Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154928694T>G | CA414913959 | F8 | c.5096A>C (p.Tyr1699Ser) c.4991A>C (p.Tyr1664Ser) | ClinVar dbSNP |
X | g.154928694T>C | CA414913958 | F8 | c.5096A>G (p.Tyr1699Cys) c.4991A>G (p.Tyr1664Cys) | dbSNP |
X | g.154928694T>A | CA255022 | F8 | c.5096A>T (p.Tyr1699Phe) c.4991A>T (p.Tyr1664Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |