| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.74719083A>G | CA10583427 | FA2H | c.691T>C (p.Tyr231His) c.441T>C (p.Ser147=) c.493T>C (p.Tyr165His) c.451T>C (p.Tyr151His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.74719083A= | CA2232953721 | FA2H | c.691T= (p.Tyr231=) c.441T= (p.Ser147=) c.493T= (p.Tyr165=) c.451T= (p.Tyr151=) | dbSNP |