| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.95467285G>A | CA5138405 | PTCH1 | c.2193C>T (p.Tyr731=) c.2388C>T (p.Tyr796=) c.*699C>T (n.*699C>T) c.1938C>T (p.Tyr646=) c.2391C>T (p.Tyr797=) c.2160C>T (n.2160C>T) n.482-47G>A c.2235C>T (p.Tyr745=) c.1551C>T (p.Tyr517=) n.2439-26C>T n.3156-26C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.95467285G>C | CA374114377 | PTCH1 | c.2193C>G (p.Tyr731Ter) c.2388C>G (p.Tyr796Ter) c.*699C>G (n.*699C>G) c.1938C>G (p.Tyr646Ter) c.2391C>G (p.Tyr797Ter) c.2160C>G (n.2160C>G) n.482-47G>C c.2235C>G (p.Tyr745Ter) c.1551C>G (p.Tyr517Ter) n.2439-26C>G n.3156-26C>G | dbSNP |
| 9 | g.95467285G>T | CA10582679 | PTCH1 | c.2193C>A (p.Tyr731Ter) c.2388C>A (p.Tyr796Ter) c.*699C>A (n.*699C>A) c.1938C>A (p.Tyr646Ter) c.2391C>A (p.Tyr797Ter) c.2160C>A (n.2160C>A) n.482-47G>T c.2235C>A (p.Tyr745Ter) c.1551C>A (p.Tyr517Ter) n.2439-26C>A n.3156-26C>A | ClinVar dbSNP |