Index | Phenotype | Gene | Mutation | Allele State | Read reference NGS | Read variant NGS | Mutation detected by NGS | Mean depth |
---|---|---|---|---|---|---|---|---|
CIC00034, F28 | adRP | PRPF31 | c.666dup p.I223YfsX56 | het | 11 | 13 | yes | 21.3-22.5 |
CIC00140, F108 | adRP | PRPF31 | c.997delG p.E333SfsX5 | het | - | - | no | 5.0-5.2 |
CIC00238, F165 | arCSNB | TRPM1 | c.1418G > C p.R473P | homo | 0 | 38 | yes | 36.7 |
CIC00707, F470 | Best and adCSNB see Table 5 | BEST1 | c.73C > T p.R25W | het | 40 | 38 | yes | 99.4 |