Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
11 | g.17553492G>A | CA218490203 | OTOG | c.549G>A (p.Glu183=) c.513G>A (p.Glu171=) n.419G>A | dbSNP gnomAD v4 |
11 | g.17553492G>C | CA379811810 | OTOG | c.549G>C (p.Glu183Asp) c.513G>C (p.Glu171Asp) n.419G>C | gnomAD v4 |
11 | g.17553492G= | CA1955197800 | OTOG | c.549G= (p.Glu183=) c.513G= (p.Glu171=) n.419G= | |
11 | g.17553492G>T | CA379811811 | OTOG | c.549G>T (p.Glu183Asp) c.513G>T (p.Glu171Asp) n.419G>T | |
11 | g.17553493C>A | CA379811814 | OTOG | c.550C>A (p.Pro184Thr) c.514C>A (p.Pro172Thr) n.420C>A | gnomAD v4 |
11 | g.17553493C>G | CA379811813 | OTOG | c.550C>G (p.Pro184Ala) c.514C>G (p.Pro172Ala) n.420C>G | |
11 | g.17553493C>T | CA379811812 | OTOG | c.550C>T (p.Pro184Ser) c.514C>T (p.Pro172Ser) n.420C>T | gnomAD v4 |
11 | g.17553494C>A | CA379811815 | OTOG | c.551C>A (p.Pro184His) c.515C>A (p.Pro172His) n.421C>A | gnomAD v4 |
11 | g.17553494C= | CA1955197801 | OTOG | c.551C= (p.Pro184=) c.515C= (p.Pro172=) n.421C= | |
11 | g.17553494C>G | CA379811816 | OTOG | c.551C>G (p.Pro184Arg) c.515C>G (p.Pro172Arg) n.421C>G | |
11 | g.17553494C>T | CA218490211 | OTOG | c.551C>T (p.Pro184Leu) c.515C>T (p.Pro172Leu) n.421C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553495C>A | CA473516803 | OTOG | c.552C>A (p.Pro184=) c.516C>A (p.Pro172=) n.422C>A | gnomAD v4 |
11 | g.17553495C= | CA1955197802 | OTOG | c.552C= (p.Pro184=) c.516C= (p.Pro172=) n.422C= | |
11 | g.17553495C>G | CA473516804 | OTOG | c.552C>G (p.Pro184=) c.516C>G (p.Pro172=) n.422C>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553495C>T | CA5905367 | OTOG | c.552C>T (p.Pro184=) c.516C>T (p.Pro172=) n.422C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |