| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.128481940_128481943del | CA2499216452 | GATA2 | c.1021_1024del (p.Ala341ProfsTer?) c.1303_1306del (p.Ala435ProfsTer?) c.4_7del (p.Ala2ProfsTer?) c.1018-39_1018-36del (n.1018-39_1018-36del) n.138_141del | ClinVar dbSNP |
| 3 | g.128481940_128481943dup | CA10576018 | GATA2 | c.1021_1024dup (p.Ala342GlyfsTer?) c.1303_1306dup (p.Ala436GlyfsTer?) c.4_7dup (p.Ala3GlyfsTer?) c.1018-39_1018-36dup (n.1018-39_1018-36dup) n.138_141dup | ClinVar dbSNP |