| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.155806509A>C | CA340831 | SHH | c.349T>G (p.Trp117Gly) c.88T>G (p.Trp30Gly) n.258T>G c.10T>G (p.Trp4Gly) n.349T>G | ClinVar dbSNP |
| 7 | g.155806509A>G | CA340832 | SHH | c.349T>C (p.Trp117Arg) c.88T>C (p.Trp30Arg) n.258T>C c.10T>C (p.Trp4Arg) n.349T>C | ClinVar dbSNP |
| 7 | g.155806509A= | CA1754773573 | SHH | c.349T= (p.Trp117=) c.88T= (p.Trp30=) n.258T= c.10T= (p.Trp4=) n.349T= | dbSNP |