Table 4

 Frequency of known and new polymorphisms in patients with juvenile autosomal recessive retinitis pigmentosa, Leber’s congenital amaurosis, and juvenile isolated retinitis pigmentosa in this study

GeneExon/intronSequence variation (official name39)Sequence variation (traditional name)Predicted effect (official name39)Allele frequency in patients (%)Reference
Polymorphisms described in bold have either not been reported before or have been described as disease causing missense mutations (*).
AIPL1 ex 3 c.286GA286GA p.Val96Ile 1.3 13, this study*
CRB1 IVS3 c.283−35TCIVS3-35CT 2.6 This study
IVS4 c.330+34CTIVS4+34CT 5.3 This study
IVS4 c.330-54CAIVS4-54CA 2.6 This study
ex 2 c.6147TC6147TC p.Ile205Thr 1.3 44, this study*
GUCY2D ex 3 c.814CT814CT p.His247His 19.7 This study
ex 9 c.2011CT2011CT p.Leu646Leu 1.3 This study
ex 2c.134T→C134T→Cp.Trp21Arg10.546
ex 2c.227G→T227G→Tp.Ala52Ser9.216
ex 10c.2182G→A2182G→Ap.Ala703Ala15.847
ex 12c.2419C→A2419C→Ap.Leu782His15.847
ex 20c.3528C→T3528C→T39.547
RPE65 ex 10c.1056G→A1056G→Ap.Glu352Glu7.94
RPGRIP1 IVS6 c.302-16_-15insATA IVS6-16̂-15insATA 6.6 This study
IVS6 c.907-153_-154delGG IVS6-153_-154delGG 10.5 This study
ex 4c.525A→G525A→Gp.Pro175Pro5.319
ex 4c.574A→G574A→Gp.Lys192Glu9.219
ex 13 c.1639GT1639GT p.Ala547Ser 14.5 19, 45, this study*
ex 14c.1797G→A1797G→Ap.Pro599Pro18.419
ex 15c.2292GA2292G→Ap.Ala764Ala2.631
ex 18c.3097G→C3097G→Cp.Gln1033Glu23.719
ex 22c.3546C→T3546C→Tp.Asp1182Asp6.619