Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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
11g.77156019A=CA1984094072MYO7Ac.398A= (p.His133=)
c.365A= (p.His122=)
c.140A= (p.His47=)
n.718A=
n.720A=
c.488A= (p.His163=)
n.503A=
11g.77156019A>CCA10604414MYO7Ac.398A>C (p.His133Pro)
c.365A>C (p.His122Pro)
c.140A>C (p.His47Pro)
n.718A>C
n.720A>C
c.488A>C (p.His163Pro)
n.503A>C
ClinVar dbSNP
11g.77156019A>GCA381931481MYO7Ac.398A>G (p.His133Arg)
c.365A>G (p.His122Arg)
c.140A>G (p.His47Arg)
n.718A>G
n.720A>G
c.488A>G (p.His163Arg)
n.503A>G
11g.77156019A>TCA381931482MYO7Ac.398A>T (p.His133Leu)
c.365A>T (p.His122Leu)
c.140A>T (p.His47Leu)
n.718A>T
n.720A>T
c.488A>T (p.His163Leu)
n.503A>T
11g.77156020C>ACA381931485MYO7Ac.399C>A (p.His133Gln)
c.366C>A (p.His122Gln)
c.141C>A (p.His47Gln)
n.719C>A
n.721C>A
c.489C>A (p.His163Gln)
n.504C>A
11g.77156020C=CA1984094076MYO7Ac.399C= (p.His133=)
c.366C= (p.His122=)
c.141C= (p.His47=)
n.719C=
n.721C=
c.489C= (p.His163=)
n.504C=
11g.77156020C>GCA381931487MYO7Ac.399C>G (p.His133Gln)
c.366C>G (p.His122Gln)
c.141C>G (p.His47Gln)
n.719C>G
n.721C>G
c.489C>G (p.His163Gln)
n.504C>G
ClinVar
11g.77156020C>TCA6197121MYO7Ac.399C>T (p.His133=)
c.366C>T (p.His122=)
c.141C>T (p.His47=)
n.719C>T
n.721C>T
c.489C>T (p.His163=)
n.504C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77156020dupCA2695215129MYO7Ac.399dup (p.Ile134HisfsTer6)
c.366dup (p.Ile123HisfsTer6)
c.141dup (p.Ile48HisfsTer6)
n.719dup
n.721dup
c.489dup (p.Ile164HisfsTer6)
n.504dup
11g.77156021A>CCA381931489MYO7Ac.400A>C (p.Ile134Leu)
c.367A>C (p.Ile123Leu)
c.142A>C (p.Ile48Leu)
n.720A>C
n.722A>C
c.490A>C (p.Ile164Leu)
n.505A>C
gnomAD v4
11g.77156021A>GCA381931491MYO7Ac.400A>G (p.Ile134Val)
c.367A>G (p.Ile123Val)
c.142A>G (p.Ile48Val)
n.720A>G
n.722A>G
c.490A>G (p.Ile164Val)
n.505A>G
gnomAD v4
11g.77156021A>TCA381931493MYO7Ac.400A>T (p.Ile134Phe)
c.367A>T (p.Ile123Phe)
c.142A>T (p.Ile48Phe)
n.720A>T
n.722A>T
c.490A>T (p.Ile164Phe)
n.505A>T
11g.77156022T>ACA278663MYO7Ac.401T>A (p.Ile134Asn)
c.368T>A (p.Ile123Asn)
c.143T>A (p.Ile48Asn)
n.721T>A
n.723T>A
c.491T>A (p.Ile164Asn)
n.506T>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156022T>CCA10604413MYO7Ac.401T>C (p.Ile134Thr)
c.368T>C (p.Ile123Thr)
c.143T>C (p.Ile48Thr)
n.721T>C
n.723T>C
c.491T>C (p.Ile164Thr)
n.506T>C
ClinVar dbSNP
11g.77156022T>GCA381931495MYO7Ac.401T>G (p.Ile134Ser)
c.368T>G (p.Ile123Ser)
c.143T>G (p.Ile48Ser)
n.721T>G
n.723T>G
c.491T>G (p.Ile164Ser)
n.506T>G
11g.77156022T=CA1984094086MYO7Ac.401T= (p.Ile134=)
c.368T= (p.Ile123=)
c.143T= (p.Ile48=)
n.721T=
n.723T=
c.491T= (p.Ile164=)
n.506T=
11g.77156023C>ACA475792507MYO7Ac.402C>A (p.Ile134=)
c.369C>A (p.Ile123=)
c.144C>A (p.Ile48=)
n.722C>A
n.724C>A
c.492C>A (p.Ile164=)
n.507C>A
11g.77156023C>GCA381931497MYO7Ac.402C>G (p.Ile134Met)
c.369C>G (p.Ile123Met)
c.144C>G (p.Ile48Met)
n.722C>G
n.724C>G
c.492C>G (p.Ile164Met)
n.507C>G
11g.77156023C>TCA475792508MYO7Ac.402C>T (p.Ile134=)
c.369C>T (p.Ile123=)
c.144C>T (p.Ile48=)
n.722C>T
n.724C>T
c.492C>T (p.Ile164=)
n.507C>T
gnomAD v4
11g.77156024T>ACA381931501MYO7Ac.403T>A (p.Phe135Ile)
c.370T>A (p.Phe124Ile)
c.145T>A (p.Phe49Ile)
n.723T>A
n.725T>A
c.493T>A (p.Phe165Ile)
n.508T>A
11g.77156024T>CCA381931498MYO7Ac.403T>C (p.Phe135Leu)
c.370T>C (p.Phe124Leu)
c.145T>C (p.Phe49Leu)
n.723T>C
n.725T>C
c.493T>C (p.Phe165Leu)
n.508T>C
11g.77156024T>GCA381931500MYO7Ac.403T>G (p.Phe135Val)
c.370T>G (p.Phe124Val)
c.145T>G (p.Phe49Val)
n.723T>G
n.725T>G
c.493T>G (p.Phe165Val)
n.508T>G
11g.77156025T>ACA381931503MYO7Ac.404T>A (p.Phe135Tyr)
c.371T>A (p.Phe124Tyr)
c.146T>A (p.Phe49Tyr)
n.724T>A
n.726T>A
c.494T>A (p.Phe165Tyr)
n.509T>A
11g.77156025T>CCA381931504MYO7Ac.404T>C (p.Phe135Ser)
c.371T>C (p.Phe124Ser)
c.146T>C (p.Phe49Ser)
n.724T>C
n.726T>C
c.494T>C (p.Phe165Ser)
n.509T>C
11g.77156025T>GCA381931506MYO7Ac.404T>G (p.Phe135Cys)
c.371T>G (p.Phe124Cys)
c.146T>G (p.Phe49Cys)
n.724T>G
n.726T>G
c.494T>G (p.Phe165Cys)
n.509T>G
11g.77156026T>ACA381931508MYO7Ac.405T>A (p.Phe135Leu)
c.372T>A (p.Phe124Leu)
c.147T>A (p.Phe49Leu)
n.725T>A
n.727T>A
c.495T>A (p.Phe165Leu)
n.510T>A
11g.77156026T>CCA475792509MYO7Ac.405T>C (p.Phe135=)
c.372T>C (p.Phe124=)
c.147T>C (p.Phe49=)
n.725T>C
n.727T>C
c.495T>C (p.Phe165=)
n.510T>C
11g.77156026T>GCA381931509MYO7Ac.405T>G (p.Phe135Leu)
c.372T>G (p.Phe124Leu)
c.147T>G (p.Phe49Leu)
n.725T>G
n.727T>G
c.495T>G (p.Phe165Leu)
n.510T>G
11g.77156027G>ACA381931511MYO7Ac.406G>A (p.Ala136Thr)
c.373G>A (p.Ala125Thr)
c.148G>A (p.Ala50Thr)
n.726G>A
n.728G>A
c.496G>A (p.Ala166Thr)
n.511G>A
gnomAD v4
11g.77156027G>CCA381931512MYO7Ac.406G>C (p.Ala136Pro)
c.373G>C (p.Ala125Pro)
c.148G>C (p.Ala50Pro)
n.726G>C
n.728G>C
c.496G>C (p.Ala166Pro)
n.511G>C
11g.77156027G>TCA381931513MYO7Ac.406G>T (p.Ala136Ser)
c.373G>T (p.Ala125Ser)
c.148G>T (p.Ala50Ser)
n.726G>T
n.728G>T
c.496G>T (p.Ala166Ser)
n.511G>T
11g.77156028C>ACA381931515MYO7Ac.407C>A (p.Ala136Asp)
c.374C>A (p.Ala125Asp)
c.149C>A (p.Ala50Asp)
n.727C>A
n.729C>A
c.497C>A (p.Ala166Asp)
n.512C>A
11g.77156028C>GCA381931517MYO7Ac.407C>G (p.Ala136Gly)
c.374C>G (p.Ala125Gly)
c.149C>G (p.Ala50Gly)
n.727C>G
n.729C>G
c.497C>G (p.Ala166Gly)
n.512C>G
11g.77156028C>TCA381931518MYO7Ac.407C>T (p.Ala136Val)
c.374C>T (p.Ala125Val)
c.149C>T (p.Ala50Val)
n.727C>T
n.729C>T
c.497C>T (p.Ala166Val)
n.512C>T
11g.77156029C>ACA475792510MYO7Ac.408C>A (p.Ala136=)
c.375C>A (p.Ala125=)
c.150C>A (p.Ala50=)
n.728C>A
n.730C>A
c.498C>A (p.Ala166=)
n.513C>A
11g.77156029C>GCA475792512MYO7Ac.408C>G (p.Ala136=)
c.375C>G (p.Ala125=)
c.150C>G (p.Ala50=)
n.728C>G
n.730C>G
c.498C>G (p.Ala166=)
n.513C>G
11g.77156029C>TCA475792511MYO7Ac.408C>T (p.Ala136=)
c.375C>T (p.Ala125=)
c.150C>T (p.Ala50=)
n.728C>T
n.730C>T
c.498C>T (p.Ala166=)
n.513C>T
11g.77156030A=CA1984094097MYO7Ac.409A= (p.Ile137=)
c.376A= (p.Ile126=)
c.151A= (p.Ile51=)
n.729A=
n.731A=
c.499A= (p.Ile167=)
n.514A=
11g.77156030A>CCA381931520MYO7Ac.409A>C (p.Ile137Leu)
c.376A>C (p.Ile126Leu)
c.151A>C (p.Ile51Leu)
n.729A>C
n.731A>C
c.499A>C (p.Ile167Leu)
n.514A>C
11g.77156030A>GCA224826383MYO7Ac.409A>G (p.Ile137Val)
c.376A>G (p.Ile126Val)
c.151A>G (p.Ile51Val)
n.729A>G
n.731A>G
c.499A>G (p.Ile167Val)
n.514A>G
dbSNP gnomAD v3 gnomAD v4
11g.77156030A>TCA381931519MYO7Ac.409A>T (p.Ile137Phe)
c.376A>T (p.Ile126Phe)
c.151A>T (p.Ile51Phe)
n.729A>T
n.731A>T
c.499A>T (p.Ile167Phe)
n.514A>T
11g.77156031T>ACA381931521MYO7Ac.410T>A (p.Ile137Asn)
c.377T>A (p.Ile126Asn)
c.152T>A (p.Ile51Asn)
n.730T>A
n.732T>A
c.500T>A (p.Ile167Asn)
n.515T>A
11g.77156031T>CCA381931522MYO7Ac.410T>C (p.Ile137Thr)
c.377T>C (p.Ile126Thr)
c.152T>C (p.Ile51Thr)
n.730T>C
n.732T>C
c.500T>C (p.Ile167Thr)
n.515T>C
ClinVar dbSNP
11g.77156031T>GCA381931524MYO7Ac.410T>G (p.Ile137Ser)
c.377T>G (p.Ile126Ser)
c.152T>G (p.Ile51Ser)
n.730T>G
n.732T>G
c.500T>G (p.Ile167Ser)
n.515T>G
11g.77156031T=CA1984094100MYO7Ac.410T= (p.Ile137=)
c.377T= (p.Ile126=)
c.152T= (p.Ile51=)
n.730T=
n.732T=
c.500T= (p.Ile167=)
n.515T=
11g.77156032T>ACA475792513MYO7Ac.411T>A (p.Ile137=)
c.378T>A (p.Ile126=)
c.153T>A (p.Ile51=)
n.731T>A
n.733T>A
c.501T>A (p.Ile167=)
n.516T>A
11g.77156032T>CCA475792514MYO7Ac.411T>C (p.Ile137=)
c.378T>C (p.Ile126=)
c.153T>C (p.Ile51=)
n.731T>C
n.733T>C
c.501T>C (p.Ile167=)
n.516T>C
dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.77156032T>GCA381931525MYO7Ac.411T>G (p.Ile137Met)
c.378T>G (p.Ile126Met)
c.153T>G (p.Ile51Met)
n.731T>G
n.733T>G
c.501T>G (p.Ile167Met)
n.516T>G
11g.77156032T=CA1984094102MYO7Ac.411T= (p.Ile137=)
c.378T= (p.Ile126=)
c.153T= (p.Ile51=)
n.731T=
n.733T=
c.501T= (p.Ile167=)
n.516T=
11g.77156033G>ACA381931526MYO7Ac.412G>A (p.Ala138Thr)
c.379G>A (p.Ala127Thr)
c.154G>A (p.Ala52Thr)
n.732G>A
n.734G>A
c.502G>A (p.Ala168Thr)
n.517G>A
11g.77156033G>CCA381931527MYO7Ac.412G>C (p.Ala138Pro)
c.379G>C (p.Ala127Pro)
c.154G>C (p.Ala52Pro)
n.732G>C
n.734G>C
c.502G>C (p.Ala168Pro)
n.517G>C
11g.77156033G>TCA381931529MYO7Ac.412G>T (p.Ala138Ser)
c.379G>T (p.Ala127Ser)
c.154G>T (p.Ala52Ser)
n.732G>T
n.734G>T
c.502G>T (p.Ala168Ser)
n.517G>T
11g.77156034C>ACA381931531MYO7Ac.413C>A (p.Ala138Asp)
c.380C>A (p.Ala127Asp)
c.155C>A (p.Ala52Asp)
n.733C>A
n.735C>A
c.503C>A (p.Ala168Asp)
n.518C>A
11g.77156034C>GCA381931532MYO7Ac.413C>G (p.Ala138Gly)
c.380C>G (p.Ala127Gly)
c.155C>G (p.Ala52Gly)
n.733C>G
n.735C>G
c.503C>G (p.Ala168Gly)
n.518C>G
11g.77156034C>TCA381931534MYO7Ac.413C>T (p.Ala138Val)
c.380C>T (p.Ala127Val)
c.155C>T (p.Ala52Val)
n.733C>T
n.735C>T
c.503C>T (p.Ala168Val)
n.518C>T
COSMIC
11g.77156035T>ACA475792515MYO7Ac.414T>A (p.Ala138=)
c.381T>A (p.Ala127=)
c.156T>A (p.Ala52=)
n.734T>A
n.736T>A
c.504T>A (p.Ala168=)
n.519T>A
11g.77156035T>CCA475792516MYO7Ac.414T>C (p.Ala138=)
c.381T>C (p.Ala127=)
c.156T>C (p.Ala52=)
n.734T>C
n.736T>C
c.504T>C (p.Ala168=)
n.519T>C
ClinVar gnomAD v4
11g.77156035T>GCA475792517MYO7Ac.414T>G (p.Ala138=)
c.381T>G (p.Ala127=)
c.156T>G (p.Ala52=)
n.734T>G
n.736T>G
c.504T>G (p.Ala168=)
n.519T>G
ClinVar
11g.77156036G>ACA6197122MYO7Ac.415G>A (p.Asp139Asn)
c.382G>A (p.Asp128Asn)
c.157G>A (p.Asp53Asn)
n.735G>A
n.737G>A
c.505G>A (p.Asp169Asn)
n.520G>A
dbSNP ExAC gnomAD v2 gnomAD v4
11g.77156036G>CCA381931537MYO7Ac.415G>C (p.Asp139His)
c.382G>C (p.Asp128His)
c.157G>C (p.Asp53His)
n.735G>C
n.737G>C
c.505G>C (p.Asp169His)
n.520G>C
11g.77156036G=CA1984094104MYO7Ac.415G= (p.Asp139=)
c.382G= (p.Asp128=)
c.157G= (p.Asp53=)
n.735G=
n.737G=
c.505G= (p.Asp169=)
n.520G=
11g.77156036G>TCA381931539MYO7Ac.415G>T (p.Asp139Tyr)
c.382G>T (p.Asp128Tyr)
c.157G>T (p.Asp53Tyr)
n.735G>T
n.737G>T
c.505G>T (p.Asp169Tyr)
n.520G>T
11g.77156037A=CA1984094106MYO7Ac.416A= (p.Asp139=)
c.383A= (p.Asp128=)
c.158A= (p.Asp53=)
n.736A=
n.738A=
c.506A= (p.Asp169=)
n.521A=
11g.77156037A>CCA381931544MYO7Ac.416A>C (p.Asp139Ala)
c.383A>C (p.Asp128Ala)
c.158A>C (p.Asp53Ala)
n.736A>C
n.738A>C
c.506A>C (p.Asp169Ala)
n.521A>C
11g.77156037A>GCA381931543MYO7Ac.416A>G (p.Asp139Gly)
c.383A>G (p.Asp128Gly)
c.158A>G (p.Asp53Gly)
n.736A>G
n.738A>G
c.506A>G (p.Asp169Gly)
n.521A>G
dbSNP
11g.77156037A>TCA381931542MYO7Ac.416A>T (p.Asp139Val)
c.383A>T (p.Asp128Val)
c.158A>T (p.Asp53Val)
n.736A>T
n.738A>T
c.506A>T (p.Asp169Val)
n.521A>T
11g.77156038C>ACA381931550MYO7Ac.417C>A (p.Asp139Glu)
c.384C>A (p.Asp128Glu)
c.159C>A (p.Asp53Glu)
n.737C>A
n.739C>A
c.507C>A (p.Asp169Glu)
n.522C>A
11g.77156038C>GCA381931551MYO7Ac.417C>G (p.Asp139Glu)
c.384C>G (p.Asp128Glu)
c.159C>G (p.Asp53Glu)
n.737C>G
n.739C>G
c.507C>G (p.Asp169Glu)
n.522C>G
11g.77156038C>TCA475792518MYO7Ac.417C>T (p.Asp139=)
c.384C>T (p.Asp128=)
c.159C>T (p.Asp53=)
n.737C>T
n.739C>T
c.507C>T (p.Asp169=)
n.522C>T
11g.77156039A>CCA381931553MYO7Ac.418A>C (p.Asn140His)
c.385A>C (p.Asn129His)
c.160A>C (p.Asn54His)
n.738A>C
n.740A>C
c.508A>C (p.Asn170His)
n.523A>C
11g.77156039A>GCA381931555MYO7Ac.418A>G (p.Asn140Asp)
c.385A>G (p.Asn129Asp)
c.160A>G (p.Asn54Asp)
n.738A>G
n.740A>G
c.508A>G (p.Asn170Asp)
n.523A>G
11g.77156039A>TCA381931557MYO7Ac.418A>T (p.Asn140Tyr)
c.385A>T (p.Asn129Tyr)
c.160A>T (p.Asn54Tyr)
n.738A>T
n.740A>T
c.508A>T (p.Asn170Tyr)
n.523A>T
11g.77156040delCA2508789899MYO7Ac.419del (p.Asn140ThrfsTer6)
c.386del (p.Asn129ThrfsTer6)
c.161del (p.Asn54ThrfsTer6)
n.739del
n.741del
c.509del (p.Asn170ThrfsTer6)
n.524del
11g.77156040A=CA1984094108MYO7Ac.419A= (p.Asn140=)
c.386A= (p.Asn129=)
c.161A= (p.Asn54=)
n.739A=
n.741A=
c.509A= (p.Asn170=)
n.524A=
11g.77156040A>CCA381931559MYO7Ac.419A>C (p.Asn140Thr)
c.386A>C (p.Asn129Thr)
c.161A>C (p.Asn54Thr)
n.739A>C
n.741A>C
c.509A>C (p.Asn170Thr)
n.524A>C
11g.77156040A>GCA381931561MYO7Ac.419A>G (p.Asn140Ser)
c.386A>G (p.Asn129Ser)
c.161A>G (p.Asn54Ser)
n.739A>G
n.741A>G
c.509A>G (p.Asn170Ser)
n.524A>G
dbSNP
11g.77156040A>TCA381931562MYO7Ac.419A>T (p.Asn140Ile)
c.386A>T (p.Asn129Ile)
c.161A>T (p.Asn54Ile)
n.739A>T
n.741A>T
c.509A>T (p.Asn170Ile)
n.524A>T
11g.77156041C>ACA381931565MYO7Ac.420C>A (p.Asn140Lys)
c.387C>A (p.Asn129Lys)
c.162C>A (p.Asn54Lys)
n.740C>A
n.742C>A
c.510C>A (p.Asn170Lys)
n.525C>A
11g.77156041C>GCA381931566MYO7Ac.420C>G (p.Asn140Lys)
c.387C>G (p.Asn129Lys)
c.162C>G (p.Asn54Lys)
n.740C>G
n.742C>G
c.510C>G (p.Asn170Lys)
n.525C>G
11g.77156041C>TCA475792519MYO7Ac.420C>T (p.Asn140=)
c.387C>T (p.Asn129=)
c.162C>T (p.Asn54=)
n.740C>T
n.742C>T
c.510C>T (p.Asn170=)
n.525C>T
11g.77156042T>ACA381931568MYO7Ac.421T>A (p.Cys141Ser)
c.388T>A (p.Cys130Ser)
c.163T>A (p.Cys55Ser)
n.741T>A
n.743T>A
c.511T>A (p.Cys171Ser)
n.526T>A
11g.77156042T>CCA381931570MYO7Ac.421T>C (p.Cys141Arg)
c.388T>C (p.Cys130Arg)
c.163T>C (p.Cys55Arg)
n.741T>C
n.743T>C
c.511T>C (p.Cys171Arg)
n.526T>C
11g.77156042T>GCA381931572MYO7Ac.421T>G (p.Cys141Gly)
c.388T>G (p.Cys130Gly)
c.163T>G (p.Cys55Gly)
n.741T>G
n.743T>G
c.511T>G (p.Cys171Gly)
n.526T>G
11g.77156043G>ACA381931575MYO7Ac.422G>A (p.Cys141Tyr)
c.389G>A (p.Cys130Tyr)
c.164G>A (p.Cys55Tyr)
n.742G>A
n.744G>A
c.512G>A (p.Cys171Tyr)
n.527G>A
11g.77156043G>CCA381931576MYO7Ac.422G>C (p.Cys141Ser)
c.389G>C (p.Cys130Ser)
c.164G>C (p.Cys55Ser)
n.742G>C
n.744G>C
c.512G>C (p.Cys171Ser)
n.527G>C
11g.77156043G>TCA381931573MYO7Ac.422G>T (p.Cys141Phe)
c.389G>T (p.Cys130Phe)
c.164G>T (p.Cys55Phe)
n.742G>T
n.744G>T
c.512G>T (p.Cys171Phe)
n.527G>T
11g.77156044C>ACA381931580MYO7Ac.423C>A (p.Cys141Ter)
c.390C>A (p.Cys130Ter)
c.165C>A (p.Cys55Ter)
n.743C>A
n.745C>A
c.513C>A (p.Cys171Ter)
n.528C>A
11g.77156044C>GCA381931578MYO7Ac.423C>G (p.Cys141Trp)
c.390C>G (p.Cys130Trp)
c.165C>G (p.Cys55Trp)
n.743C>G
n.745C>G
c.513C>G (p.Cys171Trp)
n.528C>G
11g.77156044C>TCA475792520MYO7Ac.423C>T (p.Cys141=)
c.390C>T (p.Cys130=)
c.165C>T (p.Cys55=)
n.743C>T
n.745C>T
c.513C>T (p.Cys171=)
n.528C>T
11g.77156045T>ACA381931585MYO7Ac.424T>A (p.Tyr142Asn)
c.391T>A (p.Tyr131Asn)
c.166T>A (p.Tyr56Asn)
n.744T>A
n.746T>A
c.514T>A (p.Tyr172Asn)
n.529T>A
11g.77156045T>CCA381931582MYO7Ac.424T>C (p.Tyr142His)
c.391T>C (p.Tyr131His)
c.166T>C (p.Tyr56His)
n.744T>C
n.746T>C
c.514T>C (p.Tyr172His)
n.529T>C
gnomAD v4
11g.77156045T>GCA381931583MYO7Ac.424T>G (p.Tyr142Asp)
c.391T>G (p.Tyr131Asp)
c.166T>G (p.Tyr56Asp)
n.744T>G
n.746T>G
c.514T>G (p.Tyr172Asp)
n.529T>G
11g.77156046A=CA1984094112MYO7Ac.425A= (p.Tyr142=)
c.392A= (p.Tyr131=)
c.167A= (p.Tyr56=)
n.745A=
n.747A=
c.515A= (p.Tyr172=)
n.530A=
11g.77156046A>CCA381931587MYO7Ac.425A>C (p.Tyr142Ser)
c.392A>C (p.Tyr131Ser)
c.167A>C (p.Tyr56Ser)
n.745A>C
n.747A>C
c.515A>C (p.Tyr172Ser)
n.530A>C
11g.77156046A>GCA6197123MYO7Ac.425A>G (p.Tyr142Cys)
c.392A>G (p.Tyr131Cys)
c.167A>G (p.Tyr56Cys)
n.745A>G
n.747A>G
c.515A>G (p.Tyr172Cys)
n.530A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77156046A>TCA381931590MYO7Ac.425A>T (p.Tyr142Phe)
c.392A>T (p.Tyr131Phe)
c.167A>T (p.Tyr56Phe)
n.745A>T
n.747A>T
c.515A>T (p.Tyr172Phe)
n.530A>T
11g.77156047C>ACA381931592MYO7Ac.426C>A (p.Tyr142Ter)
c.393C>A (p.Tyr131Ter)
c.168C>A (p.Tyr56Ter)
n.746C>A
n.748C>A
c.516C>A (p.Tyr172Ter)
n.531C>A
ClinVar
11g.77156047C>GCA381931594MYO7Ac.426C>G (p.Tyr142Ter)
c.393C>G (p.Tyr131Ter)
c.168C>G (p.Tyr56Ter)
n.746C>G
n.748C>G
c.516C>G (p.Tyr172Ter)
n.531C>G
11g.77156047C>TCA475792521MYO7Ac.426C>T (p.Tyr142=)
c.393C>T (p.Tyr131=)
c.168C>T (p.Tyr56=)
n.746C>T
n.748C>T
c.516C>T (p.Tyr172=)
n.531C>T
11g.77156048T>ACA381931597MYO7Ac.427T>A (p.Phe143Ile)
c.394T>A (p.Phe132Ile)
c.169T>A (p.Phe57Ile)
n.747T>A
n.749T>A
c.517T>A (p.Phe173Ile)
n.532T>A
11g.77156048T>CCA381931598MYO7Ac.427T>C (p.Phe143Leu)
c.394T>C (p.Phe132Leu)
c.169T>C (p.Phe57Leu)
n.747T>C
n.749T>C
c.517T>C (p.Phe173Leu)
n.532T>C
dbSNP gnomAD v4
11g.77156048T>GCA381931600MYO7Ac.427T>G (p.Phe143Val)
c.394T>G (p.Phe132Val)
c.169T>G (p.Phe57Val)
n.747T>G
n.749T>G
c.517T>G (p.Phe173Val)
n.532T>G
11g.77156048T=CA1984094118MYO7Ac.427T= (p.Phe143=)
c.394T= (p.Phe132=)
c.169T= (p.Phe57=)
n.747T=
n.749T=
c.517T= (p.Phe173=)
n.532T=
11g.77156049T>ACA381931602MYO7Ac.428T>A (p.Phe143Tyr)
c.395T>A (p.Phe132Tyr)
c.170T>A (p.Phe57Tyr)
n.748T>A
n.750T>A
c.518T>A (p.Phe173Tyr)
n.533T>A
11g.77156049T>CCA381931604MYO7Ac.428T>C (p.Phe143Ser)
c.395T>C (p.Phe132Ser)
c.170T>C (p.Phe57Ser)
n.748T>C
n.750T>C
c.518T>C (p.Phe173Ser)
n.533T>C
11g.77156049T>GCA6197124MYO7Ac.428T>G (p.Phe143Cys)
c.395T>G (p.Phe132Cys)
c.170T>G (p.Phe57Cys)
n.748T>G
n.750T>G
c.518T>G (p.Phe173Cys)
n.533T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156049T=CA1984094121MYO7Ac.428T= (p.Phe143=)
c.395T= (p.Phe132=)
c.170T= (p.Phe57=)
n.748T=
n.750T=
c.518T= (p.Phe173=)
n.533T=
11g.77156050C>ACA381931607MYO7Ac.429C>A (p.Phe143Leu)
c.396C>A (p.Phe132Leu)
c.171C>A (p.Phe57Leu)
n.749C>A
n.751C>A
c.519C>A (p.Phe173Leu)
n.534C>A
11g.77156050C>GCA381931609MYO7Ac.429C>G (p.Phe143Leu)
c.396C>G (p.Phe132Leu)
c.171C>G (p.Phe57Leu)
n.749C>G
n.751C>G
c.519C>G (p.Phe173Leu)
n.534C>G
11g.77156050C>TCA475792522MYO7Ac.429C>T (p.Phe143=)
c.396C>T (p.Phe132=)
c.171C>T (p.Phe57=)
n.749C>T
n.751C>T
c.519C>T (p.Phe173=)
n.534C>T
11g.77156051A=CA1984094122MYO7Ac.430A= (p.Asn144=)
c.397A= (p.Asn133=)
c.172A= (p.Asn58=)
n.750A=
n.752A=
c.520A= (p.Asn174=)
n.535A=
11g.77156051A>CCA381931611MYO7Ac.430A>C (p.Asn144His)
c.397A>C (p.Asn133His)
c.172A>C (p.Asn58His)
n.750A>C
n.752A>C
c.520A>C (p.Asn174His)
n.535A>C
11g.77156051A>GCA6197125MYO7Ac.430A>G (p.Asn144Asp)
c.397A>G (p.Asn133Asp)
c.172A>G (p.Asn58Asp)
n.750A>G
n.752A>G
c.520A>G (p.Asn174Asp)
n.535A>G
dbSNP ExAC gnomAD v2 gnomAD v4
11g.77156051A>TCA381931614MYO7Ac.430A>T (p.Asn144Tyr)
c.397A>T (p.Asn133Tyr)
c.172A>T (p.Asn58Tyr)
n.750A>T
n.752A>T
c.520A>T (p.Asn174Tyr)
n.535A>T
ClinVar
11g.77156052A=CA1984094126MYO7Ac.431A= (p.Asn144=)
c.398A= (p.Asn133=)
c.173A= (p.Asn58=)
n.751A=
n.753A=
c.521A= (p.Asn174=)
n.536A=
11g.77156052A>CCA381931616MYO7Ac.431A>C (p.Asn144Thr)
c.398A>C (p.Asn133Thr)
c.173A>C (p.Asn58Thr)
n.751A>C
n.753A>C
c.521A>C (p.Asn174Thr)
n.536A>C
11g.77156052A>GCA6197126MYO7Ac.431A>G (p.Asn144Ser)
c.398A>G (p.Asn133Ser)
c.173A>G (p.Asn58Ser)
n.751A>G
n.753A>G
c.521A>G (p.Asn174Ser)
n.536A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156052A>TCA381931619MYO7Ac.431A>T (p.Asn144Ile)
c.398A>T (p.Asn133Ile)
c.173A>T (p.Asn58Ile)
n.751A>T
n.753A>T
c.521A>T (p.Asn174Ile)
n.536A>T
11g.77156053C>ACA381931621MYO7Ac.432C>A (p.Asn144Lys)
c.399C>A (p.Asn133Lys)
c.174C>A (p.Asn58Lys)
n.752C>A
n.754C>A
c.522C>A (p.Asn174Lys)
n.537C>A
11g.77156053C>GCA381931623MYO7Ac.432C>G (p.Asn144Lys)
c.399C>G (p.Asn133Lys)
c.174C>G (p.Asn58Lys)
n.752C>G
n.754C>G
c.522C>G (p.Asn174Lys)
n.537C>G
11g.77156053C>TCA475792523MYO7Ac.432C>T (p.Asn144=)
c.399C>T (p.Asn133=)
c.174C>T (p.Asn58=)
n.752C>T
n.754C>T
c.522C>T (p.Asn174=)
n.537C>T
11g.77156054A>CCA381931626MYO7Ac.433A>C (p.Met145Leu)
c.400A>C (p.Met134Leu)
c.175A>C (p.Met59Leu)
n.753A>C
n.755A>C
c.523A>C (p.Met175Leu)
n.538A>C
11g.77156054A>GCA381931628MYO7Ac.433A>G (p.Met145Val)
c.400A>G (p.Met134Val)
c.175A>G (p.Met59Val)
n.753A>G
n.755A>G
c.523A>G (p.Met175Val)
n.538A>G
gnomAD v4
11g.77156054A>TCA381931629MYO7Ac.433A>T (p.Met145Leu)
c.400A>T (p.Met134Leu)
c.175A>T (p.Met59Leu)
n.753A>T
n.755A>T
c.523A>T (p.Met175Leu)
n.538A>T
11g.77156055T>ACA381931635MYO7Ac.434T>A (p.Met145Lys)
c.401T>A (p.Met134Lys)
c.176T>A (p.Met59Lys)
n.754T>A
n.756T>A
c.524T>A (p.Met175Lys)
n.539T>A
11g.77156055T>CCA381931633MYO7Ac.434T>C (p.Met145Thr)
c.401T>C (p.Met134Thr)
c.176T>C (p.Met59Thr)
n.754T>C
n.756T>C
c.524T>C (p.Met175Thr)
n.539T>C
11g.77156055T>GCA6197127MYO7Ac.434T>G (p.Met145Arg)
c.401T>G (p.Met134Arg)
c.176T>G (p.Met59Arg)
n.754T>G
n.756T>G
c.524T>G (p.Met175Arg)
n.539T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156055T=CA1984094130MYO7Ac.434T= (p.Met145=)
c.401T= (p.Met134=)
c.176T= (p.Met59=)
n.754T=
n.756T=
c.524T= (p.Met175=)
n.539T=
11g.77156056G>ACA381931637MYO7Ac.435G>A (p.Met145Ile)
c.402G>A (p.Met134Ile)
c.177G>A (p.Met59Ile)
n.755G>A
n.757G>A
c.525G>A (p.Met175Ile)
n.540G>A
11g.77156056G>CCA381931638MYO7Ac.435G>C (p.Met145Ile)
c.402G>C (p.Met134Ile)
c.177G>C (p.Met59Ile)
n.755G>C
n.757G>C
c.525G>C (p.Met175Ile)
n.540G>C
11g.77156056G>TCA381931639MYO7Ac.435G>T (p.Met145Ile)
c.402G>T (p.Met134Ile)
c.177G>T (p.Met59Ile)
n.755G>T
n.757G>T
c.525G>T (p.Met175Ile)
n.540G>T
11g.77156057A>CCA381931640MYO7Ac.436A>C (p.Lys146Gln)
c.403A>C (p.Lys135Gln)
c.178A>C (p.Lys60Gln)
n.756A>C
n.758A>C
c.526A>C (p.Lys176Gln)
n.541A>C
11g.77156057A>GCA381931641MYO7Ac.436A>G (p.Lys146Glu)
c.403A>G (p.Lys135Glu)
c.178A>G (p.Lys60Glu)
n.756A>G
n.758A>G
c.526A>G (p.Lys176Glu)
n.541A>G
11g.77156057A>TCA381931642MYO7Ac.436A>T (p.Lys146Ter)
c.403A>T (p.Lys135Ter)
c.178A>T (p.Lys60Ter)
n.756A>T
n.758A>T
c.526A>T (p.Lys176Ter)
n.541A>T
11g.77156058A>CCA381931645MYO7Ac.437A>C (p.Lys146Thr)
c.404A>C (p.Lys135Thr)
c.179A>C (p.Lys60Thr)
n.757A>C
n.759A>C
c.527A>C (p.Lys176Thr)
n.542A>C
gnomAD v4
11g.77156058A>GCA381931643MYO7Ac.437A>G (p.Lys146Arg)
c.404A>G (p.Lys135Arg)
c.179A>G (p.Lys60Arg)
n.757A>G
n.759A>G
c.527A>G (p.Lys176Arg)
n.542A>G
11g.77156058A>TCA381931644MYO7Ac.437A>T (p.Lys146Ile)
c.404A>T (p.Lys135Ile)
c.179A>T (p.Lys60Ile)
n.757A>T
n.759A>T
c.527A>T (p.Lys176Ile)
n.542A>T
11g.77156059A>CCA381931646MYO7Ac.438A>C (p.Lys146Asn)
c.405A>C (p.Lys135Asn)
c.180A>C (p.Lys60Asn)
n.758A>C
n.760A>C
c.528A>C (p.Lys176Asn)
n.543A>C
11g.77156059A>GCA475792524MYO7Ac.438A>G (p.Lys146=)
c.405A>G (p.Lys135=)
c.180A>G (p.Lys60=)
n.758A>G
n.760A>G
c.528A>G (p.Lys176=)
n.543A>G
gnomAD v4
11g.77156059A>TCA381931647MYO7Ac.438A>T (p.Lys146Asn)
c.405A>T (p.Lys135Asn)
c.180A>T (p.Lys60Asn)
n.758A>T
n.760A>T
c.528A>T (p.Lys176Asn)
n.543A>T
11g.77156060C>ACA381931648MYO7Ac.439C>A (p.Arg147Ser)
c.406C>A (p.Arg136Ser)
c.181C>A (p.Arg61Ser)
n.759C>A
n.761C>A
c.529C>A (p.Arg177Ser)
n.544C>A
11g.77156060C=CA1984094148MYO7Ac.439C= (p.Arg147=)
c.406C= (p.Arg136=)
c.181C= (p.Arg61=)
n.759C=
n.761C=
c.529C= (p.Arg177=)
n.544C=
11g.77156060C>GCA381931649MYO7Ac.439C>G (p.Arg147Gly)
c.406C>G (p.Arg136Gly)
c.181C>G (p.Arg61Gly)
n.759C>G
n.761C>G
c.529C>G (p.Arg177Gly)
n.544C>G
11g.77156060C>TCA6197128MYO7Ac.439C>T (p.Arg147Cys)
c.406C>T (p.Arg136Cys)
c.181C>T (p.Arg61Cys)
n.759C>T
n.761C>T
c.529C>T (p.Arg177Cys)
n.544C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.77156061G>ACA132322MYO7Ac.440G>A (p.Arg147His)
c.407G>A (p.Arg136His)
c.182G>A (p.Arg61His)
n.760G>A
n.762G>A
c.530G>A (p.Arg177His)
n.545G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77156061G>CCA381931651MYO7Ac.440G>C (p.Arg147Pro)
c.407G>C (p.Arg136Pro)
c.182G>C (p.Arg61Pro)
n.760G>C
n.762G>C
c.530G>C (p.Arg177Pro)
n.545G>C
11g.77156061G=CA1984094163MYO7Ac.440G= (p.Arg147=)
c.407G= (p.Arg136=)
c.182G= (p.Arg61=)
n.760G=
n.762G=
c.530G= (p.Arg177=)
n.545G=
11g.77156061G>TCA381931650MYO7Ac.440G>T (p.Arg147Leu)
c.407G>T (p.Arg136Leu)
c.182G>T (p.Arg61Leu)
n.760G>T
n.762G>T
c.530G>T (p.Arg177Leu)
n.545G>T
gnomAD v4
11g.77156062C>ACA475792526MYO7Ac.441C>A (p.Arg147=)
c.408C>A (p.Arg136=)
c.183C>A (p.Arg61=)
n.761C>A
n.763C>A
c.531C>A (p.Arg177=)
n.546C>A
11g.77156062C>GCA475792527MYO7Ac.441C>G (p.Arg147=)
c.408C>G (p.Arg136=)
c.183C>G (p.Arg61=)
n.761C>G
n.763C>G
c.531C>G (p.Arg177=)
n.546C>G
11g.77156062C>TCA475792528MYO7Ac.441C>T (p.Arg147=)
c.408C>T (p.Arg136=)
c.183C>T (p.Arg61=)
n.761C>T
n.763C>T
c.531C>T (p.Arg177=)
n.546C>T
11g.77156063A>CCA381931652MYO7Ac.442A>C (p.Asn148His)
c.409A>C (p.Asn137His)
c.184A>C (p.Asn62His)
n.762A>C
n.764A>C
c.532A>C (p.Asn178His)
n.547A>C
11g.77156063A>GCA381931653MYO7Ac.442A>G (p.Asn148Asp)
c.409A>G (p.Asn137Asp)
c.184A>G (p.Asn62Asp)
n.762A>G
n.764A>G
c.532A>G (p.Asn178Asp)
n.547A>G
gnomAD v4
11g.77156063A>TCA381931654MYO7Ac.442A>T (p.Asn148Tyr)
c.409A>T (p.Asn137Tyr)
c.184A>T (p.Asn62Tyr)
n.762A>T
n.764A>T
c.532A>T (p.Asn178Tyr)
n.547A>T
11g.77156064A=CA1984094171MYO7Ac.443A= (p.Asn148=)
c.410A= (p.Asn137=)
c.185A= (p.Asn62=)
n.763A=
n.765A=
c.533A= (p.Asn178=)
n.548A=
11g.77156064A>CCA6197129MYO7Ac.443A>C (p.Asn148Thr)
c.410A>C (p.Asn137Thr)
c.185A>C (p.Asn62Thr)
n.763A>C
n.765A>C
c.533A>C (p.Asn178Thr)
n.548A>C
dbSNP ExAC gnomAD v2 gnomAD v4
11g.77156064A>GCA6197130MYO7Ac.443A>G (p.Asn148Ser)
c.410A>G (p.Asn137Ser)
c.185A>G (p.Asn62Ser)
n.763A>G
n.765A>G
c.533A>G (p.Asn178Ser)
n.548A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77156064A>TCA381931655MYO7Ac.443A>T (p.Asn148Ile)
c.410A>T (p.Asn137Ile)
c.185A>T (p.Asn62Ile)
n.763A>T
n.765A>T
c.533A>T (p.Asn178Ile)
n.548A>T
11g.77156065C>ACA381931656MYO7Ac.444C>A (p.Asn148Lys)
c.411C>A (p.Asn137Lys)
c.186C>A (p.Asn62Lys)
n.764C>A
n.766C>A
c.534C>A (p.Asn178Lys)
n.549C>A
dbSNP
11g.77156065C=CA1984094180MYO7Ac.444C= (p.Asn148=)
c.411C= (p.Asn137=)
c.186C= (p.Asn62=)
n.764C=
n.766C=
c.534C= (p.Asn178=)
n.549C=
11g.77156065C>GCA381931658MYO7Ac.444C>G (p.Asn148Lys)
c.411C>G (p.Asn137Lys)
c.186C>G (p.Asn62Lys)
n.764C>G
n.766C>G
c.534C>G (p.Asn178Lys)
n.549C>G
11g.77156065C>TCA475792530MYO7Ac.444C>T (p.Asn148=)
c.411C>T (p.Asn137=)
c.186C>T (p.Asn62=)
n.764C>T
n.766C>T
c.534C>T (p.Asn178=)
n.549C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77156066A>CCA381931659MYO7Ac.445A>C (p.Ser149Arg)
c.412A>C (p.Ser138Arg)
c.187A>C (p.Ser63Arg)
n.765A>C
n.767A>C
c.535A>C (p.Ser179Arg)
n.550A>C
11g.77156066A>GCA381931660MYO7Ac.445A>G (p.Ser149Gly)
c.412A>G (p.Ser138Gly)
c.187A>G (p.Ser63Gly)
n.765A>G
n.767A>G
c.535A>G (p.Ser179Gly)
n.550A>G
COSMIC
11g.77156066A>TCA381931661MYO7Ac.445A>T (p.Ser149Cys)
c.412A>T (p.Ser138Cys)
c.187A>T (p.Ser63Cys)
n.765A>T
n.767A>T
c.535A>T (p.Ser179Cys)
n.550A>T
11g.77156067G>ACA381931663MYO7Ac.446G>A (p.Ser149Asn)
c.413G>A (p.Ser138Asn)
c.188G>A (p.Ser63Asn)
n.766G>A
n.768G>A
c.536G>A (p.Ser179Asn)
n.551G>A
11g.77156067G>CCA381931664MYO7Ac.446G>C (p.Ser149Thr)
c.413G>C (p.Ser138Thr)
c.188G>C (p.Ser63Thr)
n.766G>C
n.768G>C
c.536G>C (p.Ser179Thr)
n.551G>C
11g.77156067G>TCA381931662MYO7Ac.446G>T (p.Ser149Ile)
c.413G>T (p.Ser138Ile)
c.188G>T (p.Ser63Ile)
n.766G>T
n.768G>T
c.536G>T (p.Ser179Ile)
n.551G>T
11g.77156068C>ACA381931666MYO7Ac.447C>A (p.Ser149Arg)
c.414C>A (p.Ser138Arg)
c.189C>A (p.Ser63Arg)
n.767C>A
n.769C>A
c.537C>A (p.Ser179Arg)
n.552C>A
ClinVar
11g.77156068C>GCA381931665MYO7Ac.447C>G (p.Ser149Arg)
c.414C>G (p.Ser138Arg)
c.189C>G (p.Ser63Arg)
n.767C>G
n.769C>G
c.537C>G (p.Ser179Arg)
n.552C>G
gnomAD v4
11g.77156068C>TCA475792532MYO7Ac.447C>T (p.Ser149=)
c.414C>T (p.Ser138=)
c.189C>T (p.Ser63=)
n.767C>T
n.769C>T
c.537C>T (p.Ser179=)
n.552C>T
11g.77156069C>ACA182403MYO7Ac.448C>A (p.Arg150=)
c.415C>A (p.Arg139=)
c.190C>A (p.Arg64=)
n.768C>A
n.770C>A
c.538C>A (p.Arg180=)
n.553C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156069C=CA1984094203MYO7Ac.448C= (p.Arg150=)
c.415C= (p.Arg139=)
c.190C= (p.Arg64=)
n.768C=
n.770C=
c.538C= (p.Arg180=)
n.553C=
11g.77156069C>GCA381931667MYO7Ac.448C>G (p.Arg150Gly)
c.415C>G (p.Arg139Gly)
c.190C>G (p.Arg64Gly)
n.768C>G
n.770C>G
c.538C>G (p.Arg180Gly)
n.553C>G
11g.77156069C>TCA277957MYO7Ac.448C>T (p.Arg150Ter)
c.415C>T (p.Arg139Ter)
c.190C>T (p.Arg64Ter)
n.768C>T
n.770C>T
c.538C>T (p.Arg180Ter)
n.553C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77156070G>ACA132330MYO7Ac.449G>A (p.Arg150Gln)
c.416G>A (p.Arg139Gln)
c.191G>A (p.Arg64Gln)
n.769G>A
n.771G>A
c.539G>A (p.Arg180Gln)
n.554G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156070G>CCA381931668MYO7Ac.449G>C (p.Arg150Pro)
c.416G>C (p.Arg139Pro)
c.191G>C (p.Arg64Pro)
n.769G>C
n.771G>C
c.539G>C (p.Arg180Pro)
n.554G>C
11g.77156070G=CA1984094214MYO7Ac.449G= (p.Arg150=)
c.416G= (p.Arg139=)
c.191G= (p.Arg64=)
n.769G=
n.771G=
c.539G= (p.Arg180=)
n.554G=
11g.77156070G>TCA381931669MYO7Ac.449G>T (p.Arg150Leu)
c.416G>T (p.Arg139Leu)
c.191G>T (p.Arg64Leu)
n.769G>T
n.771G>T
c.539G>T (p.Arg180Leu)
n.554G>T
11g.77156071A>CCA475792535MYO7Ac.450A>C (p.Arg150=)
c.417A>C (p.Arg139=)
c.192A>C (p.Arg64=)
n.770A>C
n.772A>C
c.540A>C (p.Arg180=)
n.555A>C
11g.77156071A>GCA475792538MYO7Ac.450A>G (p.Arg150=)
c.417A>G (p.Arg139=)
c.192A>G (p.Arg64=)
n.770A>G
n.772A>G
c.540A>G (p.Arg180=)
n.555A>G
11g.77156071A>TCA475792536MYO7Ac.450A>T (p.Arg150=)
c.417A>T (p.Arg139=)
c.192A>T (p.Arg64=)
n.770A>T
n.772A>T
c.540A>T (p.Arg180=)
n.555A>T
11g.77156072G>ACA381931670MYO7Ac.451G>A (p.Asp151Asn)
c.418G>A (p.Asp140Asn)
c.193G>A (p.Asp65Asn)
n.771G>A
n.773G>A
c.541G>A (p.Asp181Asn)
n.556G>A
11g.77156072G>CCA381931671MYO7Ac.451G>C (p.Asp151His)
c.418G>C (p.Asp140His)
c.193G>C (p.Asp65His)
n.771G>C
n.773G>C
c.541G>C (p.Asp181His)
n.556G>C
11g.77156072G>TCA381931672MYO7Ac.451G>T (p.Asp151Tyr)
c.418G>T (p.Asp140Tyr)
c.193G>T (p.Asp65Tyr)
n.771G>T
n.773G>T
c.541G>T (p.Asp181Tyr)
n.556G>T
11g.77156073A>CCA381931673MYO7Ac.452A>C (p.Asp151Ala)
c.419A>C (p.Asp140Ala)
c.194A>C (p.Asp65Ala)
n.772A>C
n.774A>C
c.542A>C (p.Asp181Ala)
n.557A>C
ClinVar
11g.77156073A>GCA381931674MYO7Ac.452A>G (p.Asp151Gly)
c.419A>G (p.Asp140Gly)
c.194A>G (p.Asp65Gly)
n.772A>G
n.774A>G
c.542A>G (p.Asp181Gly)
n.557A>G
gnomAD v4
11g.77156073A>TCA381931675MYO7Ac.452A>T (p.Asp151Val)
c.419A>T (p.Asp140Val)
c.194A>T (p.Asp65Val)
n.772A>T
n.774A>T
c.542A>T (p.Asp181Val)
n.557A>T
11g.77156074C>ACA381931677MYO7Ac.453C>A (p.Asp151Glu)
c.420C>A (p.Asp140Glu)
c.195C>A (p.Asp65Glu)
n.773C>A
n.775C>A
c.543C>A (p.Asp181Glu)
n.558C>A
11g.77156074C>GCA381931676MYO7Ac.453C>G (p.Asp151Glu)
c.420C>G (p.Asp140Glu)
c.195C>G (p.Asp65Glu)
n.773C>G
n.775C>G
c.543C>G (p.Asp181Glu)
n.558C>G
11g.77156074C>TCA475792585MYO7Ac.453C>T (p.Asp151=)
c.420C>T (p.Asp140=)
c.195C>T (p.Asp65=)
n.773C>T
n.775C>T
c.543C>T (p.Asp181=)
n.558C>T
11g.77156074_77156075insACGCA2792785090MYO7Ac.453_454insACG (p.Asp151_Gln152insThr)
c.420_421insACG (p.Asp140_Gln141insThr)
c.195_196insACG (p.Asp65_Gln66insThr)
n.773_774insACG
n.775_776insACG
c.543_544insACG (p.Asp181_Gln182insThr)
n.558_559insACG
11g.77156075C>ACA381931678MYO7Ac.454C>A (p.Gln152Lys)
c.421C>A (p.Gln141Lys)
c.196C>A (p.Gln66Lys)
n.774C>A
n.776C>A
c.544C>A (p.Gln182Lys)
n.559C>A
11g.77156075C>GCA381931679MYO7Ac.454C>G (p.Gln152Glu)
c.421C>G (p.Gln141Glu)
c.196C>G (p.Gln66Glu)
n.774C>G
n.776C>G
c.544C>G (p.Gln182Glu)
n.559C>G
11g.77156075C>TCA381931680MYO7Ac.454C>T (p.Gln152Ter)
c.421C>T (p.Gln141Ter)
c.196C>T (p.Gln66Ter)
n.774C>T
n.776C>T
c.544C>T (p.Gln182Ter)
n.559C>T
11g.77156076A>CCA381931681MYO7Ac.455A>C (p.Gln152Pro)
c.422A>C (p.Gln141Pro)
c.197A>C (p.Gln66Pro)
n.775A>C
n.777A>C
c.545A>C (p.Gln182Pro)
n.560A>C
11g.77156076A>GCA381931682MYO7Ac.455A>G (p.Gln152Arg)
c.422A>G (p.Gln141Arg)
c.197A>G (p.Gln66Arg)
n.775A>G
n.777A>G
c.545A>G (p.Gln182Arg)
n.560A>G
11g.77156076A>TCA381931683MYO7Ac.455A>T (p.Gln152Leu)
c.422A>T (p.Gln141Leu)
c.197A>T (p.Gln66Leu)
n.775A>T
n.777A>T
c.545A>T (p.Gln182Leu)
n.560A>T
11g.77156077G>ACA475792588MYO7Ac.456G>A (p.Gln152=)
c.423G>A (p.Gln141=)
c.198G>A (p.Gln66=)
n.776G>A
n.778G>A
c.546G>A (p.Gln182=)
n.561G>A
11g.77156077G>CCA381931684MYO7Ac.456G>C (p.Gln152His)
c.423G>C (p.Gln141His)
c.198G>C (p.Gln66His)
n.776G>C
n.778G>C
c.546G>C (p.Gln182His)
n.561G>C
11g.77156077G>TCA381931685MYO7Ac.456G>T (p.Gln152His)
c.423G>T (p.Gln141His)
c.198G>T (p.Gln66His)
n.776G>T
n.778G>T
c.546G>T (p.Gln182His)
n.561G>T
11g.77156078T>ACA381931686MYO7Ac.457T>A (p.Cys153Ser)
c.424T>A (p.Cys142Ser)
c.199T>A (p.Cys67Ser)
n.777T>A
n.779T>A
c.547T>A (p.Cys183Ser)
n.562T>A
11g.77156078T>CCA381931687MYO7Ac.457T>C (p.Cys153Arg)
c.424T>C (p.Cys142Arg)
c.199T>C (p.Cys67Arg)
n.777T>C
n.779T>C
c.547T>C (p.Cys183Arg)
n.562T>C
11g.77156078T>GCA381931688MYO7Ac.457T>G (p.Cys153Gly)
c.424T>G (p.Cys142Gly)
c.199T>G (p.Cys67Gly)
n.777T>G
n.779T>G
c.547T>G (p.Cys183Gly)
n.562T>G
11g.77156079G>ACA278672MYO7Ac.458G>A (p.Cys153Tyr)
c.425G>A (p.Cys142Tyr)
c.200G>A (p.Cys67Tyr)
n.778G>A
n.780G>A
c.548G>A (p.Cys183Tyr)
n.563G>A
ClinVar dbSNP
11g.77156079G>CCA381931689MYO7Ac.458G>C (p.Cys153Ser)
c.425G>C (p.Cys142Ser)
c.200G>C (p.Cys67Ser)
n.778G>C
n.780G>C
c.548G>C (p.Cys183Ser)
n.563G>C
11g.77156079G=CA1984094221MYO7Ac.458G= (p.Cys153=)
c.425G= (p.Cys142=)
c.200G= (p.Cys67=)
n.778G=
n.780G=
c.548G= (p.Cys183=)
n.563G=
11g.77156079G>TCA6197131MYO7Ac.458G>T (p.Cys153Phe)
c.425G>T (p.Cys142Phe)
c.200G>T (p.Cys67Phe)
n.778G>T
n.780G>T
c.548G>T (p.Cys183Phe)
n.563G>T
dbSNP ExAC gnomAD v2 gnomAD v4
11g.77156080C>ACA381931690MYO7Ac.459C>A (p.Cys153Ter)
c.426C>A (p.Cys142Ter)
c.201C>A (p.Cys67Ter)
n.779C>A
n.781C>A
c.549C>A (p.Cys183Ter)
n.564C>A
11g.77156080C=CA1984094233MYO7Ac.459C= (p.Cys153=)
c.426C= (p.Cys142=)
c.201C= (p.Cys67=)
n.779C=
n.781C=
c.549C= (p.Cys183=)
n.564C=
11g.77156080C>GCA381931691MYO7Ac.459C>G (p.Cys153Trp)
c.426C>G (p.Cys142Trp)
c.201C>G (p.Cys67Trp)
n.779C>G
n.781C>G
c.549C>G (p.Cys183Trp)
n.564C>G
11g.77156080C>TCA475792592MYO7Ac.459C>T (p.Cys153=)
c.426C>T (p.Cys142=)
c.201C>T (p.Cys67=)
n.779C>T
n.781C>T
c.549C>T (p.Cys183=)
n.564C>T
dbSNP gnomAD v2 gnomAD v4
11g.77156081T>ACA381931692MYO7Ac.460T>A (p.Cys154Ser)
c.427T>A (p.Cys143Ser)
c.202T>A (p.Cys68Ser)
n.780T>A
n.782T>A
c.550T>A (p.Cys184Ser)
n.565T>A
11g.77156081T>CCA381931693MYO7Ac.460T>C (p.Cys154Arg)
c.427T>C (p.Cys143Arg)
c.202T>C (p.Cys68Arg)
n.780T>C
n.782T>C
c.550T>C (p.Cys184Arg)
n.565T>C
11g.77156081T>GCA381931694MYO7Ac.460T>G (p.Cys154Gly)
c.427T>G (p.Cys143Gly)
c.202T>G (p.Cys68Gly)
n.780T>G
n.782T>G
c.550T>G (p.Cys184Gly)
n.565T>G
11g.77156082G>ACA381931695MYO7Ac.461G>A (p.Cys154Tyr)
c.428G>A (p.Cys143Tyr)
c.203G>A (p.Cys68Tyr)
n.781G>A
n.783G>A
c.551G>A (p.Cys184Tyr)
n.566G>A
11g.77156082G>CCA381931696MYO7Ac.461G>C (p.Cys154Ser)
c.428G>C (p.Cys143Ser)
c.203G>C (p.Cys68Ser)
n.781G>C
n.783G>C
c.551G>C (p.Cys184Ser)
n.566G>C
11g.77156082G>TCA381931697MYO7Ac.461G>T (p.Cys154Phe)
c.428G>T (p.Cys143Phe)
c.203G>T (p.Cys68Phe)
n.781G>T
n.783G>T
c.551G>T (p.Cys184Phe)
n.566G>T
11g.77156083C>ACA381931698MYO7Ac.462C>A (p.Cys154Ter)
c.429C>A (p.Cys143Ter)
c.204C>A (p.Cys68Ter)
n.782C>A
n.784C>A
c.552C>A (p.Cys184Ter)
n.567C>A
ClinVar dbSNP
11g.77156083C=CA1984094246MYO7Ac.462C= (p.Cys154=)
c.429C= (p.Cys143=)
c.204C= (p.Cys68=)
n.782C=
n.784C=
c.552C= (p.Cys184=)
n.567C=
11g.77156083C>GCA381931699MYO7Ac.462C>G (p.Cys154Trp)
c.429C>G (p.Cys143Trp)
c.204C>G (p.Cys68Trp)
n.782C>G
n.784C>G
c.552C>G (p.Cys184Trp)
n.567C>G
11g.77156083C>TCA475792594MYO7Ac.462C>T (p.Cys154=)
c.429C>T (p.Cys143=)
c.204C>T (p.Cys68=)
n.782C>T
n.784C>T
c.552C>T (p.Cys184=)
n.567C>T
11g.77156084A=CA1984094255MYO7Ac.463A= (p.Ile155=)
c.430A= (p.Ile144=)
c.205A= (p.Ile69=)
n.783A=
n.785A=
c.553A= (p.Ile185=)
n.568A=
11g.77156084A>CCA381931700MYO7Ac.463A>C (p.Ile155Leu)
c.430A>C (p.Ile144Leu)
c.205A>C (p.Ile69Leu)
n.783A>C
n.785A>C
c.553A>C (p.Ile185Leu)
n.568A>C
11g.77156084A>GCA381931701MYO7Ac.463A>G (p.Ile155Val)
c.430A>G (p.Ile144Val)
c.205A>G (p.Ile69Val)
n.783A>G
n.785A>G
c.553A>G (p.Ile185Val)
n.568A>G
dbSNP gnomAD v4
11g.77156084A>TCA381931702MYO7Ac.463A>T (p.Ile155Phe)
c.430A>T (p.Ile144Phe)
c.205A>T (p.Ile69Phe)
n.783A>T
n.785A>T
c.553A>T (p.Ile185Phe)
n.568A>T
11g.77156085T>ACA381931703MYO7Ac.464T>A (p.Ile155Asn)
c.431T>A (p.Ile144Asn)
c.206T>A (p.Ile69Asn)
n.784T>A
n.786T>A
c.554T>A (p.Ile185Asn)
n.569T>A
11g.77156085T>CCA381931704MYO7Ac.464T>C (p.Ile155Thr)
c.431T>C (p.Ile144Thr)
c.206T>C (p.Ile69Thr)
n.784T>C
n.786T>C
c.554T>C (p.Ile185Thr)
n.569T>C
11g.77156085T>GCA381931705MYO7Ac.464T>G (p.Ile155Ser)
c.431T>G (p.Ile144Ser)
c.206T>G (p.Ile69Ser)
n.784T>G
n.786T>G
c.554T>G (p.Ile185Ser)
n.569T>G
11g.77156086C>ACA475792597MYO7Ac.465C>A (p.Ile155=)
c.432C>A (p.Ile144=)
c.207C>A (p.Ile69=)
n.785C>A
n.787C>A
c.555C>A (p.Ile185=)
n.570C>A
11g.77156086C=CA1984094266MYO7Ac.465C= (p.Ile155=)
c.432C= (p.Ile144=)
c.207C= (p.Ile69=)
n.785C=
n.787C=
c.555C= (p.Ile185=)
n.570C=
11g.77156086C>GCA381931706MYO7Ac.465C>G (p.Ile155Met)
c.432C>G (p.Ile144Met)
c.207C>G (p.Ile69Met)
n.785C>G
n.787C>G
c.555C>G (p.Ile185Met)
n.570C>G
11g.77156086C>TCA6197132MYO7Ac.465C>T (p.Ile155=)
c.432C>T (p.Ile144=)
c.207C>T (p.Ile69=)
n.785C>T
n.787C>T
c.555C>T (p.Ile185=)
n.570C>T
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.77156087A>CCA381931707MYO7Ac.466A>C (p.Ile156Leu)
c.433A>C (p.Ile145Leu)
c.208A>C (p.Ile70Leu)
n.786A>C
n.788A>C
c.556A>C (p.Ile186Leu)
n.571A>C
11g.77156087A>GCA381931708MYO7Ac.466A>G (p.Ile156Val)
c.433A>G (p.Ile145Val)
c.208A>G (p.Ile70Val)
n.786A>G
n.788A>G
c.556A>G (p.Ile186Val)
n.571A>G
11g.77156087A>TCA381931709MYO7Ac.466A>T (p.Ile156Phe)
c.433A>T (p.Ile145Phe)
c.208A>T (p.Ile70Phe)
n.786A>T
n.788A>T
c.556A>T (p.Ile186Phe)
n.571A>T
11g.77156088T>ACA381931710MYO7Ac.467T>A (p.Ile156Asn)
c.434T>A (p.Ile145Asn)
c.209T>A (p.Ile70Asn)
n.787T>A
n.789T>A
c.557T>A (p.Ile186Asn)
n.572T>A
11g.77156088T>CCA381931711MYO7Ac.467T>C (p.Ile156Thr)
c.434T>C (p.Ile145Thr)
c.209T>C (p.Ile70Thr)
n.787T>C
n.789T>C
c.557T>C (p.Ile186Thr)
n.572T>C
gnomAD v4
11g.77156088T>GCA381931712MYO7Ac.467T>G (p.Ile156Ser)
c.434T>G (p.Ile145Ser)
c.209T>G (p.Ile70Ser)
n.787T>G
n.789T>G
c.557T>G (p.Ile186Ser)
n.572T>G
gnomAD v4
11g.77156089C>ACA475792598MYO7Ac.468C>A (p.Ile156=)
c.435C>A (p.Ile145=)
c.210C>A (p.Ile70=)
n.788C>A
n.790C>A
c.558C>A (p.Ile186=)
n.573C>A
11g.77156089C=CA1984094278MYO7Ac.468C= (p.Ile156=)
c.435C= (p.Ile145=)
c.210C= (p.Ile70=)
n.788C=
n.790C=
c.558C= (p.Ile186=)
n.573C=
11g.77156089C>GCA381931713MYO7Ac.468C>G (p.Ile156Met)
c.435C>G (p.Ile145Met)
c.210C>G (p.Ile70Met)
n.788C>G
n.790C>G
c.558C>G (p.Ile186Met)
n.573C>G
COSMIC
11g.77156089C>TCA132341MYO7Ac.468C>T (p.Ile156=)
c.435C>T (p.Ile145=)
c.210C>T (p.Ile70=)
n.788C>T
n.790C>T
c.558C>T (p.Ile186=)
n.573C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156090A>CCA381931714MYO7Ac.469A>C (p.Ser157Arg)
c.436A>C (p.Ser146Arg)
c.211A>C (p.Ser71Arg)
n.789A>C
n.791A>C
c.559A>C (p.Ser187Arg)
n.574A>C
gnomAD v4
11g.77156090A>GCA381931715MYO7Ac.469A>G (p.Ser157Gly)
c.436A>G (p.Ser146Gly)
c.211A>G (p.Ser71Gly)
n.789A>G
n.791A>G
c.559A>G (p.Ser187Gly)
n.574A>G
11g.77156090A>TCA381931716MYO7Ac.469A>T (p.Ser157Cys)
c.436A>T (p.Ser146Cys)
c.211A>T (p.Ser71Cys)
n.789A>T
n.791A>T
c.559A>T (p.Ser187Cys)
n.574A>T
11g.77156091G>ACA381931717MYO7Ac.470G>A (p.Ser157Asn)
c.437G>A (p.Ser146Asn)
c.212G>A (p.Ser71Asn)
n.790G>A
n.792G>A
c.560G>A (p.Ser187Asn)
n.575G>A
gnomAD v4
11g.77156091G>CCA381931718MYO7Ac.470G>C (p.Ser157Thr)
c.437G>C (p.Ser146Thr)
c.212G>C (p.Ser71Thr)
n.790G>C
n.792G>C
c.560G>C (p.Ser187Thr)
n.575G>C
11g.77156091G>TCA381931719MYO7Ac.470G>T (p.Ser157Ile)
c.437G>T (p.Ser146Ile)
c.212G>T (p.Ser71Ile)
n.790G>T
n.792G>T
c.560G>T (p.Ser187Ile)
n.575G>T
gnomAD v4
11g.77156092G>ACA278726MYO7Ac.470+1G>A (n.470+1G>A)
c.437+1G>A (n.437+1G>A)
c.212+1G>A (n.212+1G>A)
n.790+1G>A
n.792+1G>A
c.560+1G>A (n.560+1G>A)
n.575+1G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77156092G>CCA381931721MYO7Ac.470+1G>C (n.470+1G>C)
c.437+1G>C (n.437+1G>C)
c.212+1G>C (n.212+1G>C)
n.790+1G>C
n.792+1G>C
c.560+1G>C (n.560+1G>C)
n.575+1G>C
11g.77156092G=CA1984094292MYO7Ac.470+1G= (n.470+1G=)
c.437+1G= (n.437+1G=)
c.212+1G= (n.212+1G=)
n.790+1G=
n.792+1G=
c.560+1G= (n.560+1G=)
n.575+1G=
11g.77156092G>TCA381931720MYO7Ac.470+1G>T (n.470+1G>T)
c.437+1G>T (n.437+1G>T)
c.212+1G>T (n.212+1G>T)
n.790+1G>T
n.792+1G>T
c.560+1G>T (n.560+1G>T)
n.575+1G>T
11g.77156093T>ACA381931723MYO7Ac.470+2T>A (n.470+2T>A)
c.437+2T>A (n.437+2T>A)
c.212+2T>A (n.212+2T>A)
n.790+2T>A
n.792+2T>A
c.560+2T>A (n.560+2T>A)
n.575+2T>A
11g.77156093T>CCA381931722MYO7Ac.470+2T>C (n.470+2T>C)
c.437+2T>C (n.437+2T>C)
c.212+2T>C (n.212+2T>C)
n.790+2T>C
n.792+2T>C
c.560+2T>C (n.560+2T>C)
n.575+2T>C
11g.77156093T>GCA381931724MYO7Ac.470+2T>G (n.470+2T>G)
c.437+2T>G (n.437+2T>G)
c.212+2T>G (n.212+2T>G)
n.790+2T>G
n.792+2T>G
c.560+2T>G (n.560+2T>G)
n.575+2T>G
11g.77156094G>ACA1139771173MYO7Ac.470+3G>A (n.470+3G>A)
c.437+3G>A (n.437+3G>A)
c.212+3G>A (n.212+3G>A)
n.790+3G>A
n.792+3G>A
c.560+3G>A (n.560+3G>A)
n.575+3G>A
11g.77156094G>TCA2615251089MYO7Ac.470+3G>T (n.470+3G>T)
c.437+3G>T (n.437+3G>T)
c.212+3G>T (n.212+3G>T)
n.790+3G>T
n.792+3G>T
c.560+3G>T (n.560+3G>T)
n.575+3G>T
gnomAD v4
11g.77156095G>ACA6197133MYO7Ac.470+4G>A (n.470+4G>A)
c.437+4G>A (n.437+4G>A)
c.212+4G>A (n.212+4G>A)
n.790+4G>A
n.792+4G>A
c.560+4G>A (n.560+4G>A)
n.575+4G>A
dbSNP ExAC gnomAD v2 gnomAD v4
11g.77156095G>CCA6197134MYO7Ac.470+4G>C (n.470+4G>C)
c.437+4G>C (n.437+4G>C)
c.212+4G>C (n.212+4G>C)
n.790+4G>C
n.792+4G>C
c.560+4G>C (n.560+4G>C)
n.575+4G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156095G=CA1984094300MYO7Ac.470+4G= (n.470+4G=)
c.437+4G= (n.437+4G=)
c.212+4G= (n.212+4G=)
n.790+4G=
n.792+4G=
c.560+4G= (n.560+4G=)
n.575+4G=
11g.77156096G>ACA6197135MYO7Ac.470+5G>A (n.470+5G>A)
c.437+5G>A (n.437+5G>A)
c.212+5G>A (n.212+5G>A)
n.790+5G>A
n.792+5G>A
c.560+5G>A (n.560+5G>A)
n.575+5G>A
dbSNP ExAC gnomAD v2 gnomAD v4
11g.77156096G=CA1984094303MYO7Ac.470+5G= (n.470+5G=)
c.437+5G= (n.437+5G=)
c.212+5G= (n.212+5G=)
n.790+5G=
n.792+5G=
c.560+5G= (n.560+5G=)
n.575+5G=
11g.77156097C>ACA6197137MYO7Ac.470+6C>A (n.470+6C>A)
c.437+6C>A (n.437+6C>A)
c.212+6C>A (n.212+6C>A)
n.790+6C>A
n.792+6C>A
c.560+6C>A (n.560+6C>A)
n.575+6C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156097C=CA1984094306MYO7Ac.470+6C= (n.470+6C=)
c.437+6C= (n.437+6C=)
c.212+6C= (n.212+6C=)
n.790+6C=
n.792+6C=
c.560+6C= (n.560+6C=)
n.575+6C=
11g.77156097C>GCA2615251090MYO7Ac.470+6C>G (n.470+6C>G)
c.437+6C>G (n.437+6C>G)
c.212+6C>G (n.212+6C>G)
n.790+6C>G
n.792+6C>G
c.560+6C>G (n.560+6C>G)
n.575+6C>G
gnomAD v4
11g.77156097C>TCA6197136MYO7Ac.470+6C>T (n.470+6C>T)
c.437+6C>T (n.437+6C>T)
c.212+6C>T (n.212+6C>T)
n.790+6C>T
n.792+6C>T
c.560+6C>T (n.560+6C>T)
n.575+6C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156098G>ACA6197138MYO7Ac.470+7G>A (n.470+7G>A)
c.437+7G>A (n.437+7G>A)
c.212+7G>A (n.212+7G>A)
n.790+7G>A
n.792+7G>A
c.560+7G>A (n.560+7G>A)
n.575+7G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156098G=CA1984094319MYO7Ac.470+7G= (n.470+7G=)
c.437+7G= (n.437+7G=)
c.212+7G= (n.212+7G=)
n.790+7G=
n.792+7G=
c.560+7G= (n.560+7G=)
n.575+7G=
11g.77156099G>CCA2615251093MYO7Ac.470+8G>C (n.470+8G>C)
c.437+8G>C (n.437+8G>C)
c.212+8G>C (n.212+8G>C)
n.790+8G>C
n.792+8G>C
c.560+8G>C (n.560+8G>C)
n.575+8G>C
gnomAD v4
11g.77156100C>ACA2615251094MYO7Ac.470+9C>A (n.470+9C>A)
c.437+9C>A (n.437+9C>A)
c.212+9C>A (n.212+9C>A)
n.790+9C>A
n.792+9C>A
c.560+9C>A (n.560+9C>A)
n.575+9C>A
gnomAD v4
11g.77156101C>TCA2615251095MYO7Ac.470+10C>T (n.470+10C>T)
c.437+10C>T (n.437+10C>T)
c.212+10C>T (n.212+10C>T)
n.790+10C>T
n.792+10C>T
c.560+10C>T (n.560+10C>T)
n.575+10C>T
gnomAD v4
11g.77156102C>ACA2574930664MYO7Ac.470+11C>A (n.470+11C>A)
c.437+11C>A (n.437+11C>A)
c.212+11C>A (n.212+11C>A)
n.790+11C>A
n.792+11C>A
c.560+11C>A (n.560+11C>A)
n.575+11C>A
11g.77156102C>TCA2739265959MYO7Ac.470+11C>T (n.470+11C>T)
c.437+11C>T (n.437+11C>T)
c.212+11C>T (n.212+11C>T)
n.790+11C>T
n.792+11C>T
c.560+11C>T (n.560+11C>T)
n.575+11C>T
ClinVar
11g.77156103A=CA1984094328MYO7Ac.470+12A= (n.470+12A=)
c.437+12A= (n.437+12A=)
c.212+12A= (n.212+12A=)
n.790+12A=
n.792+12A=
c.560+12A= (n.560+12A=)
n.575+12A=
11g.77156103A>TCA6197139MYO7Ac.470+12A>T (n.470+12A>T)
c.437+12A>T (n.437+12A>T)
c.212+12A>T (n.212+12A>T)
n.790+12A>T
n.792+12A>T
c.560+12A>T (n.560+12A>T)
n.575+12A>T
dbSNP ExAC gnomAD v2 gnomAD v4
11g.77156104G>ACA1984094334MYO7Ac.470+13G>A (n.470+13G>A)
c.437+13G>A (n.437+13G>A)
c.212+13G>A (n.212+13G>A)
n.790+13G>A
n.792+13G>A
c.560+13G>A (n.560+13G>A)
n.575+13G>A
ClinVar dbSNP gnomAD v4
11g.77156104G=CA1984094331MYO7Ac.470+13G= (n.470+13G=)
c.437+13G= (n.437+13G=)
c.212+13G= (n.212+13G=)
n.790+13G=
n.792+13G=
c.560+13G= (n.560+13G=)
n.575+13G=
11g.77156106_77156125delCA2615251097MYO7Ac.470+15_470+34del (n.470+15_470+34del)
c.437+15_437+34del (n.437+15_437+34del)
c.212+15_212+34del (n.212+15_212+34del)
n.790+15_790+34del
n.792+15_792+34del
c.560+15_560+34del (n.560+15_560+34del)
n.575+15_575+34del
gnomAD v4
11g.77156105C>ACA1984094342MYO7Ac.470+14C>A (n.470+14C>A)
c.437+14C>A (n.437+14C>A)
c.212+14C>A (n.212+14C>A)
n.790+14C>A
n.792+14C>A
c.560+14C>A (n.560+14C>A)
n.575+14C>A
dbSNP
11g.77156105C=CA1984094341MYO7Ac.470+14C= (n.470+14C=)
c.437+14C= (n.437+14C=)
c.212+14C= (n.212+14C=)
n.790+14C=
n.792+14C=
c.560+14C= (n.560+14C=)
n.575+14C=
11g.77156105C>GCA224826506MYO7Ac.470+14C>G (n.470+14C>G)
c.437+14C>G (n.437+14C>G)
c.212+14C>G (n.212+14C>G)
n.790+14C>G
n.792+14C>G
c.560+14C>G (n.560+14C>G)
n.575+14C>G
dbSNP
11g.77156106A=CA1984094347MYO7Ac.470+15A= (n.470+15A=)
c.437+15A= (n.437+15A=)
c.212+15A= (n.212+15A=)
n.790+15A=
n.792+15A=
c.560+15A= (n.560+15A=)
n.575+15A=
11g.77156106A>CCA600343188MYO7Ac.470+15A>C (n.470+15A>C)
c.437+15A>C (n.437+15A>C)
c.212+15A>C (n.212+15A>C)
n.790+15A>C
n.792+15A>C
c.560+15A>C (n.560+15A>C)
n.575+15A>C
dbSNP gnomAD v2 gnomAD v4
11g.77156106A>GCA6197140MYO7Ac.470+15A>G (n.470+15A>G)
c.437+15A>G (n.437+15A>G)
c.212+15A>G (n.212+15A>G)
n.790+15A>G
n.792+15A>G
c.560+15A>G (n.560+15A>G)
n.575+15A>G
dbSNP ExAC gnomAD v2 gnomAD v4
11g.77156107C=CA1984094354MYO7Ac.470+16C= (n.470+16C=)
c.437+16C= (n.437+16C=)
c.212+16C= (n.212+16C=)
n.790+16C=
n.792+16C=
c.560+16C= (n.560+16C=)
n.575+16C=
11g.77156107C>TCA600343189MYO7Ac.470+16C>T (n.470+16C>T)
c.437+16C>T (n.437+16C>T)
c.212+16C>T (n.212+16C>T)
n.790+16C>T
n.792+16C>T
c.560+16C>T (n.560+16C>T)
n.575+16C>T
dbSNP gnomAD v2 gnomAD v4
11g.77156109T>GCA2739265960MYO7Ac.470+18T>G (n.470+18T>G)
c.437+18T>G (n.437+18T>G)
c.212+18T>G (n.212+18T>G)
n.790+18T>G
n.792+18T>G
c.560+18T>G (n.560+18T>G)
n.575+18T>G
ClinVar
11g.77156110G>TCA2574930665MYO7Ac.470+19G>T (n.470+19G>T)
c.437+19G>T (n.437+19G>T)
c.212+19G>T (n.212+19G>T)
n.790+19G>T
n.792+19G>T
c.560+19G>T (n.560+19G>T)
n.575+19G>T
gnomAD v4
11g.77156111T>CCA2615251104MYO7Ac.470+20T>C (n.470+20T>C)
c.437+20T>C (n.437+20T>C)
c.212+20T>C (n.212+20T>C)
n.790+20T>C
n.792+20T>C
c.560+20T>C (n.560+20T>C)
n.575+20T>C
gnomAD v4
11g.77156111T>GCA2615251105MYO7Ac.470+20T>G (n.470+20T>G)
c.437+20T>G (n.437+20T>G)
c.212+20T>G (n.212+20T>G)
n.790+20T>G
n.792+20T>G
c.560+20T>G (n.560+20T>G)
n.575+20T>G
gnomAD v4
11g.77156113T>ACA2615251106MYO7Ac.470+22T>A (n.470+22T>A)
c.437+22T>A (n.437+22T>A)
c.212+22T>A (n.212+22T>A)
n.790+22T>A
n.792+22T>A
c.560+22T>A (n.560+22T>A)
n.575+22T>A
gnomAD v4
11g.77156114G>ACA6197141MYO7Ac.470+23G>A (n.470+23G>A)
c.437+23G>A (n.437+23G>A)
c.212+23G>A (n.212+23G>A)
n.790+23G>A
n.792+23G>A
c.560+23G>A (n.560+23G>A)
n.575+23G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156114G=CA1984094361MYO7Ac.470+23G= (n.470+23G=)
c.437+23G= (n.437+23G=)
c.212+23G= (n.212+23G=)
n.790+23G=
n.792+23G=
c.560+23G= (n.560+23G=)
n.575+23G=
11g.77156116A=CA1984094364MYO7Ac.470+25A= (n.470+25A=)
c.437+25A= (n.437+25A=)
c.212+25A= (n.212+25A=)
n.790+25A=
n.792+25A=
c.560+25A= (n.560+25A=)
n.575+25A=
11g.77156116A>GCA6197142MYO7Ac.470+25A>G (n.470+25A>G)
c.437+25A>G (n.437+25A>G)
c.212+25A>G (n.212+25A>G)
n.790+25A>G
n.792+25A>G
c.560+25A>G (n.560+25A>G)
n.575+25A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156117G>CCA1984094370MYO7Ac.470+26G>C (n.470+26G>C)
c.437+26G>C (n.437+26G>C)
c.212+26G>C (n.212+26G>C)
n.790+26G>C
n.792+26G>C
c.560+26G>C (n.560+26G>C)
n.575+26G>C
dbSNP
11g.77156117G=CA1984094368MYO7Ac.470+26G= (n.470+26G=)
c.437+26G= (n.437+26G=)
c.212+26G= (n.212+26G=)
n.790+26G=
n.792+26G=
c.560+26G= (n.560+26G=)
n.575+26G=
11g.77156117G>TCA2615251110MYO7Ac.470+26G>T (n.470+26G>T)
c.437+26G>T (n.437+26G>T)
c.212+26G>T (n.212+26G>T)
n.790+26G>T
n.792+26G>T
c.560+26G>T (n.560+26G>T)
n.575+26G>T
gnomAD v4

Number of alleles fetched