| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129280071A>G | CA3992956 | LAMA2 | c.2461A>G (p.Thr821Ala) c.2467A>G (p.Thr823Ala) c.592A>G (p.Thr198Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129280071A>C | CA051537 | LAMA2 | c.2461A>C (p.Thr821Pro) c.2467A>C (p.Thr823Pro) c.592A>C (p.Thr198Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129280071A= | CA1663078624 | LAMA2 | c.2461A= (p.Thr821=) c.2467A= (p.Thr823=) c.592A= (p.Thr198=) | dbSNP |