| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15635512G>A | CA241269 | BTD | c.73G>A (p.Gly25Arg) n.912G>A c.133G>A (p.Gly45Arg) c.139G>A (p.Gly47Arg) n.459G>A n.208G>A n.490G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15635512G= | CA1347641329 | BTD | c.73G= (p.Gly25=) n.912G= c.133G= (p.Gly45=) c.139G= (p.Gly47=) n.459G= n.208G= n.490G= | dbSNP |
| 3 | g.15635512G>T | CA351602870 | BTD | c.73G>T (p.Gly25Trp) n.912G>T c.133G>T (p.Gly45Trp) c.139G>T (p.Gly47Trp) n.459G>T n.208G>T n.490G>T | dbSNP gnomAD v4 |