| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.156176849G>A | CA201231 | SEMA4A | c.2138G>A (p.Arg713Gln) c.1742G>A (p.Arg581Gln) c.2024G>A (p.Arg675Gln) c.1841G>A (p.Arg614Gln) c.1631G>A (p.Arg544Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.156176849G= | CA1140609645 | SEMA4A | c.2138G= (p.Arg713=) c.1742G= (p.Arg581=) c.2024G= (p.Arg675=) c.1841G= (p.Arg614=) c.1631G= (p.Arg544=) | dbSNP |