Allele1 | Â | Â | Allele2 | Â | Â | Â |
---|---|---|---|---|---|---|
Nucleotide change | Consequence or amino change | Category | Nucleotide change | Consequence or amino change | Category | Number of patients |
c.235delC | Frameshift | Pathogenic | c.235delC | Frameshift | Pathogenic | 20 |
c.139G > T | Glu at 47 into Stop | Pathogenic | c.139G > T | Glu at 47 into Stop | Pathogenic | 1 |
c.176del16 | Frameshift | Pathogenic | c.176del16 | Frameshift | Pathogenic | 1 |
c.299del AT | Frameshift | Pathogenic | c.299delAT | Frameshift | Pathogenic | 2 |
c.512insAACG | Frameshift | Pathogenic | c.512insAACG | Frameshift | Pathogenic | 1 |
c.235delC | Frameshift | Pathogenic | c.299delAT | Frameshift | Pathogenic | 3 |
c.176del16 | Frameshift | Pathogenic | c.235delC | Frameshift | Pathogenic | 1 |
c.235delC | Frameshift | Pathogenic | c.512insAACG | Frameshift | Pathogenic | 1 |
c.35insG | Frameshift | Pathogenic | c.512insAACG | Frameshift | Pathogenic | 1 |
c.139G > T | Glu at 47 into Stop | Pathogenic | c.299delAT | Frameshift | Pathogenic | 1 |
c.9G > A |  | Pathogenic | c.235delC | Frameshift | Pathogenic | 1 |
c.11G > A |  | Pathogenic | c.235delC | Frameshift | Pathogenic | 1 |
c.235delC | Frameshift | Pathogenic | Â | Â | Â | 5 |
c.512insAACG | Frameshift | Pathogenic | Â | Â | Â | 1 |
c.431-450del19 | Novel | Â | Â | Â | Â | 1 |