| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 11 | g.17553486C>A | CA473516799 | OTOG | c.543C>A (p.Arg181=) c.507C>A (p.Arg169=) n.413C>A | gnomAD v4 |
| 11 | g.17553486C>G | CA473516800 | OTOG | c.543C>G (p.Arg181=) c.507C>G (p.Arg169=) n.413C>G | |
| 11 | g.17553486C>T | CA473516801 | OTOG | c.543C>T (p.Arg181=) c.507C>T (p.Arg169=) n.413C>T | gnomAD v4 |
| 11 | g.17553487C>A | CA379811797 | OTOG | c.544C>A (p.His182Asn) c.508C>A (p.His170Asn) n.414C>A | gnomAD v4 |
| 11 | g.17553487C>G | CA379811798 | OTOG | c.544C>G (p.His182Asp) c.508C>G (p.His170Asp) n.414C>G | gnomAD v4 |
| 11 | g.17553487C>T | CA379811796 | OTOG | c.544C>T (p.His182Tyr) c.508C>T (p.His170Tyr) n.414C>T | gnomAD v4 |
| 11 | g.17553488A>C | CA379811799 | OTOG | c.545A>C (p.His182Pro) c.509A>C (p.His170Pro) n.415A>C | |
| 11 | g.17553488A>G | CA379811800 | OTOG | c.545A>G (p.His182Arg) c.509A>G (p.His170Arg) n.415A>G | |
| 11 | g.17553488A>T | CA379811801 | OTOG | c.545A>T (p.His182Leu) c.509A>T (p.His170Leu) n.415A>T | gnomAD v4 |
| 11 | g.17553489T>A | CA379811802 | OTOG | c.546T>A (p.His182Gln) c.510T>A (p.His170Gln) n.416T>A | gnomAD v4 |
| 11 | g.17553489T>C | CA473516802 | OTOG | c.546T>C (p.His182=) c.510T>C (p.His170=) n.416T>C | dbSNP gnomAD v4 |
| 11 | g.17553489T>G | CA379811803 | OTOG | c.546T>G (p.His182Gln) c.510T>G (p.His170Gln) n.416T>G | |
| 11 | g.17553489T= | CA1955197798 | OTOG | c.546T= (p.His182=) c.510T= (p.His170=) n.416T= | |
| 11 | g.17553490G>A | CA379811806 | OTOG | c.547G>A (p.Glu183Lys) c.511G>A (p.Glu171Lys) n.417G>A | dbSNP gnomAD v4 |
| 11 | g.17553490G>C | CA379811805 | OTOG | c.547G>C (p.Glu183Gln) c.511G>C (p.Glu171Gln) n.417G>C | |
| 11 | g.17553490G= | CA1955197799 | OTOG | c.547G= (p.Glu183=) c.511G= (p.Glu171=) n.417G= | |
| 11 | g.17553490G>T | CA379811804 | OTOG | c.547G>T (p.Glu183Ter) c.511G>T (p.Glu171Ter) n.417G>T | |
| 11 | g.17553491A>C | CA379811807 | OTOG | c.548A>C (p.Glu183Ala) c.512A>C (p.Glu171Ala) n.418A>C | |
| 11 | g.17553491A>G | CA379811808 | OTOG | c.548A>G (p.Glu183Gly) c.512A>G (p.Glu171Gly) n.418A>G | gnomAD v4 |
| 11 | g.17553491A>T | CA379811809 | OTOG | c.548A>T (p.Glu183Val) c.512A>T (p.Glu171Val) n.418A>T |