| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.155118765G>C | CA2675238 | MME | c.674G>C (p.Gly225Ala) n.517G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.155118765G>A | CA355128426 | MME | c.674G>A (p.Gly225Asp) n.517G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.155118765G= | CA1412788817 | MME | c.674G= (p.Gly225=) n.517G= | dbSNP |