Difference between revisions of "Mapping SNPs BCKDHA"

From Bioinformatikpedia
(→‎General)
(→‎SNPs in human)
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=== SNPs in human ===
  
=== SNPs in human ===
   
−
{|border="1"
 +
{|border="1" style="text-align:center; border-spacing:0;"
−
!ID
 +
!RefSeq ID
  +
!SNP
−
!mutation in sequence
  
  +
!Reference Sequence
−
!amino acid
  
  +
!Nucleotide Position
−
!pos
  
  +
!Nt old
  +
!Nt new
  +
!Codon pos
 
|-
  
|-
  +
rs137852876 || CTTGAGTGCCCCATCATCTTCTTCTG[C/G]CGGAACAATGGCTACGCCATCTCCA || NM_000709.3 || 792 || C || G || 264 || S
−
|rs61736656||ATTACTGGGATAAACAGGACCACCCC [A/G] TCTCCCGGCTGCGGCACTATCTGCT||Arg||51
  
−
|-
 +
|-
  +
rs137852875 || TGATGTGTTTGCCGTATACAACGCCA[C/G]AAAGGAGGCCCGACGGCGGGCTGTG || NM_000709.3 || 929 || C || G || 310 || S
−
|rs1050647||GCTGGGTGAGGGCACATTCAGGACTA [A/G] AAGCCCCTCTGGGCATGGGGTGGAC||Arg||51
  
−
|-
 +
|-
  +
rs137852874 || CAGCCAGTGAGGGGGACGCCCATGCC[A/G]GCTTCAACTTCGCTGCCACACTTGA || NM_000709.3 || 745 || G || A || 248 || R
−
|rs11549938||TCTCTGGAATCCCCATCTACCGCGTC [A/C] TGGACCGGCAAGGCCAGATCATCAA||Met||51
  
−
|-
 +
|-
  +
rs137852873 || TTGAGTGCCCCATCATCTTCTTCTGC[C/T]GGAACAATGGCTACGCCATCTCCAC || NM_000709.3 || 793 || C || T || 264 || Y
−
|rs11549937||ATCAACCCCAGCGAGGACCCCCACCT [C/G] CCGAAGGAGAAGGTGCTGAAGCTCT||Ser||51
  
−
|-
 +
|-
  +
rs137852872 || GCCCAAACCCAACCCCAACCTACTCT[G/T]CTCAGACGTGTATCAGGAGATGCCC || NM_000709.3 || 1226 || T || G || 409 || K
−
|rs3837930||CTTGTCCGATTGAATACTACTAAATA [-/A] CGCAGGGATACACACATCTCTCCCT||Asn||61
  
−
|-
 +
|-
  +
rs137852871 || GTGTCCCCACAGCAGCACGAGGCCCC[A/G]GGTATGGCATCATGTCAATCCGCGT || NM_000709.3 || 868 || G || A || 289 || R
−
|rs2288872||agagcaagactccgtctcaaaaaaat [A/G] taaaacaaaaTAAGCCAATACTGGA||Arg||61
  
−
|-
 +
|-
  +
rs137852870 || GCCACCTGCAGACCTACGGGGAGCAC[A/T]ACCCACTGGATCACTTCGATAAGTG || NM_000709.3 || 1312 || T || A || 437 || W
−
|rs76846304||TGAGATCCTGTCTCAAAAAAAAAAAA [-/A] AGGAAATTGAAGTCAAAGAGGGAAG||Asn||101
  
−
|-
 +
|-
  +
rs114716391 || CTCACCACCCTCTCATCCCCTGCAGC[G/T]GTGGGGGCGGCGTACGCAGCCAAGC || NM_000709.3 || 648 || G || T || 216 || K
−
|rs74844919||CAGGGTTTTTGTTTTGTTTTGTTTTT [-/T] TKTTTTTTCGAGGTGGAGTTTTGCT||Asn||101
  
−
|-
 +
|-
  +
rs111855817 || TGCCCTCCTGCTGCTGCGGCAGCCTG[A/G]GGCTCGGGGACTGGCTAGATCTGTG || NM_000709.3 || 86 || G || A || 29 || R
−
|rs79441216||AGGGTTTTTGTTTTGTTTTGTTTTTT [G/T] TTTTTTCGAGGTGGAGTTTTGCTCT||Lys||101
  
−
|-
 +
|-
  +
rs80014754 || CTCTGCTCTCTTCCCCAGCACCCCCC[A/C]AGGCAGCAGCAGCAGTTTTCATCTC || NM_000709.3 || 117 || C || A || 39 || M
−
|rs72544848||TTTTGGGGCACAGCTAGATCCAGGGG [-/C] GTCTTCCAGGCAGGAAGTAGAGGGA||Asn||101
  
−
|-
 +
|-
  +
rs62637712 || TTTTCTCTCTCTCTTTCTTTCTGTAC[C/T]TCTCTTTCCTTTTTCTTTTTTTTTC || NM_000709.3 || 114 || C || G || 38 || B
−
|rs79327728||TCCCGAGTAGCTGGGATTACAGGCAT [A/G] CACCACCATGCCTGGCTAATTTTGT||Arg||101
  
−
|-
 +
|-
  +
rs61737367 || TCCACGCCCACCTCTGAGCAGTATCG[C/T]GGCGATGGCATTGGTATGGGCTCTG || NM_000709.3 || 840 || C || T || 280 || Y
−
|rs72544849||AGTATGGACCAGAGGATGTGRGGGGG [-/G] GAGCTGTGTGGTGTCTTGAGGCAGG||Asn||101
  
−
|-
 +
|-
  +
rs61736656 || ATTACTGGGATAAACAGGACCACCCC[A/G]TCTCCCGGCTGCGGCACTATCTGCT || NM_000709.3 || 1081 || A || G || 360 || R
−
|rs75568330||TTTTTTTGACTTGCCCTAATCTTAGG [-/A] GTATTTACTTGTGTGGAGAGATGCA||Asn||101
  
−
|-
 +
|-
  +
rs55940366 || GCTGTGGCAGAGAACCAGCCCTTCCT[C/T]ATCGAGGCCATGACCTACAGGTGCC || NM_000709.3 || 975 || C || T || 325 || Y
−
|rs77987454||CTAGCCTTCAGTTCAGGGCATGATTT [A/G] GAGCAAATGTTCAGTATCTGTTTAA||Arg||101
  
−
|-
 +
|-
  +
rs34956071 || TAGGTGTGCTGATGTATCGGGACTAC[C/T]CCCTGGAACTATTCATGGCCCAGTG || NM_000709.3 || 508 || C || T || 169 || Y
−
|rs75747655||TATGGGATAGGTGTTAACTGTTTTCA [C/T] CCCAGTTTTTCAGATGGGGAAACTG||Tyr||101
  
−
|-
 +
|-
  +
rs34589432 || CCTCTGCTCTCTTCCCCAGCACCCCC[A/C]CAGGCAGCAGCAGCAGTTTTCATCT || NM_000709.3 || 116 || C || A || 39 || M
−
|rs75610485||TCGCAGCTCACTGCAGCCTCCTTCTC [C/T] CAGCTTCAAGCAATTCTCCTGCCTC||Tyr||101
  
−
|-
 +
|-
  +
rs34541442 || TAGCGATCGCTGCAGCGAGGGTCTGG[A/C]GGCTAAACCGTGGTTTGAGCCAGGC || NM_000709.3 || 34 || C || A || 11 || M
−
|rs75905923||TGGAGTACAATGGCACGATCTCGGCC [C/T] ACTGCAACTTCTGCCTCCCAGGTTC||Tyr||101
  
−
|-
 +
|-
  +
rs34492894 || GTGTATCAGGAGATGCCCGCCCAGCT[C/T]CGCAAGCAGCAGGAGTCTCTGGCCC || NM_000709.3 || 1260 || C || T || 420 || Y
−
|rs76715304||CACTGAAGTATGGACCAGAGGATGTG [A/G] GGGGGGAGCTGTGTGGTGTCTTGAG||Arg||101
  
−
|-
 +
|-
  +
rs34442879 || GGGGAGTGCCGCCGCCCTGGACAACA[C/T]GGACCTGGTGTTTGGCCAGTACCGG || NM_000709.3 || 452 || C || T || 151 || Y
−
|rs75348131||CCCAAGCTGGAGTGCAGTGGCACGAT [C/T] TCGGCTCACTGCAACCTCCACTTCC||Tyr||101
  
−
|-
 +
|-
  +
rs28940288 || ACTTCGGCGAGGGGGCAGCCAGTGAG[A/G]GGGACGCCCATGCCGGCTTCAACTT || NM_000709.3 || 730 || G || A || 243 || R
−
|rs78441720||CTATGGGATAGGTGTTAACTGTTTTC [A/T] TCCCAGTTTTTCAGATGGGGAAACT||Trp||101
  
−
|-
 +
|-
  +
rs17173144 || TTGTTAGCCAAGATGGCGGTAGCGAT[C/T]GCTGCAGCGAGGGTCTGGCGGCTAA || NM_000709.3 || 15 || C || T || 5 || Y
−
|rs77449630||CTGCCATTGGGAGTGTAATTTCCTCA [C/G] GACTACAAATGCAAATAAATACACA||Ser||102
  
−
|-
 +
|-
  +
rs11549938 || TCTCTGGAATCCCCATCTACCGCGTC[A/C]TGGACCGGCAAGGCCAGATCATCAA || NM_000709.3 || 244 || A || C || 81 || M
−
|rs79447197||ACCTCTCTTTCCTTTTTCTTTTTTTT [C/T] CTTTTTTGAGACAGAGTTTCACTCT||Tyr||102
  
−
|-
 +
|-
  +
rs11549937 || ATCAACCCCAGCGAGGACCCCCACCT[C/G]CCGAAGGAGAAGGTGCTGAAGCTCT || NM_000709.3 || 291 || G || C || 97 || S
−
|rs74372796||AAGTGAGACCTGCTCAGCCCACCCCC [A/C] CCCATCCTCAGCTACCCCGAGAGGT||Met||102
  
−
|-
 +
|-
  +
rs10404506 || ATCTCCTCTCCACTGGCCACGCAGAT[C/T]CCTCAGGGTGAGGATGCATGCCCTG || NM_000709.3 || 639 || C || T || 213 || Y
−
|rs76878345||TAATTTTTAAAATTTTTTGTAGAGAT [C/G] TGATCTCAGGCTGGTCTTGAACTCC||Ser||102
  
−
|-
 +
|-
  +
rs284652 || CACCTGTAGGTCATGGCCTCGATGAG[A/G]AAGGGCTGGTTCTCTGCCACAGCCC || NM_000709.3 || 972 || C || T || 324 || R
−
|rs75733136||AGGCTGCAGCCAGGACCCCGAGGGCT [G/T] GACCCTGTTCCATTTTCAGCACGGA||Lys||102
  
−
|-
 +
|-
  +
rs4674 || ATCTCCTGATACACGTCTGAGAAGAG[C/T]AGGTTGGGGTTGGGTTTGGGCTTCC || NM_000709.3 || 1221 || A || G || 407 || Y
−
|rs78393603||ATGTAAATGCCACCATTCCCAGCTAA [A/T] TTTTTTTTTTTTTTTTAGATAGAGT||Trp||102
  
−
|-
 +
|-
−
|rs75969121||CAGGCTGGTCTTGAACCTGAGTTCAA [C/G] TGATCTGCCCACCTTGGCCTCTCAA||Ser||102
  
−
|-
  
−
|rs79430127||ACATGTAAATGCCACCATTCCCAGCT [A/T] ATTTTTTTTTTTTTTTTTAGATAGA||Trp||102
  
−
|-
  
−
|rs77558911||AAATTTTGGGTAGATAGATTTTTTTT [C/T] CTCCAAATCTCTGTGCATTCTATCT||Tyr||102
  
−
|-
  
−
|rs284656||TGTGTCCTGGCTCTGTGTCCTTGGCA [C/T] GTTGCCCTCCACTTCCTTGTCTTTG||Tyr||157
  
−
|-
  
−
|rs116827405||ATGAGATTTGAGTGGGGACAGAGACA [A/G] ACCATGTCAGTGTGTATTGTGGGAT||Arg||201
  
−
|-
  
−
|rs4803463||CAATCATGAGAAATACTTACTCACTA [C/G] TTGTGTTTATGAAACattatgtgcc||Ser||201
  
−
|-
  
−
|rs114279979||TCAGACACATCCACCTGCTCCTCTCC [C/T] GCCTCCCTCTGCTACCAAGCTGGGC||Tyr||201
  
−
|-
  
−
|rs79041147||TTTTGGGGCACAGCTAGATCCAGGGG [C/G] TCTTCCAGGCAGGAAGTAGAGGGAA||Ser||201
  
−
|-
  
−
|rs4803464||GAGCCCCAGCCAGACTGCTTGTCAGA [A/G] Ccctgcttggcttctcgccctggat||Arg||201
  
−
|-
  
−
|rs77124294||TTTTCACATCTTGAGGCACTGAATGG [C/T] TTACAAATCCAACTCTAATTTTTTA||Tyr||201
  
−
|-
  
−
|rs12327776||TGTGAGTTAACTTAGCAACTTTTCAC [A/G] TGGTGTTCTGCAGccttcttacaga||Arg||201
  
−
|-
  
−
|rs114716391||CTCACCACCCTCTCATCCCCTGCAGC [G/T] GTGGGGGCGGCGTACGCAGCCAAGC||Lys||201
  
−
|-
  
−
|rs117300044||AGCCCAGGAGTTCAAGACCAACCTGG [A/G] TGACATCGTGAGACGCTGTCTCAAT||Arg||201
  
−
|-
  
−
|rs112542121||TGCTGTTATTTGGTTCATAATGATGA [-/TT] TTTTTTTTTTTTTTCGAGACAGGGT||Asn||201
  
−
|-
  
−
|rs118171954||TTGCCTGATTTTCACCTCCCTTCCTG [C/T] CTCTGTTATCATAGCAGACGTTTTA||Tyr||201
  
−
|-
  
−
|rs116647608||GAGTGCAGCAGCATGATCTTGACTTA [C/T] TGCAATCTCTGCCTGCCGAGTTCAA||Tyr||201
  
−
|-
  
−
|rs76458824||TAGTCCCGGCAGTTGCTGCCTGCGGG [A/G] GATTGAGACCTCTGTTAACAGAGGA||Arg||201
  
−
|-
  
−
|rs1473248||AAGAAGGTCCAAGGGACTGATACAGG [A/G] CCTTGGAATCAGGCTTTCTCAGAAT||Arg||201
  
−
|-
  
−
|rs118051219||AGAGAGCTCCCTCTGAATAATGTTCC [C/T] GGTCTGAGTGCTTGCAGCATTGATC||Tyr||201
  
−
|-
  
−
|rs114843826||GGTAAGAACCTGAGTCAACAAAGGTG [A/G] GGTCATGGGCCCAGGCCACATTCTC||Arg||201
  
−
|-
  
−
|rs10406198||CTGGCAGTTCTAAGCAGTCTGGCAGC [A/G] TCTTCTTAAAGGCAGGAACCCCAGC||Arg||201
  
−
|-
  
−
|rs80014754||CTCTGCTCTCTTCCCCAGCACCCCCC [A/C] AGGCAGCAGCAGCAGTTTTCATCTC||Met||201
  
−
|-
  
−
|rs115268914||CTCTCTCGCCTAGGCTGGAGTGCAGC [A/G] GCATGATCTTGACTTACTGCAATCT||Arg||201
  
−
|-
  
−
|rs114008162||GGATGTCTAGGAGCCTGAATCTCAGC [A/G] TTGGAAGCCCAGTTCTGATGTAATT||Arg||201
  
−
|-
  
−
|rs79985915||CTATAGGTAAGACTTGCCCTAATCTT [C/T] TTTTTTTTTTTTTTTTTGACTTGCC||Tyr||201
  
−
|-
  
−
|rs77667400||CTGCCGCTTTCCACTTGTGTAGCCTT [G/T] GCCAACGGACTGCACTTCTCTGGAT||Lys||201
  
−
|-
  
−
|rs55940366||GCTGTGGCAGAGAACCAGCCCTTCCT [C/T] ATCGAGGCCATGACCTACAGGTGCC||Tyr||201
  
−
|-
  
−
|rs114160048||GAGGGGGCATTTAGGGGGCATTTGAG [C/T] TAAAGGTAATAGGGTTTCCACAAGG||Tyr||201
  
−
|-
  
−
|rs78664582||GCTCTATAGGTAAGACTTGCCCTAAT [C/T] TTTTTTTTTTTTTTTTTTTTGACTT||Tyr||201
  
−
|-
  
−
|rs78994114||AGTCCCGCAGGAAGGTGAGGGTGCCC [C/T] GCCCGGGAGGGTGTGCTGGGGGCTG||Tyr||201
  
−
|-
  
−
|rs112312448||GGGCTGTGGCAGAGAACCAGCCCTTC [-/C] TCATCGAGGCCATGACCTACAGGTG||Asn||201
  
−
|-
  
−
|rs117961146||CCGCCTCTCCACCAGCCTGTGAGGTG [A/G] ATGCCATCCCCACGAGGGCACGCAG||Arg||201
  
−
|-
  
−
|rs2241710||GGCACCCCAGTGTGCTCCACATACTG [C/G] AGCTGGGTCTCGGCTGTACCCTCCT||Ser||201
  
−
|-
  
−
|rs114459633||GGCGTAAGCCACTGCCCAGCATCCCC [A/C] CCTTTTTTTTTTTTTTTTTAAATTT||Met||201
  
−
|-
  
−
|rs113901068||CGAGTTCAAGCAATTCTCCTGCCTCA [A/G] CCTCCCTAGTAGCTGGGATTACAGG||Arg||201
  
−
|-
  
−
|rs117950460||GAGAAATGTATTAATAATACTTTAGT [C/T] CCGGCAGTTGCTGCCTGCGGGAGAT||Tyr||201
  
−
|-
  
−
|rs115971313||CCGTGGGTCATGTGAGTGTGAATGAG [C/T] GTGAGTGCATGTGAGTCTCCGCCCC||Tyr||201
  
−
|-
  
−
|rs117379765||ACGGGAAAGCCAGGCCTGGGAACACA [G/T] GGAGGAGGGCACCGCCGAGCCGCGA||Lys||201
  
−
|-
  
−
|rs114198932||TTCCTTTTCTCTTCTCTTTTCTCTCT [C/G] TCTTTCTTTCTGTACCTCTCTTTCC||Ser||201
  
−
|-
  
−
|rs115211514||GAAGCGTATGTAGCAGTTTGCCAGGC [A/G] ATAGGGAAAGAGACCTTCTTGTAAA||Arg||201
  
−
|-
  
−
|rs75023451||AGAGCGGGCAGGTTGTGCTTTCCTGC [A/G] TGGTGGGAGAGGACGTGGCATGAAG||Arg||201
  
−
|-
  
−
|rs78727437||GTCTGTGCTCCAGACTTCTTCTTCTT [A/G] TTTTTTTCTTTTTTGAGACGGAGTC||Arg||201
  
−
|-
  
−
|rs79568656||TCACAGGCTGCATAGGGCCTTGTATT [C/T] CTTTGCTCCTTTGCCACAATTCTGA||Tyr||201
  
−
|-
  
−
|rs77623540||TCCTGCCAGAGCTGCGGCAGGTGCTT [C/T] CCCCGCCTCTCCACCAGCCTGTGAG||Tyr||201
  
−
|-
  
−
|rs62637712||CTCCTCTGCTCTCTTCCCCAGCACCC [C/G/T] CCCAGGCAGCAGCAGCAGTTTTCAT||B||201
  
−
|-
  
−
|rs111950596||AGGAGTTTGATACCAGCCTGGGCAAC [A/G] TGGCGAGACCCCCATCTCTAAAAAA||Arg||201
  
−
|-
  
−
|rs78673509||AAATAGACAGGTTTGCTTCAGTCCGG [A/G] ATGCAAGGACCTAGAGGGTGTGTGT||Arg||201
  
−
|-
  
−
|rs117030761||GGCCCCACATGCTCTAGGAGGGCAAA [C/T] GCCCTGTGGTGTTTGTCTAAGGTCT||Tyr||201
  
−
|-
  
−
|rs116993920||CAGGCTAGAGTGCTATGGCGCAATCT [C/T] GGCTCACTGCAACCCCCACCTCCCG||Tyr||201
  
−
|-
  
−
|rs114278248||GCTACCAGTTATTGACTTGCCAGCCA [C/T] TTGATTGAGTCATTTAACCTCACAA||Tyr||201
  
−
|-
  
−
|rs75557216||CCAGGCCTGAATCTGCCCTGCCATTG [C/G] GAGTGTAATTTCCTCACGACTACAA||Ser||201
  
−
|-
  
−
|rs116948250||ACTCTAGCCAAAGTGAGATCCTGTCT [A/C] AAAAAAAAAAAAAAGGAAATTGAAG||Met||201
  
−
|-
  
−
|rs75840909||GGGTGGGGGTGCAGATGGTGCAGGTT [G/T] GGTGGGGCCTCAAGGCCTTTGCCTG||Lys||201
  
−
|-
  
−
|rs78924883||CAGTATCTGTTTAACAAGAACAATCA [C/T] GAGAAATACTTACTCACTACTTGTG||Tyr||201
  
−
|-
  
−
|rs117989172||TCTTTAAAAATTTTTTCTTTTTTTTT [C/T] CCTTGAGACAGGTCTTACTTTGTCA||Tyr||201
  
−
|-
  
−
|rs113649978||TTCTATTTTTAGTGGGTACAGGGTTT [C/T] GCCATGTTGGCCACATTGATCTCGA||Tyr||201
  
−
|-
  
−
|rs79245900||TAGCCCAGATTGGAGTGCAGTGGCAC [G/T] ATCTCAGCTGCCTGCAGCCTTGAAC||Lys||201
  
−
|-
  
−
|rs117069153||TTTGTTTGATTCCTGTGTCTCTTGAT [C/T] GAATATCAAGACAGAGAATTCGTGT||Tyr||201
  
−
|-
  
−
|rs113934297||CTAGGATTACAGGCGTAAGCCACTGC [-/CCAGCAT] CCAGCATCCCCACCTTTTTTTTTTT||Asn||201
  
−
|-
  
−
|rs76070674||TTTCAAACTACATCCAGAATCTCATC [A/C] CCTCCACTACTCCTGCTCTGGCTGG||Met||201
  
−
|-
  
−
|rs77949523||TTTTTTGTGTGTGTGGCAGGGTCTCT [A/G] TTGCCCAGGCTGGGATGTGTTGGTG||Arg||201
  
−
|-
  
−
|rs117817570||GTGCAGTGGCACGATCTCAGCTGCCT [A/G] CAGCCTTGAACTTCTGGGCTGAAGC||Arg||201
  
−
|-
  
−
|rs114502373||TGTCCTGTCCCTGCCCTTCTCTGTGC [A/C] TCAGTTTCCTCATTGCTTAGCTGTC||Met||201
  
−
|-
  
−
|rs2288870||CCTTTAGCTCAAATGCCCCCTAAATG [C/T] CCCCTCCTCTGAGAAAGCTTCCCTG||Tyr||201
  
−
|-
  
−
|rs10404506||ATCTCCTCTCCACTGGCCACGCAGAT [C/T] CCTCAGGGTGAGGATGCATGCCCTG||Tyr||201
  
−
|-
  
−
|rs113733825||TGAGCATTTATAGGCTTCTCACAGGT [-/CTC] CTGGGCTTTCTCAGCCATTCCTCAT||Asn||201
  
−
|-
  
−
|rs115015681||ATACCTGTATGAGCACTTTGGGAGGA [C/G] GATTGCTTGAGCCCAGGAGTTCAAG||Ser||201
  
−
|-
  
−
|rs114481527||CTCACTATGTTGCCTAGGCTGATCTC [A/G] AACCACTGGCCTTAAGTGATCCTCC||Arg||201
  
−
|-
  
−
|rs112156740||TCTGCCCCTCCTCTCATTCTCAGAGA [C/T] AGTTACAAAGATGGAACTATCTTCT||Tyr||201
  
−
|-
  
−
|rs74586298||ACACTGACCTGGGGCCCCTTGCCCCT [A/G] TGCAGGATCGGGCACCACAGCACCA||Arg||201
  
−
|-
  
−
|rs11671704||TGTGCTGAGCACTGCACCTGTTTTTG [C/T] TGAAGGGTTCTCTTGTGAGGGCACC||Tyr||201
  
−
|-
  
−
|rs117396977||CCCCCTCTTCACCTGTTGTTACAGTG [C/T] CTTCTCCCAGGGGCTGGGTGAGGGC||Tyr||201
  
−
|-
  
−
|rs117196001||TATTATATTTAATACACCAATAGTGC [A/G] AGGCCTTTATTGGTAGTACTCTCCT||Arg||201
  
−
|-
  
−
|rs79740365||CTGTTTCTATCTGTTACATATGCAGC [A/C] CAGCCACATCTTGTGTGGATTTGTA||Met||201
  
−
|-
  
−
|rs114320868||GTGAAAGATCCACCCCCATAATTCAA [A/T] TACCTCCCACTGGCTCCTTCCCACA||Trp||201
  
−
|-
  
−
|rs114191970||CTTTGCCTGTTACAGGAGTAACTACA [A/G] TGAGGCGATTGGAGAAAATTTTGGG||Arg||201
  
−
|-
  
−
|rs114178789||GAACTGTCCCCCTGTACTGCCCACTC [A/G] GCTAACCATTGCCTCCTCCCCTCCT||Arg||201
  
−
|-
  
−
|rs116710207||ATTTGCTCTTGTTCCTGTTTTCAAGA [A/G] CAGGATGCCCGTGTTTTGTGTGTGT||Arg||201
  
−
|-
  
−
|rs115062082||TTTTGTAGAGATGTGATCTCAGGCTG [A/G] TCTTGAACTCCTGGGCTCACCTGGG||Arg||201
  
−
|-
  
−
|rs10421626||GAAGCCCCTCTGGGCATGGGGTGGAC [A/G] TGGCAGGTCAGCCTGTGGAACTTGC||Arg||201
  
−
|-
  
−
|rs115313500||ATGGTGCAGGGTTTTTGTTTTGTTTT [G/T] TTTTTTGTTTTTTCGAGGTGGAGTT||Lys||201
  
−
|-
  
−
|rs115280847||ACTTATTCAGTATAATGAGAACAGCA [C/T] GTGAAAGATCCACCCCCATAATTCA||Tyr||201
  
−
|-
  
−
|rs112907023||TTTTTCAGAGACGAGGGTTTTGCCTA [A/G] GCTGGACTCACTATGTTGCCTAGGC||Arg||201
  
−
|-
  
−
|rs75551567||GCCGCTTTCCACTTGTGTAGCCTTGG [C/G] CAACGGACTGCACTTCTCTGGATCT||Ser||201
  
−
|-
  
−
|rs284648||CTAGATCAGGCTACAGGCCCCGGAGG [A/G] CAGGAAGGGGCTCCGATTCCTTGTT||Arg||201
  
−
|-
  
−
|rs118080024||ATATTTCTTTTTTTTTTTTTTTTTTA [C/T] TTTTGAGATGGAGTTTTGCTCTTGT||Tyr||201
  
−
|-
  
−
|rs116309564||CATCTCTGCGCCTGGCTCTCTACCAC [C/T] TCTGGTCTTTGTTTCCTGGAGTTTG||Tyr||201
  
−
|-
  
−
|rs79955062||GGATTTGTATTATGTCCATTCAAAAG [C/T] ATGTGTCAGAAAATACCAGTAAACC||Tyr||201
  
−
|-
  
−
|rs116023298||GAAAGAAGAGAACAGGTCCCTGTCAC [A/C] GGCTGCATAGGGCCTTGTATTTCTT||Met||201
  
−
|-
  
−
|rs117607126||CGCCTGGCTAATTTTTGTATTTTTGG [C/T] AGGGACGAGGTTTCACCATGTTGTC||Tyr||201
  
−
|-
  
−
|rs115930134||TATAGGGATCAGAAGAGAGCTGGTCT [A/G] TATGCCTAGAGGGCATCCTGCAGTG||Arg||201
  
−
|-
  
−
|rs116221568||TAATAGGGTTTCCACAAGGCTGGGGC [A/G] TGGCCCTAACCTTCCCTCTGGGTCC||Arg||201
  
−
|-
  
−
|rs114587707||AGCCCCGAATCTAGCCTACGTGAGTG [C/G] CGGACCGCTGAGTGGTTGTTAGCCA||Ser||201
  
−
|-
  
−
|rs117815282||AGGCGTAAGCCACTGCCCAGCATCCC [C/T] ACCTTTTTTTTTTTTTTTTTAAATT||Tyr||201
  
−
|-
  
−
|rs111259136||GCGCCGGGCTGGGCCATCCTCCTGGG [C/T] GTCCGCACGTGGCTTAGCGTTTACC||Tyr||201
  
−
|-
  
−
|rs75448330||TCCACCTGCTTGCCCACACCAGAAAC [C/G] TCATCTCATCCCTGTCTCCTCCCTC||Ser||201
  
−
|-
  
−
|rs115695485||CCAGGCTTTCTTCTCTTGCCTTGGAG [C/T] CTTGGTTTTTCCCTAGGACTGAAGT||Tyr||201
  
−
|-
  
−
|rs13343330||CGAGGCCATGACCTACAGGTGCCTGC [C/T] GCTCCCCCCGTCAGCACCCCCACAG||Tyr||201
  
−
|-
  
−
|rs112835313||CCAGCTAATTTTTTTTTTTTTTTTTA [G/T] ATAGAGTCTCACTCTTGTCACCCAG||Lys||201
  
−
|-
  
−
|rs111992248||CTCTATAGGTAAGACTTGCCCTAATC [-/TTTT] TTTTTTTTTTTTTTTTGACTTGCCC||Asn||201
  
−
|-
  
−
|rs115099615||TCCCTTTGAGCATTTATAGGCTTCTC [A/G] CAGGTCTCCTGGGCTTTCTCAGCCA||Arg||201
  
−
|-
  
−
|rs10407077||TCCACTCCTCCTTCCCTAGTTCATCC [C/T] CCATCCTCCCTCCTGACCCCCACTC||Tyr||201
  
−
|-
  
−
|rs77637491||TCCTGTTTCTATCTGTTACATATGCA [C/G] CACAGCCACATCTTGTGTGGATTTG||Ser||201
  
−
|-
  
−
|rs115611992||GGGGGACTCAACTCTTTGCTCTGTTT [C/G] AGGGCAGAGTGCCTTTGAGCTCAGG||Ser||201
  
−
|-
  
−
|rs78878158||CTCTAAAATACTCAGCGGCCAGGGCG [C/G] CTGCCACTCTTCACCCCTGCTCCTC||Ser||201
  
−
|-
  
−
|rs10410801||ATCCAGTCAAGCCAGTGTCAACAAAG [A/C] GGGAAGTTATTGACTCCAATGACCA||Met||201
  
−
|-
  
−
|rs114054661||TTGGCCTCCAAAAGCATGAGCCACTG [C/T] GCCTAGCCTTTTCTTTTTTTGAGAC||Tyr||201
  
−
|-
  
−
|rs114855860||AGGTGGATGCCATCCCCACGAGGGCA [C/T] GCAGGTTCACAGAGACTGGCTCCTG||Tyr||201
  
−
|-
  
−
|rs78460242||TAATGTTTTGATTTTTTTTTTTTTTT [G/T] TAGAAGCGAGGCCTCACCATGTTGC||Lys||201
  
−
|-
  
−
|rs117138963||TTTCACCTCCCTTCCTGTCTCTGTTA [A/T] CATAGCAGACGTTTTAGTGCTCAGG||Trp||201
  
−
|-
  
−
|rs117316804||AAATACACGAAGTTCCTGCCATGTGC [C/T] GGTGCCACTCCAAGTGCAGGGAACA||Tyr||201
  
−
|-
  
−
|rs9710116||GTCTGGCACTTGGTCAGCCACAGGAG [C/T] TGAGGTCCTGAGCACTCAGCCTTGC||Tyr||201
  
−
|-
  
−
|rs75381316||CCTAGTATCAGGGACAAGGATCCAGT [A/C] AAGCCAGTGTCAACAAAGAGGGAAG||Met||201
  
−
|-
  
−
|rs11671665||AAGATTTCCAGACACCAGGCAGCAAG [C/T] TGGGCCCCCGCCAGCTGTGCTGAGC||Tyr||201
  
−
|-
  
−
|rs118107394||ATGGACCAGAGGATGTGAGGGGGGAG [A/C] TGTGTGGTGTCTTGAGGCAGGTGTG||Met||201
  
−
|-
  
−
|rs78570624||CGAACTCCTGACCTCAAGTGAGATTC [C/G] CCTGCCTCTGCCTCCTAAAGGCAGT||Ser||201
  
−
|-
  
−
|rs75018879||CCAGTGGTGTTGCCTCATTGAGGCAC [C/G] TCCCCCATCCATGTGAGGCAGGAGA||Ser||201
  
−
|-
  
−
|rs75757179||AGAGATGCAGTGAGGTAGCGGTGGGG [A/G] TGTATTTCTCAACCCAGCGCAATGA||Arg||201
  
−
|-
  
−
|rs78812877||GAGTGGTTAATTCCTTGCCAAGGCCC [C/T] GCAGGAGGAAGCAGGGTCCTGCATG||Tyr||201
  
−
|-
  
−
|rs116080069||CTGTCTCTGCCTTCCTGGGATTGTGG [C/T] GTGTGTGGGAGACAGACACGAAACA||Tyr||201
  
−
|-
  
−
|rs76383353||CGCTAGAACTGTGGACAGCTTGTTCA [C/T] TGCAGTTAAAGGAAGACGGAGGGAC||Tyr||201
  
−
|-
  
−
|rs7258787||TGTAGTCCAGAAGTTGTAAATTAGTG [G/T] TCTATGCTGTTATTTGGTTCATAAT||Lys||201
  
−
|-
  
−
|rs16975216||CCTAGCTAGTGGGGTGAATAGAGTCC [A/C] TACCCTGTTGGAAGTCAGGAAGCCC||Met||201
  
−
|-
  
−
|rs75452443||GTTAGGGGATTTGGGAGAAGGGAACT [G/T] GGCACTGGTGTGGCCAGCTGACAGG||Lys||201
  
−
|-
  
−
|rs74512011||GCAAGGGAGGCCAGGGACCTGAGTGC [G/T] TGTCTTTTTGAGGCTCAGGTTAGGG||Lys||201
  
−
|-
  
−
|rs112502758||TGGTGCAGGGTTTTTGTTTTGTTTTG [-/T] TTTTTTGTTTTTTCGAGGTGGAGTT||Asn||201
  
−
|-
  
−
|rs78812076||GAGGGTGGAGGGAAGGGACAGAAACT [A/G] ACCTTGGAGATGGGGAGAAGAAAGG||Arg||201
  
−
|-
  
−
|rs75694368||CCCCTGATAAATCCTAGTATCAGGGA [A/C] AAGGATCCAGTCAAGCCAGTGTCAA||Met||201
  
−
|-
  
−
|rs114910270||CTAATCTGCACGCCTTTCCCTTCTCA [C/T] GAGATATTCTGGGAAGGGGGACTCA||Tyr||201
  
−
|-
  
−
|rs284650||CACTTCAAATACACGAAGTTCCTGCC [A/G] TGTGCCGGTGCCACTCCAAGTGCAG||Arg||208
  
−
|-
  
−
|rs57341563||GTGGGGCAGGAGGTGGGCAGGACTGG [A/G] GCAGGCTAGGGAAAGGTCATTTATG||Arg||223
  
−
|-
  
−
|rs55748223||TCACTTTTTTTTTTTTTTTTTTTTTT [-/T] GAGCAGTTCATATCCTCCACAGCTG||Asn||223
  
−
|-
  
−
|rs4802116||TGTTTTTTCCCCTTTATTTCTCCCAC [C/T] TGTTCTTTctctcttcttctttctt||Tyr||226
  
−
|-
  
−
|rs56189158||AACTCTTTGCTCTGTTTGAGGGCAGA [A/G] TGCCTTTGAGCTCAGGAGAGAGTGG||Arg||247
  
−
|-
  
−
|rs10426536||tatcactttgttgcccaggctggagt [A/G] caatggtgcagtcatggctcactgc||Arg||250
  
−
|-
  
−
|rs111855817||TGCCCTCCTGCTGCTGCGGCAGCCTG [A/G] GGCTCGGGGACTGGCTAGATCTGTG||Arg||251
  
−
|-
  
−
|rs3810175||TGTCTCTTGATCGAATATCAAGACAG [A/G] GAATTCGTGTGTTCTGGACACTGTA||Arg||251
  
−
|-
  
−
|rs3810174||AGGCTCCTTGGAGGAACAGGGGAAGA [C/T] CGCAAGACCTTCTCCCTCAGGGTTT||Tyr||251
  
−
|-
  
−
|rs71334984||TTTTGAGATGGAGTCTCGCTCTGTTG [-/C] CCCAGGCTGGAGTGCAGTGGCGCGA||Asn||251
  
−
|-
  
−
|rs76230844||TTTTTTGACTTGCCCTAATCTTAGGG [A/G] TATTTACTTGTGTGGAGAGATGCAG||Arg||251
  
−
|-
  
−
|rs28940288||ACTTCGGCGAGGGGGCAGCCAGTGAG [A/G] GGGACGCCCATGCCGGCTTCAACTT||Arg||251
  
−
|-
  
−
|rs60715253||GGGCCTGTAGCCTGATCTAGGGTTGG [C/T] CTGGGCCCTGGCTTCTTTGCCCTAG||Tyr||251
  
−
|-
  
−
|rs111705372||GCACTGGTCCTCACCGATGCCCTTCC [A/G] TGGTGGAACAGGTGCTTCCTTTGGG||Arg||251
  
−
|-
  
−
|rs113111906||TTTTTTTTTTTTTTTTTTTTTTTTTT [C/T] TTGGTCTGAGACGGGGTTTCACTCT||Tyr||251
  
−
|-
  
−
|rs62117494||CATGGGGTTTCACCATGTTGGCCAGG [A/C] TGGTCTCAGCCTCCCGAAGTGTTGG||Met||251
  
−
|-
  
−
|rs62117493||AGACAGCATGTTGCTCTGTTGCCCAG [A/G] CTGGAGTGCAGTGGTGTGATCATGG||Arg||251
  
−
|-
  
−
|rs62117495||TTTGTAGCCCAGATTGGAGTGCAGTG [A/G] CACGATCTCAGCTGCCTGCAGCCTT||Arg||251
  
−
|-
  
−
|rs73931473||TTCTGATTTTAAAATGAATTGTGTAA [A/G] AAATTTGTTTGATTCCTGTGTCTCT||Arg||251
  
−
|-
  
−
|rs73931479||CCCCTACCTGTGTTTGGGCCAAAGGA [A/G] TGGCTCCCAAGGAGGACAGATTCTT||Arg||251
  
−
|-
  
−
|rs73931475||AGGTGAGGTCTGAACTTGGAGCTCTG [C/G] ACTCCAAAACCCAGTTTCTTTTCAT||Ser||251
  
−
|-
  
−
|rs73931477||AGACTCTGGCCTCCCCTCTTAGTGCC [C/T] GTCTGAAGACTTCAGCCTTCGGTCC||Tyr||251
  
−
|-
  
−
|rs137852872||GCCCAAACCCAACCCCAACCTACTCT [G/T] CTCAGACGTGTATCAGGAGATGCCC||Lys||251
  
−
|-
  
−
|rs137852873||TTGAGTGCCCCATCATCTTCTTCTGC [C/T] GGAACAATGGCTACGCCATCTCCAC||Tyr||251
  
−
|-
  
−
|rs137852870||GCCACCTGCAGACCTACGGGGAGCAC [A/T] ACCCACTGGATCACTTCGATAAGTG||Trp||251
  
−
|-
  
−
|rs137852871||GTGTCCCCACAGCAGCACGAGGCCCC [A/G] GGTATGGCATCATGTCAATCCGCGT||Arg||251
  
−
|-
  
−
|rs137852876||CTTGAGTGCCCCATCATCTTCTTCTG [C/G] CGGAACAATGGCTACGCCATCTCCA||Ser||251
  
−
|-
  
−
|rs137852874||CAGCCAGTGAGGGGGACGCCCATGCC [A/G] GCTTCAACTTCGCTGCCACACTTGA||Arg||251
  
−
|-
  
−
|rs137852875||TGATGTGTTTGCCGTATACAACGCCA [C/G] AAAGGAGGCCCGACGGCGGGCTGTG||Ser||251
  
−
|-
  
−
|rs71181107||TCATAATGATGATTTTTTTTTTTTTT [-/T] CGAGACAGGGTCTTGCTTTGTAGCC||Asn||251
  
−
|-
  
−
|rs7257117||AGCCAAGCCAGCCGGGTGTGGTGCAC [C/T] GTAGGGGTGGCTGGGGTCCGTCACT||Tyr||251
  
−
|-
  
−
|rs71181106||TTTTTTGTATTTTTAGTAGAGGCGGG [-/G] TTTCACCATGTTAGCCAGGATGGTC||Asn||251
  
−
|-
  
−
|rs71181108||CTCCTGACCCCCACTCCAGGGAGCCC [-/C] ACACTGACCTGGGGCCCCTTGCCCC||Asn||251
  
−
|-
  
−
|rs71181105||AGGGTTTTTGTTTTGTTTTGTTTTTT [-/T] GTTTTTTCGAGGTGGAGTTTTGCTC||Asn||251
  
−
|-
  
−
|rs3786553||CCTCCACCCTCCCACCCCCACCCCCC [A/C] CACACACACCCTCTAGGTCCTTGCA||Met||251
  
−
|-
  
−
|rs11879090||GTGCTTCCTGGAGTGCTCCAGGGGAC [C/T] GCCCTAGGCCCATGTGAAATGGGCT||Tyr||251
  
−
|-
  
−
|rs8108664||TTGAGGCGGCGCCTCAGCTACCACCT [A/G] TCTTTGATGGAGTTATGATAACAGT||Arg||251
  
−
|-
  
−
|rs112381655||GCGCCGAGCCCACGTGCGGCTGCAGT [A/T] GTCACTTCCGCCTGGCAGCGCGCGC||Trp||251
  
−
|-
  
−
|rs61737367||TCCACGCCCACCTCTGAGCAGTATCG [C/T] GGCGATGGCATTGGTATGGGCTCTG||Tyr||251
  
−
|-
  
−
|rs59777247||CATTGAATACCCTGCTGCCCTGCAGA [C/T] GTGTTTGCCTGATTTTCACCTCCCT||Tyr||251
  
−
|-
  
−
|rs73047262||TTTTCTCTCTCTCTTTCTTTCTGTAC [C/T] TCTCTTTCCTTTTTCTTTTTTTTTC||Tyr||251
  
−
|-
  
−
|rs112929552||CCGCTTTCCACTTGTGTAGCCTTGGC [A/C] AACGGACTGCACTTCTCTGGATCTA||Met||251
  
−
|-
  
−
|rs111838742||CAGAGCAAGACTATCTCTTAAAAAAA [A/G] AAAAAAGCTGGTTTGAGGATTAGGT||Arg||251
  
−
|-
  
−
|rs73931480||CAGGGTTAGGACTCTGGAGGGGGCAG [A/T] CTTCCCACTCTGAAGGCCAGAAAGT||Trp||251
  
−
|-
  
−
|rs73931484||GCAGACAGGATGGGGGTGGGGGGGTC [C/T] TCCAGAGATGGTCTCCTGCTCTCTC||Tyr||251
  
−
|-
  
−
|rs73931482||CTAGTAAGGAGGCTGCTCAGTAACTT [C/G] GGCTTGACCAGGGTGGTGCAGAGGA||Ser||251
  
−
|-
  
−
|rs73931483||CTGGTTCTCGTCCTGTGTCCTGTGGC [A/G] TCTGGCACTTGGTCAGCCACAGGAG||Arg||251
  
−
|-
  
−
|rs10425437||gctttgtagcccagattggagtgcag [C/T] ggcacgatctcagctgcctgcagcc||Tyr||255
  
−
|-
  
−
|rs17173144||TTGTTAGCCAAGATGGCGGTAGCGAT [C/T] GCTGCAGCGAGGGTCTGGCGGCTAA||Tyr||260
  
−
|-
  
−
|rs2241711||ATTCAGTGAGCTATGCAAAGGGCTCC [A/G] CGCTGTGCCTGGTCCTGAGGAAATG||Arg||268
  
−
|-
  
−
|rs11672345||AGAGACTGGCTCCTGTCCAAGGCCGC [A/G] TGGCTGGAAAGAGACAGAACCAGAT||Arg||282
  
−
|-
  
−
|rs10413735||GTCTACTGCTCACAGCTGGACCAGGC [C/T] CTTGGCCCCACATGCTCTAGGAGGG||Tyr||301
  
−
|-
  
−
|rs34956071||TAGGTGTGCTGATGTATCGGGACTAC [C/T] CCCTGGAACTATTCATGGCCCAGTG||Tyr||301
  
−
|-
  
−
|rs3213861||TAGAAGGAGATCCGGCCCTGGGGGTG [G/T] AGAGGGGACCGGGGTCCCACAATTG||Lys||301
  
−
|-
  
−
|rs3213860||GGGAAGACTGCCCCCTCCAGAGTCCT [A/G] ACCCTGGCTTGTCTCTTTCTTGCTT||Arg||301
  
−
|-
  
−
|rs35521052||TCAGCGGCAGGTGCGTGGGGACAGGA [-/C] TAGGGGCGGGGGGCTGGAATTACCT||Asn||301
  
−
|-
  
−
|rs35085046||GGGCAACGAGAGCAAGACTCCATCTC [-/A] AAAAAAAAAAATTAGCCAGGCGTGG||Asn||301
  
−
|-
  
−
|rs35214178||GGCTGCCTAGCTCCAGAGCTAAGAGT [-/C] CCCAGTGGGTTCATATCCCTTTGAG||Asn||301
  
−
|-
  
−
|rs35024134||CAACCTCCTGAGTAGCTGGGACTATA [-/G] GGTGCGTGCCACCACGCCTGGCTAA||Asn||301
  
−
|-
  
−
|rs34589432||CCTCTGCTCTCTTCCCCAGCACCCCC [A/C] CAGGCAGCAGCAGCAGTTTTCATCT||Met||301
  
−
|-
  
−
|rs34978824||GTCCCTTCCCTTATAAGAGCTTTTTT [-/G] GGGAAGCAAACCCACTGGGTGCCAG||Asn||301
  
−
|-
  
−
|rs35487663||GCGTGGCCCTAACCTTCCCTCTGGGT [-/C] CCCTGCTAAGTCACTTCAAATACAC||Asn||301
  
−
|-
  
−
|rs3217386||CTTCCCTCTACTTCCTGCCTGGAAGA [-/G] CCCCCTGGATCTAGCTGTGCCCCAA||Asn||301
  
−
|-
  
−
|rs3217385||GGCAAGGGGCCCCAGGTCAGTGTGGG [-/G] CTCCCTGGAGTGGGGGTCAGGAGGG||Asn||301
  
−
|-
  
−
|rs12983789||TCCTAACTCTGGCAACGCCATTGGAC [A/T] TTTGGGAACAGAAGGCAGGCCTTGG||Trp||301
  
−
|-
  
−
|rs34500671||TCTGGCCGCGACAGCAGGTTCTGTTC [C/G] CAGGCAAAGTGCCGGAGGCTGCAGC||Ser||301
  
−
|-
  
−
|rs34492894||GTGTATCAGGAGATGCCCGCCCAGCT [C/T] CGCAAGCAGCAGGAGTCTCTGGCCC||Tyr||301
  
−
|-
  
−
|rs36050387||GGGTCCTCCAGAGATGGTCTCCTGCT [-/G] CTCTCACAGAATGGGAGAAGCCTGC||Asn||301
  
−
|-
  
−
|rs284654||CAGTGATCGATATGAGGAAGATGCTA [C/T] GGTGGCTGTCAGTGCTGTGGGGGTG||Tyr||301
  
−
|-
  
−
|rs284655||GGGGAGATGCAACATCAGGTGATAAG [A/G] CCATGTTTTGGAGACAGTGATCGAT||Arg||301
  
−
|-
  
−
|rs284652||CACCTGTAGGTCATGGCCTCGATGAG [A/G] AAGGGCTGGTTCTCTGCCACAGCCC||Arg||301
  
−
|-
  
−
|rs284653||CTATGGTGGCTGTCAGTGCTGTGGGG [A/G] TGCTGACGGGGGGAGCGGCAGGCAC||Arg||301
  
−
|-
  
−
|rs4674||ATCTCCTGATACACGTCTGAGAAGAG [C/T] AGGTTGGGGTTGGGTTTGGGCTTCC||Tyr||301
  
−
|-
  
−
|rs6508977||CTGGATGCCTTATGGGTTCAGTGAGC [A/G] CATAGGTGTAAATAAAGTGCTTTGA||Arg||301
  
−
|-
  
−
|rs34391204||AAATTTTTCAGAGACGGGGGTTTTGC [C/T] TAGGCTGGACTCACTATGTTGCCTA||Tyr||301
  
−
|-
  
−
|rs284649||ATGCATCTCAGCTGCCCTAGGGCAAA [A/G] AAGCCAGGGCCCAGACCAACCCTAG||Arg||301
  
−
|-
  
−
|rs34541442||TAGCGATCGCTGCAGCGAGGGTCTGG [A/C] GGCTAAACCGTGGTTTGAGCCAGGC||Met||301
  
−
|-
  
−
|rs34933875||ACAGGCGTGAGCCACCATGCCTGGCC [-/T] TTTTTTTTTTTTTTTGAGGTGGAGT||Asn||301
  
−
|-
  
−
|rs12459859||ACTTTAGTCCCGGCAGTTGCTGCCTG [C/T] GGGAGATTGAGACCTCTGTTAACAG||Tyr||301
  
−
|-
  
−
|rs34919809||TTGTGTGTTCAGTGTTTGTCATTCAT [-/C] CCCTCCCTGTCTCTAGCCTTCAGTT||Asn||301
  
−
|-
  
−
|rs10409485||CGAGCACTGATAGGGCCAGGAAGGCA [C/T] ATCTTAACCCTTTGTCTTAGATGCT||Tyr||301
  
−
|-
  
−
|rs10853751||TGGGCTCGGCGCGATGGAGGAGGAGA [C/T] GCATACTGACGCCAAAATCCGTGCT||Tyr||301
  
−
|-
  
−
|rs34107638||CCTCTGGGTCCCTGCTAAGTCACTTC [-/A] AAATACACGAAGTTCCTGCCGTGTG||Asn||301
  
−
|-
  
−
|rs35547143||TTATCTTCAATTTGAGGAGTATTTAC [-/T] GTGGGTGAAAGATCCGCCACAGTCC||Asn||301
  
−
|-
  
−
|rs34169026||GGCCGCGACAGCAGGTTCTGTTCGCA [A/G] GCAAAGTGCCGGAGGCTGCAGCCAG||Arg||301
  
−
|-
  
−
|rs34442879||GGGGAGTGCCGCCGCCCTGGACAACA [C/T] GGACCTGGTGTTTGGCCAGTACCGG||Tyr||301
  
−
|-
  
−
|rs4803465||ggcgtgctcctttgcctcacctagtc [C/T] gtttctcagtgaagagcaccaccat||Tyr||303
  
−
|-
  
−
|rs2241706||tagtgagtccagcctaggcaaaaccc [C/T] cgtctctgaaaaatttttaaattag||Tyr||320
  
−
|-
  
−
|rs10408639||gaagcctcacaaacatggcggaaggc [A/G] aatgaggagcaaagtcacatcttac||Arg||328
  
−
|-
  
−
|rs13346233||GCCCCACATGCTCTAGGAGGGCAAAC [A/G] CCCTGTGGTGTTTGTCTAAGGTCTA||Arg||337
  
−
|-
  
−
|rs10414106||ACTGTCTACTGCTCACAGCTGGACCA [A/G] GCCCTTGGCCCCACATGCTCTAGGA||Arg||337
  
−
|-
  
−
|rs284658||ACGGGCCCTGGGTCCTAATGACCGGG [C/T] CAGGGAGGGTGGCACACTGACTCTG||Tyr||344
  
−
|-
  
−
|rs11670583||ACGTTCGCTGTGGGTGTGGCCTGTGC [A/T] GGAGACCCTGTCTGCCTGGTGCAGT||Trp||349
  
−
|-
  
−
|rs59991538||ACAGACCTGAGTGCGGTGCAAGATTA [C/G] AGGGGCCCGGCAAGCCCAGATGAGT||Ser||349
  
−
|-
  
−
|rs11670668||TGTGGCCTGTGCAGGAGACCCTGTCT [C/G] CCTGGTGCAGTGATCCCCTGGCCCC||Ser||349
  
−
|-
  
−
|rs58786677||CATACAAAAATTAGCTTGGCATGGTG [A/G] TGCACACCTGTAATCCTAGCTACTC||Arg||350
  
−
|-
  
−
|rs1967333||aaaaaaaaattagccaggtgtggtgg [C/T] gtgcacctgtggtcccagctattca||Tyr||354
  
−
|-
  
−
|rs2241707||ccaggaaggctgggcgtggtggctca [C/T] gcctgtaatcccagcactttgggag||Tyr||370
  
−
|-
  
−
|rs12982607||CCTGTAATCCCAGCACTTCGGGAGGC [C/T] GAGGCGGGAGGATTGCTTGAGCCCA||Tyr||384
  
−
|-
  
−
|rs57372161||GTAATCCCAGCACTTCGGGAGGCTGA [G/T] GCGGGAGGATTGCTTGAGCCCAGGA||Lys||387
  
−
|-
  
−
|rs3061207||TCTGATGTAAtttttttttttttttt [-/TTTT] tttgagacagggtctcactttgtcc||Asn||388
  
−
|-
  
−
|rs10424533||tgttttgatttttttttttttttgta [A/G] aagcgaggcctcaccatgttgctca||Arg||390
  
−
|-
  
−
|rs2288871||CATGTGTTCCCAGGCCTGGCTTTCCC [A/G] TTGCTGTGGGGGAAACTGATGAATG||Arg||394
  
−
|-
  
−
|rs10418291||CTCATTCCCTCTGTCTGTAGATAttt [C/T] ttttttttttttttttttacttttg||Tyr||397
  
−
|-
  
−
|rs67617298||GCGTGCCACCACGCCTGGCTAATTTT [-/T] GTATTTTTAGTAGAGATGGGGTTTC||Asn||401
  
−
|-
  
−
|rs35668703||GAGCAAGACTCCATCTCAAAAAAAAA [-/A] AATTAGCCAGGCGTGGTGGTGCGTG||Asn||401
  
−
|-
  
−
|rs11300069||AAGTGAGATCCTGTCTCAAAAAAAAA [-/A] AAAAGGAAATTGAAGTCAAAGAGGG||Asn||401
  
−
|-
  
−
|rs72026304||CGTTTAAGCCATTGTGCCCAGCCCAC [-/TTTTTTTTTTTTTTTTTTTTTTTT] TTTTTTTTTGGTCTGAGACGGGGTT||Asn||401
  
−
|-
  
−
|rs66703155||TTGGGGCACAGCTAGATCCAGGGGGT [-/C] CTTCCAGGCAGGAAGTAGAGGGAAG||Asn||401
  
−
|-
  
−
|rs72108665||CAAGCCAGACTCTGTCTCAAAAAAAA [-/AAA] AAAAAAAAAAAAAAGGTAACTGCTG||Asn||401
  
−
|-
  
−
|rs67015245||GATGTAATTTTTTTTTTTTTTTTTTT [-/TTTT] GAGACAGGGTCTCACTTTGTCCCCC||Asn||401
  
−
|-
  
−
|rs72119198||GATATTTCTTTTTTTTTTTTTTTTTT [(LARGEDELETION)/-] TTTTTTTTTTTTTTTTTTTTTTTTT||Asn||401
  
−
|-
  
−
|rs16980932||ATTGGAGAAAATTTTGGGTAGATAGA [-/T] TTTTTTTTCTCCAAATCTCTGTGCA||Asn||401
  
−
|-
  
−
|rs66596854||CAGGCGTAAGCCACTGCCCAGCATCC [-/AGCATCC] CCACCTTTTTTTTTTTTTTTTTAAA||Asn||401
  
−
|-
  
−
|rs67557049||GGAGACCTTTTCACTTTTTTTTTTTT [-/T] TTTTTTTTTGAGCAGTTCATATCCT||Asn||401
  
−
|-
  
−
|rs66801847||CATAATGATGATTTTTTTTTTTTTTC [-/T] GAGACAGGGTCTTGCTTTGTAGCCC||Asn||401
  
−
|-
  
−
|rs10709558||ccgctttccacttgtgtagccttggc [-/C] aacggactgcacttctctggatcta||Asn||401
  
−
|-
  
−
|rs892044||GTAGGCTAGATTCGGGGCTGCCTCTT [C/T] ATGTGCCTGACGCAAACTCCAGCAC||Tyr||401
  
−
|-
  
−
|rs3214612||CCTCAAGACACCACACAGCTCCCCCC [-/C] TCACATCCTCTGGTCCATACTTCAG||Asn||401
  
−
|-
  
−
|rs3214613||TAGATCCAGAGAAGTGCAGTCCGTTG [-/G] CCAAGGCTACACAAGTGGAAAGCGG||Asn||401
  
−
|-
  
−
|rs72405314||TCCTGACCCCCACTCCAGGGAGCCCA [-/C] CACTGACCTGGGGCCCCTTGCCCCT||Asn||401
  
−
|-
  
−
|rs66828714||GTTATTTGGTTCATAATGATGATTTT [-/T] TTTTTTTTTTCGAGACAGGGTCTTG||Asn||401
  
−
|-
  
−
|rs72095217||AGCCAAAGTGAGATCCTGTCTCAAAA [-/A] AAAAAAAAAGGAAATTGAAGTCAAA||Asn||401
  
−
|-
  
−
|rs72343230||AGCCCAGTTCTGATGTAATTTTTTTT [-/TTTT] TTTTTTTTTTTGAGACAGGGTCTCA||Asn||401
  
−
|-
  
−
|rs34447852||TGTGTGAGAGACAGCAAGTGAATGGG [-/A] AAAAAAAAAGTGCAGGAGCCTGGCC||Asn||401
  
−
|-
  
−
|rs67530835||TAGGATTACAGGCGTAAGCCACTGCC [-/AT/CCAGCAT] CAGCATCCCCACCTTTTTTTTTTTT||Asn||401
  
−
|-
  
−
|rs11437195||TGGTGGGTGGGGGTGCAGATGGTGCA [-/G] GGTTGGGTGGGGCCTCAAGGCCTTT||Asn||401
  
−
|-
  
−
|rs67031414||GCAAGACTCCATCTCAAAAAAAAAAA [-/A] TTAGCCAGGCGTGGTGGTGCGTGCC||Asn||401
  
−
|-
  
−
|rs66865572||CAAGACTCCATCTCAAAAAAAAAAAT [-/A] TAGCCAGGCGTGGTGGTGCGTGCCT||Asn||401
  
−
|-
  
−
|rs5828106||taattttttgtatttttagtagaggc [-/G] gggtttcaccatgttagccaggatg||Asn||401
  
−
|-
  
−
|rs11307062||CTCTAGCCAAAGTGAGATCCTGTCTC [-/A] AAAAAAAAAAAAAGGAAATTGAAGT||Asn||401
  
−
|-
  
−
|rs5828107||agagcaagactccatctcaaaaaaaa [-/A] aaattagccaggcgtggtggtgcgt||Asn||401
  
−
|-
  
−
|rs71960526||TGTCTGTAGATATTTCTTTTTTTTTT [-/TTTTT] TTTTTTTTACTTTTGAGATGGAGTT||Asn||401
  
−
|-
  
−
|rs11313402||TGCCTTTGGGCTGGAGACCTTTTCAC [-/T] TTTTTTTTTTTTTTTTTTTTTGAGC||Asn||401
  
−
|-
  
−
|rs892043||TCACGTAGGCTAGATTCGGGGCTGCC [C/T] CTTTATGTGCCTGACGCAAACTCCA||Tyr||401
  
−
|-
  
−
|rs10565264||tcaccctctaagggattttttttttt [-/TTT] tttttttttgagatggagtctcact||Asn||401
  
−
|-
  
−
|rs284651||GAGGGTAGGGGTGGCAGGAAGGTGGC [A/G] GGATTGGGGAGGGAAGGAGATGATC||Arg||401
  
−
|-
  
−
|rs66838098||TCTCAAAAAAAAAAAAAAAAAAAAAA [-/AAA] GGTAACTGCTGTGTGTAATGTGATC||Asn||401
  
−
|-
  
−
|rs33988947||AATTTTTTGTATTTTTAGTAGAGGCG [-/G] GGTTTCACCATGTTAGCCAGGATGG||Asn||401
  
−
|-
  
−
|rs67118441||GCCCAGTTCTGATGTAATTTTTTTTT [-/TTTT] TTTTTTTTTTGAGACAGGGTCTCAC||Asn||401
  
−
|-
  
−
|rs67456786||CCCTCCTGACCCCCACTCCAGGGAGC [-/C] CCACACTGACCTGGGGCCCCTTGCC||Asn||401
  
−
|-
  
−
|rs72316851||ATATTTCTTTTTTTTTTTTTTTTTTA [-/TTTTTTTTTTTTTTTTTTTT] CTTTTGAGATGGAGTTTTGCTCTTG||Asn||401
  
−
|-
  
−
|rs67742179||CCAAAGTGCTGGGGTTACAGGCGTGA [-/G] CCACCATGTGTGGCCGGGCAGGTGA||Asn||401
  
−
|-
  
−
|rs66601221||TGCCCTAATCTTTTTTTTTTTTTTTT [-/TTTT/TTTTTT] GACTTGCCCTAATCTTAGGGATATT||Asn||401
  
−
|-
  
−
|rs67955137||GGTGGGTGGGGGTGCAGATGGTGCAG [-/G] GTTGGGTGGGGCCTCAAGGCCTTTG||Asn||401
  
−
|-
  
−
|rs71922487||CCCAGTTCTGATGTAATTTTTTTTTT [-/TTTT] TTTTTTTTTGAGACAGGGTCTCACT||Asn||401
  
−
|-
  
−
|rs10712417||AAATTTTGGGTAGATAGATTTTTTTT [-/AAACA/T] CTCCAAATCTCTGTGCATTCTATCT||Asn||401
  
−
|-
  
−
|rs72299612||GGGCAACAAGAGCAAAACTCCGTCTC [-/A] AAAAAAAAAAAAGAAAGAAAATTAG||Asn||401
  
−
|-
  
−
|rs45500792||AGAGGCAGCCCCGAATCTAGCCTACG [G/T] GAGTGCCGGACCGCTGAGTGGTTGT||Lys||401
  
−
|-
  
−
|rs72449807||GGTGCGTGCCACCACGCCTGGCTAAT [-/T] TTTTGTATTTTTAGTAGAGATGGGG||Asn||401
  
−
|-
  
−
|rs72428261||TATGGACCAGAGGATGTGAGGGGGGA [-/G] GCTGTGTGGTGTCTTGAGGCAGGTG||Asn||401
  
−
|-
  
−
|rs71866052||AGCCAGACTCTGTCTCAAAAAAAAAA [-/AA] AAAAAAAAAAAAAGGTAACTGCTGT||Asn||401
  
−
|-
  
−
|rs66517057||CTGAAGTATGGACCAGAGGATGTGAG [-/G] GGGGGAGCTGTGTGGTGTCTTGAGG||Asn||401
  
−
|-
  
−
|rs58057017||TTTTTTGACTTGCCCTAATCTTAGGG [-/A] TATTTACTTGTGTGGAGAGATGCAG||Asn||401
  
−
|-
  
−
|rs11307304||TTCACTTTTTTTTTTTTTTTTTTTTT [-/T] GAGCAGTTCATATCCTCCACAGCTG||Asn||401
  
−
|-
  
−
|rs66530612||ATATCACCCTCTAAGGGATTTTTTTT [-/TT/TTT] TTTTTTTTTTTTGAGATGGAGTCTC||Asn||401
  
−
|-
  
−
|rs11670757||CTGGCTATGCTGGGTACTCAGAAGGG [G/T] GAAGCACTGTGCTGCAAGAGGCCGG||Lys||404
  
−
|-
  
−
|rs11670725||CCTGCTGTGAAGGCAACCTGGACGCT [C/G] TCTCTGCCTTCCTGGGATTGTGGTG||Ser||404
  
−
|-
  
−
|rs28374474||GATATTTCTTTTTTTTTTTTTTTTTT [A/T] CTTTTGAGATGGAGTTTTGCTCTTG||Trp||416
  
−
|-
  
−
|rs59885702||GATATTTCTTTTTTTTTTTTTTTTTT [-/TTTTT/TTTTTTTTTTTTTTTTTTT/TTTTTTTTTTTTTTTTTTTT] ACTTTTGAGATGGAGTTTTGCTCTT||Asn||416
  
−
|-
  
−
|rs10418669||ttttttttttttttttttacttttga [A/G] atggagttttgctcttgttgcccag||Arg||424
  
−
|-
  
−
|rs57096317||GGGTGGCTGGGGTCCGTCACTGGAGT [A/G] ACACTGAAGTATGGACCAGAGGATG||Arg||427
  
−
|-
  
−
|rs11437196||GTATGGACCAGAGGATGTGAGGGGGG [-/G] AGCTGTGTGGTGTCTTGAGGCAGGT||Asn||462
  
−
|-
  
−
|rs12709849||gttgcccaggctggagtgcaatggca [C/T] gatcttggctcaccgcctccctggt||Tyr||467
  
−
|-
  
−
|rs11883104||TGAGCCAAGATTGCGCCATTGCATTC [C/T] GGGCAACAAGAGCAAAACTCCGTCT||Tyr||476
  
−
|-
  
−
|rs10409251||cacccccataattcaattacctccca [C/G] tggctccttcccacaacatgtggga||Ser||483
  
−
|-
  
−
|rs59076804||GAGATCCTGTCTCAAAAAAAAAAAAA [-/A] GGAAATTGAAGTCAAAGAGGGAAGT||Asn||488
  
−
|-
  
−
|rs4803466||TCGTTCCCTTTGTTATCTGGGTGCCA [C/T] CTCCTCTCCCTCCTCATCTTTCCCC||Thr||500
  
−
|-
  
−
|rs4803467||aggttcaggtgattctcctgcctcag [A/C] ctccggagtagctggaattaaaggc||Met||501
  
−
|-
  
−
|rs4803469||GAGGTTCAAGACTGCAGTGAGCTATG [A/C] TTCCACCACCGAACTCCAGTTTGGG||Met||501
  
−
|-
  
−
|rs10420556||aagtgattctcctgcctcagcctccc [A/G] aatagctgggactactggcgtgcgc||Arg||501
  
−
|-
  
−
|rs4803468||AAGCCAGGTAAGAACCTGAGTCAACA [A/G] AGGTGAGGTCATGGGCCCAGGCCAC||Arg||501
  
−
|-
  
−
|rs4803462||CCTTGAATGTGCCTCCTCCCACCTGG [A/T] GGCCTTTGTAGGTATGAGGTCCTTC||Trp||501
  
−
|-
  
−
|rs10419188||cccccaagtagctgggattacaggcg [C/T] ccaccaccacactcggctaattttt||Tyr||501
  
−
|-
  
−
|rs4802117||CAGGTTCAAGCGATTCTCCTGCCTCA [A/G] CCTCCTGAGTAGCTGGGACTATAGG||Arg||501
  
−
|-
  
−
|rs4802118||ttttagtagagatggggtttcaccac [A/G] ttggtcaggctggtttcaaactcct||Arg||501
  
−
|-
  
−
|rs10405951||tggccTTAAATTTTATTTATATAttt [A/T] tttttgtagagacgaggtctcacta||Trp||501
  
−
|-
  
−
|rs12973059||ggcgtgtgcctgtagtcccagctact [C/T] gggaggctgaggcagaagaatcgct||Tyr||501
  
−
|-
  
−
|rs60637881||GTGGGTGGGGGTGCAGATGGTGCAGG [-/G] TTGGGTGGGGCCTCAAGGCCTTTGC||Asn||501
  
−
|-
  
−
|rs2241708||GCCCCAGCAGATACTCCAGAGAGGGA [A/G] ACTGAGGCACAGGGGAGACGGCATG||Arg||501
  
−
|-
  
−
|rs2241709||GAGGGAGACTGAGGCACAGGGGAGAC [A/G] GCATGCTGATGGAAGAGGACCGAAG||Arg||501
  
−
|-
  
−
|rs12980966||tgaccaggctggtcttgaactcctga [C/T] ctaaggtgatctgcccgcctcggcc||Tyr||501
  
−
|-
  
−
|rs11880951||GAAATAGTCAGGGAAAGGTTGAGAGG [C/G] TGCATATTGTAGACAGATTGGATTA||Ser||501
  
−
|-
  
−
|rs10418917||acctggctaattttgtatttttagta [A/G] agatggggtttctccatgttggtca||Arg||501
  
−
|-
  
−
|rs12971746||gctgggcgtaatggcgtgtgcctgta [A/G] tcccagctacttgggaggctgaggc||Arg||501
  
−
|-
  
−
|rs12980789||actctgtcgcccaggctggagtacgg [G/T] ggcgcagtcttggctcattgcaact||Lys||501
  
−
|-
  
−
|rs11880539||TCTTTAGGAAGTGCTCAGCTGCTCAG [A/C] AGCACACTCTGAGACCCAGCCCCAT||Met||501
  
−
|-
  
−
|rs7258973||GACGCCATTCTCCTGCCTCAGCCTCC [C/T] GAGTAGCTGGGACTACAGGCGCCCG||Tyr||501
  
−
|-
  
−
|rs61285302||CTGGGATTACAGGCATGCGCCACCAC [A/C] CCTGGCTAATTTTGTATTTTTAGTA||Met||501
  
−
|-
  
−
|rs57114476||AGGGATTTTTTTTTTTTTTTTTTTTT [-/TT] GAGATGGAGTCTCACTGTCACCAGG||Asn||501
  
−
|-
  
−
|rs10417311||GGGgctgggcgtggtggctcatacct [A/G] tatgagcactttgggaggaggattg||Arg||501
  
−
|-
  
−
|rs10415116||CTGGTTTGAGGATTAGGTGGCAAACC [A/G] TGGTGGAGTGTACATGCCCTGCCCA||Arg||501
  
−
|-
  
−
|rs166925||TATGTTTGTGAGCAGACAAATGCAGT [A/G] GGCATGTGGTTGGGAAATCCAGAGT||Arg||501
  
−
|-
  
−
|rs10422226||CACCATCATTGTTACTTGTTTAGTGT [C/T] TGCCCTCCCTGCTAGGCAgcaagga||Tyr||501
  
−
|-
  
−
|rs59233264||GACAGAGCAGCCCTCTGTCTCAAAAT [A/G] AGATAGCCACAAGTGGTTGGTGGCT||Arg||501
  
−
|-
  
−
|rs10411013||gttggccaggctggtctcgaactcct [G/T] gcctcaactgatccacccacctcag||Lys||501
  
−
|-
  
−
|rs10554793||ATGGTGCAGGGTTTTTGTTTTGTTTT [-/GTTT] TTTGTTTTTTCGAGGTGGAGTTTTG||Asn||501
  
−
|-
  
−
|rs58959515||TTTGCTCTTGTTCCTGTTTTCAAGAG [C/G] AGGATGCCCGTGTTTTGTGTGTGTG||Ser||501
  
−
|-
  
−
|rs60285872||TGCCCTAATCTTTTTTTTTTTTTTTT [-/TTTT] GACTTGCCCTAATCTTAGGGATATT||Asn||501
  
−
|-
  
−
|rs12327735||ggtgatctgcctgcctcggactccca [A/G] agtgctgggattacaggcgtgagcc||Arg||501
  
−
|-
  
−
|rs11666243||CTTACCTGTCAACTTGACACTTTTTT [G/T] TTTTTTTAGGCTAGTCAGGTGAAGC||Lys||501
  
−
|-
  
−
|rs12327737||gctgggattacaggcgtgagccacca [C/T] gcccagccttcctggctaatttaaa||Tyr||501
  
−
|-
  
−
|rs10416743||CTGGGCTTTCTCAGCCATTCCTCATC [C/T] GACCTGAGGAGGTGTGATGTCCTTG||Tyr||501
  
−
|-
  
−
|rs12979462||tttttgaggtggagtctcactctgtc [G/T] cccaggctggagtacggtggcgcag||Lys||501
  
−
|-
  
−
|rs58436091||TTTTGCAGAGAGCCACACAATGAGCT [A/G] AGAAATTAGAACCCAGGGCAGTTGA||Arg||501
  
−
|-
  
−
|rs59989753||GTCTCCCAAAGTGCTGGGATTACAGG [C/T] GTGAGCCACCACGCCCAGCCTAATT||Tyr||501
  
−
|-
  
−
|rs10417997||gaactcctgacctcaggtgagccaca [A/G] gtcttggcctcccaaagtgtgggga||Arg||501
  
−
|-
  
−
|rs10422783||gctgggattacaggcataagccactg [C/T] gcctggctgcgcctggctaattttt||Tyr||501
  
−
|-
  
−
|rs11083619||TGAACTCCAGAGCCAGGGAACTTAAC [A/C] GCCCATTCATGCATTCACTCAGGAA||Met||501
  
−
|-
  
−
|rs11083618||ttgtatttttagtagagacagggttt [C/T] gccatgttggccaggctggtctcga||Tyr||501
  
−
|-
  
−
|rs8102338||tgaactcctgggctcaagcgatcctc [C/T] ctccttggcctcccaaagtgctggt||Tyr||574
  
−
|-
  
−
|rs4803461||cGGGCAGGTGATTTTTCTTGTCTTTC [A/G] CCTCTTTCCACTTCAGTCCCCCTGG||Arg||588
  
−
|-
  
−
|rs284647||gagaaggaggctgcagtgagctgcga [C/T] agcaccactgcactctagcctgggc||Tyr||654
  
−
|-
  
−
|rs1967334||actccagcctgggcaacagagcgaga [C/T] tccatctcaaaaaaaaaaaaggaga||Tyr||770
  
−
|-
  
−
|rs284657||ctatctcttaaaaaaaaaaaaaaGCT [C/G] GTTTGAGGATTAGGTGGCAAACCGT||Ser||821
  
−
|-
  
−
|rs3816037||TGGGGCTCTGGGCAGCCCTGGCATAC [A/G] GATGGACATGAGATCACACAGGGCC||Arg||1217
  
 
|}
  
|}
−  
   
 
'''results for the gene search with BCKDHA'''
  
'''results for the gene search with BCKDHA'''

Revision as of 22:38, 16 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).


Reference Sequences: Reference_Sequence_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

rs137852876 || CTTGAGTGCCCCATCATCTTCTTCTG[C/G]CGGAACAATGGCTACGCCATCTCCA || NM_000709.3 || 792 || C || G || 264 || S rs137852875 || TGATGTGTTTGCCGTATACAACGCCA[C/G]AAAGGAGGCCCGACGGCGGGCTGTG || NM_000709.3 || 929 || C || G || 310 || S rs137852874 || CAGCCAGTGAGGGGGACGCCCATGCC[A/G]GCTTCAACTTCGCTGCCACACTTGA || NM_000709.3 || 745 || G || A || 248 || R rs137852873 || TTGAGTGCCCCATCATCTTCTTCTGC[C/T]GGAACAATGGCTACGCCATCTCCAC || NM_000709.3 || 793 || C || T || 264 || Y rs137852872 || GCCCAAACCCAACCCCAACCTACTCT[G/T]CTCAGACGTGTATCAGGAGATGCCC || NM_000709.3 || 1226 || T || G || 409 || K rs137852871 || GTGTCCCCACAGCAGCACGAGGCCCC[A/G]GGTATGGCATCATGTCAATCCGCGT || NM_000709.3 || 868 || G || A || 289 || R rs137852870 || GCCACCTGCAGACCTACGGGGAGCAC[A/T]ACCCACTGGATCACTTCGATAAGTG || NM_000709.3 || 1312 || T || A || 437 || W rs114716391 || CTCACCACCCTCTCATCCCCTGCAGC[G/T]GTGGGGGCGGCGTACGCAGCCAAGC || NM_000709.3 || 648 || G || T || 216 || K rs111855817 || TGCCCTCCTGCTGCTGCGGCAGCCTG[A/G]GGCTCGGGGACTGGCTAGATCTGTG || NM_000709.3 || 86 || G || A || 29 || R rs80014754 || CTCTGCTCTCTTCCCCAGCACCCCCC[A/C]AGGCAGCAGCAGCAGTTTTCATCTC || NM_000709.3 || 117 || C || A || 39 || M rs62637712 || TTTTCTCTCTCTCTTTCTTTCTGTAC[C/T]TCTCTTTCCTTTTTCTTTTTTTTTC || NM_000709.3 || 114 || C || G || 38 || B rs61737367 || TCCACGCCCACCTCTGAGCAGTATCG[C/T]GGCGATGGCATTGGTATGGGCTCTG || NM_000709.3 || 840 || C || T || 280 || Y rs61736656 || ATTACTGGGATAAACAGGACCACCCC[A/G]TCTCCCGGCTGCGGCACTATCTGCT || NM_000709.3 || 1081 || A || G || 360 || R rs55940366 || GCTGTGGCAGAGAACCAGCCCTTCCT[C/T]ATCGAGGCCATGACCTACAGGTGCC || NM_000709.3 || 975 || C || T || 325 || Y rs34956071 || TAGGTGTGCTGATGTATCGGGACTAC[C/T]CCCTGGAACTATTCATGGCCCAGTG || NM_000709.3 || 508 || C || T || 169 || Y rs34589432 || CCTCTGCTCTCTTCCCCAGCACCCCC[A/C]CAGGCAGCAGCAGCAGTTTTCATCT || NM_000709.3 || 116 || C || A || 39 || M rs34541442 || TAGCGATCGCTGCAGCGAGGGTCTGG[A/C]GGCTAAACCGTGGTTTGAGCCAGGC || NM_000709.3 || 34 || C || A || 11 || M rs34492894 || GTGTATCAGGAGATGCCCGCCCAGCT[C/T]CGCAAGCAGCAGGAGTCTCTGGCCC || NM_000709.3 || 1260 || C || T || 420 || Y rs34442879 || GGGGAGTGCCGCCGCCCTGGACAACA[C/T]GGACCTGGTGTTTGGCCAGTACCGG || NM_000709.3 || 452 || C || T || 151 || Y rs28940288 || ACTTCGGCGAGGGGGCAGCCAGTGAG[A/G]GGGACGCCCATGCCGGCTTCAACTT || NM_000709.3 || 730 || G || A || 243 || R rs17173144 || TTGTTAGCCAAGATGGCGGTAGCGAT[C/T]GCTGCAGCGAGGGTCTGGCGGCTAA || NM_000709.3 || 15 || C || T || 5 || Y rs11549938 || TCTCTGGAATCCCCATCTACCGCGTC[A/C]TGGACCGGCAAGGCCAGATCATCAA || NM_000709.3 || 244 || A || C || 81 || M rs11549937 || ATCAACCCCAGCGAGGACCCCCACCT[C/G]CCGAAGGAGAAGGTGCTGAAGCTCT || NM_000709.3 || 291 || G || C || 97 || S rs10404506 || ATCTCCTCTCCACTGGCCACGCAGAT[C/T]CCTCAGGGTGAGGATGCATGCCCTG || NM_000709.3 || 639 || C || T || 213 || Y rs284652 || CACCTGTAGGTCATGGCCTCGATGAG[A/G]AAGGGCTGGTTCTCTGCCACAGCCC || NM_000709.3 || 972 || C || T || 324 || R rs4674 || ATCTCCTGATACACGTCTGAGAAGAG[C/T]AGGTTGGGGTTGGGTTTGGGCTTCC || NM_000709.3 || 1221 || A || G || 407 || Y
RefSeq ID SNP Reference Sequence Nucleotide Position Nt old Nt new Codon pos

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=5892"