Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80099700C>A | CA275098 | CCDC40 | c.3354C>A (p.Tyr1118Ter) n.2891C>A c.3264C>A (p.Tyr1088Ter) c.2175C>A (p.Tyr725Ter) n.3472C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80099700C>T | CA8814713 | CCDC40 | c.3354C>T (p.Tyr1118=) n.2891C>T c.3264C>T (p.Tyr1088=) c.2175C>T (p.Tyr725=) n.3472C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |