| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.49619064A>C | CA16602971 | SPOP | c.397T>G (p.Phe133Val) c.*246T>G (n.*246T>G) c.*340T>G (n.*340T>G) c.116T>G | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.49619064A>G | CA400156690 | SPOP | c.397T>C (p.Phe133Leu) c.*246T>C (n.*246T>C) c.*340T>C (n.*340T>C) c.116T>C | ClinVar dbSNP COSMIC |
| 17 | g.49619064A>T | CA16602974 | SPOP | c.397T>A (p.Phe133Ile) c.*246T>A (n.*246T>A) c.*340T>A (n.*340T>A) c.116T>A | ClinVar dbSNP COSMIC |