| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.103898989C>T | CA5676601 | STN1 | c.469G>A (p.Asp157Asn) c.-30G>A (n.-30G>A) c.*306G>A (n.*306G>A) c.373G>A (p.Asp125Asn) n.562G>A n.206G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.103898989C>A | CA5676602 | STN1 | c.469G>T (p.Asp157Tyr) c.-30G>T (n.-30G>T) c.*306G>T (n.*306G>T) c.373G>T (p.Asp125Tyr) n.562G>T n.206G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |