| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77156900A= | CA1984095839 | MYO7A | c.631A= (p.Ser211=) c.598A= (p.Ser200=) c.373A= (p.Ser125=) n.951A= n.953A= c.721A= (p.Ser241=) n.736A= | |
| 11 | g.77156900A>C | CA381932093 | MYO7A | c.631A>C (p.Ser211Arg) c.598A>C (p.Ser200Arg) c.373A>C (p.Ser125Arg) n.951A>C n.953A>C c.721A>C (p.Ser241Arg) n.736A>C | |
| 11 | g.77156900A>G | CA278707 | MYO7A | c.631A>G (p.Ser211Gly) c.598A>G (p.Ser200Gly) c.373A>G (p.Ser125Gly) n.951A>G n.953A>G c.721A>G (p.Ser241Gly) n.736A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77156900A>T | CA381932094 | MYO7A | c.631A>T (p.Ser211Cys) c.598A>T (p.Ser200Cys) c.373A>T (p.Ser125Cys) n.951A>T n.953A>T c.721A>T (p.Ser241Cys) n.736A>T | |
| 11 | g.77156901G>A | CA381932095 | MYO7A | c.632G>A (p.Ser211Asn) c.599G>A (p.Ser200Asn) c.374G>A (p.Ser125Asn) n.952G>A n.954G>A c.722G>A (p.Ser241Asn) n.737G>A | ClinVar dbSNP |
| 11 | g.77156901G>C | CA381932096 | MYO7A | c.632G>C (p.Ser211Thr) c.599G>C (p.Ser200Thr) c.374G>C (p.Ser125Thr) n.952G>C n.954G>C c.722G>C (p.Ser241Thr) n.737G>C | |
| 11 | g.77156901G>T | CA381932097 | MYO7A | c.632G>T (p.Ser211Ile) c.599G>T (p.Ser200Ile) c.374G>T (p.Ser125Ile) n.952G>T n.954G>T c.722G>T (p.Ser241Ile) n.737G>T | |
| 11 | g.77156902C>A | CA381932099 | MYO7A | c.633C>A (p.Ser211Arg) c.600C>A (p.Ser200Arg) c.375C>A (p.Ser125Arg) n.953C>A n.955C>A c.723C>A (p.Ser241Arg) n.738C>A | |
| 11 | g.77156902C>G | CA381932098 | MYO7A | c.633C>G (p.Ser211Arg) c.600C>G (p.Ser200Arg) c.375C>G (p.Ser125Arg) n.953C>G n.955C>G c.723C>G (p.Ser241Arg) n.738C>G | |
| 11 | g.77156902C>T | CA475886864 | MYO7A | c.633C>T (p.Ser211=) c.600C>T (p.Ser200=) c.375C>T (p.Ser125=) n.953C>T n.955C>T c.723C>T (p.Ser241=) n.738C>T | ClinVar |
| 11 | g.77156903C>A | CA381932100 | MYO7A | c.634C>A (p.Arg212Ser) c.601C>A (p.Arg201Ser) c.376C>A (p.Arg126Ser) n.954C>A n.956C>A c.724C>A (p.Arg242Ser) n.739C>A | dbSNP gnomAD v4 |
| 11 | g.77156903C= | CA1984095848 | MYO7A | c.634C= (p.Arg212=) c.601C= (p.Arg201=) c.376C= (p.Arg126=) n.954C= n.956C= c.724C= (p.Arg242=) n.739C= | |
| 11 | g.77156903C>G | CA381932101 | MYO7A | c.634C>G (p.Arg212Gly) c.601C>G (p.Arg201Gly) c.376C>G (p.Arg126Gly) n.954C>G n.956C>G c.724C>G (p.Arg242Gly) n.739C>G | |
| 11 | g.77156903C>T | CA277962 | MYO7A | c.634C>T (p.Arg212Cys) c.601C>T (p.Arg201Cys) c.376C>T (p.Arg126Cys) n.954C>T n.956C>T c.724C>T (p.Arg242Cys) n.739C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 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 |