| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129190236G>A | CA16618239 | LAMA2 | c.1499G>A (p.Cys500Tyr) n.1604G>A n.962G>A c.1505G>A (p.Cys502Tyr) | ClinVar dbSNP |
| 6 | g.129190236G= | CA1663045418 | LAMA2 | c.1499G= (p.Cys500=) n.1604G= n.962G= c.1505G= (p.Cys502=) | dbSNP |