| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.128481849G>C | CA354413512 | GATA2 | c.1113C>G (p.Asn371Lys) c.1395C>G (p.Asn465Lys) c.96C>G (p.Asn32Lys) c.1071C>G (p.Asn357Lys) n.230C>G | ClinVar dbSNP |
| 3 | g.128481849G>A | CA2599866 | GATA2 | c.1113C>T (p.Asn371=) c.1395C>T (p.Asn465=) c.96C>T (p.Asn32=) c.1071C>T (p.Asn357=) n.230C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.128481849G>T | CA210024 | GATA2 | c.1113C>A (p.Asn371Lys) c.1395C>A (p.Asn465Lys) c.96C>A (p.Asn32Lys) c.1071C>A (p.Asn357Lys) n.230C>A | ClinVar dbSNP |