| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.156175179C>T | CA16603466 | SEMA4A | c.1528C>T (p.Arg510Trp) c.1132C>T (p.Arg378Trp) c.1414C>T (p.Arg472Trp) n.837C>T n.1425C>T c.1231C>T (p.Arg411Trp) c.1021C>T (p.Arg341Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.156175179C>A | CA421258286 | SEMA4A | c.1528C>A (p.Arg510=) c.1132C>A (p.Arg378=) c.1414C>A (p.Arg472=) n.837C>A n.1425C>A c.1231C>A (p.Arg411=) c.1021C>A (p.Arg341=) | dbSNP gnomAD v4 |
| 1 | g.156175179C= | CA1200489047 | SEMA4A | c.1528C= (p.Arg510=) c.1132C= (p.Arg378=) c.1414C= (p.Arg472=) n.837C= n.1425C= c.1231C= (p.Arg411=) c.1021C= (p.Arg341=) | dbSNP |