Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154860588C>A | CA255218 | F8 | c.6744G>T (p.Trp2248Cys) c.477G>T (p.Trp159Cys) c.339G>T (p.Trp113Cys) c.6639G>T (p.Trp2213Cys) | ClinVar dbSNP gnomAD v4 |
X | g.154860588C= | CA2466815028 | F8 | c.6744G= (p.Trp2248=) c.477G= (p.Trp159=) c.339G= (p.Trp113=) c.6639G= (p.Trp2213=) | dbSNP |