| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99699797C>T | CA16041242 | VPS13B | c.6394C>T (p.Gln2132Ter) n.6464C>T c.*2076C>T (n.*2076C>T) c.6319C>T (p.Gln2107Ter) c.6391C>T (p.Gln2131Ter) c.6316C>T (p.Gln2106Ter) c.6016C>T (p.Gln2006Ter) c.3280C>T (p.Gln1094Ter) c.2173C>T (p.Gln725Ter) c.6199C>T (p.Gln2067Ter) c.1951C>T (p.Gln651Ter) c.5179C>T (p.Gln1727Ter) | ClinVar dbSNP COSMIC COSMIC |
| 8 | g.99699797C= | CA1805815720 | VPS13B | c.6394C= (p.Gln2132=) n.6464C= c.*2076C= (n.*2076C=) c.6319C= (p.Gln2107=) c.6391C= (p.Gln2131=) c.6316C= (p.Gln2106=) c.6016C= (p.Gln2006=) c.3280C= (p.Gln1094=) c.2173C= (p.Gln725=) c.6199C= (p.Gln2067=) c.1951C= (p.Gln651=) c.5179C= (p.Gln1727=) | dbSNP |