| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99717219T>G | CA252423 | VPS13B | c.6578T>G (p.Leu2193Arg) n.6648T>G c.*2260T>G (n.*2260T>G) c.6503T>G (p.Leu2168Arg) c.6575T>G (p.Leu2192Arg) c.6500T>G (p.Leu2167Arg) c.6200T>G (p.Leu2067Arg) c.3464T>G (p.Leu1155Arg) c.2357T>G (p.Leu786Arg) c.6383T>G (p.Leu2128Arg) c.2135T>G (p.Leu712Arg) c.5363T>G (p.Leu1788Arg) | ClinVar dbSNP |
| 8 | g.99717219T= | CA3156098646 | VPS13B | c.6578T= (p.Leu2193=) n.6648T= c.*2260T= (n.*2260T=) c.6503T= (p.Leu2168=) c.6575T= (p.Leu2192=) c.6500T= (p.Leu2167=) c.6200T= (p.Leu2067=) c.3464T= (p.Leu1155=) c.2357T= (p.Leu786=) c.6383T= (p.Leu2128=) c.2135T= (p.Leu712=) c.5363T= (p.Leu1788=) | dbSNP |