| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189571759T>A | CA349989136 | SLC40A1 | c.470A>T (p.Asp157Val) c.350A>T (p.Asp117Val) | dbSNP |
| 2 | g.189571759T>C | CA117519 | SLC40A1 | c.470A>G (p.Asp157Gly) c.350A>G (p.Asp117Gly) | ClinVar dbSNP |
| 2 | g.189571759T= | CA1315650379 | SLC40A1 | c.470A= (p.Asp157=) c.350A= (p.Asp117=) | dbSNP |