Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.102929477G>T | CA144420 | AMN | c.701G>T (p.Cys234Phe) n.1447G>T n.664G>T c.126+522G>T c.539G>T (p.Cys180Phe) c.797G>T (p.Cys266Phe) | ClinVar dbSNP gnomAD v4 |
14 | g.102929477G>A | CA391082154 | AMN | c.701G>A (p.Cys234Tyr) n.1447G>A n.664G>A c.126+522G>A c.539G>A (p.Cys180Tyr) c.797G>A (p.Cys266Tyr) | dbSNP |