| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.38075387A>G | CA119012 | CYP1B1 | c.2T>C (p.Met1Thr) c.-70-4077T>C (n.-70-4077T>C) n.375+393T>C c.1A>G (p.Met1Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.38075387A>C | CA346330095 | CYP1B1 | c.2T>G (p.Met1Arg) c.-70-4077T>G (n.-70-4077T>G) n.375+393T>G c.1A>C (p.Met1Leu) | ClinVar dbSNP |
| 2 | g.38075387A= | CA1245628351 | CYP1B1 | c.2T= (p.Met1=) c.-70-4077T= (n.-70-4077T=) n.375+393T= c.1A= (p.Met1=) | dbSNP |