| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.129212026C>T | CA163025 | SMO | c.1939C>T (p.Pro647Ser) c.*1694C>T (n.*1694C>T) c.456C>T (n.456C>T) c.1549C>T (p.Pro517Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.129212026C>G | CA369250216 | SMO | c.1939C>G (p.Pro647Ala) c.*1694C>G (n.*1694C>G) c.456C>G (n.456C>G) c.1549C>G (p.Pro517Ala) | dbSNP |
| 7 | g.129212026C>A | CA166269440 | SMO | c.1939C>A (p.Pro647Thr) c.*1694C>A (n.*1694C>A) c.456C>A (n.456C>A) c.1549C>A (p.Pro517Thr) | dbSNP gnomAD v4 |