| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.765564C>A | CA339792 | SLC52A3 | c.211G>T (p.Glu71Ter) n.262G>T | ClinVar dbSNP gnomAD v4 |
| 20 | g.765564C>T | CA346975 | SLC52A3 | c.211G>A (p.Glu71Lys) n.262G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 20 | g.765564C= | CA2345350197 | SLC52A3 | c.211G= (p.Glu71=) n.262G= | dbSNP |