| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.35455919C>A | CA449942462 | FANCE | c.421C>A (p.Arg141=) c.139C>A (p.Arg47=) n.61C>A c.127C>A (p.Arg43=) n.628C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35455919C>G | CA363772874 | FANCE | c.421C>G (p.Arg141Gly) c.139C>G (p.Arg47Gly) n.61C>G c.127C>G (p.Arg43Gly) n.628C>G | dbSNP |
| 6 | g.35455919C>T | CA254531 | FANCE | c.421C>T (p.Arg141Ter) c.139C>T (p.Arg47Ter) n.61C>T c.127C>T (p.Arg43Ter) n.628C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |