| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.155803523C>G | CA370146109 | SHH | c.766G>C (p.Glu256Gln) c.301+2773G>C (n.301+2773G>C) n.471+2773G>C c.505G>C (p.Glu169Gln) c.427G>C (p.Glu143Gln) n.562+2773G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.155803523C>A | CA340844 | SHH | c.766G>T (p.Glu256Ter) c.301+2773G>T (n.301+2773G>T) n.471+2773G>T c.505G>T (p.Glu169Ter) c.427G>T (p.Glu143Ter) n.562+2773G>T | ClinVar dbSNP gnomAD v4 |