| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.148120320A>T | CA10602948 | SPINK5 | c.2467A>T (p.Lys823Ter) c.2410A>T (p.Lys804Ter) c.2383A>T (p.Lys795Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.148120320A>C | CA361646590 | SPINK5 | c.2467A>C (p.Lys823Gln) c.2410A>C (p.Lys804Gln) c.2383A>C (p.Lys795Gln) | dbSNP gnomAD v4 |
| 5 | g.148120320A= | CA1589897952 | SPINK5 | c.2467A= (p.Lys823=) c.2410A= (p.Lys804=) c.2383A= (p.Lys795=) | dbSNP |