| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.52029784A>C | CA119856 | SGCB | c.323T>G (p.Leu108Arg) c.406T>G c.400T>G (n.400T>G) c.26T>G (p.Leu9Arg) c.113T>G (p.Leu38Arg) | ClinVar dbSNP |
| 4 | g.52029784A= | CA1457429997 | SGCB | c.323T= (p.Leu108=) c.406T= c.400T= (n.400T=) c.26T= (p.Leu9=) c.113T= (p.Leu38=) | dbSNP |