| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.52029808A>T | CA119858 | SGCB | c.299T>A (p.Met100Lys) c.382T>A c.376T>A (n.376T>A) c.2T>A (p.Met1Lys) c.89T>A (p.Met30Lys) | ClinVar dbSNP ExAC gnomAD v4 |
| 4 | g.52029808A= | CA1457430004 | SGCB | c.299T= (p.Met100=) c.382T= c.376T= (n.376T=) c.2T= (p.Met1=) c.89T= (p.Met30=) | dbSNP |