| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129280072C>T | CA295413 | LAMA2 | c.2462C>T (p.Thr821Met) c.2468C>T (p.Thr823Met) c.593C>T (p.Thr198Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129280072C= | CA1663078631 | LAMA2 | c.2462C= (p.Thr821=) c.2468C= (p.Thr823=) c.593C= (p.Thr198=) | dbSNP |
| 6 | g.129280072C>A | CA365609293 | LAMA2 | c.2462C>A (p.Thr821Lys) c.2468C>A (p.Thr823Lys) c.593C>A (p.Thr198Lys) | dbSNP gnomAD v4 |