Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.97598784T>G | CA203940 | HOGA1 | c.221T>G (p.Val74Gly) c.212-3073T>G (n.212-3073T>G) n.602T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.97598784T>C | CA377976721 | HOGA1 | c.221T>C (p.Val74Ala) c.212-3073T>C (n.212-3073T>C) n.602T>C | ClinVar dbSNP |
10 | g.97598784T= | CA1930504626 | HOGA1 | c.221T= (p.Val74=) c.212-3073T= (n.212-3073T=) n.602T= | dbSNP |