Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.77155918C>ACA475792442MYO7Ac.297C>A (p.Gly99=)
c.264C>A (p.Gly88=)
c.39C>A (p.Gly13=)
n.617C>A
n.619C>A
c.387C>A (p.Gly129=)
n.402C>A
 gnomAD v4
11g.77155918C=CA1984093654MYO7Ac.297C= (p.Gly99=)
c.264C= (p.Gly88=)
c.39C= (p.Gly13=)
n.617C=
n.619C=
c.387C= (p.Gly129=)
n.402C=
11g.77155918C>GCA475792443MYO7Ac.297C>G (p.Gly99=)
c.264C>G (p.Gly88=)
c.39C>G (p.Gly13=)
n.617C>G
n.619C>G
c.387C>G (p.Gly129=)
n.402C>G
11g.77155918C>TCA475792444MYO7Ac.297C>T (p.Gly99=)
c.264C>T (p.Gly88=)
c.39C>T (p.Gly13=)
n.617C>T
n.619C>T
c.387C>T (p.Gly129=)
n.402C>T
 dbSNP gnomAD v2 gnomAD v4
11g.77155919T>ACA381931022MYO7Ac.298T>A (p.Ser100Thr)
c.265T>A (p.Ser89Thr)
c.40T>A (p.Ser14Thr)
n.618T>A
n.620T>A
c.388T>A (p.Ser130Thr)
n.403T>A
 gnomAD v4
11g.77155919T>CCA381931024MYO7Ac.298T>C (p.Ser100Pro)
c.265T>C (p.Ser89Pro)
c.40T>C (p.Ser14Pro)
n.618T>C
n.620T>C
c.388T>C (p.Ser130Pro)
n.403T>C
11g.77155919T>GCA381931026MYO7Ac.298T>G (p.Ser100Ala)
c.265T>G (p.Ser89Ala)
c.40T>G (p.Ser14Ala)
n.618T>G
n.620T>G
c.388T>G (p.Ser130Ala)
n.403T>G
11g.77155920C>ACA381931029MYO7Ac.299C>A (p.Ser100Tyr)
c.266C>A (p.Ser89Tyr)
c.41C>A (p.Ser14Tyr)
n.619C>A
n.621C>A
c.389C>A (p.Ser130Tyr)
n.404C>A
11g.77155920C=CA1984093656MYO7Ac.299C= (p.Ser100=)
c.266C= (p.Ser89=)
c.41C= (p.Ser14=)
n.619C=
n.621C=
c.389C= (p.Ser130=)
n.404C=
11g.77155920C>GCA381931033MYO7Ac.299C>G (p.Ser100Cys)
c.266C>G (p.Ser89Cys)
c.41C>G (p.Ser14Cys)
n.619C>G
n.621C>G
c.389C>G (p.Ser130Cys)
n.404C>G
 dbSNP gnomAD v4
11g.77155920C>TCA381931031MYO7Ac.299C>T (p.Ser100Phe)
c.266C>T (p.Ser89Phe)
c.41C>T (p.Ser14Phe)
n.619C>T
n.621C>T
c.389C>T (p.Ser130Phe)
n.404C>T
 gnomAD v4
11g.77155921dupCA2838591864MYO7Ac.300dup (p.Ile101HisfsTer?)
c.267dup (p.Ile90HisfsTer?)
c.42dup (p.Ile15HisfsTer?)
n.620dup
n.622dup
c.390dup (p.Ile131HisfsTer?)
n.405dup
11g.77155921C>ACA475792447MYO7Ac.300C>A (p.Ser100=)
c.267C>A (p.Ser89=)
c.42C>A (p.Ser14=)
n.620C>A
n.622C>A
c.390C>A (p.Ser130=)
n.405C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77155921C=CA1984093659MYO7Ac.300C= (p.Ser100=)
c.267C= (p.Ser89=)
c.42C= (p.Ser14=)
n.620C=
n.622C=
c.390C= (p.Ser130=)
n.405C=
11g.77155921C>GCA475792446MYO7Ac.300C>G (p.Ser100=)
c.267C>G (p.Ser89=)
c.42C>G (p.Ser14=)
n.620C>G
n.622C>G
c.390C>G (p.Ser130=)
n.405C>G
11g.77155921C>TCA475792445MYO7Ac.300C>T (p.Ser100=)
c.267C>T (p.Ser89=)
c.42C>T (p.Ser14=)
n.620C>T
n.622C>T
c.390C>T (p.Ser130=)
n.405C>T
 dbSNP gnomAD v2
11g.77155922A>CCA381931037MYO7Ac.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
11g.77155922A>GCA381931039MYO7Ac.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
11g.77155922A>TCA381931041MYO7Ac.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
11g.77155923T>ACA381931044MYO7Ac.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
11g.77155923T>CCA381931045MYO7Ac.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
11g.77155923T>GCA381931046MYO7Ac.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
11g.77155923T=CA1984093664MYO7Ac.302T= (p.Ile101=)
c.269T= (p.Ile90=)
c.44T= (p.Ile15=)
n.622T=
n.624T=
c.392T= (p.Ile131=)
n.407T=
11g.77155924C>ACA475792449MYO7Ac.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
11g.77155924C=CA1984093670MYO7Ac.303C= (p.Ile101=)
c.270C= (p.Ile90=)
c.45C= (p.Ile15=)
n.623C=
n.625C=
c.393C= (p.Ile131=)
n.408C=
11g.77155924C>GCA381931048MYO7Ac.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
11g.77155924C>TCA475792448MYO7Ac.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
11g.77155925C>ACA381931050MYO7Ac.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
11g.77155925C=CA1984093676MYO7Ac.304C= (p.Leu102=)
c.271C= (p.Leu91=)
c.46C= (p.Leu16=)
n.624C=
n.626C=
c.394C= (p.Leu132=)
n.409C=
11g.77155925C>GCA381931051MYO7Ac.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
11g.77155925C>TCA475792450MYO7Ac.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
11g.77155926T>ACA381931055MYO7Ac.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
11g.77155926T>CCA381931057MYO7Ac.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
11g.77155926T>GCA381931059MYO7Ac.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
11g.77155927G>ACA475792451MYO7Ac.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
11g.77155927G>CCA475792453MYO7Ac.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
11g.77155927G>TCA475792452MYO7Ac.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
11g.77155928G>ACA381931060MYO7Ac.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
11g.77155928G>CCA381931065MYO7Ac.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
11g.77155928G>TCA381931062MYO7Ac.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
11g.77155929T>ACA381931067MYO7Ac.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
11g.77155929T>CCA381931070MYO7Ac.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
11g.77155929T>GCA381931072MYO7Ac.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
11g.77155930G>ACA475792454MYO7Ac.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
11g.77155930G>CCA475792455MYO7Ac.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
11g.77155930G=CA1984093687MYO7Ac.309G= (p.Val103=)
c.276G= (p.Val92=)
c.51G= (p.Val17=)
n.629G=
n.631G=
c.399G= (p.Val133=)
n.414G=
11g.77155930G>TCA475792456MYO7Ac.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
11g.77155931G>ACA6197102MYO7Ac.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
11g.77155931G>CCA381931077MYO7Ac.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
11g.77155931G=CA1984093691MYO7Ac.310G= (p.Ala104=)
c.277G= (p.Ala93=)
c.52G= (p.Ala18=)
n.630G=
n.632G=
c.400G= (p.Ala134=)
n.415G=
11g.77155931G>TCA381931079MYO7Ac.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
11g.77155932C>ACA381931082MYO7Ac.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
11g.77155932C>GCA381931083MYO7Ac.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
11g.77155932C>TCA381931086MYO7Ac.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
11g.77155933T>ACA475792457MYO7Ac.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
11g.77155933T>CCA6197103MYO7Ac.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
11g.77155933T>GCA475792458MYO7Ac.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
11g.77155933T=CA1984093695MYO7Ac.312T= (p.Ala104=)
c.279T= (p.Ala93=)
c.54T= (p.Ala18=)
n.632T=
n.634T=
c.402T= (p.Ala134=)
n.417T=
11g.77155933_77155934delinsTGCA1984093699MYO7Ac.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
11g.77155935_77155936delCA912973153MYO7Ac.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
11g.77155934delCA658822149MYO7Ac.313del (p.Val105Ter)
c.280del (p.Val94Ter)
c.55del (p.Val19Ter)
n.633del
n.635del
c.403del (p.Val135Ter)
n.418del
 ClinVar dbSNP
11g.77155934G>ACA381931089MYO7Ac.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
11g.77155934G>CCA381931092MYO7Ac.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
11g.77155934G=CA1984093710MYO7Ac.313G= (p.Val105=)
c.280G= (p.Val94=)
c.55G= (p.Val19=)
n.633G=
n.635G=
c.403G= (p.Val135=)
n.418G=
11g.77155934G>TCA381931094MYO7Ac.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
11g.77155935T>ACA381931099MYO7Ac.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
11g.77155935T>CCA381931097MYO7Ac.314T>C (p.Val105Ala)
c.281T>C (p.Val94Ala)
c.56T>C (p.Val19Ala)
n.634T>C
n.636T>C
c.404T>C (p.Val135Ala)
n.419T>C
11g.77155935T>GCA10577199MYO7Ac.314T>G (p.Val105Gly)
c.281T>G (p.Val94Gly)
c.56T>G (p.Val19Gly)
n.634T>G
n.636T>G
c.404T>G (p.Val135Gly)
n.419T>G
 ClinVar dbSNP
11g.77155935T=CA1984093716MYO7Ac.314T= (p.Val105=)
c.281T= (p.Val94=)
c.56T= (p.Val19=)
n.634T=
n.636T=
c.404T= (p.Val135=)
n.419T=
11g.77155936G>ACA475792459MYO7Ac.315G>A (p.Val105=)
c.282G>A (p.Val94=)
c.57G>A (p.Val19=)
n.635G>A
n.637G>A
c.405G>A (p.Val135=)
n.420G>A
 gnomAD v4
11g.77155936G>CCA475792460MYO7Ac.315G>C (p.Val105=)
c.282G>C (p.Val94=)
c.57G>C (p.Val19=)
n.635G>C
n.637G>C
c.405G>C (p.Val135=)
n.420G>C
11g.77155936G>TCA475792461MYO7Ac.315G>T (p.Val105=)
c.282G>T (p.Val94=)
c.57G>T (p.Val19=)
n.635G>T
n.637G>T
c.405G>T (p.Val135=)
n.420G>T
11g.77155937A=CA1984093719MYO7Ac.316A= (p.Asn106=)
c.283A= (p.Asn95=)
c.58A= (p.Asn20=)
n.636A=
n.638A=
c.406A= (p.Asn136=)
n.421A=
11g.77155937A>CCA381931102MYO7Ac.316A>C (p.Asn106His)
c.283A>C (p.Asn95His)
c.58A>C (p.Asn20His)
n.636A>C
n.638A>C
c.406A>C (p.Asn136His)
n.421A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77155937A>GCA381931104MYO7Ac.316A>G (p.Asn106Asp)
c.283A>G (p.Asn95Asp)
c.58A>G (p.Asn20Asp)
n.636A>G
n.638A>G
c.406A>G (p.Asn136Asp)
n.421A>G
11g.77155937A>TCA381931105MYO7Ac.316A>T (p.Asn106Tyr)
c.283A>T (p.Asn95Tyr)
c.58A>T (p.Asn20Tyr)
n.636A>T
n.638A>T
c.406A>T (p.Asn136Tyr)
n.421A>T
11g.77155938A=CA1984093720MYO7Ac.317A= (p.Asn106=)
c.284A= (p.Asn95=)
c.59A= (p.Asn20=)
n.637A=
n.639A=
c.407A= (p.Asn136=)
n.422A=
11g.77155938A>CCA381931107MYO7Ac.317A>C (p.Asn106Thr)
c.284A>C (p.Asn95Thr)
c.59A>C (p.Asn20Thr)
n.637A>C
n.639A>C
c.407A>C (p.Asn136Thr)
n.422A>C
 dbSNP COSMIC
11g.77155938A>GCA381931110MYO7Ac.317A>G (p.Asn106Ser)
c.284A>G (p.Asn95Ser)
c.59A>G (p.Asn20Ser)
n.637A>G
n.639A>G
c.407A>G (p.Asn136Ser)
n.422A>G
11g.77155938A>TCA381931113MYO7Ac.317A>T (p.Asn106Ile)
c.284A>T (p.Asn95Ile)
c.59A>T (p.Asn20Ile)
n.637A>T
n.639A>T
c.407A>T (p.Asn136Ile)
n.422A>T
11g.77155938_77155939delinsACCA1984093722MYO7Ac.317_318delinsAC (p.Asn106=)
c.284_285delinsAC (p.Asn95=)
c.59_60delinsAC (p.Asn20=)
n.637_638delinsAC
n.639_640delinsAC
c.407_408delinsAC (p.Asn136=)
n.422_423delinsAC
11g.77155941_77155946delCA2615250464MYO7Ac.320_325del (p.Pro107_Tyr108del)
c.287_292del (p.Pro96_Tyr97del)
c.62_67del (p.Pro21_Tyr22del)
n.640_645del
n.642_647del
c.410_415del (p.Pro137_Tyr138del)
n.425_430del
 gnomAD v4
11g.77155939C>ACA381931114MYO7Ac.318C>A (p.Asn106Lys)
c.285C>A (p.Asn95Lys)
c.60C>A (p.Asn20Lys)
n.638C>A
n.640C>A
c.408C>A (p.Asn136Lys)
n.423C>A
 gnomAD v4
11g.77155939C=CA1984093728MYO7Ac.318C= (p.Asn106=)
c.285C= (p.Asn95=)
c.60C= (p.Asn20=)
n.638C=
n.640C=
c.408C= (p.Asn136=)
n.423C=
11g.77155939C>GCA381931115MYO7Ac.318C>G (p.Asn106Lys)
c.285C>G (p.Asn95Lys)
c.60C>G (p.Asn20Lys)
n.638C>G
n.640C>G
c.408C>G (p.Asn136Lys)
n.423C>G
 ClinVar dbSNP gnomAD v4
11g.77155939C>TCA475792462MYO7Ac.318C>T (p.Asn106=)
c.285C>T (p.Asn95=)
c.60C>T (p.Asn20=)
n.638C>T
n.640C>T
c.408C>T (p.Asn136=)
n.423C>T
 ClinVar
11g.77155942delCA1984093727MYO7Ac.321del (p.Tyr108ThrfsTer?)
c.288del (p.Tyr97ThrfsTer?)
c.63del (p.Tyr22ThrfsTer?)
n.641del
n.643del
c.411del (p.Tyr138ThrfsTer?)
n.426del
 dbSNP
11g.77155940C>ACA381931118MYO7Ac.319C>A (p.Pro107Thr)
c.286C>A (p.Pro96Thr)
c.61C>A (p.Pro21Thr)
n.639C>A
n.641C>A
c.409C>A (p.Pro137Thr)
n.424C>A
11g.77155940C>GCA381931121MYO7Ac.319C>G (p.Pro107Ala)
c.286C>G (p.Pro96Ala)
c.61C>G (p.Pro21Ala)
n.639C>G
n.641C>G
c.409C>G (p.Pro137Ala)
n.424C>G
 gnomAD v4
11g.77155940C>TCA381931123MYO7Ac.319C>T (p.Pro107Ser)
c.286C>T (p.Pro96Ser)
c.61C>T (p.Pro21Ser)
n.639C>T
n.641C>T
c.409C>T (p.Pro137Ser)
n.424C>T
 COSMIC
11g.77155941C>ACA381931125MYO7Ac.320C>A (p.Pro107His)
c.287C>A (p.Pro96His)
c.62C>A (p.Pro21His)
n.640C>A
n.642C>A
c.410C>A (p.Pro137His)
n.425C>A
11g.77155941C>GCA381931130MYO7Ac.320C>G (p.Pro107Arg)
c.287C>G (p.Pro96Arg)
c.62C>G (p.Pro21Arg)
n.640C>G
n.642C>G
c.410C>G (p.Pro137Arg)
n.425C>G
11g.77155941C>TCA381931127MYO7Ac.320C>T (p.Pro107Leu)
c.287C>T (p.Pro96Leu)
c.62C>T (p.Pro21Leu)
n.640C>T
n.642C>T
c.410C>T (p.Pro137Leu)
n.425C>T
11g.77155942C>ACA475792465MYO7Ac.321C>A (p.Pro107=)
c.288C>A (p.Pro96=)
c.63C>A (p.Pro21=)
n.641C>A
n.643C>A
c.411C>A (p.Pro137=)
n.426C>A
11g.77155942C=CA1984093737MYO7Ac.321C= (p.Pro107=)
c.288C= (p.Pro96=)
c.63C= (p.Pro21=)
n.641C=
n.643C=
c.411C= (p.Pro137=)
n.426C=
11g.77155942C>GCA475792463MYO7Ac.321C>G (p.Pro107=)
c.288C>G (p.Pro96=)
c.63C>G (p.Pro21=)
n.641C>G
n.643C>G
c.411C>G (p.Pro137=)
n.426C>G
11g.77155942C>TCA475792464MYO7Ac.321C>T (p.Pro107=)
c.288C>T (p.Pro96=)
c.63C>T (p.Pro21=)
n.641C>T
n.643C>T
c.411C>T (p.Pro137=)
n.426C>T
11g.77155942_77155943insACA600710633MYO7Ac.321_322insA (p.Tyr108IlefsTer?)
c.288_289insA (p.Tyr97IlefsTer?)
c.63_64insA (p.Tyr22IlefsTer?)
n.641_642insA
n.643_644insA
c.411_412insA (p.Tyr138IlefsTer?)
n.426_427insA
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77155943delCA2615250499MYO7Ac.322del (p.Tyr108ThrfsTer?)
c.289del (p.Tyr97ThrfsTer?)
c.64del (p.Tyr22ThrfsTer?)
n.642del
n.644del
c.412del (p.Tyr138ThrfsTer?)
n.427del
 gnomAD v4
11g.77155943T>ACA381931134MYO7Ac.322T>A (p.Tyr108Asn)
c.289T>A (p.Tyr97Asn)
c.64T>A (p.Tyr22Asn)
n.642T>A
n.644T>A
c.412T>A (p.Tyr138Asn)
n.427T>A
11g.77155943T>CCA381931138MYO7Ac.322T>C (p.Tyr108His)
c.289T>C (p.Tyr97His)
c.64T>C (p.Tyr22His)
n.642T>C
n.644T>C
c.412T>C (p.Tyr138His)
n.427T>C
11g.77155943T>GCA381931137MYO7Ac.322T>G (p.Tyr108Asp)
c.289T>G (p.Tyr97Asp)
c.64T>G (p.Tyr22Asp)
n.642T>G
n.644T>G
c.412T>G (p.Tyr138Asp)
n.427T>G
11g.77155944A=CA1984093742MYO7Ac.323A= (p.Tyr108=)
c.290A= (p.Tyr97=)
c.65A= (p.Tyr22=)
n.643A=
n.645A=
c.413A= (p.Tyr138=)
n.428A=
11g.77155944A>CCA381931141MYO7Ac.323A>C (p.Tyr108Ser)
c.290A>C (p.Tyr97Ser)
c.65A>C (p.Tyr22Ser)
n.643A>C
n.645A>C
c.413A>C (p.Tyr138Ser)
n.428A>C
 dbSNP
11g.77155944A>GCA381931143MYO7Ac.323A>G (p.Tyr108Cys)
c.290A>G (p.Tyr97Cys)
c.65A>G (p.Tyr22Cys)
n.643A>G
n.645A>G
c.413A>G (p.Tyr138Cys)
n.428A>G
11g.77155944A>TCA381931146MYO7Ac.323A>T (p.Tyr108Phe)
c.290A>T (p.Tyr97Phe)
c.65A>T (p.Tyr22Phe)
n.643A>T
n.645A>T
c.413A>T (p.Tyr138Phe)
n.428A>T
11g.77155945C>ACA381931149MYO7Ac.324C>A (p.Tyr108Ter)
c.291C>A (p.Tyr97Ter)
c.66C>A (p.Tyr22Ter)
n.644C>A
n.646C>A
c.414C>A (p.Tyr138Ter)
n.429C>A
 ClinVar dbSNP gnomAD v4
11g.77155945C=CA1984093753MYO7Ac.324C= (p.Tyr108=)
c.291C= (p.Tyr97=)
c.66C= (p.Tyr22=)
n.644C=
n.646C=
c.414C= (p.Tyr138=)
n.429C=
11g.77155945C>GCA381931151MYO7Ac.324C>G (p.Tyr108Ter)
c.291C>G (p.Tyr97Ter)
c.66C>G (p.Tyr22Ter)
n.644C>G
n.646C>G
c.414C>G (p.Tyr138Ter)
n.429C>G
11g.77155945C>TCA132282MYO7Ac.324C>T (p.Tyr108=)
c.291C>T (p.Tyr97=)
c.66C>T (p.Tyr22=)
n.644C>T
n.646C>T
c.414C>T (p.Tyr138=)
n.429C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77155946C>ACA381931154MYO7Ac.325C>A (p.Gln109Lys)
c.292C>A (p.Gln98Lys)
c.67C>A (p.Gln23Lys)
n.645C>A
n.647C>A
c.415C>A (p.Gln139Lys)
n.430C>A
 gnomAD v4
11g.77155946C>GCA381931156MYO7Ac.325C>G (p.Gln109Glu)
c.292C>G (p.Gln98Glu)
c.67C>G (p.Gln23Glu)
n.645C>G
n.647C>G
c.415C>G (p.Gln139Glu)
n.430C>G
11g.77155946C>TCA381931158MYO7Ac.325C>T (p.Gln109Ter)
c.292C>T (p.Gln98Ter)
c.67C>T (p.Gln23Ter)
n.645C>T
n.647C>T
c.415C>T (p.Gln139Ter)
n.430C>T
 ClinVar
11g.77155947A>CCA381931159MYO7Ac.326A>C (p.Gln109Pro)
c.293A>C (p.Gln98Pro)
c.68A>C (p.Gln23Pro)
n.646A>C
n.648A>C
c.416A>C (p.Gln139Pro)
n.431A>C
11g.77155947A>GCA381931160MYO7Ac.326A>G (p.Gln109Arg)
c.293A>G (p.Gln98Arg)
c.68A>G (p.Gln23Arg)
n.646A>G
n.648A>G
c.416A>G (p.Gln139Arg)
n.431A>G
11g.77155947A>TCA381931163MYO7Ac.326A>T (p.Gln109Leu)
c.293A>T (p.Gln98Leu)
c.68A>T (p.Gln23Leu)
n.646A>T
n.648A>T
c.416A>T (p.Gln139Leu)
n.431A>T
11g.77155948G>ACA475792466MYO7Ac.327G>A (p.Gln109=)
c.294G>A (p.Gln98=)
c.69G>A (p.Gln23=)
n.647G>A
n.649G>A
c.417G>A (p.Gln139=)
n.432G>A
 gnomAD v4
11g.77155948G>CCA381931168MYO7Ac.327G>C (p.Gln109His)
c.294G>C (p.Gln98His)
c.69G>C (p.Gln23His)
n.647G>C
n.649G>C
c.417G>C (p.Gln139His)
n.432G>C
11g.77155948G>TCA381931166MYO7Ac.327G>T (p.Gln109His)
c.294G>T (p.Gln98His)
c.69G>T (p.Gln23His)
n.647G>T
n.649G>T
c.417G>T (p.Gln139His)
n.432G>T
11g.77155949C>ACA381931170MYO7Ac.328C>A (p.Leu110Met)
c.295C>A (p.Leu99Met)
c.70C>A (p.Leu24Met)
n.648C>A
n.650C>A
c.418C>A (p.Leu140Met)
n.433C>A
11g.77155949C>GCA381931172MYO7Ac.328C>G (p.Leu110Val)
c.295C>G (p.Leu99Val)
c.70C>G (p.Leu24Val)
n.648C>G
n.650C>G
c.418C>G (p.Leu140Val)
n.433C>G
 gnomAD v4
11g.77155949C>TCA475792467MYO7Ac.328C>T (p.Leu110=)
c.295C>T (p.Leu99=)
c.70C>T (p.Leu24=)
n.648C>T
n.650C>T
c.418C>T (p.Leu140=)
n.433C>T
11g.77155949dupCA2838591874MYO7Ac.328dup (p.Leu110ProfsTer30)
c.295dup (p.Leu99ProfsTer30)
c.70dup (p.Leu24ProfsTer30)
n.648dup
n.650dup
c.418dup (p.Leu140ProfsTer30)
n.433dup
11g.77155950T>ACA381931174MYO7Ac.329T>A (p.Leu110Gln)
c.296T>A (p.Leu99Gln)
c.71T>A (p.Leu24Gln)
n.649T>A
n.651T>A
c.419T>A (p.Leu140Gln)
n.434T>A
11g.77155950T>CCA381931176MYO7Ac.329T>C (p.Leu110Pro)
c.296T>C (p.Leu99Pro)
c.71T>C (p.Leu24Pro)
n.649T>C
n.651T>C
c.419T>C (p.Leu140Pro)
n.434T>C
11g.77155950T>GCA381931177MYO7Ac.329T>G (p.Leu110Arg)
c.296T>G (p.Leu99Arg)
c.71T>G (p.Leu24Arg)
n.649T>G
n.651T>G
c.419T>G (p.Leu140Arg)
n.434T>G
11g.77155951G>ACA475792468MYO7Ac.330G>A (p.Leu110=)
c.297G>A (p.Leu99=)
c.72G>A (p.Leu24=)
n.650G>A
n.652G>A
c.420G>A (p.Leu140=)
n.435G>A
11g.77155951G>CCA475792469MYO7Ac.330G>C (p.Leu110=)
c.297G>C (p.Leu99=)
c.72G>C (p.Leu24=)
n.650G>C
n.652G>C
c.420G>C (p.Leu140=)
n.435G>C
11g.77155951G>TCA475792470MYO7Ac.330G>T (p.Leu110=)
c.297G>T (p.Leu99=)
c.72G>T (p.Leu24=)
n.650G>T
n.652G>T
c.420G>T (p.Leu140=)
n.435G>T
11g.77155952C>ACA381931180MYO7Ac.331C>A (p.Leu111Ile)
c.298C>A (p.Leu100Ile)
c.73C>A (p.Leu25Ile)
n.651C>A
n.653C>A
c.421C>A (p.Leu141Ile)
n.436C>A
11g.77155952C=CA1984093763MYO7Ac.331C= (p.Leu111=)
c.298C= (p.Leu100=)
c.73C= (p.Leu25=)
n.651C=
n.653C=
c.421C= (p.Leu141=)
n.436C=
11g.77155952C>GCA381931182MYO7Ac.331C>G (p.Leu111Val)
c.298C>G (p.Leu100Val)
c.73C>G (p.Leu25Val)
n.651C>G
n.653C>G
c.421C>G (p.Leu141Val)
n.436C>G
11g.77155952C>TCA381931185MYO7Ac.331C>T (p.Leu111Phe)
c.298C>T (p.Leu100Phe)
c.73C>T (p.Leu25Phe)
n.651C>T
n.653C>T
c.421C>T (p.Leu141Phe)
n.436C>T
 dbSNP gnomAD v3 gnomAD v4
11g.77155953T>ACA381931187MYO7Ac.332T>A (p.Leu111His)
c.299T>A (p.Leu100His)
c.74T>A (p.Leu25His)
n.652T>A
n.654T>A
c.422T>A (p.Leu141His)
n.437T>A
11g.77155953T>CCA381931189MYO7Ac.332T>C (p.Leu111Pro)
c.299T>C (p.Leu100Pro)
c.74T>C (p.Leu25Pro)
n.652T>C
n.654T>C
c.422T>C (p.Leu141Pro)
n.437T>C
11g.77155953T>GCA381931192MYO7Ac.332T>G (p.Leu111Arg)
c.299T>G (p.Leu100Arg)
c.74T>G (p.Leu25Arg)
n.652T>G
n.654T>G
c.422T>G (p.Leu141Arg)
n.437T>G
11g.77155954C>ACA475792471MYO7Ac.333C>A (p.Leu111=)
c.300C>A (p.Leu100=)
c.75C>A (p.Leu25=)
n.653C>A
n.655C>A
c.423C>A (p.Leu141=)
n.438C>A
11g.77155954C=CA1984093767MYO7Ac.333C= (p.Leu111=)
c.300C= (p.Leu100=)
c.75C= (p.Leu25=)
n.653C=
n.655C=
c.423C= (p.Leu141=)
n.438C=
11g.77155954C>GCA475792472MYO7Ac.333C>G (p.Leu111=)
c.300C>G (p.Leu100=)
c.75C>G (p.Leu25=)
n.653C>G
n.655C>G
c.423C>G (p.Leu141=)
n.438C>G
11g.77155954C>TCA6197104MYO7Ac.333C>T (p.Leu111=)
c.300C>T (p.Leu100=)
c.75C>T (p.Leu25=)
n.653C>T
n.655C>T
c.423C>T (p.Leu141=)
n.438C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77155955T>ACA381931201MYO7Ac.334T>A (p.Ser112Thr)
c.301T>A (p.Ser101Thr)
c.76T>A (p.Ser26Thr)
n.654T>A
n.656T>A
c.424T>A (p.Ser142Thr)
n.439T>A
11g.77155955T>CCA381931199MYO7Ac.334T>C (p.Ser112Pro)
c.301T>C (p.Ser101Pro)
c.76T>C (p.Ser26Pro)
n.654T>C
n.656T>C
c.424T>C (p.Ser142Pro)
n.439T>C
 dbSNP
11g.77155955T>GCA381931197MYO7Ac.334T>G (p.Ser112Ala)
c.301T>G (p.Ser101Ala)
c.76T>G (p.Ser26Ala)
n.654T>G
n.656T>G
c.424T>G (p.Ser142Ala)
n.439T>G
11g.77155955T=CA1984093769MYO7Ac.334T= (p.Ser112=)
c.301T= (p.Ser101=)
c.76T= (p.Ser26=)
n.654T=
n.656T=
c.424T= (p.Ser142=)
n.439T=
11g.77155956C>ACA381931208MYO7Ac.335C>A (p.Ser112Tyr)
c.302C>A (p.Ser101Tyr)
c.77C>A (p.Ser26Tyr)
n.655C>A
n.657C>A
c.425C>A (p.Ser142Tyr)
n.440C>A
11g.77155956C>GCA381931203MYO7Ac.335C>G (p.Ser112Cys)
c.302C>G (p.Ser101Cys)
c.77C>G (p.Ser26Cys)
n.655C>G
n.657C>G
c.425C>G (p.Ser142Cys)
n.440C>G
 gnomAD v4
11g.77155956C>TCA381931204MYO7Ac.335C>T (p.Ser112Phe)
c.302C>T (p.Ser101Phe)
c.77C>T (p.Ser26Phe)
n.655C>T
n.657C>T
c.425C>T (p.Ser142Phe)
n.440C>T
11g.77155959_77155969dupCA16619409MYO7Ac.338_348dup (p.Glu117SerfsTer33)
c.305_315dup (p.Glu106SerfsTer33)
c.80_90dup (p.Glu31SerfsTer33)
n.658_668dup
n.660_670dup
c.428_438dup (p.Glu147SerfsTer33)
n.443_453dup
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77155957C>ACA475792473MYO7Ac.336C>A (p.Ser112=)
c.303C>A (p.Ser101=)
c.78C>A (p.Ser26=)
n.656C>A
n.658C>A
c.426C>A (p.Ser142=)
n.441C>A
11g.77155957C>GCA475792474MYO7Ac.336C>G (p.Ser112=)
c.303C>G (p.Ser101=)
c.78C>G (p.Ser26=)
n.656C>G
n.658C>G
c.426C>G (p.Ser142=)
n.441C>G
11g.77155957C>TCA475792475MYO7Ac.336C>T (p.Ser112=)
c.303C>T (p.Ser101=)
c.78C>T (p.Ser26=)
n.656C>T
n.658C>T
c.426C>T (p.Ser142=)
n.441C>T
 gnomAD v4
11g.77155958A=CA1984093778MYO7Ac.337A= (p.Ile113=)
c.304A= (p.Ile102=)
c.79A= (p.Ile27=)
n.657A=
n.659A=
c.427A= (p.Ile143=)
n.442A=
11g.77155958A>CCA381931210MYO7Ac.337A>C (p.Ile113Leu)
c.304A>C (p.Ile102Leu)
c.79A>C (p.Ile27Leu)
n.657A>C
n.659A>C
c.427A>C (p.Ile143Leu)
n.442A>C
11g.77155958A>GCA381931216MYO7Ac.337A>G (p.Ile113Val)
c.304A>G (p.Ile102Val)
c.79A>G (p.Ile27Val)
n.657A>G
n.659A>G
c.427A>G (p.Ile143Val)
n.442A>G
 ClinVar dbSNP
11g.77155958A>TCA381931219MYO7Ac.337A>T (p.Ile113Phe)
c.304A>T (p.Ile102Phe)
c.79A>T (p.Ile27Phe)
n.657A>T
n.659A>T
c.427A>T (p.Ile143Phe)
n.442A>T
 dbSNP
11g.77155959T>ACA381931223MYO7Ac.338T>A (p.Ile113Asn)
c.305T>A (p.Ile102Asn)
c.80T>A (p.Ile27Asn)
n.658T>A
n.660T>A
c.428T>A (p.Ile143Asn)
n.443T>A
11g.77155959T>CCA381931225MYO7Ac.338T>C (p.Ile113Thr)
c.305T>C (p.Ile102Thr)
c.80T>C (p.Ile27Thr)
n.658T>C
n.660T>C
c.428T>C (p.Ile143Thr)
n.443T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77155959T>GCA381931228MYO7Ac.338T>G (p.Ile113Ser)
c.305T>G (p.Ile102Ser)
c.80T>G (p.Ile27Ser)
n.658T>G
n.660T>G
c.428T>G (p.Ile143Ser)
n.443T>G
11g.77155959T=CA1984093782MYO7Ac.338T= (p.Ile113=)
c.305T= (p.Ile102=)
c.80T= (p.Ile27=)
n.658T=
n.660T=
c.428T= (p.Ile143=)
n.443T=
11g.77155960C>ACA475792477MYO7Ac.339C>A (p.Ile113=)
c.306C>A (p.Ile102=)
c.81C>A (p.Ile27=)
n.659C>A
n.661C>A
c.429C>A (p.Ile143=)
n.444C>A
11g.77155960C=CA1984093791MYO7Ac.339C= (p.Ile113=)
c.306C= (p.Ile102=)
c.81C= (p.Ile27=)
n.659C=
n.661C=
c.429C= (p.Ile143=)
n.444C=
11g.77155960C>GCA381931229MYO7Ac.339C>G (p.Ile113Met)
c.306C>G (p.Ile102Met)
c.81C>G (p.Ile27Met)
n.659C>G
n.661C>G
c.429C>G (p.Ile143Met)
n.444C>G
 dbSNP gnomAD v4
11g.77155960C>TCA475792476MYO7Ac.339C>T (p.Ile113=)
c.306C>T (p.Ile102=)
c.81C>T (p.Ile27=)
n.659C>T
n.661C>T
c.429C>T (p.Ile143=)
n.444C>T
11g.77155961T>ACA381931232MYO7Ac.340T>A (p.Tyr114Asn)
c.307T>A (p.Tyr103Asn)
c.82T>A (p.Tyr28Asn)
n.660T>A
n.662T>A
c.430T>A (p.Tyr144Asn)
n.445T>A
11g.77155961T>CCA381931234MYO7Ac.340T>C (p.Tyr114His)
c.307T>C (p.Tyr103His)
c.82T>C (p.Tyr28His)
n.660T>C
n.662T>C
c.430T>C (p.Tyr144His)
n.445T>C
 gnomAD v4
11g.77155961T>GCA381931236MYO7Ac.340T>G (p.Tyr114Asp)
c.307T>G (p.Tyr103Asp)
c.82T>G (p.Tyr28Asp)
n.660T>G
n.662T>G
c.430T>G (p.Tyr144Asp)
n.445T>G
11g.77155962A=CA1984093797MYO7Ac.341A= (p.Tyr114=)
c.308A= (p.Tyr103=)
c.83A= (p.Tyr28=)
n.661A=
n.663A=
c.431A= (p.Tyr144=)
n.446A=
11g.77155962A>CCA381931244MYO7Ac.341A>C (p.Tyr114Ser)
c.308A>C (p.Tyr103Ser)
c.83A>C (p.Tyr28Ser)
n.661A>C
n.663A>C
c.431A>C (p.Tyr144Ser)
n.446A>C
 dbSNP
11g.77155962A>GCA6197105MYO7Ac.341A>G (p.Tyr114Cys)
c.308A>G (p.Tyr103Cys)
c.83A>G (p.Tyr28Cys)
n.661A>G
n.663A>G
c.431A>G (p.Tyr144Cys)
n.446A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77155962A>TCA381931239MYO7Ac.341A>T (p.Tyr114Phe)
c.308A>T (p.Tyr103Phe)
c.83A>T (p.Tyr28Phe)
n.661A>T
n.663A>T
c.431A>T (p.Tyr144Phe)
n.446A>T
11g.77155963C>ACA381931247MYO7Ac.342C>A (p.Tyr114Ter)
c.309C>A (p.Tyr103Ter)
c.84C>A (p.Tyr28Ter)
n.662C>A
n.664C>A
c.432C>A (p.Tyr144Ter)
n.447C>A
 dbSNP gnomAD v2
11g.77155963C=CA1984093803MYO7Ac.342C= (p.Tyr114=)
c.309C= (p.Tyr103=)
c.84C= (p.Tyr28=)
n.662C=
n.664C=
c.432C= (p.Tyr144=)
n.447C=
11g.77155963C>GCA381931250MYO7Ac.342C>G (p.Tyr114Ter)
c.309C>G (p.Tyr103Ter)
c.84C>G (p.Tyr28Ter)
n.662C>G
n.664C>G
c.432C>G (p.Tyr144Ter)
n.447C>G
11g.77155963C>TCA6197106MYO7Ac.342C>T (p.Tyr114=)
c.309C>T (p.Tyr103=)
c.84C>T (p.Tyr28=)
n.662C>T
n.664C>T
c.432C>T (p.Tyr144=)
n.447C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77155964T>ACA381931258MYO7Ac.343T>A (p.Ser115Thr)
c.310T>A (p.Ser104Thr)
c.85T>A (p.Ser29Thr)
n.663T>A
n.665T>A
c.433T>A (p.Ser145Thr)
n.448T>A
11g.77155964T>CCA381931259MYO7Ac.343T>C (p.Ser115Pro)
c.310T>C (p.Ser104Pro)
c.85T>C (p.Ser29Pro)
n.663T>C
n.665T>C
c.433T>C (p.Ser145Pro)
n.448T>C
 dbSNP gnomAD v2
11g.77155964T>GCA381931261MYO7Ac.343T>G (p.Ser115Ala)
c.310T>G (p.Ser104Ala)
c.85T>G (p.Ser29Ala)
n.663T>G
n.665T>G
c.433T>G (p.Ser145Ala)
n.448T>G
11g.77155964T=CA1984093809MYO7Ac.343T= (p.Ser115=)
c.310T= (p.Ser104=)
c.85T= (p.Ser29=)
n.663T=
n.665T=
c.433T= (p.Ser145=)
n.448T=
11g.77155965C>ACA381931263MYO7Ac.344C>A (p.Ser115Ter)
c.311C>A (p.Ser104Ter)
c.86C>A (p.Ser29Ter)
n.664C>A
n.666C>A
c.434C>A (p.Ser145Ter)
n.449C>A
11g.77155965C=CA1984093812MYO7Ac.344C= (p.Ser115=)
c.311C= (p.Ser104=)
c.86C= (p.Ser29=)
n.664C=
n.666C=
c.434C= (p.Ser145=)
n.449C=
11g.77155965C>GCA381931265MYO7Ac.344C>G (p.Ser115Trp)
c.311C>G (p.Ser104Trp)
c.86C>G (p.Ser29Trp)
n.664C>G
n.666C>G
c.434C>G (p.Ser145Trp)
n.449C>G
11g.77155965C>TCA6197107MYO7Ac.344C>T (p.Ser115Leu)
c.311C>T (p.Ser104Leu)
c.86C>T (p.Ser29Leu)
n.664C>T
n.666C>T
c.434C>T (p.Ser145Leu)
n.449C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77155966G>ACA6197108MYO7Ac.345G>A (p.Ser115=)
c.312G>A (p.Ser104=)
c.87G>A (p.Ser29=)
n.665G>A
n.667G>A
c.435G>A (p.Ser145=)
n.450G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77155966G>CCA475792479MYO7Ac.345G>C (p.Ser115=)
c.312G>C (p.Ser104=)
c.87G>C (p.Ser29=)
n.665G>C
n.667G>C
c.435G>C (p.Ser145=)
n.450G>C
11g.77155966G=CA1984093817MYO7Ac.345G= (p.Ser115=)
c.312G= (p.Ser104=)
c.87G= (p.Ser29=)
n.665G=
n.667G=
c.435G= (p.Ser145=)
n.450G=
11g.77155966G>TCA475792478MYO7Ac.345G>T (p.Ser115=)
c.312G>T (p.Ser104=)
c.87G>T (p.Ser29=)
n.665G>T
n.667G>T
c.435G>T (p.Ser145=)
n.450G>T
 ClinVar dbSNP gnomAD v4
11g.77155967C>ACA381931270MYO7Ac.346C>A (p.Pro116Thr)
c.313C>A (p.Pro105Thr)
c.88C>A (p.Pro30Thr)
n.666C>A
n.668C>A
c.436C>A (p.Pro146Thr)
n.451C>A
11g.77155967C>GCA381931271MYO7Ac.346C>G (p.Pro116Ala)
c.313C>G (p.Pro105Ala)
c.88C>G (p.Pro30Ala)
n.666C>G
n.668C>G
c.436C>G (p.Pro146Ala)
n.451C>G
11g.77155967C>TCA381931272MYO7Ac.346C>T (p.Pro116Ser)
c.313C>T (p.Pro105Ser)
c.88C>T (p.Pro30Ser)
n.666C>T
n.668C>T
c.436C>T (p.Pro146Ser)
n.451C>T
11g.77155969_77155970insCCCACA2580084903MYO7Ac.348_349insCCCA (p.Glu117ProfsTer24)
c.315_316insCCCA (p.Glu106ProfsTer24)
c.90_91insCCCA (p.Glu31ProfsTer24)
n.668_669insCCCA
n.670_671insCCCA
c.438_439insCCCA (p.Glu147ProfsTer24)
n.453_454insCCCA
 ClinVar
11g.77155968C>ACA381931276MYO7Ac.347C>A (p.Pro116Gln)
c.314C>A (p.Pro105Gln)
c.89C>A (p.Pro30Gln)
n.667C>A
n.669C>A
c.437C>A (p.Pro146Gln)
n.452C>A
 gnomAD v4
11g.77155968C>GCA381931279MYO7Ac.347C>G (p.Pro116Arg)
c.314C>G (p.Pro105Arg)
c.89C>G (p.Pro30Arg)
n.667C>G
n.669C>G
c.437C>G (p.Pro146Arg)
n.452C>G
11g.77155968C>TCA381931273MYO7Ac.347C>T (p.Pro116Leu)
c.314C>T (p.Pro105Leu)
c.89C>T (p.Pro30Leu)
n.667C>T
n.669C>T
c.437C>T (p.Pro146Leu)
n.452C>T
 gnomAD v4
11g.77155969A>CCA475792480MYO7Ac.348A>C (p.Pro116=)
c.315A>C (p.Pro105=)
c.90A>C (p.Pro30=)
n.668A>C
n.670A>C
c.438A>C (p.Pro146=)
n.453A>C
11g.77155969A>GCA475792481MYO7Ac.348A>G (p.Pro116=)
c.315A>G (p.Pro105=)
c.90A>G (p.Pro30=)
n.668A>G
n.670A>G
c.438A>G (p.Pro146=)
n.453A>G
11g.77155969A>TCA475792482MYO7Ac.348A>T (p.Pro116=)
c.315A>T (p.Pro105=)
c.90A>T (p.Pro30=)
n.668A>T
n.670A>T
c.438A>T (p.Pro146=)
n.453A>T
11g.77155970G>ACA381931281MYO7Ac.349G>A (p.Glu117Lys)
c.316G>A (p.Glu106Lys)
c.91G>A (p.Glu31Lys)
n.669G>A
n.671G>A
c.439G>A (p.Glu147Lys)
n.454G>A
11g.77155970G>CCA381931285MYO7Ac.349G>C (p.Glu117Gln)
c.316G>C (p.Glu106Gln)
c.91G>C (p.Glu31Gln)
n.669G>C
n.671G>C
c.439G>C (p.Glu147Gln)
n.454G>C
11g.77155970G>TCA381931282MYO7Ac.349G>T (p.Glu117Ter)
c.316G>T (p.Glu106Ter)
c.91G>T (p.Glu31Ter)
n.669G>T
n.671G>T
c.439G>T (p.Glu147Ter)
n.454G>T
11g.77155971A>CCA381931288MYO7Ac.350A>C (p.Glu117Ala)
c.317A>C (p.Glu106Ala)
c.92A>C (p.Glu31Ala)
n.670A>C
n.672A>C
c.440A>C (p.Glu147Ala)
n.455A>C
11g.77155971A>GCA381931290MYO7Ac.350A>G (p.Glu117Gly)
c.317A>G (p.Glu106Gly)
c.92A>G (p.Glu31Gly)
n.670A>G
n.672A>G
c.440A>G (p.Glu147Gly)
n.455A>G
 gnomAD v4
11g.77155971A>TCA381931292MYO7Ac.350A>T (p.Glu117Val)
c.317A>T (p.Glu106Val)
c.92A>T (p.Glu31Val)
n.670A>T
n.672A>T
c.440A>T (p.Glu147Val)
n.455A>T
11g.77155972G>ACA475792483MYO7Ac.351G>A (p.Glu117=)
c.318G>A (p.Glu106=)
c.93G>A (p.Glu31=)
n.671G>A
n.673G>A
c.441G>A (p.Glu147=)
n.456G>A
11g.77155972G>CCA381931295MYO7Ac.351G>C (p.Glu117Asp)
c.318G>C (p.Glu106Asp)
c.93G>C (p.Glu31Asp)
n.671G>C
n.673G>C
c.441G>C (p.Glu147Asp)
n.456G>C
11g.77155972G=CA1984093823MYO7Ac.351G= (p.Glu117=)
c.318G= (p.Glu106=)
c.93G= (p.Glu31=)
n.671G=
n.673G=
c.441G= (p.Glu147=)
n.456G=
11g.77155972G>TCA10631556MYO7Ac.351G>T (p.Glu117Asp)
c.318G>T (p.Glu106Asp)
c.93G>T (p.Glu31Asp)
n.671G>T
n.673G>T
c.441G>T (p.Glu147Asp)
n.456G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77155973C>ACA381931299MYO7Ac.352C>A (p.His118Asn)
c.319C>A (p.His107Asn)
c.94C>A (p.His32Asn)
n.672C>A
n.674C>A
c.442C>A (p.His148Asn)
n.457C>A
11g.77155973C>GCA381931300MYO7Ac.352C>G (p.His118Asp)
c.319C>G (p.His107Asp)
c.94C>G (p.His32Asp)
n.672C>G
n.674C>G
c.442C>G (p.His148Asp)
n.457C>G
 gnomAD v4
11g.77155973C>TCA381931303MYO7Ac.352C>T (p.His118Tyr)
c.319C>T (p.His107Tyr)
c.94C>T (p.His32Tyr)
n.672C>T
n.674C>T
c.442C>T (p.His148Tyr)
n.457C>T
 gnomAD v4
11g.77155974A>CCA381931305MYO7Ac.353A>C (p.His118Pro)
c.320A>C (p.His107Pro)
c.95A>C (p.His32Pro)
n.673A>C
n.675A>C
c.443A>C (p.His148Pro)
n.458A>C
 gnomAD v4
11g.77155974A>GCA381931307MYO7Ac.353A>G (p.His118Arg)
c.320A>G (p.His107Arg)
c.95A>G (p.His32Arg)
n.673A>G
n.675A>G
c.443A>G (p.His148Arg)
n.458A>G
11g.77155974A>TCA381931309MYO7Ac.353A>T (p.His118Leu)
c.320A>T (p.His107Leu)
c.95A>T (p.His32Leu)
n.673A>T
n.675A>T
c.443A>T (p.His148Leu)
n.458A>T
11g.77155975C>ACA381931315MYO7Ac.354C>A (p.His118Gln)
c.321C>A (p.His107Gln)
c.96C>A (p.His32Gln)
n.674C>A
n.676C>A
c.444C>A (p.His148Gln)
n.459C>A
11g.77155975C=CA1984093829MYO7Ac.354C= (p.His118=)
c.321C= (p.His107=)
c.96C= (p.His32=)
n.674C=
n.676C=
c.444C= (p.His148=)
n.459C=
11g.77155975C>GCA381931311MYO7Ac.354C>G (p.His118Gln)
c.321C>G (p.His107Gln)
c.96C>G (p.His32Gln)
n.674C>G
n.676C>G
c.444C>G (p.His148Gln)
n.459C>G
11g.77155975C>TCA6197109MYO7Ac.354C>T (p.His118=)
c.321C>T (p.His107=)
c.96C>T (p.His32=)
n.674C>T
n.676C>T
c.444C>T (p.His148=)
n.459C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77155976A=CA1984093835MYO7Ac.355A= (p.Ile119=)
c.322A= (p.Ile108=)
c.97A= (p.Ile33=)
n.675A=
n.677A=
c.445A= (p.Ile149=)
n.460A=
11g.77155976A>CCA381931318MYO7Ac.355A>C (p.Ile119Leu)
c.322A>C (p.Ile108Leu)
c.97A>C (p.Ile33Leu)
n.675A>C
n.677A>C
c.445A>C (p.Ile149Leu)
n.460A>C
11g.77155976A>GCA381931324MYO7Ac.355A>G (p.Ile119Val)
c.322A>G (p.Ile108Val)
c.97A>G (p.Ile33Val)
n.675A>G
n.677A>G
c.445A>G (p.Ile149Val)
n.460A>G
11g.77155976A>TCA6197110MYO7Ac.355A>T (p.Ile119Phe)
c.322A>T (p.Ile108Phe)
c.97A>T (p.Ile33Phe)
n.675A>T
n.677A>T
c.445A>T (p.Ile149Phe)
n.460A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77155977T>ACA381931327MYO7Ac.356T>A (p.Ile119Asn)
c.323T>A (p.Ile108Asn)
c.98T>A (p.Ile33Asn)
n.676T>A
n.678T>A
c.446T>A (p.Ile149Asn)
n.461T>A
11g.77155977T>CCA381931328MYO7Ac.356T>C (p.Ile119Thr)
c.323T>C (p.Ile108Thr)
c.98T>C (p.Ile33Thr)
n.676T>C
n.678T>C
c.446T>C (p.Ile149Thr)
n.461T>C
11g.77155977T>GCA381931332MYO7Ac.356T>G (p.Ile119Ser)
c.323T>G (p.Ile108Ser)
c.98T>G (p.Ile33Ser)
n.676T>G
n.678T>G
c.446T>G (p.Ile149Ser)
n.461T>G
11g.77155978C>ACA475792484MYO7Ac.357C>A (p.Ile119=)
c.324C>A (p.Ile108=)
c.99C>A (p.Ile33=)
n.677C>A
n.679C>A
c.447C>A (p.Ile149=)
n.462C>A
 dbSNP gnomAD v2 gnomAD v4
11g.77155978C=CA1984093839MYO7Ac.357C= (p.Ile119=)
c.324C= (p.Ile108=)
c.99C= (p.Ile33=)
n.677C=
n.679C=
c.447C= (p.Ile149=)
n.462C=
11g.77155978C>GCA381931334MYO7Ac.357C>G (p.Ile119Met)
c.324C>G (p.Ile108Met)
c.99C>G (p.Ile33Met)
n.677C>G
n.679C>G
c.447C>G (p.Ile149Met)
n.462C>G
11g.77155978C>TCA475792485MYO7Ac.357C>T (p.Ile119=)
c.324C>T (p.Ile108=)
c.99C>T (p.Ile33=)
n.677C>T
n.679C>T
c.447C>T (p.Ile149=)
n.462C>T
11g.77155979delCA2573147714MYO7Ac.358del (p.Arg120AlafsTer26)
c.325del (p.Arg109AlafsTer26)
c.100del (p.Arg34AlafsTer26)
n.678del
n.680del
c.448del (p.Arg150AlafsTer26)
n.463del
 ClinVar dbSNP
11g.77155979C>ACA132295MYO7Ac.358C>A (p.Arg120Ser)
c.325C>A (p.Arg109Ser)
c.100C>A (p.Arg34Ser)
n.678C>A
n.680C>A
c.448C>A (p.Arg150Ser)
n.463C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77155979C=CA1984093843MYO7Ac.358C= (p.Arg120=)
c.325C= (p.Arg109=)
c.100C= (p.Arg34=)
n.678C=
n.680C=
c.448C= (p.Arg150=)
n.463C=
11g.77155979C>GCA381931336MYO7Ac.358C>G (p.Arg120Gly)
c.325C>G (p.Arg109Gly)
c.100C>G (p.Arg34Gly)
n.678C>G
n.680C>G
c.448C>G (p.Arg150Gly)
n.463C>G
 gnomAD v4
11g.77155979C>TCA6197111MYO7Ac.358C>T (p.Arg120Cys)
c.325C>T (p.Arg109Cys)
c.100C>T (p.Arg34Cys)
n.678C>T
n.680C>T
c.448C>T (p.Arg150Cys)
n.463C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77155980G>ACA132297MYO7Ac.359G>A (p.Arg120His)
c.326G>A (p.Arg109His)
c.101G>A (p.Arg34His)
n.679G>A
n.681G>A
c.449G>A (p.Arg150His)
n.464G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77155980G>CCA381931340MYO7Ac.359G>C (p.Arg120Pro)
c.326G>C (p.Arg109Pro)
c.101G>C (p.Arg34Pro)
n.679G>C
n.681G>C
c.449G>C (p.Arg150Pro)
n.464G>C
11g.77155980G=CA1984093860MYO7Ac.359G= (p.Arg120=)
c.326G= (p.Arg109=)
c.101G= (p.Arg34=)
n.679G=
n.681G=
c.449G= (p.Arg150=)
n.464G=
11g.77155980G>TCA381931338MYO7Ac.359G>T (p.Arg120Leu)
c.326G>T (p.Arg109Leu)
c.101G>T (p.Arg34Leu)
n.679G>T
n.681G>T
c.449G>T (p.Arg150Leu)
n.464G>T
11g.77155980_77155981delinsGCCA1984093858MYO7Ac.359_360delinsGC (p.Arg120=)
c.326_327delinsGC (p.Arg109=)
c.101_102delinsGC (p.Arg34=)
n.679_680delinsGC
n.681_682delinsGC
c.449_450delinsGC (p.Arg150=)
n.464_465delinsGC
11g.77155981C>ACA475792486MYO7Ac.360C>A (p.Arg120=)
c.327C>A (p.Arg109=)
c.102C>A (p.Arg34=)
n.680C>A
n.682C>A
c.450C>A (p.Arg150=)
n.465C>A
11g.77155981C>GCA475792487MYO7Ac.360C>G (p.Arg120=)
c.327C>G (p.Arg109=)
c.102C>G (p.Arg34=)
n.680C>G
n.682C>G
c.450C>G (p.Arg150=)
n.465C>G
11g.77155981C>TCA475792488MYO7Ac.360C>T (p.Arg120=)
c.327C>T (p.Arg109=)
c.102C>T (p.Arg34=)
n.680C>T
n.682C>T
c.450C>T (p.Arg150=)
n.465C>T
 gnomAD v4
11g.77155982delCA939788332MYO7Ac.361del (p.Gln121SerfsTer25)
c.328del (p.Gln110SerfsTer25)
c.103del (p.Gln35SerfsTer25)
n.681del
n.683del
c.451del (p.Gln151SerfsTer25)
n.466del
 dbSNP gnomAD v3 gnomAD v4
11g.77155982C>ACA381931343MYO7Ac.361C>A (p.Gln121Lys)
c.328C>A (p.Gln110Lys)
c.103C>A (p.Gln35Lys)
n.681C>A
n.683C>A
c.451C>A (p.Gln151Lys)
n.466C>A
11g.77155982C>GCA381931344MYO7Ac.361C>G (p.Gln121Glu)
c.328C>G (p.Gln110Glu)
c.103C>G (p.Gln35Glu)
n.681C>G
n.683C>G
c.451C>G (p.Gln151Glu)
n.466C>G
11g.77155982C>TCA381931345MYO7Ac.361C>T (p.Gln121Ter)
c.328C>T (p.Gln110Ter)
c.103C>T (p.Gln35Ter)
n.681C>T
n.683C>T
c.451C>T (p.Gln151Ter)
n.466C>T
11g.77155983A>CCA381931347MYO7Ac.362A>C (p.Gln121Pro)
c.329A>C (p.Gln110Pro)
c.104A>C (p.Gln35Pro)
n.682A>C
n.684A>C
c.452A>C (p.Gln151Pro)
n.467A>C
11g.77155983A>GCA381931349MYO7Ac.362A>G (p.Gln121Arg)
c.329A>G (p.Gln110Arg)
c.104A>G (p.Gln35Arg)
n.682A>G
n.684A>G
c.452A>G (p.Gln151Arg)
n.467A>G
11g.77155983A>TCA381931351MYO7Ac.362A>T (p.Gln121Leu)
c.329A>T (p.Gln110Leu)
c.104A>T (p.Gln35Leu)
n.682A>T
n.684A>T
c.452A>T (p.Gln151Leu)
n.467A>T
11g.77155984G>ACA6197112MYO7Ac.363G>A (p.Gln121=)
c.330G>A (p.Gln110=)
c.105G>A (p.Gln35=)
n.683G>A
n.685G>A
c.453G>A (p.Gln151=)
n.468G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77155984G>CCA381931353MYO7Ac.363G>C (p.Gln121His)
c.330G>C (p.Gln110His)
c.105G>C (p.Gln35His)
n.683G>C
n.685G>C
c.453G>C (p.Gln151His)
n.468G>C
11g.77155984G=CA1984093867MYO7Ac.363G= (p.Gln121=)
c.330G= (p.Gln110=)
c.105G= (p.Gln35=)
n.683G=
n.685G=
c.453G= (p.Gln151=)
n.468G=
11g.77155984G>TCA381931355MYO7Ac.363G>T (p.Gln121His)
c.330G>T (p.Gln110His)
c.105G>T (p.Gln35His)
n.683G>T
n.685G>T
c.453G>T (p.Gln151His)
n.468G>T
11g.77155985T>ACA381931356MYO7Ac.364T>A (p.Tyr122Asn)
c.331T>A (p.Tyr111Asn)
c.106T>A (p.Tyr36Asn)
n.684T>A
n.686T>A
c.454T>A (p.Tyr152Asn)
n.469T>A
11g.77155985T>CCA381931357MYO7Ac.364T>C (p.Tyr122His)
c.331T>C (p.Tyr111His)
c.106T>C (p.Tyr36His)
n.684T>C
n.686T>C
c.454T>C (p.Tyr152His)
n.469T>C
11g.77155985T>GCA381931359MYO7Ac.364T>G (p.Tyr122Asp)
c.331T>G (p.Tyr111Asp)
c.106T>G (p.Tyr36Asp)
n.684T>G
n.686T>G
c.454T>G (p.Tyr152Asp)
n.469T>G
11g.77155986A=CA1984093874MYO7Ac.365A= (p.Tyr122=)
c.332A= (p.Tyr111=)
c.107A= (p.Tyr36=)
n.685A=
n.687A=
c.455A= (p.Tyr152=)
n.470A=
11g.77155986A>CCA381931363MYO7Ac.365A>C (p.Tyr122Ser)
c.332A>C (p.Tyr111Ser)
c.107A>C (p.Tyr36Ser)
n.685A>C
n.687A>C
c.455A>C (p.Tyr152Ser)
n.470A>C
11g.77155986A>GCA6197113MYO7Ac.365A>G (p.Tyr122Cys)
c.332A>G (p.Tyr111Cys)
c.107A>G (p.Tyr36Cys)
n.685A>G
n.687A>G
c.455A>G (p.Tyr152Cys)
n.470A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77155986A>TCA381931361MYO7Ac.365A>T (p.Tyr122Phe)
c.332A>T (p.Tyr111Phe)
c.107A>T (p.Tyr36Phe)
n.685A>T
n.687A>T
c.455A>T (p.Tyr152Phe)
n.470A>T
11g.77155987T>ACA381931365MYO7Ac.366T>A (p.Tyr122Ter)
c.333T>A (p.Tyr111Ter)
c.108T>A (p.Tyr36Ter)
n.686T>A
n.688T>A
c.456T>A (p.Tyr152Ter)
n.471T>A
11g.77155987T>CCA475792489MYO7Ac.366T>C (p.Tyr122=)
c.333T>C (p.Tyr111=)
c.108T>C (p.Tyr36=)
n.686T>C
n.688T>C
c.456T>C (p.Tyr152=)
n.471T>C
 dbSNP gnomAD v3 gnomAD v4
11g.77155987T>GCA381931367MYO7Ac.366T>G (p.Tyr122Ter)
c.333T>G (p.Tyr111Ter)
c.108T>G (p.Tyr36Ter)
n.686T>G
n.688T>G
c.456T>G (p.Tyr152Ter)
n.471T>G
11g.77155987T=CA1984093880MYO7Ac.366T= (p.Tyr122=)
c.333T= (p.Tyr111=)
c.108T= (p.Tyr36=)
n.686T=
n.688T=
c.456T= (p.Tyr152=)
n.471T=
11g.77155988A>CCA381931368MYO7Ac.367A>C (p.Thr123Pro)
c.334A>C (p.Thr112Pro)
c.109A>C (p.Thr37Pro)
n.687A>C
n.689A>C
c.457A>C (p.Thr153Pro)
n.472A>C
11g.77155988A>GCA381931369MYO7Ac.367A>G (p.Thr123Ala)
c.334A>G (p.Thr112Ala)
c.109A>G (p.Thr37Ala)
n.687A>G
n.689A>G
c.457A>G (p.Thr153Ala)
n.472A>G
 gnomAD v4
11g.77155988A>TCA381931370MYO7Ac.367A>T (p.Thr123Ser)
c.334A>T (p.Thr112Ser)
c.109A>T (p.Thr37Ser)
n.687A>T
n.689A>T
c.457A>T (p.Thr153Ser)
n.472A>T
11g.77155989C>ACA381931373MYO7Ac.368C>A (p.Thr123Asn)
c.335C>A (p.Thr112Asn)
c.110C>A (p.Thr37Asn)
n.688C>A
n.690C>A
c.458C>A (p.Thr153Asn)
n.473C>A
 gnomAD v4
11g.77155989C=CA1984093890MYO7Ac.368C= (p.Thr123=)
c.335C= (p.Thr112=)
c.110C= (p.Thr37=)
n.688C=
n.690C=
c.458C= (p.Thr153=)
n.473C=
11g.77155989C>GCA381931371MYO7Ac.368C>G (p.Thr123Ser)
c.335C>G (p.Thr112Ser)
c.110C>G (p.Thr37Ser)
n.688C>G
n.690C>G
c.458C>G (p.Thr153Ser)
n.473C>G
 dbSNP
11g.77155989C>TCA6197114MYO7Ac.368C>T (p.Thr123Ile)
c.335C>T (p.Thr112Ile)
c.110C>T (p.Thr37Ile)
n.688C>T
n.690C>T
c.458C>T (p.Thr153Ile)
n.473C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77155990C>ACA475792490MYO7Ac.369C>A (p.Thr123=)
c.336C>A (p.Thr112=)
c.111C>A (p.Thr37=)
n.689C>A
n.691C>A
c.459C>A (p.Thr153=)
n.474C>A
11g.77155990C=CA1984093893MYO7Ac.369C= (p.Thr123=)
c.336C= (p.Thr112=)
c.111C= (p.Thr37=)
n.689C=
n.691C=
c.459C= (p.Thr153=)
n.474C=
11g.77155990C>GCA475792491MYO7Ac.369C>G (p.Thr123=)
c.336C>G (p.Thr112=)
c.111C>G (p.Thr37=)
n.689C>G
n.691C>G
c.459C>G (p.Thr153=)
n.474C>G
 gnomAD v4
11g.77155990C>TCA475792492MYO7Ac.369C>T (p.Thr123=)
c.336C>T (p.Thr112=)
c.111C>T (p.Thr37=)
n.689C>T
n.691C>T
c.459C>T (p.Thr153=)
n.474C>T
 dbSNP gnomAD v2 gnomAD v4
11g.77155991A>CCA381931375MYO7Ac.370A>C (p.Asn124His)
c.337A>C (p.Asn113His)
c.112A>C (p.Asn38His)
n.690A>C
n.692A>C
c.460A>C (p.Asn154His)
n.475A>C
11g.77155991A>GCA381931376MYO7Ac.370A>G (p.Asn124Asp)
c.337A>G (p.Asn113Asp)
c.112A>G (p.Asn38Asp)
n.690A>G
n.692A>G
c.460A>G (p.Asn154Asp)
n.475A>G
11g.77155991A>TCA381931377MYO7Ac.370A>T (p.Asn124Tyr)
c.337A>T (p.Asn113Tyr)
c.112A>T (p.Asn38Tyr)
n.690A>T
n.692A>T
c.460A>T (p.Asn154Tyr)
n.475A>T
11g.77155992A>CCA381931378MYO7Ac.371A>C (p.Asn124Thr)
c.338A>C (p.Asn113Thr)
c.113A>C (p.Asn38Thr)
n.691A>C
n.693A>C
c.461A>C (p.Asn154Thr)
n.476A>C
11g.77155992A>GCA381931379MYO7Ac.371A>G (p.Asn124Ser)
c.338A>G (p.Asn113Ser)
c.113A>G (p.Asn38Ser)
n.691A>G
n.693A>G
c.461A>G (p.Asn154Ser)
n.476A>G
11g.77155992A>TCA381931381MYO7Ac.371A>T (p.Asn124Ile)
c.338A>T (p.Asn113Ile)
c.113A>T (p.Asn38Ile)
n.691A>T
n.693A>T
c.461A>T (p.Asn154Ile)
n.476A>T
11g.77155993C>ACA6197115MYO7Ac.372C>A (p.Asn124Lys)
c.339C>A (p.Asn113Lys)
c.114C>A (p.Asn38Lys)
n.692C>A
n.694C>A
c.462C>A (p.Asn154Lys)
n.477C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77155993C=CA1984093895MYO7Ac.372C= (p.Asn124=)
c.339C= (p.Asn113=)
c.114C= (p.Asn38=)
n.692C=
n.694C=
c.462C= (p.Asn154=)
n.477C=
11g.77155993C>GCA381931383MYO7Ac.372C>G (p.Asn124Lys)
c.339C>G (p.Asn113Lys)
c.114C>G (p.Asn38Lys)
n.692C>G
n.694C>G
c.462C>G (p.Asn154Lys)
n.477C>G
11g.77155993C>TCA475792493MYO7Ac.372C>T (p.Asn124=)
c.339C>T (p.Asn113=)
c.114C>T (p.Asn38=)
n.692C>T
n.694C>T
c.462C>T (p.Asn154=)
n.477C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77155994A=CA1984093900MYO7Ac.373A= (p.Lys125=)
c.340A= (p.Lys114=)
c.115A= (p.Lys39=)
n.693A=
n.695A=
c.463A= (p.Lys155=)
n.478A=
11g.77155994A>CCA381931385MYO7Ac.373A>C (p.Lys125Gln)
c.340A>C (p.Lys114Gln)
c.115A>C (p.Lys39Gln)
n.693A>C
n.695A>C
c.463A>C (p.Lys155Gln)
n.478A>C
11g.77155994A>GCA381931389MYO7Ac.373A>G (p.Lys125Glu)
c.340A>G (p.Lys114Glu)
c.115A>G (p.Lys39Glu)
n.693A>G
n.695A>G
c.463A>G (p.Lys155Glu)
n.478A>G
 dbSNP gnomAD v3 gnomAD v4
11g.77155994A>TCA381931387MYO7Ac.373A>T (p.Lys125Ter)
c.340A>T (p.Lys114Ter)
c.115A>T (p.Lys39Ter)
n.693A>T
n.695A>T
c.463A>T (p.Lys155Ter)
n.478A>T
11g.77155995A=CA1984093910MYO7Ac.374A= (p.Lys125=)
c.341A= (p.Lys114=)
c.116A= (p.Lys39=)
n.694A=
n.696A=
c.464A= (p.Lys155=)
n.479A=
11g.77155995A>CCA381931391MYO7Ac.374A>C (p.Lys125Thr)
c.341A>C (p.Lys114Thr)
c.116A>C (p.Lys39Thr)
n.694A>C
n.696A>C
c.464A>C (p.Lys155Thr)
n.479A>C
11g.77155995A>GCA224826282MYO7Ac.374A>G (p.Lys125Arg)
c.341A>G (p.Lys114Arg)
c.116A>G (p.Lys39Arg)
n.694A>G
n.696A>G
c.464A>G (p.Lys155Arg)
n.479A>G
 dbSNP gnomAD v3 gnomAD v4
11g.77155995A>TCA381931393MYO7Ac.374A>T (p.Lys125Met)
c.341A>T (p.Lys114Met)
c.116A>T (p.Lys39Met)
n.694A>T
n.696A>T
c.464A>T (p.Lys155Met)
n.479A>T
11g.77155996G>ACA6197116MYO7Ac.375G>A (p.Lys125=)
c.342G>A (p.Lys114=)
c.117G>A (p.Lys39=)
n.695G>A
n.697G>A
c.465G>A (p.Lys155=)
n.480G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77155996G>CCA381931400MYO7Ac.375G>C (p.Lys125Asn)
c.342G>C (p.Lys114Asn)
c.117G>C (p.Lys39Asn)
n.695G>C
n.697G>C
c.465G>C (p.Lys155Asn)
n.480G>C
11g.77155996G=CA1984093916MYO7Ac.375G= (p.Lys125=)
c.342G= (p.Lys114=)
c.117G= (p.Lys39=)
n.695G=
n.697G=
c.465G= (p.Lys155=)
n.480G=
11g.77155996G>TCA381931396MYO7Ac.375G>T (p.Lys125Asn)
c.342G>T (p.Lys114Asn)
c.117G>T (p.Lys39Asn)
n.695G>T
n.697G>T
c.465G>T (p.Lys155Asn)
n.480G>T
11g.77155997A>CCA381931402MYO7Ac.376A>C (p.Lys126Gln)
c.343A>C (p.Lys115Gln)
c.118A>C (p.Lys40Gln)
n.696A>C
n.698A>C
c.466A>C (p.Lys156Gln)
n.481A>C
 gnomAD v4
11g.77155997A>GCA381931404MYO7Ac.376A>G (p.Lys126Glu)
c.343A>G (p.Lys115Glu)
c.118A>G (p.Lys40Glu)
n.696A>G
n.698A>G
c.466A>G (p.Lys156Glu)
n.481A>G
11g.77155997A>TCA381931406MYO7Ac.376A>T (p.Lys126Ter)
c.343A>T (p.Lys115Ter)
c.118A>T (p.Lys40Ter)
n.696A>T
n.698A>T
c.466A>T (p.Lys156Ter)
n.481A>T
 ClinVar dbSNP
11g.77155998dupCA2842928933MYO7Ac.377dup (p.Ile127AspfsTer13)
c.344dup (p.Ile116AspfsTer13)
c.119dup (p.Ile41AspfsTer13)
n.697dup
n.699dup
c.467dup (p.Ile157AspfsTer13)
n.482dup
11g.77155998A>CCA381931407MYO7Ac.377A>C (p.Lys126Thr)
c.344A>C (p.Lys115Thr)
c.119A>C (p.Lys40Thr)
n.697A>C
n.699A>C
c.467A>C (p.Lys156Thr)
n.482A>C
11g.77155998A>GCA381931408MYO7Ac.377A>G (p.Lys126Arg)
c.344A>G (p.Lys115Arg)
c.119A>G (p.Lys40Arg)
n.697A>G
n.699A>G
c.467A>G (p.Lys156Arg)
n.482A>G
11g.77155998A>TCA381931409MYO7Ac.377A>T (p.Lys126Met)
c.344A>T (p.Lys115Met)
c.119A>T (p.Lys40Met)
n.697A>T
n.699A>T
c.467A>T (p.Lys156Met)
n.482A>T
11g.77155999G>ACA475792494MYO7Ac.378G>A (p.Lys126=)
c.345G>A (p.Lys115=)
c.120G>A (p.Lys40=)
n.698G>A
n.700G>A
c.468G>A (p.Lys156=)
n.483G>A
11g.77155999G>CCA381931411MYO7Ac.378G>C (p.Lys126Asn)
c.345G>C (p.Lys115Asn)
c.120G>C (p.Lys40Asn)
n.698G>C
n.700G>C
c.468G>C (p.Lys156Asn)
n.483G>C
11g.77155999G>TCA381931413MYO7Ac.378G>T (p.Lys126Asn)
c.345G>T (p.Lys115Asn)
c.120G>T (p.Lys40Asn)
n.698G>T
n.700G>T
c.468G>T (p.Lys156Asn)
n.483G>T
11g.77156000A>CCA381931414MYO7Ac.379A>C (p.Ile127Leu)
c.346A>C (p.Ile116Leu)
c.121A>C (p.Ile41Leu)
n.699A>C
n.701A>C
c.469A>C (p.Ile157Leu)
n.484A>C
11g.77156000A>GCA381931416MYO7Ac.379A>G (p.Ile127Val)
c.346A>G (p.Ile116Val)
c.121A>G (p.Ile41Val)
n.699A>G
n.701A>G
c.469A>G (p.Ile157Val)
n.484A>G
 ClinVar
11g.77156000A>TCA381931417MYO7Ac.379A>T (p.Ile127Phe)
c.346A>T (p.Ile116Phe)
c.121A>T (p.Ile41Phe)
n.699A>T
n.701A>T
c.469A>T (p.Ile157Phe)
n.484A>T
11g.77156001T>ACA381931419MYO7Ac.380T>A (p.Ile127Asn)
c.347T>A (p.Ile116Asn)
c.122T>A (p.Ile41Asn)
n.700T>A
n.702T>A
c.470T>A (p.Ile157Asn)
n.485T>A
11g.77156001T>CCA132306MYO7Ac.380T>C (p.Ile127Thr)
c.347T>C (p.Ile116Thr)
c.122T>C (p.Ile41Thr)
n.700T>C
n.702T>C
c.470T>C (p.Ile157Thr)
n.485T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156001T>GCA381931420MYO7Ac.380T>G (p.Ile127Ser)
c.347T>G (p.Ile116Ser)
c.122T>G (p.Ile41Ser)
n.700T>G
n.702T>G
c.470T>G (p.Ile157Ser)
n.485T>G
11g.77156001T=CA1984093935MYO7Ac.380T= (p.Ile127=)
c.347T= (p.Ile116=)
c.122T= (p.Ile41=)
n.700T=
n.702T=
c.470T= (p.Ile157=)
n.485T=
11g.77156002T>ACA475792495MYO7Ac.381T>A (p.Ile127=)
c.348T>A (p.Ile116=)
c.123T>A (p.Ile41=)
n.701T>A
n.703T>A
c.471T>A (p.Ile157=)
n.486T>A
11g.77156002T>CCA6197117MYO7Ac.381T>C (p.Ile127=)
c.348T>C (p.Ile116=)
c.123T>C (p.Ile41=)
n.701T>C
n.703T>C
c.471T>C (p.Ile157=)
n.486T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77156002T>GCA381931422MYO7Ac.381T>G (p.Ile127Met)
c.348T>G (p.Ile116Met)
c.123T>G (p.Ile41Met)
n.701T>G
n.703T>G
c.471T>G (p.Ile157Met)
n.486T>G
11g.77156002T=CA1984093946MYO7Ac.381T= (p.Ile127=)
c.348T= (p.Ile116=)
c.123T= (p.Ile41=)
n.701T=
n.703T=
c.471T= (p.Ile157=)
n.486T=
11g.77156003G>ACA381931425MYO7Ac.382G>A (p.Gly128Arg)
c.349G>A (p.Gly117Arg)
c.124G>A (p.Gly42Arg)
n.702G>A
n.704G>A
c.472G>A (p.Gly158Arg)
n.487G>A
11g.77156003G>CCA381931426MYO7Ac.382G>C (p.Gly128Arg)
c.349G>C (p.Gly117Arg)
c.124G>C (p.Gly42Arg)
n.702G>C
n.704G>C
c.472G>C (p.Gly158Arg)
n.487G>C
11g.77156003G>TCA381931427MYO7Ac.382G>T (p.Gly128Trp)
c.349G>T (p.Gly117Trp)
c.124G>T (p.Gly42Trp)
n.702G>T
n.704G>T
c.472G>T (p.Gly158Trp)
n.487G>T
11g.77156006dupCA2838591870MYO7Ac.385dup (p.Glu129GlyfsTer11)
c.352dup (p.Glu118GlyfsTer11)
c.127dup (p.Glu43GlyfsTer11)
n.705dup
n.707dup
c.475dup (p.Glu159GlyfsTer11)
n.490dup
11g.77156004G>ACA381931428MYO7Ac.383G>A (p.Gly128Glu)
c.350G>A (p.Gly117Glu)
c.125G>A (p.Gly42Glu)
n.703G>A
n.705G>A
c.473G>A (p.Gly158Glu)
n.488G>A
 dbSNP gnomAD v2 gnomAD v4
11g.77156004G>CCA381931430MYO7Ac.383G>C (p.Gly128Ala)
c.350G>C (p.Gly117Ala)
c.125G>C (p.Gly42Ala)
n.703G>C
n.705G>C
c.473G>C (p.Gly158Ala)
n.488G>C
11g.77156004G=CA1984093951MYO7Ac.383G= (p.Gly128=)
c.350G= (p.Gly117=)
c.125G= (p.Gly42=)
n.703G=
n.705G=
c.473G= (p.Gly158=)
n.488G=
11g.77156004G>TCA381931432MYO7Ac.383G>T (p.Gly128Val)
c.350G>T (p.Gly117Val)
c.125G>T (p.Gly42Val)
n.703G>T
n.705G>T
c.473G>T (p.Gly158Val)
n.488G>T
11g.77156005G>ACA475792496MYO7Ac.384G>A (p.Gly128=)
c.351G>A (p.Gly117=)
c.126G>A (p.Gly42=)
n.704G>A
n.706G>A
c.474G>A (p.Gly158=)
n.489G>A
 COSMIC
11g.77156005G>CCA475792497MYO7Ac.384G>C (p.Gly128=)
c.351G>C (p.Gly117=)
c.126G>C (p.Gly42=)
n.704G>C
n.706G>C
c.474G>C (p.Gly158=)
n.489G>C
 dbSNP
11g.77156005G=CA1984093954MYO7Ac.384G= (p.Gly128=)
c.351G= (p.Gly117=)
c.126G= (p.Gly42=)
n.704G=
n.706G=
c.474G= (p.Gly158=)
n.489G=
11g.77156005G>TCA475792498MYO7Ac.384G>T (p.Gly128=)
c.351G>T (p.Gly117=)
c.126G>T (p.Gly42=)
n.704G>T
n.706G>T
c.474G>T (p.Gly158=)
n.489G>T
11g.77156006G>ACA381931435MYO7Ac.385G>A (p.Glu129Lys)
c.352G>A (p.Glu118Lys)
c.127G>A (p.Glu43Lys)
n.705G>A
n.707G>A
c.475G>A (p.Glu159Lys)
n.490G>A
 dbSNP
11g.77156006G>CCA381931436MYO7Ac.385G>C (p.Glu129Gln)
c.352G>C (p.Glu118Gln)
c.127G>C (p.Glu43Gln)
n.705G>C
n.707G>C
c.475G>C (p.Glu159Gln)
n.490G>C
11g.77156006G=CA1984093967MYO7Ac.385G= (p.Glu129=)
c.352G= (p.Glu118=)
c.127G= (p.Glu43=)
n.705G=
n.707G=
c.475G= (p.Glu159=)
n.490G=
11g.77156006G>TCA381931434MYO7Ac.385G>T (p.Glu129Ter)
c.352G>T (p.Glu118Ter)
c.127G>T (p.Glu43Ter)
n.705G>T
n.707G>T
c.475G>T (p.Glu159Ter)
n.490G>T
 ClinVar dbSNP
11g.77156007A>CCA381931438MYO7Ac.386A>C (p.Glu129Ala)
c.353A>C (p.Glu118Ala)
c.128A>C (p.Glu43Ala)
n.706A>C
n.708A>C
c.476A>C (p.Glu159Ala)
n.491A>C
11g.77156007A>GCA381931439MYO7Ac.386A>G (p.Glu129Gly)
c.353A>G (p.Glu118Gly)
c.128A>G (p.Glu43Gly)
n.706A>G
n.708A>G
c.476A>G (p.Glu159Gly)
n.491A>G
11g.77156007A>TCA381931441MYO7Ac.386A>T (p.Glu129Val)
c.353A>T (p.Glu118Val)
c.128A>T (p.Glu43Val)
n.706A>T
n.708A>T
c.476A>T (p.Glu159Val)
n.491A>T
11g.77156008G>ACA475792499MYO7Ac.387G>A (p.Glu129=)
c.354G>A (p.Glu118=)
c.129G>A (p.Glu43=)
n.707G>A
n.709G>A
c.477G>A (p.Glu159=)
n.492G>A
11g.77156008G>CCA381931442MYO7Ac.387G>C (p.Glu129Asp)
c.354G>C (p.Glu118Asp)
c.129G>C (p.Glu43Asp)
n.707G>C
n.709G>C
c.477G>C (p.Glu159Asp)
n.492G>C
11g.77156008G>TCA381931444MYO7Ac.387G>T (p.Glu129Asp)
c.354G>T (p.Glu118Asp)
c.129G>T (p.Glu43Asp)
n.707G>T
n.709G>T
c.477G>T (p.Glu159Asp)
n.492G>T
11g.77156009A=CA1984093987MYO7Ac.388A= (p.Met130=)
c.355A= (p.Met119=)
c.130A= (p.Met44=)
n.708A=
n.710A=
c.478A= (p.Met160=)
n.493A=
11g.77156009A>CCA381931446MYO7Ac.388A>C (p.Met130Leu)
c.355A>C (p.Met119Leu)
c.130A>C (p.Met44Leu)
n.708A>C
n.710A>C
c.478A>C (p.Met160Leu)
n.493A>C
11g.77156009A>GCA6197118MYO7Ac.388A>G (p.Met130Val)
c.355A>G (p.Met119Val)
c.130A>G (p.Met44Val)
n.708A>G
n.710A>G
c.478A>G (p.Met160Val)
n.493A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77156009A>TCA381931448MYO7Ac.388A>T (p.Met130Leu)
c.355A>T (p.Met119Leu)
c.130A>T (p.Met44Leu)
n.708A>T
n.710A>T
c.478A>T (p.Met160Leu)
n.493A>T
 ClinVar gnomAD v4
11g.77156010T>ACA381931450MYO7Ac.389T>A (p.Met130Lys)
c.356T>A (p.Met119Lys)
c.131T>A (p.Met44Lys)
n.709T>A
n.711T>A
c.479T>A (p.Met160Lys)
n.494T>A
11g.77156010T>CCA381931452MYO7Ac.389T>C (p.Met130Thr)
c.356T>C (p.Met119Thr)
c.131T>C (p.Met44Thr)
n.709T>C
n.711T>C
c.479T>C (p.Met160Thr)
n.494T>C
11g.77156010T>GCA381931453MYO7Ac.389T>G (p.Met130Arg)
c.356T>G (p.Met119Arg)
c.131T>G (p.Met44Arg)
n.709T>G
n.711T>G
c.479T>G (p.Met160Arg)
n.494T>G
11g.77156011G>ACA381931461MYO7Ac.390G>A (p.Met130Ile)
c.357G>A (p.Met119Ile)
c.132G>A (p.Met44Ile)
n.710G>A
n.712G>A
c.480G>A (p.Met160Ile)
n.495G>A
11g.77156011G>CCA381931459MYO7Ac.390G>C (p.Met130Ile)
c.357G>C (p.Met119Ile)
c.132G>C (p.Met44Ile)
n.710G>C
n.712G>C
c.480G>C (p.Met160Ile)
n.495G>C
 gnomAD v4
11g.77156011G>TCA381931455MYO7Ac.390G>T (p.Met130Ile)
c.357G>T (p.Met119Ile)
c.132G>T (p.Met44Ile)
n.710G>T
n.712G>T
c.480G>T (p.Met160Ile)
n.495G>T
 gnomAD v4
11g.77156011_77156012delinsGCCA1984093994MYO7Ac.390_391delinsGC (p.Met130=)
c.357_358delinsGC (p.Met119=)
c.132_133delinsGC (p.Met44=)
n.710_711delinsGC
n.712_713delinsGC
c.480_481delinsGC (p.Met160=)
n.495_496delinsGC
11g.77156012C>ACA381931464MYO7Ac.391C>A (p.Pro131Thr)
c.358C>A (p.Pro120Thr)
c.133C>A (p.Pro45Thr)
n.711C>A
n.713C>A
c.481C>A (p.Pro161Thr)
n.496C>A
11g.77156012C=CA1984094021MYO7Ac.391C= (p.Pro131=)
c.358C= (p.Pro120=)
c.133C= (p.Pro45=)
n.711C=
n.713C=
c.481C= (p.Pro161=)
n.496C=
11g.77156012C>GCA381931465MYO7Ac.391C>G (p.Pro131Ala)
c.358C>G (p.Pro120Ala)
c.133C>G (p.Pro45Ala)
n.711C>G
n.713C>G
c.481C>G (p.Pro161Ala)
n.496C>G
11g.77156012C>TCA6197119MYO7Ac.391C>T (p.Pro131Ser)
c.358C>T (p.Pro120Ser)
c.133C>T (p.Pro45Ser)
n.711C>T
n.713C>T
c.481C>T (p.Pro161Ser)
n.496C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156018dupCA278662MYO7Ac.397dup (p.His133ProfsTer7)
c.364dup (p.His122ProfsTer7)
c.139dup (p.His47ProfsTer7)
n.717dup
n.719dup
c.487dup (p.His163ProfsTer7)
n.502dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77156017_77156018dupCA2615250884MYO7Ac.396_397dup (p.His133ProfsTer14)
c.363_364dup (p.His122ProfsTer14)
c.138_139dup (p.His47ProfsTer14)
n.716_717dup
n.718_719dup
c.486_487dup (p.His163ProfsTer14)
n.501_502dup
 gnomAD v4
11g.77156018delCA475792500MYO7Ac.397del (p.His133ThrfsTer13)
c.364del (p.His122ThrfsTer13)
c.139del (p.His47ThrfsTer13)
n.717del
n.719del
c.487del (p.His163ThrfsTer13)
n.502del
 ClinVar dbSNP gnomAD v4 COSMIC
11g.77156013C>ACA381931468MYO7Ac.392C>A (p.Pro131His)
c.359C>A (p.Pro120His)
c.134C>A (p.Pro45His)
n.712C>A
n.714C>A
c.482C>A (p.Pro161His)
n.497C>A
 gnomAD v4
11g.77156013C=CA1984094029MYO7Ac.392C= (p.Pro131=)
c.359C= (p.Pro120=)
c.134C= (p.Pro45=)
n.712C=
n.714C=
c.482C= (p.Pro161=)
n.497C=
11g.77156013C>GCA381931469MYO7Ac.392C>G (p.Pro131Arg)
c.359C>G (p.Pro120Arg)
c.134C>G (p.Pro45Arg)
n.712C>G
n.714C>G
c.482C>G (p.Pro161Arg)
n.497C>G
11g.77156013C>TCA381931470MYO7Ac.392C>T (p.Pro131Leu)
c.359C>T (p.Pro120Leu)
c.134C>T (p.Pro45Leu)
n.712C>T
n.714C>T
c.482C>T (p.Pro161Leu)
n.497C>T
 ClinVar dbSNP gnomAD v4
11g.77156014C>ACA475792501MYO7Ac.393C>A (p.Pro131=)
c.360C>A (p.Pro120=)
c.135C>A (p.Pro45=)
n.713C>A
n.715C>A
c.483C>A (p.Pro161=)
n.498C>A
 ClinVar dbSNP
11g.77156014C>GCA475792502MYO7Ac.393C>G (p.Pro131=)
c.360C>G (p.Pro120=)
c.135C>G (p.Pro45=)
n.713C>G
n.715C>G
c.483C>G (p.Pro161=)
n.498C>G
 ClinVar dbSNP gnomAD v4
11g.77156014C>TCA475792503MYO7Ac.393C>T (p.Pro131=)
c.360C>T (p.Pro120=)
c.135C>T (p.Pro45=)
n.713C>T
n.715C>T
c.483C>T (p.Pro161=)
n.498C>T
 gnomAD v4
11g.77156015C>ACA381931472MYO7Ac.394C>A (p.Pro132Thr)
c.361C>A (p.Pro121Thr)
c.136C>A (p.Pro46Thr)
n.714C>A
n.716C>A
c.484C>A (p.Pro162Thr)
n.499C>A
11g.77156015C=CA1984094034MYO7Ac.394C= (p.Pro132=)
c.361C= (p.Pro121=)
c.136C= (p.Pro46=)
n.714C=
n.716C=
c.484C= (p.Pro162=)
n.499C=
11g.77156015C>GCA381931474MYO7Ac.394C>G (p.Pro132Ala)
c.361C>G (p.Pro121Ala)
c.136C>G (p.Pro46Ala)
n.714C>G
n.716C>G
c.484C>G (p.Pro162Ala)
n.499C>G
11g.77156015C>TCA381931475MYO7Ac.394C>T (p.Pro132Ser)
c.361C>T (p.Pro121Ser)
c.136C>T (p.Pro46Ser)
n.714C>T
n.716C>T
c.484C>T (p.Pro162Ser)
n.499C>T
 ClinVar dbSNP
11g.77156016C>ACA381931477MYO7Ac.395C>A (p.Pro132His)
c.362C>A (p.Pro121His)
c.137C>A (p.Pro46His)
n.715C>A
n.717C>A
c.485C>A (p.Pro162His)
n.500C>A
11g.77156016C=CA1984094042MYO7Ac.395C= (p.Pro132=)
c.362C= (p.Pro121=)
c.137C= (p.Pro46=)
n.715C=
n.717C=
c.485C= (p.Pro162=)
n.500C=
11g.77156016C>GCA6197120MYO7Ac.395C>G (p.Pro132Arg)
c.362C>G (p.Pro121Arg)
c.137C>G (p.Pro46Arg)
n.715C>G
n.717C>G
c.485C>G (p.Pro162Arg)
n.500C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77156016C>TCA381931479MYO7Ac.395C>T (p.Pro132Leu)
c.362C>T (p.Pro121Leu)
c.137C>T (p.Pro46Leu)
n.715C>T
n.717C>T
c.485C>T (p.Pro162Leu)
n.500C>T
 ClinVar dbSNP gnomAD v4
11g.77156017C>ACA475792504MYO7Ac.396C>A (p.Pro132=)
c.363C>A (p.Pro121=)
c.138C>A (p.Pro46=)
n.716C>A
n.718C>A
c.486C>A (p.Pro162=)
n.501C>A
11g.77156017C=CA1984094046MYO7Ac.396C= (p.Pro132=)
c.363C= (p.Pro121=)
c.138C= (p.Pro46=)
n.716C=
n.718C=
c.486C= (p.Pro162=)
n.501C=
11g.77156017C>GCA475792505MYO7Ac.396C>G (p.Pro132=)
c.363C>G (p.Pro121=)
c.138C>G (p.Pro46=)
n.716C>G
n.718C>G
c.486C>G (p.Pro162=)
n.501C>G
 ClinVar
11g.77156017C>TCA475792506MYO7Ac.396C>T (p.Pro132=)
c.363C>T (p.Pro121=)
c.138C>T (p.Pro46=)
n.716C>T
n.718C>T
c.486C>T (p.Pro162=)
n.501C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77156018C>ACA177366MYO7Ac.397C>A (p.His133Asn)
c.364C>A (p.His122Asn)
c.139C>A (p.His47Asn)
n.717C>A
n.719C>A
c.487C>A (p.His163Asn)
n.502C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156018C=CA1984094060MYO7Ac.397C= (p.His133=)
c.364C= (p.His122=)
c.139C= (p.His47=)
n.717C=
n.719C=
c.487C= (p.His163=)
n.502C=
11g.77156018C>GCA381931480MYO7Ac.397C>G (p.His133Asp)
c.364C>G (p.His122Asp)
c.139C>G (p.His47Asp)
n.717C>G
n.719C>G
c.487C>G (p.His163Asp)
n.502C>G
 ClinVar dbSNP gnomAD v4
11g.77156018C>TCA278660MYO7Ac.397C>T (p.His133Tyr)
c.364C>T (p.His122Tyr)
c.139C>T (p.His47Tyr)
n.717C>T
n.719C>T
c.487C>T (p.His163Tyr)
n.502C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched