| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99784394G>A | CA252443 | VPS13B | c.7934G>A (p.Gly2645Asp) n.8004G>A c.*3616G>A (n.*3616G>A) c.7859G>A (p.Gly2620Asp) c.7931G>A (p.Gly2644Asp) c.7856G>A (p.Gly2619Asp) c.7556G>A (p.Gly2519Asp) c.4820G>A (p.Gly1607Asp) c.3713G>A (p.Gly1238Asp) c.7739G>A (p.Gly2580Asp) c.3491G>A (p.Gly1164Asp) c.6719G>A (p.Gly2240Asp) | ClinVar dbSNP |
| 8 | g.99784394G= | CA3156098648 | VPS13B | c.7934G= (p.Gly2645=) n.8004G= c.*3616G= (n.*3616G=) c.7859G= (p.Gly2620=) c.7931G= (p.Gly2644=) c.7856G= (p.Gly2619=) c.7556G= (p.Gly2519=) c.4820G= (p.Gly1607=) c.3713G= (p.Gly1238=) c.7739G= (p.Gly2580=) c.3491G= (p.Gly1164=) c.6719G= (p.Gly2240=) | dbSNP |