| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.155803613C>T | CA340834 | SHH | c.676G>A (p.Ala226Thr) c.301+2683G>A (n.301+2683G>A) n.471+2683G>A c.415G>A (p.Ala139Thr) c.337G>A (p.Ala113Thr) n.562+2683G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.155803613C= | CA1754768931 | SHH | c.676G= (p.Ala226=) c.301+2683G= (n.301+2683G=) n.471+2683G= c.415G= (p.Ala139=) c.337G= (p.Ala113=) n.562+2683G= | dbSNP |