| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15644590G>A | CA278252 | BTD | c.674G>A (p.Cys225Tyr) c.399+2533G>A (n.399+2533G>A) c.165+2533G>A (n.165+2533G>A) c.734G>A (p.Cys245Tyr) c.740G>A (p.Cys247Tyr) c.452G>A (p.Cys151Tyr) c.*2452G>A (n.*2452G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644590G= | CA1347664049 | BTD | c.674G= (p.Cys225=) c.399+2533G= (n.399+2533G=) c.165+2533G= (n.165+2533G=) c.734G= (p.Cys245=) c.740G= (p.Cys247=) c.452G= (p.Cys151=) c.*2452G= (n.*2452G=) | dbSNP |