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. 2010 Oct;31(10):E1709–E1766. doi: 10.1002/humu.21336

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

Gene Exon Forward primer (5′-3′) Reverse primer (5′-3′)

Exon 2 tttgtggcccaattgtctg ccacctaagtaaacagaaaagcaac

Exon 3 ccaaggtgcttaattggtca tttcccctacacaccctttt

Exon 4 tttactgaacgtctccatgtgc tggcagatccataaaataggag

Exon 5 ttctagactcctattttatggatctgc ttcacaaccatatgctcagtcc

Exon 6 atctgcactgaagtataatgc tggtgatgacaaaatgaaca

Exon 7 ggtgggagaattgcttgaac acccgcatagacctgagatg

Exon 8 ttggttctactgagccaaataatg tctgaaggtaaccaaacacaaca

Exon 9 ggtgaggctttaagtgtggtg cttaatgaccaagacaggcaaa

Exon 10 tggtcaatgccaattagtaaagg gtgaggtgattggagaaacaca

Exon 11 ttccaggatgacttcaatgataaa aactcattgatgtgaaagaggtca

CEP290 Exon 12 cagagattatgccagtagttgctc ttgggaccaggtggtagaag

Exon 13 aaaaggcatacttgtacccaca tccatcatttacaaatgtaagcac

Exon 14 aatggcataccacttttcttgc tggcaaaaagtaaatgctcaaag

Exon 15 gcatatgtacattttcctttagac actccaaccccataaaatct

Exon 16 tcacagaaagttacctcattcttc cctctttcttgagccatttg

Exon 17 tgtaggccttgaaccaaagac ttcaggactgaacccactgac

Exon 18 ggatcacgaggtcagaagat aaatgagaagcttgtattggct

Exon 19 gggattaagatcaccatctgc acagcaaggcaaatcaactg

Exon 20 aactcaactattcacgttggattt ttgaaagcagctcaagaaaaac

Exon 21 tatcatgcttggcaatgaa tcttataaggcacttattttccac

Exon 22 ggcatttctaagcagaaactgaa atctgcatgctttggtgatg

Exon 23 tgtgttgcttacagatttggtga caggataatcccaggcttaatg

Exon 24 tgataactttgttgccttgcat tccgaatccatctgaagagc

Exon 25 gatcaagtccaacaagatgc cagaagaagcaattatgacaaa

Exon 26 tgcatgtttttcttacatgg aaatgcaggcaaactttaat

Intron 26 cattagaaagtcctaggcaagagacatc agtaaggaggatgtaagactggagatagag

Exon 27 ggacacagccaaaccatatc caggattattcatctgcctaagtt

Exon 28 tccatggaactataatgctttc tctgctttccttttaaacaattc

Exon 29 tttaccctccttcagtctgttc ttaaccctgttaaaaccgatct

Exon 30 gcaaacatgataacctctgatgg ctgggcaacagaatgagacc

Exon 31_1 agttccagctatgtttgcac ctcgtttggagggaagaaac

Exon 31_2 ccaagggtaaagctccacta ttgtagatctcatgtgccact

Exon 32 caggagaatggcatgaacc atcattatcatcaatggaggaatgt

Exon 33 tcacctctctgagtttgtatt cagttgcagcattgagagtaa

Exon 34 atcttgtttgttactctgtagcat tggctattagaaacattataggag

Exon35_1 aagcatgcaaataactgctgtc accttgcttgcatgtttgc

Exon35_2 aatcaatgaactgaggcttcg ggtgtaatccaatcacatgcaa

Exon 36 gaggggacatgcataccagt cggtgagctacaggaggaag

Exon 37 tttgatcatttgaggaaccaaa ccagcagtcctgaggataaa

Exon 38 gttgcagtcagccgagattg actttttattacaacacggagat

Exon 39 ttcaatgtggaaagaattgagtg tgtctagccaccaacagtgc

Exon 40_1 tcctcaaggtagacttgacatgaa ttgccttttcagttcatcattc

Exon 40_2 ctactacctctatattgtaaatcagaca ttgtgggtgtttgttgaaga

Exon 41 aaaatgcagaagcagctacca ttcaatactgcttatagtcctcaa

Exon 42 tcaacctgtatagcaaaatgaaca cgagatcacaggaaaatcca

Exon 43 tggattttcctgtgatctcg tcaattcacatgggaaaagaaa

Exon 44 catttaaaggaggccttcagtg tgagaaagatgtaatgcttttgg

Exon 45 ggctttcaccagaacactcc ggccttcaacaaataaatgct

Exon 46 tgcatcaggcaataatgtgg cagatgcagaataaacactgaaa

Exon 47_1 gctgcatgattttaggaatgtc caatttttcattttcctgctca

Exon 47_2 tggtagaagtggaaagacaatcc cccttagccttgcctctcat

Exon 48 aacgttgggaacttcgttct tggtggaatgtgatgacagc

Exon 49 aggaagaaaccaggttatcca ttgaatacactgaatctatgagaaca

Exon 50 ttgccaccactttttaatgc ggggtgcccttcagttagat

Exon 51 tgcttgtctctagttgtagca ctaggacaatgccagttatgc

Exon 52 cgtgaaggcttttgtattcca aagacccaaagcttatcaggaa

Exon 53 ggagggaggcagcattaagt tgttaggaatagtcagatgaaca

Exon 54 tgcctttattgctgtatttgacc tcggagaactgcttatttcca

Exon 1 atgaatccaatccagcctga tgactgttcacattgactgg

Exon 2_1 gttgaggcagcacaaaggtc gctcctttctcctggggtg

Exon 2_2 caatccctgtcaaggaagtg ggagtaaccatcaattccatc

Exon 2_3 gagtgtgcttccagcccttg gagctaactacaccatctgtg

Exon 3 ctctggtaaacaaagcattgtc cagggagttctaagccaatc

CRB1 Exon 4 agtaagatgatgccatgggt tcatttgctataagcgatatgtgt

Exon 5 gacttagcagcttctctgaatt gtcaagtcatatcccatctcc

Exon 6 1 cctgagctattcatgcacttc gaagtgagggatgcatgttcc

Exon 6_2 gatattctcctgggctgtacc gaagagccattggctgaacag

Exon 6 3 ggctcagtttgtaacatagcc ggagtcgtcgattaaggtaag

Exon 6_4 ccagcgatggagagtggca ctacaaacgaaggtgtggatg

Exon 6_5 ggtgttgctctgcttaacttc ctgctctgctctgaggcatg

Exon7_ 1 gtcttccatcccttctgtct tttgggagagtttggagtca

Exon 7_2 agatttggccaggatgactc aggccaccaatgtagatgac

Exon 7_3 gactgaacttaatggtggattc ggtgggtcagtaacatcatc

Exon 8 cagatatgtggtttcaccgtc gtcgcaacttaactggtgag

Exon 9_1 caatgatcattactattaataacgg gtgccatcattcactgactgc

Exon 9_2 tcaattgcaaagtggcaaca ttaactgcaaacagccagtg

Exon 9_3 caatataaagggcctgcaagg ctgcaactctgtcagagcag

Exon 9_4 cactgtgaactcaacatcgatg cagtgatgcagagtatagcttc

Exon 10 gaacaagatgaacagctgtgg gctcagaattctcttccagaag

Exon 11 ccaatgtattcaacagggacc caactggctcgtcattcatac

Exon 12 cctttgctatagaattcgcatc gtacagtcatcacattcacag

Exon 1 ctcaagactgcttccaaacc tcccaaagccataactcctt

Exon 2 ctatctctgcggactttgag ggaagccagagaagagagac

Exon 3 cccaaggcagggataagaag ctaggccctactttgaggag

Exon 4 ttgtcagtaacctctactcctc atggccattctaagctcca

Exon 5 ggcttgaaaattactggactg ctgaacatcacctagcactg

Exon 6 cctagggacaaaggtataatg cacaatacagtaactttctcac

RPE65 Exon 7 gtatcaaaggtaggcaaagca cgtttccaaatctgctgcta

Exon 8 gtggcttgagaatcagccct catcttcttcagaatcacaaac

Exon 9 caagtttgtgattctgaagaag ccgtaatttccaggaacaatg

Exon 10 cattgcctgtgctcatgtttg cctgagagagatgaaacattc

Exon 11 gaattctttcctgctcactgag gagcacatgcttaggaaaactc

Exon 12 caaagatgggttctgatggg cctcgtcaaggtgagatga

Exon 13 acgaactaacatacagaactgc tcactttgttccagatagggt

Exon 14 gacattcaatctatagcttggg gcagacctgaagctgattttc

Exon 2_1 catgggttactcgggcttg gagaagatggggtcgcaag

Exon 2_2 atcatcccatgggttactcg gcgatcccggcttctt

Exon 2_3 tcgtgggtccggtgaa gtagtggatcgtgtcgaagg

Exon 3 ggacggcgccgcgagccaag tcccctctcccttgccttct

Exon 4 gtgggctgtgaccccgacc tggtccatggcgattgtctc

Exon 5 ctatcattcccagcctctcc ttgctgcagacttccatttc

Exon 6 gacggaacttggtgcccttgg ggaaggaaccaaatttacgga

Exon 7 ctcagcctgacctcaaccca tcctcctgagagtgcgcctc

Exon 8 gcattctgggacagtgagcc agaaaccgatggccacctag

GUCY2D Exon 9 ccccacattgccctgggcaga cctgcccccaggacgtcacc

Exon 10 agcaggctgaggctgcctct cccggtggatcctcgtctgc

Exon 11 ctttctctgagatggctcct tttagaggaaagagtgaggct

Exon 12 caggccagggtcagaggcagc ctcaggttgctgacaagcat

Exon 13 cagctttaccagcttccttc gcaggcagtgaggtcacctg

Exon 14 gaccggctgcttacaca gctggaggctggtgaag

Exon 15 ggcaatcgcttcgtgtactc gatgggctggagcctgggaa

Exon 16 ccccgaggccctacctaggt acctccccgtcttgtccccg

Exon 17 gcatctccacaggtccat agggtgagctgaggtttg

Exon 18 caaacctcagctcaccctt tctaagtcagaaagggatcgg

Exon 19 gatgacgtgggccctgccctccc cttgggtgggacgttctgcag

Exon 1 gcacacctggaatgttgaa aaaggtggatgggataggag

Exon 2 gggccttgaacagtgtgtct tttcccgaaacacagcagc

AIPL1 Exon 3 agtgagggagcaggattc tgcccatgatgcccgctgtc

Exon 4 ctcctgcccagggaga gggagatgtgccacagg

Exon 5 aaagtccaggaaggctatgg taaggaacctgcagaccaag

Exon 6 ctgggaagggagctgtag aaaagtgacaccacgatcc


Exon 2 gtgcacgtcaccccatggtgagtaac cagaggtcctccaagagatgaggcc

CRX Exon 3 gtagaagggcagggaatgt ctcctcccatcactctttgt

Exon 4_1 gctggatgcaaagtagacag ccatgggagaaaggtaggg

Exon 4_2 tctccgagctcctatttcag gatctaaactgcagggaagc

Exon 3 ggagaggagcagagaagcag gcttccagtgcaggtctttg

Exon 4 tcttagtgtgagctcgtgaagg ttctagtcagagcccccaag

Exon 5 cccagtcccaagctcactta tagtggggtggatgatggtt

RDH12 Exon 6 gggcaattatgcaggtctgt ccctggacattctccacatt

Exon 7 aattggttcacacccagaaga tgacttcccaagttgctgtg

Exon 8 tcctgagtccctccttctca tcatcaggcacaaactcagc

Exon 9 gggaccataaagatttccaga ctttagggttggccttctcc

Exon 1 tgctgagaaattcctgctacaa tctgtgaaggccagcaagat

Exon 2 tgagacatctaaagggttcaaaaa cagtctatcgacatgtttggc

Exon 3 tgtactggggacagaaggcta aaacgtggctggcacatc

Exon 4 cagcccttcatgttccagtt ttccctgatcatgctgaaaa

Exon 5 ccaaggttactgattcacttaatttc cctctgagatggaggaaagg

Exon 6 cgtgatgagaaatgggagaaa cgagttgtgaggcttggatt

RPGRIP1 Exon 7 agtgtgctaagtaacagtacct atttgctccagcaataggc

Exon 8 caaagtcattctttgtgacatctg ggagcttcgtttttgtcattt

Exon 9 ggaaaatcctcattaatcccaat attgagtaccaatttccccata

Exon 10 aggtccaggagatgctgaaa ggatcaagtgaggggattaaa

Exon 11 ttttgttttcggagtgcaag gttttctaatctcatcatcttccc

Exon 12 agtttctgctgctggcattt ggacagccattgtgtgtttg

Exon 13 gggtctgcaaggaaatcaaa atgagaggcacccttcttga

Exon 14 cacaacttggacttccacca ggggaatacagatggtgtgg

Exon 15 agcaccaatgcagaatttcc gatgtagctcgctccaaagg

Exon 16 gctcttcctcaccacagatcc tctgctctgttgctcttgaca

Exon 17 ggtgctgacaaatgctcact cacatgacactcacagaggga

Exon 18 tcccaaatccctttcttgtg tgtctgcttctgcttctgct

Exon 19 aaagaaggcaggaaggaagg cttgaaagcctgatctcgtg

Exon 20 tgaccagacagtggattgga tgcattttccatcagcttca

Exon 21 tgggttaattggatggcgta attcaccccacaaaaatcca

Exon 22 ccatgaataccactaatgaaagtct catcagcacaaaaccaaactc

Exon 23 aaatggaggcaagggaaaag gggataagatttcaatccactttg

Exon 24 cattcatttagcatccccagt ggtactggagaaaaatgcctttag

Exon 1_1 agggcactgtcatgatctcc ggtaaacatgtcccgctgtg

Exon 1_2 tcagtgccatcagaacagact ggctggactggcaacaatg

Exon 1_3 cacagcgggacatgtttacc ggcaggagaattgcttgacc

Exon 1_4 ggaacattgttgccagtcca cgtggcctttgagttcagtt

Exon 1_5 tctgggcatagcatcacaca atgctaacaatgtttgagaggca

Exon 2 tttgtccttgctgaccatgc ggccctagatcaaagcctca

AHI1 Exon 3 tgggtgacacagcaagactc tggtcacatacctgaaagctga

Exon 4 actttgggtccttgtcccat agcaggtccctggtaaatgt

Exon 5 aactgtgcatgaggcaggt agcaaaccttgagacagcct

Exon 6 agagaaatgaagcataatggcct acacatcttgcgctattgct

Exon 7 tttgccctttaatgggatgtga tgacctatcatgtgtcctggt

Exon 8 tggtgcattccagttctttgg tgccatttgtttgggcaagt

Exon 9 aggtgtggtcatctggttca cccatcccagtttacatggc

Exon 10 aattgcggacacgaaagaca gaggagggtcagtggaatgt

Exon 11 tgtgttagcctccattaaacgc aaactccctgggctcttgg

Exon 12 actgccagatgttccttggt cagccctaaactgacgttactc

Exon 13 atgccacagtgcaaatggg acacatgtactgagaggctcat

Exon 14 gcccggccaccatattattc ggttcattggctgtgttggt

Exon 15 gcaccactggattctaccct tgtgctgcaaatgtctttggt

Exon 16 gctatcaactagccacattggac tggcagtgatggctttagagt

Exon 17 ggcctccagaactgtgagaa ggtgaagaagcagaaacaaagga

Exon 18 tcaactcctgctttaaatcaacctt gttcagcgtgaaatctggca

Exon 19 ggcatggctgtttgtgtctt atggaccctccctaactgaatg

Exon 20 cgtctcacttgattccacagc tcatgttacccaggctggtc

Exon 21 tgaggcagtagaatcgcttga ggtttgctgttgtctggctt

Exon 22 gagatcgtgccactgcattc catttacttggcagcagggt

Exon 23 ggcagatgcccttaaatgtc tcttccactcttttggcaat

Exon 24 agcacaatgaaggaaagcca tcatcttgtagcaccgaatgtt

Exon 25 cctgtaggacagcactcaaga acaggctaggcacaccttag

Exon 26 ccttgtccatctgagtcccaa tcactgtgagtgtgctaccc

Exon 27 ggaatgctaaacgcagcaca gctgatagcgtagtgaccga

Exon 28 cgtcggtcactacgctatca tttccctgcgctagctacaa