| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.169542517T>C | CA1234067 | F5 | c.2573A>G (p.Lys858Arg) c.2588A>G (p.Lys863Arg) c.2162A>G (p.Lys721Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169542517T= | CA1139772846 | F5 | c.2573A= (p.Lys858=) c.2588A= (p.Lys863=) c.2162A= (p.Lys721=) | dbSNP |
| 1 | g.169542517T>G | CA343120615 | F5 | c.2573A>C (p.Lys858Thr) c.2588A>C (p.Lys863Thr) c.2162A>C (p.Lys721Thr) | dbSNP |
| 1 | g.169542517T>A | CA343120617 | F5 | c.2573A>T (p.Lys858Ile) c.2588A>T (p.Lys863Ile) c.2162A>T (p.Lys721Ile) | dbSNP |