| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.49619062G>A | CA500806644 | SPOP | c.399C>T (p.Phe133=) c.*248C>T (n.*248C>T) c.*342C>T (n.*342C>T) c.118C>T | dbSNP gnomAD v4 |
| 17 | g.49619062G>T | CA400156688 | SPOP | c.399C>A (p.Phe133Leu) c.*248C>A (n.*248C>A) c.*342C>A (n.*342C>A) c.118C>A | dbSNP COSMIC |
| 17 | g.49619062G>C | CA214526 | SPOP | c.399C>G (p.Phe133Leu) c.*248C>G (n.*248C>G) c.*342C>G (n.*342C>G) c.118C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |