| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99871657_99871661delinsAA | CA264018 | VPS13B | c.*1434_*1438delinsAA (n.*1434_*1438delinsAA) n.12410_12414delinsAA c.*7462_*7466delinsAA (n.*7462_*7466delinsAA) c.11705_11709delinsAA (p.Thr3902_Val3903delinsLys) c.11780_11784delinsAA (p.Thr3927_Val3928delinsLys) n.1282_1286delinsAA c.11777_11781delinsAA (p.Thr3926_Val3927delinsLys) c.11702_11706delinsAA (p.Thr3901_Val3902delinsLys) c.11402_11406delinsAA (p.Thr3801_Val3802delinsLys) c.8666_8670delinsAA (p.Thr2889_Val2890delinsLys) c.7559_7563delinsAA (p.Thr2520_Val2521delinsLys) c.11585_11589delinsAA (p.Thr3862_Val3863delinsLys) c.7337_7341delinsAA (p.Thr2446_Val2447delinsLys) c.10565_10569delinsAA (p.Thr3522_Val3523delinsLys) | ClinVar dbSNP |
| 8 | g.99871657_99871661delinsAGAA | CA274469 | VPS13B | c.*1434_*1438delinsAGAA (n.*1434_*1438delinsAGAA) n.12410_12414delinsAGAA c.*7462_*7466delinsAGAA (n.*7462_*7466delinsAGAA) c.11705_11709delinsAGAA (p.Thr3902LysfsTer15) c.11780_11784delinsAGAA (p.Thr3927LysfsTer15) n.1282_1286delinsAGAA c.11777_11781delinsAGAA (p.Thr3926LysfsTer15) c.11702_11706delinsAGAA (p.Thr3901LysfsTer15) c.11402_11406delinsAGAA (p.Thr3801LysfsTer15) c.8666_8670delinsAGAA (p.Thr2889LysfsTer15) c.7559_7563delinsAGAA (p.Thr2520LysfsTer15) c.11585_11589delinsAGAA (p.Thr3862LysfsTer15) c.7337_7341delinsAGAA (p.Thr2446LysfsTer15) c.10565_10569delinsAGAA (p.Thr3522LysfsTer15) | ClinVar dbSNP |