| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.33186354C>A | CA376476901 | NRP1 | c.2197G>T (p.Val733Phe) c.1633G>T (p.Val545Phe) c.2179G>T (p.Val727Phe) c.2176G>T (p.Val726Phe) n.2517G>T c.2200G>T (p.Val734Phe) c.2095G>T (p.Val699Phe) c.2092G>T (p.Val698Phe) c.1654G>T (p.Val552Phe) n.2279G>T | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.33186354C>T | CA5466239 | NRP1 | c.2197G>A (p.Val733Ile) c.1633G>A (p.Val545Ile) c.2179G>A (p.Val727Ile) c.2176G>A (p.Val726Ile) n.2517G>A c.2200G>A (p.Val734Ile) c.2095G>A (p.Val699Ile) c.2092G>A (p.Val698Ile) c.1654G>A (p.Val552Ile) n.2279G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |