| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.49131128C>T | CA124112 | LAMB2 | c.737G>A (p.Arg246Gln) c.290G>A (p.Arg97Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49131128C>G | CA352748377 | LAMB2 | c.737G>C (p.Arg246Pro) c.290G>C (p.Arg97Pro) | dbSNP |
| 3 | g.49131128C= | CA1363342846 | LAMB2 | c.737G= (p.Arg246=) c.290G= (p.Arg97=) | dbSNP |