| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99766796G>A | CA16041250 | VPS13B | c.7148G>A (p.Trp2383Ter) n.7218G>A c.*2830G>A (n.*2830G>A) c.7073G>A (p.Trp2358Ter) n.203G>A c.7145G>A (p.Trp2382Ter) c.7070G>A (p.Trp2357Ter) c.6770G>A (p.Trp2257Ter) c.4034G>A (p.Trp1345Ter) c.2927G>A (p.Trp976Ter) n.2065+3892C>T c.6953G>A (p.Trp2318Ter) c.2705G>A (p.Trp902Ter) c.5933G>A (p.Trp1978Ter) | ClinVar dbSNP |
| 8 | g.99766796G= | CA3156712821 | VPS13B | c.7148G= (p.Trp2383=) n.7218G= c.*2830G= (n.*2830G=) c.7073G= (p.Trp2358=) n.203G= c.7145G= (p.Trp2382=) c.7070G= (p.Trp2357=) c.6770G= (p.Trp2257=) c.4034G= (p.Trp1345=) c.2927G= (p.Trp976=) n.2065+3892C= c.6953G= (p.Trp2318=) c.2705G= (p.Trp902=) c.5933G= (p.Trp1978=) | dbSNP |