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Items: 1 to 20 of 217

1.

rs1484095438 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C,G [Show Flanks]
    Chromosome:
    14:102232589 (GRCh38)
    14:102698926 (GRCh37)
    Canonical SPDI:
    NC_000014.9:102232588:T:C,NC_000014.9:102232588:T:G
    Gene:
    MOK (Varview)
    Functional Consequence:
    3_prime_UTR_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000014.9:g.102232589T>C, NC_000014.9:g.102232589T>G, NC_000014.8:g.102698926T>C, NC_000014.8:g.102698926T>G, XM_006720226.4:c.812A>G, XM_006720226.4:c.812A>C, XM_006720226.3:c.812A>G, XM_006720226.3:c.812A>C, XM_006720226.2:c.812A>G, XM_006720226.2:c.812A>C, XM_006720226.1:c.812A>G, XM_006720226.1:c.812A>C, NR_073540.3:n.386A>G, NR_073540.3:n.386A>C, NR_073540.2:n.392A>G, NR_073540.2:n.392A>C, NR_073540.1:n.392A>G, NR_073540.1:n.392A>C, NM_014226.3:c.812A>G, NM_014226.3:c.812A>C, NM_014226.2:c.812A>G, NM_014226.2:c.812A>C, XM_017021557.3:c.722A>G, XM_017021557.3:c.722A>C, XM_017021557.2:c.722A>G, XM_017021557.2:c.722A>C, XM_017021557.1:c.722A>G, XM_017021557.1:c.722A>C, NR_148553.2:n.915A>G, NR_148553.2:n.915A>C, NR_148553.1:n.951A>G, NR_148553.1:n.951A>C, NR_148555.2:n.844A>G, NR_148555.2:n.844A>C, NR_148555.1:n.880A>G, NR_148555.1:n.880A>C, NM_001353828.2:c.620A>G, NM_001353828.2:c.620A>C, NM_001353828.1:c.620A>G, NM_001353828.1:c.620A>C, NM_001353831.2:c.266A>G, NM_001353831.2:c.266A>C, NM_001353831.1:c.266A>G, NM_001353831.1:c.266A>C, NM_001330234.2:c.809A>G, NM_001330234.2:c.809A>C, NM_001330234.1:c.809A>G, NM_001330234.1:c.809A>C, NM_001272011.2:c.722A>G, NM_001272011.2:c.722A>C, NM_001272011.1:c.722A>G, NM_001272011.1:c.722A>C, NM_001353827.2:c.719A>G, NM_001353827.2:c.719A>C, NM_001353827.1:c.719A>G, NM_001353827.1:c.719A>C, XM_017021558.2:c.719A>G, XM_017021558.2:c.719A>C, XM_017021558.1:c.719A>G, XM_017021558.1:c.719A>C, NM_001353829.2:c.497A>G, NM_001353829.2:c.497A>C, NM_001353829.1:c.497A>G, NM_001353829.1:c.497A>C, NM_001353830.2:c.494A>G, NM_001353830.2:c.494A>C, NM_001353830.1:c.494A>G, NM_001353830.1:c.494A>C, NR_148552.2:n.918A>G, NR_148552.2:n.918A>C, NR_148552.1:n.954A>G, NR_148552.1:n.954A>C, NR_073541.2:n.433A>G, NR_073541.2:n.433A>C, NR_073541.1:n.439A>G, NR_073541.1:n.439A>C, NM_001353832.2:c.110A>G, NM_001353832.2:c.110A>C, NM_001353832.1:c.110A>G, NM_001353832.1:c.110A>C, NR_073542.2:n.386A>G, NR_073542.2:n.386A>C, NR_073542.1:n.392A>G, NR_073542.1:n.392A>C, NR_073543.2:n.349A>G, NR_073543.2:n.349A>C, NR_073543.1:n.355A>G, NR_073543.1:n.355A>C, XR_007064039.1:n.1008A>G, XR_007064039.1:n.1008A>C, XR_007064040.1:n.1008A>G, XR_007064040.1:n.1008A>C, XR_007064041.1:n.1005A>G, XR_007064041.1:n.1005A>C, XM_047431650.1:c.110A>G, XM_047431650.1:c.110A>C, XM_047431645.1:c.359A>G, XM_047431645.1:c.359A>C, XM_047431643.1:c.812A>G, XM_047431643.1:c.812A>C, XM_047431644.1:c.809A>G, XM_047431644.1:c.809A>C, XM_047431646.1:c.722A>G, XM_047431646.1:c.722A>C, XM_047431647.1:c.719A>G, XM_047431647.1:c.719A>C, XM_047431648.1:c.*61A>G, XM_047431648.1:c.*61A>C, XM_047431649.1:c.*61A>G, XM_047431649.1:c.*61A>C, XP_006720289.1:p.Asp271Gly, XP_006720289.1:p.Asp271Ala, NP_055041.1:p.Asp271Gly, NP_055041.1:p.Asp271Ala, XP_016877046.1:p.Asp241Gly, XP_016877046.1:p.Asp241Ala, NP_001340757.1:p.Asp207Gly, NP_001340757.1:p.Asp207Ala, NP_001340760.1:p.Asp89Gly, NP_001340760.1:p.Asp89Ala, NP_001317163.1:p.Asp270Gly, NP_001317163.1:p.Asp270Ala, NP_001258940.1:p.Asp241Gly, NP_001258940.1:p.Asp241Ala, NP_001340756.1:p.Asp240Gly, NP_001340756.1:p.Asp240Ala, XP_016877047.1:p.Asp240Gly, XP_016877047.1:p.Asp240Ala, NP_001340758.1:p.Asp166Gly, NP_001340758.1:p.Asp166Ala, NP_001340759.1:p.Asp165Gly, NP_001340759.1:p.Asp165Ala, NP_001340761.1:p.Asp37Gly, NP_001340761.1:p.Asp37Ala, XP_047287606.1:p.Asp37Gly, XP_047287606.1:p.Asp37Ala, XP_047287601.1:p.Asp120Gly, XP_047287601.1:p.Asp120Ala, XP_047287599.1:p.Asp271Gly, XP_047287599.1:p.Asp271Ala, XP_047287600.1:p.Asp270Gly, XP_047287600.1:p.Asp270Ala, XP_047287602.1:p.Asp241Gly, XP_047287602.1:p.Asp241Ala, XP_047287603.1:p.Asp240Gly, XP_047287603.1:p.Asp240Ala

    2.

    rs1468225627 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      14:102229617 (GRCh38)
      14:102695954 (GRCh37)
      Canonical SPDI:
      NC_000014.9:102229616:C:T
      Gene:
      MOK (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000014.9:g.102229617C>T, NC_000014.8:g.102695954C>T, XM_006720226.4:c.*28G>A, XM_006720226.3:c.*28G>A, XM_006720226.2:c.*28G>A, XM_006720226.1:c.*28G>A, NM_014226.3:c.1022G>A, NM_014226.2:c.1022G>A, XM_017021557.3:c.*28G>A, XM_017021557.2:c.*28G>A, XM_017021557.1:c.*28G>A, NM_001353828.2:c.830G>A, NM_001353828.1:c.830G>A, NM_001353831.2:c.476G>A, NM_001353831.1:c.476G>A, NM_001330234.2:c.1019G>A, NM_001330234.1:c.1019G>A, NM_001272011.2:c.932G>A, NM_001272011.1:c.932G>A, NM_001353827.2:c.929G>A, NM_001353827.1:c.929G>A, XM_017021558.2:c.*28G>A, XM_017021558.1:c.*28G>A, NM_001353829.2:c.707G>A, NM_001353829.1:c.707G>A, NM_001353830.2:c.704G>A, NM_001353830.1:c.704G>A, NR_148552.2:n.1013G>A, NR_148552.1:n.1049G>A, NR_073541.2:n.528G>A, NR_073541.1:n.534G>A, NM_001353832.2:c.320G>A, NM_001353832.1:c.320G>A, NR_073542.2:n.481G>A, NR_073542.1:n.487G>A, NR_073543.2:n.444G>A, NR_073543.1:n.450G>A, XM_047431650.1:c.320G>A, XM_047431645.1:c.569G>A, XM_047431643.1:c.*28G>A, XM_047431644.1:c.*28G>A, NP_055041.1:p.Arg341Gln, NP_001340757.1:p.Arg277Gln, NP_001340760.1:p.Arg159Gln, NP_001317163.1:p.Arg340Gln, NP_001258940.1:p.Arg311Gln, NP_001340756.1:p.Arg310Gln, NP_001340758.1:p.Arg236Gln, NP_001340759.1:p.Arg235Gln, NP_001340761.1:p.Arg107Gln, XP_047287606.1:p.Arg107Gln, XP_047287601.1:p.Arg190Gln

      3.

      rs1465688640 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C,G [Show Flanks]
        Chromosome:
        14:102231801 (GRCh38)
        14:102698138 (GRCh37)
        Canonical SPDI:
        NC_000014.9:102231800:A:C,NC_000014.9:102231800:A:G
        Gene:
        MOK (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        C=0.001638/3 (Korea1K)
        HGVS:
        NC_000014.9:g.102231801A>C, NC_000014.9:g.102231801A>G, NC_000014.8:g.102698138A>C, NC_000014.8:g.102698138A>G, NM_014226.3:c.887T>G, NM_014226.3:c.887T>C, NM_014226.2:c.887T>G, NM_014226.2:c.887T>C, NM_001353828.2:c.695T>G, NM_001353828.2:c.695T>C, NM_001353828.1:c.695T>G, NM_001353828.1:c.695T>C, NM_001353831.2:c.341T>G, NM_001353831.2:c.341T>C, NM_001353831.1:c.341T>G, NM_001353831.1:c.341T>C, NM_001330234.2:c.884T>G, NM_001330234.2:c.884T>C, NM_001330234.1:c.884T>G, NM_001330234.1:c.884T>C, NM_001272011.2:c.797T>G, NM_001272011.2:c.797T>C, NM_001272011.1:c.797T>G, NM_001272011.1:c.797T>C, NM_001353827.2:c.794T>G, NM_001353827.2:c.794T>C, NM_001353827.1:c.794T>G, NM_001353827.1:c.794T>C, NM_001353829.2:c.572T>G, NM_001353829.2:c.572T>C, NM_001353829.1:c.572T>G, NM_001353829.1:c.572T>C, NM_001353830.2:c.569T>G, NM_001353830.2:c.569T>C, NM_001353830.1:c.569T>G, NM_001353830.1:c.569T>C, NM_001353832.2:c.185T>G, NM_001353832.2:c.185T>C, NM_001353832.1:c.185T>G, NM_001353832.1:c.185T>C, XR_007064039.1:n.1083T>G, XR_007064039.1:n.1083T>C, XM_047431650.1:c.185T>G, XM_047431650.1:c.185T>C, XM_047431645.1:c.434T>G, XM_047431645.1:c.434T>C, XM_047431643.1:c.887T>G, XM_047431643.1:c.887T>C, NP_055041.1:p.Leu296Arg, NP_055041.1:p.Leu296Pro, NP_001340757.1:p.Leu232Arg, NP_001340757.1:p.Leu232Pro, NP_001340760.1:p.Leu114Arg, NP_001340760.1:p.Leu114Pro, NP_001317163.1:p.Leu295Arg, NP_001317163.1:p.Leu295Pro, NP_001258940.1:p.Leu266Arg, NP_001258940.1:p.Leu266Pro, NP_001340756.1:p.Leu265Arg, NP_001340756.1:p.Leu265Pro, NP_001340758.1:p.Leu191Arg, NP_001340758.1:p.Leu191Pro, NP_001340759.1:p.Leu190Arg, NP_001340759.1:p.Leu190Pro, NP_001340761.1:p.Leu62Arg, NP_001340761.1:p.Leu62Pro, XP_047287606.1:p.Leu62Arg, XP_047287606.1:p.Leu62Pro, XP_047287601.1:p.Leu145Arg, XP_047287601.1:p.Leu145Pro, XP_047287599.1:p.Leu296Arg, XP_047287599.1:p.Leu296Pro

        4.

        rs1455568364 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->T [Show Flanks]
          Chromosome:
          14:102231814 (GRCh38)
          14:102698152 (GRCh37)
          Canonical SPDI:
          NC_000014.9:102231814:T:TT
          Gene:
          MOK (Varview)
          Functional Consequence:
          coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TT=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          T=0.000021/3 (GnomAD)
          T=0.00003/8 (TOPMED)
          HGVS:
          NC_000014.9:g.102231815dup, NC_000014.8:g.102698152dup, NM_014226.3:c.873dup, NM_014226.2:c.873dup, NM_001353828.2:c.681dup, NM_001353828.1:c.681dup, NM_001353831.2:c.327dup, NM_001353831.1:c.327dup, NM_001330234.2:c.870dup, NM_001330234.1:c.870dup, NM_001272011.2:c.783dup, NM_001272011.1:c.783dup, NM_001353827.2:c.780dup, NM_001353827.1:c.780dup, NM_001353829.2:c.558dup, NM_001353829.1:c.558dup, NM_001353830.2:c.555dup, NM_001353830.1:c.555dup, NM_001353832.2:c.171dup, NM_001353832.1:c.171dup, XR_007064039.1:n.1069dup, XM_047431650.1:c.171dup, XM_047431645.1:c.420dup, XM_047431643.1:c.873dup, NP_055041.1:p.Glu292fs, NP_001340757.1:p.Glu228fs, NP_001340760.1:p.Glu110fs, NP_001317163.1:p.Glu291fs, NP_001258940.1:p.Glu262fs, NP_001340756.1:p.Glu261fs, NP_001340758.1:p.Glu187fs, NP_001340759.1:p.Glu186fs, NP_001340761.1:p.Glu58fs, XP_047287606.1:p.Glu58fs, XP_047287601.1:p.Glu141fs, XP_047287599.1:p.Glu292fs

          5.

          rs1450413653 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            TT>- [Show Flanks]
            Chromosome:
            14:102229623 (GRCh38)
            14:102695960 (GRCh37)
            Canonical SPDI:
            NC_000014.9:102229622:TT:
            Gene:
            MOK (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant,frameshift_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0.000051/1 (ALFA)
            -=0.000012/3 (GnomAD_exomes)
            -=0.000014/2 (GnomAD)
            -=0.000015/4 (TOPMED)
            HGVS:
            NC_000014.9:g.102229623_102229624del, NC_000014.8:g.102695960_102695961del, XM_006720226.4:c.*21_*22del, XM_006720226.3:c.*21_*22del, XM_006720226.2:c.*21_*22del, XM_006720226.1:c.*21_*22del, NM_014226.3:c.1015_1016del, NM_014226.2:c.1015_1016del, XM_017021557.3:c.*21_*22del, XM_017021557.2:c.*21_*22del, XM_017021557.1:c.*21_*22del, NM_001353828.2:c.823_824del, NM_001353828.1:c.823_824del, NM_001353831.2:c.469_470del, NM_001353831.1:c.469_470del, NM_001330234.2:c.1012_1013del, NM_001330234.1:c.1012_1013del, NM_001272011.2:c.925_926del, NM_001272011.1:c.925_926del, NM_001353827.2:c.922_923del, NM_001353827.1:c.922_923del, XM_017021558.2:c.*21_*22del, XM_017021558.1:c.*21_*22del, NM_001353829.2:c.700_701del, NM_001353829.1:c.700_701del, NM_001353830.2:c.697_698del, NM_001353830.1:c.697_698del, NR_148552.2:n.1006_1007del, NR_148552.1:n.1042_1043del, NR_073541.2:n.521_522del, NR_073541.1:n.527_528del, NM_001353832.2:c.313_314del, NM_001353832.1:c.313_314del, NR_073542.2:n.474_475del, NR_073542.1:n.480_481del, NR_073543.2:n.437_438del, NR_073543.1:n.443_444del, XM_047431650.1:c.313_314del, XM_047431645.1:c.562_563del, XM_047431643.1:c.*21_*22del, XM_047431644.1:c.*21_*22del, NP_055041.1:p.Lys339fs, NP_001340757.1:p.Lys275fs, NP_001340760.1:p.Lys157fs, NP_001317163.1:p.Lys338fs, NP_001258940.1:p.Lys309fs, NP_001340756.1:p.Lys308fs, NP_001340758.1:p.Lys234fs, NP_001340759.1:p.Lys233fs, NP_001340761.1:p.Lys105fs, XP_047287606.1:p.Lys105fs, XP_047287601.1:p.Lys188fs

            6.

            rs1450154085 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C,T [Show Flanks]
              Chromosome:
              14:102229544 (GRCh38)
              14:102695881 (GRCh37)
              Canonical SPDI:
              NC_000014.9:102229543:G:A,NC_000014.9:102229543:G:C,NC_000014.9:102229543:G:T
              Gene:
              MOK (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant,synonymous_variant,intron_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              NC_000014.9:g.102229544G>A, NC_000014.9:g.102229544G>C, NC_000014.9:g.102229544G>T, NC_000014.8:g.102695881G>A, NC_000014.8:g.102695881G>C, NC_000014.8:g.102695881G>T, XM_006720226.4:c.*101C>T, XM_006720226.4:c.*101C>G, XM_006720226.4:c.*101C>A, XM_006720226.3:c.*101C>T, XM_006720226.3:c.*101C>G, XM_006720226.3:c.*101C>A, XM_006720226.2:c.*101C>T, XM_006720226.2:c.*101C>G, XM_006720226.2:c.*101C>A, XM_006720226.1:c.*101C>T, XM_006720226.1:c.*101C>G, XM_006720226.1:c.*101C>A, NM_014226.3:c.1095C>T, NM_014226.3:c.1095C>G, NM_014226.3:c.1095C>A, NM_014226.2:c.1095C>T, NM_014226.2:c.1095C>G, NM_014226.2:c.1095C>A, XM_017021557.3:c.*101C>T, XM_017021557.3:c.*101C>G, XM_017021557.3:c.*101C>A, XM_017021557.2:c.*101C>T, XM_017021557.2:c.*101C>G, XM_017021557.2:c.*101C>A, XM_017021557.1:c.*101C>T, XM_017021557.1:c.*101C>G, XM_017021557.1:c.*101C>A, NM_001353828.2:c.903C>T, NM_001353828.2:c.903C>G, NM_001353828.2:c.903C>A, NM_001353828.1:c.903C>T, NM_001353828.1:c.903C>G, NM_001353828.1:c.903C>A, NM_001353831.2:c.549C>T, NM_001353831.2:c.549C>G, NM_001353831.2:c.549C>A, NM_001353831.1:c.549C>T, NM_001353831.1:c.549C>G, NM_001353831.1:c.549C>A, NM_001330234.2:c.1092C>T, NM_001330234.2:c.1092C>G, NM_001330234.2:c.1092C>A, NM_001330234.1:c.1092C>T, NM_001330234.1:c.1092C>G, NM_001330234.1:c.1092C>A, NM_001272011.2:c.1005C>T, NM_001272011.2:c.1005C>G, NM_001272011.2:c.1005C>A, NM_001272011.1:c.1005C>T, NM_001272011.1:c.1005C>G, NM_001272011.1:c.1005C>A, NM_001353827.2:c.1002C>T, NM_001353827.2:c.1002C>G, NM_001353827.2:c.1002C>A, NM_001353827.1:c.1002C>T, NM_001353827.1:c.1002C>G, NM_001353827.1:c.1002C>A, XM_017021558.2:c.*101C>T, XM_017021558.2:c.*101C>G, XM_017021558.2:c.*101C>A, XM_017021558.1:c.*101C>T, XM_017021558.1:c.*101C>G, XM_017021558.1:c.*101C>A, NM_001353829.2:c.780C>T, NM_001353829.2:c.780C>G, NM_001353829.2:c.780C>A, NM_001353829.1:c.780C>T, NM_001353829.1:c.780C>G, NM_001353829.1:c.780C>A, NM_001353830.2:c.777C>T, NM_001353830.2:c.777C>G, NM_001353830.2:c.777C>A, NM_001353830.1:c.777C>T, NM_001353830.1:c.777C>G, NM_001353830.1:c.777C>A, NR_148552.2:n.1086C>T, NR_148552.2:n.1086C>G, NR_148552.2:n.1086C>A, NR_148552.1:n.1122C>T, NR_148552.1:n.1122C>G, NR_148552.1:n.1122C>A, NR_073541.2:n.601C>T, NR_073541.2:n.601C>G, NR_073541.2:n.601C>A, NR_073541.1:n.607C>T, NR_073541.1:n.607C>G, NR_073541.1:n.607C>A, NM_001353832.2:c.393C>T, NM_001353832.2:c.393C>G, NM_001353832.2:c.393C>A, NM_001353832.1:c.393C>T, NM_001353832.1:c.393C>G, NM_001353832.1:c.393C>A, NR_073542.2:n.554C>T, NR_073542.2:n.554C>G, NR_073542.2:n.554C>A, NR_073542.1:n.560C>T, NR_073542.1:n.560C>G, NR_073542.1:n.560C>A, NR_073543.2:n.517C>T, NR_073543.2:n.517C>G, NR_073543.2:n.517C>A, NR_073543.1:n.523C>T, NR_073543.1:n.523C>G, NR_073543.1:n.523C>A, XM_047431650.1:c.393C>T, XM_047431650.1:c.393C>G, XM_047431650.1:c.393C>A, XM_047431645.1:c.642C>T, XM_047431645.1:c.642C>G, XM_047431645.1:c.642C>A, XM_047431643.1:c.*101C>T, XM_047431643.1:c.*101C>G, XM_047431643.1:c.*101C>A, XM_047431644.1:c.*101C>T, XM_047431644.1:c.*101C>G, XM_047431644.1:c.*101C>A, NP_055041.1:p.Ser365Arg, NP_055041.1:p.Ser365Arg, NP_001340757.1:p.Ser301Arg, NP_001340757.1:p.Ser301Arg, NP_001340760.1:p.Ser183Arg, NP_001340760.1:p.Ser183Arg, NP_001317163.1:p.Ser364Arg, NP_001317163.1:p.Ser364Arg, NP_001258940.1:p.Ser335Arg, NP_001258940.1:p.Ser335Arg, NP_001340756.1:p.Ser334Arg, NP_001340756.1:p.Ser334Arg, NP_001340758.1:p.Ser260Arg, NP_001340758.1:p.Ser260Arg, NP_001340759.1:p.Ser259Arg, NP_001340759.1:p.Ser259Arg, NP_001340761.1:p.Ser131Arg, NP_001340761.1:p.Ser131Arg, XP_047287606.1:p.Ser131Arg, XP_047287606.1:p.Ser131Arg, XP_047287601.1:p.Ser214Arg, XP_047287601.1:p.Ser214Arg

              7.

              rs1447611534 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                14:102229322 (GRCh38)
                14:102695659 (GRCh37)
                Canonical SPDI:
                NC_000014.9:102229321:G:A
                Gene:
                MOK (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant,synonymous_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000028/1 (ALFA)
                A=0.000015/4 (TOPMED)
                A=0.000021/3 (GnomAD)
                HGVS:
                NC_000014.9:g.102229322G>A, NC_000014.8:g.102695659G>A, XM_006720226.4:c.*323C>T, XM_006720226.3:c.*323C>T, XM_006720226.2:c.*323C>T, XM_006720226.1:c.*323C>T, NM_014226.3:c.1227C>T, NM_014226.2:c.1227C>T, XM_017021557.3:c.*323C>T, XM_017021557.2:c.*323C>T, XM_017021557.1:c.*323C>T, NM_001353828.2:c.1035C>T, NM_001353828.1:c.1035C>T, NM_001353831.2:c.681C>T, NM_001353831.1:c.681C>T, NM_001330234.2:c.1224C>T, NM_001330234.1:c.1224C>T, NM_001272011.2:c.1137C>T, NM_001272011.1:c.1137C>T, NM_001353827.2:c.1134C>T, NM_001353827.1:c.1134C>T, XM_017021558.2:c.*323C>T, XM_017021558.1:c.*323C>T, NM_001353829.2:c.912C>T, NM_001353829.1:c.912C>T, NM_001353830.2:c.909C>T, NM_001353830.1:c.909C>T, NR_148552.2:n.1218C>T, NR_148552.1:n.1254C>T, NR_073541.2:n.733C>T, NR_073541.1:n.739C>T, NM_001353832.2:c.525C>T, NM_001353832.1:c.525C>T, NR_073542.2:n.686C>T, NR_073542.1:n.692C>T, NR_073543.2:n.649C>T, NR_073543.1:n.655C>T, XM_047431650.1:c.525C>T, XM_047431645.1:c.774C>T, XM_047431643.1:c.*323C>T, XM_047431644.1:c.*323C>T

                8.

                rs1443572368 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  14:102232681 (GRCh38)
                  14:102699018 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:102232680:A:C
                  Gene:
                  MOK (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000014.9:g.102232681A>C, NC_000014.8:g.102699018A>C, XM_006720226.4:c.720T>G, XM_006720226.3:c.720T>G, XM_006720226.2:c.720T>G, XM_006720226.1:c.720T>G, NR_073540.3:n.294T>G, NR_073540.2:n.300T>G, NR_073540.1:n.300T>G, NM_014226.3:c.720T>G, NM_014226.2:c.720T>G, XM_017021557.3:c.630T>G, XM_017021557.2:c.630T>G, XM_017021557.1:c.630T>G, NR_148553.2:n.823T>G, NR_148553.1:n.859T>G, NR_148555.2:n.752T>G, NR_148555.1:n.788T>G, NM_001353828.2:c.528T>G, NM_001353828.1:c.528T>G, NM_001353831.2:c.174T>G, NM_001353831.1:c.174T>G, NM_001330234.2:c.717T>G, NM_001330234.1:c.717T>G, NM_001272011.2:c.630T>G, NM_001272011.1:c.630T>G, NM_001353827.2:c.627T>G, NM_001353827.1:c.627T>G, XM_017021558.2:c.627T>G, XM_017021558.1:c.627T>G, NM_001353829.2:c.405T>G, NM_001353829.1:c.405T>G, NM_001353830.2:c.402T>G, NM_001353830.1:c.402T>G, NR_148552.2:n.826T>G, NR_148552.1:n.862T>G, NR_073541.2:n.341T>G, NR_073541.1:n.347T>G, NM_001353832.2:c.18T>G, NM_001353832.1:c.18T>G, NR_073542.2:n.294T>G, NR_073542.1:n.300T>G, XR_007064039.1:n.916T>G, XR_007064040.1:n.916T>G, XR_007064041.1:n.913T>G, XM_047431650.1:c.18T>G, XM_047431645.1:c.267T>G, XM_047431643.1:c.720T>G, XM_047431644.1:c.717T>G, XM_047431646.1:c.630T>G, XM_047431647.1:c.627T>G

                  9.

                  rs1443198213 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    14:102229517 (GRCh38)
                    14:102695854 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:102229516:A:G
                    Gene:
                    MOK (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant,synonymous_variant,intron_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000014.9:g.102229517A>G, NC_000014.8:g.102695854A>G, XM_006720226.4:c.*128T>C, XM_006720226.3:c.*128T>C, XM_006720226.2:c.*128T>C, XM_006720226.1:c.*128T>C, NM_014226.3:c.1122T>C, NM_014226.2:c.1122T>C, XM_017021557.3:c.*128T>C, XM_017021557.2:c.*128T>C, XM_017021557.1:c.*128T>C, NM_001353828.2:c.930T>C, NM_001353828.1:c.930T>C, NM_001353831.2:c.576T>C, NM_001353831.1:c.576T>C, NM_001330234.2:c.1119T>C, NM_001330234.1:c.1119T>C, NM_001272011.2:c.1032T>C, NM_001272011.1:c.1032T>C, NM_001353827.2:c.1029T>C, NM_001353827.1:c.1029T>C, XM_017021558.2:c.*128T>C, XM_017021558.1:c.*128T>C, NM_001353829.2:c.807T>C, NM_001353829.1:c.807T>C, NM_001353830.2:c.804T>C, NM_001353830.1:c.804T>C, NR_148552.2:n.1113T>C, NR_148552.1:n.1149T>C, NR_073541.2:n.628T>C, NR_073541.1:n.634T>C, NM_001353832.2:c.420T>C, NM_001353832.1:c.420T>C, NR_073542.2:n.581T>C, NR_073542.1:n.587T>C, NR_073543.2:n.544T>C, NR_073543.1:n.550T>C, XM_047431650.1:c.420T>C, XM_047431645.1:c.669T>C, XM_047431643.1:c.*128T>C, XM_047431644.1:c.*128T>C

                    10.

                    rs1437702579 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      14:102231816 (GRCh38)
                      14:102698153 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:102231815:G:A
                      Gene:
                      MOK (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000008/2 (GnomAD_exomes)
                      A=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000014.9:g.102231816G>A, NC_000014.8:g.102698153G>A, NM_014226.3:c.872C>T, NM_014226.2:c.872C>T, NM_001353828.2:c.680C>T, NM_001353828.1:c.680C>T, NM_001353831.2:c.326C>T, NM_001353831.1:c.326C>T, NM_001330234.2:c.869C>T, NM_001330234.1:c.869C>T, NM_001272011.2:c.782C>T, NM_001272011.1:c.782C>T, NM_001353827.2:c.779C>T, NM_001353827.1:c.779C>T, NM_001353829.2:c.557C>T, NM_001353829.1:c.557C>T, NM_001353830.2:c.554C>T, NM_001353830.1:c.554C>T, NM_001353832.2:c.170C>T, NM_001353832.1:c.170C>T, XR_007064039.1:n.1068C>T, XM_047431650.1:c.170C>T, XM_047431645.1:c.419C>T, XM_047431643.1:c.872C>T, NP_055041.1:p.Thr291Ile, NP_001340757.1:p.Thr227Ile, NP_001340760.1:p.Thr109Ile, NP_001317163.1:p.Thr290Ile, NP_001258940.1:p.Thr261Ile, NP_001340756.1:p.Thr260Ile, NP_001340758.1:p.Thr186Ile, NP_001340759.1:p.Thr185Ile, NP_001340761.1:p.Thr57Ile, XP_047287606.1:p.Thr57Ile, XP_047287601.1:p.Thr140Ile, XP_047287599.1:p.Thr291Ile

                      11.

                      rs1431326156 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A,C [Show Flanks]
                        Chromosome:
                        14:102232694 (GRCh38)
                        14:102699031 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:102232693:T:A,NC_000014.9:102232693:T:C
                        Gene:
                        MOK (Varview)
                        Functional Consequence:
                        missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000014.9:g.102232694T>A, NC_000014.9:g.102232694T>C, NC_000014.8:g.102699031T>A, NC_000014.8:g.102699031T>C, XM_006720226.4:c.707A>T, XM_006720226.4:c.707A>G, XM_006720226.3:c.707A>T, XM_006720226.3:c.707A>G, XM_006720226.2:c.707A>T, XM_006720226.2:c.707A>G, XM_006720226.1:c.707A>T, XM_006720226.1:c.707A>G, NR_073540.3:n.281A>T, NR_073540.3:n.281A>G, NR_073540.2:n.287A>T, NR_073540.2:n.287A>G, NR_073540.1:n.287A>T, NR_073540.1:n.287A>G, NM_014226.3:c.707A>T, NM_014226.3:c.707A>G, NM_014226.2:c.707A>T, NM_014226.2:c.707A>G, XM_017021557.3:c.617A>T, XM_017021557.3:c.617A>G, XM_017021557.2:c.617A>T, XM_017021557.2:c.617A>G, XM_017021557.1:c.617A>T, XM_017021557.1:c.617A>G, NR_148553.2:n.810A>T, NR_148553.2:n.810A>G, NR_148553.1:n.846A>T, NR_148553.1:n.846A>G, NR_148555.2:n.739A>T, NR_148555.2:n.739A>G, NR_148555.1:n.775A>T, NR_148555.1:n.775A>G, NM_001353828.2:c.515A>T, NM_001353828.2:c.515A>G, NM_001353828.1:c.515A>T, NM_001353828.1:c.515A>G, NM_001353831.2:c.161A>T, NM_001353831.2:c.161A>G, NM_001353831.1:c.161A>T, NM_001353831.1:c.161A>G, NM_001330234.2:c.704A>T, NM_001330234.2:c.704A>G, NM_001330234.1:c.704A>T, NM_001330234.1:c.704A>G, NM_001272011.2:c.617A>T, NM_001272011.2:c.617A>G, NM_001272011.1:c.617A>T, NM_001272011.1:c.617A>G, NM_001353827.2:c.614A>T, NM_001353827.2:c.614A>G, NM_001353827.1:c.614A>T, NM_001353827.1:c.614A>G, XM_017021558.2:c.614A>T, XM_017021558.2:c.614A>G, XM_017021558.1:c.614A>T, XM_017021558.1:c.614A>G, NM_001353829.2:c.392A>T, NM_001353829.2:c.392A>G, NM_001353829.1:c.392A>T, NM_001353829.1:c.392A>G, NM_001353830.2:c.389A>T, NM_001353830.2:c.389A>G, NM_001353830.1:c.389A>T, NM_001353830.1:c.389A>G, NR_148552.2:n.813A>T, NR_148552.2:n.813A>G, NR_148552.1:n.849A>T, NR_148552.1:n.849A>G, NR_073541.2:n.328A>T, NR_073541.2:n.328A>G, NR_073541.1:n.334A>T, NR_073541.1:n.334A>G, NM_001353832.2:c.5A>T, NM_001353832.2:c.5A>G, NM_001353832.1:c.5A>T, NM_001353832.1:c.5A>G, NR_073542.2:n.281A>T, NR_073542.2:n.281A>G, NR_073542.1:n.287A>T, NR_073542.1:n.287A>G, XR_007064039.1:n.903A>T, XR_007064039.1:n.903A>G, XR_007064040.1:n.903A>T, XR_007064040.1:n.903A>G, XR_007064041.1:n.900A>T, XR_007064041.1:n.900A>G, XM_047431650.1:c.5A>T, XM_047431650.1:c.5A>G, XM_047431645.1:c.254A>T, XM_047431645.1:c.254A>G, XM_047431643.1:c.707A>T, XM_047431643.1:c.707A>G, XM_047431644.1:c.704A>T, XM_047431644.1:c.704A>G, XM_047431646.1:c.617A>T, XM_047431646.1:c.617A>G, XM_047431647.1:c.614A>T, XM_047431647.1:c.614A>G, XP_006720289.1:p.Asn236Ile, XP_006720289.1:p.Asn236Ser, NP_055041.1:p.Asn236Ile, NP_055041.1:p.Asn236Ser, XP_016877046.1:p.Asn206Ile, XP_016877046.1:p.Asn206Ser, NP_001340757.1:p.Asn172Ile, NP_001340757.1:p.Asn172Ser, NP_001340760.1:p.Asn54Ile, NP_001340760.1:p.Asn54Ser, NP_001317163.1:p.Asn235Ile, NP_001317163.1:p.Asn235Ser, NP_001258940.1:p.Asn206Ile, NP_001258940.1:p.Asn206Ser, NP_001340756.1:p.Asn205Ile, NP_001340756.1:p.Asn205Ser, XP_016877047.1:p.Asn205Ile, XP_016877047.1:p.Asn205Ser, NP_001340758.1:p.Asn131Ile, NP_001340758.1:p.Asn131Ser, NP_001340759.1:p.Asn130Ile, NP_001340759.1:p.Asn130Ser, NP_001340761.1:p.Asn2Ile, NP_001340761.1:p.Asn2Ser, XP_047287606.1:p.Asn2Ile, XP_047287606.1:p.Asn2Ser, XP_047287601.1:p.Asn85Ile, XP_047287601.1:p.Asn85Ser, XP_047287599.1:p.Asn236Ile, XP_047287599.1:p.Asn236Ser, XP_047287600.1:p.Asn235Ile, XP_047287600.1:p.Asn235Ser, XP_047287602.1:p.Asn206Ile, XP_047287602.1:p.Asn206Ser, XP_047287603.1:p.Asn205Ile, XP_047287603.1:p.Asn205Ser

                        12.

                        rs1429240050 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          14:102231733 (GRCh38)
                          14:102698070 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:102231732:G:A
                          Gene:
                          MOK (Varview)
                          Functional Consequence:
                          intron_variant,stop_gained,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000024/1 (ALFA)
                          A=0.000021/3 (GnomAD)
                          A=0.000026/7 (TOPMED)
                          A=0.000028/7 (GnomAD_exomes)
                          HGVS:
                          NC_000014.9:g.102231733G>A, NC_000014.8:g.102698070G>A, NM_014226.3:c.955C>T, NM_014226.2:c.955C>T, NM_001353828.2:c.763C>T, NM_001353828.1:c.763C>T, NM_001353831.2:c.409C>T, NM_001353831.1:c.409C>T, NM_001330234.2:c.952C>T, NM_001330234.1:c.952C>T, NM_001272011.2:c.865C>T, NM_001272011.1:c.865C>T, NM_001353827.2:c.862C>T, NM_001353827.1:c.862C>T, NM_001353829.2:c.640C>T, NM_001353829.1:c.640C>T, NM_001353830.2:c.637C>T, NM_001353830.1:c.637C>T, NM_001353832.2:c.253C>T, NM_001353832.1:c.253C>T, XR_007064039.1:n.1151C>T, XM_047431650.1:c.253C>T, XM_047431645.1:c.502C>T, XM_047431643.1:c.955C>T, NP_055041.1:p.Gln319Ter, NP_001340757.1:p.Gln255Ter, NP_001340760.1:p.Gln137Ter, NP_001317163.1:p.Gln318Ter, NP_001258940.1:p.Gln289Ter, NP_001340756.1:p.Gln288Ter, NP_001340758.1:p.Gln214Ter, NP_001340759.1:p.Gln213Ter, NP_001340761.1:p.Gln85Ter, XP_047287606.1:p.Gln85Ter, XP_047287601.1:p.Gln168Ter, XP_047287599.1:p.Gln319Ter

                          13.

                          rs1422305127 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            14:102229642 (GRCh38)
                            14:102695979 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:102229641:G:A
                            Gene:
                            MOK (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,intron_variant,stop_gained,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000028/1 (ALFA)
                            A=0.000019/5 (TOPMED)
                            A=0.000021/3 (GnomAD)
                            HGVS:
                            NC_000014.9:g.102229642G>A, NC_000014.8:g.102695979G>A, XM_006720226.4:c.*3C>T, XM_006720226.3:c.*3C>T, XM_006720226.2:c.*3C>T, XM_006720226.1:c.*3C>T, NM_014226.3:c.997C>T, NM_014226.2:c.997C>T, XM_017021557.3:c.*3C>T, XM_017021557.2:c.*3C>T, XM_017021557.1:c.*3C>T, NM_001353828.2:c.805C>T, NM_001353828.1:c.805C>T, NM_001353831.2:c.451C>T, NM_001353831.1:c.451C>T, NM_001330234.2:c.994C>T, NM_001330234.1:c.994C>T, NM_001272011.2:c.907C>T, NM_001272011.1:c.907C>T, NM_001353827.2:c.904C>T, NM_001353827.1:c.904C>T, XM_017021558.2:c.*3C>T, XM_017021558.1:c.*3C>T, NM_001353829.2:c.682C>T, NM_001353829.1:c.682C>T, NM_001353830.2:c.679C>T, NM_001353830.1:c.679C>T, NR_148552.2:n.988C>T, NR_148552.1:n.1024C>T, NR_073541.2:n.503C>T, NR_073541.1:n.509C>T, NM_001353832.2:c.295C>T, NM_001353832.1:c.295C>T, NR_073542.2:n.456C>T, NR_073542.1:n.462C>T, NR_073543.2:n.419C>T, NR_073543.1:n.425C>T, XM_047431650.1:c.295C>T, XM_047431645.1:c.544C>T, XM_047431643.1:c.*3C>T, XM_047431644.1:c.*3C>T, NP_055041.1:p.Gln333Ter, NP_001340757.1:p.Gln269Ter, NP_001340760.1:p.Gln151Ter, NP_001317163.1:p.Gln332Ter, NP_001258940.1:p.Gln303Ter, NP_001340756.1:p.Gln302Ter, NP_001340758.1:p.Gln228Ter, NP_001340759.1:p.Gln227Ter, NP_001340761.1:p.Gln99Ter, XP_047287606.1:p.Gln99Ter, XP_047287601.1:p.Gln182Ter

                            14.

                            rs1417483213 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              14:102229339 (GRCh38)
                              14:102695676 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:102229338:C:A
                              Gene:
                              MOK (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                              HGVS:
                              NC_000014.9:g.102229339C>A, NC_000014.8:g.102695676C>A, XM_006720226.4:c.*306G>T, XM_006720226.3:c.*306G>T, XM_006720226.2:c.*306G>T, XM_006720226.1:c.*306G>T, NM_014226.3:c.1210G>T, NM_014226.2:c.1210G>T, XM_017021557.3:c.*306G>T, XM_017021557.2:c.*306G>T, XM_017021557.1:c.*306G>T, NM_001353828.2:c.1018G>T, NM_001353828.1:c.1018G>T, NM_001353831.2:c.664G>T, NM_001353831.1:c.664G>T, NM_001330234.2:c.1207G>T, NM_001330234.1:c.1207G>T, NM_001272011.2:c.1120G>T, NM_001272011.1:c.1120G>T, NM_001353827.2:c.1117G>T, NM_001353827.1:c.1117G>T, XM_017021558.2:c.*306G>T, XM_017021558.1:c.*306G>T, NM_001353829.2:c.895G>T, NM_001353829.1:c.895G>T, NM_001353830.2:c.892G>T, NM_001353830.1:c.892G>T, NR_148552.2:n.1201G>T, NR_148552.1:n.1237G>T, NR_073541.2:n.716G>T, NR_073541.1:n.722G>T, NM_001353832.2:c.508G>T, NM_001353832.1:c.508G>T, NR_073542.2:n.669G>T, NR_073542.1:n.675G>T, NR_073543.2:n.632G>T, NR_073543.1:n.638G>T, XM_047431650.1:c.508G>T, XM_047431645.1:c.757G>T, XM_047431643.1:c.*306G>T, XM_047431644.1:c.*306G>T, NP_055041.1:p.Ala404Ser, NP_001340757.1:p.Ala340Ser, NP_001340760.1:p.Ala222Ser, NP_001317163.1:p.Ala403Ser, NP_001258940.1:p.Ala374Ser, NP_001340756.1:p.Ala373Ser, NP_001340758.1:p.Ala299Ser, NP_001340759.1:p.Ala298Ser, NP_001340761.1:p.Ala170Ser, XP_047287606.1:p.Ala170Ser, XP_047287601.1:p.Ala253Ser

                              15.

                              rs1416644350 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                14:102229627 (GRCh38)
                                14:102695964 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:102229626:G:A
                                Gene:
                                MOK (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                G=0.5/1 (SGDP_PRJ)
                                HGVS:
                                NC_000014.9:g.102229627G>A, NC_000014.8:g.102695964G>A, XM_006720226.4:c.*18C>T, XM_006720226.3:c.*18C>T, XM_006720226.2:c.*18C>T, XM_006720226.1:c.*18C>T, NM_014226.3:c.1012C>T, NM_014226.2:c.1012C>T, XM_017021557.3:c.*18C>T, XM_017021557.2:c.*18C>T, XM_017021557.1:c.*18C>T, NM_001353828.2:c.820C>T, NM_001353828.1:c.820C>T, NM_001353831.2:c.466C>T, NM_001353831.1:c.466C>T, NM_001330234.2:c.1009C>T, NM_001330234.1:c.1009C>T, NM_001272011.2:c.922C>T, NM_001272011.1:c.922C>T, NM_001353827.2:c.919C>T, NM_001353827.1:c.919C>T, XM_017021558.2:c.*18C>T, XM_017021558.1:c.*18C>T, NM_001353829.2:c.697C>T, NM_001353829.1:c.697C>T, NM_001353830.2:c.694C>T, NM_001353830.1:c.694C>T, NR_148552.2:n.1003C>T, NR_148552.1:n.1039C>T, NR_073541.2:n.518C>T, NR_073541.1:n.524C>T, NM_001353832.2:c.310C>T, NM_001353832.1:c.310C>T, NR_073542.2:n.471C>T, NR_073542.1:n.477C>T, NR_073543.2:n.434C>T, NR_073543.1:n.440C>T, XM_047431650.1:c.310C>T, XM_047431645.1:c.559C>T, XM_047431643.1:c.*18C>T, XM_047431644.1:c.*18C>T, NP_055041.1:p.Pro338Ser, NP_001340757.1:p.Pro274Ser, NP_001340760.1:p.Pro156Ser, NP_001317163.1:p.Pro337Ser, NP_001258940.1:p.Pro308Ser, NP_001340756.1:p.Pro307Ser, NP_001340758.1:p.Pro233Ser, NP_001340759.1:p.Pro232Ser, NP_001340761.1:p.Pro104Ser, XP_047287606.1:p.Pro104Ser, XP_047287601.1:p.Pro187Ser

                                16.

                                rs1411537268 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  14:102232555 (GRCh38)
                                  14:102698892 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:102232554:G:A,NC_000014.9:102232554:G:T
                                  Gene:
                                  MOK (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,intron_variant,missense_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                  HGVS:
                                  NC_000014.9:g.102232555G>A, NC_000014.9:g.102232555G>T, NC_000014.8:g.102698892G>A, NC_000014.8:g.102698892G>T, XM_006720226.4:c.846C>T, XM_006720226.4:c.846C>A, XM_006720226.3:c.846C>T, XM_006720226.3:c.846C>A, XM_006720226.2:c.846C>T, XM_006720226.2:c.846C>A, XM_006720226.1:c.846C>T, XM_006720226.1:c.846C>A, NR_073540.3:n.420C>T, NR_073540.3:n.420C>A, NR_073540.2:n.426C>T, NR_073540.2:n.426C>A, NR_073540.1:n.426C>T, NR_073540.1:n.426C>A, NM_014226.3:c.846C>T, NM_014226.3:c.846C>A, NM_014226.2:c.846C>T, NM_014226.2:c.846C>A, XM_017021557.3:c.756C>T, XM_017021557.3:c.756C>A, XM_017021557.2:c.756C>T, XM_017021557.2:c.756C>A, XM_017021557.1:c.756C>T, XM_017021557.1:c.756C>A, NR_148553.2:n.949C>T, NR_148553.2:n.949C>A, NR_148553.1:n.985C>T, NR_148553.1:n.985C>A, NR_148555.2:n.878C>T, NR_148555.2:n.878C>A, NR_148555.1:n.914C>T, NR_148555.1:n.914C>A, NM_001353828.2:c.654C>T, NM_001353828.2:c.654C>A, NM_001353828.1:c.654C>T, NM_001353828.1:c.654C>A, NM_001353831.2:c.300C>T, NM_001353831.2:c.300C>A, NM_001353831.1:c.300C>T, NM_001353831.1:c.300C>A, NM_001330234.2:c.843C>T, NM_001330234.2:c.843C>A, NM_001330234.1:c.843C>T, NM_001330234.1:c.843C>A, NM_001272011.2:c.756C>T, NM_001272011.2:c.756C>A, NM_001272011.1:c.756C>T, NM_001272011.1:c.756C>A, NM_001353827.2:c.753C>T, NM_001353827.2:c.753C>A, NM_001353827.1:c.753C>T, NM_001353827.1:c.753C>A, XM_017021558.2:c.753C>T, XM_017021558.2:c.753C>A, XM_017021558.1:c.753C>T, XM_017021558.1:c.753C>A, NM_001353829.2:c.531C>T, NM_001353829.2:c.531C>A, NM_001353829.1:c.531C>T, NM_001353829.1:c.531C>A, NM_001353830.2:c.528C>T, NM_001353830.2:c.528C>A, NM_001353830.1:c.528C>T, NM_001353830.1:c.528C>A, NR_148552.2:n.952C>T, NR_148552.2:n.952C>A, NR_148552.1:n.988C>T, NR_148552.1:n.988C>A, NR_073541.2:n.467C>T, NR_073541.2:n.467C>A, NR_073541.1:n.473C>T, NR_073541.1:n.473C>A, NM_001353832.2:c.144C>T, NM_001353832.2:c.144C>A, NM_001353832.1:c.144C>T, NM_001353832.1:c.144C>A, NR_073542.2:n.420C>T, NR_073542.2:n.420C>A, NR_073542.1:n.426C>T, NR_073542.1:n.426C>A, NR_073543.2:n.383C>T, NR_073543.2:n.383C>A, NR_073543.1:n.389C>T, NR_073543.1:n.389C>A, XR_007064039.1:n.1042C>T, XR_007064039.1:n.1042C>A, XR_007064040.1:n.1042C>T, XR_007064040.1:n.1042C>A, XR_007064041.1:n.1039C>T, XR_007064041.1:n.1039C>A, XM_047431650.1:c.144C>T, XM_047431650.1:c.144C>A, XM_047431645.1:c.393C>T, XM_047431645.1:c.393C>A, XM_047431643.1:c.846C>T, XM_047431643.1:c.846C>A, XM_047431644.1:c.843C>T, XM_047431644.1:c.843C>A, XM_047431646.1:c.756C>T, XM_047431646.1:c.756C>A, XM_047431647.1:c.753C>T, XM_047431647.1:c.753C>A, XM_047431648.1:c.*95C>T, XM_047431648.1:c.*95C>A, XM_047431649.1:c.*95C>T, XM_047431649.1:c.*95C>A, XP_006720289.1:p.His282Gln, NP_055041.1:p.His282Gln, XP_016877046.1:p.His252Gln, NP_001340757.1:p.His218Gln, NP_001340760.1:p.His100Gln, NP_001317163.1:p.His281Gln, NP_001258940.1:p.His252Gln, NP_001340756.1:p.His251Gln, XP_016877047.1:p.His251Gln, NP_001340758.1:p.His177Gln, NP_001340759.1:p.His176Gln, NP_001340761.1:p.His48Gln, XP_047287606.1:p.His48Gln, XP_047287601.1:p.His131Gln, XP_047287599.1:p.His282Gln, XP_047287600.1:p.His281Gln, XP_047287602.1:p.His252Gln, XP_047287603.1:p.His251Gln

                                  17.

                                  rs1406566883 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    14:102229620 (GRCh38)
                                    14:102695957 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:102229619:C:A
                                    Gene:
                                    MOK (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000014.9:g.102229620C>A, NC_000014.8:g.102695957C>A, XM_006720226.4:c.*25G>T, XM_006720226.3:c.*25G>T, XM_006720226.2:c.*25G>T, XM_006720226.1:c.*25G>T, NM_014226.3:c.1019G>T, NM_014226.2:c.1019G>T, XM_017021557.3:c.*25G>T, XM_017021557.2:c.*25G>T, XM_017021557.1:c.*25G>T, NM_001353828.2:c.827G>T, NM_001353828.1:c.827G>T, NM_001353831.2:c.473G>T, NM_001353831.1:c.473G>T, NM_001330234.2:c.1016G>T, NM_001330234.1:c.1016G>T, NM_001272011.2:c.929G>T, NM_001272011.1:c.929G>T, NM_001353827.2:c.926G>T, NM_001353827.1:c.926G>T, XM_017021558.2:c.*25G>T, XM_017021558.1:c.*25G>T, NM_001353829.2:c.704G>T, NM_001353829.1:c.704G>T, NM_001353830.2:c.701G>T, NM_001353830.1:c.701G>T, NR_148552.2:n.1010G>T, NR_148552.1:n.1046G>T, NR_073541.2:n.525G>T, NR_073541.1:n.531G>T, NM_001353832.2:c.317G>T, NM_001353832.1:c.317G>T, NR_073542.2:n.478G>T, NR_073542.1:n.484G>T, NR_073543.2:n.441G>T, NR_073543.1:n.447G>T, XM_047431650.1:c.317G>T, XM_047431645.1:c.566G>T, XM_047431643.1:c.*25G>T, XM_047431644.1:c.*25G>T, NP_055041.1:p.Arg340Ile, NP_001340757.1:p.Arg276Ile, NP_001340760.1:p.Arg158Ile, NP_001317163.1:p.Arg339Ile, NP_001258940.1:p.Arg310Ile, NP_001340756.1:p.Arg309Ile, NP_001340758.1:p.Arg235Ile, NP_001340759.1:p.Arg234Ile, NP_001340761.1:p.Arg106Ile, XP_047287606.1:p.Arg106Ile, XP_047287601.1:p.Arg189Ile

                                    18.

                                    rs1403898066 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      14:102232544 (GRCh38)
                                      14:102698881 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:102232543:T:C
                                      Gene:
                                      MOK (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000015/4 (TOPMED)
                                      HGVS:
                                      NC_000014.9:g.102232544T>C, NC_000014.8:g.102698881T>C, XM_006720226.4:c.857A>G, XM_006720226.3:c.857A>G, XM_006720226.2:c.857A>G, XM_006720226.1:c.857A>G, NR_073540.3:n.431A>G, NR_073540.2:n.437A>G, NR_073540.1:n.437A>G, NM_014226.3:c.857A>G, NM_014226.2:c.857A>G, XM_017021557.3:c.767A>G, XM_017021557.2:c.767A>G, XM_017021557.1:c.767A>G, NR_148553.2:n.960A>G, NR_148553.1:n.996A>G, NR_148555.2:n.889A>G, NR_148555.1:n.925A>G, NM_001353828.2:c.665A>G, NM_001353828.1:c.665A>G, NM_001353831.2:c.311A>G, NM_001353831.1:c.311A>G, NM_001330234.2:c.854A>G, NM_001330234.1:c.854A>G, NM_001272011.2:c.767A>G, NM_001272011.1:c.767A>G, NM_001353827.2:c.764A>G, NM_001353827.1:c.764A>G, XM_017021558.2:c.764A>G, XM_017021558.1:c.764A>G, NM_001353829.2:c.542A>G, NM_001353829.1:c.542A>G, NM_001353830.2:c.539A>G, NM_001353830.1:c.539A>G, NR_148552.2:n.963A>G, NR_148552.1:n.999A>G, NR_073541.2:n.478A>G, NR_073541.1:n.484A>G, NM_001353832.2:c.155A>G, NM_001353832.1:c.155A>G, NR_073542.2:n.431A>G, NR_073542.1:n.437A>G, NR_073543.2:n.394A>G, NR_073543.1:n.400A>G, XR_007064039.1:n.1053A>G, XR_007064040.1:n.1053A>G, XR_007064041.1:n.1050A>G, XM_047431650.1:c.155A>G, XM_047431645.1:c.404A>G, XM_047431643.1:c.857A>G, XM_047431644.1:c.854A>G, XM_047431646.1:c.767A>G, XM_047431647.1:c.764A>G, XM_047431648.1:c.*106A>G, XM_047431649.1:c.*106A>G, XP_006720289.1:p.Gln286Arg, NP_055041.1:p.Gln286Arg, XP_016877046.1:p.Gln256Arg, NP_001340757.1:p.Gln222Arg, NP_001340760.1:p.Gln104Arg, NP_001317163.1:p.Gln285Arg, NP_001258940.1:p.Gln256Arg, NP_001340756.1:p.Gln255Arg, XP_016877047.1:p.Gln255Arg, NP_001340758.1:p.Gln181Arg, NP_001340759.1:p.Gln180Arg, NP_001340761.1:p.Gln52Arg, XP_047287606.1:p.Gln52Arg, XP_047287601.1:p.Gln135Arg, XP_047287599.1:p.Gln286Arg, XP_047287600.1:p.Gln285Arg, XP_047287602.1:p.Gln256Arg, XP_047287603.1:p.Gln255Arg

                                      19.

                                      rs1402823949 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        14:102231797 (GRCh38)
                                        14:102698134 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:102231796:G:T
                                        Gene:
                                        MOK (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000011/3 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1400094618 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          14:102229508 (GRCh38)
                                          14:102695845 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:102229507:A:G
                                          Gene:
                                          MOK (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
                                          HGVS:
                                          NC_000014.9:g.102229508A>G, NC_000014.8:g.102695845A>G, XM_006720226.4:c.*137T>C, XM_006720226.3:c.*137T>C, XM_006720226.2:c.*137T>C, XM_006720226.1:c.*137T>C, NM_014226.3:c.1131T>C, NM_014226.2:c.1131T>C, XM_017021557.3:c.*137T>C, XM_017021557.2:c.*137T>C, XM_017021557.1:c.*137T>C, NM_001353828.2:c.939T>C, NM_001353828.1:c.939T>C, NM_001353831.2:c.585T>C, NM_001353831.1:c.585T>C, NM_001330234.2:c.1128T>C, NM_001330234.1:c.1128T>C, NM_001272011.2:c.1041T>C, NM_001272011.1:c.1041T>C, NM_001353827.2:c.1038T>C, NM_001353827.1:c.1038T>C, XM_017021558.2:c.*137T>C, XM_017021558.1:c.*137T>C, NM_001353829.2:c.816T>C, NM_001353829.1:c.816T>C, NM_001353830.2:c.813T>C, NM_001353830.1:c.813T>C, NR_148552.2:n.1122T>C, NR_148552.1:n.1158T>C, NR_073541.2:n.637T>C, NR_073541.1:n.643T>C, NM_001353832.2:c.429T>C, NM_001353832.1:c.429T>C, NR_073542.2:n.590T>C, NR_073542.1:n.596T>C, NR_073543.2:n.553T>C, NR_073543.1:n.559T>C, XM_047431650.1:c.429T>C, XM_047431645.1:c.678T>C, XM_047431643.1:c.*137T>C, XM_047431644.1:c.*137T>C

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