Human Intermediate Filament Database

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Human Intermediate Filament Database - lamin A

Intermediate Filament Details

Protein Name	lamin A
Gene Symbol	LMNA
Intermediate Filament Type	V
HGNC ID	6636
OMIM ID	*150330
NCBI Gene ID	4000

INTEGRATED SEQUENCE VIEW
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
Chromosome Strand +
Chromosome GI 51511461
Chromosome RefSeq ID NC_000001.8
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 : T C 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 A C : 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 T T 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 : T T : 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 ii C T 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 T A 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 A T A ddd d 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 T A : 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 C G : 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 C dd 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 : A A A : VARIANTS 152918984 : AGGTGGGCTG GGGAGACGTC GGGGAGGTGC TGGCAGTGTC CTCTGGCCGG : 152919033 1156 : AG : 1157 386 : R : 386 VARIANTS : K : VARIANTS VARIANTS : T G T A : VARIANTS 152919034 : CAACTGGCCT TGACTAGACC CCCACTTGGT CTCCCTCTCC CCAGGCTACG : 152919083 1158 : GCTACG : 1163 387 : L R : 388 VARIANTS : V H : VARIANTS VARIANTS : C : VARIANTS VARIANTS : G T A 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 T C T C : 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 G T A 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 G A 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 G T A 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 A d T : 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 : G C T C 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 : T A : VARIANTS VARIANTS : G G G C A C : 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 : T A A A 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
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
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
Head L12 L2 Tail
1A 1B 2A 2B
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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PROTEIN STRUCTURES
Information last updated on 2007-08-17 13:28:32
PDB ID View using Jmol
1IFR View
1IVT View
1X8Y View
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RELATED SEQUENCES AND MULTIPLE SEQUENCE ALIGNMENT
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
Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division
Rattus norvegicus 60374 NM_001002016.1 NP_001002016.1 Rodents
Mus musculus 16905 NM_001002011.1 NP_001002011.1 Rodents
Canis familiaris 480124 XM_859341.1 XP_864434.1 Mammals
Pan troglodytes 457385 XM_513875.2 XP_513875.2 Primates
Anopheles gambiae 1277933 XM_317447.3 XP_317447.2 Invertebrates
Caenorhabditis elegans 173976 NM_062735.3 NP_495136.1 Invertebrates
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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ASSOCIATED DISEASES
Information last updated on 2009-11-23 15:57:47
Click SEQUENCE VARIANTS to find individual mutations.
Disease Name Disease Abbreviation OMIM
Atypical Werner syndrome WRN #277700
Autosomal dominant spinal muscular dystrophy AD-SMA #182980
Axonal neuropathy, muscular dystrophy, cardiac disease
Axonal neuropathy, muscular dystrophy, cardiac disease, leuconychia
Cardiac arrhythmia
Cardiac conduction defect CCD #115080
Cardiomyopathy with advanced AV block and arrhythmia
Charcot-Marie-Tooth disease type 2 CMT2 #118210
Charcot-Marie-Tooth disease type 2B1 CMT2B1 #605588
Congenital muscular dystrophy CMD
Dilated cardiomyopathy 1A CMD1A #115200
Dilated cardiomyopathy 1I CMD1I #604765
Dilated cardiomyopathy with conduction system defects DCM-CD
Distal motor neuropathy
Dropped head syndrome
Emery-Dreifuss muscular dystrophy, autosomal dominant EDMD2 #181350
Emery-Dreifuss muscular dystrophy, autosomal recessive EDMD3 #604929
Familial partial lipodystrophy (Dunnigan type) FPLD2 #151660
Familial partial lipodystrophy (Köbberling) FPLD1 %608600
Generalized lipoatrophy syndrome
Heart-hand syndrome, Slovenian Type %610140
Hutchinson-Gilford progeria syndrome HGPS #176670
Lamin-related rigid spine muscular dystrophy
Limb-girdle muscular dystrophy type 1B LGMD1B #159001
Lone atrial fibrillation LAF
Mandibuloacral dysplasia with type A lipodystrophy MADA #248370
Metabolic syndrome
Muscular dystrophy
Muscular dystrophy and lipodystrophy
Restrictive dermopathy RD #275210
Type A insulin resistance syndrome
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SEQUENCE VARIANTS

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

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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