Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.49619280G>C | CA16602970 | SPOP | c.306C>G (p.Phe102Leu) c.*155C>G (n.*155C>G) c.*249C>G (n.*249C>G) c.25C>G | ClinVar dbSNP COSMIC |
17 | g.49619280G>T | CA400156914 | SPOP | c.306C>A (p.Phe102Leu) c.*155C>A (n.*155C>A) c.*249C>A (n.*249C>A) c.25C>A | dbSNP |
17 | g.49619280G>A | CA500807026 | SPOP | c.306C>T (p.Phe102=) c.*155C>T (n.*155C>T) c.*249C>T (n.*249C>T) c.25C>T | dbSNP gnomAD v2 gnomAD v4 |