| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.46367083G>T | CA250512 | PCNT | c.*1605G>T (n.*1605G>T) n.3195G>T c.3109G>T (p.Glu1037Ter) c.*2352G>T (n.*2352G>T) n.3378G>T c.2755G>T (p.Glu919Ter) c.3190G>T (p.Glu1064Ter) c.1993G>T (p.Glu665Ter) c.889G>T (p.Glu297Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.46367083G>A | CA10079174 | PCNT | c.*1605G>A (n.*1605G>A) n.3195G>A c.3109G>A (p.Glu1037Lys) c.*2352G>A (n.*2352G>A) n.3378G>A c.2755G>A (p.Glu919Lys) c.3190G>A (p.Glu1064Lys) c.1993G>A (p.Glu665Lys) c.889G>A (p.Glu297Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |