| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.42249565G>A | CA249528 | ERF | c.547C>T (p.Arg183Ter) c.322C>T (p.Arg108Ter) c.22+5413C>T (n.22+5413C>T) n.520C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.42249565G>C | CA406112825 | ERF | c.547C>G (p.Arg183Gly) c.322C>G (p.Arg108Gly) c.22+5413C>G (n.22+5413C>G) n.520C>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.42249565G= | CA2336849524 | ERF | c.547C= (p.Arg183=) c.322C= (p.Arg108=) c.22+5413C= (n.22+5413C=) n.520C= | dbSNP |