Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
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 |