Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209629752G>A | CA16040695 | LAMB3 | c.1117C>T (p.Gln373Ter) c.925C>T (p.Gln309Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.209629752G= | CA2484300785 | LAMB3 | c.1117C= (p.Gln373=) c.925C= (p.Gln309=) | dbSNP |