| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.136207917T>G | CA414608572 | FHL1 | c.505T>G (p.Cys169Gly) c.457T>G (p.Cys153Gly) c.544T>G (p.Cys182Gly) n.161T>G c.457T>G n.507T>G n.868T>G | ClinVar dbSNP |
| X | g.136207917T>A | CA414608571 | FHL1 | c.505T>A (p.Cys169Ser) c.457T>A (p.Cys153Ser) c.544T>A (p.Cys182Ser) n.161T>A c.457T>A n.507T>A n.868T>A | ClinVar dbSNP |
| X | g.136207917T>C | CA121548 | FHL1 | c.505T>C (p.Cys169Arg) c.457T>C (p.Cys153Arg) c.544T>C (p.Cys182Arg) n.161T>C c.457T>C n.507T>C n.868T>C | ClinVar dbSNP |