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Items: 1 to 20 of 361

1.

rs1489387992 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    2:95405676 (GRCh38)
    2:96071424 (GRCh37)
    Canonical SPDI:
    NC_000002.12:95405675:C:A
    Gene:
    FAHD2A (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000002.12:g.95405676C>A, NC_000002.11:g.96071424C>A, NW_025791760.1:g.167783C>A, XM_011511288.3:c.118C>A, XM_011511288.2:c.118C>A, XM_011511288.1:c.118C>A, NM_016044.3:c.118C>A, NM_016044.2:c.118C>A, XM_011511284.3:c.118C>A, XM_011511284.2:c.118C>A, XM_011511284.1:c.118C>A, XM_011511283.3:c.118C>A, XM_011511283.2:c.118C>A, XM_011511283.1:c.118C>A, XM_011511285.3:c.118C>A, XM_011511285.2:c.118C>A, XM_011511285.1:c.118C>A, XM_011511287.3:c.118C>A, XM_011511287.2:c.118C>A, XM_011511287.1:c.118C>A, XM_011511286.3:c.118C>A, XM_011511286.2:c.118C>A, XM_011511286.1:c.118C>A, XM_011511290.3:c.118C>A, XM_011511290.2:c.118C>A, XM_011511290.1:c.118C>A, XM_017004248.2:c.118C>A, XM_017004248.1:c.118C>A, XM_017004250.2:c.118C>A, XM_017004250.1:c.118C>A, XM_047444620.1:c.118C>A, XR_007076378.1:n.2522C>A, XM_047444622.1:c.118C>A, XM_047444621.1:c.118C>A, XM_047444623.1:c.118C>A, XM_047444624.1:c.118C>A, XM_047444625.1:c.118C>A, XP_011509590.1:p.Pro40Thr, NP_057128.2:p.Pro40Thr, XP_011509586.1:p.Pro40Thr, XP_011509585.1:p.Pro40Thr, XP_011509587.1:p.Pro40Thr, XP_011509589.1:p.Pro40Thr, XP_011509588.1:p.Pro40Thr, XP_011509592.1:p.Pro40Thr, XP_016859737.1:p.Pro40Thr, XP_016859739.1:p.Pro40Thr, XP_047300576.1:p.Pro40Thr, XP_047300578.1:p.Pro40Thr, XP_047300577.1:p.Pro40Thr, XP_047300579.1:p.Pro40Thr, XP_047300580.1:p.Pro40Thr, XP_047300581.1:p.Pro40Thr

    2.

    rs1487454838 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      2:95412694 (GRCh38)
      2:96078442 (GRCh37)
      Canonical SPDI:
      NC_000002.12:95412693:C:T
      Gene:
      FAHD2A (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000004/1 (TOPMED)
      HGVS:
      NC_000002.12:g.95412694C>T, NC_000002.11:g.96078442C>T, NW_025791760.1:g.174803C>T, XM_011511288.3:c.812C>T, XM_011511288.2:c.812C>T, XM_011511288.1:c.812C>T, NM_016044.3:c.812C>T, NM_016044.2:c.812C>T, XM_011511284.3:c.812C>T, XM_011511284.2:c.812C>T, XM_011511284.1:c.812C>T, XM_011511283.3:c.812C>T, XM_011511283.2:c.812C>T, XM_011511283.1:c.812C>T, XM_011511285.3:c.812C>T, XM_011511285.2:c.812C>T, XM_011511285.1:c.812C>T, XM_011511287.3:c.812C>T, XM_011511287.2:c.812C>T, XM_011511287.1:c.812C>T, XM_011511286.3:c.812C>T, XM_011511286.2:c.812C>T, XM_011511286.1:c.812C>T, XM_047444620.1:c.812C>T, XP_011509590.1:p.Pro271Leu, NP_057128.2:p.Pro271Leu, XP_011509586.1:p.Pro271Leu, XP_011509585.1:p.Pro271Leu, XP_011509587.1:p.Pro271Leu, XP_011509589.1:p.Pro271Leu, XP_011509588.1:p.Pro271Leu, XP_047300576.1:p.Pro271Leu

      3.

      rs1477673996 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TCT>- [Show Flanks]
        Chromosome:
        2:95410982 (GRCh38)
        2:96076730 (GRCh37)
        Canonical SPDI:
        NC_000002.12:95410979:CTTCT:CT
        Gene:
        FAHD2A (Varview)
        Functional Consequence:
        inframe_deletion,intron_variant,non_coding_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        CT=0./0 (ALFA)
        -=0.000004/1 (GnomAD_exomes)
        -=0.000004/1 (TOPMED)
        HGVS:
        NC_000002.12:g.95410982_95410984del, NC_000002.11:g.96076730_96076732del, NW_025791760.1:g.173091_173093del, XM_011511288.3:c.641_643del, XM_011511288.2:c.641_643del, XM_011511288.1:c.641_643del, NM_016044.3:c.641_643del, NM_016044.2:c.641_643del, XM_011511284.3:c.641_643del, XM_011511284.2:c.641_643del, XM_011511284.1:c.641_643del, XM_011511283.3:c.641_643del, XM_011511283.2:c.641_643del, XM_011511283.1:c.641_643del, XM_011511285.3:c.641_643del, XM_011511285.2:c.641_643del, XM_011511285.1:c.641_643del, XM_011511287.3:c.641_643del, XM_011511287.2:c.641_643del, XM_011511287.1:c.641_643del, XM_011511286.3:c.641_643del, XM_011511286.2:c.641_643del, XM_011511286.1:c.641_643del, XM_047444620.1:c.641_643del, XR_007076378.1:n.3045_3047del, XP_011509590.1:p.Phe214del, NP_057128.2:p.Phe214del, XP_011509586.1:p.Phe214del, XP_011509585.1:p.Phe214del, XP_011509587.1:p.Phe214del, XP_011509589.1:p.Phe214del, XP_011509588.1:p.Phe214del, XP_047300576.1:p.Phe214del

        4.

        rs1473533640 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          2:95406981 (GRCh38)
          2:96072729 (GRCh37)
          Canonical SPDI:
          NC_000002.12:95406980:G:T
          Gene:
          FAHD2A (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0.00008/1 (ALFA)
          HGVS:
          NC_000002.12:g.95406981G>T, NC_000002.11:g.96072729G>T, NW_025791760.1:g.169088G>T, XM_011511288.3:c.286G>T, XM_011511288.2:c.286G>T, XM_011511288.1:c.286G>T, NM_016044.3:c.286G>T, NM_016044.2:c.286G>T, XM_011511284.3:c.286G>T, XM_011511284.2:c.286G>T, XM_011511284.1:c.286G>T, XM_011511283.3:c.286G>T, XM_011511283.2:c.286G>T, XM_011511283.1:c.286G>T, XM_011511285.3:c.286G>T, XM_011511285.2:c.286G>T, XM_011511285.1:c.286G>T, XM_011511287.3:c.286G>T, XM_011511287.2:c.286G>T, XM_011511287.1:c.286G>T, XM_011511286.3:c.286G>T, XM_011511286.2:c.286G>T, XM_011511286.1:c.286G>T, XM_011511290.3:c.286G>T, XM_011511290.2:c.286G>T, XM_011511290.1:c.286G>T, XM_017004248.2:c.286G>T, XM_017004248.1:c.286G>T, XM_017004250.2:c.286G>T, XM_017004250.1:c.286G>T, XM_047444620.1:c.286G>T, XM_047444621.1:c.286G>T, XM_047444623.1:c.286G>T, XM_047444624.1:c.286G>T, XM_047444625.1:c.286G>T, XM_047444622.1:c.286G>T, XR_007076378.1:n.2690G>T, XP_011509590.1:p.Val96Leu, NP_057128.2:p.Val96Leu, XP_011509586.1:p.Val96Leu, XP_011509585.1:p.Val96Leu, XP_011509587.1:p.Val96Leu, XP_011509589.1:p.Val96Leu, XP_011509588.1:p.Val96Leu, XP_011509592.1:p.Val96Leu, XP_016859737.1:p.Val96Leu, XP_016859739.1:p.Val96Leu, XP_047300576.1:p.Val96Leu, XP_047300577.1:p.Val96Leu, XP_047300579.1:p.Val96Leu, XP_047300580.1:p.Val96Leu, XP_047300581.1:p.Val96Leu, XP_047300578.1:p.Val96Leu

          5.

          rs1472621730 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            2:95412533 (GRCh38)
            2:96078281 (GRCh37)
            Canonical SPDI:
            NC_000002.12:95412532:G:A
            Gene:
            FAHD2A (Varview)
            Functional Consequence:
            coding_sequence_variant,stop_gained,3_prime_UTR_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            A=0.000008/2 (GnomAD_exomes)
            HGVS:
            NC_000002.12:g.95412533G>A, NC_000002.11:g.96078281G>A, NW_025791760.1:g.174642G>A, XM_011511288.3:c.785G>A, XM_011511288.2:c.785G>A, XM_011511288.1:c.785G>A, NM_016044.3:c.785G>A, NM_016044.2:c.785G>A, XM_011511284.3:c.785G>A, XM_011511284.2:c.785G>A, XM_011511284.1:c.785G>A, XM_011511283.3:c.785G>A, XM_011511283.2:c.785G>A, XM_011511283.1:c.785G>A, XM_011511285.3:c.785G>A, XM_011511285.2:c.785G>A, XM_011511285.1:c.785G>A, XM_011511287.3:c.785G>A, XM_011511287.2:c.785G>A, XM_011511287.1:c.785G>A, XM_011511286.3:c.785G>A, XM_011511286.2:c.785G>A, XM_011511286.1:c.785G>A, XM_011511290.3:c.*85G>A, XM_011511290.2:c.*85G>A, XM_017004248.2:c.*85G>A, XM_017004248.1:c.*85G>A, XM_017004250.2:c.*85G>A, XM_017004250.1:c.*85G>A, XM_047444620.1:c.785G>A, XR_007076378.1:n.3189G>A, XM_047444622.1:c.*85G>A, XM_047444621.1:c.*85G>A, XM_047444623.1:c.*85G>A, XM_047444624.1:c.*85G>A, XM_047444625.1:c.*85G>A, XP_011509590.1:p.Trp262Ter, NP_057128.2:p.Trp262Ter, XP_011509586.1:p.Trp262Ter, XP_011509585.1:p.Trp262Ter, XP_011509587.1:p.Trp262Ter, XP_011509589.1:p.Trp262Ter, XP_011509588.1:p.Trp262Ter, XP_047300576.1:p.Trp262Ter

            6.

            rs1464000133 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              2:95407019 (GRCh38)
              2:96072767 (GRCh37)
              Canonical SPDI:
              NC_000002.12:95407018:G:A,NC_000002.12:95407018:G:C
              Gene:
              FAHD2A (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000031/1 (ALFA)
              C=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:
              NC_000002.12:g.95407019G>A, NC_000002.12:g.95407019G>C, NC_000002.11:g.96072767G>A, NC_000002.11:g.96072767G>C, NW_025791760.1:g.169126G>A, NW_025791760.1:g.169126G>C, XM_011511288.3:c.324G>A, XM_011511288.3:c.324G>C, XM_011511288.2:c.324G>A, XM_011511288.2:c.324G>C, XM_011511288.1:c.324G>A, XM_011511288.1:c.324G>C, NM_016044.3:c.324G>A, NM_016044.3:c.324G>C, NM_016044.2:c.324G>A, NM_016044.2:c.324G>C, XM_011511284.3:c.324G>A, XM_011511284.3:c.324G>C, XM_011511284.2:c.324G>A, XM_011511284.2:c.324G>C, XM_011511284.1:c.324G>A, XM_011511284.1:c.324G>C, XM_011511283.3:c.324G>A, XM_011511283.3:c.324G>C, XM_011511283.2:c.324G>A, XM_011511283.2:c.324G>C, XM_011511283.1:c.324G>A, XM_011511283.1:c.324G>C, XM_011511285.3:c.324G>A, XM_011511285.3:c.324G>C, XM_011511285.2:c.324G>A, XM_011511285.2:c.324G>C, XM_011511285.1:c.324G>A, XM_011511285.1:c.324G>C, XM_011511287.3:c.324G>A, XM_011511287.3:c.324G>C, XM_011511287.2:c.324G>A, XM_011511287.2:c.324G>C, XM_011511287.1:c.324G>A, XM_011511287.1:c.324G>C, XM_011511286.3:c.324G>A, XM_011511286.3:c.324G>C, XM_011511286.2:c.324G>A, XM_011511286.2:c.324G>C, XM_011511286.1:c.324G>A, XM_011511286.1:c.324G>C, XM_011511290.3:c.324G>A, XM_011511290.3:c.324G>C, XM_011511290.2:c.324G>A, XM_011511290.2:c.324G>C, XM_011511290.1:c.324G>A, XM_011511290.1:c.324G>C, XM_017004248.2:c.324G>A, XM_017004248.2:c.324G>C, XM_017004248.1:c.324G>A, XM_017004248.1:c.324G>C, XM_017004250.2:c.324G>A, XM_017004250.2:c.324G>C, XM_017004250.1:c.324G>A, XM_017004250.1:c.324G>C, XM_047444620.1:c.324G>A, XM_047444620.1:c.324G>C, XM_047444621.1:c.324G>A, XM_047444621.1:c.324G>C, XM_047444623.1:c.324G>A, XM_047444623.1:c.324G>C, XM_047444624.1:c.324G>A, XM_047444624.1:c.324G>C, XM_047444625.1:c.324G>A, XM_047444625.1:c.324G>C, XM_047444622.1:c.324G>A, XM_047444622.1:c.324G>C, XR_007076378.1:n.2728G>A, XR_007076378.1:n.2728G>C

              7.

              rs1462455176 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                2:95405577 (GRCh38)
                2:96071325 (GRCh37)
                Canonical SPDI:
                NC_000002.12:95405576:A:G
                Gene:
                FAHD2A (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000002.12:g.95405577A>G, NC_000002.11:g.96071325A>G, NW_025791760.1:g.167684A>G, XM_011511288.3:c.19A>G, XM_011511288.2:c.19A>G, XM_011511288.1:c.19A>G, NM_016044.3:c.19A>G, NM_016044.2:c.19A>G, XM_011511284.3:c.19A>G, XM_011511284.2:c.19A>G, XM_011511284.1:c.19A>G, XM_011511283.3:c.19A>G, XM_011511283.2:c.19A>G, XM_011511283.1:c.19A>G, XM_011511285.3:c.19A>G, XM_011511285.2:c.19A>G, XM_011511285.1:c.19A>G, XM_011511287.3:c.19A>G, XM_011511287.2:c.19A>G, XM_011511287.1:c.19A>G, XM_011511286.3:c.19A>G, XM_011511286.2:c.19A>G, XM_011511286.1:c.19A>G, XM_011511290.3:c.19A>G, XM_011511290.2:c.19A>G, XM_011511290.1:c.19A>G, XM_017004248.2:c.19A>G, XM_017004248.1:c.19A>G, XM_017004250.2:c.19A>G, XM_017004250.1:c.19A>G, XM_047444620.1:c.19A>G, XM_047444621.1:c.19A>G, XM_047444623.1:c.19A>G, XM_047444624.1:c.19A>G, XM_047444625.1:c.19A>G, XM_047444622.1:c.19A>G, XR_007076378.1:n.2423A>G, XP_011509590.1:p.Arg7Gly, NP_057128.2:p.Arg7Gly, XP_011509586.1:p.Arg7Gly, XP_011509585.1:p.Arg7Gly, XP_011509587.1:p.Arg7Gly, XP_011509589.1:p.Arg7Gly, XP_011509588.1:p.Arg7Gly, XP_011509592.1:p.Arg7Gly, XP_016859737.1:p.Arg7Gly, XP_016859739.1:p.Arg7Gly, XP_047300576.1:p.Arg7Gly, XP_047300577.1:p.Arg7Gly, XP_047300579.1:p.Arg7Gly, XP_047300580.1:p.Arg7Gly, XP_047300581.1:p.Arg7Gly, XP_047300578.1:p.Arg7Gly

                8.

                rs1462446700 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  C>- [Show Flanks]
                  Chromosome:
                  2:95414336 (GRCh38)
                  2:96080084 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:95414335:C:
                  Gene:
                  FAHD2A (Varview)
                  Functional Consequence:
                  frameshift_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000021/3 (GnomAD)
                  HGVS:

                  9.

                  rs1459552092 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    2:95410911 (GRCh38)
                    2:96076659 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:95410910:C:T
                    Gene:
                    FAHD2A (Varview)
                    Functional Consequence:
                    synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000071/1 (ALFA)
                    T=0.000014/2 (GnomAD)
                    T=0.000019/5 (TOPMED)
                    T=0.00002/5 (GnomAD_exomes)
                    HGVS:

                    10.

                    rs1459167476 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      2:95405794 (GRCh38)
                      2:96071542 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:95405793:T:G
                      Gene:
                      FAHD2A (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000002.12:g.95405794T>G, NC_000002.11:g.96071542T>G, NW_025791760.1:g.167901T>G, XM_011511288.3:c.236T>G, XM_011511288.2:c.236T>G, XM_011511288.1:c.236T>G, NM_016044.3:c.236T>G, NM_016044.2:c.236T>G, XM_011511284.3:c.236T>G, XM_011511284.2:c.236T>G, XM_011511284.1:c.236T>G, XM_011511283.3:c.236T>G, XM_011511283.2:c.236T>G, XM_011511283.1:c.236T>G, XM_011511285.3:c.236T>G, XM_011511285.2:c.236T>G, XM_011511285.1:c.236T>G, XM_011511287.3:c.236T>G, XM_011511287.2:c.236T>G, XM_011511287.1:c.236T>G, XM_011511286.3:c.236T>G, XM_011511286.2:c.236T>G, XM_011511286.1:c.236T>G, XM_011511290.3:c.236T>G, XM_011511290.2:c.236T>G, XM_011511290.1:c.236T>G, XM_017004248.2:c.236T>G, XM_017004248.1:c.236T>G, XM_017004250.2:c.236T>G, XM_017004250.1:c.236T>G, XM_047444620.1:c.236T>G, XR_007076378.1:n.2640T>G, XM_047444622.1:c.236T>G, XM_047444621.1:c.236T>G, XM_047444623.1:c.236T>G, XM_047444624.1:c.236T>G, XM_047444625.1:c.236T>G, XP_011509590.1:p.Val79Gly, NP_057128.2:p.Val79Gly, XP_011509586.1:p.Val79Gly, XP_011509585.1:p.Val79Gly, XP_011509587.1:p.Val79Gly, XP_011509589.1:p.Val79Gly, XP_011509588.1:p.Val79Gly, XP_011509592.1:p.Val79Gly, XP_016859737.1:p.Val79Gly, XP_016859739.1:p.Val79Gly, XP_047300576.1:p.Val79Gly, XP_047300578.1:p.Val79Gly, XP_047300577.1:p.Val79Gly, XP_047300579.1:p.Val79Gly, XP_047300580.1:p.Val79Gly, XP_047300581.1:p.Val79Gly

                      11.

                      rs1458695317 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        2:95410873 (GRCh38)
                        2:96076621 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:95410872:G:T
                        Gene:
                        FAHD2A (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000008/2 (GnomAD_exomes)
                        T=0.000021/3 (GnomAD)
                        T=0.000023/6 (TOPMED)
                        HGVS:
                        NC_000002.12:g.95410873G>T, NC_000002.11:g.96076621G>T, NW_025791760.1:g.172982G>T, XM_011511288.3:c.532G>T, XM_011511288.2:c.532G>T, XM_011511288.1:c.532G>T, NM_016044.3:c.532G>T, NM_016044.2:c.532G>T, XM_011511284.3:c.532G>T, XM_011511284.2:c.532G>T, XM_011511284.1:c.532G>T, XM_011511283.3:c.532G>T, XM_011511283.2:c.532G>T, XM_011511283.1:c.532G>T, XM_011511285.3:c.532G>T, XM_011511285.2:c.532G>T, XM_011511285.1:c.532G>T, XM_011511287.3:c.532G>T, XM_011511287.2:c.532G>T, XM_011511287.1:c.532G>T, XM_011511286.3:c.532G>T, XM_011511286.2:c.532G>T, XM_011511286.1:c.532G>T, XM_047444620.1:c.532G>T, XR_007076378.1:n.2936G>T, XP_011509590.1:p.Ala178Ser, NP_057128.2:p.Ala178Ser, XP_011509586.1:p.Ala178Ser, XP_011509585.1:p.Ala178Ser, XP_011509587.1:p.Ala178Ser, XP_011509589.1:p.Ala178Ser, XP_011509588.1:p.Ala178Ser, XP_047300576.1:p.Ala178Ser

                        12.

                        rs1456773026 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          2:95407091 (GRCh38)
                          2:96072839 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:95407090:C:T
                          Gene:
                          FAHD2A (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000071/1 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000002.12:g.95407091C>T, NC_000002.11:g.96072839C>T, NW_025791760.1:g.169198C>T, XM_011511288.3:c.396C>T, XM_011511288.2:c.396C>T, XM_011511288.1:c.396C>T, NM_016044.3:c.396C>T, NM_016044.2:c.396C>T, XM_011511284.3:c.396C>T, XM_011511284.2:c.396C>T, XM_011511284.1:c.396C>T, XM_011511283.3:c.396C>T, XM_011511283.2:c.396C>T, XM_011511283.1:c.396C>T, XM_011511285.3:c.396C>T, XM_011511285.2:c.396C>T, XM_011511285.1:c.396C>T, XM_011511287.3:c.396C>T, XM_011511287.2:c.396C>T, XM_011511287.1:c.396C>T, XM_011511286.3:c.396C>T, XM_011511286.2:c.396C>T, XM_011511286.1:c.396C>T, XM_011511290.3:c.396C>T, XM_011511290.2:c.396C>T, XM_011511290.1:c.396C>T, XM_017004248.2:c.396C>T, XM_017004248.1:c.396C>T, XM_017004250.2:c.396C>T, XM_017004250.1:c.396C>T, XM_047444620.1:c.396C>T, XR_007076378.1:n.2800C>T, XM_047444622.1:c.396C>T, XM_047444621.1:c.396C>T, XM_047444623.1:c.396C>T, XM_047444624.1:c.396C>T, XM_047444625.1:c.396C>T

                          13.

                          rs1455181244 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            2:95412751 (GRCh38)
                            2:96078499 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:95412750:C:T
                            Gene:
                            FAHD2A (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000002.12:g.95412751C>T, NC_000002.11:g.96078499C>T, NW_025791760.1:g.174860C>T, XM_011511288.3:c.869C>T, XM_011511288.2:c.869C>T, XM_011511288.1:c.869C>T, NM_016044.3:c.869C>T, NM_016044.2:c.869C>T, XM_011511284.3:c.869C>T, XM_011511284.2:c.869C>T, XM_011511284.1:c.869C>T, XM_011511283.3:c.869C>T, XM_011511283.2:c.869C>T, XM_011511283.1:c.869C>T, XM_011511285.3:c.869C>T, XM_011511285.2:c.869C>T, XM_011511285.1:c.869C>T, XM_011511287.3:c.869C>T, XM_011511287.2:c.869C>T, XM_011511287.1:c.869C>T, XM_011511286.3:c.869C>T, XM_011511286.2:c.869C>T, XM_011511286.1:c.869C>T, XM_047444620.1:c.869C>T, XP_011509590.1:p.Pro290Leu, NP_057128.2:p.Pro290Leu, XP_011509586.1:p.Pro290Leu, XP_011509585.1:p.Pro290Leu, XP_011509587.1:p.Pro290Leu, XP_011509589.1:p.Pro290Leu, XP_011509588.1:p.Pro290Leu, XP_047300576.1:p.Pro290Leu

                            14.

                            rs1454432378 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              2:95405802 (GRCh38)
                              2:96071550 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:95405801:A:T
                              Gene:
                              FAHD2A (Varview)
                              Functional Consequence:
                              stop_gained,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000002.12:g.95405802A>T, NC_000002.11:g.96071550A>T, NW_025791760.1:g.167909A>T, XM_011511288.3:c.244A>T, XM_011511288.2:c.244A>T, XM_011511288.1:c.244A>T, NM_016044.3:c.244A>T, NM_016044.2:c.244A>T, XM_011511284.3:c.244A>T, XM_011511284.2:c.244A>T, XM_011511284.1:c.244A>T, XM_011511283.3:c.244A>T, XM_011511283.2:c.244A>T, XM_011511283.1:c.244A>T, XM_011511285.3:c.244A>T, XM_011511285.2:c.244A>T, XM_011511285.1:c.244A>T, XM_011511287.3:c.244A>T, XM_011511287.2:c.244A>T, XM_011511287.1:c.244A>T, XM_011511286.3:c.244A>T, XM_011511286.2:c.244A>T, XM_011511286.1:c.244A>T, XM_011511290.3:c.244A>T, XM_011511290.2:c.244A>T, XM_011511290.1:c.244A>T, XM_017004248.2:c.244A>T, XM_017004248.1:c.244A>T, XM_017004250.2:c.244A>T, XM_017004250.1:c.244A>T, XM_047444620.1:c.244A>T, XR_007076378.1:n.2648A>T, XM_047444622.1:c.244A>T, XM_047444621.1:c.244A>T, XM_047444623.1:c.244A>T, XM_047444624.1:c.244A>T, XM_047444625.1:c.244A>T, XP_011509590.1:p.Arg82Ter, NP_057128.2:p.Arg82Ter, XP_011509586.1:p.Arg82Ter, XP_011509585.1:p.Arg82Ter, XP_011509587.1:p.Arg82Ter, XP_011509589.1:p.Arg82Ter, XP_011509588.1:p.Arg82Ter, XP_011509592.1:p.Arg82Ter, XP_016859737.1:p.Arg82Ter, XP_016859739.1:p.Arg82Ter, XP_047300576.1:p.Arg82Ter, XP_047300578.1:p.Arg82Ter, XP_047300577.1:p.Arg82Ter, XP_047300579.1:p.Arg82Ter, XP_047300580.1:p.Arg82Ter, XP_047300581.1:p.Arg82Ter

                              15.

                              rs1453352763 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AAG>- [Show Flanks]
                                Chromosome:
                                2:95405579 (GRCh38)
                                2:96071327 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:95405573:AGAAGAAG:AGAAG
                                Gene:
                                FAHD2A (Varview)
                                Functional Consequence:
                                coding_sequence_variant,inframe_deletion,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AGAAG=0.000071/1 (ALFA)
                                -=0.000012/3 (GnomAD_exomes)
                                -=0.000014/2 (GnomAD)
                                -=0.000053/14 (TOPMED)
                                -=0.000071/2 (TOMMO)
                                HGVS:
                                NC_000002.12:g.95405576AAG[1], NC_000002.11:g.96071324AAG[1], NW_025791760.1:g.167683AAG[1], XM_011511288.3:c.18AAG[1], XM_011511288.2:c.18AAG[1], XM_011511288.1:c.18AAG[1], NM_016044.3:c.18AAG[1], NM_016044.2:c.18AAG[1], XM_011511284.3:c.18AAG[1], XM_011511284.2:c.18AAG[1], XM_011511284.1:c.18AAG[1], XM_011511283.3:c.18AAG[1], XM_011511283.2:c.18AAG[1], XM_011511283.1:c.18AAG[1], XM_011511285.3:c.18AAG[1], XM_011511285.2:c.18AAG[1], XM_011511285.1:c.18AAG[1], XM_011511287.3:c.18AAG[1], XM_011511287.2:c.18AAG[1], XM_011511287.1:c.18AAG[1], XM_011511286.3:c.18AAG[1], XM_011511286.2:c.18AAG[1], XM_011511286.1:c.18AAG[1], XM_011511290.3:c.18AAG[1], XM_011511290.2:c.18AAG[1], XM_011511290.1:c.18AAG[1], XM_017004248.2:c.18AAG[1], XM_017004248.1:c.18AAG[1], XM_017004250.2:c.18AAG[1], XM_017004250.1:c.18AAG[1], XM_047444620.1:c.18AAG[1], XR_007076378.1:n.2422AAG[1], XM_047444622.1:c.18AAG[1], XM_047444621.1:c.18AAG[1], XM_047444623.1:c.18AAG[1], XM_047444624.1:c.18AAG[1], XM_047444625.1:c.18AAG[1], XP_011509590.1:p.Arg8del, NP_057128.2:p.Arg8del, XP_011509586.1:p.Arg8del, XP_011509585.1:p.Arg8del, XP_011509587.1:p.Arg8del, XP_011509589.1:p.Arg8del, XP_011509588.1:p.Arg8del, XP_011509592.1:p.Arg8del, XP_016859737.1:p.Arg8del, XP_016859739.1:p.Arg8del, XP_047300576.1:p.Arg8del, XP_047300578.1:p.Arg8del, XP_047300577.1:p.Arg8del, XP_047300579.1:p.Arg8del, XP_047300580.1:p.Arg8del, XP_047300581.1:p.Arg8del

                                16.

                                rs1452304908 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  2:95414011 (GRCh38)
                                  2:96079759 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:95414010:A:G
                                  Gene:
                                  FAHD2A (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  G=0.000014/2 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1451060827 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    2:95413980 (GRCh38)
                                    2:96079728 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:95413979:A:G
                                    Gene:
                                    FAHD2A (Varview)
                                    Functional Consequence:
                                    synonymous_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000011/3 (TOPMED)
                                    G=0.000014/2 (GnomAD)
                                    G=0.000071/1 (TOMMO)
                                    HGVS:

                                    18.

                                    rs1450238397 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      2:95406960 (GRCh38)
                                      2:96072708 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:95406959:C:T
                                      Gene:
                                      FAHD2A (Varview)
                                      Functional Consequence:
                                      missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                      HGVS:
                                      NC_000002.12:g.95406960C>T, NC_000002.11:g.96072708C>T, NW_025791760.1:g.169067C>T, XM_011511288.3:c.265C>T, XM_011511288.2:c.265C>T, XM_011511288.1:c.265C>T, NM_016044.3:c.265C>T, NM_016044.2:c.265C>T, XM_011511284.3:c.265C>T, XM_011511284.2:c.265C>T, XM_011511284.1:c.265C>T, XM_011511283.3:c.265C>T, XM_011511283.2:c.265C>T, XM_011511283.1:c.265C>T, XM_011511285.3:c.265C>T, XM_011511285.2:c.265C>T, XM_011511285.1:c.265C>T, XM_011511287.3:c.265C>T, XM_011511287.2:c.265C>T, XM_011511287.1:c.265C>T, XM_011511286.3:c.265C>T, XM_011511286.2:c.265C>T, XM_011511286.1:c.265C>T, XM_011511290.3:c.265C>T, XM_011511290.2:c.265C>T, XM_011511290.1:c.265C>T, XM_017004248.2:c.265C>T, XM_017004248.1:c.265C>T, XM_017004250.2:c.265C>T, XM_017004250.1:c.265C>T, XM_047444620.1:c.265C>T, XM_047444621.1:c.265C>T, XM_047444623.1:c.265C>T, XM_047444624.1:c.265C>T, XM_047444625.1:c.265C>T, XM_047444622.1:c.265C>T, XR_007076378.1:n.2669C>T, XP_011509590.1:p.Pro89Ser, NP_057128.2:p.Pro89Ser, XP_011509586.1:p.Pro89Ser, XP_011509585.1:p.Pro89Ser, XP_011509587.1:p.Pro89Ser, XP_011509589.1:p.Pro89Ser, XP_011509588.1:p.Pro89Ser, XP_011509592.1:p.Pro89Ser, XP_016859737.1:p.Pro89Ser, XP_016859739.1:p.Pro89Ser, XP_047300576.1:p.Pro89Ser, XP_047300577.1:p.Pro89Ser, XP_047300579.1:p.Pro89Ser, XP_047300580.1:p.Pro89Ser, XP_047300581.1:p.Pro89Ser, XP_047300578.1:p.Pro89Ser

                                      19.

                                      rs1448971442 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        2:95407153 (GRCh38)
                                        2:96072901 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:95407152:G:A
                                        Gene:
                                        FAHD2A (Varview)
                                        Functional Consequence:
                                        missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000002.12:g.95407153G>A, NC_000002.11:g.96072901G>A, NW_025791760.1:g.169260G>A, XM_011511288.3:c.458G>A, XM_011511288.2:c.458G>A, XM_011511288.1:c.458G>A, NM_016044.3:c.458G>A, NM_016044.2:c.458G>A, XM_011511284.3:c.458G>A, XM_011511284.2:c.458G>A, XM_011511284.1:c.458G>A, XM_011511283.3:c.458G>A, XM_011511283.2:c.458G>A, XM_011511283.1:c.458G>A, XM_011511285.3:c.458G>A, XM_011511285.2:c.458G>A, XM_011511285.1:c.458G>A, XM_011511287.3:c.458G>A, XM_011511287.2:c.458G>A, XM_011511287.1:c.458G>A, XM_011511286.3:c.458G>A, XM_011511286.2:c.458G>A, XM_011511286.1:c.458G>A, XM_011511290.3:c.458G>A, XM_011511290.2:c.458G>A, XM_011511290.1:c.458G>A, XM_017004248.2:c.458G>A, XM_017004248.1:c.458G>A, XM_017004250.2:c.458G>A, XM_017004250.1:c.458G>A, XM_047444620.1:c.458G>A, XR_007076378.1:n.2862G>A, XM_047444622.1:c.458G>A, XM_047444621.1:c.458G>A, XM_047444623.1:c.458G>A, XM_047444624.1:c.458G>A, XM_047444625.1:c.458G>A, XP_011509590.1:p.Ser153Asn, NP_057128.2:p.Ser153Asn, XP_011509586.1:p.Ser153Asn, XP_011509585.1:p.Ser153Asn, XP_011509587.1:p.Ser153Asn, XP_011509589.1:p.Ser153Asn, XP_011509588.1:p.Ser153Asn, XP_011509592.1:p.Ser153Asn, XP_016859737.1:p.Ser153Asn, XP_016859739.1:p.Ser153Asn, XP_047300576.1:p.Ser153Asn, XP_047300578.1:p.Ser153Asn, XP_047300577.1:p.Ser153Asn, XP_047300579.1:p.Ser153Asn, XP_047300580.1:p.Ser153Asn, XP_047300581.1:p.Ser153Asn

                                        20.

                                        rs1448341343 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->TG [Show Flanks]
                                          Chromosome:
                                          2:95407019 (GRCh38)
                                          2:96072768 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:95407019:GTGTGTGTG:GTGTGTGTGTG
                                          Gene:
                                          FAHD2A (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          GTGTGTGTGTG=0./0 (ALFA)
                                          GT=0.000008/2 (TOPMED)
                                          GT=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000002.12:g.95407021TG[5], NC_000002.11:g.96072769TG[5], NW_025791760.1:g.169128TG[5], XM_011511288.3:c.332_333dup, XM_011511288.2:c.332_333dup, XM_011511288.1:c.332_333dup, NM_016044.3:c.332_333dup, NM_016044.2:c.332_333dup, XM_011511284.3:c.332_333dup, XM_011511284.2:c.332_333dup, XM_011511284.1:c.332_333dup, XM_011511283.3:c.332_333dup, XM_011511283.2:c.332_333dup, XM_011511283.1:c.332_333dup, XM_011511285.3:c.332_333dup, XM_011511285.2:c.332_333dup, XM_011511285.1:c.332_333dup, XM_011511287.3:c.332_333dup, XM_011511287.2:c.332_333dup, XM_011511287.1:c.332_333dup, XM_011511286.3:c.332_333dup, XM_011511286.2:c.332_333dup, XM_011511286.1:c.332_333dup, XM_011511290.3:c.332_333dup, XM_011511290.2:c.332_333dup, XM_011511290.1:c.332_333dup, XM_017004248.2:c.332_333dup, XM_017004248.1:c.332_333dup, XM_017004250.2:c.332_333dup, XM_017004250.1:c.332_333dup, XM_047444620.1:c.332_333dup, XM_047444621.1:c.332_333dup, XM_047444623.1:c.332_333dup, XM_047444624.1:c.332_333dup, XM_047444625.1:c.332_333dup, XM_047444622.1:c.332_333dup, XR_007076378.1:n.2730TG[5], XP_011509590.1:p.Gly112fs, NP_057128.2:p.Gly112fs, XP_011509586.1:p.Gly112fs, XP_011509585.1:p.Gly112fs, XP_011509587.1:p.Gly112fs, XP_011509589.1:p.Gly112fs, XP_011509588.1:p.Gly112fs, XP_011509592.1:p.Gly112fs, XP_016859737.1:p.Gly112fs, XP_016859739.1:p.Gly112fs, XP_047300576.1:p.Gly112fs, XP_047300577.1:p.Gly112fs, XP_047300579.1:p.Gly112fs, XP_047300580.1:p.Gly112fs, XP_047300581.1:p.Gly112fs, XP_047300578.1:p.Gly112fs

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