| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.75830592G>A | CA8772432 | UNC13D | c.1561C>T (p.Arg521Ter) c.2695C>T (p.Arg899Ter) n.70C>T c.2764C>T (p.Arg922Ter) c.2761C>T (p.Arg921Ter) c.2155C>T (p.Arg719Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.75830592G>C | CA401080584 | UNC13D | c.1561C>G (p.Arg521Gly) c.2695C>G (p.Arg899Gly) n.70C>G c.2764C>G (p.Arg922Gly) c.2761C>G (p.Arg921Gly) c.2155C>G (p.Arg719Gly) | dbSNP |
| 17 | g.75830592G= | CA2275704156 | UNC13D | c.1561C= (p.Arg521=) c.2695C= (p.Arg899=) n.70C= c.2764C= (p.Arg922=) c.2761C= (p.Arg921=) c.2155C= (p.Arg719=) | dbSNP |