| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209632678G>A | CA341658 | LAMB3 | c.727C>T (p.Gln243Ter) c.535C>T (p.Gln179Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209632678G>C | CA344594554 | LAMB3 | c.727C>G (p.Gln243Glu) c.535C>G (p.Gln179Glu) | dbSNP gnomAD v4 |
| 1 | g.209632678G= | CA1141188135 | LAMB3 | c.727C= (p.Gln243=) c.535C= (p.Gln179=) | dbSNP |