Difference between revisions of "Mapping SNPs BCKDHA"

From Bioinformatikpedia
(→‎SNPs in human)
(→‎SNPs in human)
Line 104: Line 104:
 
!position
  
!position
 
|-
  
|-
  +
|rs61736656||ATTACTGGGATAAACAGGACCACCCC [A/G] TCTCCCGGCTGCGGCACTATCTGCT||R||51
−
|rs137852876||CTTGAGTGCCCCATCATCTTCTTCTG[C/G]CGGAACAATGGCTACGCCATCTCCA||Ser||pos=251
  
 
|-
  
|-
  +
|rs1050647||GCTGGGTGAGGGCACATTCAGGACTA [A/G] AAGCCCCTCTGGGCATGGGGTGGAC||R||51
−
|rs137852875||TGATGTGTTTGCCGTATACAACGCCA[C/G]AAAGGAGGCCCGACGGCGGGCTGTG||Ser||pos=251
  
 
|-
  
|-
  +
|rs11549938||TCTCTGGAATCCCCATCTACCGCGTC [A/C] TGGACCGGCAAGGCCAGATCATCAA||M||51
−
|rs137852874||CAGCCAGTGAGGGGGACGCCCATGCC[A/G]GCTTCAACTTCGCTGCCACACTTGA||Arg||pos=251
  
 
|-
  
|-
  +
|rs11549937||ATCAACCCCAGCGAGGACCCCCACCT [C/G] CCGAAGGAGAAGGTGCTGAAGCTCT||S||51
−
|rs137852873||TTGAGTGCCCCATCATCTTCTTCTGC[C/T]GGAACAATGGCTACGCCATCTCCAC||Tyr||pos=251
  
 
|-
  
|-
  +
|rs3837930||CTTGTCCGATTGAATACTACTAAATA [-/A] CGCAGGGATACACACATCTCTCCCT||N||61
−
|rs137852872||GCCCAAACCCAACCCCAACCTACTCT[G/T]CTCAGACGTGTATCAGGAGATGCCC||Lys||pos=251
  
 
|-
  
|-
  +
|rs2288872||agagcaagactccgtctcaaaaaaat [A/G] taaaacaaaaTAAGCCAATACTGGA||R||61
−
|rs137852871||GTGTCCCCACAGCAGCACGAGGCCCC[A/G]GGTATGGCATCATGTCAATCCGCGT||Arg||pos=251
  
  +
|-
  +
|rs76846304||TGAGATCCTGTCTCAAAAAAAAAAAA [-/A] AGGAAATTGAAGTCAAAGAGGGAAG||N||101
  +
|-
  +
|rs74844919||CAGGGTTTTTGTTTTGTTTTGTTTTT [-/T] TKTTTTTTCGAGGTGGAGTTTTGCT||N||101
  +
|-
  +
|rs79441216||AGGGTTTTTGTTTTGTTTTGTTTTTT [G/T] TTTTTTCGAGGTGGAGTTTTGCTCT||K||101
  +
|-
  +
|rs72544848||TTTTGGGGCACAGCTAGATCCAGGGG [-/C] GTCTTCCAGGCAGGAAGTAGAGGGA||N||101
  +
|-
  +
|rs79327728||TCCCGAGTAGCTGGGATTACAGGCAT [A/G] CACCACCATGCCTGGCTAATTTTGT||R||101
  +
|-
  +
|rs72544849||AGTATGGACCAGAGGATGTGRGGGGG [-/G] GAGCTGTGTGGTGTCTTGAGGCAGG||N||101
  +
|-
  +
|rs75568330||TTTTTTTGACTTGCCCTAATCTTAGG [-/A] GTATTTACTTGTGTGGAGAGATGCA||N||101
  +
|-
  +
|rs77987454||CTAGCCTTCAGTTCAGGGCATGATTT [A/G] GAGCAAATGTTCAGTATCTGTTTAA||R||101
  +
|-
  +
|rs75747655||TATGGGATAGGTGTTAACTGTTTTCA [C/T] CCCAGTTTTTCAGATGGGGAAACTG||Y||101
  +
|-
  +
|rs75610485||TCGCAGCTCACTGCAGCCTCCTTCTC [C/T] CAGCTTCAAGCAATTCTCCTGCCTC||Y||101
  +
|-
  +
|rs75905923||TGGAGTACAATGGCACGATCTCGGCC [C/T] ACTGCAACTTCTGCCTCCCAGGTTC||Y||101
  +
|-
  +
|rs76715304||CACTGAAGTATGGACCAGAGGATGTG [A/G] GGGGGGAGCTGTGTGGTGTCTTGAG||R||101
  +
|-
  +
|rs75348131||CCCAAGCTGGAGTGCAGTGGCACGAT [C/T] TCGGCTCACTGCAACCTCCACTTCC||Y||101
  +
|-
  +
|rs78441720||CTATGGGATAGGTGTTAACTGTTTTC [A/T] TCCCAGTTTTTCAGATGGGGAAACT||W||101
  +
|-
  +
|rs77449630||CTGCCATTGGGAGTGTAATTTCCTCA [C/G] GACTACAAATGCAAATAAATACACA||S||102
  +
|-
  +
|rs79447197||ACCTCTCTTTCCTTTTTCTTTTTTTT [C/T] CTTTTTTGAGACAGAGTTTCACTCT||Y||102
  +
|-
  +
|rs74372796||AAGTGAGACCTGCTCAGCCCACCCCC [A/C] CCCATCCTCAGCTACCCCGAGAGGT||M||102
  +
|-
  +
|rs76878345||TAATTTTTAAAATTTTTTGTAGAGAT [C/G] TGATCTCAGGCTGGTCTTGAACTCC||S||102
  +
|-
  +
|rs75733136||AGGCTGCAGCCAGGACCCCGAGGGCT [G/T] GACCCTGTTCCATTTTCAGCACGGA||K||102
  +
|-
  +
|rs78393603||ATGTAAATGCCACCATTCCCAGCTAA [A/T] TTTTTTTTTTTTTTTTAGATAGAGT||W||102
  +
|-
  +
|rs75969121||CAGGCTGGTCTTGAACCTGAGTTCAA [C/G] TGATCTGCCCACCTTGGCCTCTCAA||S||102
  +
|-
  +
|rs79430127||ACATGTAAATGCCACCATTCCCAGCT [A/T] ATTTTTTTTTTTTTTTTTAGATAGA||W||102
  +
|-
  +
|rs77558911||AAATTTTGGGTAGATAGATTTTTTTT [C/T] CTCCAAATCTCTGTGCATTCTATCT||Y||102
  +
|-
  +
|rs284656||TGTGTCCTGGCTCTGTGTCCTTGGCA [C/T] GTTGCCCTCCACTTCCTTGTCTTTG||Y||157
  +
|-
  +
|rs116827405||ATGAGATTTGAGTGGGGACAGAGACA [A/G] ACCATGTCAGTGTGTATTGTGGGAT||R||201
  +
|-
  +
|rs4803463||CAATCATGAGAAATACTTACTCACTA [C/G] TTGTGTTTATGAAACattatgtgcc||S||201
  +
|-
  +
|rs114279979||TCAGACACATCCACCTGCTCCTCTCC [C/T] GCCTCCCTCTGCTACCAAGCTGGGC||Y||201
  +
|-
  +
|rs79041147||TTTTGGGGCACAGCTAGATCCAGGGG [C/G] TCTTCCAGGCAGGAAGTAGAGGGAA||S||201
  +
|-
  +
|rs4803464||GAGCCCCAGCCAGACTGCTTGTCAGA [A/G] Ccctgcttggcttctcgccctggat||R||201
  +
|-
  +
|rs77124294||TTTTCACATCTTGAGGCACTGAATGG [C/T] TTACAAATCCAACTCTAATTTTTTA||Y||201
  +
|-
  +
|rs12327776||TGTGAGTTAACTTAGCAACTTTTCAC [A/G] TGGTGTTCTGCAGccttcttacaga||R||201
  +
|-
  +
|rs114716391||CTCACCACCCTCTCATCCCCTGCAGC [G/T] GTGGGGGCGGCGTACGCAGCCAAGC||K||201
  +
|-
  +
|rs117300044||AGCCCAGGAGTTCAAGACCAACCTGG [A/G] TGACATCGTGAGACGCTGTCTCAAT||R||201
  +
|-
  +
|rs112542121||TGCTGTTATTTGGTTCATAATGATGA [-/TT] TTTTTTTTTTTTTTCGAGACAGGGT||N||201
  +
|-
  +
|rs118171954||TTGCCTGATTTTCACCTCCCTTCCTG [C/T] CTCTGTTATCATAGCAGACGTTTTA||Y||201
  +
|-
  +
|rs116647608||GAGTGCAGCAGCATGATCTTGACTTA [C/T] TGCAATCTCTGCCTGCCGAGTTCAA||Y||201
  +
|-
  +
|rs76458824||TAGTCCCGGCAGTTGCTGCCTGCGGG [A/G] GATTGAGACCTCTGTTAACAGAGGA||R||201
  +
|-
  +
|rs1473248||AAGAAGGTCCAAGGGACTGATACAGG [A/G] CCTTGGAATCAGGCTTTCTCAGAAT||R||201
  +
|-
  +
|rs118051219||AGAGAGCTCCCTCTGAATAATGTTCC [C/T] GGTCTGAGTGCTTGCAGCATTGATC||Y||201
  +
|-
  +
|rs114843826||GGTAAGAACCTGAGTCAACAAAGGTG [A/G] GGTCATGGGCCCAGGCCACATTCTC||R||201
  +
|-
  +
|rs10406198||CTGGCAGTTCTAAGCAGTCTGGCAGC [A/G] TCTTCTTAAAGGCAGGAACCCCAGC||R||201
  +
|-
  +
|rs80014754||CTCTGCTCTCTTCCCCAGCACCCCCC [A/C] AGGCAGCAGCAGCAGTTTTCATCTC||M||201
  +
|-
  +
|rs115268914||CTCTCTCGCCTAGGCTGGAGTGCAGC [A/G] GCATGATCTTGACTTACTGCAATCT||R||201
  +
|-
  +
|rs114008162||GGATGTCTAGGAGCCTGAATCTCAGC [A/G] TTGGAAGCCCAGTTCTGATGTAATT||R||201
  +
|-
  +
|rs79985915||CTATAGGTAAGACTTGCCCTAATCTT [C/T] TTTTTTTTTTTTTTTTTGACTTGCC||Y||201
  +
|-
  +
|rs77667400||CTGCCGCTTTCCACTTGTGTAGCCTT [G/T] GCCAACGGACTGCACTTCTCTGGAT||K||201
  +
|-
  +
|rs55940366||GCTGTGGCAGAGAACCAGCCCTTCCT [C/T] ATCGAGGCCATGACCTACAGGTGCC||Y||201
  +
|-
  +
|rs114160048||GAGGGGGCATTTAGGGGGCATTTGAG [C/T] TAAAGGTAATAGGGTTTCCACAAGG||Y||201
  +
|-
  +
|rs78664582||GCTCTATAGGTAAGACTTGCCCTAAT [C/T] TTTTTTTTTTTTTTTTTTTTGACTT||Y||201
  +
|-
  +
|rs78994114||AGTCCCGCAGGAAGGTGAGGGTGCCC [C/T] GCCCGGGAGGGTGTGCTGGGGGCTG||Y||201
  +
|-
  +
|rs112312448||GGGCTGTGGCAGAGAACCAGCCCTTC [-/C] TCATCGAGGCCATGACCTACAGGTG||N||201
  +
|-
  +
|rs117961146||CCGCCTCTCCACCAGCCTGTGAGGTG [A/G] ATGCCATCCCCACGAGGGCACGCAG||R||201
  +
|-
  +
|rs2241710||GGCACCCCAGTGTGCTCCACATACTG [C/G] AGCTGGGTCTCGGCTGTACCCTCCT||S||201
  +
|-
  +
|rs114459633||GGCGTAAGCCACTGCCCAGCATCCCC [A/C] CCTTTTTTTTTTTTTTTTTAAATTT||M||201
  +
|-
  +
|rs113901068||CGAGTTCAAGCAATTCTCCTGCCTCA [A/G] CCTCCCTAGTAGCTGGGATTACAGG||R||201
  +
|-
  +
|rs117950460||GAGAAATGTATTAATAATACTTTAGT [C/T] CCGGCAGTTGCTGCCTGCGGGAGAT||Y||201
  +
|-
  +
|rs115971313||CCGTGGGTCATGTGAGTGTGAATGAG [C/T] GTGAGTGCATGTGAGTCTCCGCCCC||Y||201
  +
|-
  +
|rs117379765||ACGGGAAAGCCAGGCCTGGGAACACA [G/T] GGAGGAGGGCACCGCCGAGCCGCGA||K||201
  +
|-
  +
|rs114198932||TTCCTTTTCTCTTCTCTTTTCTCTCT [C/G] TCTTTCTTTCTGTACCTCTCTTTCC||S||201
  +
|-
  +
|rs115211514||GAAGCGTATGTAGCAGTTTGCCAGGC [A/G] ATAGGGAAAGAGACCTTCTTGTAAA||R||201
  +
|-
  +
|rs75023451||AGAGCGGGCAGGTTGTGCTTTCCTGC [A/G] TGGTGGGAGAGGACGTGGCATGAAG||R||201
  +
|-
  +
|rs78727437||GTCTGTGCTCCAGACTTCTTCTTCTT [A/G] TTTTTTTCTTTTTTGAGACGGAGTC||R||201
  +
|-
  +
|rs79568656||TCACAGGCTGCATAGGGCCTTGTATT [C/T] CTTTGCTCCTTTGCCACAATTCTGA||Y||201
  +
|-
  +
|rs77623540||TCCTGCCAGAGCTGCGGCAGGTGCTT [C/T] CCCCGCCTCTCCACCAGCCTGTGAG||Y||201
  +
|-
  +
|rs62637712||CTCCTCTGCTCTCTTCCCCAGCACCC [C/G/T] CCCAGGCAGCAGCAGCAGTTTTCAT||B||201
  +
|-
  +
|rs111950596||AGGAGTTTGATACCAGCCTGGGCAAC [A/G] TGGCGAGACCCCCATCTCTAAAAAA||R||201
  +
|-
  +
|rs78673509||AAATAGACAGGTTTGCTTCAGTCCGG [A/G] ATGCAAGGACCTAGAGGGTGTGTGT||R||201
  +
|-
  +
|rs117030761||GGCCCCACATGCTCTAGGAGGGCAAA [C/T] GCCCTGTGGTGTTTGTCTAAGGTCT||Y||201
  +
|-
  +
|rs116993920||CAGGCTAGAGTGCTATGGCGCAATCT [C/T] GGCTCACTGCAACCCCCACCTCCCG||Y||201
  +
|-
  +
|rs114278248||GCTACCAGTTATTGACTTGCCAGCCA [C/T] TTGATTGAGTCATTTAACCTCACAA||Y||201
  +
|-
  +
|rs75557216||CCAGGCCTGAATCTGCCCTGCCATTG [C/G] GAGTGTAATTTCCTCACGACTACAA||S||201
  +
|-
  +
|rs116948250||ACTCTAGCCAAAGTGAGATCCTGTCT [A/C] AAAAAAAAAAAAAAGGAAATTGAAG||M||201
  +
|-
  +
|rs75840909||GGGTGGGGGTGCAGATGGTGCAGGTT [G/T] GGTGGGGCCTCAAGGCCTTTGCCTG||K||201
  +
|-
  +
|rs78924883||CAGTATCTGTTTAACAAGAACAATCA [C/T] GAGAAATACTTACTCACTACTTGTG||Y||201
  +
|-
  +
|rs117989172||TCTTTAAAAATTTTTTCTTTTTTTTT [C/T] CCTTGAGACAGGTCTTACTTTGTCA||Y||201
  +
|-
  +
|rs113649978||TTCTATTTTTAGTGGGTACAGGGTTT [C/T] GCCATGTTGGCCACATTGATCTCGA||Y||201
  +
|-
  +
|rs79245900||TAGCCCAGATTGGAGTGCAGTGGCAC [G/T] ATCTCAGCTGCCTGCAGCCTTGAAC||K||201
  +
|-
  +
|rs117069153||TTTGTTTGATTCCTGTGTCTCTTGAT [C/T] GAATATCAAGACAGAGAATTCGTGT||Y||201
  +
|-
  +
|rs113934297||CTAGGATTACAGGCGTAAGCCACTGC [-/CCAGCAT] CCAGCATCCCCACCTTTTTTTTTTT||N||201
  +
|-
  +
|rs76070674||TTTCAAACTACATCCAGAATCTCATC [A/C] CCTCCACTACTCCTGCTCTGGCTGG||M||201
  +
|-
  +
|rs77949523||TTTTTTGTGTGTGTGGCAGGGTCTCT [A/G] TTGCCCAGGCTGGGATGTGTTGGTG||R||201
  +
|-
  +
|rs117817570||GTGCAGTGGCACGATCTCAGCTGCCT [A/G] CAGCCTTGAACTTCTGGGCTGAAGC||R||201
  +
|-
  +
|rs114502373||TGTCCTGTCCCTGCCCTTCTCTGTGC [A/C] TCAGTTTCCTCATTGCTTAGCTGTC||M||201
  +
|-
  +
|rs2288870||CCTTTAGCTCAAATGCCCCCTAAATG [C/T] CCCCTCCTCTGAGAAAGCTTCCCTG||Y||201
  +
|-
  +
|rs10404506||ATCTCCTCTCCACTGGCCACGCAGAT [C/T] CCTCAGGGTGAGGATGCATGCCCTG||Y||201
  +
|-
  +
|rs113733825||TGAGCATTTATAGGCTTCTCACAGGT [-/CTC] CTGGGCTTTCTCAGCCATTCCTCAT||N||201
  +
|-
  +
|rs115015681||ATACCTGTATGAGCACTTTGGGAGGA [C/G] GATTGCTTGAGCCCAGGAGTTCAAG||S||201
  +
|-
  +
|rs114481527||CTCACTATGTTGCCTAGGCTGATCTC [A/G] AACCACTGGCCTTAAGTGATCCTCC||R||201
  +
|-
  +
|rs112156740||TCTGCCCCTCCTCTCATTCTCAGAGA [C/T] AGTTACAAAGATGGAACTATCTTCT||Y||201
  +
|-
  +
|rs74586298||ACACTGACCTGGGGCCCCTTGCCCCT [A/G] TGCAGGATCGGGCACCACAGCACCA||R||201
  +
|-
  +
|rs11671704||TGTGCTGAGCACTGCACCTGTTTTTG [C/T] TGAAGGGTTCTCTTGTGAGGGCACC||Y||201
  +
|-
  +
|rs117396977||CCCCCTCTTCACCTGTTGTTACAGTG [C/T] CTTCTCCCAGGGGCTGGGTGAGGGC||Y||201
  +
|-
  +
|rs117196001||TATTATATTTAATACACCAATAGTGC [A/G] AGGCCTTTATTGGTAGTACTCTCCT||R||201
  +
|-
  +
|rs79740365||CTGTTTCTATCTGTTACATATGCAGC [A/C] CAGCCACATCTTGTGTGGATTTGTA||M||201
  +
|-
  +
|rs114320868||GTGAAAGATCCACCCCCATAATTCAA [A/T] TACCTCCCACTGGCTCCTTCCCACA||W||201
  +
|-
  +
|rs114191970||CTTTGCCTGTTACAGGAGTAACTACA [A/G] TGAGGCGATTGGAGAAAATTTTGGG||R||201
  +
|-
  +
|rs114178789||GAACTGTCCCCCTGTACTGCCCACTC [A/G] GCTAACCATTGCCTCCTCCCCTCCT||R||201
  +
|-
  +
|rs116710207||ATTTGCTCTTGTTCCTGTTTTCAAGA [A/G] CAGGATGCCCGTGTTTTGTGTGTGT||R||201
  +
|-
  +
|rs115062082||TTTTGTAGAGATGTGATCTCAGGCTG [A/G] TCTTGAACTCCTGGGCTCACCTGGG||R||201
  +
|-
  +
|rs10421626||GAAGCCCCTCTGGGCATGGGGTGGAC [A/G] TGGCAGGTCAGCCTGTGGAACTTGC||R||201
  +
|-
  +
|rs115313500||ATGGTGCAGGGTTTTTGTTTTGTTTT [G/T] TTTTTTGTTTTTTCGAGGTGGAGTT||K||201
  +
|-
  +
|rs115280847||ACTTATTCAGTATAATGAGAACAGCA [C/T] GTGAAAGATCCACCCCCATAATTCA||Y||201
  +
|-
  +
|rs112907023||TTTTTCAGAGACGAGGGTTTTGCCTA [A/G] GCTGGACTCACTATGTTGCCTAGGC||R||201
  +
|-
  +
|rs75551567||GCCGCTTTCCACTTGTGTAGCCTTGG [C/G] CAACGGACTGCACTTCTCTGGATCT||S||201
  +
|-
  +
|rs284648||CTAGATCAGGCTACAGGCCCCGGAGG [A/G] CAGGAAGGGGCTCCGATTCCTTGTT||R||201
  +
|-
  +
|rs118080024||ATATTTCTTTTTTTTTTTTTTTTTTA [C/T] TTTTGAGATGGAGTTTTGCTCTTGT||Y||201
  +
|-
  +
|rs116309564||CATCTCTGCGCCTGGCTCTCTACCAC [C/T] TCTGGTCTTTGTTTCCTGGAGTTTG||Y||201
  +
|-
  +
|rs79955062||GGATTTGTATTATGTCCATTCAAAAG [C/T] ATGTGTCAGAAAATACCAGTAAACC||Y||201
  +
|-
  +
|rs116023298||GAAAGAAGAGAACAGGTCCCTGTCAC [A/C] GGCTGCATAGGGCCTTGTATTTCTT||M||201
  +
|-
  +
|rs117607126||CGCCTGGCTAATTTTTGTATTTTTGG [C/T] AGGGACGAGGTTTCACCATGTTGTC||Y||201
  +
|-
  +
|rs115930134||TATAGGGATCAGAAGAGAGCTGGTCT [A/G] TATGCCTAGAGGGCATCCTGCAGTG||R||201
  +
|-
  +
|rs116221568||TAATAGGGTTTCCACAAGGCTGGGGC [A/G] TGGCCCTAACCTTCCCTCTGGGTCC||R||201
  +
|-
  +
|rs114587707||AGCCCCGAATCTAGCCTACGTGAGTG [C/G] CGGACCGCTGAGTGGTTGTTAGCCA||S||201
  +
|-
  +
|rs117815282||AGGCGTAAGCCACTGCCCAGCATCCC [C/T] ACCTTTTTTTTTTTTTTTTTAAATT||Y||201
  +
|-
  +
|rs111259136||GCGCCGGGCTGGGCCATCCTCCTGGG [C/T] GTCCGCACGTGGCTTAGCGTTTACC||Y||201
  +
|-
  +
|rs75448330||TCCACCTGCTTGCCCACACCAGAAAC [C/G] TCATCTCATCCCTGTCTCCTCCCTC||S||201
  +
|-
  +
|rs115695485||CCAGGCTTTCTTCTCTTGCCTTGGAG [C/T] CTTGGTTTTTCCCTAGGACTGAAGT||Y||201
  +
|-
  +
|rs13343330||CGAGGCCATGACCTACAGGTGCCTGC [C/T] GCTCCCCCCGTCAGCACCCCCACAG||Y||201
  +
|-
  +
|rs112835313||CCAGCTAATTTTTTTTTTTTTTTTTA [G/T] ATAGAGTCTCACTCTTGTCACCCAG||K||201
  +
|-
  +
|rs111992248||CTCTATAGGTAAGACTTGCCCTAATC [-/TTTT] TTTTTTTTTTTTTTTTGACTTGCCC||N||201
  +
|-
  +
|rs115099615||TCCCTTTGAGCATTTATAGGCTTCTC [A/G] CAGGTCTCCTGGGCTTTCTCAGCCA||R||201
  +
|-
  +
|rs10407077||TCCACTCCTCCTTCCCTAGTTCATCC [C/T] CCATCCTCCCTCCTGACCCCCACTC||Y||201
  +
|-
  +
|rs77637491||TCCTGTTTCTATCTGTTACATATGCA [C/G] CACAGCCACATCTTGTGTGGATTTG||S||201
  +
|-
  +
|rs115611992||GGGGGACTCAACTCTTTGCTCTGTTT [C/G] AGGGCAGAGTGCCTTTGAGCTCAGG||S||201
  +
|-
  +
|rs78878158||CTCTAAAATACTCAGCGGCCAGGGCG [C/G] CTGCCACTCTTCACCCCTGCTCCTC||S||201
  +
|-
  +
|rs10410801||ATCCAGTCAAGCCAGTGTCAACAAAG [A/C] GGGAAGTTATTGACTCCAATGACCA||M||201
  +
|-
  +
|rs114054661||TTGGCCTCCAAAAGCATGAGCCACTG [C/T] GCCTAGCCTTTTCTTTTTTTGAGAC||Y||201
  +
|-
  +
|rs114855860||AGGTGGATGCCATCCCCACGAGGGCA [C/T] GCAGGTTCACAGAGACTGGCTCCTG||Y||201
  +
|-
  +
|rs78460242||TAATGTTTTGATTTTTTTTTTTTTTT [G/T] TAGAAGCGAGGCCTCACCATGTTGC||K||201
  +
|-
  +
|rs117138963||TTTCACCTCCCTTCCTGTCTCTGTTA [A/T] CATAGCAGACGTTTTAGTGCTCAGG||W||201
  +
|-
  +
|rs117316804||AAATACACGAAGTTCCTGCCATGTGC [C/T] GGTGCCACTCCAAGTGCAGGGAACA||Y||201
  +
|-
  +
|rs9710116||GTCTGGCACTTGGTCAGCCACAGGAG [C/T] TGAGGTCCTGAGCACTCAGCCTTGC||Y||201
  +
|-
  +
|rs75381316||CCTAGTATCAGGGACAAGGATCCAGT [A/C] AAGCCAGTGTCAACAAAGAGGGAAG||M||201
  +
|-
  +
|rs11671665||AAGATTTCCAGACACCAGGCAGCAAG [C/T] TGGGCCCCCGCCAGCTGTGCTGAGC||Y||201
  +
|-
  +
|rs118107394||ATGGACCAGAGGATGTGAGGGGGGAG [A/C] TGTGTGGTGTCTTGAGGCAGGTGTG||M||201
  +
|-
  +
|rs78570624||CGAACTCCTGACCTCAAGTGAGATTC [C/G] CCTGCCTCTGCCTCCTAAAGGCAGT||S||201
  +
|-
  +
|rs75018879||CCAGTGGTGTTGCCTCATTGAGGCAC [C/G] TCCCCCATCCATGTGAGGCAGGAGA||S||201
  +
|-
  +
|rs75757179||AGAGATGCAGTGAGGTAGCGGTGGGG [A/G] TGTATTTCTCAACCCAGCGCAATGA||R||201
  +
|-
  +
|rs78812877||GAGTGGTTAATTCCTTGCCAAGGCCC [C/T] GCAGGAGGAAGCAGGGTCCTGCATG||Y||201
  +
|-
  +
|rs116080069||CTGTCTCTGCCTTCCTGGGATTGTGG [C/T] GTGTGTGGGAGACAGACACGAAACA||Y||201
  +
|-
  +
|rs76383353||CGCTAGAACTGTGGACAGCTTGTTCA [C/T] TGCAGTTAAAGGAAGACGGAGGGAC||Y||201
  +
|-
  +
|rs7258787||TGTAGTCCAGAAGTTGTAAATTAGTG [G/T] TCTATGCTGTTATTTGGTTCATAAT||K||201
  +
|-
  +
|rs16975216||CCTAGCTAGTGGGGTGAATAGAGTCC [A/C] TACCCTGTTGGAAGTCAGGAAGCCC||M||201
  +
|-
  +
|rs75452443||GTTAGGGGATTTGGGAGAAGGGAACT [G/T] GGCACTGGTGTGGCCAGCTGACAGG||K||201
  +
|-
  +
|rs74512011||GCAAGGGAGGCCAGGGACCTGAGTGC [G/T] TGTCTTTTTGAGGCTCAGGTTAGGG||K||201
  +
|-
  +
|rs112502758||TGGTGCAGGGTTTTTGTTTTGTTTTG [-/T] TTTTTTGTTTTTTCGAGGTGGAGTT||N||201
  +
|-
  +
|rs78812076||GAGGGTGGAGGGAAGGGACAGAAACT [A/G] ACCTTGGAGATGGGGAGAAGAAAGG||R||201
  +
|-
  +
|rs75694368||CCCCTGATAAATCCTAGTATCAGGGA [A/C] AAGGATCCAGTCAAGCCAGTGTCAA||M||201
  +
|-
  +
|rs114910270||CTAATCTGCACGCCTTTCCCTTCTCA [C/T] GAGATATTCTGGGAAGGGGGACTCA||Y||201
  +
|-
  +
|rs284650||CACTTCAAATACACGAAGTTCCTGCC [A/G] TGTGCCGGTGCCACTCCAAGTGCAG||R||208
  +
|-
  +
|rs57341563||GTGGGGCAGGAGGTGGGCAGGACTGG [A/G] GCAGGCTAGGGAAAGGTCATTTATG||R||223
  +
|-
  +
|rs55748223||TCACTTTTTTTTTTTTTTTTTTTTTT [-/T] GAGCAGTTCATATCCTCCACAGCTG||N||223
  +
|-
  +
|rs4802116||TGTTTTTTCCCCTTTATTTCTCCCAC [C/T] TGTTCTTTctctcttcttctttctt||Y||226
  +
|-
  +
|rs56189158||AACTCTTTGCTCTGTTTGAGGGCAGA [A/G] TGCCTTTGAGCTCAGGAGAGAGTGG||R||247
  +
|-
  +
|rs10426536||tatcactttgttgcccaggctggagt [A/G] caatggtgcagtcatggctcactgc||R||250
  +
|-
  +
|rs111855817||TGCCCTCCTGCTGCTGCGGCAGCCTG [A/G] GGCTCGGGGACTGGCTAGATCTGTG||R||251
  +
|-
  +
|rs3810175||TGTCTCTTGATCGAATATCAAGACAG [A/G] GAATTCGTGTGTTCTGGACACTGTA||R||251
  +
|-
  +
|rs3810174||AGGCTCCTTGGAGGAACAGGGGAAGA [C/T] CGCAAGACCTTCTCCCTCAGGGTTT||Y||251
  +
|-
  +
|rs71334984||TTTTGAGATGGAGTCTCGCTCTGTTG [-/C] CCCAGGCTGGAGTGCAGTGGCGCGA||N||251
  +
|-
  +
|rs76230844||TTTTTTGACTTGCCCTAATCTTAGGG [A/G] TATTTACTTGTGTGGAGAGATGCAG||R||251
  +
|-
  +
|rs28940288||ACTTCGGCGAGGGGGCAGCCAGTGAG [A/G] GGGACGCCCATGCCGGCTTCAACTT||R||251
  +
|-
  +
|rs60715253||GGGCCTGTAGCCTGATCTAGGGTTGG [C/T] CTGGGCCCTGGCTTCTTTGCCCTAG||Y||251
  +
|-
  +
|rs111705372||GCACTGGTCCTCACCGATGCCCTTCC [A/G] TGGTGGAACAGGTGCTTCCTTTGGG||R||251
  +
|-
  +
|rs113111906||TTTTTTTTTTTTTTTTTTTTTTTTTT [C/T] TTGGTCTGAGACGGGGTTTCACTCT||Y||251
  +
|-
  +
|rs62117494||CATGGGGTTTCACCATGTTGGCCAGG [A/C] TGGTCTCAGCCTCCCGAAGTGTTGG||M||251
  +
|-
  +
|rs62117493||AGACAGCATGTTGCTCTGTTGCCCAG [A/G] CTGGAGTGCAGTGGTGTGATCATGG||R||251
  +
|-
  +
|rs62117495||TTTGTAGCCCAGATTGGAGTGCAGTG [A/G] CACGATCTCAGCTGCCTGCAGCCTT||R||251
  +
|-
  +
|rs73931473||TTCTGATTTTAAAATGAATTGTGTAA [A/G] AAATTTGTTTGATTCCTGTGTCTCT||R||251
  +
|-
  +
|rs73931479||CCCCTACCTGTGTTTGGGCCAAAGGA [A/G] TGGCTCCCAAGGAGGACAGATTCTT||R||251
  +
|-
  +
|rs73931475||AGGTGAGGTCTGAACTTGGAGCTCTG [C/G] ACTCCAAAACCCAGTTTCTTTTCAT||S||251
  +
|-
  +
|rs73931477||AGACTCTGGCCTCCCCTCTTAGTGCC [C/T] GTCTGAAGACTTCAGCCTTCGGTCC||Y||251
  +
|-
  +
|rs137852872||GCCCAAACCCAACCCCAACCTACTCT [G/T] CTCAGACGTGTATCAGGAGATGCCC||K||251
  +
|-
  +
|rs137852873||TTGAGTGCCCCATCATCTTCTTCTGC [C/T] GGAACAATGGCTACGCCATCTCCAC||Y||251
  +
|-
  +
|rs137852870||GCCACCTGCAGACCTACGGGGAGCAC [A/T] ACCCACTGGATCACTTCGATAAGTG||W||251
  +
|-
  +
|rs137852871||GTGTCCCCACAGCAGCACGAGGCCCC [A/G] GGTATGGCATCATGTCAATCCGCGT||R||251
  +
|-
  +
|rs137852876||CTTGAGTGCCCCATCATCTTCTTCTG [C/G] CGGAACAATGGCTACGCCATCTCCA||S||251
  +
|-
  +
|rs137852874||CAGCCAGTGAGGGGGACGCCCATGCC [A/G] GCTTCAACTTCGCTGCCACACTTGA||R||251
  +
|-
  +
|rs137852875||TGATGTGTTTGCCGTATACAACGCCA [C/G] AAAGGAGGCCCGACGGCGGGCTGTG||S||251
  +
|-
  +
|rs71181107||TCATAATGATGATTTTTTTTTTTTTT [-/T] CGAGACAGGGTCTTGCTTTGTAGCC||N||251
  +
|-
  +
|rs7257117||AGCCAAGCCAGCCGGGTGTGGTGCAC [C/T] GTAGGGGTGGCTGGGGTCCGTCACT||Y||251
  +
|-
  +
|rs71181106||TTTTTTGTATTTTTAGTAGAGGCGGG [-/G] TTTCACCATGTTAGCCAGGATGGTC||N||251
  +
|-
  +
|rs71181108||CTCCTGACCCCCACTCCAGGGAGCCC [-/C] ACACTGACCTGGGGCCCCTTGCCCC||N||251
  +
|-
  +
|rs71181105||AGGGTTTTTGTTTTGTTTTGTTTTTT [-/T] GTTTTTTCGAGGTGGAGTTTTGCTC||N||251
  +
|-
  +
|rs3786553||CCTCCACCCTCCCACCCCCACCCCCC [A/C] CACACACACCCTCTAGGTCCTTGCA||M||251
  +
|-
  +
|rs11879090||GTGCTTCCTGGAGTGCTCCAGGGGAC [C/T] GCCCTAGGCCCATGTGAAATGGGCT||Y||251
  +
|-
  +
|rs8108664||TTGAGGCGGCGCCTCAGCTACCACCT [A/G] TCTTTGATGGAGTTATGATAACAGT||R||251
  +
|-
  +
|rs112381655||GCGCCGAGCCCACGTGCGGCTGCAGT [A/T] GTCACTTCCGCCTGGCAGCGCGCGC||W||251
  +
|-
  +
|rs61737367||TCCACGCCCACCTCTGAGCAGTATCG [C/T] GGCGATGGCATTGGTATGGGCTCTG||Y||251
  +
|-
  +
|rs59777247||CATTGAATACCCTGCTGCCCTGCAGA [C/T] GTGTTTGCCTGATTTTCACCTCCCT||Y||251
  +
|-
  +
|rs73047262||TTTTCTCTCTCTCTTTCTTTCTGTAC [C/T] TCTCTTTCCTTTTTCTTTTTTTTTC||Y||251
  +
|-
  +
|rs112929552||CCGCTTTCCACTTGTGTAGCCTTGGC [A/C] AACGGACTGCACTTCTCTGGATCTA||M||251
  +
|-
  +
|rs111838742||CAGAGCAAGACTATCTCTTAAAAAAA [A/G] AAAAAAGCTGGTTTGAGGATTAGGT||R||251
  +
|-
  +
|rs73931480||CAGGGTTAGGACTCTGGAGGGGGCAG [A/T] CTTCCCACTCTGAAGGCCAGAAAGT||W||251
  +
|-
  +
|rs73931484||GCAGACAGGATGGGGGTGGGGGGGTC [C/T] TCCAGAGATGGTCTCCTGCTCTCTC||Y||251
  +
|-
  +
|rs73931482||CTAGTAAGGAGGCTGCTCAGTAACTT [C/G] GGCTTGACCAGGGTGGTGCAGAGGA||S||251
  +
|-
  +
|rs73931483||CTGGTTCTCGTCCTGTGTCCTGTGGC [A/G] TCTGGCACTTGGTCAGCCACAGGAG||R||251
  +
|-
  +
|rs10425437||gctttgtagcccagattggagtgcag [C/T] ggcacgatctcagctgcctgcagcc||Y||255
  +
|-
  +
|rs17173144||TTGTTAGCCAAGATGGCGGTAGCGAT [C/T] GCTGCAGCGAGGGTCTGGCGGCTAA||Y||260
  +
|-
  +
|rs2241711||ATTCAGTGAGCTATGCAAAGGGCTCC [A/G] CGCTGTGCCTGGTCCTGAGGAAATG||R||268
  +
|-
  +
|rs11672345||AGAGACTGGCTCCTGTCCAAGGCCGC [A/G] TGGCTGGAAAGAGACAGAACCAGAT||R||282
  +
|-
  +
|rs10413735||GTCTACTGCTCACAGCTGGACCAGGC [C/T] CTTGGCCCCACATGCTCTAGGAGGG||Y||301
  +
|-
  +
|rs34956071||TAGGTGTGCTGATGTATCGGGACTAC [C/T] CCCTGGAACTATTCATGGCCCAGTG||Y||301
  +
|-
  +
|rs3213861||TAGAAGGAGATCCGGCCCTGGGGGTG [G/T] AGAGGGGACCGGGGTCCCACAATTG||K||301
  +
|-
  +
|rs3213860||GGGAAGACTGCCCCCTCCAGAGTCCT [A/G] ACCCTGGCTTGTCTCTTTCTTGCTT||R||301
  +
|-
  +
|rs35521052||TCAGCGGCAGGTGCGTGGGGACAGGA [-/C] TAGGGGCGGGGGGCTGGAATTACCT||N||301
  +
|-
  +
|rs35085046||GGGCAACGAGAGCAAGACTCCATCTC [-/A] AAAAAAAAAAATTAGCCAGGCGTGG||N||301
  +
|-
  +
|rs35214178||GGCTGCCTAGCTCCAGAGCTAAGAGT [-/C] CCCAGTGGGTTCATATCCCTTTGAG||N||301
  +
|-
  +
|rs35024134||CAACCTCCTGAGTAGCTGGGACTATA [-/G] GGTGCGTGCCACCACGCCTGGCTAA||N||301
  +
|-
  +
|rs34589432||CCTCTGCTCTCTTCCCCAGCACCCCC [A/C] CAGGCAGCAGCAGCAGTTTTCATCT||M||301
  +
|-
  +
|rs34978824||GTCCCTTCCCTTATAAGAGCTTTTTT [-/G] GGGAAGCAAACCCACTGGGTGCCAG||N||301
  +
|-
  +
|rs35487663||GCGTGGCCCTAACCTTCCCTCTGGGT [-/C] CCCTGCTAAGTCACTTCAAATACAC||N||301
  +
|-
  +
|rs3217386||CTTCCCTCTACTTCCTGCCTGGAAGA [-/G] CCCCCTGGATCTAGCTGTGCCCCAA||N||301
  +
|-
  +
|rs3217385||GGCAAGGGGCCCCAGGTCAGTGTGGG [-/G] CTCCCTGGAGTGGGGGTCAGGAGGG||N||301
  +
|-
  +
|rs12983789||TCCTAACTCTGGCAACGCCATTGGAC [A/T] TTTGGGAACAGAAGGCAGGCCTTGG||W||301
  +
|-
  +
|rs34500671||TCTGGCCGCGACAGCAGGTTCTGTTC [C/G] CAGGCAAAGTGCCGGAGGCTGCAGC||S||301
  +
|-
  +
|rs34492894||GTGTATCAGGAGATGCCCGCCCAGCT [C/T] CGCAAGCAGCAGGAGTCTCTGGCCC||Y||301
  +
|-
  +
|rs36050387||GGGTCCTCCAGAGATGGTCTCCTGCT [-/G] CTCTCACAGAATGGGAGAAGCCTGC||N||301
  +
|-
  +
|rs284654||CAGTGATCGATATGAGGAAGATGCTA [C/T] GGTGGCTGTCAGTGCTGTGGGGGTG||Y||301
  +
|-
  +
|rs284655||GGGGAGATGCAACATCAGGTGATAAG [A/G] CCATGTTTTGGAGACAGTGATCGAT||R||301
  +
|-
  +
|rs284652||CACCTGTAGGTCATGGCCTCGATGAG [A/G] AAGGGCTGGTTCTCTGCCACAGCCC||R||301
  +
|-
  +
|rs284653||CTATGGTGGCTGTCAGTGCTGTGGGG [A/G] TGCTGACGGGGGGAGCGGCAGGCAC||R||301
  +
|-
  +
|rs4674||ATCTCCTGATACACGTCTGAGAAGAG [C/T] AGGTTGGGGTTGGGTTTGGGCTTCC||Y||301
  +
|-
  +
|rs6508977||CTGGATGCCTTATGGGTTCAGTGAGC [A/G] CATAGGTGTAAATAAAGTGCTTTGA||R||301
  +
|-
  +
|rs34391204||AAATTTTTCAGAGACGGGGGTTTTGC [C/T] TAGGCTGGACTCACTATGTTGCCTA||Y||301
  +
|-
  +
|rs284649||ATGCATCTCAGCTGCCCTAGGGCAAA [A/G] AAGCCAGGGCCCAGACCAACCCTAG||R||301
  +
|-
  +
|rs34541442||TAGCGATCGCTGCAGCGAGGGTCTGG [A/C] GGCTAAACCGTGGTTTGAGCCAGGC||M||301
  +
|-
  +
|rs34933875||ACAGGCGTGAGCCACCATGCCTGGCC [-/T] TTTTTTTTTTTTTTTGAGGTGGAGT||N||301
  +
|-
  +
|rs12459859||ACTTTAGTCCCGGCAGTTGCTGCCTG [C/T] GGGAGATTGAGACCTCTGTTAACAG||Y||301
  +
|-
  +
|rs34919809||TTGTGTGTTCAGTGTTTGTCATTCAT [-/C] CCCTCCCTGTCTCTAGCCTTCAGTT||N||301
  +
|-
  +
|rs10409485||CGAGCACTGATAGGGCCAGGAAGGCA [C/T] ATCTTAACCCTTTGTCTTAGATGCT||Y||301
  +
|-
  +
|rs10853751||TGGGCTCGGCGCGATGGAGGAGGAGA [C/T] GCATACTGACGCCAAAATCCGTGCT||Y||301
  +
|-
  +
|rs34107638||CCTCTGGGTCCCTGCTAAGTCACTTC [-/A] AAATACACGAAGTTCCTGCCGTGTG||N||301
  +
|-
  +
|rs35547143||TTATCTTCAATTTGAGGAGTATTTAC [-/T] GTGGGTGAAAGATCCGCCACAGTCC||N||301
  +
|-
  +
|rs34169026||GGCCGCGACAGCAGGTTCTGTTCGCA [A/G] GCAAAGTGCCGGAGGCTGCAGCCAG||R||301
  +
|-
  +
|rs34442879||GGGGAGTGCCGCCGCCCTGGACAACA [C/T] GGACCTGGTGTTTGGCCAGTACCGG||Y||301
  +
|-
  +
|rs4803465||ggcgtgctcctttgcctcacctagtc [C/T] gtttctcagtgaagagcaccaccat||Y||303
  +
|-
  +
|rs2241706||tagtgagtccagcctaggcaaaaccc [C/T] cgtctctgaaaaatttttaaattag||Y||320
  +
|-
  +
|rs10408639||gaagcctcacaaacatggcggaaggc [A/G] aatgaggagcaaagtcacatcttac||R||328
  +
|-
  +
|rs13346233||GCCCCACATGCTCTAGGAGGGCAAAC [A/G] CCCTGTGGTGTTTGTCTAAGGTCTA||R||337
  +
|-
  +
|rs10414106||ACTGTCTACTGCTCACAGCTGGACCA [A/G] GCCCTTGGCCCCACATGCTCTAGGA||R||337
  +
|-
  +
|rs284658||ACGGGCCCTGGGTCCTAATGACCGGG [C/T] CAGGGAGGGTGGCACACTGACTCTG||Y||344
  +
|-
  +
|rs11670583||ACGTTCGCTGTGGGTGTGGCCTGTGC [A/T] GGAGACCCTGTCTGCCTGGTGCAGT||W||349
  +
|-
  +
|rs59991538||ACAGACCTGAGTGCGGTGCAAGATTA [C/G] AGGGGCCCGGCAAGCCCAGATGAGT||S||349
  +
|-
  +
|rs11670668||TGTGGCCTGTGCAGGAGACCCTGTCT [C/G] CCTGGTGCAGTGATCCCCTGGCCCC||S||349
  +
|-
  +
|rs58786677||CATACAAAAATTAGCTTGGCATGGTG [A/G] TGCACACCTGTAATCCTAGCTACTC||R||350
  +
|-
  +
|rs1967333||aaaaaaaaattagccaggtgtggtgg [C/T] gtgcacctgtggtcccagctattca||Y||354
  +
|-
  +
|rs2241707||ccaggaaggctgggcgtggtggctca [C/T] gcctgtaatcccagcactttgggag||Y||370
  +
|-
  +
|rs12982607||CCTGTAATCCCAGCACTTCGGGAGGC [C/T] GAGGCGGGAGGATTGCTTGAGCCCA||Y||384
  +
|-
  +
|rs57372161||GTAATCCCAGCACTTCGGGAGGCTGA [G/T] GCGGGAGGATTGCTTGAGCCCAGGA||K||387
  +
|-
  +
|rs3061207||TCTGATGTAAtttttttttttttttt [-/TTTT] tttgagacagggtctcactttgtcc||N||388
  +
|-
  +
|rs10424533||tgttttgatttttttttttttttgta [A/G] aagcgaggcctcaccatgttgctca||R||390
  +
|-
  +
|rs2288871||CATGTGTTCCCAGGCCTGGCTTTCCC [A/G] TTGCTGTGGGGGAAACTGATGAATG||R||394
  +
|-
  +
|rs10418291||CTCATTCCCTCTGTCTGTAGATAttt [C/T] ttttttttttttttttttacttttg||Y||397
  +
|-
  +
|rs67617298||GCGTGCCACCACGCCTGGCTAATTTT [-/T] GTATTTTTAGTAGAGATGGGGTTTC||N||401
  +
|-
  +
|rs35668703||GAGCAAGACTCCATCTCAAAAAAAAA [-/A] AATTAGCCAGGCGTGGTGGTGCGTG||N||401
  +
|-
  +
|rs11300069||AAGTGAGATCCTGTCTCAAAAAAAAA [-/A] AAAAGGAAATTGAAGTCAAAGAGGG||N||401
  +
|-
  +
|rs72026304||CGTTTAAGCCATTGTGCCCAGCCCAC [-/TTTTTTTTTTTTTTTTTTTTTTTT] TTTTTTTTTGGTCTGAGACGGGGTT||N||401
  +
|-
  +
|rs66703155||TTGGGGCACAGCTAGATCCAGGGGGT [-/C] CTTCCAGGCAGGAAGTAGAGGGAAG||N||401
  +
|-
  +
|rs72108665||CAAGCCAGACTCTGTCTCAAAAAAAA [-/AAA] AAAAAAAAAAAAAAGGTAACTGCTG||N||401
  +
|-
  +
|rs67015245||GATGTAATTTTTTTTTTTTTTTTTTT [-/TTTT] GAGACAGGGTCTCACTTTGTCCCCC||N||401
  +
|-
  +
|rs72119198||GATATTTCTTTTTTTTTTTTTTTTTT [(LARGEDELETION)/-] TTTTTTTTTTTTTTTTTTTTTTTTT||N||401
  +
|-
  +
|rs16980932||ATTGGAGAAAATTTTGGGTAGATAGA [-/T] TTTTTTTTCTCCAAATCTCTGTGCA||N||401
  +
|-
  +
|rs66596854||CAGGCGTAAGCCACTGCCCAGCATCC [-/AGCATCC] CCACCTTTTTTTTTTTTTTTTTAAA||N||401
  +
|-
  +
|rs67557049||GGAGACCTTTTCACTTTTTTTTTTTT [-/T] TTTTTTTTTGAGCAGTTCATATCCT||N||401
  +
|-
  +
|rs66801847||CATAATGATGATTTTTTTTTTTTTTC [-/T] GAGACAGGGTCTTGCTTTGTAGCCC||N||401
  +
|-
  +
|rs10709558||ccgctttccacttgtgtagccttggc [-/C] aacggactgcacttctctggatcta||N||401
  +
|-
  +
|rs892044||GTAGGCTAGATTCGGGGCTGCCTCTT [C/T] ATGTGCCTGACGCAAACTCCAGCAC||Y||401
  +
|-
  +
|rs3214612||CCTCAAGACACCACACAGCTCCCCCC [-/C] TCACATCCTCTGGTCCATACTTCAG||N||401
  +
|-
  +
|rs3214613||TAGATCCAGAGAAGTGCAGTCCGTTG [-/G] CCAAGGCTACACAAGTGGAAAGCGG||N||401
  +
|-
  +
|rs72405314||TCCTGACCCCCACTCCAGGGAGCCCA [-/C] CACTGACCTGGGGCCCCTTGCCCCT||N||401
  +
|-
  +
|rs66828714||GTTATTTGGTTCATAATGATGATTTT [-/T] TTTTTTTTTTCGAGACAGGGTCTTG||N||401
  +
|-
  +
|rs72095217||AGCCAAAGTGAGATCCTGTCTCAAAA [-/A] AAAAAAAAAGGAAATTGAAGTCAAA||N||401
  +
|-
  +
|rs72343230||AGCCCAGTTCTGATGTAATTTTTTTT [-/TTTT] TTTTTTTTTTTGAGACAGGGTCTCA||N||401
  +
|-
  +
|rs34447852||TGTGTGAGAGACAGCAAGTGAATGGG [-/A] AAAAAAAAAGTGCAGGAGCCTGGCC||N||401
  +
|-
  +
|rs67530835||TAGGATTACAGGCGTAAGCCACTGCC [-/AT/CCAGCAT] CAGCATCCCCACCTTTTTTTTTTTT||N||401
  +
|-
  +
|rs11437195||TGGTGGGTGGGGGTGCAGATGGTGCA [-/G] GGTTGGGTGGGGCCTCAAGGCCTTT||N||401
  +
|-
  +
|rs67031414||GCAAGACTCCATCTCAAAAAAAAAAA [-/A] TTAGCCAGGCGTGGTGGTGCGTGCC||N||401
  +
|-
  +
|rs66865572||CAAGACTCCATCTCAAAAAAAAAAAT [-/A] TAGCCAGGCGTGGTGGTGCGTGCCT||N||401
  +
|-
  +
|rs5828106||taattttttgtatttttagtagaggc [-/G] gggtttcaccatgttagccaggatg||N||401
  +
|-
  +
|rs11307062||CTCTAGCCAAAGTGAGATCCTGTCTC [-/A] AAAAAAAAAAAAAGGAAATTGAAGT||N||401
  +
|-
  +
|rs5828107||agagcaagactccatctcaaaaaaaa [-/A] aaattagccaggcgtggtggtgcgt||N||401
  +
|-
  +
|rs71960526||TGTCTGTAGATATTTCTTTTTTTTTT [-/TTTTT] TTTTTTTTACTTTTGAGATGGAGTT||N||401
  +
|-
  +
|rs11313402||TGCCTTTGGGCTGGAGACCTTTTCAC [-/T] TTTTTTTTTTTTTTTTTTTTTGAGC||N||401
  +
|-
  +
|rs892043||TCACGTAGGCTAGATTCGGGGCTGCC [C/T] CTTTATGTGCCTGACGCAAACTCCA||Y||401
  +
|-
  +
|rs10565264||tcaccctctaagggattttttttttt [-/TTT] tttttttttgagatggagtctcact||N||401
  +
|-
  +
|rs284651||GAGGGTAGGGGTGGCAGGAAGGTGGC [A/G] GGATTGGGGAGGGAAGGAGATGATC||R||401
  +
|-
  +
|rs66838098||TCTCAAAAAAAAAAAAAAAAAAAAAA [-/AAA] GGTAACTGCTGTGTGTAATGTGATC||N||401
  +
|-
  +
|rs33988947||AATTTTTTGTATTTTTAGTAGAGGCG [-/G] GGTTTCACCATGTTAGCCAGGATGG||N||401
  +
|-
  +
|rs67118441||GCCCAGTTCTGATGTAATTTTTTTTT [-/TTTT] TTTTTTTTTTGAGACAGGGTCTCAC||N||401
  +
|-
  +
|rs67456786||CCCTCCTGACCCCCACTCCAGGGAGC [-/C] CCACACTGACCTGGGGCCCCTTGCC||N||401
  +
|-
  +
|rs72316851||ATATTTCTTTTTTTTTTTTTTTTTTA [-/TTTTTTTTTTTTTTTTTTTT] CTTTTGAGATGGAGTTTTGCTCTTG||N||401
  +
|-
  +
|rs67742179||CCAAAGTGCTGGGGTTACAGGCGTGA [-/G] CCACCATGTGTGGCCGGGCAGGTGA||N||401
  +
|-
  +
|rs66601221||TGCCCTAATCTTTTTTTTTTTTTTTT [-/TTTT/TTTTTT] GACTTGCCCTAATCTTAGGGATATT||N||401
  +
|-
  +
|rs67955137||GGTGGGTGGGGGTGCAGATGGTGCAG [-/G] GTTGGGTGGGGCCTCAAGGCCTTTG||N||401
  +
|-
  +
|rs71922487||CCCAGTTCTGATGTAATTTTTTTTTT [-/TTTT] TTTTTTTTTGAGACAGGGTCTCACT||N||401
  +
|-
  +
|rs10712417||AAATTTTGGGTAGATAGATTTTTTTT [-/AAACA/T] CTCCAAATCTCTGTGCATTCTATCT||N||401
  +
|-
  +
|rs72299612||GGGCAACAAGAGCAAAACTCCGTCTC [-/A] AAAAAAAAAAAAGAAAGAAAATTAG||N||401
  +
|-
  +
|rs45500792||AGAGGCAGCCCCGAATCTAGCCTACG [G/T] GAGTGCCGGACCGCTGAGTGGTTGT||K||401
  +
|-
  +
|rs72449807||GGTGCGTGCCACCACGCCTGGCTAAT [-/T] TTTTGTATTTTTAGTAGAGATGGGG||N||401
  +
|-
  +
|rs72428261||TATGGACCAGAGGATGTGAGGGGGGA [-/G] GCTGTGTGGTGTCTTGAGGCAGGTG||N||401
  +
|-
  +
|rs71866052||AGCCAGACTCTGTCTCAAAAAAAAAA [-/AA] AAAAAAAAAAAAAGGTAACTGCTGT||N||401
  +
|-
  +
|rs66517057||CTGAAGTATGGACCAGAGGATGTGAG [-/G] GGGGGAGCTGTGTGGTGTCTTGAGG||N||401
  +
|-
  +
|rs58057017||TTTTTTGACTTGCCCTAATCTTAGGG [-/A] TATTTACTTGTGTGGAGAGATGCAG||N||401
  +
|-
  +
|rs11307304||TTCACTTTTTTTTTTTTTTTTTTTTT [-/T] GAGCAGTTCATATCCTCCACAGCTG||N||401
  +
|-
  +
|rs66530612||ATATCACCCTCTAAGGGATTTTTTTT [-/TT/TTT] TTTTTTTTTTTTGAGATGGAGTCTC||N||401
  +
|-
  +
|rs11670757||CTGGCTATGCTGGGTACTCAGAAGGG [G/T] GAAGCACTGTGCTGCAAGAGGCCGG||K||404
  +
|-
  +
|rs11670725||CCTGCTGTGAAGGCAACCTGGACGCT [C/G] TCTCTGCCTTCCTGGGATTGTGGTG||S||404
  +
|-
  +
|rs28374474||GATATTTCTTTTTTTTTTTTTTTTTT [A/T] CTTTTGAGATGGAGTTTTGCTCTTG||W||416
  +
|-
  +
|rs59885702||GATATTTCTTTTTTTTTTTTTTTTTT [-/TTTTT/TTTTTTTTTTTTTTTTTTT/TTTTTTTTTTTTTTTTTTTT] ACTTTTGAGATGGAGTTTTGCTCTT||N||416
  +
|-
  +
|rs10418669||ttttttttttttttttttacttttga [A/G] atggagttttgctcttgttgcccag||R||424
  +
|-
  +
|rs57096317||GGGTGGCTGGGGTCCGTCACTGGAGT [A/G] ACACTGAAGTATGGACCAGAGGATG||R||427
  +
|-
  +
|rs11437196||GTATGGACCAGAGGATGTGAGGGGGG [-/G] AGCTGTGTGGTGTCTTGAGGCAGGT||N||462
  +
|-
  +
|rs12709849||gttgcccaggctggagtgcaatggca [C/T] gatcttggctcaccgcctccctggt||Y||467
  +
|-
  +
|rs11883104||TGAGCCAAGATTGCGCCATTGCATTC [C/T] GGGCAACAAGAGCAAAACTCCGTCT||Y||476
  +
|-
  +
|rs10409251||cacccccataattcaattacctccca [C/G] tggctccttcccacaacatgtggga||S||483
  +
|-
  +
|rs59076804||GAGATCCTGTCTCAAAAAAAAAAAAA [-/A] GGAAATTGAAGTCAAAGAGGGAAGT||N||488
  +
|-
  +
|rs4803466||TCGTTCCCTTTGTTATCTGGGTGCCA [C/T] CTCCTCTCCCTCCTCATCTTTCCCC||T||500
  +
|-
  +
|rs4803467||aggttcaggtgattctcctgcctcag [A/C] ctccggagtagctggaattaaaggc||M||501
  +
|-
  +
|rs4803469||GAGGTTCAAGACTGCAGTGAGCTATG [A/C] TTCCACCACCGAACTCCAGTTTGGG||M||501
  +
|-
  +
|rs10420556||aagtgattctcctgcctcagcctccc [A/G] aatagctgggactactggcgtgcgc||R||501
  +
|-
  +
|rs4803468||AAGCCAGGTAAGAACCTGAGTCAACA [A/G] AGGTGAGGTCATGGGCCCAGGCCAC||R||501
  +
|-
  +
|rs4803462||CCTTGAATGTGCCTCCTCCCACCTGG [A/T] GGCCTTTGTAGGTATGAGGTCCTTC||W||501
  +
|-
  +
|rs10419188||cccccaagtagctgggattacaggcg [C/T] ccaccaccacactcggctaattttt||Y||501
  +
|-
  +
|rs4802117||CAGGTTCAAGCGATTCTCCTGCCTCA [A/G] CCTCCTGAGTAGCTGGGACTATAGG||R||501
  +
|-
  +
|rs4802118||ttttagtagagatggggtttcaccac [A/G] ttggtcaggctggtttcaaactcct||R||501
  +
|-
  +
|rs10405951||tggccTTAAATTTTATTTATATAttt [A/T] tttttgtagagacgaggtctcacta||W||501
  +
|-
  +
|rs12973059||ggcgtgtgcctgtagtcccagctact [C/T] gggaggctgaggcagaagaatcgct||Y||501
  +
|-
  +
|rs60637881||GTGGGTGGGGGTGCAGATGGTGCAGG [-/G] TTGGGTGGGGCCTCAAGGCCTTTGC||N||501
  +
|-
  +
|rs2241708||GCCCCAGCAGATACTCCAGAGAGGGA [A/G] ACTGAGGCACAGGGGAGACGGCATG||R||501
  +
|-
  +
|rs2241709||GAGGGAGACTGAGGCACAGGGGAGAC [A/G] GCATGCTGATGGAAGAGGACCGAAG||R||501
  +
|-
  +
|rs12980966||tgaccaggctggtcttgaactcctga [C/T] ctaaggtgatctgcccgcctcggcc||Y||501
  +
|-
  +
|rs11880951||GAAATAGTCAGGGAAAGGTTGAGAGG [C/G] TGCATATTGTAGACAGATTGGATTA||S||501
  +
|-
  +
|rs10418917||acctggctaattttgtatttttagta [A/G] agatggggtttctccatgttggtca||R||501
  +
|-
  +
|rs12971746||gctgggcgtaatggcgtgtgcctgta [A/G] tcccagctacttgggaggctgaggc||R||501
  +
|-
  +
|rs12980789||actctgtcgcccaggctggagtacgg [G/T] ggcgcagtcttggctcattgcaact||K||501
  +
|-
  +
|rs11880539||TCTTTAGGAAGTGCTCAGCTGCTCAG [A/C] AGCACACTCTGAGACCCAGCCCCAT||M||501
  +
|-
  +
|rs7258973||GACGCCATTCTCCTGCCTCAGCCTCC [C/T] GAGTAGCTGGGACTACAGGCGCCCG||Y||501
  +
|-
  +
|rs61285302||CTGGGATTACAGGCATGCGCCACCAC [A/C] CCTGGCTAATTTTGTATTTTTAGTA||M||501
  +
|-
  +
|rs57114476||AGGGATTTTTTTTTTTTTTTTTTTTT [-/TT] GAGATGGAGTCTCACTGTCACCAGG||N||501
  +
|-
  +
|rs10417311||GGGgctgggcgtggtggctcatacct [A/G] tatgagcactttgggaggaggattg||R||501
  +
|-
  +
|rs10415116||CTGGTTTGAGGATTAGGTGGCAAACC [A/G] TGGTGGAGTGTACATGCCCTGCCCA||R||501
  +
|-
  +
|rs166925||TATGTTTGTGAGCAGACAAATGCAGT [A/G] GGCATGTGGTTGGGAAATCCAGAGT||R||501
  +
|-
  +
|rs10422226||CACCATCATTGTTACTTGTTTAGTGT [C/T] TGCCCTCCCTGCTAGGCAgcaagga||Y||501
  +
|-
  +
|rs59233264||GACAGAGCAGCCCTCTGTCTCAAAAT [A/G] AGATAGCCACAAGTGGTTGGTGGCT||R||501
  +
|-
  +
|rs10411013||gttggccaggctggtctcgaactcct [G/T] gcctcaactgatccacccacctcag||K||501
  +
|-
  +
|rs10554793||ATGGTGCAGGGTTTTTGTTTTGTTTT [-/GTTT] TTTGTTTTTTCGAGGTGGAGTTTTG||N||501
  +
|-
  +
|rs58959515||TTTGCTCTTGTTCCTGTTTTCAAGAG [C/G] AGGATGCCCGTGTTTTGTGTGTGTG||S||501
  +
|-
  +
|rs60285872||TGCCCTAATCTTTTTTTTTTTTTTTT [-/TTTT] GACTTGCCCTAATCTTAGGGATATT||N||501
  +
|-
  +
|rs12327735||ggtgatctgcctgcctcggactccca [A/G] agtgctgggattacaggcgtgagcc||R||501
  +
|-
  +
|rs11666243||CTTACCTGTCAACTTGACACTTTTTT [G/T] TTTTTTTAGGCTAGTCAGGTGAAGC||K||501
  +
|-
  +
|rs12327737||gctgggattacaggcgtgagccacca [C/T] gcccagccttcctggctaatttaaa||Y||501
  +
|-
  +
|rs10416743||CTGGGCTTTCTCAGCCATTCCTCATC [C/T] GACCTGAGGAGGTGTGATGTCCTTG||Y||501
  +
|-
  +
|rs12979462||tttttgaggtggagtctcactctgtc [G/T] cccaggctggagtacggtggcgcag||K||501
  +
|-
  +
|rs58436091||TTTTGCAGAGAGCCACACAATGAGCT [A/G] AGAAATTAGAACCCAGGGCAGTTGA||R||501
  +
|-
  +
|rs59989753||GTCTCCCAAAGTGCTGGGATTACAGG [C/T] GTGAGCCACCACGCCCAGCCTAATT||Y||501
  +
|-
  +
|rs10417997||gaactcctgacctcaggtgagccaca [A/G] gtcttggcctcccaaagtgtgggga||R||501
  +
|-
  +
|rs10422783||gctgggattacaggcataagccactg [C/T] gcctggctgcgcctggctaattttt||Y||501
  +
|-
  +
|rs11083619||TGAACTCCAGAGCCAGGGAACTTAAC [A/C] GCCCATTCATGCATTCACTCAGGAA||M||501
  +
|-
  +
|rs11083618||ttgtatttttagtagagacagggttt [C/T] gccatgttggccaggctggtctcga||Y||501
  +
|-
  +
|rs8102338||tgaactcctgggctcaagcgatcctc [C/T] ctccttggcctcccaaagtgctggt||Y||574
  +
|-
  +
|rs4803461||cGGGCAGGTGATTTTTCTTGTCTTTC [A/G] CCTCTTTCCACTTCAGTCCCCCTGG||R||588
  +
|-
  +
|rs284647||gagaaggaggctgcagtgagctgcga [C/T] agcaccactgcactctagcctgggc||Y||654
  +
|-
  +
|rs1967334||actccagcctgggcaacagagcgaga [C/T] tccatctcaaaaaaaaaaaaggaga||Y||770
  +
|-
  +
|rs284657||ctatctcttaaaaaaaaaaaaaaGCT [C/G] GTTTGAGGATTAGGTGGCAAACCGT||S||821
  +
|-
  +
|rs3816037||TGGGGCTCTGGGCAGCCCTGGCATAC [A/G] GATGGACATGAGATCACACAGGGCC||R||1217
 
|}
  
|}
   

Revision as of 13:52, 15 June 2011

General

Maple syrup urine disease is an autosomal recessive disorder that affects the amino acid metabolism. The disease is caused by a defect in the branched-chain alpha-keto acid dehydrogenase complex which blocks oxidative decarboxylation. The result is a rising concentration of branched-chain amino acids. MSUD is caused by mutations in the gene coding for the alpha subunit of the branched-chain keto acid dehydrogenase(BCKDHA).

HGMD

Searching for "BCKDHA" a total of 39 mutations are reported, comprised of the following mutation types:

  • missense/nonsense: 33 mutations
  • small deletions: 3 mutations
  • small insertions: 1 mutation
  • gross deletions: 1 mutation
  • complex rearrangements: 1 mutation

For us the missense/nonsense mutations are the most interesting ones, as a single nucleotide change can lead to the phenotype of Maple Syrup Urine Disease.

Codon change Amino Acid change Codon number
gCAG-GAG Gln-Glu 80
ACG-ATG THr-Met 106
cCGG-TGG Arg-Trp 114
gTAT-AAAT Tyr-Asn 121
CGG-CAG Arg-Gln 122
cCAG-AAG Gln-Lys 145
ATC-ACC Ile-Thr 168
GCG-GTG Ala-Val 171
GCG-GTG Ala-Val 175
cGGC-AGC Gly-Ser 204
cGCT-ACT Ala-Thr 208
TGC-TAC Cys-Thr 213
cCGG-TGG Arg-Trp 220
AAT-AGT Asn-Ser 222
GGC-GAC Gly-Asp 238
tGCA-CCA Ala-Pro 240
aCGA-TGA Arg-Term 242
cGGG-AGG Gly-Arg 245
cCGC-TGC Arg-Cys 252
CGC-CAC Arg-His 252
tGGT-AGT Gly-Ser 255
GAT-GCT Asp-Ala 257
ACA-AGA Thr-Arg 265
cCGA-TGA Arg-Term 269
ATC-ACC Ile-Thr 281
cGAG-AAG Glu-Lys 282
gGCC-ACC Ala-Thr 283
CGC-CAC Arg-His 301
cCGG-TGG Arg-Trp 318
TTC-TGC Phe-Cys 364
cGTG-ATG Val-Met 367
TAT-TGT Tyr-Cys 368
cTAC-AAC Tyr-Asn 393


dbSNP

results for the SNPs search with BCKDHA:

-all: 742

-human: 371

SNPs in human

ID mutation in sequence amino acid position
rs61736656 ATTACTGGGATAAACAGGACCACCCC [A/G] TCTCCCGGCTGCGGCACTATCTGCT R 51
rs1050647 GCTGGGTGAGGGCACATTCAGGACTA [A/G] AAGCCCCTCTGGGCATGGGGTGGAC R 51
rs11549938 TCTCTGGAATCCCCATCTACCGCGTC [A/C] TGGACCGGCAAGGCCAGATCATCAA M 51
rs11549937 ATCAACCCCAGCGAGGACCCCCACCT [C/G] CCGAAGGAGAAGGTGCTGAAGCTCT S 51
rs3837930 CTTGTCCGATTGAATACTACTAAATA [-/A] CGCAGGGATACACACATCTCTCCCT N 61
rs2288872 agagcaagactccgtctcaaaaaaat [A/G] taaaacaaaaTAAGCCAATACTGGA R 61
rs76846304 TGAGATCCTGTCTCAAAAAAAAAAAA [-/A] AGGAAATTGAAGTCAAAGAGGGAAG N 101
rs74844919 CAGGGTTTTTGTTTTGTTTTGTTTTT [-/T] TKTTTTTTCGAGGTGGAGTTTTGCT N 101
rs79441216 AGGGTTTTTGTTTTGTTTTGTTTTTT [G/T] TTTTTTCGAGGTGGAGTTTTGCTCT K 101
rs72544848 TTTTGGGGCACAGCTAGATCCAGGGG [-/C] GTCTTCCAGGCAGGAAGTAGAGGGA N 101
rs79327728 TCCCGAGTAGCTGGGATTACAGGCAT [A/G] CACCACCATGCCTGGCTAATTTTGT R 101
rs72544849 AGTATGGACCAGAGGATGTGRGGGGG [-/G] GAGCTGTGTGGTGTCTTGAGGCAGG N 101
rs75568330 TTTTTTTGACTTGCCCTAATCTTAGG [-/A] GTATTTACTTGTGTGGAGAGATGCA N 101
rs77987454 CTAGCCTTCAGTTCAGGGCATGATTT [A/G] GAGCAAATGTTCAGTATCTGTTTAA R 101
rs75747655 TATGGGATAGGTGTTAACTGTTTTCA [C/T] CCCAGTTTTTCAGATGGGGAAACTG Y 101
rs75610485 TCGCAGCTCACTGCAGCCTCCTTCTC [C/T] CAGCTTCAAGCAATTCTCCTGCCTC Y 101
rs75905923 TGGAGTACAATGGCACGATCTCGGCC [C/T] ACTGCAACTTCTGCCTCCCAGGTTC Y 101
rs76715304 CACTGAAGTATGGACCAGAGGATGTG [A/G] GGGGGGAGCTGTGTGGTGTCTTGAG R 101
rs75348131 CCCAAGCTGGAGTGCAGTGGCACGAT [C/T] TCGGCTCACTGCAACCTCCACTTCC Y 101
rs78441720 CTATGGGATAGGTGTTAACTGTTTTC [A/T] TCCCAGTTTTTCAGATGGGGAAACT W 101
rs77449630 CTGCCATTGGGAGTGTAATTTCCTCA [C/G] GACTACAAATGCAAATAAATACACA S 102
rs79447197 ACCTCTCTTTCCTTTTTCTTTTTTTT [C/T] CTTTTTTGAGACAGAGTTTCACTCT Y 102
rs74372796 AAGTGAGACCTGCTCAGCCCACCCCC [A/C] CCCATCCTCAGCTACCCCGAGAGGT M 102
rs76878345 TAATTTTTAAAATTTTTTGTAGAGAT [C/G] TGATCTCAGGCTGGTCTTGAACTCC S 102
rs75733136 AGGCTGCAGCCAGGACCCCGAGGGCT [G/T] GACCCTGTTCCATTTTCAGCACGGA K 102
rs78393603 ATGTAAATGCCACCATTCCCAGCTAA [A/T] TTTTTTTTTTTTTTTTAGATAGAGT W 102
rs75969121 CAGGCTGGTCTTGAACCTGAGTTCAA [C/G] TGATCTGCCCACCTTGGCCTCTCAA S 102
rs79430127 ACATGTAAATGCCACCATTCCCAGCT [A/T] ATTTTTTTTTTTTTTTTTAGATAGA W 102
rs77558911 AAATTTTGGGTAGATAGATTTTTTTT [C/T] CTCCAAATCTCTGTGCATTCTATCT Y 102
rs284656 TGTGTCCTGGCTCTGTGTCCTTGGCA [C/T] GTTGCCCTCCACTTCCTTGTCTTTG Y 157
rs116827405 ATGAGATTTGAGTGGGGACAGAGACA [A/G] ACCATGTCAGTGTGTATTGTGGGAT R 201
rs4803463 CAATCATGAGAAATACTTACTCACTA [C/G] TTGTGTTTATGAAACattatgtgcc S 201
rs114279979 TCAGACACATCCACCTGCTCCTCTCC [C/T] GCCTCCCTCTGCTACCAAGCTGGGC Y 201
rs79041147 TTTTGGGGCACAGCTAGATCCAGGGG [C/G] TCTTCCAGGCAGGAAGTAGAGGGAA S 201
rs4803464 GAGCCCCAGCCAGACTGCTTGTCAGA [A/G] Ccctgcttggcttctcgccctggat R 201
rs77124294 TTTTCACATCTTGAGGCACTGAATGG [C/T] TTACAAATCCAACTCTAATTTTTTA Y 201
rs12327776 TGTGAGTTAACTTAGCAACTTTTCAC [A/G] TGGTGTTCTGCAGccttcttacaga R 201
rs114716391 CTCACCACCCTCTCATCCCCTGCAGC [G/T] GTGGGGGCGGCGTACGCAGCCAAGC K 201
rs117300044 AGCCCAGGAGTTCAAGACCAACCTGG [A/G] TGACATCGTGAGACGCTGTCTCAAT R 201
rs112542121 TGCTGTTATTTGGTTCATAATGATGA [-/TT] TTTTTTTTTTTTTTCGAGACAGGGT N 201
rs118171954 TTGCCTGATTTTCACCTCCCTTCCTG [C/T] CTCTGTTATCATAGCAGACGTTTTA Y 201
rs116647608 GAGTGCAGCAGCATGATCTTGACTTA [C/T] TGCAATCTCTGCCTGCCGAGTTCAA Y 201
rs76458824 TAGTCCCGGCAGTTGCTGCCTGCGGG [A/G] GATTGAGACCTCTGTTAACAGAGGA R 201
rs1473248 AAGAAGGTCCAAGGGACTGATACAGG [A/G] CCTTGGAATCAGGCTTTCTCAGAAT R 201
rs118051219 AGAGAGCTCCCTCTGAATAATGTTCC [C/T] GGTCTGAGTGCTTGCAGCATTGATC Y 201
rs114843826 GGTAAGAACCTGAGTCAACAAAGGTG [A/G] GGTCATGGGCCCAGGCCACATTCTC R 201
rs10406198 CTGGCAGTTCTAAGCAGTCTGGCAGC [A/G] TCTTCTTAAAGGCAGGAACCCCAGC R 201
rs80014754 CTCTGCTCTCTTCCCCAGCACCCCCC [A/C] AGGCAGCAGCAGCAGTTTTCATCTC M 201
rs115268914 CTCTCTCGCCTAGGCTGGAGTGCAGC [A/G] GCATGATCTTGACTTACTGCAATCT R 201
rs114008162 GGATGTCTAGGAGCCTGAATCTCAGC [A/G] TTGGAAGCCCAGTTCTGATGTAATT R 201
rs79985915 CTATAGGTAAGACTTGCCCTAATCTT [C/T] TTTTTTTTTTTTTTTTTGACTTGCC Y 201
rs77667400 CTGCCGCTTTCCACTTGTGTAGCCTT [G/T] GCCAACGGACTGCACTTCTCTGGAT K 201
rs55940366 GCTGTGGCAGAGAACCAGCCCTTCCT [C/T] ATCGAGGCCATGACCTACAGGTGCC Y 201
rs114160048 GAGGGGGCATTTAGGGGGCATTTGAG [C/T] TAAAGGTAATAGGGTTTCCACAAGG Y 201
rs78664582 GCTCTATAGGTAAGACTTGCCCTAAT [C/T] TTTTTTTTTTTTTTTTTTTTGACTT Y 201
rs78994114 AGTCCCGCAGGAAGGTGAGGGTGCCC [C/T] GCCCGGGAGGGTGTGCTGGGGGCTG Y 201
rs112312448 GGGCTGTGGCAGAGAACCAGCCCTTC [-/C] TCATCGAGGCCATGACCTACAGGTG N 201
rs117961146 CCGCCTCTCCACCAGCCTGTGAGGTG [A/G] ATGCCATCCCCACGAGGGCACGCAG R 201
rs2241710 GGCACCCCAGTGTGCTCCACATACTG [C/G] AGCTGGGTCTCGGCTGTACCCTCCT S 201
rs114459633 GGCGTAAGCCACTGCCCAGCATCCCC [A/C] CCTTTTTTTTTTTTTTTTTAAATTT M 201
rs113901068 CGAGTTCAAGCAATTCTCCTGCCTCA [A/G] CCTCCCTAGTAGCTGGGATTACAGG R 201
rs117950460 GAGAAATGTATTAATAATACTTTAGT [C/T] CCGGCAGTTGCTGCCTGCGGGAGAT Y 201
rs115971313 CCGTGGGTCATGTGAGTGTGAATGAG [C/T] GTGAGTGCATGTGAGTCTCCGCCCC Y 201
rs117379765 ACGGGAAAGCCAGGCCTGGGAACACA [G/T] GGAGGAGGGCACCGCCGAGCCGCGA K 201
rs114198932 TTCCTTTTCTCTTCTCTTTTCTCTCT [C/G] TCTTTCTTTCTGTACCTCTCTTTCC S 201
rs115211514 GAAGCGTATGTAGCAGTTTGCCAGGC [A/G] ATAGGGAAAGAGACCTTCTTGTAAA R 201
rs75023451 AGAGCGGGCAGGTTGTGCTTTCCTGC [A/G] TGGTGGGAGAGGACGTGGCATGAAG R 201
rs78727437 GTCTGTGCTCCAGACTTCTTCTTCTT [A/G] TTTTTTTCTTTTTTGAGACGGAGTC R 201
rs79568656 TCACAGGCTGCATAGGGCCTTGTATT [C/T] CTTTGCTCCTTTGCCACAATTCTGA Y 201
rs77623540 TCCTGCCAGAGCTGCGGCAGGTGCTT [C/T] CCCCGCCTCTCCACCAGCCTGTGAG Y 201
rs62637712 CTCCTCTGCTCTCTTCCCCAGCACCC [C/G/T] CCCAGGCAGCAGCAGCAGTTTTCAT B 201
rs111950596 AGGAGTTTGATACCAGCCTGGGCAAC [A/G] TGGCGAGACCCCCATCTCTAAAAAA R 201
rs78673509 AAATAGACAGGTTTGCTTCAGTCCGG [A/G] ATGCAAGGACCTAGAGGGTGTGTGT R 201
rs117030761 GGCCCCACATGCTCTAGGAGGGCAAA [C/T] GCCCTGTGGTGTTTGTCTAAGGTCT Y 201
rs116993920 CAGGCTAGAGTGCTATGGCGCAATCT [C/T] GGCTCACTGCAACCCCCACCTCCCG Y 201
rs114278248 GCTACCAGTTATTGACTTGCCAGCCA [C/T] TTGATTGAGTCATTTAACCTCACAA Y 201
rs75557216 CCAGGCCTGAATCTGCCCTGCCATTG [C/G] GAGTGTAATTTCCTCACGACTACAA S 201
rs116948250 ACTCTAGCCAAAGTGAGATCCTGTCT [A/C] AAAAAAAAAAAAAAGGAAATTGAAG M 201
rs75840909 GGGTGGGGGTGCAGATGGTGCAGGTT [G/T] GGTGGGGCCTCAAGGCCTTTGCCTG K 201
rs78924883 CAGTATCTGTTTAACAAGAACAATCA [C/T] GAGAAATACTTACTCACTACTTGTG Y 201
rs117989172 TCTTTAAAAATTTTTTCTTTTTTTTT [C/T] CCTTGAGACAGGTCTTACTTTGTCA Y 201
rs113649978 TTCTATTTTTAGTGGGTACAGGGTTT [C/T] GCCATGTTGGCCACATTGATCTCGA Y 201
rs79245900 TAGCCCAGATTGGAGTGCAGTGGCAC [G/T] ATCTCAGCTGCCTGCAGCCTTGAAC K 201
rs117069153 TTTGTTTGATTCCTGTGTCTCTTGAT [C/T] GAATATCAAGACAGAGAATTCGTGT Y 201
rs113934297 CTAGGATTACAGGCGTAAGCCACTGC [-/CCAGCAT] CCAGCATCCCCACCTTTTTTTTTTT N 201
rs76070674 TTTCAAACTACATCCAGAATCTCATC [A/C] CCTCCACTACTCCTGCTCTGGCTGG M 201
rs77949523 TTTTTTGTGTGTGTGGCAGGGTCTCT [A/G] TTGCCCAGGCTGGGATGTGTTGGTG R 201
rs117817570 GTGCAGTGGCACGATCTCAGCTGCCT [A/G] CAGCCTTGAACTTCTGGGCTGAAGC R 201
rs114502373 TGTCCTGTCCCTGCCCTTCTCTGTGC [A/C] TCAGTTTCCTCATTGCTTAGCTGTC M 201
rs2288870 CCTTTAGCTCAAATGCCCCCTAAATG [C/T] CCCCTCCTCTGAGAAAGCTTCCCTG Y 201
rs10404506 ATCTCCTCTCCACTGGCCACGCAGAT [C/T] CCTCAGGGTGAGGATGCATGCCCTG Y 201
rs113733825 TGAGCATTTATAGGCTTCTCACAGGT [-/CTC] CTGGGCTTTCTCAGCCATTCCTCAT N 201
rs115015681 ATACCTGTATGAGCACTTTGGGAGGA [C/G] GATTGCTTGAGCCCAGGAGTTCAAG S 201
rs114481527 CTCACTATGTTGCCTAGGCTGATCTC [A/G] AACCACTGGCCTTAAGTGATCCTCC R 201
rs112156740 TCTGCCCCTCCTCTCATTCTCAGAGA [C/T] AGTTACAAAGATGGAACTATCTTCT Y 201
rs74586298 ACACTGACCTGGGGCCCCTTGCCCCT [A/G] TGCAGGATCGGGCACCACAGCACCA R 201
rs11671704 TGTGCTGAGCACTGCACCTGTTTTTG [C/T] TGAAGGGTTCTCTTGTGAGGGCACC Y 201
rs117396977 CCCCCTCTTCACCTGTTGTTACAGTG [C/T] CTTCTCCCAGGGGCTGGGTGAGGGC Y 201
rs117196001 TATTATATTTAATACACCAATAGTGC [A/G] AGGCCTTTATTGGTAGTACTCTCCT R 201
rs79740365 CTGTTTCTATCTGTTACATATGCAGC [A/C] CAGCCACATCTTGTGTGGATTTGTA M 201
rs114320868 GTGAAAGATCCACCCCCATAATTCAA [A/T] TACCTCCCACTGGCTCCTTCCCACA W 201
rs114191970 CTTTGCCTGTTACAGGAGTAACTACA [A/G] TGAGGCGATTGGAGAAAATTTTGGG R 201
rs114178789 GAACTGTCCCCCTGTACTGCCCACTC [A/G] GCTAACCATTGCCTCCTCCCCTCCT R 201
rs116710207 ATTTGCTCTTGTTCCTGTTTTCAAGA [A/G] CAGGATGCCCGTGTTTTGTGTGTGT R 201
rs115062082 TTTTGTAGAGATGTGATCTCAGGCTG [A/G] TCTTGAACTCCTGGGCTCACCTGGG R 201
rs10421626 GAAGCCCCTCTGGGCATGGGGTGGAC [A/G] TGGCAGGTCAGCCTGTGGAACTTGC R 201
rs115313500 ATGGTGCAGGGTTTTTGTTTTGTTTT [G/T] TTTTTTGTTTTTTCGAGGTGGAGTT K 201
rs115280847 ACTTATTCAGTATAATGAGAACAGCA [C/T] GTGAAAGATCCACCCCCATAATTCA Y 201
rs112907023 TTTTTCAGAGACGAGGGTTTTGCCTA [A/G] GCTGGACTCACTATGTTGCCTAGGC R 201
rs75551567 GCCGCTTTCCACTTGTGTAGCCTTGG [C/G] CAACGGACTGCACTTCTCTGGATCT S 201
rs284648 CTAGATCAGGCTACAGGCCCCGGAGG [A/G] CAGGAAGGGGCTCCGATTCCTTGTT R 201
rs118080024 ATATTTCTTTTTTTTTTTTTTTTTTA [C/T] TTTTGAGATGGAGTTTTGCTCTTGT Y 201
rs116309564 CATCTCTGCGCCTGGCTCTCTACCAC [C/T] TCTGGTCTTTGTTTCCTGGAGTTTG Y 201
rs79955062 GGATTTGTATTATGTCCATTCAAAAG [C/T] ATGTGTCAGAAAATACCAGTAAACC Y 201
rs116023298 GAAAGAAGAGAACAGGTCCCTGTCAC [A/C] GGCTGCATAGGGCCTTGTATTTCTT M 201
rs117607126 CGCCTGGCTAATTTTTGTATTTTTGG [C/T] AGGGACGAGGTTTCACCATGTTGTC Y 201
rs115930134 TATAGGGATCAGAAGAGAGCTGGTCT [A/G] TATGCCTAGAGGGCATCCTGCAGTG R 201
rs116221568 TAATAGGGTTTCCACAAGGCTGGGGC [A/G] TGGCCCTAACCTTCCCTCTGGGTCC R 201
rs114587707 AGCCCCGAATCTAGCCTACGTGAGTG [C/G] CGGACCGCTGAGTGGTTGTTAGCCA S 201
rs117815282 AGGCGTAAGCCACTGCCCAGCATCCC [C/T] ACCTTTTTTTTTTTTTTTTTAAATT Y 201
rs111259136 GCGCCGGGCTGGGCCATCCTCCTGGG [C/T] GTCCGCACGTGGCTTAGCGTTTACC Y 201
rs75448330 TCCACCTGCTTGCCCACACCAGAAAC [C/G] TCATCTCATCCCTGTCTCCTCCCTC S 201
rs115695485 CCAGGCTTTCTTCTCTTGCCTTGGAG [C/T] CTTGGTTTTTCCCTAGGACTGAAGT Y 201
rs13343330 CGAGGCCATGACCTACAGGTGCCTGC [C/T] GCTCCCCCCGTCAGCACCCCCACAG Y 201
rs112835313 CCAGCTAATTTTTTTTTTTTTTTTTA [G/T] ATAGAGTCTCACTCTTGTCACCCAG K 201
rs111992248 CTCTATAGGTAAGACTTGCCCTAATC [-/TTTT] TTTTTTTTTTTTTTTTGACTTGCCC N 201
rs115099615 TCCCTTTGAGCATTTATAGGCTTCTC [A/G] CAGGTCTCCTGGGCTTTCTCAGCCA R 201
rs10407077 TCCACTCCTCCTTCCCTAGTTCATCC [C/T] CCATCCTCCCTCCTGACCCCCACTC Y 201
rs77637491 TCCTGTTTCTATCTGTTACATATGCA [C/G] CACAGCCACATCTTGTGTGGATTTG S 201
rs115611992 GGGGGACTCAACTCTTTGCTCTGTTT [C/G] AGGGCAGAGTGCCTTTGAGCTCAGG S 201
rs78878158 CTCTAAAATACTCAGCGGCCAGGGCG [C/G] CTGCCACTCTTCACCCCTGCTCCTC S 201
rs10410801 ATCCAGTCAAGCCAGTGTCAACAAAG [A/C] GGGAAGTTATTGACTCCAATGACCA M 201
rs114054661 TTGGCCTCCAAAAGCATGAGCCACTG [C/T] GCCTAGCCTTTTCTTTTTTTGAGAC Y 201
rs114855860 AGGTGGATGCCATCCCCACGAGGGCA [C/T] GCAGGTTCACAGAGACTGGCTCCTG Y 201
rs78460242 TAATGTTTTGATTTTTTTTTTTTTTT [G/T] TAGAAGCGAGGCCTCACCATGTTGC K 201
rs117138963 TTTCACCTCCCTTCCTGTCTCTGTTA [A/T] CATAGCAGACGTTTTAGTGCTCAGG W 201
rs117316804 AAATACACGAAGTTCCTGCCATGTGC [C/T] GGTGCCACTCCAAGTGCAGGGAACA Y 201
rs9710116 GTCTGGCACTTGGTCAGCCACAGGAG [C/T] TGAGGTCCTGAGCACTCAGCCTTGC Y 201
rs75381316 CCTAGTATCAGGGACAAGGATCCAGT [A/C] AAGCCAGTGTCAACAAAGAGGGAAG M 201
rs11671665 AAGATTTCCAGACACCAGGCAGCAAG [C/T] TGGGCCCCCGCCAGCTGTGCTGAGC Y 201
rs118107394 ATGGACCAGAGGATGTGAGGGGGGAG [A/C] TGTGTGGTGTCTTGAGGCAGGTGTG M 201
rs78570624 CGAACTCCTGACCTCAAGTGAGATTC [C/G] CCTGCCTCTGCCTCCTAAAGGCAGT S 201
rs75018879 CCAGTGGTGTTGCCTCATTGAGGCAC [C/G] TCCCCCATCCATGTGAGGCAGGAGA S 201
rs75757179 AGAGATGCAGTGAGGTAGCGGTGGGG [A/G] TGTATTTCTCAACCCAGCGCAATGA R 201
rs78812877 GAGTGGTTAATTCCTTGCCAAGGCCC [C/T] GCAGGAGGAAGCAGGGTCCTGCATG Y 201
rs116080069 CTGTCTCTGCCTTCCTGGGATTGTGG [C/T] GTGTGTGGGAGACAGACACGAAACA Y 201
rs76383353 CGCTAGAACTGTGGACAGCTTGTTCA [C/T] TGCAGTTAAAGGAAGACGGAGGGAC Y 201
rs7258787 TGTAGTCCAGAAGTTGTAAATTAGTG [G/T] TCTATGCTGTTATTTGGTTCATAAT K 201
rs16975216 CCTAGCTAGTGGGGTGAATAGAGTCC [A/C] TACCCTGTTGGAAGTCAGGAAGCCC M 201
rs75452443 GTTAGGGGATTTGGGAGAAGGGAACT [G/T] GGCACTGGTGTGGCCAGCTGACAGG K 201
rs74512011 GCAAGGGAGGCCAGGGACCTGAGTGC [G/T] TGTCTTTTTGAGGCTCAGGTTAGGG K 201
rs112502758 TGGTGCAGGGTTTTTGTTTTGTTTTG [-/T] TTTTTTGTTTTTTCGAGGTGGAGTT N 201
rs78812076 GAGGGTGGAGGGAAGGGACAGAAACT [A/G] ACCTTGGAGATGGGGAGAAGAAAGG R 201
rs75694368 CCCCTGATAAATCCTAGTATCAGGGA [A/C] AAGGATCCAGTCAAGCCAGTGTCAA M 201
rs114910270 CTAATCTGCACGCCTTTCCCTTCTCA [C/T] GAGATATTCTGGGAAGGGGGACTCA Y 201
rs284650 CACTTCAAATACACGAAGTTCCTGCC [A/G] TGTGCCGGTGCCACTCCAAGTGCAG R 208
rs57341563 GTGGGGCAGGAGGTGGGCAGGACTGG [A/G] GCAGGCTAGGGAAAGGTCATTTATG R 223
rs55748223 TCACTTTTTTTTTTTTTTTTTTTTTT [-/T] GAGCAGTTCATATCCTCCACAGCTG N 223
rs4802116 TGTTTTTTCCCCTTTATTTCTCCCAC [C/T] TGTTCTTTctctcttcttctttctt Y 226
rs56189158 AACTCTTTGCTCTGTTTGAGGGCAGA [A/G] TGCCTTTGAGCTCAGGAGAGAGTGG R 247
rs10426536 tatcactttgttgcccaggctggagt [A/G] caatggtgcagtcatggctcactgc R 250
rs111855817 TGCCCTCCTGCTGCTGCGGCAGCCTG [A/G] GGCTCGGGGACTGGCTAGATCTGTG R 251
rs3810175 TGTCTCTTGATCGAATATCAAGACAG [A/G] GAATTCGTGTGTTCTGGACACTGTA R 251
rs3810174 AGGCTCCTTGGAGGAACAGGGGAAGA [C/T] CGCAAGACCTTCTCCCTCAGGGTTT Y 251
rs71334984 TTTTGAGATGGAGTCTCGCTCTGTTG [-/C] CCCAGGCTGGAGTGCAGTGGCGCGA N 251
rs76230844 TTTTTTGACTTGCCCTAATCTTAGGG [A/G] TATTTACTTGTGTGGAGAGATGCAG R 251
rs28940288 ACTTCGGCGAGGGGGCAGCCAGTGAG [A/G] GGGACGCCCATGCCGGCTTCAACTT R 251
rs60715253 GGGCCTGTAGCCTGATCTAGGGTTGG [C/T] CTGGGCCCTGGCTTCTTTGCCCTAG Y 251
rs111705372 GCACTGGTCCTCACCGATGCCCTTCC [A/G] TGGTGGAACAGGTGCTTCCTTTGGG R 251
rs113111906 TTTTTTTTTTTTTTTTTTTTTTTTTT [C/T] TTGGTCTGAGACGGGGTTTCACTCT Y 251
rs62117494 CATGGGGTTTCACCATGTTGGCCAGG [A/C] TGGTCTCAGCCTCCCGAAGTGTTGG M 251
rs62117493 AGACAGCATGTTGCTCTGTTGCCCAG [A/G] CTGGAGTGCAGTGGTGTGATCATGG R 251
rs62117495 TTTGTAGCCCAGATTGGAGTGCAGTG [A/G] CACGATCTCAGCTGCCTGCAGCCTT R 251
rs73931473 TTCTGATTTTAAAATGAATTGTGTAA [A/G] AAATTTGTTTGATTCCTGTGTCTCT R 251
rs73931479 CCCCTACCTGTGTTTGGGCCAAAGGA [A/G] TGGCTCCCAAGGAGGACAGATTCTT R 251
rs73931475 AGGTGAGGTCTGAACTTGGAGCTCTG [C/G] ACTCCAAAACCCAGTTTCTTTTCAT S 251
rs73931477 AGACTCTGGCCTCCCCTCTTAGTGCC [C/T] GTCTGAAGACTTCAGCCTTCGGTCC Y 251
rs137852872 GCCCAAACCCAACCCCAACCTACTCT [G/T] CTCAGACGTGTATCAGGAGATGCCC K 251
rs137852873 TTGAGTGCCCCATCATCTTCTTCTGC [C/T] GGAACAATGGCTACGCCATCTCCAC Y 251
rs137852870 GCCACCTGCAGACCTACGGGGAGCAC [A/T] ACCCACTGGATCACTTCGATAAGTG W 251
rs137852871 GTGTCCCCACAGCAGCACGAGGCCCC [A/G] GGTATGGCATCATGTCAATCCGCGT R 251
rs137852876 CTTGAGTGCCCCATCATCTTCTTCTG [C/G] CGGAACAATGGCTACGCCATCTCCA S 251
rs137852874 CAGCCAGTGAGGGGGACGCCCATGCC [A/G] GCTTCAACTTCGCTGCCACACTTGA R 251
rs137852875 TGATGTGTTTGCCGTATACAACGCCA [C/G] AAAGGAGGCCCGACGGCGGGCTGTG S 251
rs71181107 TCATAATGATGATTTTTTTTTTTTTT [-/T] CGAGACAGGGTCTTGCTTTGTAGCC N 251
rs7257117 AGCCAAGCCAGCCGGGTGTGGTGCAC [C/T] GTAGGGGTGGCTGGGGTCCGTCACT Y 251
rs71181106 TTTTTTGTATTTTTAGTAGAGGCGGG [-/G] TTTCACCATGTTAGCCAGGATGGTC N 251
rs71181108 CTCCTGACCCCCACTCCAGGGAGCCC [-/C] ACACTGACCTGGGGCCCCTTGCCCC N 251
rs71181105 AGGGTTTTTGTTTTGTTTTGTTTTTT [-/T] GTTTTTTCGAGGTGGAGTTTTGCTC N 251
rs3786553 CCTCCACCCTCCCACCCCCACCCCCC [A/C] CACACACACCCTCTAGGTCCTTGCA M 251
rs11879090 GTGCTTCCTGGAGTGCTCCAGGGGAC [C/T] GCCCTAGGCCCATGTGAAATGGGCT Y 251
rs8108664 TTGAGGCGGCGCCTCAGCTACCACCT [A/G] TCTTTGATGGAGTTATGATAACAGT R 251
rs112381655 GCGCCGAGCCCACGTGCGGCTGCAGT [A/T] GTCACTTCCGCCTGGCAGCGCGCGC W 251
rs61737367 TCCACGCCCACCTCTGAGCAGTATCG [C/T] GGCGATGGCATTGGTATGGGCTCTG Y 251
rs59777247 CATTGAATACCCTGCTGCCCTGCAGA [C/T] GTGTTTGCCTGATTTTCACCTCCCT Y 251
rs73047262 TTTTCTCTCTCTCTTTCTTTCTGTAC [C/T] TCTCTTTCCTTTTTCTTTTTTTTTC Y 251
rs112929552 CCGCTTTCCACTTGTGTAGCCTTGGC [A/C] AACGGACTGCACTTCTCTGGATCTA M 251
rs111838742 CAGAGCAAGACTATCTCTTAAAAAAA [A/G] AAAAAAGCTGGTTTGAGGATTAGGT R 251
rs73931480 CAGGGTTAGGACTCTGGAGGGGGCAG [A/T] CTTCCCACTCTGAAGGCCAGAAAGT W 251
rs73931484 GCAGACAGGATGGGGGTGGGGGGGTC [C/T] TCCAGAGATGGTCTCCTGCTCTCTC Y 251
rs73931482 CTAGTAAGGAGGCTGCTCAGTAACTT [C/G] GGCTTGACCAGGGTGGTGCAGAGGA S 251
rs73931483 CTGGTTCTCGTCCTGTGTCCTGTGGC [A/G] TCTGGCACTTGGTCAGCCACAGGAG R 251
rs10425437 gctttgtagcccagattggagtgcag [C/T] ggcacgatctcagctgcctgcagcc Y 255
rs17173144 TTGTTAGCCAAGATGGCGGTAGCGAT [C/T] GCTGCAGCGAGGGTCTGGCGGCTAA Y 260
rs2241711 ATTCAGTGAGCTATGCAAAGGGCTCC [A/G] CGCTGTGCCTGGTCCTGAGGAAATG R 268
rs11672345 AGAGACTGGCTCCTGTCCAAGGCCGC [A/G] TGGCTGGAAAGAGACAGAACCAGAT R 282
rs10413735 GTCTACTGCTCACAGCTGGACCAGGC [C/T] CTTGGCCCCACATGCTCTAGGAGGG Y 301
rs34956071 TAGGTGTGCTGATGTATCGGGACTAC [C/T] CCCTGGAACTATTCATGGCCCAGTG Y 301
rs3213861 TAGAAGGAGATCCGGCCCTGGGGGTG [G/T] AGAGGGGACCGGGGTCCCACAATTG K 301
rs3213860 GGGAAGACTGCCCCCTCCAGAGTCCT [A/G] ACCCTGGCTTGTCTCTTTCTTGCTT R 301
rs35521052 TCAGCGGCAGGTGCGTGGGGACAGGA [-/C] TAGGGGCGGGGGGCTGGAATTACCT N 301
rs35085046 GGGCAACGAGAGCAAGACTCCATCTC [-/A] AAAAAAAAAAATTAGCCAGGCGTGG N 301
rs35214178 GGCTGCCTAGCTCCAGAGCTAAGAGT [-/C] CCCAGTGGGTTCATATCCCTTTGAG N 301
rs35024134 CAACCTCCTGAGTAGCTGGGACTATA [-/G] GGTGCGTGCCACCACGCCTGGCTAA N 301
rs34589432 CCTCTGCTCTCTTCCCCAGCACCCCC [A/C] CAGGCAGCAGCAGCAGTTTTCATCT M 301
rs34978824 GTCCCTTCCCTTATAAGAGCTTTTTT [-/G] GGGAAGCAAACCCACTGGGTGCCAG N 301
rs35487663 GCGTGGCCCTAACCTTCCCTCTGGGT [-/C] CCCTGCTAAGTCACTTCAAATACAC N 301
rs3217386 CTTCCCTCTACTTCCTGCCTGGAAGA [-/G] CCCCCTGGATCTAGCTGTGCCCCAA N 301
rs3217385 GGCAAGGGGCCCCAGGTCAGTGTGGG [-/G] CTCCCTGGAGTGGGGGTCAGGAGGG N 301
rs12983789 TCCTAACTCTGGCAACGCCATTGGAC [A/T] TTTGGGAACAGAAGGCAGGCCTTGG W 301
rs34500671 TCTGGCCGCGACAGCAGGTTCTGTTC [C/G] CAGGCAAAGTGCCGGAGGCTGCAGC S 301
rs34492894 GTGTATCAGGAGATGCCCGCCCAGCT [C/T] CGCAAGCAGCAGGAGTCTCTGGCCC Y 301
rs36050387 GGGTCCTCCAGAGATGGTCTCCTGCT [-/G] CTCTCACAGAATGGGAGAAGCCTGC N 301
rs284654 CAGTGATCGATATGAGGAAGATGCTA [C/T] GGTGGCTGTCAGTGCTGTGGGGGTG Y 301
rs284655 GGGGAGATGCAACATCAGGTGATAAG [A/G] CCATGTTTTGGAGACAGTGATCGAT R 301
rs284652 CACCTGTAGGTCATGGCCTCGATGAG [A/G] AAGGGCTGGTTCTCTGCCACAGCCC R 301
rs284653 CTATGGTGGCTGTCAGTGCTGTGGGG [A/G] TGCTGACGGGGGGAGCGGCAGGCAC R 301
rs4674 ATCTCCTGATACACGTCTGAGAAGAG [C/T] AGGTTGGGGTTGGGTTTGGGCTTCC Y 301
rs6508977 CTGGATGCCTTATGGGTTCAGTGAGC [A/G] CATAGGTGTAAATAAAGTGCTTTGA R 301
rs34391204 AAATTTTTCAGAGACGGGGGTTTTGC [C/T] TAGGCTGGACTCACTATGTTGCCTA Y 301
rs284649 ATGCATCTCAGCTGCCCTAGGGCAAA [A/G] AAGCCAGGGCCCAGACCAACCCTAG R 301
rs34541442 TAGCGATCGCTGCAGCGAGGGTCTGG [A/C] GGCTAAACCGTGGTTTGAGCCAGGC M 301
rs34933875 ACAGGCGTGAGCCACCATGCCTGGCC [-/T] TTTTTTTTTTTTTTTGAGGTGGAGT N 301
rs12459859 ACTTTAGTCCCGGCAGTTGCTGCCTG [C/T] GGGAGATTGAGACCTCTGTTAACAG Y 301
rs34919809 TTGTGTGTTCAGTGTTTGTCATTCAT [-/C] CCCTCCCTGTCTCTAGCCTTCAGTT N 301
rs10409485 CGAGCACTGATAGGGCCAGGAAGGCA [C/T] ATCTTAACCCTTTGTCTTAGATGCT Y 301
rs10853751 TGGGCTCGGCGCGATGGAGGAGGAGA [C/T] GCATACTGACGCCAAAATCCGTGCT Y 301
rs34107638 CCTCTGGGTCCCTGCTAAGTCACTTC [-/A] AAATACACGAAGTTCCTGCCGTGTG N 301
rs35547143 TTATCTTCAATTTGAGGAGTATTTAC [-/T] GTGGGTGAAAGATCCGCCACAGTCC N 301
rs34169026 GGCCGCGACAGCAGGTTCTGTTCGCA [A/G] GCAAAGTGCCGGAGGCTGCAGCCAG R 301
rs34442879 GGGGAGTGCCGCCGCCCTGGACAACA [C/T] GGACCTGGTGTTTGGCCAGTACCGG Y 301
rs4803465 ggcgtgctcctttgcctcacctagtc [C/T] gtttctcagtgaagagcaccaccat Y 303
rs2241706 tagtgagtccagcctaggcaaaaccc [C/T] cgtctctgaaaaatttttaaattag Y 320
rs10408639 gaagcctcacaaacatggcggaaggc [A/G] aatgaggagcaaagtcacatcttac R 328
rs13346233 GCCCCACATGCTCTAGGAGGGCAAAC [A/G] CCCTGTGGTGTTTGTCTAAGGTCTA R 337
rs10414106 ACTGTCTACTGCTCACAGCTGGACCA [A/G] GCCCTTGGCCCCACATGCTCTAGGA R 337
rs284658 ACGGGCCCTGGGTCCTAATGACCGGG [C/T] CAGGGAGGGTGGCACACTGACTCTG Y 344
rs11670583 ACGTTCGCTGTGGGTGTGGCCTGTGC [A/T] GGAGACCCTGTCTGCCTGGTGCAGT W 349
rs59991538 ACAGACCTGAGTGCGGTGCAAGATTA [C/G] AGGGGCCCGGCAAGCCCAGATGAGT S 349
rs11670668 TGTGGCCTGTGCAGGAGACCCTGTCT [C/G] CCTGGTGCAGTGATCCCCTGGCCCC S 349
rs58786677 CATACAAAAATTAGCTTGGCATGGTG [A/G] TGCACACCTGTAATCCTAGCTACTC R 350
rs1967333 aaaaaaaaattagccaggtgtggtgg [C/T] gtgcacctgtggtcccagctattca Y 354
rs2241707 ccaggaaggctgggcgtggtggctca [C/T] gcctgtaatcccagcactttgggag Y 370
rs12982607 CCTGTAATCCCAGCACTTCGGGAGGC [C/T] GAGGCGGGAGGATTGCTTGAGCCCA Y 384
rs57372161 GTAATCCCAGCACTTCGGGAGGCTGA [G/T] GCGGGAGGATTGCTTGAGCCCAGGA K 387
rs3061207 TCTGATGTAAtttttttttttttttt [-/TTTT] tttgagacagggtctcactttgtcc N 388
rs10424533 tgttttgatttttttttttttttgta [A/G] aagcgaggcctcaccatgttgctca R 390
rs2288871 CATGTGTTCCCAGGCCTGGCTTTCCC [A/G] TTGCTGTGGGGGAAACTGATGAATG R 394
rs10418291 CTCATTCCCTCTGTCTGTAGATAttt [C/T] ttttttttttttttttttacttttg Y 397
rs67617298 GCGTGCCACCACGCCTGGCTAATTTT [-/T] GTATTTTTAGTAGAGATGGGGTTTC N 401
rs35668703 GAGCAAGACTCCATCTCAAAAAAAAA [-/A] AATTAGCCAGGCGTGGTGGTGCGTG N 401
rs11300069 AAGTGAGATCCTGTCTCAAAAAAAAA [-/A] AAAAGGAAATTGAAGTCAAAGAGGG N 401
rs72026304 CGTTTAAGCCATTGTGCCCAGCCCAC [-/TTTTTTTTTTTTTTTTTTTTTTTT] TTTTTTTTTGGTCTGAGACGGGGTT N 401
rs66703155 TTGGGGCACAGCTAGATCCAGGGGGT [-/C] CTTCCAGGCAGGAAGTAGAGGGAAG N 401
rs72108665 CAAGCCAGACTCTGTCTCAAAAAAAA [-/AAA] AAAAAAAAAAAAAAGGTAACTGCTG N 401
rs67015245 GATGTAATTTTTTTTTTTTTTTTTTT [-/TTTT] GAGACAGGGTCTCACTTTGTCCCCC N 401
rs72119198 GATATTTCTTTTTTTTTTTTTTTTTT [(LARGEDELETION)/-] TTTTTTTTTTTTTTTTTTTTTTTTT N 401
rs16980932 ATTGGAGAAAATTTTGGGTAGATAGA [-/T] TTTTTTTTCTCCAAATCTCTGTGCA N 401
rs66596854 CAGGCGTAAGCCACTGCCCAGCATCC [-/AGCATCC] CCACCTTTTTTTTTTTTTTTTTAAA N 401
rs67557049 GGAGACCTTTTCACTTTTTTTTTTTT [-/T] TTTTTTTTTGAGCAGTTCATATCCT N 401
rs66801847 CATAATGATGATTTTTTTTTTTTTTC [-/T] GAGACAGGGTCTTGCTTTGTAGCCC N 401
rs10709558 ccgctttccacttgtgtagccttggc [-/C] aacggactgcacttctctggatcta N 401
rs892044 GTAGGCTAGATTCGGGGCTGCCTCTT [C/T] ATGTGCCTGACGCAAACTCCAGCAC Y 401
rs3214612 CCTCAAGACACCACACAGCTCCCCCC [-/C] TCACATCCTCTGGTCCATACTTCAG N 401
rs3214613 TAGATCCAGAGAAGTGCAGTCCGTTG [-/G] CCAAGGCTACACAAGTGGAAAGCGG N 401
rs72405314 TCCTGACCCCCACTCCAGGGAGCCCA [-/C] CACTGACCTGGGGCCCCTTGCCCCT N 401
rs66828714 GTTATTTGGTTCATAATGATGATTTT [-/T] TTTTTTTTTTCGAGACAGGGTCTTG N 401
rs72095217 AGCCAAAGTGAGATCCTGTCTCAAAA [-/A] AAAAAAAAAGGAAATTGAAGTCAAA N 401
rs72343230 AGCCCAGTTCTGATGTAATTTTTTTT [-/TTTT] TTTTTTTTTTTGAGACAGGGTCTCA N 401
rs34447852 TGTGTGAGAGACAGCAAGTGAATGGG [-/A] AAAAAAAAAGTGCAGGAGCCTGGCC N 401
rs67530835 TAGGATTACAGGCGTAAGCCACTGCC [-/AT/CCAGCAT] CAGCATCCCCACCTTTTTTTTTTTT N 401
rs11437195 TGGTGGGTGGGGGTGCAGATGGTGCA [-/G] GGTTGGGTGGGGCCTCAAGGCCTTT N 401
rs67031414 GCAAGACTCCATCTCAAAAAAAAAAA [-/A] TTAGCCAGGCGTGGTGGTGCGTGCC N 401
rs66865572 CAAGACTCCATCTCAAAAAAAAAAAT [-/A] TAGCCAGGCGTGGTGGTGCGTGCCT N 401
rs5828106 taattttttgtatttttagtagaggc [-/G] gggtttcaccatgttagccaggatg N 401
rs11307062 CTCTAGCCAAAGTGAGATCCTGTCTC [-/A] AAAAAAAAAAAAAGGAAATTGAAGT N 401
rs5828107 agagcaagactccatctcaaaaaaaa [-/A] aaattagccaggcgtggtggtgcgt N 401
rs71960526 TGTCTGTAGATATTTCTTTTTTTTTT [-/TTTTT] TTTTTTTTACTTTTGAGATGGAGTT N 401
rs11313402 TGCCTTTGGGCTGGAGACCTTTTCAC [-/T] TTTTTTTTTTTTTTTTTTTTTGAGC N 401
rs892043 TCACGTAGGCTAGATTCGGGGCTGCC [C/T] CTTTATGTGCCTGACGCAAACTCCA Y 401
rs10565264 tcaccctctaagggattttttttttt [-/TTT] tttttttttgagatggagtctcact N 401
rs284651 GAGGGTAGGGGTGGCAGGAAGGTGGC [A/G] GGATTGGGGAGGGAAGGAGATGATC R 401
rs66838098 TCTCAAAAAAAAAAAAAAAAAAAAAA [-/AAA] GGTAACTGCTGTGTGTAATGTGATC N 401
rs33988947 AATTTTTTGTATTTTTAGTAGAGGCG [-/G] GGTTTCACCATGTTAGCCAGGATGG N 401
rs67118441 GCCCAGTTCTGATGTAATTTTTTTTT [-/TTTT] TTTTTTTTTTGAGACAGGGTCTCAC N 401
rs67456786 CCCTCCTGACCCCCACTCCAGGGAGC [-/C] CCACACTGACCTGGGGCCCCTTGCC N 401
rs72316851 ATATTTCTTTTTTTTTTTTTTTTTTA [-/TTTTTTTTTTTTTTTTTTTT] CTTTTGAGATGGAGTTTTGCTCTTG N 401
rs67742179 CCAAAGTGCTGGGGTTACAGGCGTGA [-/G] CCACCATGTGTGGCCGGGCAGGTGA N 401
rs66601221 TGCCCTAATCTTTTTTTTTTTTTTTT [-/TTTT/TTTTTT] GACTTGCCCTAATCTTAGGGATATT N 401
rs67955137 GGTGGGTGGGGGTGCAGATGGTGCAG [-/G] GTTGGGTGGGGCCTCAAGGCCTTTG N 401
rs71922487 CCCAGTTCTGATGTAATTTTTTTTTT [-/TTTT] TTTTTTTTTGAGACAGGGTCTCACT N 401
rs10712417 AAATTTTGGGTAGATAGATTTTTTTT [-/AAACA/T] CTCCAAATCTCTGTGCATTCTATCT N 401
rs72299612 GGGCAACAAGAGCAAAACTCCGTCTC [-/A] AAAAAAAAAAAAGAAAGAAAATTAG N 401
rs45500792 AGAGGCAGCCCCGAATCTAGCCTACG [G/T] GAGTGCCGGACCGCTGAGTGGTTGT K 401
rs72449807 GGTGCGTGCCACCACGCCTGGCTAAT [-/T] TTTTGTATTTTTAGTAGAGATGGGG N 401
rs72428261 TATGGACCAGAGGATGTGAGGGGGGA [-/G] GCTGTGTGGTGTCTTGAGGCAGGTG N 401
rs71866052 AGCCAGACTCTGTCTCAAAAAAAAAA [-/AA] AAAAAAAAAAAAAGGTAACTGCTGT N 401
rs66517057 CTGAAGTATGGACCAGAGGATGTGAG [-/G] GGGGGAGCTGTGTGGTGTCTTGAGG N 401
rs58057017 TTTTTTGACTTGCCCTAATCTTAGGG [-/A] TATTTACTTGTGTGGAGAGATGCAG N 401
rs11307304 TTCACTTTTTTTTTTTTTTTTTTTTT [-/T] GAGCAGTTCATATCCTCCACAGCTG N 401
rs66530612 ATATCACCCTCTAAGGGATTTTTTTT [-/TT/TTT] TTTTTTTTTTTTGAGATGGAGTCTC N 401
rs11670757 CTGGCTATGCTGGGTACTCAGAAGGG [G/T] GAAGCACTGTGCTGCAAGAGGCCGG K 404
rs11670725 CCTGCTGTGAAGGCAACCTGGACGCT [C/G] TCTCTGCCTTCCTGGGATTGTGGTG S 404
rs28374474 GATATTTCTTTTTTTTTTTTTTTTTT [A/T] CTTTTGAGATGGAGTTTTGCTCTTG W 416
rs59885702 GATATTTCTTTTTTTTTTTTTTTTTT [-/TTTTT/TTTTTTTTTTTTTTTTTTT/TTTTTTTTTTTTTTTTTTTT] ACTTTTGAGATGGAGTTTTGCTCTT N 416
rs10418669 ttttttttttttttttttacttttga [A/G] atggagttttgctcttgttgcccag R 424
rs57096317 GGGTGGCTGGGGTCCGTCACTGGAGT [A/G] ACACTGAAGTATGGACCAGAGGATG R 427
rs11437196 GTATGGACCAGAGGATGTGAGGGGGG [-/G] AGCTGTGTGGTGTCTTGAGGCAGGT N 462
rs12709849 gttgcccaggctggagtgcaatggca [C/T] gatcttggctcaccgcctccctggt Y 467
rs11883104 TGAGCCAAGATTGCGCCATTGCATTC [C/T] GGGCAACAAGAGCAAAACTCCGTCT Y 476
rs10409251 cacccccataattcaattacctccca [C/G] tggctccttcccacaacatgtggga S 483
rs59076804 GAGATCCTGTCTCAAAAAAAAAAAAA [-/A] GGAAATTGAAGTCAAAGAGGGAAGT N 488
rs4803466 TCGTTCCCTTTGTTATCTGGGTGCCA [C/T] CTCCTCTCCCTCCTCATCTTTCCCC T 500
rs4803467 aggttcaggtgattctcctgcctcag [A/C] ctccggagtagctggaattaaaggc M 501
rs4803469 GAGGTTCAAGACTGCAGTGAGCTATG [A/C] TTCCACCACCGAACTCCAGTTTGGG M 501
rs10420556 aagtgattctcctgcctcagcctccc [A/G] aatagctgggactactggcgtgcgc R 501
rs4803468 AAGCCAGGTAAGAACCTGAGTCAACA [A/G] AGGTGAGGTCATGGGCCCAGGCCAC R 501
rs4803462 CCTTGAATGTGCCTCCTCCCACCTGG [A/T] GGCCTTTGTAGGTATGAGGTCCTTC W 501
rs10419188 cccccaagtagctgggattacaggcg [C/T] ccaccaccacactcggctaattttt Y 501
rs4802117 CAGGTTCAAGCGATTCTCCTGCCTCA [A/G] CCTCCTGAGTAGCTGGGACTATAGG R 501
rs4802118 ttttagtagagatggggtttcaccac [A/G] ttggtcaggctggtttcaaactcct R 501
rs10405951 tggccTTAAATTTTATTTATATAttt [A/T] tttttgtagagacgaggtctcacta W 501
rs12973059 ggcgtgtgcctgtagtcccagctact [C/T] gggaggctgaggcagaagaatcgct Y 501
rs60637881 GTGGGTGGGGGTGCAGATGGTGCAGG [-/G] TTGGGTGGGGCCTCAAGGCCTTTGC N 501
rs2241708 GCCCCAGCAGATACTCCAGAGAGGGA [A/G] ACTGAGGCACAGGGGAGACGGCATG R 501
rs2241709 GAGGGAGACTGAGGCACAGGGGAGAC [A/G] GCATGCTGATGGAAGAGGACCGAAG R 501
rs12980966 tgaccaggctggtcttgaactcctga [C/T] ctaaggtgatctgcccgcctcggcc Y 501
rs11880951 GAAATAGTCAGGGAAAGGTTGAGAGG [C/G] TGCATATTGTAGACAGATTGGATTA S 501
rs10418917 acctggctaattttgtatttttagta [A/G] agatggggtttctccatgttggtca R 501
rs12971746 gctgggcgtaatggcgtgtgcctgta [A/G] tcccagctacttgggaggctgaggc R 501
rs12980789 actctgtcgcccaggctggagtacgg [G/T] ggcgcagtcttggctcattgcaact K 501
rs11880539 TCTTTAGGAAGTGCTCAGCTGCTCAG [A/C] AGCACACTCTGAGACCCAGCCCCAT M 501
rs7258973 GACGCCATTCTCCTGCCTCAGCCTCC [C/T] GAGTAGCTGGGACTACAGGCGCCCG Y 501
rs61285302 CTGGGATTACAGGCATGCGCCACCAC [A/C] CCTGGCTAATTTTGTATTTTTAGTA M 501
rs57114476 AGGGATTTTTTTTTTTTTTTTTTTTT [-/TT] GAGATGGAGTCTCACTGTCACCAGG N 501
rs10417311 GGGgctgggcgtggtggctcatacct [A/G] tatgagcactttgggaggaggattg R 501
rs10415116 CTGGTTTGAGGATTAGGTGGCAAACC [A/G] TGGTGGAGTGTACATGCCCTGCCCA R 501
rs166925 TATGTTTGTGAGCAGACAAATGCAGT [A/G] GGCATGTGGTTGGGAAATCCAGAGT R 501
rs10422226 CACCATCATTGTTACTTGTTTAGTGT [C/T] TGCCCTCCCTGCTAGGCAgcaagga Y 501
rs59233264 GACAGAGCAGCCCTCTGTCTCAAAAT [A/G] AGATAGCCACAAGTGGTTGGTGGCT R 501
rs10411013 gttggccaggctggtctcgaactcct [G/T] gcctcaactgatccacccacctcag K 501
rs10554793 ATGGTGCAGGGTTTTTGTTTTGTTTT [-/GTTT] TTTGTTTTTTCGAGGTGGAGTTTTG N 501
rs58959515 TTTGCTCTTGTTCCTGTTTTCAAGAG [C/G] AGGATGCCCGTGTTTTGTGTGTGTG S 501
rs60285872 TGCCCTAATCTTTTTTTTTTTTTTTT [-/TTTT] GACTTGCCCTAATCTTAGGGATATT N 501
rs12327735 ggtgatctgcctgcctcggactccca [A/G] agtgctgggattacaggcgtgagcc R 501
rs11666243 CTTACCTGTCAACTTGACACTTTTTT [G/T] TTTTTTTAGGCTAGTCAGGTGAAGC K 501
rs12327737 gctgggattacaggcgtgagccacca [C/T] gcccagccttcctggctaatttaaa Y 501
rs10416743 CTGGGCTTTCTCAGCCATTCCTCATC [C/T] GACCTGAGGAGGTGTGATGTCCTTG Y 501
rs12979462 tttttgaggtggagtctcactctgtc [G/T] cccaggctggagtacggtggcgcag K 501
rs58436091 TTTTGCAGAGAGCCACACAATGAGCT [A/G] AGAAATTAGAACCCAGGGCAGTTGA R 501
rs59989753 GTCTCCCAAAGTGCTGGGATTACAGG [C/T] GTGAGCCACCACGCCCAGCCTAATT Y 501
rs10417997 gaactcctgacctcaggtgagccaca [A/G] gtcttggcctcccaaagtgtgggga R 501
rs10422783 gctgggattacaggcataagccactg [C/T] gcctggctgcgcctggctaattttt Y 501
rs11083619 TGAACTCCAGAGCCAGGGAACTTAAC [A/C] GCCCATTCATGCATTCACTCAGGAA M 501
rs11083618 ttgtatttttagtagagacagggttt [C/T] gccatgttggccaggctggtctcga Y 501
rs8102338 tgaactcctgggctcaagcgatcctc [C/T] ctccttggcctcccaaagtgctggt Y 574
rs4803461 cGGGCAGGTGATTTTTCTTGTCTTTC [A/G] CCTCTTTCCACTTCAGTCCCCCTGG R 588
rs284647 gagaaggaggctgcagtgagctgcga [C/T] agcaccactgcactctagcctgggc Y 654
rs1967334 actccagcctgggcaacagagcgaga [C/T] tccatctcaaaaaaaaaaaaggaga Y 770
rs284657 ctatctcttaaaaaaaaaaaaaaGCT [C/G] GTTTGAGGATTAGGTGGCAAACCGT S 821
rs3816037 TGGGGCTCTGGGCAGCCCTGGCATAC [A/G] GATGGACATGAGATCACACAGGGCC R 1217


results for the gene search with BCKDHA

mRNA pos aa position function mutation aa change
54 5 synonymous C/T -
72 12 synonymous C/A -
125 29 missense G/A Gly/Glu
153 83 synonymous C/G, C/T -
155 39 missense C/A Pro/His
156 39 synonymous C/A -
238 82 missense A/C Met/Leu
330 97 synonymous G/C -
491 151 missense C/T Thr/Met
547 170 missense C/T Pro/Ser
678 213 synonymous C/T -
687 216 synonymous G/T -
769 244 missense G/A Gly/Arg
879 280 synonymous C/T -
1011 324 synonymous C/T -
1012 325 frame shift C/ -
1014 325 synonymous C/T -
1120 361 missense A/G Ile/Val
1260 407 synonymous A/G -
1299 420 synonymous C/T -


Point mutations can have an influence on the amino acids or not depending on kind of point mutation. There are two different types: synonymous and non-synonymous mutations.

If a point mutation is synonymous it means that the change occurs only in the nucleotide sequence but not in the amino acid sequence. This is possible because of the fact that amino acids are encoded by three nucleotides (codons) and some of the amino acids are encoded by more than one possible arrangement of nucleotides. So it can happen that when there is a mutation in the nucleotide sequence there is also a change in the codon but both codons encode the same amino acid.

The other possibility is that a mutation is non-synonymous which means that the mutation has an influence on the amino acid sequence and the amino acid changes. This change can have more or less severe because amino acids have several properties. When an amino acid is replaced by an amino acid which has the same properties the change is not so grave as the change to an amino acid with completely different properties.

Retrieved from "https://i12r-studfilesrv.informatik.tu-muenchen.de/wiki/index.php?title=Mapping_SNPs_BCKDHA&oldid=5613"