| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71725422C>T | CA261776 | C10orf105,CDH23 | c.3481C>T (p.Arg1161Ter) c.3478C>T (p.Arg1160Ter) c.3496C>T (p.Arg1166Ter) c.-5-9080G>A (n.-5-9080G>A) n.271+1317C>T c.3676C>T (p.Arg1226Ter) c.3610C>T (p.Arg1204Ter) c.-6+985G>A (n.-6+985G>A) c.3670C>T (p.Arg1224Ter) c.3616C>T (p.Arg1206Ter) c.3541C>T (p.Arg1181Ter) c.3136C>T (p.Arg1046Ter) c.2494C>T (p.Arg832Ter) c.4C>T (p.Arg2Ter) n.3919C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 10 | g.71725422C>A | CA470066169 | C10orf105,CDH23 | c.3481C>A (p.Arg1161=) c.3478C>A (p.Arg1160=) c.3496C>A (p.Arg1166=) c.-5-9080G>T (n.-5-9080G>T) n.271+1317C>A c.3676C>A (p.Arg1226=) c.3610C>A (p.Arg1204=) c.-6+985G>T (n.-6+985G>T) c.3670C>A (p.Arg1224=) c.3616C>A (p.Arg1206=) c.3541C>A (p.Arg1181=) c.3136C>A (p.Arg1046=) c.2494C>A (p.Arg832=) c.4C>A (p.Arg2=) n.3919C>A | ClinVar dbSNP gnomAD v4 |
| 10 | g.71725422C= | CA1918845249 | C10orf105,CDH23 | c.3481C= (p.Arg1161=) c.3478C= (p.Arg1160=) c.3496C= (p.Arg1166=) c.-5-9080G= (n.-5-9080G=) n.271+1317C= c.3676C= (p.Arg1226=) c.3610C= (p.Arg1204=) c.-6+985G= (n.-6+985G=) c.3670C= (p.Arg1224=) c.3616C= (p.Arg1206=) c.3541C= (p.Arg1181=) c.3136C= (p.Arg1046=) c.2494C= (p.Arg832=) c.4C= (p.Arg2=) n.3919C= | dbSNP |