| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209625794C>T | CA257278 | LAMB3 | c.1830G>A (p.Trp610Ter) c.1638G>A (p.Trp546Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209625794C>A | CA344589309 | LAMB3 | c.1830G>T (p.Trp610Cys) c.1638G>T (p.Trp546Cys) | dbSNP gnomAD v4 |
| 1 | g.209625794C= | CA1141581352 | LAMB3 | c.1830G= (p.Trp610=) c.1638G= (p.Trp546=) | dbSNP |