| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.80167699C>T | CA224277 | BCKDHB | c.365C>T (p.Thr122Ile) c.155C>T (p.Thr52Ile) n.449C>T n.395C>T n.388C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.80167699C>A | CA16609445 | BCKDHB | c.365C>A (p.Thr122Asn) c.155C>A (p.Thr52Asn) n.449C>A n.395C>A n.388C>A | ClinVar dbSNP gnomAD v4 |
| 6 | g.80167699C= | CA1640937080 | BCKDHB | c.365C= (p.Thr122=) c.155C= (p.Thr52=) n.449C= n.395C= n.388C= | dbSNP |