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Items: 1 to 20 of 613

1.

rs1488877953 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    9:36665534 (GRCh38)
    9:36665531 (GRCh37)
    Canonical SPDI:
    NC_000009.12:36665533:A:G
    Gene:
    MELK (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (GnomAD_exomes)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000009.12:g.36665534A>G, NC_000009.11:g.36665531A>G, NM_014791.4:c.1361A>G, NM_014791.3:c.1361A>G, XM_011518076.3:c.1361A>G, XM_011518076.2:c.1361A>G, XM_011518076.1:c.1361A>G, XM_011518082.3:c.1265A>G, XM_011518082.2:c.1265A>G, XM_011518082.1:c.1265A>G, XM_011518081.3:c.1265A>G, XM_011518081.2:c.1265A>G, XM_011518081.1:c.1265A>G, XM_011518077.2:c.1361A>G, XM_011518077.1:c.1361A>G, NR_046337.2:n.1549A>G, NR_046337.1:n.1582A>G, NM_001256689.2:c.1265A>G, NM_001256689.1:c.1265A>G, NM_001256685.2:c.1238A>G, NM_001256685.1:c.1238A>G, NM_001256687.2:c.1217A>G, NM_001256687.1:c.1217A>G, XM_011518085.2:c.1112A>G, XM_011518085.1:c.1112A>G, NM_001256693.2:c.779A>G, NM_001256693.1:c.779A>G, NM_001256690.2:c.1148A>G, NM_001256690.1:c.1148A>G, NM_001256688.2:c.1148A>G, NM_001256688.1:c.1148A>G, NM_001256691.2:c.1121A>G, NM_001256691.1:c.1121A>G, NM_001256692.2:c.968A>G, NM_001256692.1:c.968A>G, XM_047424166.1:c.1361A>G, XM_047424168.1:c.1274A>G, XM_047424171.1:c.1238A>G, XM_047424173.1:c.1217A>G, XM_047424177.1:c.1178A>G, XM_047424169.1:c.1274A>G, XM_047424182.1:c.1142A>G, XM_047424180.1:c.1151A>G, XM_047424187.1:c.1121A>G, XM_047424185.1:c.1130A>G, XM_047424170.1:c.1238A>G, XM_047424172.1:c.1217A>G, XM_047424192.1:c.1094A>G, XM_011518080.1:c.1274A>G, XM_047424176.1:c.1178A>G, XM_047424195.1:c.1055A>G, XM_047424183.1:c.1142A>G, XM_047424179.1:c.1151A>G, XM_047424188.1:c.1121A>G, XM_047424186.1:c.1130A>G, XM_047424204.1:c.998A>G, XM_047424174.1:c.1178A>G, XM_047424191.1:c.1094A>G, XM_047424181.1:c.1142A>G, XM_047424178.1:c.1151A>G, XM_047424193.1:c.1055A>G, XM_047424184.1:c.1130A>G, XM_047424197.1:c.1034A>G, XM_047424189.1:c.1094A>G, XM_047424198.1:c.1025A>G, XM_047424203.1:c.998A>G, XM_047424200.1:c.1007A>G, XM_047424194.1:c.1055A>G, XM_047424205.1:c.989A>G, XM_047424196.1:c.1034A>G, XM_047424202.1:c.998A>G, XM_047424199.1:c.1007A>G, XM_047424206.1:c.911A>G, NP_055606.1:p.Lys454Arg, XP_011516378.1:p.Lys454Arg, XP_011516384.1:p.Lys422Arg, XP_011516383.1:p.Lys422Arg, XP_011516379.1:p.Lys454Arg, NP_001243618.1:p.Lys422Arg, NP_001243614.1:p.Lys413Arg, NP_001243616.1:p.Lys406Arg, XP_011516387.1:p.Lys371Arg, NP_001243622.1:p.Lys260Arg, NP_001243619.1:p.Lys383Arg, NP_001243617.1:p.Lys383Arg, NP_001243620.1:p.Lys374Arg, NP_001243621.1:p.Lys323Arg, XP_047280122.1:p.Lys454Arg, XP_047280124.1:p.Lys425Arg, XP_047280127.1:p.Lys413Arg, XP_047280129.1:p.Lys406Arg, XP_047280133.1:p.Lys393Arg, XP_047280125.1:p.Lys425Arg, XP_047280138.1:p.Lys381Arg, XP_047280136.1:p.Lys384Arg, XP_047280143.1:p.Lys374Arg, XP_047280141.1:p.Lys377Arg, XP_047280126.1:p.Lys413Arg, XP_047280128.1:p.Lys406Arg, XP_047280148.1:p.Lys365Arg, XP_011516382.1:p.Lys425Arg, XP_047280132.1:p.Lys393Arg, XP_047280151.1:p.Lys352Arg, XP_047280139.1:p.Lys381Arg, XP_047280135.1:p.Lys384Arg, XP_047280144.1:p.Lys374Arg, XP_047280142.1:p.Lys377Arg, XP_047280160.1:p.Lys333Arg, XP_047280130.1:p.Lys393Arg, XP_047280147.1:p.Lys365Arg, XP_047280137.1:p.Lys381Arg, XP_047280134.1:p.Lys384Arg, XP_047280149.1:p.Lys352Arg, XP_047280140.1:p.Lys377Arg, XP_047280153.1:p.Lys345Arg, XP_047280145.1:p.Lys365Arg, XP_047280154.1:p.Lys342Arg, XP_047280159.1:p.Lys333Arg, XP_047280156.1:p.Lys336Arg, XP_047280150.1:p.Lys352Arg, XP_047280161.1:p.Lys330Arg, XP_047280152.1:p.Lys345Arg, XP_047280158.1:p.Lys333Arg, XP_047280155.1:p.Lys336Arg, XP_047280162.1:p.Lys304Arg

    2.

    rs1487445346 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      9:36651791 (GRCh38)
      9:36651788 (GRCh37)
      Canonical SPDI:
      NC_000009.12:36651790:A:G
      Gene:
      MELK (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,missense_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0.000111/1 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000009.12:g.36651791A>G, NC_000009.11:g.36651788A>G, NM_014791.4:c.967A>G, NM_014791.3:c.967A>G, XM_011518076.3:c.967A>G, XM_011518076.2:c.967A>G, XM_011518076.1:c.967A>G, XM_011518082.3:c.871A>G, XM_011518082.2:c.871A>G, XM_011518082.1:c.871A>G, XM_011518081.3:c.871A>G, XM_011518081.2:c.871A>G, XM_011518081.1:c.871A>G, XM_011518077.2:c.967A>G, XM_011518077.1:c.967A>G, NR_046337.2:n.1155A>G, NR_046337.1:n.1188A>G, NM_001256689.2:c.871A>G, NM_001256689.1:c.871A>G, NM_001256685.2:c.967A>G, NM_001256685.1:c.967A>G, NM_001256687.2:c.823A>G, NM_001256687.1:c.823A>G, XM_011518085.2:c.718A>G, XM_011518085.1:c.718A>G, NM_001256693.2:c.385A>G, NM_001256693.1:c.385A>G, NM_001256690.2:c.754A>G, NM_001256690.1:c.754A>G, NM_001256688.2:c.754A>G, NM_001256688.1:c.754A>G, NM_001256691.2:c.727A>G, NM_001256691.1:c.727A>G, NM_001256692.2:c.574A>G, NM_001256692.1:c.574A>G, XM_047424166.1:c.967A>G, XM_047424168.1:c.880A>G, XM_047424171.1:c.967A>G, XM_047424173.1:c.823A>G, XM_047424177.1:c.784A>G, XM_047424169.1:c.880A>G, XM_047424182.1:c.871A>G, XM_047424180.1:c.880A>G, XM_047424187.1:c.727A>G, XM_047424185.1:c.736A>G, XM_047424170.1:c.967A>G, XM_047424172.1:c.823A>G, XM_047424192.1:c.823A>G, XM_011518080.1:c.880A>G, XM_047424176.1:c.784A>G, XM_047424195.1:c.784A>G, XM_047424183.1:c.871A>G, XM_047424179.1:c.880A>G, XM_047424188.1:c.727A>G, XM_047424186.1:c.736A>G, XM_047424204.1:c.727A>G, XM_047424174.1:c.784A>G, XM_047424191.1:c.823A>G, XM_047424181.1:c.871A>G, XM_047424178.1:c.880A>G, XM_047424193.1:c.784A>G, XM_047424184.1:c.736A>G, XM_047424197.1:c.640A>G, XM_047424189.1:c.823A>G, XM_047424198.1:c.631A>G, XM_047424203.1:c.727A>G, XM_047424200.1:c.736A>G, XM_047424194.1:c.784A>G, XM_047424205.1:c.718A>G, XM_047424196.1:c.640A>G, XM_047424202.1:c.727A>G, XM_047424199.1:c.736A>G, XM_047424206.1:c.640A>G, NP_055606.1:p.Lys323Glu, XP_011516378.1:p.Lys323Glu, XP_011516384.1:p.Lys291Glu, XP_011516383.1:p.Lys291Glu, XP_011516379.1:p.Lys323Glu, NP_001243618.1:p.Lys291Glu, NP_001243614.1:p.Lys323Glu, NP_001243616.1:p.Lys275Glu, XP_011516387.1:p.Lys240Glu, NP_001243622.1:p.Lys129Glu, NP_001243619.1:p.Lys252Glu, NP_001243617.1:p.Lys252Glu, NP_001243620.1:p.Lys243Glu, NP_001243621.1:p.Lys192Glu, XP_047280122.1:p.Lys323Glu, XP_047280124.1:p.Lys294Glu, XP_047280127.1:p.Lys323Glu, XP_047280129.1:p.Lys275Glu, XP_047280133.1:p.Lys262Glu, XP_047280125.1:p.Lys294Glu, XP_047280138.1:p.Lys291Glu, XP_047280136.1:p.Lys294Glu, XP_047280143.1:p.Lys243Glu, XP_047280141.1:p.Lys246Glu, XP_047280126.1:p.Lys323Glu, XP_047280128.1:p.Lys275Glu, XP_047280148.1:p.Lys275Glu, XP_011516382.1:p.Lys294Glu, XP_047280132.1:p.Lys262Glu, XP_047280151.1:p.Lys262Glu, XP_047280139.1:p.Lys291Glu, XP_047280135.1:p.Lys294Glu, XP_047280144.1:p.Lys243Glu, XP_047280142.1:p.Lys246Glu, XP_047280160.1:p.Lys243Glu, XP_047280130.1:p.Lys262Glu, XP_047280147.1:p.Lys275Glu, XP_047280137.1:p.Lys291Glu, XP_047280134.1:p.Lys294Glu, XP_047280149.1:p.Lys262Glu, XP_047280140.1:p.Lys246Glu, XP_047280153.1:p.Lys214Glu, XP_047280145.1:p.Lys275Glu, XP_047280154.1:p.Lys211Glu, XP_047280159.1:p.Lys243Glu, XP_047280156.1:p.Lys246Glu, XP_047280150.1:p.Lys262Glu, XP_047280161.1:p.Lys240Glu, XP_047280152.1:p.Lys214Glu, XP_047280158.1:p.Lys243Glu, XP_047280155.1:p.Lys246Glu, XP_047280162.1:p.Lys214Glu

      3.

      rs1486788878 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        9:36677226 (GRCh38)
        9:36677223 (GRCh37)
        Canonical SPDI:
        NC_000009.12:36677225:G:A
        Gene:
        MELK (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0.000047/1 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000009.12:g.36677226G>A, NC_000009.11:g.36677223G>A, NM_014791.4:c.1845G>A, NM_014791.3:c.1845G>A, XM_011518076.3:c.1845G>A, XM_011518076.2:c.1845G>A, XM_011518076.1:c.1845G>A, XM_011518082.3:c.1749G>A, XM_011518082.2:c.1749G>A, XM_011518082.1:c.1749G>A, XM_011518081.3:c.1749G>A, XM_011518081.2:c.1749G>A, XM_011518081.1:c.1749G>A, XM_011518077.2:c.1845G>A, XM_011518077.1:c.1845G>A, NR_046337.2:n.2033G>A, NR_046337.1:n.2066G>A, NM_001256689.2:c.1749G>A, NM_001256689.1:c.1749G>A, NM_001256685.2:c.1722G>A, NM_001256685.1:c.1722G>A, NM_001256687.2:c.1701G>A, NM_001256687.1:c.1701G>A, XM_011518085.2:c.1596G>A, XM_011518085.1:c.1596G>A, NM_001256693.2:c.1263G>A, NM_001256693.1:c.1263G>A, NM_001256690.2:c.1632G>A, NM_001256690.1:c.1632G>A, NM_001256688.2:c.1632G>A, NM_001256688.1:c.1632G>A, NM_001256691.2:c.1605G>A, NM_001256691.1:c.1605G>A, NM_001256692.2:c.1452G>A, NM_001256692.1:c.1452G>A, XM_047424166.1:c.1845G>A, XM_047424168.1:c.1758G>A, XM_047424171.1:c.1722G>A, XM_047424173.1:c.1701G>A, XM_047424177.1:c.1662G>A, XM_047424169.1:c.1758G>A, XM_047424182.1:c.1626G>A, XM_047424180.1:c.1635G>A, XM_047424187.1:c.1605G>A, XM_047424185.1:c.1614G>A, XM_047424170.1:c.1722G>A, XM_047424172.1:c.1701G>A, XM_047424192.1:c.1578G>A, XM_011518080.1:c.1758G>A, XM_047424176.1:c.1662G>A, XM_047424195.1:c.1539G>A, XM_047424183.1:c.1626G>A, XM_047424179.1:c.1635G>A, XM_047424188.1:c.1605G>A, XM_047424186.1:c.1614G>A, XM_047424204.1:c.1482G>A, XM_047424174.1:c.1662G>A, XM_047424191.1:c.1578G>A, XM_047424181.1:c.1626G>A, XM_047424178.1:c.1635G>A, XM_047424193.1:c.1539G>A, XM_047424184.1:c.1614G>A, XM_047424197.1:c.1518G>A, XM_047424189.1:c.1578G>A, XM_047424198.1:c.1509G>A, XM_047424203.1:c.1482G>A, XM_047424200.1:c.1491G>A, XM_047424194.1:c.1539G>A, XM_047424205.1:c.1473G>A, XM_047424196.1:c.1518G>A, XM_047424202.1:c.1482G>A, XM_047424199.1:c.1491G>A, XM_047424206.1:c.1395G>A

        4.

        rs1484482751 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTA>- [Show Flanks]
          Chromosome:
          9:36665395 (GRCh38)
          9:36665392 (GRCh37)
          Canonical SPDI:
          NC_000009.12:36665393:ATTA:A
          Gene:
          MELK (Varview)
          Functional Consequence:
          coding_sequence_variant,inframe_deletion,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0.000071/1 (ALFA)
          -=0.000007/1 (GnomAD)
          HGVS:
          NC_000009.12:g.36665395_36665397del, NC_000009.11:g.36665392_36665394del, NM_014791.4:c.1222_1224del, NM_014791.3:c.1222_1224del, XM_011518076.3:c.1222_1224del, XM_011518076.2:c.1222_1224del, XM_011518076.1:c.1222_1224del, XM_011518082.3:c.1126_1128del, XM_011518082.2:c.1126_1128del, XM_011518082.1:c.1126_1128del, XM_011518081.3:c.1126_1128del, XM_011518081.2:c.1126_1128del, XM_011518081.1:c.1126_1128del, XM_011518077.2:c.1222_1224del, XM_011518077.1:c.1222_1224del, NR_046337.2:n.1410_1412del, NR_046337.1:n.1443_1445del, NM_001256689.2:c.1126_1128del, NM_001256689.1:c.1126_1128del, NM_001256685.2:c.1099_1101del, NM_001256685.1:c.1099_1101del, NM_001256687.2:c.1078_1080del, NM_001256687.1:c.1078_1080del, XM_011518085.2:c.973_975del, XM_011518085.1:c.973_975del, NM_001256693.2:c.640_642del, NM_001256693.1:c.640_642del, NM_001256690.2:c.1009_1011del, NM_001256690.1:c.1009_1011del, NM_001256688.2:c.1009_1011del, NM_001256688.1:c.1009_1011del, NM_001256691.2:c.982_984del, NM_001256691.1:c.982_984del, NM_001256692.2:c.829_831del, NM_001256692.1:c.829_831del, XM_047424166.1:c.1222_1224del, XM_047424168.1:c.1135_1137del, XM_047424171.1:c.1099_1101del, XM_047424173.1:c.1078_1080del, XM_047424177.1:c.1039_1041del, XM_047424169.1:c.1135_1137del, XM_047424182.1:c.1003_1005del, XM_047424180.1:c.1012_1014del, XM_047424187.1:c.982_984del, XM_047424185.1:c.991_993del, XM_047424170.1:c.1099_1101del, XM_047424172.1:c.1078_1080del, XM_047424192.1:c.955_957del, XM_011518080.1:c.1135_1137del, XM_047424176.1:c.1039_1041del, XM_047424195.1:c.916_918del, XM_047424183.1:c.1003_1005del, XM_047424179.1:c.1012_1014del, XM_047424188.1:c.982_984del, XM_047424186.1:c.991_993del, XM_047424204.1:c.859_861del, XM_047424174.1:c.1039_1041del, XM_047424191.1:c.955_957del, XM_047424181.1:c.1003_1005del, XM_047424178.1:c.1012_1014del, XM_047424193.1:c.916_918del, XM_047424184.1:c.991_993del, XM_047424197.1:c.895_897del, XM_047424189.1:c.955_957del, XM_047424198.1:c.886_888del, XM_047424203.1:c.859_861del, XM_047424200.1:c.868_870del, XM_047424194.1:c.916_918del, XM_047424205.1:c.850_852del, XM_047424196.1:c.895_897del, XM_047424202.1:c.859_861del, XM_047424199.1:c.868_870del, XM_047424206.1:c.772_774del, NP_055606.1:p.Leu408del, XP_011516378.1:p.Leu408del, XP_011516384.1:p.Leu376del, XP_011516383.1:p.Leu376del, XP_011516379.1:p.Leu408del, NP_001243618.1:p.Leu376del, NP_001243614.1:p.Leu367del, NP_001243616.1:p.Leu360del, XP_011516387.1:p.Leu325del, NP_001243622.1:p.Leu214del, NP_001243619.1:p.Leu337del, NP_001243617.1:p.Leu337del, NP_001243620.1:p.Leu328del, NP_001243621.1:p.Leu277del, XP_047280122.1:p.Leu408del, XP_047280124.1:p.Leu379del, XP_047280127.1:p.Leu367del, XP_047280129.1:p.Leu360del, XP_047280133.1:p.Leu347del, XP_047280125.1:p.Leu379del, XP_047280138.1:p.Leu335del, XP_047280136.1:p.Leu338del, XP_047280143.1:p.Leu328del, XP_047280141.1:p.Leu331del, XP_047280126.1:p.Leu367del, XP_047280128.1:p.Leu360del, XP_047280148.1:p.Leu319del, XP_011516382.1:p.Leu379del, XP_047280132.1:p.Leu347del, XP_047280151.1:p.Leu306del, XP_047280139.1:p.Leu335del, XP_047280135.1:p.Leu338del, XP_047280144.1:p.Leu328del, XP_047280142.1:p.Leu331del, XP_047280160.1:p.Leu287del, XP_047280130.1:p.Leu347del, XP_047280147.1:p.Leu319del, XP_047280137.1:p.Leu335del, XP_047280134.1:p.Leu338del, XP_047280149.1:p.Leu306del, XP_047280140.1:p.Leu331del, XP_047280153.1:p.Leu299del, XP_047280145.1:p.Leu319del, XP_047280154.1:p.Leu296del, XP_047280159.1:p.Leu287del, XP_047280156.1:p.Leu290del, XP_047280150.1:p.Leu306del, XP_047280161.1:p.Leu284del, XP_047280152.1:p.Leu299del, XP_047280158.1:p.Leu287del, XP_047280155.1:p.Leu290del, XP_047280162.1:p.Leu258del

          5.

          rs1484463569 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C,G [Show Flanks]
            Chromosome:
            9:36581711 (GRCh38)
            9:36581708 (GRCh37)
            Canonical SPDI:
            NC_000009.12:36581710:T:C,NC_000009.12:36581710:T:G
            Gene:
            MELK (Varview)
            Functional Consequence:
            intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,stop_gained
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000009.12:g.36581711T>C, NC_000009.12:g.36581711T>G, NC_000009.11:g.36581708T>C, NC_000009.11:g.36581708T>G, NM_014791.4:c.30T>C, NM_014791.4:c.30T>G, NM_014791.3:c.30T>C, NM_014791.3:c.30T>G, XM_011518076.3:c.30T>C, XM_011518076.3:c.30T>G, XM_011518076.2:c.30T>C, XM_011518076.2:c.30T>G, XM_011518076.1:c.30T>C, XM_011518076.1:c.30T>G, XM_011518082.3:c.20T>C, XM_011518082.3:c.20T>G, XM_011518082.2:c.20T>C, XM_011518082.2:c.20T>G, XM_011518082.1:c.20T>C, XM_011518082.1:c.20T>G, XM_011518081.3:c.20T>C, XM_011518081.3:c.20T>G, XM_011518081.2:c.20T>C, XM_011518081.2:c.20T>G, XM_011518081.1:c.20T>C, XM_011518081.1:c.20T>G, XM_011518077.2:c.30T>C, XM_011518077.2:c.30T>G, XM_011518077.1:c.30T>C, XM_011518077.1:c.30T>G, NR_046337.2:n.181T>C, NR_046337.2:n.181T>G, NR_046337.1:n.214T>C, NR_046337.1:n.214T>G, NM_001256689.2:c.20T>C, NM_001256689.2:c.20T>G, NM_001256689.1:c.20T>C, NM_001256689.1:c.20T>G, NM_001256685.2:c.30T>C, NM_001256685.2:c.30T>G, NM_001256685.1:c.30T>C, NM_001256685.1:c.30T>G, NM_001256687.2:c.30T>C, NM_001256687.2:c.30T>G, NM_001256687.1:c.30T>C, NM_001256687.1:c.30T>G, NM_001256690.2:c.20T>C, NM_001256690.2:c.20T>G, NM_001256690.1:c.20T>C, NM_001256690.1:c.20T>G, NM_001256688.2:c.30T>C, NM_001256688.2:c.30T>G, NM_001256688.1:c.30T>C, NM_001256688.1:c.30T>G, NM_001256691.2:c.20T>C, NM_001256691.2:c.20T>G, NM_001256691.1:c.20T>C, NM_001256691.1:c.20T>G, XM_047424166.1:c.30T>C, XM_047424166.1:c.30T>G, XM_047424168.1:c.30T>C, XM_047424168.1:c.30T>G, XM_047424171.1:c.30T>C, XM_047424171.1:c.30T>G, XM_047424173.1:c.30T>C, XM_047424173.1:c.30T>G, XM_047424177.1:c.20T>C, XM_047424177.1:c.20T>G, XM_047424169.1:c.30T>C, XM_047424169.1:c.30T>G, XM_047424182.1:c.20T>C, XM_047424182.1:c.20T>G, XM_047424180.1:c.30T>C, XM_047424180.1:c.30T>G, XM_047424187.1:c.20T>C, XM_047424187.1:c.20T>G, XM_047424185.1:c.30T>C, XM_047424185.1:c.30T>G, XM_047424170.1:c.30T>C, XM_047424170.1:c.30T>G, XM_047424172.1:c.30T>C, XM_047424172.1:c.30T>G, XM_047424192.1:c.30T>C, XM_047424192.1:c.30T>G, XM_011518080.1:c.30T>C, XM_011518080.1:c.30T>G, XM_047424176.1:c.20T>C, XM_047424176.1:c.20T>G, XM_047424195.1:c.20T>C, XM_047424195.1:c.20T>G, XM_047424183.1:c.20T>C, XM_047424183.1:c.20T>G, XM_047424179.1:c.30T>C, XM_047424179.1:c.30T>G, XM_047424188.1:c.20T>C, XM_047424188.1:c.20T>G, XM_047424186.1:c.30T>C, XM_047424186.1:c.30T>G, XM_047424204.1:c.20T>C, XM_047424204.1:c.20T>G, XM_047424174.1:c.20T>C, XM_047424174.1:c.20T>G, XM_047424191.1:c.30T>C, XM_047424191.1:c.30T>G, XM_047424181.1:c.20T>C, XM_047424181.1:c.20T>G, XM_047424178.1:c.30T>C, XM_047424178.1:c.30T>G, XM_047424193.1:c.20T>C, XM_047424193.1:c.20T>G, XM_047424184.1:c.30T>C, XM_047424184.1:c.30T>G, XM_047424197.1:c.20T>C, XM_047424197.1:c.20T>G, XM_047424189.1:c.30T>C, XM_047424189.1:c.30T>G, XM_047424203.1:c.20T>C, XM_047424203.1:c.20T>G, XM_047424200.1:c.30T>C, XM_047424200.1:c.30T>G, XM_047424194.1:c.20T>C, XM_047424194.1:c.20T>G, XM_047424196.1:c.20T>C, XM_047424196.1:c.20T>G, XM_047424202.1:c.20T>C, XM_047424202.1:c.20T>G, XM_047424199.1:c.30T>C, XM_047424199.1:c.30T>G, XM_047424206.1:c.20T>C, XM_047424206.1:c.20T>G, NP_055606.1:p.Tyr10Ter, XP_011516378.1:p.Tyr10Ter, XP_011516384.1:p.Ile7Thr, XP_011516384.1:p.Ile7Ser, XP_011516383.1:p.Ile7Thr, XP_011516383.1:p.Ile7Ser, XP_011516379.1:p.Tyr10Ter, NP_001243618.1:p.Ile7Thr, NP_001243618.1:p.Ile7Ser, NP_001243614.1:p.Tyr10Ter, NP_001243616.1:p.Tyr10Ter, NP_001243619.1:p.Ile7Thr, NP_001243619.1:p.Ile7Ser, NP_001243617.1:p.Tyr10Ter, NP_001243620.1:p.Ile7Thr, NP_001243620.1:p.Ile7Ser, XP_047280122.1:p.Tyr10Ter, XP_047280124.1:p.Tyr10Ter, XP_047280127.1:p.Tyr10Ter, XP_047280129.1:p.Tyr10Ter, XP_047280133.1:p.Ile7Thr, XP_047280133.1:p.Ile7Ser, XP_047280125.1:p.Tyr10Ter, XP_047280138.1:p.Ile7Thr, XP_047280138.1:p.Ile7Ser, XP_047280136.1:p.Tyr10Ter, XP_047280143.1:p.Ile7Thr, XP_047280143.1:p.Ile7Ser, XP_047280141.1:p.Tyr10Ter, XP_047280126.1:p.Tyr10Ter, XP_047280128.1:p.Tyr10Ter, XP_047280148.1:p.Tyr10Ter, XP_011516382.1:p.Tyr10Ter, XP_047280132.1:p.Ile7Thr, XP_047280132.1:p.Ile7Ser, XP_047280151.1:p.Ile7Thr, XP_047280151.1:p.Ile7Ser, XP_047280139.1:p.Ile7Thr, XP_047280139.1:p.Ile7Ser, XP_047280135.1:p.Tyr10Ter, XP_047280144.1:p.Ile7Thr, XP_047280144.1:p.Ile7Ser, XP_047280142.1:p.Tyr10Ter, XP_047280160.1:p.Ile7Thr, XP_047280160.1:p.Ile7Ser, XP_047280130.1:p.Ile7Thr, XP_047280130.1:p.Ile7Ser, XP_047280147.1:p.Tyr10Ter, XP_047280137.1:p.Ile7Thr, XP_047280137.1:p.Ile7Ser, XP_047280134.1:p.Tyr10Ter, XP_047280149.1:p.Ile7Thr, XP_047280149.1:p.Ile7Ser, XP_047280140.1:p.Tyr10Ter, XP_047280153.1:p.Ile7Thr, XP_047280153.1:p.Ile7Ser, XP_047280145.1:p.Tyr10Ter, XP_047280159.1:p.Ile7Thr, XP_047280159.1:p.Ile7Ser, XP_047280156.1:p.Tyr10Ter, XP_047280150.1:p.Ile7Thr, XP_047280150.1:p.Ile7Ser, XP_047280152.1:p.Ile7Thr, XP_047280152.1:p.Ile7Ser, XP_047280158.1:p.Ile7Thr, XP_047280158.1:p.Ile7Ser, XP_047280155.1:p.Tyr10Ter, XP_047280162.1:p.Ile7Thr, XP_047280162.1:p.Ile7Ser

            6.

            rs1481302828 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              9:36677192 (GRCh38)
              9:36677189 (GRCh37)
              Canonical SPDI:
              NC_000009.12:36677191:T:C
              Gene:
              MELK (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000071/1 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              NC_000009.12:g.36677192T>C, NC_000009.11:g.36677189T>C, NM_014791.4:c.1811T>C, NM_014791.3:c.1811T>C, XM_011518076.3:c.1811T>C, XM_011518076.2:c.1811T>C, XM_011518076.1:c.1811T>C, XM_011518082.3:c.1715T>C, XM_011518082.2:c.1715T>C, XM_011518082.1:c.1715T>C, XM_011518081.3:c.1715T>C, XM_011518081.2:c.1715T>C, XM_011518081.1:c.1715T>C, XM_011518077.2:c.1811T>C, XM_011518077.1:c.1811T>C, NR_046337.2:n.1999T>C, NR_046337.1:n.2032T>C, NM_001256689.2:c.1715T>C, NM_001256689.1:c.1715T>C, NM_001256685.2:c.1688T>C, NM_001256685.1:c.1688T>C, NM_001256687.2:c.1667T>C, NM_001256687.1:c.1667T>C, XM_011518085.2:c.1562T>C, XM_011518085.1:c.1562T>C, NM_001256693.2:c.1229T>C, NM_001256693.1:c.1229T>C, NM_001256690.2:c.1598T>C, NM_001256690.1:c.1598T>C, NM_001256688.2:c.1598T>C, NM_001256688.1:c.1598T>C, NM_001256691.2:c.1571T>C, NM_001256691.1:c.1571T>C, NM_001256692.2:c.1418T>C, NM_001256692.1:c.1418T>C, XM_047424166.1:c.1811T>C, XM_047424168.1:c.1724T>C, XM_047424171.1:c.1688T>C, XM_047424173.1:c.1667T>C, XM_047424177.1:c.1628T>C, XM_047424169.1:c.1724T>C, XM_047424182.1:c.1592T>C, XM_047424180.1:c.1601T>C, XM_047424187.1:c.1571T>C, XM_047424185.1:c.1580T>C, XM_047424170.1:c.1688T>C, XM_047424172.1:c.1667T>C, XM_047424192.1:c.1544T>C, XM_011518080.1:c.1724T>C, XM_047424176.1:c.1628T>C, XM_047424195.1:c.1505T>C, XM_047424183.1:c.1592T>C, XM_047424179.1:c.1601T>C, XM_047424188.1:c.1571T>C, XM_047424186.1:c.1580T>C, XM_047424204.1:c.1448T>C, XM_047424174.1:c.1628T>C, XM_047424191.1:c.1544T>C, XM_047424181.1:c.1592T>C, XM_047424178.1:c.1601T>C, XM_047424193.1:c.1505T>C, XM_047424184.1:c.1580T>C, XM_047424197.1:c.1484T>C, XM_047424189.1:c.1544T>C, XM_047424198.1:c.1475T>C, XM_047424203.1:c.1448T>C, XM_047424200.1:c.1457T>C, XM_047424194.1:c.1505T>C, XM_047424205.1:c.1439T>C, XM_047424196.1:c.1484T>C, XM_047424202.1:c.1448T>C, XM_047424199.1:c.1457T>C, XM_047424206.1:c.1361T>C, NP_055606.1:p.Phe604Ser, XP_011516378.1:p.Phe604Ser, XP_011516384.1:p.Phe572Ser, XP_011516383.1:p.Phe572Ser, XP_011516379.1:p.Phe604Ser, NP_001243618.1:p.Phe572Ser, NP_001243614.1:p.Phe563Ser, NP_001243616.1:p.Phe556Ser, XP_011516387.1:p.Phe521Ser, NP_001243622.1:p.Phe410Ser, NP_001243619.1:p.Phe533Ser, NP_001243617.1:p.Phe533Ser, NP_001243620.1:p.Phe524Ser, NP_001243621.1:p.Phe473Ser, XP_047280122.1:p.Phe604Ser, XP_047280124.1:p.Phe575Ser, XP_047280127.1:p.Phe563Ser, XP_047280129.1:p.Phe556Ser, XP_047280133.1:p.Phe543Ser, XP_047280125.1:p.Phe575Ser, XP_047280138.1:p.Phe531Ser, XP_047280136.1:p.Phe534Ser, XP_047280143.1:p.Phe524Ser, XP_047280141.1:p.Phe527Ser, XP_047280126.1:p.Phe563Ser, XP_047280128.1:p.Phe556Ser, XP_047280148.1:p.Phe515Ser, XP_011516382.1:p.Phe575Ser, XP_047280132.1:p.Phe543Ser, XP_047280151.1:p.Phe502Ser, XP_047280139.1:p.Phe531Ser, XP_047280135.1:p.Phe534Ser, XP_047280144.1:p.Phe524Ser, XP_047280142.1:p.Phe527Ser, XP_047280160.1:p.Phe483Ser, XP_047280130.1:p.Phe543Ser, XP_047280147.1:p.Phe515Ser, XP_047280137.1:p.Phe531Ser, XP_047280134.1:p.Phe534Ser, XP_047280149.1:p.Phe502Ser, XP_047280140.1:p.Phe527Ser, XP_047280153.1:p.Phe495Ser, XP_047280145.1:p.Phe515Ser, XP_047280154.1:p.Phe492Ser, XP_047280159.1:p.Phe483Ser, XP_047280156.1:p.Phe486Ser, XP_047280150.1:p.Phe502Ser, XP_047280161.1:p.Phe480Ser, XP_047280152.1:p.Phe495Ser, XP_047280158.1:p.Phe483Ser, XP_047280155.1:p.Phe486Ser, XP_047280162.1:p.Phe454Ser

              7.

              rs1480331304 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                A>- [Show Flanks]
                Chromosome:
                9:36651756 (GRCh38)
                9:36651753 (GRCh37)
                Canonical SPDI:
                NC_000009.12:36651755:A:
                Gene:
                MELK (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                -=0.000007/1 (GnomAD)
                HGVS:
                NC_000009.12:g.36651756del, NC_000009.11:g.36651753del, NM_014791.4:c.932del, NM_014791.3:c.932del, XM_011518076.3:c.932del, XM_011518076.2:c.932del, XM_011518076.1:c.932del, XM_011518082.3:c.836del, XM_011518082.2:c.836del, XM_011518082.1:c.836del, XM_011518081.3:c.836del, XM_011518081.2:c.836del, XM_011518081.1:c.836del, XM_011518077.2:c.932del, XM_011518077.1:c.932del, NR_046337.2:n.1120del, NR_046337.1:n.1153del, NM_001256689.2:c.836del, NM_001256689.1:c.836del, NM_001256685.2:c.932del, NM_001256685.1:c.932del, NM_001256687.2:c.788del, NM_001256687.1:c.788del, XM_011518085.2:c.683del, XM_011518085.1:c.683del, NM_001256693.2:c.350del, NM_001256693.1:c.350del, NM_001256690.2:c.719del, NM_001256690.1:c.719del, NM_001256688.2:c.719del, NM_001256688.1:c.719del, NM_001256691.2:c.692del, NM_001256691.1:c.692del, NM_001256692.2:c.539del, NM_001256692.1:c.539del, XM_047424166.1:c.932del, XM_047424168.1:c.845del, XM_047424171.1:c.932del, XM_047424173.1:c.788del, XM_047424177.1:c.749del, XM_047424169.1:c.845del, XM_047424182.1:c.836del, XM_047424180.1:c.845del, XM_047424187.1:c.692del, XM_047424185.1:c.701del, XM_047424170.1:c.932del, XM_047424172.1:c.788del, XM_047424192.1:c.788del, XM_011518080.1:c.845del, XM_047424176.1:c.749del, XM_047424195.1:c.749del, XM_047424183.1:c.836del, XM_047424179.1:c.845del, XM_047424188.1:c.692del, XM_047424186.1:c.701del, XM_047424204.1:c.692del, XM_047424174.1:c.749del, XM_047424191.1:c.788del, XM_047424181.1:c.836del, XM_047424178.1:c.845del, XM_047424193.1:c.749del, XM_047424184.1:c.701del, XM_047424197.1:c.605del, XM_047424189.1:c.788del, XM_047424198.1:c.596del, XM_047424203.1:c.692del, XM_047424200.1:c.701del, XM_047424194.1:c.749del, XM_047424205.1:c.683del, XM_047424196.1:c.605del, XM_047424202.1:c.692del, XM_047424199.1:c.701del, XM_047424206.1:c.605del, NP_055606.1:p.Asp311fs, XP_011516378.1:p.Asp311fs, XP_011516384.1:p.Asp279fs, XP_011516383.1:p.Asp279fs, XP_011516379.1:p.Asp311fs, NP_001243618.1:p.Asp279fs, NP_001243614.1:p.Asp311fs, NP_001243616.1:p.Asp263fs, XP_011516387.1:p.Asp228fs, NP_001243622.1:p.Asp117fs, NP_001243619.1:p.Asp240fs, NP_001243617.1:p.Asp240fs, NP_001243620.1:p.Asp231fs, NP_001243621.1:p.Asp180fs, XP_047280122.1:p.Asp311fs, XP_047280124.1:p.Asp282fs, XP_047280127.1:p.Asp311fs, XP_047280129.1:p.Asp263fs, XP_047280133.1:p.Asp250fs, XP_047280125.1:p.Asp282fs, XP_047280138.1:p.Asp279fs, XP_047280136.1:p.Asp282fs, XP_047280143.1:p.Asp231fs, XP_047280141.1:p.Asp234fs, XP_047280126.1:p.Asp311fs, XP_047280128.1:p.Asp263fs, XP_047280148.1:p.Asp263fs, XP_011516382.1:p.Asp282fs, XP_047280132.1:p.Asp250fs, XP_047280151.1:p.Asp250fs, XP_047280139.1:p.Asp279fs, XP_047280135.1:p.Asp282fs, XP_047280144.1:p.Asp231fs, XP_047280142.1:p.Asp234fs, XP_047280160.1:p.Asp231fs, XP_047280130.1:p.Asp250fs, XP_047280147.1:p.Asp263fs, XP_047280137.1:p.Asp279fs, XP_047280134.1:p.Asp282fs, XP_047280149.1:p.Asp250fs, XP_047280140.1:p.Asp234fs, XP_047280153.1:p.Asp202fs, XP_047280145.1:p.Asp263fs, XP_047280154.1:p.Asp199fs, XP_047280159.1:p.Asp231fs, XP_047280156.1:p.Asp234fs, XP_047280150.1:p.Asp250fs, XP_047280161.1:p.Asp228fs, XP_047280152.1:p.Asp202fs, XP_047280158.1:p.Asp231fs, XP_047280155.1:p.Asp234fs, XP_047280162.1:p.Asp202fs

                8.

                rs1478388216 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  9:36671135 (GRCh38)
                  9:36671132 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:36671134:G:A
                  Gene:
                  MELK (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000009.12:g.36671135G>A, NC_000009.11:g.36671132G>A, NM_014791.4:c.1643G>A, NM_014791.3:c.1643G>A, XM_011518076.3:c.1643G>A, XM_011518076.2:c.1643G>A, XM_011518076.1:c.1643G>A, XM_011518082.3:c.1547G>A, XM_011518082.2:c.1547G>A, XM_011518082.1:c.1547G>A, XM_011518081.3:c.1547G>A, XM_011518081.2:c.1547G>A, XM_011518081.1:c.1547G>A, XM_011518077.2:c.1643G>A, XM_011518077.1:c.1643G>A, NR_046337.2:n.1831G>A, NR_046337.1:n.1864G>A, NM_001256689.2:c.1547G>A, NM_001256689.1:c.1547G>A, NM_001256685.2:c.1520G>A, NM_001256685.1:c.1520G>A, NM_001256687.2:c.1499G>A, NM_001256687.1:c.1499G>A, XM_011518085.2:c.1394G>A, XM_011518085.1:c.1394G>A, NM_001256693.2:c.1061G>A, NM_001256693.1:c.1061G>A, NM_001256690.2:c.1430G>A, NM_001256690.1:c.1430G>A, NM_001256688.2:c.1430G>A, NM_001256688.1:c.1430G>A, NM_001256691.2:c.1403G>A, NM_001256691.1:c.1403G>A, NM_001256692.2:c.1250G>A, NM_001256692.1:c.1250G>A, XM_047424166.1:c.1643G>A, XM_047424168.1:c.1556G>A, XM_047424171.1:c.1520G>A, XM_047424173.1:c.1499G>A, XM_047424177.1:c.1460G>A, XM_047424169.1:c.1556G>A, XM_047424182.1:c.1424G>A, XM_047424180.1:c.1433G>A, XM_047424187.1:c.1403G>A, XM_047424185.1:c.1412G>A, XM_047424170.1:c.1520G>A, XM_047424172.1:c.1499G>A, XM_047424192.1:c.1376G>A, XM_011518080.1:c.1556G>A, XM_047424176.1:c.1460G>A, XM_047424195.1:c.1337G>A, XM_047424183.1:c.1424G>A, XM_047424179.1:c.1433G>A, XM_047424188.1:c.1403G>A, XM_047424186.1:c.1412G>A, XM_047424204.1:c.1280G>A, XM_047424174.1:c.1460G>A, XM_047424191.1:c.1376G>A, XM_047424181.1:c.1424G>A, XM_047424178.1:c.1433G>A, XM_047424193.1:c.1337G>A, XM_047424184.1:c.1412G>A, XM_047424197.1:c.1316G>A, XM_047424189.1:c.1376G>A, XM_047424198.1:c.1307G>A, XM_047424203.1:c.1280G>A, XM_047424200.1:c.1289G>A, XM_047424194.1:c.1337G>A, XM_047424205.1:c.1271G>A, XM_047424196.1:c.1316G>A, XM_047424202.1:c.1280G>A, XM_047424199.1:c.1289G>A, XM_047424206.1:c.1193G>A, NP_055606.1:p.Gly548Asp, XP_011516378.1:p.Gly548Asp, XP_011516384.1:p.Gly516Asp, XP_011516383.1:p.Gly516Asp, XP_011516379.1:p.Gly548Asp, NP_001243618.1:p.Gly516Asp, NP_001243614.1:p.Gly507Asp, NP_001243616.1:p.Gly500Asp, XP_011516387.1:p.Gly465Asp, NP_001243622.1:p.Gly354Asp, NP_001243619.1:p.Gly477Asp, NP_001243617.1:p.Gly477Asp, NP_001243620.1:p.Gly468Asp, NP_001243621.1:p.Gly417Asp, XP_047280122.1:p.Gly548Asp, XP_047280124.1:p.Gly519Asp, XP_047280127.1:p.Gly507Asp, XP_047280129.1:p.Gly500Asp, XP_047280133.1:p.Gly487Asp, XP_047280125.1:p.Gly519Asp, XP_047280138.1:p.Gly475Asp, XP_047280136.1:p.Gly478Asp, XP_047280143.1:p.Gly468Asp, XP_047280141.1:p.Gly471Asp, XP_047280126.1:p.Gly507Asp, XP_047280128.1:p.Gly500Asp, XP_047280148.1:p.Gly459Asp, XP_011516382.1:p.Gly519Asp, XP_047280132.1:p.Gly487Asp, XP_047280151.1:p.Gly446Asp, XP_047280139.1:p.Gly475Asp, XP_047280135.1:p.Gly478Asp, XP_047280144.1:p.Gly468Asp, XP_047280142.1:p.Gly471Asp, XP_047280160.1:p.Gly427Asp, XP_047280130.1:p.Gly487Asp, XP_047280147.1:p.Gly459Asp, XP_047280137.1:p.Gly475Asp, XP_047280134.1:p.Gly478Asp, XP_047280149.1:p.Gly446Asp, XP_047280140.1:p.Gly471Asp, XP_047280153.1:p.Gly439Asp, XP_047280145.1:p.Gly459Asp, XP_047280154.1:p.Gly436Asp, XP_047280159.1:p.Gly427Asp, XP_047280156.1:p.Gly430Asp, XP_047280150.1:p.Gly446Asp, XP_047280161.1:p.Gly424Asp, XP_047280152.1:p.Gly439Asp, XP_047280158.1:p.Gly427Asp, XP_047280155.1:p.Gly430Asp, XP_047280162.1:p.Gly398Asp

                  9.

                  rs1478317124 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->ATA [Show Flanks]
                    Chromosome:
                    9:36657298 (GRCh38)
                    9:36657296 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:36657298:TAATA:TAATAATA
                    Gene:
                    MELK (Varview)
                    Functional Consequence:
                    coding_sequence_variant,inframe_insertion,non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency
                    MAF:
                    TAA=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000009.12:g.36657301_36657303dup, NC_000009.11:g.36657298_36657300dup, NM_014791.4:c.1114_1116dup, NM_014791.3:c.1114_1116dup, XM_011518076.3:c.1114_1116dup, XM_011518076.2:c.1114_1116dup, XM_011518076.1:c.1114_1116dup, XM_011518082.3:c.1018_1020dup, XM_011518082.2:c.1018_1020dup, XM_011518082.1:c.1018_1020dup, XM_011518081.3:c.1018_1020dup, XM_011518081.2:c.1018_1020dup, XM_011518081.1:c.1018_1020dup, XM_011518077.2:c.1114_1116dup, XM_011518077.1:c.1114_1116dup, NR_046337.2:n.1302_1304dup, NR_046337.1:n.1335_1337dup, NM_001256689.2:c.1018_1020dup, NM_001256689.1:c.1018_1020dup, NM_001256687.2:c.970_972dup, NM_001256687.1:c.970_972dup, XM_011518085.2:c.865_867dup, XM_011518085.1:c.865_867dup, NM_001256693.2:c.532_534dup, NM_001256693.1:c.532_534dup, NM_001256690.2:c.901_903dup, NM_001256690.1:c.901_903dup, NM_001256688.2:c.901_903dup, NM_001256688.1:c.901_903dup, NM_001256691.2:c.874_876dup, NM_001256691.1:c.874_876dup, NM_001256692.2:c.721_723dup, NM_001256692.1:c.721_723dup, XM_047424166.1:c.1114_1116dup, XM_047424168.1:c.1027_1029dup, XM_047424173.1:c.970_972dup, XM_047424177.1:c.931_933dup, XM_047424169.1:c.1027_1029dup, XM_047424187.1:c.874_876dup, XM_047424185.1:c.883_885dup, XM_047424172.1:c.970_972dup, XM_011518080.1:c.1027_1029dup, XM_047424176.1:c.931_933dup, XM_047424188.1:c.874_876dup, XM_047424186.1:c.883_885dup, XM_047424174.1:c.931_933dup, XM_047424184.1:c.883_885dup, XM_047424197.1:c.787_789dup, XM_047424198.1:c.778_780dup, XM_047424196.1:c.787_789dup, NP_055606.1:p.Ile372dup, XP_011516378.1:p.Ile372dup, XP_011516384.1:p.Ile340dup, XP_011516383.1:p.Ile340dup, XP_011516379.1:p.Ile372dup, NP_001243618.1:p.Ile340dup, NP_001243616.1:p.Ile324dup, XP_011516387.1:p.Ile289dup, NP_001243622.1:p.Ile178dup, NP_001243619.1:p.Ile301dup, NP_001243617.1:p.Ile301dup, NP_001243620.1:p.Ile292dup, NP_001243621.1:p.Ile241dup, XP_047280122.1:p.Ile372dup, XP_047280124.1:p.Ile343dup, XP_047280129.1:p.Ile324dup, XP_047280133.1:p.Ile311dup, XP_047280125.1:p.Ile343dup, XP_047280143.1:p.Ile292dup, XP_047280141.1:p.Ile295dup, XP_047280128.1:p.Ile324dup, XP_011516382.1:p.Ile343dup, XP_047280132.1:p.Ile311dup, XP_047280144.1:p.Ile292dup, XP_047280142.1:p.Ile295dup, XP_047280130.1:p.Ile311dup, XP_047280140.1:p.Ile295dup, XP_047280153.1:p.Ile263dup, XP_047280154.1:p.Ile260dup, XP_047280152.1:p.Ile263dup

                    10.

                    rs1474519897 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      9:36657275 (GRCh38)
                      9:36657272 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:36657274:G:A,NC_000009.12:36657274:G:C
                      Gene:
                      MELK (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000009.12:g.36657275G>A, NC_000009.12:g.36657275G>C, NC_000009.11:g.36657272G>A, NC_000009.11:g.36657272G>C, NM_014791.4:c.1088G>A, NM_014791.4:c.1088G>C, NM_014791.3:c.1088G>A, NM_014791.3:c.1088G>C, XM_011518076.3:c.1088G>A, XM_011518076.3:c.1088G>C, XM_011518076.2:c.1088G>A, XM_011518076.2:c.1088G>C, XM_011518076.1:c.1088G>A, XM_011518076.1:c.1088G>C, XM_011518082.3:c.992G>A, XM_011518082.3:c.992G>C, XM_011518082.2:c.992G>A, XM_011518082.2:c.992G>C, XM_011518082.1:c.992G>A, XM_011518082.1:c.992G>C, XM_011518081.3:c.992G>A, XM_011518081.3:c.992G>C, XM_011518081.2:c.992G>A, XM_011518081.2:c.992G>C, XM_011518081.1:c.992G>A, XM_011518081.1:c.992G>C, XM_011518077.2:c.1088G>A, XM_011518077.2:c.1088G>C, XM_011518077.1:c.1088G>A, XM_011518077.1:c.1088G>C, NR_046337.2:n.1276G>A, NR_046337.2:n.1276G>C, NR_046337.1:n.1309G>A, NR_046337.1:n.1309G>C, NM_001256689.2:c.992G>A, NM_001256689.2:c.992G>C, NM_001256689.1:c.992G>A, NM_001256689.1:c.992G>C, NM_001256687.2:c.944G>A, NM_001256687.2:c.944G>C, NM_001256687.1:c.944G>A, NM_001256687.1:c.944G>C, XM_011518085.2:c.839G>A, XM_011518085.2:c.839G>C, XM_011518085.1:c.839G>A, XM_011518085.1:c.839G>C, NM_001256693.2:c.506G>A, NM_001256693.2:c.506G>C, NM_001256693.1:c.506G>A, NM_001256693.1:c.506G>C, NM_001256690.2:c.875G>A, NM_001256690.2:c.875G>C, NM_001256690.1:c.875G>A, NM_001256690.1:c.875G>C, NM_001256688.2:c.875G>A, NM_001256688.2:c.875G>C, NM_001256688.1:c.875G>A, NM_001256688.1:c.875G>C, NM_001256691.2:c.848G>A, NM_001256691.2:c.848G>C, NM_001256691.1:c.848G>A, NM_001256691.1:c.848G>C, NM_001256692.2:c.695G>A, NM_001256692.2:c.695G>C, NM_001256692.1:c.695G>A, NM_001256692.1:c.695G>C, XM_047424166.1:c.1088G>A, XM_047424166.1:c.1088G>C, XM_047424168.1:c.1001G>A, XM_047424168.1:c.1001G>C, XM_047424173.1:c.944G>A, XM_047424173.1:c.944G>C, XM_047424177.1:c.905G>A, XM_047424177.1:c.905G>C, XM_047424169.1:c.1001G>A, XM_047424169.1:c.1001G>C, XM_047424187.1:c.848G>A, XM_047424187.1:c.848G>C, XM_047424185.1:c.857G>A, XM_047424185.1:c.857G>C, XM_047424172.1:c.944G>A, XM_047424172.1:c.944G>C, XM_011518080.1:c.1001G>A, XM_011518080.1:c.1001G>C, XM_047424176.1:c.905G>A, XM_047424176.1:c.905G>C, XM_047424188.1:c.848G>A, XM_047424188.1:c.848G>C, XM_047424186.1:c.857G>A, XM_047424186.1:c.857G>C, XM_047424174.1:c.905G>A, XM_047424174.1:c.905G>C, XM_047424184.1:c.857G>A, XM_047424184.1:c.857G>C, XM_047424197.1:c.761G>A, XM_047424197.1:c.761G>C, XM_047424198.1:c.752G>A, XM_047424198.1:c.752G>C, XM_047424196.1:c.761G>A, XM_047424196.1:c.761G>C, NP_055606.1:p.Ser363Asn, NP_055606.1:p.Ser363Thr, XP_011516378.1:p.Ser363Asn, XP_011516378.1:p.Ser363Thr, XP_011516384.1:p.Ser331Asn, XP_011516384.1:p.Ser331Thr, XP_011516383.1:p.Ser331Asn, XP_011516383.1:p.Ser331Thr, XP_011516379.1:p.Ser363Asn, XP_011516379.1:p.Ser363Thr, NP_001243618.1:p.Ser331Asn, NP_001243618.1:p.Ser331Thr, NP_001243616.1:p.Ser315Asn, NP_001243616.1:p.Ser315Thr, XP_011516387.1:p.Ser280Asn, XP_011516387.1:p.Ser280Thr, NP_001243622.1:p.Ser169Asn, NP_001243622.1:p.Ser169Thr, NP_001243619.1:p.Ser292Asn, NP_001243619.1:p.Ser292Thr, NP_001243617.1:p.Ser292Asn, NP_001243617.1:p.Ser292Thr, NP_001243620.1:p.Ser283Asn, NP_001243620.1:p.Ser283Thr, NP_001243621.1:p.Ser232Asn, NP_001243621.1:p.Ser232Thr, XP_047280122.1:p.Ser363Asn, XP_047280122.1:p.Ser363Thr, XP_047280124.1:p.Ser334Asn, XP_047280124.1:p.Ser334Thr, XP_047280129.1:p.Ser315Asn, XP_047280129.1:p.Ser315Thr, XP_047280133.1:p.Ser302Asn, XP_047280133.1:p.Ser302Thr, XP_047280125.1:p.Ser334Asn, XP_047280125.1:p.Ser334Thr, XP_047280143.1:p.Ser283Asn, XP_047280143.1:p.Ser283Thr, XP_047280141.1:p.Ser286Asn, XP_047280141.1:p.Ser286Thr, XP_047280128.1:p.Ser315Asn, XP_047280128.1:p.Ser315Thr, XP_011516382.1:p.Ser334Asn, XP_011516382.1:p.Ser334Thr, XP_047280132.1:p.Ser302Asn, XP_047280132.1:p.Ser302Thr, XP_047280144.1:p.Ser283Asn, XP_047280144.1:p.Ser283Thr, XP_047280142.1:p.Ser286Asn, XP_047280142.1:p.Ser286Thr, XP_047280130.1:p.Ser302Asn, XP_047280130.1:p.Ser302Thr, XP_047280140.1:p.Ser286Asn, XP_047280140.1:p.Ser286Thr, XP_047280153.1:p.Ser254Asn, XP_047280153.1:p.Ser254Thr, XP_047280154.1:p.Ser251Asn, XP_047280154.1:p.Ser251Thr, XP_047280152.1:p.Ser254Asn, XP_047280152.1:p.Ser254Thr

                      11.

                      rs1472438544 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        9:36651866 (GRCh38)
                        9:36651863 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:36651865:A:G
                        Gene:
                        MELK (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000009.12:g.36651866A>G, NC_000009.11:g.36651863A>G, NM_014791.4:c.1042A>G, NM_014791.3:c.1042A>G, XM_011518076.3:c.1042A>G, XM_011518076.2:c.1042A>G, XM_011518076.1:c.1042A>G, XM_011518082.3:c.946A>G, XM_011518082.2:c.946A>G, XM_011518082.1:c.946A>G, XM_011518081.3:c.946A>G, XM_011518081.2:c.946A>G, XM_011518081.1:c.946A>G, XM_011518077.2:c.1042A>G, XM_011518077.1:c.1042A>G, NR_046337.2:n.1230A>G, NR_046337.1:n.1263A>G, NM_001256689.2:c.946A>G, NM_001256689.1:c.946A>G, NM_001256685.2:c.1042A>G, NM_001256685.1:c.1042A>G, NM_001256687.2:c.898A>G, NM_001256687.1:c.898A>G, XM_011518085.2:c.793A>G, XM_011518085.1:c.793A>G, NM_001256693.2:c.460A>G, NM_001256693.1:c.460A>G, NM_001256690.2:c.829A>G, NM_001256690.1:c.829A>G, NM_001256688.2:c.829A>G, NM_001256688.1:c.829A>G, NM_001256691.2:c.802A>G, NM_001256691.1:c.802A>G, NM_001256692.2:c.649A>G, NM_001256692.1:c.649A>G, XM_047424166.1:c.1042A>G, XM_047424168.1:c.955A>G, XM_047424171.1:c.1042A>G, XM_047424173.1:c.898A>G, XM_047424177.1:c.859A>G, XM_047424169.1:c.955A>G, XM_047424182.1:c.946A>G, XM_047424180.1:c.955A>G, XM_047424187.1:c.802A>G, XM_047424185.1:c.811A>G, XM_047424170.1:c.1042A>G, XM_047424172.1:c.898A>G, XM_047424192.1:c.898A>G, XM_011518080.1:c.955A>G, XM_047424176.1:c.859A>G, XM_047424195.1:c.859A>G, XM_047424183.1:c.946A>G, XM_047424179.1:c.955A>G, XM_047424188.1:c.802A>G, XM_047424186.1:c.811A>G, XM_047424204.1:c.802A>G, XM_047424174.1:c.859A>G, XM_047424191.1:c.898A>G, XM_047424181.1:c.946A>G, XM_047424178.1:c.955A>G, XM_047424193.1:c.859A>G, XM_047424184.1:c.811A>G, XM_047424197.1:c.715A>G, XM_047424189.1:c.898A>G, XM_047424198.1:c.706A>G, XM_047424203.1:c.802A>G, XM_047424200.1:c.811A>G, XM_047424194.1:c.859A>G, XM_047424205.1:c.793A>G, XM_047424196.1:c.715A>G, XM_047424202.1:c.802A>G, XM_047424199.1:c.811A>G, XM_047424206.1:c.715A>G, NP_055606.1:p.Thr348Ala, XP_011516378.1:p.Thr348Ala, XP_011516384.1:p.Thr316Ala, XP_011516383.1:p.Thr316Ala, XP_011516379.1:p.Thr348Ala, NP_001243618.1:p.Thr316Ala, NP_001243614.1:p.Thr348Ala, NP_001243616.1:p.Thr300Ala, XP_011516387.1:p.Thr265Ala, NP_001243622.1:p.Thr154Ala, NP_001243619.1:p.Thr277Ala, NP_001243617.1:p.Thr277Ala, NP_001243620.1:p.Thr268Ala, NP_001243621.1:p.Thr217Ala, XP_047280122.1:p.Thr348Ala, XP_047280124.1:p.Thr319Ala, XP_047280127.1:p.Thr348Ala, XP_047280129.1:p.Thr300Ala, XP_047280133.1:p.Thr287Ala, XP_047280125.1:p.Thr319Ala, XP_047280138.1:p.Thr316Ala, XP_047280136.1:p.Thr319Ala, XP_047280143.1:p.Thr268Ala, XP_047280141.1:p.Thr271Ala, XP_047280126.1:p.Thr348Ala, XP_047280128.1:p.Thr300Ala, XP_047280148.1:p.Thr300Ala, XP_011516382.1:p.Thr319Ala, XP_047280132.1:p.Thr287Ala, XP_047280151.1:p.Thr287Ala, XP_047280139.1:p.Thr316Ala, XP_047280135.1:p.Thr319Ala, XP_047280144.1:p.Thr268Ala, XP_047280142.1:p.Thr271Ala, XP_047280160.1:p.Thr268Ala, XP_047280130.1:p.Thr287Ala, XP_047280147.1:p.Thr300Ala, XP_047280137.1:p.Thr316Ala, XP_047280134.1:p.Thr319Ala, XP_047280149.1:p.Thr287Ala, XP_047280140.1:p.Thr271Ala, XP_047280153.1:p.Thr239Ala, XP_047280145.1:p.Thr300Ala, XP_047280154.1:p.Thr236Ala, XP_047280159.1:p.Thr268Ala, XP_047280156.1:p.Thr271Ala, XP_047280150.1:p.Thr287Ala, XP_047280161.1:p.Thr265Ala, XP_047280152.1:p.Thr239Ala, XP_047280158.1:p.Thr268Ala, XP_047280155.1:p.Thr271Ala, XP_047280162.1:p.Thr239Ala

                        12.

                        rs1469260656 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          9:36665460 (GRCh38)
                          9:36665457 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:36665459:T:C
                          Gene:
                          MELK (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          C=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000009.12:g.36665460T>C, NC_000009.11:g.36665457T>C, NM_014791.4:c.1287T>C, NM_014791.3:c.1287T>C, XM_011518076.3:c.1287T>C, XM_011518076.2:c.1287T>C, XM_011518076.1:c.1287T>C, XM_011518082.3:c.1191T>C, XM_011518082.2:c.1191T>C, XM_011518082.1:c.1191T>C, XM_011518081.3:c.1191T>C, XM_011518081.2:c.1191T>C, XM_011518081.1:c.1191T>C, XM_011518077.2:c.1287T>C, XM_011518077.1:c.1287T>C, NR_046337.2:n.1475T>C, NR_046337.1:n.1508T>C, NM_001256689.2:c.1191T>C, NM_001256689.1:c.1191T>C, NM_001256685.2:c.1164T>C, NM_001256685.1:c.1164T>C, NM_001256687.2:c.1143T>C, NM_001256687.1:c.1143T>C, XM_011518085.2:c.1038T>C, XM_011518085.1:c.1038T>C, NM_001256693.2:c.705T>C, NM_001256693.1:c.705T>C, NM_001256690.2:c.1074T>C, NM_001256690.1:c.1074T>C, NM_001256688.2:c.1074T>C, NM_001256688.1:c.1074T>C, NM_001256691.2:c.1047T>C, NM_001256691.1:c.1047T>C, NM_001256692.2:c.894T>C, NM_001256692.1:c.894T>C, XM_047424166.1:c.1287T>C, XM_047424168.1:c.1200T>C, XM_047424171.1:c.1164T>C, XM_047424173.1:c.1143T>C, XM_047424177.1:c.1104T>C, XM_047424169.1:c.1200T>C, XM_047424182.1:c.1068T>C, XM_047424180.1:c.1077T>C, XM_047424187.1:c.1047T>C, XM_047424185.1:c.1056T>C, XM_047424170.1:c.1164T>C, XM_047424172.1:c.1143T>C, XM_047424192.1:c.1020T>C, XM_011518080.1:c.1200T>C, XM_047424176.1:c.1104T>C, XM_047424195.1:c.981T>C, XM_047424183.1:c.1068T>C, XM_047424179.1:c.1077T>C, XM_047424188.1:c.1047T>C, XM_047424186.1:c.1056T>C, XM_047424204.1:c.924T>C, XM_047424174.1:c.1104T>C, XM_047424191.1:c.1020T>C, XM_047424181.1:c.1068T>C, XM_047424178.1:c.1077T>C, XM_047424193.1:c.981T>C, XM_047424184.1:c.1056T>C, XM_047424197.1:c.960T>C, XM_047424189.1:c.1020T>C, XM_047424198.1:c.951T>C, XM_047424203.1:c.924T>C, XM_047424200.1:c.933T>C, XM_047424194.1:c.981T>C, XM_047424205.1:c.915T>C, XM_047424196.1:c.960T>C, XM_047424202.1:c.924T>C, XM_047424199.1:c.933T>C, XM_047424206.1:c.837T>C

                          13.

                          rs1468499533 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            9:36630353 (GRCh38)
                            9:36630350 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:36630352:C:T
                            Gene:
                            MELK (Varview)
                            Functional Consequence:
                            coding_sequence_variant,non_coding_transcript_variant,stop_gained
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.0002/1 (ALFA)
                            HGVS:
                            NC_000009.12:g.36630353C>T, NC_000009.11:g.36630350C>T, NM_014791.4:c.721C>T, NM_014791.3:c.721C>T, XM_011518076.3:c.721C>T, XM_011518076.2:c.721C>T, XM_011518076.1:c.721C>T, XM_011518082.3:c.625C>T, XM_011518082.2:c.625C>T, XM_011518082.1:c.625C>T, XM_011518081.3:c.625C>T, XM_011518081.2:c.625C>T, XM_011518081.1:c.625C>T, XM_011518077.2:c.721C>T, XM_011518077.1:c.721C>T, NR_046337.2:n.909C>T, NR_046337.1:n.942C>T, NM_001256689.2:c.625C>T, NM_001256689.1:c.625C>T, NM_001256685.2:c.721C>T, NM_001256685.1:c.721C>T, NM_001256687.2:c.577C>T, NM_001256687.1:c.577C>T, XM_011518085.2:c.472C>T, XM_011518085.1:c.472C>T, NM_001256693.2:c.139C>T, NM_001256693.1:c.139C>T, NM_001256690.2:c.508C>T, NM_001256690.1:c.508C>T, NM_001256688.2:c.508C>T, NM_001256688.1:c.508C>T, NM_001256691.2:c.481C>T, NM_001256691.1:c.481C>T, NM_001256692.2:c.328C>T, NM_001256692.1:c.328C>T, XM_047424166.1:c.721C>T, XM_047424168.1:c.721C>T, XM_047424171.1:c.721C>T, XM_047424173.1:c.577C>T, XM_047424177.1:c.625C>T, XM_047424169.1:c.721C>T, XM_047424182.1:c.625C>T, XM_047424180.1:c.721C>T, XM_047424187.1:c.481C>T, XM_047424185.1:c.577C>T, XM_047424170.1:c.721C>T, XM_047424172.1:c.577C>T, XM_047424192.1:c.577C>T, XM_011518080.1:c.721C>T, XM_047424176.1:c.625C>T, XM_047424195.1:c.625C>T, XM_047424183.1:c.625C>T, XM_047424179.1:c.721C>T, XM_047424188.1:c.481C>T, XM_047424186.1:c.577C>T, XM_047424204.1:c.481C>T, XM_047424174.1:c.625C>T, XM_047424191.1:c.577C>T, XM_047424181.1:c.625C>T, XM_047424178.1:c.721C>T, XM_047424193.1:c.625C>T, XM_047424184.1:c.577C>T, XM_047424197.1:c.481C>T, XM_047424189.1:c.577C>T, XM_047424198.1:c.472C>T, XM_047424203.1:c.481C>T, XM_047424200.1:c.577C>T, XM_047424194.1:c.625C>T, XM_047424205.1:c.472C>T, XM_047424196.1:c.481C>T, XM_047424202.1:c.481C>T, XM_047424199.1:c.577C>T, XM_047424206.1:c.481C>T, NP_055606.1:p.Gln241Ter, XP_011516378.1:p.Gln241Ter, XP_011516384.1:p.Gln209Ter, XP_011516383.1:p.Gln209Ter, XP_011516379.1:p.Gln241Ter, NP_001243618.1:p.Gln209Ter, NP_001243614.1:p.Gln241Ter, NP_001243616.1:p.Gln193Ter, XP_011516387.1:p.Gln158Ter, NP_001243622.1:p.Gln47Ter, NP_001243619.1:p.Gln170Ter, NP_001243617.1:p.Gln170Ter, NP_001243620.1:p.Gln161Ter, NP_001243621.1:p.Gln110Ter, XP_047280122.1:p.Gln241Ter, XP_047280124.1:p.Gln241Ter, XP_047280127.1:p.Gln241Ter, XP_047280129.1:p.Gln193Ter, XP_047280133.1:p.Gln209Ter, XP_047280125.1:p.Gln241Ter, XP_047280138.1:p.Gln209Ter, XP_047280136.1:p.Gln241Ter, XP_047280143.1:p.Gln161Ter, XP_047280141.1:p.Gln193Ter, XP_047280126.1:p.Gln241Ter, XP_047280128.1:p.Gln193Ter, XP_047280148.1:p.Gln193Ter, XP_011516382.1:p.Gln241Ter, XP_047280132.1:p.Gln209Ter, XP_047280151.1:p.Gln209Ter, XP_047280139.1:p.Gln209Ter, XP_047280135.1:p.Gln241Ter, XP_047280144.1:p.Gln161Ter, XP_047280142.1:p.Gln193Ter, XP_047280160.1:p.Gln161Ter, XP_047280130.1:p.Gln209Ter, XP_047280147.1:p.Gln193Ter, XP_047280137.1:p.Gln209Ter, XP_047280134.1:p.Gln241Ter, XP_047280149.1:p.Gln209Ter, XP_047280140.1:p.Gln193Ter, XP_047280153.1:p.Gln161Ter, XP_047280145.1:p.Gln193Ter, XP_047280154.1:p.Gln158Ter, XP_047280159.1:p.Gln161Ter, XP_047280156.1:p.Gln193Ter, XP_047280150.1:p.Gln209Ter, XP_047280161.1:p.Gln158Ter, XP_047280152.1:p.Gln161Ter, XP_047280158.1:p.Gln161Ter, XP_047280155.1:p.Gln193Ter, XP_047280162.1:p.Gln161Ter

                            14.

                            rs1461466085 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              9:36633103 (GRCh38)
                              9:36633100 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:36633102:T:G
                              Gene:
                              MELK (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000009.12:g.36633103T>G, NC_000009.11:g.36633100T>G, NM_014791.4:c.737T>G, NM_014791.3:c.737T>G, XM_011518076.3:c.737T>G, XM_011518076.2:c.737T>G, XM_011518076.1:c.737T>G, XM_011518082.3:c.641T>G, XM_011518082.2:c.641T>G, XM_011518082.1:c.641T>G, XM_011518081.3:c.641T>G, XM_011518081.2:c.641T>G, XM_011518081.1:c.641T>G, XM_011518077.2:c.737T>G, XM_011518077.1:c.737T>G, NR_046337.2:n.925T>G, NR_046337.1:n.958T>G, NM_001256689.2:c.641T>G, NM_001256689.1:c.641T>G, NM_001256685.2:c.737T>G, NM_001256685.1:c.737T>G, NM_001256687.2:c.593T>G, NM_001256687.1:c.593T>G, XM_011518085.2:c.488T>G, XM_011518085.1:c.488T>G, NM_001256693.2:c.155T>G, NM_001256693.1:c.155T>G, NM_001256690.2:c.524T>G, NM_001256690.1:c.524T>G, NM_001256688.2:c.524T>G, NM_001256688.1:c.524T>G, NM_001256691.2:c.497T>G, NM_001256691.1:c.497T>G, NM_001256692.2:c.344T>G, NM_001256692.1:c.344T>G, XM_047424166.1:c.737T>G, XM_047424168.1:c.737T>G, XM_047424171.1:c.737T>G, XM_047424173.1:c.593T>G, XM_047424177.1:c.641T>G, XM_047424169.1:c.737T>G, XM_047424182.1:c.641T>G, XM_047424180.1:c.737T>G, XM_047424187.1:c.497T>G, XM_047424185.1:c.593T>G, XM_047424170.1:c.737T>G, XM_047424172.1:c.593T>G, XM_047424192.1:c.593T>G, XM_011518080.1:c.737T>G, XM_047424176.1:c.641T>G, XM_047424195.1:c.641T>G, XM_047424183.1:c.641T>G, XM_047424179.1:c.737T>G, XM_047424188.1:c.497T>G, XM_047424186.1:c.593T>G, XM_047424204.1:c.497T>G, XM_047424174.1:c.641T>G, XM_047424191.1:c.593T>G, XM_047424181.1:c.641T>G, XM_047424178.1:c.737T>G, XM_047424193.1:c.641T>G, XM_047424184.1:c.593T>G, XM_047424197.1:c.497T>G, XM_047424189.1:c.593T>G, XM_047424198.1:c.488T>G, XM_047424203.1:c.497T>G, XM_047424200.1:c.593T>G, XM_047424194.1:c.641T>G, XM_047424205.1:c.488T>G, XM_047424196.1:c.497T>G, XM_047424202.1:c.497T>G, XM_047424199.1:c.593T>G, XM_047424206.1:c.497T>G, NP_055606.1:p.Val246Gly, XP_011516378.1:p.Val246Gly, XP_011516384.1:p.Val214Gly, XP_011516383.1:p.Val214Gly, XP_011516379.1:p.Val246Gly, NP_001243618.1:p.Val214Gly, NP_001243614.1:p.Val246Gly, NP_001243616.1:p.Val198Gly, XP_011516387.1:p.Val163Gly, NP_001243622.1:p.Val52Gly, NP_001243619.1:p.Val175Gly, NP_001243617.1:p.Val175Gly, NP_001243620.1:p.Val166Gly, NP_001243621.1:p.Val115Gly, XP_047280122.1:p.Val246Gly, XP_047280124.1:p.Val246Gly, XP_047280127.1:p.Val246Gly, XP_047280129.1:p.Val198Gly, XP_047280133.1:p.Val214Gly, XP_047280125.1:p.Val246Gly, XP_047280138.1:p.Val214Gly, XP_047280136.1:p.Val246Gly, XP_047280143.1:p.Val166Gly, XP_047280141.1:p.Val198Gly, XP_047280126.1:p.Val246Gly, XP_047280128.1:p.Val198Gly, XP_047280148.1:p.Val198Gly, XP_011516382.1:p.Val246Gly, XP_047280132.1:p.Val214Gly, XP_047280151.1:p.Val214Gly, XP_047280139.1:p.Val214Gly, XP_047280135.1:p.Val246Gly, XP_047280144.1:p.Val166Gly, XP_047280142.1:p.Val198Gly, XP_047280160.1:p.Val166Gly, XP_047280130.1:p.Val214Gly, XP_047280147.1:p.Val198Gly, XP_047280137.1:p.Val214Gly, XP_047280134.1:p.Val246Gly, XP_047280149.1:p.Val214Gly, XP_047280140.1:p.Val198Gly, XP_047280153.1:p.Val166Gly, XP_047280145.1:p.Val198Gly, XP_047280154.1:p.Val163Gly, XP_047280159.1:p.Val166Gly, XP_047280156.1:p.Val198Gly, XP_047280150.1:p.Val214Gly, XP_047280161.1:p.Val163Gly, XP_047280152.1:p.Val166Gly, XP_047280158.1:p.Val166Gly, XP_047280155.1:p.Val198Gly, XP_047280162.1:p.Val166Gly

                              15.

                              rs1461331876 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                TC>- [Show Flanks]
                                Chromosome:
                                9:36677315 (GRCh38)
                                9:36677312 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:36677314:TC:
                                Gene:
                                MELK (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
                                HGVS:
                                NC_000009.12:g.36677315_36677316del, NC_000009.11:g.36677312_36677313del, NM_014791.4:c.1934_1935del, NM_014791.3:c.1934_1935del, XM_011518076.3:c.1934_1935del, XM_011518076.2:c.1934_1935del, XM_011518076.1:c.1934_1935del, XM_011518082.3:c.1838_1839del, XM_011518082.2:c.1838_1839del, XM_011518082.1:c.1838_1839del, XM_011518081.3:c.1838_1839del, XM_011518081.2:c.1838_1839del, XM_011518081.1:c.1838_1839del, XM_011518077.2:c.1934_1935del, XM_011518077.1:c.1934_1935del, NR_046337.2:n.2122_2123del, NR_046337.1:n.2155_2156del, NM_001256689.2:c.1838_1839del, NM_001256689.1:c.1838_1839del, NM_001256685.2:c.1811_1812del, NM_001256685.1:c.1811_1812del, NM_001256687.2:c.1790_1791del, NM_001256687.1:c.1790_1791del, XM_011518085.2:c.1685_1686del, XM_011518085.1:c.1685_1686del, NM_001256693.2:c.1352_1353del, NM_001256693.1:c.1352_1353del, NM_001256690.2:c.1721_1722del, NM_001256690.1:c.1721_1722del, NM_001256688.2:c.1721_1722del, NM_001256688.1:c.1721_1722del, NM_001256691.2:c.1694_1695del, NM_001256691.1:c.1694_1695del, NM_001256692.2:c.1541_1542del, NM_001256692.1:c.1541_1542del, XM_047424166.1:c.1934_1935del, XM_047424168.1:c.1847_1848del, XM_047424171.1:c.1811_1812del, XM_047424173.1:c.1790_1791del, XM_047424177.1:c.1751_1752del, XM_047424169.1:c.1847_1848del, XM_047424182.1:c.1715_1716del, XM_047424180.1:c.1724_1725del, XM_047424187.1:c.1694_1695del, XM_047424185.1:c.1703_1704del, XM_047424170.1:c.1811_1812del, XM_047424172.1:c.1790_1791del, XM_047424192.1:c.1667_1668del, XM_011518080.1:c.1847_1848del, XM_047424176.1:c.1751_1752del, XM_047424195.1:c.1628_1629del, XM_047424183.1:c.1715_1716del, XM_047424179.1:c.1724_1725del, XM_047424188.1:c.1694_1695del, XM_047424186.1:c.1703_1704del, XM_047424204.1:c.1571_1572del, XM_047424174.1:c.1751_1752del, XM_047424191.1:c.1667_1668del, XM_047424181.1:c.1715_1716del, XM_047424178.1:c.1724_1725del, XM_047424193.1:c.1628_1629del, XM_047424184.1:c.1703_1704del, XM_047424197.1:c.1607_1608del, XM_047424189.1:c.1667_1668del, XM_047424198.1:c.1598_1599del, XM_047424203.1:c.1571_1572del, XM_047424200.1:c.1580_1581del, XM_047424194.1:c.1628_1629del, XM_047424205.1:c.1562_1563del, XM_047424196.1:c.1607_1608del, XM_047424202.1:c.1571_1572del, XM_047424199.1:c.1580_1581del, XM_047424206.1:c.1484_1485del, NP_055606.1:p.Ile645fs, XP_011516378.1:p.Ile645fs, XP_011516384.1:p.Ile613fs, XP_011516383.1:p.Ile613fs, XP_011516379.1:p.Ile645fs, NP_001243618.1:p.Ile613fs, NP_001243614.1:p.Ile604fs, NP_001243616.1:p.Ile597fs, XP_011516387.1:p.Ile562fs, NP_001243622.1:p.Ile451fs, NP_001243619.1:p.Ile574fs, NP_001243617.1:p.Ile574fs, NP_001243620.1:p.Ile565fs, NP_001243621.1:p.Ile514fs, XP_047280122.1:p.Ile645fs, XP_047280124.1:p.Ile616fs, XP_047280127.1:p.Ile604fs, XP_047280129.1:p.Ile597fs, XP_047280133.1:p.Ile584fs, XP_047280125.1:p.Ile616fs, XP_047280138.1:p.Ile572fs, XP_047280136.1:p.Ile575fs, XP_047280143.1:p.Ile565fs, XP_047280141.1:p.Ile568fs, XP_047280126.1:p.Ile604fs, XP_047280128.1:p.Ile597fs, XP_047280148.1:p.Ile556fs, XP_011516382.1:p.Ile616fs, XP_047280132.1:p.Ile584fs, XP_047280151.1:p.Ile543fs, XP_047280139.1:p.Ile572fs, XP_047280135.1:p.Ile575fs, XP_047280144.1:p.Ile565fs, XP_047280142.1:p.Ile568fs, XP_047280160.1:p.Ile524fs, XP_047280130.1:p.Ile584fs, XP_047280147.1:p.Ile556fs, XP_047280137.1:p.Ile572fs, XP_047280134.1:p.Ile575fs, XP_047280149.1:p.Ile543fs, XP_047280140.1:p.Ile568fs, XP_047280153.1:p.Ile536fs, XP_047280145.1:p.Ile556fs, XP_047280154.1:p.Ile533fs, XP_047280159.1:p.Ile524fs, XP_047280156.1:p.Ile527fs, XP_047280150.1:p.Ile543fs, XP_047280161.1:p.Ile521fs, XP_047280152.1:p.Ile536fs, XP_047280158.1:p.Ile524fs, XP_047280155.1:p.Ile527fs, XP_047280162.1:p.Ile495fs

                                16.

                                rs1460430422 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  9:36670998 (GRCh38)
                                  9:36670995 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:36670997:G:A
                                  Gene:
                                  MELK (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000009.12:g.36670998G>A, NC_000009.11:g.36670995G>A, NM_014791.4:c.1506G>A, NM_014791.3:c.1506G>A, XM_011518076.3:c.1506G>A, XM_011518076.2:c.1506G>A, XM_011518076.1:c.1506G>A, XM_011518082.3:c.1410G>A, XM_011518082.2:c.1410G>A, XM_011518082.1:c.1410G>A, XM_011518081.3:c.1410G>A, XM_011518081.2:c.1410G>A, XM_011518081.1:c.1410G>A, XM_011518077.2:c.1506G>A, XM_011518077.1:c.1506G>A, NR_046337.2:n.1694G>A, NR_046337.1:n.1727G>A, NM_001256689.2:c.1410G>A, NM_001256689.1:c.1410G>A, NM_001256685.2:c.1383G>A, NM_001256685.1:c.1383G>A, NM_001256687.2:c.1362G>A, NM_001256687.1:c.1362G>A, XM_011518085.2:c.1257G>A, XM_011518085.1:c.1257G>A, NM_001256693.2:c.924G>A, NM_001256693.1:c.924G>A, NM_001256690.2:c.1293G>A, NM_001256690.1:c.1293G>A, NM_001256688.2:c.1293G>A, NM_001256688.1:c.1293G>A, NM_001256691.2:c.1266G>A, NM_001256691.1:c.1266G>A, NM_001256692.2:c.1113G>A, NM_001256692.1:c.1113G>A, XM_047424166.1:c.1506G>A, XM_047424168.1:c.1419G>A, XM_047424171.1:c.1383G>A, XM_047424173.1:c.1362G>A, XM_047424177.1:c.1323G>A, XM_047424169.1:c.1419G>A, XM_047424182.1:c.1287G>A, XM_047424180.1:c.1296G>A, XM_047424187.1:c.1266G>A, XM_047424185.1:c.1275G>A, XM_047424170.1:c.1383G>A, XM_047424172.1:c.1362G>A, XM_047424192.1:c.1239G>A, XM_011518080.1:c.1419G>A, XM_047424176.1:c.1323G>A, XM_047424195.1:c.1200G>A, XM_047424183.1:c.1287G>A, XM_047424179.1:c.1296G>A, XM_047424188.1:c.1266G>A, XM_047424186.1:c.1275G>A, XM_047424204.1:c.1143G>A, XM_047424174.1:c.1323G>A, XM_047424191.1:c.1239G>A, XM_047424181.1:c.1287G>A, XM_047424178.1:c.1296G>A, XM_047424193.1:c.1200G>A, XM_047424184.1:c.1275G>A, XM_047424197.1:c.1179G>A, XM_047424189.1:c.1239G>A, XM_047424198.1:c.1170G>A, XM_047424203.1:c.1143G>A, XM_047424200.1:c.1152G>A, XM_047424194.1:c.1200G>A, XM_047424205.1:c.1134G>A, XM_047424196.1:c.1179G>A, XM_047424202.1:c.1143G>A, XM_047424199.1:c.1152G>A, XM_047424206.1:c.1056G>A

                                  17.

                                  rs1459091764 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    9:36665424 (GRCh38)
                                    9:36665421 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:36665423:A:C
                                    Gene:
                                    MELK (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000009.12:g.36665424A>C, NC_000009.11:g.36665421A>C, NM_014791.4:c.1251A>C, NM_014791.3:c.1251A>C, XM_011518076.3:c.1251A>C, XM_011518076.2:c.1251A>C, XM_011518076.1:c.1251A>C, XM_011518082.3:c.1155A>C, XM_011518082.2:c.1155A>C, XM_011518082.1:c.1155A>C, XM_011518081.3:c.1155A>C, XM_011518081.2:c.1155A>C, XM_011518081.1:c.1155A>C, XM_011518077.2:c.1251A>C, XM_011518077.1:c.1251A>C, NR_046337.2:n.1439A>C, NR_046337.1:n.1472A>C, NM_001256689.2:c.1155A>C, NM_001256689.1:c.1155A>C, NM_001256685.2:c.1128A>C, NM_001256685.1:c.1128A>C, NM_001256687.2:c.1107A>C, NM_001256687.1:c.1107A>C, XM_011518085.2:c.1002A>C, XM_011518085.1:c.1002A>C, NM_001256693.2:c.669A>C, NM_001256693.1:c.669A>C, NM_001256690.2:c.1038A>C, NM_001256690.1:c.1038A>C, NM_001256688.2:c.1038A>C, NM_001256688.1:c.1038A>C, NM_001256691.2:c.1011A>C, NM_001256691.1:c.1011A>C, NM_001256692.2:c.858A>C, NM_001256692.1:c.858A>C, XM_047424166.1:c.1251A>C, XM_047424168.1:c.1164A>C, XM_047424171.1:c.1128A>C, XM_047424173.1:c.1107A>C, XM_047424177.1:c.1068A>C, XM_047424169.1:c.1164A>C, XM_047424182.1:c.1032A>C, XM_047424180.1:c.1041A>C, XM_047424187.1:c.1011A>C, XM_047424185.1:c.1020A>C, XM_047424170.1:c.1128A>C, XM_047424172.1:c.1107A>C, XM_047424192.1:c.984A>C, XM_011518080.1:c.1164A>C, XM_047424176.1:c.1068A>C, XM_047424195.1:c.945A>C, XM_047424183.1:c.1032A>C, XM_047424179.1:c.1041A>C, XM_047424188.1:c.1011A>C, XM_047424186.1:c.1020A>C, XM_047424204.1:c.888A>C, XM_047424174.1:c.1068A>C, XM_047424191.1:c.984A>C, XM_047424181.1:c.1032A>C, XM_047424178.1:c.1041A>C, XM_047424193.1:c.945A>C, XM_047424184.1:c.1020A>C, XM_047424197.1:c.924A>C, XM_047424189.1:c.984A>C, XM_047424198.1:c.915A>C, XM_047424203.1:c.888A>C, XM_047424200.1:c.897A>C, XM_047424194.1:c.945A>C, XM_047424205.1:c.879A>C, XM_047424196.1:c.924A>C, XM_047424202.1:c.888A>C, XM_047424199.1:c.897A>C, XM_047424206.1:c.801A>C

                                    18.

                                    rs1454635644 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      9:36599440 (GRCh38)
                                      9:36599437 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:36599439:A:G
                                      Gene:
                                      MELK (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000009.12:g.36599440A>G, NC_000009.11:g.36599437A>G, NM_014791.4:c.521A>G, NM_014791.3:c.521A>G, XM_011518076.3:c.521A>G, XM_011518076.2:c.521A>G, XM_011518076.1:c.521A>G, XM_011518082.3:c.425A>G, XM_011518082.2:c.425A>G, XM_011518082.1:c.425A>G, XM_011518081.3:c.425A>G, XM_011518081.2:c.425A>G, XM_011518081.1:c.425A>G, XM_011518077.2:c.521A>G, XM_011518077.1:c.521A>G, NR_046337.2:n.586A>G, NR_046337.1:n.619A>G, NM_001256689.2:c.425A>G, NM_001256689.1:c.425A>G, NM_001256685.2:c.521A>G, NM_001256685.1:c.521A>G, NM_001256687.2:c.377A>G, NM_001256687.1:c.377A>G, XM_011518085.2:c.272A>G, XM_011518085.1:c.272A>G, NM_001256693.2:c.-58A>G, NM_001256693.1:c.-58A>G, NM_001256690.2:c.308A>G, NM_001256690.1:c.308A>G, NM_001256688.2:c.308A>G, NM_001256688.1:c.308A>G, NM_001256691.2:c.281A>G, NM_001256691.1:c.281A>G, NM_001256692.2:c.128A>G, NM_001256692.1:c.128A>G, XM_047424166.1:c.521A>G, XM_047424168.1:c.521A>G, XM_047424171.1:c.521A>G, XM_047424173.1:c.377A>G, XM_047424177.1:c.425A>G, XM_047424169.1:c.521A>G, XM_047424182.1:c.425A>G, XM_047424180.1:c.521A>G, XM_047424187.1:c.281A>G, XM_047424185.1:c.377A>G, XM_047424170.1:c.521A>G, XM_047424172.1:c.377A>G, XM_047424192.1:c.377A>G, XM_011518080.1:c.521A>G, XM_047424176.1:c.425A>G, XM_047424195.1:c.425A>G, XM_047424183.1:c.425A>G, XM_047424179.1:c.521A>G, XM_047424188.1:c.281A>G, XM_047424186.1:c.377A>G, XM_047424204.1:c.281A>G, XM_047424174.1:c.425A>G, XM_047424191.1:c.377A>G, XM_047424181.1:c.425A>G, XM_047424178.1:c.521A>G, XM_047424193.1:c.425A>G, XM_047424184.1:c.377A>G, XM_047424197.1:c.281A>G, XM_047424189.1:c.377A>G, XM_047424198.1:c.272A>G, XM_047424203.1:c.281A>G, XM_047424200.1:c.377A>G, XM_047424194.1:c.425A>G, XM_047424205.1:c.272A>G, XM_047424196.1:c.281A>G, XM_047424202.1:c.281A>G, XM_047424199.1:c.377A>G, XM_047424206.1:c.281A>G, NP_055606.1:p.Tyr174Cys, XP_011516378.1:p.Tyr174Cys, XP_011516384.1:p.Tyr142Cys, XP_011516383.1:p.Tyr142Cys, XP_011516379.1:p.Tyr174Cys, NP_001243618.1:p.Tyr142Cys, NP_001243614.1:p.Tyr174Cys, NP_001243616.1:p.Tyr126Cys, XP_011516387.1:p.Tyr91Cys, NP_001243619.1:p.Tyr103Cys, NP_001243617.1:p.Tyr103Cys, NP_001243620.1:p.Tyr94Cys, NP_001243621.1:p.Tyr43Cys, XP_047280122.1:p.Tyr174Cys, XP_047280124.1:p.Tyr174Cys, XP_047280127.1:p.Tyr174Cys, XP_047280129.1:p.Tyr126Cys, XP_047280133.1:p.Tyr142Cys, XP_047280125.1:p.Tyr174Cys, XP_047280138.1:p.Tyr142Cys, XP_047280136.1:p.Tyr174Cys, XP_047280143.1:p.Tyr94Cys, XP_047280141.1:p.Tyr126Cys, XP_047280126.1:p.Tyr174Cys, XP_047280128.1:p.Tyr126Cys, XP_047280148.1:p.Tyr126Cys, XP_011516382.1:p.Tyr174Cys, XP_047280132.1:p.Tyr142Cys, XP_047280151.1:p.Tyr142Cys, XP_047280139.1:p.Tyr142Cys, XP_047280135.1:p.Tyr174Cys, XP_047280144.1:p.Tyr94Cys, XP_047280142.1:p.Tyr126Cys, XP_047280160.1:p.Tyr94Cys, XP_047280130.1:p.Tyr142Cys, XP_047280147.1:p.Tyr126Cys, XP_047280137.1:p.Tyr142Cys, XP_047280134.1:p.Tyr174Cys, XP_047280149.1:p.Tyr142Cys, XP_047280140.1:p.Tyr126Cys, XP_047280153.1:p.Tyr94Cys, XP_047280145.1:p.Tyr126Cys, XP_047280154.1:p.Tyr91Cys, XP_047280159.1:p.Tyr94Cys, XP_047280156.1:p.Tyr126Cys, XP_047280150.1:p.Tyr142Cys, XP_047280161.1:p.Tyr91Cys, XP_047280152.1:p.Tyr94Cys, XP_047280158.1:p.Tyr94Cys, XP_047280155.1:p.Tyr126Cys, XP_047280162.1:p.Tyr94Cys

                                      19.

                                      rs1453328038 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        9:36599414 (GRCh38)
                                        9:36599411 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:36599413:A:G
                                        Gene:
                                        MELK (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000009.12:g.36599414A>G, NC_000009.11:g.36599411A>G, NM_014791.4:c.495A>G, NM_014791.3:c.495A>G, XM_011518076.3:c.495A>G, XM_011518076.2:c.495A>G, XM_011518076.1:c.495A>G, XM_011518082.3:c.399A>G, XM_011518082.2:c.399A>G, XM_011518082.1:c.399A>G, XM_011518081.3:c.399A>G, XM_011518081.2:c.399A>G, XM_011518081.1:c.399A>G, XM_011518077.2:c.495A>G, XM_011518077.1:c.495A>G, NR_046337.2:n.560A>G, NR_046337.1:n.593A>G, NM_001256689.2:c.399A>G, NM_001256689.1:c.399A>G, NM_001256685.2:c.495A>G, NM_001256685.1:c.495A>G, NM_001256687.2:c.351A>G, NM_001256687.1:c.351A>G, XM_011518085.2:c.246A>G, XM_011518085.1:c.246A>G, NM_001256693.2:c.-84A>G, NM_001256693.1:c.-84A>G, NM_001256690.2:c.282A>G, NM_001256690.1:c.282A>G, NM_001256688.2:c.282A>G, NM_001256688.1:c.282A>G, NM_001256691.2:c.255A>G, NM_001256691.1:c.255A>G, NM_001256692.2:c.102A>G, NM_001256692.1:c.102A>G, XM_047424166.1:c.495A>G, XM_047424168.1:c.495A>G, XM_047424171.1:c.495A>G, XM_047424173.1:c.351A>G, XM_047424177.1:c.399A>G, XM_047424169.1:c.495A>G, XM_047424182.1:c.399A>G, XM_047424180.1:c.495A>G, XM_047424187.1:c.255A>G, XM_047424185.1:c.351A>G, XM_047424170.1:c.495A>G, XM_047424172.1:c.351A>G, XM_047424192.1:c.351A>G, XM_011518080.1:c.495A>G, XM_047424176.1:c.399A>G, XM_047424195.1:c.399A>G, XM_047424183.1:c.399A>G, XM_047424179.1:c.495A>G, XM_047424188.1:c.255A>G, XM_047424186.1:c.351A>G, XM_047424204.1:c.255A>G, XM_047424174.1:c.399A>G, XM_047424191.1:c.351A>G, XM_047424181.1:c.399A>G, XM_047424178.1:c.495A>G, XM_047424193.1:c.399A>G, XM_047424184.1:c.351A>G, XM_047424197.1:c.255A>G, XM_047424189.1:c.351A>G, XM_047424198.1:c.246A>G, XM_047424203.1:c.255A>G, XM_047424200.1:c.351A>G, XM_047424194.1:c.399A>G, XM_047424205.1:c.246A>G, XM_047424196.1:c.255A>G, XM_047424202.1:c.255A>G, XM_047424199.1:c.351A>G, XM_047424206.1:c.255A>G

                                        20.

                                        rs1452717393 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          9:36665357 (GRCh38)
                                          9:36665354 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:36665356:A:G
                                          Gene:
                                          MELK (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000009.12:g.36665357A>G, NC_000009.11:g.36665354A>G, NM_014791.4:c.1184A>G, NM_014791.3:c.1184A>G, XM_011518076.3:c.1184A>G, XM_011518076.2:c.1184A>G, XM_011518076.1:c.1184A>G, XM_011518082.3:c.1088A>G, XM_011518082.2:c.1088A>G, XM_011518082.1:c.1088A>G, XM_011518081.3:c.1088A>G, XM_011518081.2:c.1088A>G, XM_011518081.1:c.1088A>G, XM_011518077.2:c.1184A>G, XM_011518077.1:c.1184A>G, NR_046337.2:n.1372A>G, NR_046337.1:n.1405A>G, NM_001256689.2:c.1088A>G, NM_001256689.1:c.1088A>G, NM_001256685.2:c.1061A>G, NM_001256685.1:c.1061A>G, NM_001256687.2:c.1040A>G, NM_001256687.1:c.1040A>G, XM_011518085.2:c.935A>G, XM_011518085.1:c.935A>G, NM_001256693.2:c.602A>G, NM_001256693.1:c.602A>G, NM_001256690.2:c.971A>G, NM_001256690.1:c.971A>G, NM_001256688.2:c.971A>G, NM_001256688.1:c.971A>G, NM_001256691.2:c.944A>G, NM_001256691.1:c.944A>G, NM_001256692.2:c.791A>G, NM_001256692.1:c.791A>G, XM_047424166.1:c.1184A>G, XM_047424168.1:c.1097A>G, XM_047424171.1:c.1061A>G, XM_047424173.1:c.1040A>G, XM_047424177.1:c.1001A>G, XM_047424169.1:c.1097A>G, XM_047424182.1:c.965A>G, XM_047424180.1:c.974A>G, XM_047424187.1:c.944A>G, XM_047424185.1:c.953A>G, XM_047424170.1:c.1061A>G, XM_047424172.1:c.1040A>G, XM_047424192.1:c.917A>G, XM_011518080.1:c.1097A>G, XM_047424176.1:c.1001A>G, XM_047424195.1:c.878A>G, XM_047424183.1:c.965A>G, XM_047424179.1:c.974A>G, XM_047424188.1:c.944A>G, XM_047424186.1:c.953A>G, XM_047424204.1:c.821A>G, XM_047424174.1:c.1001A>G, XM_047424191.1:c.917A>G, XM_047424181.1:c.965A>G, XM_047424178.1:c.974A>G, XM_047424193.1:c.878A>G, XM_047424184.1:c.953A>G, XM_047424197.1:c.857A>G, XM_047424189.1:c.917A>G, XM_047424198.1:c.848A>G, XM_047424203.1:c.821A>G, XM_047424200.1:c.830A>G, XM_047424194.1:c.878A>G, XM_047424205.1:c.812A>G, XM_047424196.1:c.857A>G, XM_047424202.1:c.821A>G, XM_047424199.1:c.830A>G, XM_047424206.1:c.734A>G, NP_055606.1:p.Lys395Arg, XP_011516378.1:p.Lys395Arg, XP_011516384.1:p.Lys363Arg, XP_011516383.1:p.Lys363Arg, XP_011516379.1:p.Lys395Arg, NP_001243618.1:p.Lys363Arg, NP_001243614.1:p.Lys354Arg, NP_001243616.1:p.Lys347Arg, XP_011516387.1:p.Lys312Arg, NP_001243622.1:p.Lys201Arg, NP_001243619.1:p.Lys324Arg, NP_001243617.1:p.Lys324Arg, NP_001243620.1:p.Lys315Arg, NP_001243621.1:p.Lys264Arg, XP_047280122.1:p.Lys395Arg, XP_047280124.1:p.Lys366Arg, XP_047280127.1:p.Lys354Arg, XP_047280129.1:p.Lys347Arg, XP_047280133.1:p.Lys334Arg, XP_047280125.1:p.Lys366Arg, XP_047280138.1:p.Lys322Arg, XP_047280136.1:p.Lys325Arg, XP_047280143.1:p.Lys315Arg, XP_047280141.1:p.Lys318Arg, XP_047280126.1:p.Lys354Arg, XP_047280128.1:p.Lys347Arg, XP_047280148.1:p.Lys306Arg, XP_011516382.1:p.Lys366Arg, XP_047280132.1:p.Lys334Arg, XP_047280151.1:p.Lys293Arg, XP_047280139.1:p.Lys322Arg, XP_047280135.1:p.Lys325Arg, XP_047280144.1:p.Lys315Arg, XP_047280142.1:p.Lys318Arg, XP_047280160.1:p.Lys274Arg, XP_047280130.1:p.Lys334Arg, XP_047280147.1:p.Lys306Arg, XP_047280137.1:p.Lys322Arg, XP_047280134.1:p.Lys325Arg, XP_047280149.1:p.Lys293Arg, XP_047280140.1:p.Lys318Arg, XP_047280153.1:p.Lys286Arg, XP_047280145.1:p.Lys306Arg, XP_047280154.1:p.Lys283Arg, XP_047280159.1:p.Lys274Arg, XP_047280156.1:p.Lys277Arg, XP_047280150.1:p.Lys293Arg, XP_047280161.1:p.Lys271Arg, XP_047280152.1:p.Lys286Arg, XP_047280158.1:p.Lys274Arg, XP_047280155.1:p.Lys277Arg, XP_047280162.1:p.Lys245Arg

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