| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.52033589T>A | CA2918507 | SGCB | c.85A>T (p.Arg29Ter) c.71A>T c.52A>T (p.Arg18Ter) c.34-3726A>T (n.34-3726A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.52033589T= | CA1457431781 | SGCB | c.85A= (p.Arg29=) c.71A= c.52A= (p.Arg18=) c.34-3726A= (n.34-3726A=) | dbSNP dbSNP |