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| Protein Name | lamin A |
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| Gene Symbol | LMNA |
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| Intermediate Filament Type | V |
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| HGNC ID | 6636 |
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| OMIM ID | *150330 |
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| NCBI Gene ID | 4000 |
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 INTEGRATED SEQUENCE VIEW |
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Information last updated on 2009-07-21 17:08:58 * variant associated with disease as a risk factor rather than a causal factor. Note: Sequences are numbered according to latest reference sequence information. Discrepancies may exist with some publications. | Chromosome | 1q21.2-q21.3 |
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| Chromosome Strand | + |
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| Chromosome GI | 51511461 |
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| Chromosome RefSeq ID | NC_000001.8 |
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152897534 : AGGAGGACCT ATTAGAGCCT TTGCCCCGGC GTCGGTGACT CAGTGTTCGC : 152897583
-249 : AGGAGGACCT ATTAGAGCCT TTGCCCCGGC GTCGGTGACT CAGTGTTCGC : -200
152897584 : GGGAGCGCCG CACCTACACC AGCCAACCCA GATCCCGAGG TCCGACAGCG : 152897633
-199 : GGGAGCGCCG CACCTACACC AGCCAACCCA GATCCCGAGG TCCGACAGCG : -150
152897634 : CCCGGCCCAG ATCCCCACGC CTGCCAGGAG CAAGCCGAGA GCCAGCCGGC : 152897683
-149 : CCCGGCCCAG ATCCCCACGC CTGCCAGGAG CAAGCCGAGA GCCAGCCGGC : -100
152897684 : CGGCGCACTC CGACTCCGAG CAGTCTCTGT CCTTCGACCC GAGCCCCGCG : 152897733
-99 : CGGCGCACTC CGACTCCGAG CAGTCTCTGT CCTTCGACCC GAGCCCCGCG : -50
VARIANTS : dddd : VARIANTS
152897734 : CCCTTTCCGG GACCCCTGCC CCGCGGGCAG CGCTGCCAAC CTGCCGGCCA : 152897783
-49 : CCCTTTCCGG GACCCCTGCC CCGCGGGCAG CGCTGCCAAC CTGCCGGCCA : 1
VARIANTS : T : VARIANTS
VARIANTS : dddddddddd d T ii d T : VARIANTS
152897784 : TGGAGACCCC GTCCCAGCGG CGCGCCACCC GCAGCGGGGC GCAGGCCAGC : 152897833
2 : TGGAGACCCC GTCCCAGCGG CGCGCCACCC GCAGCGGGGC GCAGGCCAGC : 51
1 : M E T P S Q R R A T R S G A Q A S : 17
VARIANTS : dddddddddd X f f : VARIANTS
VARIANTS : I : VARIANTS
VARIANTS : G T : VARIANTS
VARIANTS : TC T ddd C : VARIANTS
152897834 : TCCACTCCGC TGTCGCCCAC CCGCATCACC CGGCTGCAGG AGAAGGAGGA : 152897883
52 : TCCACTCCGC TGTCGCCCAC CCGCATCACC CGGCTGCAGG AGAAGGAGGA : 101
18 : S T P L S P T R I T R L Q E K E D : 34
VARIANTS : C W d D : VARIANTS
VARIANTS : P D : VARIANTS
VARIANTS : G D : VARIANTS
VARIANTS : G T G A G AC : VARIANTS
152897884 : CCTGCAGGAG CTCAATGATC GCTTGGCGGT CTACATCGAC CGTGTGCGCT : 152897933
102 : CCTGCAGGAG CTCAATGATC GCTTGGCGGT CTACATCGAC CGTGTGCGCT : 151
35 : L Q E L N D R L A V Y I D R V R : 50
VARIANTS : V X S T C S : VARIANTS
VARIANTS : P : VARIANTS
VARIANTS : G : VARIANTS
VARIANTS : T C G G G A : VARIANTS
152897934 : CGCTGGAAAC GGAGAACGCA GGGCTGCGCC TTCGCATCAC CGAGTCTGAA : 152897983
152 : CGCTGGAAAC GGAGAACGCA GGGCTGCGCC TTCGCATCAC CGAGTCTGAA : 201
51 : S L E T E N A G L R L R I T E S E : 67
VARIANTS : V P R G G N : VARIANTS
VARIANTS : S : VARIANTS
VARIANTS : dddddd A : VARIANTS
152897984 : GAGGTGGTCA GCCGCGAGGT GTCCGGCATC AAGGCCGCCT ACGAGGCCGA : 152898033
202 : GAGGTGGTCA GCCGCGAGGT GTCCGGCATC AAGGCCGCCT ACGAGGCCGA : 251
68 : E V V S R E V S G I K A A Y E A E : 84
VARIANTS : dddd K : VARIANTS
VARIANTS : G TT T G : VARIANTS
152898034 : GCTCGGGGAT GCCCGCAAGA CCCTTGACTC AGTAGCCAAG GAGCGCGCCC : 152898083
252 : GCTCGGGGAT GCCCGCAAGA CCCTTGACTC AGTAGCCAAG GAGCGCGCCC : 301
85 : L G D A R K T L D S V A K E R A : 100
VARIANTS : R L F E : VARIANTS
VARIANTS : C : VARIANTS
VARIANTS : C T ddd : VARIANTS
152898084 : GCCTGCAGCT GGAGCTGAGC AAAGTGCGTG AGGAGTTTAA GGAGCTGAAA : 152898133
302 : GCCTGCAGCT GGAGCTGAGC AAAGTGCGTG AGGAGTTTAA GGAGCTGAAA : 351
101 : R L Q L E L S K V R E E F K E L K : 117
VARIANTS : P X d : VARIANTS
152898134 : GCGCGGTGAG TTCGCCCAGG TGGCTGCGTG CCTGGCGGGG AGTGGAGAGG : 152898183
352 : GCGCG : 356
118 : A R : 119
152898184 : GCGGCGGGCC GGCGCCCCTG GCCGGCCGCA GGAAGGGAGT GAGAGGGCCT : 152898233
152898234 : GGAGGCCGAT AACTTTGCCA TAGTCTCCTC CCTCCCCGGA ACTGCCCCCA : 152898283
152898284 : GCGGGTGACT GGCAGTGTCA AGGGGAATTG TCAAGACAGG ACAGAGAGGG : 152898333
152898334 : AAGTGGTGGT CTCTGGGAGA GGGTCGGGGA GGATATAAGG AATGGTGGGG : 152898383
152898384 : GTATCAGGGA CAAGTTGGGG CTGGGGCCGG CCTGAATTCG GTCAGATTGG : 152898433
152898434 : GATTTGCCAA CTATTTGGAG CCGGGGGGAG GGGCTTGAGC AAAACAGAAC : 152898483
152898484 : TAGCCCTGCC AGCTCGAAGA ACTCTGGGCA CCCAGGACAC ATCGGAGTGG : 152898533
152898534 : CAGAAAGGGT CCTGTTAGAA CTTTGTTAGC GGGCTTGGCA CTGTGCTAGC : 152898583
152898584 : TTTGCCCAAG CTGGCTCTGA ACACATGATG CCCACTAAGA CATAACTCTC : 152898633
152898634 : AAGTTGGCAT CTGTCCAGCG TGTTGGAGCG AGGTCAGGAA GGCAGGGCAA : 152898683
152898684 : TCCCCCTTTT CCCTCCCAAG GGCTTGGCGG TGGCCCCCCC TCAGCATGAC : 152898733
152898734 : CTTGTCCTGG GTTCTAAGGG TTGGGAAGTT CTCCCTCACT CTGCCACTCT : 152898783
152898784 : GCGTGTCTGG GACCTTCCTT GGGCTCTGAC AGGCCCACCA AAAGAGCTCC : 152898833
152898834 : GGGAGATGAG AGATCGGCTC CCCCGCAGCT CCCACAGCCC TTGGCCTGCT : 152898883
152898884 : TGGCCCAGGA ATGCAAGGGA GGGAGGGAGG CAGAGGGCAG AGGCTCCCAG : 152898933
152898934 : CTCAGGAAGT TGTGTTATGC CCAGGTCTGG CCGCACTCCT CCCTTGGCCC : 152898983
152898984 : TCTGCCTAGT GTCTTCGAGG GTTGGGGGCA CTGTCCTTCC CTCCTTGGGG : 152899033
152899034 : TGAGCCACTT TCATTTTCCC AGCGGGGCCA GGCAGTCTTT GCTCGGGCCC : 152899083
152899084 : ATCCTCTTAG CTGCTGACGT TTTGATCTTT GTCTTATTGA AGTGCTGGAA : 152899133
152899134 : TACAGTGACA TTTTTGAAAT CCAGCCGTTG GAAGATTCAG GCCACTCCCA : 152899183
152899184 : CTTTACCCAC CCCTGCCCCA CCCTACCCCA CCCTACTCAA CTGCACCTTC : 152899233
152899234 : TTCTTTTCTA AAAAAGCCTT TGGGAGCTTG GAAGTATAGG CCCTCTCTTC : 152899283
152899284 : CAGCCCCATC AAAATTTGTT TCCCTTCTTC CTGCCTTCCC TTTCTCTATG : 152899333
152899334 : CAGACCCAGG CCAAGAGCAC TAAGGGTGCT TGGAGATCCG TAAAGGGCTG : 152899383
152899384 : TTGGCTTTGA CTTCTTCTCT CTCTTTTATC ATCTACTCCA AACTTCTGCT : 152899433
152899434 : CTTCCTAGAA CCCTTTGCTA GGTGTGGTTT TGTTGCCCAG GCTGGAGTGC : 152899483
152899484 : AATGGCACAA TCTCGGCTCA CTGCAACCTC CGCCTCCCAG GTTCAAGTGA : 152899533
152899534 : TTCTCCTGCC TCAGCCTCCC GAATAGCTGA GATTACAGGC ATGTGCCACC : 152899583
152899584 : ATGCCGGGCT AATTTTGTAT TTCTAGTAGA GATGGGGTTT CTCCATGTTC : 152899633
152899634 : GTCAGGCTAG TCTTGAACTC CCAACCTCAG GTGATCCACC CGCCTCAGCC : 152899683
152899684 : TCCCAAAGTG CTAGGATTAC AGGCATGAGC CACCACGCTG GGCCCATCAC : 152899733
152899734 : CCTTCTTTCT GAAGAGTCAA TGGAAGTTGT GTGTAGGAAG ACAGGCTTAA : 152899783
152899784 : CGGTTTTTTT TTGAGACAGG GTCTTACTCT GTCACCCAGA CTGGAGTGAA : 152899833
152899834 : GTGGTGCGAT CTTGGCTCAC CACAACCTCT GCCTCCCAGG CTCAAAAGAT : 152899883
152899884 : TCTCCTGCCT CAGCCTCCTG AGTAGCTGGG ATTATAAGTG TGTGCCACCA : 152899933
152899934 : CACATGGCTA TTTTTTTTTT TTTTTTTTTT TTTAATTTTT AGTAGAGATG : 152899983
152899984 : GGGTTTCACC ATGTTGGCTA GGCTGGTCTC AAACTCCTGA CTTCAAATGA : 152900033
152900034 : TCCACCTGCC TCGGCCTCCC AAAGTGCTGG GATTACAGGT GTGAGCTACC : 152900083
152900084 : ATGCCCGGCC ATCAACCTTT ATTTTGTTTT TTTGAGACGG AGTCTTGCTT : 152900133
152900134 : TGTTGCCCAG GCTGGAGTAC AGTAGTGTGA CCTCAGGTCA CTGCAACCTC : 152900183
152900184 : TGCCTCCCAG GTTCAAGCCA TGCTCCTGCC TCAGCCTCCC AAGTAGCTGG : 152900233
152900234 : GACTATAGGT GCCTGCCACC ACGCCCGGCT ACTTTTTATA TTTTTAGTAG : 152900283
152900284 : AGACGGGGTT TCACCATGTT GGCCAGGGTG ATCTCGAACT CCTGACCTCA : 152900333
152900334 : AGTGATCTGC CTGCCTCAGC CTCCCAAAGT GTTGGGATTA GAGACGGGAG : 152900383
152900384 : CCACTGCGCC TGGCTTCTTT TTTTCTTGAG ATAGGGTTTC ACTCTGTTAC : 152900433
152900434 : CCAGGCTGGA GTGCAGTGGC AAGGTCATGG CTCACTGCAG CCTCTACCTC : 152900483
152900484 : TCTGGCTCAA GCCATCCTCC CGCCTCAGCC TCCTGAGTAG CTGGGACCAC : 152900533
152900534 : AGGCAGGCAC CACCACCCAC AGCTAATGTT TTTGTATTAT TTTGTAGAGA : 152900583
152900584 : TGGGGTTTTG CCATGTTGCC CACAGTCTTG AACTCCTGGG TTCATTCTGC : 152900633
152900634 : TGAAAGAGAC CACACCTGTC CTTTTCTTTA TTTTTATTAT ATTTTTCAGA : 152900683
152900684 : GACAGGGCCT TGCCCTGTTG CTCAGGCTAG AGTGCAATGG TACAATCATA : 152900733
152900734 : ACTTGCTGCA GCCTGGAACT CCTCCTGGGC TCAAGCGATC CTACCGTCTC : 152900783
152900784 : ACCTTCCGGA ATAGCTGAGA CTAAGGGCAG GCACCACCAC GCTTGGCTAA : 152900833
152900834 : TTTTTTTTTT TTTTTTTTTT TTTTTGCTTT TTGTTTGTAA AGATGGAAAC : 152900883
152900884 : TTGCTATGTT GCTCAGCTGG TTCCGAAGTT TTGGCCTCAA GCAATCCTCC : 152900933
152900934 : TGCCTCGGCC TCCGGAAGCA CTGGGATTAC AGGCATAAGC CACCAGGCCT : 152900983
152900984 : GACGCCAGGC CTGTCTTTTT TCTACTAGTG ATATGAACAA TTTAGTTAGC : 152901033
152901034 : AAGACAGATA GGAAGCAAGG AAGGGGAGAC CCAGAGAATT CGTTGCATTC : 152901083
152901084 : TAAACTAGTC CACTCATCTA CCAAAGCCCT GTGAAGGACA TTTTTAGCAG : 152901133
152901134 : TTTTAGCAGT TTTCTGGTCA AAACTTTGAT CGAGAAACAG ATTGAGTGGA : 152901183
152901184 : TTCGATATTC TCTTGCTCAC CCAGCCACGC CAGTTTGTCT CCTCTGCCTC : 152901233
152901234 : CTAGTGCAGC TGTCCAGGCC TGGGACACCA GGCGGGTATG TGCGCATGTG : 152901283
152901284 : GGGCAGGGCG GAGGTGGTGT GTGTACTTGT TATATTTAGC CACCTCCCTC : 152901333
152901334 : TGTTCTCCCC CACTGATCCT GGCTGGAAAG GCTGGGCTTC CGGAAAAGAG : 152901383
152901384 : AGGTGGATTT GCACACCTGG ATCCCAAGCT GATAGAAAGT GGGGTGAAGA : 152901433
152901434 : CAAAGGGGAC TCAGACTGGG GTGTCTGTCC TCTTCTATGC CCACAGTAGG : 152901483
152901484 : AGGAGCCAGG ATTGGTTACT CCCTGCTGGG TCTGCTGTGC TCAGAGTGAG : 152901533
152901534 : GTAGAGAAGT GGGTAGAGTA AAGAATTTGG GAGAGGAAAA AAGGCATTTT : 152901583
152901584 : CCCAACCCCT CCCACCAAAG CCTAGAGAGA AGGTGTTGTC TGGTTTAATG : 152901633
152901634 : TTTAATTAGA GCTCAGAGTT CAGGGCCAGA TTTGGAGTTG GGATGGAAAG : 152901683
152901684 : TTGTTTTTAA GACCCTGTAG CAATTTTTGA CCCAGCCTGG GTACCTCAAC : 152901733
152901734 : CACACTCAGG AGTTTGGGGG ACCTTCTGTT GGGCTGGATT ATAGGCTCCA : 152901783
152901784 : AGAAGAAACC CCTTTCGCCA ATACTCTCTC TCTCTTCTTT TTTTGAGACA : 152901833
152901834 : GGGTCTTGTT CTGTTGCCCA GGCTGGGGTG CAGTGGCATG ATCACAGCTC : 152901883
152901884 : ACTGCAACGT CAGCCTCACA GGCTCTGGTG ATTCTCCCAC CTCAGCCTCC : 152901933
152901934 : TGAGTAGCTG GGATTACAAG TGTGTGCCAC CATGCCCAGC TAATTTTTTT : 152901983
152901984 : TTTCTTTTTT TTTTTTTGAG ACGGAGTCTT GTTCTGTTGC CAGGCTGGAG : 152902033
152902034 : TGCAGTGGTG CGATCTCGGC TCATTGCAAC CTCCACCTCC CAGGTTCAAG : 152902083
152902084 : CGATTCTCCT GCCTCAGCCT CCCGAGTAGC TGGGACTACA GGCACATGCC : 152902133
152902134 : ATCACGCCCA GTTAATTTTT GTATTTTTAG TAGAGTTGGG GTTTCACCAT : 152902183
152902184 : GTTGGCCAGG ATGGTCTTGA TCTCTTGACC TCGTGATCCG TCCACCTTGG : 152902233
152902234 : CCTCCCAAAG TGCTGGGATT ACAGGTGTGA GCCACCGTAC CCGGCCACTA : 152902283
152902284 : ATTTTTATAT ATTTTGTAGA GATGGGGTTT CACCGTGTTG CCCAAGCTGG : 152902333
152902334 : TCTCGAACTC CTAGGCTCAA GTAATCCACC TGCCTTGGCC TTGGCCTCCC : 152902383
152902384 : AAAGTGCTGG GATGTATAGG CATGAGCTAC CGCACCTGGT ACCCCCTGCC : 152902433
152902434 : CCTTCTCTGT CTCTTTCTAG TCTGTAGCCC AAGGGATTTG GATACCCAAG : 152902483
152902484 : TGCAGGCAGA ATGGGAAGGT TGTAAGCACC AGGGAAGCCT GTCTGGAGTC : 152902533
152902534 : CAGGCTTGCA GCTGGGCCCC ACCCCAGGCA AGGCAGCTGG GTGGATGACT : 152902583
152902584 : CAGATGCTGC CCCCCTCCCT CCCACCCTGG TGGCTTTACA GAAGACAGCA : 152902633
152902634 : GGAGACAGGG TGGAGACAGC AGTTGTCTTA AAGGGAGGAG TGGTGGTCTG : 152902683
152902684 : AATGTCTACC TCTTCTGCCC CCCTCCCCAT TGCATCCTGG AGTCCCTTGC : 152902733
152902734 : CTGGCTCCTT CCTGAGACCC TCTGGTGGTG TCTGGACACA TAGCTCTCTC : 152902783
152902784 : TGGACAGGTA ACATGCACAA GTAATTAGAA TCCAGAGTTG AGTTCAGAGT : 152902833
152902834 : TATGGATTGG GCTGCAGGAT AGTGCCAGGG TCTGTGCCTT CCCATGTGAA : 152902883
152902884 : ACTGATGGAG GAAGGCTGAG TCAGAAGTGG GGAGATCCGA GGCCCACAAA : 152902933
152902934 : GCAGAAGCGC TACTTCCACT CCAAAAAGGC CCTGGTGCTT GACAACTTCC : 152902983
152902984 : TGGATTGCCC ACTGTTGCAG CCCCAGTGTG GACAGGCAGG GAGATGCAGG : 152903033
152903034 : CTCCAGTTCA TGTAGGCTCT GATCAAGACA AGAACAGCAA AGGCCACAGA : 152903083
152903084 : GGCACAGATG CTTGTCCCAT GTCACACAAT AAAGGGGTCA GCACTTGATC : 152903133
152903134 : ACAGGCCTTA TGACTTCCAG CTGGGTGTGC TCTTACCATT AAGCCTCACT : 152903183
152903184 : TCTCTAGCTT GGGGGACAGG TTGGAGGGAG GATCTAGAGG GTGAGGTAAG : 152903233
152903234 : GTGAAGTCAG GTAGCTGAGG CTCACTTCTG CAGCCTGGAA ACTCTGCTCT : 152903283
152903284 : GGGGCCAGTG ACACCTTAGT GCTCTATGGC CATACTTCGT GGCTCATGCC : 152903333
152903334 : TGTAATCCCA GTGCTTTGGG AGGCTAAGGC AGGAGGATCA CTTGAGGCCA : 152903383
152903384 : GGAGTTTGAG ACCAGTCTGG GCAACATAGC AAGACCCCCT TCTGTACAAA : 152903433
152903434 : AAAATTAGCC GGTCAACACC TGTAGTCCAG CTGCTTGGGA AGCTGAGGCG : 152903483
152903484 : GGAGGATCAC CTGAAGCCAG GAGTTTGAGG CTATTGTGAG CTATGACTGC : 152903533
152903534 : ACTACTGCAC TCTAGCCTGG GAGAGAGAAA GACCCTGTCT CTGAAAAAGA : 152903583
152903584 : AAAAAACAAA ACAAAACTCT GCTGTCCTGC AGGGCCTGTT AGCATATGAT : 152903633
152903634 : CGATAGCCTT TGCTCCAGCC TATACCTGGA CCCAGGACCC CTGCCAGCCC : 152903683
152903684 : CTCAATCGTG AGACGGTCAG AGCTCTGGGA GGCTGGTGAT TCTTGTCTTG : 152903733
152903734 : AGACTATCTT GAGACTTGTC ATGGGAATTG TCCACCCGGA TTGAAAGGAA : 152903783
152903784 : GCTGTGCCTT TTGGCAGACC CATTAGGTTA ATGGGGTTGG AGACCTTTGA : 152903833
152903834 : GGATGCATGG GCCCTGGGCT TTATCTGAGG GTATCTCCTG GTGTTACCTC : 152903883
152903884 : TCCAACCCTC CACCACCAAA TCCATTCTTT TTTTTTTTTT TTTTTTTTTT : 152903933
152903934 : TTGACAGTCT CGCTCCCTGG CCCAGGCTGG AGTGCAGTGG CATGATCTTG : 152903983
152903984 : GCTTACTGCA ATCTCCACCT CCCAGGCTCA AGTGATCCTC CCACCTCAGC : 152904033
152904034 : CTCCCAAGAA GCTGGGACTA TAGGCACGTG CCACATGCTC GGCTAATTTT : 152904083
152904084 : TCTATTTTTA GTAGAGACCA GGTTTCACCA TGTTACTCAG GCTGGTCTTG : 152904133
152904134 : AACTCTGGGG CTTAAGCAGT CCACCCACCT TGACCTCCCA AAGTGCTGAG : 152904183
152904184 : AGCCACTGAG CCTAGCCCAA ATCCACGTTC TGATTCAAAG GGAAAGAAGA : 152904233
152904234 : AGGGTGCAGC TAAACCTGGG GGGTGAGAAG TACTTAAAAA GCCCAAGAGA : 152904283
152904284 : AACAAAAGAG AGAATAATTC CTCACTAGGA CCCCCTATTG CCTTCCCACT : 152904333
152904334 : ATTGGTGCCC TTGCTTGGCA CTTCCCCTGG CCTCCAGGAG TCTGAGACTT : 152904383
152904384 : ACTCTTCCAT GGATGTGCCC ATTGCCCCCA CTTCCAGGTC CACCCCCCAG : 152904433
152904434 : TGATTCGGTA GCTTAGTGTC TGCGCTGAAG CCCAGGACAG CTGGATGGAC : 152904483
152904484 : AACTGGTAGA TCCCTTCACC TACCAACTGT GCTTTCTGCT CCCCTCCCCC : 152904533
152904534 : TTGCTTCCCT CCTCCCCAGC CCCTCGCCAC CCCTAGCAGC TGCAGCAGCC : 152904583
152904584 : AAGACCAAGT CTTCAGAGAC CCAGACACAA GGGCAGGGTT CATTCCATTC : 152904633
152904634 : TCACCTCCTT GGGGTCCCAG TGTACTGATA GGCCGAACTC TAATATTATA : 152904683
152904684 : GGAGATCTCT GGAAGATTGC AGGGTCTCTT ATCCCTCAAT AAGGGGCAAG : 152904733
152904734 : GCAAGCCGGG CGCAGTGGCT CACGCCTGTA ATCCCAGCAC TTTGAGAAGC : 152904783
152904784 : CGAGGGGAAC AGATCACTTC AGGTCAGGAG TTAAGAGACC AGCCTGGCCA : 152904833
152904834 : ACATGGTGAA ACCCTGTCTC TACTAAAAAT ACAAAAATTA ACCAGAAATC : 152904883
152904884 : GCTTGAACCC AGGAGGCAGA TGTTGCAGTG AGCCGAGATC ACGCCACTGC : 152904933
152904934 : ACTCCAGCCA GGGCGACAGA GCAAGATTCC GTCTCAAAAA AATAATACTA : 152904983
152904984 : ATAATAAATA AATAAATAAG GGGCAAGGTA GTCCACCAAC AAAATGACAG : 152905033
152905034 : GCAGTGTGAT ATAGTGGACA CCCTAGCCCT CGGTGCCCTT AGTTCTGTGT : 152905083
152905084 : GTGGCCCTTT CACTAAATTG CTGTGTGACC TTGAGCAAAT CGCCTCCCCT : 152905133
152905134 : TTCTGGCTTT CCTTAGCTGT AAAAGAAAGG GATTGGAGCG GAAAGTCTCC : 152905183
152905184 : AGAGACCTTT TAGGTTCCAA AGTAGTACAG TGACCCACAA AGTGAGAAAA : 152905233
152905234 : CAGTCTTCTA AAATACCAAG TTATTAATAG TAAAATCAAA TATAAATAAT : 152905283
152905284 : GTGAATATAG TTAATAGCTA ATGTTGTTCT CAATAGAAAT GTTTCCCACA : 152905333
152905334 : AGCTGTGGAA TTAAACATAC TACCACATTT CTCTATTTCC CCGTGAAAGT : 152905383
152905384 : TTGTTAGAAA TGGTTAAATT GTGACATTAC CCTCTTGGCA AATGTTTTGT : 152905433
152905434 : TTTCATTGCT ACTAGGAAAG GGCAACTCGT TTTCGATGCC TCTCCCTTCT : 152905483
152905484 : GGACGGTGGA AAGGGCTGTG TCATAGAGTA GGAACGGGAG ATGCGGCACA : 152905533
152905534 : GGAATGGCTC CCATTGACCC GGGTTGGGGG CTAGGGCGAA GGCCTAGGAG : 152905583
152905584 : AGGCAGAACT GTTACCTTAG AGCTGGCCAG GATTAGAGAA CAGTGCCTGG : 152905633
152905634 : AACCGGGGGG AGGGGCACGG TGACCTTGGG CTGCCCACCT TCTACCCTTC : 152905683
152905684 : CAGCACCCAT ACTGGCTCCC CCAACCTGCG GCTGGGCTGG GAGGAGGTCT : 152905733
152905734 : TGGCCCCTAC CAATCCCTTA AGGAAGGGGA AAGAGTTTGG GAAGGGGAGT : 152905783
152905784 : CCTCCCTTCA CCCCTGCCTC CCCCAAGTTG TGAGAGAGGA AGCCGGAATC : 152905833
152905834 : CTGCCTGCTG AAGCCAGGAA TAATTCTGGC TGAGATCCCA GGCCCGGCAG : 152905883
152905884 : GGGCGCTGAG TCATGGTAGA GGGCAGAGTG GAGAGTGGAC AGGAGACCCT : 152905933
152905934 : AAGCTTGTCC AGTCAGAAAA GCAGAGGCTG AGGGGTGGCC TTTTCTTGAG : 152905983
152905984 : AACTACATTC AAGTTGCAGC AAGAAGGACA GTGGTCTGAA TTTGACGGGG : 152906033
152906034 : ACAAATGGAA GGGAGATAGG ACACATGAGT TCCTTTAGGT CTGGCTCAGG : 152906083
152906084 : GGAGCTAGAC TTCATTTCAA GGGGTCTAGG TTCTGGGCAG TTGAGAAGGA : 152906133
152906134 : GGCTATTTGG GGTCACCAAG GCTCCCCTTT CTTCCCAAAG CTCTAACACT : 152906183
152906184 : GCCACCTTCT GCTGGCTAGG AGAGAGCTGT GTCTTCTGAG GCTAGAGCTG : 152906233
152906234 : GAATGCAGTG AGACCAGACT GCCTAGGTCC TCCCTCACTT CTTCTCCTGA : 152906283
152906284 : CCTTGGGGTG TGGCTCCCAC TCTCTCCCAG TGTCCTCAGG GTTAATAACT : 152906333
152906334 : ATGTGCCACC AGATAGAGAG TTAAGGGGCT GCTGAATTGG CTTCTTGTGA : 152906383
152906384 : AGGGAATCCC CTAAATGTCC CTCGTTTTGG TCACTGGCCT CCCTCCCGCC : 152906433
152906434 : CCCTTCAGGA CATTCTACTA TCTTCTTAGG CCATCCCTCC CTCCTCCAGG : 152906483
152906484 : CACTACTTCT TTTGCTCTAT CCCCAAGCCC CACCCCTGCA TTTTTGTGAC : 152906533
152906534 : AACACCGGAA TGATTTCTAG AGAGAGAGGC CAGGAAGAAG GAAAGTGGCA : 152906583
152906584 : CTTGGCAGGA GACCTTGCAG GGGGCGGCTG GTGAGGAAGC CAGCCGCCCA : 152906633
152906634 : TTGTCCAGGA CCCCAGTGCC CTGGCCTCCG GCCTCAGGCT TCTCCTGCCT : 152906683
152906684 : CTGTACAATG CCACGTTGAT ACGCCCAGCA GCTGTGACTC AGGCCTGGCC : 152906733
152906734 : CCCTGCCAGG CCCAGCACTT CTACTGGAGT TGCGTCTGAA CATGTCAACA : 152906783
152906784 : GGCTTCCTAT CCCTCTCTCA GCACCAGTTC TCCCCACTTC AGCCCCTCCC : 152906833
152906834 : TCTGCCTGGA ATTAAAACCT GGCTTTGTCT TAGGGAAGGA CAGCTGGGAG : 152906883
152906884 : CCTAGTGGCT CTGGTAGGGG ATCTGAGAGG CCTCAGACCC TAGGCATATT : 152906933
152906934 : TGGCTGTTTG GCAGGTGTCA CGCCCAAGGG AAGCGTGTGG AAGCAGAGCC : 152906983
152906984 : ATGCCTGCTG TGGGTGCACA TGCCCGCGTG AGGGAGTCGG GGTGTTTCAT : 152907033
152907034 : CCTGGGGCAC CTGTGGGCTT TTGAGGTGTA TGATATTCAG AACTTCACAG : 152907083
152907084 : GTTGGGGTTT GGGGAAGGCT CAAGGGGCTT CTAAGTCCCT GGAACAGCTG : 152907133
152907134 : CCCCCCTCAG TTCCTCTCTC TCTCTCTCTT TTTTTTTGAG ATGGAGTCTC : 152907183
152907184 : GCTCTGTTGC CCAGGCTAGA ATGCAGTGGC GCGATCTTGG CTCACTGCAA : 152907233
152907234 : ACTCCGCCTC CTGGGTTCAA GTGATTCTCC TGCCTCAGCC TCCCAAGTAG : 152907283
152907284 : CTGGGACTAT AGGTGCCCGC CACCATGCCT GGCTAATTTT TGTATTTTTA : 152907333
152907334 : GTAGAAATGG GGTTTCACCA TGCTGGCCAG GATGGTCTCA AACTCCTGAC : 152907383
152907384 : CTCGTGATCC ACCCACCTTG GCCTCCCAAA GTGCTGGGAT TACAGGCGTG : 152907433
152907434 : AGCCACTGCG CCCAGCCTCA GTTCCTCTCT TTAAGGTCTC CTTTCCAGAG : 152907483
152907484 : AGGGATAGCA CCTCAAATGC CAGGGAGGGG AATTCTCCAC ATCCTGCCCT : 152907533
152907534 : TACCCGAGTT GTGGCAGACC CACAGACTAG CCAAGAAACC AAGCAGTGGT : 152907583
152907584 : TACTTTGCCG GGTTGGGGGG GAGGTAGGGG CTATCAAACC TCATGATTGG : 152907633
152907634 : CCGCACACAA AGGTGTGAGT ATGTGTATAT TTGAGGGTGG GTGGGAGTGG : 152907683
152907684 : CACTTTCACT AGGCCTCCGT ATCACTCTCT GACTGGGGTA TCTCCCAGCA : 152907733
152907734 : AGCGAGACAG AGGCAGACAC GCTTCCCAGA CTGTCTTACT GGGTCTCTCT : 152907783
152907784 : GTGTTATTCT CTGCAGTGTC TGTGTGTATC GTGCCATTTT CTATGTTTTG : 152907833
152907834 : CACCAATCTG CTGTGAGTGT CCTCAGGTGA CCTGGGGGCA GGTTTTTAGT : 152907883
152907884 : GCCTGAGCCT ACCCGTCTCC AGGCTTTAGT TTCCCCCTGT AAAAGTATAG : 152907933
152907934 : GAGTTGGTTC AAGAGAAGGT TCCTCTAGAA GCCTTGAGCC TGTGAACCGT : 152907983
152907984 : CTAGTCTCCG GGTATTTGTG GGACACACAG AAAAAGCCCC ACGACCCAAC : 152908033
152908034 : AGGTAGAACA CTGGCTGAAA TCAGCAGGGC AGAGCTGAGA CAGGCTCAAG : 152908083
152908084 : TAGGCTGAGG GGTAGGGAGG TTTTGGGTGA ATGGGAGGGA GGGACAGAGA : 152908133
152908134 : GAAGGAGGAT ATATTGCAGT AGGAGGAGTT GCTGGAACAA AAGGAGGGGT : 152908183
152908184 : GGTAGGAGTG GCTTGGGGTG GCAGCAGAAG ACGCCCTGTC ACATGGCGGG : 152908233
152908234 : AAGTCAGCCT GGGCAGAGGT CTAGGTGTCC AGGAGGGGCT GGGTGTGGTG : 152908283
152908284 : GCTCACGCCT GTAATCCCAG GACTTTGGGA GGCTGATGCA GGAGGATCAC : 152908333
152908334 : GTGAGGTCAG GAGTTCAAGA CCAGCCTGGC CAACATGGCG AAACCCTATC : 152908383
152908384 : TCTACTAAAA ATGCCAAAAA TTAGCTGGGT GTGGTGGCAG GCGCCTGTAA : 152908433
152908434 : TCCCAGCTAC TCTGGAGGCT GAGGCACAAG AATTGCTTGA ACCTGGGAGG : 152908483
152908484 : TGGAGGTTGC AGGGAGCCGA GATCGCGCCA CTCTACTCTA GCCTGGGCAA : 152908533
152908534 : CACAGTGAGA CTCTGTCTCA AAAATAATAA TAATAGGGGC TGGGCGCGGT : 152908583
152908584 : GGCTCATGAC TGTAATCCCA GCATTTTGGG AGGTGGAGGC GGGTGGATCA : 152908633
152908634 : CCTGAGGTCA GGAGTCCGAG ACCAGCCTGG CCAACATGGC AAAACTCCGT : 152908683
152908684 : CTCTACTAAA AATAGAAAAA TTAGCTAGGC ATGGTGGTGC AGGCCTGTAA : 152908733
152908734 : TCCAGCTACT CGGGAGGCTG AGAAGCAGGA GAATCACTTG AACCTGGGAG : 152908783
152908784 : GTGAAGGTTG CAGTGAGATC ACCTGGGCGA CAGAATGAGA CTCCACCTCA : 152908833
152908834 : AAATAATAAT AATAGTAATA ATAATAAATG AAAAATTTTA AAATTAAACA : 152908883
152908884 : ATTAAAAATT TTAAATTAAA ATTAAACAAA TTAGATGCCC AGGAGGATAC : 152908933
152908934 : AGGAGAGCAT TTGCCACCAG GCGGACTCCC TGTACCCACC CGGCCACAGG : 152908983
152908984 : GGGCGATGTT CCTGGGAGAC AGGAAATGCC CAGGGGCTGG GAGACCCTCT : 152909033
152909034 : GCTCTTCTGC TCCCTTCCTG TGTGCTGCCT GGCAATGGGG AACTCTGAGG : 152909083
152909084 : GCTGGTGAGC AGGGCTGCTG AGGAGTGGGT CTAAGGAGTC CCTGCAGGGC : 152909133
152909134 : TGGGCCAGCT CCTCCACCTC CCCTTTGTCT TCCCCTCCCA CTTGTTATTT : 152909183
152909184 : TTAGCTACAG TGTCTGTCCC TCTTGCTTCT CCCCCAGATT GGGAGAGGAA : 152909233
152909234 : ACGGAGGCCT CTCCCTCCGG GCCTAGCCTG TTGCCCCCAG CAACCGGGCC : 152909283
152909284 : CAAACAGGCC TGTGGCCGGC CCTGGCTTCC ATATCTGGCA TCAGAGTTGG : 152909333
152909334 : GCTGAGCAGG GTGACTCAGA GGGTGGGTCA GCGCCTGGCC CGGTGCCCAC : 152909383
152909384 : CTAGCCCCTT TGCTGTGCTG GTGCCTTTCT TCCCCAAACA GCCCCAAGGG : 152909433
152909434 : CCCGGGCCTG CTGCAGCTGG GGAGCCGGAC TTCCTTGTCC CACCAGGCAC : 152909483
152909484 : AGCTCTTCAG ACCCCTGCCT TGGGTCACAT TTGCAAGTGC CAACTCTCAT : 152909533
152909534 : TTCTACCTTA TTCTTTTCCT CTCTGTTCCC CTCCCCACCC CCTCTCTTCC : 152909583
152909584 : CTCTTTCTGA GATCAGATTT GCCAGTGATG GGAAGAGTTA GAAACAGGAT : 152909633
152909634 : GCCCAGCCCT TCTCGCCTCA AGAGGCCACT GGGATGCAGC CACTCCTGTG : 152909683
152909684 : CTTGGGGAAC CTGGAGGATG CAAGGGAAAG GACTGGCACT CTGCTGGCAC : 152909733
152909734 : AGCACCCGGC CTGGGGCAGG ACACGGGCGA AGCCAGGGTC TCCCCTGTGA : 152909783
152909784 : GCACTAGAGG ATTTCCCGAC CCCTGCCCGG GTATTGTGTG CCTGAGCATG : 152909833
152909834 : AGTCACCTGA GGGGCCCAGG TTCCCACCCT TCCCAGCTCC TCTGGCCTGC : 152909883
152909884 : CCCACCCTGT CCTCCCTGCC AACCCAGCAC GGGGACGGCA CTCAGCGTGT : 152909933
152909934 : GCTCAGCTTT CCTGATGCCA ACCCCCAGTG GAGTGGGCTG CACCACCACC : 152909983
152909984 : CTGGGACCGA ATGCCTGGCT AGGGTCTACT TTGGTCCCTG CTAGGTCTGA : 152910033
152910034 : GGACCCCTCC TAGGAAGGAA ATGGCACTTG GGGGCGGGGG CAGGGAGGAG : 152910083
152910084 : GGAGGAGAGA CACTGGGCTC TACTGTACCC CTAGTCATCT CTTGGGGTGT : 152910133
152910134 : GCGTGTGGCT CCCTGGCCAC AGAGCTCCCA AGGTCTGAGT CATGAGCCCA : 152910183
152910184 : TGGGTGATAG TGGCTTCTTC CCCGCAGATG GGAGCTCCCC GTGCCTAAGA : 152910233
152910234 : AAACCACAAA GGTTCTTCCT CACTTCCCTC TCTGCTCGTG GTTTTTCTCA : 152910283
152910284 : TCTGCAGGGT GTGTCTTAGT CCTTTAATCT CCTCTCTTTG CAGTGCTAGT : 152910333
152910334 : CAAAACCTCC ACCAGGGAAA GACAAATAAC CCCCTTACTG TTTTTTTTTT : 152910383
152910384 : TTTTTTTTTT TTTTTTTGAG ATGGAGTCTC GCTCTGTCAC CCATGCTGTA : 152910433
152910434 : GTGCAGTGGC ACAATCTCGG CTCACTGCAA CCTCCGCCTC CCAAGTTCAA : 152910483
152910484 : GTGATCCTCC TACCTCAGCC TCCTCAGTAG CTGGGACTAC AGGTGCACAC : 152910533
152910534 : CACCGTACCC AGCTAAATTT TTTTTTTTTT TTTTTGAGAT AGAGTCTCAC : 152910583
152910584 : TCTGTCACCC AGGCTGGAGT ACAGTGGTAC AATCTCAACT CACTACAATC : 152910633
152910634 : TCCGCCTCCC AGGCTCAAGC AATTCTCGTG TCTCAGCCTC CCAAGTTGCT : 152910683
152910684 : GGGACTATGG ACGTGCACCA CCTTGCCCGA CTAATTTTTG TATTTTTGAT : 152910733
152910734 : AGAGTCAGAG TTTCACCATG TTGGCAGGCT GGTCTCGAAC TCCTGGCCTC : 152910783
152910784 : AAGTGATCCA CCTGCCTTGG CCTCCCAAAG TGCTGGGATT ACAGGTGTGA : 152910833
152910834 : GCCACCACAC TCAGCCAGCC CCCTTACTTT CCTTGGAGAC CATATACTGT : 152910883
152910884 : GGCTTGTGCC AAAGTGGTAC AGCATGGATT TCCAGCTCCC CTATCTACTT : 152910933
152910934 : GCTGCGGGAC CCTAGATATA GCTTTCTGTG CCTATTTCCT CAATTGCATA : 152910983
152910984 : GGAATAGCAC CTATCGCATA GGGTAGCTGT GAAGATGACG TGAGTTAACA : 152911033
152911034 : TAATATTTAG AGCAGTGCTT GGTACCTAAT AAGCTCTATA TAAGTGTTTG : 152911083
152911084 : CTATTATATT ATTATTATCA CTGCCACCAC CGCTTTTGCA AGCAGCAGAA : 152911133
152911134 : GGTGAAGAGG TTAGACTGAA GAAAAAACTT CTGTGCTCAT CAGCCCATAA : 152911183
152911184 : GCTCGCAGAG CACAGGGATC ATGCATCTAT GTTTTCCTCA GTCAGTGTCT : 152911233
152911234 : GCCAGGCACT GGCAAGGAAA GGCTGTTACC AGGGGGAACT CCAGGAATTC : 152911283
152911284 : CTCCTGGCAC CTAAGGAGGC TGGGGAGACA GGACTAGGGA AAAGGTGCCC : 152911333
152911334 : TTGAGACACC TTCTGAAATC ATCCCATTGC CTTCCAGCTT CTTTCAGCTC : 152911383
152911384 : AGGCTGGCTG GTCAGGGAAA CGCTTTGTGC CATAGTGTCT GCCCTCTTCC : 152911433
152911434 : TCCTCCTGGC TTCTCCATTC TCTCTGGAAC TTGTGGCTTA GGAAAGCAGT : 152911483
152911484 : GAGGTGGAGG AGGAGGAACC CTAGATCAGC AGCTAGAATT GACTGGAATG : 152911533
152911534 : CTGCTGCTGG CTTTCGGTAA TTGACACTGG GCCATTCACC TTCCTCCTTT : 152911583
152911584 : GCACCTCAGT TTCCTCATCT ATAAAAGGGA GAGGGTTGAG CTGAATCAAC : 152911633
152911634 : TCTAAGCTCC TTCTAGTTCT CTAAATTCTG AGAGCCTCCT AGTACAGCCA : 152911683
152911684 : GCAGCAGCCA TTAGCCTTCA GGGTAGAGAG GCCTCTTCTG GGAAGCCCCA : 152911733
152911734 : GCCAGCCTGG GGGTCAGCCC AAGGAGCTCG GAATCTAAGT TGCCCCAGTT : 152911783
152911784 : GCTTCACTTT ACCAGCGGTT TTTCTTCATT TTCCCTCCTC CCCCTGCAGC : 152911833
152911834 : TGCTTCAGCT TCGGAAAAGT TCTGAAGTCA TGGAAAGTTG GGGCTGTGCT : 152911883
152911884 : CCCAGCCAGG GGCTAGGCCG GATGGCAGCC AAAACCTGAG CTGGGTTTTG : 152911933
152911934 : ACTTTATTTT TAGCTTTTCT GACTGAGACA GAGGAGGGAA TACATTCTCC : 152911983
152911984 : GGTTCTGGAA GGGGCTCTTT TTTGCAGGAG ACAGACACTT ACATTAAACA : 152912033
152912034 : ACTTGTTCTG AGGTGTGGCC AGAGGCCTGG ACTGAGCAAG TGTGCAGGCT : 152912083
152912084 : GGGGGAGCTT CCTCTGGCTT CTCATGTCCT TCCCCTGCCC CTCTGAGTGT : 152912133
152912134 : CACTCTATCC TCCTCCCTGC CTGGTGGGGG GAGGTGGGGG TGACTCCTTT : 152912183
152912184 : TTTGGACTCT CCTAAGCAGA ACACTGCCTG GGTCTCGTCC TCCAGAGCTT : 152912233
152912234 : CTGCAAATCT AGCCTTCCCT ATCCCTCTTC ACAGTGAATT GCTGGGCCTC : 152912283
152912284 : TTGGAGTTTA GGACTTTTGT GGTAGAAGAA AAATGTTGGC AGGGCTGCTT : 152912333
152912334 : TTCTCCTTTC CAGGATAGAT TTTTCCTTCT GCCCACGCTT GGTTTTCCTT : 152912383
152912384 : TTTTCCATCT GCTGTGGTGG GCTCATGCTT AAGCACTGAT GAGTTACAGA : 152912433
152912434 : TGGCAGCTGG AACCAGGTCC TCTGGATCTT TCCCTCCGCT CCCTGGGTCT : 152912483
152912484 : GCTGCTTTCT CTCACCCTAT ATTTGTGAAG CAATTGTAAC ATCTAGAAAG : 152912533
152912534 : TTCTTGGGTT CTCTGGAGGT TTTTAAGAAA ATAGGACCTT TCTATTTCTC : 152912583
152912584 : CAGTCCACTA GCAAAAATAA TCAGGGGCCC AGAAAAGGTG AGGGAGGTGG : 152912633
152912634 : CAGAGGCAGC GCTGTTCGAC TGGTTATAGC TAAAGCTTTA CCCACTTTGA : 152912683
152912684 : GGAGCAGGGA GGCTTAAAGC TGGGGCCCAG ATGGACCTGG AGGCCTGGGA : 152912733
152912734 : TCCACATCTG GAACCAGATG CTGAGGCTAT GGTAGATGGG TAGGGCTCAG : 152912783
152912784 : CCTTCTCCCA GGGCACGGAT GAGGCAGGAG GGAGGGAGGC AGGGACCCCT : 152912833
152912834 : CTGTTCAGTG CAGATCAGGG CACCCAGACT GGGTCCTGAG AAAGGAAAGG : 152912883
152912884 : GTCAATATTG TGCCTGGTCA TCCTTGTCTG AGGTCCCTCT GAGCTCTAAC : 152912933
152912934 : CAGACTTTCC TTCCCCACAG TCCCACATGT GTAAAAGGGA CTAGGAGAGG : 152912983
152912984 : TGACCAGTAC CTTTGGGGCT CAGATCGAGA AGTGCTAGGG ACATGTGGGC : 152913033
152913034 : CATGAGCTTA GTTGTCAGGC TCCTCAGAGG GAGGGAAGCT TGGCCAAAGG : 152913083
152913084 : GAAGTGAGTA GAGTCCAGGG AGAAGGCTAA GTAAGGCCCT GTGTGGGAAG : 152913133
152913134 : GGGCAGGAGA CAAAGGTACC CCTGTCTCTT TGGGAAAGAA TGGGAGGAGA : 152913183
152913184 : GAGAGGGAAA AGCATTCATA TCACGGGGTA GAGCTCTGCC CTTGGCCCCA : 152913233
152913234 : GGCACGTTCC TGAGCCCTGA GTCATGGGAA GGGTGGAGAA GCAGGAAGGG : 152913283
152913284 : GGTTTTCAAG GACCTTGGGG AGGTGGGAGC CCAGCCCCAG AGGCAAGCAG : 152913333
152913334 : ATGCAAACCA ACCTAATGCA AGGATGCCCT CTCCTGGTAA TTGCAGGCAT : 152913383
152913384 : AGCAGCGCCA GCCCCCATGG CTGACCTCCT GGGAGCCTGG CACTGTCTAG : 152913433
VARIANTS : TT : VARIANTS
152913434 : GCACACAGAC TCCTTCTCTT AAATCTACTC TCCCCTCTCT TCTTTAGCAA : 152913483
357 : CAA : 359
120 : N : 120
VARIANTS : A T : VARIANTS
VARIANTS : A C C : VARIANTS
152913484 : TACCAAGAAG GAGGGTGACC TGATAGCTGC TCAGGCTCGG CTGAAGGACC : 152913533
360 : TACCAAGAAG GAGGGTGACC TGATAGCTGC TCAGGCTCGG CTGAAGGACC : 409
121 : T K K E G D L I A A Q A R L K D : 136
VARIANTS : S P P : VARIANTS
VARIANTS : S L : VARIANTS
VARIANTS : C : VARIANTS
VARIANTS : G iiCT A C : VARIANTS
152913534 : TGGAGGCTCT GCTGAACTCC AAGGAGGCCG CACTGAGCAC TGCTCTCAGT : 152913583
410 : TGGAGGCTCT GCTGAACTCC AAGGAGGCCG CACTGAGCAC TGCTCTCAGT : 459
137 : L E A L L N S K E A A L S T A L S : 153
VARIANTS : R iiii F K P : VARIANTS
VARIANTS : P P : VARIANTS
VARIANTS : A C C d : VARIANTS
152913584 : GAGAAGCGCA CGCTGGAGGG CGAGCTGCAT GATCTGCGGG GCCAGGTGGC : 152913633
460 : GAGAAGCGCA CGCTGGAGGG CGAGCTGCAT GATCTGCGGG GCCAGGTGGC : 509
154 : E K R T L E G E L H D L R G Q V A : 170
VARIANTS : C K P P f : VARIANTS
VARIANTS : A : VARIANTS
152913634 : CAAGGTGAGG CCACCCTGCA GGGCCCACCC ATGGCCCCAC CTAACACATG : 152913683
510 : CAAG : 513
171 : K : 171
152913684 : TACACTCACT CTTCTACCTA GGCCCTCCCC CATGTGGTGC CTGGTCTGAC : 152913733
152913734 : CTGTCACCTG ATTTCAGAGC CATTCACCTG TCCTAGAGTC ATTTTACCCA : 152913783
152913784 : CTGAGGTCAC ATCTTATCCT AATTTGGCTG CCAATGGGAT CTACCACAGT : 152913833
152913834 : GAATTTAAAA TAATCCAGGA GGCCGGGCAT GGTGGTTCAC GCCTGTAATC : 152913883
152913884 : CCAGCACTTT AGGAGGCCGA GGTGGGCCGA TCACGAGGTC AGGAGATCGA : 152913933
152913934 : GATCATCCTG ACTAACATGG TGAAACCCCG TCTCTACTAA AAATACAAAA : 152913983
152913984 : AATTAGCCTG GCATGGTGGC GGGCGCCTGT AGTCCCAACT ACTCGGGAGG : 152914033
152914034 : CTGAGGCAGG AGAATGGCGT GAGCCTGCGA GGCAGAGCTT GCAGTGAGCT : 152914083
152914084 : GAGATCATGC CACTGCACTC CAGCCTGGGC AACAGAGTGA GACTCCGTCT : 152914133
152914134 : CAAAAAAATA ATAATAATAA TAATAAAAAT AATCCAGGCC ATGTGTGGTG : 152914183
152914184 : GCTCATGCCT GTAATCCCAG CATTTTGGGA GGCCAAGGAG GCAGGATTGC : 152914233
152914234 : TTGAGTCCAG GAGTTTGAGA CCAGCCTGGG CAACACAGAC CCCATCTCTA : 152914283
152914284 : GAAAATAAAA ATTTAAAGAA ATTAGCTGGG CATGGTGGTG TGCACCTATA : 152914333
152914334 : GTCCCAGCTA CTTGGGAGGC TGAGGCAGGA GGATGGCTTG AACCTGAGAG : 152914383
152914384 : GTCGAGGATA CAGTGAGCTG TGATTGCACC ACTGCACTTC AGCCTGGGTG : 152914433
152914434 : ACAGAGGGAA ACCCTGTCTC TACATAAATA AATACATAAA ATAAAATAAT : 152914483
152914484 : CCACAAGCCA TTTCTACTTA ACTTTGCAAT GAACTGTACC TGACCCTAGA : 152914533
152914534 : TCCCTCCCAG TTTGGCCCTC CGGTATACAA GGGCCTCCTA TAGGCCCTTG : 152914583
152914584 : TGATTTCTCT GGGGAAAAGG AGGACTGGAG TTGATCATTT ATTGAGGCCA : 152914633
152914634 : TCAGAAGCGG ATGGCTAATT ACATATGGGA CATGTGTTAA TAATGCTTTG : 152914683
152914684 : TGTATATAGA GTGGCCTTTA CTTTCAAAAC ACTCTTCTCC AATTTATCAT : 152914733
152914734 : GTTAAAAGCT AGGAATTGGG CTGGGTGCAG TGGCTCACGC CTATAATCCC : 152914783
152914784 : AGCACTTTGG GAGGCCAAGG CGGGTGGATC ATTTGAGGTC AGGAGTTTGA : 152914833
152914834 : GACCAGTCTG ACCAACATGG TTAAACTCCG TCTCTACTAA AAATACAAAA : 152914883
152914884 : TTAGCCAGGC GTGGTGGCAC ACACCTGTAG TCCCAACAAC TACTTGTGAG : 152914933
152914934 : GCTGAGGCAG GAAAATCATT TGAACCCAGG ATCAGAGGTT GTGGTGAACT : 152914983
152914984 : GAGATTGCAC CATTGCACTC CAGCCTGGGC AACAAGAGCA AAACTCTATC : 152915033
152915034 : TCAAAAAAAA TAAAAAATAG CCAGGCACGG TGGCTCATGC CTGTAATCCT : 152915083
152915084 : AGCACTTTGG GAGGCAGAGG TGGGCAGATC ACCTGAGGTT AGGAGTTCGA : 152915133
152915134 : GACTAGCCTG GCCAACATGG TGAAACCCCA TCTCTACTAC AAATACAAAA : 152915183
152915184 : ATTAGCTAGG CATGGTGGCA GCCACCTGTA ATCCCAGCTA CTTGGGAGGC : 152915233
152915234 : TGAGGCAGGA GAATCGCTTG AACCCGGGAG GTGGAGGTTG CAGTGAGCCA : 152915283
152915284 : AGATCGGGTC ACAGCACTCC AGCCTAGGCA ACAGAGCGAG ACTCCATCTC : 152915333
152915334 : AAAAAAACAT AAATAAATAA AAATAAAAAT AAATAATAAA TAAAAGCTAA : 152915383
152915384 : GAATCAAAGA AGCAGTTTAT TCCTAATTTC ACAGTCTCAT CTGTTCATAG : 152915433
152915434 : TGGGGCCAGG ATTAGAGTCA GTGGCCAAGC TTCCATCCTG GGTTCTTTCC : 152915483
152915484 : CTTCCCAGGC CCTACCATCA TAGTATACCA GGGAAAGACC TGGAGAAGCC : 152915533
152915534 : AGCAGGTTGA CCACCGAACC AAGGCTGGGC CACCTTCCTC CTGGGTCTGG : 152915583
152915584 : TCTCCAGCCT CCCAGTTGTA CCCTTCCCCC AGCCCTTCCT GGATGCACTG : 152915633
152915634 : ATCAGCCTGT GCTTCCTTGC CCTGTTTTTC TTTATAAATA GAGCCATGTT : 152915683
152915684 : CTCCTCTCTC TCTCTCTCTT TTTTTTTTTT TTTTTTTTGA GATGGAGTCT : 152915733
152915734 : TACTCTGTCA CCCAGGCTGG AGTGCAATGG CACGATCTCA GCTCACTGCA : 152915783
152915784 : ACCTCTGTCT CCCAGGTTCA AGCAATTCTC CTGCCTCAGC CTCCCGAGTA : 152915833
152915834 : GCTGGGATTA CAGGTGCCCA CCACCATGCC CAGCTACTTT TTGGATTTTT : 152915883
152915884 : AGTAGAGACA GGGTTTCACC ATGTTGGTCA GGCTGGTCTT GAACTCCTGA : 152915933
152915934 : CCTTAGGTGT TCTGCCCGCC TCAGCCTCCC AAAGTGCTGG GATTACAGGC : 152915983
152915984 : GTGAGCCACC ACGCCTGGCA AGACGTGTTC TCTCTATGTT GTTGAGGCTG : 152916033
152916034 : GTCTTGAACT CCTGGCTGCA AGAGATCTTC CTGCCTCAGC CTCCCAATGT : 152916083
152916084 : GCTGGGATTA TAGGCATGAG CCACCACACT TAGCCCAGCC TGTGCTTTCT : 152916133
152916134 : TAAATGAAAA TCTAAGCATA CGGCTGGGTG TGGTGGCTCA CGCCTGTAAT : 152916183
152916184 : CCCAGCATTT TGGGAGGCCA AGGTGGGCAG ATCACGAGGT CAGGAGATCG : 152916233
152916234 : AGACTATCCT GGCCAACATG GTGAAACCCT GTCTCTACTA AAGATACAAA : 152916283
152916284 : AATTAGCTGG GTGTGGTGGC CCATGTCTGT AGTCCCAGCT ACTCGGGAGA : 152916333
152916334 : CTGAGGCAGG AGAATGGCAT GAACCTGGGA GGCAGAGCTT GCAGTGAGCT : 152916383
152916384 : GAGATCGCGC CACTGCTCTC CAGCCTAGGT GACAGAGCGA GACTCCATCT : 152916433
152916434 : CAAAAAAAAA ATAAAAATAA AAAAAAGAAA ATCTAAGCGT GGTGCTCCCC : 152916483
152916484 : TGCTCAAACA TCCTCAGGTT CTTTTCATGG CAGATAAGGG CATCTCTTCA : 152916533
152916534 : TGAGCCAGCC CCTGCCTACT GACCCAGCCA CCTCTCCCAT CCCTTCCCAC : 152916583
152916584 : CCCGTACTTC AGGCTTCAGC AGTACTGATC TTTCCAAAGA CCCCAGAACA : 152916633
152916634 : CACATGCCTT CATACCTCTG TGCCTGTACA TGCTTGTTTC TGCCCTTGAA : 152916683
152916684 : ATCATGACAG TAGCTCTCTG TAGGCCCCGC TAGCCTGTCC CTTGGGTCTT : 152916733
152916734 : AGCCTCTTGG AGGCCTTCCC AGAGCCCCCC AAAAGTACCC CAGGCATACT : 152916783
152916784 : TTGGTTCCTT CTCTCATGTC CCCTCAGTAC TTTGCACATA CCTCCTTTAT : 152916833
152916834 : AGCAGTTGCT ATGTTGTGCC AGAGAAGGGA GTCCTGTGGC TGGGGGGCAT : 152916883
152916884 : ATATCTTTTC TTTTTGAGAC AGAGTCTAGC TGTGTCACCC AGGCTGGAGT : 152916933
152916934 : GCAGTAGTGC GATCTCGGCT CACTGCAACC TCCACCTCCT GGATTCAAGC : 152916983
152916984 : GATTCTTGTG CCTCAGCCTC CTGAGTAGCT GGGACTACAG GCGTGTGCCA : 152917033
152917034 : CCATCATGCC TGGCTACTTT TTTGTATTAG ATATATATTT TCTCTCTTAG : 152917083
152917084 : CACAGTACCT ACCAAGAGTG AGTGAGTAGA TGTCCTGACC CCTGCAGGCA : 152917133
152917134 : TCCAAGGCCC TCCTTCCCTG GACCTGTTTC CACATGTGTG AAGGGGTGCA : 152917183
152917184 : CAGGCAGCAG CCCACCTCTC AGCTTCCTTC CAGTTCTTGT GTTCTGTGAC : 152917233
VARIANTS : A : VARIANTS
152917234 : CCCTTTTCCT CATCTCTGCC TGCTTCCTCA CAGCTTGAGG CAGCCCTAGG : 152917283
514 : CTTGAGG CAGCCCTAGG : 530
172 : L E A A L G : 177
VARIANTS : C A TA G : VARIANTS
152917284 : TGAGGCCAAG AAGCAACTTC AGGATGAGAT GCTGCGGCGG GTGGATGCTG : 152917333
531 : TGAGGCCAAG AAGCAACTTC AGGATGAGAT GCTGCGGCGG GTGGATGCTG : 580
178 : E A K K Q L Q D E M L R R V D A : 193
VARIANTS : P K Q G : VARIANTS
VARIANTS : W : VARIANTS
VARIANTS : G G ddd : VARIANTS
VARIANTS : A ddd dddddd AT A dddd G : VARIANTS
152917334 : AGAACAGGCT GCAGACCATG AAGGAGGAAC TGGACTTCCA GAAGAACATC : 152917383
581 : AGAACAGGCT GCAGACCATG AAGGAGGAAC TGGACTTCCA GAAGAACATC : 630
194 : E N R L Q T M K E E L D F Q K N I : 210
VARIANTS : K dddd dddddd V d f S : VARIANTS
VARIANTS : K G d : VARIANTS
VARIANTS : K : VARIANTS
152917384 : TACAGTGAGG TGGGGACTGT GCTTTGCAAG CCAGAGGGCT GGGGCTGGGT : 152917433
631 : TACAGTGAG : 639
211 : Y S E : 213
152917434 : GATGACAGAC TTGGGCTGGG CTAGGGGGGA CCAGCTGTGT GCAGAGCTCG : 152917483
152917484 : CCTTCCTGAG TCCCTTGCCC TAGTGGACAG GGAGTTGGGG GTGGCCAGCA : 152917533
152917534 : CTCAGCTCCC AGGTTAAAGT GGGGCTGGTA GTGGCTCATG GAGTAGGGCT : 152917583
152917584 : GGGCAGGGAG CCCCGCCCCT GGGTCTTGGC CTCCCAGGAA CTAATTCTGA : 152917633
VARIANTS : G C : VARIANTS
152917634 : TTTTGGTTTC TGTGTCCTTC CTCCAACCCT TCCAGGAGCT GCGTGAGACC : 152917683
640 : GAGCT GCGTGAGACC : 654
214 : E L R E T : 218
VARIANTS : P : VARIANTS
VARIANTS : C T C T A A T : VARIANTS
152917684 : AAGCGCCGTC ATGAGACCCG ACTGGTGGAG ATTGACAATG GGAAGCAGCG : 152917733
655 : AAGCGCCGTC ATGAGACCCG ACTGGTGGAG ATTGACAATG GGAAGCAGCG : 704
219 : K R R H E T R L V E I D N G K Q R : 235
VARIANTS : T Y X N E X : VARIANTS
VARIANTS : P : VARIANTS
VARIANTS : A T C TA : VARIANTS
152917734 : TGAGTTTGAG AGCCGGCTGG CGGATGCGCT GCAGGAACTG CGGGCCCAGC : 152917783
705 : TGAGTTTGAG AGCCGGCTGG CGGATGCGCT GCAGGAACTG CGGGCCCAGC : 754
236 : E F E S R L A D A L Q E L R A Q : 251
VARIANTS : X P W : VARIANTS
VARIANTS : Q : VARIANTS
VARIANTS : G A ddd CG : VARIANTS
152917784 : ATGAGGACCA GGTGGAGCAG TATAAGAAGG AGCTGGAGAA GACTTATTCT : 152917833
755 : ATGAGGACCA GGTGGAGCAG TATAAGAAGG AGCTGGAGAA GACTTATTCT : 804
252 : H E D Q V E Q Y K K E L E K T Y S : 268
VARIANTS : X N d C : VARIANTS
VARIANTS : D H : VARIANTS
VARIANTS : T : VARIANTS
152917834 : GCCAAGGTGC TTGCTCTCGA TTGGTTCCCT CACTGCCTCT GCCCTTGGCA : 152917883
805 : GCCAAG : 810
269 : A K : 270
VARIANTS : T A : VARIANTS
152917884 : GCCCTACCCT TACCCACGCT GGGCTATGCC TTCTGGGGAT CAGGCAGATG : 152917933
152917934 : GTGGCAGGGA GCTCAGGGTG GCCCAGGACC TGGGGCTGTA GCAGTGATGC : 152917983
152917984 : CCAACTCAGG CCTGTGCCTC CACCCCTCCC AGTCACCACA GTCCTAACCC : 152918033
152918034 : TTTGTCCTCC CCTCCAGCTG GACAATGCCA GGCAGTCTGC TGAGAGGAAC : 152918083
811 : CTG GACAATGCCA GGCAGTCTGC TGAGAGGAAC : 843
271 : L D N A R Q S A E R N : 281
VARIANTS : dddd : VARIANTS
VARIANTS : d C dddd C T : VARIANTS
152918084 : AGCAACCTGG TGGGGGCTGC CCACGAGGAG CTGCAGCAGT CGCGCATCCG : 152918133
844 : AGCAACCTGG TGGGGGCTGC CCACGAGGAG CTGCAGCAGT CGCGCATCCG : 893
282 : S N L V G A A H E E L Q Q S R I R : 298
VARIANTS : f f P C : VARIANTS
VARIANTS : f : VARIANTS
VARIANTS : A C Cdd T : VARIANTS
152918134 : CATCGACAGC CTCTCTGCCC AGCTCAGCCA GCTCCAGAAG CAGGTGATAC : 152918183
894 : CATCGACAGC CTCTCTGCCC AGCTCAGCCA GCTCCAGAAG CAG : 936
299 : I D S L S A Q L S Q L Q K Q : 312
VARIANTS : N P f : VARIANTS
VARIANTS : P : VARIANTS
152918184 : CCCACCTCAC CCCTCTCTCC AGGGGCCTAG AGTCTGGGCC GGATGCAGGC : 152918233
152918234 : TGGAAGCCCA GGGTTGGGGG TGGGGGTGGG GGTGGGAGGT TCCTGAGGAG : 152918283
152918284 : GAGAGGGATG AAAAGTGTCC CCACAACCAC AGAGAAGGGT CGCAGGATGT : 152918333
152918334 : GGAGTCAGAT GGCCTGTGTG CTGTTTCTGT ACACTCTTAC CTCACCTTCA : 152918383
152918384 : CTTCTCAGGG CTTTGGTTTT CCCATTCGAA AATGGAGGCT GTTCTTAATC : 152918433
152918434 : TCCCTAACTC AGAGTTGCCA CAGGACTCTG CAATGTGAGG TGTTAAAAGC : 152918483
152918484 : ATCAGTATTT TTCTAGTTGG CTGTGCTATT TGTGACAGGA GAAAAAGTCT : 152918533
152918534 : AGCCTCAGAA CGAGAGGTTT CAGTTAGACA AGGGGAAGGA CTTCCCAGTT : 152918583
152918584 : GCCAGCCAAG ACTATGTTTA GAGCTTGTGA TGTTCAGAGC TGGCTCTGAT : 152918633
152918634 : GAGGGCTCTG GGGAAGCTCT GATTGCAGAT CCTGGAGAGA GTAGCCAGGT : 152918683
VARIANTS : G : VARIANTS
152918684 : GTCTCCTACA CCGACCCACG TCCCTCCTTC CCCATACTTA GGGCCCTTGG : 152918733
VARIANTS : G A A : VARIANTS
152918734 : GAGCTCACCA AACCCTCCCA CCCCCCTTCA GCTGGCAGCC AAGGAGGCGA : 152918783
937 : CTGGCAGCC AAGGAGGCGA : 955
313 : L A A K E A : 318
VARIANTS : K T : VARIANTS
VARIANTS : A : VARIANTS
VARIANTS : d T A C : VARIANTS
152918784 : AGCTTCGAGA CCTGGAGGAC TCACTGGCCC GTGAGCGGGA CACCAGCCGG : 152918833
956 : AGCTTCGAGA CCTGGAGGAC TCACTGGCCC GTGAGCGGGA CACCAGCCGG : 1005
319 : K L R D L E D S L A R E R D T S R : 335
VARIANTS : f X T P : VARIANTS
VARIANTS : E : VARIANTS
VARIANTS : A A A T T : VARIANTS
152918834 : CGGCTGCTGG CGGAAAAGGA GCGGGAGATG GCCGAGATGC GGGCAAGGAT : 152918883
1006 : CGGCTGCTGG CGGAAAAGGA GCGGGAGATG GCCGAGATGC GGGCAAGGAT : 1055
336 : R L L A E K E R E M A E M R A R M : 352
VARIANTS : Q Q K L : VARIANTS
VARIANTS : W : VARIANTS
VARIANTS : T : VARIANTS
VARIANTS : C A d A : VARIANTS
152918884 : GCAGCAGCAG CTGGACGAGT ACCAGGAGCT TCTGGACATC AAGCTGGCCC : 152918933
1056 : GCAGCAGCAG CTGGACGAGT ACCAGGAGCT TCTGGACATC AAGCTGGCCC : 1105
353 : Q Q Q L D E Y Q E L L D I K L A : 368
VARIANTS : H K f : VARIANTS
VARIANTS : X : VARIANTS
VARIANTS : A : VARIANTS
VARIANTS : A d T C C T A : VARIANTS
152918934 : TGGACATGGA GATCCACGCC TACCGCAAGC TCTTGGAGGG CGAGGAGGAG : 152918983
1106 : TGGACATGGA GATCCACGCC TACCGCAAGC TCTTGGAGGG CGAGGAGGAG : 1155
369 : L D M E I H A Y R K L L E G E E E : 385
VARIANTS : K f L S A : VARIANTS
VARIANTS : H : VARIANTS
VARIANTS : AA A : VARIANTS
152918984 : AGGTGGGCTG GGGAGACGTC GGGGAGGTGC TGGCAGTGTC CTCTGGCCGG : 152919033
1156 : AG : 1157
386 : R : 386
VARIANTS : K : VARIANTS
VARIANTS : T G TA : VARIANTS
152919034 : CAACTGGCCT TGACTAGACC CCCACTTGGT CTCCCTCTCC CCAGGCTACG : 152919083
1158 : GCTACG : 1163
387 : L R : 388
VARIANTS : V H : VARIANTS
VARIANTS : C : VARIANTS
VARIANTS : G TA T : VARIANTS
152919084 : CCTGTCCCCC AGCCCTACCT CGCAGCGCAG CCGTGGCCGT GCTTCCTCTC : 152919133
1164 : CCTGTCCCCC AGCCCTACCT CGCAGCGCAG CCGTGGCCGT GCTTCCTCTC : 1213
389 : L S P S P T S Q R S R G R A S S : 404
VARIANTS : R C C : VARIANTS
VARIANTS : H : VARIANTS
VARIANTS : A : VARIANTS
VARIANTS : A C : VARIANTS
152919134 : ACTCATCCCA GACACAGGGT GGGGGCAGCG TCACCAAAAA GCGCAAACTG : 152919183
1214 : ACTCATCCCA GACACAGGGT GGGGGCAGCG TCACCAAAAA GCGCAAACTG : 1263
405 : H S S Q T Q G G G S V T K K R K L : 421
VARIANTS : I P : VARIANTS
VARIANTS : I : VARIANTS
VARIANTS : T ii : VARIANTS
152919184 : GAGTCCACTG AGAGCCGCAG CAGCTTCTCA CAGCACGCAC GCACTAGCGG : 152919233
1264 : GAGTCCACTG AGAGCCGCAG CAGCTTCTCA CAGCACGCAC GCACTAGCGG : 1313
422 : E S T E S R S S F S Q H A R T S G : 438
VARIANTS : f : VARIANTS
VARIANTS : A : VARIANTS
VARIANTS : T A TC TC : VARIANTS
152919234 : GCGCGTGGCC GTGGAGGAGG TGGATGAGGA GGGCAAGTTT GTCCGGCTGC : 152919283
1314 : GCGCGTGGCC GTGGAGGAGG TGGATGAGGA GGGCAAGTTT GTCCGGCTGC : 1363
439 : R V A V E E V D E E G K F V R L : 454
VARIANTS : C M V W : VARIANTS
VARIANTS : M P : VARIANTS
VARIANTS : ddd : VARIANTS
VARIANTS : C GTA d A : VARIANTS
152919284 : GCAACAAGTC CAATGAGGTA GGCTCCTGCT CAGGGTCTAA GGGGATACAG : 152919333
1364 : GCAACAAGTC CAATGAG : 1380
455 : R N K S N E : 460
VARIANTS : P I f : VARIANTS
VARIANTS : K : VARIANTS
VARIANTS : d : VARIANTS
VARIANTS : D : VARIANTS
152919334 : CTGCATCAGG GAGAGAGTGG CAAGACAGAA GGATGGCATG TGGAGAGAGG : 152919383
152919384 : AACATCCTTG CCCTCAGAGG GTGGACCAGG GTGAGCCTGT ATATCTCCTC : 152919433
152919434 : CACACTCTGG TTCCAGGCCT GGCTCCTGGA CTCTTTGGCT GTGAGACCTT : 152919483
152919484 : GAGCAGGTTA TTTAACCTCT CAGAGCATCA GTTTCCTCAT CTGTAAAATG : 152919533
152919534 : GGGATGAATA CTGATCCCTA AGTCTTTGAG TTGTCAGGAA GATGAAAGAT : 152919583
152919584 : AAGGTATCCG TGTGCCTGGT GCTGCGTATG TGTCCACAGA TCATGGCTAT : 152919633
152919634 : TATCCCCGGG GGAAGGGCAG TGACAGGGGT GTGTGTAGAT GGAAGGAGAG : 152919683
152919684 : GCCTCAATTG CAGGCAGGCA GAGGGCTGGG CCTTTGAGCA AGATACACCC : 152919733
VARIANTS : G : VARIANTS
152919734 : AAGAGCCTGG GTGAGCCTCC CCGACCTTCC TCTTCCCTAT CTTCCCGGCA : 152919783
VARIANTS : T : VARIANTS
VARIANTS : A d C GA ii : VARIANTS
152919784 : GGACCAGTCC ATGGGCAATT GGCAGATCAA GCGCCAGAAT GGAGATGATC : 152919833
1381 : GACCAGTCC ATGGGCAATT GGCAGATCAA GCGCCAGAAT GGAGATGATC : 1429
461 : D Q S M G N W Q I K R Q N G D D : 476
VARIANTS : D f T G iiii : VARIANTS
VARIANTS : H : VARIANTS
VARIANTS : C : VARIANTS
VARIANTS : A : VARIANTS
VARIANTS : T C : VARIANTS
VARIANTS : C GTA T C T : VARIANTS
152919834 : CCTTGCTGAC TTACCGGTTC CCACCAAAGT TCACCCTGAA GGCTGGGCAG : 152919883
1430 : CCTTGCTGAC TTACCGGTTC CCACCAAAGT TCACCCTGAA GGCTGGGCAG : 1479
477 : P L L T Y R F P P K F T L K A G Q : 493
VARIANTS : H Q N P X : VARIANTS
VARIANTS : X L N : VARIANTS
VARIANTS : X W : VARIANTS
VARIANTS : Q : VARIANTS
VARIANTS : Q : VARIANTS
VARIANTS : A : VARIANTS
VARIANTS : C : VARIANTS
152919884 : GTGGTGACGG TGAGTGGCAG GGCGCTTGGG ACTCTGGGGA GGCCTTGGGT : 152919933
1480 : GTGGTGACG : 1488
494 : V V T : 496
VARIANTS : T AdT : VARIANTS
152919934 : GGCGATGGGA GCGCTGGGGT AAGTGTCCTT TTCTCCTCTC CAGATCTGGG : 152919983
1489 : ATCTGGG : 1495
497 : I W : 498
VARIANTS : C : VARIANTS
VARIANTS : dddddd : VARIANTS
VARIANTS : R : VARIANTS
VARIANTS : d ii G ii C : VARIANTS
152919984 : CTGCAGGAGC TGGGGCCACC CACAGCCCCC CTACCGACCT GGTGTGGAAG : 152920033
1496 : CTGCAGGAGC TGGGGCCACC CACAGCCCCC CTACCGACCT GGTGTGGAAG : 1545
499 : A A G A G A T H S P P T D L V W K : 515
VARIANTS : f f D f P : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
VARIANTS : f : VARIANTS
VARIANTS : ii G : VARIANTS
VARIANTS : A T : VARIANTS
VARIANTS : A T : VARIANTS
VARIANTS : GC TC A A T C : VARIANTS
152920034 : GCACAGAACA CCTGGGGCTG CGGGAACAGC CTGCGTACGG CTCTCATCAA : 152920083
1546 : GCACAGAACA CCTGGGGCTG CGGGAACAGC CTGCGTACGG CTCTCATCAA : 1595
516 : A Q N T W G C G N S L R T A L I N : 532
VARIANTS : G P K T P : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
VARIANTS : S H M V : VARIANTS
VARIANTS : H M : VARIANTS
VARIANTS : f R : VARIANTS
VARIANTS : C : VARIANTS
VARIANTS : A C : VARIANTS
152920084 : CTCCACTGGG GAAGTAAGTA GGCCTGGGCC TGGCTGCTTG CTGGACGAGG : 152920133
1596 : CTCCACTGGG GAA : 1608
533 : S T G E : 536
VARIANTS : f : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152920134 : CTCCCCCTGA TGGCCAACAT CGGAGCCAGC TGCCCCCAAC CCAAGTTTGC : 152920183
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152920184 : CAATTCAGGG CCCCTTTCTA GAGCTCTCTG TTGCAGGCTC CAGACTTCTC : 152920233
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152920234 : CACCCAGTAG GCAAACCAAA AGATGCTTCC TCAACAGCAC AAGGGGTGGA : 152920283
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152920284 : AGTTAGACAG TGAGGATTGT TAAAGGCAGA GCCATACTCC TACCCGGAGA : 152920333
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152920334 : GCTTGACAGT GTCCCTCTGG GGTGGAAATG AGTTCCTTAG CTCCATCACC : 152920383
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152920384 : ACAGAGGACA GAGTAAGCAG CAGGCCGGAC AAAGGGCAGG CCACAAGAAA : 152920433
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152920434 : AGTTGCAGGT GGTCACTGGG GTAGACATGC TGTACAACCC TTCCCTGGCC : 152920483
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
VARIANTS : TA : VARIANTS
VARIANTS : G G G C AC : VARIANTS
152920484 : CTGACCCTTG GACCTGGTTC CATGTCCCCA CCAGGAAGTG GCCATGCGCA : 152920533
1609 : GAAGTG GCCATGCGCA : 1624
537 : E V A M R : 541
VARIANTS : f T K : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
VARIANTS : S : VARIANTS
VARIANTS : C : VARIANTS
VARIANTS : H : VARIANTS
VARIANTS : C : VARIANTS
152920534 : AGCTGGTGCG CTCAGTGACT GTGGTTGAGG ACGACGAGGA TGAGGATGGA : 152920583
1625 : AGCTGGTGCG CTCAGTGACT GTGGTTGAGG ACGACGAGGA TGAGGATGGA : 1674
542 : K L V R S V T V V E D D E D E D G : 558
VARIANTS : N : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
VARIANTS : T : VARIANTS
152920584 : GATGACCTGC TCCATCACCA CCACGTGAGT GGTAGCCGCC GCTGAGGCCG : 152920633
1675 : GATGACCTGC TCCATCACCA CCAC : 1698
559 : D D L L H H H H : 566
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152920634 : AGCCTGCACT GGGGCCACCC AGCCAGGCCT GGGGGCAGCC TCTCCCCAGC : 152920683
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152920684 : CTCCCCGTGC CAAAAATCTT TTCATTAAAG AATGTTTTGG AACTTTACTC : 152920733
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152920734 : GCTGGCCTGG CCTTTCTTCT CTCTCCTCCC TATACCTTGA ACAGGGAACC : 152920783
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152920784 : CAGGTGTCTG GGTGCCCTAC TCTGGTAAGG AAGGGAGTGG GAACTTTCTG : 152920833
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152920834 : ATGCCATGGA ATATTCCTGT GGGAGCAGTG GACAAGGGTC TGGATTTGTC : 152920883
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152920884 : TTCTGGGAAA GGGAGGGGAG GACAGACGTG GGGCATGCCC GCCCTGCCTC : 152920933
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152920934 : TCTCCCCCAT TCTTGTTGCA TGCATATCCT CTCATTTCCC TCATTTTTCC : 152920983
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152920984 : TGCAAGAATG TTCTCTCTCA TTCCTGACCG CCCCTCCACT CCAATTAATA : 152921033
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152921034 : GTGCATGCCT GCTGCCCTAC AAGCTTGCTC CCGTTCTCTC TTCTTTTCCT : 152921083
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152921084 : CTTAAGCTCA GAGTAGCTAG AACAGAGTCA GAGTCACTGC TCTGGTTCTC : 152921133
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152921134 : TGTCCCCAAG TCTTCCTGAG CCTTCTCCCC TTTTATGTCT TCCCTCTCCT : 152921183
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152921184 : CCTCCGGGCC CCTAGCCTCC CAAACCCCCA TTGCCCGCTG GCTCCTTGGG : 152921233
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152921234 : CACAGAACCA CACCTTCCTG CCTGGCGGCT GGGAGCCTGC AGGAGCCTGG : 152921283
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152921284 : AGCCTGGTTG GGCCTGAGTG GTCAGTCCCA GACTCGCCGT CCCGCCTGAG : 152921333
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
VARIANTS : T : VARIANTS
152921334 : CCTTGTCTCC CTTCCCAGGG CTCCCACTGC AGCAGCTCGG GGGACCCCGC : 152921383
1699 : GG CTCCCACTGC AGCAGCTCGG GGGACCCCGC : 1730
567 : G S H C S S S G D P A : 577
VARIANTS : L : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
VARIANTS : d dddddddddd dddddddddd dddddddddd : VARIANTS
VARIANTS : T : VARIANTS
VARIANTS : T A T A T : VARIANTS
152921384 : TGAGTACAAC CTGCGCTCGC GCACCGTGCT GTGCGGGACC TGCGGGCAGC : 152921433
1731 : TGAGTACAAC CTGCGCTCGC GCACCGTGCT GTGCGGGACC TGCGGGCAGC : 1780
578 : E Y N L R S R T V L C G T C G Q : 593
VARIANTS : V H L H : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
VARIANTS : L : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
VARIANTS : T : VARIANTS
VARIANTS : T : VARIANTS
VARIANTS : TA AA T : VARIANTS
152921434 : CTGCCGACAA GGCATCTGCC AGCGGCTCAG GAGCCCAGGT GGGCGGACCC : 152921483
1781 : CTGCCGACAA GGCATCTGCC AGCGGCTCAG GAGCCCAGGT GGGCGGACCC : 1830
594 : P A D K A S A S G S G A Q V G G P : 610
VARIANTS : S S : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
VARIANTS : d dddddddddd : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
VARIANTS : d dddddddddd : VARIANTS
VARIANTS : G A : VARIANTS
152921484 : ATCTCCTCTG GCTCTTCTGC CTCCAGTGTC ACGGTCACTC GCAGCTACCG : 152921533
1831 : ATCTCCTCTG GCTCTTCTGC CTCCAGTGTC ACGGTCACTC GCAGCTACCG : 1880
611 : I S S G S S A S S V T V T R S Y R : 627
VARIANTS : S H : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
VARIANTS : dddddd dddddddddd : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
VARIANTS : A : VARIANTS
VARIANTS : T T : VARIANTS
152921534 : CAGTGTGGGG GGCAGTGGGG GTGGCAGCTT CGGGGACAAT CTGGTCACCC : 152921583
1881 : CAGTGTGGGG GGCAGTGGGG GTGGCAGCTT CGGGGACAAT CTGGTCACCC : 1930
628 : S V G G S G G G S F G D N L V T : 643
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
VARIANTS : A : VARIANTS
VARIANTS : T ii A : VARIANTS
152921584 : GCTCCTACCT CCTGGGCAAC TCCAGCCCCC GAACCCAGGT GAGTTGTCTC : 152921633
1931 : GCTCCTACCT CCTGGGCAAC TCCAGCCCCC GAACCCAG : 1968
644 : R S Y L L G N S S P R T Q : 656
VARIANTS : C X f : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddddddd ddddddd : VARIANTS
VARIANTS : H : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddddddd ddddddd : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddddddd ddddddd : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddddddd ddddddd : VARIANTS
152921634 : TGCTTTGTCT CCAAATCCTG CAGGCGGGTC CCTGGTCATC GAGGGGTAGG : 152921683
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152921684 : ACGAGGTGGC CTTGCAGGGG GGAGAGCCTG CCTTCTCTTC CGCAGCCCGG : 152921733
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152921734 : GGGAGTGGGA GCCTCCTCCC CACAGCCTGA GTCCTAGACA GCCCACCTCT : 152921783
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152921784 : GCATCCTGCC CCTCTTGTCT GAGCCCCAGA CTGGAGGGCA GGGGCAGGGC : 152921833
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152921834 : TGGAGTGTGA GGGATGGGGG AGATGCTACC TCCCTTCTAG GGGCCAGGGG : 152921883
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152921884 : AGGGAGGGTC TGGGTCCAGG CCCTGCTGCT CACACCTCTC TCCTCTGTTT : 152921933
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS
152921934 : TCTCTCTTAG AGCCCCCAGA ACTGCAGCAT CATGTAATCT GGGACCTGCC : 152921983
1969 : AGCCCCCAGA ACTGCAGCAT CATGTAATCT GGGACCTGCC : *13
657 : S P Q N C S I M : 664
VARIANTS : dddddddddd dddddddddd dddddddddd ddd : VARIANTS
152921984 : AGGCAGGGGT GGGGGTGGAG GCTTCCTGCG TCCTCCTCAC CTCATGCCCA : 152922033
*14 : AGGCAGGGGT GGGGGTGGAG GCTTCCTGCG TCCTCCTCAC CTCATGCCCA : *63
VARIANTS : C : VARIANTS
152922034 : CCCCCTGCCC TGCACGTCAT GGGAGGGGGC TTGAAGCCAA AGAAAAATAA : 152922083
*64 : CCCCCTGCCC TGCACGTCAT GGGAGGGGGC TTGAAGCCAA AGAAAAATAA : *113
152922084 : CCCTTTGGTT TTTTTCTTCT GTATTTTTTT TTCTAAGAGA AGTTATTTTC : 152922133
*114 : CCCTTTGGTT TTTTTCTTCT GTATTTTTTT TTCTAAGAGA AGTTATTTTC : *163
152922134 : TACAGTGGTT TTATACTGAA GGAAAAACAC AAGCAAAAAA AAAAAAAAGC : 152922183
*164 : TACAGTGGTT TTATACTGAA GGAAAAACAC AAGCAAAAAA AAAAAAAAGC : *213
152922184 : ATCTATCTCA TCTATCTCAA TCCTAATTTC TCCTCCCTTC CTTTTCCCTG : 152922233
*214 : ATCTATCTCA TCTATCTCAA TCCTAATTTC TCCTCCCTTC CTTTTCCCTG : *263
152922234 : CTTCCAGGAA ACTCCACATC TGCCTTAAAA CCAAAGAGGG CTTCCTCTAG : 152922283
*264 : CTTCCAGGAA ACTCCACATC TGCCTTAAAA CCAAAGAGGG CTTCCTCTAG : *313
152922284 : AAGCCAAGGG AAAGGGGTGC TTTTATAGAG GCTAGCTTCT GCTTTTCTGC : 152922333
*314 : AAGCCAAGGG AAAGGGGTGC TTTTATAGAG GCTAGCTTCT GCTTTTCTGC : *363
152922334 : CCTGGCTGCT GCCCCCACCC CGGGGACCCT GTGACATGGT GCCTGAGAGG : 152922383
*364 : CCTGGCTGCT GCCCCCACCC CGGGGACCCT GTGACATGGT GCCTGAGAGG : *413
152922384 : CAGGCATAGA GGCTTCTCCG CCAGCCTCCT CTGGACGGCA GGCTCACTGC : 152922433
*414 : CAGGCATAGA GGCTTCTCCG CCAGCCTCCT CTGGACGGCA GGCTCACTGC : *463
152922434 : CAGGCCAGCC TCCGAGAGGG AGAGAGAGAG AGAGAGGACA GCTTGAGCCG : 152922483
*464 : CAGGCCAGCC TCCGAGAGGG AGAGAGAGAG AGAGAGGACA GCTTGAGCCG : *513
152922484 : GGCCCCTGGG CTTGGCCTGC TGTGATTCCA CTACACCTGG CTGAGGTTCC : 152922533
*514 : GGCCCCTGGG CTTGGCCTGC TGTGATTCCA CTACACCTGG CTGAGGTTCC : *563
152922534 : TCTGCCTGCC CCGCCCCCAG TCCCCACCCC TGCCCCCAGC CCCGGGGTGA : 152922583
*564 : TCTGCCTGCC CCGCCCCCAG TCCCCACCCC TGCCCCCAGC CCCGGGGTGA : *613
152922584 : GTCCATTCTC CCAGGTACCA GCTGCGCTTG CTTTTCTGTA TTTTATTTAG : 152922633
*614 : GTCCATTCTC CCAGGTACCA GCTGCGCTTG CTTTTCTGTA TTTTATTTAG : *663
152922634 : ACAAGAGATG GGAATGAGGT GGGAGGTGGA AGAAGGGAGA AGAAAGGTGA : 152922683
*664 : ACAAGAGATG GGAATGAGGT GGGAGGTGGA AGAAGGGAGA AGAAAGGTGA : *713
152922684 : GTTTGAGCTG CCTTCCCTAG CTTTAGACCC TGGGTGGGCT CTGTGCAGTC : 152922733
*714 : GTTTGAGCTG CCTTCCCTAG CTTTAGACCC TGGGTGGGCT CTGTGCAGTC : *763
152922734 : ACTGGAGGTT GAAGCCAAGT GGGGTGCTGG GAGGAGGGAG AGGGAGGTCA : 152922783
*764 : ACTGGAGGTT GAAGCCAAGT GGGGTGCTGG GAGGAGGGAG AGGGAGGTCA : *813
152922784 : CTGGAAAGGG GAGAGCCTGC TGGCACCCAC CGTGGAGGAG GAAGGCAAGA : 152922833
*814 : CTGGAAAGGG GAGAGCCTGC TGGCACCCAC CGTGGAGGAG GAAGGCAAGA : *863
152922834 : GGGGGTGGAG GGGTGTGGCA GTGGTTTTGG CAAACGCTAA AGAGCCCTTG : 152922883
*864 : GGGGGTGGAG GGGTGTGGCA GTGGTTTTGG CAAACGCTAA AGAGCCCTTG : *913
152922884 : CCTCCCCATT TCCCATCTGC ACCCCTTCTC TCCTCCCCAA ATCAATACAC : 152922933
*914 : CCTCCCCATT TCCCATCTGC ACCCCTTCTC TCCTCCCCAA ATCAATACAC : *963
152922934 : TAGTTGTTTC TACCCCTG-- ---------- ------ : 152922951
*964 : TAGTTGTTTC TACCCCTGAA AAAAAAAAAA AAAAAA : *999
|
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| mRNA SEQUENCE |
|---|
Reference sequence last updated on 2009-07-21 17:08:58 | RefSeq ID | NM_170707.2 |
|---|
| GI | 153281093 |
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| Length | 3243 nucleotides |
|---|
| Download | File | Text |
|---|
| Sequence | Legend: Blue = CDS, Red = UTR -249 AGGAGGACCT ATTAGAGCCT TTGCCCCGGC GTCGGTGACT CAGTGTTCGC -200
-199 GGGAGCGCCG CACCTACACC AGCCAACCCA GATCCCGAGG TCCGACAGCG -150
-149 CCCGGCCCAG ATCCCCACGC CTGCCAGGAG CAAGCCGAGA GCCAGCCGGC -100
-99 CGGCGCACTC CGACTCCGAG CAGTCTCTGT CCTTCGACCC GAGCCCCGCG -50
-49 CCCTTTCCGG GACCCCTGCC CCGCGGGCAG CGCTGCCAAC CTGCCGGCCA 1
2 TGGAGACCCC GTCCCAGCGG CGCGCCACCC GCAGCGGGGC GCAGGCCAGC 51
52 TCCACTCCGC TGTCGCCCAC CCGCATCACC CGGCTGCAGG AGAAGGAGGA 101
102 CCTGCAGGAG CTCAATGATC GCTTGGCGGT CTACATCGAC CGTGTGCGCT 151
152 CGCTGGAAAC GGAGAACGCA GGGCTGCGCC TTCGCATCAC CGAGTCTGAA 201
202 GAGGTGGTCA GCCGCGAGGT GTCCGGCATC AAGGCCGCCT ACGAGGCCGA 251
252 GCTCGGGGAT GCCCGCAAGA CCCTTGACTC AGTAGCCAAG GAGCGCGCCC 301
302 GCCTGCAGCT GGAGCTGAGC AAAGTGCGTG AGGAGTTTAA GGAGCTGAAA 351
352 GCGCGCAATA CCAAGAAGGA GGGTGACCTG ATAGCTGCTC AGGCTCGGCT 401
402 GAAGGACCTG GAGGCTCTGC TGAACTCCAA GGAGGCCGCA CTGAGCACTG 451
452 CTCTCAGTGA GAAGCGCACG CTGGAGGGCG AGCTGCATGA TCTGCGGGGC 501
502 CAGGTGGCCA AGCTTGAGGC AGCCCTAGGT GAGGCCAAGA AGCAACTTCA 551
552 GGATGAGATG CTGCGGCGGG TGGATGCTGA GAACAGGCTG CAGACCATGA 601
602 AGGAGGAACT GGACTTCCAG AAGAACATCT ACAGTGAGGA GCTGCGTGAG 651
652 ACCAAGCGCC GTCATGAGAC CCGACTGGTG GAGATTGACA ATGGGAAGCA 701
702 GCGTGAGTTT GAGAGCCGGC TGGCGGATGC GCTGCAGGAA CTGCGGGCCC 751
752 AGCATGAGGA CCAGGTGGAG CAGTATAAGA AGGAGCTGGA GAAGACTTAT 801
802 TCTGCCAAGC TGGACAATGC CAGGCAGTCT GCTGAGAGGA ACAGCAACCT 851
852 GGTGGGGGCT GCCCACGAGG AGCTGCAGCA GTCGCGCATC CGCATCGACA 901
902 GCCTCTCTGC CCAGCTCAGC CAGCTCCAGA AGCAGCTGGC AGCCAAGGAG 951
952 GCGAAGCTTC GAGACCTGGA GGACTCACTG GCCCGTGAGC GGGACACCAG 1001
1002 CCGGCGGCTG CTGGCGGAAA AGGAGCGGGA GATGGCCGAG ATGCGGGCAA 1051
1052 GGATGCAGCA GCAGCTGGAC GAGTACCAGG AGCTTCTGGA CATCAAGCTG 1101
1102 GCCCTGGACA TGGAGATCCA CGCCTACCGC AAGCTCTTGG AGGGCGAGGA 1151
1152 GGAGAGGCTA CGCCTGTCCC CCAGCCCTAC CTCGCAGCGC AGCCGTGGCC 1201
1202 GTGCTTCCTC TCACTCATCC CAGACACAGG GTGGGGGCAG CGTCACCAAA 1251
1252 AAGCGCAAAC TGGAGTCCAC TGAGAGCCGC AGCAGCTTCT CACAGCACGC 1301
1302 ACGCACTAGC GGGCGCGTGG CCGTGGAGGA GGTGGATGAG GAGGGCAAGT 1351
1352 TTGTCCGGCT GCGCAACAAG TCCAATGAGG ACCAGTCCAT GGGCAATTGG 1401
1402 CAGATCAAGC GCCAGAATGG AGATGATCCC TTGCTGACTT ACCGGTTCCC 1451
1452 ACCAAAGTTC ACCCTGAAGG CTGGGCAGGT GGTGACGATC TGGGCTGCAG 1501
1502 GAGCTGGGGC CACCCACAGC CCCCCTACCG ACCTGGTGTG GAAGGCACAG 1551
1552 AACACCTGGG GCTGCGGGAA CAGCCTGCGT ACGGCTCTCA TCAACTCCAC 1601
1602 TGGGGAAGAA GTGGCCATGC GCAAGCTGGT GCGCTCAGTG ACTGTGGTTG 1651
1652 AGGACGACGA GGATGAGGAT GGAGATGACC TGCTCCATCA CCACCACGGC 1701
1702 TCCCACTGCA GCAGCTCGGG GGACCCCGCT GAGTACAACC TGCGCTCGCG 1751
1752 CACCGTGCTG TGCGGGACCT GCGGGCAGCC TGCCGACAAG GCATCTGCCA 1801
1802 GCGGCTCAGG AGCCCAGGTG GGCGGACCCA TCTCCTCTGG CTCTTCTGCC 1851
1852 TCCAGTGTCA CGGTCACTCG CAGCTACCGC AGTGTGGGGG GCAGTGGGGG 1901
1902 TGGCAGCTTC GGGGACAATC TGGTCACCCG CTCCTACCTC CTGGGCAACT 1951
1952 CCAGCCCCCG AACCCAGAGC CCCCAGAACT GCAGCATCAT GTAATCTGGG *6
*7 ACCTGCCAGG CAGGGGTGGG GGTGGAGGCT TCCTGCGTCC TCCTCACCTC *56
*57 ATGCCCACCC CCTGCCCTGC ACGTCATGGG AGGGGGCTTG AAGCCAAAGA *106
*107 AAAATAACCC TTTGGTTTTT TTCTTCTGTA TTTTTTTTTC TAAGAGAAGT *156
*157 TATTTTCTAC AGTGGTTTTA TACTGAAGGA AAAACACAAG CAAAAAAAAA *206
*207 AAAAAGCATC TATCTCATCT ATCTCAATCC TAATTTCTCC TCCCTTCCTT *256
*257 TTCCCTGCTT CCAGGAAACT CCACATCTGC CTTAAAACCA AAGAGGGCTT *306
*307 CCTCTAGAAG CCAAGGGAAA GGGGTGCTTT TATAGAGGCT AGCTTCTGCT *356
*357 TTTCTGCCCT GGCTGCTGCC CCCACCCCGG GGACCCTGTG ACATGGTGCC *406
*407 TGAGAGGCAG GCATAGAGGC TTCTCCGCCA GCCTCCTCTG GACGGCAGGC *456
*457 TCACTGCCAG GCCAGCCTCC GAGAGGGAGA GAGAGAGAGA GAGGACAGCT *506
*507 TGAGCCGGGC CCCTGGGCTT GGCCTGCTGT GATTCCACTA CACCTGGCTG *556
*557 AGGTTCCTCT GCCTGCCCCG CCCCCAGTCC CCACCCCTGC CCCCAGCCCC *606
*607 GGGGTGAGTC CATTCTCCCA GGTACCAGCT GCGCTTGCTT TTCTGTATTT *656
*657 TATTTAGACA AGAGATGGGA ATGAGGTGGG AGGTGGAAGA AGGGAGAAGA *706
*707 AAGGTGAGTT TGAGCTGCCT TCCCTAGCTT TAGACCCTGG GTGGGCTCTG *756
*757 TGCAGTCACT GGAGGTTGAA GCCAAGTGGG GTGCTGGGAG GAGGGAGAGG *806
*807 GAGGTCACTG GAAAGGGGAG AGCCTGCTGG CACCCACCGT GGAGGAGGAA *856
*857 GGCAAGAGGG GGTGGAGGGG TGTGGCAGTG GTTTTGGCAA ACGCTAAAGA *906
*907 GCCCTTGCCT CCCCATTTCC CATCTGCACC CCTTCTCTCC TCCCCAAATC *956
*957 AATACACTAG TTGTTTCTAC CCCTGAAAAA AAAAAAAAAA AAA
|
|---|
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| PROTEIN SEQUENCE AND DOMAIN INFORMATION |
|---|
Reference sequence last updated on 2009-07-21 17:08:58 | RefSeq ID | NP_733821.1 |
|---|
| GI | 27436946 |
|---|
| Isoelectric Point | 7.0079 |
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| Molecular Weight | 74139.3 Daltons |
|---|
| Length | 664 amino acids |
|---|
| Download | File | Text |
|---|
| Sequence | 1 METPSQRRAT RSGAQASSTP LSPTRITRLQ EKEDLQELND RLAVYIDRVR 50
51 SLETENAGLR LRITESEEVV SREVSGIKAA YEAELGDARK TLDSVAKERA 100
101 RLQLELSKVR EEFKELKARN TKKEGDLIAA QARLKDLEAL LNSKEAALST 150
151 ALSEKRTLEG ELHDLRGQVA KLEAALGEAK KQLQDEMLRR VDAENRLQTM 200
201 KEELDFQKNI YSEELRETKR RHETRLVEID NGKQREFESR LADALQELRA 250
251 QHEDQVEQYK KELEKTYSAK LDNARQSAER NSNLVGAAHE ELQQSRIRID 300
301 SLSAQLSQLQ KQLAAKEAKL RDLEDSLARE RDTSRRLLAE KEREMAEMRA 350
351 RMQQQLDEYQ ELLDIKLALD MEIHAYRKLL EGEEERLRLS PSPTSQRSRG 400
401 RASSHSSQTQ GGGSVTKKRK LESTESRSSF SQHARTSGRV AVEEVDEEGK 450
451 FVRLRNKSNE DQSMGNWQIK RQNGDDPLLT YRFPPKFTLK AGQVVTIWAA 500
501 GAGATHSPPT DLVWKAQNTW GCGNSLRTAL INSTGEEVAM RKLVRSVTVV 550
551 EDDEDEDGDD LLHHHHGSHC SSSGDPAEYN LRSRTVLCGT CGQPADKASA 600
601 SGSGAQVGGP ISSGSSASSV TVTRSYRSVG GSGGGSFGDN LVTRSYLLGN 650
651 SSPRTQSPQN CSIM |
|---|
| Domain Name | Probable Starting Amino Acid Position | Probable Ending Amino Acid Position |
|---|
| Head | 1 | 31 | | 1A | 32 | 72 | | 1B | 73 | 220 | | L12 | 221 | 239 | | 2A | 240 | 258 | | L2 | 259 | 266 | | 2B | 267 | 387 | | Tail | 388 | 664 |
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| MONOCLONAL ANTIBODIES |
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Information last updated on 2008-08-25 17:22:36 | Clone Name | Species | Reported Specificity | Epitope | Reference |
|---|
| 131C3 | mouse | lamin A, lamin C1, lamin C2 | between 2B and tail domains
| Pugh et al, 1997 | | 133A2 | mouse | lamin A | within C-terminal of tail domain
| McKeon et al, 1986 | | 1E4 | mouse | lamin A, lamin C1, lamin C2 | within the N-terminal of lamin A or C
| Loewinger and McKeon, 1988 | | 41CC4 | mouse | lamin A, lamin C1, lamin C2 | - | Machiels et al, 1997, Burke et al, 1983 | | BU31 | mouse | lamin A, lamin C1, lamin C2 | - | Rowlands et al, 1994, Coates et al, 1996 | | E-6 | rabbit | lamin A, lamin B2 | - | Lehner et al, 1986 | | JoL1 | mouse | lamin A, lamin C1, lamin C2 | within tail domain
| Dyer et al, 1997 | | JoL2 | mouse | lamin A, lamin C1, lamin C2 | within tail domain
| Dyer et al, 1997 | | JoL3 | mouse | lamin A, lamin C1, lamin C2 | within tail domain
| Dyer et al, 1997 | | JoL4 | mouse | lamin A | within tail domain
| Dyer et al, 1997 | | JoL5 | mouse | lamin A, lamin C1, lamin C2 | between head and 1B domains
| Dyer et al, 1997 | | L3-4B4 | mouse | lamin A | - | Stick et al, 1988 | | L6-8A7 | mouse | lamin A, lamin C1, lamin C2 | between 1B and 2B domains
| Stick and Hausen, 1985, Dyer et al, 1997 | | NZ1.D6 | mouse | lamin A, lamin C1, lamin C2 | - | Bridger et al, 1993 | | O-1 | mouse | lamin A | - | Lehner et al, 1986 | | O-2 | rabbit | lamin A, lamin B2 | - | Lehner et al, 1986 | | R27 | mouse | lamin A, lamin C1, lamin C2 | - | - | | XB10 | mouse | lamin A, lamin C1, lamin C2 | - | - |
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| PROTEIN STRUCTURES |
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Information last updated on 2007-08-17 13:28:32 Back to top |
| RELATED SEQUENCES AND MULTIPLE SEQUENCE ALIGNMENT |
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The following table shows the orthologous sequences in other organisms as indicated by NCBI HomoloGene ID 41321. Information last updated on 2007-08-17 12:29:26 Vertebrate ClustalW multiple sequence alignments Multiple sequence alignments were created using ClustalW for vertebrate sequences and the results available for viewing, download and visualization. Please use the analysis tools to include other sequences. | Type of ClustalW alignment | Download in FASTA format | View file in FASTA format |
|---|
| Nucleotide | file | view | | Protein | file | view |
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| SEQUENCE VARIANTS |
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|
Note that a single record in the following table may represent multiple people with that particular variant who are in the same family.
Click here to download an Excel spreadsheet of this data.
Click here to open table in a new window (for ease of viewing and printing).
Information last updated on 2009-11-23 15:57:47
* variant associated with disease as a risk factor rather than a causal factor. Note: Sequences are numbered according to latest reference sequence information. Discrepancies may exist with some publications.
| ID | DNA Sequence Variant | DNA Sequence Variant Type | Protein Sequence Variant | Protein Sequence Variant Type | Domain | Associated Disease | Reference |
|---|
| 9205 | c.? | Unknown | p.Glu33Asp | Substitution | 1A | Axonal neuropathy, muscular dystrophy, cardiac disease | Vital et al, 2005 | | 11788 | c.? | Unknown | p.Tyr481X | Substitution | Tail | DCM-CD | Bilińska et al, 2006 | | 12387 | c.? | Unknown | p.? | Unknown | Unknown | FPLD2 | Hegele et al, 2007 | | 12418 | c.? | Unknown | p.? | Unknown | Unknown | FPLD2 | Hegele et al, 2007 | | 12423 | c.? | Unknown | p.Arg482Gln | Substitution | Tail | FPLD2 | Moreau et al, 2007 | | 13061 | c.? | Unknown | p.= | Silent | Not affected | Metabolic syndrome | Decaudain et al, 2007 | | 13171 | c.? | Unknown | p.Lys260Asn | Substitution | L2 | CMD1A | Pasotti et al, 2008 | | 13533 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | - | HGPS | Paradisi et al, 2005 | | 13545 | c.139G>C | Substitution | p.Asp47His | Substitution | - | EDMD2 | Rudenskaya et al, 2008 | | 13547 | c.694G>C | Substitution | p.Gly232Arg | Substitution | - | EDMD2 | Rudenskaya et al, 2008 | | 13552 | c.746G>A | Substitution | p.Arg249Gln | Substitution | - | EDMD2 | Rudenskaya et al, 2008 | | 13555 | c.746G>A | Substitution | p.Arg249Gln | Substitution | - | LGMD1B | Rudenskaya et al, 2008 | | 13557 | c.1130G>A | Substitution | p.Arg377His | Substitution | - | LGMD1B | Rudenskaya et al, 2008 | | 13559 | c.1622G>A | Substitution | p.Arg541His | Substitution | - | CMD1A | Rudenskaya et al, 2008 | | 13561 | c.1048G>C | Substitution | p.Ala350Pro | Substitution | - | CMD1A | Rudenskaya et al, 2008 | | 13563 | c.155T>C | Substitution | p.Leu52Pro | Substitution | - | CMD1A | Rudenskaya et al, 2008 | | 13565 | c.1904G>A | Substitution | p.Gly635Asp | Substitution | - | CMD1A | Rudenskaya et al, 2008 | | 13570 | c.1930C>T | Substitution | p.Arg644Cys | Substitution | - | EDMD2 | Rankin et al, 2008 | | 13571 | c.1930C>T | Substitution | p.Arg644Cys | Substitution | - | EDMD2 | Rankin et al, 2008 | | 13572 | c.1930C>T | Substitution | p.Arg644Cys | Substitution | - | EDMD2 | Rankin et al, 2008 | | 13573 | c.1930C>T | Substitution | p.Arg644Cys | Substitution | - | EDMD2 | Rankin et al, 2008 | | 13575 | c.1930C>T | Substitution | p.Arg644Cys | Substitution | - | FPLD2 | Rankin et al, 2008 | | 13576 | c.1930C>T | Substitution | p.Arg644Cys | Substitution | - | FPLD2 | Rankin et al, 2008 | | 13579 | c.1930C>T | Substitution | p.Arg644Cys | Substitution | - | FPLD2 | Rankin et al, 2008 | | 13581 | c.1930C>T | Substitution | p.Arg644Cys | Substitution | - | Distal motor neuropathy | Rankin et al, 2008 | | 13584 | - | - | - | - | - | - | - | | 13588 | c.1633C>T | Substitution | p.Arg545Cys | Substitution | - | EDMD2 | Kandert et al, 2009 | | 13590 | c.1357C>T | Substitution | p.Arg453Trp | Substitution | - | EDMD2 | Kandert et al, 2009 | | 13592 | c.1621C>T | Substitution | p.Arg541Cys | Substitution | - | CMD1A | Forissier et al, 2005 | | 13594 | c.98A>G | Substitution | p.Glu33Gly | Substitution | - | EDMD2 | Smith et al, 2006 | | 13596 | c.265C>T | Substitution | p.Arg89Cys | Substitution | - | EDMD2 | Smith et al, 2006 | | 13598 | c.1072G>A | Substitution | p.Glu358Lys | Substitution | - | EDMD2 | Smith et al, 2006 | | 13603 | c.1072G>A | Substitution | p.Glu358Lys | Substitution | - | EDMD2 | Smith et al, 2006 | | 13605 | c.136A>G | Substitution | p.Ile46Val | Substitution | - | EDMD2 | Smith et al, 2006 | | 13607 | c.1357C>T | Substitution | p.Arg453Trp | Substitution | - | EDMD2 | Smith et al, 2006 | | 13609 | c.1357C>T | Substitution | p.Arg453Trp | Substitution | - | EDMD2 | Smith et al, 2006 | | 13611 | c.1357C>T | Substitution | p.Arg453Trp | Substitution | - | EDMD2 | Smith et al, 2006 | | 13613 | c.274C>T | Substitution | p.Leu92Phe | Substitution | - | CMD1A | Millat et al, 2009 | | 13617 | c.481G>A | Substitution | p.Glu161Lys | Substitution | - | CMD1A | Millat et al, 2009 | | 13621 | c.949G>A | Substitution | p.Glu317Lys | Substitution | - | CMD1A | Millat et al, 2009 | | 13623 | c.1130G>A | Substitution | p.Arg377His | Substitution | - | CMD1A | Millat et al, 2009 | | 13625 | c.1567G>A | Substitution | p.Gly523Arg | Substitution | - | CMD1A | Millat et al, 2009 | | 13651 | c.1579C>T | Substitution | p.Arg527Cys | Substitution | - | HGPS | Liang et al, 2009 | | 13653 | c.1157G>T | Substitution | p.Arg386Met | Substitution | - | EDMD2 | Lassuthová et al, 2009 | | 14007 | c.673C>T | Substitution | p.Arg225X | Substitution | - | Cardiomyopathy with advanced AV block and arrhythmia | Saga et al, 2009 | | 14015 | c.775T>C | Substitution | p.Tyr259His | Substitution | - | Cardiomyopathy with advanced AV block and arrhythmia | Saga et al, 2009 | | 14011 | c.815_818delACAAinsCCAGAC | Indel | p.Asp272AlafsX208 | Frame shift | - | Cardiomyopathy with advanced AV block and arrhythmia | Saga et al, 2009 | | 14012 | c.815_818delACAAinsCCAGAC | Indel | p.Asp272AlafsX208 | Frame shift | - | Cardiomyopathy with advanced AV block and arrhythmia | Saga et al, 2009 | | 14016 | c.775T>C | Substitution | p.Tyr259His | Substitution | - | Cardiomyopathy with advanced AV block and arrhythmia | Saga et al, 2009 | | 14018 | c.497G>C | Substitution | p.Arg166Pro | Substitution | - | Cardiomyopathy with advanced AV block and arrhythmia | Saga et al, 2009 | | 14066 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | - | FPLD2 | Keller et al, 2009 | | 14030 | c.266G>T | Substitution | p.Arg89Leu | Substitution | - | CMD1A | Taylor et al, 2004 | | 14032 | c.959delT | Deletion | p.Leu320fsX160 | Frame shift | - | CMD1A | Taylor et al, 2004 | | 14034 | c.1130G>A | Substitution | p.Arg377His | Substitution | - | CMD1A | Taylor et al, 2004 | | 14038 | c.1718C>T | Substitution | p.Ser573Leu | Substitution | - | CMD1A | Taylor et al, 2004 | | 14072 | c.1063C>T | Substitution | p.Gln355X | Substitution | - | CMD1A | Møller et al, 2009 | | 14075 | c.992G>A | Substitution | p.Arg331Gln | Substitution | - | CMD1A | Møller et al, 2009 | | 14077 | c.961C>T | Substitution | p.Arg321X | Substitution | - | CMD1A | Møller et al, 2009 | | 14080 | c.1930C>T | Substitution | p.Arg644Cys | Substitution | - | CMD1A | Møller et al, 2009 | | 14082 | c.1294C>T | Substitution | p.Gln432X | Substitution | - | CMD1A | Møller et al, 2009 | | 14084 | c.1294C>T | Substitution | p.Gln432X | Substitution | - | CMD1A | Møller et al, 2009 | | 14085 | c.1294C>T | Substitution | p.Gln432X | Substitution | - | CMD1A | Møller et al, 2009 | | 14086 | c.1294C>T | Substitution | p.Gln432X | Substitution | - | CMD1A | Møller et al, 2009 | | 14088 | c.1318G>A | Substitution | p.Val440Met | Substitution | - | CMD1A | Møller et al, 2009 | | 14090 | c.1318G>A | Substitution | p.Val440Met | Substitution | - | CMD1A | Møller et al, 2009 | | 14091 | c.1318G>A | Substitution | p.Val440Met | Substitution | - | CMD1A | Møller et al, 2009 | | 14093 | c.961C>T | Substitution | p.Arg321X | Substitution | - | CMD1A | Møller et al, 2009 | | 14095 | c.406G>C | Substitution | p.Asp136His | Substitution | - | HGPS | Garg et al, 2009 | | 14097 | c.11C>G | Substitution | p.Pro4Arg | Substitution | - | HGPS | Garg et al, 2009 | | 14099 | c.1762T>C | Substitution | p.Cys588Arg | Substitution | - | HGPS | Garg et al, 2009 | | 14101 | c.331G>T | Substitution | p.Glu111Lys | Substitution | - | HGPS | Garg et al, 2009 | | 14104 | c.1762T>C | Substitution | p.Cys588Arg | Substitution | - | HGPS | Garg et al, 2009 | | 14106 | c.475G>A | Substitution | p.Glu159Lys | Substitution | - | HGPS | Garg et al, 2009 | | 14108 | c.29C>T | Substitution | p.Thr10Ile | Substitution | - | HGPS | Garg et al, 2009 | | 14110 | c.29C>T | Substitution | p.Thr10Ile | Substitution | - | HGPS | Garg et al, 2009 | | 14112 | c.11C>G | Substitution | p.Pro4Arg | Substitution | - | HGPS | Garg et al, 2009 | | 14114 | c.1303C>T | Substitution | p.Arg435Cys | Substitution | - | HGPS | Madej-Pilarczyk et al, 2009 | | 11652 | c.-3_12del15 | Deletion | p.Met1_Pro4del | Deletion | Head | CMT2, EDMD2 | Walter et al, 2005 | | 8743 | c.16C>T | Substitution | p.Gln6X | Substitution | Head | EDMD2 | Bonne et al, 1999 | | 8796 | c.16C>T | Substitution | p.Gln6X | Substitution | Head | EDMD2 | Bonne et al, 2000 | | 8832 | c.16C>T | Substitution | p.Gln6X | Substitution | Head | CMD1A | Bécane et al, 2000 | | 9397 | c.28_29insA | Insertion | p.Thr10AsnfsX31 | Frame shift | Head | CMD1A | Sébillon et al, 2003 | | 9172 | c.29C>T | Substitution | p.Thr10Ile | Substitution | Head | HGPS | Csoka et al, 2004 | | 13490 | c.29C>T | Substitution | p.Thr10Ile | Substitution | Head | Generalized lipoatrophy syndrome | Mory et al, 2008 | | 11627 | c.31delC | Deletion | p.Arg11AlafsX85 | Frame shift | Head | CMD1A | Verga et al, 2003 | | 11746 | c.31delC | Deletion | p.Arg11AlafsX85 | Frame shift | Head | EDMD2 | Benedetti et al, 2007 | | 9262 | c.73C>G | Substitution | p.Arg25Gly | Substitution | Head | EDMD2 | Vytopil et al, 2003 | | 12408 | c.73C>T | Substitution | p.Arg25Cys | Substitution | Head | Muscular dystrophy | van Tintelen et al, 2007 | | 9376 | c.74G>C | Substitution | p.Arg25Pro | Substitution | Head | EDMD2 | Brown et al, 2001 | | 8847 | c.82C>T | Substitution | p.Arg28Trp | Substitution | Head | FPLD2 | Garg et al, 2002 | | 13054 | c.82C>T | Substitution | p.Arg28Trp | Substitution | Head | Metabolic syndrome | Decaudain et al, 2007 | | 13155 | c.82C>T | Substitution | p.Arg28Trp | Substitution | Head | CMD1A | Pasotti et al, 2008 | | 9177 | c.94_96delAAG | Deletion | p.Lys32del | Deletion | 1A | EDMD2 | Vytopil et al, 2002 | | 8998 | c.94_96delAAG | Deletion | p.Lys32del | Deletion | 1A | EDMD2 | Vytopil et al, 2003 | | 9014 | c.94_96delAAG | Deletion | p.Lys32del | Deletion | 1A | EDMD2 | Muchir et al, 2004 | | 9020 | c.94_96delAAG | Deletion | p.Lys32del | Deletion | 1A | Dropped head syndrome | D'Amico et al, 2005 | | 8994 | c.99G>T | Substitution | p.Glu33Asp | Substitution | 1A | Axonal neuropathy, muscular dystrophy, cardiac disease, leuconychia | Goizet et al, 2004 | | 11747 | c.99G>C | Substitution | p.Glu33Asp | Substitution | 1A | EDMD2 | Benedetti et al, 2007 | | 8999 | c.103C>G | Substitution | p.Leu35Val | Substitution | 1A | EDMD2 | Vytopil et al, 2003 | | 13486 | c.106C>T | Substitution | p.Gln36X | Substitution | 1A | DCM-CD | Arbustini et al, 2009 | | 11748 | c.116A>G | Substitution | p.Asn39Ser | Substitution | 1A | EDMD2 | Benedetti et al, 2007 | | 13476 | c.116A>G | Substitution | p.Asn39Ser | Substitution | 1A | Dropped head syndrome | Quijano-Roy et al, 2008 | | 9377 | c.127G>A | Substitution | p.Ala43Thr | Substitution | 1A | EDMD2 | Brown et al, 2001 | | 8797 | c.134A>G | Substitution | p.Tyr45Cys | Substitution | 1A | EDMD2 | Bonne et al, 2000 | | 9378 | c.148C>A | Substitution | p.Arg50Ser | Substitution | 1A | EDMD2 | Brown et al, 2001 | | 8798 | c.149G>C | Substitution | p.Arg50Pro | Substitution | 1A | EDMD2 | Bonne et al, 2000 | | 13466 | c.149G>C | Substitution | p.Arg50Pro | Substitution | 1A | Dropped head syndrome | Quijano-Roy et al, 2008 | | 11792 | c.158A>T | Substitution | p.Glu53Val | Substitution | 1A | DCM-CD | Song et al, 2007 | | 8885 | c.169G>C | Substitution | p.Ala57Pro | Substitution | 1A | WRN | Chen et al, 2003 | | 11783 | c.176T>G | Substitution | p.Leu59Arg | Substitution | 1A | MADA | Nguyen et al, 2007 | | 13379 | c.176T>G | Substitution | p.Leu59Arg | Substitution | 1A | CMD1A | McPherson et al, 2009 | | 13378 | c.176T>G | Substitution | p.Leu59Arg | Substitution | 1A | CMD1A | McPherson et al, 2009 | | 8748 | c.178C>G | Substitution | p.Arg60Gly | Substitution | 1A | CMD1A | Fatkin et al, 1999 | | 8861 | c.178C>G | Substitution | p.Arg60Gly | Substitution | 1A | FPLD2 | van der Kooi et al, 2002 | | 8848 | c.184C>G | Substitution | p.Arg62Gly | Substitution | 1A | FPLD2 | Garg et al, 2002 | | 8799 | c.188T>G | Substitution | p.Ile63Ser | Substitution | 1A | EDMD2 | Bonne et al, 2000 | | 9175 | c.188T>A | Substitution | p.Ile63Asn | Substitution | 1A | EDMD2 | Vytopil et al, 2002 | | 11633 | c.188T>A | Substitution | p.Ile63Asn | Substitution | 1A | EDMD2 | Boriani et al, 2003 | | 13192 | c.203_208delAGGTGG | Deletion | p.Glu68_Val69del | Deletion | 1A | EDMD2, CMD1A | Pasotti et al, 2008 | | 9163 | c.244G>A | Substitution | p.Glu82Lys | Substitution | 1B | CMD1A | Wang et al, 2006 | | 8749 | c.254T>G | Substitution | p.Leu85Arg | Substitution | 1B | CMD1A | Fatkin et al, 1999 | | 12477 | c.265C>T | Substitution | p.Arg89Cys | Substitution | 1B | EDMD2 | Sewry et al, 2001 | | 8865 | c.266G>T | Substitution | p.Arg89Leu | Substitution | 1B | CMD1A | Taylor et al, 2003 | | 11618 | c.266G>T | Substitution | p.Arg89Leu | Substitution | 1B | CMD1A | Verga et al, 2003 | | 13080 | c.266G>T | Substitution | p.Arg89Leu | Substitution | 1B | CMD1A | Parks et al, 2008 | | 13157 | c.266G>T | Substitution | p.Arg89Leu | Substitution | 1B | CMD1A | Pasotti et al, 2008 | | 13056 | c.274C>T | Substitution | p.Leu92Phe | Substitution | 1B | Metabolic syndrome | Decaudain et al, 2007 | | 8844 | c.289A>G | Substitution | p.Lys97Glu | Substitution | 1B | CMD1A | Arbustini et al, 2002 | | 11620 | c.289A>G | Substitution | p.Lys97Glu | Substitution | 1B | CMD1A | Verga et al, 2003 | | 13159 | c.289A>G | Substitution | p.Lys97Glu | Substitution | 1B | CMD1A | Pasotti et al, 2008 | | 13082 | c.302G>C | Substitution | p.Arg101Pro | Substitution | 1B | CMD1A | Parks et al, 2008 | | 8843 | c.331G>T | Substitution | p.Glu111X | Substitution | 1B | CMD1A | Arbustini et al, 2002 | | 11619 | c.331G>T | Substitution | p.Glu111X | Substitution | 1B | CMD1A | Verga et al, 2003 | | 13199 | c.331G>T | Substitution | p.Glu111X | Substitution | 1B | CMD1A | Pasotti et al, 2008 | | 9410 | c.334_336delGAG | Deletion | p.Glu112del | Deletion | 1B | EDMD2 | Bonne et al, 2000 | | 9000 | c.334_336delGAG | Deletion | p.Glu112del | Deletion | 1B | EDMD2 | Vytopil et al, 2003 | | 13089 | c.357-1G>T | Substitution | p.? | Unknown | Unknown | CMD1A | Parks et al, 2008 | | 13505 | c.373G>A | Substitution | p.Gly125Ser | Substitution | 1B | LAF | Brauch et al, 2009 | | 13509 | c.[373G>A; =]+[=; 1243G>A] | Substitution | p.[Gly125Ser; =]+[=; Val415Ile] | Substitution | 1B, Tail | LAF | Brauch et al, 2009 | | 9148 | c.394G>C | Substitution | p.Ala132Pro | Substitution | 1B | CMD1A | Kärkkäinen et al, 2006 | | 9379 | c.398G>C | Substitution | p.Arg133Pro | Substitution | 1B | EDMD2 | Brown et al, 2001 | | 8867 | c.398G>T | Substitution | p.Arg133Leu | Substitution | 1B | Generalized lipoatrophy syndrome | Caux et al, 2003 | | 8886 | c.398G>T | Substitution | p.Arg133Leu | Substitution | 1B | WRN | Chen et al, 2003 | | 11462 | c.398G>T | Substitution | p.Arg133Leu | Substitution | 1B | WRN | Chen et al, 2003 | | 9232 | c.398G>T | Substitution | p.Arg133Leu | Substitution | 1B | WRN | Jacob et al, 2005 | | 11509 | c.398G>T | Substitution | p.Arg133Leu | Substitution | 1B | WRN | Jacob et al, 2005 | | 11670 | c.398G>T | Substitution | p.Arg133Leu | Substitution | 1B | WRN | Vigouroux et al, 2003 | | 12100 | c.398G>T | Substitution | p.Arg133Leu | Substitution | 1B | FPLD2 | Vantyghem et al, 2007 | | 8888 | c.419T>G | Substitution | p.Leu140Arg | Substitution | 1B | WRN | Chen et al, 2003 | | 11632 | c.419T>C | Substitution | p.Leu140Pro | Substitution | 1B | EDMD2 | Boriani et al, 2003 | | 9297 | c.425_426ins21 | Insertion | p.Leu141_Asn142ins7 | Insertion | 1B | CMD1A | Perrot et al, 2006 | | 9010 | c.427T>C | Substitution | p.Ser143Pro | Substitution | 1B | CMD1A | Kärkkäinen et al, 2004 | | 11473 | c.427T>C | Substitution | p.Ser143Pro | Substitution | 1B | CMD1A | Kärkkäinen et al, 2004 | | 11474 | c.427T>C | Substitution | p.Ser143Pro | Substitution | 1B | CMD1A | Kärkkäinen et al, 2004 | | 11475 | c.427T>C | Substitution | p.Ser143Pro | Substitution | 1B | CMD1A | Kärkkäinen et al, 2004 | | 11476 | c.427T>C | Substitution | p.Ser143Pro | Substitution | 1B | CMD1A | Kärkkäinen et al, 2004 | | 11477 | c.427T>C | Substitution | p.Ser143Pro | Substitution | 1B | CMD1A | Kärkkäinen et al, 2004 | | 9150 | c.427T>C | Substitution | p.Ser143Pro | Substitution | 1B | CMD1A | Kärkkäinen et al, 2006 | | 9015 | c.428C>T | Substitution | p.Ser143Phe | Substitution | 1B | EDMD2 | Kirschner et al, 2005 | | 9016 | c.428C>T | Substitution | p.Ser143Phe | Substitution | 1B | HGPS | Kirschner et al, 2005 | | 12609 | c.428C>T | Substitution | p.Ser143Phe | Substitution | 1B | EDMD2, HGPS | Madej-Pilarczyk et al, 2008 | | 8871 | c.433G>A | Substitution | p.Glu145Lys | Substitution | 1B | HGPS | Eriksson et al, 2003 | | 8795 | c.448A>C | Substitution | p.Thr150Pro | Substitution | 1B | EDMD2 | Felice et al, 2000 | | 8879 | c.481G>A | Substitution | p.Glu161Lys | Substitution | 1B | CMD1A | Sébillon et al, 2003 | | 11791 | c.481G>A | Substitution | p.Glu161Lys | Substitution | 1B | DCM-CD | Song et al, 2007 | | 13161 | c.481G>A | Substitution | p.Glu161Lys | Substitution | 1B | CMD1A | Pasotti et al, 2008 | | 13162 | c.481G>A | Substitution | p.Glu161Lys | Substitution | 1B | CMD1A | Pasotti et al, 2008 | | 13163 | c.481G>A | Substitution | p.Glu161Lys | Substitution | 1B | CMD1A | Pasotti et al, 2008 | | 13328 | c.481G>A | Substitution | p.Glu161Lys | Substitution | 1B | CMD1A | Perrot et al, 2009 | | 13453 | c.485T>C | Substitution | p.Leu162Pro | Substitution | 1B | EDMD2 | Kim et al, 2008 | | 13091 | c.497G>C | Substitution | p.Arg166Pro | Substitution | 1B | CMD1I | Parks et al, 2008 | | 13457 | c.506delT | Deletion | p.Val169GlyfsX7 | Frame shift | 1B | WRN | Doh et al, 2009 | | 9216 | c.513G>A | Substitution | p.= | Silent | Not affected | LGMD1B | Todorova et al, 2003 | | 13204 | c.514-1G>A | Substitution | p.? | Unknown | Unknown | DCM-CD | Pasotti et al, 2008 | | 13165 | c.548T>C | Substitution | p.Leu183Pro | Substitution | 1B | CMD1A | Pasotti et al, 2008 | | 11793 | c.556G>A | Substitution | p.Glu186Lys | Substitution | 1B | DCM-CD | Song et al, 2007 | | 8845 | c.568C>T | Substitution | p.Arg190Trp | Substitution | 1B | CMD1A | Arbustini et al, 2002 | | 9011 | c.568C>T | Substitution | p.Arg190Trp | Substitution | 1B | CMD1A | Hermida-Prieto et al, 2004 | | 11507 | c.568C>T | Substitution | p.Arg190Trp | Substitution | 1B | CMD1A | Sylvius et al, 2005 | | 9149 | c.568C>T | Substitution | p.Arg190Trp | Substitution | 1B | CMD1A | Kärkkäinen et al, 2006 | | 11621 | c.568C>T | Substitution | p.Arg190Trp | Substitution | 1B | CMD1A | Verga et al, 2003 | | 11782 | c.568C>T | Substitution | p.Arg190Trp | Substitution | 1B | CMD1A | Fernández et al, 2007 | | 11789 | c.568C>T | Substitution | p.Arg190Trp | Substitution | 1B | DCM-CD | Song et al, 2007 | | 11790 | c.568C>T | Substitution | p.Arg190Trp | Substitution | 1B | CMD1A | Song et al, 2007 | | 13167 | c.568C>T | Substitution | p.Arg190Trp | Substitution | 1B | CMD1A | Pasotti et al, 2008 | | 13093 | c.569G>A | Substitution | p.Arg190Gln | Substitution | 1B | CMD1I | Parks et al, 2008 | | 13330 | c.569G>A | Substitution | p.Arg190Gln | Substitution | 1B | CMD1A | Perrot et al, 2009 | | 9165 | c.575A>G | Substitution | p.Asp192Gly | Substitution | 1B | CMD1A | Sylvius et al, 2005 | | 11787 | c.575A>G | Substitution | p.Asp192Gly | Substitution | 1B | DCM-CD | Bilińska et al, 2006 | | 8750 | c.585C>G | Substitution | p.Asn195Lys | Substitution | 1B | CMD1A | Fatkin et al, 1999 | | 12393 | c.585C>A | Substitution | p.Asn195Lys | Substitution | 1B | CMD1A | van Tintelen et al, 2007 | | 9380 | c.588_596delGCTGCAGAC | Deletion | p.Arg196_Thr199delinsSer | Indel | 1B | EDMD2 | Brown et al, 2001 | | 11668 | c.607G>A | Substitution | p.Glu203Lys | Substitution | 1B | CMD1A | Jakobs et al, 2001 | | 8751 | c.608A>G | Substitution | p.Glu203Gly | Substitution | 1B | CMD1A | Fatkin et al, 1999 | | 13332 | c.608A>T | Substitution | p.Glu203Val | Substitution | 1B | CMD1A | Perrot et al, 2009 | | 9639 | c.622_624delAAG | Deletion | p.Lys208del | Deletion | 1B | LGMD1B | Muchir et al, 2000 | | 12403 | c.624_626delGAA | Deletion | p.Lys208del | Deletion | 1B | LGMD1B | van Tintelen et al, 2007 | | 12382 | c.625_625delA | Deletion | p.Asn209ThrfsX271 | Frame shift | 1B | EDMD2 | Maioli et al, 2007 | | 13095 | c.629T>G | Substitution | p.Ile210Ser | Substitution | 1B | CMD1A | Parks et al, 2008 | | 8901 | c.640-10A>G | Substitution | p.? | Unknown | Unknown | CMD1A | Otomo et al, 2005 | | 8864 | c.644T>C | Substitution | p.Leu215Pro | Substitution | 1B | CMD1A | Hershberger et al, 2002 | | 13169 | c.656A>C | Substitution | p.Lys219Thr | Substitution | 1B | CMD1A | Pasotti et al, 2008 | | 13335 | c.656A>C | Substitution | p.Lys219Thr | Substitution | 1B | CMD1A | Perrot et al, 2009 | | 9523 | c.664C>T | Substitution | p.His222Tyr | Substitution | L12 | EDMD3 | Raffaele Di Barletta et al, 2000 | | 8800 | c.665A>C | Substitution | p.His222Pro | Substitution | L12 | EDMD2 | Bonne et al, 2000 | | 11669 | c.673C>T | Substitution | p.Arg225X | Substitution | L12 | CMD1A | Jakobs et al, 2001 | | 12399 | c.673C>T | Substitution | p.Arg225X | Substitution | L12 | CCD | van Tintelen et al, 2007 | | 11775 | c.688G>A | Substitution | p.Asp230Asn | Substitution | L12 | FPLD2 | Lanktree et al, 2007 | | 8801 | c.695G>A | Substitution | p.Gly232Glu | Substitution | L12 | EDMD2 | Bonne et al, 2000 | | 12485 | c.695G>A | Substitution | p.Gly232Glu | Substitution | L12 | EDMD2 | Sewry et al, 2001 | | 13097 | c.700C>T | Substitution | p.Gln234X | Substitution | L12 | CMD1A | Parks et al, 2008 | | 13201 | c.736C>T | Substitution | p.Gln246X | Substitution | 2A | CMD1A | Pasotti et al, 2008 | | 9001 | c.743T>C | Substitution | p.Leu248Pro | Substitution | 2A | EDMD2 | Vytopil et al, 2003 | | 13462 | c.745C>T | Substitution | p.Arg249Trp | Substitution | 2A | CMD | Quijano-Roy et al, 2008 | | 13464 | c.745C>T | Substitution | p.Arg249Trp | Substitution | 2A | Dropped head syndrome | Quijano-Roy et al, 2008 | | 8783 | c.746G>A | Substitution | p.Arg249Gln | Substitution | 2A | EDMD2 | Raffaele Di Barletta et al, 2000 | | 11380 | c.746G>A | Substitution | p.Arg249Gln | Substitution | 2A | EDMD2 | Raffaele Di Barletta et al, 2000 | | 11381 | c.746G>A | Substitution | p.Arg249Gln | Substitution | 2A | EDMD2 | Raffaele Di Barletta et al, 2000 | | 8802 | c.746G>A | Substitution | p.Arg249Gln | Substitution | 2A | EDMD2 | Bonne et al, 2000 | | 9002 | c.746G>A | Substitution | p.Arg249Gln | Substitution | 2A | EDMD2 | Vytopil et al, 2003 | | 9023 | c.746G>A | Substitution | p.Arg249Gln | Substitution | 2A | EDMD2 | Hong et al, 2005 | | 11631 | c.746G>A | Substitution | p.Arg249Gln | Substitution | 2A | EDMD2 | Boriani et al, 2003 | | 11749 | c.746G>A | Substitution | p.Arg249Gln | Substitution | 2A | EDMD2 | Benedetti et al, 2007 | | 11750 | c.746G>A | Substitution | p.Arg249Gln | Substitution | 2A | EDMD2 | Benedetti et al, 2007 | | 11751 | c.775T>G | Substitution | p.Tyr259Asp | Substitution | L2 | EDMD2 | Benedetti et al, 2007 | | 9164 | c.777T>A | Substitution | p.Tyr259X | Substitution | L2 | LGMD1B | van Engelen et al, 2005 | | 12401 | c.777T>A | Substitution | p.Tyr259X | Substitution | L2 | LGMD1B | van Tintelen et al, 2007 | | 9640 | c.781_783delAAG | Deletion | p.Lys261del | Deletion | L2 | EDMD2 | Felice et al, 2000 | | 9411 | c.781_783delAAG | Deletion | p.Lys261del | Deletion | L2 | EDMD2 | Bonne et al, 2000 | | 9381 | c.781_783delAAG | Deletion | p.Lys261del | Deletion | L2 | EDMD2 | Brown et al, 2001 | | 13449 | c.799T>C | Substitution | p.Tyr267His | Substitution | 2B | CCD | Carboni et al, 2008 | | 9003 | c.800A>G | Substitution | p.Tyr267Cys | Substitution | 2B | EDMD2 | Vytopil et al, 2003 | | 11809 | c.800A>G | Substitution | p.Tyr267Cys | Substitution | 2B | EDMD2, CMD1A | Benedetti et al, 2007 | | 13173 | c.800A>G | Substitution | p.Tyr267Cys | Substitution | 2B | EDMD2, CMD1A | Pasotti et al, 2008 | | 13492 | c.810+63C>A | Substitution | p.? | Unknown | Unknown | LAF | Brauch et al, 2009 | | 11810 | c.855delG | Deletion | p.Ala287LeufsX191 | Frame shift | 2B | CMD1A, LGMD1B | Benedetti et al, 2007 | | 9021 | c.864_867delCCAC | Deletion | p.His289ArgfsX189 | Frame shift | 2B | LGMD1B | Benedetti et al, 2005 | | 11759 | c.864_867delCCAC | Deletion | p.His289ArgfsX188 | Frame shift | 2B | LGMD1B | Benedetti et al, 2007 | | 8803 | c.881A>C | Substitution | p.Gln294Pro | Substitution | 2B | EDMD2 | Bonne et al, 2000 | | 8840 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | De Sandre-Giovannoli et al, 2002 | | 11415 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | De Sandre-Giovannoli et al, 2002 | | 11416 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | De Sandre-Giovannoli et al, 2002 | | 8997 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Tazir et al, 2004 | | 11840 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Bouhouche et al, 2007 | | 11839 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Bouhouche et al, 2007 | | 11838 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Bouhouche et al, 2007 | | 11837 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Bouhouche et al, 2007 | | 12087 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Ben Yaou et al, 2007 | | 13414 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Hamadouche et al, 2008 | | 13415 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Hamadouche et al, 2008 | | 13416 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Hamadouche et al, 2008 | | 13417 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Hamadouche et al, 2008 | | 13418 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Hamadouche et al, 2008 | | 13419 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Hamadouche et al, 2008 | | 13420 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Hamadouche et al, 2008 | | 13421 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Hamadouche et al, 2008 | | 13422 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Hamadouche et al, 2008 | | 13423 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Hamadouche et al, 2008 | | 13424 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Hamadouche et al, 2008 | | 13425 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Hamadouche et al, 2008 | | 13426 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Hamadouche et al, 2008 | | 13427 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Hamadouche et al, 2008 | | 13428 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Hamadouche et al, 2008 | | 13429 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Hamadouche et al, 2008 | | 13430 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Hamadouche et al, 2008 | | 13431 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Hamadouche et al, 2008 | | 13432 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Hamadouche et al, 2008 | | 13433 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Hamadouche et al, 2008 | | 13434 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Hamadouche et al, 2008 | | 13435 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Hamadouche et al, 2008 | | 13436 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Hamadouche et al, 2008 | | 13437 | c.892C>T | Substitution | p.Arg298Cys | Substitution | 2B | CMT2B1 | Hamadouche et al, 2008 | | 13350 | c.898G>A | Substitution | p.Asp300Asn | Substitution | 2B | WRN | Renard et al, 2008 | | 13470 | c.905T>C | Substitution | p.Leu302Pro | Substitution | 2B | Dropped head syndrome | Quijano-Roy et al, 2008 | | 8863 | c.907T>C | Substitution | p.Ser303Pro | Substitution | 2B | EDMD2 | Onishi et al, 2002 | | 11613 | c.908_909delCT | Deletion | p.Ser303CysfsX26 | Frame shift | 2B | CMD1A | MacLeod et al, 2003 | | 12384 | c.908_909delCT | Deletion | p.Ser303CysfsX26 | Frame shift | 2B | CMD1A, LGMD1B | Antoniades et al, 2007 | | 13206 | c.936+1G>T | Substitution | p.? | Unknown | Unknown | CMD1A | Pasotti et al, 2008 | | 13495 | c.937-46A>G | Substitution | p.? | Unknown | Unknown | LAF | Brauch et al, 2009 | | 8846 | c.949G>A | Substitution | p.Glu317Lys | Substitution | 2B | CMD1A | Arbustini et al, 2002 | | 11617 | c.949G>A | Substitution | p.Glu317Lys | Substitution | 2B | CMD1A | Verga et al, 2003 | | 13175 | c.949G>A | Substitution | p.Glu317Lys | Substitution | 2B | CMD1A | Pasotti et al, 2008 | | 13176 | c.949G>A | Substitution | p.Glu317Lys | Substitution | 2B | CMD1A | Pasotti et al, 2008 | | 13100 | c.952G>A | Substitution | p.Ala318Thr | Substitution | 2B | CMD1A | Parks et al, 2008 | | 11700 | c.959delT | Deletion | p.Leu320fsX160 | Frame shift | 2B | CMD1A | Brodsky et al, 2000 | | 9409 | c.959delT | Deletion | p.Leu320fsX160 | Frame shift | 2B | CMD1A | Raffaele Di Barletta et al, 2000 | | 9391 | c.959delT | Deletion | p.Leu320fsX160 | Frame shift | 2B | CMD1A | Taylor et al, 2003 | | 12389 | c.961C>T | Substitution | p.Arg321X | Substitution | 2B | CMD1A | Zeller et al, 2006 | | 9155 | c.976T>A | Substitution | p.Ser326Thr | Substitution | 2B | CMD1A | Muntoni et al, 2006 | | 11760 | c.[992G>A; =]+[=; 1039G>A] | Substitution | p.[Arg331Glu; =]+[=; Glu347Lys] | Substitution | 2B | CMD1A | Benedetti et al, 2007 | | 11811 | c.992G>C | Substitution | p.Arg331Pro | Substitution | 2B | CMD1A, LGMD1B | Benedetti et al, 2007 | | 8786 | c.1007G>A | Substitution | p.Arg336Gln | Substitution | 2B | - | Raffaele Di Barletta et al, 2000 | | 12414 | c.1045C>T | Substitution | p.Arg349Trp | Substitution | 2B | Muscular dystrophy and lipodystrophy | van Tintelen et al, 2007 | | 9012 | c.1046G>T | Substitution | p.Arg349Leu | Substitution | 2B | CMD1A | Hermida-Prieto et al, 2004 | | 13078 | c.1069G>C | Substitution | p.Asp357His | Substitution | 2B | DCM-CD | Fujimori et al, 2008 | | 8804 | c.1072G>A | Substitution | p.Glu358Lys | Substitution | 2B | EDMD2 | Bonne et al, 2000 | | 11388 | c.1072G>A | Substitution | p.Glu358Lys | Substitution | 2B | EDMD2 | Bonne et al, 2000 | | 11816 | c.1072G>A | Substitution | p.Glu358Lys | Substitution | 2B | EDMD2, CMD | Benedetti et al, 2007 | | 9167 | c.1072G>A | Substitution | p.Glu358Lys | Substitution | 2B | EDMD2 | Mercuri et al, 2004 | | 11478 | c.1072G>A | Substitution | p.Glu358Lys | Substitution | 2B | EDMD2 | Mercuri et al, 2004 | | 11479 | c.1072G>A | Substitution | p.Glu358Lys | Substitution | 2B | EDMD2 | Mercuri et al, 2004 | | 11480 | c.1072G>A | Substitution | p.Glu358Lys | Substitution | 2B | EDMD2 | Mercuri et al, 2004 | | 11752 | c.1072G>A | Substitution | p.Glu358Lys | Substitution | 2B | EDMD2 | Benedetti et al, 2007 | | 12479 | c.1072G>A | Substitution | p.Glu358Lys | Substitution | 2B | EDMD2 | Sewry et al, 2001 | | 12483 | c.1072G>A | Substitution | p.Glu358Lys | Substitution | 2B | EDMD2 | Mercuri et al, 2000 | | 13116 | c.1072G>T | Substitution | p.Glu358X | Substitution | 2B | CMD1A | De Backer et al, 2008 | | 13468 | c.1072G>A | Substitution | p.Glu358Lys | Substitution | 2B | Dropped head syndrome | Quijano-Roy et al, 2008 | | 13482 | c.1072G>A | Substitution | p.Glu358Lys | Substitution | 2B | Dropped head syndrome | Quijano-Roy et al, 2008 | | 13484 | c.1072G>A | Substitution | p.Glu358Lys | Substitution | 2B | Dropped head syndrome | Quijano-Roy et al, 2008 | | 9152 | c.1085_1085delT | Deletion | p.Leu363TrpfsX117 | Frame shift | 2B | CMD1A | Kärkkäinen et al, 2006 | | 8806 | c.1112T>A | Substitution | p.Met371Lys | Substitution | 2B | EDMD2 | Bonne et al, 2000 | | 13102 | c.1114delG | Deletion | p.Glu372ArgfsX107 | Frame shift | 2B | CMD1I | Parks et al, 2008 | | 8794 | c.1130G>A | Substitution | p.Arg377His | Substitution | 2B | LGMD1B | Muchir et al, 2000 | | 8850 | c.1130G>T | Substitution | p.Arg377Leu | Substitution | 2B | LGMD1B | Ki et al, 2002 | | 8866 | c.1130G>A | Substitution | p.Arg377His | Substitution | 2B | CMD1A | Taylor et al, 2003 | | 8869 | c.1130G>A | Substitution | p.Arg377His | Substitution | 2B | CMD1A | Charniot et al, 2003 | | 8880 | c.1130G>A | Substitution | p.Arg377His | Substitution | 2B | CMD1A | Sébillon et al, 2003 | | 9301 | c.1130G>A | Substitution | p.Arg377His | Substitution | 2B | LGMD1B | Muchir et al, 2004 | | 9024 | c.1130G>T | Substitution | p.Arg377Leu | Substitution | 2B | LGMD1B | Hong et al, 2005 | | 9160 | c.1130G>A | Substitution | p.Arg377His | Substitution | 2B | CMD1A | Charniot et al, 2006 | | 9162 | c.1130G>A | Substitution | p.Arg377His | Substitution | 2B | CMD1A | Perrot et al, 2006 | | 11634 | c.1130G>T | Substitution | p.Arg377Leu | Substitution | 2B | EDMD2 | Boriani et al, 2003 | | 11693 | c.1130G>A | Substitution | p.Arg377His | Substitution | 2B | EDMD2 | Reichart et al, 2004 | | 11762 | c.1130G>A | Substitution | p.Arg377His | Substitution | 2B | LGMD1B | Benedetti et al, 2007 | | 11767 | c.1130G>T | Substitution | p.Arg377Leu | Substitution | 2B | AD-SMA | Rudnik-Schöneborn et al, 2007 | | 12330 | c.1130G>A | Substitution | p.Arg377His | Substitution | 2B | CMD1A | Charniot et al, 2007 | | 12405 | c.1130G>A | Substitution | p.Arg377His | Substitution | 2B | EDMD2 | van Tintelen et al, 2007 | | 12410 | c.1130G>T | Substitution | p.Arg377Leu | Substitution | 2B | Muscular dystrophy | van Tintelen et al, 2007 | | 13178 | c.1130G>T | Substitution | p.Arg377Leu | Substitution | 2B | CMD1A | Pasotti et al, 2008 | | 13460 | c.1139T>C | Substitution | p.Leu380Ser | Substitution | 2B | CMD | Quijano-Roy et al, 2008 | | 12474 | c.1142A>C | Substitution | p.Glu381Ala | Substitution | 2B | EDMD2 | Sewry et al, 2001 | | 11755 | c.1146C>T | Substitution | p.= | Silent | Not affected | LGMD1B | Benedetti et al, 2007 | | 13501 | c.1149G>A | Substitution | p.= | Silent | Not affected | LAF | Brauch et al, 2009 | | 11629 | c.1157G>A | Substitution | p.Arg386Lys | Substitution | 2B | EDMD2 | Boriani et al, 2003 | | 13208 | c.1157+1G>A | Substitution | p.? | Unknown | Unknown | DCM-CD | Pasotti et al, 2008 | | 13497 | c.1158-44C>T | Substitution | p.? | Unknown | Unknown | LAF | Brauch et al, 2009 | | 13499 | c.1158-44C>T | Substitution | p.? | Unknown | Unknown | LAF | Brauch et al, 2009 | | 13059 | c.1159C>G | Substitution | p.Leu387Val | Substitution | 2B | Metabolic syndrome | Decaudain et al, 2007 | | 11817 | c.1162C>T | Substitution | p.Arg388Cys | Substitution | Tail | EDMD2, CMD | Benedetti et al, 2007 | | 13104 | c.1163G>A | Substitution | p.Arg388His | Substitution | Tail | CMD1A | Parks et al, 2008 | | 9281 | c.1187A>G | Substitution | p.Gln396Arg | Substitution | Tail | EDMD2 | Wessely et al, 2005 | | 11776 | c.1195C>T | Substitution | p.Arg399Cys | Substitution | Tail | FPLD2 | Lanktree et al, 2007 | | 13106 | c.1195C>T | Substitution | p.Arg399Cys | Substitution | Tail | CMD1A | Parks et al, 2008 | | 13063 | c.1196G>A | Substitution | p.Arg399His | Substitution | Tail | Metabolic syndrome | Decaudain et al, 2007 | | 8862 | c.1201C>T | Substitution | p.Arg401Cys | Substitution | Tail | EDMD2 | Hanisch et al, 2002 | | 9176 | c.1201C>T | Substitution | p.Arg401Cys | Substitution | Tail | EDMD2 | Vytopil et al, 2002 | | 9302 | c.1201C>T | Substitution | p.Arg401Cys | Substitution | Tail | EDMD2 | Muchir et al, 2004 | | 13507 | c.1243G>A | Substitution | p.Val415Ile | Substitution | Tail | LAF | Brauch et al, 2009 | | 13065 | c.1262T>C | Substitution | p.Leu421Pro | Substitution | Tail | Metabolic syndrome | Decaudain et al, 2007 | | 13108 | c.1307_1308insGCAC | Insertion | p.Ser437HisfsX1 | Frame shift | Tail | CMD1A | Parks et al, 2008 | | 12096 | c.1315C>T | Substitution | p.Arg439Cys | Substitution | Tail | FPLD2 | Vantyghem et al, 2007 | | 13067 | c.1315C>T | Substitution | p.Arg439Cys | Substitution | Tail | Metabolic syndrome | Decaudain et al, 2007 | | 11542 | c.[1445G>A; =]+[=; 1318G>A] | Substitution | p.[Arg482Gln; =]+[=; Val440Met] | Substitution | Tail | FPLD2 | Hegele et al, 2000 | | 12380 | c.[1318G>A; =]+[=; 1580G>A] | Substitution | p.[Val440Met; =]+[=; Arg527His] | Substitution | Tail | MADA | Lombardi et al, 2007 | | 9004 | c.1337A>T | Substitution | p.Asp446Val | Substitution | Tail | EDMD2 | Vytopil et al, 2003 | | 8744 | c.1357C>T | Substitution | p.Arg453Trp | Substitution | Tail | EDMD2 | Bonne et al, 1999 | | 8787 | c.1357C>T | Substitution | p.Arg453Trp | Substitution | Tail | EDMD2 | Raffaele Di Barletta et al, 2000 | | 11382 | c.1357C>T | Substitution | p.Arg453Trp | Substitution | Tail | EDMD2 | Raffaele Di Barletta et al, 2000 | | 11383 | c.1357C>T | Substitution | p.Arg453Trp | Substitution | Tail | EDMD2 | Raffaele Di Barletta et al, 2000 | | 11384 | c.1357C>T | Substitution | p.Arg453Trp | Substitution | Tail | EDMD2 | Raffaele Di Barletta et al, 2000 | | 8807 | c.1357C>T | Substitution | p.Arg453Trp | Substitution | Tail | EDMD2 | Bonne et al, 2000 | | 11389 | c.1357C>T | Substitution | p.Arg453Trp | Substitution | Tail | EDMD2 | Bonne et al, 2000 | | 11390 | c.1357C>T | Substitution | p.Arg453Trp | Substitution | Tail | EDMD2 | Bonne et al, 2000 | | 8836 | c.1357C>T | Substitution | p.Arg453Trp | Substitution | Tail | EDMD2 | Brown et al, 2001 | | 9005 | c.1357C>T | Substitution | p.Arg453Trp | Substitution | Tail | EDMD2 | Vytopil et al, 2003 | | 9304 | c.1357C>T | Substitution | p.Arg453Trp | Substitution | Tail | EDMD2 | Muchir et al, 2004 | | 11614 | c.1357C>T | Substitution | p.Arg453Trp | Substitution | Tail | EDMD2 | Colomer et al, 2002 | | 11753 | c.1357C>T | Substitution | p.Arg453Trp | Substitution | Tail | EDMD2 | Benedetti et al, 2007 | | 11756 | c.1357C>T | Substitution | p.Arg453Trp | Substitution | Tail | LGMD1B | Benedetti et al, 2007 | | 12481 | c.1357C>T | Substitution | p.Arg453Trp | Substitution | Tail | EDMD2 | Sewry et al, 2001 | | 13474 | c.1358G>C | Substitution | p.Arg453Pro | Substitution | Tail | Dropped head syndrome | Quijano-Roy et al, 2008 | | 13472 | c.1364G>C | Substitution | p.Arg455Pro | Substitution | Tail | Dropped head syndrome | Quijano-Roy et al, 2008 | | 13478 | c.1366A>G | Substitution | p.Asn456Asp | Substitution | Tail | Dropped head syndrome | Quijano-Roy et al, 2008 | | 9513 | c.1367A>T | Substitution | p.Asn456Ile | Substitution | Tail | EDMD2 | Brown et al, 2001 | | 8810 | c.1368C>A | Substitution | p.Asn456Lys | Substitution | Tail | EDMD2 | Bonne et al, 2000 | | 11818 | c.1368_1370delCAA | Deletion | p.Asn456del | Deletion | Tail | EDMD2, CMD | Benedetti et al, 2007 | | 11812 | c.1370delA | Deletion | p.Lys457SerfsX21 | Frame shift | Tail | CMD1A, LGMD1B | Benedetti et al, 2007 | | 12397 | c.1380+1G>A | Substitution | p.? | Unknown | Unknown | CMD1A | van Tintelen et al, 2007 | | 13480 | c.1381-2A>G | Substitution | p.? | Unknown | Unknown | Dropped head syndrome | Quijano-Roy et al, 2008 | | 8781 | c.1394G>A | Substitution | p.Gly465Asp | Substitution | Tail | FPLD2 | Speckman et al, 2000 | | 9413 | c.1397_1397delA | Deletion | p.Asn466IlefsX14 | Frame shift | Tail | CMD1A | Genschel et al, 2000 | | 9161 | c.1397_1397delA | Deletion | p.Asn466IlefsX14 | Frame shift | Tail | CMD1A | Perrot et al, 2006 | | 8791 | c.1406T>C | Substitution | p.Ile469Thr | Substitution | Tail | EDMD2 | Raffaele Di Barletta et al, 2000 | | 9393 | c.1411C>T | Substitution | p.Arg471Cys | Substitution | Tail | HGPS | Cao and Hegele, 2003 | | 12601 | c.1411C>G | Substitution | p.Arg471Gly | Substitution | Tail | FPLD2, FPLD1 | Muschke et al, 2007 | | 12615 | c.1411C>T | Substitution | p.Arg471Cys | Substitution | Tail | MADA, Lamin-related rigid spine muscular dystrophy, HGPS | Zirn et al, 2008 | | 13110 | c.1412G>A | Substitution | p.Arg471His | Substitution | Tail | CMD1A | Parks et al, 2008 | | 13112 | c.1424_1425insAGA | Insertion | p.Gly474_Asp475insGlu | Insertion | Tail | CMD1I | Parks et al, 2008 | | 8839 | c.1441T>C | Substitution | p.Tyr481His | Substitution | Tail | LGMD1B | Kitaguchi et al, 2001 | | 11508 | c.1443C>G | Substitution | p.Tyr481X | Substitution | Tail | CMD1A | Sylvius et al, 2005 | | 8754 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Shackleton et al, 2000 | | 11358 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Shackleton et al, 2000 | | 11359 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Shackleton et al, 2000 | | 11360 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Shackleton et al, 2000 | | 11361 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Shackleton et al, 2000 | | 11362 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Shackleton et al, 2000 | | 11363 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Shackleton et al, 2000 | | 11364 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Shackleton et al, 2000 | | 11365 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Shackleton et al, 2000 | | 8773 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Speckman et al, 2000 | | 11374 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Speckman et al, 2000 | | 11375 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Speckman et al, 2000 | | 11376 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Speckman et al, 2000 | | 11377 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Speckman et al, 2000 | | 11378 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Speckman et al, 2000 | | 11379 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Speckman et al, 2000 | | 8816 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Vigouroux et al, 2000 | | 11393 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Vigouroux et al, 2000 | | 11394 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Vigouroux et al, 2000 | | 11395 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Vigouroux et al, 2000 | | 11396 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Vigouroux et al, 2000 | | 11397 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Vigouroux et al, 2000 | | 8834 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Schmidt et al, 2001 | | 9213 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Owen et al, 2003 | | 9156 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Owen et al, 2003 | | 11543 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Hegele et al, 2000 | | 11544 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Hegele et al, 2000 | | 11662 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Lüdtke et al, 2005 | | 11692 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Vantyghem et al, 2004 | | 11699 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Vantyghem et al, 2004 | | 12101 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Vantyghem et al, 2007 | | 12102 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Vantyghem et al, 2007 | | 12103 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Vantyghem et al, 2007 | | 12104 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Vantyghem et al, 2007 | | 12105 | c.1444C>T | Substitution | p.Arg482Trp | Substitution | Tail | FPLD2 | Vantyghem et al, 2007 | | 8753 | c.1445G>A | Substitution | p.Arg482Gln | Substitution | Tail | FPLD2 | Cao and Hegele, 2000 | | 11354 | c.1445G>A | Substitution | p.Arg482Gln | Substitution | Tail | FPLD2 | Cao and Hegele, 2000 | | 11355 | c.1445G>A | Substitution | p.Arg482Gln | Substitution | Tail | FPLD2 | Cao and Hegele, 2000 | | 11356 | c.1445G>A | Substitution | p.Arg482Gln | Substitution | Tail | FPLD2 | Cao and Hegele, 2000 | | 11357 | c.1445G>A | Substitution | p.Arg482Gln | Substitution | Tail | FPLD2 | Cao and Hegele, 2000 | | 8763 | c.1445G>A | Substitution | p.Arg482Gln | Substitution | Tail | FPLD2 | Shackleton et al, 2000 | | 8764 | c.1445G>T | Substitution | p.Arg482Leu | Substitution | Tail | FPLD2 | Shackleton et al, 2000 | | 8768 | c.1445G>A | Substitution | p.Arg482Gln | Substitution | Tail | FPLD2 | Speckman et al, 2000 | | 11370 | c.1445G>A | Substitution | p.Arg482Gln | Substitution | Tail | FPLD2 | Speckman et al, 2000 | | 11371 | c.1445G>A | Substitution | p.Arg482Gln | Substitution | Tail | FPLD2 | Speckman et al, 2000 | | 11372 | c.1445G>A | Substitution | p.Arg482Gln | Substitution | Tail | FPLD2 | Speckman et al, 2000 | | 11373 | c.1445G>A | Substitution | p.Arg482Gln | Substitution | Tail | FPLD2 | Speckman et al, 2000 | | 8822 | c.1445G>A | Substitution | p.Arg482Gln | Substitution | Tail | FPLD2 | Vigouroux et al, 2000 | | 8868 | c.1445G>A | Substitution | p.Arg482Gln | Substitution | Tail | FPLD2 | Araújo-Vilar et al, 2003 | | 9305 | c.1445G>T | Substitution | p.Arg482Leu | Substitution | Tail | FPLD2 | Muchir et al, 2004 | | 11663 | c.1445G>A | Substitution | p.Arg482Gln | Substitution | Tail | FPLD2 | Lüdtke et al, 2005 | | 11667 | c.1445G>A | Substitution | p.Arg482Gln | Substitution | Tail | FPLD2 | Hegele et al, 2000 | | 12098 | c.1445G>A | Substitution | p.Arg482Gln | Substitution | Tail | FPLD2 | Vantyghem et al, 2007 | | 13150 | c.1445G>A | Substitution | p.Arg482Gln | Substitution | Tail | FPLD2 | Gambineri et al, 2008 | | 13367 | c.1445G>A | Substitution | p.Arg482Gln | Substitution | Tail | FPLD2 | Imachi et al, 2008 | | 8765 | c.1458G>C | Substitution | p.Lys486Asn | Substitution | Tail | FPLD2 | Shackleton et al, 2000 | | 11366 | c.1458G>C | Substitution | p.Lys486Asn | Substitution | Tail | FPLD2 | Shackleton et al, 2000 | | 8767 | c.1458G>T | Substitution | p.Lys486Asn | Substitution | Tail | FPLD2 | Shackleton et al, 2000 | | 13511 | c.1462A>C | Substitution | p.Thr488Pro | Substitution | Tail | LAF | Brauch et al, 2009 | | 11766 | c.1477C>T | Substitution | p.Gln493X | Substitution | Tail | AD-SMA | Rudnik-Schöneborn et al, 2007 | | 9319 | c.1488+5G>C | Substitution | p.Ile497_Met664delins20 | Indel | Tail | FPLD2 | Morel et al, 2006 | | 13376 | c.1488+5G>A | Substitution | p.? | Unknown | Unknown | LGMD1B | Tsao and Mendell, 2009 | | 13180 | c.1492T>A | Substitution | p.Trp498Arg | Substitution | Tail | EDMD2, CMD1A | Pasotti et al, 2008 | | 9153 | c.1493_1493delG | Deletion | p.Ala499LeufsX47 | Frame shift | Tail | CMD1A | Kärkkäinen et al, 2006 | | 9181 | c.1494G>T | Substitution | p.Trp498Cys | Substitution | Tail | LGMD1B | Spuler et al, 2005 | | 9158 | c.1494G>T | Substitution | p.Trp498Cys | Substitution | Tail | LGMD1B | D'Amico et al, 2005 | | 13374 | c.1496_1496delC | Deletion | p.Ala499ValfsX141 | Frame shift | Tail | CMT2 | Duparc et al, 2009 | | 12395 | c.1512_1513insAG | Insertion | p.Thr505ArgfsX44 | Frame shift | Tail | CMD1A | van Tintelen et al, 2007 | | 13069 | c.1516C>G | Substitution | p.His506Asp | Substitution | Tail | Metabolic syndrome | Decaudain et al, 2007 | | 11814 | c.1526_1527insC | Insertion | p.Thr510TyrfsX42 | Frame shift | Tail | DCM-CD | Arbustini et al, 2005 | | 9159 | c.1535T>C | Substitution | p.Leu512Pro | Substitution | Tail | LGMD1B | Pegoraro et al, 2005 | | 11763 | c.1535T>C | Substitution | p.Leu512Pro | Substitution | Tail | LGMD1B | Benedetti et al, 2007 | | 12434 | c.1558T>G | Substitution | p.Trp520Gly | Substitution | Tail | EDMD2 | Liang et al, 2007 | | 8811 | c.1559G>C | Substitution | p.Trp520Ser | Substitution | Tail | EDMD2 | Bonne et al, 2000 | | 9394 | c.1579C>T | Substitution | p.Arg527Cys | Substitution | Tail | HGPS | Cao and Hegele, 2003 | | 11624 | c.1579_1580insCTGC | Insertion | p.Arg527ProfsX26 | Frame shift | Tail | CMD1A | Verga et al, 2003 | | 13119 | c.1579C>T | Substitution | p.Arg527Cys | Substitution | Tail | MADA, HGPS | Agarwal et al, 2008 | | 8745 | c.1580G>C | Substitution | p.Arg527Pro | Substitution | Tail | EDMD2 | Bonne et al, 1999 | | 11344 | c.1580G>C | Substitution | p.Arg527Pro | Substitution | Tail | EDMD2 | Bonne et al, 1999 | | 8792 | c.1580G>C | Substitution | p.Arg527Pro | Substitution | Tail | EDMD2 | Raffaele Di Barletta et al, 2000 | | 8812 | c.1580G>C | Substitution | p.Arg527Pro | Substitution | Tail | EDMD2 | Bonne et al, 2000 | | 11391 | c.1580G>C | Substitution | p.Arg527Pro | Substitution | Tail | EDMD2 | Bonne et al, 2000 | | 8838 | c.1580G>C | Substitution | p.Arg527Pro | Substitution | Tail | EDMD2 | Brown et al, 2001 | | 8851 | c.1580G>A | Substitution | p.Arg527His | Substitution | Tail | MADA | Novelli et al, 2002 | | 11419 | c.1580G>A | Substitution | p.Arg527His | Substitution | Tail | MADA | Novelli et al, 2002 | | 11420 | c.1580G>A | Substitution | p.Arg527His | Substitution | Tail | MADA | Novelli et al, 2002 | | 11421 | c.1580G>A | Substitution | p.Arg527His | Substitution | Tail | MADA | Novelli et al, 2002 | | 11422 | c.1580G>A | Substitution | p.Arg527His | Substitution | Tail | MADA | Novelli et al, 2002 | | 8859 | c.1580G>C | Substitution | p.Arg527Pro | Substitution | Tail | EDMD2 | van der Kooi et al, 2002 | | 11423 | c.1580G>C | Substitution | p.Arg527Pro | Substitution | Tail | EDMD2 | van der Kooi et al, 2002 | | 8877 | c.1580G>A | Substitution | p.Arg527His | Substitution | Tail | MADA | Simha et al, 2003 | | 11453 | c.1580G>A | Substitution | p.Arg527His | Substitution | Tail | MADA | Simha et al, 2003 | | 8995 | c.1580G>A | Substitution | p.Arg527His | Substitution | Tail | MADA | Shen et al, 2003 | | 9224 | c.1580G>A | Substitution | p.Ala527His | Substitution | Tail | MADA | Garg et al, 2005 | | 11630 | c.1580G>C | Substitution | p.Arg527Pro | Substitution | Tail | EDMD2 | Boriani et al, 2003 | | 11754 | c.1580G>C | Substitution | p.Arg527Pro | Substitution | Tail | EDMD2 | Benedetti et al, 2007 | | 13319 | c.1580G>C | Substitution | p.Arg527Pro | Substitution | Tail | EDMD3 | Makri et al, 2008 | | 8793 | c.1583C>A | Substitution | p.Thr528Lys | Substitution | Tail | EDMD2 | Raffaele Di Barletta et al, 2000 | | 8814 | c.1583C>A | Substitution | p.Thr528Lys | Substitution | Tail | EDMD2 | Bonne et al, 2000 | | 11392 | c.1583C>A | Substitution | p.Thr528Lys | Substitution | Tail | EDMD2 | Bonne et al, 2000 | | 9006 | c.1583C>G | Substitution | p.Thr528Arg | Substitution | Tail | EDMD2 | Vytopil et al, 2003 | | 11482 | c.[1748C>T; =]+[=; 1583C>T] | Substitution | p.[Ser583Leu; =]+[=; Thr528Met] | Substitution | Tail | FPLD1 | Savage et al, 2004 | | 11671 | c.[1583C>T; =]+[=; 1619T>C] | Substitution | p.[Thr528Met; =]+[=; Met540Thr] | Substitution | Tail | HGPS | Verstraeten et al, 2006 | | 11758 | c.1583C>A | Substitution | p.Thr528Lys | Substitution | Tail | LGMD1B | Benedetti et al, 2007 | | 12598 | c.1585G>A | Substitution | p.Ala529Thr | Substitution | Tail | MADA | Kosho et al, 2007 | | 9317 | c.1586C>T | Substitution | p.Ala529Val | Substitution | Tail | MADA | Garg et al, 2005 | | 8747 | c.1589T>C | Substitution | p.Leu530Pro | Substitution | Tail | EDMD2 | Bonne et al, 1999 | | 13446 | c.1608+1G>A | Substitution | p.? | Unknown | Unknown | LGMD1B | Ambrosi et al, 2009 | | 9412 | c.1608+5G>C | Substitution | p.Glu537ValfsX36 | Frame shift | Tail | LGMD1B | Muchir et al, 2000 | | 13153 | c.1609-12T>G | Substitution | p.Glu536fsX14 | Frame shift | Tail | Heart-hand syndrome, Slovenian Type | Renou et al, 2008 | | 13151 | c.1609-3C>G | Substitution | p.? | Unknown | Unknown | LGMD1B | Chrestian et al, 2008 | | 9008 | c.1621C>T | Substitution | p.Arg541Cys | Substitution | Tail | DCM-CD | Forissier et al, 2003 | | 9307 | c.1621C>T | Substitution | p.Arg541Cys | Substitution | Tail | CMD1A | Muchir et al, 2004 | | 9283 | c.1621C>A | Substitution | p.Arg541Ser | Substitution | Tail | CMD1A | Sylvius et al, 2005 | | 9151 | c.1621C>A | Substitution | p.Arg541Ser | Substitution | Tail | CMD1A | Kärkkäinen et al, 2006 | | 12416 | c.1621C>T | Substitution | p.Arg541Cys | Substitution | Tail | Cardiac arrhythmia | Hookana et al, 2007 | | 9007 | c.1622G>A | Substitution | p.Arg541His | Substitution | Tail | EDMD2 | Vytopil et al, 2003 | | 12412 | c.1622G>C | Substitution | p.Arg541Lys | Substitution | Tail | Muscular dystrophy | van Tintelen et al, 2007 | | 9013 | c.1626G>C | Substitution | p.Lys542Asn | Substitution | Tail | HGPS | Plasilova et al, 2004 | | 13047 | c.1698C>T | Substitution | p.= | Silent | Not affected | Metabolic syndrome | Steinle et al, 2004 | | 9392 | c.1718C>T | Substitution | p.Ser573Leu | Substitution | Tail | CMD1A | Taylor et al, 2003 | | 9157 | c.1718C>T | Substitution | p.Ser573Leu | Substitution | Tail | - | Van Esch et al, 2006 | | 11764 | c.1718C>T | Substitution | p.Ser573Leu | Substitution | Tail | LGMD1B | Benedetti et al, 2007 | | 11777 | c.1718C>T | Substitution | p.Ser573Leu | Substitution | Tail | FPLD2 | Lanktree et al, 2007 | | 13182 | c.1718C>T | Substitution | p.Ser573Leu | Substitution | Tail | CMD1A | Pasotti et al, 2008 | | 13183 | c.1718C>T | Substitution | p.Ser573Leu | Substitution | Tail | CMD1A | Pasotti et al, 2008 | | 9173 | c.1733A>T | Substitution | p.Glu578Val | Substitution | Tail | HGPS | Csoka et al, 2004 | | 8780 | c.1745G>A | Substitution | p.Arg582His | Substitution | Tail | FPLD2 | Speckman et al, 2000 | | 9183 | c.1748C>T | Substitution | p.Ser583Leu | Substitution | Tail | FPLD1 | Savage et al, 2004 | | 11481 | c.1748C>T | Substitution | p.Ser583Leu | Substitution | Tail | FPLD1 | Savage et al, 2004 | | 9452 | c.1751G>A | Substitution | p.Arg584His | Substitution | Tail | FPLD2 | Vigouroux et al, 2000 | | 11545 | c.1751G>A | Substitution | p.Arg584His | Substitution | Tail | FPLD2 | Hegele et al, 2000 | | 12429 | c.1772G>T | Substitution | p.Arg156Cys | Substitution | 1B | FPLD2 | Araújo-Vilar et al, 2007 | | 13503 | c.1803C>T | Substitution | p.= | Silent | Not affected | LAF | Brauch et al, 2009 | | 9022 | c.1804G>A | Substitution | p.Gly602Ser | Substitution | Tail | Type A insulin resistance syndrome | Young et al, 2005 | | 11785 | c.1821G>A | Substitution | p.= | Silent | Not affected | HGPS | Moulson et al, 2007 | | 9527 | c.1822G>A | Substitution | p.Gly608Ser | Substitution | Tail | HGPS | Eriksson et al, 2003 | | 8876 | c.1822G>A | Substitution | p.Gly608Ser | Substitution | Tail | HGPS | Cao and Hegele, 2003 | | 9396 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Tail | HGPS | De Sandre-Giovannoli et al, 2003 | | 9398 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Tail | HGPS | Eriksson et al, 2003 | | 11428 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Tail | HGPS | Eriksson et al, 2003 | | 11429 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Tail | HGPS | Eriksson et al, 2003 | | 11430 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Tail | HGPS | Eriksson et al, 2003 | | 11431 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Tail | HGPS | Eriksson et al, 2003 | | 11432 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Tail | HGPS | Eriksson et al, 2003 | | 11433 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Tail | HGPS | Eriksson et al, 2003 | | 11434 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Tail | HGPS | Eriksson et al, 2003 | | 11435 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Tail | HGPS | Eriksson et al, 2003 | | 11436 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Tail | HGPS | Eriksson et al, 2003 | | 11437 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Tail | HGPS | Eriksson et al, 2003 | | 11438 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Tail | HGPS | Eriksson et al, 2003 | | 11439 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Tail | HGPS | Eriksson et al, 2003 | | 11440 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Tail | HGPS | Eriksson et al, 2003 | | 11441 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Tail | HGPS | Eriksson et al, 2003 | | 11442 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Tail | HGPS | Eriksson et al, 2003 | | 11443 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Tail | HGPS | Eriksson et al, 2003 | | 11444 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Tail | HGPS | Eriksson et al, 2003 | | 9395 | c.1824C>T | Substitution | p.? | Unknown | Unknown | HGPS | Cao and Hegele, 2003 | | 11449 | c.1824C>T | Substitution | p.? | Unknown | Unknown | HGPS | Cao and Hegele, 2003 | | 11450 | c.1824C>T | Substitution | p.? | Unknown | Unknown | HGPS | Cao and Hegele, 2003 | | 11451 | c.1824C>T | Substitution | p.? | Unknown | Unknown | HGPS | Cao and Hegele, 2003 | | 11452 | c.1824C>T | Substitution | p.? | Unknown | Unknown | HGPS | Cao and Hegele, 2003 | | 9171 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Tail | HGPS | D'Apice et al, 2004 | | 9166 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Tail | RD | Navarro et al, 2004 | | 9017 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Tail | HGPS | Sevenants et al, 2005 | | 9019 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Tail | HGPS | Wuyts et al, 2005 | | 12074 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Not affected | HGPS | Mazereeuw-Hautier et al, 2007 | | 12075 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Not affected | HGPS | Mazereeuw-Hautier et al, 2007 | | 12076 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Not affected | HGPS | Mazereeuw-Hautier et al, 2007 | | 12085 | c.1824C>T | Substitution | p.[=, Val607_Gln656del] | Silent, Deletion | Not affected | HGPS | Nakamura et al, 2007 | | 12354 | c.1824C>T | Substitution | p.= | Silent | Not affected | HGPS | Mutesa et al, 2007 | | 9009 | c.1868C>G | Substitution | p.[Thr623Ser, Val622_Gln656del] | Deletion, Substitution | Tail | HGPS | Fukuchi et al, 2004 | | 12457 | c.1868C>G | Substitution | p.[Thr623Ser, Val622_Gln656del] | Deletion, Substitution | Tail | HGPS | Shalev et al, 2007 | | 9383 | c.1871G>A | Substitution | p.Arg624His | Substitution | Tail | EDMD2 | Brown et al, 2001 | | 8833 | c.1930C>T | Substitution | p.Arg644Cys | Substitution | Tail | CMD1A | Genschel et al, 2001 | | 9174 | c.1930C>T | Substitution | p.Arg644Cys | Substitution | Tail | HGPS | Csoka et al, 2004 | | 9018 | c.1930C>T | Substitution | p.Arg644Cys | Substitution | Tail | CMD1A | Mercuri et al, 2005 | | 11500 | c.1930C>T | Substitution | p.Arg644Cys | Substitution | Tail | CMD1A | Mercuri et al, 2005 | | 11501 | c.1930C>T | Substitution | p.Arg644Cys | Substitution | Tail | CMD1A | Mercuri et al, 2005 | | 11502 | c.1930C>A | Substitution | p.Arg644His | Substitution | Tail | CMD1A | Mercuri et al, 2005 | | 9154 | c.1930C>T | Substitution | p.Arg644Cys | Substitution | Tail | - | Muntoni et al, 2006 | | 13185 | c.1930C>T | Substitution | p.Arg644Cys | Substitution | Tail | CMD1A | Pasotti et al, 2008 | | 13337 | c.1930C>T | Substitution | p.Arg644Cys | Substitution | Tail | CMD1A | Perrot et al, 2009 | | 11615 | c.1960C>T | Substitution | p.Arg654X | Substitution | Tail | HGPS | Denecke et al, 2006 | | 13114 | c.1960C>T | Substitution | p.Arg654X | Substitution | Tail | CMD1A | Parks et al, 2008 | | 13071 | c.1964_1965insG | Insertion | p.Thr655fsX49 | Frame shift | Tail | Metabolic syndrome | Decaudain et al, 2007 | | 9208 | c.1968+1G>A | Substitution | p.Gly567_Gln656del | Deletion | Tail | RD | Navarro et al, 2004 | | 11784 | c.1968+1G>A | Substitution | p.Val607_Gln656del | Deletion | Tail | HGPS | Moulson et al, 2007 |
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| ALLELIC VARIANTS |
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Note that a single record in the following table may represent multiple people with that particular variant who are in the same family.
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Information last updated on 2009-11-23 16:00:32
* variant associated with disease as a risk factor rather than a causal factor. Note: Sequences are numbered according to latest reference sequence information. Discrepancies may exist with some publications.
| ID | DNA Allelic Variant | DNA Allelic Variant Type | Protein Allelic Variant | Protein Allelic Variant Type | Domain | Population Studied | Allele Frequency | Reference |
|---|
| 13627 | c.51C>T | Substitution | p.= | Silent | - | - | - | Millat et al, 2009 | | 13629 | c.357-20C>T | Substitution | p.? | Unknown | - | - | - | Millat et al, 2009 | | 13631 | c.810+13G>T | Substitution | p.? | Unknown | - | - | - | Millat et al, 2009 | | 13633 | c.811-13T>A | Substitution | p.? | Unknown | - | - | - | Millat et al, 2009 | | 13635 | c.1157+16G>A | Substitution | p.? | Unknown | - | - | - | Millat et al, 2009 | | 13637 | c.1338T>C | Substitution | p.= | Silent | - | - | - | Millat et al, 2009 | | 13639 | c.1698C>T | Substitution | p.= | Silent | - | - | - | Millat et al, 2009 | | 13641 | c.1968+26A>G | Substitution | p.? | Unknown | - | - | - | Millat et al, 2009 | | 13643 | c.*27G>A | Substitution | p.? | Unknown | - | - | - | Millat et al, 2009 | | 14020 | c.1381-8C>G | Substitution | p.? | Unknown | - | - | - | Saga et al, 2009 | | 14040 | c.612G>A | Substitution | p.= | Silent | - | - | - | Taylor et al, 2004 | | 14042 | c.861T>C | Substitution | p.= | Silent | - | - | - | Taylor et al, 2004 | | 14044 | c.896T>C | Substitution | p.Ile299Thr | Substitution | - | - | - | Taylor et al, 2004 | | 14047 | c.1338T>C | Substitution | p.= | Silent | - | - | - | Taylor et al, 2004 | | 14049 | c.1698C>T | Substitution | p.= | Silent | - | - | - | Taylor et al, 2004 | | 14051 | c.*79G>C | Substitution | p.? | Unknown | - | - | - | Taylor et al, 2004 | | 14053 | c.640-10A>C | Substitution | p.? | Unknown | - | - | - | Taylor et al, 2004 | | 14057 | c.811-10T>A | Substitution | p.? | Unknown | - | - | - | Taylor et al, 2004 | | 14059 | c.1157+16G>A | Substitution | p.? | Unknown | - | - | - | Taylor et al, 2004 | | 14061 | c.1158-38G>A | Substitution | p.? | Unknown | - | - | - | Taylor et al, 2004 | | 14063 | c.1489-41C>T | Substitution | p.? | Unknown | - | - | - | Taylor et al, 2004 | | 14116 | c.1338T>C | Substitution | p.= | Silent | - | Polish | - | Madej-Pilarczyk et al, 2009 | | 8824 | c.51C>T | Substitution | p.= | Silent | Not affected | - | - | Vigouroux et al, 2000 | | 8881 | c.51C>T | Substitution | p.= | Silent | Not affected | European | - | Sébillon et al, 2003 | | 9233 | c.51C>T | Substitution | p.= | Silent | Not affected | African-American, Caucasian | - | Jacob et al, 2005 | | 13136 | c.51C>T | Substitution | p.= | Silent | Not affected | - | - | Agarwal et al, 2008 | | 13339 | c.51C>T | Substitution | p.= | Silent | Not affected | Caucasian | - | Perrot et al, 2009 | | 8882 | c.357C>T | Substitution | p.= | Silent | Not affected | European | - | Sébillon et al, 2003 | | 9234 | c.612G>A | Substitution | p.= | Silent | Not affected | African-American, Caucasian | - | Jacob et al, 2005 | | 13341 | c.612G>A | Substitution | p.= | Silent | Not affected | Caucasian | - | Perrot et al, 2009 | | 9528 | c.723G>A | Substitution | p.= | Silent | Not affected | - | - | Eriksson et al, 2003 | | 9555 | c.810+13G>T | Substitution | p.? | Unknown | Unknown | - | - | Vigouroux et al, 2000 | | 9562 | c.810+61C>T | Substitution | p.? | Unknown | Unknown | - | - | Eriksson et al, 2003 | | 8825 | c.861T>C | Substitution | p.= | Silent | Not affected | - | - | Vigouroux et al, 2000 | | 8856 | c.861T>C | Substitution | p.= | Silent | Not affected | Italian | - | Novelli et al, 2002 | | 8873 | c.861T>C | Substitution | p.= | Silent | Not affected | - | - | Eriksson et al, 2003 | | 9235 | c.861T>C | Substitution | p.= | Silent | Not affected | African-American, Caucasian | - | Jacob et al, 2005 | | 12459 | c.861T>C | Substitution | p.= | Silent | Not affected | - | - | Shalev et al, 2007 | | 13050 | c.861T>C | Substitution | p.= | Silent | Not affected | Amish | - | Steinle et al, 2004 | | 13138 | c.861T>C | Substitution | p.= | Silent | Not affected | - | - | Agarwal et al, 2008 | | 13343 | c.861T>C | Substitution | p.= | Silent | Not affected | Caucasian | - | Perrot et al, 2009 | | 13140 | c.937-7C>G | Substitution | p.? | Unknown | Unknown | - | - | Agarwal et al, 2008 | | 9178 | c.1028G>A | Substitution | p.Arg343Gln | Substitution | 2B | - | - | Vytopil et al, 2002 | | 8883 | c.1098G>A | Substitution | p.= | Silent | Not affected | European | - | Sébillon et al, 2003 | | 9560 | c.1157+16G>A | Substitution | p.? | Unknown | Unknown | Italian | - | Novelli et al, 2002 | | 9558 | c.1157+16G>A | Substitution | p.? | Unknown | Unknown | European | - | Simha et al, 2003 | | 12461 | c.1157+16G>A | Substitution | p.? | Unknown | Unknown | - | - | Shalev et al, 2007 | | 13142 | c.1157+16G>A | Substitution | p.? | Unknown | Unknown | - | - | Agarwal et al, 2008 | | 8884 | c.1299C>T | Substitution | p.= | Silent | Not affected | European | - | Sébillon et al, 2003 | | 8826 | c.1338T>C | Substitution | p.= | Silent | Not affected | - | - | Vigouroux et al, 2000 | | 8857 | c.1338T>C | Substitution | p.= | Silent | Not affected | Italian | - | Novelli et al, 2002 | | 8874 | c.1338T>C | Substitution | p.= | Silent | Not affected | - | - | Eriksson et al, 2003 | | 9236 | c.1338T>C | Substitution | p.= | Silent | Not affected | African-American, Caucasian | - | Jacob et al, 2005 | | 12465 | c.1338T>C | Substitution | p.= | Silent | Not affected | - | - | Shalev et al, 2007 | | 13144 | c.1338T>C | Substitution | p.= | Silent | Not affected | - | - | Agarwal et al, 2008 | | 13345 | c.1338T>C | Substitution | p.= | Silent | Not affected | Caucasian | - | Perrot et al, 2009 | | 9556 | c.1489-41C>T | Substitution | p.? | Unknown | Unknown | - | - | Vigouroux et al, 2000 | | 9561 | c.1489-41C>T | Substitution | p.? | Unknown | Unknown | - | - | Eriksson et al, 2003 | | 9559 | c.1489-41C>T | Substitution | p.? | Unknown | Unknown | European | - | Simha et al, 2003 | | 13146 | c.1489-41C>T | Substitution | p.? | Unknown | Unknown | - | - | Agarwal et al, 2008 | | 9557 | c.1609-5A>G | Substitution | p.? | Unknown | Unknown | - | - | Vigouroux et al, 2000 | | 8827 | c.1698C>T | Substitution | p.= | Silent | Not affected | - | - | Vigouroux et al, 2000 | | 8858 | c.1698C>T | Substitution | p.= | Silent | Not affected | Italian | - | Novelli et al, 2002 | | 8875 | c.1698C>T | Substitution | p.= | Silent | Not affected | - | - | Eriksson et al, 2003 | | 8996 | c.1698C>T | Substitution | p.= | Silent | Not affected | Mexican American | - | Shen et al, 2003 | | 9237 | c.1698C>T | Substitution | p.= | Silent | Not affected | African-American, Caucasian | - | Jacob et al, 2005 | | 12463 | c.1698C>T | Substitution | p.= | Silent | Not affected | - | - | Shalev et al, 2007 | | 13148 | c.1698C>T | Substitution | p.= | Silent | Not affected | - | - | Agarwal et al, 2008 | | 13347 | c.1698C>T | Substitution | p.= | Silent | Not affected | Caucasian | - | Perrot et al, 2009 | | 8835 | c.1908C>T | Substitution | p.= | Silent | Not affected | Canadian Inuit | - | Hegele et al, 2001 | | 12467 | c.*79G>C | Substitution | p.= | Silent | Not affected | - | - | Shalev et al, 2007 |
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