| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.145674dup | CA920148173 | DEFB126 | c.318dup (p.Val107ArgfsTer?) n.223dup | dbSNP |
| 20 | g.145672_145674del | CA645615193 | DEFB126 | c.316_318del (p.Pro106del) n.221_223del | dbSNP COSMIC |
| 20 | g.145674del | CA920148172 | DEFB126 | c.318del (p.Val107PhefsTer15) n.223del | dbSNP gnomAD v4 |
| 20 | g.145673_145674del | CA9721004 | DEFB126 | c.317_318del (p.Pro106ArgfsTer?) n.222_223del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |