| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.169542496T>G | CA343120541 | F5 | c.2594A>C (p.His865Pro) c.2609A>C (p.His870Pro) c.2183A>C (p.His728Pro) | dbSNP gnomAD v4 |
| 1 | g.169542496T>C | CA1234065 | F5 | c.2594A>G (p.His865Arg) c.2609A>G (p.His870Arg) c.2183A>G (p.His728Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |