Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.169560588C>T | CA1234586 | F5 | c.552G>A (p.Ser184=) c.141G>A (p.Ser47=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169560588C>A | CA1234585 | F5 | c.552G>T (p.Ser184=) c.141G>T (p.Ser47=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169560588C>G | CA32396242 | F5 | c.552G>C (p.Ser184=) c.141G>C (p.Ser47=) | dbSNP gnomAD v4 |