| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.102923789C>A | CA391079419 | AMN | c.122C>A (p.Thr41Asn) n.868C>A c.-41C>A (n.-41C>A) c.218C>A (p.Thr73Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.102923789C>T | CA117064 | AMN | c.122C>T (p.Thr41Ile) n.868C>T c.-41C>T (n.-41C>T) c.218C>T (p.Thr73Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |