| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47410315G>A | CA115360 | SLC39A13 | c.221G>A (p.Gly74Asp) c.266G>A (p.Gly89Asp) n.631G>A n.302G>A n.487G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47410315G>C | CA380309413 | SLC39A13 | c.221G>C (p.Gly74Ala) c.266G>C (p.Gly89Ala) n.631G>C n.302G>C n.487G>C | dbSNP gnomAD v4 |
| 11 | g.47410315G>T | CA380309414 | SLC39A13 | c.221G>T (p.Gly74Val) c.266G>T (p.Gly89Val) n.631G>T n.302G>T n.487G>T | ClinVar dbSNP |