Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.49619068C>G | CA400156698 | SPOP | c.393G>C (p.Trp131Cys) c.*242G>C (n.*242G>C) c.*336G>C (n.*336G>C) c.112G>C | dbSNP COSMIC |
17 | g.49619068C>A | CA16602978 | SPOP | c.393G>T (p.Trp131Cys) c.*242G>T (n.*242G>T) c.*336G>T (n.*336G>T) c.112G>T | ClinVar dbSNP COSMIC |
17 | g.49619068C>T | CA400156697 | SPOP | c.393G>A (p.Trp131Ter) c.*242G>A (n.*242G>A) c.*336G>A (n.*336G>A) c.112G>A | dbSNP gnomAD v4 |