| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.129210500G>C | CA369247103 | SMO | c.1604G>C (p.Trp535Ser) c.*1359G>C (n.*1359G>C) c.575G>C c.1214G>C (p.Trp405Ser) | dbSNP |
| 7 | g.129210500G>T | CA119302 | SMO | c.1604G>T (p.Trp535Leu) c.*1359G>T (n.*1359G>T) c.575G>T c.1214G>T (p.Trp405Leu) | ClinVar dbSNP COSMIC |
| 7 | g.129210500G>A | CA369247106 | SMO | c.1604G>A (p.Trp535Ter) c.*1359G>A (n.*1359G>A) c.575G>A c.1214G>A (p.Trp405Ter) | dbSNP |