| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.761198A>G | CA339797 | SLC52A3 | c.*452T>C (n.*452T>C) c.732T>C (p.Arg244=) c.1238T>C (p.Val413Ala) n.783T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.761198A= | CA2345348138 | SLC52A3 | c.*452T= (n.*452T=) c.732T= (p.Arg244=) c.1238T= (p.Val413=) n.783T= | dbSNP |