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Items: 1 to 20 of 763

1.

rs781743659 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TCGT>- [Show Flanks]
    Chromosome:
    16:15006486 (GRCh38)
    16:15100343 (GRCh37)
    Canonical SPDI:
    NC_000016.10:15006484:TTCGT:T
    Gene:
    PDXDC1 (Varview)
    Functional Consequence:
    coding_sequence_variant,stop_gained
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    -=0.000008/1 (ExAC)
    -=0.000011/3 (TOPMED)
    HGVS:
    NC_000016.10:g.15006486_15006489del, NC_000016.9:g.15100343_15100346del, NT_187607.1:g.845839_845842del, NM_015027.4:c.482_485del, NM_015027.3:c.482_485del, NM_015027.2:c.482_485del, XM_005255176.3:c.437_440del, XM_005255176.1:c.437_440del, NM_001324019.2:c.479_482del, NM_001324019.1:c.479_482del, NM_001285444.2:c.401_404del, NM_001285444.1:c.401_404del, NM_001285445.2:c.398_401del, NM_001285445.1:c.398_401del, XM_017023061.2:c.437_440del, XM_006720865.2:c.356_359del, NM_001285450.2:c.482_485del, NM_001285450.1:c.482_485del, NM_001285449.2:c.482_485del, NM_001285449.1:c.482_485del, NM_001324020.2:c.479_482del, NM_001324020.1:c.479_482del, NM_001324021.2:c.401_404del, NM_001324021.1:c.401_404del, XM_017023065.1:c.437_440del, NM_001285448.1:c.209_212del, NM_001285447.1:c.437_440del, XM_017023064.1:c.356_359del, XM_024450196.1:c.509_512del, XM_024450195.1:c.536_539del, XM_024450197.1:c.356_359del, XM_024450194.1:c.437_440del, XM_017023060.1:c.509_512del, XM_017023063.1:c.437_440del, XM_017023062.1:c.437_440del, XM_017023059.1:c.437_440del, NP_055842.2:p.Asp160_Phe161insTer, XP_005255233.1:p.Asp145_Phe146insTer, NP_001310948.1:p.Asp159_Phe160insTer, NP_001272373.1:p.Asp133_Phe134insTer, NP_001272374.1:p.Asp132_Phe133insTer, XP_016878550.1:p.Asp145_Phe146insTer, XP_006720928.2:p.Asp118_Phe119insTer, NP_001272379.1:p.Asp160_Phe161insTer, NP_001272378.1:p.Asp160_Phe161insTer, NP_001310949.1:p.Asp159_Phe160insTer, NP_001310950.1:p.Asp133_Phe134insTer, XP_016878554.1:p.Asp145_Phe146insTer, NP_001272377.1:p.Asp69_Phe70insTer, NP_001272376.1:p.Asp145_Phe146insTer, XP_016878553.1:p.Asp118_Phe119insTer, XP_024305964.1:p.Asp169_Phe170insTer, XP_024305963.1:p.Asp178_Phe179insTer, XP_024305965.1:p.Asp118_Phe119insTer, XP_024305962.1:p.Asp145_Phe146insTer, XP_016878549.1:p.Asp169_Phe170insTer, XP_016878552.1:p.Asp145_Phe146insTer, XP_016878551.1:p.Asp145_Phe146insTer, XP_016878548.1:p.Asp145_Phe146insTer
    2.

    rs781693945 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      16:15037993 (GRCh38)
      16:15131850 (GRCh37)
      Canonical SPDI:
      NC_000016.10:15037992:C:T
      Gene:
      PDXDC1 (Varview), NTAN1 (Varview)
      Functional Consequence:
      3_prime_UTR_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000011/3 (TOPMED)
      T=0.000013/3 (GnomAD_exomes)
      T=0.000017/2 (ExAC)
      HGVS:
      3.

      rs781543883 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        16:15017140 (GRCh38)
        16:15110997 (GRCh37)
        Canonical SPDI:
        NC_000016.10:15017139:C:T
        Gene:
        PDXDC1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by cluster
        MAF:
        T=0.000008/2 (GnomAD_exomes)
        T=0.000016/2 (ExAC)
        HGVS:
        NC_000016.10:g.15017140C>T, NC_000016.9:g.15110997C>T, NT_187607.1:g.856484C>T, NM_015027.4:c.833C>T, NM_015027.3:c.833C>T, NM_015027.2:c.833C>T, XM_005255176.3:c.788C>T, XM_005255176.1:c.788C>T, NM_001324019.2:c.830C>T, NM_001324019.1:c.830C>T, NM_001285444.2:c.752C>T, NM_001285444.1:c.752C>T, NM_001285445.2:c.749C>T, NM_001285445.1:c.749C>T, XM_017023061.2:c.788C>T, XM_006720865.2:c.707C>T, NM_001285450.2:c.764C>T, NM_001285450.1:c.764C>T, NM_001285449.2:c.833C>T, NM_001285449.1:c.833C>T, NM_001324020.2:c.830C>T, NM_001324020.1:c.830C>T, NM_001324021.2:c.752C>T, NM_001324021.1:c.752C>T, XM_017023065.1:c.788C>T, NM_001285448.1:c.560C>T, NM_001285447.1:c.788C>T, XM_017023064.1:c.707C>T, XM_024450196.1:c.860C>T, XM_024450195.1:c.887C>T, XM_024450197.1:c.707C>T, XM_024450194.1:c.788C>T, XM_017023060.1:c.860C>T, XM_017023063.1:c.788C>T, XM_017023062.1:c.788C>T, XM_017023059.1:c.788C>T, NP_055842.2:p.Ala278Val, XP_005255233.1:p.Ala263Val, NP_001310948.1:p.Ala277Val, NP_001272373.1:p.Ala251Val, NP_001272374.1:p.Ala250Val, XP_016878550.1:p.Ala263Val, XP_006720928.2:p.Ala236Val, NP_001272379.1:p.Ala255Val, NP_001272378.1:p.Ala278Val, NP_001310949.1:p.Ala277Val, NP_001310950.1:p.Ala251Val, XP_016878554.1:p.Ala263Val, NP_001272377.1:p.Ala187Val, NP_001272376.1:p.Ala263Val, XP_016878553.1:p.Ala236Val, XP_024305964.1:p.Ala287Val, XP_024305963.1:p.Ala296Val, XP_024305965.1:p.Ala236Val, XP_024305962.1:p.Ala263Val, XP_016878549.1:p.Ala287Val, XP_016878552.1:p.Ala263Val, XP_016878551.1:p.Ala263Val, XP_016878548.1:p.Ala263Val
        4.

        rs781471509 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          16:15037161 (GRCh38)
          16:15131018 (GRCh37)
          Canonical SPDI:
          NC_000016.10:15037160:G:A,NC_000016.10:15037160:G:T
          Gene:
          PDXDC1 (Varview)
          Functional Consequence:
          3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0./0 (TWINSUK)
          T=0.00006/1 (TOMMO)
          T=0.00026/1 (ALSPAC)
          A=0.00463/1 (Qatari)
          HGVS:
          NC_000016.10:g.15037161G>A, NC_000016.10:g.15037161G>T, NC_000016.9:g.15131018G>A, NC_000016.9:g.15131018G>T, NT_187607.1:g.632526C>T, NT_187607.1:g.632526C>A, NM_015027.4:c.*886G>A, NM_015027.4:c.*886G>T, NM_015027.3:c.*886G>A, NM_015027.3:c.*886G>T, NM_015027.2:c.*886G>A, NM_015027.2:c.*886G>T, XM_005255176.3:c.*886G>A, XM_005255176.3:c.*886G>T, XM_005255176.1:c.*886G>A, XM_005255176.1:c.*886G>T, NM_001324019.2:c.*886G>A, NM_001324019.2:c.*886G>T, NM_001324019.1:c.*886G>A, NM_001324019.1:c.*886G>T, NM_001285444.2:c.*886G>A, NM_001285444.2:c.*886G>T, NM_001285444.1:c.*886G>A, NM_001285444.1:c.*886G>T, NM_001285445.2:c.*886G>A, NM_001285445.2:c.*886G>T, NM_001285445.1:c.*886G>A, NM_001285445.1:c.*886G>T, XM_017023061.2:c.*886G>A, XM_017023061.2:c.*886G>T, XM_006720865.2:c.*886G>A, XM_006720865.2:c.*886G>T, NM_001285448.1:c.*886G>A, NM_001285448.1:c.*886G>T, NM_001285447.1:c.*886G>A, NM_001285447.1:c.*886G>T, XM_017023060.1:c.*886G>A, XM_017023060.1:c.*886G>T, XM_017023063.1:c.*1146G>A, XM_017023063.1:c.*1146G>T, XM_017023062.1:c.*886G>A, XM_017023062.1:c.*886G>T, XM_017023059.1:c.*886G>A, XM_017023059.1:c.*886G>T, XM_017023064.1:c.*886G>A, XM_017023064.1:c.*886G>T
          5.

          rs781446186 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            16:15035524 (GRCh38)
            16:15129381 (GRCh37)
            Canonical SPDI:
            NC_000016.10:15035523:C:A,NC_000016.10:15035523:C:T
            Gene:
            PDXDC1 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant,missense_variant,stop_gained,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000049/1 (ALFA)
            A=0.00002/2 (ExAC)
            A=0.000029/4 (GnomAD)
            HGVS:
            NC_000016.10:g.15035524C>A, NC_000016.10:g.15035524C>T, NC_000016.9:g.15129381C>A, NC_000016.9:g.15129381C>T, NT_187607.1:g.634165G>T, NT_187607.1:g.634165G>A, NM_015027.4:c.2078C>A, NM_015027.4:c.2078C>T, NM_015027.3:c.2078C>A, NM_015027.3:c.2078C>T, NM_015027.2:c.2078C>A, NM_015027.2:c.2078C>T, XM_005255176.3:c.2033C>A, XM_005255176.3:c.2033C>T, XM_005255176.1:c.2033C>A, XM_005255176.1:c.2033C>T, NM_001324019.2:c.2075C>A, NM_001324019.2:c.2075C>T, NM_001324019.1:c.2075C>A, NM_001324019.1:c.2075C>T, NM_001285444.2:c.1997C>A, NM_001285444.2:c.1997C>T, NM_001285444.1:c.1997C>A, NM_001285444.1:c.1997C>T, NM_001285445.2:c.1994C>A, NM_001285445.2:c.1994C>T, NM_001285445.1:c.1994C>A, NM_001285445.1:c.1994C>T, XM_017023061.2:c.2033C>A, XM_017023061.2:c.2033C>T, XM_006720865.2:c.1952C>A, XM_006720865.2:c.1952C>T, NM_001285448.1:c.1805C>A, NM_001285448.1:c.1805C>T, NM_001285447.1:c.2033C>A, NM_001285447.1:c.2033C>T, XM_017023060.1:c.2105C>A, XM_017023060.1:c.2105C>T, XM_017023062.1:c.2033C>A, XM_017023062.1:c.2033C>T, XM_017023059.1:c.2033C>A, XM_017023059.1:c.2033C>T, XM_017023064.1:c.1952C>A, XM_017023064.1:c.1952C>T, XM_017023063.1:c.2033C>A, XM_017023063.1:c.2033C>T, NP_055842.2:p.Ser693Ter, NP_055842.2:p.Ser693Leu, XP_005255233.1:p.Ser678Ter, XP_005255233.1:p.Ser678Leu, NP_001310948.1:p.Ser692Ter, NP_001310948.1:p.Ser692Leu, NP_001272373.1:p.Ser666Ter, NP_001272373.1:p.Ser666Leu, NP_001272374.1:p.Ser665Ter, NP_001272374.1:p.Ser665Leu, XP_016878550.1:p.Ser678Ter, XP_016878550.1:p.Ser678Leu, XP_006720928.2:p.Ser651Ter, XP_006720928.2:p.Ser651Leu, NP_001272377.1:p.Ser602Ter, NP_001272377.1:p.Ser602Leu, NP_001272376.1:p.Ser678Ter, NP_001272376.1:p.Ser678Leu, XP_016878549.1:p.Ser702Ter, XP_016878549.1:p.Ser702Leu, XP_016878551.1:p.Ser678Ter, XP_016878551.1:p.Ser678Leu, XP_016878548.1:p.Ser678Ter, XP_016878548.1:p.Ser678Leu, XP_016878553.1:p.Ser651Ter, XP_016878553.1:p.Ser651Leu, XP_016878552.1:p.Ser678Ter, XP_016878552.1:p.Ser678Leu
            7.

            rs781230056 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A,C [Show Flanks]
              Chromosome:
              16:15036334 (GRCh38)
              16:15130191 (GRCh37)
              Canonical SPDI:
              NC_000016.10:15036333:T:A,NC_000016.10:15036333:T:C
              Gene:
              PDXDC1 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000008/2 (TOPMED)
              HGVS:
              NC_000016.10:g.15036334T>A, NC_000016.10:g.15036334T>C, NC_000016.9:g.15130191T>A, NC_000016.9:g.15130191T>C, NT_187607.1:g.633355A>T, NT_187607.1:g.633355A>G, NM_015027.4:c.*59T>A, NM_015027.4:c.*59T>C, NM_015027.3:c.*59T>A, NM_015027.3:c.*59T>C, NM_015027.2:c.*59T>A, NM_015027.2:c.*59T>C, XM_005255176.3:c.*59T>A, XM_005255176.3:c.*59T>C, XM_005255176.1:c.*59T>A, XM_005255176.1:c.*59T>C, NM_001324019.2:c.*59T>A, NM_001324019.2:c.*59T>C, NM_001324019.1:c.*59T>A, NM_001324019.1:c.*59T>C, NM_001285444.2:c.*59T>A, NM_001285444.2:c.*59T>C, NM_001285444.1:c.*59T>A, NM_001285444.1:c.*59T>C, NM_001285445.2:c.*59T>A, NM_001285445.2:c.*59T>C, NM_001285445.1:c.*59T>A, NM_001285445.1:c.*59T>C, XM_017023061.2:c.*59T>A, XM_017023061.2:c.*59T>C, XM_006720865.2:c.*59T>A, XM_006720865.2:c.*59T>C, NM_001285448.1:c.*59T>A, NM_001285448.1:c.*59T>C, NM_001285447.1:c.*59T>A, NM_001285447.1:c.*59T>C, XM_017023060.1:c.*59T>A, XM_017023060.1:c.*59T>C, XM_017023063.1:c.*319T>A, XM_017023063.1:c.*319T>C, XM_017023062.1:c.*59T>A, XM_017023062.1:c.*59T>C, XM_017023059.1:c.*59T>A, XM_017023059.1:c.*59T>C, XM_017023064.1:c.*59T>A, XM_017023064.1:c.*59T>C
              10.

              rs781153757 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                16:15009724 (GRCh38)
                16:15103581 (GRCh37)
                Canonical SPDI:
                NC_000016.10:15009723:G:A,NC_000016.10:15009723:G:C
                Gene:
                PDXDC1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000169/2 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000016.10:g.15009724G>A, NC_000016.10:g.15009724G>C, NC_000016.9:g.15103581G>A, NC_000016.9:g.15103581G>C, NT_187607.1:g.849074G>A, NT_187607.1:g.849074G>C, NM_015027.4:c.692G>A, NM_015027.4:c.692G>C, NM_015027.3:c.692G>A, NM_015027.3:c.692G>C, NM_015027.2:c.692G>A, NM_015027.2:c.692G>C, XM_005255176.3:c.647G>A, XM_005255176.3:c.647G>C, XM_005255176.1:c.647G>A, XM_005255176.1:c.647G>C, NM_001324019.2:c.689G>A, NM_001324019.2:c.689G>C, NM_001324019.1:c.689G>A, NM_001324019.1:c.689G>C, NM_001285444.2:c.611G>A, NM_001285444.2:c.611G>C, NM_001285444.1:c.611G>A, NM_001285444.1:c.611G>C, NM_001285445.2:c.608G>A, NM_001285445.2:c.608G>C, NM_001285445.1:c.608G>A, NM_001285445.1:c.608G>C, XM_017023061.2:c.647G>A, XM_017023061.2:c.647G>C, XM_006720865.2:c.566G>A, XM_006720865.2:c.566G>C, NM_001285450.2:c.623G>A, NM_001285450.2:c.623G>C, NM_001285450.1:c.623G>A, NM_001285450.1:c.623G>C, NM_001285449.2:c.692G>A, NM_001285449.2:c.692G>C, NM_001285449.1:c.692G>A, NM_001285449.1:c.692G>C, NM_001324020.2:c.689G>A, NM_001324020.2:c.689G>C, NM_001324020.1:c.689G>A, NM_001324020.1:c.689G>C, NM_001324021.2:c.611G>A, NM_001324021.2:c.611G>C, NM_001324021.1:c.611G>A, NM_001324021.1:c.611G>C, XM_017023065.1:c.647G>A, XM_017023065.1:c.647G>C, NM_001285448.1:c.419G>A, NM_001285448.1:c.419G>C, NM_001285447.1:c.647G>A, NM_001285447.1:c.647G>C, XM_017023064.1:c.566G>A, XM_017023064.1:c.566G>C, XM_024450196.1:c.719G>A, XM_024450196.1:c.719G>C, XM_024450195.1:c.746G>A, XM_024450195.1:c.746G>C, XM_024450197.1:c.566G>A, XM_024450197.1:c.566G>C, XM_024450194.1:c.647G>A, XM_024450194.1:c.647G>C, XM_017023060.1:c.719G>A, XM_017023060.1:c.719G>C, XM_017023063.1:c.647G>A, XM_017023063.1:c.647G>C, XM_017023062.1:c.647G>A, XM_017023062.1:c.647G>C, XM_017023059.1:c.647G>A, XM_017023059.1:c.647G>C, NP_055842.2:p.Arg231Gln, NP_055842.2:p.Arg231Pro, XP_005255233.1:p.Arg216Gln, XP_005255233.1:p.Arg216Pro, NP_001310948.1:p.Arg230Gln, NP_001310948.1:p.Arg230Pro, NP_001272373.1:p.Arg204Gln, NP_001272373.1:p.Arg204Pro, NP_001272374.1:p.Arg203Gln, NP_001272374.1:p.Arg203Pro, XP_016878550.1:p.Arg216Gln, XP_016878550.1:p.Arg216Pro, XP_006720928.2:p.Arg189Gln, XP_006720928.2:p.Arg189Pro, NP_001272379.1:p.Arg208Gln, NP_001272379.1:p.Arg208Pro, NP_001272378.1:p.Arg231Gln, NP_001272378.1:p.Arg231Pro, NP_001310949.1:p.Arg230Gln, NP_001310949.1:p.Arg230Pro, NP_001310950.1:p.Arg204Gln, NP_001310950.1:p.Arg204Pro, XP_016878554.1:p.Arg216Gln, XP_016878554.1:p.Arg216Pro, NP_001272377.1:p.Arg140Gln, NP_001272377.1:p.Arg140Pro, NP_001272376.1:p.Arg216Gln, NP_001272376.1:p.Arg216Pro, XP_016878553.1:p.Arg189Gln, XP_016878553.1:p.Arg189Pro, XP_024305964.1:p.Arg240Gln, XP_024305964.1:p.Arg240Pro, XP_024305963.1:p.Arg249Gln, XP_024305963.1:p.Arg249Pro, XP_024305965.1:p.Arg189Gln, XP_024305965.1:p.Arg189Pro, XP_024305962.1:p.Arg216Gln, XP_024305962.1:p.Arg216Pro, XP_016878549.1:p.Arg240Gln, XP_016878549.1:p.Arg240Pro, XP_016878552.1:p.Arg216Gln, XP_016878552.1:p.Arg216Pro, XP_016878551.1:p.Arg216Gln, XP_016878551.1:p.Arg216Pro, XP_016878548.1:p.Arg216Gln, XP_016878548.1:p.Arg216Pro
                12.

                rs781074734 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  16:15036636 (GRCh38)
                  16:15130493 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:15036635:C:G,NC_000016.10:15036635:C:T
                  Gene:
                  PDXDC1 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  G=0./0 (TWINSUK)
                  G=0.00052/2 (ALSPAC)
                  HGVS:
                  NC_000016.10:g.15036636C>G, NC_000016.10:g.15036636C>T, NC_000016.9:g.15130493C>G, NC_000016.9:g.15130493C>T, NT_187607.1:g.633051G>C, NT_187607.1:g.633051G>A, NM_015027.4:c.*361C>G, NM_015027.4:c.*361C>T, NM_015027.3:c.*361C>G, NM_015027.3:c.*361C>T, NM_015027.2:c.*361C>G, NM_015027.2:c.*361C>T, XM_005255176.3:c.*361C>G, XM_005255176.3:c.*361C>T, XM_005255176.1:c.*361C>G, XM_005255176.1:c.*361C>T, NM_001324019.2:c.*361C>G, NM_001324019.2:c.*361C>T, NM_001324019.1:c.*361C>G, NM_001324019.1:c.*361C>T, NM_001285444.2:c.*361C>G, NM_001285444.2:c.*361C>T, NM_001285444.1:c.*361C>G, NM_001285444.1:c.*361C>T, NM_001285445.2:c.*361C>G, NM_001285445.2:c.*361C>T, NM_001285445.1:c.*361C>G, NM_001285445.1:c.*361C>T, XM_017023061.2:c.*361C>G, XM_017023061.2:c.*361C>T, XM_006720865.2:c.*361C>G, XM_006720865.2:c.*361C>T, NM_001285448.1:c.*361C>G, NM_001285448.1:c.*361C>T, NM_001285447.1:c.*361C>G, NM_001285447.1:c.*361C>T, XM_017023060.1:c.*361C>G, XM_017023060.1:c.*361C>T, XM_017023062.1:c.*361C>G, XM_017023062.1:c.*361C>T, XM_017023059.1:c.*361C>G, XM_017023059.1:c.*361C>T, XM_017023064.1:c.*361C>G, XM_017023064.1:c.*361C>T, XM_017023063.1:c.*621C>G, XM_017023063.1:c.*621C>T
                  15.

                  rs780796213 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    16:15018936 (GRCh38)
                    16:15112793 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:15018935:G:A
                    Gene:
                    PDXDC1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000008/1 (ExAC)
                    HGVS:
                    NC_000016.10:g.15018936G>A, NC_000016.9:g.15112793G>A, NT_187607.1:g.858280G>A, NM_015027.4:c.1060G>A, NM_015027.3:c.1060G>A, NM_015027.2:c.1060G>A, XM_005255176.3:c.1015G>A, XM_005255176.1:c.1015G>A, NM_001324019.2:c.1057G>A, NM_001324019.1:c.1057G>A, NM_001285444.2:c.979G>A, NM_001285444.1:c.979G>A, NM_001285445.2:c.976G>A, NM_001285445.1:c.976G>A, XM_017023061.2:c.1015G>A, XM_006720865.2:c.934G>A, NM_001285450.2:c.991G>A, NM_001285450.1:c.991G>A, NM_001285449.2:c.1060G>A, NM_001285449.1:c.1060G>A, NM_001324020.2:c.1057G>A, NM_001324020.1:c.1057G>A, NM_001324021.2:c.979G>A, NM_001324021.1:c.979G>A, XM_017023065.1:c.1015G>A, NM_001285448.1:c.787G>A, NM_001285447.1:c.1015G>A, XM_017023064.1:c.934G>A, XM_024450196.1:c.1087G>A, XM_024450195.1:c.1114G>A, XM_024450197.1:c.934G>A, XM_024450194.1:c.1015G>A, XM_017023060.1:c.1087G>A, XM_017023063.1:c.1015G>A, XM_017023062.1:c.1015G>A, XM_017023059.1:c.1015G>A, NP_055842.2:p.Val354Met, XP_005255233.1:p.Val339Met, NP_001310948.1:p.Val353Met, NP_001272373.1:p.Val327Met, NP_001272374.1:p.Val326Met, XP_016878550.1:p.Val339Met, XP_006720928.2:p.Val312Met, NP_001272379.1:p.Val331Met, NP_001272378.1:p.Val354Met, NP_001310949.1:p.Val353Met, NP_001310950.1:p.Val327Met, XP_016878554.1:p.Val339Met, NP_001272377.1:p.Val263Met, NP_001272376.1:p.Val339Met, XP_016878553.1:p.Val312Met, XP_024305964.1:p.Val363Met, XP_024305963.1:p.Val372Met, XP_024305965.1:p.Val312Met, XP_024305962.1:p.Val339Met, XP_016878549.1:p.Val363Met, XP_016878552.1:p.Val339Met, XP_016878551.1:p.Val339Met, XP_016878548.1:p.Val339Met
                    16.

                    rs780787117 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      16:15034486 (GRCh38)
                      16:15128343 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:15034485:C:A,NC_000016.10:15034485:C:T
                      Gene:
                      PDXDC1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000012/3 (GnomAD_exomes)
                      T=0.000016/2 (ExAC)
                      HGVS:
                      NC_000016.10:g.15034486C>A, NC_000016.10:g.15034486C>T, NC_000016.9:g.15128343C>A, NC_000016.9:g.15128343C>T, NT_187607.1:g.635203G>T, NT_187607.1:g.635203G>A, NM_015027.4:c.1935C>A, NM_015027.4:c.1935C>T, NM_015027.3:c.1935C>A, NM_015027.3:c.1935C>T, NM_015027.2:c.1935C>A, NM_015027.2:c.1935C>T, XM_005255176.3:c.1890C>A, XM_005255176.3:c.1890C>T, XM_005255176.1:c.1890C>A, XM_005255176.1:c.1890C>T, NM_001324019.2:c.1932C>A, NM_001324019.2:c.1932C>T, NM_001324019.1:c.1932C>A, NM_001324019.1:c.1932C>T, NM_001285444.2:c.1854C>A, NM_001285444.2:c.1854C>T, NM_001285444.1:c.1854C>A, NM_001285444.1:c.1854C>T, NM_001285445.2:c.1851C>A, NM_001285445.2:c.1851C>T, NM_001285445.1:c.1851C>A, NM_001285445.1:c.1851C>T, XM_017023061.2:c.1890C>A, XM_017023061.2:c.1890C>T, XM_006720865.2:c.1809C>A, XM_006720865.2:c.1809C>T, NM_001285448.1:c.1662C>A, NM_001285448.1:c.1662C>T, NM_001285447.1:c.1890C>A, NM_001285447.1:c.1890C>T, XM_017023060.1:c.1962C>A, XM_017023060.1:c.1962C>T, XM_017023062.1:c.1890C>A, XM_017023062.1:c.1890C>T, XM_017023059.1:c.1890C>A, XM_017023059.1:c.1890C>T, XM_017023064.1:c.1809C>A, XM_017023064.1:c.1809C>T, XM_017023063.1:c.1890C>A, XM_017023063.1:c.1890C>T
                      17.

                      rs780770021 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->T [Show Flanks]
                        Chromosome:
                        16:15038132 (GRCh38)
                        16:15131990 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:15038132:TTTTTTT:TTTTTTTT
                        Gene:
                        PDXDC1 (Varview), NTAN1 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTTTTTTT=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        T=0.000008/1 (ExAC)
                        HGVS:
                        18.

                        rs780674767 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          16:15036205 (GRCh38)
                          16:15130062 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:15036204:C:G,NC_000016.10:15036204:C:T
                          Gene:
                          PDXDC1 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          T=0.000008/1 (ExAC)
                          T=0.000008/2 (GnomAD_exomes)
                          G=0.00006/1 (TOMMO)
                          HGVS:
                          NC_000016.10:g.15036205C>G, NC_000016.10:g.15036205C>T, NC_000016.9:g.15130062C>G, NC_000016.9:g.15130062C>T, NT_187607.1:g.633484G>C, NT_187607.1:g.633484G>A, NM_015027.4:c.2297C>G, NM_015027.4:c.2297C>T, NM_015027.3:c.2297C>G, NM_015027.3:c.2297C>T, NM_015027.2:c.2297C>G, NM_015027.2:c.2297C>T, XM_005255176.3:c.2252C>G, XM_005255176.3:c.2252C>T, XM_005255176.1:c.2252C>G, XM_005255176.1:c.2252C>T, NM_001324019.2:c.2294C>G, NM_001324019.2:c.2294C>T, NM_001324019.1:c.2294C>G, NM_001324019.1:c.2294C>T, NM_001285444.2:c.2216C>G, NM_001285444.2:c.2216C>T, NM_001285444.1:c.2216C>G, NM_001285444.1:c.2216C>T, NM_001285445.2:c.2213C>G, NM_001285445.2:c.2213C>T, NM_001285445.1:c.2213C>G, NM_001285445.1:c.2213C>T, XM_017023061.2:c.2252C>G, XM_017023061.2:c.2252C>T, XM_006720865.2:c.2171C>G, XM_006720865.2:c.2171C>T, NM_001285448.1:c.2024C>G, NM_001285448.1:c.2024C>T, NM_001285447.1:c.2252C>G, NM_001285447.1:c.2252C>T, XM_017023060.1:c.2324C>G, XM_017023060.1:c.2324C>T, XM_017023062.1:c.2252C>G, XM_017023062.1:c.2252C>T, XM_017023059.1:c.2252C>G, XM_017023059.1:c.2252C>T, XM_017023064.1:c.2171C>G, XM_017023064.1:c.2171C>T, XM_017023063.1:c.*190C>G, XM_017023063.1:c.*190C>T, NP_055842.2:p.Ala766Gly, NP_055842.2:p.Ala766Val, XP_005255233.1:p.Ala751Gly, XP_005255233.1:p.Ala751Val, NP_001310948.1:p.Ala765Gly, NP_001310948.1:p.Ala765Val, NP_001272373.1:p.Ala739Gly, NP_001272373.1:p.Ala739Val, NP_001272374.1:p.Ala738Gly, NP_001272374.1:p.Ala738Val, XP_016878550.1:p.Ala751Gly, XP_016878550.1:p.Ala751Val, XP_006720928.2:p.Ala724Gly, XP_006720928.2:p.Ala724Val, NP_001272377.1:p.Ala675Gly, NP_001272377.1:p.Ala675Val, NP_001272376.1:p.Ala751Gly, NP_001272376.1:p.Ala751Val, XP_016878549.1:p.Ala775Gly, XP_016878549.1:p.Ala775Val, XP_016878551.1:p.Ala751Gly, XP_016878551.1:p.Ala751Val, XP_016878548.1:p.Ala751Gly, XP_016878548.1:p.Ala751Val, XP_016878553.1:p.Ala724Gly, XP_016878553.1:p.Ala724Val
                          20.

                          rs780538036 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            16:15016165 (GRCh38)
                            16:15110022 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:15016164:G:A
                            Gene:
                            PDXDC1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000008/2 (GnomAD_exomes)
                            A=0.000017/2 (ExAC)
                            A=0.000029/4 (GnomAD)
                            HGVS:
                            NC_000016.10:g.15016165G>A, NC_000016.9:g.15110022G>A, NT_187607.1:g.855509G>A, NM_015027.4:c.764G>A, NM_015027.3:c.764G>A, NM_015027.2:c.764G>A, XM_005255176.3:c.719G>A, XM_005255176.1:c.719G>A, NM_001324019.2:c.761G>A, NM_001324019.1:c.761G>A, NM_001285444.2:c.683G>A, NM_001285444.1:c.683G>A, NM_001285445.2:c.680G>A, NM_001285445.1:c.680G>A, XM_017023061.2:c.719G>A, XM_006720865.2:c.638G>A, NM_001285450.2:c.695G>A, NM_001285450.1:c.695G>A, NM_001285449.2:c.764G>A, NM_001285449.1:c.764G>A, NM_001324020.2:c.761G>A, NM_001324020.1:c.761G>A, NM_001324021.2:c.683G>A, NM_001324021.1:c.683G>A, XM_017023065.1:c.719G>A, NM_001285448.1:c.491G>A, NM_001285447.1:c.719G>A, XM_017023064.1:c.638G>A, XM_024450196.1:c.791G>A, XM_024450195.1:c.818G>A, XM_024450197.1:c.638G>A, XM_024450194.1:c.719G>A, XM_017023060.1:c.791G>A, XM_017023063.1:c.719G>A, XM_017023062.1:c.719G>A, XM_017023059.1:c.719G>A, NP_055842.2:p.Arg255Lys, XP_005255233.1:p.Arg240Lys, NP_001310948.1:p.Arg254Lys, NP_001272373.1:p.Arg228Lys, NP_001272374.1:p.Arg227Lys, XP_016878550.1:p.Arg240Lys, XP_006720928.2:p.Arg213Lys, NP_001272379.1:p.Arg232Lys, NP_001272378.1:p.Arg255Lys, NP_001310949.1:p.Arg254Lys, NP_001310950.1:p.Arg228Lys, XP_016878554.1:p.Arg240Lys, NP_001272377.1:p.Arg164Lys, NP_001272376.1:p.Arg240Lys, XP_016878553.1:p.Arg213Lys, XP_024305964.1:p.Arg264Lys, XP_024305963.1:p.Arg273Lys, XP_024305965.1:p.Arg213Lys, XP_024305962.1:p.Arg240Lys, XP_016878549.1:p.Arg264Lys, XP_016878552.1:p.Arg240Lys, XP_016878551.1:p.Arg240Lys, XP_016878548.1:p.Arg240Lys

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