| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99720973C>T | CA252428 | VPS13B | c.7051C>T (p.Arg2351Ter) n.7121C>T c.*2733C>T (n.*2733C>T) c.6976C>T (p.Arg2326Ter) n.106C>T c.7048C>T (p.Arg2350Ter) c.6973C>T (p.Arg2325Ter) c.6673C>T (p.Arg2225Ter) c.3937C>T (p.Arg1313Ter) c.2830C>T (p.Arg944Ter) n.2066-1760G>A c.6856C>T (p.Arg2286Ter) c.2608C>T (p.Arg870Ter) c.5836C>T (p.Arg1946Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99720973C= | CA3156098647 | VPS13B | c.7051C= (p.Arg2351=) n.7121C= c.*2733C= (n.*2733C=) c.6976C= (p.Arg2326=) n.106C= c.7048C= (p.Arg2350=) c.6973C= (p.Arg2325=) c.6673C= (p.Arg2225=) c.3937C= (p.Arg1313=) c.2830C= (p.Arg944=) n.2066-1760G= c.6856C= (p.Arg2286=) c.2608C= (p.Arg870=) c.5836C= (p.Arg1946=) | dbSNP |