| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99766903A>T | CA16041251 | VPS13B | c.7255A>T (p.Lys2419Ter) n.7325A>T c.*2937A>T (n.*2937A>T) c.7180A>T (p.Lys2394Ter) n.310A>T c.7252A>T (p.Lys2418Ter) c.7177A>T (p.Lys2393Ter) c.6877A>T (p.Lys2293Ter) c.4141A>T (p.Lys1381Ter) c.3034A>T (p.Lys1012Ter) n.2065+3785T>A c.7060A>T (p.Lys2354Ter) c.2812A>T (p.Lys938Ter) c.6040A>T (p.Lys2014Ter) | ClinVar dbSNP |
| 8 | g.99766903A>C | CA371874404 | VPS13B | c.7255A>C (p.Lys2419Gln) n.7325A>C c.*2937A>C (n.*2937A>C) c.7180A>C (p.Lys2394Gln) n.310A>C c.7252A>C (p.Lys2418Gln) c.7177A>C (p.Lys2393Gln) c.6877A>C (p.Lys2293Gln) c.4141A>C (p.Lys1381Gln) c.3034A>C (p.Lys1012Gln) n.2065+3785T>G c.7060A>C (p.Lys2354Gln) c.2812A>C (p.Lys938Gln) c.6040A>C (p.Lys2014Gln) | dbSNP gnomAD v2 gnomAD v4 |