Patient number | Allele 1 | Allele 2 | ||||
---|---|---|---|---|---|---|
Variant | Consequence | Origin | Variant | Consequence | Origin | |
Patient 1 | c.990C>T; p.Leu330Leu | Loss of exon 9, early termination | Paternal | c.745-350_1288+ 1117del | Loss of exons 8, 9 and 10, early termination | Maternal |
Patient2 | c.130dupC; p.His44Profs*8 | Early termination | Paternal | c.745-350_1288+ 1117del | Loss of exons 8, 9 and 10, early termination | Maternal |
Patient3 | c.428delG; p.Arg143Lysfs*4 | Early termination | Paternal (?) | c.745-350_1288+ 1117del | Loss of exons 8, 9 and 10, early termination | Maternal |
Patient 4 | c.428delG; p.Arg143Lysfs*4 | Early termination | Maternal | c.1159C>T; p.Gln387* | Early termination | Paternal |
Patient 5 | c.428delG; p.Arg143Lysfs*4 | Early termination | Maternal | c.1413-1G>C | Skipping of exon 12 | Paternal |
Patient 6 | c.428delG; p.Arg143Lysfs*4 | Early termination | Maternal | c.1120+1G>A | Early termination | Paternal (?) |
Mutations nomenclature is based on GenBank: NM_001244189.1.