U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 296

1.

rs1487890870 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    6:45105957 (GRCh38)
    6:45073694 (GRCh37)
    Canonical SPDI:
    NC_000006.12:45105956:C:T
    Gene:
    SUPT3H (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    NC_000006.12:g.45105957C>T, NC_000006.11:g.45073694C>T, XM_011514954.4:c.151G>A, XM_011514954.3:c.151G>A, XM_011514954.2:c.151G>A, XM_011514954.1:c.151G>A, XM_011514949.4:c.184G>A, XM_011514949.3:c.184G>A, XM_011514949.2:c.184G>A, XM_011514949.1:c.184G>A, XM_011514953.4:c.151G>A, XM_011514953.3:c.151G>A, XM_011514953.2:c.151G>A, XM_011514953.1:c.151G>A, NM_003599.4:c.151G>A, NM_003599.3:c.151G>A, XR_926319.4:n.235G>A, XR_926319.3:n.235G>A, XR_926319.2:n.235G>A, XR_926319.1:n.235G>A, XM_011514952.3:c.151G>A, XM_011514952.2:c.151G>A, XM_011514952.1:c.151G>A, NM_181356.3:c.184G>A, NM_181356.2:c.184G>A, XM_017011374.3:c.-208G>A, XM_017011374.2:c.-208G>A, XM_017011374.1:c.-208G>A, XM_017011371.2:c.151G>A, XM_017011371.1:c.151G>A, XM_024446572.2:c.151G>A, XM_024446572.1:c.151G>A, XM_017011370.2:c.184G>A, XM_017011370.1:c.184G>A, NM_001350326.2:c.88G>A, NM_001350326.1:c.88G>A, NM_001350324.2:c.151G>A, NM_001350324.1:c.151G>A, NM_001350325.2:c.151G>A, NM_001350325.1:c.151G>A, NM_001350329.2:c.151G>A, NM_001350329.1:c.151G>A, NM_001261823.2:c.-215G>A, NM_001261823.1:c.-215G>A, NR_146635.2:n.310G>A, NR_146635.1:n.166G>A, NR_146632.2:n.318G>A, NR_146632.1:n.248G>A, NR_146634.2:n.310G>A, NR_146634.1:n.268G>A, XR_001743692.2:n.318G>A, XR_001743692.1:n.435G>A, XM_047419416.1:c.151G>A, XR_007059345.1:n.332G>A, NR_146633.1:n.310G>A, XR_007059346.1:n.318G>A, XR_926320.1:n.235G>A, XR_007059347.1:n.310G>A, XR_926321.1:n.235G>A, XM_047419417.1:c.184G>A, XP_011513256.1:p.Val51Ile, XP_011513251.1:p.Val62Ile, XP_011513255.1:p.Val51Ile, NP_003590.1:p.Val51Ile, XP_011513254.1:p.Val51Ile, NP_852001.1:p.Val62Ile, XP_016866860.1:p.Val51Ile, XP_024302340.1:p.Val51Ile, XP_016866859.1:p.Val62Ile, NP_001337255.1:p.Val30Ile, NP_001337253.1:p.Val51Ile, NP_001337254.1:p.Val51Ile, NP_001337258.1:p.Val51Ile, XP_047275372.1:p.Val51Ile, XP_047275373.1:p.Val62Ile

    2.

    rs1485384971 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      6:44953310 (GRCh38)
      6:44921047 (GRCh37)
      Canonical SPDI:
      NC_000006.12:44953309:C:T
      Gene:
      SUPT3H (Varview)
      Functional Consequence:
      coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant
      HGVS:
      NC_000006.12:g.44953310C>T, NC_000006.11:g.44921047C>T, XM_011514954.4:c.801G>A, XM_011514954.3:c.801G>A, XM_011514954.2:c.801G>A, XM_011514954.1:c.801G>A, XM_011514949.4:c.834G>A, XM_011514949.3:c.834G>A, XM_011514949.2:c.834G>A, XM_011514949.1:c.834G>A, XM_011514953.4:c.801G>A, XM_011514953.3:c.801G>A, XM_011514953.2:c.801G>A, XM_011514953.1:c.801G>A, NM_003599.4:c.801G>A, NM_003599.3:c.801G>A, XR_926319.4:n.885G>A, XR_926319.3:n.885G>A, XR_926319.2:n.885G>A, XR_926319.1:n.885G>A, XM_011514952.3:c.801G>A, XM_011514952.2:c.801G>A, XM_011514952.1:c.801G>A, NM_181356.3:c.834G>A, NM_181356.2:c.834G>A, XM_017011374.3:c.543G>A, XM_017011374.2:c.543G>A, XM_017011374.1:c.543G>A, XM_017011371.2:c.801G>A, XM_017011371.1:c.801G>A, XM_024446572.2:c.801G>A, XM_024446572.1:c.801G>A, XM_017011370.2:c.834G>A, XM_017011370.1:c.834G>A, NM_001350326.2:c.738G>A, NM_001350326.1:c.738G>A, NM_001350324.2:c.801G>A, NM_001350324.1:c.801G>A, NM_001350325.2:c.795G>A, NM_001350325.1:c.795G>A, NM_001350329.2:c.801G>A, NM_001350329.1:c.801G>A, NM_001350327.2:c.543G>A, NM_001350327.1:c.543G>A, NM_001261823.2:c.345G>A, NM_001261823.1:c.345G>A, NR_146635.2:n.960G>A, NR_146635.1:n.816G>A, NR_146632.2:n.968G>A, NR_146632.1:n.898G>A, NR_146634.2:n.954G>A, NR_146634.1:n.912G>A, XR_001743692.2:n.855G>A, XR_001743692.1:n.972G>A, XM_047419416.1:c.801G>A, XR_007059345.1:n.982G>A, NR_146633.1:n.960G>A, XR_007059346.1:n.968G>A, XR_926320.1:n.885G>A, XR_007059347.1:n.847G>A, XR_926321.1:n.772G>A, XM_047419417.1:c.*1G>A

      3.

      rs1483903931 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        6:45105942 (GRCh38)
        6:45073679 (GRCh37)
        Canonical SPDI:
        NC_000006.12:45105941:G:A
        Gene:
        SUPT3H (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000006.12:g.45105942G>A, NC_000006.11:g.45073679G>A, XM_011514954.4:c.166C>T, XM_011514954.3:c.166C>T, XM_011514954.2:c.166C>T, XM_011514954.1:c.166C>T, XM_011514949.4:c.199C>T, XM_011514949.3:c.199C>T, XM_011514949.2:c.199C>T, XM_011514949.1:c.199C>T, XM_011514953.4:c.166C>T, XM_011514953.3:c.166C>T, XM_011514953.2:c.166C>T, XM_011514953.1:c.166C>T, NM_003599.4:c.166C>T, NM_003599.3:c.166C>T, XR_926319.4:n.250C>T, XR_926319.3:n.250C>T, XR_926319.2:n.250C>T, XR_926319.1:n.250C>T, XM_011514952.3:c.166C>T, XM_011514952.2:c.166C>T, XM_011514952.1:c.166C>T, NM_181356.3:c.199C>T, NM_181356.2:c.199C>T, XM_017011374.3:c.-193C>T, XM_017011374.2:c.-193C>T, XM_017011374.1:c.-193C>T, XM_017011371.2:c.166C>T, XM_017011371.1:c.166C>T, XM_024446572.2:c.166C>T, XM_024446572.1:c.166C>T, XM_017011370.2:c.199C>T, XM_017011370.1:c.199C>T, NM_001350326.2:c.103C>T, NM_001350326.1:c.103C>T, NM_001350324.2:c.166C>T, NM_001350324.1:c.166C>T, NM_001350325.2:c.166C>T, NM_001350325.1:c.166C>T, NM_001350329.2:c.166C>T, NM_001350329.1:c.166C>T, NM_001261823.2:c.-200C>T, NM_001261823.1:c.-200C>T, NR_146635.2:n.325C>T, NR_146635.1:n.181C>T, NR_146632.2:n.333C>T, NR_146632.1:n.263C>T, NR_146634.2:n.325C>T, NR_146634.1:n.283C>T, XR_001743692.2:n.333C>T, XR_001743692.1:n.450C>T, XM_047419416.1:c.166C>T, XR_007059345.1:n.347C>T, NR_146633.1:n.325C>T, XR_007059346.1:n.333C>T, XR_926320.1:n.250C>T, XR_007059347.1:n.325C>T, XR_926321.1:n.250C>T, XM_047419417.1:c.199C>T, XP_011513256.1:p.His56Tyr, XP_011513251.1:p.His67Tyr, XP_011513255.1:p.His56Tyr, NP_003590.1:p.His56Tyr, XP_011513254.1:p.His56Tyr, NP_852001.1:p.His67Tyr, XP_016866860.1:p.His56Tyr, XP_024302340.1:p.His56Tyr, XP_016866859.1:p.His67Tyr, NP_001337255.1:p.His35Tyr, NP_001337253.1:p.His56Tyr, NP_001337254.1:p.His56Tyr, NP_001337258.1:p.His56Tyr, XP_047275372.1:p.His56Tyr, XP_047275373.1:p.His67Tyr

        4.

        rs1483822613 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          6:44954501 (GRCh38)
          6:44922238 (GRCh37)
          Canonical SPDI:
          NC_000006.12:44954500:C:T
          Gene:
          SUPT3H (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0.000084/1 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000006.12:g.44954501C>T, NC_000006.11:g.44922238C>T, XM_011514954.4:c.687G>A, XM_011514954.3:c.687G>A, XM_011514954.2:c.687G>A, XM_011514954.1:c.687G>A, XM_011514949.4:c.720G>A, XM_011514949.3:c.720G>A, XM_011514949.2:c.720G>A, XM_011514949.1:c.720G>A, XM_011514953.4:c.687G>A, XM_011514953.3:c.687G>A, XM_011514953.2:c.687G>A, XM_011514953.1:c.687G>A, NM_003599.4:c.687G>A, NM_003599.3:c.687G>A, XR_926319.4:n.771G>A, XR_926319.3:n.771G>A, XR_926319.2:n.771G>A, XR_926319.1:n.771G>A, XM_011514952.3:c.687G>A, XM_011514952.2:c.687G>A, XM_011514952.1:c.687G>A, NM_181356.3:c.720G>A, NM_181356.2:c.720G>A, XM_017011374.3:c.429G>A, XM_017011374.2:c.429G>A, XM_017011374.1:c.429G>A, XM_017011371.2:c.687G>A, XM_017011371.1:c.687G>A, XM_024446572.2:c.687G>A, XM_024446572.1:c.687G>A, XM_017011370.2:c.720G>A, XM_017011370.1:c.720G>A, NM_001350326.2:c.624G>A, NM_001350326.1:c.624G>A, NM_001350324.2:c.687G>A, NM_001350324.1:c.687G>A, NM_001350325.2:c.681G>A, NM_001350325.1:c.681G>A, NM_001350329.2:c.687G>A, NM_001350329.1:c.687G>A, NM_001350327.2:c.429G>A, NM_001350327.1:c.429G>A, NM_001261823.2:c.231G>A, NM_001261823.1:c.231G>A, NR_146635.2:n.846G>A, NR_146635.1:n.702G>A, NR_146632.2:n.854G>A, NR_146632.1:n.784G>A, NR_146634.2:n.840G>A, NR_146634.1:n.798G>A, XM_047419416.1:c.687G>A, XR_007059345.1:n.868G>A, NR_146633.1:n.846G>A, XR_007059346.1:n.854G>A, XR_926320.1:n.771G>A

          5.

          rs1478001126 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            6:45003729 (GRCh38)
            6:44971466 (GRCh37)
            Canonical SPDI:
            NC_000006.12:45003728:G:A,NC_000006.12:45003728:G:C
            Gene:
            SUPT3H (Varview)
            Functional Consequence:
            non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000011/3 (TOPMED)
            A=0.000035/1 (TOMMO)
            HGVS:
            NC_000006.12:g.45003729G>A, NC_000006.12:g.45003729G>C, NC_000006.11:g.44971466G>A, NC_000006.11:g.44971466G>C, XM_011514954.4:c.428C>T, XM_011514954.4:c.428C>G, XM_011514954.3:c.428C>T, XM_011514954.3:c.428C>G, XM_011514954.2:c.428C>T, XM_011514954.2:c.428C>G, XM_011514954.1:c.428C>T, XM_011514954.1:c.428C>G, XM_011514949.4:c.461C>T, XM_011514949.4:c.461C>G, XM_011514949.3:c.461C>T, XM_011514949.3:c.461C>G, XM_011514949.2:c.461C>T, XM_011514949.2:c.461C>G, XM_011514949.1:c.461C>T, XM_011514949.1:c.461C>G, XM_011514953.4:c.428C>T, XM_011514953.4:c.428C>G, XM_011514953.3:c.428C>T, XM_011514953.3:c.428C>G, XM_011514953.2:c.428C>T, XM_011514953.2:c.428C>G, XM_011514953.1:c.428C>T, XM_011514953.1:c.428C>G, NM_003599.4:c.428C>T, NM_003599.4:c.428C>G, NM_003599.3:c.428C>T, NM_003599.3:c.428C>G, XR_926319.4:n.512C>T, XR_926319.4:n.512C>G, XR_926319.3:n.512C>T, XR_926319.3:n.512C>G, XR_926319.2:n.512C>T, XR_926319.2:n.512C>G, XR_926319.1:n.512C>T, XR_926319.1:n.512C>G, XM_011514952.3:c.428C>T, XM_011514952.3:c.428C>G, XM_011514952.2:c.428C>T, XM_011514952.2:c.428C>G, XM_011514952.1:c.428C>T, XM_011514952.1:c.428C>G, NM_181356.3:c.461C>T, NM_181356.3:c.461C>G, NM_181356.2:c.461C>T, NM_181356.2:c.461C>G, XM_017011374.3:c.170C>T, XM_017011374.3:c.170C>G, XM_017011374.2:c.170C>T, XM_017011374.2:c.170C>G, XM_017011374.1:c.170C>T, XM_017011374.1:c.170C>G, XM_017011371.2:c.428C>T, XM_017011371.2:c.428C>G, XM_017011371.1:c.428C>T, XM_017011371.1:c.428C>G, XM_024446572.2:c.428C>T, XM_024446572.2:c.428C>G, XM_024446572.1:c.428C>T, XM_024446572.1:c.428C>G, XM_017011370.2:c.461C>T, XM_017011370.2:c.461C>G, XM_017011370.1:c.461C>T, XM_017011370.1:c.461C>G, NM_001350326.2:c.365C>T, NM_001350326.2:c.365C>G, NM_001350326.1:c.365C>T, NM_001350326.1:c.365C>G, NM_001350324.2:c.428C>T, NM_001350324.2:c.428C>G, NM_001350324.1:c.428C>T, NM_001350324.1:c.428C>G, NM_001350325.2:c.422C>T, NM_001350325.2:c.422C>G, NM_001350325.1:c.422C>T, NM_001350325.1:c.422C>G, NM_001350329.2:c.428C>T, NM_001350329.2:c.428C>G, NM_001350329.1:c.428C>T, NM_001350329.1:c.428C>G, NM_001350327.2:c.170C>T, NM_001350327.2:c.170C>G, NM_001350327.1:c.170C>T, NM_001350327.1:c.170C>G, NM_001261823.2:c.-29C>T, NM_001261823.2:c.-29C>G, NM_001261823.1:c.-29C>T, NM_001261823.1:c.-29C>G, NR_146635.2:n.587C>T, NR_146635.2:n.587C>G, NR_146635.1:n.443C>T, NR_146635.1:n.443C>G, NR_146632.2:n.595C>T, NR_146632.2:n.595C>G, NR_146632.1:n.525C>T, NR_146632.1:n.525C>G, NR_146634.2:n.581C>T, NR_146634.2:n.581C>G, NR_146634.1:n.539C>T, NR_146634.1:n.539C>G, XR_001743692.2:n.595C>T, XR_001743692.2:n.595C>G, XR_001743692.1:n.712C>T, XR_001743692.1:n.712C>G, XM_047419416.1:c.428C>T, XM_047419416.1:c.428C>G, XR_007059345.1:n.609C>T, XR_007059345.1:n.609C>G, NR_146633.1:n.587C>T, NR_146633.1:n.587C>G, XR_007059346.1:n.595C>T, XR_007059346.1:n.595C>G, XR_926320.1:n.512C>T, XR_926320.1:n.512C>G, XR_007059347.1:n.587C>T, XR_007059347.1:n.587C>G, XR_926321.1:n.512C>T, XR_926321.1:n.512C>G, XM_047419417.1:c.461C>T, XM_047419417.1:c.461C>G, XP_011513256.1:p.Ser143Phe, XP_011513256.1:p.Ser143Cys, XP_011513251.1:p.Ser154Phe, XP_011513251.1:p.Ser154Cys, XP_011513255.1:p.Ser143Phe, XP_011513255.1:p.Ser143Cys, NP_003590.1:p.Ser143Phe, NP_003590.1:p.Ser143Cys, XP_011513254.1:p.Ser143Phe, XP_011513254.1:p.Ser143Cys, NP_852001.1:p.Ser154Phe, NP_852001.1:p.Ser154Cys, XP_016866863.1:p.Ser57Phe, XP_016866863.1:p.Ser57Cys, XP_016866860.1:p.Ser143Phe, XP_016866860.1:p.Ser143Cys, XP_024302340.1:p.Ser143Phe, XP_024302340.1:p.Ser143Cys, XP_016866859.1:p.Ser154Phe, XP_016866859.1:p.Ser154Cys, NP_001337255.1:p.Ser122Phe, NP_001337255.1:p.Ser122Cys, NP_001337253.1:p.Ser143Phe, NP_001337253.1:p.Ser143Cys, NP_001337254.1:p.Ser141Phe, NP_001337254.1:p.Ser141Cys, NP_001337258.1:p.Ser143Phe, NP_001337258.1:p.Ser143Cys, NP_001337256.1:p.Ser57Phe, NP_001337256.1:p.Ser57Cys, XP_047275372.1:p.Ser143Phe, XP_047275372.1:p.Ser143Cys, XP_047275373.1:p.Ser154Phe, XP_047275373.1:p.Ser154Cys

            6.

            rs1477557452 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              6:45322905 (GRCh38)
              6:45290642 (GRCh37)
              Canonical SPDI:
              NC_000006.12:45322904:A:G
              Gene:
              SUPT3H (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,intron_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:

              7.

              rs1473419833 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                6:44961806 (GRCh38)
                6:44929543 (GRCh37)
                Canonical SPDI:
                NC_000006.12:44961805:A:G
                Gene:
                SUPT3H (Varview)
                Functional Consequence:
                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000006.12:g.44961806A>G, NC_000006.11:g.44929543A>G, XM_011514954.4:c.527T>C, XM_011514954.3:c.527T>C, XM_011514954.2:c.527T>C, XM_011514954.1:c.527T>C, XM_011514949.4:c.560T>C, XM_011514949.3:c.560T>C, XM_011514949.2:c.560T>C, XM_011514949.1:c.560T>C, XM_011514953.4:c.527T>C, XM_011514953.3:c.527T>C, XM_011514953.2:c.527T>C, XM_011514953.1:c.527T>C, NM_003599.4:c.527T>C, NM_003599.3:c.527T>C, XR_926319.4:n.611T>C, XR_926319.3:n.611T>C, XR_926319.2:n.611T>C, XR_926319.1:n.611T>C, XM_011514952.3:c.527T>C, XM_011514952.2:c.527T>C, XM_011514952.1:c.527T>C, NM_181356.3:c.560T>C, NM_181356.2:c.560T>C, XM_017011374.3:c.269T>C, XM_017011374.2:c.269T>C, XM_017011374.1:c.269T>C, XM_017011371.2:c.527T>C, XM_017011371.1:c.527T>C, XM_024446572.2:c.527T>C, XM_024446572.1:c.527T>C, XM_017011370.2:c.560T>C, XM_017011370.1:c.560T>C, NM_001350326.2:c.464T>C, NM_001350326.1:c.464T>C, NM_001350324.2:c.527T>C, NM_001350324.1:c.527T>C, NM_001350325.2:c.521T>C, NM_001350325.1:c.521T>C, NM_001350329.2:c.527T>C, NM_001350329.1:c.527T>C, NM_001350327.2:c.269T>C, NM_001350327.1:c.269T>C, NM_001261823.2:c.71T>C, NM_001261823.1:c.71T>C, NR_146635.2:n.686T>C, NR_146635.1:n.542T>C, NR_146632.2:n.694T>C, NR_146632.1:n.624T>C, NR_146634.2:n.680T>C, NR_146634.1:n.638T>C, XR_001743692.2:n.694T>C, XR_001743692.1:n.811T>C, XM_047419416.1:c.527T>C, XR_007059345.1:n.708T>C, NR_146633.1:n.686T>C, XR_007059346.1:n.694T>C, XR_926320.1:n.611T>C, XR_007059347.1:n.686T>C, XR_926321.1:n.611T>C, XM_047419417.1:c.560T>C, XP_011513256.1:p.Ile176Thr, XP_011513251.1:p.Ile187Thr, XP_011513255.1:p.Ile176Thr, NP_003590.1:p.Ile176Thr, XP_011513254.1:p.Ile176Thr, NP_852001.1:p.Ile187Thr, XP_016866863.1:p.Ile90Thr, XP_016866860.1:p.Ile176Thr, XP_024302340.1:p.Ile176Thr, XP_016866859.1:p.Ile187Thr, NP_001337255.1:p.Ile155Thr, NP_001337253.1:p.Ile176Thr, NP_001337254.1:p.Ile174Thr, NP_001337258.1:p.Ile176Thr, NP_001337256.1:p.Ile90Thr, NP_001248752.1:p.Ile24Thr, XP_047275372.1:p.Ile176Thr, XP_047275373.1:p.Ile187Thr

                8.

                rs1468364994 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  6:45020582 (GRCh38)
                  6:44988319 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:45020581:A:G
                  Gene:
                  SUPT3H (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0.000111/1 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000006.12:g.45020582A>G, NC_000006.11:g.44988319A>G, XM_011514954.4:c.237T>C, XM_011514954.3:c.237T>C, XM_011514954.2:c.237T>C, XM_011514954.1:c.237T>C, XM_011514949.4:c.270T>C, XM_011514949.3:c.270T>C, XM_011514949.2:c.270T>C, XM_011514949.1:c.270T>C, XM_011514953.4:c.237T>C, XM_011514953.3:c.237T>C, XM_011514953.2:c.237T>C, XM_011514953.1:c.237T>C, NM_003599.4:c.237T>C, NM_003599.3:c.237T>C, XR_926319.4:n.321T>C, XR_926319.3:n.321T>C, XR_926319.2:n.321T>C, XR_926319.1:n.321T>C, XM_011514952.3:c.237T>C, XM_011514952.2:c.237T>C, XM_011514952.1:c.237T>C, NM_181356.3:c.270T>C, NM_181356.2:c.270T>C, XM_017011374.3:c.-22T>C, XM_017011374.2:c.-22T>C, XM_017011374.1:c.-22T>C, XM_017011371.2:c.237T>C, XM_017011371.1:c.237T>C, XM_024446572.2:c.237T>C, XM_024446572.1:c.237T>C, XM_017011370.2:c.270T>C, XM_017011370.1:c.270T>C, NM_001350326.2:c.174T>C, NM_001350326.1:c.174T>C, NM_001350324.2:c.237T>C, NM_001350324.1:c.237T>C, NM_001350325.2:c.231T>C, NM_001350325.1:c.231T>C, NM_001350329.2:c.237T>C, NM_001350329.1:c.237T>C, NM_001350327.2:c.-22T>C, NM_001350327.1:c.-22T>C, NM_001261823.2:c.-129T>C, NM_001261823.1:c.-129T>C, NR_146635.2:n.396T>C, NR_146635.1:n.252T>C, NR_146632.2:n.404T>C, NR_146632.1:n.334T>C, NR_146634.2:n.390T>C, NR_146634.1:n.348T>C, XR_001743692.2:n.404T>C, XR_001743692.1:n.521T>C, XM_047419416.1:c.237T>C, XR_007059345.1:n.418T>C, NR_146633.1:n.396T>C, XR_007059346.1:n.404T>C, XR_926320.1:n.321T>C, XR_007059347.1:n.396T>C, XR_926321.1:n.321T>C, XM_047419417.1:c.270T>C

                  9.

                  rs1464255198 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    6:44954591 (GRCh38)
                    6:44922328 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:44954590:T:C
                    Gene:
                    SUPT3H (Varview)
                    Functional Consequence:
                    synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000006.12:g.44954591T>C, NC_000006.11:g.44922328T>C, XM_011514954.4:c.597A>G, XM_011514954.3:c.597A>G, XM_011514954.2:c.597A>G, XM_011514954.1:c.597A>G, XM_011514949.4:c.630A>G, XM_011514949.3:c.630A>G, XM_011514949.2:c.630A>G, XM_011514949.1:c.630A>G, XM_011514953.4:c.597A>G, XM_011514953.3:c.597A>G, XM_011514953.2:c.597A>G, XM_011514953.1:c.597A>G, NM_003599.4:c.597A>G, NM_003599.3:c.597A>G, XR_926319.4:n.681A>G, XR_926319.3:n.681A>G, XR_926319.2:n.681A>G, XR_926319.1:n.681A>G, XM_011514952.3:c.597A>G, XM_011514952.2:c.597A>G, XM_011514952.1:c.597A>G, NM_181356.3:c.630A>G, NM_181356.2:c.630A>G, XM_017011374.3:c.339A>G, XM_017011374.2:c.339A>G, XM_017011374.1:c.339A>G, XM_017011371.2:c.597A>G, XM_017011371.1:c.597A>G, XM_024446572.2:c.597A>G, XM_024446572.1:c.597A>G, XM_017011370.2:c.630A>G, XM_017011370.1:c.630A>G, NM_001350326.2:c.534A>G, NM_001350326.1:c.534A>G, NM_001350324.2:c.597A>G, NM_001350324.1:c.597A>G, NM_001350325.2:c.591A>G, NM_001350325.1:c.591A>G, NM_001350329.2:c.597A>G, NM_001350329.1:c.597A>G, NM_001350327.2:c.339A>G, NM_001350327.1:c.339A>G, NM_001261823.2:c.141A>G, NM_001261823.1:c.141A>G, NR_146635.2:n.756A>G, NR_146635.1:n.612A>G, NR_146632.2:n.764A>G, NR_146632.1:n.694A>G, NR_146634.2:n.750A>G, NR_146634.1:n.708A>G, XM_047419416.1:c.597A>G, XR_007059345.1:n.778A>G, NR_146633.1:n.756A>G, XR_007059346.1:n.764A>G, XR_926320.1:n.681A>G

                    10.

                    rs1455522564 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C,G [Show Flanks]
                      Chromosome:
                      6:45322909 (GRCh38)
                      6:45290646 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:45322908:A:C,NC_000006.12:45322908:A:G
                      Gene:
                      SUPT3H (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      G=0.000035/1 (TOMMO)
                      HGVS:
                      NC_000006.12:g.45322909A>C, NC_000006.12:g.45322909A>G, NC_000006.11:g.45290646A>C, NC_000006.11:g.45290646A>G, XM_011514949.4:c.8T>G, XM_011514949.4:c.8T>C, XM_011514949.3:c.8T>G, XM_011514949.3:c.8T>C, XM_011514949.2:c.8T>G, XM_011514949.2:c.8T>C, XM_011514949.1:c.8T>G, XM_011514949.1:c.8T>C, XR_926319.4:n.59T>G, XR_926319.4:n.59T>C, XR_926319.3:n.59T>G, XR_926319.3:n.59T>C, XR_926319.2:n.59T>G, XR_926319.2:n.59T>C, XR_926319.1:n.59T>G, XR_926319.1:n.59T>C, NM_181356.3:c.8T>G, NM_181356.3:c.8T>C, NM_181356.2:c.8T>G, NM_181356.2:c.8T>C, XM_017011370.2:c.8T>G, XM_017011370.2:c.8T>C, XM_017011370.1:c.8T>G, XM_017011370.1:c.8T>C, NM_001350326.2:c.8T>G, NM_001350326.2:c.8T>C, NM_001350326.1:c.8T>G, NM_001350326.1:c.8T>C, XR_926320.1:n.59T>G, XR_926320.1:n.59T>C, XR_926321.1:n.59T>G, XR_926321.1:n.59T>C, XM_047419417.1:c.8T>G, XM_047419417.1:c.8T>C, XP_011513251.1:p.Val3Gly, XP_011513251.1:p.Val3Ala, NP_852001.1:p.Val3Gly, NP_852001.1:p.Val3Ala, XP_016866859.1:p.Val3Gly, XP_016866859.1:p.Val3Ala, NP_001337255.1:p.Val3Gly, NP_001337255.1:p.Val3Ala, XP_047275373.1:p.Val3Gly, XP_047275373.1:p.Val3Ala

                      11.

                      rs1453743504 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AGA>- [Show Flanks]
                        Chromosome:
                        6:45014809 (GRCh38)
                        6:44982546 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:45014805:AGAAGA:AGA
                        Gene:
                        SUPT3H (Varview)
                        Functional Consequence:
                        inframe_deletion,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AGAAGA=0.000071/1 (ALFA)
                        -=0.000004/1 (GnomAD_exomes)
                        -=0.000011/3 (TOPMED)
                        -=0.000021/3 (GnomAD)
                        HGVS:
                        NC_000006.12:g.45014806AGA[1], NC_000006.11:g.44982543AGA[1], XM_011514954.4:c.354TCT[1], XM_011514954.3:c.354TCT[1], XM_011514954.2:c.354TCT[1], XM_011514954.1:c.354TCT[1], XM_011514949.4:c.387TCT[1], XM_011514949.3:c.387TCT[1], XM_011514949.2:c.387TCT[1], XM_011514949.1:c.387TCT[1], XM_011514953.4:c.354TCT[1], XM_011514953.3:c.354TCT[1], XM_011514953.2:c.354TCT[1], XM_011514953.1:c.354TCT[1], NM_003599.4:c.354TCT[1], NM_003599.3:c.354TCT[1], XR_926319.4:n.438TCT[1], XR_926319.3:n.438TCT[1], XR_926319.2:n.438TCT[1], XR_926319.1:n.438TCT[1], XM_011514952.3:c.354TCT[1], XM_011514952.2:c.354TCT[1], XM_011514952.1:c.354TCT[1], NM_181356.3:c.387TCT[1], NM_181356.2:c.387TCT[1], XM_017011374.3:c.96TCT[1], XM_017011374.2:c.96TCT[1], XM_017011374.1:c.96TCT[1], XM_017011371.2:c.354TCT[1], XM_017011371.1:c.354TCT[1], XM_024446572.2:c.354TCT[1], XM_024446572.1:c.354TCT[1], XM_017011370.2:c.387TCT[1], XM_017011370.1:c.387TCT[1], NM_001350326.2:c.291TCT[1], NM_001350326.1:c.291TCT[1], NM_001350324.2:c.354TCT[1], NM_001350324.1:c.354TCT[1], NM_001350325.2:c.348TCT[1], NM_001350325.1:c.348TCT[1], NM_001350329.2:c.354TCT[1], NM_001350329.1:c.354TCT[1], NM_001350327.2:c.96TCT[1], NM_001350327.1:c.96TCT[1], NR_146635.2:n.513TCT[1], NR_146635.1:n.369TCT[1], NR_146632.2:n.521TCT[1], NR_146632.1:n.451TCT[1], NR_146634.2:n.507TCT[1], NR_146634.1:n.465TCT[1], XR_001743692.2:n.521TCT[1], XR_001743692.1:n.638TCT[1], XM_047419416.1:c.354TCT[1], XR_007059345.1:n.535TCT[1], NR_146633.1:n.513TCT[1], XR_007059346.1:n.521TCT[1], XR_926320.1:n.438TCT[1], XR_007059347.1:n.513TCT[1], XR_926321.1:n.438TCT[1], XM_047419417.1:c.387TCT[1], XP_011513256.1:p.Leu120del, XP_011513251.1:p.Leu131del, XP_011513255.1:p.Leu120del, NP_003590.1:p.Leu120del, XP_011513254.1:p.Leu120del, NP_852001.1:p.Leu131del, XP_016866863.1:p.Leu34del, XP_016866860.1:p.Leu120del, XP_024302340.1:p.Leu120del, XP_016866859.1:p.Leu131del, NP_001337255.1:p.Leu99del, NP_001337253.1:p.Leu120del, NP_001337254.1:p.Leu118del, NP_001337258.1:p.Leu120del, NP_001337256.1:p.Leu34del, XP_047275372.1:p.Leu120del, XP_047275373.1:p.Leu131del

                        12.

                        rs1453431179 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          6:44953347 (GRCh38)
                          6:44921084 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:44953346:A:G
                          Gene:
                          SUPT3H (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000006.12:g.44953347A>G, NC_000006.11:g.44921084A>G, XM_011514954.4:c.764T>C, XM_011514954.3:c.764T>C, XM_011514954.2:c.764T>C, XM_011514954.1:c.764T>C, XM_011514949.4:c.797T>C, XM_011514949.3:c.797T>C, XM_011514949.2:c.797T>C, XM_011514949.1:c.797T>C, XM_011514953.4:c.764T>C, XM_011514953.3:c.764T>C, XM_011514953.2:c.764T>C, XM_011514953.1:c.764T>C, NM_003599.4:c.764T>C, NM_003599.3:c.764T>C, XR_926319.4:n.848T>C, XR_926319.3:n.848T>C, XR_926319.2:n.848T>C, XR_926319.1:n.848T>C, XM_011514952.3:c.764T>C, XM_011514952.2:c.764T>C, XM_011514952.1:c.764T>C, NM_181356.3:c.797T>C, NM_181356.2:c.797T>C, XM_017011374.3:c.506T>C, XM_017011374.2:c.506T>C, XM_017011374.1:c.506T>C, XM_017011371.2:c.764T>C, XM_017011371.1:c.764T>C, XM_024446572.2:c.764T>C, XM_024446572.1:c.764T>C, XM_017011370.2:c.797T>C, XM_017011370.1:c.797T>C, NM_001350326.2:c.701T>C, NM_001350326.1:c.701T>C, NM_001350324.2:c.764T>C, NM_001350324.1:c.764T>C, NM_001350325.2:c.758T>C, NM_001350325.1:c.758T>C, NM_001350329.2:c.764T>C, NM_001350329.1:c.764T>C, NM_001350327.2:c.506T>C, NM_001350327.1:c.506T>C, NM_001261823.2:c.308T>C, NM_001261823.1:c.308T>C, NR_146635.2:n.923T>C, NR_146635.1:n.779T>C, NR_146632.2:n.931T>C, NR_146632.1:n.861T>C, NR_146634.2:n.917T>C, NR_146634.1:n.875T>C, XR_001743692.2:n.818T>C, XR_001743692.1:n.935T>C, XM_047419416.1:c.764T>C, XR_007059345.1:n.945T>C, NR_146633.1:n.923T>C, XR_007059346.1:n.931T>C, XR_926320.1:n.848T>C, XR_007059347.1:n.810T>C, XR_926321.1:n.735T>C, XM_047419417.1:c.684T>C, XP_011513256.1:p.Ile255Thr, XP_011513251.1:p.Ile266Thr, XP_011513255.1:p.Ile255Thr, NP_003590.1:p.Ile255Thr, XP_011513254.1:p.Ile255Thr, NP_852001.1:p.Ile266Thr, XP_016866863.1:p.Ile169Thr, XP_016866860.1:p.Ile255Thr, XP_024302340.1:p.Ile255Thr, XP_016866859.1:p.Ile266Thr, NP_001337255.1:p.Ile234Thr, NP_001337253.1:p.Ile255Thr, NP_001337254.1:p.Ile253Thr, NP_001337258.1:p.Ile255Thr, NP_001337256.1:p.Ile169Thr, NP_001248752.1:p.Ile103Thr, XP_047275372.1:p.Ile255Thr

                          13.

                          rs1451174628 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            6:45020564 (GRCh38)
                            6:44988301 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:45020563:A:C
                            Gene:
                            SUPT3H (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000006.12:g.45020564A>C, NC_000006.11:g.44988301A>C, XM_011514954.4:c.255T>G, XM_011514954.3:c.255T>G, XM_011514954.2:c.255T>G, XM_011514954.1:c.255T>G, XM_011514949.4:c.288T>G, XM_011514949.3:c.288T>G, XM_011514949.2:c.288T>G, XM_011514949.1:c.288T>G, XM_011514953.4:c.255T>G, XM_011514953.3:c.255T>G, XM_011514953.2:c.255T>G, XM_011514953.1:c.255T>G, NM_003599.4:c.255T>G, NM_003599.3:c.255T>G, XR_926319.4:n.339T>G, XR_926319.3:n.339T>G, XR_926319.2:n.339T>G, XR_926319.1:n.339T>G, XM_011514952.3:c.255T>G, XM_011514952.2:c.255T>G, XM_011514952.1:c.255T>G, NM_181356.3:c.288T>G, NM_181356.2:c.288T>G, XM_017011374.3:c.-4T>G, XM_017011374.2:c.-4T>G, XM_017011374.1:c.-4T>G, XM_017011371.2:c.255T>G, XM_017011371.1:c.255T>G, XM_024446572.2:c.255T>G, XM_024446572.1:c.255T>G, XM_017011370.2:c.288T>G, XM_017011370.1:c.288T>G, NM_001350326.2:c.192T>G, NM_001350326.1:c.192T>G, NM_001350324.2:c.255T>G, NM_001350324.1:c.255T>G, NM_001350325.2:c.249T>G, NM_001350325.1:c.249T>G, NM_001350329.2:c.255T>G, NM_001350329.1:c.255T>G, NM_001350327.2:c.-4T>G, NM_001350327.1:c.-4T>G, NM_001261823.2:c.-111T>G, NM_001261823.1:c.-111T>G, NR_146635.2:n.414T>G, NR_146635.1:n.270T>G, NR_146632.2:n.422T>G, NR_146632.1:n.352T>G, NR_146634.2:n.408T>G, NR_146634.1:n.366T>G, XR_001743692.2:n.422T>G, XR_001743692.1:n.539T>G, XM_047419416.1:c.255T>G, XR_007059345.1:n.436T>G, NR_146633.1:n.414T>G, XR_007059346.1:n.422T>G, XR_926320.1:n.339T>G, XR_007059347.1:n.414T>G, XR_926321.1:n.339T>G, XM_047419417.1:c.288T>G, XP_011513256.1:p.Phe85Leu, XP_011513251.1:p.Phe96Leu, XP_011513255.1:p.Phe85Leu, NP_003590.1:p.Phe85Leu, XP_011513254.1:p.Phe85Leu, NP_852001.1:p.Phe96Leu, XP_016866860.1:p.Phe85Leu, XP_024302340.1:p.Phe85Leu, XP_016866859.1:p.Phe96Leu, NP_001337255.1:p.Phe64Leu, NP_001337253.1:p.Phe85Leu, NP_001337254.1:p.Phe83Leu, NP_001337258.1:p.Phe85Leu, XP_047275372.1:p.Phe85Leu, XP_047275373.1:p.Phe96Leu

                            14.

                            rs1450247249 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              TTTA>- [Show Flanks]
                              Chromosome:
                              6:45014869 (GRCh38)
                              6:44982606 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:45014868:TTTA:
                              Gene:
                              SUPT3H (Varview)
                              Functional Consequence:
                              frameshift_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                              HGVS:
                              NC_000006.12:g.45014869_45014872del, NC_000006.11:g.44982606_44982609del, XM_011514954.4:c.293_296del, XM_011514954.3:c.293_296del, XM_011514954.2:c.293_296del, XM_011514954.1:c.293_296del, XM_011514949.4:c.326_329del, XM_011514949.3:c.326_329del, XM_011514949.2:c.326_329del, XM_011514949.1:c.326_329del, XM_011514953.4:c.293_296del, XM_011514953.3:c.293_296del, XM_011514953.2:c.293_296del, XM_011514953.1:c.293_296del, NM_003599.4:c.293_296del, NM_003599.3:c.293_296del, XR_926319.4:n.377_380del, XR_926319.3:n.377_380del, XR_926319.2:n.377_380del, XR_926319.1:n.377_380del, XM_011514952.3:c.293_296del, XM_011514952.2:c.293_296del, XM_011514952.1:c.293_296del, NM_181356.3:c.326_329del, NM_181356.2:c.326_329del, XM_017011374.3:c.35_38del, XM_017011374.2:c.35_38del, XM_017011374.1:c.35_38del, XM_017011371.2:c.293_296del, XM_017011371.1:c.293_296del, XM_024446572.2:c.293_296del, XM_024446572.1:c.293_296del, XM_017011370.2:c.326_329del, XM_017011370.1:c.326_329del, NM_001350326.2:c.230_233del, NM_001350326.1:c.230_233del, NM_001350324.2:c.293_296del, NM_001350324.1:c.293_296del, NM_001350325.2:c.287_290del, NM_001350325.1:c.287_290del, NM_001350329.2:c.293_296del, NM_001350329.1:c.293_296del, NM_001350327.2:c.35_38del, NM_001350327.1:c.35_38del, NR_146635.2:n.452_455del, NR_146635.1:n.308_311del, NR_146632.2:n.460_463del, NR_146632.1:n.390_393del, NR_146634.2:n.446_449del, NR_146634.1:n.404_407del, XR_001743692.2:n.460_463del, XR_001743692.1:n.577_580del, XM_047419416.1:c.293_296del, XR_007059345.1:n.474_477del, NR_146633.1:n.452_455del, XR_007059346.1:n.460_463del, XR_926320.1:n.377_380del, XR_007059347.1:n.452_455del, XR_926321.1:n.377_380del, XM_047419417.1:c.326_329del, XP_011513256.1:p.Leu98fs, XP_011513251.1:p.Leu109fs, XP_011513255.1:p.Leu98fs, NP_003590.1:p.Leu98fs, XP_011513254.1:p.Leu98fs, NP_852001.1:p.Leu109fs, XP_016866863.1:p.Leu12fs, XP_016866860.1:p.Leu98fs, XP_024302340.1:p.Leu98fs, XP_016866859.1:p.Leu109fs, NP_001337255.1:p.Leu77fs, NP_001337253.1:p.Leu98fs, NP_001337254.1:p.Leu96fs, NP_001337258.1:p.Leu98fs, NP_001337256.1:p.Leu12fs, XP_047275372.1:p.Leu98fs, XP_047275373.1:p.Leu109fs

                              15.

                              rs1448670497 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                6:45322885 (GRCh38)
                                6:45290622 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:45322884:A:G
                                Gene:
                                SUPT3H (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:

                                16.

                                rs1446456211 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  6:45020552 (GRCh38)
                                  6:44988289 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:45020551:T:C
                                  Gene:
                                  SUPT3H (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000006.12:g.45020552T>C, NC_000006.11:g.44988289T>C, XM_011514954.4:c.267A>G, XM_011514954.3:c.267A>G, XM_011514954.2:c.267A>G, XM_011514954.1:c.267A>G, XM_011514949.4:c.300A>G, XM_011514949.3:c.300A>G, XM_011514949.2:c.300A>G, XM_011514949.1:c.300A>G, XM_011514953.4:c.267A>G, XM_011514953.3:c.267A>G, XM_011514953.2:c.267A>G, XM_011514953.1:c.267A>G, NM_003599.4:c.267A>G, NM_003599.3:c.267A>G, XR_926319.4:n.351A>G, XR_926319.3:n.351A>G, XR_926319.2:n.351A>G, XR_926319.1:n.351A>G, XM_011514952.3:c.267A>G, XM_011514952.2:c.267A>G, XM_011514952.1:c.267A>G, NM_181356.3:c.300A>G, NM_181356.2:c.300A>G, XM_017011374.3:c.9A>G, XM_017011374.2:c.9A>G, XM_017011374.1:c.9A>G, XM_017011371.2:c.267A>G, XM_017011371.1:c.267A>G, XM_024446572.2:c.267A>G, XM_024446572.1:c.267A>G, XM_017011370.2:c.300A>G, XM_017011370.1:c.300A>G, NM_001350326.2:c.204A>G, NM_001350326.1:c.204A>G, NM_001350324.2:c.267A>G, NM_001350324.1:c.267A>G, NM_001350325.2:c.261A>G, NM_001350325.1:c.261A>G, NM_001350329.2:c.267A>G, NM_001350329.1:c.267A>G, NM_001350327.2:c.9A>G, NM_001350327.1:c.9A>G, NM_001261823.2:c.-99A>G, NM_001261823.1:c.-99A>G, NR_146635.2:n.426A>G, NR_146635.1:n.282A>G, NR_146632.2:n.434A>G, NR_146632.1:n.364A>G, NR_146634.2:n.420A>G, NR_146634.1:n.378A>G, XR_001743692.2:n.434A>G, XR_001743692.1:n.551A>G, XM_047419416.1:c.267A>G, XR_007059345.1:n.448A>G, NR_146633.1:n.426A>G, XR_007059346.1:n.434A>G, XR_926320.1:n.351A>G, XR_007059347.1:n.426A>G, XR_926321.1:n.351A>G, XM_047419417.1:c.300A>G

                                  17.

                                  rs1441062356 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    6:44954605 (GRCh38)
                                    6:44922342 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:44954604:T:C
                                    Gene:
                                    SUPT3H (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000006.12:g.44954605T>C, NC_000006.11:g.44922342T>C, XM_011514954.4:c.583A>G, XM_011514954.3:c.583A>G, XM_011514954.2:c.583A>G, XM_011514954.1:c.583A>G, XM_011514949.4:c.616A>G, XM_011514949.3:c.616A>G, XM_011514949.2:c.616A>G, XM_011514949.1:c.616A>G, XM_011514953.4:c.583A>G, XM_011514953.3:c.583A>G, XM_011514953.2:c.583A>G, XM_011514953.1:c.583A>G, NM_003599.4:c.583A>G, NM_003599.3:c.583A>G, XR_926319.4:n.667A>G, XR_926319.3:n.667A>G, XR_926319.2:n.667A>G, XR_926319.1:n.667A>G, XM_011514952.3:c.583A>G, XM_011514952.2:c.583A>G, XM_011514952.1:c.583A>G, NM_181356.3:c.616A>G, NM_181356.2:c.616A>G, XM_017011374.3:c.325A>G, XM_017011374.2:c.325A>G, XM_017011374.1:c.325A>G, XM_017011371.2:c.583A>G, XM_017011371.1:c.583A>G, XM_024446572.2:c.583A>G, XM_024446572.1:c.583A>G, XM_017011370.2:c.616A>G, XM_017011370.1:c.616A>G, NM_001350326.2:c.520A>G, NM_001350326.1:c.520A>G, NM_001350324.2:c.583A>G, NM_001350324.1:c.583A>G, NM_001350325.2:c.577A>G, NM_001350325.1:c.577A>G, NM_001350329.2:c.583A>G, NM_001350329.1:c.583A>G, NM_001350327.2:c.325A>G, NM_001350327.1:c.325A>G, NM_001261823.2:c.127A>G, NM_001261823.1:c.127A>G, NR_146635.2:n.742A>G, NR_146635.1:n.598A>G, NR_146632.2:n.750A>G, NR_146632.1:n.680A>G, NR_146634.2:n.736A>G, NR_146634.1:n.694A>G, XM_047419416.1:c.583A>G, XR_007059345.1:n.764A>G, NR_146633.1:n.742A>G, XR_007059346.1:n.750A>G, XR_926320.1:n.667A>G, XP_011513256.1:p.Lys195Glu, XP_011513251.1:p.Lys206Glu, XP_011513255.1:p.Lys195Glu, NP_003590.1:p.Lys195Glu, XP_011513254.1:p.Lys195Glu, NP_852001.1:p.Lys206Glu, XP_016866863.1:p.Lys109Glu, XP_016866860.1:p.Lys195Glu, XP_024302340.1:p.Lys195Glu, XP_016866859.1:p.Lys206Glu, NP_001337255.1:p.Lys174Glu, NP_001337253.1:p.Lys195Glu, NP_001337254.1:p.Lys193Glu, NP_001337258.1:p.Lys195Glu, NP_001337256.1:p.Lys109Glu, NP_001248752.1:p.Lys43Glu, XP_047275372.1:p.Lys195Glu

                                    18.

                                    rs1439314064 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      6:44953353 (GRCh38)
                                      6:44921090 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:44953352:T:C
                                      Gene:
                                      SUPT3H (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,missense_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000006.12:g.44953353T>C, NC_000006.11:g.44921090T>C, XM_011514954.4:c.758A>G, XM_011514954.3:c.758A>G, XM_011514954.2:c.758A>G, XM_011514954.1:c.758A>G, XM_011514949.4:c.791A>G, XM_011514949.3:c.791A>G, XM_011514949.2:c.791A>G, XM_011514949.1:c.791A>G, XM_011514953.4:c.758A>G, XM_011514953.3:c.758A>G, XM_011514953.2:c.758A>G, XM_011514953.1:c.758A>G, NM_003599.4:c.758A>G, NM_003599.3:c.758A>G, XR_926319.4:n.842A>G, XR_926319.3:n.842A>G, XR_926319.2:n.842A>G, XR_926319.1:n.842A>G, XM_011514952.3:c.758A>G, XM_011514952.2:c.758A>G, XM_011514952.1:c.758A>G, NM_181356.3:c.791A>G, NM_181356.2:c.791A>G, XM_017011374.3:c.500A>G, XM_017011374.2:c.500A>G, XM_017011374.1:c.500A>G, XM_017011371.2:c.758A>G, XM_017011371.1:c.758A>G, XM_024446572.2:c.758A>G, XM_024446572.1:c.758A>G, XM_017011370.2:c.791A>G, XM_017011370.1:c.791A>G, NM_001350326.2:c.695A>G, NM_001350326.1:c.695A>G, NM_001350324.2:c.758A>G, NM_001350324.1:c.758A>G, NM_001350325.2:c.752A>G, NM_001350325.1:c.752A>G, NM_001350329.2:c.758A>G, NM_001350329.1:c.758A>G, NM_001350327.2:c.500A>G, NM_001350327.1:c.500A>G, NM_001261823.2:c.302A>G, NM_001261823.1:c.302A>G, NR_146635.2:n.917A>G, NR_146635.1:n.773A>G, NR_146632.2:n.925A>G, NR_146632.1:n.855A>G, NR_146634.2:n.911A>G, NR_146634.1:n.869A>G, XR_001743692.2:n.812A>G, XR_001743692.1:n.929A>G, XM_047419416.1:c.758A>G, XR_007059345.1:n.939A>G, NR_146633.1:n.917A>G, XR_007059346.1:n.925A>G, XR_926320.1:n.842A>G, XR_007059347.1:n.804A>G, XR_926321.1:n.729A>G, XM_047419417.1:c.678A>G, XP_011513256.1:p.His253Arg, XP_011513251.1:p.His264Arg, XP_011513255.1:p.His253Arg, NP_003590.1:p.His253Arg, XP_011513254.1:p.His253Arg, NP_852001.1:p.His264Arg, XP_016866863.1:p.His167Arg, XP_016866860.1:p.His253Arg, XP_024302340.1:p.His253Arg, XP_016866859.1:p.His264Arg, NP_001337255.1:p.His232Arg, NP_001337253.1:p.His253Arg, NP_001337254.1:p.His251Arg, NP_001337258.1:p.His253Arg, NP_001337256.1:p.His167Arg, NP_001248752.1:p.His101Arg, XP_047275372.1:p.His253Arg

                                      19.

                                      rs1438750645 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->T [Show Flanks]
                                        Chromosome:
                                        6:45003752 (GRCh38)
                                        6:44971490 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:45003752:TTTT:TTTTT
                                        Gene:
                                        SUPT3H (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,frameshift_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000006.12:g.45003756dup, NC_000006.11:g.44971493dup, XM_011514954.4:c.404dup, XM_011514954.3:c.404dup, XM_011514954.2:c.404dup, XM_011514954.1:c.404dup, XM_011514949.4:c.437dup, XM_011514949.3:c.437dup, XM_011514949.2:c.437dup, XM_011514949.1:c.437dup, XM_011514953.4:c.404dup, XM_011514953.3:c.404dup, XM_011514953.2:c.404dup, XM_011514953.1:c.404dup, NM_003599.4:c.404dup, NM_003599.3:c.404dup, XR_926319.4:n.488dup, XR_926319.3:n.488dup, XR_926319.2:n.488dup, XR_926319.1:n.488dup, XM_011514952.3:c.404dup, XM_011514952.2:c.404dup, XM_011514952.1:c.404dup, NM_181356.3:c.437dup, NM_181356.2:c.437dup, XM_017011374.3:c.146dup, XM_017011374.2:c.146dup, XM_017011374.1:c.146dup, XM_017011371.2:c.404dup, XM_017011371.1:c.404dup, XM_024446572.2:c.404dup, XM_024446572.1:c.404dup, XM_017011370.2:c.437dup, XM_017011370.1:c.437dup, NM_001350326.2:c.341dup, NM_001350326.1:c.341dup, NM_001350324.2:c.404dup, NM_001350324.1:c.404dup, NM_001350325.2:c.398dup, NM_001350325.1:c.398dup, NM_001350329.2:c.404dup, NM_001350329.1:c.404dup, NM_001350327.2:c.146dup, NM_001350327.1:c.146dup, NM_001261823.2:c.-53dup, NM_001261823.1:c.-53dup, NR_146635.2:n.563dup, NR_146635.1:n.419dup, NR_146632.2:n.571dup, NR_146632.1:n.501dup, NR_146634.2:n.557dup, NR_146634.1:n.515dup, XR_001743692.2:n.571dup, XR_001743692.1:n.688dup, XM_047419416.1:c.404dup, XR_007059345.1:n.585dup, NR_146633.1:n.563dup, XR_007059346.1:n.571dup, XR_926320.1:n.488dup, XR_007059347.1:n.563dup, XR_926321.1:n.488dup, XM_047419417.1:c.437dup, XP_011513256.1:p.Ile136fs, XP_011513251.1:p.Ile147fs, XP_011513255.1:p.Ile136fs, NP_003590.1:p.Ile136fs, XP_011513254.1:p.Ile136fs, NP_852001.1:p.Ile147fs, XP_016866863.1:p.Ile50fs, XP_016866860.1:p.Ile136fs, XP_024302340.1:p.Ile136fs, XP_016866859.1:p.Ile147fs, NP_001337255.1:p.Ile115fs, NP_001337253.1:p.Ile136fs, NP_001337254.1:p.Ile134fs, NP_001337258.1:p.Ile136fs, NP_001337256.1:p.Ile50fs, XP_047275372.1:p.Ile136fs, XP_047275373.1:p.Ile147fs

                                        20.

                                        rs1437835946 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          6:44954511 (GRCh38)
                                          6:44922248 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:44954510:T:C
                                          Gene:
                                          SUPT3H (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000006.12:g.44954511T>C, NC_000006.11:g.44922248T>C, XM_011514954.4:c.677A>G, XM_011514954.3:c.677A>G, XM_011514954.2:c.677A>G, XM_011514954.1:c.677A>G, XM_011514949.4:c.710A>G, XM_011514949.3:c.710A>G, XM_011514949.2:c.710A>G, XM_011514949.1:c.710A>G, XM_011514953.4:c.677A>G, XM_011514953.3:c.677A>G, XM_011514953.2:c.677A>G, XM_011514953.1:c.677A>G, NM_003599.4:c.677A>G, NM_003599.3:c.677A>G, XR_926319.4:n.761A>G, XR_926319.3:n.761A>G, XR_926319.2:n.761A>G, XR_926319.1:n.761A>G, XM_011514952.3:c.677A>G, XM_011514952.2:c.677A>G, XM_011514952.1:c.677A>G, NM_181356.3:c.710A>G, NM_181356.2:c.710A>G, XM_017011374.3:c.419A>G, XM_017011374.2:c.419A>G, XM_017011374.1:c.419A>G, XM_017011371.2:c.677A>G, XM_017011371.1:c.677A>G, XM_024446572.2:c.677A>G, XM_024446572.1:c.677A>G, XM_017011370.2:c.710A>G, XM_017011370.1:c.710A>G, NM_001350326.2:c.614A>G, NM_001350326.1:c.614A>G, NM_001350324.2:c.677A>G, NM_001350324.1:c.677A>G, NM_001350325.2:c.671A>G, NM_001350325.1:c.671A>G, NM_001350329.2:c.677A>G, NM_001350329.1:c.677A>G, NM_001350327.2:c.419A>G, NM_001350327.1:c.419A>G, NM_001261823.2:c.221A>G, NM_001261823.1:c.221A>G, NR_146635.2:n.836A>G, NR_146635.1:n.692A>G, NR_146632.2:n.844A>G, NR_146632.1:n.774A>G, NR_146634.2:n.830A>G, NR_146634.1:n.788A>G, XM_047419416.1:c.677A>G, XR_007059345.1:n.858A>G, NR_146633.1:n.836A>G, XR_007059346.1:n.844A>G, XR_926320.1:n.761A>G, XP_011513256.1:p.Tyr226Cys, XP_011513251.1:p.Tyr237Cys, XP_011513255.1:p.Tyr226Cys, NP_003590.1:p.Tyr226Cys, XP_011513254.1:p.Tyr226Cys, NP_852001.1:p.Tyr237Cys, XP_016866863.1:p.Tyr140Cys, XP_016866860.1:p.Tyr226Cys, XP_024302340.1:p.Tyr226Cys, XP_016866859.1:p.Tyr237Cys, NP_001337255.1:p.Tyr205Cys, NP_001337253.1:p.Tyr226Cys, NP_001337254.1:p.Tyr224Cys, NP_001337258.1:p.Tyr226Cys, NP_001337256.1:p.Tyr140Cys, NP_001248752.1:p.Tyr74Cys, XP_047275372.1:p.Tyr226Cys

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...