| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94304471C>T | CA127009 | SERPINA6 | c.1165G>A (p.Asp389Asn) c.*477G>A (n.*477G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94304471C>G | CA390848764 | SERPINA6 | c.1165G>C (p.Asp389His) c.*477G>C (n.*477G>C) | dbSNP gnomAD v4 |
| 14 | g.94304471C= | CA2155918456 | SERPINA6 | c.1165G= (p.Asp389=) c.*477G= (n.*477G=) | dbSNP |