| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209617924G>A | CA16040689 | LAMB3 | c.3034C>T (p.Gln1012Ter) c.241C>T (p.Gln81Ter) c.2842C>T (p.Gln948Ter) | ClinVar dbSNP |
| 1 | g.209617924G= | CA2484296054 | LAMB3 | c.3034C= (p.Gln1012=) c.241C= (p.Gln81=) c.2842C= (p.Gln948=) | dbSNP |