| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64600390T>A | CA381131426 | SLC22A12 | c.1309T>A (p.Leu437Met) c.1207T>A (p.Leu403Met) c.985T>A (p.Leu329Met) c.646T>A (p.Leu216Met) c.1384T>A (p.Leu462Met) c.1279T>A (p.Leu427Met) | dbSNP |
| 11 | g.64600390T>C | CA6077403 | SLC22A12 | c.1309T>C (p.Leu437=) c.1207T>C (p.Leu403=) c.985T>C (p.Leu329=) c.646T>C (p.Leu216=) c.1384T>C (p.Leu462=) c.1279T>C (p.Leu427=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64600390T>G | CA223872452 | SLC22A12 | c.1309T>G (p.Leu437Val) c.1207T>G (p.Leu403Val) c.985T>G (p.Leu329Val) c.646T>G (p.Leu216Val) c.1384T>G (p.Leu462Val) c.1279T>G (p.Leu427Val) | dbSNP |