| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77155922A>C | CA381931037 | MYO7A | c.301A>C (p.Ile101Leu) c.268A>C (p.Ile90Leu) c.43A>C (p.Ile15Leu) n.621A>C n.623A>C c.391A>C (p.Ile131Leu) n.406A>C | |
| 11 | g.77155922A>G | CA381931039 | MYO7A | c.301A>G (p.Ile101Val) c.268A>G (p.Ile90Val) c.43A>G (p.Ile15Val) n.621A>G n.623A>G c.391A>G (p.Ile131Val) n.406A>G | |
| 11 | g.77155922A>T | CA381931041 | MYO7A | c.301A>T (p.Ile101Phe) c.268A>T (p.Ile90Phe) c.43A>T (p.Ile15Phe) n.621A>T n.623A>T c.391A>T (p.Ile131Phe) n.406A>T | |
| 11 | g.77155923T>A | CA381931044 | MYO7A | c.302T>A (p.Ile101Asn) c.269T>A (p.Ile90Asn) c.44T>A (p.Ile15Asn) n.622T>A n.624T>A c.392T>A (p.Ile131Asn) n.407T>A | |
| 11 | g.77155923T>C | CA381931045 | MYO7A | c.302T>C (p.Ile101Thr) c.269T>C (p.Ile90Thr) c.44T>C (p.Ile15Thr) n.622T>C n.624T>C c.392T>C (p.Ile131Thr) n.407T>C | |
| 11 | g.77155923T>G | CA381931046 | MYO7A | c.302T>G (p.Ile101Ser) c.269T>G (p.Ile90Ser) c.44T>G (p.Ile15Ser) n.622T>G n.624T>G c.392T>G (p.Ile131Ser) n.407T>G | dbSNP |
| 11 | g.77155923T= | CA1984093664 | MYO7A | c.302T= (p.Ile101=) c.269T= (p.Ile90=) c.44T= (p.Ile15=) n.622T= n.624T= c.392T= (p.Ile131=) n.407T= | |
| 11 | g.77155924C>A | CA475792449 | MYO7A | c.303C>A (p.Ile101=) c.270C>A (p.Ile90=) c.45C>A (p.Ile15=) n.623C>A n.625C>A c.393C>A (p.Ile131=) n.408C>A | |
| 11 | g.77155924C= | CA1984093670 | MYO7A | c.303C= (p.Ile101=) c.270C= (p.Ile90=) c.45C= (p.Ile15=) n.623C= n.625C= c.393C= (p.Ile131=) n.408C= | |
| 11 | g.77155924C>G | CA381931048 | MYO7A | c.303C>G (p.Ile101Met) c.270C>G (p.Ile90Met) c.45C>G (p.Ile15Met) n.623C>G n.625C>G c.393C>G (p.Ile131Met) n.408C>G | |
| 11 | g.77155924C>T | CA475792448 | MYO7A | c.303C>T (p.Ile101=) c.270C>T (p.Ile90=) c.45C>T (p.Ile15=) n.623C>T n.625C>T c.393C>T (p.Ile131=) n.408C>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77155925C>A | CA381931050 | MYO7A | c.304C>A (p.Leu102Met) c.271C>A (p.Leu91Met) c.46C>A (p.Leu16Met) n.624C>A n.626C>A c.394C>A (p.Leu132Met) n.409C>A | |
| 11 | g.77155925C= | CA1984093676 | MYO7A | c.304C= (p.Leu102=) c.271C= (p.Leu91=) c.46C= (p.Leu16=) n.624C= n.626C= c.394C= (p.Leu132=) n.409C= | |
| 11 | g.77155925C>G | CA381931051 | MYO7A | c.304C>G (p.Leu102Val) c.271C>G (p.Leu91Val) c.46C>G (p.Leu16Val) n.624C>G n.626C>G c.394C>G (p.Leu132Val) n.409C>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77155925C>T | CA475792450 | MYO7A | c.304C>T (p.Leu102=) c.271C>T (p.Leu91=) c.46C>T (p.Leu16=) n.624C>T n.626C>T c.394C>T (p.Leu132=) n.409C>T | ClinVar dbSNP |
| 11 | g.77155926T>A | CA381931055 | MYO7A | c.305T>A (p.Leu102Gln) c.272T>A (p.Leu91Gln) c.47T>A (p.Leu16Gln) n.625T>A n.627T>A c.395T>A (p.Leu132Gln) n.410T>A | |
| 11 | g.77155926T>C | CA381931057 | MYO7A | c.305T>C (p.Leu102Pro) c.272T>C (p.Leu91Pro) c.47T>C (p.Leu16Pro) n.625T>C n.627T>C c.395T>C (p.Leu132Pro) n.410T>C | |
| 11 | g.77155926T>G | CA381931059 | MYO7A | c.305T>G (p.Leu102Arg) c.272T>G (p.Leu91Arg) c.47T>G (p.Leu16Arg) n.625T>G n.627T>G c.395T>G (p.Leu132Arg) n.410T>G | |
| 11 | g.77155927G>A | CA475792451 | MYO7A | c.306G>A (p.Leu102=) c.273G>A (p.Leu91=) c.48G>A (p.Leu16=) n.626G>A n.628G>A c.396G>A (p.Leu132=) n.411G>A | gnomAD v4 |
| 11 | g.77155927G>C | CA475792453 | MYO7A | c.306G>C (p.Leu102=) c.273G>C (p.Leu91=) c.48G>C (p.Leu16=) n.626G>C n.628G>C c.396G>C (p.Leu132=) n.411G>C | |
| 11 | g.77155927G>T | CA475792452 | MYO7A | c.306G>T (p.Leu102=) c.273G>T (p.Leu91=) c.48G>T (p.Leu16=) n.626G>T n.628G>T c.396G>T (p.Leu132=) n.411G>T | |
| 11 | g.77155928G>A | CA381931060 | MYO7A | c.307G>A (p.Val103Met) c.274G>A (p.Val92Met) c.49G>A (p.Val17Met) n.627G>A n.629G>A c.397G>A (p.Val133Met) n.412G>A | |
| 11 | g.77155928G>C | CA381931065 | MYO7A | c.307G>C (p.Val103Leu) c.274G>C (p.Val92Leu) c.49G>C (p.Val17Leu) n.627G>C n.629G>C c.397G>C (p.Val133Leu) n.412G>C | |
| 11 | g.77155928G>T | CA381931062 | MYO7A | c.307G>T (p.Val103Leu) c.274G>T (p.Val92Leu) c.49G>T (p.Val17Leu) n.627G>T n.629G>T c.397G>T (p.Val133Leu) n.412G>T | |
| 11 | g.77155929T>A | CA381931067 | MYO7A | c.308T>A (p.Val103Glu) c.275T>A (p.Val92Glu) c.50T>A (p.Val17Glu) n.628T>A n.630T>A c.398T>A (p.Val133Glu) n.413T>A | |
| 11 | g.77155929T>C | CA381931070 | MYO7A | c.308T>C (p.Val103Ala) c.275T>C (p.Val92Ala) c.50T>C (p.Val17Ala) n.628T>C n.630T>C c.398T>C (p.Val133Ala) n.413T>C | |
| 11 | g.77155929T>G | CA381931072 | MYO7A | c.308T>G (p.Val103Gly) c.275T>G (p.Val92Gly) c.50T>G (p.Val17Gly) n.628T>G n.630T>G c.398T>G (p.Val133Gly) n.413T>G | |
| 11 | g.77155930G>A | CA475792454 | MYO7A | c.309G>A (p.Val103=) c.276G>A (p.Val92=) c.51G>A (p.Val17=) n.629G>A n.631G>A c.399G>A (p.Val133=) n.414G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.77155930G>C | CA475792455 | MYO7A | c.309G>C (p.Val103=) c.276G>C (p.Val92=) c.51G>C (p.Val17=) n.629G>C n.631G>C c.399G>C (p.Val133=) n.414G>C | |
| 11 | g.77155930G= | CA1984093687 | MYO7A | c.309G= (p.Val103=) c.276G= (p.Val92=) c.51G= (p.Val17=) n.629G= n.631G= c.399G= (p.Val133=) n.414G= | |
| 11 | g.77155930G>T | CA475792456 | MYO7A | c.309G>T (p.Val103=) c.276G>T (p.Val92=) c.51G>T (p.Val17=) n.629G>T n.631G>T c.399G>T (p.Val133=) n.414G>T | |
| 11 | g.77155931G>A | CA6197102 | MYO7A | c.310G>A (p.Ala104Thr) c.277G>A (p.Ala93Thr) c.52G>A (p.Ala18Thr) n.630G>A n.632G>A c.400G>A (p.Ala134Thr) n.415G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77155931G>C | CA381931077 | MYO7A | c.310G>C (p.Ala104Pro) c.277G>C (p.Ala93Pro) c.52G>C (p.Ala18Pro) n.630G>C n.632G>C c.400G>C (p.Ala134Pro) n.415G>C | |
| 11 | g.77155931G= | CA1984093691 | MYO7A | c.310G= (p.Ala104=) c.277G= (p.Ala93=) c.52G= (p.Ala18=) n.630G= n.632G= c.400G= (p.Ala134=) n.415G= | |
| 11 | g.77155931G>T | CA381931079 | MYO7A | c.310G>T (p.Ala104Ser) c.277G>T (p.Ala93Ser) c.52G>T (p.Ala18Ser) n.630G>T n.632G>T c.400G>T (p.Ala134Ser) n.415G>T | |
| 11 | g.77155932C>A | CA381931082 | MYO7A | c.311C>A (p.Ala104Asp) c.278C>A (p.Ala93Asp) c.53C>A (p.Ala18Asp) n.631C>A n.633C>A c.401C>A (p.Ala134Asp) n.416C>A | |
| 11 | g.77155932C>G | CA381931083 | MYO7A | c.311C>G (p.Ala104Gly) c.278C>G (p.Ala93Gly) c.53C>G (p.Ala18Gly) n.631C>G n.633C>G c.401C>G (p.Ala134Gly) n.416C>G | |
| 11 | g.77155932C>T | CA381931086 | MYO7A | c.311C>T (p.Ala104Val) c.278C>T (p.Ala93Val) c.53C>T (p.Ala18Val) n.631C>T n.633C>T c.401C>T (p.Ala134Val) n.416C>T | |
| 11 | g.77155933T>A | CA475792457 | MYO7A | c.312T>A (p.Ala104=) c.279T>A (p.Ala93=) c.54T>A (p.Ala18=) n.632T>A n.634T>A c.402T>A (p.Ala134=) n.417T>A | |
| 11 | g.77155933T>C | CA6197103 | MYO7A | c.312T>C (p.Ala104=) c.279T>C (p.Ala93=) c.54T>C (p.Ala18=) n.632T>C n.634T>C c.402T>C (p.Ala134=) n.417T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.77155933T>G | CA475792458 | MYO7A | c.312T>G (p.Ala104=) c.279T>G (p.Ala93=) c.54T>G (p.Ala18=) n.632T>G n.634T>G c.402T>G (p.Ala134=) n.417T>G | |
| 11 | g.77155933T= | CA1984093695 | MYO7A | c.312T= (p.Ala104=) c.279T= (p.Ala93=) c.54T= (p.Ala18=) n.632T= n.634T= c.402T= (p.Ala134=) n.417T= | |
| 11 | g.77155933_77155934delinsTG | CA1984093699 | MYO7A | c.312_313delinsTG (p.Ala104=) c.279_280delinsTG (p.Ala93=) c.54_55delinsTG (p.Ala18=) n.632_633delinsTG n.634_635delinsTG c.402_403delinsTG (p.Ala134=) n.417_418delinsTG | |
| 11 | g.77155935_77155936del | CA912973153 | MYO7A | c.314_315del (p.Val105GlufsTer?) c.281_282del (p.Val94GlufsTer?) c.56_57del (p.Val19GlufsTer?) n.634_635del n.636_637del c.404_405del (p.Val135GlufsTer?) n.419_420del | |
| 11 | g.77155934del | CA658822149 | MYO7A | c.313del (p.Val105Ter) c.280del (p.Val94Ter) c.55del (p.Val19Ter) n.633del n.635del c.403del (p.Val135Ter) n.418del | ClinVar dbSNP |
| 11 | g.77155934G>A | CA381931089 | MYO7A | c.313G>A (p.Val105Met) c.280G>A (p.Val94Met) c.55G>A (p.Val19Met) n.633G>A n.635G>A c.403G>A (p.Val135Met) n.418G>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77155934G>C | CA381931092 | MYO7A | c.313G>C (p.Val105Leu) c.280G>C (p.Val94Leu) c.55G>C (p.Val19Leu) n.633G>C n.635G>C c.403G>C (p.Val135Leu) n.418G>C | |
| 11 | g.77155934G= | CA1984093710 | MYO7A | c.313G= (p.Val105=) c.280G= (p.Val94=) c.55G= (p.Val19=) n.633G= n.635G= c.403G= (p.Val135=) n.418G= | |
| 11 | g.77155934G>T | CA381931094 | MYO7A | c.313G>T (p.Val105Leu) c.280G>T (p.Val94Leu) c.55G>T (p.Val19Leu) n.633G>T n.635G>T c.403G>T (p.Val135Leu) n.418G>T | |
| 11 | g.77155935T>A | CA381931099 | MYO7A | c.314T>A (p.Val105Glu) c.281T>A (p.Val94Glu) c.56T>A (p.Val19Glu) n.634T>A n.636T>A c.404T>A (p.Val135Glu) n.419T>A |