Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17553385A>C | CA473516741 | OTOG | c.442A>C (p.Arg148=) c.406A>C (p.Arg136=) c.223A>C (p.Arg75=) n.312A>C | |
11 | g.17553385A>G | CA379811128 | OTOG | c.442A>G (p.Arg148Gly) c.406A>G (p.Arg136Gly) c.223A>G (p.Arg75Gly) n.312A>G | gnomAD v4 |
11 | g.17553385A>T | CA379811132 | OTOG | c.442A>T (p.Arg148Trp) c.406A>T (p.Arg136Trp) c.223A>T (p.Arg75Trp) n.312A>T | |
11 | g.17553386G>A | CA379811135 | OTOG | c.443G>A (p.Arg148Lys) c.407G>A (p.Arg136Lys) c.224G>A (p.Arg75Lys) n.313G>A | gnomAD v4 |
11 | g.17553386G>C | CA379811138 | OTOG | c.443G>C (p.Arg148Thr) c.407G>C (p.Arg136Thr) c.224G>C (p.Arg75Thr) n.313G>C | |
11 | g.17553386G>T | CA379811141 | OTOG | c.443G>T (p.Arg148Met) c.407G>T (p.Arg136Met) c.224G>T (p.Arg75Met) n.313G>T | gnomAD v4 |
11 | g.17553387G>A | CA473516742 | OTOG | c.444G>A (p.Arg148=) c.408G>A (p.Arg136=) c.225G>A (p.Arg75=) n.314G>A | gnomAD v4 |
11 | g.17553387G>C | CA379811150 | OTOG | c.444G>C (p.Arg148Ser) c.408G>C (p.Arg136Ser) c.225G>C (p.Arg75Ser) n.314G>C | |
11 | g.17553387G>T | CA379811154 | OTOG | c.444G>T (p.Arg148Ser) c.408G>T (p.Arg136Ser) c.225G>T (p.Arg75Ser) n.314G>T | COSMIC COSMIC |
11 | g.17553388G>A | CA218490106 | OTOG | c.445G>A (p.Asp149Asn) c.409G>A (p.Asp137Asn) c.226G>A (p.Asp76Asn) n.315G>A | dbSNP |
11 | g.17553388G>C | CA379811159 | OTOG | c.445G>C (p.Asp149His) c.409G>C (p.Asp137His) c.226G>C (p.Asp76His) n.315G>C | gnomAD v4 |
11 | g.17553388G= | CA1955197747 | OTOG | c.445G= (p.Asp149=) c.409G= (p.Asp137=) c.226G= (p.Asp76=) n.315G= | |
11 | g.17553388G>T | CA379811157 | OTOG | c.445G>T (p.Asp149Tyr) c.409G>T (p.Asp137Tyr) c.226G>T (p.Asp76Tyr) n.315G>T | gnomAD v4 |
11 | g.17553389A= | CA1955197748 | OTOG | c.446A= (p.Asp149=) c.410A= (p.Asp137=) c.227A= (p.Asp76=) n.316A= | |
11 | g.17553389A>C | CA379811164 | OTOG | c.446A>C (p.Asp149Ala) c.410A>C (p.Asp137Ala) c.227A>C (p.Asp76Ala) n.316A>C | gnomAD v4 |
11 | g.17553389A>G | CA218490108 | OTOG | c.446A>G (p.Asp149Gly) c.410A>G (p.Asp137Gly) c.227A>G (p.Asp76Gly) n.316A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553389A>T | CA379811166 | OTOG | c.446A>T (p.Asp149Val) c.410A>T (p.Asp137Val) c.227A>T (p.Asp76Val) n.316A>T | |
11 | g.17553390C>A | CA379811171 | OTOG | c.447C>A (p.Asp149Glu) c.411C>A (p.Asp137Glu) c.228C>A (p.Asp76Glu) n.317C>A | gnomAD v4 |
11 | g.17553390C= | CA1955197749 | OTOG | c.447C= (p.Asp149=) c.411C= (p.Asp137=) c.228C= (p.Asp76=) n.317C= | |
11 | g.17553390C>G | CA379811176 | OTOG | c.447C>G (p.Asp149Glu) c.411C>G (p.Asp137Glu) c.228C>G (p.Asp76Glu) n.317C>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553390C>T | CA473516743 | OTOG | c.447C>T (p.Asp149=) c.411C>T (p.Asp137=) c.228C>T (p.Asp76=) n.317C>T | dbSNP gnomAD v4 |
11 | g.17553391A>C | CA379811180 | OTOG | c.448A>C (p.Ser150Arg) c.412A>C (p.Ser138Arg) c.229A>C (p.Ser77Arg) n.318A>C | |
11 | g.17553391A>G | CA379811188 | OTOG | c.448A>G (p.Ser150Gly) c.412A>G (p.Ser138Gly) c.229A>G (p.Ser77Gly) n.318A>G | gnomAD v4 |
11 | g.17553391A>T | CA379811183 | OTOG | c.448A>T (p.Ser150Cys) c.412A>T (p.Ser138Cys) c.229A>T (p.Ser77Cys) n.318A>T | gnomAD v4 |
11 | g.17553392G>A | CA379811191 | OTOG | c.449G>A (p.Ser150Asn) c.413G>A (p.Ser138Asn) c.230G>A (p.Ser77Asn) n.319G>A | dbSNP gnomAD v4 |
11 | g.17553392G>C | CA379811195 | OTOG | c.449G>C (p.Ser150Thr) c.413G>C (p.Ser138Thr) c.230G>C (p.Ser77Thr) n.319G>C | |
11 | g.17553392G= | CA1955197750 | OTOG | c.449G= (p.Ser150=) c.413G= (p.Ser138=) c.230G= (p.Ser77=) n.319G= | |
11 | g.17553392G>T | CA379811198 | OTOG | c.449G>T (p.Ser150Ile) c.413G>T (p.Ser138Ile) c.230G>T (p.Ser77Ile) n.319G>T | gnomAD v4 |
11 | g.17553393C>A | CA379811202 | OTOG | c.450C>A (p.Ser150Arg) c.414C>A (p.Ser138Arg) c.231C>A (p.Ser77Arg) n.320C>A | gnomAD v4 |
11 | g.17553393C>G | CA379811209 | OTOG | c.450C>G (p.Ser150Arg) c.414C>G (p.Ser138Arg) c.231C>G (p.Ser77Arg) n.320C>G | |
11 | g.17553393C>T | CA473516744 | OTOG | c.450C>T (p.Ser150=) c.414C>T (p.Ser138=) c.231C>T (p.Ser77=) n.320C>T | gnomAD v4 |
11 | g.17553394A= | CA1955197751 | OTOG | c.451A= (p.Ile151=) c.415A= (p.Ile139=) c.232A= (p.Ile78=) n.321A= | |
11 | g.17553394A>C | CA379811215 | OTOG | c.451A>C (p.Ile151Leu) c.415A>C (p.Ile139Leu) c.232A>C (p.Ile78Leu) n.321A>C | dbSNP gnomAD v4 |
11 | g.17553394A>G | CA379811218 | OTOG | c.451A>G (p.Ile151Val) c.415A>G (p.Ile139Val) c.232A>G (p.Ile78Val) n.321A>G | |
11 | g.17553394A>T | CA379811221 | OTOG | c.451A>T (p.Ile151Phe) c.415A>T (p.Ile139Phe) c.232A>T (p.Ile78Phe) n.321A>T | |
11 | g.17553395T>A | CA379811227 | OTOG | c.452T>A (p.Ile151Asn) c.416T>A (p.Ile139Asn) c.233T>A (p.Ile78Asn) n.322T>A | |
11 | g.17553395T>C | CA379811230 | OTOG | c.452T>C (p.Ile151Thr) c.416T>C (p.Ile139Thr) c.233T>C (p.Ile78Thr) n.322T>C | |
11 | g.17553395T>G | CA379811234 | OTOG | c.452T>G (p.Ile151Ser) c.416T>G (p.Ile139Ser) c.233T>G (p.Ile78Ser) n.322T>G | |
11 | g.17553396T>A | CA473516745 | OTOG | c.453T>A (p.Ile151=) c.417T>A (p.Ile139=) c.234T>A (p.Ile78=) n.323T>A | |
11 | g.17553396T>C | CA473516746 | OTOG | c.453T>C (p.Ile151=) c.417T>C (p.Ile139=) c.234T>C (p.Ile78=) n.323T>C | |
11 | g.17553396T>G | CA379811244 | OTOG | c.453T>G (p.Ile151Met) c.417T>G (p.Ile139Met) c.234T>G (p.Ile78Met) n.323T>G | |
11 | g.17553397T>A | CA379811255 | OTOG | c.454T>A (p.Cys152Ser) c.418T>A (p.Cys140Ser) c.235T>A (p.Cys79Ser) n.324T>A | |
11 | g.17553397T>C | CA379811252 | OTOG | c.454T>C (p.Cys152Arg) c.418T>C (p.Cys140Arg) c.235T>C (p.Cys79Arg) n.324T>C | |
11 | g.17553397T>G | CA379811249 | OTOG | c.454T>G (p.Cys152Gly) c.418T>G (p.Cys140Gly) c.235T>G (p.Cys79Gly) n.324T>G | |
11 | g.17553398G>A | CA379811259 | OTOG | c.455G>A (p.Cys152Tyr) c.419G>A (p.Cys140Tyr) c.236G>A (p.Cys79Tyr) n.325G>A | gnomAD v4 |
11 | g.17553398G>C | CA379811261 | OTOG | c.455G>C (p.Cys152Ser) c.419G>C (p.Cys140Ser) c.236G>C (p.Cys79Ser) n.325G>C | gnomAD v4 |
11 | g.17553398G>T | CA379811265 | OTOG | c.455G>T (p.Cys152Phe) c.419G>T (p.Cys140Phe) c.236G>T (p.Cys79Phe) n.325G>T | gnomAD v4 |
11 | g.17553399C>A | CA379811267 | OTOG | c.456C>A (p.Cys152Ter) c.420C>A (p.Cys140Ter) c.237C>A (p.Cys79Ter) n.326C>A | gnomAD v4 |
11 | g.17553399C= | CA1955197752 | OTOG | c.456C= (p.Cys152=) c.420C= (p.Cys140=) c.237C= (p.Cys79=) n.326C= | |
11 | g.17553399C>G | CA379811271 | OTOG | c.456C>G (p.Cys152Trp) c.420C>G (p.Cys140Trp) c.237C>G (p.Cys79Trp) n.326C>G | |
11 | g.17553399C>T | CA473516747 | OTOG | c.456C>T (p.Cys152=) c.420C>T (p.Cys140=) c.237C>T (p.Cys79=) n.326C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553400C>A | CA473516748 | OTOG | c.457C>A (p.Arg153=) c.421C>A (p.Arg141=) c.238C>A (p.Arg80=) n.327C>A | gnomAD v4 |
11 | g.17553400C= | CA1955197753 | OTOG | c.457C= (p.Arg153=) c.421C= (p.Arg141=) c.238C= (p.Arg80=) n.327C= | |
11 | g.17553400C>G | CA379811274 | OTOG | c.457C>G (p.Arg153Gly) c.421C>G (p.Arg141Gly) c.238C>G (p.Arg80Gly) n.327C>G | gnomAD v4 |
11 | g.17553400C>T | CA5905356 | OTOG | c.457C>T (p.Arg153Trp) c.421C>T (p.Arg141Trp) c.238C>T (p.Arg80Trp) n.327C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553402_17553405dup | CA2612679533 | OTOG | c.459_462dup (p.Trp155GlyfsTer11) c.423_426dup (p.Trp143GlyfsTer11) c.240_243dup (p.Trp82GlyfsTer11) n.329_332dup | gnomAD v4 |
11 | g.17553401G>A | CA379811278 | OTOG | c.458G>A (p.Arg153Gln) c.422G>A (p.Arg141Gln) c.239G>A (p.Arg80Gln) n.328G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553401G>C | CA379811284 | OTOG | c.458G>C (p.Arg153Pro) c.422G>C (p.Arg141Pro) c.239G>C (p.Arg80Pro) n.328G>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553401G= | CA1955197754 | OTOG | c.458G= (p.Arg153=) c.422G= (p.Arg141=) c.239G= (p.Arg80=) n.328G= | |
11 | g.17553401G>T | CA379811289 | OTOG | c.458G>T (p.Arg153Leu) c.422G>T (p.Arg141Leu) c.239G>T (p.Arg80Leu) n.328G>T | gnomAD v4 |
11 | g.17553402G>A | CA473516751 | OTOG | c.459G>A (p.Arg153=) c.423G>A (p.Arg141=) c.240G>A (p.Arg80=) n.329G>A | gnomAD v4 |
11 | g.17553402G>C | CA473516750 | OTOG | c.459G>C (p.Arg153=) c.423G>C (p.Arg141=) c.240G>C (p.Arg80=) n.329G>C | |
11 | g.17553402G>T | CA473516749 | OTOG | c.459G>T (p.Arg153=) c.423G>T (p.Arg141=) c.240G>T (p.Arg80=) n.329G>T | |
11 | g.17553403G>A | CA379811293 | OTOG | c.460G>A (p.Ala154Thr) c.424G>A (p.Ala142Thr) c.241G>A (p.Ala81Thr) n.330G>A | |
11 | g.17553403G>C | CA379811295 | OTOG | c.460G>C (p.Ala154Pro) c.424G>C (p.Ala142Pro) c.241G>C (p.Ala81Pro) n.330G>C | |
11 | g.17553403G>T | CA379811297 | OTOG | c.460G>T (p.Ala154Ser) c.424G>T (p.Ala142Ser) c.241G>T (p.Ala81Ser) n.330G>T | |
11 | g.17553404C>A | CA379811304 | OTOG | c.461C>A (p.Ala154Glu) c.425C>A (p.Ala142Glu) c.242C>A (p.Ala81Glu) n.331C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553404C= | CA1955197755 | OTOG | c.461C= (p.Ala154=) c.425C= (p.Ala142=) c.242C= (p.Ala81=) n.331C= | |
11 | g.17553404C>G | CA379811307 | OTOG | c.461C>G (p.Ala154Gly) c.425C>G (p.Ala142Gly) c.242C>G (p.Ala81Gly) n.331C>G | gnomAD v4 |
11 | g.17553404C>T | CA218490112 | OTOG | c.461C>T (p.Ala154Val) c.425C>T (p.Ala142Val) c.242C>T (p.Ala81Val) n.331C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553405G>A | CA5905357 | OTOG | c.462G>A (p.Ala154=) c.426G>A (p.Ala142=) c.243G>A (p.Ala81=) n.332G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553405G>C | CA473516752 | OTOG | c.462G>C (p.Ala154=) c.426G>C (p.Ala142=) c.243G>C (p.Ala81=) n.332G>C | |
11 | g.17553405G= | CA1955197756 | OTOG | c.462G= (p.Ala154=) c.426G= (p.Ala142=) c.243G= (p.Ala81=) n.332G= | |
11 | g.17553405G>T | CA5905358 | OTOG | c.462G>T (p.Ala154=) c.426G>T (p.Ala142=) c.243G>T (p.Ala81=) n.332G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553406T>A | CA379811313 | OTOG | c.463T>A (p.Trp155Arg) c.427T>A (p.Trp143Arg) c.244T>A (p.Trp82Arg) n.333T>A | |
11 | g.17553406T>C | CA379811315 | OTOG | c.463T>C (p.Trp155Arg) c.427T>C (p.Trp143Arg) c.244T>C (p.Trp82Arg) n.333T>C | |
11 | g.17553406T>G | CA379811318 | OTOG | c.463T>G (p.Trp155Gly) c.427T>G (p.Trp143Gly) c.244T>G (p.Trp82Gly) n.333T>G | |
11 | g.17553406_17553407delinsTG | CA1955197757 | OTOG | c.463_464delinsTG (p.Trp155=) c.427_428delinsTG (p.Trp143=) c.244_245delinsTG (p.Trp82=) n.333_334delinsTG | |
11 | g.17553407G>A | CA379811322 | OTOG | c.464G>A (p.Trp155Ter) c.428G>A (p.Trp143Ter) c.245G>A (p.Trp82Ter) n.334G>A | gnomAD v4 |
11 | g.17553407G>C | CA379811325 | OTOG | c.464G>C (p.Trp155Ser) c.428G>C (p.Trp143Ser) c.245G>C (p.Trp82Ser) n.334G>C | |
11 | g.17553407G>T | CA379811326 | OTOG | c.464G>T (p.Trp155Leu) c.428G>T (p.Trp143Leu) c.245G>T (p.Trp82Leu) n.334G>T | gnomAD v4 |
11 | g.17553411dup | CA2612679566 | OTOG | c.468dup (p.Gln157AlafsTer8) c.432dup (p.Gln145AlafsTer8) c.249dup (p.Gln84AlafsTer8) n.338dup | gnomAD v4 |
11 | g.17553411del | CA597904650 | OTOG | c.468del (p.Gln157SerfsTer?) c.432del (p.Gln145SerfsTer?) c.249del (p.Gln84SerfsTer?) n.338del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553408G>A | CA379811327 | OTOG | c.465G>A (p.Trp155Ter) c.429G>A (p.Trp143Ter) c.246G>A (p.Trp82Ter) n.335G>A | |
11 | g.17553408G>C | CA379811328 | OTOG | c.465G>C (p.Trp155Cys) c.429G>C (p.Trp143Cys) c.246G>C (p.Trp82Cys) n.335G>C | |
11 | g.17553408G>T | CA379811330 | OTOG | c.465G>T (p.Trp155Cys) c.429G>T (p.Trp143Cys) c.246G>T (p.Trp82Cys) n.335G>T | gnomAD v4 |
11 | g.17553409G>A | CA379811339 | OTOG | c.466G>A (p.Gly156Arg) c.430G>A (p.Gly144Arg) c.247G>A (p.Gly83Arg) n.336G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553409G>C | CA379811333 | OTOG | c.466G>C (p.Gly156Arg) c.430G>C (p.Gly144Arg) c.247G>C (p.Gly83Arg) n.336G>C | |
11 | g.17553409G= | CA1955197758 | OTOG | c.466G= (p.Gly156=) c.430G= (p.Gly144=) c.247G= (p.Gly83=) n.336G= | |
11 | g.17553409G>T | CA379811336 | OTOG | c.466G>T (p.Gly156Trp) c.430G>T (p.Gly144Trp) c.247G>T (p.Gly83Trp) n.336G>T | |
11 | g.17553410G>A | CA379811343 | OTOG | c.467G>A (p.Gly156Glu) c.431G>A (p.Gly144Glu) c.248G>A (p.Gly83Glu) n.337G>A | |
11 | g.17553410G>C | CA379811344 | OTOG | c.467G>C (p.Gly156Ala) c.431G>C (p.Gly144Ala) c.248G>C (p.Gly83Ala) n.337G>C | |
11 | g.17553410G>T | CA379811347 | OTOG | c.467G>T (p.Gly156Val) c.431G>T (p.Gly144Val) c.248G>T (p.Gly83Val) n.337G>T | gnomAD v4 |
11 | g.17553411G>A | CA473516753 | OTOG | c.468G>A (p.Gly156=) c.432G>A (p.Gly144=) c.249G>A (p.Gly83=) n.338G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553411G>C | CA473516754 | OTOG | c.468G>C (p.Gly156=) c.432G>C (p.Gly144=) c.249G>C (p.Gly83=) n.338G>C | |
11 | g.17553411G= | CA1955197759 | OTOG | c.468G= (p.Gly156=) c.432G= (p.Gly144=) c.249G= (p.Gly83=) n.338G= | |
11 | g.17553411G>T | CA473516755 | OTOG | c.468G>T (p.Gly156=) c.432G>T (p.Gly144=) c.249G>T (p.Gly83=) n.338G>T | gnomAD v4 |
11 | g.17553412C>A | CA379811350 | OTOG | c.469C>A (p.Gln157Lys) c.433C>A (p.Gln145Lys) c.250C>A (p.Gln84Lys) n.339C>A | dbSNP gnomAD v4 |
11 | g.17553412C= | CA1955197760 | OTOG | c.469C= (p.Gln157=) c.433C= (p.Gln145=) c.250C= (p.Gln84=) n.339C= | |
11 | g.17553412C>G | CA379811352 | OTOG | c.469C>G (p.Gln157Glu) c.433C>G (p.Gln145Glu) c.250C>G (p.Gln84Glu) n.339C>G | |
11 | g.17553412C>T | CA379811354 | OTOG | c.469C>T (p.Gln157Ter) c.433C>T (p.Gln145Ter) c.250C>T (p.Gln84Ter) n.339C>T | gnomAD v4 |
11 | g.17553413A>C | CA379811357 | OTOG | c.470A>C (p.Gln157Pro) c.434A>C (p.Gln145Pro) c.251A>C (p.Gln84Pro) n.340A>C | |
11 | g.17553413A>G | CA379811360 | OTOG | c.470A>G (p.Gln157Arg) c.434A>G (p.Gln145Arg) c.251A>G (p.Gln84Arg) n.340A>G | gnomAD v4 |
11 | g.17553413A>T | CA379811363 | OTOG | c.470A>T (p.Gln157Leu) c.434A>T (p.Gln145Leu) c.251A>T (p.Gln84Leu) n.340A>T | |
11 | g.17553414G>A | CA473516756 | OTOG | c.471G>A (p.Gln157=) c.435G>A (p.Gln145=) c.252G>A (p.Gln84=) n.341G>A | gnomAD v4 |
11 | g.17553414G>C | CA379811365 | OTOG | c.471G>C (p.Gln157His) c.435G>C (p.Gln145His) c.252G>C (p.Gln84His) n.341G>C | |
11 | g.17553414G>T | CA379811368 | OTOG | c.471G>T (p.Gln157His) c.435G>T (p.Gln145His) c.252G>T (p.Gln84His) n.341G>T | |
11 | g.17553415C>A | CA379811374 | OTOG | c.472C>A (p.His158Asn) c.436C>A (p.His146Asn) c.253C>A (p.His85Asn) n.342C>A | gnomAD v4 |
11 | g.17553415C>G | CA379811378 | OTOG | c.472C>G (p.His158Asp) c.436C>G (p.His146Asp) c.253C>G (p.His85Asp) n.342C>G | |
11 | g.17553415C>T | CA379811370 | OTOG | c.472C>T (p.His158Tyr) c.436C>T (p.His146Tyr) c.253C>T (p.His85Tyr) n.342C>T | gnomAD v4 |
11 | g.17553416A>C | CA379811389 | OTOG | c.473A>C (p.His158Pro) c.437A>C (p.His146Pro) c.254A>C (p.His85Pro) n.343A>C | |
11 | g.17553416A>G | CA379811383 | OTOG | c.473A>G (p.His158Arg) c.437A>G (p.His146Arg) c.254A>G (p.His85Arg) n.343A>G | gnomAD v4 |
11 | g.17553416A>T | CA379811386 | OTOG | c.473A>T (p.His158Leu) c.437A>T (p.His146Leu) c.254A>T (p.His85Leu) n.343A>T | |
11 | g.17553417C>A | CA379811392 | OTOG | c.474C>A (p.His158Gln) c.438C>A (p.His146Gln) c.255C>A (p.His85Gln) n.344C>A | gnomAD v4 COSMIC |
11 | g.17553417C>G | CA379811395 | OTOG | c.474C>G (p.His158Gln) c.438C>G (p.His146Gln) c.255C>G (p.His85Gln) n.344C>G | |
11 | g.17553417C>T | CA473516757 | OTOG | c.474C>T (p.His158=) c.438C>T (p.His146=) c.255C>T (p.His85=) n.344C>T | gnomAD v4 |
11 | g.17553418del | CA2612679581 | OTOG | c.475del (p.His159ThrfsTer?) c.439del (p.His147ThrfsTer?) c.256del (p.His86ThrfsTer?) n.345del | gnomAD v4 |
11 | g.17553418C>A | CA379811401 | OTOG | c.475C>A (p.His159Asn) c.439C>A (p.His147Asn) c.256C>A (p.His86Asn) n.345C>A | gnomAD v4 |
11 | g.17553418C= | CA1955197761 | OTOG | c.475C= (p.His159=) c.439C= (p.His147=) c.256C= (p.His86=) n.345C= | |
11 | g.17553418C>G | CA379811404 | OTOG | c.475C>G (p.His159Asp) c.439C>G (p.His147Asp) c.256C>G (p.His86Asp) n.345C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553418C>T | CA379811418 | OTOG | c.475C>T (p.His159Tyr) c.439C>T (p.His147Tyr) c.256C>T (p.His86Tyr) n.345C>T | gnomAD v4 |
11 | g.17553419A= | CA1955197762 | OTOG | c.476A= (p.His159=) c.440A= (p.His147=) c.257A= (p.His86=) n.346A= | |
11 | g.17553419A>C | CA379811421 | OTOG | c.476A>C (p.His159Pro) c.440A>C (p.His147Pro) c.257A>C (p.His86Pro) n.346A>C | gnomAD v4 |
11 | g.17553419A>G | CA379811423 | OTOG | c.476A>G (p.His159Arg) c.440A>G (p.His147Arg) c.257A>G (p.His86Arg) n.346A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553419A>T | CA379811426 | OTOG | c.476A>T (p.His159Leu) c.440A>T (p.His147Leu) c.257A>T (p.His86Leu) n.346A>T | |
11 | g.17553420C>A | CA379811429 | OTOG | c.477C>A (p.His159Gln) c.441C>A (p.His147Gln) c.258C>A (p.His86Gln) n.347C>A | gnomAD v4 |
11 | g.17553420C= | CA1955197763 | OTOG | c.477C= (p.His159=) c.441C= (p.His147=) c.258C= (p.His86=) n.347C= | |
11 | g.17553420C>G | CA379811430 | OTOG | c.477C>G (p.His159Gln) c.441C>G (p.His147Gln) c.258C>G (p.His86Gln) n.347C>G | |
11 | g.17553420C>T | CA5905359 | OTOG | c.477C>T (p.His159=) c.441C>T (p.His147=) c.258C>T (p.His86=) n.347C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553421G>A | CA379811432 | OTOG | c.478G>A (p.Val160Met) c.442G>A (p.Val148Met) c.259G>A (p.Val87Met) n.348G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553421G>C | CA379811434 | OTOG | c.478G>C (p.Val160Leu) c.442G>C (p.Val148Leu) c.259G>C (p.Val87Leu) n.348G>C | gnomAD v4 |
11 | g.17553421G= | CA1955197764 | OTOG | c.478G= (p.Val160=) c.442G= (p.Val148=) c.259G= (p.Val87=) n.348G= | |
11 | g.17553421G>T | CA5905360 | OTOG | c.478G>T (p.Val160Leu) c.442G>T (p.Val148Leu) c.259G>T (p.Val87Leu) n.348G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553422T>A | CA379811438 | OTOG | c.479T>A (p.Val160Glu) c.443T>A (p.Val148Glu) c.260T>A (p.Val87Glu) n.349T>A | |
11 | g.17553422T>C | CA379811440 | OTOG | c.479T>C (p.Val160Ala) c.443T>C (p.Val148Ala) c.260T>C (p.Val87Ala) n.349T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553422T>G | CA379811442 | OTOG | c.479T>G (p.Val160Gly) c.443T>G (p.Val148Gly) c.260T>G (p.Val87Gly) n.349T>G | |
11 | g.17553422T= | CA1955197765 | OTOG | c.479T= (p.Val160=) c.443T= (p.Val148=) c.260T= (p.Val87=) n.349T= | |
11 | g.17553423G>A | CA473516760 | OTOG | c.480G>A (p.Val160=) c.444G>A (p.Val148=) c.261G>A (p.Val87=) n.350G>A | |
11 | g.17553423G>C | CA473516759 | OTOG | c.480G>C (p.Val160=) c.444G>C (p.Val148=) c.261G>C (p.Val87=) n.350G>C | |
11 | g.17553423G>T | CA473516758 | OTOG | c.480G>T (p.Val160=) c.444G>T (p.Val148=) c.261G>T (p.Val87=) n.350G>T | gnomAD v4 |
11 | g.17553424G>A | CA379811445 | OTOG | c.481G>A (p.Glu161Lys) c.445G>A (p.Glu149Lys) c.262G>A (p.Glu88Lys) n.351G>A | gnomAD v4 |
11 | g.17553424G>C | CA379811447 | OTOG | c.481G>C (p.Glu161Gln) c.445G>C (p.Glu149Gln) c.262G>C (p.Glu88Gln) n.351G>C | |
11 | g.17553424G>T | CA379811449 | OTOG | c.481G>T (p.Glu161Ter) c.445G>T (p.Glu149Ter) c.262G>T (p.Glu88Ter) n.351G>T | gnomAD v4 |
11 | g.17553425A>C | CA379811452 | OTOG | c.482A>C (p.Glu161Ala) c.446A>C (p.Glu149Ala) c.263A>C (p.Glu88Ala) n.352A>C | |
11 | g.17553425A>G | CA379811454 | OTOG | c.482A>G (p.Glu161Gly) c.446A>G (p.Glu149Gly) c.263A>G (p.Glu88Gly) n.352A>G | gnomAD v4 |
11 | g.17553425A>T | CA379811456 | OTOG | c.482A>T (p.Glu161Val) c.446A>T (p.Glu149Val) c.263A>T (p.Glu88Val) n.352A>T | |
11 | g.17553426G>A | CA473516761 | OTOG | c.483G>A (p.Glu161=) c.447G>A (p.Glu149=) c.264G>A (p.Glu88=) n.353G>A | |
11 | g.17553426G>C | CA379811458 | OTOG | c.483G>C (p.Glu161Asp) c.447G>C (p.Glu149Asp) c.264G>C (p.Glu88Asp) n.353G>C | |
11 | g.17553426G>T | CA379811464 | OTOG | c.483G>T (p.Glu161Asp) c.447G>T (p.Glu149Asp) c.264G>T (p.Glu88Asp) n.353G>T | gnomAD v4 |
11 | g.17553427A= | CA1955197766 | OTOG | c.484A= (p.Thr162=) c.448A= (p.Thr150=) c.265A= (p.Thr89=) n.354A= | |
11 | g.17553427A>C | CA379811470 | OTOG | c.484A>C (p.Thr162Pro) c.448A>C (p.Thr150Pro) c.265A>C (p.Thr89Pro) n.354A>C | |
11 | g.17553427A>G | CA379811472 | OTOG | c.484A>G (p.Thr162Ala) c.448A>G (p.Thr150Ala) c.265A>G (p.Thr89Ala) n.354A>G | dbSNP |
11 | g.17553427A>T | CA379811468 | OTOG | c.484A>T (p.Thr162Ser) c.448A>T (p.Thr150Ser) c.265A>T (p.Thr89Ser) n.354A>T | gnomAD v4 |
11 | g.17553428C>A | CA379811480 | OTOG | c.485C>A (p.Thr162Lys) c.449C>A (p.Thr150Lys) c.266C>A (p.Thr89Lys) n.355C>A | gnomAD v4 |
11 | g.17553428C>G | CA379811482 | OTOG | c.485C>G (p.Thr162Arg) c.449C>G (p.Thr150Arg) c.266C>G (p.Thr89Arg) n.355C>G | gnomAD v4 |
11 | g.17553428C>T | CA379811483 | OTOG | c.485C>T (p.Thr162Ile) c.449C>T (p.Thr150Ile) c.266C>T (p.Thr89Ile) n.355C>T | gnomAD v4 |
11 | g.17553429A= | CA1955197767 | OTOG | c.486A= (p.Thr162=) c.450A= (p.Thr150=) c.267A= (p.Thr89=) n.356A= | |
11 | g.17553429A>C | CA473516762 | OTOG | c.486A>C (p.Thr162=) c.450A>C (p.Thr150=) c.267A>C (p.Thr89=) n.356A>C | |
11 | g.17553429A>G | CA5905361 | OTOG | c.486A>G (p.Thr162=) c.450A>G (p.Thr150=) c.267A>G (p.Thr89=) n.356A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553429A>T | CA473516763 | OTOG | c.486A>T (p.Thr162=) c.450A>T (p.Thr150=) c.267A>T (p.Thr89=) n.356A>T | |
11 | g.17553430T>A | CA379811484 | OTOG | c.487T>A (p.Phe163Ile) c.451T>A (p.Phe151Ile) c.268T>A (p.Phe90Ile) n.357T>A | gnomAD v4 |
11 | g.17553430T>C | CA379811485 | OTOG | c.487T>C (p.Phe163Leu) c.451T>C (p.Phe151Leu) c.268T>C (p.Phe90Leu) n.357T>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553430T>G | CA379811486 | OTOG | c.487T>G (p.Phe163Val) c.451T>G (p.Phe151Val) c.268T>G (p.Phe90Val) n.357T>G | |
11 | g.17553430T= | CA1955197768 | OTOG | c.487T= (p.Phe163=) c.451T= (p.Phe151=) c.268T= (p.Phe90=) n.357T= | |
11 | g.17553432del | CA2612679619 | OTOG | c.489del (p.Phe163LeufsTer?) c.453del (p.Phe151LeufsTer?) c.270del (p.Phe90LeufsTer?) n.359del | gnomAD v4 |
11 | g.17553431T>A | CA379811489 | OTOG | c.488T>A (p.Phe163Tyr) c.452T>A (p.Phe151Tyr) c.269T>A (p.Phe90Tyr) n.358T>A | gnomAD v4 |
11 | g.17553431T>C | CA379811491 | OTOG | c.488T>C (p.Phe163Ser) c.452T>C (p.Phe151Ser) c.269T>C (p.Phe90Ser) n.358T>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553431T>G | CA379811493 | OTOG | c.488T>G (p.Phe163Cys) c.452T>G (p.Phe151Cys) c.269T>G (p.Phe90Cys) n.358T>G | |
11 | g.17553431T= | CA1955197769 | OTOG | c.488T= (p.Phe163=) c.452T= (p.Phe151=) c.269T= (p.Phe90=) n.358T= | |
11 | g.17553432T>A | CA379811496 | OTOG | c.489T>A (p.Phe163Leu) c.453T>A (p.Phe151Leu) c.270T>A (p.Phe90Leu) n.359T>A | |
11 | g.17553432T>C | CA473516764 | OTOG | c.489T>C (p.Phe163=) c.453T>C (p.Phe151=) c.270T>C (p.Phe90=) n.359T>C | dbSNP gnomAD v4 |
11 | g.17553432T>G | CA379811498 | OTOG | c.489T>G (p.Phe163Leu) c.453T>G (p.Phe151Leu) c.270T>G (p.Phe90Leu) n.359T>G | |
11 | g.17553432T= | CA1955197770 | OTOG | c.489T= (p.Phe163=) c.453T= (p.Phe151=) c.270T= (p.Phe90=) n.359T= | |
11 | g.17553433G>A | CA379811504 | OTOG | c.490G>A (p.Asp164Asn) c.454G>A (p.Asp152Asn) c.271G>A (p.Asp91Asn) n.360G>A | |
11 | g.17553433G>C | CA379811506 | OTOG | c.490G>C (p.Asp164His) c.454G>C (p.Asp152His) c.271G>C (p.Asp91His) n.360G>C | |
11 | g.17553433G>T | CA379811501 | OTOG | c.490G>T (p.Asp164Tyr) c.454G>T (p.Asp152Tyr) c.271G>T (p.Asp91Tyr) n.360G>T | gnomAD v4 |
11 | g.17553434A= | CA1955197771 | OTOG | c.491A= (p.Asp164=) c.455A= (p.Asp152=) c.272A= (p.Asp91=) n.361A= | |
11 | g.17553434A>C | CA379811510 | OTOG | c.491A>C (p.Asp164Ala) c.455A>C (p.Asp152Ala) c.272A>C (p.Asp91Ala) n.361A>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553434A>G | CA379811512 | OTOG | c.491A>G (p.Asp164Gly) c.455A>G (p.Asp152Gly) c.272A>G (p.Asp91Gly) n.361A>G | gnomAD v4 |
11 | g.17553434A>T | CA379811514 | OTOG | c.491A>T (p.Asp164Val) c.455A>T (p.Asp152Val) c.272A>T (p.Asp91Val) n.361A>T | gnomAD v4 |
11 | g.17553435T>A | CA379811517 | OTOG | c.492T>A (p.Asp164Glu) c.456T>A (p.Asp152Glu) c.273T>A (p.Asp91Glu) n.362T>A | |
11 | g.17553435T>C | CA473516765 | OTOG | c.492T>C (p.Asp164=) c.456T>C (p.Asp152=) c.273T>C (p.Asp91=) n.362T>C | gnomAD v4 |
11 | g.17553435T>G | CA379811519 | OTOG | c.492T>G (p.Asp164Glu) c.456T>G (p.Asp152Glu) c.273T>G (p.Asp91Glu) n.362T>G | |
11 | g.17553436_17553445del | CA2790596449 | OTOG | c.493_502del (p.Gly165ThrfsTer?) c.457_466del (p.Gly153ThrfsTer?) n.363_372del | |
11 | g.17553436G>A | CA379811526 | OTOG | c.493G>A (p.Gly165Arg) c.457G>A (p.Gly153Arg) c.274G>A (p.Gly92Arg) n.363G>A | gnomAD v4 |
11 | g.17553436G>C | CA379811523 | OTOG | c.493G>C (p.Gly165Arg) c.457G>C (p.Gly153Arg) c.274G>C (p.Gly92Arg) n.363G>C | |
11 | g.17553436G>T | CA379811521 | OTOG | c.493G>T (p.Gly165Trp) c.457G>T (p.Gly153Trp) c.274G>T (p.Gly92Trp) n.363G>T | gnomAD v4 |
11 | g.17553437G>A | CA379811528 | OTOG | c.494G>A (p.Gly165Glu) c.458G>A (p.Gly153Glu) c.275G>A (p.Gly92Glu) n.364G>A | gnomAD v4 |
11 | g.17553437G>C | CA379811530 | OTOG | c.494G>C (p.Gly165Ala) c.458G>C (p.Gly153Ala) c.275G>C (p.Gly92Ala) n.364G>C | |
11 | g.17553437G>T | CA379811532 | OTOG | c.494G>T (p.Gly165Val) c.458G>T (p.Gly153Val) c.275G>T (p.Gly92Val) n.364G>T | gnomAD v4 |
11 | g.17553438G>A | CA473516766 | OTOG | c.495G>A (p.Gly165=) c.459G>A (p.Gly153=) c.276G>A (p.Gly92=) n.365G>A | dbSNP gnomAD v4 |
11 | g.17553438G>C | CA473516767 | OTOG | c.495G>C (p.Gly165=) c.459G>C (p.Gly153=) c.276G>C (p.Gly92=) n.365G>C | gnomAD v4 |
11 | g.17553438G= | CA1955197772 | OTOG | c.495G= (p.Gly165=) c.459G= (p.Gly153=) c.276G= (p.Gly92=) n.365G= | |
11 | g.17553438G>T | CA473516768 | OTOG | c.495G>T (p.Gly165=) c.459G>T (p.Gly153=) c.276G>T (p.Gly92=) n.365G>T | ClinVar dbSNP gnomAD v4 |
11 | g.17553439C>A | CA379811534 | OTOG | c.496C>A (p.Leu166Ile) c.460C>A (p.Leu154Ile) c.277C>A (p.Leu93Ile) n.366C>A | dbSNP gnomAD v4 |
11 | g.17553439C= | CA1955197773 | OTOG | c.496C= (p.Leu166=) c.460C= (p.Leu154=) c.277C= (p.Leu93=) n.366C= | |
11 | g.17553439C>G | CA379811536 | OTOG | c.496C>G (p.Leu166Val) c.460C>G (p.Leu154Val) c.277C>G (p.Leu93Val) n.366C>G | gnomAD v4 |
11 | g.17553439C>T | CA379811538 | OTOG | c.496C>T (p.Leu166Phe) c.460C>T (p.Leu154Phe) c.277C>T (p.Leu93Phe) n.366C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553440T>A | CA379811546 | OTOG | c.497T>A (p.Leu166His) c.461T>A (p.Leu154His) c.278T>A (p.Leu93His) n.367T>A | |
11 | g.17553440T>C | CA379811545 | OTOG | c.497T>C (p.Leu166Pro) c.461T>C (p.Leu154Pro) c.278T>C (p.Leu93Pro) n.367T>C | gnomAD v4 |
11 | g.17553440T>G | CA379811542 | OTOG | c.497T>G (p.Leu166Arg) c.461T>G (p.Leu154Arg) c.278T>G (p.Leu93Arg) n.367T>G | |
11 | g.17553441C>A | CA473516769 | OTOG | c.498C>A (p.Leu166=) c.462C>A (p.Leu154=) c.279C>A (p.Leu93=) n.368C>A | gnomAD v4 |
11 | g.17553441C= | CA1955197774 | OTOG | c.498C= (p.Leu166=) c.462C= (p.Leu154=) c.279C= (p.Leu93=) n.368C= | |
11 | g.17553441C>G | CA473516771 | OTOG | c.498C>G (p.Leu166=) c.462C>G (p.Leu154=) c.279C>G (p.Leu93=) n.368C>G | gnomAD v4 |
11 | g.17553441C>T | CA473516770 | OTOG | c.498C>T (p.Leu166=) c.462C>T (p.Leu154=) c.279C>T (p.Leu93=) n.368C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553448_17553450del | CA2612679626 | OTOG | c.505_507del (p.Tyr169del) c.469_471del (p.Tyr157del) n.375_377del | gnomAD v4 |
11 | g.17553442T>A | CA379811549 | OTOG | c.499T>A (p.Tyr167Asn) c.463T>A (p.Tyr155Asn) c.280T>A (p.Tyr94Asn) n.369T>A | |
11 | g.17553442T>C | CA379811553 | OTOG | c.499T>C (p.Tyr167His) c.463T>C (p.Tyr155His) c.280T>C (p.Tyr94His) n.369T>C | gnomAD v4 |
11 | g.17553442T>G | CA379811551 | OTOG | c.499T>G (p.Tyr167Asp) c.463T>G (p.Tyr155Asp) c.280T>G (p.Tyr94Asp) n.369T>G | |
11 | g.17553443A= | CA1955197775 | OTOG | c.500A= (p.Tyr167=) c.464A= (p.Tyr155=) c.281A= (p.Tyr94=) n.370A= | |
11 | g.17553443A>C | CA379811556 | OTOG | c.500A>C (p.Tyr167Ser) c.464A>C (p.Tyr155Ser) c.281A>C (p.Tyr94Ser) n.370A>C | gnomAD v4 |
11 | g.17553443A>G | CA218490163 | OTOG | c.500A>G (p.Tyr167Cys) c.464A>G (p.Tyr155Cys) c.281A>G (p.Tyr94Cys) n.370A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553443A>T | CA379811559 | OTOG | c.500A>T (p.Tyr167Phe) c.464A>T (p.Tyr155Phe) c.281A>T (p.Tyr94Phe) n.370A>T | gnomAD v4 |
11 | g.17553444C>A | CA379811561 | OTOG | c.501C>A (p.Tyr167Ter) c.465C>A (p.Tyr155Ter) c.282C>A (p.Tyr94Ter) n.371C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553444C= | CA1955197776 | OTOG | c.501C= (p.Tyr167=) c.465C= (p.Tyr155=) c.282C= (p.Tyr94=) n.371C= | |
11 | g.17553444C>G | CA379811562 | OTOG | c.501C>G (p.Tyr167Ter) c.465C>G (p.Tyr155Ter) c.282C>G (p.Tyr94Ter) n.371C>G | gnomAD v4 |
11 | g.17553444C>T | CA473516772 | OTOG | c.501C>T (p.Tyr167=) c.465C>T (p.Tyr155=) c.282C>T (p.Tyr94=) n.371C>T | gnomAD v4 |
11 | g.17553445T>A | CA379811563 | OTOG | c.502T>A (p.Tyr168Asn) c.466T>A (p.Tyr156Asn) n.372T>A | |
11 | g.17553445T>C | CA379811564 | OTOG | c.502T>C (p.Tyr168His) c.466T>C (p.Tyr156His) n.372T>C | gnomAD v4 |
11 | g.17553445T>G | CA379811567 | OTOG | c.502T>G (p.Tyr168Asp) c.466T>G (p.Tyr156Asp) n.372T>G | |
11 | g.17553446A>C | CA379811569 | OTOG | c.503A>C (p.Tyr168Ser) c.467A>C (p.Tyr156Ser) n.373A>C | gnomAD v4 |
11 | g.17553446A>G | CA379811570 | OTOG | c.503A>G (p.Tyr168Cys) c.467A>G (p.Tyr156Cys) n.373A>G | gnomAD v4 |
11 | g.17553446A>T | CA379811571 | OTOG | c.503A>T (p.Tyr168Phe) c.467A>T (p.Tyr156Phe) n.373A>T | gnomAD v4 |
11 | g.17553447C>A | CA379811574 | OTOG | c.504C>A (p.Tyr168Ter) c.468C>A (p.Tyr156Ter) n.374C>A | gnomAD v4 |
11 | g.17553447C>G | CA379811589 | OTOG | c.504C>G (p.Tyr168Ter) c.468C>G (p.Tyr156Ter) n.374C>G | gnomAD v4 |
11 | g.17553447C>T | CA473516773 | OTOG | c.504C>T (p.Tyr168=) c.468C>T (p.Tyr156=) n.374C>T | gnomAD v4 |
11 | g.17553448T>A | CA379811597 | OTOG | c.505T>A (p.Tyr169Asn) c.469T>A (p.Tyr157Asn) n.375T>A | |
11 | g.17553448T>C | CA379811595 | OTOG | c.505T>C (p.Tyr169His) c.469T>C (p.Tyr157His) n.375T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553448T>G | CA379811593 | OTOG | c.505T>G (p.Tyr169Asp) c.469T>G (p.Tyr157Asp) n.375T>G | |
11 | g.17553448T= | CA1955197777 | OTOG | c.505T= (p.Tyr169=) c.469T= (p.Tyr157=) n.375T= | |
11 | g.17553449A>C | CA379811599 | OTOG | c.506A>C (p.Tyr169Ser) c.470A>C (p.Tyr157Ser) n.376A>C | gnomAD v4 |
11 | g.17553449A>G | CA379811601 | OTOG | c.506A>G (p.Tyr169Cys) c.470A>G (p.Tyr157Cys) n.376A>G | gnomAD v4 COSMIC |
11 | g.17553449A>T | CA379811602 | OTOG | c.506A>T (p.Tyr169Phe) c.470A>T (p.Tyr157Phe) n.376A>T | |
11 | g.17553450C>A | CA379811603 | OTOG | c.507C>A (p.Tyr169Ter) c.471C>A (p.Tyr157Ter) n.377C>A | gnomAD v4 |
11 | g.17553450C>G | CA379811605 | OTOG | c.507C>G (p.Tyr169Ter) c.471C>G (p.Tyr157Ter) n.377C>G | gnomAD v4 |
11 | g.17553450C>T | CA473516774 | OTOG | c.507C>T (p.Tyr169=) c.471C>T (p.Tyr157=) n.377C>T | |
11 | g.17553451C>A | CA379811608 | OTOG | c.508C>A (p.Leu170Ile) c.472C>A (p.Leu158Ile) n.378C>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553451C= | CA1955197778 | OTOG | c.508C= (p.Leu170=) c.472C= (p.Leu158=) n.378C= | |
11 | g.17553451C>G | CA379811610 | OTOG | c.508C>G (p.Leu170Val) c.472C>G (p.Leu158Val) n.378C>G | |
11 | g.17553451C>T | CA218490169 | OTOG | c.508C>T (p.Leu170Phe) c.472C>T (p.Leu158Phe) n.378C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553452T>A | CA379811619 | OTOG | c.509T>A (p.Leu170His) c.473T>A (p.Leu158His) n.379T>A | |
11 | g.17553452T>C | CA379811622 | OTOG | c.509T>C (p.Leu170Pro) c.473T>C (p.Leu158Pro) n.379T>C | gnomAD v4 |
11 | g.17553452T>G | CA379811624 | OTOG | c.509T>G (p.Leu170Arg) c.473T>G (p.Leu158Arg) n.379T>G | |
11 | g.17553453C>A | CA473516775 | OTOG | c.510C>A (p.Leu170=) c.474C>A (p.Leu158=) n.380C>A | ClinVar gnomAD v4 |
11 | g.17553453C= | CA1955197779 | OTOG | c.510C= (p.Leu170=) c.474C= (p.Leu158=) n.380C= | |
11 | g.17553453C>G | CA473516776 | OTOG | c.510C>G (p.Leu170=) c.474C>G (p.Leu158=) n.380C>G | |
11 | g.17553453C>T | CA473516777 | OTOG | c.510C>T (p.Leu170=) c.474C>T (p.Leu158=) n.380C>T | dbSNP gnomAD v4 |
11 | g.17553454T>A | CA379811632 | OTOG | c.511T>A (p.Ser171Thr) c.475T>A (p.Ser159Thr) n.381T>A | |
11 | g.17553454T>C | CA379811630 | OTOG | c.511T>C (p.Ser171Pro) c.475T>C (p.Ser159Pro) n.381T>C | gnomAD v4 |
11 | g.17553454T>G | CA379811629 | OTOG | c.511T>G (p.Ser171Ala) c.475T>G (p.Ser159Ala) n.381T>G | |
11 | g.17553455C>A | CA379811634 | OTOG | c.512C>A (p.Ser171Tyr) c.476C>A (p.Ser159Tyr) n.382C>A | gnomAD v4 |
11 | g.17553455C>G | CA379811637 | OTOG | c.512C>G (p.Ser171Cys) c.476C>G (p.Ser159Cys) n.382C>G | |
11 | g.17553455C>T | CA379811639 | OTOG | c.512C>T (p.Ser171Phe) c.476C>T (p.Ser159Phe) n.382C>T | gnomAD v4 |
11 | g.17553456C>A | CA473516779 | OTOG | c.513C>A (p.Ser171=) c.477C>A (p.Ser159=) n.383C>A | gnomAD v4 |
11 | g.17553456C= | CA1955197780 | OTOG | c.513C= (p.Ser171=) c.477C= (p.Ser159=) n.383C= | |
11 | g.17553456C>G | CA473516778 | OTOG | c.513C>G (p.Ser171=) c.477C>G (p.Ser159=) n.383C>G | |
11 | g.17553456C>T | CA5905362 | OTOG | c.513C>T (p.Ser171=) c.477C>T (p.Ser159=) n.383C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553457G>A | CA218490174 | OTOG | c.514G>A (p.Gly172Arg) c.478G>A (p.Gly160Arg) n.384G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553457G>C | CA379811645 | OTOG | c.514G>C (p.Gly172Arg) c.478G>C (p.Gly160Arg) n.384G>C | |
11 | g.17553457G= | CA1955197781 | OTOG | c.514G= (p.Gly172=) c.478G= (p.Gly160=) n.384G= | |
11 | g.17553457G>T | CA379811647 | OTOG | c.514G>T (p.Gly172Ter) c.478G>T (p.Gly160Ter) n.384G>T | gnomAD v4 |
11 | g.17553458G>A | CA379811650 | OTOG | c.515G>A (p.Gly172Glu) c.479G>A (p.Gly160Glu) n.385G>A | gnomAD v4 |
11 | g.17553458G>C | CA379811651 | OTOG | c.515G>C (p.Gly172Ala) c.479G>C (p.Gly160Ala) n.385G>C | |
11 | g.17553458G>T | CA379811653 | OTOG | c.515G>T (p.Gly172Val) c.479G>T (p.Gly160Val) n.385G>T | gnomAD v4 |
11 | g.17553459A>C | CA473516780 | OTOG | c.516A>C (p.Gly172=) c.480A>C (p.Gly160=) n.386A>C | |
11 | g.17553459A>G | CA473516781 | OTOG | c.516A>G (p.Gly172=) c.480A>G (p.Gly160=) n.386A>G | gnomAD v4 |
11 | g.17553459A>T | CA473516782 | OTOG | c.516A>T (p.Gly172=) c.480A>T (p.Gly160=) n.386A>T | |
11 | g.17553461del | CA2612679663 | OTOG | c.518del (p.Lys173ArgfsTer?) c.482del (p.Lys161ArgfsTer?) n.388del | gnomAD v4 |
11 | g.17553460A>C | CA379811655 | OTOG | c.517A>C (p.Lys173Gln) c.481A>C (p.Lys161Gln) n.387A>C | |
11 | g.17553460A>G | CA379811657 | OTOG | c.517A>G (p.Lys173Glu) c.481A>G (p.Lys161Glu) n.387A>G | gnomAD v4 |
11 | g.17553460A>T | CA379811659 | OTOG | c.517A>T (p.Lys173Ter) c.481A>T (p.Lys161Ter) n.387A>T | |
11 | g.17553461A>C | CA379811661 | OTOG | c.518A>C (p.Lys173Thr) c.482A>C (p.Lys161Thr) n.388A>C | |
11 | g.17553461A>G | CA379811665 | OTOG | c.518A>G (p.Lys173Arg) c.482A>G (p.Lys161Arg) n.388A>G | gnomAD v4 |
11 | g.17553461A>T | CA379811663 | OTOG | c.518A>T (p.Lys173Met) c.482A>T (p.Lys161Met) n.388A>T | |
11 | g.17553462G>A | CA473516783 | OTOG | c.519G>A (p.Lys173=) c.483G>A (p.Lys161=) n.389G>A | gnomAD v4 |
11 | g.17553462G>C | CA379811668 | OTOG | c.519G>C (p.Lys173Asn) c.483G>C (p.Lys161Asn) n.389G>C | |
11 | g.17553462G>T | CA379811671 | OTOG | c.519G>T (p.Lys173Asn) c.483G>T (p.Lys161Asn) n.389G>T | gnomAD v4 |
11 | g.17553464del | CA2612679669 | OTOG | c.521del (p.Gly174AlafsTer?) c.485del (p.Gly162AlafsTer?) n.391del | gnomAD v4 |
11 | g.17553463G>A | CA379811673 | OTOG | c.520G>A (p.Gly174Ser) c.484G>A (p.Gly162Ser) n.390G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553463G>C | CA379811676 | OTOG | c.520G>C (p.Gly174Arg) c.484G>C (p.Gly162Arg) n.390G>C | |
11 | g.17553463G= | CA1955197782 | OTOG | c.520G= (p.Gly174=) c.484G= (p.Gly162=) n.390G= | |
11 | g.17553463G>T | CA379811677 | OTOG | c.520G>T (p.Gly174Cys) c.484G>T (p.Gly162Cys) n.390G>T | |
11 | g.17553464G>A | CA379811681 | OTOG | c.521G>A (p.Gly174Asp) c.485G>A (p.Gly162Asp) n.391G>A | gnomAD v4 |
11 | g.17553464G>C | CA379811683 | OTOG | c.521G>C (p.Gly174Ala) c.485G>C (p.Gly162Ala) n.391G>C | gnomAD v4 |
11 | g.17553464G>T | CA379811686 | OTOG | c.521G>T (p.Gly174Val) c.485G>T (p.Gly162Val) n.391G>T | |
11 | g.17553465del | CA2612679677 | OTOG | c.522del (p.Ser175AlafsTer?) c.486del (p.Ser163AlafsTer?) n.392del | gnomAD v4 |
11 | g.17553465C>A | CA473516784 | OTOG | c.522C>A (p.Gly174=) c.486C>A (p.Gly162=) n.392C>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553465C= | CA1955197783 | OTOG | c.522C= (p.Gly174=) c.486C= (p.Gly162=) n.392C= | |
11 | g.17553465C>G | CA473516785 | OTOG | c.522C>G (p.Gly174=) c.486C>G (p.Gly162=) n.392C>G | gnomAD v4 |
11 | g.17553465C>T | CA473516786 | OTOG | c.522C>T (p.Gly174=) c.486C>T (p.Gly162=) n.392C>T | gnomAD v4 |
11 | g.17553466A>C | CA379811690 | OTOG | c.523A>C (p.Ser175Arg) c.487A>C (p.Ser163Arg) n.393A>C | |
11 | g.17553466A>G | CA379811693 | OTOG | c.523A>G (p.Ser175Gly) c.487A>G (p.Ser163Gly) n.393A>G | gnomAD v4 |
11 | g.17553466A>T | CA379811695 | OTOG | c.523A>T (p.Ser175Cys) c.487A>T (p.Ser163Cys) n.393A>T | |
11 | g.17553467G>A | CA379811698 | OTOG | c.524G>A (p.Ser175Asn) c.488G>A (p.Ser163Asn) n.394G>A | dbSNP gnomAD v4 |
11 | g.17553467G>C | CA379811699 | OTOG | c.524G>C (p.Ser175Thr) c.488G>C (p.Ser163Thr) n.394G>C | |
11 | g.17553467G= | CA1955197784 | OTOG | c.524G= (p.Ser175=) c.488G= (p.Ser163=) n.394G= | |
11 | g.17553467G>T | CA379811696 | OTOG | c.524G>T (p.Ser175Ile) c.488G>T (p.Ser163Ile) n.394G>T | |
11 | g.17553468C>A | CA379811707 | OTOG | c.525C>A (p.Ser175Arg) c.489C>A (p.Ser163Arg) n.395C>A | gnomAD v4 |
11 | g.17553468C= | CA1955197785 | OTOG | c.525C= (p.Ser175=) c.489C= (p.Ser163=) n.395C= | |
11 | g.17553468C>G | CA379811704 | OTOG | c.525C>G (p.Ser175Arg) c.489C>G (p.Ser163Arg) n.395C>G | |
11 | g.17553468C>T | CA473516787 | OTOG | c.525C>T (p.Ser175=) c.489C>T (p.Ser163=) n.395C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553469T>A | CA379811710 | OTOG | c.526T>A (p.Tyr176Asn) c.490T>A (p.Tyr164Asn) n.396T>A | |
11 | g.17553469T>C | CA379811712 | OTOG | c.526T>C (p.Tyr176His) c.490T>C (p.Tyr164His) n.396T>C | gnomAD v4 |
11 | g.17553469T>G | CA379811714 | OTOG | c.526T>G (p.Tyr176Asp) c.490T>G (p.Tyr164Asp) n.396T>G | |
11 | g.17553470A= | CA1955197786 | OTOG | c.527A= (p.Tyr176=) c.491A= (p.Tyr164=) n.397A= | |
11 | g.17553470A>C | CA379811717 | OTOG | c.527A>C (p.Tyr176Ser) c.491A>C (p.Tyr164Ser) n.397A>C | |
11 | g.17553470A>G | CA379811719 | OTOG | c.527A>G (p.Tyr176Cys) c.491A>G (p.Tyr164Cys) n.397A>G | dbSNP |
11 | g.17553470A>T | CA379811721 | OTOG | c.527A>T (p.Tyr176Phe) c.491A>T (p.Tyr164Phe) n.397A>T | |
11 | g.17553471C>A | CA379811725 | OTOG | c.528C>A (p.Tyr176Ter) c.492C>A (p.Tyr164Ter) n.398C>A | gnomAD v4 |
11 | g.17553471C= | CA1955197787 | OTOG | c.528C= (p.Tyr176=) c.492C= (p.Tyr164=) n.398C= | |
11 | g.17553471C>G | CA379811727 | OTOG | c.528C>G (p.Tyr176Ter) c.492C>G (p.Tyr164Ter) n.398C>G | |
11 | g.17553471C>T | CA5905363 | OTOG | c.528C>T (p.Tyr176=) c.492C>T (p.Tyr164=) n.398C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553472A= | CA1955197788 | OTOG | c.529A= (p.Thr177=) c.493A= (p.Thr165=) n.399A= | |
11 | g.17553472A>C | CA379811732 | OTOG | c.529A>C (p.Thr177Pro) c.493A>C (p.Thr165Pro) n.399A>C | |
11 | g.17553472A>G | CA379811733 | OTOG | c.529A>G (p.Thr177Ala) c.493A>G (p.Thr165Ala) n.399A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553472A>T | CA379811735 | OTOG | c.529A>T (p.Thr177Ser) c.493A>T (p.Thr165Ser) n.399A>T | dbSNP |
11 | g.17553473C>A | CA379811738 | OTOG | c.530C>A (p.Thr177Asn) c.494C>A (p.Thr165Asn) n.400C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553473C= | CA1955197789 | OTOG | c.530C= (p.Thr177=) c.494C= (p.Thr165=) n.400C= | |
11 | g.17553473C>G | CA379811742 | OTOG | c.530C>G (p.Thr177Ser) c.494C>G (p.Thr165Ser) n.400C>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553473C>T | CA379811740 | OTOG | c.530C>T (p.Thr177Ile) c.494C>T (p.Thr165Ile) n.400C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553474C>A | CA473516788 | OTOG | c.531C>A (p.Thr177=) c.495C>A (p.Thr165=) n.401C>A | gnomAD v4 |
11 | g.17553474C= | CA1955197790 | OTOG | c.531C= (p.Thr177=) c.495C= (p.Thr165=) n.401C= | |
11 | g.17553474C>G | CA473516789 | OTOG | c.531C>G (p.Thr177=) c.495C>G (p.Thr165=) n.401C>G | |
11 | g.17553474C>T | CA5905364 | OTOG | c.531C>T (p.Thr177=) c.495C>T (p.Thr165=) n.401C>T | dbSNP ExAC gnomAD v2 |
11 | g.17553475C>A | CA379811753 | OTOG | c.532C>A (p.Leu178Met) c.496C>A (p.Leu166Met) n.402C>A | gnomAD v4 |
11 | g.17553475C>G | CA379811755 | OTOG | c.532C>G (p.Leu178Val) c.496C>G (p.Leu166Val) n.402C>G | gnomAD v4 |
11 | g.17553475C>T | CA473516790 | OTOG | c.532C>T (p.Leu178=) c.496C>T (p.Leu166=) n.402C>T | |
11 | g.17553476T>A | CA379811758 | OTOG | c.533T>A (p.Leu178Gln) c.497T>A (p.Leu166Gln) n.403T>A | |
11 | g.17553476T>C | CA379811760 | OTOG | c.533T>C (p.Leu178Pro) c.497T>C (p.Leu166Pro) n.403T>C | gnomAD v4 |
11 | g.17553476T>G | CA379811762 | OTOG | c.533T>G (p.Leu178Arg) c.497T>G (p.Leu166Arg) n.403T>G | gnomAD v4 |
11 | g.17553476_17553477delinsTG | CA1955197791 | OTOG | c.533_534delinsTG (p.Leu178=) c.497_498delinsTG (p.Leu166=) n.403_404delinsTG | |
11 | g.17553477G>A | CA218490193 | OTOG | c.534G>A (p.Leu178=) c.498G>A (p.Leu166=) n.404G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553477G>C | CA473516791 | OTOG | c.534G>C (p.Leu178=) c.498G>C (p.Leu166=) n.404G>C | |
11 | g.17553477G= | CA1955197792 | OTOG | c.534G= (p.Leu178=) c.498G= (p.Leu166=) n.404G= | |
11 | g.17553477G>T | CA473516792 | OTOG | c.534G>T (p.Leu178=) c.498G>T (p.Leu166=) n.404G>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553478del | CA5905365 | OTOG | c.535del (p.Val179TrpfsTer?) c.499del (p.Val167TrpfsTer?) n.405del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553478G>A | CA379811771 | OTOG | c.535G>A (p.Val179Met) c.499G>A (p.Val167Met) n.405G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553478G>C | CA379811773 | OTOG | c.535G>C (p.Val179Leu) c.499G>C (p.Val167Leu) n.405G>C | |
11 | g.17553478G= | CA1955197793 | OTOG | c.535G= (p.Val179=) c.499G= (p.Val167=) n.405G= | |
11 | g.17553478G>T | CA379811775 | OTOG | c.535G>T (p.Val179Leu) c.499G>T (p.Val167Leu) n.405G>T | |
11 | g.17553479T>A | CA379811781 | OTOG | c.536T>A (p.Val179Glu) c.500T>A (p.Val167Glu) n.406T>A | |
11 | g.17553479T>C | CA379811783 | OTOG | c.536T>C (p.Val179Ala) c.500T>C (p.Val167Ala) n.406T>C | gnomAD v4 |
11 | g.17553479T>G | CA379811779 | OTOG | c.536T>G (p.Val179Gly) c.500T>G (p.Val167Gly) n.406T>G | |
11 | g.17553480G>A | CA473516793 | OTOG | c.537G>A (p.Val179=) c.501G>A (p.Val167=) n.407G>A | gnomAD v4 |
11 | g.17553480G>C | CA473516794 | OTOG | c.537G>C (p.Val179=) c.501G>C (p.Val167=) n.407G>C | |
11 | g.17553480G>T | CA473516795 | OTOG | c.537G>T (p.Val179=) c.501G>T (p.Val167=) n.407G>T | gnomAD v4 |
11 | g.17553481G>A | CA379811786 | OTOG | c.538G>A (p.Gly180Ser) c.502G>A (p.Gly168Ser) n.408G>A | dbSNP gnomAD v4 |
11 | g.17553481G>C | CA379811787 | OTOG | c.538G>C (p.Gly180Arg) c.502G>C (p.Gly168Arg) n.408G>C | |
11 | g.17553481G= | CA1955197794 | OTOG | c.538G= (p.Gly180=) c.502G= (p.Gly168=) n.408G= | |
11 | g.17553481G>T | CA379811788 | OTOG | c.538G>T (p.Gly180Cys) c.502G>T (p.Gly168Cys) n.408G>T | |
11 | g.17553482G>A | CA379811789 | OTOG | c.539G>A (p.Gly180Asp) c.503G>A (p.Gly168Asp) n.409G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553482G>C | CA379811790 | OTOG | c.539G>C (p.Gly180Ala) c.503G>C (p.Gly168Ala) n.409G>C | |
11 | g.17553482G= | CA1955197795 | OTOG | c.539G= (p.Gly180=) c.503G= (p.Gly168=) n.409G= | |
11 | g.17553482G>T | CA379811791 | OTOG | c.539G>T (p.Gly180Val) c.503G>T (p.Gly168Val) n.409G>T | |
11 | g.17553483T>A | CA473516796 | OTOG | c.540T>A (p.Gly180=) c.504T>A (p.Gly168=) n.410T>A | |
11 | g.17553483T>C | CA473516797 | OTOG | c.540T>C (p.Gly180=) c.504T>C (p.Gly168=) n.410T>C | gnomAD v4 |
11 | g.17553483T>G | CA473516798 | OTOG | c.540T>G (p.Gly180=) c.504T>G (p.Gly168=) n.410T>G | |
11 | g.17553484C>A | CA379811792 | OTOG | c.541C>A (p.Arg181Ser) c.505C>A (p.Arg169Ser) n.411C>A | gnomAD v4 |
11 | g.17553484C= | CA1955197796 | OTOG | c.541C= (p.Arg181=) c.505C= (p.Arg169=) n.411C= | |
11 | g.17553484C>G | CA379811793 | OTOG | c.541C>G (p.Arg181Gly) c.505C>G (p.Arg169Gly) n.411C>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553484C>T | CA5905366 | OTOG | c.541C>T (p.Arg181Cys) c.505C>T (p.Arg169Cys) n.411C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17553485G>A | CA379811794 | OTOG | c.542G>A (p.Arg181His) c.506G>A (p.Arg169His) n.412G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553485G>C | CA379811795 | OTOG | c.542G>C (p.Arg181Pro) c.506G>C (p.Arg169Pro) n.412G>C | |
11 | g.17553485G= | CA1955197797 | OTOG | c.542G= (p.Arg181=) c.506G= (p.Arg169=) n.412G= | |
11 | g.17553485G>T | CA218490201 | OTOG | c.542G>T (p.Arg181Leu) c.506G>T (p.Arg169Leu) n.412G>T | dbSNP gnomAD v2 gnomAD v4 |