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Items: 1 to 20 of 653

1.

rs1490085576 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    1:92636248 (GRCh38)
    1:93101805 (GRCh37)
    Canonical SPDI:
    NC_000001.11:92636247:T:C
    Gene:
    EVI5 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    C=0.000008/2 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.92636248T>C, NC_000001.10:g.93101805T>C, NM_005665.6:c.1433A>G, NM_005665.5:c.1433A>G, NM_005665.4:c.1433A>G, XM_017002270.3:c.1685A>G, XM_017002270.2:c.1685A>G, XM_017002270.1:c.1685A>G, XM_017002273.3:c.1562A>G, XM_017002273.2:c.1562A>G, XM_017002273.1:c.1562A>G, XM_017002271.3:c.1613A>G, XM_017002271.2:c.1613A>G, XM_017002271.1:c.1613A>G, XM_017002286.3:c.1070A>G, XM_017002286.2:c.1070A>G, XM_017002286.1:c.1070A>G, NM_001350198.2:c.1481A>G, NM_001350198.1:c.1481A>G, NM_001350197.2:c.1481A>G, NM_001350197.1:c.1481A>G, NM_001308248.2:c.1466A>G, NM_001308248.1:c.1466A>G, XM_017002269.2:c.1694A>G, XM_017002269.1:c.1694A>G, XM_017002282.2:c.1694A>G, XM_017002282.1:c.1694A>G, XM_017002272.2:c.1694A>G, XM_017002272.1:c.1694A>G, XM_024449686.2:c.1613A>G, XM_024449686.1:c.1613A>G, XM_017002279.2:c.1427A>G, XM_017002279.1:c.1427A>G, XM_017002277.2:c.1466A>G, XM_017002277.1:c.1466A>G, XM_017002278.2:c.1547A>G, XM_017002278.1:c.1547A>G, XM_024449689.2:c.1514A>G, XM_024449689.1:c.1514A>G, XM_024449690.2:c.1346A>G, XM_024449690.1:c.1346A>G, XR_001737401.2:n.1833A>G, XR_001737401.1:n.1825A>G, NM_001377210.1:c.1457A>G, NM_001377213.1:c.1562A>G, NM_001377211.1:c.1439A>G, NM_001377212.1:c.1334A>G, XM_047430040.1:c.1604A>G, XM_047430051.1:c.1457A>G, XM_017002274.1:c.1562A>G, XM_017002275.1:c.1562A>G, XM_047430054.1:c.1433A>G, XM_017002288.1:c.1070A>G, NP_005656.4:p.Gln478Arg, XP_016857759.1:p.Gln562Arg, XP_016857762.1:p.Gln521Arg, XP_016857760.1:p.Gln538Arg, XP_016857775.1:p.Gln357Arg, NP_001337127.1:p.Gln494Arg, NP_001337126.1:p.Gln494Arg, NP_001295177.1:p.Gln489Arg, XP_016857758.1:p.Gln565Arg, XP_016857771.1:p.Gln565Arg, XP_016857761.1:p.Gln565Arg, XP_024305454.1:p.Gln538Arg, XP_016857768.1:p.Gln476Arg, XP_016857766.1:p.Gln489Arg, XP_016857767.1:p.Gln516Arg, XP_024305457.1:p.Gln505Arg, XP_024305458.1:p.Gln449Arg, NP_001364139.1:p.Gln486Arg, NP_001364142.1:p.Gln521Arg, NP_001364140.1:p.Gln480Arg, NP_001364141.1:p.Gln445Arg, XP_047285996.1:p.Gln535Arg, XP_047286007.1:p.Gln486Arg, XP_016857763.1:p.Gln521Arg, XP_016857764.1:p.Gln521Arg, XP_047286010.1:p.Gln478Arg, XP_016857777.1:p.Gln357Arg

    2.

    rs1489130472 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      1:92704727 (GRCh38)
      1:93170284 (GRCh37)
      Canonical SPDI:
      NC_000001.11:92704726:C:A,NC_000001.11:92704726:C:T
      Gene:
      EVI5 (Varview)
      Functional Consequence:
      upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000071/1 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      A=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000001.11:g.92704727C>A, NC_000001.11:g.92704727C>T, NC_000001.10:g.93170284C>A, NC_000001.10:g.93170284C>T, NM_005665.6:c.299G>T, NM_005665.6:c.299G>A, NM_005665.5:c.299G>T, NM_005665.5:c.299G>A, NM_005665.4:c.299G>T, NM_005665.4:c.299G>A, XM_017002270.3:c.290G>T, XM_017002270.3:c.290G>A, XM_017002270.2:c.290G>T, XM_017002270.2:c.290G>A, XM_017002270.1:c.290G>T, XM_017002270.1:c.290G>A, XM_017002273.3:c.167G>T, XM_017002273.3:c.167G>A, XM_017002273.2:c.167G>T, XM_017002273.2:c.167G>A, XM_017002273.1:c.167G>T, XM_017002273.1:c.167G>A, XM_017002271.3:c.299G>T, XM_017002271.3:c.299G>A, XM_017002271.2:c.299G>T, XM_017002271.2:c.299G>A, XM_017002271.1:c.299G>T, XM_017002271.1:c.299G>A, XM_017002286.3:c.-245G>T, XM_017002286.3:c.-245G>A, XM_017002286.2:c.-245G>T, XM_017002286.2:c.-245G>A, XM_017002286.1:c.-245G>T, XM_017002286.1:c.-245G>A, NM_001350198.2:c.167G>T, NM_001350198.2:c.167G>A, NM_001350198.1:c.167G>T, NM_001350198.1:c.167G>A, NM_001350197.2:c.167G>T, NM_001350197.2:c.167G>A, NM_001350197.1:c.167G>T, NM_001350197.1:c.167G>A, NM_001308248.2:c.299G>T, NM_001308248.2:c.299G>A, NM_001308248.1:c.299G>T, NM_001308248.1:c.299G>A, XM_017002269.2:c.299G>T, XM_017002269.2:c.299G>A, XM_017002269.1:c.299G>T, XM_017002269.1:c.299G>A, XM_017002282.2:c.299G>T, XM_017002282.2:c.299G>A, XM_017002282.1:c.299G>T, XM_017002282.1:c.299G>A, XM_017002272.2:c.299G>T, XM_017002272.2:c.299G>A, XM_017002272.1:c.299G>T, XM_017002272.1:c.299G>A, XM_024449686.2:c.299G>T, XM_024449686.2:c.299G>A, XM_024449686.1:c.299G>T, XM_024449686.1:c.299G>A, XM_017002279.2:c.32G>T, XM_017002279.2:c.32G>A, XM_017002279.1:c.32G>T, XM_017002279.1:c.32G>A, XM_017002277.2:c.299G>T, XM_017002277.2:c.299G>A, XM_017002277.1:c.299G>T, XM_017002277.1:c.299G>A, XM_017002278.2:c.299G>T, XM_017002278.2:c.299G>A, XM_017002278.1:c.299G>T, XM_017002278.1:c.299G>A, XM_024449689.2:c.299G>T, XM_024449689.2:c.299G>A, XM_024449689.1:c.299G>T, XM_024449689.1:c.299G>A, XM_024449690.2:c.32G>T, XM_024449690.2:c.32G>A, XM_024449690.1:c.32G>T, XM_024449690.1:c.32G>A, XR_001737401.2:n.315G>T, XR_001737401.2:n.315G>A, XR_001737401.1:n.307G>T, XR_001737401.1:n.307G>A, NM_001377210.1:c.290G>T, NM_001377210.1:c.290G>A, NM_001377213.1:c.167G>T, NM_001377213.1:c.167G>A, NM_001377211.1:c.167G>T, NM_001377211.1:c.167G>A, NM_001377212.1:c.167G>T, NM_001377212.1:c.167G>A, XM_047430040.1:c.290G>T, XM_047430040.1:c.290G>A, XM_047430051.1:c.290G>T, XM_047430051.1:c.290G>A, XM_017002274.1:c.167G>T, XM_017002274.1:c.167G>A, XM_017002275.1:c.167G>T, XM_017002275.1:c.167G>A, XM_047430054.1:c.299G>T, XM_047430054.1:c.299G>A, NP_005656.4:p.Ser100Ile, NP_005656.4:p.Ser100Asn, XP_016857759.1:p.Ser97Ile, XP_016857759.1:p.Ser97Asn, XP_016857762.1:p.Ser56Ile, XP_016857762.1:p.Ser56Asn, XP_016857760.1:p.Ser100Ile, XP_016857760.1:p.Ser100Asn, NP_001337127.1:p.Ser56Ile, NP_001337127.1:p.Ser56Asn, NP_001337126.1:p.Ser56Ile, NP_001337126.1:p.Ser56Asn, NP_001295177.1:p.Ser100Ile, NP_001295177.1:p.Ser100Asn, XP_016857758.1:p.Ser100Ile, XP_016857758.1:p.Ser100Asn, XP_016857771.1:p.Ser100Ile, XP_016857771.1:p.Ser100Asn, XP_016857761.1:p.Ser100Ile, XP_016857761.1:p.Ser100Asn, XP_024305454.1:p.Ser100Ile, XP_024305454.1:p.Ser100Asn, XP_016857768.1:p.Ser11Ile, XP_016857768.1:p.Ser11Asn, XP_016857766.1:p.Ser100Ile, XP_016857766.1:p.Ser100Asn, XP_016857767.1:p.Ser100Ile, XP_016857767.1:p.Ser100Asn, XP_024305457.1:p.Ser100Ile, XP_024305457.1:p.Ser100Asn, XP_024305458.1:p.Ser11Ile, XP_024305458.1:p.Ser11Asn, NP_001364139.1:p.Ser97Ile, NP_001364139.1:p.Ser97Asn, NP_001364142.1:p.Ser56Ile, NP_001364142.1:p.Ser56Asn, NP_001364140.1:p.Ser56Ile, NP_001364140.1:p.Ser56Asn, NP_001364141.1:p.Ser56Ile, NP_001364141.1:p.Ser56Asn, XP_047285996.1:p.Ser97Ile, XP_047285996.1:p.Ser97Asn, XP_047286007.1:p.Ser97Ile, XP_047286007.1:p.Ser97Asn, XP_016857763.1:p.Ser56Ile, XP_016857763.1:p.Ser56Asn, XP_016857764.1:p.Ser56Ile, XP_016857764.1:p.Ser56Asn, XP_047286010.1:p.Ser100Ile, XP_047286010.1:p.Ser100Asn

      3.

      rs1488707895 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        1:92607638 (GRCh38)
        1:93073195 (GRCh37)
        Canonical SPDI:
        NC_000001.11:92607637:T:C
        Gene:
        EVI5 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0.00005/1 (ALFA)
        HGVS:
        NC_000001.11:g.92607638T>C, NC_000001.10:g.93073195T>C, NM_005665.6:c.1869A>G, NM_005665.5:c.1869A>G, NM_005665.4:c.1869A>G, XM_017002270.3:c.2121A>G, XM_017002270.2:c.2121A>G, XM_017002270.1:c.2121A>G, XM_017002273.3:c.1998A>G, XM_017002273.2:c.1998A>G, XM_017002273.1:c.1998A>G, XM_017002271.3:c.2049A>G, XM_017002271.2:c.2049A>G, XM_017002271.1:c.2049A>G, XM_017002286.3:c.1506A>G, XM_017002286.2:c.1506A>G, XM_017002286.1:c.1506A>G, NM_001350198.2:c.1917A>G, NM_001350198.1:c.1917A>G, NM_001350197.2:c.1917A>G, NM_001350197.1:c.1917A>G, NM_001308248.2:c.1902A>G, NM_001308248.1:c.1902A>G, XM_017002269.2:c.2130A>G, XM_017002269.1:c.2130A>G, XM_017002282.2:c.2130A>G, XM_017002282.1:c.2130A>G, XM_017002272.2:c.2130A>G, XM_017002272.1:c.2130A>G, XM_024449686.2:c.2049A>G, XM_024449686.1:c.2049A>G, XM_017002279.2:c.1863A>G, XM_017002279.1:c.1863A>G, XM_017002277.2:c.1902A>G, XM_017002277.1:c.1902A>G, XM_017002278.2:c.1983A>G, XM_017002278.1:c.1983A>G, XM_024449689.2:c.1950A>G, XM_024449689.1:c.1950A>G, XM_024449690.2:c.1782A>G, XM_024449690.1:c.1782A>G, NM_001377210.1:c.1893A>G, NM_001377213.1:c.1998A>G, NM_001377211.1:c.1875A>G, NM_001377212.1:c.1770A>G, XM_047430040.1:c.2040A>G, XM_047430051.1:c.1893A>G, XM_017002274.1:c.1998A>G, XM_017002275.1:c.1998A>G, XM_047430054.1:c.1869A>G, XM_017002288.1:c.1506A>G

        4.

        rs1485323855 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          1:92625803 (GRCh38)
          1:93091360 (GRCh37)
          Canonical SPDI:
          NC_000001.11:92625802:T:C
          Gene:
          EVI5 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000028/1 (ALFA)
          C=0.000007/1 (GnomAD)
          C=0.000008/2 (TOPMED)
          HGVS:
          NC_000001.11:g.92625803T>C, NC_000001.10:g.93091360T>C, NM_005665.6:c.1611A>G, NM_005665.5:c.1611A>G, NM_005665.4:c.1611A>G, XM_017002270.3:c.1863A>G, XM_017002270.2:c.1863A>G, XM_017002270.1:c.1863A>G, XM_017002273.3:c.1740A>G, XM_017002273.2:c.1740A>G, XM_017002273.1:c.1740A>G, XM_017002271.3:c.1791A>G, XM_017002271.2:c.1791A>G, XM_017002271.1:c.1791A>G, XM_017002286.3:c.1248A>G, XM_017002286.2:c.1248A>G, XM_017002286.1:c.1248A>G, NM_001350198.2:c.1659A>G, NM_001350198.1:c.1659A>G, NM_001350197.2:c.1659A>G, NM_001350197.1:c.1659A>G, NM_001308248.2:c.1644A>G, NM_001308248.1:c.1644A>G, XM_017002269.2:c.1872A>G, XM_017002269.1:c.1872A>G, XM_017002282.2:c.1872A>G, XM_017002282.1:c.1872A>G, XM_017002272.2:c.1872A>G, XM_017002272.1:c.1872A>G, XM_024449686.2:c.1791A>G, XM_024449686.1:c.1791A>G, XM_017002279.2:c.1605A>G, XM_017002279.1:c.1605A>G, XM_017002277.2:c.1644A>G, XM_017002277.1:c.1644A>G, XM_017002278.2:c.1725A>G, XM_017002278.1:c.1725A>G, XM_024449689.2:c.1692A>G, XM_024449689.1:c.1692A>G, XM_024449690.2:c.1524A>G, XM_024449690.1:c.1524A>G, NM_001377210.1:c.1635A>G, NM_001377213.1:c.1740A>G, NM_001377211.1:c.1617A>G, NM_001377212.1:c.1512A>G, XM_047430040.1:c.1782A>G, XM_047430051.1:c.1635A>G, XM_017002274.1:c.1740A>G, XM_017002275.1:c.1740A>G, XM_047430054.1:c.1611A>G, XM_017002288.1:c.1248A>G

          5.

          rs1484325944 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            1:92736500 (GRCh38)
            1:93202057 (GRCh37)
            Canonical SPDI:
            NC_000001.11:92736499:G:C
            Gene:
            EVI5 (Varview)
            Functional Consequence:
            intron_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000035/1 (TOMMO)
            HGVS:
            NC_000001.11:g.92736500G>C, NC_000001.10:g.93202057G>C, NM_005665.6:c.179C>G, NM_005665.5:c.179C>G, NM_005665.4:c.179C>G, XM_017002270.3:c.170C>G, XM_017002270.2:c.170C>G, XM_017002270.1:c.170C>G, XM_017002273.3:c.47C>G, XM_017002273.2:c.47C>G, XM_017002273.1:c.47C>G, XM_017002271.3:c.179C>G, XM_017002271.2:c.179C>G, XM_017002271.1:c.179C>G, NM_001350198.2:c.47C>G, NM_001350198.1:c.47C>G, NM_001350197.2:c.47C>G, NM_001350197.1:c.47C>G, NM_001308248.2:c.179C>G, NM_001308248.1:c.179C>G, XM_017002269.2:c.179C>G, XM_017002269.1:c.179C>G, XM_017002282.2:c.179C>G, XM_017002282.1:c.179C>G, XM_017002272.2:c.179C>G, XM_017002272.1:c.179C>G, XM_024449686.2:c.179C>G, XM_024449686.1:c.179C>G, XM_017002277.2:c.179C>G, XM_017002277.1:c.179C>G, XM_017002278.2:c.179C>G, XM_017002278.1:c.179C>G, XM_024449689.2:c.179C>G, XM_024449689.1:c.179C>G, XR_001737401.2:n.195C>G, XR_001737401.1:n.187C>G, NM_001377210.1:c.170C>G, NM_001377213.1:c.47C>G, NM_001377211.1:c.47C>G, NM_001377212.1:c.47C>G, XM_047430040.1:c.170C>G, XM_047430051.1:c.170C>G, XM_017002274.1:c.47C>G, XM_017002275.1:c.47C>G, XM_047430054.1:c.179C>G, NP_005656.4:p.Ser60Cys, XP_016857759.1:p.Ser57Cys, XP_016857762.1:p.Ser16Cys, XP_016857760.1:p.Ser60Cys, NP_001337127.1:p.Ser16Cys, NP_001337126.1:p.Ser16Cys, NP_001295177.1:p.Ser60Cys, XP_016857758.1:p.Ser60Cys, XP_016857771.1:p.Ser60Cys, XP_016857761.1:p.Ser60Cys, XP_024305454.1:p.Ser60Cys, XP_016857766.1:p.Ser60Cys, XP_016857767.1:p.Ser60Cys, XP_024305457.1:p.Ser60Cys, NP_001364139.1:p.Ser57Cys, NP_001364142.1:p.Ser16Cys, NP_001364140.1:p.Ser16Cys, NP_001364141.1:p.Ser16Cys, XP_047285996.1:p.Ser57Cys, XP_047286007.1:p.Ser57Cys, XP_016857763.1:p.Ser16Cys, XP_016857764.1:p.Ser16Cys, XP_047286010.1:p.Ser60Cys

            6.

            rs1481084457 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              1:92695386 (GRCh38)
              1:93160943 (GRCh37)
              Canonical SPDI:
              NC_000001.11:92695385:G:C
              Gene:
              EVI5 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0.000111/1 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.92695386G>C, NC_000001.10:g.93160943G>C, NM_005665.6:c.965C>G, NM_005665.5:c.965C>G, NM_005665.4:c.965C>G, XM_017002270.3:c.1037C>G, XM_017002270.2:c.1037C>G, XM_017002270.1:c.1037C>G, XM_017002273.3:c.914C>G, XM_017002273.2:c.914C>G, XM_017002273.1:c.914C>G, XM_017002271.3:c.965C>G, XM_017002271.2:c.965C>G, XM_017002271.1:c.965C>G, XM_017002286.3:c.422C>G, XM_017002286.2:c.422C>G, XM_017002286.1:c.422C>G, NM_001350198.2:c.833C>G, NM_001350198.1:c.833C>G, NM_001350197.2:c.833C>G, NM_001350197.1:c.833C>G, NM_001308248.2:c.965C>G, NM_001308248.1:c.965C>G, XM_017002269.2:c.1046C>G, XM_017002269.1:c.1046C>G, XM_017002282.2:c.1046C>G, XM_017002282.1:c.1046C>G, XM_017002272.2:c.1046C>G, XM_017002272.1:c.1046C>G, XM_024449686.2:c.965C>G, XM_024449686.1:c.965C>G, XM_017002279.2:c.779C>G, XM_017002279.1:c.779C>G, XM_017002277.2:c.965C>G, XM_017002277.1:c.965C>G, XM_017002278.2:c.1046C>G, XM_017002278.1:c.1046C>G, XM_024449689.2:c.1046C>G, XM_024449689.1:c.1046C>G, XM_024449690.2:c.698C>G, XM_024449690.1:c.698C>G, XR_001737401.2:n.1062C>G, XR_001737401.1:n.1054C>G, NM_001377210.1:c.956C>G, NM_001377213.1:c.914C>G, NM_001377211.1:c.833C>G, NM_001377212.1:c.833C>G, XM_047430040.1:c.956C>G, XM_047430051.1:c.956C>G, XM_017002274.1:c.914C>G, XM_017002275.1:c.914C>G, XM_047430054.1:c.965C>G, XM_017002288.1:c.422C>G, NP_005656.4:p.Ser322Cys, XP_016857759.1:p.Ser346Cys, XP_016857762.1:p.Ser305Cys, XP_016857760.1:p.Ser322Cys, XP_016857775.1:p.Ser141Cys, NP_001337127.1:p.Ser278Cys, NP_001337126.1:p.Ser278Cys, NP_001295177.1:p.Ser322Cys, XP_016857758.1:p.Ser349Cys, XP_016857771.1:p.Ser349Cys, XP_016857761.1:p.Ser349Cys, XP_024305454.1:p.Ser322Cys, XP_016857768.1:p.Ser260Cys, XP_016857766.1:p.Ser322Cys, XP_016857767.1:p.Ser349Cys, XP_024305457.1:p.Ser349Cys, XP_024305458.1:p.Ser233Cys, NP_001364139.1:p.Ser319Cys, NP_001364142.1:p.Ser305Cys, NP_001364140.1:p.Ser278Cys, NP_001364141.1:p.Ser278Cys, XP_047285996.1:p.Ser319Cys, XP_047286007.1:p.Ser319Cys, XP_016857763.1:p.Ser305Cys, XP_016857764.1:p.Ser305Cys, XP_047286010.1:p.Ser322Cys, XP_016857777.1:p.Ser141Cys

              7.

              rs1480869157 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:92702169 (GRCh38)
                1:93167726 (GRCh37)
                Canonical SPDI:
                NC_000001.11:92702168:G:A
                Gene:
                EVI5 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                NC_000001.11:g.92702169G>A, NC_000001.10:g.93167726G>A, NM_005665.6:c.743C>T, NM_005665.5:c.743C>T, NM_005665.4:c.743C>T, XM_017002270.3:c.815C>T, XM_017002270.2:c.815C>T, XM_017002270.1:c.815C>T, XM_017002273.3:c.692C>T, XM_017002273.2:c.692C>T, XM_017002273.1:c.692C>T, XM_017002271.3:c.743C>T, XM_017002271.2:c.743C>T, XM_017002271.1:c.743C>T, XM_017002286.3:c.200C>T, XM_017002286.2:c.200C>T, XM_017002286.1:c.200C>T, NM_001350198.2:c.611C>T, NM_001350198.1:c.611C>T, NM_001350197.2:c.611C>T, NM_001350197.1:c.611C>T, NM_001308248.2:c.743C>T, NM_001308248.1:c.743C>T, XM_017002269.2:c.824C>T, XM_017002269.1:c.824C>T, XM_017002282.2:c.824C>T, XM_017002282.1:c.824C>T, XM_017002272.2:c.824C>T, XM_017002272.1:c.824C>T, XM_024449686.2:c.743C>T, XM_024449686.1:c.743C>T, XM_017002279.2:c.557C>T, XM_017002279.1:c.557C>T, XM_017002277.2:c.743C>T, XM_017002277.1:c.743C>T, XM_017002278.2:c.824C>T, XM_017002278.1:c.824C>T, XM_024449689.2:c.824C>T, XM_024449689.1:c.824C>T, XM_024449690.2:c.476C>T, XM_024449690.1:c.476C>T, XR_001737401.2:n.840C>T, XR_001737401.1:n.832C>T, NM_001377210.1:c.734C>T, NM_001377213.1:c.692C>T, NM_001377211.1:c.611C>T, NM_001377212.1:c.611C>T, XM_047430040.1:c.734C>T, XM_047430051.1:c.734C>T, XM_017002274.1:c.692C>T, XM_017002275.1:c.692C>T, XM_047430054.1:c.743C>T, XM_017002288.1:c.200C>T, NP_005656.4:p.Ala248Val, XP_016857759.1:p.Ala272Val, XP_016857762.1:p.Ala231Val, XP_016857760.1:p.Ala248Val, XP_016857775.1:p.Ala67Val, NP_001337127.1:p.Ala204Val, NP_001337126.1:p.Ala204Val, NP_001295177.1:p.Ala248Val, XP_016857758.1:p.Ala275Val, XP_016857771.1:p.Ala275Val, XP_016857761.1:p.Ala275Val, XP_024305454.1:p.Ala248Val, XP_016857768.1:p.Ala186Val, XP_016857766.1:p.Ala248Val, XP_016857767.1:p.Ala275Val, XP_024305457.1:p.Ala275Val, XP_024305458.1:p.Ala159Val, NP_001364139.1:p.Ala245Val, NP_001364142.1:p.Ala231Val, NP_001364140.1:p.Ala204Val, NP_001364141.1:p.Ala204Val, XP_047285996.1:p.Ala245Val, XP_047286007.1:p.Ala245Val, XP_016857763.1:p.Ala231Val, XP_016857764.1:p.Ala231Val, XP_047286010.1:p.Ala248Val, XP_016857777.1:p.Ala67Val

                8.

                rs1479550351 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  1:92662849 (GRCh38)
                  1:93128406 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:92662848:G:C
                  Gene:
                  EVI5 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000007/1 (GnomAD_exomes)
                  HGVS:
                  NC_000001.11:g.92662849G>C, NC_000001.10:g.93128406G>C, XM_017002270.3:c.1466C>G, XM_017002270.2:c.1466C>G, XM_017002270.1:c.1466C>G, XM_017002273.3:c.1343C>G, XM_017002273.2:c.1343C>G, XM_017002273.1:c.1343C>G, XM_017002271.3:c.1394C>G, XM_017002271.2:c.1394C>G, XM_017002271.1:c.1394C>G, XM_017002286.3:c.851C>G, XM_017002286.2:c.851C>G, XM_017002286.1:c.851C>G, NM_001350198.2:c.1262C>G, NM_001350198.1:c.1262C>G, NM_001350197.2:c.1262C>G, NM_001350197.1:c.1262C>G, XM_017002269.2:c.1475C>G, XM_017002269.1:c.1475C>G, XM_017002282.2:c.1475C>G, XM_017002282.1:c.1475C>G, XM_017002272.2:c.1475C>G, XM_017002272.1:c.1475C>G, XM_024449686.2:c.1394C>G, XM_024449686.1:c.1394C>G, XM_017002279.2:c.1208C>G, XM_017002279.1:c.1208C>G, XM_024449690.2:c.1127C>G, XM_024449690.1:c.1127C>G, XR_001737401.2:n.1491C>G, XR_001737401.1:n.1483C>G, NM_001377213.1:c.1343C>G, NM_001377211.1:c.1262C>G, XM_047430040.1:c.1385C>G, XM_017002274.1:c.1343C>G, XM_017002275.1:c.1343C>G, XM_017002288.1:c.851C>G, XP_016857759.1:p.Ala489Gly, XP_016857762.1:p.Ala448Gly, XP_016857760.1:p.Ala465Gly, XP_016857775.1:p.Ala284Gly, NP_001337127.1:p.Ala421Gly, NP_001337126.1:p.Ala421Gly, XP_016857758.1:p.Ala492Gly, XP_016857771.1:p.Ala492Gly, XP_016857761.1:p.Ala492Gly, XP_024305454.1:p.Ala465Gly, XP_016857768.1:p.Ala403Gly, XP_024305458.1:p.Ala376Gly, NP_001364142.1:p.Ala448Gly, NP_001364140.1:p.Ala421Gly, XP_047285996.1:p.Ala462Gly, XP_016857763.1:p.Ala448Gly, XP_016857764.1:p.Ala448Gly, XP_016857777.1:p.Ala284Gly

                  9.

                  rs1478082692 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:92704615 (GRCh38)
                    1:93170172 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:92704614:A:G
                    Gene:
                    EVI5 (Varview)
                    Functional Consequence:
                    synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000001.11:g.92704615A>G, NC_000001.10:g.93170172A>G, NM_005665.6:c.411T>C, NM_005665.5:c.411T>C, NM_005665.4:c.411T>C, XM_017002270.3:c.402T>C, XM_017002270.2:c.402T>C, XM_017002270.1:c.402T>C, XM_017002273.3:c.279T>C, XM_017002273.2:c.279T>C, XM_017002273.1:c.279T>C, XM_017002271.3:c.411T>C, XM_017002271.2:c.411T>C, XM_017002271.1:c.411T>C, XM_017002286.3:c.-133T>C, XM_017002286.2:c.-133T>C, XM_017002286.1:c.-133T>C, NM_001350198.2:c.279T>C, NM_001350198.1:c.279T>C, NM_001350197.2:c.279T>C, NM_001350197.1:c.279T>C, NM_001308248.2:c.411T>C, NM_001308248.1:c.411T>C, XM_017002269.2:c.411T>C, XM_017002269.1:c.411T>C, XM_017002282.2:c.411T>C, XM_017002282.1:c.411T>C, XM_017002272.2:c.411T>C, XM_017002272.1:c.411T>C, XM_024449686.2:c.411T>C, XM_024449686.1:c.411T>C, XM_017002279.2:c.144T>C, XM_017002279.1:c.144T>C, XM_017002277.2:c.411T>C, XM_017002277.1:c.411T>C, XM_017002278.2:c.411T>C, XM_017002278.1:c.411T>C, XM_024449689.2:c.411T>C, XM_024449689.1:c.411T>C, XM_024449690.2:c.144T>C, XM_024449690.1:c.144T>C, XR_001737401.2:n.427T>C, XR_001737401.1:n.419T>C, NM_001377210.1:c.402T>C, NM_001377213.1:c.279T>C, NM_001377211.1:c.279T>C, NM_001377212.1:c.279T>C, XM_047430040.1:c.402T>C, XM_047430051.1:c.402T>C, XM_017002274.1:c.279T>C, XM_017002275.1:c.279T>C, XM_047430054.1:c.411T>C

                    10.

                    rs1470551533 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:92695334 (GRCh38)
                      1:93160891 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:92695333:C:T
                      Gene:
                      EVI5 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.92695334C>T, NC_000001.10:g.93160891C>T, NM_005665.6:c.1017G>A, NM_005665.5:c.1017G>A, NM_005665.4:c.1017G>A, XM_017002270.3:c.1089G>A, XM_017002270.2:c.1089G>A, XM_017002270.1:c.1089G>A, XM_017002273.3:c.966G>A, XM_017002273.2:c.966G>A, XM_017002273.1:c.966G>A, XM_017002271.3:c.1017G>A, XM_017002271.2:c.1017G>A, XM_017002271.1:c.1017G>A, XM_017002286.3:c.474G>A, XM_017002286.2:c.474G>A, XM_017002286.1:c.474G>A, NM_001350198.2:c.885G>A, NM_001350198.1:c.885G>A, NM_001350197.2:c.885G>A, NM_001350197.1:c.885G>A, NM_001308248.2:c.1017G>A, NM_001308248.1:c.1017G>A, XM_017002269.2:c.1098G>A, XM_017002269.1:c.1098G>A, XM_017002282.2:c.1098G>A, XM_017002282.1:c.1098G>A, XM_017002272.2:c.1098G>A, XM_017002272.1:c.1098G>A, XM_024449686.2:c.1017G>A, XM_024449686.1:c.1017G>A, XM_017002279.2:c.831G>A, XM_017002279.1:c.831G>A, XM_017002277.2:c.1017G>A, XM_017002277.1:c.1017G>A, XM_017002278.2:c.1098G>A, XM_017002278.1:c.1098G>A, XM_024449689.2:c.1098G>A, XM_024449689.1:c.1098G>A, XM_024449690.2:c.750G>A, XM_024449690.1:c.750G>A, XR_001737401.2:n.1114G>A, XR_001737401.1:n.1106G>A, NM_001377210.1:c.1008G>A, NM_001377213.1:c.966G>A, NM_001377211.1:c.885G>A, NM_001377212.1:c.885G>A, XM_047430040.1:c.1008G>A, XM_047430051.1:c.1008G>A, XM_017002274.1:c.966G>A, XM_017002275.1:c.966G>A, XM_047430054.1:c.1017G>A, XM_017002288.1:c.474G>A

                      11.

                      rs1468268395 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        1:92662721 (GRCh38)
                        1:93128278 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:92662720:A:G
                        Gene:
                        EVI5 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000008/1 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.92662721A>G, NC_000001.10:g.93128278A>G, XM_017002270.3:c.1594T>C, XM_017002270.2:c.1594T>C, XM_017002270.1:c.1594T>C, XM_017002273.3:c.1471T>C, XM_017002273.2:c.1471T>C, XM_017002273.1:c.1471T>C, XM_017002271.3:c.1522T>C, XM_017002271.2:c.1522T>C, XM_017002271.1:c.1522T>C, XM_017002286.3:c.979T>C, XM_017002286.2:c.979T>C, XM_017002286.1:c.979T>C, NM_001350198.2:c.1390T>C, NM_001350198.1:c.1390T>C, NM_001350197.2:c.1390T>C, NM_001350197.1:c.1390T>C, XM_017002269.2:c.1603T>C, XM_017002269.1:c.1603T>C, XM_017002282.2:c.1603T>C, XM_017002282.1:c.1603T>C, XM_017002272.2:c.1603T>C, XM_017002272.1:c.1603T>C, XM_024449686.2:c.1522T>C, XM_024449686.1:c.1522T>C, XM_017002279.2:c.1336T>C, XM_017002279.1:c.1336T>C, XM_024449690.2:c.1255T>C, XM_024449690.1:c.1255T>C, XR_001737401.2:n.1619T>C, XR_001737401.1:n.1611T>C, NM_001377213.1:c.1471T>C, NM_001377211.1:c.1390T>C, XM_047430040.1:c.1513T>C, XM_017002274.1:c.1471T>C, XM_017002275.1:c.1471T>C, XM_017002288.1:c.979T>C, XP_016857759.1:p.Trp532Arg, XP_016857762.1:p.Trp491Arg, XP_016857760.1:p.Trp508Arg, XP_016857775.1:p.Trp327Arg, NP_001337127.1:p.Trp464Arg, NP_001337126.1:p.Trp464Arg, XP_016857758.1:p.Trp535Arg, XP_016857771.1:p.Trp535Arg, XP_016857761.1:p.Trp535Arg, XP_024305454.1:p.Trp508Arg, XP_016857768.1:p.Trp446Arg, XP_024305458.1:p.Trp419Arg, NP_001364142.1:p.Trp491Arg, NP_001364140.1:p.Trp464Arg, XP_047285996.1:p.Trp505Arg, XP_016857763.1:p.Trp491Arg, XP_016857764.1:p.Trp491Arg, XP_016857777.1:p.Trp327Arg

                        12.

                        rs1466191982 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          1:92625816 (GRCh38)
                          1:93091373 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:92625815:T:C
                          Gene:
                          EVI5 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.92625816T>C, NC_000001.10:g.93091373T>C, NM_005665.6:c.1598A>G, NM_005665.5:c.1598A>G, NM_005665.4:c.1598A>G, XM_017002270.3:c.1850A>G, XM_017002270.2:c.1850A>G, XM_017002270.1:c.1850A>G, XM_017002273.3:c.1727A>G, XM_017002273.2:c.1727A>G, XM_017002273.1:c.1727A>G, XM_017002271.3:c.1778A>G, XM_017002271.2:c.1778A>G, XM_017002271.1:c.1778A>G, XM_017002286.3:c.1235A>G, XM_017002286.2:c.1235A>G, XM_017002286.1:c.1235A>G, NM_001350198.2:c.1646A>G, NM_001350198.1:c.1646A>G, NM_001350197.2:c.1646A>G, NM_001350197.1:c.1646A>G, NM_001308248.2:c.1631A>G, NM_001308248.1:c.1631A>G, XM_017002269.2:c.1859A>G, XM_017002269.1:c.1859A>G, XM_017002282.2:c.1859A>G, XM_017002282.1:c.1859A>G, XM_017002272.2:c.1859A>G, XM_017002272.1:c.1859A>G, XM_024449686.2:c.1778A>G, XM_024449686.1:c.1778A>G, XM_017002279.2:c.1592A>G, XM_017002279.1:c.1592A>G, XM_017002277.2:c.1631A>G, XM_017002277.1:c.1631A>G, XM_017002278.2:c.1712A>G, XM_017002278.1:c.1712A>G, XM_024449689.2:c.1679A>G, XM_024449689.1:c.1679A>G, XM_024449690.2:c.1511A>G, XM_024449690.1:c.1511A>G, NM_001377210.1:c.1622A>G, NM_001377213.1:c.1727A>G, NM_001377211.1:c.1604A>G, NM_001377212.1:c.1499A>G, XM_047430040.1:c.1769A>G, XM_047430051.1:c.1622A>G, XM_017002274.1:c.1727A>G, XM_017002275.1:c.1727A>G, XM_047430054.1:c.1598A>G, XM_017002288.1:c.1235A>G, NP_005656.4:p.Lys533Arg, XP_016857759.1:p.Lys617Arg, XP_016857762.1:p.Lys576Arg, XP_016857760.1:p.Lys593Arg, XP_016857775.1:p.Lys412Arg, NP_001337127.1:p.Lys549Arg, NP_001337126.1:p.Lys549Arg, NP_001295177.1:p.Lys544Arg, XP_016857758.1:p.Lys620Arg, XP_016857771.1:p.Lys620Arg, XP_016857761.1:p.Lys620Arg, XP_024305454.1:p.Lys593Arg, XP_016857768.1:p.Lys531Arg, XP_016857766.1:p.Lys544Arg, XP_016857767.1:p.Lys571Arg, XP_024305457.1:p.Lys560Arg, XP_024305458.1:p.Lys504Arg, NP_001364139.1:p.Lys541Arg, NP_001364142.1:p.Lys576Arg, NP_001364140.1:p.Lys535Arg, NP_001364141.1:p.Lys500Arg, XP_047285996.1:p.Lys590Arg, XP_047286007.1:p.Lys541Arg, XP_016857763.1:p.Lys576Arg, XP_016857764.1:p.Lys576Arg, XP_047286010.1:p.Lys533Arg, XP_016857777.1:p.Lys412Arg

                          13.

                          rs1465238441 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            1:92703537 (GRCh38)
                            1:93169094 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:92703536:T:C
                            Gene:
                            EVI5 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.92703537T>C, NC_000001.10:g.93169094T>C, NM_005665.6:c.554A>G, NM_005665.5:c.554A>G, NM_005665.4:c.554A>G, XM_017002270.3:c.626A>G, XM_017002270.2:c.626A>G, XM_017002270.1:c.626A>G, XM_017002273.3:c.503A>G, XM_017002273.2:c.503A>G, XM_017002273.1:c.503A>G, XM_017002271.3:c.554A>G, XM_017002271.2:c.554A>G, XM_017002271.1:c.554A>G, XM_017002286.3:c.11A>G, XM_017002286.2:c.11A>G, XM_017002286.1:c.11A>G, NM_001350198.2:c.422A>G, NM_001350198.1:c.422A>G, NM_001350197.2:c.422A>G, NM_001350197.1:c.422A>G, NM_001308248.2:c.554A>G, NM_001308248.1:c.554A>G, XM_017002269.2:c.635A>G, XM_017002269.1:c.635A>G, XM_017002282.2:c.635A>G, XM_017002282.1:c.635A>G, XM_017002272.2:c.635A>G, XM_017002272.1:c.635A>G, XM_024449686.2:c.554A>G, XM_024449686.1:c.554A>G, XM_017002279.2:c.368A>G, XM_017002279.1:c.368A>G, XM_017002277.2:c.554A>G, XM_017002277.1:c.554A>G, XM_017002278.2:c.635A>G, XM_017002278.1:c.635A>G, XM_024449689.2:c.635A>G, XM_024449689.1:c.635A>G, XM_024449690.2:c.287A>G, XM_024449690.1:c.287A>G, XR_001737401.2:n.651A>G, XR_001737401.1:n.643A>G, NM_001377210.1:c.545A>G, NM_001377213.1:c.503A>G, NM_001377211.1:c.422A>G, NM_001377212.1:c.422A>G, XM_047430040.1:c.545A>G, XM_047430051.1:c.545A>G, XM_017002274.1:c.503A>G, XM_017002275.1:c.503A>G, XM_047430054.1:c.554A>G, XM_017002288.1:c.11A>G, NP_005656.4:p.Lys185Arg, XP_016857759.1:p.Lys209Arg, XP_016857762.1:p.Lys168Arg, XP_016857760.1:p.Lys185Arg, XP_016857775.1:p.Lys4Arg, NP_001337127.1:p.Lys141Arg, NP_001337126.1:p.Lys141Arg, NP_001295177.1:p.Lys185Arg, XP_016857758.1:p.Lys212Arg, XP_016857771.1:p.Lys212Arg, XP_016857761.1:p.Lys212Arg, XP_024305454.1:p.Lys185Arg, XP_016857768.1:p.Lys123Arg, XP_016857766.1:p.Lys185Arg, XP_016857767.1:p.Lys212Arg, XP_024305457.1:p.Lys212Arg, XP_024305458.1:p.Lys96Arg, NP_001364139.1:p.Lys182Arg, NP_001364142.1:p.Lys168Arg, NP_001364140.1:p.Lys141Arg, NP_001364141.1:p.Lys141Arg, XP_047285996.1:p.Lys182Arg, XP_047286007.1:p.Lys182Arg, XP_016857763.1:p.Lys168Arg, XP_016857764.1:p.Lys168Arg, XP_047286010.1:p.Lys185Arg, XP_016857777.1:p.Lys4Arg

                            14.

                            rs1463584321 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              1:92607667 (GRCh38)
                              1:93073224 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:92607666:T:C
                              Gene:
                              EVI5 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000008/2 (GnomAD_exomes)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000001.11:g.92607667T>C, NC_000001.10:g.93073224T>C, NM_005665.6:c.1840A>G, NM_005665.5:c.1840A>G, NM_005665.4:c.1840A>G, XM_017002270.3:c.2092A>G, XM_017002270.2:c.2092A>G, XM_017002270.1:c.2092A>G, XM_017002273.3:c.1969A>G, XM_017002273.2:c.1969A>G, XM_017002273.1:c.1969A>G, XM_017002271.3:c.2020A>G, XM_017002271.2:c.2020A>G, XM_017002271.1:c.2020A>G, XM_017002286.3:c.1477A>G, XM_017002286.2:c.1477A>G, XM_017002286.1:c.1477A>G, NM_001350198.2:c.1888A>G, NM_001350198.1:c.1888A>G, NM_001350197.2:c.1888A>G, NM_001350197.1:c.1888A>G, NM_001308248.2:c.1873A>G, NM_001308248.1:c.1873A>G, XM_017002269.2:c.2101A>G, XM_017002269.1:c.2101A>G, XM_017002282.2:c.2101A>G, XM_017002282.1:c.2101A>G, XM_017002272.2:c.2101A>G, XM_017002272.1:c.2101A>G, XM_024449686.2:c.2020A>G, XM_024449686.1:c.2020A>G, XM_017002279.2:c.1834A>G, XM_017002279.1:c.1834A>G, XM_017002277.2:c.1873A>G, XM_017002277.1:c.1873A>G, XM_017002278.2:c.1954A>G, XM_017002278.1:c.1954A>G, XM_024449689.2:c.1921A>G, XM_024449689.1:c.1921A>G, XM_024449690.2:c.1753A>G, XM_024449690.1:c.1753A>G, NM_001377210.1:c.1864A>G, NM_001377213.1:c.1969A>G, NM_001377211.1:c.1846A>G, NM_001377212.1:c.1741A>G, XM_047430040.1:c.2011A>G, XM_047430051.1:c.1864A>G, XM_017002274.1:c.1969A>G, XM_017002275.1:c.1969A>G, XM_047430054.1:c.1840A>G, XM_017002288.1:c.1477A>G, NP_005656.4:p.Lys614Glu, XP_016857759.1:p.Lys698Glu, XP_016857762.1:p.Lys657Glu, XP_016857760.1:p.Lys674Glu, XP_016857775.1:p.Lys493Glu, NP_001337127.1:p.Lys630Glu, NP_001337126.1:p.Lys630Glu, NP_001295177.1:p.Lys625Glu, XP_016857758.1:p.Lys701Glu, XP_016857771.1:p.Lys701Glu, XP_016857761.1:p.Lys701Glu, XP_024305454.1:p.Lys674Glu, XP_016857768.1:p.Lys612Glu, XP_016857766.1:p.Lys625Glu, XP_016857767.1:p.Lys652Glu, XP_024305457.1:p.Lys641Glu, XP_024305458.1:p.Lys585Glu, NP_001364139.1:p.Lys622Glu, NP_001364142.1:p.Lys657Glu, NP_001364140.1:p.Lys616Glu, NP_001364141.1:p.Lys581Glu, XP_047285996.1:p.Lys671Glu, XP_047286007.1:p.Lys622Glu, XP_016857763.1:p.Lys657Glu, XP_016857764.1:p.Lys657Glu, XP_047286010.1:p.Lys614Glu, XP_016857777.1:p.Lys493Glu

                              15.

                              rs1462417360 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                G>- [Show Flanks]
                                Chromosome:
                                1:92513961 (GRCh38)
                                1:92979518 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:92513960:GG:G
                                Gene:
                                EVI5 (Varview)
                                Functional Consequence:
                                frameshift_variant,coding_sequence_variant,stop_gained,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                GG=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000001.11:g.92513962del, NC_000001.10:g.92979519del, NM_005665.6:c.2128del, NM_005665.5:c.2128del, NM_005665.4:c.2128del, XM_017002270.3:c.2479del, XM_017002270.2:c.2479del, XM_017002270.1:c.2479del, XM_017002273.3:c.2356del, XM_017002273.2:c.2356del, XM_017002273.1:c.2356del, XM_017002271.3:c.2407del, XM_017002271.2:c.2407del, XM_017002271.1:c.2407del, XM_017002286.3:c.1864del, XM_017002286.2:c.1864del, XM_017002286.1:c.1864del, NM_001350198.2:c.2186del, NM_001350198.1:c.2186del, NM_001350197.2:c.2176del, NM_001350197.1:c.2176del, NM_001308248.2:c.2161del, NM_001308248.1:c.2161del, XM_017002269.2:c.2488del, XM_017002269.1:c.2488del, XM_017002282.2:c.2399del, XM_017002282.1:c.2399del, XM_017002272.2:c.2389del, XM_017002272.1:c.2389del, XM_024449686.2:c.2308del, XM_024449686.1:c.2308del, XM_017002279.2:c.2221del, XM_017002279.1:c.2221del, XM_017002277.2:c.2260del, XM_017002277.1:c.2260del, XM_017002278.2:c.2242del, XM_017002278.1:c.2242del, XM_024449689.2:c.2209del, XM_024449689.1:c.2209del, XM_024449690.2:c.2140del, XM_024449690.1:c.2140del, NM_001377210.1:c.2152del, NM_001377213.1:c.2267del, NM_001377211.1:c.2038del, NM_001377212.1:c.2029del, XM_047430040.1:c.2398del, XM_047430051.1:c.2251del, XM_017002274.1:c.2356del, XM_017002275.1:c.2356del, XM_047430054.1:c.2227del, XM_017002288.1:c.1864del, NP_005656.4:p.Cys709_Leu710insTer, XP_016857759.1:p.Cys826_Leu827insTer, XP_016857762.1:p.Cys785_Leu786insTer, XP_016857760.1:p.Cys802_Leu803insTer, XP_016857775.1:p.Cys621_Leu622insTer, NP_001337127.1:p.Pro729fs, NP_001337126.1:p.Cys725_Leu726insTer, NP_001295177.1:p.Cys720_Leu721insTer, XP_016857758.1:p.Cys829_Leu830insTer, XP_016857771.1:p.Pro800fs, XP_016857761.1:p.Cys796_Leu797insTer, XP_024305454.1:p.Cys769_Leu770insTer, XP_016857768.1:p.Cys740_Leu741insTer, XP_016857766.1:p.Cys753_Leu754insTer, XP_016857767.1:p.Cys747_Leu748insTer, XP_024305457.1:p.Cys736_Leu737insTer, XP_024305458.1:p.Cys713_Leu714insTer, NP_001364139.1:p.Cys717_Leu718insTer, NP_001364142.1:p.Pro756fs, NP_001364140.1:p.Cys679_Leu680insTer, NP_001364141.1:p.Cys676_Leu677insTer, XP_047285996.1:p.Cys799_Leu800insTer, XP_047286007.1:p.Cys750_Leu751insTer, XP_016857763.1:p.Cys785_Leu786insTer, XP_016857764.1:p.Cys785_Leu786insTer, XP_047286010.1:p.Cys742_Leu743insTer, XP_016857777.1:p.Cys621_Leu622insTer

                                16.

                                rs1461426278 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  1:92624283 (GRCh38)
                                  1:93089840 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:92624282:C:A
                                  Gene:
                                  EVI5 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.92624283C>A, NC_000001.10:g.93089840C>A, NM_005665.6:c.1672G>T, NM_005665.5:c.1672G>T, NM_005665.4:c.1672G>T, XM_017002270.3:c.1924G>T, XM_017002270.2:c.1924G>T, XM_017002270.1:c.1924G>T, XM_017002273.3:c.1801G>T, XM_017002273.2:c.1801G>T, XM_017002273.1:c.1801G>T, XM_017002271.3:c.1852G>T, XM_017002271.2:c.1852G>T, XM_017002271.1:c.1852G>T, XM_017002286.3:c.1309G>T, XM_017002286.2:c.1309G>T, XM_017002286.1:c.1309G>T, NM_001350198.2:c.1720G>T, NM_001350198.1:c.1720G>T, NM_001350197.2:c.1720G>T, NM_001350197.1:c.1720G>T, NM_001308248.2:c.1705G>T, NM_001308248.1:c.1705G>T, XM_017002269.2:c.1933G>T, XM_017002269.1:c.1933G>T, XM_017002282.2:c.1933G>T, XM_017002282.1:c.1933G>T, XM_017002272.2:c.1933G>T, XM_017002272.1:c.1933G>T, XM_024449686.2:c.1852G>T, XM_024449686.1:c.1852G>T, XM_017002279.2:c.1666G>T, XM_017002279.1:c.1666G>T, XM_017002277.2:c.1705G>T, XM_017002277.1:c.1705G>T, XM_017002278.2:c.1786G>T, XM_017002278.1:c.1786G>T, XM_024449689.2:c.1753G>T, XM_024449689.1:c.1753G>T, XM_024449690.2:c.1585G>T, XM_024449690.1:c.1585G>T, NM_001377210.1:c.1696G>T, NM_001377213.1:c.1801G>T, NM_001377211.1:c.1678G>T, NM_001377212.1:c.1573G>T, XM_047430040.1:c.1843G>T, XM_047430051.1:c.1696G>T, XM_017002274.1:c.1801G>T, XM_017002275.1:c.1801G>T, XM_047430054.1:c.1672G>T, XM_017002288.1:c.1309G>T, NP_005656.4:p.Ala558Ser, XP_016857759.1:p.Ala642Ser, XP_016857762.1:p.Ala601Ser, XP_016857760.1:p.Ala618Ser, XP_016857775.1:p.Ala437Ser, NP_001337127.1:p.Ala574Ser, NP_001337126.1:p.Ala574Ser, NP_001295177.1:p.Ala569Ser, XP_016857758.1:p.Ala645Ser, XP_016857771.1:p.Ala645Ser, XP_016857761.1:p.Ala645Ser, XP_024305454.1:p.Ala618Ser, XP_016857768.1:p.Ala556Ser, XP_016857766.1:p.Ala569Ser, XP_016857767.1:p.Ala596Ser, XP_024305457.1:p.Ala585Ser, XP_024305458.1:p.Ala529Ser, NP_001364139.1:p.Ala566Ser, NP_001364142.1:p.Ala601Ser, NP_001364140.1:p.Ala560Ser, NP_001364141.1:p.Ala525Ser, XP_047285996.1:p.Ala615Ser, XP_047286007.1:p.Ala566Ser, XP_016857763.1:p.Ala601Ser, XP_016857764.1:p.Ala601Ser, XP_047286010.1:p.Ala558Ser, XP_016857777.1:p.Ala437Ser

                                  17.

                                  rs1460844854 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    1:92736445 (GRCh38)
                                    1:93202002 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:92736444:C:G
                                    Gene:
                                    EVI5 (Varview)
                                    Functional Consequence:
                                    missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000001.11:g.92736445C>G, NC_000001.10:g.93202002C>G, NM_005665.6:c.234G>C, NM_005665.5:c.234G>C, NM_005665.4:c.234G>C, XM_017002270.3:c.225G>C, XM_017002270.2:c.225G>C, XM_017002270.1:c.225G>C, XM_017002273.3:c.102G>C, XM_017002273.2:c.102G>C, XM_017002273.1:c.102G>C, XM_017002271.3:c.234G>C, XM_017002271.2:c.234G>C, XM_017002271.1:c.234G>C, NM_001350198.2:c.102G>C, NM_001350198.1:c.102G>C, NM_001350197.2:c.102G>C, NM_001350197.1:c.102G>C, NM_001308248.2:c.234G>C, NM_001308248.1:c.234G>C, XM_017002269.2:c.234G>C, XM_017002269.1:c.234G>C, XM_017002282.2:c.234G>C, XM_017002282.1:c.234G>C, XM_017002272.2:c.234G>C, XM_017002272.1:c.234G>C, XM_024449686.2:c.234G>C, XM_024449686.1:c.234G>C, XM_017002277.2:c.234G>C, XM_017002277.1:c.234G>C, XM_017002278.2:c.234G>C, XM_017002278.1:c.234G>C, XM_024449689.2:c.234G>C, XM_024449689.1:c.234G>C, XR_001737401.2:n.250G>C, XR_001737401.1:n.242G>C, NM_001377210.1:c.225G>C, NM_001377213.1:c.102G>C, NM_001377211.1:c.102G>C, NM_001377212.1:c.102G>C, XM_047430040.1:c.225G>C, XM_047430051.1:c.225G>C, XM_017002274.1:c.102G>C, XM_017002275.1:c.102G>C, XM_047430054.1:c.234G>C, NP_005656.4:p.Leu78Phe, XP_016857759.1:p.Leu75Phe, XP_016857762.1:p.Leu34Phe, XP_016857760.1:p.Leu78Phe, NP_001337127.1:p.Leu34Phe, NP_001337126.1:p.Leu34Phe, NP_001295177.1:p.Leu78Phe, XP_016857758.1:p.Leu78Phe, XP_016857771.1:p.Leu78Phe, XP_016857761.1:p.Leu78Phe, XP_024305454.1:p.Leu78Phe, XP_016857766.1:p.Leu78Phe, XP_016857767.1:p.Leu78Phe, XP_024305457.1:p.Leu78Phe, NP_001364139.1:p.Leu75Phe, NP_001364142.1:p.Leu34Phe, NP_001364140.1:p.Leu34Phe, NP_001364141.1:p.Leu34Phe, XP_047285996.1:p.Leu75Phe, XP_047286007.1:p.Leu75Phe, XP_016857763.1:p.Leu34Phe, XP_016857764.1:p.Leu34Phe, XP_047286010.1:p.Leu78Phe

                                    18.

                                    rs1460812371 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      1:92677158 (GRCh38)
                                      1:93142715 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:92677157:T:C
                                      Gene:
                                      EVI5 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000001.11:g.92677158T>C, NC_000001.10:g.93142715T>C, NM_005665.6:c.1290A>G, NM_005665.5:c.1290A>G, NM_005665.4:c.1290A>G, XM_017002270.3:c.1362A>G, XM_017002270.2:c.1362A>G, XM_017002270.1:c.1362A>G, XM_017002273.3:c.1239A>G, XM_017002273.2:c.1239A>G, XM_017002273.1:c.1239A>G, XM_017002271.3:c.1290A>G, XM_017002271.2:c.1290A>G, XM_017002271.1:c.1290A>G, XM_017002286.3:c.747A>G, XM_017002286.2:c.747A>G, XM_017002286.1:c.747A>G, NM_001350198.2:c.1158A>G, NM_001350198.1:c.1158A>G, NM_001350197.2:c.1158A>G, NM_001350197.1:c.1158A>G, NM_001308248.2:c.1290A>G, NM_001308248.1:c.1290A>G, XM_017002269.2:c.1371A>G, XM_017002269.1:c.1371A>G, XM_017002282.2:c.1371A>G, XM_017002282.1:c.1371A>G, XM_017002272.2:c.1371A>G, XM_017002272.1:c.1371A>G, XM_024449686.2:c.1290A>G, XM_024449686.1:c.1290A>G, XM_017002279.2:c.1104A>G, XM_017002279.1:c.1104A>G, XM_017002277.2:c.1290A>G, XM_017002277.1:c.1290A>G, XM_017002278.2:c.1371A>G, XM_017002278.1:c.1371A>G, XM_024449689.2:c.1371A>G, XM_024449689.1:c.1371A>G, XM_024449690.2:c.1023A>G, XM_024449690.1:c.1023A>G, XR_001737401.2:n.1387A>G, XR_001737401.1:n.1379A>G, NM_001377210.1:c.1281A>G, NM_001377213.1:c.1239A>G, NM_001377211.1:c.1158A>G, NM_001377212.1:c.1158A>G, XM_047430040.1:c.1281A>G, XM_047430051.1:c.1281A>G, XM_017002274.1:c.1239A>G, XM_017002275.1:c.1239A>G, XM_047430054.1:c.1290A>G, XM_017002288.1:c.747A>G

                                      19.

                                      rs1460590663 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G [Show Flanks]
                                        Chromosome:
                                        1:92703446 (GRCh38)
                                        1:93169003 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:92703445:A:C,NC_000001.11:92703445:A:G
                                        Gene:
                                        EVI5 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        NC_000001.11:g.92703446A>C, NC_000001.11:g.92703446A>G, NC_000001.10:g.93169003A>C, NC_000001.10:g.93169003A>G, NM_005665.6:c.645T>G, NM_005665.6:c.645T>C, NM_005665.5:c.645T>G, NM_005665.5:c.645T>C, NM_005665.4:c.645T>G, NM_005665.4:c.645T>C, XM_017002270.3:c.717T>G, XM_017002270.3:c.717T>C, XM_017002270.2:c.717T>G, XM_017002270.2:c.717T>C, XM_017002270.1:c.717T>G, XM_017002270.1:c.717T>C, XM_017002273.3:c.594T>G, XM_017002273.3:c.594T>C, XM_017002273.2:c.594T>G, XM_017002273.2:c.594T>C, XM_017002273.1:c.594T>G, XM_017002273.1:c.594T>C, XM_017002271.3:c.645T>G, XM_017002271.3:c.645T>C, XM_017002271.2:c.645T>G, XM_017002271.2:c.645T>C, XM_017002271.1:c.645T>G, XM_017002271.1:c.645T>C, XM_017002286.3:c.102T>G, XM_017002286.3:c.102T>C, XM_017002286.2:c.102T>G, XM_017002286.2:c.102T>C, XM_017002286.1:c.102T>G, XM_017002286.1:c.102T>C, NM_001350198.2:c.513T>G, NM_001350198.2:c.513T>C, NM_001350198.1:c.513T>G, NM_001350198.1:c.513T>C, NM_001350197.2:c.513T>G, NM_001350197.2:c.513T>C, NM_001350197.1:c.513T>G, NM_001350197.1:c.513T>C, NM_001308248.2:c.645T>G, NM_001308248.2:c.645T>C, NM_001308248.1:c.645T>G, NM_001308248.1:c.645T>C, XM_017002269.2:c.726T>G, XM_017002269.2:c.726T>C, XM_017002269.1:c.726T>G, XM_017002269.1:c.726T>C, XM_017002282.2:c.726T>G, XM_017002282.2:c.726T>C, XM_017002282.1:c.726T>G, XM_017002282.1:c.726T>C, XM_017002272.2:c.726T>G, XM_017002272.2:c.726T>C, XM_017002272.1:c.726T>G, XM_017002272.1:c.726T>C, XM_024449686.2:c.645T>G, XM_024449686.2:c.645T>C, XM_024449686.1:c.645T>G, XM_024449686.1:c.645T>C, XM_017002279.2:c.459T>G, XM_017002279.2:c.459T>C, XM_017002279.1:c.459T>G, XM_017002279.1:c.459T>C, XM_017002277.2:c.645T>G, XM_017002277.2:c.645T>C, XM_017002277.1:c.645T>G, XM_017002277.1:c.645T>C, XM_017002278.2:c.726T>G, XM_017002278.2:c.726T>C, XM_017002278.1:c.726T>G, XM_017002278.1:c.726T>C, XM_024449689.2:c.726T>G, XM_024449689.2:c.726T>C, XM_024449689.1:c.726T>G, XM_024449689.1:c.726T>C, XM_024449690.2:c.378T>G, XM_024449690.2:c.378T>C, XM_024449690.1:c.378T>G, XM_024449690.1:c.378T>C, XR_001737401.2:n.742T>G, XR_001737401.2:n.742T>C, XR_001737401.1:n.734T>G, XR_001737401.1:n.734T>C, NM_001377210.1:c.636T>G, NM_001377210.1:c.636T>C, NM_001377213.1:c.594T>G, NM_001377213.1:c.594T>C, NM_001377211.1:c.513T>G, NM_001377211.1:c.513T>C, NM_001377212.1:c.513T>G, NM_001377212.1:c.513T>C, XM_047430040.1:c.636T>G, XM_047430040.1:c.636T>C, XM_047430051.1:c.636T>G, XM_047430051.1:c.636T>C, XM_017002274.1:c.594T>G, XM_017002274.1:c.594T>C, XM_017002275.1:c.594T>G, XM_017002275.1:c.594T>C, XM_047430054.1:c.645T>G, XM_047430054.1:c.645T>C, XM_017002288.1:c.102T>G, XM_017002288.1:c.102T>C, NP_005656.4:p.Phe215Leu, XP_016857759.1:p.Phe239Leu, XP_016857762.1:p.Phe198Leu, XP_016857760.1:p.Phe215Leu, XP_016857775.1:p.Phe34Leu, NP_001337127.1:p.Phe171Leu, NP_001337126.1:p.Phe171Leu, NP_001295177.1:p.Phe215Leu, XP_016857758.1:p.Phe242Leu, XP_016857771.1:p.Phe242Leu, XP_016857761.1:p.Phe242Leu, XP_024305454.1:p.Phe215Leu, XP_016857768.1:p.Phe153Leu, XP_016857766.1:p.Phe215Leu, XP_016857767.1:p.Phe242Leu, XP_024305457.1:p.Phe242Leu, XP_024305458.1:p.Phe126Leu, NP_001364139.1:p.Phe212Leu, NP_001364142.1:p.Phe198Leu, NP_001364140.1:p.Phe171Leu, NP_001364141.1:p.Phe171Leu, XP_047285996.1:p.Phe212Leu, XP_047286007.1:p.Phe212Leu, XP_016857763.1:p.Phe198Leu, XP_016857764.1:p.Phe198Leu, XP_047286010.1:p.Phe215Leu, XP_016857777.1:p.Phe34Leu

                                        20.

                                        rs1460406298 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          1:92662723 (GRCh38)
                                          1:93128280 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:92662722:T:C
                                          Gene:
                                          EVI5 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000001.11:g.92662723T>C, NC_000001.10:g.93128280T>C, XM_017002270.3:c.1592A>G, XM_017002270.2:c.1592A>G, XM_017002270.1:c.1592A>G, XM_017002273.3:c.1469A>G, XM_017002273.2:c.1469A>G, XM_017002273.1:c.1469A>G, XM_017002271.3:c.1520A>G, XM_017002271.2:c.1520A>G, XM_017002271.1:c.1520A>G, XM_017002286.3:c.977A>G, XM_017002286.2:c.977A>G, XM_017002286.1:c.977A>G, NM_001350198.2:c.1388A>G, NM_001350198.1:c.1388A>G, NM_001350197.2:c.1388A>G, NM_001350197.1:c.1388A>G, XM_017002269.2:c.1601A>G, XM_017002269.1:c.1601A>G, XM_017002282.2:c.1601A>G, XM_017002282.1:c.1601A>G, XM_017002272.2:c.1601A>G, XM_017002272.1:c.1601A>G, XM_024449686.2:c.1520A>G, XM_024449686.1:c.1520A>G, XM_017002279.2:c.1334A>G, XM_017002279.1:c.1334A>G, XM_024449690.2:c.1253A>G, XM_024449690.1:c.1253A>G, XR_001737401.2:n.1617A>G, XR_001737401.1:n.1609A>G, NM_001377213.1:c.1469A>G, NM_001377211.1:c.1388A>G, XM_047430040.1:c.1511A>G, XM_017002274.1:c.1469A>G, XM_017002275.1:c.1469A>G, XM_017002288.1:c.977A>G, XP_016857759.1:p.Gln531Arg, XP_016857762.1:p.Gln490Arg, XP_016857760.1:p.Gln507Arg, XP_016857775.1:p.Gln326Arg, NP_001337127.1:p.Gln463Arg, NP_001337126.1:p.Gln463Arg, XP_016857758.1:p.Gln534Arg, XP_016857771.1:p.Gln534Arg, XP_016857761.1:p.Gln534Arg, XP_024305454.1:p.Gln507Arg, XP_016857768.1:p.Gln445Arg, XP_024305458.1:p.Gln418Arg, NP_001364142.1:p.Gln490Arg, NP_001364140.1:p.Gln463Arg, XP_047285996.1:p.Gln504Arg, XP_016857763.1:p.Gln490Arg, XP_016857764.1:p.Gln490Arg, XP_016857777.1:p.Gln326Arg

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