| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209618555G>A | CA257280 | LAMB3 | c.2806C>T (p.Gln936Ter) c.13C>T (p.Gln5Ter) c.2614C>T (p.Gln872Ter) | ClinVar dbSNP |
| 1 | g.209618555G>T | CA344585155 | LAMB3 | c.2806C>A (p.Gln936Lys) c.13C>A (p.Gln5Lys) c.2614C>A (p.Gln872Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209618555G= | CA1141581351 | LAMB3 | c.2806C= (p.Gln936=) c.13C= (p.Gln5=) c.2614C= (p.Gln872=) | dbSNP |