Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.99274273C>T | CA371862254 | VPS13B | c.2591C>T (p.Ser864Leu) n.2468C>T n.2661C>T n.2657C>T n.2763C>T n.2672C>T c.2213C>T (p.Ser738Leu) n.2694C>T c.2396C>T (p.Ser799Leu) c.1376C>T (p.Ser459Leu) | dbSNP |
8 | g.99274273C>A | CA223406 | VPS13B | c.2591C>A (p.Ser864Ter) n.2468C>A n.2661C>A n.2657C>A n.2763C>A n.2672C>A c.2213C>A (p.Ser738Ter) n.2694C>A c.2396C>A (p.Ser799Ter) c.1376C>A (p.Ser459Ter) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |