| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.75835410T>G | CA8772785 | UNC13D | c.782A>C (p.Glu261Ala) c.1847A>C (p.Glu616Ala) n.2117A>C c.1844A>C (p.Glu615Ala) c.1238A>C (p.Glu413Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.75835410T>C | CA401092049 | UNC13D | c.782A>G (p.Glu261Gly) c.1847A>G (p.Glu616Gly) n.2117A>G c.1844A>G (p.Glu615Gly) c.1238A>G (p.Glu413Gly) | ClinVar dbSNP gnomAD v4 |
| 17 | g.75835410T= | CA2275706436 | UNC13D | c.782A= (p.Glu261=) c.1847A= (p.Glu616=) n.2117A= c.1844A= (p.Glu615=) c.1238A= (p.Glu413=) | dbSNP |