| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15644326G>A | CA220323 | BTD | c.410G>A (p.Arg137His) c.399+2269G>A (n.399+2269G>A) c.165+2269G>A (n.165+2269G>A) c.470G>A (p.Arg157His) c.476G>A (p.Arg159His) c.188G>A (p.Arg63His) c.*2188G>A (n.*2188G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.15644326G= | CA1347663492 | BTD | c.410G= (p.Arg137=) c.399+2269G= (n.399+2269G=) c.165+2269G= (n.165+2269G=) c.470G= (p.Arg157=) c.476G= (p.Arg159=) c.188G= (p.Arg63=) c.*2188G= (n.*2188G=) | dbSNP |