| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.33046137G>A | CA114658 | GLB1 | c.1051C>T (p.Arg351Ter) c.658C>T (p.Arg220Ter) c.961C>T (p.Arg321Ter) n.426C>T n.454C>T n.56C>T c.1195C>T (p.Arg399Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.33046137G= | CA1355998416 | GLB1 | c.1051C= (p.Arg351=) c.658C= (p.Arg220=) c.961C= (p.Arg321=) n.426C= n.454C= n.56C= c.1195C= (p.Arg399=) | dbSNP |