Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209630688A>T | CA16040700 | LAMB3 | c.870T>A (p.Cys290Ter) c.678T>A (p.Cys226Ter) | ClinVar dbSNP |
1 | g.209630688A>G | CA423032450 | LAMB3 | c.870T>C (p.Cys290=) c.678T>C (p.Cys226=) | dbSNP gnomAD v3 gnomAD v4 |