| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.62102796G>A | CA10587986 | PIGN | c.1966C>T (p.Gln656Ter) c.1564C>T (p.Gln522Ter) c.1783C>T (p.Gln595Ter) c.1735C>T (p.Gln579Ter) n.1945C>T c.1906C>T (p.Gln636Ter) c.1714C>T (p.Gln572Ter) c.26C>T c.1436C>T c.*1326C>T (n.*1326C>T) c.*111C>T (n.*111C>T) c.*924C>T (n.*924C>T) c.781C>T (p.Gln261Ter) n.828C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.62102796G= | CA2308176626 | PIGN | c.1966C= (p.Gln656=) c.1564C= (p.Gln522=) c.1783C= (p.Gln595=) c.1735C= (p.Gln579=) n.1945C= c.1906C= (p.Gln636=) c.1714C= (p.Gln572=) c.26C= c.1436C= c.*1326C= (n.*1326C=) c.*111C= (n.*111C=) c.*924C= (n.*924C=) c.781C= (p.Gln261=) n.828C= | dbSNP |