Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.24905874_24905877del | CA608986608 | CENPJ | c.2165_2168del (p.Glu722GlyfsTer?) n.2360_2363del n.2332_2335del | dbSNP gnomAD v2 gnomAD v4 |
13 | g.24905876_24905877del | CA16619621 | CENPJ | c.2167_2168del (p.Arg723GlyfsTer8) n.2362_2363del n.2334_2335del | ClinVar dbSNP gnomAD v4 |