| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15644367G>A | CA285305 | BTD | c.451G>A (p.Ala151Thr) c.399+2310G>A (n.399+2310G>A) c.165+2310G>A (n.165+2310G>A) c.511G>A (p.Ala171Thr) c.517G>A (p.Ala173Thr) c.229G>A (p.Ala77Thr) c.*2229G>A (n.*2229G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644367G= | CA1347663573 | BTD | c.451G= (p.Ala151=) c.399+2310G= (n.399+2310G=) c.165+2310G= (n.165+2310G=) c.511G= (p.Ala171=) c.517G= (p.Ala173=) c.229G= (p.Ala77=) c.*2229G= (n.*2229G=) | dbSNP |