Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
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

Number of alleles fetched