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 |