| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.62616748C>T | CA6050037 | B3GAT3 | c.667G>A (p.Gly223Ser) c.*789G>A (n.*789G>A) n.517G>A c.646G>A (p.Gly216Ser) n.885G>A n.696G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62616748C= | CA1977848146 | B3GAT3 | c.667G= (p.Gly223=) c.*789G= (n.*789G=) n.517G= c.646G= (p.Gly216=) n.885G= n.696G= | dbSNP |