| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.74719071G>A | CA259927 | FA2H | c.703C>T (p.Arg235Cys) c.453C>T (p.Thr151=) c.505C>T (p.Arg169Cys) c.463C>T (p.Arg155Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.74719071G= | CA2232953694 | FA2H | c.703C= (p.Arg235=) c.453C= (p.Thr151=) c.505C= (p.Arg169=) c.463C= (p.Arg155=) | dbSNP |