| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15644487C>T | CA278241 | BTD | c.571C>T (p.Arg191Cys) c.399+2430C>T (n.399+2430C>T) c.165+2430C>T (n.165+2430C>T) c.631C>T (p.Arg211Cys) c.637C>T (p.Arg213Cys) c.349C>T (p.Arg117Cys) c.*2349C>T (n.*2349C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644487C= | CA1347663810 | BTD | c.571C= (p.Arg191=) c.399+2430C= (n.399+2430C=) c.165+2430C= (n.165+2430C=) c.631C= (p.Arg211=) c.637C= (p.Arg213=) c.349C= (p.Arg117=) c.*2349C= (n.*2349C=) | dbSNP |