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Items: 1 to 20 of 345

1.

rs1490868669 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    3:141952935 (GRCh38)
    3:141671777 (GRCh37)
    Canonical SPDI:
    NC_000003.12:141952934:G:A
    Gene:
    TFDP2 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    NC_000003.12:g.141952935G>A, NC_000003.11:g.141671777G>A, NM_006286.5:c.953C>T, NM_006286.4:c.953C>T, XM_017007091.2:c.1133C>T, XM_017007091.1:c.1133C>T, NM_001178138.2:c.953C>T, NM_001178138.1:c.953C>T, NM_001178139.2:c.1133C>T, NM_001178139.1:c.1133C>T, NM_001178140.2:c.1049C>T, NM_001178140.1:c.1049C>T, NM_001178141.2:c.842C>T, NM_001178141.1:c.842C>T, NM_001178142.2:c.725C>T, NM_001178142.1:c.725C>T, NM_001375776.1:c.953C>T, NM_001375775.1:c.1067C>T, XM_047448775.1:c.1136C>T, NM_001375778.1:c.950C>T, NM_001375773.1:c.1136C>T, XM_047448777.1:c.1070C>T, XM_047448780.1:c.1067C>T, NM_001375780.1:c.794C>T, XM_047448779.1:c.1070C>T, XM_047448781.1:c.953C>T, XM_047448782.1:c.950C>T, XM_047448776.1:c.1085C>T, NM_001375774.1:c.1082C>T, XM_047448784.1:c.797C>T, XM_047448785.1:c.794C>T, NM_001375756.1:c.950C>T, NM_001375779.1:c.794C>T, NP_006277.1:p.Thr318Ile, XP_016862580.1:p.Thr378Ile, NP_001171609.1:p.Thr318Ile, NP_001171610.1:p.Thr378Ile, NP_001171611.1:p.Thr350Ile, NP_001171612.1:p.Thr281Ile, NP_001171613.1:p.Thr242Ile, NP_001362705.1:p.Thr318Ile, NP_001362704.1:p.Thr356Ile, XP_047304731.1:p.Thr379Ile, NP_001362707.1:p.Thr317Ile, NP_001362702.1:p.Thr379Ile, XP_047304733.1:p.Thr357Ile, XP_047304736.1:p.Thr356Ile, NP_001362709.1:p.Thr265Ile, XP_047304735.1:p.Thr357Ile, XP_047304737.1:p.Thr318Ile, XP_047304738.1:p.Thr317Ile, XP_047304732.1:p.Thr362Ile, NP_001362703.1:p.Thr361Ile, XP_047304740.1:p.Thr266Ile, XP_047304741.1:p.Thr265Ile, NP_001362685.1:p.Thr317Ile, NP_001362708.1:p.Thr265Ile

    2.

    rs1488238274 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      3:141970141 (GRCh38)
      3:141688983 (GRCh37)
      Canonical SPDI:
      NC_000003.12:141970140:T:C
      Gene:
      TFDP2 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000003.12:g.141970141T>C, NC_000003.11:g.141688983T>C, NM_006286.5:c.484A>G, NM_006286.4:c.484A>G, XM_011513107.3:c.667A>G, XM_011513107.2:c.667A>G, XM_011513107.1:c.667A>G, XM_017007100.3:c.664A>G, XM_017007100.2:c.664A>G, XM_017007100.1:c.664A>G, XM_017007091.2:c.664A>G, XM_017007091.1:c.664A>G, NM_001178138.2:c.484A>G, NM_001178138.1:c.484A>G, NM_001178139.2:c.664A>G, NM_001178139.1:c.664A>G, NM_001178140.2:c.580A>G, NM_001178140.1:c.580A>G, NM_001178141.2:c.373A>G, NM_001178141.1:c.373A>G, NM_001178142.2:c.256A>G, NM_001178142.1:c.256A>G, NM_001375776.1:c.484A>G, NM_001375775.1:c.598A>G, XM_047448775.1:c.667A>G, NM_001375778.1:c.481A>G, NM_001375773.1:c.667A>G, XM_047448777.1:c.601A>G, XM_047448780.1:c.598A>G, NM_001375780.1:c.325A>G, XM_047448779.1:c.601A>G, XM_047448781.1:c.484A>G, XM_047448782.1:c.481A>G, XM_047448776.1:c.616A>G, NM_001375774.1:c.613A>G, XM_047448784.1:c.328A>G, XM_047448785.1:c.325A>G, NM_001375756.1:c.481A>G, NM_001375779.1:c.325A>G, XM_047448783.1:c.664A>G, NP_006277.1:p.Ile162Val, XP_011511409.1:p.Ile223Val, XP_016862589.1:p.Ile222Val, XP_016862580.1:p.Ile222Val, NP_001171609.1:p.Ile162Val, NP_001171610.1:p.Ile222Val, NP_001171611.1:p.Ile194Val, NP_001171612.1:p.Ile125Val, NP_001171613.1:p.Ile86Val, NP_001362705.1:p.Ile162Val, NP_001362704.1:p.Ile200Val, XP_047304731.1:p.Ile223Val, NP_001362707.1:p.Ile161Val, NP_001362702.1:p.Ile223Val, XP_047304733.1:p.Ile201Val, XP_047304736.1:p.Ile200Val, NP_001362709.1:p.Ile109Val, XP_047304735.1:p.Ile201Val, XP_047304737.1:p.Ile162Val, XP_047304738.1:p.Ile161Val, XP_047304732.1:p.Ile206Val, NP_001362703.1:p.Ile205Val, XP_047304740.1:p.Ile110Val, XP_047304741.1:p.Ile109Val, NP_001362685.1:p.Ile161Val, NP_001362708.1:p.Ile109Val, XP_047304739.1:p.Ile222Val

      3.

      rs1486686235 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        3:142093068 (GRCh38)
        3:141811910 (GRCh37)
        Canonical SPDI:
        NC_000003.12:142093067:T:C
        Gene:
        TFDP2 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000007/1 (GnomAD)
        C=0.000015/4 (TOPMED)
        HGVS:

        4.

        rs1480215553 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          3:141978529 (GRCh38)
          3:141697371 (GRCh37)
          Canonical SPDI:
          NC_000003.12:141978528:A:T
          Gene:
          TFDP2 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000003.12:g.141978529A>T, NC_000003.11:g.141697371A>T, NM_006286.5:c.327T>A, NM_006286.4:c.327T>A, XM_011513107.3:c.510T>A, XM_011513107.2:c.510T>A, XM_011513107.1:c.510T>A, XM_017007100.3:c.510T>A, XM_017007100.2:c.510T>A, XM_017007100.1:c.510T>A, XM_017007091.2:c.510T>A, XM_017007091.1:c.510T>A, NM_001178138.2:c.327T>A, NM_001178138.1:c.327T>A, NM_001178139.2:c.510T>A, NM_001178139.1:c.510T>A, NM_001178140.2:c.426T>A, NM_001178140.1:c.426T>A, NM_001178141.2:c.219T>A, NM_001178141.1:c.219T>A, NM_001178142.2:c.102T>A, NM_001178142.1:c.102T>A, NM_001375776.1:c.327T>A, NM_001375775.1:c.444T>A, XM_047448775.1:c.510T>A, NM_001375778.1:c.327T>A, NM_001375773.1:c.510T>A, XM_047448777.1:c.444T>A, XM_047448780.1:c.444T>A, NM_001375780.1:c.171T>A, XM_047448779.1:c.444T>A, XM_047448781.1:c.327T>A, XM_047448782.1:c.327T>A, XM_047448776.1:c.459T>A, NM_001375774.1:c.459T>A, XM_047448784.1:c.171T>A, XM_047448785.1:c.171T>A, NM_001375756.1:c.327T>A, NM_001375779.1:c.171T>A, XM_047448783.1:c.510T>A

          5.

          rs1475523481 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            3:141995114 (GRCh38)
            3:141713956 (GRCh37)
            Canonical SPDI:
            NC_000003.12:141995113:T:C
            Gene:
            TFDP2 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,intron_variant
            HGVS:
            NC_000003.12:g.141995114T>C, NC_000003.11:g.141713956T>C, NM_006286.5:c.31A>G, NM_006286.4:c.31A>G, XM_011513107.3:c.214A>G, XM_011513107.2:c.214A>G, XM_011513107.1:c.214A>G, XM_017007100.3:c.214A>G, XM_017007100.2:c.214A>G, XM_017007100.1:c.214A>G, XM_017007091.2:c.214A>G, XM_017007091.1:c.214A>G, NM_001178138.2:c.31A>G, NM_001178138.1:c.31A>G, NM_001178139.2:c.214A>G, NM_001178139.1:c.214A>G, NM_001178140.2:c.130A>G, NM_001178140.1:c.130A>G, NM_001375776.1:c.31A>G, NM_001375775.1:c.148A>G, XM_047448775.1:c.214A>G, NM_001375778.1:c.31A>G, NM_001375773.1:c.214A>G, XM_047448777.1:c.148A>G, XM_047448780.1:c.148A>G, XM_047448779.1:c.148A>G, XM_047448781.1:c.31A>G, XM_047448782.1:c.31A>G, XM_047448776.1:c.163A>G, NM_001375774.1:c.163A>G, NM_001375756.1:c.31A>G, XM_047448783.1:c.214A>G, NP_006277.1:p.Ser11Gly, XP_011511409.1:p.Ser72Gly, XP_016862589.1:p.Ser72Gly, XP_016862580.1:p.Ser72Gly, NP_001171609.1:p.Ser11Gly, NP_001171610.1:p.Ser72Gly, NP_001171611.1:p.Ser44Gly, NP_001362705.1:p.Ser11Gly, NP_001362704.1:p.Ser50Gly, XP_047304731.1:p.Ser72Gly, NP_001362707.1:p.Ser11Gly, NP_001362702.1:p.Ser72Gly, XP_047304733.1:p.Ser50Gly, XP_047304736.1:p.Ser50Gly, XP_047304735.1:p.Ser50Gly, XP_047304737.1:p.Ser11Gly, XP_047304738.1:p.Ser11Gly, XP_047304732.1:p.Ser55Gly, NP_001362703.1:p.Ser55Gly, NP_001362685.1:p.Ser11Gly, XP_047304739.1:p.Ser72Gly

            6.

            rs1470163855 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              3:141974147 (GRCh38)
              3:141692989 (GRCh37)
              Canonical SPDI:
              NC_000003.12:141974146:T:G
              Gene:
              TFDP2 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000003.12:g.141974147T>G, NC_000003.11:g.141692989T>G, NM_006286.5:c.384A>C, NM_006286.4:c.384A>C, XM_011513107.3:c.567A>C, XM_011513107.2:c.567A>C, XM_011513107.1:c.567A>C, XM_017007100.3:c.564A>C, XM_017007100.2:c.564A>C, XM_017007100.1:c.564A>C, XM_017007091.2:c.564A>C, XM_017007091.1:c.564A>C, NM_001178138.2:c.384A>C, NM_001178138.1:c.384A>C, NM_001178139.2:c.564A>C, NM_001178139.1:c.564A>C, NM_001178140.2:c.480A>C, NM_001178140.1:c.480A>C, NM_001178141.2:c.273A>C, NM_001178141.1:c.273A>C, NM_001178142.2:c.156A>C, NM_001178142.1:c.156A>C, NM_001375776.1:c.384A>C, NM_001375775.1:c.498A>C, XM_047448775.1:c.567A>C, NM_001375778.1:c.381A>C, NM_001375773.1:c.567A>C, XM_047448777.1:c.501A>C, XM_047448780.1:c.498A>C, NM_001375780.1:c.225A>C, XM_047448779.1:c.501A>C, XM_047448781.1:c.384A>C, XM_047448782.1:c.381A>C, XM_047448776.1:c.516A>C, NM_001375774.1:c.513A>C, XM_047448784.1:c.228A>C, XM_047448785.1:c.225A>C, NM_001375756.1:c.381A>C, NM_001375779.1:c.225A>C, XM_047448783.1:c.564A>C, NP_006277.1:p.Leu128Phe, XP_011511409.1:p.Leu189Phe, XP_016862589.1:p.Leu188Phe, XP_016862580.1:p.Leu188Phe, NP_001171609.1:p.Leu128Phe, NP_001171610.1:p.Leu188Phe, NP_001171611.1:p.Leu160Phe, NP_001171612.1:p.Leu91Phe, NP_001171613.1:p.Leu52Phe, NP_001362705.1:p.Leu128Phe, NP_001362704.1:p.Leu166Phe, XP_047304731.1:p.Leu189Phe, NP_001362707.1:p.Leu127Phe, NP_001362702.1:p.Leu189Phe, XP_047304733.1:p.Leu167Phe, XP_047304736.1:p.Leu166Phe, NP_001362709.1:p.Leu75Phe, XP_047304735.1:p.Leu167Phe, XP_047304737.1:p.Leu128Phe, XP_047304738.1:p.Leu127Phe, XP_047304732.1:p.Leu172Phe, NP_001362703.1:p.Leu171Phe, XP_047304740.1:p.Leu76Phe, XP_047304741.1:p.Leu75Phe, NP_001362685.1:p.Leu127Phe, NP_001362708.1:p.Leu75Phe, XP_047304739.1:p.Leu188Phe

              7.

              rs1465759508 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                3:141978655 (GRCh38)
                3:141697497 (GRCh37)
                Canonical SPDI:
                NC_000003.12:141978654:A:G
                Gene:
                TFDP2 (Varview)
                Functional Consequence:
                5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000003.12:g.141978655A>G, NC_000003.11:g.141697497A>G, NM_006286.5:c.201T>C, NM_006286.4:c.201T>C, XM_011513107.3:c.384T>C, XM_011513107.2:c.384T>C, XM_011513107.1:c.384T>C, XM_017007100.3:c.384T>C, XM_017007100.2:c.384T>C, XM_017007100.1:c.384T>C, XM_017007091.2:c.384T>C, XM_017007091.1:c.384T>C, NM_001178138.2:c.201T>C, NM_001178138.1:c.201T>C, NM_001178139.2:c.384T>C, NM_001178139.1:c.384T>C, NM_001178140.2:c.300T>C, NM_001178140.1:c.300T>C, NM_001178141.2:c.93T>C, NM_001178141.1:c.93T>C, NM_001178142.2:c.-25T>C, NM_001178142.1:c.-25T>C, NM_001375776.1:c.201T>C, NM_001375775.1:c.318T>C, XM_047448775.1:c.384T>C, NM_001375778.1:c.201T>C, NM_001375773.1:c.384T>C, XM_047448777.1:c.318T>C, XM_047448780.1:c.318T>C, NM_001375780.1:c.45T>C, XM_047448779.1:c.318T>C, XM_047448781.1:c.201T>C, XM_047448782.1:c.201T>C, XM_047448776.1:c.333T>C, NM_001375774.1:c.333T>C, XM_047448784.1:c.45T>C, XM_047448785.1:c.45T>C, NM_001375756.1:c.201T>C, NM_001375779.1:c.45T>C, XM_047448783.1:c.384T>C

                8.

                rs1465704019 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  3:141959786 (GRCh38)
                  3:141678628 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:141959785:T:C
                  Gene:
                  TFDP2 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000003.12:g.141959786T>C, NC_000003.11:g.141678628T>C, NM_006286.5:c.759A>G, NM_006286.4:c.759A>G, XM_011513107.3:c.942A>G, XM_011513107.2:c.942A>G, XM_011513107.1:c.942A>G, XM_017007100.3:c.939A>G, XM_017007100.2:c.939A>G, XM_017007100.1:c.939A>G, XM_017007091.2:c.939A>G, XM_017007091.1:c.939A>G, NM_001178138.2:c.759A>G, NM_001178138.1:c.759A>G, NM_001178139.2:c.939A>G, NM_001178139.1:c.939A>G, NM_001178140.2:c.855A>G, NM_001178140.1:c.855A>G, NM_001178141.2:c.648A>G, NM_001178141.1:c.648A>G, NM_001178142.2:c.531A>G, NM_001178142.1:c.531A>G, NM_001375776.1:c.759A>G, NM_001375775.1:c.873A>G, XM_047448775.1:c.942A>G, NM_001375778.1:c.756A>G, NM_001375773.1:c.942A>G, XM_047448777.1:c.876A>G, XM_047448780.1:c.873A>G, NM_001375780.1:c.600A>G, XM_047448779.1:c.876A>G, XM_047448781.1:c.759A>G, XM_047448782.1:c.756A>G, XM_047448776.1:c.891A>G, NM_001375774.1:c.888A>G, XM_047448784.1:c.603A>G, XM_047448785.1:c.600A>G, NM_001375756.1:c.756A>G, NM_001375779.1:c.600A>G, XM_047448783.1:c.939A>G

                  9.

                  rs1461395341 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    3:142005489 (GRCh38)
                    3:141724331 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:142005488:A:G
                    Gene:
                    TFDP2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,intron_variant,genic_upstream_transcript_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_000003.12:g.142005489A>G, NC_000003.11:g.141724331A>G, NM_006286.5:c.-46T>C, NM_006286.4:c.-46T>C, XM_011513107.3:c.138T>C, XM_011513107.2:c.138T>C, XM_011513107.1:c.138T>C, XM_017007100.3:c.138T>C, XM_017007100.2:c.138T>C, XM_017007100.1:c.138T>C, XM_017007091.2:c.138T>C, XM_017007091.1:c.138T>C, NM_001178138.2:c.-46T>C, NM_001178138.1:c.-46T>C, NM_001178139.2:c.138T>C, NM_001178139.1:c.138T>C, NM_001178141.2:c.-32T>C, NM_001178141.1:c.-32T>C, NM_001375776.1:c.-46T>C, NM_001375775.1:c.-32T>C, XM_047448775.1:c.138T>C, NM_001375778.1:c.-46T>C, NM_001375773.1:c.138T>C, XM_047448777.1:c.-32T>C, XM_047448780.1:c.-32T>C, NM_001375780.1:c.-32T>C, XM_047448779.1:c.-32T>C, XM_047448781.1:c.-46T>C, XM_047448782.1:c.-46T>C, XM_047448776.1:c.87T>C, NM_001375774.1:c.87T>C, XM_047448784.1:c.-32T>C, XM_047448785.1:c.-32T>C, NM_001375756.1:c.-46T>C, NM_001375779.1:c.-32T>C, XM_047448783.1:c.138T>C

                    10.

                    rs1457208552 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      3:141963942 (GRCh38)
                      3:141682784 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:141963941:C:T
                      Gene:
                      TFDP2 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000019/5 (TOPMED)
                      T=0.000021/3 (GnomAD)
                      HGVS:
                      NC_000003.12:g.141963942C>T, NC_000003.11:g.141682784C>T, NM_006286.5:c.574G>A, NM_006286.4:c.574G>A, XM_011513107.3:c.757G>A, XM_011513107.2:c.757G>A, XM_011513107.1:c.757G>A, XM_017007100.3:c.754G>A, XM_017007100.2:c.754G>A, XM_017007100.1:c.754G>A, XM_017007091.2:c.754G>A, XM_017007091.1:c.754G>A, NM_001178138.2:c.574G>A, NM_001178138.1:c.574G>A, NM_001178139.2:c.754G>A, NM_001178139.1:c.754G>A, NM_001178140.2:c.670G>A, NM_001178140.1:c.670G>A, NM_001178141.2:c.463G>A, NM_001178141.1:c.463G>A, NM_001178142.2:c.346G>A, NM_001178142.1:c.346G>A, NM_001375776.1:c.574G>A, NM_001375775.1:c.688G>A, XM_047448775.1:c.757G>A, NM_001375778.1:c.571G>A, NM_001375773.1:c.757G>A, XM_047448777.1:c.691G>A, XM_047448780.1:c.688G>A, NM_001375780.1:c.415G>A, XM_047448779.1:c.691G>A, XM_047448781.1:c.574G>A, XM_047448782.1:c.571G>A, XM_047448776.1:c.706G>A, NM_001375774.1:c.703G>A, XM_047448784.1:c.418G>A, XM_047448785.1:c.415G>A, NM_001375756.1:c.571G>A, NM_001375779.1:c.415G>A, XM_047448783.1:c.754G>A, NP_006277.1:p.Val192Ile, XP_011511409.1:p.Val253Ile, XP_016862589.1:p.Val252Ile, XP_016862580.1:p.Val252Ile, NP_001171609.1:p.Val192Ile, NP_001171610.1:p.Val252Ile, NP_001171611.1:p.Val224Ile, NP_001171612.1:p.Val155Ile, NP_001171613.1:p.Val116Ile, NP_001362705.1:p.Val192Ile, NP_001362704.1:p.Val230Ile, XP_047304731.1:p.Val253Ile, NP_001362707.1:p.Val191Ile, NP_001362702.1:p.Val253Ile, XP_047304733.1:p.Val231Ile, XP_047304736.1:p.Val230Ile, NP_001362709.1:p.Val139Ile, XP_047304735.1:p.Val231Ile, XP_047304737.1:p.Val192Ile, XP_047304738.1:p.Val191Ile, XP_047304732.1:p.Val236Ile, NP_001362703.1:p.Val235Ile, XP_047304740.1:p.Val140Ile, XP_047304741.1:p.Val139Ile, NP_001362685.1:p.Val191Ile, NP_001362708.1:p.Val139Ile, XP_047304739.1:p.Val252Ile

                      11.

                      rs1454859029 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        3:141963888 (GRCh38)
                        3:141682730 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:141963887:A:C
                        Gene:
                        TFDP2 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000003.12:g.141963888A>C, NC_000003.11:g.141682730A>C, NM_006286.5:c.628T>G, NM_006286.4:c.628T>G, XM_011513107.3:c.811T>G, XM_011513107.2:c.811T>G, XM_011513107.1:c.811T>G, XM_017007100.3:c.808T>G, XM_017007100.2:c.808T>G, XM_017007100.1:c.808T>G, XM_017007091.2:c.808T>G, XM_017007091.1:c.808T>G, NM_001178138.2:c.628T>G, NM_001178138.1:c.628T>G, NM_001178139.2:c.808T>G, NM_001178139.1:c.808T>G, NM_001178140.2:c.724T>G, NM_001178140.1:c.724T>G, NM_001178141.2:c.517T>G, NM_001178141.1:c.517T>G, NM_001178142.2:c.400T>G, NM_001178142.1:c.400T>G, NM_001375776.1:c.628T>G, NM_001375775.1:c.742T>G, XM_047448775.1:c.811T>G, NM_001375778.1:c.625T>G, NM_001375773.1:c.811T>G, XM_047448777.1:c.745T>G, XM_047448780.1:c.742T>G, NM_001375780.1:c.469T>G, XM_047448779.1:c.745T>G, XM_047448781.1:c.628T>G, XM_047448782.1:c.625T>G, XM_047448776.1:c.760T>G, NM_001375774.1:c.757T>G, XM_047448784.1:c.472T>G, XM_047448785.1:c.469T>G, NM_001375756.1:c.625T>G, NM_001375779.1:c.469T>G, XM_047448783.1:c.808T>G, NP_006277.1:p.Ser210Ala, XP_011511409.1:p.Ser271Ala, XP_016862589.1:p.Ser270Ala, XP_016862580.1:p.Ser270Ala, NP_001171609.1:p.Ser210Ala, NP_001171610.1:p.Ser270Ala, NP_001171611.1:p.Ser242Ala, NP_001171612.1:p.Ser173Ala, NP_001171613.1:p.Ser134Ala, NP_001362705.1:p.Ser210Ala, NP_001362704.1:p.Ser248Ala, XP_047304731.1:p.Ser271Ala, NP_001362707.1:p.Ser209Ala, NP_001362702.1:p.Ser271Ala, XP_047304733.1:p.Ser249Ala, XP_047304736.1:p.Ser248Ala, NP_001362709.1:p.Ser157Ala, XP_047304735.1:p.Ser249Ala, XP_047304737.1:p.Ser210Ala, XP_047304738.1:p.Ser209Ala, XP_047304732.1:p.Ser254Ala, NP_001362703.1:p.Ser253Ala, XP_047304740.1:p.Ser158Ala, XP_047304741.1:p.Ser157Ala, NP_001362685.1:p.Ser209Ala, NP_001362708.1:p.Ser157Ala, XP_047304739.1:p.Ser270Ala

                        12.

                        rs1453110301 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          3:141959705 (GRCh38)
                          3:141678547 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:141959704:C:A
                          Gene:
                          TFDP2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000011/3 (TOPMED)
                          HGVS:
                          NC_000003.12:g.141959705C>A, NC_000003.11:g.141678547C>A, NM_006286.5:c.840G>T, NM_006286.4:c.840G>T, XM_011513107.3:c.1023G>T, XM_011513107.2:c.1023G>T, XM_011513107.1:c.1023G>T, XM_017007100.3:c.1020G>T, XM_017007100.2:c.1020G>T, XM_017007100.1:c.1020G>T, XM_017007091.2:c.1020G>T, XM_017007091.1:c.1020G>T, NM_001178138.2:c.840G>T, NM_001178138.1:c.840G>T, NM_001178139.2:c.1020G>T, NM_001178139.1:c.1020G>T, NM_001178140.2:c.936G>T, NM_001178140.1:c.936G>T, NM_001178141.2:c.729G>T, NM_001178141.1:c.729G>T, NM_001178142.2:c.612G>T, NM_001178142.1:c.612G>T, NM_001375776.1:c.840G>T, NM_001375775.1:c.954G>T, XM_047448775.1:c.1023G>T, NM_001375778.1:c.837G>T, NM_001375773.1:c.1023G>T, XM_047448777.1:c.957G>T, XM_047448780.1:c.954G>T, NM_001375780.1:c.681G>T, XM_047448779.1:c.957G>T, XM_047448781.1:c.840G>T, XM_047448782.1:c.837G>T, XM_047448776.1:c.972G>T, NM_001375774.1:c.969G>T, XM_047448784.1:c.684G>T, XM_047448785.1:c.681G>T, NM_001375756.1:c.837G>T, NM_001375779.1:c.681G>T, XM_047448783.1:c.1020G>T

                          13.

                          rs1449821612 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            3:141952686 (GRCh38)
                            3:141671528 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:141952685:C:A,NC_000003.12:141952685:C:T
                            Gene:
                            TFDP2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            T=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000003.12:g.141952686C>A, NC_000003.12:g.141952686C>T, NC_000003.11:g.141671528C>A, NC_000003.11:g.141671528C>T, NM_006286.5:c.988G>T, NM_006286.5:c.988G>A, NM_006286.4:c.988G>T, NM_006286.4:c.988G>A, XM_017007091.2:c.1168G>T, XM_017007091.2:c.1168G>A, XM_017007091.1:c.1168G>T, XM_017007091.1:c.1168G>A, NM_001178138.2:c.988G>T, NM_001178138.2:c.988G>A, NM_001178138.1:c.988G>T, NM_001178138.1:c.988G>A, NM_001178139.2:c.1168G>T, NM_001178139.2:c.1168G>A, NM_001178139.1:c.1168G>T, NM_001178139.1:c.1168G>A, NM_001178140.2:c.1084G>T, NM_001178140.2:c.1084G>A, NM_001178140.1:c.1084G>T, NM_001178140.1:c.1084G>A, NM_001178141.2:c.877G>T, NM_001178141.2:c.877G>A, NM_001178141.1:c.877G>T, NM_001178141.1:c.877G>A, NM_001178142.2:c.760G>T, NM_001178142.2:c.760G>A, NM_001178142.1:c.760G>T, NM_001178142.1:c.760G>A, NM_001375776.1:c.988G>T, NM_001375776.1:c.988G>A, NM_001375775.1:c.1102G>T, NM_001375775.1:c.1102G>A, XM_047448775.1:c.1171G>T, XM_047448775.1:c.1171G>A, NM_001375778.1:c.985G>T, NM_001375778.1:c.985G>A, NM_001375773.1:c.1171G>T, NM_001375773.1:c.1171G>A, XM_047448777.1:c.1105G>T, XM_047448777.1:c.1105G>A, XM_047448780.1:c.1102G>T, XM_047448780.1:c.1102G>A, NM_001375780.1:c.829G>T, NM_001375780.1:c.829G>A, XM_047448779.1:c.1105G>T, XM_047448779.1:c.1105G>A, XM_047448781.1:c.988G>T, XM_047448781.1:c.988G>A, XM_047448782.1:c.985G>T, XM_047448782.1:c.985G>A, XM_047448776.1:c.1120G>T, XM_047448776.1:c.1120G>A, NM_001375774.1:c.1117G>T, NM_001375774.1:c.1117G>A, XM_047448784.1:c.832G>T, XM_047448784.1:c.832G>A, XM_047448785.1:c.829G>T, XM_047448785.1:c.829G>A, NM_001375756.1:c.985G>T, NM_001375756.1:c.985G>A, NM_001375779.1:c.829G>T, NM_001375779.1:c.829G>A, NP_006277.1:p.Gly330Trp, NP_006277.1:p.Gly330Arg, XP_016862580.1:p.Gly390Trp, XP_016862580.1:p.Gly390Arg, NP_001171609.1:p.Gly330Trp, NP_001171609.1:p.Gly330Arg, NP_001171610.1:p.Gly390Trp, NP_001171610.1:p.Gly390Arg, NP_001171611.1:p.Gly362Trp, NP_001171611.1:p.Gly362Arg, NP_001171612.1:p.Gly293Trp, NP_001171612.1:p.Gly293Arg, NP_001171613.1:p.Gly254Trp, NP_001171613.1:p.Gly254Arg, NP_001362705.1:p.Gly330Trp, NP_001362705.1:p.Gly330Arg, NP_001362704.1:p.Gly368Trp, NP_001362704.1:p.Gly368Arg, XP_047304731.1:p.Gly391Trp, XP_047304731.1:p.Gly391Arg, NP_001362707.1:p.Gly329Trp, NP_001362707.1:p.Gly329Arg, NP_001362702.1:p.Gly391Trp, NP_001362702.1:p.Gly391Arg, XP_047304733.1:p.Gly369Trp, XP_047304733.1:p.Gly369Arg, XP_047304736.1:p.Gly368Trp, XP_047304736.1:p.Gly368Arg, NP_001362709.1:p.Gly277Trp, NP_001362709.1:p.Gly277Arg, XP_047304735.1:p.Gly369Trp, XP_047304735.1:p.Gly369Arg, XP_047304737.1:p.Gly330Trp, XP_047304737.1:p.Gly330Arg, XP_047304738.1:p.Gly329Trp, XP_047304738.1:p.Gly329Arg, XP_047304732.1:p.Gly374Trp, XP_047304732.1:p.Gly374Arg, NP_001362703.1:p.Gly373Trp, NP_001362703.1:p.Gly373Arg, XP_047304740.1:p.Gly278Trp, XP_047304740.1:p.Gly278Arg, XP_047304741.1:p.Gly277Trp, XP_047304741.1:p.Gly277Arg, NP_001362685.1:p.Gly329Trp, NP_001362685.1:p.Gly329Arg, NP_001362708.1:p.Gly277Trp, NP_001362708.1:p.Gly277Arg

                            14.

                            rs1443939669 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              GAAA>- [Show Flanks]
                              Chromosome:
                              3:141974118 (GRCh38)
                              3:141692960 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:141974117:GAAA:
                              Gene:
                              TFDP2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,frameshift_variant
                              HGVS:
                              NC_000003.12:g.141974118_141974121del, NC_000003.11:g.141692960_141692963del, NM_006286.5:c.410_413del, NM_006286.4:c.410_413del, XM_011513107.3:c.593_596del, XM_011513107.2:c.593_596del, XM_011513107.1:c.593_596del, XM_017007100.3:c.590_593del, XM_017007100.2:c.590_593del, XM_017007100.1:c.590_593del, XM_017007091.2:c.590_593del, XM_017007091.1:c.590_593del, NM_001178138.2:c.410_413del, NM_001178138.1:c.410_413del, NM_001178139.2:c.590_593del, NM_001178139.1:c.590_593del, NM_001178140.2:c.506_509del, NM_001178140.1:c.506_509del, NM_001178141.2:c.299_302del, NM_001178141.1:c.299_302del, NM_001178142.2:c.182_185del, NM_001178142.1:c.182_185del, NM_001375776.1:c.410_413del, NM_001375775.1:c.524_527del, XM_047448775.1:c.593_596del, NM_001375778.1:c.407_410del, NM_001375773.1:c.593_596del, XM_047448777.1:c.527_530del, XM_047448780.1:c.524_527del, NM_001375780.1:c.251_254del, XM_047448779.1:c.527_530del, XM_047448781.1:c.410_413del, XM_047448782.1:c.407_410del, XM_047448776.1:c.542_545del, NM_001375774.1:c.539_542del, XM_047448784.1:c.254_257del, XM_047448785.1:c.251_254del, NM_001375756.1:c.407_410del, NM_001375779.1:c.251_254del, XM_047448783.1:c.590_593del, NP_006277.1:p.Ile137fs, XP_011511409.1:p.Ile198fs, XP_016862589.1:p.Ile197fs, XP_016862580.1:p.Ile197fs, NP_001171609.1:p.Ile137fs, NP_001171610.1:p.Ile197fs, NP_001171611.1:p.Ile169fs, NP_001171612.1:p.Ile100fs, NP_001171613.1:p.Ile61fs, NP_001362705.1:p.Ile137fs, NP_001362704.1:p.Ile175fs, XP_047304731.1:p.Ile198fs, NP_001362707.1:p.Ile136fs, NP_001362702.1:p.Ile198fs, XP_047304733.1:p.Ile176fs, XP_047304736.1:p.Ile175fs, NP_001362709.1:p.Ile84fs, XP_047304735.1:p.Ile176fs, XP_047304737.1:p.Ile137fs, XP_047304738.1:p.Ile136fs, XP_047304732.1:p.Ile181fs, NP_001362703.1:p.Ile180fs, XP_047304740.1:p.Ile85fs, XP_047304741.1:p.Ile84fs, NP_001362685.1:p.Ile136fs, NP_001362708.1:p.Ile84fs, XP_047304739.1:p.Ile197fs

                              15.

                              rs1442548297 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                3:141959743 (GRCh38)
                                3:141678585 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:141959742:T:G
                                Gene:
                                TFDP2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000003.12:g.141959743T>G, NC_000003.11:g.141678585T>G, NM_006286.5:c.802A>C, NM_006286.4:c.802A>C, XM_011513107.3:c.985A>C, XM_011513107.2:c.985A>C, XM_011513107.1:c.985A>C, XM_017007100.3:c.982A>C, XM_017007100.2:c.982A>C, XM_017007100.1:c.982A>C, XM_017007091.2:c.982A>C, XM_017007091.1:c.982A>C, NM_001178138.2:c.802A>C, NM_001178138.1:c.802A>C, NM_001178139.2:c.982A>C, NM_001178139.1:c.982A>C, NM_001178140.2:c.898A>C, NM_001178140.1:c.898A>C, NM_001178141.2:c.691A>C, NM_001178141.1:c.691A>C, NM_001178142.2:c.574A>C, NM_001178142.1:c.574A>C, NM_001375776.1:c.802A>C, NM_001375775.1:c.916A>C, XM_047448775.1:c.985A>C, NM_001375778.1:c.799A>C, NM_001375773.1:c.985A>C, XM_047448777.1:c.919A>C, XM_047448780.1:c.916A>C, NM_001375780.1:c.643A>C, XM_047448779.1:c.919A>C, XM_047448781.1:c.802A>C, XM_047448782.1:c.799A>C, XM_047448776.1:c.934A>C, NM_001375774.1:c.931A>C, XM_047448784.1:c.646A>C, XM_047448785.1:c.643A>C, NM_001375756.1:c.799A>C, NM_001375779.1:c.643A>C, XM_047448783.1:c.982A>C, NP_006277.1:p.Lys268Gln, XP_011511409.1:p.Lys329Gln, XP_016862589.1:p.Lys328Gln, XP_016862580.1:p.Lys328Gln, NP_001171609.1:p.Lys268Gln, NP_001171610.1:p.Lys328Gln, NP_001171611.1:p.Lys300Gln, NP_001171612.1:p.Lys231Gln, NP_001171613.1:p.Lys192Gln, NP_001362705.1:p.Lys268Gln, NP_001362704.1:p.Lys306Gln, XP_047304731.1:p.Lys329Gln, NP_001362707.1:p.Lys267Gln, NP_001362702.1:p.Lys329Gln, XP_047304733.1:p.Lys307Gln, XP_047304736.1:p.Lys306Gln, NP_001362709.1:p.Lys215Gln, XP_047304735.1:p.Lys307Gln, XP_047304737.1:p.Lys268Gln, XP_047304738.1:p.Lys267Gln, XP_047304732.1:p.Lys312Gln, NP_001362703.1:p.Lys311Gln, XP_047304740.1:p.Lys216Gln, XP_047304741.1:p.Lys215Gln, NP_001362685.1:p.Lys267Gln, NP_001362708.1:p.Lys215Gln, XP_047304739.1:p.Lys328Gln

                                16.

                                rs1442155760 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  3:141952582 (GRCh38)
                                  3:141671424 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:141952581:G:A
                                  Gene:
                                  TFDP2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000003.12:g.141952582G>A, NC_000003.11:g.141671424G>A, NM_006286.5:c.1092C>T, NM_006286.4:c.1092C>T, XM_017007091.2:c.1272C>T, XM_017007091.1:c.1272C>T, NM_001178138.2:c.1092C>T, NM_001178138.1:c.1092C>T, NM_001178139.2:c.1272C>T, NM_001178139.1:c.1272C>T, NM_001178140.2:c.1188C>T, NM_001178140.1:c.1188C>T, NM_001178141.2:c.981C>T, NM_001178141.1:c.981C>T, NM_001178142.2:c.864C>T, NM_001178142.1:c.864C>T, NM_001375776.1:c.1092C>T, NM_001375775.1:c.1206C>T, XM_047448775.1:c.1275C>T, NM_001375778.1:c.1089C>T, NM_001375773.1:c.1275C>T, XM_047448777.1:c.1209C>T, XM_047448780.1:c.1206C>T, NM_001375780.1:c.933C>T, XM_047448779.1:c.1209C>T, XM_047448781.1:c.1092C>T, XM_047448782.1:c.1089C>T, XM_047448776.1:c.1224C>T, NM_001375774.1:c.1221C>T, XM_047448784.1:c.936C>T, XM_047448785.1:c.933C>T, NM_001375756.1:c.1089C>T, NM_001375779.1:c.933C>T

                                  17.

                                  rs1441751325 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,C [Show Flanks]
                                    Chromosome:
                                    3:141952562 (GRCh38)
                                    3:141671404 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:141952561:T:A,NC_000003.12:141952561:T:C
                                    Gene:
                                    TFDP2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,intron_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    HGVS:
                                    NC_000003.12:g.141952562T>A, NC_000003.12:g.141952562T>C, NC_000003.11:g.141671404T>A, NC_000003.11:g.141671404T>C, NM_006286.5:c.1112A>T, NM_006286.5:c.1112A>G, NM_006286.4:c.1112A>T, NM_006286.4:c.1112A>G, XM_017007091.2:c.1292A>T, XM_017007091.2:c.1292A>G, XM_017007091.1:c.1292A>T, XM_017007091.1:c.1292A>G, NM_001178138.2:c.1112A>T, NM_001178138.2:c.1112A>G, NM_001178138.1:c.1112A>T, NM_001178138.1:c.1112A>G, NM_001178139.2:c.1292A>T, NM_001178139.2:c.1292A>G, NM_001178139.1:c.1292A>T, NM_001178139.1:c.1292A>G, NM_001178140.2:c.1208A>T, NM_001178140.2:c.1208A>G, NM_001178140.1:c.1208A>T, NM_001178140.1:c.1208A>G, NM_001178141.2:c.1001A>T, NM_001178141.2:c.1001A>G, NM_001178141.1:c.1001A>T, NM_001178141.1:c.1001A>G, NM_001178142.2:c.884A>T, NM_001178142.2:c.884A>G, NM_001178142.1:c.884A>T, NM_001178142.1:c.884A>G, NM_001375776.1:c.1112A>T, NM_001375776.1:c.1112A>G, NM_001375775.1:c.1226A>T, NM_001375775.1:c.1226A>G, XM_047448775.1:c.1295A>T, XM_047448775.1:c.1295A>G, NM_001375778.1:c.1109A>T, NM_001375778.1:c.1109A>G, NM_001375773.1:c.1295A>T, NM_001375773.1:c.1295A>G, XM_047448777.1:c.1229A>T, XM_047448777.1:c.1229A>G, XM_047448780.1:c.1226A>T, XM_047448780.1:c.1226A>G, NM_001375780.1:c.953A>T, NM_001375780.1:c.953A>G, XM_047448779.1:c.1229A>T, XM_047448779.1:c.1229A>G, XM_047448781.1:c.1112A>T, XM_047448781.1:c.1112A>G, XM_047448782.1:c.1109A>T, XM_047448782.1:c.1109A>G, XM_047448776.1:c.1244A>T, XM_047448776.1:c.1244A>G, NM_001375774.1:c.1241A>T, NM_001375774.1:c.1241A>G, XM_047448784.1:c.956A>T, XM_047448784.1:c.956A>G, XM_047448785.1:c.953A>T, XM_047448785.1:c.953A>G, NM_001375756.1:c.1109A>T, NM_001375756.1:c.1109A>G, NM_001375779.1:c.953A>T, NM_001375779.1:c.953A>G, NP_006277.1:p.Asn371Ile, NP_006277.1:p.Asn371Ser, XP_016862580.1:p.Asn431Ile, XP_016862580.1:p.Asn431Ser, NP_001171609.1:p.Asn371Ile, NP_001171609.1:p.Asn371Ser, NP_001171610.1:p.Asn431Ile, NP_001171610.1:p.Asn431Ser, NP_001171611.1:p.Asn403Ile, NP_001171611.1:p.Asn403Ser, NP_001171612.1:p.Asn334Ile, NP_001171612.1:p.Asn334Ser, NP_001171613.1:p.Asn295Ile, NP_001171613.1:p.Asn295Ser, NP_001362705.1:p.Asn371Ile, NP_001362705.1:p.Asn371Ser, NP_001362704.1:p.Asn409Ile, NP_001362704.1:p.Asn409Ser, XP_047304731.1:p.Asn432Ile, XP_047304731.1:p.Asn432Ser, NP_001362707.1:p.Asn370Ile, NP_001362707.1:p.Asn370Ser, NP_001362702.1:p.Asn432Ile, NP_001362702.1:p.Asn432Ser, XP_047304733.1:p.Asn410Ile, XP_047304733.1:p.Asn410Ser, XP_047304736.1:p.Asn409Ile, XP_047304736.1:p.Asn409Ser, NP_001362709.1:p.Asn318Ile, NP_001362709.1:p.Asn318Ser, XP_047304735.1:p.Asn410Ile, XP_047304735.1:p.Asn410Ser, XP_047304737.1:p.Asn371Ile, XP_047304737.1:p.Asn371Ser, XP_047304738.1:p.Asn370Ile, XP_047304738.1:p.Asn370Ser, XP_047304732.1:p.Asn415Ile, XP_047304732.1:p.Asn415Ser, NP_001362703.1:p.Asn414Ile, NP_001362703.1:p.Asn414Ser, XP_047304740.1:p.Asn319Ile, XP_047304740.1:p.Asn319Ser, XP_047304741.1:p.Asn318Ile, XP_047304741.1:p.Asn318Ser, NP_001362685.1:p.Asn370Ile, NP_001362685.1:p.Asn370Ser, NP_001362708.1:p.Asn318Ile, NP_001362708.1:p.Asn318Ser

                                    18.

                                    rs1439023123 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      GAG>- [Show Flanks]
                                      Chromosome:
                                      3:141970079 (GRCh38)
                                      3:141688921 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:141970076:AGGAG:AG
                                      Gene:
                                      TFDP2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,inframe_deletion
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AG=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      -=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000003.12:g.141970079_141970081del, NC_000003.11:g.141688921_141688923del, NM_006286.5:c.546_548del, NM_006286.4:c.546_548del, XM_011513107.3:c.729_731del, XM_011513107.2:c.729_731del, XM_011513107.1:c.729_731del, XM_017007100.3:c.726_728del, XM_017007100.2:c.726_728del, XM_017007100.1:c.726_728del, XM_017007091.2:c.726_728del, XM_017007091.1:c.726_728del, NM_001178138.2:c.546_548del, NM_001178138.1:c.546_548del, NM_001178139.2:c.726_728del, NM_001178139.1:c.726_728del, NM_001178140.2:c.642_644del, NM_001178140.1:c.642_644del, NM_001178141.2:c.435_437del, NM_001178141.1:c.435_437del, NM_001178142.2:c.318_320del, NM_001178142.1:c.318_320del, NM_001375776.1:c.546_548del, NM_001375775.1:c.660_662del, XM_047448775.1:c.729_731del, NM_001375778.1:c.543_545del, NM_001375773.1:c.729_731del, XM_047448777.1:c.663_665del, XM_047448780.1:c.660_662del, NM_001375780.1:c.387_389del, XM_047448779.1:c.663_665del, XM_047448781.1:c.546_548del, XM_047448782.1:c.543_545del, XM_047448776.1:c.678_680del, NM_001375774.1:c.675_677del, XM_047448784.1:c.390_392del, XM_047448785.1:c.387_389del, NM_001375756.1:c.543_545del, NM_001375779.1:c.387_389del, XM_047448783.1:c.726_728del, NP_006277.1:p.Leu183del, XP_011511409.1:p.Leu244del, XP_016862589.1:p.Leu243del, XP_016862580.1:p.Leu243del, NP_001171609.1:p.Leu183del, NP_001171610.1:p.Leu243del, NP_001171611.1:p.Leu215del, NP_001171612.1:p.Leu146del, NP_001171613.1:p.Leu107del, NP_001362705.1:p.Leu183del, NP_001362704.1:p.Leu221del, XP_047304731.1:p.Leu244del, NP_001362707.1:p.Leu182del, NP_001362702.1:p.Leu244del, XP_047304733.1:p.Leu222del, XP_047304736.1:p.Leu221del, NP_001362709.1:p.Leu130del, XP_047304735.1:p.Leu222del, XP_047304737.1:p.Leu183del, XP_047304738.1:p.Leu182del, XP_047304732.1:p.Leu227del, NP_001362703.1:p.Leu226del, XP_047304740.1:p.Leu131del, XP_047304741.1:p.Leu130del, NP_001362685.1:p.Leu182del, NP_001362708.1:p.Leu130del, XP_047304739.1:p.Leu243del

                                      19.

                                      rs1438215571 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        3:141959774 (GRCh38)
                                        3:141678616 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:141959773:C:A,NC_000003.12:141959773:C:T
                                        Gene:
                                        TFDP2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000003.12:g.141959774C>A, NC_000003.12:g.141959774C>T, NC_000003.11:g.141678616C>A, NC_000003.11:g.141678616C>T, NM_006286.5:c.771G>T, NM_006286.5:c.771G>A, NM_006286.4:c.771G>T, NM_006286.4:c.771G>A, XM_011513107.3:c.954G>T, XM_011513107.3:c.954G>A, XM_011513107.2:c.954G>T, XM_011513107.2:c.954G>A, XM_011513107.1:c.954G>T, XM_011513107.1:c.954G>A, XM_017007100.3:c.951G>T, XM_017007100.3:c.951G>A, XM_017007100.2:c.951G>T, XM_017007100.2:c.951G>A, XM_017007100.1:c.951G>T, XM_017007100.1:c.951G>A, XM_017007091.2:c.951G>T, XM_017007091.2:c.951G>A, XM_017007091.1:c.951G>T, XM_017007091.1:c.951G>A, NM_001178138.2:c.771G>T, NM_001178138.2:c.771G>A, NM_001178138.1:c.771G>T, NM_001178138.1:c.771G>A, NM_001178139.2:c.951G>T, NM_001178139.2:c.951G>A, NM_001178139.1:c.951G>T, NM_001178139.1:c.951G>A, NM_001178140.2:c.867G>T, NM_001178140.2:c.867G>A, NM_001178140.1:c.867G>T, NM_001178140.1:c.867G>A, NM_001178141.2:c.660G>T, NM_001178141.2:c.660G>A, NM_001178141.1:c.660G>T, NM_001178141.1:c.660G>A, NM_001178142.2:c.543G>T, NM_001178142.2:c.543G>A, NM_001178142.1:c.543G>T, NM_001178142.1:c.543G>A, NM_001375776.1:c.771G>T, NM_001375776.1:c.771G>A, NM_001375775.1:c.885G>T, NM_001375775.1:c.885G>A, XM_047448775.1:c.954G>T, XM_047448775.1:c.954G>A, NM_001375778.1:c.768G>T, NM_001375778.1:c.768G>A, NM_001375773.1:c.954G>T, NM_001375773.1:c.954G>A, XM_047448777.1:c.888G>T, XM_047448777.1:c.888G>A, XM_047448780.1:c.885G>T, XM_047448780.1:c.885G>A, NM_001375780.1:c.612G>T, NM_001375780.1:c.612G>A, XM_047448779.1:c.888G>T, XM_047448779.1:c.888G>A, XM_047448781.1:c.771G>T, XM_047448781.1:c.771G>A, XM_047448782.1:c.768G>T, XM_047448782.1:c.768G>A, XM_047448776.1:c.903G>T, XM_047448776.1:c.903G>A, NM_001375774.1:c.900G>T, NM_001375774.1:c.900G>A, XM_047448784.1:c.615G>T, XM_047448784.1:c.615G>A, XM_047448785.1:c.612G>T, XM_047448785.1:c.612G>A, NM_001375756.1:c.768G>T, NM_001375756.1:c.768G>A, NM_001375779.1:c.612G>T, NM_001375779.1:c.612G>A, XM_047448783.1:c.951G>T, XM_047448783.1:c.951G>A

                                        20.

                                        rs1437410659 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          3:141953013 (GRCh38)
                                          3:141671855 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:141953012:A:C
                                          Gene:
                                          TFDP2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,intron_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000003.12:g.141953013A>C, NC_000003.11:g.141671855A>C, NM_006286.5:c.875T>G, NM_006286.4:c.875T>G, XM_017007091.2:c.1055T>G, XM_017007091.1:c.1055T>G, NM_001178138.2:c.875T>G, NM_001178138.1:c.875T>G, NM_001178139.2:c.1055T>G, NM_001178139.1:c.1055T>G, NM_001178140.2:c.971T>G, NM_001178140.1:c.971T>G, NM_001178141.2:c.764T>G, NM_001178141.1:c.764T>G, NM_001178142.2:c.647T>G, NM_001178142.1:c.647T>G, NM_001375776.1:c.875T>G, NM_001375775.1:c.989T>G, XM_047448775.1:c.1058T>G, NM_001375778.1:c.872T>G, NM_001375773.1:c.1058T>G, XM_047448777.1:c.992T>G, XM_047448780.1:c.989T>G, NM_001375780.1:c.716T>G, XM_047448779.1:c.992T>G, XM_047448781.1:c.875T>G, XM_047448782.1:c.872T>G, XM_047448776.1:c.1007T>G, NM_001375774.1:c.1004T>G, XM_047448784.1:c.719T>G, XM_047448785.1:c.716T>G, NM_001375756.1:c.872T>G, NM_001375779.1:c.716T>G, NP_006277.1:p.Ile292Ser, XP_016862580.1:p.Ile352Ser, NP_001171609.1:p.Ile292Ser, NP_001171610.1:p.Ile352Ser, NP_001171611.1:p.Ile324Ser, NP_001171612.1:p.Ile255Ser, NP_001171613.1:p.Ile216Ser, NP_001362705.1:p.Ile292Ser, NP_001362704.1:p.Ile330Ser, XP_047304731.1:p.Ile353Ser, NP_001362707.1:p.Ile291Ser, NP_001362702.1:p.Ile353Ser, XP_047304733.1:p.Ile331Ser, XP_047304736.1:p.Ile330Ser, NP_001362709.1:p.Ile239Ser, XP_047304735.1:p.Ile331Ser, XP_047304737.1:p.Ile292Ser, XP_047304738.1:p.Ile291Ser, XP_047304732.1:p.Ile336Ser, NP_001362703.1:p.Ile335Ser, XP_047304740.1:p.Ile240Ser, XP_047304741.1:p.Ile239Ser, NP_001362685.1:p.Ile291Ser, NP_001362708.1:p.Ile239Ser

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