| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15645451C>T | CA278009 | BTD | c.1535C>T (p.Thr512Met) c.399+3394C>T (n.399+3394C>T) c.1015+520C>T (n.1015+520C>T) c.165+3394C>T (n.165+3394C>T) c.1595C>T (p.Thr532Met) c.1601C>T (p.Thr534Met) c.793+520C>T (n.793+520C>T) c.*3313C>T (n.*3313C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15645451C= | CA1347665950 | BTD | c.1535C= (p.Thr512=) c.399+3394C= (n.399+3394C=) c.1015+520C= (n.1015+520C=) c.165+3394C= (n.165+3394C=) c.1595C= (p.Thr532=) c.1601C= (p.Thr534=) c.793+520C= (n.793+520C=) c.*3313C= (n.*3313C=) | dbSNP |