| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209618044G>A | CA1375045 | LAMB3 | c.2914C>T (p.Arg972Ter) c.121C>T (p.Arg41Ter) c.2722C>T (p.Arg908Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209618044G>T | CA423029844 | LAMB3 | c.2914C>A (p.Arg972=) c.121C>A (p.Arg41=) c.2722C>A (p.Arg908=) | dbSNP gnomAD v4 |
| 1 | g.209618044G= | CA1148572349 | LAMB3 | c.2914C= (p.Arg972=) c.121C= (p.Arg41=) c.2722C= (p.Arg908=) | dbSNP |