| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.31084843G>T | CA395721256 | PRSS53 | c.1216C>A (p.Pro406Thr) n.4083C>A c.1565C>A c.1357C>A (p.Pro453Thr) | dbSNP gnomAD v4 |
| 16 | g.31084843G>C | CA8020709 | PRSS53 | c.1216C>G (p.Pro406Ala) n.4083C>G c.1565C>G c.1357C>G (p.Pro453Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31084843G>A | CA280612726 | PRSS53 | c.1216C>T (p.Pro406Ser) n.4083C>T c.1565C>T c.1357C>T (p.Pro453Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.31084843G= | CA2216879094 | PRSS53 | c.1216C= (p.Pro406=) n.4083C= c.1565C= c.1357C= (p.Pro453=) | dbSNP |