Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154837697G>C | CA414897362 | F8 | c.6956C>G (p.Pro2319Arg) c.689C>G (p.Pro230Arg) c.551C>G (p.Pro184Arg) c.6851C>G (p.Pro2284Arg) | dbSNP COSMIC COSMIC |
X | g.154837697G>A | CA255224 | F8 | c.6956C>T (p.Pro2319Leu) c.689C>T (p.Pro230Leu) c.551C>T (p.Pro184Leu) c.6851C>T (p.Pro2284Leu) | ClinVar dbSNP gnomAD v4 |