| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.33800569C>G | CA7150966 | NPAS3 | c.2262C>G (p.Ser754=) c.2271C>G (p.Ser757=) c.2162C>G c.793+2988C>G c.2166C>G (p.Ser722=) c.2223C>G (p.Ser741=) c.2172C>G (p.Ser724=) c.2277C>G (p.Ser759=) c.2184C>G (p.Ser728=) c.2283C>G (p.Ser761=) c.2313C>G (p.Ser771=) c.2304C>G (p.Ser768=) c.2274C>G (p.Ser758=) c.2217C>G (p.Ser739=) c.2163C>G (p.Ser721=) c.1956C>G (p.Ser652=) c.2370C>G (p.Ser790=) c.2364C>G (p.Ser788=) c.2361C>G (p.Ser787=) c.2421C>G (p.Ser807=) c.2412C>G (p.Ser804=) c.2331C>G (p.Ser777=) c.2280C>G (p.Ser760=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800569C>T | CA486093415 | NPAS3 | c.2262C>T (p.Ser754=) c.2271C>T (p.Ser757=) c.2162C>T c.793+2988C>T c.2166C>T (p.Ser722=) c.2223C>T (p.Ser741=) c.2172C>T (p.Ser724=) c.2277C>T (p.Ser759=) c.2184C>T (p.Ser728=) c.2283C>T (p.Ser761=) c.2313C>T (p.Ser771=) c.2304C>T (p.Ser768=) c.2274C>T (p.Ser758=) c.2217C>T (p.Ser739=) c.2163C>T (p.Ser721=) c.1956C>T (p.Ser652=) c.2370C>T (p.Ser790=) c.2364C>T (p.Ser788=) c.2361C>T (p.Ser787=) c.2421C>T (p.Ser807=) c.2412C>T (p.Ser804=) c.2331C>T (p.Ser777=) c.2280C>T (p.Ser760=) | dbSNP gnomAD v4 |