Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154904999G>A | CA255163 | F8 | c.5398C>T (p.Arg1800Cys) c.5293C>T (p.Arg1765Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154904999G>C | CA255164 | F8 | c.5398C>G (p.Arg1800Gly) c.5293C>G (p.Arg1765Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.154904999G= | CA2466828476 | F8 | c.5398C= (p.Arg1800=) c.5293C= (p.Arg1765=) | dbSNP |