| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189564186C>T | CA117529 | SLC40A1 | c.800G>A (p.Gly267Asp) c.680G>A (p.Gly227Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189564186C>A | CA349988392 | SLC40A1 | c.800G>T (p.Gly267Val) c.680G>T (p.Gly227Val) | dbSNP |
| 2 | g.189564186C= | CA1315654488 | SLC40A1 | c.800G= (p.Gly267=) c.680G= (p.Gly227=) | dbSNP |