| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.62095902C>T | CA129326 | PIGN | c.2126G>A (p.Arg709Gln) c.1724G>A (p.Arg575Gln) c.1943G>A (p.Arg648Gln) c.1895G>A (p.Arg632Gln) n.2105G>A c.2066G>A (p.Arg689Gln) c.1874G>A (p.Arg625Gln) c.186G>A c.1596G>A c.*1486G>A (n.*1486G>A) c.*271G>A (n.*271G>A) c.*1084G>A (n.*1084G>A) c.941G>A (p.Arg314Gln) n.988G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.62095902C>A | CA402603066 | PIGN | c.2126G>T (p.Arg709Leu) c.1724G>T (p.Arg575Leu) c.1943G>T (p.Arg648Leu) c.1895G>T (p.Arg632Leu) n.2105G>T c.2066G>T (p.Arg689Leu) c.1874G>T (p.Arg625Leu) c.186G>T c.1596G>T c.*1486G>T (n.*1486G>T) c.*271G>T (n.*271G>T) c.*1084G>T (n.*1084G>T) c.941G>T (p.Arg314Leu) n.988G>T | ClinVar dbSNP |
| 18 | g.62095902C= | CA2308173175 | PIGN | c.2126G= (p.Arg709=) c.1724G= (p.Arg575=) c.1943G= (p.Arg648=) c.1895G= (p.Arg632=) n.2105G= c.2066G= (p.Arg689=) c.1874G= (p.Arg625=) c.186G= c.1596G= c.*1486G= (n.*1486G=) c.*271G= (n.*271G=) c.*1084G= (n.*1084G=) c.941G= (p.Arg314=) n.988G= | dbSNP |