934688 | MYO7A | c.6037T>A (p.Phe2013Ile) c.3838T>A c.5890T>A (p.Phe1964Ile) c.3463T>A (p.Phe1155Ile) c.5923T>A (p.Phe1975Ile) n.3573T>A n.951T>A c.5920T>A (p.Phe1974Ile) c.6028T>A (p.Phe2010Ile) c.6031T>A (p.Phe2011Ile) c.6004T>A (p.Phe2002Ile) c.5941T>A (p.Phe1981Ile) c.5812T>A (p.Phe1938Ile) c.5800T>A (p.Phe1934Ile) c.5773T>A (p.Phe1925Ile) n.6357T>A n.6331T>A c.6127T>A (p.Phe2043Ile) c.6121T>A (p.Phe2041Ile) c.6118T>A (p.Phe2040Ile) c.6013T>A (p.Phe2005Ile) c.6010T>A (p.Phe2004Ile) n.6116T>A n.6057T>A n.6102T>A | ClinVar gnomAD v4 |
| 11 | g.77208789T>C | CA381934690 | MYO7A | c.6037T>C (p.Phe2013Leu) c.3838T>C c.5890T>C (p.Phe1964Leu) c.3463T>C (p.Phe1155Leu) c.5923T>C (p.Phe1975Leu) n.3573T>C n.951T>C c.5920T>C (p.Phe1974Leu) c.6028T>C (p.Phe2010Leu) c.6031T>C (p.Phe2011Leu) c.6004T>C (p.Phe2002Leu) c.5941T>C (p.Phe1981Leu) c.5812T>C (p.Phe1938Leu) c.5800T>C (p.Phe1934Leu) c.5773T>C (p.Phe1925Leu) n.6357T>C n.6331T>C c.6127T>C (p.Phe2043Leu) c.6121T>C (p.Phe2041Leu) c.6118T>C (p.Phe2040Leu) c.6013T>C (p.Phe2005Leu) c.6010T>C (p.Phe2004Leu) n.6116T>C n.6057T>C n.6102T>C | gnomAD v4 |
| 11 | g.77208789T>G | CA381934694 | MYO7A | c.6037T>G (p.Phe2013Val) c.3838T>G c.5890T>G (p.Phe1964Val) c.3463T>G (p.Phe1155Val) c.5923T>G (p.Phe1975Val) n.3573T>G n.951T>G c.5920T>G (p.Phe1974Val) c.6028T>G (p.Phe2010Val) c.6031T>G (p.Phe2011Val) c.6004T>G (p.Phe2002Val) c.5941T>G (p.Phe1981Val) c.5812T>G (p.Phe1938Val) c.5800T>G (p.Phe1934Val) c.5773T>G (p.Phe1925Val) n.6357T>G n.6331T>G c.6127T>G (p.Phe2043Val) c.6121T>G (p.Phe2041Val) c.6118T>G (p.Phe2040Val) c.6013T>G (p.Phe2005Val) c.6010T>G (p.Phe2004Val) n.6116T>G n.6057T>G n.6102T>G | |
| 11 | g.77208790T>A | CA381934697 | MYO7A | c.6038T>A (p.Phe2013Tyr) c.3839T>A c.5891T>A (p.Phe1964Tyr) c.3464T>A (p.Phe1155Tyr) c.5924T>A (p.Phe1975Tyr) n.3574T>A n.952T>A c.5921T>A (p.Phe1974Tyr) c.6029T>A (p.Phe2010Tyr) c.6032T>A (p.Phe2011Tyr) c.6005T>A (p.Phe2002Tyr) c.5942T>A (p.Phe1981Tyr) c.5813T>A (p.Phe1938Tyr) c.5801T>A (p.Phe1934Tyr) c.5774T>A (p.Phe1925Tyr) n.6358T>A n.6332T>A c.6128T>A (p.Phe2043Tyr) c.6122T>A (p.Phe2041Tyr) c.6119T>A (p.Phe2040Tyr) c.6014T>A (p.Phe2005Tyr) c.6011T>A (p.Phe2004Tyr) n.6117T>A n.6058T>A n.6103T>A | |
| 11 | g.77208790T>C | CA381934700 | MYO7A | c.6038T>C (p.Phe2013Ser) c.3839T>C c.5891T>C (p.Phe1964Ser) c.3464T>C (p.Phe1155Ser) c.5924T>C (p.Phe1975Ser) n.3574T>C n.952T>C c.5921T>C (p.Phe1974Ser) c.6029T>C (p.Phe2010Ser) c.6032T>C (p.Phe2011Ser) c.6005T>C (p.Phe2002Ser) c.5942T>C (p.Phe1981Ser) c.5813T>C (p.Phe1938Ser) c.5801T>C (p.Phe1934Ser) c.5774T>C (p.Phe1925Ser) n.6358T>C n.6332T>C c.6128T>C (p.Phe2043Ser) c.6122T>C (p.Phe2041Ser) c.6119T>C (p.Phe2040Ser) c.6014T>C (p.Phe2005Ser) c.6011T>C (p.Phe2004Ser) n.6117T>C n.6058T>C n.6103T>C | gnomAD v4 |
| 11 | g.77208790T>G | CA381934702 | MYO7A | c.6038T>G (p.Phe2013Cys) c.3839T>G c.5891T>G (p.Phe1964Cys) c.3464T>G (p.Phe1155Cys) c.5924T>G (p.Phe1975Cys) n.3574T>G n.952T>G c.5921T>G (p.Phe1974Cys) c.6029T>G (p.Phe2010Cys) c.6032T>G (p.Phe2011Cys) c.6005T>G (p.Phe2002Cys) c.5942T>G (p.Phe1981Cys) c.5813T>G (p.Phe1938Cys) c.5801T>G (p.Phe1934Cys) c.5774T>G (p.Phe1925Cys) n.6358T>G n.6332T>G c.6128T>G (p.Phe2043Cys) c.6122T>G (p.Phe2041Cys) c.6119T>G (p.Phe2040Cys) c.6014T>G (p.Phe2005Cys) c.6011T>G (p.Phe2004Cys) n.6117T>G n.6058T>G n.6103T>G | |
| 11 | g.77208791C>A | CA381934712 | MYO7A | c.6039C>A (p.Phe2013Leu) c.3840C>A c.5892C>A (p.Phe1964Leu) c.3465C>A (p.Phe1155Leu) c.5925C>A (p.Phe1975Leu) n.3575C>A n.953C>A c.5922C>A (p.Phe1974Leu) c.6030C>A (p.Phe2010Leu) c.6033C>A (p.Phe2011Leu) c.6006C>A (p.Phe2002Leu) c.5943C>A (p.Phe1981Leu) c.5814C>A (p.Phe1938Leu) c.5802C>A (p.Phe1934Leu) c.5775C>A (p.Phe1925Leu) n.6359C>A n.6333C>A c.6129C>A (p.Phe2043Leu) c.6123C>A (p.Phe2041Leu) c.6120C>A (p.Phe2040Leu) c.6015C>A (p.Phe2005Leu) c.6012C>A (p.Phe2004Leu) n.6118C>A n.6059C>A n.6104C>A | gnomAD v4 |
| 11 | g.77208791C>G | CA381934708 | MYO7A | c.6039C>G (p.Phe2013Leu) c.3840C>G c.5892C>G (p.Phe1964Leu) c.3465C>G (p.Phe1155Leu) c.5925C>G (p.Phe1975Leu) n.3575C>G n.953C>G c.5922C>G (p.Phe1974Leu) c.6030C>G (p.Phe2010Leu) c.6033C>G (p.Phe2011Leu) c.6006C>G (p.Phe2002Leu) c.5943C>G (p.Phe1981Leu) c.5814C>G (p.Phe1938Leu) c.5802C>G (p.Phe1934Leu) c.5775C>G (p.Phe1925Leu) n.6359C>G n.6333C>G c.6129C>G (p.Phe2043Leu) c.6123C>G (p.Phe2041Leu) c.6120C>G (p.Phe2040Leu) c.6015C>G (p.Phe2005Leu) c.6012C>G (p.Phe2004Leu) n.6118C>G n.6059C>G n.6104C>G | gnomAD v4 |
| 11 | g.77208791C>T | CA475791715 | MYO7A | c.6039C>T (p.Phe2013=) c.3840C>T c.5892C>T (p.Phe1964=) c.3465C>T (p.Phe1155=) c.5925C>T (p.Phe1975=) n.3575C>T n.953C>T c.5922C>T (p.Phe1974=) c.6030C>T (p.Phe2010=) c.6033C>T (p.Phe2011=) c.6006C>T (p.Phe2002=) c.5943C>T (p.Phe1981=) c.5814C>T (p.Phe1938=) c.5802C>T (p.Phe1934=) c.5775C>T (p.Phe1925=) n.6359C>T n.6333C>T c.6129C>T (p.Phe2043=) c.6123C>T (p.Phe2041=) c.6120C>T (p.Phe2040=) c.6015C>T (p.Phe2005=) c.6012C>T (p.Phe2004=) n.6118C>T n.6059C>T n.6104C>T | gnomAD v4 |
| 11 | g.77208792del | CA2615256482 | MYO7A | c.6040del (p.His2014ThrfsTer27) c.3841del c.5893del (p.His1965ThrfsTer27) c.3466del (p.His1156ThrfsTer27) c.5926del (p.His1976ThrfsTer27) n.3576del n.954del c.5923del (p.His1975ThrfsTer27) c.6031del (p.His2011ThrfsTer27) c.6034del (p.His2012ThrfsTer27) c.6007del (p.His2003ThrfsTer27) c.5944del (p.His1982ThrfsTer27) c.5815del (p.His1939ThrfsTer27) c.5803del (p.His1935ThrfsTer27) c.5776del (p.His1926ThrfsTer27) n.6360del n.6334del c.6130del (p.His2044ThrfsTer27) c.6124del (p.His2042ThrfsTer27) c.6121del (p.His2041ThrfsTer27) c.6016del (p.His2006ThrfsTer27) c.6013del (p.His2005ThrfsTer27) n.6119del n.6060del n.6105del | gnomAD v4 |
| 11 | g.77208792C>A | CA381934715 | MYO7A | c.6040C>A (p.His2014Asn) c.3841C>A c.5893C>A (p.His1965Asn) c.3466C>A (p.His1156Asn) c.5926C>A (p.His1976Asn) n.3576C>A n.954C>A c.5923C>A (p.His1975Asn) c.6031C>A (p.His2011Asn) c.6034C>A (p.His2012Asn) c.6007C>A (p.His2003Asn) c.5944C>A (p.His1982Asn) c.5815C>A (p.His1939Asn) c.5803C>A (p.His1935Asn) c.5776C>A (p.His1926Asn) n.6360C>A n.6334C>A c.6130C>A (p.His2044Asn) c.6124C>A (p.His2042Asn) c.6121C>A (p.His2041Asn) c.6016C>A (p.His2006Asn) c.6013C>A (p.His2005Asn) n.6119C>A n.6060C>A n.6105C>A | gnomAD v4 |
| 11 | g.77208792C>G | CA381934718 | MYO7A | c.6040C>G (p.His2014Asp) c.3841C>G c.5893C>G (p.His1965Asp) c.3466C>G (p.His1156Asp) c.5926C>G (p.His1976Asp) n.3576C>G n.954C>G c.5923C>G (p.His1975Asp) c.6031C>G (p.His2011Asp) c.6034C>G (p.His2012Asp) c.6007C>G (p.His2003Asp) c.5944C>G (p.His1982Asp) c.5815C>G (p.His1939Asp) c.5803C>G (p.His1935Asp) c.5776C>G (p.His1926Asp) n.6360C>G n.6334C>G c.6130C>G (p.His2044Asp) c.6124C>G (p.His2042Asp) c.6121C>G (p.His2041Asp) c.6016C>G (p.His2006Asp) c.6013C>G (p.His2005Asp) n.6119C>G n.6060C>G n.6105C>G | |
| 11 | g.77208792C>T | CA381934720 | MYO7A | c.6040C>T (p.His2014Tyr) c.3841C>T c.5893C>T (p.His1965Tyr) c.3466C>T (p.His1156Tyr) c.5926C>T (p.His1976Tyr) n.3576C>T n.954C>T c.5923C>T (p.His1975Tyr) c.6031C>T (p.His2011Tyr) c.6034C>T (p.His2012Tyr) c.6007C>T (p.His2003Tyr) c.5944C>T (p.His1982Tyr) c.5815C>T (p.His1939Tyr) c.5803C>T (p.His1935Tyr) c.5776C>T (p.His1926Tyr) n.6360C>T n.6334C>T c.6130C>T (p.His2044Tyr) c.6124C>T (p.His2042Tyr) c.6121C>T (p.His2041Tyr) c.6016C>T (p.His2006Tyr) c.6013C>T (p.His2005Tyr) n.6119C>T n.6060C>T n.6105C>T | |
| 11 | g.77208793A>C | CA381934724 | MYO7A | c.6041A>C (p.His2014Pro) c.3842A>C c.5894A>C (p.His1965Pro) c.3467A>C (p.His1156Pro) c.5927A>C (p.His1976Pro) n.3577A>C n.955A>C c.5924A>C (p.His1975Pro) c.6032A>C (p.His2011Pro) c.6035A>C (p.His2012Pro) c.6008A>C (p.His2003Pro) c.5945A>C (p.His1982Pro) c.5816A>C (p.His1939Pro) c.5804A>C (p.His1935Pro) c.5777A>C (p.His1926Pro) n.6361A>C n.6335A>C c.6131A>C (p.His2044Pro) c.6125A>C (p.His2042Pro) c.6122A>C (p.His2041Pro) c.6017A>C (p.His2006Pro) c.6014A>C (p.His2005Pro) n.6120A>C n.6061A>C n.6106A>C | |
| 11 | g.77208793A>G | CA381934726 | MYO7A | c.6041A>G (p.His2014Arg) c.3842A>G c.5894A>G (p.His1965Arg) c.3467A>G (p.His1156Arg) c.5927A>G (p.His1976Arg) n.3577A>G n.955A>G c.5924A>G (p.His1975Arg) c.6032A>G (p.His2011Arg) c.6035A>G (p.His2012Arg) c.6008A>G (p.His2003Arg) c.5945A>G (p.His1982Arg) c.5816A>G (p.His1939Arg) c.5804A>G (p.His1935Arg) c.5777A>G (p.His1926Arg) n.6361A>G n.6335A>G c.6131A>G (p.His2044Arg) c.6125A>G (p.His2042Arg) c.6122A>G (p.His2041Arg) c.6017A>G (p.His2006Arg) c.6014A>G (p.His2005Arg) n.6120A>G n.6061A>G n.6106A>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.77208793A>T | CA381934728 | MYO7A | c.6041A>T (p.His2014Leu) c.3842A>T c.5894A>T (p.His1965Leu) c.3467A>T (p.His1156Leu) c.5927A>T (p.His1976Leu) n.3577A>T n.955A>T c.5924A>T (p.His1975Leu) c.6032A>T (p.His2011Leu) c.6035A>T (p.His2012Leu) c.6008A>T (p.His2003Leu) c.5945A>T (p.His1982Leu) c.5816A>T (p.His1939Leu) c.5804A>T (p.His1935Leu) c.5777A>T (p.His1926Leu) n.6361A>T n.6335A>T c.6131A>T (p.His2044Leu) c.6125A>T (p.His2042Leu) c.6122A>T (p.His2041Leu) c.6017A>T (p.His2006Leu) c.6014A>T (p.His2005Leu) n.6120A>T n.6061A>T n.6106A>T | |
| 11 | g.77208794C>A | CA381934731 | MYO7A | c.6042C>A (p.His2014Gln) c.3843C>A c.5895C>A (p.His1965Gln) c.3468C>A (p.His1156Gln) c.5928C>A (p.His1976Gln) n.3578C>A n.956C>A c.5925C>A (p.His1975Gln) c.6033C>A (p.His2011Gln) c.6036C>A (p.His2012Gln) c.6009C>A (p.His2003Gln) c.5946C>A (p.His1982Gln) c.5817C>A (p.His1939Gln) c.5805C>A (p.His1935Gln) c.5778C>A (p.His1926Gln) n.6362C>A n.6336C>A c.6132C>A (p.His2044Gln) c.6126C>A (p.His2042Gln) c.6123C>A (p.His2041Gln) c.6018C>A (p.His2006Gln) c.6015C>A (p.His2005Gln) n.6121C>A n.6062C>A n.6107C>A | gnomAD v4 |
| 11 | g.77208794C>G | CA381934732 | MYO7A | c.6042C>G (p.His2014Gln) c.3843C>G c.5895C>G (p.His1965Gln) c.3468C>G (p.His1156Gln) c.5928C>G (p.His1976Gln) n.3578C>G n.956C>G c.5925C>G (p.His1975Gln) c.6033C>G (p.His2011Gln) c.6036C>G (p.His2012Gln) c.6009C>G (p.His2003Gln) c.5946C>G (p.His1982Gln) c.5817C>G (p.His1939Gln) c.5805C>G (p.His1935Gln) c.5778C>G (p.His1926Gln) n.6362C>G n.6336C>G c.6132C>G (p.His2044Gln) c.6126C>G (p.His2042Gln) c.6123C>G (p.His2041Gln) c.6018C>G (p.His2006Gln) c.6015C>G (p.His2005Gln) n.6121C>G n.6062C>G n.6107C>G | |
| 11 | g.77208794C>T | CA475791716 | MYO7A | c.6042C>T (p.His2014=) c.3843C>T c.5895C>T (p.His1965=) c.3468C>T (p.His1156=) c.5928C>T (p.His1976=) n.3578C>T n.956C>T c.5925C>T (p.His1975=) c.6033C>T (p.His2011=) c.6036C>T (p.His2012=) c.6009C>T (p.His2003=) c.5946C>T (p.His1982=) c.5817C>T (p.His1939=) c.5805C>T (p.His1935=) c.5778C>T (p.His1926=) n.6362C>T n.6336C>T c.6132C>T (p.His2044=) c.6126C>T (p.His2042=) c.6123C>T (p.His2041=) c.6018C>T (p.His2006=) c.6015C>T (p.His2005=) n.6121C>T n.6062C>T n.6107C>T | gnomAD v4 |
| 11 | g.77208794_77208795insCTGGTAATAGTGGAAGA | CA2615256516 | MYO7A | c.6042_6043insCTGGTAATAGTGGAAGA (p.Tyr2015LeufsTer32) c.3843_3844insCTGGTAATAGTGGAAGA c.5895_5896insCTGGTAATAGTGGAAGA (p.Tyr1966LeufsTer32) c.3468_3469insCTGGTAATAGTGGAAGA (p.Tyr1157LeufsTer32) c.5928_5929insCTGGTAATAGTGGAAGA (p.Tyr1977LeufsTer32) n.3578_3579insCTGGTAATAGTGGAAGA n.956_957insCTGGTAATAGTGGAAGA c.5925_5926insCTGGTAATAGTGGAAGA (p.Tyr1976LeufsTer32) c.6033_6034insCTGGTAATAGTGGAAGA (p.Tyr2012LeufsTer32) c.6036_6037insCTGGTAATAGTGGAAGA (p.Tyr2013LeufsTer32) c.6009_6010insCTGGTAATAGTGGAAGA (p.Tyr2004LeufsTer32) c.5946_5947insCTGGTAATAGTGGAAGA (p.Tyr1983LeufsTer32) c.5817_5818insCTGGTAATAGTGGAAGA (p.Tyr1940LeufsTer32) c.5805_5806insCTGGTAATAGTGGAAGA (p.Tyr1936LeufsTer32) c.5778_5779insCTGGTAATAGTGGAAGA (p.Tyr1927LeufsTer32) n.6362_6363insCTGGTAATAGTGGAAGA n.6336_6337insCTGGTAATAGTGGAAGA c.6132_6133insCTGGTAATAGTGGAAGA (p.Tyr2045LeufsTer32) c.6126_6127insCTGGTAATAGTGGAAGA (p.Tyr2043LeufsTer32) c.6123_6124insCTGGTAATAGTGGAAGA (p.Tyr2042LeufsTer32) c.6018_6019insCTGGTAATAGTGGAAGA (p.Tyr2007LeufsTer32) c.6015_6016insCTGGTAATAGTGGAAGA (p.Tyr2006LeufsTer32) n.6121_6122insCTGGTAATAGTGGAAGA n.6062_6063insCTGGTAATAGTGGAAGA n.6107_6108insCTGGTAATAGTGGAAGA | gnomAD v4 |
| 11 | g.77208795T>A | CA381934734 | MYO7A | c.6043T>A (p.Tyr2015Asn) c.3844T>A c.5896T>A (p.Tyr1966Asn) c.3469T>A (p.Tyr1157Asn) c.5929T>A (p.Tyr1977Asn) n.3579T>A n.957T>A c.5926T>A (p.Tyr1976Asn) c.6034T>A (p.Tyr2012Asn) c.6037T>A (p.Tyr2013Asn) c.6010T>A (p.Tyr2004Asn) c.5947T>A (p.Tyr1983Asn) c.5818T>A (p.Tyr1940Asn) c.5806T>A (p.Tyr1936Asn) c.5779T>A (p.Tyr1927Asn) n.6363T>A n.6337T>A c.6133T>A (p.Tyr2045Asn) c.6127T>A (p.Tyr2043Asn) c.6124T>A (p.Tyr2042Asn) c.6019T>A (p.Tyr2007Asn) c.6016T>A (p.Tyr2006Asn) n.6122T>A n.6063T>A n.6108T>A | gnomAD v4 |
| 11 | g.77208795T>C | CA6198905 | MYO7A | c.6043T>C (p.Tyr2015His) c.3844T>C c.5896T>C (p.Tyr1966His) c.3469T>C (p.Tyr1157His) c.5929T>C (p.Tyr1977His) n.3579T>C n.957T>C c.5926T>C (p.Tyr1976His) c.6034T>C (p.Tyr2012His) c.6037T>C (p.Tyr2013His) c.6010T>C (p.Tyr2004His) c.5947T>C (p.Tyr1983His) c.5818T>C (p.Tyr1940His) c.5806T>C (p.Tyr1936His) c.5779T>C (p.Tyr1927His) n.6363T>C n.6337T>C c.6133T>C (p.Tyr2045His) c.6127T>C (p.Tyr2043His) c.6124T>C (p.Tyr2042His) c.6019T>C (p.Tyr2007His) c.6016T>C (p.Tyr2006His) n.6122T>C n.6063T>C n.6108T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |