| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.155806384G>C | CA345206 | SHH | c.474C>G (p.Tyr158Ter) c.213C>G (p.Tyr71Ter) n.383C>G c.135C>G (p.Tyr45Ter) n.474C>G | ClinVar dbSNP |
| 7 | g.155806384G>A | CA4587019 | SHH | c.474C>T (p.Tyr158=) c.213C>T (p.Tyr71=) n.383C>T c.135C>T (p.Tyr45=) n.474C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |