| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99859307G>A | CA263996 | VPS13B | c.*40G>A (n.*40G>A) n.11016G>A c.*6628G>A (n.*6628G>A) c.10871G>A (p.Trp3624Ter) c.10946G>A (p.Trp3649Ter) c.10943G>A (p.Trp3648Ter) c.10868G>A (p.Trp3623Ter) c.10568G>A (p.Trp3523Ter) c.7832G>A (p.Trp2611Ter) c.6725G>A (p.Trp2242Ter) c.10751G>A (p.Trp3584Ter) c.6503G>A (p.Trp2168Ter) c.9731G>A (p.Trp3244Ter) | ClinVar dbSNP gnomAD v4 |
| 8 | g.99859307G>C | CA371788569 | VPS13B | c.*40G>C (n.*40G>C) n.11016G>C c.*6628G>C (n.*6628G>C) c.10871G>C (p.Trp3624Ser) c.10946G>C (p.Trp3649Ser) c.10943G>C (p.Trp3648Ser) c.10868G>C (p.Trp3623Ser) c.10568G>C (p.Trp3523Ser) c.7832G>C (p.Trp2611Ser) c.6725G>C (p.Trp2242Ser) c.10751G>C (p.Trp3584Ser) c.6503G>C (p.Trp2168Ser) c.9731G>C (p.Trp3244Ser) | ClinVar dbSNP |
| 8 | g.99859307G= | CA3156170629 | VPS13B | c.*40G= (n.*40G=) n.11016G= c.*6628G= (n.*6628G=) c.10871G= (p.Trp3624=) c.10946G= (p.Trp3649=) c.10943G= (p.Trp3648=) c.10868G= (p.Trp3623=) c.10568G= (p.Trp3523=) c.7832G= (p.Trp2611=) c.6725G= (p.Trp2242=) c.10751G= (p.Trp3584=) c.6503G= (p.Trp2168=) c.9731G= (p.Trp3244=) | dbSNP |