| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129481422C>T | CA220807 | LAMA2 | c.7720C>T (p.Arg2574Ter) c.7996C>T (p.Arg2666Ter) c.7732C>T (p.Arg2578Ter) c.7729C>T (p.Arg2577Ter) c.7984C>T (p.Arg2662Ter) c.7990C>T (p.Arg2664Ter) c.8002C>T (p.Arg2668Ter) c.6127C>T (p.Arg2043Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129481422C>G | CA365628402 | LAMA2 | c.7720C>G (p.Arg2574Gly) c.7996C>G (p.Arg2666Gly) c.7732C>G (p.Arg2578Gly) c.7729C>G (p.Arg2577Gly) c.7984C>G (p.Arg2662Gly) c.7990C>G (p.Arg2664Gly) c.8002C>G (p.Arg2668Gly) c.6127C>G (p.Arg2043Gly) | ClinVar dbSNP gnomAD v4 COSMIC |