| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154352226G>C | CA415189595 | FLNA | c.6700C>G (p.Arg2234Gly) c.6724C>G (p.Arg2242Gly) c.6643C>G (p.Arg2215Gly) c.3505C>G (p.Arg1169Gly) c.6781C>G (n.6781C>G) c.280-3536C>G c.7003C>G (n.7003C>G) n.1903C>G c.6604C>G (p.Arg2202Gly) c.6680C>G (n.6680C>G) c.544C>G (p.Arg182Gly) n.357C>G n.2713C>G n.67+591C>G c.5845-276C>G (n.5845-276C>G) c.6628C>G (p.Arg2210Gly) c.6550C>G (p.Arg2184Gly) c.6526C>G (p.Arg2176Gly) c.6523C>G (p.Arg2175Gly) | dbSNP gnomAD v4 |
| X | g.154352226G>A | CA16616627 | FLNA | c.6700C>T (p.Arg2234Ter) c.6724C>T (p.Arg2242Ter) c.6643C>T (p.Arg2215Ter) c.3505C>T (p.Arg1169Ter) c.6781C>T (n.6781C>T) c.280-3536C>T c.7003C>T (n.7003C>T) n.1903C>T c.6604C>T (p.Arg2202Ter) c.6680C>T (n.6680C>T) c.544C>T (p.Arg182Ter) n.357C>T n.2713C>T n.67+591C>T c.5845-276C>T (n.5845-276C>T) c.6628C>T (p.Arg2210Ter) c.6550C>T (p.Arg2184Ter) c.6526C>T (p.Arg2176Ter) c.6523C>T (p.Arg2175Ter) | ClinVar dbSNP COSMIC COSMIC |