| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.94426012del | CA16618577 | COL1A2 | c.2958del (p.Val987LeufsTer?) n.517del n.2931del c.2952del (p.Val985LeufsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.94426012T= | CA3146465397 | COL1A2 | c.2958T= (p.Pro986=) n.517T= n.2931T= c.2952T= (p.Pro984=) | dbSNP dbSNP |