6 | g.80168923A>T | CA224309 | BCKDHB | c.526A>T (p.Asn176Tyr) c.316A>T (p.Asn106Tyr) n.610A>T n.556A>T n.549A>T
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80168923A= | CA1640937762 | BCKDHB | c.526A= (p.Asn176=) c.316A= (p.Asn106=) n.610A= n.556A= n.549A=
| dbSNP |