Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.77156018dup | CA278662 | MYO7A | c.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 |
11 | g.77156017_77156018dup | CA2615250884 | MYO7A | c.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 |
11 | g.77156018del | CA475792500 | MYO7A | c.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 |
11 | g.77156018C>A | CA177366 | MYO7A | c.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 |
11 | g.77156018C= | CA1984094060 | MYO7A | c.397C= (p.His133=) c.364C= (p.His122=) c.139C= (p.His47=) n.717C= n.719C= c.487C= (p.His163=) n.502C= | |
11 | g.77156018C>G | CA381931480 | MYO7A | c.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 |
11 | g.77156018C>T | CA278660 | MYO7A | c.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 |
11 | g.77156019A= | CA1984094072 | MYO7A | c.398A= (p.His133=) c.365A= (p.His122=) c.140A= (p.His47=) n.718A= n.720A= c.488A= (p.His163=) n.503A= | |
11 | g.77156019A>C | CA10604414 | MYO7A | c.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 |
11 | g.77156019A>G | CA381931481 | MYO7A | c.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 | |
11 | g.77156019A>T | CA381931482 | MYO7A | c.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 | |
11 | g.77156020C>A | CA381931485 | MYO7A | c.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 | |
11 | g.77156020C= | CA1984094076 | MYO7A | c.399C= (p.His133=) c.366C= (p.His122=) c.141C= (p.His47=) n.719C= n.721C= c.489C= (p.His163=) n.504C= | |
11 | g.77156020C>G | CA381931487 | MYO7A | c.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 |
11 | g.77156020C>T | CA6197121 | MYO7A | c.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 |
11 | g.77156020dup | CA2695215129 | MYO7A | c.399dup (p.Ile134HisfsTer6) c.366dup (p.Ile123HisfsTer6) c.141dup (p.Ile48HisfsTer6) n.719dup n.721dup c.489dup (p.Ile164HisfsTer6) n.504dup | |
11 | g.77156021A>C | CA381931489 | MYO7A | c.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 |
11 | g.77156021A>G | CA381931491 | MYO7A | c.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 |
11 | g.77156021A>T | CA381931493 | MYO7A | c.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 | |
11 | g.77156022T>A | CA278663 | MYO7A | c.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 |
11 | g.77156022T>C | CA10604413 | MYO7A | c.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 |
11 | g.77156022T>G | CA381931495 | MYO7A | c.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 | |
11 | g.77156022T= | CA1984094086 | MYO7A | c.401T= (p.Ile134=) c.368T= (p.Ile123=) c.143T= (p.Ile48=) n.721T= n.723T= c.491T= (p.Ile164=) n.506T= | |
11 | g.77156023C>A | CA475792507 | MYO7A | c.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 | |
11 | g.77156023C>G | CA381931497 | MYO7A | c.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 | |
11 | g.77156023C>T | CA475792508 | MYO7A | c.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 |
11 | g.77156024T>A | CA381931501 | MYO7A | c.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 | |
11 | g.77156024T>C | CA381931498 | MYO7A | c.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 | |
11 | g.77156024T>G | CA381931500 | MYO7A | c.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 | |
11 | g.77156025T>A | CA381931503 | MYO7A | c.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 | |
11 | g.77156025T>C | CA381931504 | MYO7A | c.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 | |
11 | g.77156025T>G | CA381931506 | MYO7A | c.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 | |
11 | g.77156026T>A | CA381931508 | MYO7A | c.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 | |
11 | g.77156026T>C | CA475792509 | MYO7A | c.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 | |
11 | g.77156026T>G | CA381931509 | MYO7A | c.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 | |
11 | g.77156027G>A | CA381931511 | MYO7A | c.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 |
11 | g.77156027G>C | CA381931512 | MYO7A | c.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 | |
11 | g.77156027G>T | CA381931513 | MYO7A | c.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 | |
11 | g.77156028C>A | CA381931515 | MYO7A | c.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 | |
11 | g.77156028C>G | CA381931517 | MYO7A | c.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 | |
11 | g.77156028C>T | CA381931518 | MYO7A | c.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 | |
11 | g.77156029C>A | CA475792510 | MYO7A | c.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 | |
11 | g.77156029C>G | CA475792512 | MYO7A | c.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 | |
11 | g.77156029C>T | CA475792511 | MYO7A | c.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 | |
11 | g.77156030A= | CA1984094097 | MYO7A | c.409A= (p.Ile137=) c.376A= (p.Ile126=) c.151A= (p.Ile51=) n.729A= n.731A= c.499A= (p.Ile167=) n.514A= | |
11 | g.77156030A>C | CA381931520 | MYO7A | c.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 | |
11 | g.77156030A>G | CA224826383 | MYO7A | c.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 |
11 | g.77156030A>T | CA381931519 | MYO7A | c.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 | |
11 | g.77156031T>A | CA381931521 | MYO7A | c.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 | |
11 | g.77156031T>C | CA381931522 | MYO7A | c.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 |
11 | g.77156031T>G | CA381931524 | MYO7A | c.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 | |
11 | g.77156031T= | CA1984094100 | MYO7A | c.410T= (p.Ile137=) c.377T= (p.Ile126=) c.152T= (p.Ile51=) n.730T= n.732T= c.500T= (p.Ile167=) n.515T= | |
11 | g.77156032T>A | CA475792513 | MYO7A | c.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 | |
11 | g.77156032T>C | CA475792514 | MYO7A | c.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 |
11 | g.77156032T>G | CA381931525 | MYO7A | c.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 | |
11 | g.77156032T= | CA1984094102 | MYO7A | c.411T= (p.Ile137=) c.378T= (p.Ile126=) c.153T= (p.Ile51=) n.731T= n.733T= c.501T= (p.Ile167=) n.516T= | |
11 | g.77156033G>A | CA381931526 | MYO7A | c.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 | |
11 | g.77156033G>C | CA381931527 | MYO7A | c.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 | |
11 | g.77156033G>T | CA381931529 | MYO7A | c.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 | |
11 | g.77156034C>A | CA381931531 | MYO7A | c.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 | |
11 | g.77156034C>G | CA381931532 | MYO7A | c.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 | |
11 | g.77156034C>T | CA381931534 | MYO7A | c.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 |
11 | g.77156035T>A | CA475792515 | MYO7A | c.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 | |
11 | g.77156035T>C | CA475792516 | MYO7A | c.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 |
11 | g.77156035T>G | CA475792517 | MYO7A | c.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 |
11 | g.77156036G>A | CA6197122 | MYO7A | c.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 |
11 | g.77156036G>C | CA381931537 | MYO7A | c.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 | |
11 | g.77156036G= | CA1984094104 | MYO7A | c.415G= (p.Asp139=) c.382G= (p.Asp128=) c.157G= (p.Asp53=) n.735G= n.737G= c.505G= (p.Asp169=) n.520G= | |
11 | g.77156036G>T | CA381931539 | MYO7A | c.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 | |
11 | g.77156037A= | CA1984094106 | MYO7A | c.416A= (p.Asp139=) c.383A= (p.Asp128=) c.158A= (p.Asp53=) n.736A= n.738A= c.506A= (p.Asp169=) n.521A= | |
11 | g.77156037A>C | CA381931544 | MYO7A | c.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 | |
11 | g.77156037A>G | CA381931543 | MYO7A | c.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 |
11 | g.77156037A>T | CA381931542 | MYO7A | c.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 | |
11 | g.77156038C>A | CA381931550 | MYO7A | c.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 | |
11 | g.77156038C>G | CA381931551 | MYO7A | c.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 | |
11 | g.77156038C>T | CA475792518 | MYO7A | c.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 | |
11 | g.77156039A>C | CA381931553 | MYO7A | c.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 | |
11 | g.77156039A>G | CA381931555 | MYO7A | c.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 | |
11 | g.77156039A>T | CA381931557 | MYO7A | c.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 | |
11 | g.77156040del | CA2508789899 | MYO7A | c.419del (p.Asn140ThrfsTer6) c.386del (p.Asn129ThrfsTer6) c.161del (p.Asn54ThrfsTer6) n.739del n.741del c.509del (p.Asn170ThrfsTer6) n.524del | |
11 | g.77156040A= | CA1984094108 | MYO7A | c.419A= (p.Asn140=) c.386A= (p.Asn129=) c.161A= (p.Asn54=) n.739A= n.741A= c.509A= (p.Asn170=) n.524A= | |
11 | g.77156040A>C | CA381931559 | MYO7A | c.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 | |
11 | g.77156040A>G | CA381931561 | MYO7A | c.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 |
11 | g.77156040A>T | CA381931562 | MYO7A | c.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 | |
11 | g.77156041C>A | CA381931565 | MYO7A | c.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 | |
11 | g.77156041C>G | CA381931566 | MYO7A | c.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 | |
11 | g.77156041C>T | CA475792519 | MYO7A | c.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 | |
11 | g.77156042T>A | CA381931568 | MYO7A | c.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 | |
11 | g.77156042T>C | CA381931570 | MYO7A | c.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 | |
11 | g.77156042T>G | CA381931572 | MYO7A | c.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 | |
11 | g.77156043G>A | CA381931575 | MYO7A | c.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 | |
11 | g.77156043G>C | CA381931576 | MYO7A | c.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 | |
11 | g.77156043G>T | CA381931573 | MYO7A | c.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 | |
11 | g.77156044C>A | CA381931580 | MYO7A | c.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 | |
11 | g.77156044C>G | CA381931578 | MYO7A | c.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 | |
11 | g.77156044C>T | CA475792520 | MYO7A | c.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 | |
11 | g.77156045T>A | CA381931585 | MYO7A | c.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 | |
11 | g.77156045T>C | CA381931582 | MYO7A | c.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 |
11 | g.77156045T>G | CA381931583 | MYO7A | c.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 | |
11 | g.77156046A= | CA1984094112 | MYO7A | c.425A= (p.Tyr142=) c.392A= (p.Tyr131=) c.167A= (p.Tyr56=) n.745A= n.747A= c.515A= (p.Tyr172=) n.530A= | |
11 | g.77156046A>C | CA381931587 | MYO7A | c.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 | |
11 | g.77156046A>G | CA6197123 | MYO7A | c.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 |
11 | g.77156046A>T | CA381931590 | MYO7A | c.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 | |
11 | g.77156047C>A | CA381931592 | MYO7A | c.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 |
11 | g.77156047C>G | CA381931594 | MYO7A | c.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 | |
11 | g.77156047C>T | CA475792521 | MYO7A | c.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 | |
11 | g.77156048T>A | CA381931597 | MYO7A | c.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 | |
11 | g.77156048T>C | CA381931598 | MYO7A | c.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 |
11 | g.77156048T>G | CA381931600 | MYO7A | c.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 | |
11 | g.77156048T= | CA1984094118 | MYO7A | c.427T= (p.Phe143=) c.394T= (p.Phe132=) c.169T= (p.Phe57=) n.747T= n.749T= c.517T= (p.Phe173=) n.532T= | |
11 | g.77156049T>A | CA381931602 | MYO7A | c.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 | |
11 | g.77156049T>C | CA381931604 | MYO7A | c.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 | |
11 | g.77156049T>G | CA6197124 | MYO7A | c.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 |
11 | g.77156049T= | CA1984094121 | MYO7A | c.428T= (p.Phe143=) c.395T= (p.Phe132=) c.170T= (p.Phe57=) n.748T= n.750T= c.518T= (p.Phe173=) n.533T= | |
11 | g.77156050C>A | CA381931607 | MYO7A | c.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 | |
11 | g.77156050C>G | CA381931609 | MYO7A | c.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 | |
11 | g.77156050C>T | CA475792522 | MYO7A | c.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 | |
11 | g.77156051A= | CA1984094122 | MYO7A | c.430A= (p.Asn144=) c.397A= (p.Asn133=) c.172A= (p.Asn58=) n.750A= n.752A= c.520A= (p.Asn174=) n.535A= | |
11 | g.77156051A>C | CA381931611 | MYO7A | c.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 | |
11 | g.77156051A>G | CA6197125 | MYO7A | c.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 |
11 | g.77156051A>T | CA381931614 | MYO7A | c.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 |
11 | g.77156052A= | CA1984094126 | MYO7A | c.431A= (p.Asn144=) c.398A= (p.Asn133=) c.173A= (p.Asn58=) n.751A= n.753A= c.521A= (p.Asn174=) n.536A= | |
11 | g.77156052A>C | CA381931616 | MYO7A | c.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 | |
11 | g.77156052A>G | CA6197126 | MYO7A | c.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 |
11 | g.77156052A>T | CA381931619 | MYO7A | c.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 | |
11 | g.77156053C>A | CA381931621 | MYO7A | c.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 | |
11 | g.77156053C>G | CA381931623 | MYO7A | c.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 | |
11 | g.77156053C>T | CA475792523 | MYO7A | c.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 | |
11 | g.77156054A>C | CA381931626 | MYO7A | c.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 | |
11 | g.77156054A>G | CA381931628 | MYO7A | c.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 |
11 | g.77156054A>T | CA381931629 | MYO7A | c.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 | |
11 | g.77156055T>A | CA381931635 | MYO7A | c.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 | |
11 | g.77156055T>C | CA381931633 | MYO7A | c.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 | |
11 | g.77156055T>G | CA6197127 | MYO7A | c.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 |
11 | g.77156055T= | CA1984094130 | MYO7A | c.434T= (p.Met145=) c.401T= (p.Met134=) c.176T= (p.Met59=) n.754T= n.756T= c.524T= (p.Met175=) n.539T= | |
11 | g.77156056G>A | CA381931637 | MYO7A | c.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 | |
11 | g.77156056G>C | CA381931638 | MYO7A | c.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 | |
11 | g.77156056G>T | CA381931639 | MYO7A | c.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 | |
11 | g.77156057A>C | CA381931640 | MYO7A | c.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 | |
11 | g.77156057A>G | CA381931641 | MYO7A | c.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 | |
11 | g.77156057A>T | CA381931642 | MYO7A | c.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 | |
11 | g.77156058A>C | CA381931645 | MYO7A | c.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 |
11 | g.77156058A>G | CA381931643 | MYO7A | c.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 | |
11 | g.77156058A>T | CA381931644 | MYO7A | c.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 | |
11 | g.77156059A>C | CA381931646 | MYO7A | c.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 | |
11 | g.77156059A>G | CA475792524 | MYO7A | c.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 |
11 | g.77156059A>T | CA381931647 | MYO7A | c.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 | |
11 | g.77156060C>A | CA381931648 | MYO7A | c.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 | |
11 | g.77156060C= | CA1984094148 | MYO7A | c.439C= (p.Arg147=) c.406C= (p.Arg136=) c.181C= (p.Arg61=) n.759C= n.761C= c.529C= (p.Arg177=) n.544C= | |
11 | g.77156060C>G | CA381931649 | MYO7A | c.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 | |
11 | g.77156060C>T | CA6197128 | MYO7A | c.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 |
11 | g.77156061G>A | CA132322 | MYO7A | c.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 |
11 | g.77156061G>C | CA381931651 | MYO7A | c.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 | |
11 | g.77156061G= | CA1984094163 | MYO7A | c.440G= (p.Arg147=) c.407G= (p.Arg136=) c.182G= (p.Arg61=) n.760G= n.762G= c.530G= (p.Arg177=) n.545G= | |
11 | g.77156061G>T | CA381931650 | MYO7A | c.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 |
11 | g.77156062C>A | CA475792526 | MYO7A | c.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 | |
11 | g.77156062C>G | CA475792527 | MYO7A | c.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 | |
11 | g.77156062C>T | CA475792528 | MYO7A | c.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 | |
11 | g.77156063A>C | CA381931652 | MYO7A | c.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 | |
11 | g.77156063A>G | CA381931653 | MYO7A | c.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 |
11 | g.77156063A>T | CA381931654 | MYO7A | c.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 | |
11 | g.77156064A= | CA1984094171 | MYO7A | c.443A= (p.Asn148=) c.410A= (p.Asn137=) c.185A= (p.Asn62=) n.763A= n.765A= c.533A= (p.Asn178=) n.548A= | |
11 | g.77156064A>C | CA6197129 | MYO7A | c.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 |
11 | g.77156064A>G | CA6197130 | MYO7A | c.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 |
11 | g.77156064A>T | CA381931655 | MYO7A | c.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 | |
11 | g.77156065C>A | CA381931656 | MYO7A | c.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 |
11 | g.77156065C= | CA1984094180 | MYO7A | c.444C= (p.Asn148=) c.411C= (p.Asn137=) c.186C= (p.Asn62=) n.764C= n.766C= c.534C= (p.Asn178=) n.549C= | |
11 | g.77156065C>G | CA381931658 | MYO7A | c.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 | |
11 | g.77156065C>T | CA475792530 | MYO7A | c.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 |
11 | g.77156066A>C | CA381931659 | MYO7A | c.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 | |
11 | g.77156066A>G | CA381931660 | MYO7A | c.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 |
11 | g.77156066A>T | CA381931661 | MYO7A | c.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 | |
11 | g.77156067G>A | CA381931663 | MYO7A | c.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 | |
11 | g.77156067G>C | CA381931664 | MYO7A | c.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 | |
11 | g.77156067G>T | CA381931662 | MYO7A | c.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 | |
11 | g.77156068C>A | CA381931666 | MYO7A | c.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 |
11 | g.77156068C>G | CA381931665 | MYO7A | c.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 |
11 | g.77156068C>T | CA475792532 | MYO7A | c.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 | |
11 | g.77156069C>A | CA182403 | MYO7A | c.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 |
11 | g.77156069C= | CA1984094203 | MYO7A | c.448C= (p.Arg150=) c.415C= (p.Arg139=) c.190C= (p.Arg64=) n.768C= n.770C= c.538C= (p.Arg180=) n.553C= | |
11 | g.77156069C>G | CA381931667 | MYO7A | c.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 | |
11 | g.77156069C>T | CA277957 | MYO7A | c.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 |
11 | g.77156070G>A | CA132330 | MYO7A | c.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 |
11 | g.77156070G>C | CA381931668 | MYO7A | c.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 | |
11 | g.77156070G= | CA1984094214 | MYO7A | c.449G= (p.Arg150=) c.416G= (p.Arg139=) c.191G= (p.Arg64=) n.769G= n.771G= c.539G= (p.Arg180=) n.554G= | |
11 | g.77156070G>T | CA381931669 | MYO7A | c.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 | |
11 | g.77156071A>C | CA475792535 | MYO7A | c.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 | |
11 | g.77156071A>G | CA475792538 | MYO7A | c.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 | |
11 | g.77156071A>T | CA475792536 | MYO7A | c.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 | |
11 | g.77156072G>A | CA381931670 | MYO7A | c.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 | |
11 | g.77156072G>C | CA381931671 | MYO7A | c.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 | |
11 | g.77156072G>T | CA381931672 | MYO7A | c.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 | |
11 | g.77156073A>C | CA381931673 | MYO7A | c.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 |
11 | g.77156073A>G | CA381931674 | MYO7A | c.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 |
11 | g.77156073A>T | CA381931675 | MYO7A | c.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 | |
11 | g.77156074C>A | CA381931677 | MYO7A | c.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 | |
11 | g.77156074C>G | CA381931676 | MYO7A | c.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 | |
11 | g.77156074C>T | CA475792585 | MYO7A | c.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 | |
11 | g.77156074_77156075insACG | CA2792785090 | MYO7A | c.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 | |
11 | g.77156075C>A | CA381931678 | MYO7A | c.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 | |
11 | g.77156075C>G | CA381931679 | MYO7A | c.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 | |
11 | g.77156075C>T | CA381931680 | MYO7A | c.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 | |
11 | g.77156076A>C | CA381931681 | MYO7A | c.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 | |
11 | g.77156076A>G | CA381931682 | MYO7A | c.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 | |
11 | g.77156076A>T | CA381931683 | MYO7A | c.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 | |
11 | g.77156077G>A | CA475792588 | MYO7A | c.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 | |
11 | g.77156077G>C | CA381931684 | MYO7A | c.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 | |
11 | g.77156077G>T | CA381931685 | MYO7A | c.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 | |
11 | g.77156078T>A | CA381931686 | MYO7A | c.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 | |
11 | g.77156078T>C | CA381931687 | MYO7A | c.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 | |
11 | g.77156078T>G | CA381931688 | MYO7A | c.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 | |
11 | g.77156079G>A | CA278672 | MYO7A | c.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 |
11 | g.77156079G>C | CA381931689 | MYO7A | c.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 | |
11 | g.77156079G= | CA1984094221 | MYO7A | c.458G= (p.Cys153=) c.425G= (p.Cys142=) c.200G= (p.Cys67=) n.778G= n.780G= c.548G= (p.Cys183=) n.563G= | |
11 | g.77156079G>T | CA6197131 | MYO7A | c.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 |
11 | g.77156080C>A | CA381931690 | MYO7A | c.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 | |
11 | g.77156080C= | CA1984094233 | MYO7A | c.459C= (p.Cys153=) c.426C= (p.Cys142=) c.201C= (p.Cys67=) n.779C= n.781C= c.549C= (p.Cys183=) n.564C= | |
11 | g.77156080C>G | CA381931691 | MYO7A | c.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 | |
11 | g.77156080C>T | CA475792592 | MYO7A | c.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 |
11 | g.77156081T>A | CA381931692 | MYO7A | c.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 | |
11 | g.77156081T>C | CA381931693 | MYO7A | c.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 | |
11 | g.77156081T>G | CA381931694 | MYO7A | c.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 | |
11 | g.77156082G>A | CA381931695 | MYO7A | c.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 | |
11 | g.77156082G>C | CA381931696 | MYO7A | c.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 | |
11 | g.77156082G>T | CA381931697 | MYO7A | c.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 | |
11 | g.77156083C>A | CA381931698 | MYO7A | c.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 |
11 | g.77156083C= | CA1984094246 | MYO7A | c.462C= (p.Cys154=) c.429C= (p.Cys143=) c.204C= (p.Cys68=) n.782C= n.784C= c.552C= (p.Cys184=) n.567C= | |
11 | g.77156083C>G | CA381931699 | MYO7A | c.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 | |
11 | g.77156083C>T | CA475792594 | MYO7A | c.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 | |
11 | g.77156084A= | CA1984094255 | MYO7A | c.463A= (p.Ile155=) c.430A= (p.Ile144=) c.205A= (p.Ile69=) n.783A= n.785A= c.553A= (p.Ile185=) n.568A= | |
11 | g.77156084A>C | CA381931700 | MYO7A | c.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 | |
11 | g.77156084A>G | CA381931701 | MYO7A | c.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 |
11 | g.77156084A>T | CA381931702 | MYO7A | c.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 | |
11 | g.77156085T>A | CA381931703 | MYO7A | c.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 | |
11 | g.77156085T>C | CA381931704 | MYO7A | c.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 | |
11 | g.77156085T>G | CA381931705 | MYO7A | c.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 | |
11 | g.77156086C>A | CA475792597 | MYO7A | c.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 | |
11 | g.77156086C= | CA1984094266 | MYO7A | c.465C= (p.Ile155=) c.432C= (p.Ile144=) c.207C= (p.Ile69=) n.785C= n.787C= c.555C= (p.Ile185=) n.570C= | |
11 | g.77156086C>G | CA381931706 | MYO7A | c.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 | |
11 | g.77156086C>T | CA6197132 | MYO7A | c.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 |
11 | g.77156087A>C | CA381931707 | MYO7A | c.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 | |
11 | g.77156087A>G | CA381931708 | MYO7A | c.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 | |
11 | g.77156087A>T | CA381931709 | MYO7A | c.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 | |
11 | g.77156088T>A | CA381931710 | MYO7A | c.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 | |
11 | g.77156088T>C | CA381931711 | MYO7A | c.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 |
11 | g.77156088T>G | CA381931712 | MYO7A | c.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 |
11 | g.77156089C>A | CA475792598 | MYO7A | c.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 | |
11 | g.77156089C= | CA1984094278 | MYO7A | c.468C= (p.Ile156=) c.435C= (p.Ile145=) c.210C= (p.Ile70=) n.788C= n.790C= c.558C= (p.Ile186=) n.573C= | |
11 | g.77156089C>G | CA381931713 | MYO7A | c.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 |
11 | g.77156089C>T | CA132341 | MYO7A | c.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 |
11 | g.77156090A>C | CA381931714 | MYO7A | c.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 |
11 | g.77156090A>G | CA381931715 | MYO7A | c.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 | |
11 | g.77156090A>T | CA381931716 | MYO7A | c.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 | |
11 | g.77156091G>A | CA381931717 | MYO7A | c.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 |
11 | g.77156091G>C | CA381931718 | MYO7A | c.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 | |
11 | g.77156091G>T | CA381931719 | MYO7A | c.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 |
11 | g.77156092G>A | CA278726 | MYO7A | c.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 |
11 | g.77156092G>C | CA381931721 | MYO7A | c.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 | |
11 | g.77156092G= | CA1984094292 | MYO7A | c.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= | |
11 | g.77156092G>T | CA381931720 | MYO7A | c.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 | |
11 | g.77156093T>A | CA381931723 | MYO7A | c.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 | |
11 | g.77156093T>C | CA381931722 | MYO7A | c.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 | |
11 | g.77156093T>G | CA381931724 | MYO7A | c.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 | |
11 | g.77156094G>A | CA1139771173 | MYO7A | c.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 | |
11 | g.77156094G>T | CA2615251089 | MYO7A | c.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 |
11 | g.77156095G>A | CA6197133 | MYO7A | c.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 |
11 | g.77156095G>C | CA6197134 | MYO7A | c.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 |
11 | g.77156095G= | CA1984094300 | MYO7A | c.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= | |
11 | g.77156096G>A | CA6197135 | MYO7A | c.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 |
11 | g.77156096G= | CA1984094303 | MYO7A | c.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= | |
11 | g.77156097C>A | CA6197137 | MYO7A | c.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 |
11 | g.77156097C= | CA1984094306 | MYO7A | c.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= | |
11 | g.77156097C>G | CA2615251090 | MYO7A | c.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 |
11 | g.77156097C>T | CA6197136 | MYO7A | c.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 |
11 | g.77156098G>A | CA6197138 | MYO7A | c.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 |
11 | g.77156098G= | CA1984094319 | MYO7A | c.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= | |
11 | g.77156099G>C | CA2615251093 | MYO7A | c.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 |
11 | g.77156100C>A | CA2615251094 | MYO7A | c.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 |
11 | g.77156101C>T | CA2615251095 | MYO7A | c.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 |
11 | g.77156102C>A | CA2574930664 | MYO7A | c.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 | |
11 | g.77156102C>T | CA2739265959 | MYO7A | c.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 |
11 | g.77156103A= | CA1984094328 | MYO7A | c.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= | |
11 | g.77156103A>T | CA6197139 | MYO7A | c.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 |
11 | g.77156104G>A | CA1984094334 | MYO7A | c.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 |
11 | g.77156104G= | CA1984094331 | MYO7A | c.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= | |
11 | g.77156106_77156125del | CA2615251097 | MYO7A | c.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 |
11 | g.77156105C>A | CA1984094342 | MYO7A | c.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 |
11 | g.77156105C= | CA1984094341 | MYO7A | c.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= | |
11 | g.77156105C>G | CA224826506 | MYO7A | c.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 |
11 | g.77156106A= | CA1984094347 | MYO7A | c.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= | |
11 | g.77156106A>C | CA600343188 | MYO7A | c.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 |
11 | g.77156106A>G | CA6197140 | MYO7A | c.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 |
11 | g.77156107C= | CA1984094354 | MYO7A | c.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= | |
11 | g.77156107C>T | CA600343189 | MYO7A | c.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 |
11 | g.77156109T>G | CA2739265960 | MYO7A | c.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 |
11 | g.77156110G>T | CA2574930665 | MYO7A | c.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 |
11 | g.77156111T>C | CA2615251104 | MYO7A | c.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 |
11 | g.77156111T>G | CA2615251105 | MYO7A | c.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 |
11 | g.77156113T>A | CA2615251106 | MYO7A | c.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 |
11 | g.77156114G>A | CA6197141 | MYO7A | c.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 |
11 | g.77156114G= | CA1984094361 | MYO7A | c.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= | |
11 | g.77156116A= | CA1984094364 | MYO7A | c.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= | |
11 | g.77156116A>G | CA6197142 | MYO7A | c.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 |
11 | g.77156117G>C | CA1984094370 | MYO7A | c.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 |
11 | g.77156117G= | CA1984094368 | MYO7A | c.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= | |
11 | g.77156117G>T | CA2615251110 | MYO7A | c.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 |