| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.20779935G>A | CA124490 | PI4KA,SERPIND1 | c.623G>A (p.Arg208His) c.2328+13258C>T (n.2328+13258C>T) n.91+13258C>T n.64+13258C>T c.2412+13258C>T (n.2412+13258C>T) n.2415+13258C>T c.2262+13258C>T (n.2262+13258C>T) c.429+13258C>T (n.429+13258C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.20779935G= | CA1139772244 | PI4KA,SERPIND1 | c.623G= (p.Arg208=) c.2328+13258C= (n.2328+13258C=) n.91+13258C= n.64+13258C= c.2412+13258C= (n.2412+13258C=) n.2415+13258C= c.2262+13258C= (n.2262+13258C=) c.429+13258C= (n.429+13258C=) | dbSNP |