| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132888250G>T | CA16042706 | TG | c.2443G>T (p.Gly815Ter) c.2182G>T (p.Gly728Ter) | ClinVar dbSNP gnomAD v4 |
| 8 | g.132888250G>A | CA4883405 | TG | c.2443G>A (p.Gly815Arg) c.2182G>A (p.Gly728Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132888250G= | CA1820990069 | TG | c.2443G= (p.Gly815=) c.2182G= (p.Gly728=) | dbSNP |