| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.21000992T>A | CA389155557 | SLC39A2 | c.343T>A (p.Phe115Ile) c.*80T>A (n.*80T>A) | dbSNP |
| 14 | g.21000992T>C | CA7084829 | SLC39A2 | c.343T>C (p.Phe115Leu) c.*80T>C (n.*80T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.21000992T= | CA2122301455 | SLC39A2 | c.343T= (p.Phe115=) c.*80T= (n.*80T=) | dbSNP |