| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99511275G>T | CA252433 | VPS13B | c.*246G>T (n.*246G>T) c.4471G>T (p.Glu1491Ter) n.4541G>T c.*153G>T (n.*153G>T) c.4396G>T (p.Glu1466Ter) c.*254G>T (n.*254G>T) c.4468G>T (p.Glu1490Ter) c.4393G>T (p.Glu1465Ter) c.4093G>T (p.Glu1365Ter) c.1357G>T (p.Glu453Ter) c.250G>T (p.Glu84Ter) n.4574G>T n.4641G>T c.4276G>T (p.Glu1426Ter) c.28G>T (p.Glu10Ter) c.3256G>T (p.Glu1086Ter) n.4432G>T n.4638G>T n.4590G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99511275G= | CA1805735950 | VPS13B | c.*246G= (n.*246G=) c.4471G= (p.Glu1491=) n.4541G= c.*153G= (n.*153G=) c.4396G= (p.Glu1466=) c.*254G= (n.*254G=) c.4468G= (p.Glu1490=) c.4393G= (p.Glu1465=) c.4093G= (p.Glu1365=) c.1357G= (p.Glu453=) c.250G= (p.Glu84=) n.4574G= n.4641G= c.4276G= (p.Glu1426=) c.28G= (p.Glu10=) c.3256G= (p.Glu1086=) n.4432G= n.4638G= n.4590G= | dbSNP |