| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99853495T>G | CA16041269 | VPS13B | c.10181T>G (p.Leu3394Ter) n.10251T>G c.*5863T>G (n.*5863T>G) c.10106T>G (p.Leu3369Ter) c.10178T>G (p.Leu3393Ter) c.10103T>G (p.Leu3368Ter) c.9803T>G (p.Leu3268Ter) c.7067T>G (p.Leu2356Ter) c.5960T>G (p.Leu1987Ter) c.9986T>G (p.Leu3329Ter) c.5738T>G (p.Leu1913Ter) c.8966T>G (p.Leu2989Ter) | ClinVar dbSNP |
| 8 | g.99853495T= | CA3156712810 | VPS13B | c.10181T= (p.Leu3394=) n.10251T= c.*5863T= (n.*5863T=) c.10106T= (p.Leu3369=) c.10178T= (p.Leu3393=) c.10103T= (p.Leu3368=) c.9803T= (p.Leu3268=) c.7067T= (p.Leu2356=) c.5960T= (p.Leu1987=) c.9986T= (p.Leu3329=) c.5738T= (p.Leu1913=) c.8966T= (p.Leu2989=) | dbSNP |