| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209625721G>A | CA257272 | LAMB3 | c.1903C>T (p.Arg635Ter) c.1711C>T (p.Arg571Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209625721G>T | CA423142591 | LAMB3 | c.1903C>A (p.Arg635=) c.1711C>A (p.Arg571=) | ClinVar dbSNP |
| 1 | g.209625721G= | CA1141188131 | LAMB3 | c.1903C= (p.Arg635=) c.1711C= (p.Arg571=) | dbSNP |