| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.68292320G>A | CA161493 | PIK3R1 | c.78G>A (p.Met26Ile) c.168G>A (p.Met56Ile) c.978G>A (p.Met326Ile) c.107-781G>A (n.107-781G>A) c.903G>A (p.Met301Ile) c.453G>A (p.Met151Ile) c.15G>A (p.Met5Ile) c.-11G>A (n.-11G>A) c.885G>A (p.Met295Ile) n.225G>A n.1521G>A c.-70-781G>A (n.-70-781G>A) c.651G>A (p.Met217Ile) c.705G>A (p.Met235Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.68292320G>C | CA359878372 | PIK3R1 | c.78G>C (p.Met26Ile) c.168G>C (p.Met56Ile) c.978G>C (p.Met326Ile) c.107-781G>C (n.107-781G>C) c.903G>C (p.Met301Ile) c.453G>C (p.Met151Ile) c.15G>C (p.Met5Ile) c.-11G>C (n.-11G>C) c.885G>C (p.Met295Ile) n.225G>C n.1521G>C c.-70-781G>C (n.-70-781G>C) c.651G>C (p.Met217Ile) c.705G>C (p.Met235Ile) | ClinVar dbSNP |
| 5 | g.68292320G= | CA1553404853 | PIK3R1 | c.78G= (p.Met26=) c.168G= (p.Met56=) c.978G= (p.Met326=) c.107-781G= (n.107-781G=) c.903G= (p.Met301=) c.453G= (p.Met151=) c.15G= (p.Met5=) c.-11G= (n.-11G=) c.885G= (p.Met295=) n.225G= n.1521G= c.-70-781G= (n.-70-781G=) c.651G= (p.Met217=) c.705G= (p.Met235=) | dbSNP |