Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.6248328C>A | CA362740276 | F13A1 | c.782G>T (p.Arg261Leu) c.944G>T (p.Arg315Leu) | dbSNP |
6 | g.6248328C>G | CA362740277 | F13A1 | c.782G>C (p.Arg261Pro) c.944G>C (p.Arg315Pro) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.6248328C>T | CA126633 | F13A1 | c.782G>A (p.Arg261His) c.944G>A (p.Arg315His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |