| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209633135T>G | CA16040703 | LAMB3 | c.565-2A>C (n.565-2A>C) c.373-2A>C (n.373-2A>C) | ClinVar dbSNP |
| 1 | g.209633135T>C | CA274032 | LAMB3 | c.565-2A>G (n.565-2A>G) c.373-2A>G (n.373-2A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209633135T= | CA1143710301 | LAMB3 | c.565-2A= (n.565-2A=) c.373-2A= (n.373-2A=) | dbSNP |