| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.763775G>A | CA346983 | SLC52A3 | c.796C>T (p.Arg266Trp) c.567+1433C>T (n.567+1433C>T) n.618+1433C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 20 | g.763775G= | CA2345349384 | SLC52A3 | c.796C= (p.Arg266=) c.567+1433C= (n.567+1433C=) n.618+1433C= | dbSNP |
| 20 | g.763775G>T | CA509542393 | SLC52A3 | c.796C>A (p.Arg266=) c.567+1433C>A (n.567+1433C>A) n.618+1433C>A | dbSNP gnomAD v4 |