| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127824342C>T | CA5252882 | ENG | c.550G>A (p.Asp184Asn) c.1096G>A (p.Asp366Asn) n.64G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127824342C>G | CA295468 | ENG | c.550G>C (p.Asp184His) c.1096G>C (p.Asp366His) n.64G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824342C= | CA1879972513 | ENG | c.550G= (p.Asp184=) c.1096G= (p.Asp366=) n.64G= | dbSNP |