| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209634581G>A | CA1375970 | LAMB3 | c.430C>T (p.Arg144Ter) c.373-1448C>T (n.373-1448C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209634581G>C | CA344596112 | LAMB3 | c.430C>G (p.Arg144Gly) c.373-1448C>G (n.373-1448C>G) | dbSNP gnomAD v4 |
| 1 | g.209634581G>T | CA423032862 | LAMB3 | c.430C>A (p.Arg144=) c.373-1448C>A (n.373-1448C>A) | ClinVar dbSNP |
| 1 | g.209634581G= | CA2484302776 | LAMB3 | c.430C= (p.Arg144=) c.373-1448C= (n.373-1448C=) | dbSNP |