| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.241519721A>T | CA40338164 | FH | c.2T>A (p.Met1Lys) n.79T>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.241519721A>G | CA1478786 | FH | c.2T>C (p.Met1Thr) n.79T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.241519721A>C | CA345443122 | FH | c.2T>G (p.Met1Arg) n.79T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |