| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.75030025_75030034dup | CA232614 | DUSP29,KAT6B | c.5201_5210dup (p.Gln1737HisfsTer?) c.4652_4661dup (p.Gln1554HisfsTer?) c.4325_4334dup (p.Gln1445HisfsTer?) n.577-3431_577-3422dup c.*3622-3431_*3622-3422dup (n.*3622-3431_*3622-3422dup) c.5039_5048dup (p.Gln1683HisfsTer?) c.4163_4172dup (p.Gln1391HisfsTer?) c.3512_3521dup (p.Gln1174HisfsTer?) c.3116_3125dup (p.Gln1042HisfsTer?) c.2858_2867dup (p.Gln956HisfsTer?) c.4136_4145dup (p.Gln1382HisfsTer?) | ClinVar dbSNP |
| 10 | g.75030025_75030034del | CA2609745628 | DUSP29,KAT6B | c.5201_5210del (p.Met1734LysfsTer?) c.4652_4661del (p.Met1551LysfsTer?) c.4325_4334del (p.Met1442LysfsTer?) n.577-3431_577-3422del c.*3622-3431_*3622-3422del (n.*3622-3431_*3622-3422del) c.5039_5048del (p.Met1680LysfsTer?) c.4163_4172del (p.Met1388LysfsTer?) c.3512_3521del (p.Met1171LysfsTer?) c.3116_3125del (p.Met1039LysfsTer?) c.2858_2867del (p.Met953LysfsTer?) c.4136_4145del (p.Met1379LysfsTer?) | dbSNP gnomAD v4 |