| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.99881329G>A | CA114755 | AGL | c.2039G>A (p.Trp680Ter) n.2250G>A c.1991G>A (p.Trp664Ter) c.1988G>A (p.Trp663Ter) c.299G>A (p.Trp100Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881329G= | CA1141373047 | AGL | c.2039G= (p.Trp680=) n.2250G= c.1991G= (p.Trp664=) c.1988G= (p.Trp663=) c.299G= (p.Trp100=) | dbSNP |