| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.136207825G>A | CA414608355 | FHL1 | c.413G>A (p.Trp138Ter) c.365G>A (p.Trp122Ter) c.452G>A (p.Trp151Ter) n.69G>A n.415G>A n.776G>A | ClinVar dbSNP |
| X | g.136207825G>C | CA210529 | FHL1 | c.413G>C (p.Trp138Ser) c.365G>C (p.Trp122Ser) c.452G>C (p.Trp151Ser) n.69G>C n.415G>C n.776G>C | ClinVar dbSNP |