| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15635563G>T | CA278150 | BTD | c.124G>T (p.Val42Leu) n.963G>T c.184G>T (p.Val62Leu) c.190G>T (p.Val64Leu) n.510G>T n.259G>T n.541G>T | dbSNP gnomAD v4 |
| 3 | g.15635563G>A | CA278152 | BTD | c.124G>A (p.Val42Met) n.963G>A c.184G>A (p.Val62Met) c.190G>A (p.Val64Met) n.510G>A n.259G>A n.541G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |