| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.241519716G>C | CA319970 | FH | c.7C>G (p.Arg3Gly) n.84C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.241519716G>A | CA321335 | FH | c.7C>T (p.Arg3Ter) n.84C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.241519716G>T | CA424076884 | FH | c.7C>A (p.Arg3=) n.84C>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.241519716G= | CA1143530650 | FH | c.7C= (p.Arg3=) n.84C= | dbSNP |