| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.95458178A>T | CA16612835 | PTCH1 | c.2805T>A (p.Tyr935Ter) c.3000T>A (p.Tyr1000Ter) c.*1311T>A (n.*1311T>A) c.2550T>A (p.Tyr850Ter) n.334T>A c.3003T>A (p.Tyr1001Ter) c.2772T>A (n.2772T>A) n.353T>A c.2847T>A (p.Tyr949Ter) c.2163T>A (p.Tyr721Ter) n.3025T>A n.3742T>A | ClinVar dbSNP |
| 9 | g.95458178A>G | CA466352072 | PTCH1 | c.2805T>C (p.Tyr935=) c.3000T>C (p.Tyr1000=) c.*1311T>C (n.*1311T>C) c.2550T>C (p.Tyr850=) n.334T>C c.3003T>C (p.Tyr1001=) c.2772T>C (n.2772T>C) n.353T>C c.2847T>C (p.Tyr949=) c.2163T>C (p.Tyr721=) n.3025T>C n.3742T>C | ClinVar dbSNP |