| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.105228832G>A | CA174014 | BRF1 | c.776C>T (p.Thr259Met) c.431C>T (p.Thr144Met) c.164C>T (p.Thr55Met) c.695C>T (p.Thr232Met) c.62C>T (p.Thr21Met) c.336C>T c.113C>T (p.Thr38Met) c.626C>T (p.Thr209Met) c.263C>T (p.Thr88Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.105228832G= | CA2161203469 | BRF1 | c.776C= (p.Thr259=) c.431C= (p.Thr144=) c.164C= (p.Thr55=) c.695C= (p.Thr232=) c.62C= (p.Thr21=) c.336C= c.113C= (p.Thr38=) c.626C= (p.Thr209=) c.263C= (p.Thr88=) | dbSNP |