| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209625919G>A | CA273928 | LAMB3 | c.1705C>T (p.Arg569Ter) c.1513C>T (p.Arg505Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209625919G>T | CA423142721 | LAMB3 | c.1705C>A (p.Arg569=) c.1513C>A (p.Arg505=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209625919G>C | CA344589727 | LAMB3 | c.1705C>G (p.Arg569Gly) c.1513C>G (p.Arg505Gly) | dbSNP gnomAD v4 |
| 1 | g.209625919G= | CA1143490062 | LAMB3 | c.1705C= (p.Arg569=) c.1513C= (p.Arg505=) | dbSNP |