| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.136327239C>T | CA341174 | PCCB | c.1283C>T (p.Thr428Ile) c.1214C>T (p.Thr405Ile) c.1343C>T (p.Thr448Ile) c.1376C>T (p.Thr459Ile) n.1484C>T n.823+329C>T c.885-7041C>T (n.885-7041C>T) c.935C>T (p.Thr312Ile) c.1226C>T (p.Thr409Ile) c.1198+329C>T (n.1198+329C>T) c.1112C>T (p.Thr371Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.136327239C= | CA1404303769 | PCCB | c.1283C= (p.Thr428=) c.1214C= (p.Thr405=) c.1343C= (p.Thr448=) c.1376C= (p.Thr459=) n.1484C= n.823+329C= c.885-7041C= (n.885-7041C=) c.935C= (p.Thr312=) c.1226C= (p.Thr409=) c.1198+329C= (n.1198+329C=) c.1112C= (p.Thr371=) | dbSNP |