| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.75840100G>A | CA8773227 | UNC13D | c.850C>T (p.Arg284Trp) c.851C>T (p.Ser284Leu) c.49C>T c.869C>T (p.Ser290Leu) c.118-3844C>T (n.118-3844C>T) c.91C>T n.872C>T n.1064C>T c.848C>T (p.Ser283Leu) c.260C>T (p.Ser87Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.75840100G>T | CA401108037 | UNC13D | c.850C>A (p.Arg284=) c.851C>A (p.Ser284Ter) c.49C>A c.869C>A (p.Ser290Ter) c.118-3844C>A (n.118-3844C>A) c.91C>A n.872C>A n.1064C>A c.848C>A (p.Ser283Ter) c.260C>A (p.Ser87Ter) | ClinVar dbSNP gnomAD v4 |