Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.54158993A>G | CA9915899 | CYP24A1 | c.1121T>C (p.Met374Thr) c.695T>C (p.Met232Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.54158993A>C | CA409389823 | CYP24A1 | c.1121T>G (p.Met374Arg) c.695T>G (p.Met232Arg) | dbSNP gnomAD v4 |
20 | g.54158993A= | CA2370265022 | CYP24A1 | c.1121T= (p.Met374=) c.695T= (p.Met232=) | dbSNP |