Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154997086C>G | CA414920111 | F8 | c.275G>C (p.Gly92Ala) c.*61G>C (n.*61G>C) c.170G>C (p.Gly57Ala) c.257G>C (p.Gly86Ala) | dbSNP |
X | g.154997086C>A | CA255053 | F8 | c.275G>T (p.Gly92Val) c.*61G>T (n.*61G>T) c.170G>T (p.Gly57Val) c.257G>T (p.Gly86Val) | ClinVar dbSNP |