| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.75840050G>A | CA8773208 | UNC13D | c.900C>T (p.Ser300=) c.901C>T (p.Gln301Ter) c.99C>T c.919C>T (p.Gln307Ter) c.118-3794C>T (n.118-3794C>T) c.141C>T n.922C>T n.1114C>T c.898C>T (p.Gln300Ter) c.310C>T (p.Gln104Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.75840050G= | CA2275708774 | UNC13D | c.900C= (p.Ser300=) c.901C= (p.Gln301=) c.99C= c.919C= (p.Gln307=) c.118-3794C= (n.118-3794C=) c.141C= n.922C= n.1114C= c.898C= (p.Gln300=) c.310C= (p.Gln104=) | dbSNP |