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Items: 1 to 20 of 405

1.

rs1490619319 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    19:54821798 (GRCh38)
    19:55333253 (GRCh37)
    Canonical SPDI:
    NC_000019.10:54821797:T:C
    Gene:
    KIR3DL1 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.00008/1 (ALFA)
    C=0.00445/13 (KOREAN)
    HGVS:
    NC_000019.10:g.54821798T>C, NW_004166865.1:g.796166T>C, NG_021414.2:g.10361T>C, NM_013289.3:c.889T>C, NM_013289.2:c.889T>C, NM_001322168.1:c.889T>C, NW_016107314.1:g.109788T>C, NW_016107301.1:g.123441T>C, NT_187693.1:g.804367T>C, NC_000019.9:g.55333253T>C, NT_187677.1:g.99164T>C, NT_187673.1:g.47280A>G, NW_016107313.1:g.123403T>C, NW_016107306.1:g.123251T>C, NW_016107305.1:g.123427T>C, NW_003571060.1:g.726167T>C, NT_187683.1:g.96009T>C, NT_187676.1:g.97744T>C, NT_187674.1:g.108673T>C, NT_187671.1:g.100744T>C, NT_187669.1:g.47266A>G, NT_187645.1:g.47281A>G, NT_187643.1:g.47266A>G, NT_187642.1:g.45704A>G, NT_187639.1:g.47575A>G, NW_016107309.1:g.123435T>C, NW_016107307.1:g.123397T>C, NW_016107302.1:g.123435T>C, NT_187686.1:g.47612A>G, NT_187685.1:g.46758A>G, NT_187668.1:g.37173A>G, NT_187640.1:g.36403A>G, NT_187638.1:g.47212A>G, NT_187637.1:g.47011A>G, NW_016107300.1:g.123452T>C, NT_187687.1:g.47087A>G, NT_187684.1:g.47067A>G, NW_003571056.2:g.759359T>C, NW_003571056.1:g.759358T>C, NT_113949.2:g.67183A>G, NT_187675.1:g.165211T>C, NT_187641.1:g.86215A>G, NT_187636.1:g.80540A>G, NT_187670.1:g.74327A>G, NT_187644.1:g.74254A>G, NT_113949.1:g.75807T>C, NM_001083539.2:c.889T>C, NM_001083539.1:c.889T>C, NM_001282170.1:c.604T>C, NM_001282171.1:c.568T>C, XM_017030274.1:c.889T>C, NM_014514.1:c.889T>C, NM_001368254.1:c.889T>C, NP_037421.2:p.Phe297Leu

    2.

    rs1484651663 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      19:54819912 (GRCh38)
      19:55331367 (GRCh37)
      Canonical SPDI:
      NC_000019.10:54819911:G:A
      Gene:
      KIR3DL1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0./0 (GnomAD)
      A=0.000008/2 (GnomAD_exomes)
      HGVS:
      NC_000019.10:g.54819912G>A, NW_004166865.1:g.794280G>A, NG_021414.2:g.8475G>A, NM_013289.3:c.555G>A, NM_013289.2:c.555G>A, NM_001322168.1:c.555G>A, NW_016107314.1:g.107902G>A, NW_016107301.1:g.121555G>A, NT_187693.1:g.802481G>A, NC_000019.9:g.55331367G>A, NT_187677.1:g.97278G>A, NT_187673.1:g.49166C>T, NW_016107313.1:g.121517G>A, NW_016107306.1:g.121365G>A, NW_016107305.1:g.121541G>A, NW_003571060.1:g.724281G>A, NT_187683.1:g.94123G>A, NT_187676.1:g.95858G>A, NT_187674.1:g.106787G>A, NT_187671.1:g.98858G>A, NT_187669.1:g.49152C>T, NT_187645.1:g.49167C>T, NT_187643.1:g.49152C>T, NT_187642.1:g.47590C>T, NT_187639.1:g.49461C>T, NW_016107309.1:g.121549G>A, NW_016107307.1:g.121511G>A, NW_016107302.1:g.121549G>A, NT_187686.1:g.49498C>T, NT_187685.1:g.48644C>T, NT_187668.1:g.39059C>T, NT_187640.1:g.38289C>T, NT_187638.1:g.49098C>T, NT_187637.1:g.48897C>T, NW_016107300.1:g.121566G>A, NT_187687.1:g.48973C>T, NT_187684.1:g.48953C>T, NW_003571056.2:g.757498G>A, NW_003571056.1:g.757497G>A, NT_113949.2:g.69097C>T, NT_187675.1:g.163297G>A, NT_187641.1:g.88129C>T, NT_187636.1:g.82454C>T, NT_187670.1:g.76241C>T, NT_187644.1:g.76168C>T, NT_113949.1:g.73893G>A, NT_187672.1:g.121919G>A, NM_001083539.2:c.555G>A, NM_001083539.1:c.555G>A, NM_014514.1:c.555G>A, XM_017030274.1:c.555G>A, NM_001282171.1:c.234G>A, NM_001282170.1:c.270G>A, NM_001368254.1:c.555G>A, NP_037421.2:p.Met185Ile

      3.

      rs1484639709 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        19:54819953 (GRCh38)
        19:55331408 (GRCh37)
        Canonical SPDI:
        NC_000019.10:54819952:T:C
        Gene:
        KIR3DL1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000011/3 (TOPMED)
        C=0.000029/4 (GnomAD)
        HGVS:
        NC_000019.10:g.54819953T>C, NW_004166865.1:g.794321T>C, NG_021414.2:g.8516T>C, NM_013289.3:c.596T>C, NM_013289.2:c.596T>C, NM_001322168.1:c.596T>C, NW_016107314.1:g.107943T>C, NW_016107301.1:g.121596T>C, NT_187693.1:g.802522T>C, NC_000019.9:g.55331408T>C, NT_187677.1:g.97319T>C, NT_187673.1:g.49125A>G, NW_016107313.1:g.121558T>C, NW_016107306.1:g.121406T>C, NW_016107305.1:g.121582T>C, NW_003571060.1:g.724322T>C, NT_187683.1:g.94164T>C, NT_187676.1:g.95899T>C, NT_187674.1:g.106828T>C, NT_187671.1:g.98899T>C, NT_187669.1:g.49111A>G, NT_187645.1:g.49126A>G, NT_187643.1:g.49111A>G, NT_187642.1:g.47549A>G, NT_187639.1:g.49420A>G, NW_016107309.1:g.121590T>C, NW_016107307.1:g.121552T>C, NW_016107302.1:g.121590T>C, NT_187686.1:g.49457A>G, NT_187685.1:g.48603A>G, NT_187668.1:g.39018A>G, NT_187640.1:g.38248A>G, NT_187638.1:g.49057A>G, NT_187637.1:g.48856A>G, NW_016107300.1:g.121607T>C, NT_187687.1:g.48932A>G, NT_187684.1:g.48912A>G, NW_003571056.2:g.757539T>C, NW_003571056.1:g.757538T>C, NT_113949.2:g.69056A>G, NT_187675.1:g.163338T>C, NT_187641.1:g.88088A>G, NT_187636.1:g.82413A>G, NT_187670.1:g.76200A>G, NT_187644.1:g.76127A>G, NT_113949.1:g.73934T>C, NT_187672.1:g.121960T>C, NM_001083539.2:c.596T>C, NM_001083539.1:c.596T>C, NM_014514.1:c.596T>C, XM_017030274.1:c.596T>C, NM_001282171.1:c.275T>C, NM_001282170.1:c.311T>C, NM_001368254.1:c.596T>C, NP_037421.2:p.Val199Ala

        4.

        rs1482809302 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,C [Show Flanks]
          Chromosome:
          19:54829421 (GRCh38)
          19:55340876 (GRCh37)
          Canonical SPDI:
          NC_000019.10:54829420:T:A,NC_000019.10:54829420:T:C
          Gene:
          KIR3DL1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000019.10:g.54829421T>A, NC_000019.10:g.54829421T>C, NW_004166865.1:g.803789T>A, NW_004166865.1:g.803789T>C, NG_021414.2:g.17984T>A, NG_021414.2:g.17984T>C, NM_013289.3:c.1061T>A, NM_013289.3:c.1061T>C, NM_013289.2:c.1061T>A, NM_013289.2:c.1061T>C, NM_001322168.1:c.1061T>A, NM_001322168.1:c.1061T>C, NW_016107314.1:g.117411T>A, NW_016107314.1:g.117411T>C, NW_016107301.1:g.131064T>A, NW_016107301.1:g.131064T>C, NT_187693.1:g.811990T>A, NT_187693.1:g.811990T>C, NC_000019.9:g.55340876T>A, NC_000019.9:g.55340876T>C, NT_187677.1:g.106787T>A, NT_187677.1:g.106787T>C, NT_187673.1:g.39657A>T, NT_187673.1:g.39657A>G, NW_016107313.1:g.131026T>A, NW_016107313.1:g.131026T>C, NW_016107306.1:g.130874T>A, NW_016107306.1:g.130874T>C, NW_016107305.1:g.131050T>A, NW_016107305.1:g.131050T>C, NW_003571060.1:g.733790T>A, NW_003571060.1:g.733790T>C, NT_187683.1:g.103633T>A, NT_187683.1:g.103633T>C, NT_187676.1:g.105367T>A, NT_187676.1:g.105367T>C, NT_187674.1:g.116296T>A, NT_187674.1:g.116296T>C, NT_187671.1:g.108367T>A, NT_187671.1:g.108367T>C, NT_187669.1:g.39643A>T, NT_187669.1:g.39643A>G, NT_187645.1:g.39658A>T, NT_187645.1:g.39658A>G, NT_187643.1:g.39643A>T, NT_187643.1:g.39643A>G, NT_187642.1:g.38081A>T, NT_187642.1:g.38081A>G, NT_187639.1:g.39952A>T, NT_187639.1:g.39952A>G, NW_016107309.1:g.131059T>A, NW_016107309.1:g.131059T>C, NW_016107307.1:g.131021T>A, NW_016107307.1:g.131021T>C, NW_016107302.1:g.131059T>A, NW_016107302.1:g.131059T>C, NT_187686.1:g.39988A>T, NT_187686.1:g.39988A>G, NT_187685.1:g.39135A>T, NT_187685.1:g.39135A>G, NT_187668.1:g.29549A>T, NT_187668.1:g.29549A>G, NT_187640.1:g.28779A>T, NT_187640.1:g.28779A>G, NT_187638.1:g.39588A>T, NT_187638.1:g.39588A>G, NT_187637.1:g.39387A>T, NT_187637.1:g.39387A>G, NW_016107300.1:g.131077T>A, NW_016107300.1:g.131077T>C, NT_187687.1:g.39463A>T, NT_187687.1:g.39463A>G, NT_187684.1:g.39443A>T, NT_187684.1:g.39443A>G, NW_003571055.2:g.447688T>A, NW_003571055.2:g.447688T>C, NW_003571055.1:g.447687T>A, NW_003571055.1:g.447687T>C, NT_113949.2:g.59561A>T, NT_113949.2:g.59561A>G, NT_187675.1:g.172833T>A, NT_187675.1:g.172833T>C, NT_187641.1:g.78593A>T, NT_187641.1:g.78593A>G, NT_187636.1:g.72918A>T, NT_187636.1:g.72918A>G, NT_187670.1:g.66705A>T, NT_187670.1:g.66705A>G, NT_187644.1:g.66632A>T, NT_187644.1:g.66632A>G, NT_113949.1:g.83429T>A, NT_113949.1:g.83429T>C, NM_001083539.2:c.1061T>A, NM_001083539.2:c.1061T>C, NM_001083539.1:c.1061T>A, NM_001083539.1:c.1061T>C, NM_014514.1:c.1061T>A, NM_014514.1:c.1061T>C, NM_001282171.1:c.740T>A, NM_001282171.1:c.740T>C, NM_001282170.1:c.776T>A, NM_001282170.1:c.776T>C, NP_037421.2:p.Leu354His, NP_037421.2:p.Leu354Pro

          5.

          rs1482323640 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            19:54821785 (GRCh38)
            19:55333240 (GRCh37)
            Canonical SPDI:
            NC_000019.10:54821784:A:C
            Gene:
            KIR3DL1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000014/1 (GnomAD_exomes)
            C=0.000014/2 (GnomAD)
            HGVS:
            NC_000019.10:g.54821785A>C, NW_004166865.1:g.796153A>C, NG_021414.2:g.10348A>C, NM_013289.3:c.876A>C, NM_013289.2:c.876A>C, NM_001322168.1:c.876A>C, NW_016107314.1:g.109775A>C, NW_016107301.1:g.123428A>C, NT_187693.1:g.804354A>C, NC_000019.9:g.55333240A>C, NT_187677.1:g.99151A>C, NT_187673.1:g.47293T>G, NW_016107313.1:g.123390A>C, NW_016107306.1:g.123238A>C, NW_016107305.1:g.123414A>C, NW_003571060.1:g.726154A>C, NT_187683.1:g.95996A>C, NT_187676.1:g.97731A>C, NT_187674.1:g.108660A>C, NT_187671.1:g.100731A>C, NT_187669.1:g.47279T>G, NT_187645.1:g.47294T>G, NT_187643.1:g.47279T>G, NT_187642.1:g.45717T>G, NT_187639.1:g.47588T>G, NW_016107309.1:g.123422A>C, NW_016107307.1:g.123384A>C, NW_016107302.1:g.123422A>C, NT_187686.1:g.47625T>G, NT_187685.1:g.46771T>G, NT_187668.1:g.37186T>G, NT_187640.1:g.36416T>G, NT_187638.1:g.47225T>G, NT_187637.1:g.47024T>G, NW_016107300.1:g.123439A>C, NT_187687.1:g.47100T>G, NT_187684.1:g.47080T>G, NW_003571056.2:g.759346A>C, NW_003571056.1:g.759345A>C, NT_113949.2:g.67196T>G, NT_187675.1:g.165198A>C, NT_187641.1:g.86228T>G, NT_187636.1:g.80553T>G, NT_187670.1:g.74340T>G, NT_187644.1:g.74267T>G, NT_113949.1:g.75794A>C, NM_001083539.2:c.876A>C, NM_001083539.1:c.876A>C, NM_001282170.1:c.591A>C, NM_001282171.1:c.555A>C, XM_017030274.1:c.876A>C, NM_014514.1:c.876A>C, NM_001368254.1:c.876A>C, NP_037421.2:p.Arg292Ser

            6.

            rs1480922472 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              19:54821853 (GRCh38)
              19:55333308 (GRCh37)
              Canonical SPDI:
              NC_000019.10:54821852:T:C
              Gene:
              KIR3DL1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              HGVS:
              NC_000019.10:g.54821853T>C, NW_004166865.1:g.796221T>C, NG_021414.2:g.10416T>C, NM_013289.3:c.944T>C, NM_013289.2:c.944T>C, NM_001322168.1:c.944T>C, NW_016107314.1:g.109843T>C, NW_016107301.1:g.123496T>C, NT_187693.1:g.804422T>C, NC_000019.9:g.55333308T>C, NT_187677.1:g.99219T>C, NT_187673.1:g.47225A>G, NW_016107313.1:g.123458T>C, NW_016107306.1:g.123306T>C, NW_016107305.1:g.123482T>C, NW_003571060.1:g.726222T>C, NT_187683.1:g.96064T>C, NT_187676.1:g.97799T>C, NT_187674.1:g.108728T>C, NT_187671.1:g.100799T>C, NT_187669.1:g.47211A>G, NT_187645.1:g.47226A>G, NT_187643.1:g.47211A>G, NT_187642.1:g.45649A>G, NT_187639.1:g.47520A>G, NW_016107309.1:g.123490T>C, NW_016107307.1:g.123452T>C, NW_016107302.1:g.123490T>C, NT_187686.1:g.47557A>G, NT_187685.1:g.46703A>G, NT_187668.1:g.37118A>G, NT_187640.1:g.36348A>G, NT_187638.1:g.47157A>G, NT_187637.1:g.46956A>G, NW_016107300.1:g.123507T>C, NT_187687.1:g.47032A>G, NT_187684.1:g.47012A>G, NW_003571056.2:g.759414T>C, NW_003571056.1:g.759413T>C, NT_113949.2:g.67128A>G, NT_187675.1:g.165266T>C, NT_187641.1:g.86160A>G, NT_187636.1:g.80485A>G, NT_187670.1:g.74272A>G, NT_187644.1:g.74199A>G, NT_113949.1:g.75862T>C, NM_001083539.2:c.944T>C, NM_001083539.1:c.944T>C, NM_001282170.1:c.659T>C, NM_001282171.1:c.623T>C, XM_017030274.1:c.944T>C, NM_014514.1:c.944T>C, NM_001368254.1:c.944T>C, NP_037421.2:p.Val315Ala

              7.

              rs1479898474 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                19:54819804 (GRCh38)
                19:55331259 (GRCh37)
                Canonical SPDI:
                NC_000019.10:54819803:G:C
                Gene:
                KIR3DL1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                C=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000019.10:g.54819804G>C, NW_004166865.1:g.794172G>C, NG_021414.2:g.8367G>C, NM_013289.3:c.447G>C, NM_013289.2:c.447G>C, NM_001322168.1:c.447G>C, NW_016107314.1:g.107794G>C, NW_016107301.1:g.121447G>C, NT_187693.1:g.802373G>C, NC_000019.9:g.55331259G>C, NT_187677.1:g.97170G>C, NT_187673.1:g.49274C>G, NW_016107313.1:g.121409G>C, NW_016107306.1:g.121257G>C, NW_016107305.1:g.121433G>C, NW_003571060.1:g.724173G>C, NT_187683.1:g.94015G>C, NT_187676.1:g.95750G>C, NT_187674.1:g.106679G>C, NT_187671.1:g.98750G>C, NT_187669.1:g.49260C>G, NT_187645.1:g.49275C>G, NT_187643.1:g.49260C>G, NT_187642.1:g.47698C>G, NT_187639.1:g.49569C>G, NW_016107309.1:g.121441G>C, NW_016107307.1:g.121403G>C, NW_016107302.1:g.121441G>C, NT_187686.1:g.49606C>G, NT_187685.1:g.48752C>G, NT_187668.1:g.39167C>G, NT_187640.1:g.38397C>G, NT_187638.1:g.49206C>G, NT_187637.1:g.49005C>G, NW_016107300.1:g.121458G>C, NT_187687.1:g.49081C>G, NT_187684.1:g.49061C>G, NW_003571056.2:g.757390G>C, NW_003571056.1:g.757389G>C, NT_113949.2:g.69205C>G, NT_187675.1:g.163189G>C, NT_187641.1:g.88237C>G, NT_187636.1:g.82562C>G, NT_187670.1:g.76349C>G, NT_187644.1:g.76276C>G, NT_113949.1:g.73785G>C, NT_187672.1:g.121811G>C, NM_001083539.2:c.447G>C, NM_001083539.1:c.447G>C, NM_014514.1:c.447G>C, XM_017030274.1:c.447G>C, NM_001282171.1:c.126G>C, NM_001282170.1:c.162G>C, NM_001368254.1:c.447G>C, NP_037421.2:p.Met149Ile

                8.

                rs1475709549 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  19:54825042 (GRCh38)
                  19:55336497 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:54825041:A:T
                  Gene:
                  KIR3DL1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000019.10:g.54825042A>T, NW_004166865.1:g.799410A>T, NG_021414.2:g.13605A>T, NM_013289.3:c.964A>T, NM_013289.2:c.964A>T, NM_001322168.1:c.964A>T, NW_016107314.1:g.113032A>T, NW_016107301.1:g.126685A>T, NT_187693.1:g.807611A>T, NC_000019.9:g.55336497A>T, NT_187677.1:g.102408A>T, NT_187673.1:g.44036T>A, NW_016107313.1:g.126647A>T, NW_016107306.1:g.126495A>T, NW_016107305.1:g.126671A>T, NW_003571060.1:g.729411A>T, NT_187683.1:g.99254A>T, NT_187676.1:g.100988A>T, NT_187674.1:g.111917A>T, NT_187671.1:g.103988A>T, NT_187669.1:g.44022T>A, NT_187645.1:g.44037T>A, NT_187643.1:g.44022T>A, NT_187642.1:g.42460T>A, NT_187639.1:g.44331T>A, NW_016107309.1:g.126679A>T, NW_016107307.1:g.126641A>T, NW_016107302.1:g.126679A>T, NT_187686.1:g.44368T>A, NT_187685.1:g.43514T>A, NT_187668.1:g.33929T>A, NT_187640.1:g.33159T>A, NT_187638.1:g.43968T>A, NT_187637.1:g.43767T>A, NW_016107300.1:g.126698A>T, NT_187687.1:g.43842T>A, NT_187684.1:g.43822T>A, NW_003571055.2:g.443311A>T, NW_003571055.1:g.443310A>T, NT_113949.2:g.63938T>A, NT_187675.1:g.168456A>T, NT_187641.1:g.82970T>A, NT_187636.1:g.77295T>A, NT_187670.1:g.71082T>A, NT_187644.1:g.71009T>A, NT_113949.1:g.79052A>T, NM_001083539.2:c.964A>T, NM_001083539.1:c.964A>T, NM_014514.1:c.964A>T, NM_001282171.1:c.643A>T, NM_001282170.1:c.679A>T, NM_001368254.1:c.964A>T, NP_037421.2:p.Ser322Cys

                  9.

                  rs1475196589 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    19:54821793 (GRCh38)
                    19:55333248 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:54821792:G:A
                    Gene:
                    KIR3DL1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000019.10:g.54821793G>A, NW_004166865.1:g.796161G>A, NG_021414.2:g.10356G>A, NM_013289.3:c.884G>A, NM_013289.2:c.884G>A, NM_001322168.1:c.884G>A, NW_016107314.1:g.109783G>A, NW_016107301.1:g.123436G>A, NT_187693.1:g.804362G>A, NC_000019.9:g.55333248G>A, NT_187677.1:g.99159G>A, NT_187673.1:g.47285C>T, NW_016107313.1:g.123398G>A, NW_016107306.1:g.123246G>A, NW_016107305.1:g.123422G>A, NW_003571060.1:g.726162G>A, NT_187683.1:g.96004G>A, NT_187676.1:g.97739G>A, NT_187674.1:g.108668G>A, NT_187671.1:g.100739G>A, NT_187669.1:g.47271C>T, NT_187645.1:g.47286C>T, NT_187643.1:g.47271C>T, NT_187642.1:g.45709C>T, NT_187639.1:g.47580C>T, NW_016107309.1:g.123430G>A, NW_016107307.1:g.123392G>A, NW_016107302.1:g.123430G>A, NT_187686.1:g.47617C>T, NT_187685.1:g.46763C>T, NT_187668.1:g.37178C>T, NT_187640.1:g.36408C>T, NT_187638.1:g.47217C>T, NT_187637.1:g.47016C>T, NW_016107300.1:g.123447G>A, NT_187687.1:g.47092C>T, NT_187684.1:g.47072C>T, NW_003571056.2:g.759354G>A, NW_003571056.1:g.759353G>A, NT_113949.2:g.67188C>T, NT_187675.1:g.165206G>A, NT_187641.1:g.86220C>T, NT_187636.1:g.80545C>T, NT_187670.1:g.74332C>T, NT_187644.1:g.74259C>T, NT_113949.1:g.75802G>A, NM_001083539.2:c.884G>A, NM_001083539.1:c.884G>A, NM_001282170.1:c.599G>A, NM_001282171.1:c.563G>A, XM_017030274.1:c.884G>A, NM_014514.1:c.884G>A, NM_001368254.1:c.884G>A, NP_037421.2:p.Gly295Asp

                    10.

                    rs1474861078 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      19:54819829 (GRCh38)
                      19:55331284 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:54819828:G:A,NC_000019.10:54819828:G:C
                      Gene:
                      KIR3DL1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000019.10:g.54819829G>A, NC_000019.10:g.54819829G>C, NW_004166865.1:g.794197G>A, NW_004166865.1:g.794197G>C, NG_021414.2:g.8392G>A, NG_021414.2:g.8392G>C, NM_013289.3:c.472G>A, NM_013289.3:c.472G>C, NM_013289.2:c.472G>A, NM_013289.2:c.472G>C, NM_001322168.1:c.472G>A, NM_001322168.1:c.472G>C, NW_016107314.1:g.107819G>A, NW_016107314.1:g.107819G>C, NW_016107301.1:g.121472G>A, NW_016107301.1:g.121472G>C, NT_187693.1:g.802398G>A, NT_187693.1:g.802398G>C, NC_000019.9:g.55331284G>A, NC_000019.9:g.55331284G>C, NT_187677.1:g.97195G>A, NT_187677.1:g.97195G>C, NT_187673.1:g.49249C>T, NT_187673.1:g.49249C>G, NW_016107313.1:g.121434G>A, NW_016107313.1:g.121434G>C, NW_016107306.1:g.121282G>A, NW_016107306.1:g.121282G>C, NW_016107305.1:g.121458G>A, NW_016107305.1:g.121458G>C, NW_003571060.1:g.724198G>A, NW_003571060.1:g.724198G>C, NT_187683.1:g.94040G>A, NT_187683.1:g.94040G>C, NT_187676.1:g.95775G>A, NT_187676.1:g.95775G>C, NT_187674.1:g.106704G>A, NT_187674.1:g.106704G>C, NT_187671.1:g.98775G>A, NT_187671.1:g.98775G>C, NT_187669.1:g.49235C>T, NT_187669.1:g.49235C>G, NT_187645.1:g.49250C>T, NT_187645.1:g.49250C>G, NT_187643.1:g.49235C>T, NT_187643.1:g.49235C>G, NT_187642.1:g.47673C>T, NT_187642.1:g.47673C>G, NT_187639.1:g.49544C>T, NT_187639.1:g.49544C>G, NW_016107309.1:g.121466G>A, NW_016107309.1:g.121466G>C, NW_016107307.1:g.121428G>A, NW_016107307.1:g.121428G>C, NW_016107302.1:g.121466G>A, NW_016107302.1:g.121466G>C, NT_187686.1:g.49581C>T, NT_187686.1:g.49581C>G, NT_187685.1:g.48727C>T, NT_187685.1:g.48727C>G, NT_187668.1:g.39142C>T, NT_187668.1:g.39142C>G, NT_187640.1:g.38372C>T, NT_187640.1:g.38372C>G, NT_187638.1:g.49181C>T, NT_187638.1:g.49181C>G, NT_187637.1:g.48980C>T, NT_187637.1:g.48980C>G, NW_016107300.1:g.121483G>A, NW_016107300.1:g.121483G>C, NT_187687.1:g.49056C>T, NT_187687.1:g.49056C>G, NT_187684.1:g.49036C>T, NT_187684.1:g.49036C>G, NW_003571056.2:g.757415G>A, NW_003571056.2:g.757415G>C, NW_003571056.1:g.757414G>A, NW_003571056.1:g.757414G>C, NT_113949.2:g.69180C>T, NT_113949.2:g.69180C>G, NT_187675.1:g.163214G>A, NT_187675.1:g.163214G>C, NT_187641.1:g.88212C>T, NT_187641.1:g.88212C>G, NT_187636.1:g.82537C>T, NT_187636.1:g.82537C>G, NT_187670.1:g.76324C>T, NT_187670.1:g.76324C>G, NT_187644.1:g.76251C>T, NT_187644.1:g.76251C>G, NT_113949.1:g.73810G>A, NT_113949.1:g.73810G>C, NT_187672.1:g.121836G>A, NT_187672.1:g.121836G>C, NM_001083539.2:c.472G>A, NM_001083539.2:c.472G>C, NM_001083539.1:c.472G>A, NM_001083539.1:c.472G>C, NM_014514.1:c.472G>A, NM_014514.1:c.472G>C, XM_017030274.1:c.472G>A, XM_017030274.1:c.472G>C, NM_001282171.1:c.151G>A, NM_001282171.1:c.151G>C, NM_001282170.1:c.187G>A, NM_001282170.1:c.187G>C, NM_001368254.1:c.472G>A, NM_001368254.1:c.472G>C, NP_037421.2:p.Glu158Lys, NP_037421.2:p.Glu158Gln

                      11.

                      rs1472355438 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        19:54829373 (GRCh38)
                        19:55340828 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:54829372:A:T
                        Gene:
                        KIR3DL1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        HGVS:
                        NC_000019.10:g.54829373A>T, NW_004166865.1:g.803741A>T, NG_021414.2:g.17936A>T, NM_013289.3:c.1013A>T, NM_013289.2:c.1013A>T, NM_001322168.1:c.1013A>T, NW_016107314.1:g.117363A>T, NW_016107301.1:g.131016A>T, NT_187693.1:g.811942A>T, NC_000019.9:g.55340828A>T, NT_187677.1:g.106739A>T, NT_187673.1:g.39705T>A, NW_016107313.1:g.130978A>T, NW_016107306.1:g.130826A>T, NW_016107305.1:g.131002A>T, NW_003571060.1:g.733742A>T, NT_187683.1:g.103585A>T, NT_187676.1:g.105319A>T, NT_187674.1:g.116248A>T, NT_187671.1:g.108319A>T, NT_187669.1:g.39691T>A, NT_187645.1:g.39706T>A, NT_187643.1:g.39691T>A, NT_187642.1:g.38129T>A, NT_187639.1:g.40000T>A, NW_016107309.1:g.131011A>T, NW_016107307.1:g.130973A>T, NW_016107302.1:g.131011A>T, NT_187686.1:g.40036T>A, NT_187685.1:g.39183T>A, NT_187668.1:g.29597T>A, NT_187640.1:g.28827T>A, NT_187638.1:g.39636T>A, NT_187637.1:g.39435T>A, NW_016107300.1:g.131029A>T, NT_187687.1:g.39511T>A, NT_187684.1:g.39491T>A, NW_003571055.2:g.447640A>T, NW_003571055.1:g.447639A>T, NT_113949.2:g.59609T>A, NT_187675.1:g.172785A>T, NT_187641.1:g.78641T>A, NT_187636.1:g.72966T>A, NT_187670.1:g.66753T>A, NT_187644.1:g.66680T>A, NT_113949.1:g.83381A>T, NM_001083539.2:c.1013A>T, NM_001083539.1:c.1013A>T, NM_014514.1:c.1013A>T, NM_001282171.1:c.692A>T, NM_001282170.1:c.728A>T, NP_037421.2:p.His338Leu

                        12.

                        rs1471946116 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          19:54829442 (GRCh38)
                          19:55340897 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:54829441:A:G
                          Gene:
                          KIR3DL1 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0./0 (GnomAD)
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000019.10:g.54829442A>G, NW_004166865.1:g.803810A>G, NG_021414.2:g.18005A>G, NM_013289.3:c.1082A>G, NM_013289.2:c.1082A>G, NM_001322168.1:c.1082A>G, NW_016107314.1:g.117432A>G, NW_016107301.1:g.131085A>G, NT_187693.1:g.812011A>G, NC_000019.9:g.55340897A>G, NT_187677.1:g.106808A>G, NT_187673.1:g.39636T>C, NW_016107313.1:g.131047A>G, NW_016107306.1:g.130895A>G, NW_016107305.1:g.131071A>G, NW_003571060.1:g.733811A>G, NT_187683.1:g.103654A>G, NT_187676.1:g.105388A>G, NT_187674.1:g.116317A>G, NT_187671.1:g.108388A>G, NT_187669.1:g.39622T>C, NT_187645.1:g.39637T>C, NT_187643.1:g.39622T>C, NT_187642.1:g.38060T>C, NT_187639.1:g.39931T>C, NW_016107309.1:g.131080A>G, NW_016107307.1:g.131042A>G, NW_016107302.1:g.131080A>G, NT_187686.1:g.39967T>C, NT_187685.1:g.39114T>C, NT_187668.1:g.29528T>C, NT_187640.1:g.28758T>C, NT_187638.1:g.39567T>C, NT_187637.1:g.39366T>C, NW_016107300.1:g.131098A>G, NT_187687.1:g.39442T>C, NT_187684.1:g.39422T>C, NW_003571055.2:g.447709A>G, NW_003571055.1:g.447708A>G, NT_113949.2:g.59540T>C, NT_187675.1:g.172854A>G, NT_187641.1:g.78572T>C, NT_187636.1:g.72897T>C, NT_187670.1:g.66684T>C, NT_187644.1:g.66611T>C, NT_113949.1:g.83450A>G, NM_001083539.2:c.1082A>G, NM_001083539.1:c.1082A>G, NM_014514.1:c.1082A>G, NM_001282171.1:c.761A>G, NM_001282170.1:c.797A>G, NP_037421.2:p.His361Arg

                          13.

                          rs1471729756 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            19:54819972 (GRCh38)
                            19:55331427 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:54819971:G:C
                            Gene:
                            KIR3DL1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000019.10:g.54819972G>C, NW_004166865.1:g.794340G>C, NG_021414.2:g.8535G>C, NM_013289.3:c.615G>C, NM_013289.2:c.615G>C, NM_001322168.1:c.615G>C, NW_016107314.1:g.107962G>C, NW_016107301.1:g.121615G>C, NT_187693.1:g.802541G>C, NC_000019.9:g.55331427G>C, NT_187677.1:g.97338G>C, NT_187673.1:g.49106C>G, NW_016107313.1:g.121577G>C, NW_016107306.1:g.121425G>C, NW_016107305.1:g.121601G>C, NW_003571060.1:g.724341G>C, NT_187683.1:g.94183G>C, NT_187676.1:g.95918G>C, NT_187674.1:g.106847G>C, NT_187671.1:g.98918G>C, NT_187669.1:g.49092C>G, NT_187645.1:g.49107C>G, NT_187643.1:g.49092C>G, NT_187642.1:g.47530C>G, NT_187639.1:g.49401C>G, NW_016107309.1:g.121609G>C, NW_016107307.1:g.121571G>C, NW_016107302.1:g.121609G>C, NT_187686.1:g.49438C>G, NT_187685.1:g.48584C>G, NT_187668.1:g.38999C>G, NT_187640.1:g.38229C>G, NT_187638.1:g.49038C>G, NT_187637.1:g.48837C>G, NW_016107300.1:g.121626G>C, NT_187687.1:g.48913C>G, NT_187684.1:g.48893C>G, NW_003571056.2:g.757558G>C, NW_003571056.1:g.757557G>C, NT_113949.2:g.69037C>G, NT_187675.1:g.163357G>C, NT_187641.1:g.88069C>G, NT_187636.1:g.82394C>G, NT_187670.1:g.76181C>G, NT_187644.1:g.76108C>G, NT_113949.1:g.73953G>C, NT_187672.1:g.121979G>C, NM_001083539.2:c.615G>C, NM_001083539.1:c.615G>C, NM_014514.1:c.615G>C, XM_017030274.1:c.615G>C, NM_001282171.1:c.294G>C, NM_001282170.1:c.330G>C, NM_001368254.1:c.615G>C, NP_037421.2:p.Gln205His

                            14.

                            rs1469244374 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              19:54829954 (GRCh38)
                              19:55341409 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:54829953:G:T
                              Gene:
                              KIR3DL1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000019.10:g.54829954G>T, NW_004166865.1:g.804322G>T, NG_021414.2:g.18517G>T, NM_013289.3:c.1132G>T, NM_013289.2:c.1132G>T, NM_001322168.1:c.1132G>T, NW_016107314.1:g.117944G>T, NW_016107301.1:g.131597G>T, NT_187693.1:g.812523G>T, NC_000019.9:g.55341409G>T, NT_187677.1:g.107320G>T, NT_187673.1:g.39124C>A, NW_016107313.1:g.131559G>T, NW_016107306.1:g.131407G>T, NW_016107305.1:g.131583G>T, NW_003571060.1:g.734323G>T, NT_187683.1:g.104166G>T, NT_187676.1:g.105900G>T, NT_187674.1:g.116829G>T, NT_187671.1:g.108900G>T, NT_187669.1:g.39110C>A, NT_187645.1:g.39125C>A, NT_187643.1:g.39110C>A, NT_187642.1:g.37548C>A, NT_187639.1:g.39419C>A, NW_016107309.1:g.131592G>T, NW_016107307.1:g.131554G>T, NW_016107302.1:g.131592G>T, NT_187686.1:g.39455C>A, NT_187685.1:g.38604C>A, NT_187668.1:g.29016C>A, NT_187640.1:g.28246C>A, NT_187638.1:g.39055C>A, NT_187637.1:g.38854C>A, NW_016107300.1:g.131610G>T, NT_187687.1:g.38930C>A, NT_187684.1:g.38910C>A, NW_003571055.2:g.448222G>T, NW_003571055.1:g.448221G>T, NT_113949.2:g.59027C>A, NT_187675.1:g.173367G>T, NT_187641.1:g.78059C>A, NT_187636.1:g.72384C>A, NT_187670.1:g.66171C>A, NT_187644.1:g.66098C>A, NT_113949.1:g.83963G>T, NM_001083539.2:c.1133G>T, NM_001083539.1:c.1133G>T, NM_014514.1:c.1132G>T, NM_001282171.1:c.812G>T, NM_001282170.1:c.848G>T, NP_037421.2:p.Ala378Ser

                              15.

                              rs1465998465 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C,T [Show Flanks]
                                Chromosome:
                                19:54821609 (GRCh38)
                                19:55333064 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:54821608:G:C,NC_000019.10:54821608:G:T
                                Gene:
                                KIR3DL1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000014/3 (GnomAD_exomes)
                                HGVS:
                                NC_000019.10:g.54821609G>C, NC_000019.10:g.54821609G>T, NW_004166865.1:g.795977G>C, NW_004166865.1:g.795977G>T, NG_021414.2:g.10172G>C, NG_021414.2:g.10172G>T, NM_013289.3:c.700G>C, NM_013289.3:c.700G>T, NM_013289.2:c.700G>C, NM_013289.2:c.700G>T, NM_001322168.1:c.700G>C, NM_001322168.1:c.700G>T, NW_016107314.1:g.109599G>C, NW_016107314.1:g.109599G>T, NW_016107301.1:g.123252G>C, NW_016107301.1:g.123252G>T, NT_187693.1:g.804178G>C, NT_187693.1:g.804178G>T, NC_000019.9:g.55333064G>C, NC_000019.9:g.55333064G>T, NT_187677.1:g.98975G>C, NT_187677.1:g.98975G>T, NT_187673.1:g.47469C>G, NT_187673.1:g.47469C>A, NW_016107313.1:g.123214G>C, NW_016107313.1:g.123214G>T, NW_016107306.1:g.123062G>C, NW_016107306.1:g.123062G>T, NW_016107305.1:g.123238G>C, NW_016107305.1:g.123238G>T, NW_003571060.1:g.725978G>C, NW_003571060.1:g.725978G>T, NT_187683.1:g.95820G>C, NT_187683.1:g.95820G>T, NT_187676.1:g.97555G>C, NT_187676.1:g.97555G>T, NT_187674.1:g.108484G>C, NT_187674.1:g.108484G>T, NT_187671.1:g.100555G>C, NT_187671.1:g.100555G>T, NT_187669.1:g.47455C>G, NT_187669.1:g.47455C>A, NT_187645.1:g.47470C>G, NT_187645.1:g.47470C>A, NT_187643.1:g.47455C>G, NT_187643.1:g.47455C>A, NT_187642.1:g.45893C>G, NT_187642.1:g.45893C>A, NT_187639.1:g.47764C>G, NT_187639.1:g.47764C>A, NW_016107309.1:g.123246G>C, NW_016107309.1:g.123246G>T, NW_016107307.1:g.123208G>C, NW_016107307.1:g.123208G>T, NW_016107302.1:g.123246G>C, NW_016107302.1:g.123246G>T, NT_187686.1:g.47801C>G, NT_187686.1:g.47801C>A, NT_187685.1:g.46947C>G, NT_187685.1:g.46947C>A, NT_187668.1:g.37362C>G, NT_187668.1:g.37362C>A, NT_187640.1:g.36592C>G, NT_187640.1:g.36592C>A, NT_187638.1:g.47401C>G, NT_187638.1:g.47401C>A, NT_187637.1:g.47200C>G, NT_187637.1:g.47200C>A, NW_016107300.1:g.123263G>C, NW_016107300.1:g.123263G>T, NT_187687.1:g.47276C>G, NT_187687.1:g.47276C>A, NT_187684.1:g.47256C>G, NT_187684.1:g.47256C>A, NW_003571056.2:g.759170G>C, NW_003571056.2:g.759170G>T, NW_003571056.1:g.759169G>C, NW_003571056.1:g.759169G>T, NT_113949.2:g.67372C>G, NT_113949.2:g.67372C>A, NT_187675.1:g.165022G>C, NT_187675.1:g.165022G>T, NT_187641.1:g.86404C>G, NT_187641.1:g.86404C>A, NT_187636.1:g.80729C>G, NT_187636.1:g.80729C>A, NT_187670.1:g.74516C>G, NT_187670.1:g.74516C>A, NT_187644.1:g.74443C>G, NT_187644.1:g.74443C>A, NT_113949.1:g.75618G>C, NT_113949.1:g.75618G>T, NM_001083539.2:c.700G>C, NM_001083539.2:c.700G>T, NM_001083539.1:c.700G>C, NM_001083539.1:c.700G>T, NM_001282170.1:c.415G>C, NM_001282170.1:c.415G>T, NM_001282171.1:c.379G>C, NM_001282171.1:c.379G>T, XM_017030274.1:c.700G>C, XM_017030274.1:c.700G>T, NM_014514.1:c.700G>C, NM_014514.1:c.700G>T, NM_001368254.1:c.700G>C, NM_001368254.1:c.700G>T, NP_037421.2:p.Val234Leu, NP_037421.2:p.Val234Phe

                                16.

                                rs1463417250 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,G [Show Flanks]
                                  Chromosome:
                                  19:54825049 (GRCh38)
                                  19:55336504 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:54825048:C:A,NC_000019.10:54825048:C:G
                                  Gene:
                                  KIR3DL1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000019.10:g.54825049C>A, NC_000019.10:g.54825049C>G, NW_004166865.1:g.799417C>A, NW_004166865.1:g.799417C>G, NG_021414.2:g.13612C>A, NG_021414.2:g.13612C>G, NM_013289.3:c.971C>A, NM_013289.3:c.971C>G, NM_013289.2:c.971C>A, NM_013289.2:c.971C>G, NM_001322168.1:c.971C>A, NM_001322168.1:c.971C>G, NW_016107314.1:g.113039C>A, NW_016107314.1:g.113039C>G, NW_016107301.1:g.126692C>A, NW_016107301.1:g.126692C>G, NT_187693.1:g.807618C>A, NT_187693.1:g.807618C>G, NC_000019.9:g.55336504C>A, NC_000019.9:g.55336504C>G, NT_187677.1:g.102415C>A, NT_187677.1:g.102415C>G, NT_187673.1:g.44029G>T, NT_187673.1:g.44029G>C, NW_016107313.1:g.126654C>A, NW_016107313.1:g.126654C>G, NW_016107306.1:g.126502C>A, NW_016107306.1:g.126502C>G, NW_016107305.1:g.126678C>A, NW_016107305.1:g.126678C>G, NW_003571060.1:g.729418C>A, NW_003571060.1:g.729418C>G, NT_187683.1:g.99261C>A, NT_187683.1:g.99261C>G, NT_187676.1:g.100995C>A, NT_187676.1:g.100995C>G, NT_187674.1:g.111924C>A, NT_187674.1:g.111924C>G, NT_187671.1:g.103995C>A, NT_187671.1:g.103995C>G, NT_187669.1:g.44015G>T, NT_187669.1:g.44015G>C, NT_187645.1:g.44030G>T, NT_187645.1:g.44030G>C, NT_187643.1:g.44015G>T, NT_187643.1:g.44015G>C, NT_187642.1:g.42453G>T, NT_187642.1:g.42453G>C, NT_187639.1:g.44324G>T, NT_187639.1:g.44324G>C, NW_016107309.1:g.126686C>A, NW_016107309.1:g.126686C>G, NW_016107307.1:g.126648C>A, NW_016107307.1:g.126648C>G, NW_016107302.1:g.126686C>A, NW_016107302.1:g.126686C>G, NT_187686.1:g.44361G>T, NT_187686.1:g.44361G>C, NT_187685.1:g.43507G>T, NT_187685.1:g.43507G>C, NT_187668.1:g.33922G>T, NT_187668.1:g.33922G>C, NT_187640.1:g.33152G>T, NT_187640.1:g.33152G>C, NT_187638.1:g.43961G>T, NT_187638.1:g.43961G>C, NT_187637.1:g.43760G>T, NT_187637.1:g.43760G>C, NW_016107300.1:g.126705C>A, NW_016107300.1:g.126705C>G, NT_187687.1:g.43835G>T, NT_187687.1:g.43835G>C, NT_187684.1:g.43815G>T, NT_187684.1:g.43815G>C, NW_003571055.2:g.443318C>A, NW_003571055.2:g.443318C>G, NW_003571055.1:g.443317C>A, NW_003571055.1:g.443317C>G, NT_113949.2:g.63931G>T, NT_113949.2:g.63931G>C, NT_187675.1:g.168463C>A, NT_187675.1:g.168463C>G, NT_187641.1:g.82963G>T, NT_187641.1:g.82963G>C, NT_187636.1:g.77288G>T, NT_187636.1:g.77288G>C, NT_187670.1:g.71075G>T, NT_187670.1:g.71075G>C, NT_187644.1:g.71002G>T, NT_187644.1:g.71002G>C, NT_113949.1:g.79059C>A, NT_113949.1:g.79059C>G, NM_001083539.2:c.971C>A, NM_001083539.2:c.971C>G, NM_001083539.1:c.971C>A, NM_001083539.1:c.971C>G, NM_014514.1:c.971C>A, NM_014514.1:c.971C>G, NM_001282171.1:c.650C>A, NM_001282171.1:c.650C>G, NM_001282170.1:c.686C>A, NM_001282170.1:c.686C>G, NM_001368254.1:c.971C>A, NM_001368254.1:c.971C>G, NP_037421.2:p.Pro324His, NP_037421.2:p.Pro324Arg

                                  17.

                                  rs1462310393 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    19:54821794 (GRCh38)
                                    19:55333249 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:54821793:C:T
                                    Gene:
                                    KIR3DL1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000019.10:g.54821794C>T, NW_004166865.1:g.796162C>T, NG_021414.2:g.10357C>T, NM_013289.3:c.885C>T, NM_013289.2:c.885C>T, NM_001322168.1:c.885C>T, NW_016107314.1:g.109784C>T, NW_016107301.1:g.123437C>T, NT_187693.1:g.804363C>T, NC_000019.9:g.55333249C>T, NT_187677.1:g.99160C>T, NT_187673.1:g.47284G>A, NW_016107313.1:g.123399C>T, NW_016107306.1:g.123247C>T, NW_016107305.1:g.123423C>T, NW_003571060.1:g.726163C>T, NT_187683.1:g.96005C>T, NT_187676.1:g.97740C>T, NT_187674.1:g.108669C>T, NT_187671.1:g.100740C>T, NT_187669.1:g.47270G>A, NT_187645.1:g.47285G>A, NT_187643.1:g.47270G>A, NT_187642.1:g.45708G>A, NT_187639.1:g.47579G>A, NW_016107309.1:g.123431C>T, NW_016107307.1:g.123393C>T, NW_016107302.1:g.123431C>T, NT_187686.1:g.47616G>A, NT_187685.1:g.46762G>A, NT_187668.1:g.37177G>A, NT_187640.1:g.36407G>A, NT_187638.1:g.47216G>A, NT_187637.1:g.47015G>A, NW_016107300.1:g.123448C>T, NT_187687.1:g.47091G>A, NT_187684.1:g.47071G>A, NW_003571056.2:g.759355C>T, NW_003571056.1:g.759354C>T, NT_113949.2:g.67187G>A, NT_187675.1:g.165207C>T, NT_187641.1:g.86219G>A, NT_187636.1:g.80544G>A, NT_187670.1:g.74331G>A, NT_187644.1:g.74258G>A, NT_113949.1:g.75803C>T, NM_001083539.2:c.885C>T, NM_001083539.1:c.885C>T, NM_001282170.1:c.600C>T, NM_001282171.1:c.564C>T, XM_017030274.1:c.885C>T, NM_014514.1:c.885C>T, NM_001368254.1:c.885C>T

                                    18.

                                    rs1460614103 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      19:54819776 (GRCh38)
                                      19:55331231 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:54819775:T:C
                                      Gene:
                                      KIR3DL1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000019.10:g.54819776T>C, NW_004166865.1:g.794144T>C, NG_021414.2:g.8339T>C, NM_013289.3:c.419T>C, NM_013289.2:c.419T>C, NM_001322168.1:c.419T>C, NW_016107314.1:g.107766T>C, NW_016107301.1:g.121419T>C, NT_187693.1:g.802345T>C, NC_000019.9:g.55331231T>C, NT_187677.1:g.97142T>C, NT_187673.1:g.49302A>G, NW_016107313.1:g.121381T>C, NW_016107306.1:g.121229T>C, NW_016107305.1:g.121405T>C, NW_003571060.1:g.724145T>C, NT_187683.1:g.93987T>C, NT_187676.1:g.95722T>C, NT_187674.1:g.106651T>C, NT_187671.1:g.98722T>C, NT_187669.1:g.49288A>G, NT_187645.1:g.49303A>G, NT_187643.1:g.49288A>G, NT_187642.1:g.47726A>G, NT_187639.1:g.49597A>G, NW_016107309.1:g.121413T>C, NW_016107307.1:g.121375T>C, NW_016107302.1:g.121413T>C, NT_187686.1:g.49634A>G, NT_187685.1:g.48780A>G, NT_187668.1:g.39195A>G, NT_187640.1:g.38425A>G, NT_187638.1:g.49234A>G, NT_187637.1:g.49033A>G, NW_016107300.1:g.121430T>C, NT_187687.1:g.49109A>G, NT_187684.1:g.49089A>G, NW_003571056.2:g.757362T>C, NW_003571056.1:g.757361T>C, NT_113949.2:g.69233A>G, NT_187675.1:g.163161T>C, NT_187641.1:g.88265A>G, NT_187636.1:g.82590A>G, NT_187670.1:g.76377A>G, NT_187644.1:g.76304A>G, NT_113949.1:g.73757T>C, NT_187672.1:g.121783T>C, NM_001083539.2:c.419T>C, NM_001083539.1:c.419T>C, NM_014514.1:c.419T>C, XM_017030274.1:c.419T>C, NM_001282171.1:c.98T>C, NM_001282170.1:c.134T>C, NM_001368254.1:c.419T>C, NP_037421.2:p.Val140Ala

                                      19.

                                      rs1460092185 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        19:54819982 (GRCh38)
                                        19:55331437 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:54819981:C:G
                                        Gene:
                                        KIR3DL1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        G=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000019.10:g.54819982C>G, NW_004166865.1:g.794350C>G, NG_021414.2:g.8545C>G, NM_013289.3:c.625C>G, NM_013289.2:c.625C>G, NM_001322168.1:c.625C>G, NW_016107314.1:g.107972C>G, NW_016107301.1:g.121625C>G, NT_187693.1:g.802551C>G, NC_000019.9:g.55331437C>G, NT_187677.1:g.97348C>G, NT_187673.1:g.49096G>C, NW_016107313.1:g.121587C>G, NW_016107306.1:g.121435C>G, NW_016107305.1:g.121611C>G, NW_003571060.1:g.724351C>G, NT_187683.1:g.94193C>G, NT_187676.1:g.95928C>G, NT_187674.1:g.106857C>G, NT_187671.1:g.98928C>G, NT_187669.1:g.49082G>C, NT_187645.1:g.49097G>C, NT_187643.1:g.49082G>C, NT_187642.1:g.47520G>C, NT_187639.1:g.49391G>C, NW_016107309.1:g.121619C>G, NW_016107307.1:g.121581C>G, NW_016107302.1:g.121619C>G, NT_187686.1:g.49428G>C, NT_187685.1:g.48574G>C, NT_187668.1:g.38989G>C, NT_187640.1:g.38219G>C, NT_187638.1:g.49028G>C, NT_187637.1:g.48827G>C, NW_016107300.1:g.121636C>G, NT_187687.1:g.48903G>C, NT_187684.1:g.48883G>C, NW_003571056.2:g.757568C>G, NW_003571056.1:g.757567C>G, NT_113949.2:g.69027G>C, NT_187675.1:g.163367C>G, NT_187641.1:g.88059G>C, NT_187636.1:g.82384G>C, NT_187670.1:g.76171G>C, NT_187644.1:g.76098G>C, NT_113949.1:g.73963C>G, NT_187672.1:g.121989C>G, NM_001083539.2:c.625C>G, NM_001083539.1:c.625C>G, NM_014514.1:c.625C>G, XM_017030274.1:c.625C>G, NM_001282171.1:c.304C>G, NM_001282170.1:c.340C>G, NM_001368254.1:c.625C>G, NP_037421.2:p.Pro209Ala

                                        20.

                                        rs1456962122 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          19:54825064 (GRCh38)
                                          19:55336519 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:54825063:C:A
                                          Gene:
                                          KIR3DL1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000142/2 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000019/5 (TOPMED)
                                          HGVS:
                                          NC_000019.10:g.54825064C>A, NW_004166865.1:g.799432C>A, NG_021414.2:g.13627C>A, NM_013289.3:c.986C>A, NM_013289.2:c.986C>A, NM_001322168.1:c.986C>A, NW_016107314.1:g.113054C>A, NW_016107301.1:g.126707C>A, NT_187693.1:g.807633C>A, NC_000019.9:g.55336519C>A, NT_187677.1:g.102430C>A, NT_187673.1:g.44014G>T, NW_016107313.1:g.126669C>A, NW_016107306.1:g.126517C>A, NW_016107305.1:g.126693C>A, NW_003571060.1:g.729433C>A, NT_187683.1:g.99276C>A, NT_187676.1:g.101010C>A, NT_187674.1:g.111939C>A, NT_187671.1:g.104010C>A, NT_187669.1:g.44000G>T, NT_187645.1:g.44015G>T, NT_187643.1:g.44000G>T, NT_187642.1:g.42438G>T, NT_187639.1:g.44309G>T, NW_016107309.1:g.126701C>A, NW_016107307.1:g.126663C>A, NW_016107302.1:g.126701C>A, NT_187686.1:g.44346G>T, NT_187685.1:g.43492G>T, NT_187668.1:g.33907G>T, NT_187640.1:g.33137G>T, NT_187638.1:g.43946G>T, NT_187637.1:g.43745G>T, NW_016107300.1:g.126720C>A, NT_187687.1:g.43820G>T, NT_187684.1:g.43800G>T, NW_003571055.2:g.443333C>A, NW_003571055.1:g.443332C>A, NT_113949.2:g.63916G>T, NT_187675.1:g.168478C>A, NT_187641.1:g.82948G>T, NT_187636.1:g.77273G>T, NT_187670.1:g.71060G>T, NT_187644.1:g.70987G>T, NT_113949.1:g.79074C>A, NM_001083539.2:c.986C>A, NM_001083539.1:c.986C>A, NM_014514.1:c.986C>A, NM_001282171.1:c.665C>A, NM_001282170.1:c.701C>A, NM_001368254.1:c.986C>A, NP_037421.2:p.Pro329Gln

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