| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189564018C>A | CA117523 | SLC40A1 | c.968G>T (p.Gly323Val) c.848G>T (p.Gly283Val) | ClinVar dbSNP |
| 2 | g.189564018C>T | CA349988018 | SLC40A1 | c.968G>A (p.Gly323Asp) c.848G>A (p.Gly283Asp) | ClinVar dbSNP |
| 2 | g.189564018C= | CA1315654296 | SLC40A1 | c.968G= (p.Gly323=) c.848G= (p.Gly283=) | dbSNP |