| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.155806475C>T | CA119989 | SHH | c.383G>A (p.Trp128Ter) c.122G>A (p.Trp41Ter) n.292G>A c.44G>A (p.Trp15Ter) n.383G>A | ClinVar dbSNP |
| 7 | g.155806475C= | CA1754773491 | SHH | c.383G= (p.Trp128=) c.122G= (p.Trp41=) n.292G= c.44G= (p.Trp15=) n.383G= | dbSNP |
| 7 | g.155806475C>G | CA370149279 | SHH | c.383G>C (p.Trp128Ser) c.122G>C (p.Trp41Ser) n.292G>C c.44G>C (p.Trp15Ser) n.383G>C | dbSNP |