| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99818485G>C | CA371773686 | VPS13B | c.8471G>C (p.Trp2824Ser) n.8541G>C c.*4153G>C (n.*4153G>C) c.8396G>C (p.Trp2799Ser) c.8468G>C (p.Trp2823Ser) c.8393G>C (p.Trp2798Ser) c.8093G>C (p.Trp2698Ser) c.5357G>C (p.Trp1786Ser) c.4250G>C (p.Trp1417Ser) c.8276G>C (p.Trp2759Ser) c.4028G>C (p.Trp1343Ser) c.7256G>C (p.Trp2419Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99818485G>A | CA16041253 | VPS13B | c.8471G>A (p.Trp2824Ter) n.8541G>A c.*4153G>A (n.*4153G>A) c.8396G>A (p.Trp2799Ter) c.8468G>A (p.Trp2823Ter) c.8393G>A (p.Trp2798Ter) c.8093G>A (p.Trp2698Ter) c.5357G>A (p.Trp1786Ter) c.4250G>A (p.Trp1417Ter) c.8276G>A (p.Trp2759Ter) c.4028G>A (p.Trp1343Ter) c.7256G>A (p.Trp2419Ter) | ClinVar dbSNP |