| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.95461858G>C | CA374113280 | PTCH1 | c.2503C>G (p.Gln835Glu) c.2698C>G (p.Gln900Glu) c.*1009C>G (n.*1009C>G) c.2248C>G (p.Gln750Glu) n.32C>G c.2701C>G (p.Gln901Glu) c.2470C>G (n.2470C>G) c.2545C>G (p.Gln849Glu) c.1861C>G (p.Gln621Glu) n.2723C>G n.3440C>G | dbSNP |
| 9 | g.95461858G>A | CA16618904 | PTCH1 | c.2503C>T (p.Gln835Ter) c.2698C>T (p.Gln900Ter) c.*1009C>T (n.*1009C>T) c.2248C>T (p.Gln750Ter) n.32C>T c.2701C>T (p.Gln901Ter) c.2470C>T (n.2470C>T) c.2545C>T (p.Gln849Ter) c.1861C>T (p.Gln621Ter) n.2723C>T n.3440C>T | ClinVar dbSNP |