| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.27658560G>A | CA258058 | BDNF,BDNF-AS | c.5C>T (p.Thr2Ile) c.29C>T (p.Thr10Ile) c.50C>T (p.Thr17Ile) c.251C>T (p.Thr84Ile) c.*134C>T (n.*134C>T) n.363C>T c.92C>T (p.Thr31Ile) n.596+98G>A n.527+98G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.27658560G>T | CA5929149 | BDNF,BDNF-AS | c.5C>A (p.Thr2Asn) c.29C>A (p.Thr10Asn) c.50C>A (p.Thr17Asn) c.251C>A (p.Thr84Asn) c.*134C>A (n.*134C>A) n.363C>A c.92C>A (p.Thr31Asn) n.596+98G>T n.527+98G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |