| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99717371C>T | CA16041246 | VPS13B | c.6730C>T (p.Gln2244Ter) n.6800C>T c.*2412C>T (n.*2412C>T) c.6655C>T (p.Gln2219Ter) c.6727C>T (p.Gln2243Ter) c.6652C>T (p.Gln2218Ter) c.6352C>T (p.Gln2118Ter) c.3616C>T (p.Gln1206Ter) c.2509C>T (p.Gln837Ter) c.6535C>T (p.Gln2179Ter) c.2287C>T (p.Gln763Ter) c.5515C>T (p.Gln1839Ter) | ClinVar dbSNP |
| 8 | g.99717371C= | CA3156712801 | VPS13B | c.6730C= (p.Gln2244=) n.6800C= c.*2412C= (n.*2412C=) c.6655C= (p.Gln2219=) c.6727C= (p.Gln2243=) c.6652C= (p.Gln2218=) c.6352C= (p.Gln2118=) c.3616C= (p.Gln1206=) c.2509C= (p.Gln837=) c.6535C= (p.Gln2179=) c.2287C= (p.Gln763=) c.5515C= (p.Gln1839=) | dbSNP |
| 8 | g.99717371C>A | CA371867499 | VPS13B | c.6730C>A (p.Gln2244Lys) n.6800C>A c.*2412C>A (n.*2412C>A) c.6655C>A (p.Gln2219Lys) c.6727C>A (p.Gln2243Lys) c.6652C>A (p.Gln2218Lys) c.6352C>A (p.Gln2118Lys) c.3616C>A (p.Gln1206Lys) c.2509C>A (p.Gln837Lys) c.6535C>A (p.Gln2179Lys) c.2287C>A (p.Gln763Lys) c.5515C>A (p.Gln1839Lys) | dbSNP gnomAD v4 |