| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.95476835C>T | CA16612860 | PTCH1 | c.1328G>A (p.Gly443Asp) c.1523G>A (p.Gly508Asp) c.1073G>A (p.Gly358Asp) c.1526G>A (p.Gly509Asp) c.521G>A (p.Gly174Asp) c.1163G>A (p.Gly388Asp) c.1370G>A (p.Gly457Asp) c.686G>A (p.Gly229Asp) n.1714G>A n.2431G>A | ClinVar dbSNP gnomAD v4 |
| 9 | g.95476835C>G | CA374118310 | PTCH1 | c.1328G>C (p.Gly443Ala) c.1523G>C (p.Gly508Ala) c.1073G>C (p.Gly358Ala) c.1526G>C (p.Gly509Ala) c.521G>C (p.Gly174Ala) c.1163G>C (p.Gly388Ala) c.1370G>C (p.Gly457Ala) c.686G>C (p.Gly229Ala) n.1714G>C n.2431G>C | dbSNP |
| 9 | g.95476835C>A | CA374118309 | PTCH1 | c.1328G>T (p.Gly443Val) c.1523G>T (p.Gly508Val) c.1073G>T (p.Gly358Val) c.1526G>T (p.Gly509Val) c.521G>T (p.Gly174Val) c.1163G>T (p.Gly388Val) c.1370G>T (p.Gly457Val) c.686G>T (p.Gly229Val) n.1714G>T n.2431G>T | ClinVar dbSNP |