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These efforts have generated an extensive literature that was recently re- viewed by Loo et al. [455] Mutationa 3630GA Effect on Coding Sequenceb Location of Mutation Predicted Effect on COL4A5 Protein Juvenile Hearing Eye Adult Loss Lesions References 36561GC 36561GCc Gly1143Asp 5 splice signal Exon 38 Intron 38 Gly X Y interruption Incorrect splicing, Exon 38 J - 19 J - 18,180 3683GA 37103711delG 37283729delG 3740CT 3745del7 3746GC 3756-9CG 3756-3CG 5 splice signal Gly1161Arg Frameshift Gly1170 Frameshift Gly1176 Gln1180Stop Frameshift Lys1181 Binary options new york Intron 38 Exon 39 Exon 39 Exon 39 Exon 39 Exon 39 Exon 39 Intron 39 Intron 39 spliced out Incorrect splicing Gly X Y interruption Premature stop, shorter protein Premature stop, shorter protein Premature stop, shorter protein Premature stop, shorter protein Gly X Y interruption Incorrect splicing Incorrect splicing J - 19 J 206 3756-1GA 3788GA 3807-2AT 3807-1GA 3815GT 38143816delG 3819del4 3833GC 3834GAe 38483849delC 3861GA 38923894delC 3912del52 3912insCC 3923GTc 3956GA 3959ins4 3984GA 399239921delG 3993-1GA Intron 39 Exon 40 Intron 40 Intron 40 Exon 41 Exon 41 Exon 41 Exon 41 Exon 41 Exon 41 Exon 41 Exon 41 Exon 41 Exon 41 Exon 41 Exon 41 Exon 41 Exon 41 Intron 41 Intron 41 Incorrect splicing Gly X Y interruption Incorrect splicing Incorrect splicing Gly X Y interruption Premature stop, shorter protein Premature stop, shorter protein Gly X Y interruption Gly X Y interruption Premature stop, shorter protein Gly X Y interruption Premature stop, shorter protein Premature stop, shorter protein Premature stop, shorter protein Gly X Y interruption Gly X Y interruption Premature stop, shorter protein Gly X Y interruption Incorrect splicing Incorrect splicing, Exon 42 J - J - J J 17 19 17 17 17 18,183 4010GA 40164017delC Gly1270Ser Frameshift Pro1272 Exon 42 Exon 42 shorter protein Gly X Y interruption Premature stop, shorter protein J 18 15,18,181 3 splice signal 3 splice signal J - 15,18,182 J Retinal abnormalities 16,18 J Anterior lenticonus 19 3 splice signal Gly1196Arg 3 splice signal 3 splice signal Gly1205Cys Frameshift Gly1205 Frameshift Asp1206 Gly1211Arg Gly1211Glu Frameshift Pro1216 Gly1220Asp Frameshift Pro1231 Frameshift Pro1237 Frameshift Gly1238 Gly1241Cys Gly1252Ser Frameshift Asn1253 Gly1261Glu A Anterior lenticonus, 19 cataracts 5 splice signal 3 splice signal - A - - J - 16,18 19 17 18,152,183 TABLE 3.

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