| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44065510del | CA4236697 | DBNL,PGAM2 | c.20del (p.Val7GlyfsTer24) c.*4594del (n.*4594del) c.5672del n.83del n.82del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44065510A= | CA3146166296 | DBNL,PGAM2 | c.20T= (p.Val7=) c.*4594A= (n.*4594A=) c.5672A= n.83A= n.82A= | dbSNP |