| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209634515G>C | CA344595859 | LAMB3 | c.496C>G (p.Gln166Glu) c.373-1382C>G (n.373-1382C>G) | dbSNP |
| 1 | g.209634515G>A | CA257276 | LAMB3 | c.496C>T (p.Gln166Ter) c.373-1382C>T (n.373-1382C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209634515G= | CA1141581389 | LAMB3 | c.496C= (p.Gln166=) c.373-1382C= (n.373-1382C=) | dbSNP |