| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.62161173C>A | CA8982647 | PIGN | c.181G>T (p.Glu61Ter) c.165G>T c.-51G>T (n.-51G>T) n.422G>T c.73G>T (p.Glu25Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.62161173C>T | CA402604291 | PIGN | c.181G>A (p.Glu61Lys) c.165G>A c.-51G>A (n.-51G>A) n.422G>A c.73G>A (p.Glu25Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |