| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.197402637T>C | CA16602477 | SF3B1 | c.1996A>G (p.Lys666Glu) n.3880A>G c.*3063A>G (n.*3063A>G) c.*2255A>G (n.*2255A>G) c.1558A>G (p.Lys520Glu) n.2088A>G n.2041A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.197402637T>G | CA2042628 | SF3B1 | c.1996A>C (p.Lys666Gln) n.3880A>C c.*3063A>C (n.*3063A>C) c.*2255A>C (n.*2255A>C) c.1558A>C (p.Lys520Gln) n.2088A>C n.2041A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |