Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.58130810T>G | CA341840 | FLNB | n.4435T>G c.4292T>G (p.Leu1431Arg) c.*2824T>G (n.*2824T>G) c.3785T>G (p.Leu1262Arg) n.4437T>G | ClinVar dbSNP |
3 | g.58130810T= | CA1367510114 | FLNB | n.4435T= c.4292T= (p.Leu1431=) c.*2824T= (n.*2824T=) c.3785T= (p.Leu1262=) n.4437T= | dbSNP |