| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.38071007A>T | CA45506106 | CYP1B1 | c.1347T>A (p.Asp449Glu) n.725T>A c.234T>A (p.Asp78Glu) | dbSNP |
| 2 | g.38071007A>G | CA179947 | CYP1B1 | c.1347T>C (p.Asp449=) n.725T>C c.234T>C (p.Asp78=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.38071007A= | CA1245626065 | CYP1B1 | c.1347T= (p.Asp449=) n.725T= c.234T= (p.Asp78=) | dbSNP |