| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.155803618A>T | CA340833 | SHH | c.671T>A (p.Val224Glu) c.301+2678T>A (n.301+2678T>A) n.471+2678T>A c.410T>A (p.Val137Glu) c.332T>A (p.Val111Glu) n.562+2678T>A | ClinVar dbSNP |
| 7 | g.155803618A>C | CA370146485 | SHH | c.671T>G (p.Val224Gly) c.301+2678T>G (n.301+2678T>G) n.471+2678T>G c.410T>G (p.Val137Gly) c.332T>G (p.Val111Gly) n.562+2678T>G | dbSNP gnomAD v4 |
| 7 | g.155803618A= | CA1754768949 | SHH | c.671T= (p.Val224=) c.301+2678T= (n.301+2678T=) n.471+2678T= c.410T= (p.Val137=) c.332T= (p.Val111=) n.562+2678T= | dbSNP |