| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.95453587T>A | CA119388 | PTCH1 | c.3142A>T (p.Arg1048Trp) c.3337A>T (p.Arg1113Trp) c.*1648A>T (n.*1648A>T) c.2887A>T (p.Arg963Trp) n.671A>T c.3340A>T (p.Arg1114Trp) c.3109A>T (n.3109A>T) c.3184A>T (p.Arg1062Trp) c.2500A>T (p.Arg834Trp) n.3362A>T n.4079A>T | ClinVar dbSNP COSMIC |
| 9 | g.95453587T>G | CA466108067 | PTCH1 | c.3142A>C (p.Arg1048=) c.3337A>C (p.Arg1113=) c.*1648A>C (n.*1648A>C) c.2887A>C (p.Arg963=) n.671A>C c.3340A>C (p.Arg1114=) c.3109A>C (n.3109A>C) c.3184A>C (p.Arg1062=) c.2500A>C (p.Arg834=) n.3362A>C n.4079A>C | ClinVar dbSNP |