| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.84999673T>G | CA4323209 | SEMA3D | c.2101A>C (p.Lys701Gln) n.1227A>C c.1519A>C (p.Lys507Gln) c.1018A>C (p.Lys340Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.84999673T= | CA1722439212 | SEMA3D | c.2101A= (p.Lys701=) n.1227A= c.1519A= (p.Lys507=) c.1018A= (p.Lys340=) | dbSNP |