| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.148123916T>A | CA16604889 | SPINK5 | c.2622T>A (p.Tyr874Ter) c.2565T>A (p.Tyr855Ter) c.2538T>A (p.Tyr846Ter) | ClinVar dbSNP |
| 5 | g.148123916T>C | CA446937438 | SPINK5 | c.2622T>C (p.Tyr874=) c.2565T>C (p.Tyr855=) c.2538T>C (p.Tyr846=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |