Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17553382G>A | CA379811104 | OTOG | c.439G>A (p.Glu147Lys) c.403G>A (p.Glu135Lys) c.220G>A (p.Glu74Lys) n.309G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553382G>C | CA379811102 | OTOG | c.439G>C (p.Glu147Gln) c.403G>C (p.Glu135Gln) c.220G>C (p.Glu74Gln) n.309G>C | |
11 | g.17553382G= | CA1955197745 | OTOG | c.439G= (p.Glu147=) c.403G= (p.Glu135=) c.220G= (p.Glu74=) n.309G= | |
11 | g.17553382G>T | CA379811100 | OTOG | c.439G>T (p.Glu147Ter) c.403G>T (p.Glu135Ter) c.220G>T (p.Glu74Ter) n.309G>T | |
11 | g.17553383A>C | CA379811109 | OTOG | c.440A>C (p.Glu147Ala) c.404A>C (p.Glu135Ala) c.221A>C (p.Glu74Ala) n.310A>C | |
11 | g.17553383A>G | CA379811111 | OTOG | c.440A>G (p.Glu147Gly) c.404A>G (p.Glu135Gly) c.221A>G (p.Glu74Gly) n.310A>G | gnomAD v4 |
11 | g.17553383A>T | CA379811114 | OTOG | c.440A>T (p.Glu147Val) c.404A>T (p.Glu135Val) c.221A>T (p.Glu74Val) n.310A>T | |
11 | g.17553384G>A | CA5905355 | OTOG | c.441G>A (p.Glu147=) c.405G>A (p.Glu135=) c.222G>A (p.Glu74=) n.311G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17553384G>C | CA379811122 | OTOG | c.441G>C (p.Glu147Asp) c.405G>C (p.Glu135Asp) c.222G>C (p.Glu74Asp) n.311G>C | |
11 | g.17553384G= | CA1955197746 | OTOG | c.441G= (p.Glu147=) c.405G= (p.Glu135=) c.222G= (p.Glu74=) n.311G= | |
11 | g.17553384G>T | CA379811125 | OTOG | c.441G>T (p.Glu147Asp) c.405G>T (p.Glu135Asp) c.222G>T (p.Glu74Asp) n.311G>T | |
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 |