| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109561048_109561051dup | CA683438237 | MMAB | c.574_577dup (p.Glu193GlyfsTer27) c.*139_*142dup (n.*139_*142dup) c.418_421dup (p.Glu141GlyfsTer27) c.799_802dup (n.799_802dup) c.*455_*458dup (n.*455_*458dup) n.734_737dup c.419_422dup (p.Glu142ProfsTer22) c.301_304dup (p.Glu102GlyfsTer27) c.298_301dup (p.Glu101GlyfsTer27) c.574_577dup (p.Glu193GlyfsTer?) n.685_688dup | dbSNP |
| 12 | g.109561048_109561051del | CA2062448112 | MMAB | c.574_577del (p.Ala192ArgfsTer21) c.*139_*142del (n.*139_*142del) c.418_421del (p.Ala140ArgfsTer21) c.799_802del (n.799_802del) c.*455_*458del (n.*455_*458del) n.734_737del c.419_422del (p.Gly140GlufsTer?) c.301_304del (p.Ala101ArgfsTer21) c.298_301del (p.Ala100ArgfsTer21) n.685_688del | ClinVar dbSNP gnomAD v4 |