| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.47002756dup | CA129696 | NBEAL2 | c.5413dup (p.Ala1805GlyfsTer?) c.5311dup (p.Ala1771GlyfsTer?) c.3276dup c.518dup c.1885dup (p.Ala629GlyfsTer?) c.5332dup (p.Ala1778GlyfsTer?) c.5392dup (p.Ala1798GlyfsTer?) c.5044dup (p.Ala1682GlyfsTer?) c.4873dup (p.Ala1625GlyfsTer?) c.4759dup (p.Ala1587GlyfsTer?) c.4321dup (p.Ala1441GlyfsTer?) n.5589dup n.5603dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.47002756del | CA2665494921 | NBEAL2 | c.5413del (p.Ala1805ArgfsTer15) c.5311del (p.Ala1771ArgfsTer15) c.3276del c.518del c.1885del (p.Ala629ArgfsTer15) c.5332del (p.Ala1778ArgfsTer15) c.5392del (p.Ala1798ArgfsTer15) c.5044del (p.Ala1682ArgfsTer15) c.4873del (p.Ala1625ArgfsTer15) c.4759del (p.Ala1587ArgfsTer15) c.4321del (p.Ala1441ArgfsTer15) n.5589del n.5603del | dbSNP gnomAD v4 |