| 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 |
| 11 | g.27658560G>C | CA380075018 | BDNF,BDNF-AS | c.5C>G (p.Thr2Ser) c.29C>G (p.Thr10Ser) c.50C>G (p.Thr17Ser) c.251C>G (p.Thr84Ser) c.*134C>G (n.*134C>G) n.363C>G c.92C>G (p.Thr31Ser) n.596+98G>C n.527+98G>C | dbSNP gnomAD v4 |
| 11 | g.27658560G= | CA1960092728 | BDNF,BDNF-AS | c.5C= (p.Thr2=) c.29C= (p.Thr10=) c.50C= (p.Thr17=) c.251C= (p.Thr84=) c.*134C= (n.*134C=) n.363C= c.92C= (p.Thr31=) n.596+98G= n.527+98G= | dbSNP |