| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209623999G>T | CA423142574 | LAMB3 | c.1978C>A (p.Arg660=) c.1786C>A (p.Arg596=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209623999G>A | CA274294 | LAMB3 | c.1978C>T (p.Arg660Ter) c.1786C>T (p.Arg596Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623999G= | CA1142138029 | LAMB3 | c.1978C= (p.Arg660=) c.1786C= (p.Arg596=) | dbSNP |
| 1 | g.209623999G>C | CA344588997 | LAMB3 | c.1978C>G (p.Arg660Gly) c.1786C>G (p.Arg596Gly) | dbSNP gnomAD v4 |