| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.1050575G>C | CA127981 | AGRN | c.5125G>C (p.Gly1709Arg) c.4810G>C (p.Gly1604Arg) c.20G>C c.4711G>C (p.Gly1571Arg) c.4252G>C (p.Gly1418Arg) c.3391G>C (p.Gly1131Arg) n.5192G>C n.5196G>C | ClinVar dbSNP |
| 1 | g.1050575G>A | CA337780378 | AGRN | c.5125G>A (p.Gly1709Arg) c.4810G>A (p.Gly1604Arg) c.20G>A c.4711G>A (p.Gly1571Arg) c.4252G>A (p.Gly1418Arg) c.3391G>A (p.Gly1131Arg) n.5192G>A n.5196G>A | dbSNP gnomAD v4 |
| 1 | g.1050575G= | CA1143355003 | AGRN | c.5125G= (p.Gly1709=) c.4810G= (p.Gly1604=) c.20G= c.4711G= (p.Gly1571=) c.4252G= (p.Gly1418=) c.3391G= (p.Gly1131=) n.5192G= n.5196G= | dbSNP |