Patients | Origin | cDNA level | Protein level |
---|---|---|---|
Family 1 | Netherlands | c.2365delC (exon 34) | p.(Arg789GlyfsX30) |
Family 2 | Switzerland | c.2189delG (exon 30) | p.(Gly730AlafsX25) |
Family 3 | France | c.2262delA (exon32) | p.(Gly156ValfsX63) |
Family 4 | France | c.2262delA (exon32) | p.(Gly156ValfsX63) |
Family 5 | France | c.2262delA (exon32) | p.(Gly156ValfsX63) |
Sporadic case | France | c.2142delG (exon 30) | p.(Leu715Serfsx40) |
Family 6 | France | c.2262delA (exon32) | p.(Gly156ValfsX63) |