Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.26242051T>G | CA734478125 | CEP85 | c.56-2115T>G (n.56-2115T>G) c.55+2213T>G (n.55+2213T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.26242051T>C | CA10834814 | CEP85 | c.56-2115T>C (n.56-2115T>C) c.55+2213T>C (n.55+2213T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |