| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.232525489C>G | CA129651 | PRSS56 | c.1795C>G (p.Pro599Ala) c.1798C>G (p.Pro600Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232525489C>A | CA66949856 | PRSS56 | c.1795C>A (p.Pro599Thr) c.1798C>A (p.Pro600Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232525489C= | CA1335308966 | PRSS56 | c.1795C= (p.Pro599=) c.1798C= (p.Pro600=) | dbSNP |