| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99699777G>A | CA16041241 | VPS13B | c.6374G>A (p.Trp2125Ter) n.6444G>A c.*2056G>A (n.*2056G>A) c.6299G>A (p.Trp2100Ter) c.6371G>A (p.Trp2124Ter) c.6296G>A (p.Trp2099Ter) c.5996G>A (p.Trp1999Ter) c.3260G>A (p.Trp1087Ter) c.2153G>A (p.Trp718Ter) c.6179G>A (p.Trp2060Ter) c.1931G>A (p.Trp644Ter) c.5159G>A (p.Trp1720Ter) | ClinVar dbSNP |
| 8 | g.99699777G= | CA1805815630 | VPS13B | c.6374G= (p.Trp2125=) n.6444G= c.*2056G= (n.*2056G=) c.6299G= (p.Trp2100=) c.6371G= (p.Trp2124=) c.6296G= (p.Trp2099=) c.5996G= (p.Trp1999=) c.3260G= (p.Trp1087=) c.2153G= (p.Trp718=) c.6179G= (p.Trp2060=) c.1931G= (p.Trp644=) c.5159G= (p.Trp1720=) | dbSNP |