| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.156162993G>C | CA116160 | SEMA4A | c.1033G>C (p.Asp345His) c.637G>C (p.Asp213His) c.919G>C (p.Asp307His) n.342G>C n.303G>C n.930G>C c.736G>C (p.Asp246His) c.526G>C (p.Asp176His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.156162993G= | CA1143538411 | SEMA4A | c.1033G= (p.Asp345=) c.637G= (p.Asp213=) c.919G= (p.Asp307=) n.342G= n.303G= n.930G= c.736G= (p.Asp246=) c.526G= (p.Asp176=) | dbSNP |