Supp. Table S1

Exon-flanking primers for the amplification of the human CEP290, CRB1, RPE65, GUCY2D, AIPL1, CRX, RDH12, RPGRIP1 and AHI1 genes and for the c.2991+1655A>G mutation in CEP290

GeneExonForward primer (5′-3′)Reverse primer (5′-3′)
Exon 2tttgtggcccaattgtctgccacctaagtaaacagaaaagcaac
Exon 3ccaaggtgcttaattggtcatttcccctacacaccctttt
Exon 4tttactgaacgtctccatgtgctggcagatccataaaataggag
Exon 5ttctagactcctattttatggatctgcttcacaaccatatgctcagtcc
Exon 6atctgcactgaagtataatgctggtgatgacaaaatgaaca
Exon 7ggtgggagaattgcttgaacacccgcatagacctgagatg
Exon 8ttggttctactgagccaaataatgtctgaaggtaaccaaacacaaca
Exon 9ggtgaggctttaagtgtggtgcttaatgaccaagacaggcaaa
Exon 10tggtcaatgccaattagtaaagggtgaggtgattggagaaacaca
Exon 11ttccaggatgacttcaatgataaaaactcattgatgtgaaagaggtca
CEP290Exon 12cagagattatgccagtagttgctcttgggaccaggtggtagaag
Exon 13aaaaggcatacttgtacccacatccatcatttacaaatgtaagcac
Exon 14aatggcataccacttttcttgctggcaaaaagtaaatgctcaaag
Exon 15gcatatgtacattttcctttagacactccaaccccataaaatct
Exon 16tcacagaaagttacctcattcttccctctttcttgagccatttg
Exon 17tgtaggccttgaaccaaagacttcaggactgaacccactgac
Exon 18ggatcacgaggtcagaagataaatgagaagcttgtattggct
Exon 19gggattaagatcaccatctgcacagcaaggcaaatcaactg
Exon 20aactcaactattcacgttggatttttgaaagcagctcaagaaaaac
Exon 21tatcatgcttggcaatgaatcttataaggcacttattttccac
Exon 22ggcatttctaagcagaaactgaaatctgcatgctttggtgatg
Exon 23tgtgttgcttacagatttggtgacaggataatcccaggcttaatg
Exon 24tgataactttgttgccttgcattccgaatccatctgaagagc
Exon 25gatcaagtccaacaagatgccagaagaagcaattatgacaaa
Exon 26tgcatgtttttcttacatggaaatgcaggcaaactttaat
Intron 26cattagaaagtcctaggcaagagacatcagtaaggaggatgtaagactggagatagag
Exon 27ggacacagccaaaccatatccaggattattcatctgcctaagtt
Exon 28tccatggaactataatgctttctctgctttccttttaaacaattc
Exon 29tttaccctccttcagtctgttcttaaccctgttaaaaccgatct
Exon 30gcaaacatgataacctctgatggctgggcaacagaatgagacc
Exon 31_1agttccagctatgtttgcacctcgtttggagggaagaaac
Exon 31_2ccaagggtaaagctccactattgtagatctcatgtgccact
Exon 32caggagaatggcatgaaccatcattatcatcaatggaggaatgt
Exon 33tcacctctctgagtttgtattcagttgcagcattgagagtaa
Exon 34atcttgtttgttactctgtagcattggctattagaaacattataggag
Exon35_1aagcatgcaaataactgctgtcaccttgcttgcatgtttgc
Exon35_2aatcaatgaactgaggcttcgggtgtaatccaatcacatgcaa
Exon 36gaggggacatgcataccagtcggtgagctacaggaggaag
Exon 37tttgatcatttgaggaaccaaaccagcagtcctgaggataaa
Exon 38gttgcagtcagccgagattgactttttattacaacacggagat
Exon 39ttcaatgtggaaagaattgagtgtgtctagccaccaacagtgc
Exon 40_1tcctcaaggtagacttgacatgaattgccttttcagttcatcattc
Exon 40_2ctactacctctatattgtaaatcagacattgtgggtgtttgttgaaga
Exon 41aaaatgcagaagcagctaccattcaatactgcttatagtcctcaa
Exon 42tcaacctgtatagcaaaatgaacacgagatcacaggaaaatcca
Exon 43tggattttcctgtgatctcgtcaattcacatgggaaaagaaa
Exon 44catttaaaggaggccttcagtgtgagaaagatgtaatgcttttgg
Exon 45ggctttcaccagaacactccggccttcaacaaataaatgct
Exon 46tgcatcaggcaataatgtggcagatgcagaataaacactgaaa
Exon 47_1gctgcatgattttaggaatgtccaatttttcattttcctgctca
Exon 47_2tggtagaagtggaaagacaatcccccttagccttgcctctcat
Exon 48aacgttgggaacttcgttcttggtggaatgtgatgacagc
Exon 49aggaagaaaccaggttatccattgaatacactgaatctatgagaaca
Exon 50ttgccaccactttttaatgcggggtgcccttcagttagat
Exon 51tgcttgtctctagttgtagcactaggacaatgccagttatgc
Exon 52cgtgaaggcttttgtattccaaagacccaaagcttatcaggaa
Exon 53ggagggaggcagcattaagttgttaggaatagtcagatgaaca
Exon 54tgcctttattgctgtatttgacctcggagaactgcttatttcca
Exon 1atgaatccaatccagcctgatgactgttcacattgactgg
Exon 2_1gttgaggcagcacaaaggtcgctcctttctcctggggtg
Exon 2_2caatccctgtcaaggaagtgggagtaaccatcaattccatc
Exon 2_3gagtgtgcttccagcccttggagctaactacaccatctgtg
Exon 3ctctggtaaacaaagcattgtccagggagttctaagccaatc
CRB1Exon 4agtaagatgatgccatgggttcatttgctataagcgatatgtgt
Exon 5gacttagcagcttctctgaattgtcaagtcatatcccatctcc
Exon 6 1cctgagctattcatgcacttcgaagtgagggatgcatgttcc
Exon 6_2gatattctcctgggctgtaccgaagagccattggctgaacag
Exon 6 3ggctcagtttgtaacatagccggagtcgtcgattaaggtaag
Exon 6_4ccagcgatggagagtggcactacaaacgaaggtgtggatg
Exon 6_5ggtgttgctctgcttaacttcctgctctgctctgaggcatg
Exon7_ 1gtcttccatcccttctgtcttttgggagagtttggagtca
Exon 7_2agatttggccaggatgactcaggccaccaatgtagatgac
Exon 7_3gactgaacttaatggtggattcggtgggtcagtaacatcatc
Exon 8cagatatgtggtttcaccgtcgtcgcaacttaactggtgag
Exon 9_1caatgatcattactattaataacgggtgccatcattcactgactgc
Exon 9_2tcaattgcaaagtggcaacattaactgcaaacagccagtg
Exon 9_3caatataaagggcctgcaaggctgcaactctgtcagagcag
Exon 9_4cactgtgaactcaacatcgatgcagtgatgcagagtatagcttc
Exon 10gaacaagatgaacagctgtgggctcagaattctcttccagaag
Exon 11ccaatgtattcaacagggacccaactggctcgtcattcatac
Exon 12cctttgctatagaattcgcatcgtacagtcatcacattcacag
Exon 1ctcaagactgcttccaaacctcccaaagccataactcctt
Exon 2ctatctctgcggactttgagggaagccagagaagagagac
Exon 3cccaaggcagggataagaagctaggccctactttgaggag
Exon 4ttgtcagtaacctctactcctcatggccattctaagctcca
Exon 5ggcttgaaaattactggactgctgaacatcacctagcactg
Exon 6cctagggacaaaggtataatgcacaatacagtaactttctcac
RPE65Exon 7gtatcaaaggtaggcaaagcacgtttccaaatctgctgcta
Exon 8gtggcttgagaatcagccctcatcttcttcagaatcacaaac
Exon 9caagtttgtgattctgaagaagccgtaatttccaggaacaatg
Exon 10cattgcctgtgctcatgtttgcctgagagagatgaaacattc
Exon 11gaattctttcctgctcactgaggagcacatgcttaggaaaactc
Exon 12caaagatgggttctgatgggcctcgtcaaggtgagatga
Exon 13acgaactaacatacagaactgctcactttgttccagatagggt
Exon 14gacattcaatctatagcttggggcagacctgaagctgattttc
Exon 2_1catgggttactcgggcttggagaagatggggtcgcaag
Exon 2_2atcatcccatgggttactcggcgatcccggcttctt
Exon 2_3tcgtgggtccggtgaagtagtggatcgtgtcgaagg
Exon 3ggacggcgccgcgagccaagtcccctctcccttgccttct
Exon 4gtgggctgtgaccccgacctggtccatggcgattgtctc
Exon 5ctatcattcccagcctctccttgctgcagacttccatttc
Exon 6gacggaacttggtgcccttggggaaggaaccaaatttacgga
Exon 7ctcagcctgacctcaacccatcctcctgagagtgcgcctc
Exon 8gcattctgggacagtgagccagaaaccgatggccacctag
GUCY2DExon 9ccccacattgccctgggcagacctgcccccaggacgtcacc
Exon 10agcaggctgaggctgcctctcccggtggatcctcgtctgc
Exon 11ctttctctgagatggctccttttagaggaaagagtgaggct
Exon 12caggccagggtcagaggcagcctcaggttgctgacaagcat
Exon 13cagctttaccagcttccttcgcaggcagtgaggtcacctg
Exon 14gaccggctgcttacacagctggaggctggtgaag
Exon 15ggcaatcgcttcgtgtactcgatgggctggagcctgggaa
Exon 16ccccgaggccctacctaggtacctccccgtcttgtccccg
Exon 17gcatctccacaggtccatagggtgagctgaggtttg
Exon 18caaacctcagctcaccctttctaagtcagaaagggatcgg
Exon 19gatgacgtgggccctgccctccccttgggtgggacgttctgcag
Exon 1gcacacctggaatgttgaaaaaggtggatgggataggag
Exon 2gggccttgaacagtgtgtcttttcccgaaacacagcagc
AIPL1Exon 3agtgagggagcaggattctgcccatgatgcccgctgtc
Exon 4ctcctgcccagggagagggagatgtgccacagg
Exon 5aaagtccaggaaggctatggtaaggaacctgcagaccaag
Exon 6ctgggaagggagctgtagaaaagtgacaccacgatcc
Exon 2gtgcacgtcaccccatggtgagtaaccagaggtcctccaagagatgaggcc
CRXExon 3gtagaagggcagggaatgtctcctcccatcactctttgt
Exon 4_1gctggatgcaaagtagacagccatgggagaaaggtaggg
Exon 4_2tctccgagctcctatttcaggatctaaactgcagggaagc
Exon 3ggagaggagcagagaagcaggcttccagtgcaggtctttg
Exon 4tcttagtgtgagctcgtgaaggttctagtcagagcccccaag
Exon 5cccagtcccaagctcacttatagtggggtggatgatggtt
RDH12Exon 6gggcaattatgcaggtctgtccctggacattctccacatt
Exon 7aattggttcacacccagaagatgacttcccaagttgctgtg
Exon 8tcctgagtccctccttctcatcatcaggcacaaactcagc
Exon 9gggaccataaagatttccagactttagggttggccttctcc
Exon 1tgctgagaaattcctgctacaatctgtgaaggccagcaagat
Exon 2tgagacatctaaagggttcaaaaacagtctatcgacatgtttggc
Exon 3tgtactggggacagaaggctaaaacgtggctggcacatc
Exon 4cagcccttcatgttccagttttccctgatcatgctgaaaa
Exon 5ccaaggttactgattcacttaatttccctctgagatggaggaaagg
Exon 6cgtgatgagaaatgggagaaacgagttgtgaggcttggatt
RPGRIP1Exon 7agtgtgctaagtaacagtacctatttgctccagcaataggc
Exon 8caaagtcattctttgtgacatctgggagcttcgtttttgtcattt
Exon 9ggaaaatcctcattaatcccaatattgagtaccaatttccccata
Exon 10aggtccaggagatgctgaaaggatcaagtgaggggattaaa
Exon 11ttttgttttcggagtgcaaggttttctaatctcatcatcttccc
Exon 12agtttctgctgctggcatttggacagccattgtgtgtttg
Exon 13gggtctgcaaggaaatcaaaatgagaggcacccttcttga
Exon 14cacaacttggacttccaccaggggaatacagatggtgtgg
Exon 15agcaccaatgcagaatttccgatgtagctcgctccaaagg
Exon 16gctcttcctcaccacagatcctctgctctgttgctcttgaca
Exon 17ggtgctgacaaatgctcactcacatgacactcacagaggga
Exon 18tcccaaatccctttcttgtgtgtctgcttctgcttctgct
Exon 19aaagaaggcaggaaggaaggcttgaaagcctgatctcgtg
Exon 20tgaccagacagtggattggatgcattttccatcagcttca
Exon 21tgggttaattggatggcgtaattcaccccacaaaaatcca
Exon 22ccatgaataccactaatgaaagtctcatcagcacaaaaccaaactc
Exon 23aaatggaggcaagggaaaaggggataagatttcaatccactttg
Exon 24cattcatttagcatccccagtggtactggagaaaaatgcctttag
Exon 1_1agggcactgtcatgatctccggtaaacatgtcccgctgtg
Exon 1_2tcagtgccatcagaacagactggctggactggcaacaatg
Exon 1_3cacagcgggacatgtttaccggcaggagaattgcttgacc
Exon 1_4ggaacattgttgccagtccacgtggcctttgagttcagtt
Exon 1_5tctgggcatagcatcacacaatgctaacaatgtttgagaggca
Exon 2tttgtccttgctgaccatgcggccctagatcaaagcctca
AHI1Exon 3tgggtgacacagcaagactctggtcacatacctgaaagctga
Exon 4actttgggtccttgtcccatagcaggtccctggtaaatgt
Exon 5aactgtgcatgaggcaggtagcaaaccttgagacagcct
Exon 6agagaaatgaagcataatggcctacacatcttgcgctattgct
Exon 7tttgccctttaatgggatgtgatgacctatcatgtgtcctggt
Exon 8tggtgcattccagttctttggtgccatttgtttgggcaagt
Exon 9aggtgtggtcatctggttcacccatcccagtttacatggc
Exon 10aattgcggacacgaaagacagaggagggtcagtggaatgt
Exon 11tgtgttagcctccattaaacgcaaactccctgggctcttgg
Exon 12actgccagatgttccttggtcagccctaaactgacgttactc
Exon 13atgccacagtgcaaatgggacacatgtactgagaggctcat
Exon 14gcccggccaccatattattcggttcattggctgtgttggt
Exon 15gcaccactggattctacccttgtgctgcaaatgtctttggt
Exon 16gctatcaactagccacattggactggcagtgatggctttagagt
Exon 17ggcctccagaactgtgagaaggtgaagaagcagaaacaaagga
Exon 18tcaactcctgctttaaatcaaccttgttcagcgtgaaatctggca
Exon 19ggcatggctgtttgtgtcttatggaccctccctaactgaatg
Exon 20cgtctcacttgattccacagctcatgttacccaggctggtc
Exon 21tgaggcagtagaatcgcttgaggtttgctgttgtctggctt
Exon 22gagatcgtgccactgcattccatttacttggcagcagggt
Exon 23ggcagatgcccttaaatgtctcttccactcttttggcaat
Exon 24agcacaatgaaggaaagccatcatcttgtagcaccgaatgtt
Exon 25cctgtaggacagcactcaagaacaggctaggcacaccttag
Exon 26ccttgtccatctgagtcccaatcactgtgagtgtgctaccc
Exon 27ggaatgctaaacgcagcacagctgatagcgtagtgaccga
Exon 28cgtcggtcactacgctatcatttccctgcgctagctacaa
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