| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15642053C>G | CA278435 | BTD | c.395C>G (p.Thr132Arg) n.1234C>G c.161C>G (p.Thr54Arg) c.455C>G (p.Thr152Arg) c.461C>G (p.Thr154Arg) c.173C>G (p.Thr58Arg) n.530C>G | ClinVar dbSNP |
| 3 | g.15642053C>T | CA2277313 | BTD | c.395C>T (p.Thr132Ile) n.1234C>T c.161C>T (p.Thr54Ile) c.455C>T (p.Thr152Ile) c.461C>T (p.Thr154Ile) c.173C>T (p.Thr58Ile) n.530C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |