| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.148070377C>T | CA10588394 | SPINK5 | c.136C>T (p.Gln46Ter) n.300C>T c.82-3C>T (n.82-3C>T) c.52C>T (p.Gln18Ter) | ClinVar dbSNP |
| 5 | g.148070377C= | CA1589876992 | SPINK5 | c.136C= (p.Gln46=) n.300C= c.82-3C= (n.82-3C=) c.52C= (p.Gln18=) | dbSNP |