| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.46991644C>G | CA129684 | NBEAL2 | c.881C>G (p.Ser294Ter) c.860C>G (p.Ser287Ter) c.557-196C>G (n.557-196C>G) c.341C>G (p.Ser114Ter) c.227C>G (p.Ser76Ter) n.1057C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.46991644C>T | CA352506103 | NBEAL2 | c.881C>T (p.Ser294Leu) c.860C>T (p.Ser287Leu) c.557-196C>T (n.557-196C>T) c.341C>T (p.Ser114Leu) c.227C>T (p.Ser76Leu) n.1057C>T | ClinVar dbSNP |
| 3 | g.46991644C= | CA1362359002 | NBEAL2 | c.881C= (p.Ser294=) c.860C= (p.Ser287=) c.557-196C= (n.557-196C=) c.341C= (p.Ser114=) c.227C= (p.Ser76=) n.1057C= | dbSNP |