| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.60074815G>A | CA151797 | ANK3 | c.4489+5722C>T (n.4489+5722C>T) c.4408+5722C>T (n.4408+5722C>T) c.6066C>T (p.Ala2022=) c.1807+5722C>T (n.1807+5722C>T) c.181+5722C>T (n.181+5722C>T) c.4387+5722C>T (n.4387+5722C>T) c.84+5722C>T c.3097C>T c.1223+5758C>T c.4459+5722C>T (n.4459+5722C>T) c.4405+5722C>T (n.4405+5722C>T) c.6138C>T (p.Ala2046=) c.4498+5722C>T (n.4498+5722C>T) c.6126C>T (p.Ala2042=) c.6120C>T (p.Ala2040=) c.6081C>T (p.Ala2027=) c.6060C>T (p.Ala2020=) c.6039C>T (p.Ala2013=) c.6027C>T (p.Ala2009=) c.4471+5722C>T (n.4471+5722C>T) c.4462+5758C>T (n.4462+5758C>T) c.4435+5758C>T (n.4435+5758C>T) c.3486C>T (p.Ala1162=) c.3474C>T (p.Ala1158=) c.4342+5722C>T (n.4342+5722C>T) c.6123C>T (p.Ala2041=) c.6111C>T (p.Ala2037=) c.6087C>T (p.Ala2029=) c.6045C>T (p.Ala2015=) c.6006C>T (p.Ala2002=) c.5979C>T (p.Ala1993=) c.4390+5722C>T (n.4390+5722C>T) c.4369+5758C>T (n.4369+5758C>T) c.4339+5722C>T (n.4339+5722C>T) c.4366+5722C>T (n.4366+5722C>T) c.6084C>T (p.Ala2028=) c.6075C>T (p.Ala2025=) c.6072C>T (p.Ala2024=) c.6021C>T (p.Ala2007=) c.6009C>T (p.Ala2003=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.60074815G>T | CA469993039 | ANK3 | c.4489+5722C>A (n.4489+5722C>A) c.4408+5722C>A (n.4408+5722C>A) c.6066C>A (p.Ala2022=) c.1807+5722C>A (n.1807+5722C>A) c.181+5722C>A (n.181+5722C>A) c.4387+5722C>A (n.4387+5722C>A) c.84+5722C>A c.3097C>A c.1223+5758C>A c.4459+5722C>A (n.4459+5722C>A) c.4405+5722C>A (n.4405+5722C>A) c.6138C>A (p.Ala2046=) c.4498+5722C>A (n.4498+5722C>A) c.6126C>A (p.Ala2042=) c.6120C>A (p.Ala2040=) c.6081C>A (p.Ala2027=) c.6060C>A (p.Ala2020=) c.6039C>A (p.Ala2013=) c.6027C>A (p.Ala2009=) c.4471+5722C>A (n.4471+5722C>A) c.4462+5758C>A (n.4462+5758C>A) c.4435+5758C>A (n.4435+5758C>A) c.3486C>A (p.Ala1162=) c.3474C>A (p.Ala1158=) c.4342+5722C>A (n.4342+5722C>A) c.6123C>A (p.Ala2041=) c.6111C>A (p.Ala2037=) c.6087C>A (p.Ala2029=) c.6045C>A (p.Ala2015=) c.6006C>A (p.Ala2002=) c.5979C>A (p.Ala1993=) c.4390+5722C>A (n.4390+5722C>A) c.4369+5758C>A (n.4369+5758C>A) c.4339+5722C>A (n.4339+5722C>A) c.4366+5722C>A (n.4366+5722C>A) c.6084C>A (p.Ala2028=) c.6075C>A (p.Ala2025=) c.6072C>A (p.Ala2024=) c.6021C>A (p.Ala2007=) c.6009C>A (p.Ala2003=) | dbSNP |