| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15644488G>A | CA220331 | BTD | c.572G>A (p.Arg191His) c.399+2431G>A (n.399+2431G>A) c.165+2431G>A (n.165+2431G>A) c.632G>A (p.Arg211His) c.638G>A (p.Arg213His) c.350G>A (p.Arg117His) c.*2350G>A (n.*2350G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644488G= | CA1347663817 | BTD | c.572G= (p.Arg191=) c.399+2431G= (n.399+2431G=) c.165+2431G= (n.165+2431G=) c.632G= (p.Arg211=) c.638G= (p.Arg213=) c.350G= (p.Arg117=) c.*2350G= (n.*2350G=) | dbSNP |