| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.57198277G>T | CA353400378 | HESX1 | c.478C>A (p.Arg160Ser) c.376C>A (p.Arg126Ser) n.971C>A | dbSNP |
| 3 | g.57198277G>A | CA118999 | HESX1 | c.478C>T (p.Arg160Cys) c.376C>T (p.Arg126Cys) n.971C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.57198277G= | CA1367090047 | HESX1 | c.478C= (p.Arg160=) c.376C= (p.Arg126=) n.971C= | dbSNP |