| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.761213C>T | CA16608046 | SLC52A3 | c.*437G>A (n.*437G>A) c.717G>A (p.Arg239=) c.1223G>A (p.Gly408Asp) n.768G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.761213C= | CA2345348147 | SLC52A3 | c.*437G= (n.*437G=) c.717G= (p.Arg239=) c.1223G= (p.Gly408=) n.768G= | dbSNP |