| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.33800515C>G | CA486093297 | NPAS3 | c.2208C>G (p.Thr736=) c.2217C>G (p.Thr739=) c.2108C>G c.793+2934C>G c.2112C>G (p.Thr704=) c.2169C>G (p.Thr723=) c.2118C>G (p.Thr706=) c.2223C>G (p.Thr741=) c.2130C>G (p.Thr710=) c.2229C>G (p.Thr743=) c.2259C>G (p.Thr753=) c.2250C>G (p.Thr750=) c.2220C>G (p.Thr740=) c.2163C>G (p.Thr721=) c.2109C>G (p.Thr703=) c.1902C>G (p.Thr634=) c.2316C>G (p.Thr772=) c.2310C>G (p.Thr770=) c.2307C>G (p.Thr769=) c.2367C>G (p.Thr789=) c.2358C>G (p.Thr786=) c.2277C>G (p.Thr759=) c.2226C>G (p.Thr742=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800515C>A | CA486093296 | NPAS3 | c.2208C>A (p.Thr736=) c.2217C>A (p.Thr739=) c.2108C>A c.793+2934C>A c.2112C>A (p.Thr704=) c.2169C>A (p.Thr723=) c.2118C>A (p.Thr706=) c.2223C>A (p.Thr741=) c.2130C>A (p.Thr710=) c.2229C>A (p.Thr743=) c.2259C>A (p.Thr753=) c.2250C>A (p.Thr750=) c.2220C>A (p.Thr740=) c.2163C>A (p.Thr721=) c.2109C>A (p.Thr703=) c.1902C>A (p.Thr634=) c.2316C>A (p.Thr772=) c.2310C>A (p.Thr770=) c.2307C>A (p.Thr769=) c.2367C>A (p.Thr789=) c.2358C>A (p.Thr786=) c.2277C>A (p.Thr759=) c.2226C>A (p.Thr742=) | dbSNP gnomAD v4 |
| 14 | g.33800515C>T | CA7150963 | NPAS3 | c.2208C>T (p.Thr736=) c.2217C>T (p.Thr739=) c.2108C>T c.793+2934C>T c.2112C>T (p.Thr704=) c.2169C>T (p.Thr723=) c.2118C>T (p.Thr706=) c.2223C>T (p.Thr741=) c.2130C>T (p.Thr710=) c.2229C>T (p.Thr743=) c.2259C>T (p.Thr753=) c.2250C>T (p.Thr750=) c.2220C>T (p.Thr740=) c.2163C>T (p.Thr721=) c.2109C>T (p.Thr703=) c.1902C>T (p.Thr634=) c.2316C>T (p.Thr772=) c.2310C>T (p.Thr770=) c.2307C>T (p.Thr769=) c.2367C>T (p.Thr789=) c.2358C>T (p.Thr786=) c.2277C>T (p.Thr759=) c.2226C>T (p.Thr742=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |