| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37153973G>A | CA277737 | CPLANE1 | n.1139C>T c.8140C>T (p.Arg2714Ter) c.7978C>T (p.Arg2660Ter) c.5152C>T (p.Arg1718Ter) n.382C>T n.431C>T c.1254C>T c.5176C>T (p.Arg1726Ter) n.392C>T c.8137C>T (p.Arg2713Ter) c.8029C>T (p.Arg2677Ter) c.8011C>T (p.Arg2671Ter) c.4783C>T (p.Arg1595Ter) c.2713C>T (p.Arg905Ter) c.8086C>T (p.Arg2696Ter) c.8032C>T (p.Arg2678Ter) c.7822C>T (p.Arg2608Ter) c.7468C>T (p.Arg2490Ter) c.5365C>T (p.Arg1789Ter) n.8315C>T c.7951C>T (p.Arg2651Ter) c.7147C>T (p.Arg2383Ter) c.6952C>T (p.Arg2318Ter) n.8309C>T n.8255C>T n.8364C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37153973G= | CA1539651459 | CPLANE1 | n.1139C= c.8140C= (p.Arg2714=) c.7978C= (p.Arg2660=) c.5152C= (p.Arg1718=) n.382C= n.431C= c.1254C= c.5176C= (p.Arg1726=) n.392C= c.8137C= (p.Arg2713=) c.8029C= (p.Arg2677=) c.8011C= (p.Arg2671=) c.4783C= (p.Arg1595=) c.2713C= (p.Arg905=) c.8086C= (p.Arg2696=) c.8032C= (p.Arg2678=) c.7822C= (p.Arg2608=) c.7468C= (p.Arg2490=) c.5365C= (p.Arg1789=) n.8315C= c.7951C= (p.Arg2651=) c.7147C= (p.Arg2383=) c.6952C= (p.Arg2318=) n.8309C= n.8255C= n.8364C= | dbSNP |
| 5 | g.37153973G>C | CA359474377 | CPLANE1 | n.1139C>G c.8140C>G (p.Arg2714Gly) c.7978C>G (p.Arg2660Gly) c.5152C>G (p.Arg1718Gly) n.382C>G n.431C>G c.1254C>G c.5176C>G (p.Arg1726Gly) n.392C>G c.8137C>G (p.Arg2713Gly) c.8029C>G (p.Arg2677Gly) c.8011C>G (p.Arg2671Gly) c.4783C>G (p.Arg1595Gly) c.2713C>G (p.Arg905Gly) c.8086C>G (p.Arg2696Gly) c.8032C>G (p.Arg2678Gly) c.7822C>G (p.Arg2608Gly) c.7468C>G (p.Arg2490Gly) c.5365C>G (p.Arg1789Gly) n.8315C>G c.7951C>G (p.Arg2651Gly) c.7147C>G (p.Arg2383Gly) c.6952C>G (p.Arg2318Gly) n.8309C>G n.8255C>G n.8364C>G | dbSNP gnomAD v4 |