| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.1050763G>T | CA151196 | AGRN | c.5179G>T (p.Val1727Phe) c.4864G>T (p.Val1622Phe) c.74G>T c.4765G>T (p.Val1589Phe) c.4306G>T (p.Val1436Phe) c.3445G>T (p.Val1149Phe) n.5246G>T n.5250G>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.1050763G>C | CA337780980 | AGRN | c.5179G>C (p.Val1727Leu) c.4864G>C (p.Val1622Leu) c.74G>C c.4765G>C (p.Val1589Leu) c.4306G>C (p.Val1436Leu) c.3445G>C (p.Val1149Leu) n.5246G>C n.5250G>C | dbSNP gnomAD v4 |
| 1 | g.1050763G= | CA1148224142 | AGRN | c.5179G= (p.Val1727=) c.4864G= (p.Val1622=) c.74G= c.4765G= (p.Val1589=) c.4306G= (p.Val1436=) c.3445G= (p.Val1149=) n.5246G= n.5250G= | dbSNP |