Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.77156904G>A | CA277961 | MYO7A | c.635G>A (p.Arg212His) c.602G>A (p.Arg201His) c.377G>A (p.Arg126His) n.955G>A n.957G>A c.725G>A (p.Arg242His) n.740G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.77156904G>C | CA381932102 | MYO7A | c.635G>C (p.Arg212Pro) c.602G>C (p.Arg201Pro) c.377G>C (p.Arg126Pro) n.955G>C n.957G>C c.725G>C (p.Arg242Pro) n.740G>C | |
11 | g.77156904G= | CA1984095865 | MYO7A | c.635G= (p.Arg212=) c.602G= (p.Arg201=) c.377G= (p.Arg126=) n.955G= n.957G= c.725G= (p.Arg242=) n.740G= | |
11 | g.77156904G>T | CA381932103 | MYO7A | c.635G>T (p.Arg212Leu) c.602G>T (p.Arg201Leu) c.377G>T (p.Arg126Leu) n.955G>T n.957G>T c.725G>T (p.Arg242Leu) n.740G>T | |
11 | g.77156905T>A | CA475886873 | MYO7A | c.636T>A (p.Arg212=) c.603T>A (p.Arg201=) c.378T>A (p.Arg126=) n.956T>A n.958T>A c.726T>A (p.Arg242=) n.741T>A | |
11 | g.77156905T>C | CA475886875 | MYO7A | c.636T>C (p.Arg212=) c.603T>C (p.Arg201=) c.378T>C (p.Arg126=) n.956T>C n.958T>C c.726T>C (p.Arg242=) n.741T>C | |
11 | g.77156905T>G | CA475886876 | MYO7A | c.636T>G (p.Arg212=) c.603T>G (p.Arg201=) c.378T>G (p.Arg126=) n.956T>G n.958T>G c.726T>G (p.Arg242=) n.741T>G | |
11 | g.77156906T>A | CA381932104 | MYO7A | c.637T>A (p.Phe213Ile) c.604T>A (p.Phe202Ile) c.379T>A (p.Phe127Ile) n.957T>A n.959T>A c.727T>A (p.Phe243Ile) n.742T>A | |
11 | g.77156906T>C | CA381932106 | MYO7A | c.637T>C (p.Phe213Leu) c.604T>C (p.Phe202Leu) c.379T>C (p.Phe127Leu) n.957T>C n.959T>C c.727T>C (p.Phe243Leu) n.742T>C | |
11 | g.77156906T>G | CA381932105 | MYO7A | c.637T>G (p.Phe213Val) c.604T>G (p.Phe202Val) c.379T>G (p.Phe127Val) n.957T>G n.959T>G c.727T>G (p.Phe243Val) n.742T>G | |
11 | g.77156907T>A | CA381932107 | MYO7A | c.638T>A (p.Phe213Tyr) c.605T>A (p.Phe202Tyr) c.380T>A (p.Phe127Tyr) n.958T>A n.960T>A c.728T>A (p.Phe243Tyr) n.743T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.77156907T>C | CA381932108 | MYO7A | c.638T>C (p.Phe213Ser) c.605T>C (p.Phe202Ser) c.380T>C (p.Phe127Ser) n.958T>C n.960T>C c.728T>C (p.Phe243Ser) n.743T>C | |
11 | g.77156907T>G | CA381932109 | MYO7A | c.638T>G (p.Phe213Cys) c.605T>G (p.Phe202Cys) c.380T>G (p.Phe127Cys) n.958T>G n.960T>G c.728T>G (p.Phe243Cys) n.743T>G | |
11 | g.77156907T= | CA1984095869 | MYO7A | c.638T= (p.Phe213=) c.605T= (p.Phe202=) c.380T= (p.Phe127=) n.958T= n.960T= c.728T= (p.Phe243=) n.743T= | |
11 | g.77156908C>A | CA381932110 | MYO7A | c.639C>A (p.Phe213Leu) c.606C>A (p.Phe202Leu) c.381C>A (p.Phe127Leu) n.959C>A n.961C>A c.729C>A (p.Phe243Leu) n.744C>A | |
11 | g.77156908C= | CA1984095874 | MYO7A | c.639C= (p.Phe213=) c.606C= (p.Phe202=) c.381C= (p.Phe127=) n.959C= n.961C= c.729C= (p.Phe243=) n.744C= | |
11 | g.77156908C>G | CA381932111 | MYO7A | c.639C>G (p.Phe213Leu) c.606C>G (p.Phe202Leu) c.381C>G (p.Phe127Leu) n.959C>G n.961C>G c.729C>G (p.Phe243Leu) n.744C>G | ClinVar dbSNP gnomAD v4 |
11 | g.77156908C>T | CA6197206 | MYO7A | c.639C>T (p.Phe213=) c.606C>T (p.Phe202=) c.381C>T (p.Phe127=) n.959C>T n.961C>T c.729C>T (p.Phe243=) n.744C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77156909G>A | CA278709 | MYO7A | c.640G>A (p.Gly214Arg) c.607G>A (p.Gly203Arg) c.382G>A (p.Gly128Arg) n.960G>A n.962G>A c.730G>A (p.Gly244Arg) n.745G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.77156909G>C | CA381932112 | MYO7A | c.640G>C (p.Gly214Arg) c.607G>C (p.Gly203Arg) c.382G>C (p.Gly128Arg) n.960G>C n.962G>C c.730G>C (p.Gly244Arg) n.745G>C | |
11 | g.77156909G= | CA1984095889 | MYO7A | c.640G= (p.Gly214=) c.607G= (p.Gly203=) c.382G= (p.Gly128=) n.960G= n.962G= c.730G= (p.Gly244=) n.745G= | |
11 | g.77156909G>T | CA381932113 | MYO7A | c.640G>T (p.Gly214Ter) c.607G>T (p.Gly203Ter) c.382G>T (p.Gly128Ter) n.960G>T n.962G>T c.730G>T (p.Gly244Ter) n.745G>T | |
11 | g.77156910G>A | CA381932114 | MYO7A | c.641G>A (p.Gly214Glu) c.608G>A (p.Gly203Glu) c.383G>A (p.Gly128Glu) n.961G>A n.963G>A c.731G>A (p.Gly244Glu) n.746G>A | |
11 | g.77156910G>C | CA381932115 | MYO7A | c.641G>C (p.Gly214Ala) c.608G>C (p.Gly203Ala) c.383G>C (p.Gly128Ala) n.961G>C n.963G>C c.731G>C (p.Gly244Ala) n.746G>C | |
11 | g.77156910G>T | CA381932116 | MYO7A | c.641G>T (p.Gly214Val) c.608G>T (p.Gly203Val) c.383G>T (p.Gly128Val) n.961G>T n.963G>T c.731G>T (p.Gly244Val) n.746G>T | |
11 | g.77156911A>C | CA475886890 | MYO7A | c.642A>C (p.Gly214=) c.609A>C (p.Gly203=) c.384A>C (p.Gly128=) n.962A>C n.964A>C c.732A>C (p.Gly244=) n.747A>C | |
11 | g.77156911A>G | CA475886888 | MYO7A | c.642A>G (p.Gly214=) c.609A>G (p.Gly203=) c.384A>G (p.Gly128=) n.962A>G n.964A>G c.732A>G (p.Gly244=) n.747A>G | |
11 | g.77156911A>T | CA475886889 | MYO7A | c.642A>T (p.Gly214=) c.609A>T (p.Gly203=) c.384A>T (p.Gly128=) n.962A>T n.964A>T c.732A>T (p.Gly244=) n.747A>T | |
11 | g.77156913dup | CA2615246653 | MYO7A | c.644dup (p.Tyr216ValfsTer18) c.611dup (p.Tyr205ValfsTer18) c.386dup (p.Tyr130ValfsTer18) n.964dup n.966dup c.734dup (p.Tyr246ValfsTer18) n.749dup | gnomAD v4 |
11 | g.77156912A>C | CA381932117 | MYO7A | c.643A>C (p.Lys215Gln) c.610A>C (p.Lys204Gln) c.385A>C (p.Lys129Gln) n.963A>C n.965A>C c.733A>C (p.Lys245Gln) n.748A>C | |
11 | g.77156912A>G | CA381932119 | MYO7A | c.643A>G (p.Lys215Glu) c.610A>G (p.Lys204Glu) c.385A>G (p.Lys129Glu) n.963A>G n.965A>G c.733A>G (p.Lys245Glu) n.748A>G | |
11 | g.77156912A>T | CA381932118 | MYO7A | c.643A>T (p.Lys215Ter) c.610A>T (p.Lys204Ter) c.385A>T (p.Lys129Ter) n.963A>T n.965A>T c.733A>T (p.Lys245Ter) n.748A>T | |
11 | g.77156913A>C | CA381932120 | MYO7A | c.644A>C (p.Lys215Thr) c.611A>C (p.Lys204Thr) c.386A>C (p.Lys129Thr) n.964A>C n.966A>C c.734A>C (p.Lys245Thr) n.749A>C | gnomAD v4 |
11 | g.77156913A>G | CA381932122 | MYO7A | c.644A>G (p.Lys215Arg) c.611A>G (p.Lys204Arg) c.386A>G (p.Lys129Arg) n.964A>G n.966A>G c.734A>G (p.Lys245Arg) n.749A>G | |
11 | g.77156913A>T | CA381932121 | MYO7A | c.644A>T (p.Lys215Met) c.611A>T (p.Lys204Met) c.386A>T (p.Lys129Met) n.964A>T n.966A>T c.734A>T (p.Lys245Met) n.749A>T | |
11 | g.77156914G>A | CA475886899 | MYO7A | c.645G>A (p.Lys215=) c.612G>A (p.Lys204=) c.387G>A (p.Lys129=) n.965G>A n.967G>A c.735G>A (p.Lys245=) n.750G>A | |
11 | g.77156914G>C | CA381932123 | MYO7A | c.645G>C (p.Lys215Asn) c.612G>C (p.Lys204Asn) c.387G>C (p.Lys129Asn) n.965G>C n.967G>C c.735G>C (p.Lys245Asn) n.750G>C | |
11 | g.77156914G>T | CA381932124 | MYO7A | c.645G>T (p.Lys215Asn) c.612G>T (p.Lys204Asn) c.387G>T (p.Lys129Asn) n.965G>T n.967G>T c.735G>T (p.Lys245Asn) n.750G>T | |
11 | g.77156915T>A | CA381932125 | MYO7A | c.646T>A (p.Tyr216Asn) c.613T>A (p.Tyr205Asn) c.388T>A (p.Tyr130Asn) n.966T>A n.968T>A c.736T>A (p.Tyr246Asn) n.751T>A | |
11 | g.77156915T>C | CA381932126 | MYO7A | c.646T>C (p.Tyr216His) c.613T>C (p.Tyr205His) c.388T>C (p.Tyr130His) n.966T>C n.968T>C c.736T>C (p.Tyr246His) n.751T>C | |
11 | g.77156915T>G | CA381932127 | MYO7A | c.646T>G (p.Tyr216Asp) c.613T>G (p.Tyr205Asp) c.388T>G (p.Tyr130Asp) n.966T>G n.968T>G c.736T>G (p.Tyr246Asp) n.751T>G | |
11 | g.77156915_77156921delinsTACATCG | CA1984095902 | MYO7A | c.646_652delinsTACATCG (p.Tyr216=) c.613_619delinsTACATCG (p.Tyr205=) c.388_394delinsTACATCG (p.Tyr130=) n.966_972delinsTACATCG n.968_974delinsTACATCG c.736_742delinsTACATCG (p.Tyr246=) n.751_757delinsTACATCG | |
11 | g.77156916A>C | CA381932129 | MYO7A | c.647A>C (p.Tyr216Ser) c.614A>C (p.Tyr205Ser) c.389A>C (p.Tyr130Ser) n.967A>C n.969A>C c.737A>C (p.Tyr246Ser) n.752A>C | |
11 | g.77156916A>G | CA381932130 | MYO7A | c.647A>G (p.Tyr216Cys) c.614A>G (p.Tyr205Cys) c.389A>G (p.Tyr130Cys) n.967A>G n.969A>G c.737A>G (p.Tyr246Cys) n.752A>G | |
11 | g.77156916A>T | CA381932131 | MYO7A | c.647A>T (p.Tyr216Phe) c.614A>T (p.Tyr205Phe) c.389A>T (p.Tyr130Phe) n.967A>T n.969A>T c.737A>T (p.Tyr246Phe) n.752A>T | gnomAD v4 |
11 | g.77156921_77156926del | CA658656130 | MYO7A | c.652_657del (p.Asp218_Ile219del) c.619_624del (p.Asp207_Ile208del) c.394_399del (p.Asp132_Ile133del) n.972_977del n.974_979del c.742_747del (p.Asp248_Ile249del) n.757_762del | ClinVar dbSNP |
11 | g.77156917C>A | CA381932132 | MYO7A | c.648C>A (p.Tyr216Ter) c.615C>A (p.Tyr205Ter) c.390C>A (p.Tyr130Ter) n.968C>A n.970C>A c.738C>A (p.Tyr246Ter) n.753C>A | |
11 | g.77156917C>G | CA381932133 | MYO7A | c.648C>G (p.Tyr216Ter) c.615C>G (p.Tyr205Ter) c.390C>G (p.Tyr130Ter) n.968C>G n.970C>G c.738C>G (p.Tyr246Ter) n.753C>G | |
11 | g.77156917C>T | CA475886905 | MYO7A | c.648C>T (p.Tyr216=) c.615C>T (p.Tyr205=) c.390C>T (p.Tyr130=) n.968C>T n.970C>T c.738C>T (p.Tyr246=) n.753C>T | |
11 | g.77156918A= | CA1984095921 | MYO7A | c.649A= (p.Ile217=) c.616A= (p.Ile206=) c.391A= (p.Ile131=) n.969A= n.971A= c.739A= (p.Ile247=) n.754A= |