| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.129210997G>T | CA369247664 | SMO | c.1685G>T (p.Arg562Leu) c.*1440G>T (n.*1440G>T) c.656G>T c.74G>T (p.Arg25Leu) c.1295G>T (p.Arg432Leu) | dbSNP |
| 7 | g.129210997G>A | CA119304 | SMO | c.1685G>A (p.Arg562Gln) c.*1440G>A (n.*1440G>A) c.656G>A c.74G>A (p.Arg25Gln) c.1295G>A (p.Arg432Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.129210997G>C | CA369247661 | SMO | c.1685G>C (p.Arg562Pro) c.*1440G>C (n.*1440G>C) c.656G>C c.74G>C (p.Arg25Pro) c.1295G>C (p.Arg432Pro) | dbSNP |