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Items: 1 to 20 of 1000

1.

rs1490419416 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    10:96158756 (GRCh38)
    10:97918513 (GRCh37)
    Canonical SPDI:
    NC_000010.11:96158755:C:G
    Gene:
    ZNF518A (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,intron_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_000010.11:g.96158756C>G, NW_003871070.1:g.120858G>C, NG_033267.2:g.34537C>G, NM_014803.4:c.2434C>G, NM_014803.3:c.2434C>G, NM_001330736.2:c.2434C>G, NM_001330736.1:c.2434C>G, NM_001278524.2:c.2434C>G, NM_001278524.1:c.2434C>G, NM_001278525.2:c.2434C>G, NM_001278525.1:c.2434C>G, NM_001330732.2:c.2434C>G, NM_001330732.1:c.2434C>G, NM_001278526.2:c.844C>G, NM_001278526.1:c.844C>G, NM_001330733.1:c.2434C>G, NM_001330738.1:c.2434C>G, NM_001330737.1:c.2434C>G, NM_001330735.1:c.2434C>G, NM_001330734.1:c.2434C>G, NC_000010.10:g.97918513C>G, XM_011540413.4:c.2434C>G, XM_011540413.3:c.2434C>G, XM_011540413.2:c.2434C>G, XM_011540413.1:c.2434C>G, XM_017016994.3:c.2434C>G, XM_017016994.2:c.2434C>G, XM_017016994.1:c.2434C>G, XM_011540410.3:c.2434C>G, XM_011540410.2:c.2434C>G, XM_011540410.1:c.2434C>G, XM_011540406.3:c.2434C>G, XM_011540406.2:c.2434C>G, XM_011540406.1:c.2434C>G, XM_011540415.3:c.2434C>G, XM_011540415.2:c.2434C>G, XM_011540415.1:c.2434C>G, XM_011540420.3:c.2434C>G, XM_011540420.2:c.2434C>G, XM_011540420.1:c.2434C>G, XM_011540419.3:c.2434C>G, XM_011540419.2:c.2434C>G, XM_011540419.1:c.2434C>G, XM_024448267.2:c.2434C>G, XM_024448267.1:c.2434C>G, XM_017016986.2:c.2434C>G, XM_017016986.1:c.2434C>G, XM_024448265.2:c.2434C>G, XM_024448265.1:c.2434C>G, XM_024448269.2:c.2434C>G, XM_024448269.1:c.2434C>G, XM_017016989.2:c.2434C>G, XM_017016989.1:c.2434C>G, XM_047426073.1:c.2434C>G, XM_047426045.1:c.2434C>G, XM_047426058.1:c.2434C>G, XM_047426056.1:c.2434C>G, XM_047426054.1:c.2434C>G, XM_047426055.1:c.2434C>G, XM_047426046.1:c.2434C>G, XM_047426066.1:c.2434C>G, XM_047426061.1:c.2434C>G, XM_047426064.1:c.2434C>G, XM_047426044.1:c.2434C>G, XM_047426059.1:c.2434C>G, XM_047426062.1:c.2434C>G, XM_047426052.1:c.2434C>G, XM_047426063.1:c.2434C>G, XM_047426049.1:c.2434C>G, XM_047426070.1:c.2434C>G, XM_047426048.1:c.2434C>G, XM_047426051.1:c.2434C>G, XM_047426060.1:c.2434C>G, XM_047426047.1:c.2434C>G, XM_047426050.1:c.2434C>G, XM_047426068.1:c.2434C>G, XM_047426069.1:c.2434C>G, XM_047426065.1:c.2434C>G, XM_047426057.1:c.2434C>G, XM_047426067.1:c.2434C>G, XM_047426053.1:c.2434C>G, XM_047426072.1:c.2434C>G, XM_047426071.1:c.2434C>G, NP_055618.2:p.His812Asp, NP_001317665.1:p.His812Asp, NP_001265453.1:p.His812Asp, NP_001265454.1:p.His812Asp, NP_001317661.1:p.His812Asp, NP_001265455.1:p.His282Asp, NP_001317662.1:p.His812Asp, NP_001317667.1:p.His812Asp, NP_001317666.1:p.His812Asp, NP_001317664.1:p.His812Asp, NP_001317663.1:p.His812Asp, XP_011538715.1:p.His812Asp, XP_016872483.1:p.His812Asp, XP_011538712.1:p.His812Asp, XP_011538708.1:p.His812Asp, XP_011538717.1:p.His812Asp, XP_011538722.1:p.His812Asp, XP_011538721.1:p.His812Asp, XP_024304035.1:p.His812Asp, XP_016872475.1:p.His812Asp, XP_024304033.1:p.His812Asp, XP_024304037.1:p.His812Asp, XP_016872478.1:p.His812Asp, XP_047282029.1:p.His812Asp, XP_047282001.1:p.His812Asp, XP_047282014.1:p.His812Asp, XP_047282012.1:p.His812Asp, XP_047282010.1:p.His812Asp, XP_047282011.1:p.His812Asp, XP_047282002.1:p.His812Asp, XP_047282022.1:p.His812Asp, XP_047282017.1:p.His812Asp, XP_047282020.1:p.His812Asp, XP_047282000.1:p.His812Asp, XP_047282015.1:p.His812Asp, XP_047282018.1:p.His812Asp, XP_047282008.1:p.His812Asp, XP_047282019.1:p.His812Asp, XP_047282005.1:p.His812Asp, XP_047282026.1:p.His812Asp, XP_047282004.1:p.His812Asp, XP_047282007.1:p.His812Asp, XP_047282016.1:p.His812Asp, XP_047282003.1:p.His812Asp, XP_047282006.1:p.His812Asp, XP_047282024.1:p.His812Asp, XP_047282025.1:p.His812Asp, XP_047282021.1:p.His812Asp, XP_047282013.1:p.His812Asp, XP_047282023.1:p.His812Asp, XP_047282009.1:p.His812Asp, XP_047282028.1:p.His812Asp, XP_047282027.1:p.His812Asp

    2.

    rs1490090852 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      10:96157784 (GRCh38)
      10:97917541 (GRCh37)
      Canonical SPDI:
      NC_000010.11:96157783:A:G
      Gene:
      ZNF518A (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,intron_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_000010.11:g.96157784A>G, NW_003871070.1:g.121830T>C, NG_033267.2:g.33565A>G, NM_014803.4:c.1462A>G, NM_014803.3:c.1462A>G, NM_001330736.2:c.1462A>G, NM_001330736.1:c.1462A>G, NM_001278524.2:c.1462A>G, NM_001278524.1:c.1462A>G, NM_001278525.2:c.1462A>G, NM_001278525.1:c.1462A>G, NM_001330732.2:c.1462A>G, NM_001330732.1:c.1462A>G, NM_001330733.1:c.1462A>G, NM_001330738.1:c.1462A>G, NM_001330737.1:c.1462A>G, NM_001330735.1:c.1462A>G, NM_001330734.1:c.1462A>G, NC_000010.10:g.97917541A>G, XM_011540413.4:c.1462A>G, XM_011540413.3:c.1462A>G, XM_011540413.2:c.1462A>G, XM_011540413.1:c.1462A>G, XM_017016994.3:c.1462A>G, XM_017016994.2:c.1462A>G, XM_017016994.1:c.1462A>G, XM_011540410.3:c.1462A>G, XM_011540410.2:c.1462A>G, XM_011540410.1:c.1462A>G, XM_011540406.3:c.1462A>G, XM_011540406.2:c.1462A>G, XM_011540406.1:c.1462A>G, XM_011540415.3:c.1462A>G, XM_011540415.2:c.1462A>G, XM_011540415.1:c.1462A>G, XM_011540420.3:c.1462A>G, XM_011540420.2:c.1462A>G, XM_011540420.1:c.1462A>G, XM_011540419.3:c.1462A>G, XM_011540419.2:c.1462A>G, XM_011540419.1:c.1462A>G, XM_024448267.2:c.1462A>G, XM_024448267.1:c.1462A>G, XM_017016986.2:c.1462A>G, XM_017016986.1:c.1462A>G, XM_024448265.2:c.1462A>G, XM_024448265.1:c.1462A>G, XM_024448269.2:c.1462A>G, XM_024448269.1:c.1462A>G, XM_017016989.2:c.1462A>G, XM_017016989.1:c.1462A>G, XM_047426073.1:c.1462A>G, XM_047426045.1:c.1462A>G, XM_047426058.1:c.1462A>G, XM_047426056.1:c.1462A>G, XM_047426054.1:c.1462A>G, XM_047426055.1:c.1462A>G, XM_047426046.1:c.1462A>G, XM_047426066.1:c.1462A>G, XM_047426061.1:c.1462A>G, XM_047426064.1:c.1462A>G, XM_047426044.1:c.1462A>G, XM_047426059.1:c.1462A>G, XM_047426062.1:c.1462A>G, XM_047426052.1:c.1462A>G, XM_047426063.1:c.1462A>G, XM_047426049.1:c.1462A>G, XM_047426070.1:c.1462A>G, XM_047426048.1:c.1462A>G, XM_047426051.1:c.1462A>G, XM_047426060.1:c.1462A>G, XM_047426047.1:c.1462A>G, XM_047426050.1:c.1462A>G, XM_047426068.1:c.1462A>G, XM_047426069.1:c.1462A>G, XM_047426065.1:c.1462A>G, XM_047426057.1:c.1462A>G, XM_047426067.1:c.1462A>G, XM_047426053.1:c.1462A>G, XM_047426072.1:c.1462A>G, XM_047426071.1:c.1462A>G, NP_055618.2:p.Thr488Ala, NP_001317665.1:p.Thr488Ala, NP_001265453.1:p.Thr488Ala, NP_001265454.1:p.Thr488Ala, NP_001317661.1:p.Thr488Ala, NP_001317662.1:p.Thr488Ala, NP_001317667.1:p.Thr488Ala, NP_001317666.1:p.Thr488Ala, NP_001317664.1:p.Thr488Ala, NP_001317663.1:p.Thr488Ala, XP_011538715.1:p.Thr488Ala, XP_016872483.1:p.Thr488Ala, XP_011538712.1:p.Thr488Ala, XP_011538708.1:p.Thr488Ala, XP_011538717.1:p.Thr488Ala, XP_011538722.1:p.Thr488Ala, XP_011538721.1:p.Thr488Ala, XP_024304035.1:p.Thr488Ala, XP_016872475.1:p.Thr488Ala, XP_024304033.1:p.Thr488Ala, XP_024304037.1:p.Thr488Ala, XP_016872478.1:p.Thr488Ala, XP_047282029.1:p.Thr488Ala, XP_047282001.1:p.Thr488Ala, XP_047282014.1:p.Thr488Ala, XP_047282012.1:p.Thr488Ala, XP_047282010.1:p.Thr488Ala, XP_047282011.1:p.Thr488Ala, XP_047282002.1:p.Thr488Ala, XP_047282022.1:p.Thr488Ala, XP_047282017.1:p.Thr488Ala, XP_047282020.1:p.Thr488Ala, XP_047282000.1:p.Thr488Ala, XP_047282015.1:p.Thr488Ala, XP_047282018.1:p.Thr488Ala, XP_047282008.1:p.Thr488Ala, XP_047282019.1:p.Thr488Ala, XP_047282005.1:p.Thr488Ala, XP_047282026.1:p.Thr488Ala, XP_047282004.1:p.Thr488Ala, XP_047282007.1:p.Thr488Ala, XP_047282016.1:p.Thr488Ala, XP_047282003.1:p.Thr488Ala, XP_047282006.1:p.Thr488Ala, XP_047282024.1:p.Thr488Ala, XP_047282025.1:p.Thr488Ala, XP_047282021.1:p.Thr488Ala, XP_047282013.1:p.Thr488Ala, XP_047282023.1:p.Thr488Ala, XP_047282009.1:p.Thr488Ala, XP_047282028.1:p.Thr488Ala, XP_047282027.1:p.Thr488Ala

      3.

      rs1490064884 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GGTATTAATGTG>- [Show Flanks]
        Chromosome:
        10:96158861 (GRCh38)
        10:97918618 (GRCh37)
        Canonical SPDI:
        NC_000010.11:96158856:TGTGGGTATTAATGTG:TGTG
        Gene:
        ZNF518A (Varview)
        Functional Consequence:
        inframe_deletion,coding_sequence_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        TGTG=0./0 (ALFA)
        -=0.000008/2 (TOPMED)
        HGVS:
        NC_000010.11:g.96158861_96158872del, NW_003871070.1:g.120746_120757del, NG_033267.2:g.34642_34653del, NM_014803.4:c.2539_2550del, NM_014803.3:c.2539_2550del, NM_001330736.2:c.2539_2550del, NM_001330736.1:c.2539_2550del, NM_001278524.2:c.2539_2550del, NM_001278524.1:c.2539_2550del, NM_001278525.2:c.2539_2550del, NM_001278525.1:c.2539_2550del, NM_001330732.2:c.2539_2550del, NM_001330732.1:c.2539_2550del, NM_001278526.2:c.949_960del, NM_001278526.1:c.949_960del, NM_001330733.1:c.2539_2550del, NM_001330738.1:c.2539_2550del, NM_001330737.1:c.2539_2550del, NM_001330735.1:c.2539_2550del, NM_001330734.1:c.2539_2550del, NC_000010.10:g.97918618_97918629del, XM_011540413.4:c.2539_2550del, XM_011540413.3:c.2539_2550del, XM_011540413.2:c.2539_2550del, XM_011540413.1:c.2539_2550del, XM_017016994.3:c.2539_2550del, XM_017016994.2:c.2539_2550del, XM_017016994.1:c.2539_2550del, XM_011540410.3:c.2539_2550del, XM_011540410.2:c.2539_2550del, XM_011540410.1:c.2539_2550del, XM_011540406.3:c.2539_2550del, XM_011540406.2:c.2539_2550del, XM_011540406.1:c.2539_2550del, XM_011540415.3:c.2539_2550del, XM_011540415.2:c.2539_2550del, XM_011540415.1:c.2539_2550del, XM_011540420.3:c.2539_2550del, XM_011540420.2:c.2539_2550del, XM_011540420.1:c.2539_2550del, XM_011540419.3:c.2539_2550del, XM_011540419.2:c.2539_2550del, XM_011540419.1:c.2539_2550del, XM_024448267.2:c.2539_2550del, XM_024448267.1:c.2539_2550del, XM_017016986.2:c.2539_2550del, XM_017016986.1:c.2539_2550del, XM_024448265.2:c.2539_2550del, XM_024448265.1:c.2539_2550del, XM_024448269.2:c.2539_2550del, XM_024448269.1:c.2539_2550del, XM_017016989.2:c.2539_2550del, XM_017016989.1:c.2539_2550del, XM_047426073.1:c.2539_2550del, XM_047426045.1:c.2539_2550del, XM_047426058.1:c.2539_2550del, XM_047426056.1:c.2539_2550del, XM_047426054.1:c.2539_2550del, XM_047426055.1:c.2539_2550del, XM_047426046.1:c.2539_2550del, XM_047426066.1:c.2539_2550del, XM_047426061.1:c.2539_2550del, XM_047426064.1:c.2539_2550del, XM_047426044.1:c.2539_2550del, XM_047426059.1:c.2539_2550del, XM_047426062.1:c.2539_2550del, XM_047426052.1:c.2539_2550del, XM_047426063.1:c.2539_2550del, XM_047426049.1:c.2539_2550del, XM_047426070.1:c.2539_2550del, XM_047426048.1:c.2539_2550del, XM_047426051.1:c.2539_2550del, XM_047426060.1:c.2539_2550del, XM_047426047.1:c.2539_2550del, XM_047426050.1:c.2539_2550del, XM_047426068.1:c.2539_2550del, XM_047426069.1:c.2539_2550del, XM_047426065.1:c.2539_2550del, XM_047426057.1:c.2539_2550del, XM_047426067.1:c.2539_2550del, XM_047426053.1:c.2539_2550del, XM_047426072.1:c.2539_2550del, XM_047426071.1:c.2539_2550del, NP_055618.2:p.Gly847_Val850del, NP_001317665.1:p.Gly847_Val850del, NP_001265453.1:p.Gly847_Val850del, NP_001265454.1:p.Gly847_Val850del, NP_001317661.1:p.Gly847_Val850del, NP_001265455.1:p.Gly317_Val320del, NP_001317662.1:p.Gly847_Val850del, NP_001317667.1:p.Gly847_Val850del, NP_001317666.1:p.Gly847_Val850del, NP_001317664.1:p.Gly847_Val850del, NP_001317663.1:p.Gly847_Val850del, XP_011538715.1:p.Gly847_Val850del, XP_016872483.1:p.Gly847_Val850del, XP_011538712.1:p.Gly847_Val850del, XP_011538708.1:p.Gly847_Val850del, XP_011538717.1:p.Gly847_Val850del, XP_011538722.1:p.Gly847_Val850del, XP_011538721.1:p.Gly847_Val850del, XP_024304035.1:p.Gly847_Val850del, XP_016872475.1:p.Gly847_Val850del, XP_024304033.1:p.Gly847_Val850del, XP_024304037.1:p.Gly847_Val850del, XP_016872478.1:p.Gly847_Val850del, XP_047282029.1:p.Gly847_Val850del, XP_047282001.1:p.Gly847_Val850del, XP_047282014.1:p.Gly847_Val850del, XP_047282012.1:p.Gly847_Val850del, XP_047282010.1:p.Gly847_Val850del, XP_047282011.1:p.Gly847_Val850del, XP_047282002.1:p.Gly847_Val850del, XP_047282022.1:p.Gly847_Val850del, XP_047282017.1:p.Gly847_Val850del, XP_047282020.1:p.Gly847_Val850del, XP_047282000.1:p.Gly847_Val850del, XP_047282015.1:p.Gly847_Val850del, XP_047282018.1:p.Gly847_Val850del, XP_047282008.1:p.Gly847_Val850del, XP_047282019.1:p.Gly847_Val850del, XP_047282005.1:p.Gly847_Val850del, XP_047282026.1:p.Gly847_Val850del, XP_047282004.1:p.Gly847_Val850del, XP_047282007.1:p.Gly847_Val850del, XP_047282016.1:p.Gly847_Val850del, XP_047282003.1:p.Gly847_Val850del, XP_047282006.1:p.Gly847_Val850del, XP_047282024.1:p.Gly847_Val850del, XP_047282025.1:p.Gly847_Val850del, XP_047282021.1:p.Gly847_Val850del, XP_047282013.1:p.Gly847_Val850del, XP_047282023.1:p.Gly847_Val850del, XP_047282009.1:p.Gly847_Val850del, XP_047282028.1:p.Gly847_Val850del, XP_047282027.1:p.Gly847_Val850del

        4.

        rs1489408330 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C,T [Show Flanks]
          Chromosome:
          10:96157283 (GRCh38)
          10:97917040 (GRCh37)
          Canonical SPDI:
          NC_000010.11:96157282:G:A,NC_000010.11:96157282:G:C,NC_000010.11:96157282:G:T
          Gene:
          ZNF518A (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000010.11:g.96157283G>A, NC_000010.11:g.96157283G>C, NC_000010.11:g.96157283G>T, NW_003871070.1:g.122331C>T, NW_003871070.1:g.122331C>G, NW_003871070.1:g.122331C>A, NG_033267.2:g.33064G>A, NG_033267.2:g.33064G>C, NG_033267.2:g.33064G>T, NM_014803.4:c.961G>A, NM_014803.4:c.961G>C, NM_014803.4:c.961G>T, NM_014803.3:c.961G>A, NM_014803.3:c.961G>C, NM_014803.3:c.961G>T, NM_001330736.2:c.961G>A, NM_001330736.2:c.961G>C, NM_001330736.2:c.961G>T, NM_001330736.1:c.961G>A, NM_001330736.1:c.961G>C, NM_001330736.1:c.961G>T, NM_001278524.2:c.961G>A, NM_001278524.2:c.961G>C, NM_001278524.2:c.961G>T, NM_001278524.1:c.961G>A, NM_001278524.1:c.961G>C, NM_001278524.1:c.961G>T, NM_001278525.2:c.961G>A, NM_001278525.2:c.961G>C, NM_001278525.2:c.961G>T, NM_001278525.1:c.961G>A, NM_001278525.1:c.961G>C, NM_001278525.1:c.961G>T, NM_001330732.2:c.961G>A, NM_001330732.2:c.961G>C, NM_001330732.2:c.961G>T, NM_001330732.1:c.961G>A, NM_001330732.1:c.961G>C, NM_001330732.1:c.961G>T, NM_001330733.1:c.961G>A, NM_001330733.1:c.961G>C, NM_001330733.1:c.961G>T, NM_001330738.1:c.961G>A, NM_001330738.1:c.961G>C, NM_001330738.1:c.961G>T, NM_001330737.1:c.961G>A, NM_001330737.1:c.961G>C, NM_001330737.1:c.961G>T, NM_001330735.1:c.961G>A, NM_001330735.1:c.961G>C, NM_001330735.1:c.961G>T, NM_001330734.1:c.961G>A, NM_001330734.1:c.961G>C, NM_001330734.1:c.961G>T, NC_000010.10:g.97917040G>A, NC_000010.10:g.97917040G>C, NC_000010.10:g.97917040G>T, XM_011540413.4:c.961G>A, XM_011540413.4:c.961G>C, XM_011540413.4:c.961G>T, XM_011540413.3:c.961G>A, XM_011540413.3:c.961G>C, XM_011540413.3:c.961G>T, XM_011540413.2:c.961G>A, XM_011540413.2:c.961G>C, XM_011540413.2:c.961G>T, XM_011540413.1:c.961G>A, XM_011540413.1:c.961G>C, XM_011540413.1:c.961G>T, XM_017016994.3:c.961G>A, XM_017016994.3:c.961G>C, XM_017016994.3:c.961G>T, XM_017016994.2:c.961G>A, XM_017016994.2:c.961G>C, XM_017016994.2:c.961G>T, XM_017016994.1:c.961G>A, XM_017016994.1:c.961G>C, XM_017016994.1:c.961G>T, XM_011540410.3:c.961G>A, XM_011540410.3:c.961G>C, XM_011540410.3:c.961G>T, XM_011540410.2:c.961G>A, XM_011540410.2:c.961G>C, XM_011540410.2:c.961G>T, XM_011540410.1:c.961G>A, XM_011540410.1:c.961G>C, XM_011540410.1:c.961G>T, XM_011540406.3:c.961G>A, XM_011540406.3:c.961G>C, XM_011540406.3:c.961G>T, XM_011540406.2:c.961G>A, XM_011540406.2:c.961G>C, XM_011540406.2:c.961G>T, XM_011540406.1:c.961G>A, XM_011540406.1:c.961G>C, XM_011540406.1:c.961G>T, XM_011540415.3:c.961G>A, XM_011540415.3:c.961G>C, XM_011540415.3:c.961G>T, XM_011540415.2:c.961G>A, XM_011540415.2:c.961G>C, XM_011540415.2:c.961G>T, XM_011540415.1:c.961G>A, XM_011540415.1:c.961G>C, XM_011540415.1:c.961G>T, XM_011540420.3:c.961G>A, XM_011540420.3:c.961G>C, XM_011540420.3:c.961G>T, XM_011540420.2:c.961G>A, XM_011540420.2:c.961G>C, XM_011540420.2:c.961G>T, XM_011540420.1:c.961G>A, XM_011540420.1:c.961G>C, XM_011540420.1:c.961G>T, XM_011540419.3:c.961G>A, XM_011540419.3:c.961G>C, XM_011540419.3:c.961G>T, XM_011540419.2:c.961G>A, XM_011540419.2:c.961G>C, XM_011540419.2:c.961G>T, XM_011540419.1:c.961G>A, XM_011540419.1:c.961G>C, XM_011540419.1:c.961G>T, XM_024448267.2:c.961G>A, XM_024448267.2:c.961G>C, XM_024448267.2:c.961G>T, XM_024448267.1:c.961G>A, XM_024448267.1:c.961G>C, XM_024448267.1:c.961G>T, XM_017016986.2:c.961G>A, XM_017016986.2:c.961G>C, XM_017016986.2:c.961G>T, XM_017016986.1:c.961G>A, XM_017016986.1:c.961G>C, XM_017016986.1:c.961G>T, XM_024448265.2:c.961G>A, XM_024448265.2:c.961G>C, XM_024448265.2:c.961G>T, XM_024448265.1:c.961G>A, XM_024448265.1:c.961G>C, XM_024448265.1:c.961G>T, XM_024448269.2:c.961G>A, XM_024448269.2:c.961G>C, XM_024448269.2:c.961G>T, XM_024448269.1:c.961G>A, XM_024448269.1:c.961G>C, XM_024448269.1:c.961G>T, XM_017016989.2:c.961G>A, XM_017016989.2:c.961G>C, XM_017016989.2:c.961G>T, XM_017016989.1:c.961G>A, XM_017016989.1:c.961G>C, XM_017016989.1:c.961G>T, XM_047426073.1:c.961G>A, XM_047426073.1:c.961G>C, XM_047426073.1:c.961G>T, XM_047426045.1:c.961G>A, XM_047426045.1:c.961G>C, XM_047426045.1:c.961G>T, XM_047426058.1:c.961G>A, XM_047426058.1:c.961G>C, XM_047426058.1:c.961G>T, XM_047426056.1:c.961G>A, XM_047426056.1:c.961G>C, XM_047426056.1:c.961G>T, XM_047426054.1:c.961G>A, XM_047426054.1:c.961G>C, XM_047426054.1:c.961G>T, XM_047426055.1:c.961G>A, XM_047426055.1:c.961G>C, XM_047426055.1:c.961G>T, XM_047426046.1:c.961G>A, XM_047426046.1:c.961G>C, XM_047426046.1:c.961G>T, XM_047426066.1:c.961G>A, XM_047426066.1:c.961G>C, XM_047426066.1:c.961G>T, XM_047426061.1:c.961G>A, XM_047426061.1:c.961G>C, XM_047426061.1:c.961G>T, XM_047426064.1:c.961G>A, XM_047426064.1:c.961G>C, XM_047426064.1:c.961G>T, XM_047426044.1:c.961G>A, XM_047426044.1:c.961G>C, XM_047426044.1:c.961G>T, XM_047426059.1:c.961G>A, XM_047426059.1:c.961G>C, XM_047426059.1:c.961G>T, XM_047426062.1:c.961G>A, XM_047426062.1:c.961G>C, XM_047426062.1:c.961G>T, XM_047426052.1:c.961G>A, XM_047426052.1:c.961G>C, XM_047426052.1:c.961G>T, XM_047426063.1:c.961G>A, XM_047426063.1:c.961G>C, XM_047426063.1:c.961G>T, XM_047426049.1:c.961G>A, XM_047426049.1:c.961G>C, XM_047426049.1:c.961G>T, XM_047426070.1:c.961G>A, XM_047426070.1:c.961G>C, XM_047426070.1:c.961G>T, XM_047426048.1:c.961G>A, XM_047426048.1:c.961G>C, XM_047426048.1:c.961G>T, XM_047426051.1:c.961G>A, XM_047426051.1:c.961G>C, XM_047426051.1:c.961G>T, XM_047426060.1:c.961G>A, XM_047426060.1:c.961G>C, XM_047426060.1:c.961G>T, XM_047426047.1:c.961G>A, XM_047426047.1:c.961G>C, XM_047426047.1:c.961G>T, XM_047426050.1:c.961G>A, XM_047426050.1:c.961G>C, XM_047426050.1:c.961G>T, XM_047426068.1:c.961G>A, XM_047426068.1:c.961G>C, XM_047426068.1:c.961G>T, XM_047426069.1:c.961G>A, XM_047426069.1:c.961G>C, XM_047426069.1:c.961G>T, XM_047426065.1:c.961G>A, XM_047426065.1:c.961G>C, XM_047426065.1:c.961G>T, XM_047426057.1:c.961G>A, XM_047426057.1:c.961G>C, XM_047426057.1:c.961G>T, XM_047426067.1:c.961G>A, XM_047426067.1:c.961G>C, XM_047426067.1:c.961G>T, XM_047426053.1:c.961G>A, XM_047426053.1:c.961G>C, XM_047426053.1:c.961G>T, XM_047426072.1:c.961G>A, XM_047426072.1:c.961G>C, XM_047426072.1:c.961G>T, XM_047426071.1:c.961G>A, XM_047426071.1:c.961G>C, XM_047426071.1:c.961G>T, NP_055618.2:p.Gly321Ser, NP_055618.2:p.Gly321Arg, NP_055618.2:p.Gly321Cys, NP_001317665.1:p.Gly321Ser, NP_001317665.1:p.Gly321Arg, NP_001317665.1:p.Gly321Cys, NP_001265453.1:p.Gly321Ser, NP_001265453.1:p.Gly321Arg, NP_001265453.1:p.Gly321Cys, NP_001265454.1:p.Gly321Ser, NP_001265454.1:p.Gly321Arg, NP_001265454.1:p.Gly321Cys, NP_001317661.1:p.Gly321Ser, NP_001317661.1:p.Gly321Arg, NP_001317661.1:p.Gly321Cys, NP_001317662.1:p.Gly321Ser, NP_001317662.1:p.Gly321Arg, NP_001317662.1:p.Gly321Cys, NP_001317667.1:p.Gly321Ser, NP_001317667.1:p.Gly321Arg, NP_001317667.1:p.Gly321Cys, NP_001317666.1:p.Gly321Ser, NP_001317666.1:p.Gly321Arg, NP_001317666.1:p.Gly321Cys, NP_001317664.1:p.Gly321Ser, NP_001317664.1:p.Gly321Arg, NP_001317664.1:p.Gly321Cys, NP_001317663.1:p.Gly321Ser, NP_001317663.1:p.Gly321Arg, NP_001317663.1:p.Gly321Cys, XP_011538715.1:p.Gly321Ser, XP_011538715.1:p.Gly321Arg, XP_011538715.1:p.Gly321Cys, XP_016872483.1:p.Gly321Ser, XP_016872483.1:p.Gly321Arg, XP_016872483.1:p.Gly321Cys, XP_011538712.1:p.Gly321Ser, XP_011538712.1:p.Gly321Arg, XP_011538712.1:p.Gly321Cys, XP_011538708.1:p.Gly321Ser, XP_011538708.1:p.Gly321Arg, XP_011538708.1:p.Gly321Cys, XP_011538717.1:p.Gly321Ser, XP_011538717.1:p.Gly321Arg, XP_011538717.1:p.Gly321Cys, XP_011538722.1:p.Gly321Ser, XP_011538722.1:p.Gly321Arg, XP_011538722.1:p.Gly321Cys, XP_011538721.1:p.Gly321Ser, XP_011538721.1:p.Gly321Arg, XP_011538721.1:p.Gly321Cys, XP_024304035.1:p.Gly321Ser, XP_024304035.1:p.Gly321Arg, XP_024304035.1:p.Gly321Cys, XP_016872475.1:p.Gly321Ser, XP_016872475.1:p.Gly321Arg, XP_016872475.1:p.Gly321Cys, XP_024304033.1:p.Gly321Ser, XP_024304033.1:p.Gly321Arg, XP_024304033.1:p.Gly321Cys, XP_024304037.1:p.Gly321Ser, XP_024304037.1:p.Gly321Arg, XP_024304037.1:p.Gly321Cys, XP_016872478.1:p.Gly321Ser, XP_016872478.1:p.Gly321Arg, XP_016872478.1:p.Gly321Cys, XP_047282029.1:p.Gly321Ser, XP_047282029.1:p.Gly321Arg, XP_047282029.1:p.Gly321Cys, XP_047282001.1:p.Gly321Ser, XP_047282001.1:p.Gly321Arg, XP_047282001.1:p.Gly321Cys, XP_047282014.1:p.Gly321Ser, XP_047282014.1:p.Gly321Arg, XP_047282014.1:p.Gly321Cys, XP_047282012.1:p.Gly321Ser, XP_047282012.1:p.Gly321Arg, XP_047282012.1:p.Gly321Cys, XP_047282010.1:p.Gly321Ser, XP_047282010.1:p.Gly321Arg, XP_047282010.1:p.Gly321Cys, XP_047282011.1:p.Gly321Ser, XP_047282011.1:p.Gly321Arg, XP_047282011.1:p.Gly321Cys, XP_047282002.1:p.Gly321Ser, XP_047282002.1:p.Gly321Arg, XP_047282002.1:p.Gly321Cys, XP_047282022.1:p.Gly321Ser, XP_047282022.1:p.Gly321Arg, XP_047282022.1:p.Gly321Cys, XP_047282017.1:p.Gly321Ser, XP_047282017.1:p.Gly321Arg, XP_047282017.1:p.Gly321Cys, XP_047282020.1:p.Gly321Ser, XP_047282020.1:p.Gly321Arg, XP_047282020.1:p.Gly321Cys, XP_047282000.1:p.Gly321Ser, XP_047282000.1:p.Gly321Arg, XP_047282000.1:p.Gly321Cys, XP_047282015.1:p.Gly321Ser, XP_047282015.1:p.Gly321Arg, XP_047282015.1:p.Gly321Cys, XP_047282018.1:p.Gly321Ser, XP_047282018.1:p.Gly321Arg, XP_047282018.1:p.Gly321Cys, XP_047282008.1:p.Gly321Ser, XP_047282008.1:p.Gly321Arg, XP_047282008.1:p.Gly321Cys, XP_047282019.1:p.Gly321Ser, XP_047282019.1:p.Gly321Arg, XP_047282019.1:p.Gly321Cys, XP_047282005.1:p.Gly321Ser, XP_047282005.1:p.Gly321Arg, XP_047282005.1:p.Gly321Cys, XP_047282026.1:p.Gly321Ser, XP_047282026.1:p.Gly321Arg, XP_047282026.1:p.Gly321Cys, XP_047282004.1:p.Gly321Ser, XP_047282004.1:p.Gly321Arg, XP_047282004.1:p.Gly321Cys, XP_047282007.1:p.Gly321Ser, XP_047282007.1:p.Gly321Arg, XP_047282007.1:p.Gly321Cys, XP_047282016.1:p.Gly321Ser, XP_047282016.1:p.Gly321Arg, XP_047282016.1:p.Gly321Cys, XP_047282003.1:p.Gly321Ser, XP_047282003.1:p.Gly321Arg, XP_047282003.1:p.Gly321Cys, XP_047282006.1:p.Gly321Ser, XP_047282006.1:p.Gly321Arg, XP_047282006.1:p.Gly321Cys, XP_047282024.1:p.Gly321Ser, XP_047282024.1:p.Gly321Arg, XP_047282024.1:p.Gly321Cys, XP_047282025.1:p.Gly321Ser, XP_047282025.1:p.Gly321Arg, XP_047282025.1:p.Gly321Cys, XP_047282021.1:p.Gly321Ser, XP_047282021.1:p.Gly321Arg, XP_047282021.1:p.Gly321Cys, XP_047282013.1:p.Gly321Ser, XP_047282013.1:p.Gly321Arg, XP_047282013.1:p.Gly321Cys, XP_047282023.1:p.Gly321Ser, XP_047282023.1:p.Gly321Arg, XP_047282023.1:p.Gly321Cys, XP_047282009.1:p.Gly321Ser, XP_047282009.1:p.Gly321Arg, XP_047282009.1:p.Gly321Cys, XP_047282028.1:p.Gly321Ser, XP_047282028.1:p.Gly321Arg, XP_047282028.1:p.Gly321Cys, XP_047282027.1:p.Gly321Ser, XP_047282027.1:p.Gly321Arg, XP_047282027.1:p.Gly321Cys

          5.

          rs1489357478 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            10:96158414 (GRCh38)
            10:97918171 (GRCh37)
            Canonical SPDI:
            NC_000010.11:96158413:G:A
            Gene:
            ZNF518A (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            NC_000010.11:g.96158414G>A, NW_003871070.1:g.121200C>T, NG_033267.2:g.34195G>A, NM_014803.4:c.2092G>A, NM_014803.3:c.2092G>A, NM_001330736.2:c.2092G>A, NM_001330736.1:c.2092G>A, NM_001278524.2:c.2092G>A, NM_001278524.1:c.2092G>A, NM_001278525.2:c.2092G>A, NM_001278525.1:c.2092G>A, NM_001330732.2:c.2092G>A, NM_001330732.1:c.2092G>A, NM_001278526.2:c.502G>A, NM_001278526.1:c.502G>A, NM_001330733.1:c.2092G>A, NM_001330738.1:c.2092G>A, NM_001330737.1:c.2092G>A, NM_001330735.1:c.2092G>A, NM_001330734.1:c.2092G>A, NC_000010.10:g.97918171G>A, XM_011540413.4:c.2092G>A, XM_011540413.3:c.2092G>A, XM_011540413.2:c.2092G>A, XM_011540413.1:c.2092G>A, XM_017016994.3:c.2092G>A, XM_017016994.2:c.2092G>A, XM_017016994.1:c.2092G>A, XM_011540410.3:c.2092G>A, XM_011540410.2:c.2092G>A, XM_011540410.1:c.2092G>A, XM_011540406.3:c.2092G>A, XM_011540406.2:c.2092G>A, XM_011540406.1:c.2092G>A, XM_011540415.3:c.2092G>A, XM_011540415.2:c.2092G>A, XM_011540415.1:c.2092G>A, XM_011540420.3:c.2092G>A, XM_011540420.2:c.2092G>A, XM_011540420.1:c.2092G>A, XM_011540419.3:c.2092G>A, XM_011540419.2:c.2092G>A, XM_011540419.1:c.2092G>A, XM_024448267.2:c.2092G>A, XM_024448267.1:c.2092G>A, XM_017016986.2:c.2092G>A, XM_017016986.1:c.2092G>A, XM_024448265.2:c.2092G>A, XM_024448265.1:c.2092G>A, XM_024448269.2:c.2092G>A, XM_024448269.1:c.2092G>A, XM_017016989.2:c.2092G>A, XM_017016989.1:c.2092G>A, XM_047426073.1:c.2092G>A, XM_047426045.1:c.2092G>A, XM_047426058.1:c.2092G>A, XM_047426056.1:c.2092G>A, XM_047426054.1:c.2092G>A, XM_047426055.1:c.2092G>A, XM_047426046.1:c.2092G>A, XM_047426066.1:c.2092G>A, XM_047426061.1:c.2092G>A, XM_047426064.1:c.2092G>A, XM_047426044.1:c.2092G>A, XM_047426059.1:c.2092G>A, XM_047426062.1:c.2092G>A, XM_047426052.1:c.2092G>A, XM_047426063.1:c.2092G>A, XM_047426049.1:c.2092G>A, XM_047426070.1:c.2092G>A, XM_047426048.1:c.2092G>A, XM_047426051.1:c.2092G>A, XM_047426060.1:c.2092G>A, XM_047426047.1:c.2092G>A, XM_047426050.1:c.2092G>A, XM_047426068.1:c.2092G>A, XM_047426069.1:c.2092G>A, XM_047426065.1:c.2092G>A, XM_047426057.1:c.2092G>A, XM_047426067.1:c.2092G>A, XM_047426053.1:c.2092G>A, XM_047426072.1:c.2092G>A, XM_047426071.1:c.2092G>A, NP_055618.2:p.Ala698Thr, NP_001317665.1:p.Ala698Thr, NP_001265453.1:p.Ala698Thr, NP_001265454.1:p.Ala698Thr, NP_001317661.1:p.Ala698Thr, NP_001265455.1:p.Ala168Thr, NP_001317662.1:p.Ala698Thr, NP_001317667.1:p.Ala698Thr, NP_001317666.1:p.Ala698Thr, NP_001317664.1:p.Ala698Thr, NP_001317663.1:p.Ala698Thr, XP_011538715.1:p.Ala698Thr, XP_016872483.1:p.Ala698Thr, XP_011538712.1:p.Ala698Thr, XP_011538708.1:p.Ala698Thr, XP_011538717.1:p.Ala698Thr, XP_011538722.1:p.Ala698Thr, XP_011538721.1:p.Ala698Thr, XP_024304035.1:p.Ala698Thr, XP_016872475.1:p.Ala698Thr, XP_024304033.1:p.Ala698Thr, XP_024304037.1:p.Ala698Thr, XP_016872478.1:p.Ala698Thr, XP_047282029.1:p.Ala698Thr, XP_047282001.1:p.Ala698Thr, XP_047282014.1:p.Ala698Thr, XP_047282012.1:p.Ala698Thr, XP_047282010.1:p.Ala698Thr, XP_047282011.1:p.Ala698Thr, XP_047282002.1:p.Ala698Thr, XP_047282022.1:p.Ala698Thr, XP_047282017.1:p.Ala698Thr, XP_047282020.1:p.Ala698Thr, XP_047282000.1:p.Ala698Thr, XP_047282015.1:p.Ala698Thr, XP_047282018.1:p.Ala698Thr, XP_047282008.1:p.Ala698Thr, XP_047282019.1:p.Ala698Thr, XP_047282005.1:p.Ala698Thr, XP_047282026.1:p.Ala698Thr, XP_047282004.1:p.Ala698Thr, XP_047282007.1:p.Ala698Thr, XP_047282016.1:p.Ala698Thr, XP_047282003.1:p.Ala698Thr, XP_047282006.1:p.Ala698Thr, XP_047282024.1:p.Ala698Thr, XP_047282025.1:p.Ala698Thr, XP_047282021.1:p.Ala698Thr, XP_047282013.1:p.Ala698Thr, XP_047282023.1:p.Ala698Thr, XP_047282009.1:p.Ala698Thr, XP_047282028.1:p.Ala698Thr, XP_047282027.1:p.Ala698Thr

            6.

            rs1487106083 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              10:96160586 (GRCh38)
              10:97920342 (GRCh37)
              Canonical SPDI:
              NC_000010.11:96160585:C:A
              Gene:
              ZNF518A (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000011/3 (TOPMED)
              A=0.000021/3 (GnomAD)
              HGVS:
              NC_000010.11:g.96160586C>A, NW_003871070.1:g.119028G>T, NG_033267.2:g.36367C>A, NM_014803.4:c.4264C>A, NM_014803.3:c.4264C>A, NM_001330736.2:c.4264C>A, NM_001330736.1:c.4264C>A, NM_001278524.2:c.4264C>A, NM_001278524.1:c.4264C>A, NM_001278525.2:c.4264C>A, NM_001278525.1:c.4264C>A, NM_001330732.2:c.4264C>A, NM_001330732.1:c.4264C>A, NM_001278526.2:c.2674C>A, NM_001278526.1:c.2674C>A, NM_001330733.1:c.4264C>A, NM_001330738.1:c.4264C>A, NM_001330737.1:c.4264C>A, NM_001330735.1:c.4264C>A, NM_001330734.1:c.4264C>A, NC_000010.10:g.97920342C>A, XM_011540413.4:c.4264C>A, XM_011540413.3:c.4264C>A, XM_011540413.2:c.4264C>A, XM_011540413.1:c.4264C>A, XM_017016994.3:c.4264C>A, XM_017016994.2:c.4264C>A, XM_017016994.1:c.4264C>A, XM_011540410.3:c.4264C>A, XM_011540410.2:c.4264C>A, XM_011540410.1:c.4264C>A, XM_011540406.3:c.4264C>A, XM_011540406.2:c.4264C>A, XM_011540406.1:c.4264C>A, XM_011540415.3:c.4264C>A, XM_011540415.2:c.4264C>A, XM_011540415.1:c.4264C>A, XM_011540420.3:c.4264C>A, XM_011540420.2:c.4264C>A, XM_011540420.1:c.4264C>A, XM_011540419.3:c.4264C>A, XM_011540419.2:c.4264C>A, XM_011540419.1:c.4264C>A, XM_024448267.2:c.4264C>A, XM_024448267.1:c.4264C>A, XM_017016986.2:c.4264C>A, XM_017016986.1:c.4264C>A, XM_024448265.2:c.4264C>A, XM_024448265.1:c.4264C>A, XM_024448269.2:c.4264C>A, XM_024448269.1:c.4264C>A, XM_017016989.2:c.4264C>A, XM_017016989.1:c.4264C>A, XM_047426073.1:c.4264C>A, XM_047426045.1:c.4264C>A, XM_047426058.1:c.4264C>A, XM_047426056.1:c.4264C>A, XM_047426054.1:c.4264C>A, XM_047426055.1:c.4264C>A, XM_047426046.1:c.4264C>A, XM_047426066.1:c.4264C>A, XM_047426061.1:c.4264C>A, XM_047426064.1:c.4264C>A, XM_047426044.1:c.4264C>A, XM_047426059.1:c.4264C>A, XM_047426062.1:c.4264C>A, XM_047426052.1:c.4264C>A, XM_047426063.1:c.4264C>A, XM_047426049.1:c.4264C>A, XM_047426070.1:c.4264C>A, XM_047426048.1:c.4264C>A, XM_047426051.1:c.4264C>A, XM_047426060.1:c.4264C>A, XM_047426047.1:c.4264C>A, XM_047426050.1:c.4264C>A, XM_047426068.1:c.4264C>A, XM_047426069.1:c.4264C>A, XM_047426065.1:c.4264C>A, XM_047426057.1:c.4264C>A, XM_047426067.1:c.4264C>A, XM_047426053.1:c.4264C>A, XM_047426072.1:c.4264C>A, XM_047426071.1:c.4264C>A, NP_055618.2:p.Leu1422Ile, NP_001317665.1:p.Leu1422Ile, NP_001265453.1:p.Leu1422Ile, NP_001265454.1:p.Leu1422Ile, NP_001317661.1:p.Leu1422Ile, NP_001265455.1:p.Leu892Ile, NP_001317662.1:p.Leu1422Ile, NP_001317667.1:p.Leu1422Ile, NP_001317666.1:p.Leu1422Ile, NP_001317664.1:p.Leu1422Ile, NP_001317663.1:p.Leu1422Ile, XP_011538715.1:p.Leu1422Ile, XP_016872483.1:p.Leu1422Ile, XP_011538712.1:p.Leu1422Ile, XP_011538708.1:p.Leu1422Ile, XP_011538717.1:p.Leu1422Ile, XP_011538722.1:p.Leu1422Ile, XP_011538721.1:p.Leu1422Ile, XP_024304035.1:p.Leu1422Ile, XP_016872475.1:p.Leu1422Ile, XP_024304033.1:p.Leu1422Ile, XP_024304037.1:p.Leu1422Ile, XP_016872478.1:p.Leu1422Ile, XP_047282029.1:p.Leu1422Ile, XP_047282001.1:p.Leu1422Ile, XP_047282014.1:p.Leu1422Ile, XP_047282012.1:p.Leu1422Ile, XP_047282010.1:p.Leu1422Ile, XP_047282011.1:p.Leu1422Ile, XP_047282002.1:p.Leu1422Ile, XP_047282022.1:p.Leu1422Ile, XP_047282017.1:p.Leu1422Ile, XP_047282020.1:p.Leu1422Ile, XP_047282000.1:p.Leu1422Ile, XP_047282015.1:p.Leu1422Ile, XP_047282018.1:p.Leu1422Ile, XP_047282008.1:p.Leu1422Ile, XP_047282019.1:p.Leu1422Ile, XP_047282005.1:p.Leu1422Ile, XP_047282026.1:p.Leu1422Ile, XP_047282004.1:p.Leu1422Ile, XP_047282007.1:p.Leu1422Ile, XP_047282016.1:p.Leu1422Ile, XP_047282003.1:p.Leu1422Ile, XP_047282006.1:p.Leu1422Ile, XP_047282024.1:p.Leu1422Ile, XP_047282025.1:p.Leu1422Ile, XP_047282021.1:p.Leu1422Ile, XP_047282013.1:p.Leu1422Ile, XP_047282023.1:p.Leu1422Ile, XP_047282009.1:p.Leu1422Ile, XP_047282028.1:p.Leu1422Ile, XP_047282027.1:p.Leu1422Ile

              7.

              rs1480990744 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->TAC [Show Flanks]
                Chromosome:
                10:96159169 (GRCh38)
                10:97918927 (GRCh37)
                Canonical SPDI:
                NC_000010.11:96159169:CTAC:CTACTAC
                Gene:
                ZNF518A (Varview)
                Functional Consequence:
                coding_sequence_variant,inframe_insertion,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                CTACTAC=0./0 (ALFA)
                CTA=0.000008/2 (TOPMED)
                HGVS:
                NC_000010.11:g.96159171_96159173dup, NW_003871070.1:g.120442_120444dup, NG_033267.2:g.34952_34954dup, NM_014803.4:c.2849_2851dup, NM_014803.3:c.2849_2851dup, NM_001330736.2:c.2849_2851dup, NM_001330736.1:c.2849_2851dup, NM_001278524.2:c.2849_2851dup, NM_001278524.1:c.2849_2851dup, NM_001278525.2:c.2849_2851dup, NM_001278525.1:c.2849_2851dup, NM_001330732.2:c.2849_2851dup, NM_001330732.1:c.2849_2851dup, NM_001278526.2:c.1259_1261dup, NM_001278526.1:c.1259_1261dup, NM_001330733.1:c.2849_2851dup, NM_001330738.1:c.2849_2851dup, NM_001330737.1:c.2849_2851dup, NM_001330735.1:c.2849_2851dup, NM_001330734.1:c.2849_2851dup, NC_000010.10:g.97918928_97918930dup, XM_011540413.4:c.2849_2851dup, XM_011540413.3:c.2849_2851dup, XM_011540413.2:c.2849_2851dup, XM_011540413.1:c.2849_2851dup, XM_017016994.3:c.2849_2851dup, XM_017016994.2:c.2849_2851dup, XM_017016994.1:c.2849_2851dup, XM_011540410.3:c.2849_2851dup, XM_011540410.2:c.2849_2851dup, XM_011540410.1:c.2849_2851dup, XM_011540406.3:c.2849_2851dup, XM_011540406.2:c.2849_2851dup, XM_011540406.1:c.2849_2851dup, XM_011540415.3:c.2849_2851dup, XM_011540415.2:c.2849_2851dup, XM_011540415.1:c.2849_2851dup, XM_011540420.3:c.2849_2851dup, XM_011540420.2:c.2849_2851dup, XM_011540420.1:c.2849_2851dup, XM_011540419.3:c.2849_2851dup, XM_011540419.2:c.2849_2851dup, XM_011540419.1:c.2849_2851dup, XM_024448267.2:c.2849_2851dup, XM_024448267.1:c.2849_2851dup, XM_017016986.2:c.2849_2851dup, XM_017016986.1:c.2849_2851dup, XM_024448265.2:c.2849_2851dup, XM_024448265.1:c.2849_2851dup, XM_024448269.2:c.2849_2851dup, XM_024448269.1:c.2849_2851dup, XM_017016989.2:c.2849_2851dup, XM_017016989.1:c.2849_2851dup, XM_047426073.1:c.2849_2851dup, XM_047426045.1:c.2849_2851dup, XM_047426058.1:c.2849_2851dup, XM_047426056.1:c.2849_2851dup, XM_047426054.1:c.2849_2851dup, XM_047426055.1:c.2849_2851dup, XM_047426046.1:c.2849_2851dup, XM_047426066.1:c.2849_2851dup, XM_047426061.1:c.2849_2851dup, XM_047426064.1:c.2849_2851dup, XM_047426044.1:c.2849_2851dup, XM_047426059.1:c.2849_2851dup, XM_047426062.1:c.2849_2851dup, XM_047426052.1:c.2849_2851dup, XM_047426063.1:c.2849_2851dup, XM_047426049.1:c.2849_2851dup, XM_047426070.1:c.2849_2851dup, XM_047426048.1:c.2849_2851dup, XM_047426051.1:c.2849_2851dup, XM_047426060.1:c.2849_2851dup, XM_047426047.1:c.2849_2851dup, XM_047426050.1:c.2849_2851dup, XM_047426068.1:c.2849_2851dup, XM_047426069.1:c.2849_2851dup, XM_047426065.1:c.2849_2851dup, XM_047426057.1:c.2849_2851dup, XM_047426067.1:c.2849_2851dup, XM_047426053.1:c.2849_2851dup, XM_047426072.1:c.2849_2851dup, XM_047426071.1:c.2849_2851dup, NP_055618.2:p.Leu950dup, NP_001317665.1:p.Leu950dup, NP_001265453.1:p.Leu950dup, NP_001265454.1:p.Leu950dup, NP_001317661.1:p.Leu950dup, NP_001265455.1:p.Leu420dup, NP_001317662.1:p.Leu950dup, NP_001317667.1:p.Leu950dup, NP_001317666.1:p.Leu950dup, NP_001317664.1:p.Leu950dup, NP_001317663.1:p.Leu950dup, XP_011538715.1:p.Leu950dup, XP_016872483.1:p.Leu950dup, XP_011538712.1:p.Leu950dup, XP_011538708.1:p.Leu950dup, XP_011538717.1:p.Leu950dup, XP_011538722.1:p.Leu950dup, XP_011538721.1:p.Leu950dup, XP_024304035.1:p.Leu950dup, XP_016872475.1:p.Leu950dup, XP_024304033.1:p.Leu950dup, XP_024304037.1:p.Leu950dup, XP_016872478.1:p.Leu950dup, XP_047282029.1:p.Leu950dup, XP_047282001.1:p.Leu950dup, XP_047282014.1:p.Leu950dup, XP_047282012.1:p.Leu950dup, XP_047282010.1:p.Leu950dup, XP_047282011.1:p.Leu950dup, XP_047282002.1:p.Leu950dup, XP_047282022.1:p.Leu950dup, XP_047282017.1:p.Leu950dup, XP_047282020.1:p.Leu950dup, XP_047282000.1:p.Leu950dup, XP_047282015.1:p.Leu950dup, XP_047282018.1:p.Leu950dup, XP_047282008.1:p.Leu950dup, XP_047282019.1:p.Leu950dup, XP_047282005.1:p.Leu950dup, XP_047282026.1:p.Leu950dup, XP_047282004.1:p.Leu950dup, XP_047282007.1:p.Leu950dup, XP_047282016.1:p.Leu950dup, XP_047282003.1:p.Leu950dup, XP_047282006.1:p.Leu950dup, XP_047282024.1:p.Leu950dup, XP_047282025.1:p.Leu950dup, XP_047282021.1:p.Leu950dup, XP_047282013.1:p.Leu950dup, XP_047282023.1:p.Leu950dup, XP_047282009.1:p.Leu950dup, XP_047282028.1:p.Leu950dup, XP_047282027.1:p.Leu950dup

                8.

                rs1480463584 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  10:96158826 (GRCh38)
                  10:97918583 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:96158825:T:C
                  Gene:
                  ZNF518A (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  C=0.000071/1 (TOMMO)
                  C=0.000342/1 (KOREAN)
                  HGVS:
                  NC_000010.11:g.96158826T>C, NW_003871070.1:g.120788A>G, NG_033267.2:g.34607T>C, NM_014803.4:c.2504T>C, NM_014803.3:c.2504T>C, NM_001330736.2:c.2504T>C, NM_001330736.1:c.2504T>C, NM_001278524.2:c.2504T>C, NM_001278524.1:c.2504T>C, NM_001278525.2:c.2504T>C, NM_001278525.1:c.2504T>C, NM_001330732.2:c.2504T>C, NM_001330732.1:c.2504T>C, NM_001278526.2:c.914T>C, NM_001278526.1:c.914T>C, NM_001330733.1:c.2504T>C, NM_001330738.1:c.2504T>C, NM_001330737.1:c.2504T>C, NM_001330735.1:c.2504T>C, NM_001330734.1:c.2504T>C, NC_000010.10:g.97918583T>C, XM_011540413.4:c.2504T>C, XM_011540413.3:c.2504T>C, XM_011540413.2:c.2504T>C, XM_011540413.1:c.2504T>C, XM_017016994.3:c.2504T>C, XM_017016994.2:c.2504T>C, XM_017016994.1:c.2504T>C, XM_011540410.3:c.2504T>C, XM_011540410.2:c.2504T>C, XM_011540410.1:c.2504T>C, XM_011540406.3:c.2504T>C, XM_011540406.2:c.2504T>C, XM_011540406.1:c.2504T>C, XM_011540415.3:c.2504T>C, XM_011540415.2:c.2504T>C, XM_011540415.1:c.2504T>C, XM_011540420.3:c.2504T>C, XM_011540420.2:c.2504T>C, XM_011540420.1:c.2504T>C, XM_011540419.3:c.2504T>C, XM_011540419.2:c.2504T>C, XM_011540419.1:c.2504T>C, XM_024448267.2:c.2504T>C, XM_024448267.1:c.2504T>C, XM_017016986.2:c.2504T>C, XM_017016986.1:c.2504T>C, XM_024448265.2:c.2504T>C, XM_024448265.1:c.2504T>C, XM_024448269.2:c.2504T>C, XM_024448269.1:c.2504T>C, XM_017016989.2:c.2504T>C, XM_017016989.1:c.2504T>C, XM_047426073.1:c.2504T>C, XM_047426045.1:c.2504T>C, XM_047426058.1:c.2504T>C, XM_047426056.1:c.2504T>C, XM_047426054.1:c.2504T>C, XM_047426055.1:c.2504T>C, XM_047426046.1:c.2504T>C, XM_047426066.1:c.2504T>C, XM_047426061.1:c.2504T>C, XM_047426064.1:c.2504T>C, XM_047426044.1:c.2504T>C, XM_047426059.1:c.2504T>C, XM_047426062.1:c.2504T>C, XM_047426052.1:c.2504T>C, XM_047426063.1:c.2504T>C, XM_047426049.1:c.2504T>C, XM_047426070.1:c.2504T>C, XM_047426048.1:c.2504T>C, XM_047426051.1:c.2504T>C, XM_047426060.1:c.2504T>C, XM_047426047.1:c.2504T>C, XM_047426050.1:c.2504T>C, XM_047426068.1:c.2504T>C, XM_047426069.1:c.2504T>C, XM_047426065.1:c.2504T>C, XM_047426057.1:c.2504T>C, XM_047426067.1:c.2504T>C, XM_047426053.1:c.2504T>C, XM_047426072.1:c.2504T>C, XM_047426071.1:c.2504T>C, NP_055618.2:p.Val835Ala, NP_001317665.1:p.Val835Ala, NP_001265453.1:p.Val835Ala, NP_001265454.1:p.Val835Ala, NP_001317661.1:p.Val835Ala, NP_001265455.1:p.Val305Ala, NP_001317662.1:p.Val835Ala, NP_001317667.1:p.Val835Ala, NP_001317666.1:p.Val835Ala, NP_001317664.1:p.Val835Ala, NP_001317663.1:p.Val835Ala, XP_011538715.1:p.Val835Ala, XP_016872483.1:p.Val835Ala, XP_011538712.1:p.Val835Ala, XP_011538708.1:p.Val835Ala, XP_011538717.1:p.Val835Ala, XP_011538722.1:p.Val835Ala, XP_011538721.1:p.Val835Ala, XP_024304035.1:p.Val835Ala, XP_016872475.1:p.Val835Ala, XP_024304033.1:p.Val835Ala, XP_024304037.1:p.Val835Ala, XP_016872478.1:p.Val835Ala, XP_047282029.1:p.Val835Ala, XP_047282001.1:p.Val835Ala, XP_047282014.1:p.Val835Ala, XP_047282012.1:p.Val835Ala, XP_047282010.1:p.Val835Ala, XP_047282011.1:p.Val835Ala, XP_047282002.1:p.Val835Ala, XP_047282022.1:p.Val835Ala, XP_047282017.1:p.Val835Ala, XP_047282020.1:p.Val835Ala, XP_047282000.1:p.Val835Ala, XP_047282015.1:p.Val835Ala, XP_047282018.1:p.Val835Ala, XP_047282008.1:p.Val835Ala, XP_047282019.1:p.Val835Ala, XP_047282005.1:p.Val835Ala, XP_047282026.1:p.Val835Ala, XP_047282004.1:p.Val835Ala, XP_047282007.1:p.Val835Ala, XP_047282016.1:p.Val835Ala, XP_047282003.1:p.Val835Ala, XP_047282006.1:p.Val835Ala, XP_047282024.1:p.Val835Ala, XP_047282025.1:p.Val835Ala, XP_047282021.1:p.Val835Ala, XP_047282013.1:p.Val835Ala, XP_047282023.1:p.Val835Ala, XP_047282009.1:p.Val835Ala, XP_047282028.1:p.Val835Ala, XP_047282027.1:p.Val835Ala

                  9.

                  rs1479805433 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    10:96157915 (GRCh38)
                    10:97917672 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:96157914:G:A
                    Gene:
                    ZNF518A (Varview)
                    Functional Consequence:
                    coding_sequence_variant,intron_variant,missense_variant,initiator_codon_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000028/1 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.00005/7 (GnomAD)
                    A=0.000087/23 (TOPMED)
                    HGVS:
                    NC_000010.11:g.96157915G>A, NW_003871070.1:g.121699C>T, NG_033267.2:g.33696G>A, NM_014803.4:c.1593G>A, NM_014803.3:c.1593G>A, NM_001330736.2:c.1593G>A, NM_001330736.1:c.1593G>A, NM_001278524.2:c.1593G>A, NM_001278524.1:c.1593G>A, NM_001278525.2:c.1593G>A, NM_001278525.1:c.1593G>A, NM_001330732.2:c.1593G>A, NM_001330732.1:c.1593G>A, NM_001278526.2:c.3G>A, NM_001278526.1:c.3G>A, NM_001330733.1:c.1593G>A, NM_001330738.1:c.1593G>A, NM_001330737.1:c.1593G>A, NM_001330735.1:c.1593G>A, NM_001330734.1:c.1593G>A, NC_000010.10:g.97917672G>A, XM_011540413.4:c.1593G>A, XM_011540413.3:c.1593G>A, XM_011540413.2:c.1593G>A, XM_011540413.1:c.1593G>A, XM_017016994.3:c.1593G>A, XM_017016994.2:c.1593G>A, XM_017016994.1:c.1593G>A, XM_011540410.3:c.1593G>A, XM_011540410.2:c.1593G>A, XM_011540410.1:c.1593G>A, XM_011540406.3:c.1593G>A, XM_011540406.2:c.1593G>A, XM_011540406.1:c.1593G>A, XM_011540415.3:c.1593G>A, XM_011540415.2:c.1593G>A, XM_011540415.1:c.1593G>A, XM_011540420.3:c.1593G>A, XM_011540420.2:c.1593G>A, XM_011540420.1:c.1593G>A, XM_011540419.3:c.1593G>A, XM_011540419.2:c.1593G>A, XM_011540419.1:c.1593G>A, XM_024448267.2:c.1593G>A, XM_024448267.1:c.1593G>A, XM_017016986.2:c.1593G>A, XM_017016986.1:c.1593G>A, XM_024448265.2:c.1593G>A, XM_024448265.1:c.1593G>A, XM_024448269.2:c.1593G>A, XM_024448269.1:c.1593G>A, XM_017016989.2:c.1593G>A, XM_017016989.1:c.1593G>A, XM_047426073.1:c.1593G>A, XM_047426045.1:c.1593G>A, XM_047426058.1:c.1593G>A, XM_047426056.1:c.1593G>A, XM_047426054.1:c.1593G>A, XM_047426055.1:c.1593G>A, XM_047426046.1:c.1593G>A, XM_047426066.1:c.1593G>A, XM_047426061.1:c.1593G>A, XM_047426064.1:c.1593G>A, XM_047426044.1:c.1593G>A, XM_047426059.1:c.1593G>A, XM_047426062.1:c.1593G>A, XM_047426052.1:c.1593G>A, XM_047426063.1:c.1593G>A, XM_047426049.1:c.1593G>A, XM_047426070.1:c.1593G>A, XM_047426048.1:c.1593G>A, XM_047426051.1:c.1593G>A, XM_047426060.1:c.1593G>A, XM_047426047.1:c.1593G>A, XM_047426050.1:c.1593G>A, XM_047426068.1:c.1593G>A, XM_047426069.1:c.1593G>A, XM_047426065.1:c.1593G>A, XM_047426057.1:c.1593G>A, XM_047426067.1:c.1593G>A, XM_047426053.1:c.1593G>A, XM_047426072.1:c.1593G>A, XM_047426071.1:c.1593G>A, NP_055618.2:p.Met531Ile, NP_001317665.1:p.Met531Ile, NP_001265453.1:p.Met531Ile, NP_001265454.1:p.Met531Ile, NP_001317661.1:p.Met531Ile, NP_001265455.1:p.Met1Ile, NP_001317662.1:p.Met531Ile, NP_001317667.1:p.Met531Ile, NP_001317666.1:p.Met531Ile, NP_001317664.1:p.Met531Ile, NP_001317663.1:p.Met531Ile, XP_011538715.1:p.Met531Ile, XP_016872483.1:p.Met531Ile, XP_011538712.1:p.Met531Ile, XP_011538708.1:p.Met531Ile, XP_011538717.1:p.Met531Ile, XP_011538722.1:p.Met531Ile, XP_011538721.1:p.Met531Ile, XP_024304035.1:p.Met531Ile, XP_016872475.1:p.Met531Ile, XP_024304033.1:p.Met531Ile, XP_024304037.1:p.Met531Ile, XP_016872478.1:p.Met531Ile, XP_047282029.1:p.Met531Ile, XP_047282001.1:p.Met531Ile, XP_047282014.1:p.Met531Ile, XP_047282012.1:p.Met531Ile, XP_047282010.1:p.Met531Ile, XP_047282011.1:p.Met531Ile, XP_047282002.1:p.Met531Ile, XP_047282022.1:p.Met531Ile, XP_047282017.1:p.Met531Ile, XP_047282020.1:p.Met531Ile, XP_047282000.1:p.Met531Ile, XP_047282015.1:p.Met531Ile, XP_047282018.1:p.Met531Ile, XP_047282008.1:p.Met531Ile, XP_047282019.1:p.Met531Ile, XP_047282005.1:p.Met531Ile, XP_047282026.1:p.Met531Ile, XP_047282004.1:p.Met531Ile, XP_047282007.1:p.Met531Ile, XP_047282016.1:p.Met531Ile, XP_047282003.1:p.Met531Ile, XP_047282006.1:p.Met531Ile, XP_047282024.1:p.Met531Ile, XP_047282025.1:p.Met531Ile, XP_047282021.1:p.Met531Ile, XP_047282013.1:p.Met531Ile, XP_047282023.1:p.Met531Ile, XP_047282009.1:p.Met531Ile, XP_047282028.1:p.Met531Ile, XP_047282027.1:p.Met531Ile

                    10.

                    rs1479595345 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      10:96159512 (GRCh38)
                      10:97919269 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:96159511:A:C
                      Gene:
                      ZNF518A (Varview)
                      Functional Consequence:
                      coding_sequence_variant,intron_variant,missense_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_000010.11:g.96159512A>C, NW_003871070.1:g.120102T>G, NG_033267.2:g.35293A>C, NM_014803.4:c.3190A>C, NM_014803.3:c.3190A>C, NM_001330736.2:c.3190A>C, NM_001330736.1:c.3190A>C, NM_001278524.2:c.3190A>C, NM_001278524.1:c.3190A>C, NM_001278525.2:c.3190A>C, NM_001278525.1:c.3190A>C, NM_001330732.2:c.3190A>C, NM_001330732.1:c.3190A>C, NM_001278526.2:c.1600A>C, NM_001278526.1:c.1600A>C, NM_001330733.1:c.3190A>C, NM_001330738.1:c.3190A>C, NM_001330737.1:c.3190A>C, NM_001330735.1:c.3190A>C, NM_001330734.1:c.3190A>C, NC_000010.10:g.97919269A>C, XM_011540413.4:c.3190A>C, XM_011540413.3:c.3190A>C, XM_011540413.2:c.3190A>C, XM_011540413.1:c.3190A>C, XM_017016994.3:c.3190A>C, XM_017016994.2:c.3190A>C, XM_017016994.1:c.3190A>C, XM_011540410.3:c.3190A>C, XM_011540410.2:c.3190A>C, XM_011540410.1:c.3190A>C, XM_011540406.3:c.3190A>C, XM_011540406.2:c.3190A>C, XM_011540406.1:c.3190A>C, XM_011540415.3:c.3190A>C, XM_011540415.2:c.3190A>C, XM_011540415.1:c.3190A>C, XM_011540420.3:c.3190A>C, XM_011540420.2:c.3190A>C, XM_011540420.1:c.3190A>C, XM_011540419.3:c.3190A>C, XM_011540419.2:c.3190A>C, XM_011540419.1:c.3190A>C, XM_024448267.2:c.3190A>C, XM_024448267.1:c.3190A>C, XM_017016986.2:c.3190A>C, XM_017016986.1:c.3190A>C, XM_024448265.2:c.3190A>C, XM_024448265.1:c.3190A>C, XM_024448269.2:c.3190A>C, XM_024448269.1:c.3190A>C, XM_017016989.2:c.3190A>C, XM_017016989.1:c.3190A>C, XM_047426073.1:c.3190A>C, XM_047426045.1:c.3190A>C, XM_047426058.1:c.3190A>C, XM_047426056.1:c.3190A>C, XM_047426054.1:c.3190A>C, XM_047426055.1:c.3190A>C, XM_047426046.1:c.3190A>C, XM_047426066.1:c.3190A>C, XM_047426061.1:c.3190A>C, XM_047426064.1:c.3190A>C, XM_047426044.1:c.3190A>C, XM_047426059.1:c.3190A>C, XM_047426062.1:c.3190A>C, XM_047426052.1:c.3190A>C, XM_047426063.1:c.3190A>C, XM_047426049.1:c.3190A>C, XM_047426070.1:c.3190A>C, XM_047426048.1:c.3190A>C, XM_047426051.1:c.3190A>C, XM_047426060.1:c.3190A>C, XM_047426047.1:c.3190A>C, XM_047426050.1:c.3190A>C, XM_047426068.1:c.3190A>C, XM_047426069.1:c.3190A>C, XM_047426065.1:c.3190A>C, XM_047426057.1:c.3190A>C, XM_047426067.1:c.3190A>C, XM_047426053.1:c.3190A>C, XM_047426072.1:c.3190A>C, XM_047426071.1:c.3190A>C, NP_055618.2:p.Ile1064Leu, NP_001317665.1:p.Ile1064Leu, NP_001265453.1:p.Ile1064Leu, NP_001265454.1:p.Ile1064Leu, NP_001317661.1:p.Ile1064Leu, NP_001265455.1:p.Ile534Leu, NP_001317662.1:p.Ile1064Leu, NP_001317667.1:p.Ile1064Leu, NP_001317666.1:p.Ile1064Leu, NP_001317664.1:p.Ile1064Leu, NP_001317663.1:p.Ile1064Leu, XP_011538715.1:p.Ile1064Leu, XP_016872483.1:p.Ile1064Leu, XP_011538712.1:p.Ile1064Leu, XP_011538708.1:p.Ile1064Leu, XP_011538717.1:p.Ile1064Leu, XP_011538722.1:p.Ile1064Leu, XP_011538721.1:p.Ile1064Leu, XP_024304035.1:p.Ile1064Leu, XP_016872475.1:p.Ile1064Leu, XP_024304033.1:p.Ile1064Leu, XP_024304037.1:p.Ile1064Leu, XP_016872478.1:p.Ile1064Leu, XP_047282029.1:p.Ile1064Leu, XP_047282001.1:p.Ile1064Leu, XP_047282014.1:p.Ile1064Leu, XP_047282012.1:p.Ile1064Leu, XP_047282010.1:p.Ile1064Leu, XP_047282011.1:p.Ile1064Leu, XP_047282002.1:p.Ile1064Leu, XP_047282022.1:p.Ile1064Leu, XP_047282017.1:p.Ile1064Leu, XP_047282020.1:p.Ile1064Leu, XP_047282000.1:p.Ile1064Leu, XP_047282015.1:p.Ile1064Leu, XP_047282018.1:p.Ile1064Leu, XP_047282008.1:p.Ile1064Leu, XP_047282019.1:p.Ile1064Leu, XP_047282005.1:p.Ile1064Leu, XP_047282026.1:p.Ile1064Leu, XP_047282004.1:p.Ile1064Leu, XP_047282007.1:p.Ile1064Leu, XP_047282016.1:p.Ile1064Leu, XP_047282003.1:p.Ile1064Leu, XP_047282006.1:p.Ile1064Leu, XP_047282024.1:p.Ile1064Leu, XP_047282025.1:p.Ile1064Leu, XP_047282021.1:p.Ile1064Leu, XP_047282013.1:p.Ile1064Leu, XP_047282023.1:p.Ile1064Leu, XP_047282009.1:p.Ile1064Leu, XP_047282028.1:p.Ile1064Leu, XP_047282027.1:p.Ile1064Leu

                      11.

                      rs1479486468 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        10:96158358 (GRCh38)
                        10:97918115 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:96158357:G:T
                        Gene:
                        ZNF518A (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000010.11:g.96158358G>T, NW_003871070.1:g.121256C>A, NG_033267.2:g.34139G>T, NM_014803.4:c.2036G>T, NM_014803.3:c.2036G>T, NM_001330736.2:c.2036G>T, NM_001330736.1:c.2036G>T, NM_001278524.2:c.2036G>T, NM_001278524.1:c.2036G>T, NM_001278525.2:c.2036G>T, NM_001278525.1:c.2036G>T, NM_001330732.2:c.2036G>T, NM_001330732.1:c.2036G>T, NM_001278526.2:c.446G>T, NM_001278526.1:c.446G>T, NM_001330733.1:c.2036G>T, NM_001330738.1:c.2036G>T, NM_001330737.1:c.2036G>T, NM_001330735.1:c.2036G>T, NM_001330734.1:c.2036G>T, NC_000010.10:g.97918115G>T, XM_011540413.4:c.2036G>T, XM_011540413.3:c.2036G>T, XM_011540413.2:c.2036G>T, XM_011540413.1:c.2036G>T, XM_017016994.3:c.2036G>T, XM_017016994.2:c.2036G>T, XM_017016994.1:c.2036G>T, XM_011540410.3:c.2036G>T, XM_011540410.2:c.2036G>T, XM_011540410.1:c.2036G>T, XM_011540406.3:c.2036G>T, XM_011540406.2:c.2036G>T, XM_011540406.1:c.2036G>T, XM_011540415.3:c.2036G>T, XM_011540415.2:c.2036G>T, XM_011540415.1:c.2036G>T, XM_011540420.3:c.2036G>T, XM_011540420.2:c.2036G>T, XM_011540420.1:c.2036G>T, XM_011540419.3:c.2036G>T, XM_011540419.2:c.2036G>T, XM_011540419.1:c.2036G>T, XM_024448267.2:c.2036G>T, XM_024448267.1:c.2036G>T, XM_017016986.2:c.2036G>T, XM_017016986.1:c.2036G>T, XM_024448265.2:c.2036G>T, XM_024448265.1:c.2036G>T, XM_024448269.2:c.2036G>T, XM_024448269.1:c.2036G>T, XM_017016989.2:c.2036G>T, XM_017016989.1:c.2036G>T, XM_047426073.1:c.2036G>T, XM_047426045.1:c.2036G>T, XM_047426058.1:c.2036G>T, XM_047426056.1:c.2036G>T, XM_047426054.1:c.2036G>T, XM_047426055.1:c.2036G>T, XM_047426046.1:c.2036G>T, XM_047426066.1:c.2036G>T, XM_047426061.1:c.2036G>T, XM_047426064.1:c.2036G>T, XM_047426044.1:c.2036G>T, XM_047426059.1:c.2036G>T, XM_047426062.1:c.2036G>T, XM_047426052.1:c.2036G>T, XM_047426063.1:c.2036G>T, XM_047426049.1:c.2036G>T, XM_047426070.1:c.2036G>T, XM_047426048.1:c.2036G>T, XM_047426051.1:c.2036G>T, XM_047426060.1:c.2036G>T, XM_047426047.1:c.2036G>T, XM_047426050.1:c.2036G>T, XM_047426068.1:c.2036G>T, XM_047426069.1:c.2036G>T, XM_047426065.1:c.2036G>T, XM_047426057.1:c.2036G>T, XM_047426067.1:c.2036G>T, XM_047426053.1:c.2036G>T, XM_047426072.1:c.2036G>T, XM_047426071.1:c.2036G>T, NP_055618.2:p.Ser679Ile, NP_001317665.1:p.Ser679Ile, NP_001265453.1:p.Ser679Ile, NP_001265454.1:p.Ser679Ile, NP_001317661.1:p.Ser679Ile, NP_001265455.1:p.Ser149Ile, NP_001317662.1:p.Ser679Ile, NP_001317667.1:p.Ser679Ile, NP_001317666.1:p.Ser679Ile, NP_001317664.1:p.Ser679Ile, NP_001317663.1:p.Ser679Ile, XP_011538715.1:p.Ser679Ile, XP_016872483.1:p.Ser679Ile, XP_011538712.1:p.Ser679Ile, XP_011538708.1:p.Ser679Ile, XP_011538717.1:p.Ser679Ile, XP_011538722.1:p.Ser679Ile, XP_011538721.1:p.Ser679Ile, XP_024304035.1:p.Ser679Ile, XP_016872475.1:p.Ser679Ile, XP_024304033.1:p.Ser679Ile, XP_024304037.1:p.Ser679Ile, XP_016872478.1:p.Ser679Ile, XP_047282029.1:p.Ser679Ile, XP_047282001.1:p.Ser679Ile, XP_047282014.1:p.Ser679Ile, XP_047282012.1:p.Ser679Ile, XP_047282010.1:p.Ser679Ile, XP_047282011.1:p.Ser679Ile, XP_047282002.1:p.Ser679Ile, XP_047282022.1:p.Ser679Ile, XP_047282017.1:p.Ser679Ile, XP_047282020.1:p.Ser679Ile, XP_047282000.1:p.Ser679Ile, XP_047282015.1:p.Ser679Ile, XP_047282018.1:p.Ser679Ile, XP_047282008.1:p.Ser679Ile, XP_047282019.1:p.Ser679Ile, XP_047282005.1:p.Ser679Ile, XP_047282026.1:p.Ser679Ile, XP_047282004.1:p.Ser679Ile, XP_047282007.1:p.Ser679Ile, XP_047282016.1:p.Ser679Ile, XP_047282003.1:p.Ser679Ile, XP_047282006.1:p.Ser679Ile, XP_047282024.1:p.Ser679Ile, XP_047282025.1:p.Ser679Ile, XP_047282021.1:p.Ser679Ile, XP_047282013.1:p.Ser679Ile, XP_047282023.1:p.Ser679Ile, XP_047282009.1:p.Ser679Ile, XP_047282028.1:p.Ser679Ile, XP_047282027.1:p.Ser679Ile

                        12.

                        rs1479297375 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          10:96156418 (GRCh38)
                          10:97916175 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:96156417:A:C
                          Gene:
                          ZNF518A (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000010.11:g.96156418A>C, NW_003871070.1:g.123196T>G, NG_033267.2:g.32199A>C, NM_014803.4:c.96A>C, NM_014803.3:c.96A>C, NM_001330736.2:c.96A>C, NM_001330736.1:c.96A>C, NM_001278524.2:c.96A>C, NM_001278524.1:c.96A>C, NM_001278525.2:c.96A>C, NM_001278525.1:c.96A>C, NM_001330732.2:c.96A>C, NM_001330732.1:c.96A>C, NM_001330733.1:c.96A>C, NM_001330738.1:c.96A>C, NM_001330737.1:c.96A>C, NM_001330735.1:c.96A>C, NM_001330734.1:c.96A>C, NC_000010.10:g.97916175A>C, XM_011540413.4:c.96A>C, XM_011540413.3:c.96A>C, XM_011540413.2:c.96A>C, XM_011540413.1:c.96A>C, XM_017016994.3:c.96A>C, XM_017016994.2:c.96A>C, XM_017016994.1:c.96A>C, XM_011540410.3:c.96A>C, XM_011540410.2:c.96A>C, XM_011540410.1:c.96A>C, XM_011540406.3:c.96A>C, XM_011540406.2:c.96A>C, XM_011540406.1:c.96A>C, XM_011540415.3:c.96A>C, XM_011540415.2:c.96A>C, XM_011540415.1:c.96A>C, XM_011540420.3:c.96A>C, XM_011540420.2:c.96A>C, XM_011540420.1:c.96A>C, XM_011540419.3:c.96A>C, XM_011540419.2:c.96A>C, XM_011540419.1:c.96A>C, XM_024448267.2:c.96A>C, XM_024448267.1:c.96A>C, XM_017016986.2:c.96A>C, XM_017016986.1:c.96A>C, XM_024448265.2:c.96A>C, XM_024448265.1:c.96A>C, XM_024448269.2:c.96A>C, XM_024448269.1:c.96A>C, XM_017016989.2:c.96A>C, XM_017016989.1:c.96A>C, XM_047426073.1:c.96A>C, XM_047426045.1:c.96A>C, XM_047426058.1:c.96A>C, XM_047426056.1:c.96A>C, XM_047426054.1:c.96A>C, XM_047426055.1:c.96A>C, XM_047426046.1:c.96A>C, XM_047426066.1:c.96A>C, XM_047426061.1:c.96A>C, XM_047426064.1:c.96A>C, XM_047426044.1:c.96A>C, XM_047426059.1:c.96A>C, XM_047426062.1:c.96A>C, XM_047426052.1:c.96A>C, XM_047426063.1:c.96A>C, XM_047426049.1:c.96A>C, XM_047426070.1:c.96A>C, XM_047426048.1:c.96A>C, XM_047426051.1:c.96A>C, XM_047426060.1:c.96A>C, XM_047426047.1:c.96A>C, XM_047426050.1:c.96A>C, XM_047426068.1:c.96A>C, XM_047426069.1:c.96A>C, XM_047426065.1:c.96A>C, XM_047426057.1:c.96A>C, XM_047426067.1:c.96A>C, XM_047426053.1:c.96A>C, XM_047426072.1:c.96A>C, XM_047426071.1:c.96A>C

                          13.

                          rs1476523660 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            10:96158538 (GRCh38)
                            10:97918295 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:96158537:A:T
                            Gene:
                            ZNF518A (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            NC_000010.11:g.96158538A>T, NW_003871070.1:g.121076T>A, NG_033267.2:g.34319A>T, NM_014803.4:c.2216A>T, NM_014803.3:c.2216A>T, NM_001330736.2:c.2216A>T, NM_001330736.1:c.2216A>T, NM_001278524.2:c.2216A>T, NM_001278524.1:c.2216A>T, NM_001278525.2:c.2216A>T, NM_001278525.1:c.2216A>T, NM_001330732.2:c.2216A>T, NM_001330732.1:c.2216A>T, NM_001278526.2:c.626A>T, NM_001278526.1:c.626A>T, NM_001330733.1:c.2216A>T, NM_001330738.1:c.2216A>T, NM_001330737.1:c.2216A>T, NM_001330735.1:c.2216A>T, NM_001330734.1:c.2216A>T, NC_000010.10:g.97918295A>T, XM_011540413.4:c.2216A>T, XM_011540413.3:c.2216A>T, XM_011540413.2:c.2216A>T, XM_011540413.1:c.2216A>T, XM_017016994.3:c.2216A>T, XM_017016994.2:c.2216A>T, XM_017016994.1:c.2216A>T, XM_011540410.3:c.2216A>T, XM_011540410.2:c.2216A>T, XM_011540410.1:c.2216A>T, XM_011540406.3:c.2216A>T, XM_011540406.2:c.2216A>T, XM_011540406.1:c.2216A>T, XM_011540415.3:c.2216A>T, XM_011540415.2:c.2216A>T, XM_011540415.1:c.2216A>T, XM_011540420.3:c.2216A>T, XM_011540420.2:c.2216A>T, XM_011540420.1:c.2216A>T, XM_011540419.3:c.2216A>T, XM_011540419.2:c.2216A>T, XM_011540419.1:c.2216A>T, XM_024448267.2:c.2216A>T, XM_024448267.1:c.2216A>T, XM_017016986.2:c.2216A>T, XM_017016986.1:c.2216A>T, XM_024448265.2:c.2216A>T, XM_024448265.1:c.2216A>T, XM_024448269.2:c.2216A>T, XM_024448269.1:c.2216A>T, XM_017016989.2:c.2216A>T, XM_017016989.1:c.2216A>T, XM_047426073.1:c.2216A>T, XM_047426045.1:c.2216A>T, XM_047426058.1:c.2216A>T, XM_047426056.1:c.2216A>T, XM_047426054.1:c.2216A>T, XM_047426055.1:c.2216A>T, XM_047426046.1:c.2216A>T, XM_047426066.1:c.2216A>T, XM_047426061.1:c.2216A>T, XM_047426064.1:c.2216A>T, XM_047426044.1:c.2216A>T, XM_047426059.1:c.2216A>T, XM_047426062.1:c.2216A>T, XM_047426052.1:c.2216A>T, XM_047426063.1:c.2216A>T, XM_047426049.1:c.2216A>T, XM_047426070.1:c.2216A>T, XM_047426048.1:c.2216A>T, XM_047426051.1:c.2216A>T, XM_047426060.1:c.2216A>T, XM_047426047.1:c.2216A>T, XM_047426050.1:c.2216A>T, XM_047426068.1:c.2216A>T, XM_047426069.1:c.2216A>T, XM_047426065.1:c.2216A>T, XM_047426057.1:c.2216A>T, XM_047426067.1:c.2216A>T, XM_047426053.1:c.2216A>T, XM_047426072.1:c.2216A>T, XM_047426071.1:c.2216A>T, NP_055618.2:p.Gln739Leu, NP_001317665.1:p.Gln739Leu, NP_001265453.1:p.Gln739Leu, NP_001265454.1:p.Gln739Leu, NP_001317661.1:p.Gln739Leu, NP_001265455.1:p.Gln209Leu, NP_001317662.1:p.Gln739Leu, NP_001317667.1:p.Gln739Leu, NP_001317666.1:p.Gln739Leu, NP_001317664.1:p.Gln739Leu, NP_001317663.1:p.Gln739Leu, XP_011538715.1:p.Gln739Leu, XP_016872483.1:p.Gln739Leu, XP_011538712.1:p.Gln739Leu, XP_011538708.1:p.Gln739Leu, XP_011538717.1:p.Gln739Leu, XP_011538722.1:p.Gln739Leu, XP_011538721.1:p.Gln739Leu, XP_024304035.1:p.Gln739Leu, XP_016872475.1:p.Gln739Leu, XP_024304033.1:p.Gln739Leu, XP_024304037.1:p.Gln739Leu, XP_016872478.1:p.Gln739Leu, XP_047282029.1:p.Gln739Leu, XP_047282001.1:p.Gln739Leu, XP_047282014.1:p.Gln739Leu, XP_047282012.1:p.Gln739Leu, XP_047282010.1:p.Gln739Leu, XP_047282011.1:p.Gln739Leu, XP_047282002.1:p.Gln739Leu, XP_047282022.1:p.Gln739Leu, XP_047282017.1:p.Gln739Leu, XP_047282020.1:p.Gln739Leu, XP_047282000.1:p.Gln739Leu, XP_047282015.1:p.Gln739Leu, XP_047282018.1:p.Gln739Leu, XP_047282008.1:p.Gln739Leu, XP_047282019.1:p.Gln739Leu, XP_047282005.1:p.Gln739Leu, XP_047282026.1:p.Gln739Leu, XP_047282004.1:p.Gln739Leu, XP_047282007.1:p.Gln739Leu, XP_047282016.1:p.Gln739Leu, XP_047282003.1:p.Gln739Leu, XP_047282006.1:p.Gln739Leu, XP_047282024.1:p.Gln739Leu, XP_047282025.1:p.Gln739Leu, XP_047282021.1:p.Gln739Leu, XP_047282013.1:p.Gln739Leu, XP_047282023.1:p.Gln739Leu, XP_047282009.1:p.Gln739Leu, XP_047282028.1:p.Gln739Leu, XP_047282027.1:p.Gln739Leu

                            14.

                            rs1473256355 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              10:96157505 (GRCh38)
                              10:97917262 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:96157504:C:T
                              Gene:
                              ZNF518A (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0.000028/1 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000010.11:g.96157505C>T, NW_003871070.1:g.122109G>A, NG_033267.2:g.33286C>T, NM_014803.4:c.1183C>T, NM_014803.3:c.1183C>T, NM_001330736.2:c.1183C>T, NM_001330736.1:c.1183C>T, NM_001278524.2:c.1183C>T, NM_001278524.1:c.1183C>T, NM_001278525.2:c.1183C>T, NM_001278525.1:c.1183C>T, NM_001330732.2:c.1183C>T, NM_001330732.1:c.1183C>T, NM_001330733.1:c.1183C>T, NM_001330738.1:c.1183C>T, NM_001330737.1:c.1183C>T, NM_001330735.1:c.1183C>T, NM_001330734.1:c.1183C>T, NC_000010.10:g.97917262C>T, XM_011540413.4:c.1183C>T, XM_011540413.3:c.1183C>T, XM_011540413.2:c.1183C>T, XM_011540413.1:c.1183C>T, XM_017016994.3:c.1183C>T, XM_017016994.2:c.1183C>T, XM_017016994.1:c.1183C>T, XM_011540410.3:c.1183C>T, XM_011540410.2:c.1183C>T, XM_011540410.1:c.1183C>T, XM_011540406.3:c.1183C>T, XM_011540406.2:c.1183C>T, XM_011540406.1:c.1183C>T, XM_011540415.3:c.1183C>T, XM_011540415.2:c.1183C>T, XM_011540415.1:c.1183C>T, XM_011540420.3:c.1183C>T, XM_011540420.2:c.1183C>T, XM_011540420.1:c.1183C>T, XM_011540419.3:c.1183C>T, XM_011540419.2:c.1183C>T, XM_011540419.1:c.1183C>T, XM_024448267.2:c.1183C>T, XM_024448267.1:c.1183C>T, XM_017016986.2:c.1183C>T, XM_017016986.1:c.1183C>T, XM_024448265.2:c.1183C>T, XM_024448265.1:c.1183C>T, XM_024448269.2:c.1183C>T, XM_024448269.1:c.1183C>T, XM_017016989.2:c.1183C>T, XM_017016989.1:c.1183C>T, XM_047426073.1:c.1183C>T, XM_047426045.1:c.1183C>T, XM_047426058.1:c.1183C>T, XM_047426056.1:c.1183C>T, XM_047426054.1:c.1183C>T, XM_047426055.1:c.1183C>T, XM_047426046.1:c.1183C>T, XM_047426066.1:c.1183C>T, XM_047426061.1:c.1183C>T, XM_047426064.1:c.1183C>T, XM_047426044.1:c.1183C>T, XM_047426059.1:c.1183C>T, XM_047426062.1:c.1183C>T, XM_047426052.1:c.1183C>T, XM_047426063.1:c.1183C>T, XM_047426049.1:c.1183C>T, XM_047426070.1:c.1183C>T, XM_047426048.1:c.1183C>T, XM_047426051.1:c.1183C>T, XM_047426060.1:c.1183C>T, XM_047426047.1:c.1183C>T, XM_047426050.1:c.1183C>T, XM_047426068.1:c.1183C>T, XM_047426069.1:c.1183C>T, XM_047426065.1:c.1183C>T, XM_047426057.1:c.1183C>T, XM_047426067.1:c.1183C>T, XM_047426053.1:c.1183C>T, XM_047426072.1:c.1183C>T, XM_047426071.1:c.1183C>T, NP_055618.2:p.Pro395Ser, NP_001317665.1:p.Pro395Ser, NP_001265453.1:p.Pro395Ser, NP_001265454.1:p.Pro395Ser, NP_001317661.1:p.Pro395Ser, NP_001317662.1:p.Pro395Ser, NP_001317667.1:p.Pro395Ser, NP_001317666.1:p.Pro395Ser, NP_001317664.1:p.Pro395Ser, NP_001317663.1:p.Pro395Ser, XP_011538715.1:p.Pro395Ser, XP_016872483.1:p.Pro395Ser, XP_011538712.1:p.Pro395Ser, XP_011538708.1:p.Pro395Ser, XP_011538717.1:p.Pro395Ser, XP_011538722.1:p.Pro395Ser, XP_011538721.1:p.Pro395Ser, XP_024304035.1:p.Pro395Ser, XP_016872475.1:p.Pro395Ser, XP_024304033.1:p.Pro395Ser, XP_024304037.1:p.Pro395Ser, XP_016872478.1:p.Pro395Ser, XP_047282029.1:p.Pro395Ser, XP_047282001.1:p.Pro395Ser, XP_047282014.1:p.Pro395Ser, XP_047282012.1:p.Pro395Ser, XP_047282010.1:p.Pro395Ser, XP_047282011.1:p.Pro395Ser, XP_047282002.1:p.Pro395Ser, XP_047282022.1:p.Pro395Ser, XP_047282017.1:p.Pro395Ser, XP_047282020.1:p.Pro395Ser, XP_047282000.1:p.Pro395Ser, XP_047282015.1:p.Pro395Ser, XP_047282018.1:p.Pro395Ser, XP_047282008.1:p.Pro395Ser, XP_047282019.1:p.Pro395Ser, XP_047282005.1:p.Pro395Ser, XP_047282026.1:p.Pro395Ser, XP_047282004.1:p.Pro395Ser, XP_047282007.1:p.Pro395Ser, XP_047282016.1:p.Pro395Ser, XP_047282003.1:p.Pro395Ser, XP_047282006.1:p.Pro395Ser, XP_047282024.1:p.Pro395Ser, XP_047282025.1:p.Pro395Ser, XP_047282021.1:p.Pro395Ser, XP_047282013.1:p.Pro395Ser, XP_047282023.1:p.Pro395Ser, XP_047282009.1:p.Pro395Ser, XP_047282028.1:p.Pro395Ser, XP_047282027.1:p.Pro395Ser

                              15.

                              rs1468997364 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                10:96158736 (GRCh38)
                                10:97918493 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:96158735:C:T
                                Gene:
                                ZNF518A (Varview)
                                Functional Consequence:
                                coding_sequence_variant,intron_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000011/3 (TOPMED)
                                HGVS:
                                NC_000010.11:g.96158736C>T, NW_003871070.1:g.120878G>A, NG_033267.2:g.34517C>T, NM_014803.4:c.2414C>T, NM_014803.3:c.2414C>T, NM_001330736.2:c.2414C>T, NM_001330736.1:c.2414C>T, NM_001278524.2:c.2414C>T, NM_001278524.1:c.2414C>T, NM_001278525.2:c.2414C>T, NM_001278525.1:c.2414C>T, NM_001330732.2:c.2414C>T, NM_001330732.1:c.2414C>T, NM_001278526.2:c.824C>T, NM_001278526.1:c.824C>T, NM_001330733.1:c.2414C>T, NM_001330738.1:c.2414C>T, NM_001330737.1:c.2414C>T, NM_001330735.1:c.2414C>T, NM_001330734.1:c.2414C>T, NC_000010.10:g.97918493C>T, XM_011540413.4:c.2414C>T, XM_011540413.3:c.2414C>T, XM_011540413.2:c.2414C>T, XM_011540413.1:c.2414C>T, XM_017016994.3:c.2414C>T, XM_017016994.2:c.2414C>T, XM_017016994.1:c.2414C>T, XM_011540410.3:c.2414C>T, XM_011540410.2:c.2414C>T, XM_011540410.1:c.2414C>T, XM_011540406.3:c.2414C>T, XM_011540406.2:c.2414C>T, XM_011540406.1:c.2414C>T, XM_011540415.3:c.2414C>T, XM_011540415.2:c.2414C>T, XM_011540415.1:c.2414C>T, XM_011540420.3:c.2414C>T, XM_011540420.2:c.2414C>T, XM_011540420.1:c.2414C>T, XM_011540419.3:c.2414C>T, XM_011540419.2:c.2414C>T, XM_011540419.1:c.2414C>T, XM_024448267.2:c.2414C>T, XM_024448267.1:c.2414C>T, XM_017016986.2:c.2414C>T, XM_017016986.1:c.2414C>T, XM_024448265.2:c.2414C>T, XM_024448265.1:c.2414C>T, XM_024448269.2:c.2414C>T, XM_024448269.1:c.2414C>T, XM_017016989.2:c.2414C>T, XM_017016989.1:c.2414C>T, XM_047426073.1:c.2414C>T, XM_047426045.1:c.2414C>T, XM_047426058.1:c.2414C>T, XM_047426056.1:c.2414C>T, XM_047426054.1:c.2414C>T, XM_047426055.1:c.2414C>T, XM_047426046.1:c.2414C>T, XM_047426066.1:c.2414C>T, XM_047426061.1:c.2414C>T, XM_047426064.1:c.2414C>T, XM_047426044.1:c.2414C>T, XM_047426059.1:c.2414C>T, XM_047426062.1:c.2414C>T, XM_047426052.1:c.2414C>T, XM_047426063.1:c.2414C>T, XM_047426049.1:c.2414C>T, XM_047426070.1:c.2414C>T, XM_047426048.1:c.2414C>T, XM_047426051.1:c.2414C>T, XM_047426060.1:c.2414C>T, XM_047426047.1:c.2414C>T, XM_047426050.1:c.2414C>T, XM_047426068.1:c.2414C>T, XM_047426069.1:c.2414C>T, XM_047426065.1:c.2414C>T, XM_047426057.1:c.2414C>T, XM_047426067.1:c.2414C>T, XM_047426053.1:c.2414C>T, XM_047426072.1:c.2414C>T, XM_047426071.1:c.2414C>T, NP_055618.2:p.Pro805Leu, NP_001317665.1:p.Pro805Leu, NP_001265453.1:p.Pro805Leu, NP_001265454.1:p.Pro805Leu, NP_001317661.1:p.Pro805Leu, NP_001265455.1:p.Pro275Leu, NP_001317662.1:p.Pro805Leu, NP_001317667.1:p.Pro805Leu, NP_001317666.1:p.Pro805Leu, NP_001317664.1:p.Pro805Leu, NP_001317663.1:p.Pro805Leu, XP_011538715.1:p.Pro805Leu, XP_016872483.1:p.Pro805Leu, XP_011538712.1:p.Pro805Leu, XP_011538708.1:p.Pro805Leu, XP_011538717.1:p.Pro805Leu, XP_011538722.1:p.Pro805Leu, XP_011538721.1:p.Pro805Leu, XP_024304035.1:p.Pro805Leu, XP_016872475.1:p.Pro805Leu, XP_024304033.1:p.Pro805Leu, XP_024304037.1:p.Pro805Leu, XP_016872478.1:p.Pro805Leu, XP_047282029.1:p.Pro805Leu, XP_047282001.1:p.Pro805Leu, XP_047282014.1:p.Pro805Leu, XP_047282012.1:p.Pro805Leu, XP_047282010.1:p.Pro805Leu, XP_047282011.1:p.Pro805Leu, XP_047282002.1:p.Pro805Leu, XP_047282022.1:p.Pro805Leu, XP_047282017.1:p.Pro805Leu, XP_047282020.1:p.Pro805Leu, XP_047282000.1:p.Pro805Leu, XP_047282015.1:p.Pro805Leu, XP_047282018.1:p.Pro805Leu, XP_047282008.1:p.Pro805Leu, XP_047282019.1:p.Pro805Leu, XP_047282005.1:p.Pro805Leu, XP_047282026.1:p.Pro805Leu, XP_047282004.1:p.Pro805Leu, XP_047282007.1:p.Pro805Leu, XP_047282016.1:p.Pro805Leu, XP_047282003.1:p.Pro805Leu, XP_047282006.1:p.Pro805Leu, XP_047282024.1:p.Pro805Leu, XP_047282025.1:p.Pro805Leu, XP_047282021.1:p.Pro805Leu, XP_047282013.1:p.Pro805Leu, XP_047282023.1:p.Pro805Leu, XP_047282009.1:p.Pro805Leu, XP_047282028.1:p.Pro805Leu, XP_047282027.1:p.Pro805Leu

                                16.

                                rs1467297321 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  10:96157500 (GRCh38)
                                  10:97917257 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:96157499:C:A
                                  Gene:
                                  ZNF518A (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000010.11:g.96157500C>A, NW_003871070.1:g.122114G>T, NG_033267.2:g.33281C>A, NM_014803.4:c.1178C>A, NM_014803.3:c.1178C>A, NM_001330736.2:c.1178C>A, NM_001330736.1:c.1178C>A, NM_001278524.2:c.1178C>A, NM_001278524.1:c.1178C>A, NM_001278525.2:c.1178C>A, NM_001278525.1:c.1178C>A, NM_001330732.2:c.1178C>A, NM_001330732.1:c.1178C>A, NM_001330733.1:c.1178C>A, NM_001330738.1:c.1178C>A, NM_001330737.1:c.1178C>A, NM_001330735.1:c.1178C>A, NM_001330734.1:c.1178C>A, NC_000010.10:g.97917257C>A, XM_011540413.4:c.1178C>A, XM_011540413.3:c.1178C>A, XM_011540413.2:c.1178C>A, XM_011540413.1:c.1178C>A, XM_017016994.3:c.1178C>A, XM_017016994.2:c.1178C>A, XM_017016994.1:c.1178C>A, XM_011540410.3:c.1178C>A, XM_011540410.2:c.1178C>A, XM_011540410.1:c.1178C>A, XM_011540406.3:c.1178C>A, XM_011540406.2:c.1178C>A, XM_011540406.1:c.1178C>A, XM_011540415.3:c.1178C>A, XM_011540415.2:c.1178C>A, XM_011540415.1:c.1178C>A, XM_011540420.3:c.1178C>A, XM_011540420.2:c.1178C>A, XM_011540420.1:c.1178C>A, XM_011540419.3:c.1178C>A, XM_011540419.2:c.1178C>A, XM_011540419.1:c.1178C>A, XM_024448267.2:c.1178C>A, XM_024448267.1:c.1178C>A, XM_017016986.2:c.1178C>A, XM_017016986.1:c.1178C>A, XM_024448265.2:c.1178C>A, XM_024448265.1:c.1178C>A, XM_024448269.2:c.1178C>A, XM_024448269.1:c.1178C>A, XM_017016989.2:c.1178C>A, XM_017016989.1:c.1178C>A, XM_047426073.1:c.1178C>A, XM_047426045.1:c.1178C>A, XM_047426058.1:c.1178C>A, XM_047426056.1:c.1178C>A, XM_047426054.1:c.1178C>A, XM_047426055.1:c.1178C>A, XM_047426046.1:c.1178C>A, XM_047426066.1:c.1178C>A, XM_047426061.1:c.1178C>A, XM_047426064.1:c.1178C>A, XM_047426044.1:c.1178C>A, XM_047426059.1:c.1178C>A, XM_047426062.1:c.1178C>A, XM_047426052.1:c.1178C>A, XM_047426063.1:c.1178C>A, XM_047426049.1:c.1178C>A, XM_047426070.1:c.1178C>A, XM_047426048.1:c.1178C>A, XM_047426051.1:c.1178C>A, XM_047426060.1:c.1178C>A, XM_047426047.1:c.1178C>A, XM_047426050.1:c.1178C>A, XM_047426068.1:c.1178C>A, XM_047426069.1:c.1178C>A, XM_047426065.1:c.1178C>A, XM_047426057.1:c.1178C>A, XM_047426067.1:c.1178C>A, XM_047426053.1:c.1178C>A, XM_047426072.1:c.1178C>A, XM_047426071.1:c.1178C>A, NP_055618.2:p.Pro393Gln, NP_001317665.1:p.Pro393Gln, NP_001265453.1:p.Pro393Gln, NP_001265454.1:p.Pro393Gln, NP_001317661.1:p.Pro393Gln, NP_001317662.1:p.Pro393Gln, NP_001317667.1:p.Pro393Gln, NP_001317666.1:p.Pro393Gln, NP_001317664.1:p.Pro393Gln, NP_001317663.1:p.Pro393Gln, XP_011538715.1:p.Pro393Gln, XP_016872483.1:p.Pro393Gln, XP_011538712.1:p.Pro393Gln, XP_011538708.1:p.Pro393Gln, XP_011538717.1:p.Pro393Gln, XP_011538722.1:p.Pro393Gln, XP_011538721.1:p.Pro393Gln, XP_024304035.1:p.Pro393Gln, XP_016872475.1:p.Pro393Gln, XP_024304033.1:p.Pro393Gln, XP_024304037.1:p.Pro393Gln, XP_016872478.1:p.Pro393Gln, XP_047282029.1:p.Pro393Gln, XP_047282001.1:p.Pro393Gln, XP_047282014.1:p.Pro393Gln, XP_047282012.1:p.Pro393Gln, XP_047282010.1:p.Pro393Gln, XP_047282011.1:p.Pro393Gln, XP_047282002.1:p.Pro393Gln, XP_047282022.1:p.Pro393Gln, XP_047282017.1:p.Pro393Gln, XP_047282020.1:p.Pro393Gln, XP_047282000.1:p.Pro393Gln, XP_047282015.1:p.Pro393Gln, XP_047282018.1:p.Pro393Gln, XP_047282008.1:p.Pro393Gln, XP_047282019.1:p.Pro393Gln, XP_047282005.1:p.Pro393Gln, XP_047282026.1:p.Pro393Gln, XP_047282004.1:p.Pro393Gln, XP_047282007.1:p.Pro393Gln, XP_047282016.1:p.Pro393Gln, XP_047282003.1:p.Pro393Gln, XP_047282006.1:p.Pro393Gln, XP_047282024.1:p.Pro393Gln, XP_047282025.1:p.Pro393Gln, XP_047282021.1:p.Pro393Gln, XP_047282013.1:p.Pro393Gln, XP_047282023.1:p.Pro393Gln, XP_047282009.1:p.Pro393Gln, XP_047282028.1:p.Pro393Gln, XP_047282027.1:p.Pro393Gln

                                  17.

                                  rs1463444568 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    10:96160006 (GRCh38)
                                    10:97919763 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:96160005:A:G
                                    Gene:
                                    ZNF518A (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000010.11:g.96160006A>G, NW_003871070.1:g.119608T>C, NG_033267.2:g.35787A>G, NM_014803.4:c.3684A>G, NM_014803.3:c.3684A>G, NM_001330736.2:c.3684A>G, NM_001330736.1:c.3684A>G, NM_001278524.2:c.3684A>G, NM_001278524.1:c.3684A>G, NM_001278525.2:c.3684A>G, NM_001278525.1:c.3684A>G, NM_001330732.2:c.3684A>G, NM_001330732.1:c.3684A>G, NM_001278526.2:c.2094A>G, NM_001278526.1:c.2094A>G, NM_001330733.1:c.3684A>G, NM_001330738.1:c.3684A>G, NM_001330737.1:c.3684A>G, NM_001330735.1:c.3684A>G, NM_001330734.1:c.3684A>G, NC_000010.10:g.97919763A>G, XM_011540413.4:c.3684A>G, XM_011540413.3:c.3684A>G, XM_011540413.2:c.3684A>G, XM_011540413.1:c.3684A>G, XM_017016994.3:c.3684A>G, XM_017016994.2:c.3684A>G, XM_017016994.1:c.3684A>G, XM_011540410.3:c.3684A>G, XM_011540410.2:c.3684A>G, XM_011540410.1:c.3684A>G, XM_011540406.3:c.3684A>G, XM_011540406.2:c.3684A>G, XM_011540406.1:c.3684A>G, XM_011540415.3:c.3684A>G, XM_011540415.2:c.3684A>G, XM_011540415.1:c.3684A>G, XM_011540420.3:c.3684A>G, XM_011540420.2:c.3684A>G, XM_011540420.1:c.3684A>G, XM_011540419.3:c.3684A>G, XM_011540419.2:c.3684A>G, XM_011540419.1:c.3684A>G, XM_024448267.2:c.3684A>G, XM_024448267.1:c.3684A>G, XM_017016986.2:c.3684A>G, XM_017016986.1:c.3684A>G, XM_024448265.2:c.3684A>G, XM_024448265.1:c.3684A>G, XM_024448269.2:c.3684A>G, XM_024448269.1:c.3684A>G, XM_017016989.2:c.3684A>G, XM_017016989.1:c.3684A>G, XM_047426073.1:c.3684A>G, XM_047426045.1:c.3684A>G, XM_047426058.1:c.3684A>G, XM_047426056.1:c.3684A>G, XM_047426054.1:c.3684A>G, XM_047426055.1:c.3684A>G, XM_047426046.1:c.3684A>G, XM_047426066.1:c.3684A>G, XM_047426061.1:c.3684A>G, XM_047426064.1:c.3684A>G, XM_047426044.1:c.3684A>G, XM_047426059.1:c.3684A>G, XM_047426062.1:c.3684A>G, XM_047426052.1:c.3684A>G, XM_047426063.1:c.3684A>G, XM_047426049.1:c.3684A>G, XM_047426070.1:c.3684A>G, XM_047426048.1:c.3684A>G, XM_047426051.1:c.3684A>G, XM_047426060.1:c.3684A>G, XM_047426047.1:c.3684A>G, XM_047426050.1:c.3684A>G, XM_047426068.1:c.3684A>G, XM_047426069.1:c.3684A>G, XM_047426065.1:c.3684A>G, XM_047426057.1:c.3684A>G, XM_047426067.1:c.3684A>G, XM_047426053.1:c.3684A>G, XM_047426072.1:c.3684A>G, XM_047426071.1:c.3684A>G

                                    18.

                                    rs1462704868 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      10:96160103 (GRCh38)
                                      10:97919860 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:96160102:C:G,NC_000010.11:96160102:C:T
                                      Gene:
                                      ZNF518A (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      NC_000010.11:g.96160103C>G, NC_000010.11:g.96160103C>T, NW_003871070.1:g.119511G>C, NW_003871070.1:g.119511G>A, NG_033267.2:g.35884C>G, NG_033267.2:g.35884C>T, NM_014803.4:c.3781C>G, NM_014803.4:c.3781C>T, NM_014803.3:c.3781C>G, NM_014803.3:c.3781C>T, NM_001330736.2:c.3781C>G, NM_001330736.2:c.3781C>T, NM_001330736.1:c.3781C>G, NM_001330736.1:c.3781C>T, NM_001278524.2:c.3781C>G, NM_001278524.2:c.3781C>T, NM_001278524.1:c.3781C>G, NM_001278524.1:c.3781C>T, NM_001278525.2:c.3781C>G, NM_001278525.2:c.3781C>T, NM_001278525.1:c.3781C>G, NM_001278525.1:c.3781C>T, NM_001330732.2:c.3781C>G, NM_001330732.2:c.3781C>T, NM_001330732.1:c.3781C>G, NM_001330732.1:c.3781C>T, NM_001278526.2:c.2191C>G, NM_001278526.2:c.2191C>T, NM_001278526.1:c.2191C>G, NM_001278526.1:c.2191C>T, NM_001330733.1:c.3781C>G, NM_001330733.1:c.3781C>T, NM_001330738.1:c.3781C>G, NM_001330738.1:c.3781C>T, NM_001330737.1:c.3781C>G, NM_001330737.1:c.3781C>T, NM_001330735.1:c.3781C>G, NM_001330735.1:c.3781C>T, NM_001330734.1:c.3781C>G, NM_001330734.1:c.3781C>T, NC_000010.10:g.97919860C>G, NC_000010.10:g.97919860C>T, XM_011540413.4:c.3781C>G, XM_011540413.4:c.3781C>T, XM_011540413.3:c.3781C>G, XM_011540413.3:c.3781C>T, XM_011540413.2:c.3781C>G, XM_011540413.2:c.3781C>T, XM_011540413.1:c.3781C>G, XM_011540413.1:c.3781C>T, XM_017016994.3:c.3781C>G, XM_017016994.3:c.3781C>T, XM_017016994.2:c.3781C>G, XM_017016994.2:c.3781C>T, XM_017016994.1:c.3781C>G, XM_017016994.1:c.3781C>T, XM_011540410.3:c.3781C>G, XM_011540410.3:c.3781C>T, XM_011540410.2:c.3781C>G, XM_011540410.2:c.3781C>T, XM_011540410.1:c.3781C>G, XM_011540410.1:c.3781C>T, XM_011540406.3:c.3781C>G, XM_011540406.3:c.3781C>T, XM_011540406.2:c.3781C>G, XM_011540406.2:c.3781C>T, XM_011540406.1:c.3781C>G, XM_011540406.1:c.3781C>T, XM_011540415.3:c.3781C>G, XM_011540415.3:c.3781C>T, XM_011540415.2:c.3781C>G, XM_011540415.2:c.3781C>T, XM_011540415.1:c.3781C>G, XM_011540415.1:c.3781C>T, XM_011540420.3:c.3781C>G, XM_011540420.3:c.3781C>T, XM_011540420.2:c.3781C>G, XM_011540420.2:c.3781C>T, XM_011540420.1:c.3781C>G, XM_011540420.1:c.3781C>T, XM_011540419.3:c.3781C>G, XM_011540419.3:c.3781C>T, XM_011540419.2:c.3781C>G, XM_011540419.2:c.3781C>T, XM_011540419.1:c.3781C>G, XM_011540419.1:c.3781C>T, XM_024448267.2:c.3781C>G, XM_024448267.2:c.3781C>T, XM_024448267.1:c.3781C>G, XM_024448267.1:c.3781C>T, XM_017016986.2:c.3781C>G, XM_017016986.2:c.3781C>T, XM_017016986.1:c.3781C>G, XM_017016986.1:c.3781C>T, XM_024448265.2:c.3781C>G, XM_024448265.2:c.3781C>T, XM_024448265.1:c.3781C>G, XM_024448265.1:c.3781C>T, XM_024448269.2:c.3781C>G, XM_024448269.2:c.3781C>T, XM_024448269.1:c.3781C>G, XM_024448269.1:c.3781C>T, XM_017016989.2:c.3781C>G, XM_017016989.2:c.3781C>T, XM_017016989.1:c.3781C>G, XM_017016989.1:c.3781C>T, XM_047426073.1:c.3781C>G, XM_047426073.1:c.3781C>T, XM_047426045.1:c.3781C>G, XM_047426045.1:c.3781C>T, XM_047426058.1:c.3781C>G, XM_047426058.1:c.3781C>T, XM_047426056.1:c.3781C>G, XM_047426056.1:c.3781C>T, XM_047426054.1:c.3781C>G, XM_047426054.1:c.3781C>T, XM_047426055.1:c.3781C>G, XM_047426055.1:c.3781C>T, XM_047426046.1:c.3781C>G, XM_047426046.1:c.3781C>T, XM_047426066.1:c.3781C>G, XM_047426066.1:c.3781C>T, XM_047426061.1:c.3781C>G, XM_047426061.1:c.3781C>T, XM_047426064.1:c.3781C>G, XM_047426064.1:c.3781C>T, XM_047426044.1:c.3781C>G, XM_047426044.1:c.3781C>T, XM_047426059.1:c.3781C>G, XM_047426059.1:c.3781C>T, XM_047426062.1:c.3781C>G, XM_047426062.1:c.3781C>T, XM_047426052.1:c.3781C>G, XM_047426052.1:c.3781C>T, XM_047426063.1:c.3781C>G, XM_047426063.1:c.3781C>T, XM_047426049.1:c.3781C>G, XM_047426049.1:c.3781C>T, XM_047426070.1:c.3781C>G, XM_047426070.1:c.3781C>T, XM_047426048.1:c.3781C>G, XM_047426048.1:c.3781C>T, XM_047426051.1:c.3781C>G, XM_047426051.1:c.3781C>T, XM_047426060.1:c.3781C>G, XM_047426060.1:c.3781C>T, XM_047426047.1:c.3781C>G, XM_047426047.1:c.3781C>T, XM_047426050.1:c.3781C>G, XM_047426050.1:c.3781C>T, XM_047426068.1:c.3781C>G, XM_047426068.1:c.3781C>T, XM_047426069.1:c.3781C>G, XM_047426069.1:c.3781C>T, XM_047426065.1:c.3781C>G, XM_047426065.1:c.3781C>T, XM_047426057.1:c.3781C>G, XM_047426057.1:c.3781C>T, XM_047426067.1:c.3781C>G, XM_047426067.1:c.3781C>T, XM_047426053.1:c.3781C>G, XM_047426053.1:c.3781C>T, XM_047426072.1:c.3781C>G, XM_047426072.1:c.3781C>T, XM_047426071.1:c.3781C>G, XM_047426071.1:c.3781C>T, NP_055618.2:p.His1261Asp, NP_055618.2:p.His1261Tyr, NP_001317665.1:p.His1261Asp, NP_001317665.1:p.His1261Tyr, NP_001265453.1:p.His1261Asp, NP_001265453.1:p.His1261Tyr, NP_001265454.1:p.His1261Asp, NP_001265454.1:p.His1261Tyr, NP_001317661.1:p.His1261Asp, NP_001317661.1:p.His1261Tyr, NP_001265455.1:p.His731Asp, NP_001265455.1:p.His731Tyr, NP_001317662.1:p.His1261Asp, NP_001317662.1:p.His1261Tyr, NP_001317667.1:p.His1261Asp, NP_001317667.1:p.His1261Tyr, NP_001317666.1:p.His1261Asp, NP_001317666.1:p.His1261Tyr, NP_001317664.1:p.His1261Asp, NP_001317664.1:p.His1261Tyr, NP_001317663.1:p.His1261Asp, NP_001317663.1:p.His1261Tyr, XP_011538715.1:p.His1261Asp, XP_011538715.1:p.His1261Tyr, XP_016872483.1:p.His1261Asp, XP_016872483.1:p.His1261Tyr, XP_011538712.1:p.His1261Asp, XP_011538712.1:p.His1261Tyr, XP_011538708.1:p.His1261Asp, XP_011538708.1:p.His1261Tyr, XP_011538717.1:p.His1261Asp, XP_011538717.1:p.His1261Tyr, XP_011538722.1:p.His1261Asp, XP_011538722.1:p.His1261Tyr, XP_011538721.1:p.His1261Asp, XP_011538721.1:p.His1261Tyr, XP_024304035.1:p.His1261Asp, XP_024304035.1:p.His1261Tyr, XP_016872475.1:p.His1261Asp, XP_016872475.1:p.His1261Tyr, XP_024304033.1:p.His1261Asp, XP_024304033.1:p.His1261Tyr, XP_024304037.1:p.His1261Asp, XP_024304037.1:p.His1261Tyr, XP_016872478.1:p.His1261Asp, XP_016872478.1:p.His1261Tyr, XP_047282029.1:p.His1261Asp, XP_047282029.1:p.His1261Tyr, XP_047282001.1:p.His1261Asp, XP_047282001.1:p.His1261Tyr, XP_047282014.1:p.His1261Asp, XP_047282014.1:p.His1261Tyr, XP_047282012.1:p.His1261Asp, XP_047282012.1:p.His1261Tyr, XP_047282010.1:p.His1261Asp, XP_047282010.1:p.His1261Tyr, XP_047282011.1:p.His1261Asp, XP_047282011.1:p.His1261Tyr, XP_047282002.1:p.His1261Asp, XP_047282002.1:p.His1261Tyr, XP_047282022.1:p.His1261Asp, XP_047282022.1:p.His1261Tyr, XP_047282017.1:p.His1261Asp, XP_047282017.1:p.His1261Tyr, XP_047282020.1:p.His1261Asp, XP_047282020.1:p.His1261Tyr, XP_047282000.1:p.His1261Asp, XP_047282000.1:p.His1261Tyr, XP_047282015.1:p.His1261Asp, XP_047282015.1:p.His1261Tyr, XP_047282018.1:p.His1261Asp, XP_047282018.1:p.His1261Tyr, XP_047282008.1:p.His1261Asp, XP_047282008.1:p.His1261Tyr, XP_047282019.1:p.His1261Asp, XP_047282019.1:p.His1261Tyr, XP_047282005.1:p.His1261Asp, XP_047282005.1:p.His1261Tyr, XP_047282026.1:p.His1261Asp, XP_047282026.1:p.His1261Tyr, XP_047282004.1:p.His1261Asp, XP_047282004.1:p.His1261Tyr, XP_047282007.1:p.His1261Asp, XP_047282007.1:p.His1261Tyr, XP_047282016.1:p.His1261Asp, XP_047282016.1:p.His1261Tyr, XP_047282003.1:p.His1261Asp, XP_047282003.1:p.His1261Tyr, XP_047282006.1:p.His1261Asp, XP_047282006.1:p.His1261Tyr, XP_047282024.1:p.His1261Asp, XP_047282024.1:p.His1261Tyr, XP_047282025.1:p.His1261Asp, XP_047282025.1:p.His1261Tyr, XP_047282021.1:p.His1261Asp, XP_047282021.1:p.His1261Tyr, XP_047282013.1:p.His1261Asp, XP_047282013.1:p.His1261Tyr, XP_047282023.1:p.His1261Asp, XP_047282023.1:p.His1261Tyr, XP_047282009.1:p.His1261Asp, XP_047282009.1:p.His1261Tyr, XP_047282028.1:p.His1261Asp, XP_047282028.1:p.His1261Tyr, XP_047282027.1:p.His1261Asp, XP_047282027.1:p.His1261Tyr

                                      19.

                                      rs1462114021 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G [Show Flanks]
                                        Chromosome:
                                        10:96159561 (GRCh38)
                                        10:97919318 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:96159560:A:C,NC_000010.11:96159560:A:G
                                        Gene:
                                        ZNF518A (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,intron_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000010.11:g.96159561A>C, NC_000010.11:g.96159561A>G, NW_003871070.1:g.120053T>G, NW_003871070.1:g.120053T>C, NG_033267.2:g.35342A>C, NG_033267.2:g.35342A>G, NM_014803.4:c.3239A>C, NM_014803.4:c.3239A>G, NM_014803.3:c.3239A>C, NM_014803.3:c.3239A>G, NM_001330736.2:c.3239A>C, NM_001330736.2:c.3239A>G, NM_001330736.1:c.3239A>C, NM_001330736.1:c.3239A>G, NM_001278524.2:c.3239A>C, NM_001278524.2:c.3239A>G, NM_001278524.1:c.3239A>C, NM_001278524.1:c.3239A>G, NM_001278525.2:c.3239A>C, NM_001278525.2:c.3239A>G, NM_001278525.1:c.3239A>C, NM_001278525.1:c.3239A>G, NM_001330732.2:c.3239A>C, NM_001330732.2:c.3239A>G, NM_001330732.1:c.3239A>C, NM_001330732.1:c.3239A>G, NM_001278526.2:c.1649A>C, NM_001278526.2:c.1649A>G, NM_001278526.1:c.1649A>C, NM_001278526.1:c.1649A>G, NM_001330733.1:c.3239A>C, NM_001330733.1:c.3239A>G, NM_001330738.1:c.3239A>C, NM_001330738.1:c.3239A>G, NM_001330737.1:c.3239A>C, NM_001330737.1:c.3239A>G, NM_001330735.1:c.3239A>C, NM_001330735.1:c.3239A>G, NM_001330734.1:c.3239A>C, NM_001330734.1:c.3239A>G, NC_000010.10:g.97919318A>C, NC_000010.10:g.97919318A>G, XM_011540413.4:c.3239A>C, XM_011540413.4:c.3239A>G, XM_011540413.3:c.3239A>C, XM_011540413.3:c.3239A>G, XM_011540413.2:c.3239A>C, XM_011540413.2:c.3239A>G, XM_011540413.1:c.3239A>C, XM_011540413.1:c.3239A>G, XM_017016994.3:c.3239A>C, XM_017016994.3:c.3239A>G, XM_017016994.2:c.3239A>C, XM_017016994.2:c.3239A>G, XM_017016994.1:c.3239A>C, XM_017016994.1:c.3239A>G, XM_011540410.3:c.3239A>C, XM_011540410.3:c.3239A>G, XM_011540410.2:c.3239A>C, XM_011540410.2:c.3239A>G, XM_011540410.1:c.3239A>C, XM_011540410.1:c.3239A>G, XM_011540406.3:c.3239A>C, XM_011540406.3:c.3239A>G, XM_011540406.2:c.3239A>C, XM_011540406.2:c.3239A>G, XM_011540406.1:c.3239A>C, XM_011540406.1:c.3239A>G, XM_011540415.3:c.3239A>C, XM_011540415.3:c.3239A>G, XM_011540415.2:c.3239A>C, XM_011540415.2:c.3239A>G, XM_011540415.1:c.3239A>C, XM_011540415.1:c.3239A>G, XM_011540420.3:c.3239A>C, XM_011540420.3:c.3239A>G, XM_011540420.2:c.3239A>C, XM_011540420.2:c.3239A>G, XM_011540420.1:c.3239A>C, XM_011540420.1:c.3239A>G, XM_011540419.3:c.3239A>C, XM_011540419.3:c.3239A>G, XM_011540419.2:c.3239A>C, XM_011540419.2:c.3239A>G, XM_011540419.1:c.3239A>C, XM_011540419.1:c.3239A>G, XM_024448267.2:c.3239A>C, XM_024448267.2:c.3239A>G, XM_024448267.1:c.3239A>C, XM_024448267.1:c.3239A>G, XM_017016986.2:c.3239A>C, XM_017016986.2:c.3239A>G, XM_017016986.1:c.3239A>C, XM_017016986.1:c.3239A>G, XM_024448265.2:c.3239A>C, XM_024448265.2:c.3239A>G, XM_024448265.1:c.3239A>C, XM_024448265.1:c.3239A>G, XM_024448269.2:c.3239A>C, XM_024448269.2:c.3239A>G, XM_024448269.1:c.3239A>C, XM_024448269.1:c.3239A>G, XM_017016989.2:c.3239A>C, XM_017016989.2:c.3239A>G, XM_017016989.1:c.3239A>C, XM_017016989.1:c.3239A>G, XM_047426073.1:c.3239A>C, XM_047426073.1:c.3239A>G, XM_047426045.1:c.3239A>C, XM_047426045.1:c.3239A>G, XM_047426058.1:c.3239A>C, XM_047426058.1:c.3239A>G, XM_047426056.1:c.3239A>C, XM_047426056.1:c.3239A>G, XM_047426054.1:c.3239A>C, XM_047426054.1:c.3239A>G, XM_047426055.1:c.3239A>C, XM_047426055.1:c.3239A>G, XM_047426046.1:c.3239A>C, XM_047426046.1:c.3239A>G, XM_047426066.1:c.3239A>C, XM_047426066.1:c.3239A>G, XM_047426061.1:c.3239A>C, XM_047426061.1:c.3239A>G, XM_047426064.1:c.3239A>C, XM_047426064.1:c.3239A>G, XM_047426044.1:c.3239A>C, XM_047426044.1:c.3239A>G, XM_047426059.1:c.3239A>C, XM_047426059.1:c.3239A>G, XM_047426062.1:c.3239A>C, XM_047426062.1:c.3239A>G, XM_047426052.1:c.3239A>C, XM_047426052.1:c.3239A>G, XM_047426063.1:c.3239A>C, XM_047426063.1:c.3239A>G, XM_047426049.1:c.3239A>C, XM_047426049.1:c.3239A>G, XM_047426070.1:c.3239A>C, XM_047426070.1:c.3239A>G, XM_047426048.1:c.3239A>C, XM_047426048.1:c.3239A>G, XM_047426051.1:c.3239A>C, XM_047426051.1:c.3239A>G, XM_047426060.1:c.3239A>C, XM_047426060.1:c.3239A>G, XM_047426047.1:c.3239A>C, XM_047426047.1:c.3239A>G, XM_047426050.1:c.3239A>C, XM_047426050.1:c.3239A>G, XM_047426068.1:c.3239A>C, XM_047426068.1:c.3239A>G, XM_047426069.1:c.3239A>C, XM_047426069.1:c.3239A>G, XM_047426065.1:c.3239A>C, XM_047426065.1:c.3239A>G, XM_047426057.1:c.3239A>C, XM_047426057.1:c.3239A>G, XM_047426067.1:c.3239A>C, XM_047426067.1:c.3239A>G, XM_047426053.1:c.3239A>C, XM_047426053.1:c.3239A>G, XM_047426072.1:c.3239A>C, XM_047426072.1:c.3239A>G, XM_047426071.1:c.3239A>C, XM_047426071.1:c.3239A>G, NP_055618.2:p.Asp1080Ala, NP_055618.2:p.Asp1080Gly, NP_001317665.1:p.Asp1080Ala, NP_001317665.1:p.Asp1080Gly, NP_001265453.1:p.Asp1080Ala, NP_001265453.1:p.Asp1080Gly, NP_001265454.1:p.Asp1080Ala, NP_001265454.1:p.Asp1080Gly, NP_001317661.1:p.Asp1080Ala, NP_001317661.1:p.Asp1080Gly, NP_001265455.1:p.Asp550Ala, NP_001265455.1:p.Asp550Gly, NP_001317662.1:p.Asp1080Ala, NP_001317662.1:p.Asp1080Gly, NP_001317667.1:p.Asp1080Ala, NP_001317667.1:p.Asp1080Gly, NP_001317666.1:p.Asp1080Ala, NP_001317666.1:p.Asp1080Gly, NP_001317664.1:p.Asp1080Ala, NP_001317664.1:p.Asp1080Gly, NP_001317663.1:p.Asp1080Ala, NP_001317663.1:p.Asp1080Gly, XP_011538715.1:p.Asp1080Ala, XP_011538715.1:p.Asp1080Gly, XP_016872483.1:p.Asp1080Ala, XP_016872483.1:p.Asp1080Gly, XP_011538712.1:p.Asp1080Ala, XP_011538712.1:p.Asp1080Gly, XP_011538708.1:p.Asp1080Ala, XP_011538708.1:p.Asp1080Gly, XP_011538717.1:p.Asp1080Ala, XP_011538717.1:p.Asp1080Gly, XP_011538722.1:p.Asp1080Ala, XP_011538722.1:p.Asp1080Gly, XP_011538721.1:p.Asp1080Ala, XP_011538721.1:p.Asp1080Gly, XP_024304035.1:p.Asp1080Ala, XP_024304035.1:p.Asp1080Gly, XP_016872475.1:p.Asp1080Ala, XP_016872475.1:p.Asp1080Gly, XP_024304033.1:p.Asp1080Ala, XP_024304033.1:p.Asp1080Gly, XP_024304037.1:p.Asp1080Ala, XP_024304037.1:p.Asp1080Gly, XP_016872478.1:p.Asp1080Ala, XP_016872478.1:p.Asp1080Gly, XP_047282029.1:p.Asp1080Ala, XP_047282029.1:p.Asp1080Gly, XP_047282001.1:p.Asp1080Ala, XP_047282001.1:p.Asp1080Gly, XP_047282014.1:p.Asp1080Ala, XP_047282014.1:p.Asp1080Gly, XP_047282012.1:p.Asp1080Ala, XP_047282012.1:p.Asp1080Gly, XP_047282010.1:p.Asp1080Ala, XP_047282010.1:p.Asp1080Gly, XP_047282011.1:p.Asp1080Ala, XP_047282011.1:p.Asp1080Gly, XP_047282002.1:p.Asp1080Ala, XP_047282002.1:p.Asp1080Gly, XP_047282022.1:p.Asp1080Ala, XP_047282022.1:p.Asp1080Gly, XP_047282017.1:p.Asp1080Ala, XP_047282017.1:p.Asp1080Gly, XP_047282020.1:p.Asp1080Ala, XP_047282020.1:p.Asp1080Gly, XP_047282000.1:p.Asp1080Ala, XP_047282000.1:p.Asp1080Gly, XP_047282015.1:p.Asp1080Ala, XP_047282015.1:p.Asp1080Gly, XP_047282018.1:p.Asp1080Ala, XP_047282018.1:p.Asp1080Gly, XP_047282008.1:p.Asp1080Ala, XP_047282008.1:p.Asp1080Gly, XP_047282019.1:p.Asp1080Ala, XP_047282019.1:p.Asp1080Gly, XP_047282005.1:p.Asp1080Ala, XP_047282005.1:p.Asp1080Gly, XP_047282026.1:p.Asp1080Ala, XP_047282026.1:p.Asp1080Gly, XP_047282004.1:p.Asp1080Ala, XP_047282004.1:p.Asp1080Gly, XP_047282007.1:p.Asp1080Ala, XP_047282007.1:p.Asp1080Gly, XP_047282016.1:p.Asp1080Ala, XP_047282016.1:p.Asp1080Gly, XP_047282003.1:p.Asp1080Ala, XP_047282003.1:p.Asp1080Gly, XP_047282006.1:p.Asp1080Ala, XP_047282006.1:p.Asp1080Gly, XP_047282024.1:p.Asp1080Ala, XP_047282024.1:p.Asp1080Gly, XP_047282025.1:p.Asp1080Ala, XP_047282025.1:p.Asp1080Gly, XP_047282021.1:p.Asp1080Ala, XP_047282021.1:p.Asp1080Gly, XP_047282013.1:p.Asp1080Ala, XP_047282013.1:p.Asp1080Gly, XP_047282023.1:p.Asp1080Ala, XP_047282023.1:p.Asp1080Gly, XP_047282009.1:p.Asp1080Ala, XP_047282009.1:p.Asp1080Gly, XP_047282028.1:p.Asp1080Ala, XP_047282028.1:p.Asp1080Gly, XP_047282027.1:p.Asp1080Ala, XP_047282027.1:p.Asp1080Gly

                                        20.

                                        rs1461132209 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          10:96157549 (GRCh38)
                                          10:97917306 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:96157548:C:T
                                          Gene:
                                          ZNF518A (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000043/1 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000012/3 (GnomAD_exomes)
                                          HGVS:
                                          NC_000010.11:g.96157549C>T, NW_003871070.1:g.122065G>A, NG_033267.2:g.33330C>T, NM_014803.4:c.1227C>T, NM_014803.3:c.1227C>T, NM_001330736.2:c.1227C>T, NM_001330736.1:c.1227C>T, NM_001278524.2:c.1227C>T, NM_001278524.1:c.1227C>T, NM_001278525.2:c.1227C>T, NM_001278525.1:c.1227C>T, NM_001330732.2:c.1227C>T, NM_001330732.1:c.1227C>T, NM_001330733.1:c.1227C>T, NM_001330738.1:c.1227C>T, NM_001330737.1:c.1227C>T, NM_001330735.1:c.1227C>T, NM_001330734.1:c.1227C>T, NC_000010.10:g.97917306C>T, XM_011540413.4:c.1227C>T, XM_011540413.3:c.1227C>T, XM_011540413.2:c.1227C>T, XM_011540413.1:c.1227C>T, XM_017016994.3:c.1227C>T, XM_017016994.2:c.1227C>T, XM_017016994.1:c.1227C>T, XM_011540410.3:c.1227C>T, XM_011540410.2:c.1227C>T, XM_011540410.1:c.1227C>T, XM_011540406.3:c.1227C>T, XM_011540406.2:c.1227C>T, XM_011540406.1:c.1227C>T, XM_011540415.3:c.1227C>T, XM_011540415.2:c.1227C>T, XM_011540415.1:c.1227C>T, XM_011540420.3:c.1227C>T, XM_011540420.2:c.1227C>T, XM_011540420.1:c.1227C>T, XM_011540419.3:c.1227C>T, XM_011540419.2:c.1227C>T, XM_011540419.1:c.1227C>T, XM_024448267.2:c.1227C>T, XM_024448267.1:c.1227C>T, XM_017016986.2:c.1227C>T, XM_017016986.1:c.1227C>T, XM_024448265.2:c.1227C>T, XM_024448265.1:c.1227C>T, XM_024448269.2:c.1227C>T, XM_024448269.1:c.1227C>T, XM_017016989.2:c.1227C>T, XM_017016989.1:c.1227C>T, XM_047426073.1:c.1227C>T, XM_047426045.1:c.1227C>T, XM_047426058.1:c.1227C>T, XM_047426056.1:c.1227C>T, XM_047426054.1:c.1227C>T, XM_047426055.1:c.1227C>T, XM_047426046.1:c.1227C>T, XM_047426066.1:c.1227C>T, XM_047426061.1:c.1227C>T, XM_047426064.1:c.1227C>T, XM_047426044.1:c.1227C>T, XM_047426059.1:c.1227C>T, XM_047426062.1:c.1227C>T, XM_047426052.1:c.1227C>T, XM_047426063.1:c.1227C>T, XM_047426049.1:c.1227C>T, XM_047426070.1:c.1227C>T, XM_047426048.1:c.1227C>T, XM_047426051.1:c.1227C>T, XM_047426060.1:c.1227C>T, XM_047426047.1:c.1227C>T, XM_047426050.1:c.1227C>T, XM_047426068.1:c.1227C>T, XM_047426069.1:c.1227C>T, XM_047426065.1:c.1227C>T, XM_047426057.1:c.1227C>T, XM_047426067.1:c.1227C>T, XM_047426053.1:c.1227C>T, XM_047426072.1:c.1227C>T, XM_047426071.1:c.1227C>T

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