| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129402366G>A | CA3993936 | LAMA2 | c.5605G>A (p.Glu1869Lys) c.5869G>A (p.Glu1957Lys) c.5875G>A (p.Glu1959Lys) c.4000G>A (p.Glu1334Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129402366G>T | CA10606868 | LAMA2 | c.5605G>T (p.Glu1869Ter) c.5869G>T (p.Glu1957Ter) c.5875G>T (p.Glu1959Ter) c.4000G>T (p.Glu1334Ter) | ClinVar dbSNP gnomAD v4 |