| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41414072delinsAA | CA16043981 | BCKDHA | c.399delinsAA (p.Asn134LysfsTer4) c.333delinsAA (p.Asn112LysfsTer4) n.525delinsAA c.501delinsAA (p.Asn168LysfsTer4) c.206delinsAA c.312delinsAA (p.Asn105LysfsTer4) | ClinVar dbSNP |
| 19 | g.41414072C= | CA3233783905 | BCKDHA | c.399C= (p.Thr133=) c.333C= (p.Thr111=) n.525C= c.501C= (p.Thr167=) c.206C= c.312C= (p.Thr104=) | dbSNP |