| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.95469119G>A | CA16612768 | PTCH1 | c.1684C>T (p.Gln562Ter) c.1879C>T (p.Gln627Ter) c.*190C>T (n.*190C>T) c.1429C>T (p.Gln477Ter) c.1882C>T (p.Gln628Ter) c.877C>T (p.Gln293Ter) c.1651C>T (n.1651C>T) n.71C>T n.1057G>A c.1726C>T (p.Gln576Ter) c.1042C>T (p.Gln348Ter) n.2070C>T n.2787C>T | ClinVar dbSNP |
| 9 | g.95469119G>C | CA374116125 | PTCH1 | c.1684C>G (p.Gln562Glu) c.1879C>G (p.Gln627Glu) c.*190C>G (n.*190C>G) c.1429C>G (p.Gln477Glu) c.1882C>G (p.Gln628Glu) c.877C>G (p.Gln293Glu) c.1651C>G (n.1651C>G) n.71C>G n.1057G>C c.1726C>G (p.Gln576Glu) c.1042C>G (p.Gln348Glu) n.2070C>G n.2787C>G | dbSNP |