| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.103897558G>T | CA378044827 | STN1 | c.743C>A (p.Ser248Tyr) c.*192C>A (n.*192C>A) c.245C>A (p.Ser82Tyr) c.*580C>A (n.*580C>A) c.647C>A (p.Ser216Tyr) n.921C>A n.480C>A | dbSNP gnomAD v4 |
| 10 | g.103897558G>A | CA378044829 | STN1 | c.743C>T (p.Ser248Phe) c.*192C>T (n.*192C>T) c.245C>T (p.Ser82Phe) c.*580C>T (n.*580C>T) c.647C>T (p.Ser216Phe) n.921C>T n.480C>T | dbSNP gnomAD v4 |
| 10 | g.103897558G>C | CA5676531 | STN1 | c.743C>G (p.Ser248Cys) c.*192C>G (n.*192C>G) c.245C>G (p.Ser82Cys) c.*580C>G (n.*580C>G) c.647C>G (p.Ser216Cys) n.921C>G n.480C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |