| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.129209348G>C | CA16602418 | SMO | c.1417G>C (p.Asp473His) c.*1221+497G>C (n.*1221+497G>C) c.437+497G>C c.1027G>C (p.Asp343His) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.129209348G>T | CA369246236 | SMO | c.1417G>T (p.Asp473Tyr) c.*1221+497G>T (n.*1221+497G>T) c.437+497G>T c.1027G>T (p.Asp343Tyr) | dbSNP COSMIC |
| 7 | g.129209348G>A | CA162186 | SMO | c.1417G>A (p.Asp473Asn) c.*1221+497G>A (n.*1221+497G>A) c.437+497G>A c.1027G>A (p.Asp343Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |