| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129316089C>G | CA365613698 | LAMA2 | c.3976C>G (p.Arg1326Gly) c.4240C>G (p.Arg1414Gly) c.4246C>G (p.Arg1416Gly) c.2371C>G (p.Arg791Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129316089C>T | CA220766 | LAMA2 | c.3976C>T (p.Arg1326Ter) c.4240C>T (p.Arg1414Ter) c.4246C>T (p.Arg1416Ter) c.2371C>T (p.Arg791Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |