| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209617519C>T | CA16040688 | LAMB3 | c.3119G>A (p.Trp1040Ter) c.326G>A (p.Trp109Ter) c.2927G>A (p.Trp976Ter) | ClinVar dbSNP |
| 1 | g.209617519C= | CA2484295889 | LAMB3 | c.3119G= (p.Trp1040=) c.326G= (p.Trp109=) c.2927G= (p.Trp976=) | dbSNP |