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Items: 1 to 20 of 168

1.

rs1490261271 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    20:63247768 (GRCh38)
    20:61879120 (GRCh37)
    Canonical SPDI:
    NC_000020.11:63247767:T:C
    Gene:
    NKAIN4 (Varview), LOC124904950 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    HGVS:
    NC_000020.11:g.63247768T>C, NC_000020.10:g.61879120T>C, XM_011528529.4:c.95A>G, XM_011528529.3:c.95A>G, XM_011528529.2:c.95A>G, XM_011528529.1:c.95A>G, XM_011528528.4:c.95A>G, XM_011528528.3:c.95A>G, XM_011528528.2:c.95A>G, XM_011528528.1:c.95A>G, NM_152864.4:c.281A>G, NM_152864.3:c.281A>G, XM_017027637.3:c.95A>G, XM_017027637.2:c.95A>G, XM_017027637.1:c.95A>G, XM_017027636.3:c.95A>G, XM_017027636.2:c.95A>G, XM_017027636.1:c.95A>G, XM_011528527.3:c.281A>G, XM_011528527.2:c.281A>G, XM_011528527.1:c.281A>G, XM_005260192.3:c.281A>G, XM_005260192.2:c.281A>G, XM_005260192.1:c.281A>G, XM_024451824.2:c.95A>G, XM_024451824.1:c.95A>G, XM_047440633.1:c.*1788T>C, NM_001363747.1:c.95A>G, XM_047439872.1:c.95A>G, NM_001363718.1:c.95A>G, XM_047439871.1:c.95A>G, XP_011526831.1:p.Glu32Gly, XP_011526830.1:p.Glu32Gly, NP_690603.3:p.Glu94Gly, XP_016883126.1:p.Glu32Gly, XP_016883125.1:p.Glu32Gly, XP_011526829.1:p.Glu94Gly, XP_005260249.1:p.Glu94Gly, XP_024307592.1:p.Glu32Gly, NP_001350676.1:p.Glu32Gly, XP_047295828.1:p.Glu32Gly, NP_001350647.1:p.Glu32Gly, XP_047295827.1:p.Glu32Gly

    2.

    rs1489006197 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      20:63247741 (GRCh38)
      20:61879093 (GRCh37)
      Canonical SPDI:
      NC_000020.11:63247740:T:C
      Gene:
      NKAIN4 (Varview), LOC124904950 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,3_prime_UTR_variant
      Validated:
      by frequency
      MAF:
      C=0.000009/1 (GnomAD_exomes)
      HGVS:
      NC_000020.11:g.63247741T>C, NC_000020.10:g.61879093T>C, XM_011528529.4:c.122A>G, XM_011528529.3:c.122A>G, XM_011528529.2:c.122A>G, XM_011528529.1:c.122A>G, XM_011528528.4:c.122A>G, XM_011528528.3:c.122A>G, XM_011528528.2:c.122A>G, XM_011528528.1:c.122A>G, NM_152864.4:c.308A>G, NM_152864.3:c.308A>G, XM_017027637.3:c.122A>G, XM_017027637.2:c.122A>G, XM_017027637.1:c.122A>G, XM_017027636.3:c.122A>G, XM_017027636.2:c.122A>G, XM_017027636.1:c.122A>G, XM_011528527.3:c.308A>G, XM_011528527.2:c.308A>G, XM_011528527.1:c.308A>G, XM_005260192.3:c.308A>G, XM_005260192.2:c.308A>G, XM_005260192.1:c.308A>G, XM_024451824.2:c.122A>G, XM_024451824.1:c.122A>G, XM_047440633.1:c.*1761T>C, NM_001363747.1:c.122A>G, XM_047439872.1:c.122A>G, NM_001363718.1:c.122A>G, XM_047439871.1:c.122A>G, XP_011526831.1:p.His41Arg, XP_011526830.1:p.His41Arg, NP_690603.3:p.His103Arg, XP_016883126.1:p.His41Arg, XP_016883125.1:p.His41Arg, XP_011526829.1:p.His103Arg, XP_005260249.1:p.His103Arg, XP_024307592.1:p.His41Arg, NP_001350676.1:p.His41Arg, XP_047295828.1:p.His41Arg, NP_001350647.1:p.His41Arg, XP_047295827.1:p.His41Arg

      3.

      rs1482984117 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        20:63247747 (GRCh38)
        20:61879099 (GRCh37)
        Canonical SPDI:
        NC_000020.11:63247746:G:A
        Gene:
        NKAIN4 (Varview), LOC124904950 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000048/1 (ALFA)
        A=0.000008/2 (TOPMED)
        A=0.000014/2 (GnomAD)
        A=0.00002/2 (GnomAD_exomes)
        HGVS:
        NC_000020.11:g.63247747G>A, NC_000020.10:g.61879099G>A, XM_011528529.4:c.116C>T, XM_011528529.3:c.116C>T, XM_011528529.2:c.116C>T, XM_011528529.1:c.116C>T, XM_011528528.4:c.116C>T, XM_011528528.3:c.116C>T, XM_011528528.2:c.116C>T, XM_011528528.1:c.116C>T, NM_152864.4:c.302C>T, NM_152864.3:c.302C>T, XM_017027637.3:c.116C>T, XM_017027637.2:c.116C>T, XM_017027637.1:c.116C>T, XM_017027636.3:c.116C>T, XM_017027636.2:c.116C>T, XM_017027636.1:c.116C>T, XM_011528527.3:c.302C>T, XM_011528527.2:c.302C>T, XM_011528527.1:c.302C>T, XM_005260192.3:c.302C>T, XM_005260192.2:c.302C>T, XM_005260192.1:c.302C>T, XM_024451824.2:c.116C>T, XM_024451824.1:c.116C>T, XM_047440633.1:c.*1767G>A, NM_001363747.1:c.116C>T, XM_047439872.1:c.116C>T, NM_001363718.1:c.116C>T, XM_047439871.1:c.116C>T, XP_011526831.1:p.Ser39Phe, XP_011526830.1:p.Ser39Phe, NP_690603.3:p.Ser101Phe, XP_016883126.1:p.Ser39Phe, XP_016883125.1:p.Ser39Phe, XP_011526829.1:p.Ser101Phe, XP_005260249.1:p.Ser101Phe, XP_024307592.1:p.Ser39Phe, NP_001350676.1:p.Ser39Phe, XP_047295828.1:p.Ser39Phe, NP_001350647.1:p.Ser39Phe, XP_047295827.1:p.Ser39Phe

        4.

        rs1472303147 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          20:63247697 (GRCh38)
          20:61879049 (GRCh37)
          Canonical SPDI:
          NC_000020.11:63247696:C:A,NC_000020.11:63247696:C:T
          Gene:
          NKAIN4 (Varview), LOC124904950 (Varview)
          Functional Consequence:
          missense_variant,3_prime_UTR_variant,coding_sequence_variant,stop_gained
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD_exomes)
          HGVS:
          NC_000020.11:g.63247697C>A, NC_000020.11:g.63247697C>T, NC_000020.10:g.61879049C>A, NC_000020.10:g.61879049C>T, XM_011528529.4:c.166G>T, XM_011528529.4:c.166G>A, XM_011528529.3:c.166G>T, XM_011528529.3:c.166G>A, XM_011528529.2:c.166G>T, XM_011528529.2:c.166G>A, XM_011528529.1:c.166G>T, XM_011528529.1:c.166G>A, XM_011528528.4:c.166G>T, XM_011528528.4:c.166G>A, XM_011528528.3:c.166G>T, XM_011528528.3:c.166G>A, XM_011528528.2:c.166G>T, XM_011528528.2:c.166G>A, XM_011528528.1:c.166G>T, XM_011528528.1:c.166G>A, NM_152864.4:c.352G>T, NM_152864.4:c.352G>A, NM_152864.3:c.352G>T, NM_152864.3:c.352G>A, XM_017027637.3:c.166G>T, XM_017027637.3:c.166G>A, XM_017027637.2:c.166G>T, XM_017027637.2:c.166G>A, XM_017027637.1:c.166G>T, XM_017027637.1:c.166G>A, XM_017027636.3:c.166G>T, XM_017027636.3:c.166G>A, XM_017027636.2:c.166G>T, XM_017027636.2:c.166G>A, XM_017027636.1:c.166G>T, XM_017027636.1:c.166G>A, XM_011528527.3:c.352G>T, XM_011528527.3:c.352G>A, XM_011528527.2:c.352G>T, XM_011528527.2:c.352G>A, XM_011528527.1:c.352G>T, XM_011528527.1:c.352G>A, XM_005260192.3:c.352G>T, XM_005260192.3:c.352G>A, XM_005260192.2:c.352G>T, XM_005260192.2:c.352G>A, XM_005260192.1:c.352G>T, XM_005260192.1:c.352G>A, XM_024451824.2:c.166G>T, XM_024451824.2:c.166G>A, XM_024451824.1:c.166G>T, XM_024451824.1:c.166G>A, XM_047440633.1:c.*1717C>A, XM_047440633.1:c.*1717C>T, NM_001363747.1:c.166G>T, NM_001363747.1:c.166G>A, XM_047439872.1:c.166G>T, XM_047439872.1:c.166G>A, NM_001363718.1:c.166G>T, NM_001363718.1:c.166G>A, XM_047439871.1:c.166G>T, XM_047439871.1:c.166G>A, XP_011526831.1:p.Glu56Ter, XP_011526831.1:p.Glu56Lys, XP_011526830.1:p.Glu56Ter, XP_011526830.1:p.Glu56Lys, NP_690603.3:p.Glu118Ter, NP_690603.3:p.Glu118Lys, XP_016883126.1:p.Glu56Ter, XP_016883126.1:p.Glu56Lys, XP_016883125.1:p.Glu56Ter, XP_016883125.1:p.Glu56Lys, XP_011526829.1:p.Glu118Ter, XP_011526829.1:p.Glu118Lys, XP_005260249.1:p.Glu118Ter, XP_005260249.1:p.Glu118Lys, XP_024307592.1:p.Glu56Ter, XP_024307592.1:p.Glu56Lys, NP_001350676.1:p.Glu56Ter, NP_001350676.1:p.Glu56Lys, XP_047295828.1:p.Glu56Ter, XP_047295828.1:p.Glu56Lys, NP_001350647.1:p.Glu56Ter, NP_001350647.1:p.Glu56Lys, XP_047295827.1:p.Glu56Ter, XP_047295827.1:p.Glu56Lys

          5.

          rs1466958421 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            20:63247606 (GRCh38)
            20:61878958 (GRCh37)
            Canonical SPDI:
            NC_000020.11:63247605:A:G
            Gene:
            NKAIN4 (Varview), LOC124904950 (Varview)
            Functional Consequence:
            missense_variant,3_prime_UTR_variant,coding_sequence_variant
            HGVS:
            NC_000020.11:g.63247606A>G, NC_000020.10:g.61878958A>G, XM_011528529.4:c.257T>C, XM_011528529.3:c.257T>C, XM_011528529.2:c.257T>C, XM_011528529.1:c.257T>C, XM_011528528.4:c.257T>C, XM_011528528.3:c.257T>C, XM_011528528.2:c.257T>C, XM_011528528.1:c.257T>C, NM_152864.4:c.443T>C, NM_152864.3:c.443T>C, XM_017027637.3:c.257T>C, XM_017027637.2:c.257T>C, XM_017027637.1:c.257T>C, XM_017027636.3:c.257T>C, XM_017027636.2:c.257T>C, XM_017027636.1:c.257T>C, XM_011528527.3:c.443T>C, XM_011528527.2:c.443T>C, XM_011528527.1:c.443T>C, XM_005260192.3:c.443T>C, XM_005260192.2:c.443T>C, XM_005260192.1:c.443T>C, XM_024451824.2:c.257T>C, XM_024451824.1:c.257T>C, XM_047440633.1:c.*1626A>G, NM_001363747.1:c.257T>C, XM_047439872.1:c.257T>C, NM_001363718.1:c.257T>C, XM_047439871.1:c.257T>C, XP_011526831.1:p.Leu86Pro, XP_011526830.1:p.Leu86Pro, NP_690603.3:p.Leu148Pro, XP_016883126.1:p.Leu86Pro, XP_016883125.1:p.Leu86Pro, XP_011526829.1:p.Leu148Pro, XP_005260249.1:p.Leu148Pro, XP_024307592.1:p.Leu86Pro, NP_001350676.1:p.Leu86Pro, XP_047295828.1:p.Leu86Pro, NP_001350647.1:p.Leu86Pro, XP_047295827.1:p.Leu86Pro

            6.

            rs1463191489 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              20:63247594 (GRCh38)
              20:61878946 (GRCh37)
              Canonical SPDI:
              NC_000020.11:63247593:A:G
              Gene:
              NKAIN4 (Varview), LOC124904950 (Varview)
              Functional Consequence:
              missense_variant,3_prime_UTR_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000056/2 (ALFA)
              G=0.000007/1 (GnomAD_exomes)
              G=0.000015/4 (TOPMED)
              G=0.000021/3 (GnomAD)
              HGVS:
              NC_000020.11:g.63247594A>G, NC_000020.10:g.61878946A>G, XM_011528529.4:c.269T>C, XM_011528529.3:c.269T>C, XM_011528529.2:c.269T>C, XM_011528529.1:c.269T>C, XM_011528528.4:c.269T>C, XM_011528528.3:c.269T>C, XM_011528528.2:c.269T>C, XM_011528528.1:c.269T>C, NM_152864.4:c.455T>C, NM_152864.3:c.455T>C, XM_017027637.3:c.269T>C, XM_017027637.2:c.269T>C, XM_017027637.1:c.269T>C, XM_017027636.3:c.269T>C, XM_017027636.2:c.269T>C, XM_017027636.1:c.269T>C, XM_011528527.3:c.455T>C, XM_011528527.2:c.455T>C, XM_011528527.1:c.455T>C, XM_005260192.3:c.455T>C, XM_005260192.2:c.455T>C, XM_005260192.1:c.455T>C, XM_024451824.2:c.269T>C, XM_024451824.1:c.269T>C, XM_047440633.1:c.*1614A>G, NM_001363747.1:c.269T>C, XM_047439872.1:c.269T>C, NM_001363718.1:c.269T>C, XM_047439871.1:c.269T>C, XP_011526831.1:p.Leu90Pro, XP_011526830.1:p.Leu90Pro, NP_690603.3:p.Leu152Pro, XP_016883126.1:p.Leu90Pro, XP_016883125.1:p.Leu90Pro, XP_011526829.1:p.Leu152Pro, XP_005260249.1:p.Leu152Pro, XP_024307592.1:p.Leu90Pro, NP_001350676.1:p.Leu90Pro, XP_047295828.1:p.Leu90Pro, NP_001350647.1:p.Leu90Pro, XP_047295827.1:p.Leu90Pro

              7.

              rs1456827689 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                20:63247617 (GRCh38)
                20:61878969 (GRCh37)
                Canonical SPDI:
                NC_000020.11:63247616:A:G
                Gene:
                NKAIN4 (Varview), LOC124904950 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
                Validated:
                by frequency
                MAF:
                G=0.000007/1 (GnomAD_exomes)
                HGVS:

                8.

                rs1455136352 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  20:63242586 (GRCh38)
                  20:61873938 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:63242585:G:A
                  Gene:
                  NKAIN4 (Varview), LOC124904950 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.0002/1 (ALFA)
                  A=0.0002/1 (Estonian)
                  HGVS:

                  9.

                  rs1450879995 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    20:63242566 (GRCh38)
                    20:61873918 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:63242565:G:A
                    Gene:
                    NKAIN4 (Varview), LOC124904950 (Varview)
                    Functional Consequence:
                    missense_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000026/7 (TOPMED)
                    HGVS:
                    NC_000020.11:g.63242566G>A, NC_000020.10:g.61873918G>A, XM_011528529.4:c.404C>T, XM_011528529.3:c.404C>T, XM_011528529.2:c.404C>T, XM_011528529.1:c.404C>T, XM_011528528.4:c.404C>T, XM_011528528.3:c.404C>T, XM_011528528.2:c.404C>T, XM_011528528.1:c.404C>T, NM_152864.4:c.590C>T, NM_152864.3:c.590C>T, XM_017027637.3:c.404C>T, XM_017027637.2:c.404C>T, XM_017027637.1:c.404C>T, XM_017027636.3:c.404C>T, XM_017027636.2:c.404C>T, XM_017027636.1:c.404C>T, XM_011528527.3:c.590C>T, XM_011528527.2:c.590C>T, XM_011528527.1:c.590C>T, XM_024451824.2:c.404C>T, XM_024451824.1:c.404C>T, NM_001363747.1:c.404C>T, XM_047439872.1:c.404C>T, XM_047439871.1:c.404C>T, XP_011526831.1:p.Ser135Phe, XP_011526830.1:p.Ser135Phe, NP_690603.3:p.Ser197Phe, XP_016883126.1:p.Ser135Phe, XP_016883125.1:p.Ser135Phe, XP_011526829.1:p.Ser197Phe, XP_024307592.1:p.Ser135Phe, NP_001350676.1:p.Ser135Phe, XP_047295828.1:p.Ser135Phe, XP_047295827.1:p.Ser135Phe

                    10.

                    rs1445654094 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      20:63247773 (GRCh38)
                      20:61879125 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:63247772:G:A
                      Gene:
                      NKAIN4 (Varview), LOC124904950 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      HGVS:

                      11.

                      rs1438919798 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        20:63242602 (GRCh38)
                        20:61873954 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:63242601:T:A
                        Gene:
                        NKAIN4 (Varview), LOC124904950 (Varview)
                        Functional Consequence:
                        intron_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
                        HGVS:
                        NC_000020.11:g.63242602T>A, NC_000020.10:g.61873954T>A, XM_011528529.4:c.368A>T, XM_011528529.3:c.368A>T, XM_011528529.2:c.368A>T, XM_011528529.1:c.368A>T, XM_011528528.4:c.368A>T, XM_011528528.3:c.368A>T, XM_011528528.2:c.368A>T, XM_011528528.1:c.368A>T, NM_152864.4:c.554A>T, NM_152864.3:c.554A>T, XM_017027637.3:c.368A>T, XM_017027637.2:c.368A>T, XM_017027637.1:c.368A>T, XM_017027636.3:c.368A>T, XM_017027636.2:c.368A>T, XM_017027636.1:c.368A>T, XM_011528527.3:c.554A>T, XM_011528527.2:c.554A>T, XM_011528527.1:c.554A>T, XM_024451824.2:c.368A>T, XM_024451824.1:c.368A>T, NM_001363747.1:c.368A>T, XM_047439872.1:c.368A>T, XM_047439871.1:c.368A>T, XP_011526831.1:p.Asp123Val, XP_011526830.1:p.Asp123Val, NP_690603.3:p.Asp185Val, XP_016883126.1:p.Asp123Val, XP_016883125.1:p.Asp123Val, XP_011526829.1:p.Asp185Val, XP_024307592.1:p.Asp123Val, NP_001350676.1:p.Asp123Val, XP_047295828.1:p.Asp123Val, XP_047295827.1:p.Asp123Val

                        12.

                        rs1436223897 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          20:63241713 (GRCh38)
                          20:61873065 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:63241712:G:A
                          Gene:
                          NKAIN4 (Varview), LOC124904950 (Varview)
                          Functional Consequence:
                          intron_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000007/1 (GnomAD_exomes)
                          HGVS:

                          13.

                          rs1434162368 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            20:63247681 (GRCh38)
                            20:61879033 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:63247680:C:A
                            Gene:
                            NKAIN4 (Varview), LOC124904950 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,3_prime_UTR_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            HGVS:
                            NC_000020.11:g.63247681C>A, NC_000020.10:g.61879033C>A, XM_011528529.4:c.182G>T, XM_011528529.3:c.182G>T, XM_011528529.2:c.182G>T, XM_011528529.1:c.182G>T, XM_011528528.4:c.182G>T, XM_011528528.3:c.182G>T, XM_011528528.2:c.182G>T, XM_011528528.1:c.182G>T, NM_152864.4:c.368G>T, NM_152864.3:c.368G>T, XM_017027637.3:c.182G>T, XM_017027637.2:c.182G>T, XM_017027637.1:c.182G>T, XM_017027636.3:c.182G>T, XM_017027636.2:c.182G>T, XM_017027636.1:c.182G>T, XM_011528527.3:c.368G>T, XM_011528527.2:c.368G>T, XM_011528527.1:c.368G>T, XM_005260192.3:c.368G>T, XM_005260192.2:c.368G>T, XM_005260192.1:c.368G>T, XM_024451824.2:c.182G>T, XM_024451824.1:c.182G>T, XM_047440633.1:c.*1701C>A, NM_001363747.1:c.182G>T, XM_047439872.1:c.182G>T, NM_001363718.1:c.182G>T, XM_047439871.1:c.182G>T, XP_011526831.1:p.Gly61Val, XP_011526830.1:p.Gly61Val, NP_690603.3:p.Gly123Val, XP_016883126.1:p.Gly61Val, XP_016883125.1:p.Gly61Val, XP_011526829.1:p.Gly123Val, XP_005260249.1:p.Gly123Val, XP_024307592.1:p.Gly61Val, NP_001350676.1:p.Gly61Val, XP_047295828.1:p.Gly61Val, NP_001350647.1:p.Gly61Val, XP_047295827.1:p.Gly61Val

                            14.

                            rs1431623246 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              20:63247763 (GRCh38)
                              20:61879115 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:63247762:G:A
                              Gene:
                              NKAIN4 (Varview), LOC124904950 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              HGVS:

                              15.

                              rs1415649322 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                20:63241729 (GRCh38)
                                20:61873081 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:63241728:C:G,NC_000020.11:63241728:C:T
                                Gene:
                                NKAIN4 (Varview), LOC124904950 (Varview)
                                Functional Consequence:
                                intron_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (TOPMED)
                                G=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000020.11:g.63241729C>G, NC_000020.11:g.63241729C>T, NC_000020.10:g.61873081C>G, NC_000020.10:g.61873081C>T, NG_029552.1:g.10806C>G, NG_029552.1:g.10806C>T, XM_011528529.4:c.455G>C, XM_011528529.4:c.455G>A, XM_011528529.3:c.455G>C, XM_011528529.3:c.455G>A, XM_011528529.2:c.455G>C, XM_011528529.2:c.455G>A, XM_011528529.1:c.455G>C, XM_011528529.1:c.455G>A, XM_011528528.4:c.455G>C, XM_011528528.4:c.455G>A, XM_011528528.3:c.455G>C, XM_011528528.3:c.455G>A, XM_011528528.2:c.455G>C, XM_011528528.2:c.455G>A, XM_011528528.1:c.455G>C, XM_011528528.1:c.455G>A, XM_017027637.3:c.455G>C, XM_017027637.3:c.455G>A, XM_017027637.2:c.455G>C, XM_017027637.2:c.455G>A, XM_017027637.1:c.455G>C, XM_017027637.1:c.455G>A, XM_017027636.3:c.455G>C, XM_017027636.3:c.455G>A, XM_017027636.2:c.455G>C, XM_017027636.2:c.455G>A, XM_017027636.1:c.455G>C, XM_017027636.1:c.455G>A, XM_011528527.3:c.641G>C, XM_011528527.3:c.641G>A, XM_011528527.2:c.641G>C, XM_011528527.2:c.641G>A, XM_011528527.1:c.641G>C, XM_011528527.1:c.641G>A, XM_024451824.2:c.455G>C, XM_024451824.2:c.455G>A, XM_024451824.1:c.455G>C, XM_024451824.1:c.455G>A, XM_047439872.1:c.455G>C, XM_047439872.1:c.455G>A, XP_011526831.1:p.Arg152Thr, XP_011526831.1:p.Arg152Lys, XP_011526830.1:p.Arg152Thr, XP_011526830.1:p.Arg152Lys, XP_016883126.1:p.Arg152Thr, XP_016883126.1:p.Arg152Lys, XP_016883125.1:p.Arg152Thr, XP_016883125.1:p.Arg152Lys, XP_011526829.1:p.Arg214Thr, XP_011526829.1:p.Arg214Lys, XP_024307592.1:p.Arg152Thr, XP_024307592.1:p.Arg152Lys, XP_047295828.1:p.Arg152Thr, XP_047295828.1:p.Arg152Lys

                                16.

                                rs1410478598 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C,G [Show Flanks]
                                  Chromosome:
                                  20:63247689 (GRCh38)
                                  20:61879041 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:63247688:T:C,NC_000020.11:63247688:T:G
                                  Gene:
                                  NKAIN4 (Varview), LOC124904950 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  G=0.000007/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000020.11:g.63247689T>C, NC_000020.11:g.63247689T>G, NC_000020.10:g.61879041T>C, NC_000020.10:g.61879041T>G, XM_011528529.4:c.174A>G, XM_011528529.4:c.174A>C, XM_011528529.3:c.174A>G, XM_011528529.3:c.174A>C, XM_011528529.2:c.174A>G, XM_011528529.2:c.174A>C, XM_011528529.1:c.174A>G, XM_011528529.1:c.174A>C, XM_011528528.4:c.174A>G, XM_011528528.4:c.174A>C, XM_011528528.3:c.174A>G, XM_011528528.3:c.174A>C, XM_011528528.2:c.174A>G, XM_011528528.2:c.174A>C, XM_011528528.1:c.174A>G, XM_011528528.1:c.174A>C, NM_152864.4:c.360A>G, NM_152864.4:c.360A>C, NM_152864.3:c.360A>G, NM_152864.3:c.360A>C, XM_017027637.3:c.174A>G, XM_017027637.3:c.174A>C, XM_017027637.2:c.174A>G, XM_017027637.2:c.174A>C, XM_017027637.1:c.174A>G, XM_017027637.1:c.174A>C, XM_017027636.3:c.174A>G, XM_017027636.3:c.174A>C, XM_017027636.2:c.174A>G, XM_017027636.2:c.174A>C, XM_017027636.1:c.174A>G, XM_017027636.1:c.174A>C, XM_011528527.3:c.360A>G, XM_011528527.3:c.360A>C, XM_011528527.2:c.360A>G, XM_011528527.2:c.360A>C, XM_011528527.1:c.360A>G, XM_011528527.1:c.360A>C, XM_005260192.3:c.360A>G, XM_005260192.3:c.360A>C, XM_005260192.2:c.360A>G, XM_005260192.2:c.360A>C, XM_005260192.1:c.360A>G, XM_005260192.1:c.360A>C, XM_024451824.2:c.174A>G, XM_024451824.2:c.174A>C, XM_024451824.1:c.174A>G, XM_024451824.1:c.174A>C, XM_047440633.1:c.*1709T>C, XM_047440633.1:c.*1709T>G, NM_001363747.1:c.174A>G, NM_001363747.1:c.174A>C, XM_047439872.1:c.174A>G, XM_047439872.1:c.174A>C, NM_001363718.1:c.174A>G, NM_001363718.1:c.174A>C, XM_047439871.1:c.174A>G, XM_047439871.1:c.174A>C

                                  17.

                                  rs1410208328 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,G [Show Flanks]
                                    Chromosome:
                                    20:63247756 (GRCh38)
                                    20:61879108 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:63247755:A:C,NC_000020.11:63247755:A:G
                                    Gene:
                                    NKAIN4 (Varview), LOC124904950 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,3_prime_UTR_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.00006/1 (TOMMO)
                                    HGVS:
                                    NC_000020.11:g.63247756A>C, NC_000020.11:g.63247756A>G, NC_000020.10:g.61879108A>C, NC_000020.10:g.61879108A>G, XM_011528529.4:c.107T>G, XM_011528529.4:c.107T>C, XM_011528529.3:c.107T>G, XM_011528529.3:c.107T>C, XM_011528529.2:c.107T>G, XM_011528529.2:c.107T>C, XM_011528529.1:c.107T>G, XM_011528529.1:c.107T>C, XM_011528528.4:c.107T>G, XM_011528528.4:c.107T>C, XM_011528528.3:c.107T>G, XM_011528528.3:c.107T>C, XM_011528528.2:c.107T>G, XM_011528528.2:c.107T>C, XM_011528528.1:c.107T>G, XM_011528528.1:c.107T>C, NM_152864.4:c.293T>G, NM_152864.4:c.293T>C, NM_152864.3:c.293T>G, NM_152864.3:c.293T>C, XM_017027637.3:c.107T>G, XM_017027637.3:c.107T>C, XM_017027637.2:c.107T>G, XM_017027637.2:c.107T>C, XM_017027637.1:c.107T>G, XM_017027637.1:c.107T>C, XM_017027636.3:c.107T>G, XM_017027636.3:c.107T>C, XM_017027636.2:c.107T>G, XM_017027636.2:c.107T>C, XM_017027636.1:c.107T>G, XM_017027636.1:c.107T>C, XM_011528527.3:c.293T>G, XM_011528527.3:c.293T>C, XM_011528527.2:c.293T>G, XM_011528527.2:c.293T>C, XM_011528527.1:c.293T>G, XM_011528527.1:c.293T>C, XM_005260192.3:c.293T>G, XM_005260192.3:c.293T>C, XM_005260192.2:c.293T>G, XM_005260192.2:c.293T>C, XM_005260192.1:c.293T>G, XM_005260192.1:c.293T>C, XM_024451824.2:c.107T>G, XM_024451824.2:c.107T>C, XM_024451824.1:c.107T>G, XM_024451824.1:c.107T>C, XM_047440633.1:c.*1776A>C, XM_047440633.1:c.*1776A>G, NM_001363747.1:c.107T>G, NM_001363747.1:c.107T>C, XM_047439872.1:c.107T>G, XM_047439872.1:c.107T>C, NM_001363718.1:c.107T>G, NM_001363718.1:c.107T>C, XM_047439871.1:c.107T>G, XM_047439871.1:c.107T>C, XP_011526831.1:p.Phe36Cys, XP_011526831.1:p.Phe36Ser, XP_011526830.1:p.Phe36Cys, XP_011526830.1:p.Phe36Ser, NP_690603.3:p.Phe98Cys, NP_690603.3:p.Phe98Ser, XP_016883126.1:p.Phe36Cys, XP_016883126.1:p.Phe36Ser, XP_016883125.1:p.Phe36Cys, XP_016883125.1:p.Phe36Ser, XP_011526829.1:p.Phe98Cys, XP_011526829.1:p.Phe98Ser, XP_005260249.1:p.Phe98Cys, XP_005260249.1:p.Phe98Ser, XP_024307592.1:p.Phe36Cys, XP_024307592.1:p.Phe36Ser, NP_001350676.1:p.Phe36Cys, NP_001350676.1:p.Phe36Ser, XP_047295828.1:p.Phe36Cys, XP_047295828.1:p.Phe36Ser, NP_001350647.1:p.Phe36Cys, NP_001350647.1:p.Phe36Ser, XP_047295827.1:p.Phe36Cys, XP_047295827.1:p.Phe36Ser

                                    18.

                                    rs1405066828 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      20:63247654 (GRCh38)
                                      20:61879006 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:63247653:A:G,NC_000020.11:63247653:A:T
                                      Gene:
                                      NKAIN4 (Varview), LOC124904950 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,3_prime_UTR_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      NC_000020.11:g.63247654A>G, NC_000020.11:g.63247654A>T, NC_000020.10:g.61879006A>G, NC_000020.10:g.61879006A>T, XM_011528529.4:c.209T>C, XM_011528529.4:c.209T>A, XM_011528529.3:c.209T>C, XM_011528529.3:c.209T>A, XM_011528529.2:c.209T>C, XM_011528529.2:c.209T>A, XM_011528529.1:c.209T>C, XM_011528529.1:c.209T>A, XM_011528528.4:c.209T>C, XM_011528528.4:c.209T>A, XM_011528528.3:c.209T>C, XM_011528528.3:c.209T>A, XM_011528528.2:c.209T>C, XM_011528528.2:c.209T>A, XM_011528528.1:c.209T>C, XM_011528528.1:c.209T>A, NM_152864.4:c.395T>C, NM_152864.4:c.395T>A, NM_152864.3:c.395T>C, NM_152864.3:c.395T>A, XM_017027637.3:c.209T>C, XM_017027637.3:c.209T>A, XM_017027637.2:c.209T>C, XM_017027637.2:c.209T>A, XM_017027637.1:c.209T>C, XM_017027637.1:c.209T>A, XM_017027636.3:c.209T>C, XM_017027636.3:c.209T>A, XM_017027636.2:c.209T>C, XM_017027636.2:c.209T>A, XM_017027636.1:c.209T>C, XM_017027636.1:c.209T>A, XM_011528527.3:c.395T>C, XM_011528527.3:c.395T>A, XM_011528527.2:c.395T>C, XM_011528527.2:c.395T>A, XM_011528527.1:c.395T>C, XM_011528527.1:c.395T>A, XM_005260192.3:c.395T>C, XM_005260192.3:c.395T>A, XM_005260192.2:c.395T>C, XM_005260192.2:c.395T>A, XM_005260192.1:c.395T>C, XM_005260192.1:c.395T>A, XM_024451824.2:c.209T>C, XM_024451824.2:c.209T>A, XM_024451824.1:c.209T>C, XM_024451824.1:c.209T>A, XM_047440633.1:c.*1674A>G, XM_047440633.1:c.*1674A>T, NM_001363747.1:c.209T>C, NM_001363747.1:c.209T>A, XM_047439872.1:c.209T>C, XM_047439872.1:c.209T>A, NM_001363718.1:c.209T>C, NM_001363718.1:c.209T>A, XM_047439871.1:c.209T>C, XM_047439871.1:c.209T>A, XP_011526831.1:p.Leu70Pro, XP_011526831.1:p.Leu70Gln, XP_011526830.1:p.Leu70Pro, XP_011526830.1:p.Leu70Gln, NP_690603.3:p.Leu132Pro, NP_690603.3:p.Leu132Gln, XP_016883126.1:p.Leu70Pro, XP_016883126.1:p.Leu70Gln, XP_016883125.1:p.Leu70Pro, XP_016883125.1:p.Leu70Gln, XP_011526829.1:p.Leu132Pro, XP_011526829.1:p.Leu132Gln, XP_005260249.1:p.Leu132Pro, XP_005260249.1:p.Leu132Gln, XP_024307592.1:p.Leu70Pro, XP_024307592.1:p.Leu70Gln, NP_001350676.1:p.Leu70Pro, NP_001350676.1:p.Leu70Gln, XP_047295828.1:p.Leu70Pro, XP_047295828.1:p.Leu70Gln, NP_001350647.1:p.Leu70Pro, NP_001350647.1:p.Leu70Gln, XP_047295827.1:p.Leu70Pro, XP_047295827.1:p.Leu70Gln

                                      19.

                                      rs1393803625 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CA>- [Show Flanks]
                                        Chromosome:
                                        20:63244068 (GRCh38)
                                        20:61875420 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:63244065:CACA:CA
                                        Gene:
                                        NKAIN4 (Varview), LOC124904950 (Varview)
                                        Functional Consequence:
                                        frameshift_variant,coding_sequence_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        CACA=0./0 (ALFA)
                                        -=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000020.11:g.63244066CA[1], NC_000020.10:g.61875418CA[1], XM_011528529.4:c.303_304del, XM_011528529.3:c.303_304del, XM_011528529.2:c.303_304del, XM_011528529.1:c.303_304del, XM_011528528.4:c.303_304del, XM_011528528.3:c.303_304del, XM_011528528.2:c.303_304del, XM_011528528.1:c.303_304del, NM_152864.4:c.489_490del, NM_152864.3:c.489_490del, XM_017027637.3:c.303_304del, XM_017027637.2:c.303_304del, XM_017027637.1:c.303_304del, XM_017027636.3:c.303_304del, XM_017027636.2:c.303_304del, XM_017027636.1:c.303_304del, XM_011528527.3:c.489_490del, XM_011528527.2:c.489_490del, XM_011528527.1:c.489_490del, XM_005260192.3:c.489_490del, XM_005260192.2:c.489_490del, XM_005260192.1:c.489_490del, XM_024451824.2:c.303_304del, XM_024451824.1:c.303_304del, XM_047440633.1:c.-741CA[1], NM_001363747.1:c.303_304del, XM_047439872.1:c.303_304del, NM_001363718.1:c.303_304del, XM_047439871.1:c.303_304del, XP_011526831.1:p.Cys101fs, XP_011526830.1:p.Cys101fs, NP_690603.3:p.Cys163fs, XP_016883126.1:p.Cys101fs, XP_016883125.1:p.Cys101fs, XP_011526829.1:p.Cys163fs, XP_005260249.1:p.Cys163fs, XP_024307592.1:p.Cys101fs, NP_001350676.1:p.Cys101fs, XP_047295828.1:p.Cys101fs, NP_001350647.1:p.Cys101fs, XP_047295827.1:p.Cys101fs

                                        20.

                                        rs1386508946 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          20:63247616 (GRCh38)
                                          20:61878968 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:63247615:C:A,NC_000020.11:63247615:C:T
                                          Gene:
                                          NKAIN4 (Varview), LOC124904950 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD_exomes)
                                          T=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000020.11:g.63247616C>A, NC_000020.11:g.63247616C>T, NC_000020.10:g.61878968C>A, NC_000020.10:g.61878968C>T, XM_011528529.4:c.247G>T, XM_011528529.4:c.247G>A, XM_011528529.3:c.247G>T, XM_011528529.3:c.247G>A, XM_011528529.2:c.247G>T, XM_011528529.2:c.247G>A, XM_011528529.1:c.247G>T, XM_011528529.1:c.247G>A, XM_011528528.4:c.247G>T, XM_011528528.4:c.247G>A, XM_011528528.3:c.247G>T, XM_011528528.3:c.247G>A, XM_011528528.2:c.247G>T, XM_011528528.2:c.247G>A, XM_011528528.1:c.247G>T, XM_011528528.1:c.247G>A, NM_152864.4:c.433G>T, NM_152864.4:c.433G>A, NM_152864.3:c.433G>T, NM_152864.3:c.433G>A, XM_017027637.3:c.247G>T, XM_017027637.3:c.247G>A, XM_017027637.2:c.247G>T, XM_017027637.2:c.247G>A, XM_017027637.1:c.247G>T, XM_017027637.1:c.247G>A, XM_017027636.3:c.247G>T, XM_017027636.3:c.247G>A, XM_017027636.2:c.247G>T, XM_017027636.2:c.247G>A, XM_017027636.1:c.247G>T, XM_017027636.1:c.247G>A, XM_011528527.3:c.433G>T, XM_011528527.3:c.433G>A, XM_011528527.2:c.433G>T, XM_011528527.2:c.433G>A, XM_011528527.1:c.433G>T, XM_011528527.1:c.433G>A, XM_005260192.3:c.433G>T, XM_005260192.3:c.433G>A, XM_005260192.2:c.433G>T, XM_005260192.2:c.433G>A, XM_005260192.1:c.433G>T, XM_005260192.1:c.433G>A, XM_024451824.2:c.247G>T, XM_024451824.2:c.247G>A, XM_024451824.1:c.247G>T, XM_024451824.1:c.247G>A, XM_047440633.1:c.*1636C>A, XM_047440633.1:c.*1636C>T, NM_001363747.1:c.247G>T, NM_001363747.1:c.247G>A, XM_047439872.1:c.247G>T, XM_047439872.1:c.247G>A, NM_001363718.1:c.247G>T, NM_001363718.1:c.247G>A, XM_047439871.1:c.247G>T, XM_047439871.1:c.247G>A, XP_011526831.1:p.Val83Leu, XP_011526831.1:p.Val83Met, XP_011526830.1:p.Val83Leu, XP_011526830.1:p.Val83Met, NP_690603.3:p.Val145Leu, NP_690603.3:p.Val145Met, XP_016883126.1:p.Val83Leu, XP_016883126.1:p.Val83Met, XP_016883125.1:p.Val83Leu, XP_016883125.1:p.Val83Met, XP_011526829.1:p.Val145Leu, XP_011526829.1:p.Val145Met, XP_005260249.1:p.Val145Leu, XP_005260249.1:p.Val145Met, XP_024307592.1:p.Val83Leu, XP_024307592.1:p.Val83Met, NP_001350676.1:p.Val83Leu, NP_001350676.1:p.Val83Met, XP_047295828.1:p.Val83Leu, XP_047295828.1:p.Val83Met, NP_001350647.1:p.Val83Leu, NP_001350647.1:p.Val83Met, XP_047295827.1:p.Val83Leu, XP_047295827.1:p.Val83Met

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