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Items: 1 to 20 of 628

1.

rs1490688338 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    19:54830586 (GRCh38)
    19:55342041 (GRCh37)
    Canonical SPDI:
    NC_000019.10:54830585:G:A
    Gene:
    KIR3DL1 (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    HGVS:
    NC_000019.10:g.54830586G>A, NW_004166865.1:g.804954G>A, NG_021414.2:g.19149G>A, NM_013289.3:c.*311G>A, NM_013289.2:c.*298+17G>A, NM_001322168.1:c.*311G>A, NW_016107314.1:g.118576G>A, NW_016107301.1:g.132229G>A, NT_187693.1:g.813155G>A, NC_000019.9:g.55342041G>A, NT_187677.1:g.107952G>A, NT_187673.1:g.38492C>T, NW_016107313.1:g.132191G>A, NW_016107306.1:g.132039G>A, NW_016107305.1:g.132215G>A, NW_003571060.1:g.734955G>A, NT_187683.1:g.104798G>A, NT_187676.1:g.106532G>A, NT_187674.1:g.117461G>A, NT_187671.1:g.109532G>A, NT_187669.1:g.38478C>T, NT_187645.1:g.38493C>T, NT_187643.1:g.38478C>T, NT_187642.1:g.36916C>T, NT_187639.1:g.38787C>T, NW_016107309.1:g.132224G>A, NW_016107307.1:g.132186G>A, NW_016107302.1:g.132224G>A, NT_187686.1:g.38823C>T, NT_187685.1:g.37972C>T, NT_187668.1:g.28384C>T, NT_187640.1:g.27614C>T, NT_187638.1:g.38423C>T, NT_187637.1:g.38222C>T, NW_016107300.1:g.132242G>A, NT_187687.1:g.38298C>T, NT_187684.1:g.38280C>T, NW_003571055.2:g.448836G>A, NW_003571055.1:g.448835G>A, NT_113949.2:g.58413C>T, NT_187675.1:g.173981G>A, NT_187641.1:g.77445C>T, NT_187636.1:g.71770C>T, NT_187670.1:g.65557C>T, NT_187644.1:g.65484C>T, NT_113949.1:g.84577G>A, NM_001083539.2:c.*500G>A, NM_001083539.1:c.*500G>A, NM_014514.1:c.*484G>A, NM_001282171.1:c.*500G>A, NM_001282170.1:c.*500G>A

    2.

    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

      3.

      rs1487298909 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,T [Show Flanks]
        Chromosome:
        19:54830248 (GRCh38)
        19:55341703 (GRCh37)
        Canonical SPDI:
        NC_000019.10:54830247:C:A,NC_000019.10:54830247:C:T
        Gene:
        KIR3DL1 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.00067/8 (ALFA)
        C=0./0 (SGDP_PRJ)
        A=0.14814/429 (KOREAN)
        HGVS:
        NC_000019.10:g.54830248C>A, NC_000019.10:g.54830248C>T, NW_004166865.1:g.804616C>A, NW_004166865.1:g.804616C>T, NG_021414.2:g.18811C>A, NG_021414.2:g.18811C>T, NM_013289.3:c.1308C>A, NM_013289.3:c.1308C>T, NM_013289.2:c.1308C>A, NM_013289.2:c.1308C>T, NM_001322168.1:c.1308C>A, NM_001322168.1:c.1308C>T, NW_016107314.1:g.118238C>A, NW_016107314.1:g.118238C>T, NW_016107301.1:g.131891C>A, NW_016107301.1:g.131891C>T, NT_187693.1:g.812817C>A, NT_187693.1:g.812817C>T, NC_000019.9:g.55341703C>A, NC_000019.9:g.55341703C>T, NT_187677.1:g.107614C>A, NT_187677.1:g.107614C>T, NT_187673.1:g.38830G>T, NT_187673.1:g.38830G>A, NW_016107313.1:g.131853C>A, NW_016107313.1:g.131853C>T, NW_016107306.1:g.131701C>A, NW_016107306.1:g.131701C>T, NW_016107305.1:g.131877C>A, NW_016107305.1:g.131877C>T, NW_003571060.1:g.734617C>A, NW_003571060.1:g.734617C>T, NT_187683.1:g.104460C>A, NT_187683.1:g.104460C>T, NT_187676.1:g.106194C>A, NT_187676.1:g.106194C>T, NT_187674.1:g.117123C>A, NT_187674.1:g.117123C>T, NT_187671.1:g.109194C>A, NT_187671.1:g.109194C>T, NT_187669.1:g.38816G>T, NT_187669.1:g.38816G>A, NT_187645.1:g.38831G>T, NT_187645.1:g.38831G>A, NT_187643.1:g.38816G>T, NT_187643.1:g.38816G>A, NT_187642.1:g.37254G>T, NT_187642.1:g.37254G>A, NT_187639.1:g.39125G>T, NT_187639.1:g.39125G>A, NW_016107309.1:g.131886C>A, NW_016107309.1:g.131886C>T, NW_016107307.1:g.131848C>A, NW_016107307.1:g.131848C>T, NW_016107302.1:g.131886C>A, NW_016107302.1:g.131886C>T, NT_187686.1:g.39161G>T, NT_187686.1:g.39161G>A, NT_187685.1:g.38310G>T, NT_187685.1:g.38310G>A, NT_187668.1:g.28722G>T, NT_187668.1:g.28722G>A, NT_187640.1:g.27952G>T, NT_187640.1:g.27952G>A, NT_187638.1:g.38761G>T, NT_187638.1:g.38761G>A, NT_187637.1:g.38560G>T, NT_187637.1:g.38560G>A, NW_016107300.1:g.131904C>A, NW_016107300.1:g.131904C>T, NT_187687.1:g.38636G>T, NT_187687.1:g.38636G>A, NT_187684.1:g.38616G>T, NT_187684.1:g.38616G>A, NW_003571055.2:g.448494C>A, NW_003571055.2:g.448494C>T, NW_003571055.1:g.448493C>A, NW_003571055.1:g.448493C>T, NT_113949.2:g.58755G>T, NT_113949.2:g.58755G>A, NT_187675.1:g.173639C>A, NT_187675.1:g.173639C>T, NT_187641.1:g.77787G>T, NT_187641.1:g.77787G>A, NT_187636.1:g.72112G>T, NT_187636.1:g.72112G>A, NT_187670.1:g.65899G>T, NT_187670.1:g.65899G>A, NT_187644.1:g.65826G>T, NT_187644.1:g.65826G>A, NT_113949.1:g.84235C>A, NT_113949.1:g.84235C>T, NM_001083539.2:c.*158C>A, NM_001083539.2:c.*158C>T, NM_001083539.1:c.*158C>A, NM_001083539.1:c.*158C>T, NM_014514.1:c.*142C>A, NM_014514.1:c.*142C>T, NM_001282171.1:c.*158C>A, NM_001282171.1:c.*158C>T, NM_001282170.1:c.*158C>A, NM_001282170.1:c.*158C>T

        4.

        rs1485861049 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          19:54830495 (GRCh38)
          19:55341950 (GRCh37)
          Canonical SPDI:
          NC_000019.10:54830494:G:A
          Gene:
          KIR3DL1 (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000008/1 (GnomAD)
          A=0.000008/2 (TOPMED)
          A=0.000063/1 (TOMMO)
          HGVS:
          NC_000019.10:g.54830495G>A, NW_004166865.1:g.804863G>A, NG_021414.2:g.19058G>A, NM_013289.3:c.*220G>A, NM_013289.2:c.*220G>A, NM_001322168.1:c.*220G>A, NW_016107314.1:g.118485G>A, NW_016107301.1:g.132138G>A, NT_187693.1:g.813064G>A, NC_000019.9:g.55341950G>A, NT_187677.1:g.107861G>A, NT_187673.1:g.38583C>T, NW_016107313.1:g.132100G>A, NW_016107306.1:g.131948G>A, NW_016107305.1:g.132124G>A, NW_003571060.1:g.734864G>A, NT_187683.1:g.104707G>A, NT_187676.1:g.106441G>A, NT_187674.1:g.117370G>A, NT_187671.1:g.109441G>A, NT_187669.1:g.38569C>T, NT_187645.1:g.38584C>T, NT_187643.1:g.38569C>T, NT_187642.1:g.37007C>T, NT_187639.1:g.38878C>T, NW_016107309.1:g.132133G>A, NW_016107307.1:g.132095G>A, NW_016107302.1:g.132133G>A, NT_187686.1:g.38914C>T, NT_187685.1:g.38063C>T, NT_187668.1:g.28475C>T, NT_187640.1:g.27705C>T, NT_187638.1:g.38514C>T, NT_187637.1:g.38313C>T, NW_016107300.1:g.132151G>A, NT_187687.1:g.38389C>T, NT_187684.1:g.38371C>T, NW_003571055.2:g.448745G>A, NW_003571055.1:g.448744G>A, NT_113949.2:g.58504C>T, NT_187675.1:g.173890G>A, NT_187641.1:g.77536C>T, NT_187636.1:g.71861C>T, NT_187670.1:g.65648C>T, NT_187644.1:g.65575C>T, NT_113949.1:g.84486G>A, NM_001083539.2:c.*409G>A, NM_001083539.1:c.*409G>A, NM_014514.1:c.*393G>A, NM_001282171.1:c.*409G>A, NM_001282170.1:c.*409G>A

          5.

          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

            6.

            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

              7.

              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

                8.

                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

                  9.

                  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

                    10.

                    rs1480108387 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C,G [Show Flanks]
                      Chromosome:
                      19:54830367 (GRCh38)
                      19:55341822 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:54830366:A:C,NC_000019.10:54830366:A:G
                      Gene:
                      KIR3DL1 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000019.10:g.54830367A>C, NC_000019.10:g.54830367A>G, NW_004166865.1:g.804735A>C, NW_004166865.1:g.804735A>G, NG_021414.2:g.18930A>C, NG_021414.2:g.18930A>G, NM_013289.3:c.*92A>C, NM_013289.3:c.*92A>G, NM_013289.2:c.*92A>C, NM_013289.2:c.*92A>G, NM_001322168.1:c.*92A>C, NM_001322168.1:c.*92A>G, NW_016107314.1:g.118357A>C, NW_016107314.1:g.118357A>G, NW_016107301.1:g.132010A>C, NW_016107301.1:g.132010A>G, NT_187693.1:g.812936A>C, NT_187693.1:g.812936A>G, NC_000019.9:g.55341822A>C, NC_000019.9:g.55341822A>G, NT_187677.1:g.107733A>C, NT_187677.1:g.107733A>G, NT_187673.1:g.38711T>G, NT_187673.1:g.38711T>C, NW_016107313.1:g.131972A>C, NW_016107313.1:g.131972A>G, NW_016107306.1:g.131820A>C, NW_016107306.1:g.131820A>G, NW_016107305.1:g.131996A>C, NW_016107305.1:g.131996A>G, NW_003571060.1:g.734736A>C, NW_003571060.1:g.734736A>G, NT_187683.1:g.104579A>C, NT_187683.1:g.104579A>G, NT_187676.1:g.106313A>C, NT_187676.1:g.106313A>G, NT_187674.1:g.117242A>C, NT_187674.1:g.117242A>G, NT_187671.1:g.109313A>C, NT_187671.1:g.109313A>G, NT_187669.1:g.38697T>G, NT_187669.1:g.38697T>C, NT_187645.1:g.38712T>G, NT_187645.1:g.38712T>C, NT_187643.1:g.38697T>G, NT_187643.1:g.38697T>C, NT_187642.1:g.37135T>G, NT_187642.1:g.37135T>C, NT_187639.1:g.39006T>G, NT_187639.1:g.39006T>C, NW_016107309.1:g.132005A>C, NW_016107309.1:g.132005A>G, NW_016107307.1:g.131967A>C, NW_016107307.1:g.131967A>G, NW_016107302.1:g.132005A>C, NW_016107302.1:g.132005A>G, NT_187686.1:g.39042T>G, NT_187686.1:g.39042T>C, NT_187685.1:g.38191T>G, NT_187685.1:g.38191T>C, NT_187668.1:g.28603T>G, NT_187668.1:g.28603T>C, NT_187640.1:g.27833T>G, NT_187640.1:g.27833T>C, NT_187638.1:g.38642T>G, NT_187638.1:g.38642T>C, NT_187637.1:g.38441T>G, NT_187637.1:g.38441T>C, NW_016107300.1:g.132023A>C, NW_016107300.1:g.132023A>G, NT_187687.1:g.38517T>G, NT_187687.1:g.38517T>C, NT_187684.1:g.38497T>G, NT_187684.1:g.38497T>C, NW_003571055.2:g.448613A>C, NW_003571055.2:g.448613A>G, NW_003571055.1:g.448612A>C, NW_003571055.1:g.448612A>G, NT_113949.2:g.58636T>G, NT_113949.2:g.58636T>C, NT_187675.1:g.173758A>C, NT_187675.1:g.173758A>G, NT_187641.1:g.77668T>G, NT_187641.1:g.77668T>C, NT_187636.1:g.71993T>G, NT_187636.1:g.71993T>C, NT_187670.1:g.65780T>G, NT_187670.1:g.65780T>C, NT_187644.1:g.65707T>G, NT_187644.1:g.65707T>C, NT_113949.1:g.84354A>C, NT_113949.1:g.84354A>G, NM_001083539.2:c.*277A>C, NM_001083539.2:c.*277A>G, NM_001083539.1:c.*277A>C, NM_001083539.1:c.*277A>G, NM_014514.1:c.*261A>C, NM_014514.1:c.*261A>G, NM_001282171.1:c.*277A>C, NM_001282171.1:c.*277A>G, NM_001282170.1:c.*277A>C, NM_001282170.1:c.*277A>G

                      11.

                      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

                        12.

                        rs1476764464 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          CG>- [Show Flanks]
                          Chromosome:
                          19:54830299 (GRCh38)
                          19:55341754 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:54830298:CG:
                          Gene:
                          KIR3DL1 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0.001602/19 (ALFA)
                          -=0.008901/1079 (GnomAD)
                          HGVS:
                          NC_000019.10:g.54830299_54830300del, NW_004166865.1:g.804667_804668del, NG_021414.2:g.18862_18863del, NM_013289.3:c.*24_*25del, NM_013289.2:c.*24_*25del, NM_001322168.1:c.*24_*25del, NW_016107314.1:g.118289_118290del, NW_016107301.1:g.131942_131943del, NT_187693.1:g.812868_812869del, NC_000019.9:g.55341754_55341755del, NT_187677.1:g.107665_107666del, NT_187673.1:g.38778_38779del, NW_016107313.1:g.131904_131905del, NW_016107306.1:g.131752_131753del, NW_016107305.1:g.131928_131929del, NW_003571060.1:g.734668_734669del, NT_187683.1:g.104511_104512del, NT_187676.1:g.106245_106246del, NT_187674.1:g.117174_117175del, NT_187671.1:g.109245_109246del, NT_187669.1:g.38764_38765del, NT_187645.1:g.38779_38780del, NT_187643.1:g.38764_38765del, NT_187642.1:g.37202_37203del, NT_187639.1:g.39073_39074del, NW_016107309.1:g.131937_131938del, NW_016107307.1:g.131899_131900del, NW_016107302.1:g.131937_131938del, NT_187686.1:g.39110_39111del, NT_187685.1:g.38258T>C, NT_187685.1:g.38259_38260del, NT_187668.1:g.28671_28672del, NT_187640.1:g.27901_27902del, NT_187638.1:g.38710_38711del, NT_187637.1:g.38509_38510del, NW_016107300.1:g.131955_131956del, NT_187687.1:g.38585_38586del, NT_187684.1:g.38565_38566del, NW_003571055.2:g.448545_448546delinsCG, NW_003571055.2:g.448545_448546del, NW_003571055.1:g.448544_448545delinsCG, NW_003571055.1:g.448544_448545del, NT_113949.2:g.58703_58704delinsCG, NT_113949.2:g.58703_58704del, NT_187675.1:g.173690_173691delinsCG, NT_187675.1:g.173690_173691del, NT_187641.1:g.77735_77736delinsCG, NT_187641.1:g.77735_77736del, NT_187636.1:g.72060_72061delinsCG, NT_187636.1:g.72060_72061del, NT_187670.1:g.65847_65848delinsCG, NT_187670.1:g.65847_65848del, NT_187644.1:g.65774_65775delinsCG, NT_187644.1:g.65774_65775del, NT_113949.1:g.84286_84287delinsCG, NT_113949.1:g.84286_84287del, NM_001083539.2:c.*209_*210delinsCG, NM_001083539.2:c.*209_*210del, NM_001083539.1:c.*209_*210delinsCG, NM_001083539.1:c.*209_*210del, NM_014514.1:c.*193_*194delinsCG, NM_014514.1:c.*193_*194del, NM_001282171.1:c.*209_*210delinsCG, NM_001282171.1:c.*209_*210del, NM_001282170.1:c.*209_*210delinsCG, NM_001282170.1:c.*209_*210del

                          13.

                          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

                            14.

                            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

                              15.

                              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

                                16.

                                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

                                  17.

                                  rs1471972451 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    19:54830573 (GRCh38)
                                    19:55342028 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:54830572:G:A
                                    Gene:
                                    KIR3DL1 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/1 (GnomAD)
                                    A=0.000156/1 (1000Genomes)
                                    HGVS:
                                    NC_000019.10:g.54830573G>A, NW_004166865.1:g.804941G>A, NG_021414.2:g.19136G>A, NM_013289.3:c.*298G>A, NM_013289.2:c.*298+4G>A, NM_001322168.1:c.*298G>A, NW_016107314.1:g.118563G>A, NW_016107301.1:g.132216G>A, NT_187693.1:g.813142G>A, NC_000019.9:g.55342028G>A, NT_187677.1:g.107939G>A, NT_187673.1:g.38505C>T, NW_016107313.1:g.132178G>A, NW_016107306.1:g.132026G>A, NW_016107305.1:g.132202G>A, NW_003571060.1:g.734942G>A, NT_187683.1:g.104785G>A, NT_187676.1:g.106519G>A, NT_187674.1:g.117448G>A, NT_187671.1:g.109519G>A, NT_187669.1:g.38491C>T, NT_187645.1:g.38506C>T, NT_187643.1:g.38491C>T, NT_187642.1:g.36929C>T, NT_187639.1:g.38800C>T, NW_016107309.1:g.132211G>A, NW_016107307.1:g.132173G>A, NW_016107302.1:g.132211G>A, NT_187686.1:g.38836C>T, NT_187685.1:g.37985C>T, NT_187668.1:g.28397C>T, NT_187640.1:g.27627C>T, NT_187638.1:g.38436C>T, NT_187637.1:g.38235C>T, NW_016107300.1:g.132229G>A, NT_187687.1:g.38311C>T, NT_187684.1:g.38293C>T, NW_003571055.2:g.448823G>A, NW_003571055.1:g.448822G>A, NT_113949.2:g.58426C>T, NT_187675.1:g.173968G>A, NT_187641.1:g.77458C>T, NT_187636.1:g.71783C>T, NT_187670.1:g.65570C>T, NT_187644.1:g.65497C>T, NT_113949.1:g.84564G>A, NM_001083539.2:c.*487G>A, NM_001083539.1:c.*487G>A, NM_014514.1:c.*471G>A, NM_001282171.1:c.*487G>A, NM_001282170.1:c.*487G>A

                                    18.

                                    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

                                      19.

                                      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

                                        20.

                                        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

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