| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.144416001G>A | CA116339 | SLC39A4 | c.283C>T (p.Arg95Cys) c.208C>T (p.Arg70Cys) c.193-582C>T (n.193-582C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.144416001G>T | CA187650697 | SLC39A4 | c.283C>A (p.Arg95Ser) c.208C>A (p.Arg70Ser) c.193-582C>A (n.193-582C>A) | dbSNP gnomAD v4 |