| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.95476076G>A | CA5138585 | PTCH1 | c.1488C>T (p.Ala496=) c.1683C>T (p.Ala561=) c.1233C>T (p.Ala411=) c.1686C>T (p.Ala562=) c.681C>T (p.Ala227=) c.1323C>T (p.Ala441=) c.1530C>T (p.Ala510=) c.846C>T (p.Ala282=) n.1874C>T n.2591C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.95476076G>C | CA466117721 | PTCH1 | c.1488C>G (p.Ala496=) c.1683C>G (p.Ala561=) c.1233C>G (p.Ala411=) c.1686C>G (p.Ala562=) c.681C>G (p.Ala227=) c.1323C>G (p.Ala441=) c.1530C>G (p.Ala510=) c.846C>G (p.Ala282=) n.1874C>G n.2591C>G | ClinVar dbSNP gnomAD v4 |