| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99717186C>A | CA16041244 | VPS13B | c.6545C>A (p.Ser2182Ter) n.6615C>A c.*2227C>A (n.*2227C>A) c.6470C>A (p.Ser2157Ter) c.6542C>A (p.Ser2181Ter) c.6467C>A (p.Ser2156Ter) c.6167C>A (p.Ser2056Ter) c.3431C>A (p.Ser1144Ter) c.2324C>A (p.Ser775Ter) c.6350C>A (p.Ser2117Ter) c.2102C>A (p.Ser701Ter) c.5330C>A (p.Ser1777Ter) | ClinVar dbSNP gnomAD v4 |
| 8 | g.99717186C>G | CA371867108 | VPS13B | c.6545C>G (p.Ser2182Ter) n.6615C>G c.*2227C>G (n.*2227C>G) c.6470C>G (p.Ser2157Ter) c.6542C>G (p.Ser2181Ter) c.6467C>G (p.Ser2156Ter) c.6167C>G (p.Ser2056Ter) c.3431C>G (p.Ser1144Ter) c.2324C>G (p.Ser775Ter) c.6350C>G (p.Ser2117Ter) c.2102C>G (p.Ser701Ter) c.5330C>G (p.Ser1777Ter) | ClinVar dbSNP |
| 8 | g.99717186C= | CA3156712800 | VPS13B | c.6545C= (p.Ser2182=) n.6615C= c.*2227C= (n.*2227C=) c.6470C= (p.Ser2157=) c.6542C= (p.Ser2181=) c.6467C= (p.Ser2156=) c.6167C= (p.Ser2056=) c.3431C= (p.Ser1144=) c.2324C= (p.Ser775=) c.6350C= (p.Ser2117=) c.2102C= (p.Ser701=) c.5330C= (p.Ser1777=) | dbSNP |