| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99818473T>C | CA252457 | VPS13B | c.8459T>C (p.Ile2820Thr) n.8529T>C c.*4141T>C (n.*4141T>C) c.8384T>C (p.Ile2795Thr) c.8456T>C (p.Ile2819Thr) c.8381T>C (p.Ile2794Thr) c.8081T>C (p.Ile2694Thr) c.5345T>C (p.Ile1782Thr) c.4238T>C (p.Ile1413Thr) c.8264T>C (p.Ile2755Thr) c.4016T>C (p.Ile1339Thr) c.7244T>C (p.Ile2415Thr) | ClinVar dbSNP gnomAD v4 |
| 8 | g.99818473T= | CA3156098651 | VPS13B | c.8459T= (p.Ile2820=) n.8529T= c.*4141T= (n.*4141T=) c.8384T= (p.Ile2795=) c.8456T= (p.Ile2819=) c.8381T= (p.Ile2794=) c.8081T= (p.Ile2694=) c.5345T= (p.Ile1782=) c.4238T= (p.Ile1413=) c.8264T= (p.Ile2755=) c.4016T= (p.Ile1339=) c.7244T= (p.Ile2415=) | dbSNP |