| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.85328586C>G | CA127302 | CA1 | c.760G>C (p.Gly254Arg) c.509G>C c.358G>C (p.Gly120Arg) c.562G>C (p.Gly188Arg) c.421G>C (p.Gly141Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.85328586C>T | CA371418487 | CA1 | c.760G>A (p.Gly254Ser) c.509G>A c.358G>A (p.Gly120Ser) c.562G>A (p.Gly188Ser) c.421G>A (p.Gly141Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |