| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.80229341C>T | CA130552 | OTOGL | c.574C>T (p.Arg192Ter) n.1234C>T c.547C>T (p.Arg183Ter) c.598C>T (p.Arg200Ter) c.445C>T (p.Arg149Ter) c.232C>T (p.Arg78Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.80229341C= | CA2049149003 | OTOGL | c.574C= (p.Arg192=) n.1234C= c.547C= (p.Arg183=) c.598C= (p.Arg200=) c.445C= (p.Arg149=) c.232C= (p.Arg78=) | dbSNP |