| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.85894261dup | CA16043323 | CHM | c.1437dup (p.Glu480ArgfsTer12) n.127-31167dup c.1374dup (p.Glu459ArgfsTer12) c.993dup (p.Glu332ArgfsTer12) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.85894261T= | CA2442456236 | CHM | c.1437A= (p.Ala479=) n.127-31167A= c.1374A= (p.Ala458=) c.993A= (p.Ala331=) | dbSNP dbSNP |