| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.148100464G>A | CA3495482 | SPINK5 | n.712G>A c.1103G>A (p.Ser368Asn) n.619G>A n.1267G>A c.1046G>A (p.Ser349Asn) c.1019G>A (p.Ser340Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.148100464G= | CA1589888383 | SPINK5 | n.712G= c.1103G= (p.Ser368=) n.619G= n.1267G= c.1046G= (p.Ser349=) c.1019G= (p.Ser340=) | dbSNP |