| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99699821C>T | CA16041243 | VPS13B | c.6418C>T (p.Gln2140Ter) n.6488C>T c.*2100C>T (n.*2100C>T) c.6343C>T (p.Gln2115Ter) c.6415C>T (p.Gln2139Ter) c.6340C>T (p.Gln2114Ter) c.6040C>T (p.Gln2014Ter) c.3304C>T (p.Gln1102Ter) c.2197C>T (p.Gln733Ter) c.6223C>T (p.Gln2075Ter) c.1975C>T (p.Gln659Ter) c.5203C>T (p.Gln1735Ter) | ClinVar dbSNP COSMIC COSMIC |
| 8 | g.99699821C= | CA1805815776 | VPS13B | c.6418C= (p.Gln2140=) n.6488C= c.*2100C= (n.*2100C=) c.6343C= (p.Gln2115=) c.6415C= (p.Gln2139=) c.6340C= (p.Gln2114=) c.6040C= (p.Gln2014=) c.3304C= (p.Gln1102=) c.2197C= (p.Gln733=) c.6223C= (p.Gln2075=) c.1975C= (p.Gln659=) c.5203C= (p.Gln1735=) | dbSNP |