| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.80302673C>T | CA10607013 | OTOGL | c.3103C>T (p.Gln1035Ter) c.2968C>T (p.Gln990Ter) c.3076C>T (p.Gln1026Ter) c.3127C>T (p.Gln1043Ter) c.2974C>T (p.Gln992Ter) c.2761C>T (p.Gln921Ter) c.2941C>T (p.Gln981Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.80302673C= | CA2049182448 | OTOGL | c.3103C= (p.Gln1035=) c.2968C= (p.Gln990=) c.3076C= (p.Gln1026=) c.3127C= (p.Gln1043=) c.2974C= (p.Gln992=) c.2761C= (p.Gln921=) c.2941C= (p.Gln981=) | dbSNP |