| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64599687G>T | CA116318 | SLC22A12 | c.1082G>T (p.Gly361Val) c.980G>T (p.Gly327Val) c.758G>T (p.Gly253Val) c.419G>T (p.Gly140Val) c.1157G>T (p.Gly386Val) c.1052G>T (p.Gly351Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64599687G>A | CA381128583 | SLC22A12 | c.1082G>A (p.Gly361Asp) c.980G>A (p.Gly327Asp) c.758G>A (p.Gly253Asp) c.419G>A (p.Gly140Asp) c.1157G>A (p.Gly386Asp) c.1052G>A (p.Gly351Asp) | dbSNP gnomAD v4 |