| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189565568C>T | CA430502844 | SLC40A1 | c.546G>A (p.Gln182=) c.426G>A (p.Gln142=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189565568C>A | CA117521 | SLC40A1 | c.546G>T (p.Gln182His) c.426G>T (p.Gln142His) | ClinVar dbSNP |
| 2 | g.189565568C= | CA1315645059 | SLC40A1 | c.546G= (p.Gln182=) c.426G= (p.Gln142=) | dbSNP |