| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.36519109dup | CA120030 | NKX2-1,SFTA3 | c.254dup (p.Tyr86LeufsTer?) c.344dup (p.Tyr116LeufsTer?) n.54+364dup c.*381dup (n.*381dup) c.-283+364dup (n.-283+364dup) c.-237+364dup (n.-237+364dup) n.89+364dup | ClinVar dbSNP gnomAD v4 |
| 14 | g.36519109del | CA613804717 | NKX2-1,SFTA3 | c.254del (p.Gly85AlafsTer10) c.344del (p.Gly115AlafsTer10) n.54+364del c.*381del (n.*381del) c.-283+364del (n.-283+364del) c.-237+364del (n.-237+364del) n.89+364del | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |