Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.75840317G>A | CA252031 | UNC13D | c.747C>T (p.Ala249=) c.748C>T (p.Arg250Ter) c.766C>T (p.Arg256Ter) c.117+3904C>T (n.117+3904C>T) n.769C>T c.709C>T (p.Arg237Ter) n.847C>T c.745C>T (p.Arg249Ter) c.157C>T (p.Arg53Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75840317G>C | CA8773278 | UNC13D | c.747C>G (p.Ala249=) c.748C>G (p.Arg250Gly) c.766C>G (p.Arg256Gly) c.117+3904C>G (n.117+3904C>G) n.769C>G c.709C>G (p.Arg237Gly) n.847C>G c.745C>G (p.Arg249Gly) c.157C>G (p.Arg53Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |