| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15635507A>G | CA278364 | BTD | c.68A>G (p.His23Arg) n.907A>G c.128A>G (p.His43Arg) c.134A>G (p.His45Arg) n.454A>G n.203A>G n.485A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15635507A= | CA1347641326 | BTD | c.68A= (p.His23=) n.907A= c.128A= (p.His43=) c.134A= (p.His45=) n.454A= n.203A= n.485A= | dbSNP |