U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 1000

1.

rs1490006785 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    15:65729615 (GRCh38)
    15:66021953 (GRCh37)
    Canonical SPDI:
    NC_000015.10:65729614:C:T
    Gene:
    DENND4A (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
    HGVS:
    NC_000015.10:g.65729615C>T, NC_000015.9:g.66021953C>T, XM_005254120.6:c.1230G>A, XM_005254120.5:c.1230G>A, XM_005254120.4:c.1230G>A, XM_005254120.3:c.1230G>A, XM_005254120.2:c.1230G>A, XM_005254120.1:c.1230G>A, NM_005848.4:c.1230G>A, NM_005848.3:c.1230G>A, XM_011521156.4:c.1230G>A, XM_011521156.3:c.1230G>A, XM_011521156.2:c.1230G>A, XM_011521156.1:c.1230G>A, NM_001144823.2:c.1230G>A, NM_001144823.1:c.1230G>A, XM_047432089.1:c.1230G>A, XM_047432093.1:c.1230G>A, XM_047432094.1:c.1230G>A, XM_047432096.1:c.1230G>A, XM_047432086.1:c.1230G>A, XM_047432090.1:c.1230G>A, NM_001320835.1:c.1230G>A, XM_047432101.1:c.1230G>A, XM_047432103.1:c.1230G>A, XM_047432087.1:c.1230G>A, XM_047432091.1:c.1230G>A, XM_047432097.1:c.1230G>A, XM_047432088.1:c.1230G>A, XM_047432098.1:c.1230G>A, XM_047432092.1:c.1230G>A, NM_001376919.1:c.1230G>A, XM_047432095.1:c.1230G>A, XM_047432104.1:c.1230G>A, XM_047432100.1:c.1230G>A, NM_001376920.1:c.1230G>A, XM_047432099.1:c.1230G>A, XM_047432102.1:c.1230G>A, XM_047432106.1:c.1230G>A

    2.

    rs1489608136 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      15:65664622 (GRCh38)
      15:65956960 (GRCh37)
      Canonical SPDI:
      NC_000015.10:65664621:G:T
      Gene:
      DENND4A (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000015.10:g.65664622G>T, NC_000015.9:g.65956960G>T, XM_005254120.6:c.5460C>A, XM_005254120.5:c.5460C>A, XM_005254120.4:c.5460C>A, XM_005254120.3:c.5460C>A, XM_005254120.2:c.5460C>A, XM_005254120.1:c.5460C>A, NM_005848.4:c.5328C>A, NM_005848.3:c.5328C>A, NM_001144823.2:c.5457C>A, NM_001144823.1:c.5457C>A, XM_047432089.1:c.5487C>A, XM_047432093.1:c.5484C>A, XM_047432094.1:c.5460C>A, XM_047432096.1:c.5457C>A, XM_047432086.1:c.5487C>A, XM_047432090.1:c.5484C>A, NM_001320835.1:c.5460C>A, XM_047432101.1:c.5355C>A, XM_047432103.1:c.5328C>A, XM_047432087.1:c.5487C>A, XM_047432091.1:c.5484C>A, XM_047432097.1:c.5457C>A, XM_047432088.1:c.5487C>A, XM_047432098.1:c.5355C>A, XM_047432092.1:c.5484C>A, NM_001376919.1:c.5328C>A, XM_047432095.1:c.5457C>A, XM_047432104.1:c.5328C>A, XM_047432100.1:c.5355C>A, NM_001376920.1:c.5328C>A, XM_047432099.1:c.5355C>A, XM_047432102.1:c.5328C>A, XM_047432105.1:c.3939C>A

      3.

      rs1489510038 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        15:65691220 (GRCh38)
        15:65983558 (GRCh37)
        Canonical SPDI:
        NC_000015.10:65691219:T:C
        Gene:
        DENND4A (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000066/1 (ALFA)
        C=0.000007/1 (GnomAD)
        C=0.000446/2 (Estonian)
        HGVS:
        NC_000015.10:g.65691220T>C, NC_000015.9:g.65983558T>C, XM_005254120.6:c.3374A>G, XM_005254120.5:c.3374A>G, XM_005254120.4:c.3374A>G, XM_005254120.3:c.3374A>G, XM_005254120.2:c.3374A>G, XM_005254120.1:c.3374A>G, NM_005848.4:c.3242A>G, NM_005848.3:c.3242A>G, XM_011521156.4:c.3374A>G, XM_011521156.3:c.3374A>G, XM_011521156.2:c.3374A>G, XM_011521156.1:c.3374A>G, NM_001144823.2:c.3371A>G, NM_001144823.1:c.3371A>G, XM_047432089.1:c.3374A>G, XM_047432093.1:c.3371A>G, XM_047432094.1:c.3374A>G, XM_047432096.1:c.3371A>G, XM_047432086.1:c.3374A>G, XM_047432090.1:c.3371A>G, NM_001320835.1:c.3374A>G, XM_047432101.1:c.3242A>G, XM_047432103.1:c.3242A>G, XM_047432087.1:c.3374A>G, XM_047432091.1:c.3371A>G, XM_047432097.1:c.3371A>G, XM_047432088.1:c.3374A>G, XM_047432098.1:c.3242A>G, XM_047432092.1:c.3371A>G, NM_001376919.1:c.3242A>G, XM_047432095.1:c.3371A>G, XM_047432104.1:c.3242A>G, XM_047432100.1:c.3242A>G, NM_001376920.1:c.3242A>G, XM_047432099.1:c.3242A>G, XM_047432102.1:c.3242A>G, XM_047432105.1:c.1826A>G, XM_047432106.1:c.3242A>G, XP_005254177.1:p.Asp1125Gly, NP_005839.3:p.Asp1081Gly, XP_011519458.1:p.Asp1125Gly, NP_001138295.1:p.Asp1124Gly, XP_047288045.1:p.Asp1125Gly, XP_047288049.1:p.Asp1124Gly, XP_047288050.1:p.Asp1125Gly, XP_047288052.1:p.Asp1124Gly, XP_047288042.1:p.Asp1125Gly, XP_047288046.1:p.Asp1124Gly, NP_001307764.1:p.Asp1125Gly, XP_047288057.1:p.Asp1081Gly, XP_047288059.1:p.Asp1081Gly, XP_047288043.1:p.Asp1125Gly, XP_047288047.1:p.Asp1124Gly, XP_047288053.1:p.Asp1124Gly, XP_047288044.1:p.Asp1125Gly, XP_047288054.1:p.Asp1081Gly, XP_047288048.1:p.Asp1124Gly, NP_001363848.1:p.Asp1081Gly, XP_047288051.1:p.Asp1124Gly, XP_047288060.1:p.Asp1081Gly, XP_047288056.1:p.Asp1081Gly, NP_001363849.1:p.Asp1081Gly, XP_047288055.1:p.Asp1081Gly, XP_047288058.1:p.Asp1081Gly, XP_047288061.1:p.Asp609Gly, XP_047288062.1:p.Asp1081Gly

        4.

        rs1487896039 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          15:65701813 (GRCh38)
          15:65994151 (GRCh37)
          Canonical SPDI:
          NC_000015.10:65701812:C:A
          Gene:
          DENND4A (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0.000111/1 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000015.10:g.65701813C>A, NC_000015.9:g.65994151C>A, XM_005254120.6:c.2508G>T, XM_005254120.5:c.2508G>T, XM_005254120.4:c.2508G>T, XM_005254120.3:c.2508G>T, XM_005254120.2:c.2508G>T, XM_005254120.1:c.2508G>T, NM_005848.4:c.2508G>T, NM_005848.3:c.2508G>T, XM_011521156.4:c.2508G>T, XM_011521156.3:c.2508G>T, XM_011521156.2:c.2508G>T, XM_011521156.1:c.2508G>T, NM_001144823.2:c.2508G>T, NM_001144823.1:c.2508G>T, XM_047432089.1:c.2508G>T, XM_047432093.1:c.2508G>T, XM_047432094.1:c.2508G>T, XM_047432096.1:c.2508G>T, XM_047432086.1:c.2508G>T, XM_047432090.1:c.2508G>T, NM_001320835.1:c.2508G>T, XM_047432101.1:c.2508G>T, XM_047432103.1:c.2508G>T, XM_047432087.1:c.2508G>T, XM_047432091.1:c.2508G>T, XM_047432097.1:c.2508G>T, XM_047432088.1:c.2508G>T, XM_047432098.1:c.2508G>T, XM_047432092.1:c.2508G>T, NM_001376919.1:c.2508G>T, XM_047432095.1:c.2508G>T, XM_047432104.1:c.2508G>T, XM_047432100.1:c.2508G>T, NM_001376920.1:c.2508G>T, XM_047432099.1:c.2508G>T, XM_047432102.1:c.2508G>T, XM_047432105.1:c.960G>T, XM_047432106.1:c.2508G>T, XP_005254177.1:p.Met836Ile, NP_005839.3:p.Met836Ile, XP_011519458.1:p.Met836Ile, NP_001138295.1:p.Met836Ile, XP_047288045.1:p.Met836Ile, XP_047288049.1:p.Met836Ile, XP_047288050.1:p.Met836Ile, XP_047288052.1:p.Met836Ile, XP_047288042.1:p.Met836Ile, XP_047288046.1:p.Met836Ile, NP_001307764.1:p.Met836Ile, XP_047288057.1:p.Met836Ile, XP_047288059.1:p.Met836Ile, XP_047288043.1:p.Met836Ile, XP_047288047.1:p.Met836Ile, XP_047288053.1:p.Met836Ile, XP_047288044.1:p.Met836Ile, XP_047288054.1:p.Met836Ile, XP_047288048.1:p.Met836Ile, NP_001363848.1:p.Met836Ile, XP_047288051.1:p.Met836Ile, XP_047288060.1:p.Met836Ile, XP_047288056.1:p.Met836Ile, NP_001363849.1:p.Met836Ile, XP_047288055.1:p.Met836Ile, XP_047288058.1:p.Met836Ile, XP_047288061.1:p.Met320Ile, XP_047288062.1:p.Met836Ile

          5.

          rs1487221617 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            15:65669816 (GRCh38)
            15:65962154 (GRCh37)
            Canonical SPDI:
            NC_000015.10:65669815:A:C
            Gene:
            DENND4A (Varview)
            Functional Consequence:
            missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000015.10:g.65669816A>C, NC_000015.9:g.65962154A>C, XM_005254120.6:c.4750T>G, XM_005254120.5:c.4750T>G, XM_005254120.4:c.4750T>G, XM_005254120.3:c.4750T>G, XM_005254120.2:c.4750T>G, XM_005254120.1:c.4750T>G, NM_005848.4:c.4618T>G, NM_005848.3:c.4618T>G, NM_001144823.2:c.4747T>G, NM_001144823.1:c.4747T>G, XM_047432089.1:c.4750T>G, XM_047432093.1:c.4747T>G, XM_047432094.1:c.4750T>G, XM_047432096.1:c.4747T>G, XM_047432086.1:c.4750T>G, XM_047432090.1:c.4747T>G, NM_001320835.1:c.4750T>G, XM_047432101.1:c.4618T>G, XM_047432103.1:c.4618T>G, XM_047432087.1:c.4750T>G, XM_047432091.1:c.4747T>G, XM_047432097.1:c.4747T>G, XM_047432088.1:c.4750T>G, XM_047432098.1:c.4618T>G, XM_047432092.1:c.4747T>G, NM_001376919.1:c.4618T>G, XM_047432095.1:c.4747T>G, XM_047432104.1:c.4618T>G, XM_047432100.1:c.4618T>G, NM_001376920.1:c.4618T>G, XM_047432099.1:c.4618T>G, XM_047432102.1:c.4618T>G, XM_047432105.1:c.3202T>G, XP_005254177.1:p.Ser1584Ala, NP_005839.3:p.Ser1540Ala, NP_001138295.1:p.Ser1583Ala, XP_047288045.1:p.Ser1584Ala, XP_047288049.1:p.Ser1583Ala, XP_047288050.1:p.Ser1584Ala, XP_047288052.1:p.Ser1583Ala, XP_047288042.1:p.Ser1584Ala, XP_047288046.1:p.Ser1583Ala, NP_001307764.1:p.Ser1584Ala, XP_047288057.1:p.Ser1540Ala, XP_047288059.1:p.Ser1540Ala, XP_047288043.1:p.Ser1584Ala, XP_047288047.1:p.Ser1583Ala, XP_047288053.1:p.Ser1583Ala, XP_047288044.1:p.Ser1584Ala, XP_047288054.1:p.Ser1540Ala, XP_047288048.1:p.Ser1583Ala, NP_001363848.1:p.Ser1540Ala, XP_047288051.1:p.Ser1583Ala, XP_047288060.1:p.Ser1540Ala, XP_047288056.1:p.Ser1540Ala, NP_001363849.1:p.Ser1540Ala, XP_047288055.1:p.Ser1540Ala, XP_047288058.1:p.Ser1540Ala, XP_047288061.1:p.Ser1068Ala

            6.

            rs1487098348 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              15:65752616 (GRCh38)
              15:66044954 (GRCh37)
              Canonical SPDI:
              NC_000015.10:65752615:G:A
              Gene:
              DENND4A (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
              Validated:
              by frequency
              MAF:
              A=0.000006/1 (GnomAD_exomes)
              HGVS:
              NC_000015.10:g.65752616G>A, NC_000015.9:g.66044954G>A, XM_005254120.6:c.324C>T, XM_005254120.5:c.324C>T, XM_005254120.4:c.324C>T, XM_005254120.3:c.324C>T, XM_005254120.2:c.324C>T, XM_005254120.1:c.324C>T, NM_005848.4:c.324C>T, NM_005848.3:c.324C>T, XM_011521156.4:c.324C>T, XM_011521156.3:c.324C>T, XM_011521156.2:c.324C>T, XM_011521156.1:c.324C>T, NM_001144823.2:c.324C>T, NM_001144823.1:c.324C>T, XM_047432089.1:c.324C>T, XM_047432093.1:c.324C>T, XM_047432094.1:c.324C>T, XM_047432096.1:c.324C>T, XM_047432086.1:c.324C>T, XM_047432090.1:c.324C>T, NM_001320835.1:c.324C>T, XM_047432101.1:c.324C>T, XM_047432103.1:c.324C>T, XM_047432087.1:c.324C>T, XM_047432091.1:c.324C>T, XM_047432097.1:c.324C>T, XM_047432088.1:c.324C>T, XM_047432098.1:c.324C>T, XM_047432092.1:c.324C>T, NM_001376919.1:c.324C>T, XM_047432095.1:c.324C>T, XM_047432104.1:c.324C>T, XM_047432100.1:c.324C>T, NM_001376920.1:c.324C>T, XM_047432099.1:c.324C>T, XM_047432102.1:c.324C>T, XM_047432106.1:c.324C>T

              7.

              rs1486788860 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                15:65731670 (GRCh38)
                15:66024008 (GRCh37)
                Canonical SPDI:
                NC_000015.10:65731669:G:C
                Gene:
                DENND4A (Varview)
                Functional Consequence:
                missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                HGVS:
                NC_000015.10:g.65731670G>C, NC_000015.9:g.66024008G>C, XM_005254120.6:c.1138C>G, XM_005254120.5:c.1138C>G, XM_005254120.4:c.1138C>G, XM_005254120.3:c.1138C>G, XM_005254120.2:c.1138C>G, XM_005254120.1:c.1138C>G, NM_005848.4:c.1138C>G, NM_005848.3:c.1138C>G, XM_011521156.4:c.1138C>G, XM_011521156.3:c.1138C>G, XM_011521156.2:c.1138C>G, XM_011521156.1:c.1138C>G, NM_001144823.2:c.1138C>G, NM_001144823.1:c.1138C>G, XM_047432089.1:c.1138C>G, XM_047432093.1:c.1138C>G, XM_047432094.1:c.1138C>G, XM_047432096.1:c.1138C>G, XM_047432086.1:c.1138C>G, XM_047432090.1:c.1138C>G, NM_001320835.1:c.1138C>G, XM_047432101.1:c.1138C>G, XM_047432103.1:c.1138C>G, XM_047432087.1:c.1138C>G, XM_047432091.1:c.1138C>G, XM_047432097.1:c.1138C>G, XM_047432088.1:c.1138C>G, XM_047432098.1:c.1138C>G, XM_047432092.1:c.1138C>G, NM_001376919.1:c.1138C>G, XM_047432095.1:c.1138C>G, XM_047432104.1:c.1138C>G, XM_047432100.1:c.1138C>G, NM_001376920.1:c.1138C>G, XM_047432099.1:c.1138C>G, XM_047432102.1:c.1138C>G, XM_047432106.1:c.1138C>G, XP_005254177.1:p.Gln380Glu, NP_005839.3:p.Gln380Glu, XP_011519458.1:p.Gln380Glu, NP_001138295.1:p.Gln380Glu, XP_047288045.1:p.Gln380Glu, XP_047288049.1:p.Gln380Glu, XP_047288050.1:p.Gln380Glu, XP_047288052.1:p.Gln380Glu, XP_047288042.1:p.Gln380Glu, XP_047288046.1:p.Gln380Glu, NP_001307764.1:p.Gln380Glu, XP_047288057.1:p.Gln380Glu, XP_047288059.1:p.Gln380Glu, XP_047288043.1:p.Gln380Glu, XP_047288047.1:p.Gln380Glu, XP_047288053.1:p.Gln380Glu, XP_047288044.1:p.Gln380Glu, XP_047288054.1:p.Gln380Glu, XP_047288048.1:p.Gln380Glu, NP_001363848.1:p.Gln380Glu, XP_047288051.1:p.Gln380Glu, XP_047288060.1:p.Gln380Glu, XP_047288056.1:p.Gln380Glu, NP_001363849.1:p.Gln380Glu, XP_047288055.1:p.Gln380Glu, XP_047288058.1:p.Gln380Glu, XP_047288062.1:p.Gln380Glu

                8.

                rs1486357272 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  15:65752466 (GRCh38)
                  15:66044804 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:65752465:G:A
                  Gene:
                  DENND4A (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000015.10:g.65752466G>A, NC_000015.9:g.66044804G>A, XM_005254120.6:c.474C>T, XM_005254120.5:c.474C>T, XM_005254120.4:c.474C>T, XM_005254120.3:c.474C>T, XM_005254120.2:c.474C>T, XM_005254120.1:c.474C>T, NM_005848.4:c.474C>T, NM_005848.3:c.474C>T, XM_011521156.4:c.474C>T, XM_011521156.3:c.474C>T, XM_011521156.2:c.474C>T, XM_011521156.1:c.474C>T, NM_001144823.2:c.474C>T, NM_001144823.1:c.474C>T, XM_047432089.1:c.474C>T, XM_047432093.1:c.474C>T, XM_047432094.1:c.474C>T, XM_047432096.1:c.474C>T, XM_047432086.1:c.474C>T, XM_047432090.1:c.474C>T, NM_001320835.1:c.474C>T, XM_047432101.1:c.474C>T, XM_047432103.1:c.474C>T, XM_047432087.1:c.474C>T, XM_047432091.1:c.474C>T, XM_047432097.1:c.474C>T, XM_047432088.1:c.474C>T, XM_047432098.1:c.474C>T, XM_047432092.1:c.474C>T, NM_001376919.1:c.474C>T, XM_047432095.1:c.474C>T, XM_047432104.1:c.474C>T, XM_047432100.1:c.474C>T, NM_001376920.1:c.474C>T, XM_047432099.1:c.474C>T, XM_047432102.1:c.474C>T, XM_047432106.1:c.474C>T

                  9.

                  rs1485750668 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    15:65668022 (GRCh38)
                    15:65960360 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:65668021:C:T
                    Gene:
                    DENND4A (Varview)
                    Functional Consequence:
                    missense_variant,genic_downstream_transcript_variant,coding_sequence_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_000015.10:g.65668022C>T, NC_000015.9:g.65960360C>T, XM_005254120.6:c.4889G>A, XM_005254120.5:c.4889G>A, XM_005254120.4:c.4889G>A, XM_005254120.3:c.4889G>A, XM_005254120.2:c.4889G>A, XM_005254120.1:c.4889G>A, NM_005848.4:c.4757G>A, NM_005848.3:c.4757G>A, NM_001144823.2:c.4886G>A, NM_001144823.1:c.4886G>A, XM_047432089.1:c.4889G>A, XM_047432093.1:c.4886G>A, XM_047432094.1:c.4889G>A, XM_047432096.1:c.4886G>A, XM_047432086.1:c.4889G>A, XM_047432090.1:c.4886G>A, NM_001320835.1:c.4889G>A, XM_047432101.1:c.4757G>A, XM_047432103.1:c.4757G>A, XM_047432087.1:c.4889G>A, XM_047432091.1:c.4886G>A, XM_047432097.1:c.4886G>A, XM_047432088.1:c.4889G>A, XM_047432098.1:c.4757G>A, XM_047432092.1:c.4886G>A, NM_001376919.1:c.4757G>A, XM_047432095.1:c.4886G>A, XM_047432104.1:c.4757G>A, XM_047432100.1:c.4757G>A, NM_001376920.1:c.4757G>A, XM_047432099.1:c.4757G>A, XM_047432102.1:c.4757G>A, XM_047432105.1:c.3341G>A, XP_005254177.1:p.Arg1630Lys, NP_005839.3:p.Arg1586Lys, NP_001138295.1:p.Arg1629Lys, XP_047288045.1:p.Arg1630Lys, XP_047288049.1:p.Arg1629Lys, XP_047288050.1:p.Arg1630Lys, XP_047288052.1:p.Arg1629Lys, XP_047288042.1:p.Arg1630Lys, XP_047288046.1:p.Arg1629Lys, NP_001307764.1:p.Arg1630Lys, XP_047288057.1:p.Arg1586Lys, XP_047288059.1:p.Arg1586Lys, XP_047288043.1:p.Arg1630Lys, XP_047288047.1:p.Arg1629Lys, XP_047288053.1:p.Arg1629Lys, XP_047288044.1:p.Arg1630Lys, XP_047288054.1:p.Arg1586Lys, XP_047288048.1:p.Arg1629Lys, NP_001363848.1:p.Arg1586Lys, XP_047288051.1:p.Arg1629Lys, XP_047288060.1:p.Arg1586Lys, XP_047288056.1:p.Arg1586Lys, NP_001363849.1:p.Arg1586Lys, XP_047288055.1:p.Arg1586Lys, XP_047288058.1:p.Arg1586Lys, XP_047288061.1:p.Arg1114Lys

                    10.

                    rs1485591387 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      15:65691465 (GRCh38)
                      15:65983803 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:65691464:A:C
                      Gene:
                      DENND4A (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000015.10:g.65691465A>C, NC_000015.9:g.65983803A>C, XM_005254120.6:c.3129T>G, XM_005254120.5:c.3129T>G, XM_005254120.4:c.3129T>G, XM_005254120.3:c.3129T>G, XM_005254120.2:c.3129T>G, XM_005254120.1:c.3129T>G, NM_005848.4:c.2997T>G, NM_005848.3:c.2997T>G, XM_011521156.4:c.3129T>G, XM_011521156.3:c.3129T>G, XM_011521156.2:c.3129T>G, XM_011521156.1:c.3129T>G, NM_001144823.2:c.3126T>G, NM_001144823.1:c.3126T>G, XM_047432089.1:c.3129T>G, XM_047432093.1:c.3126T>G, XM_047432094.1:c.3129T>G, XM_047432096.1:c.3126T>G, XM_047432086.1:c.3129T>G, XM_047432090.1:c.3126T>G, NM_001320835.1:c.3129T>G, XM_047432101.1:c.2997T>G, XM_047432103.1:c.2997T>G, XM_047432087.1:c.3129T>G, XM_047432091.1:c.3126T>G, XM_047432097.1:c.3126T>G, XM_047432088.1:c.3129T>G, XM_047432098.1:c.2997T>G, XM_047432092.1:c.3126T>G, NM_001376919.1:c.2997T>G, XM_047432095.1:c.3126T>G, XM_047432104.1:c.2997T>G, XM_047432100.1:c.2997T>G, NM_001376920.1:c.2997T>G, XM_047432099.1:c.2997T>G, XM_047432102.1:c.2997T>G, XM_047432105.1:c.1581T>G, XM_047432106.1:c.2997T>G, XP_005254177.1:p.Asn1043Lys, NP_005839.3:p.Asn999Lys, XP_011519458.1:p.Asn1043Lys, NP_001138295.1:p.Asn1042Lys, XP_047288045.1:p.Asn1043Lys, XP_047288049.1:p.Asn1042Lys, XP_047288050.1:p.Asn1043Lys, XP_047288052.1:p.Asn1042Lys, XP_047288042.1:p.Asn1043Lys, XP_047288046.1:p.Asn1042Lys, NP_001307764.1:p.Asn1043Lys, XP_047288057.1:p.Asn999Lys, XP_047288059.1:p.Asn999Lys, XP_047288043.1:p.Asn1043Lys, XP_047288047.1:p.Asn1042Lys, XP_047288053.1:p.Asn1042Lys, XP_047288044.1:p.Asn1043Lys, XP_047288054.1:p.Asn999Lys, XP_047288048.1:p.Asn1042Lys, NP_001363848.1:p.Asn999Lys, XP_047288051.1:p.Asn1042Lys, XP_047288060.1:p.Asn999Lys, XP_047288056.1:p.Asn999Lys, NP_001363849.1:p.Asn999Lys, XP_047288055.1:p.Asn999Lys, XP_047288058.1:p.Asn999Lys, XP_047288061.1:p.Asn527Lys, XP_047288062.1:p.Asn999Lys

                      11.

                      rs1485354616 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        15:65676471 (GRCh38)
                        15:65968809 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:65676470:C:T
                        Gene:
                        DENND4A (Varview)
                        Functional Consequence:
                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000011/3 (TOPMED)
                        HGVS:
                        NC_000015.10:g.65676471C>T, NC_000015.9:g.65968809C>T, XM_005254120.6:c.4343G>A, XM_005254120.5:c.4343G>A, XM_005254120.4:c.4343G>A, XM_005254120.3:c.4343G>A, XM_005254120.2:c.4343G>A, XM_005254120.1:c.4343G>A, NM_005848.4:c.4211G>A, NM_005848.3:c.4211G>A, NM_001144823.2:c.4340G>A, NM_001144823.1:c.4340G>A, XM_047432089.1:c.4343G>A, XM_047432093.1:c.4340G>A, XM_047432094.1:c.4343G>A, XM_047432096.1:c.4340G>A, XM_047432086.1:c.4343G>A, XM_047432090.1:c.4340G>A, NM_001320835.1:c.4343G>A, XM_047432101.1:c.4211G>A, XM_047432103.1:c.4211G>A, XM_047432087.1:c.4343G>A, XM_047432091.1:c.4340G>A, XM_047432097.1:c.4340G>A, XM_047432088.1:c.4343G>A, XM_047432098.1:c.4211G>A, XM_047432092.1:c.4340G>A, NM_001376919.1:c.4211G>A, XM_047432095.1:c.4340G>A, XM_047432104.1:c.4211G>A, XM_047432100.1:c.4211G>A, NM_001376920.1:c.4211G>A, XM_047432099.1:c.4211G>A, XM_047432102.1:c.4211G>A, XM_047432105.1:c.2795G>A, XP_005254177.1:p.Ser1448Asn, NP_005839.3:p.Ser1404Asn, NP_001138295.1:p.Ser1447Asn, XP_047288045.1:p.Ser1448Asn, XP_047288049.1:p.Ser1447Asn, XP_047288050.1:p.Ser1448Asn, XP_047288052.1:p.Ser1447Asn, XP_047288042.1:p.Ser1448Asn, XP_047288046.1:p.Ser1447Asn, NP_001307764.1:p.Ser1448Asn, XP_047288057.1:p.Ser1404Asn, XP_047288059.1:p.Ser1404Asn, XP_047288043.1:p.Ser1448Asn, XP_047288047.1:p.Ser1447Asn, XP_047288053.1:p.Ser1447Asn, XP_047288044.1:p.Ser1448Asn, XP_047288054.1:p.Ser1404Asn, XP_047288048.1:p.Ser1447Asn, NP_001363848.1:p.Ser1404Asn, XP_047288051.1:p.Ser1447Asn, XP_047288060.1:p.Ser1404Asn, XP_047288056.1:p.Ser1404Asn, NP_001363849.1:p.Ser1404Asn, XP_047288055.1:p.Ser1404Asn, XP_047288058.1:p.Ser1404Asn, XP_047288061.1:p.Ser932Asn

                        12.

                        rs1484363030 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          15:65729226 (GRCh38)
                          15:66021564 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:65729225:G:T
                          Gene:
                          DENND4A (Varview)
                          Functional Consequence:
                          missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                          HGVS:
                          NC_000015.10:g.65729226G>T, NC_000015.9:g.66021564G>T, XM_005254120.6:c.1333C>A, XM_005254120.5:c.1333C>A, XM_005254120.4:c.1333C>A, XM_005254120.3:c.1333C>A, XM_005254120.2:c.1333C>A, XM_005254120.1:c.1333C>A, NM_005848.4:c.1333C>A, NM_005848.3:c.1333C>A, XM_011521156.4:c.1333C>A, XM_011521156.3:c.1333C>A, XM_011521156.2:c.1333C>A, XM_011521156.1:c.1333C>A, NM_001144823.2:c.1333C>A, NM_001144823.1:c.1333C>A, XM_047432089.1:c.1333C>A, XM_047432093.1:c.1333C>A, XM_047432094.1:c.1333C>A, XM_047432096.1:c.1333C>A, XM_047432086.1:c.1333C>A, XM_047432090.1:c.1333C>A, NM_001320835.1:c.1333C>A, XM_047432101.1:c.1333C>A, XM_047432103.1:c.1333C>A, XM_047432087.1:c.1333C>A, XM_047432091.1:c.1333C>A, XM_047432097.1:c.1333C>A, XM_047432088.1:c.1333C>A, XM_047432098.1:c.1333C>A, XM_047432092.1:c.1333C>A, NM_001376919.1:c.1333C>A, XM_047432095.1:c.1333C>A, XM_047432104.1:c.1333C>A, XM_047432100.1:c.1333C>A, NM_001376920.1:c.1333C>A, XM_047432099.1:c.1333C>A, XM_047432102.1:c.1333C>A, XM_047432106.1:c.1333C>A, XP_005254177.1:p.Pro445Thr, NP_005839.3:p.Pro445Thr, XP_011519458.1:p.Pro445Thr, NP_001138295.1:p.Pro445Thr, XP_047288045.1:p.Pro445Thr, XP_047288049.1:p.Pro445Thr, XP_047288050.1:p.Pro445Thr, XP_047288052.1:p.Pro445Thr, XP_047288042.1:p.Pro445Thr, XP_047288046.1:p.Pro445Thr, NP_001307764.1:p.Pro445Thr, XP_047288057.1:p.Pro445Thr, XP_047288059.1:p.Pro445Thr, XP_047288043.1:p.Pro445Thr, XP_047288047.1:p.Pro445Thr, XP_047288053.1:p.Pro445Thr, XP_047288044.1:p.Pro445Thr, XP_047288054.1:p.Pro445Thr, XP_047288048.1:p.Pro445Thr, NP_001363848.1:p.Pro445Thr, XP_047288051.1:p.Pro445Thr, XP_047288060.1:p.Pro445Thr, XP_047288056.1:p.Pro445Thr, NP_001363849.1:p.Pro445Thr, XP_047288055.1:p.Pro445Thr, XP_047288058.1:p.Pro445Thr, XP_047288062.1:p.Pro445Thr

                          13.

                          rs1483119692 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            15:65701123 (GRCh38)
                            15:65993461 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:65701122:C:T
                            Gene:
                            DENND4A (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=0.000004/1 (TOPMED)
                            T=0.000014/2 (GnomAD)
                            HGVS:
                            NC_000015.10:g.65701123C>T, NC_000015.9:g.65993461C>T, XM_005254120.6:c.2629G>A, XM_005254120.5:c.2629G>A, XM_005254120.4:c.2629G>A, XM_005254120.3:c.2629G>A, XM_005254120.2:c.2629G>A, XM_005254120.1:c.2629G>A, NM_005848.4:c.2629G>A, NM_005848.3:c.2629G>A, XM_011521156.4:c.2629G>A, XM_011521156.3:c.2629G>A, XM_011521156.2:c.2629G>A, XM_011521156.1:c.2629G>A, NM_001144823.2:c.2629G>A, NM_001144823.1:c.2629G>A, XM_047432089.1:c.2629G>A, XM_047432093.1:c.2629G>A, XM_047432094.1:c.2629G>A, XM_047432096.1:c.2629G>A, XM_047432086.1:c.2629G>A, XM_047432090.1:c.2629G>A, NM_001320835.1:c.2629G>A, XM_047432101.1:c.2629G>A, XM_047432103.1:c.2629G>A, XM_047432087.1:c.2629G>A, XM_047432091.1:c.2629G>A, XM_047432097.1:c.2629G>A, XM_047432088.1:c.2629G>A, XM_047432098.1:c.2629G>A, XM_047432092.1:c.2629G>A, NM_001376919.1:c.2629G>A, XM_047432095.1:c.2629G>A, XM_047432104.1:c.2629G>A, XM_047432100.1:c.2629G>A, NM_001376920.1:c.2629G>A, XM_047432099.1:c.2629G>A, XM_047432102.1:c.2629G>A, XM_047432105.1:c.1081G>A, XM_047432106.1:c.2629G>A, XP_005254177.1:p.Val877Ile, NP_005839.3:p.Val877Ile, XP_011519458.1:p.Val877Ile, NP_001138295.1:p.Val877Ile, XP_047288045.1:p.Val877Ile, XP_047288049.1:p.Val877Ile, XP_047288050.1:p.Val877Ile, XP_047288052.1:p.Val877Ile, XP_047288042.1:p.Val877Ile, XP_047288046.1:p.Val877Ile, NP_001307764.1:p.Val877Ile, XP_047288057.1:p.Val877Ile, XP_047288059.1:p.Val877Ile, XP_047288043.1:p.Val877Ile, XP_047288047.1:p.Val877Ile, XP_047288053.1:p.Val877Ile, XP_047288044.1:p.Val877Ile, XP_047288054.1:p.Val877Ile, XP_047288048.1:p.Val877Ile, NP_001363848.1:p.Val877Ile, XP_047288051.1:p.Val877Ile, XP_047288060.1:p.Val877Ile, XP_047288056.1:p.Val877Ile, NP_001363849.1:p.Val877Ile, XP_047288055.1:p.Val877Ile, XP_047288058.1:p.Val877Ile, XP_047288061.1:p.Val361Ile, XP_047288062.1:p.Val877Ile

                            14.

                            rs1482354775 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              15:65664583 (GRCh38)
                              15:65956921 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:65664582:C:A,NC_000015.10:65664582:C:T
                              Gene:
                              DENND4A (Varview)
                              Functional Consequence:
                              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              NC_000015.10:g.65664583C>A, NC_000015.10:g.65664583C>T, NC_000015.9:g.65956921C>A, NC_000015.9:g.65956921C>T, XM_005254120.6:c.5499G>T, XM_005254120.6:c.5499G>A, XM_005254120.5:c.5499G>T, XM_005254120.5:c.5499G>A, XM_005254120.4:c.5499G>T, XM_005254120.4:c.5499G>A, XM_005254120.3:c.5499G>T, XM_005254120.3:c.5499G>A, XM_005254120.2:c.5499G>T, XM_005254120.2:c.5499G>A, XM_005254120.1:c.5499G>T, XM_005254120.1:c.5499G>A, NM_005848.4:c.5367G>T, NM_005848.4:c.5367G>A, NM_005848.3:c.5367G>T, NM_005848.3:c.5367G>A, NM_001144823.2:c.5496G>T, NM_001144823.2:c.5496G>A, NM_001144823.1:c.5496G>T, NM_001144823.1:c.5496G>A, XM_047432089.1:c.5526G>T, XM_047432089.1:c.5526G>A, XM_047432093.1:c.5523G>T, XM_047432093.1:c.5523G>A, XM_047432094.1:c.5499G>T, XM_047432094.1:c.5499G>A, XM_047432096.1:c.5496G>T, XM_047432096.1:c.5496G>A, XM_047432086.1:c.5526G>T, XM_047432086.1:c.5526G>A, XM_047432090.1:c.5523G>T, XM_047432090.1:c.5523G>A, NM_001320835.1:c.5499G>T, NM_001320835.1:c.5499G>A, XM_047432101.1:c.5394G>T, XM_047432101.1:c.5394G>A, XM_047432103.1:c.5367G>T, XM_047432103.1:c.5367G>A, XM_047432087.1:c.5526G>T, XM_047432087.1:c.5526G>A, XM_047432091.1:c.5523G>T, XM_047432091.1:c.5523G>A, XM_047432097.1:c.5496G>T, XM_047432097.1:c.5496G>A, XM_047432088.1:c.5526G>T, XM_047432088.1:c.5526G>A, XM_047432098.1:c.5394G>T, XM_047432098.1:c.5394G>A, XM_047432092.1:c.5523G>T, XM_047432092.1:c.5523G>A, NM_001376919.1:c.5367G>T, NM_001376919.1:c.5367G>A, XM_047432095.1:c.5496G>T, XM_047432095.1:c.5496G>A, XM_047432104.1:c.5367G>T, XM_047432104.1:c.5367G>A, XM_047432100.1:c.5394G>T, XM_047432100.1:c.5394G>A, NM_001376920.1:c.5367G>T, NM_001376920.1:c.5367G>A, XM_047432099.1:c.5394G>T, XM_047432099.1:c.5394G>A, XM_047432102.1:c.5367G>T, XM_047432102.1:c.5367G>A, XM_047432105.1:c.3978G>T, XM_047432105.1:c.3978G>A, XP_005254177.1:p.Lys1833Asn, NP_005839.3:p.Lys1789Asn, NP_001138295.1:p.Lys1832Asn, XP_047288045.1:p.Lys1842Asn, XP_047288049.1:p.Lys1841Asn, XP_047288050.1:p.Lys1833Asn, XP_047288052.1:p.Lys1832Asn, XP_047288042.1:p.Lys1842Asn, XP_047288046.1:p.Lys1841Asn, NP_001307764.1:p.Lys1833Asn, XP_047288057.1:p.Lys1798Asn, XP_047288059.1:p.Lys1789Asn, XP_047288043.1:p.Lys1842Asn, XP_047288047.1:p.Lys1841Asn, XP_047288053.1:p.Lys1832Asn, XP_047288044.1:p.Lys1842Asn, XP_047288054.1:p.Lys1798Asn, XP_047288048.1:p.Lys1841Asn, NP_001363848.1:p.Lys1789Asn, XP_047288051.1:p.Lys1832Asn, XP_047288060.1:p.Lys1789Asn, XP_047288056.1:p.Lys1798Asn, NP_001363849.1:p.Lys1789Asn, XP_047288055.1:p.Lys1798Asn, XP_047288058.1:p.Lys1789Asn, XP_047288061.1:p.Lys1326Asn

                              15.

                              rs1481201854 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                15:65701855 (GRCh38)
                                15:65994193 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:65701854:T:C
                                Gene:
                                DENND4A (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000015.10:g.65701855T>C, NC_000015.9:g.65994193T>C, XM_005254120.6:c.2466A>G, XM_005254120.5:c.2466A>G, XM_005254120.4:c.2466A>G, XM_005254120.3:c.2466A>G, XM_005254120.2:c.2466A>G, XM_005254120.1:c.2466A>G, NM_005848.4:c.2466A>G, NM_005848.3:c.2466A>G, XM_011521156.4:c.2466A>G, XM_011521156.3:c.2466A>G, XM_011521156.2:c.2466A>G, XM_011521156.1:c.2466A>G, NM_001144823.2:c.2466A>G, NM_001144823.1:c.2466A>G, XM_047432089.1:c.2466A>G, XM_047432093.1:c.2466A>G, XM_047432094.1:c.2466A>G, XM_047432096.1:c.2466A>G, XM_047432086.1:c.2466A>G, XM_047432090.1:c.2466A>G, NM_001320835.1:c.2466A>G, XM_047432101.1:c.2466A>G, XM_047432103.1:c.2466A>G, XM_047432087.1:c.2466A>G, XM_047432091.1:c.2466A>G, XM_047432097.1:c.2466A>G, XM_047432088.1:c.2466A>G, XM_047432098.1:c.2466A>G, XM_047432092.1:c.2466A>G, NM_001376919.1:c.2466A>G, XM_047432095.1:c.2466A>G, XM_047432104.1:c.2466A>G, XM_047432100.1:c.2466A>G, NM_001376920.1:c.2466A>G, XM_047432099.1:c.2466A>G, XM_047432102.1:c.2466A>G, XM_047432105.1:c.918A>G, XM_047432106.1:c.2466A>G

                                16.

                                rs1480565085 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C,T [Show Flanks]
                                  Chromosome:
                                  15:65690674 (GRCh38)
                                  15:65983012 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:65690673:G:C,NC_000015.10:65690673:G:T
                                  Gene:
                                  DENND4A (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000015.10:g.65690674G>C, NC_000015.10:g.65690674G>T, NC_000015.9:g.65983012G>C, NC_000015.9:g.65983012G>T, XM_005254120.6:c.3920C>G, XM_005254120.6:c.3920C>A, XM_005254120.5:c.3920C>G, XM_005254120.5:c.3920C>A, XM_005254120.4:c.3920C>G, XM_005254120.4:c.3920C>A, XM_005254120.3:c.3920C>G, XM_005254120.3:c.3920C>A, XM_005254120.2:c.3920C>G, XM_005254120.2:c.3920C>A, XM_005254120.1:c.3920C>G, XM_005254120.1:c.3920C>A, NM_005848.4:c.3788C>G, NM_005848.4:c.3788C>A, NM_005848.3:c.3788C>G, NM_005848.3:c.3788C>A, XM_011521156.4:c.3920C>G, XM_011521156.4:c.3920C>A, XM_011521156.3:c.3920C>G, XM_011521156.3:c.3920C>A, XM_011521156.2:c.3920C>G, XM_011521156.2:c.3920C>A, XM_011521156.1:c.3920C>G, XM_011521156.1:c.3920C>A, NM_001144823.2:c.3917C>G, NM_001144823.2:c.3917C>A, NM_001144823.1:c.3917C>G, NM_001144823.1:c.3917C>A, XM_047432089.1:c.3920C>G, XM_047432089.1:c.3920C>A, XM_047432093.1:c.3917C>G, XM_047432093.1:c.3917C>A, XM_047432094.1:c.3920C>G, XM_047432094.1:c.3920C>A, XM_047432096.1:c.3917C>G, XM_047432096.1:c.3917C>A, XM_047432086.1:c.3920C>G, XM_047432086.1:c.3920C>A, XM_047432090.1:c.3917C>G, XM_047432090.1:c.3917C>A, NM_001320835.1:c.3920C>G, NM_001320835.1:c.3920C>A, XM_047432101.1:c.3788C>G, XM_047432101.1:c.3788C>A, XM_047432103.1:c.3788C>G, XM_047432103.1:c.3788C>A, XM_047432087.1:c.3920C>G, XM_047432087.1:c.3920C>A, XM_047432091.1:c.3917C>G, XM_047432091.1:c.3917C>A, XM_047432097.1:c.3917C>G, XM_047432097.1:c.3917C>A, XM_047432088.1:c.3920C>G, XM_047432088.1:c.3920C>A, XM_047432098.1:c.3788C>G, XM_047432098.1:c.3788C>A, XM_047432092.1:c.3917C>G, XM_047432092.1:c.3917C>A, NM_001376919.1:c.3788C>G, NM_001376919.1:c.3788C>A, XM_047432095.1:c.3917C>G, XM_047432095.1:c.3917C>A, XM_047432104.1:c.3788C>G, XM_047432104.1:c.3788C>A, XM_047432100.1:c.3788C>G, XM_047432100.1:c.3788C>A, NM_001376920.1:c.3788C>G, NM_001376920.1:c.3788C>A, XM_047432099.1:c.3788C>G, XM_047432099.1:c.3788C>A, XM_047432102.1:c.3788C>G, XM_047432102.1:c.3788C>A, XM_047432105.1:c.2372C>G, XM_047432105.1:c.2372C>A, XM_047432106.1:c.3788C>G, XM_047432106.1:c.3788C>A, XP_005254177.1:p.Thr1307Ser, XP_005254177.1:p.Thr1307Asn, NP_005839.3:p.Thr1263Ser, NP_005839.3:p.Thr1263Asn, XP_011519458.1:p.Thr1307Ser, XP_011519458.1:p.Thr1307Asn, NP_001138295.1:p.Thr1306Ser, NP_001138295.1:p.Thr1306Asn, XP_047288045.1:p.Thr1307Ser, XP_047288045.1:p.Thr1307Asn, XP_047288049.1:p.Thr1306Ser, XP_047288049.1:p.Thr1306Asn, XP_047288050.1:p.Thr1307Ser, XP_047288050.1:p.Thr1307Asn, XP_047288052.1:p.Thr1306Ser, XP_047288052.1:p.Thr1306Asn, XP_047288042.1:p.Thr1307Ser, XP_047288042.1:p.Thr1307Asn, XP_047288046.1:p.Thr1306Ser, XP_047288046.1:p.Thr1306Asn, NP_001307764.1:p.Thr1307Ser, NP_001307764.1:p.Thr1307Asn, XP_047288057.1:p.Thr1263Ser, XP_047288057.1:p.Thr1263Asn, XP_047288059.1:p.Thr1263Ser, XP_047288059.1:p.Thr1263Asn, XP_047288043.1:p.Thr1307Ser, XP_047288043.1:p.Thr1307Asn, XP_047288047.1:p.Thr1306Ser, XP_047288047.1:p.Thr1306Asn, XP_047288053.1:p.Thr1306Ser, XP_047288053.1:p.Thr1306Asn, XP_047288044.1:p.Thr1307Ser, XP_047288044.1:p.Thr1307Asn, XP_047288054.1:p.Thr1263Ser, XP_047288054.1:p.Thr1263Asn, XP_047288048.1:p.Thr1306Ser, XP_047288048.1:p.Thr1306Asn, NP_001363848.1:p.Thr1263Ser, NP_001363848.1:p.Thr1263Asn, XP_047288051.1:p.Thr1306Ser, XP_047288051.1:p.Thr1306Asn, XP_047288060.1:p.Thr1263Ser, XP_047288060.1:p.Thr1263Asn, XP_047288056.1:p.Thr1263Ser, XP_047288056.1:p.Thr1263Asn, NP_001363849.1:p.Thr1263Ser, NP_001363849.1:p.Thr1263Asn, XP_047288055.1:p.Thr1263Ser, XP_047288055.1:p.Thr1263Asn, XP_047288058.1:p.Thr1263Ser, XP_047288058.1:p.Thr1263Asn, XP_047288061.1:p.Thr791Ser, XP_047288061.1:p.Thr791Asn, XP_047288062.1:p.Thr1263Ser, XP_047288062.1:p.Thr1263Asn

                                  17.

                                  rs1479699950 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    15:65729554 (GRCh38)
                                    15:66021892 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:65729553:C:T
                                    Gene:
                                    DENND4A (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000015.10:g.65729554C>T, NC_000015.9:g.66021892C>T, XM_005254120.6:c.1291G>A, XM_005254120.5:c.1291G>A, XM_005254120.4:c.1291G>A, XM_005254120.3:c.1291G>A, XM_005254120.2:c.1291G>A, XM_005254120.1:c.1291G>A, NM_005848.4:c.1291G>A, NM_005848.3:c.1291G>A, XM_011521156.4:c.1291G>A, XM_011521156.3:c.1291G>A, XM_011521156.2:c.1291G>A, XM_011521156.1:c.1291G>A, NM_001144823.2:c.1291G>A, NM_001144823.1:c.1291G>A, XM_047432089.1:c.1291G>A, XM_047432093.1:c.1291G>A, XM_047432094.1:c.1291G>A, XM_047432096.1:c.1291G>A, XM_047432086.1:c.1291G>A, XM_047432090.1:c.1291G>A, NM_001320835.1:c.1291G>A, XM_047432101.1:c.1291G>A, XM_047432103.1:c.1291G>A, XM_047432087.1:c.1291G>A, XM_047432091.1:c.1291G>A, XM_047432097.1:c.1291G>A, XM_047432088.1:c.1291G>A, XM_047432098.1:c.1291G>A, XM_047432092.1:c.1291G>A, NM_001376919.1:c.1291G>A, XM_047432095.1:c.1291G>A, XM_047432104.1:c.1291G>A, XM_047432100.1:c.1291G>A, NM_001376920.1:c.1291G>A, XM_047432099.1:c.1291G>A, XM_047432102.1:c.1291G>A, XM_047432106.1:c.1291G>A, XP_005254177.1:p.Val431Met, NP_005839.3:p.Val431Met, XP_011519458.1:p.Val431Met, NP_001138295.1:p.Val431Met, XP_047288045.1:p.Val431Met, XP_047288049.1:p.Val431Met, XP_047288050.1:p.Val431Met, XP_047288052.1:p.Val431Met, XP_047288042.1:p.Val431Met, XP_047288046.1:p.Val431Met, NP_001307764.1:p.Val431Met, XP_047288057.1:p.Val431Met, XP_047288059.1:p.Val431Met, XP_047288043.1:p.Val431Met, XP_047288047.1:p.Val431Met, XP_047288053.1:p.Val431Met, XP_047288044.1:p.Val431Met, XP_047288054.1:p.Val431Met, XP_047288048.1:p.Val431Met, NP_001363848.1:p.Val431Met, XP_047288051.1:p.Val431Met, XP_047288060.1:p.Val431Met, XP_047288056.1:p.Val431Met, NP_001363849.1:p.Val431Met, XP_047288055.1:p.Val431Met, XP_047288058.1:p.Val431Met, XP_047288062.1:p.Val431Met

                                    18.

                                    rs1478023420 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      15:65690995 (GRCh38)
                                      15:65983333 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:65690994:T:G
                                      Gene:
                                      DENND4A (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000015.10:g.65690995T>G, NC_000015.9:g.65983333T>G, XM_005254120.6:c.3599A>C, XM_005254120.5:c.3599A>C, XM_005254120.4:c.3599A>C, XM_005254120.3:c.3599A>C, XM_005254120.2:c.3599A>C, XM_005254120.1:c.3599A>C, NM_005848.4:c.3467A>C, NM_005848.3:c.3467A>C, XM_011521156.4:c.3599A>C, XM_011521156.3:c.3599A>C, XM_011521156.2:c.3599A>C, XM_011521156.1:c.3599A>C, NM_001144823.2:c.3596A>C, NM_001144823.1:c.3596A>C, XM_047432089.1:c.3599A>C, XM_047432093.1:c.3596A>C, XM_047432094.1:c.3599A>C, XM_047432096.1:c.3596A>C, XM_047432086.1:c.3599A>C, XM_047432090.1:c.3596A>C, NM_001320835.1:c.3599A>C, XM_047432101.1:c.3467A>C, XM_047432103.1:c.3467A>C, XM_047432087.1:c.3599A>C, XM_047432091.1:c.3596A>C, XM_047432097.1:c.3596A>C, XM_047432088.1:c.3599A>C, XM_047432098.1:c.3467A>C, XM_047432092.1:c.3596A>C, NM_001376919.1:c.3467A>C, XM_047432095.1:c.3596A>C, XM_047432104.1:c.3467A>C, XM_047432100.1:c.3467A>C, NM_001376920.1:c.3467A>C, XM_047432099.1:c.3467A>C, XM_047432102.1:c.3467A>C, XM_047432105.1:c.2051A>C, XM_047432106.1:c.3467A>C, XP_005254177.1:p.Lys1200Thr, NP_005839.3:p.Lys1156Thr, XP_011519458.1:p.Lys1200Thr, NP_001138295.1:p.Lys1199Thr, XP_047288045.1:p.Lys1200Thr, XP_047288049.1:p.Lys1199Thr, XP_047288050.1:p.Lys1200Thr, XP_047288052.1:p.Lys1199Thr, XP_047288042.1:p.Lys1200Thr, XP_047288046.1:p.Lys1199Thr, NP_001307764.1:p.Lys1200Thr, XP_047288057.1:p.Lys1156Thr, XP_047288059.1:p.Lys1156Thr, XP_047288043.1:p.Lys1200Thr, XP_047288047.1:p.Lys1199Thr, XP_047288053.1:p.Lys1199Thr, XP_047288044.1:p.Lys1200Thr, XP_047288054.1:p.Lys1156Thr, XP_047288048.1:p.Lys1199Thr, NP_001363848.1:p.Lys1156Thr, XP_047288051.1:p.Lys1199Thr, XP_047288060.1:p.Lys1156Thr, XP_047288056.1:p.Lys1156Thr, NP_001363849.1:p.Lys1156Thr, XP_047288055.1:p.Lys1156Thr, XP_047288058.1:p.Lys1156Thr, XP_047288061.1:p.Lys684Thr, XP_047288062.1:p.Lys1156Thr

                                      19.

                                      rs1477328599 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        15:65717905 (GRCh38)
                                        15:66010243 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:65717904:C:T
                                        Gene:
                                        DENND4A (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000015.10:g.65717905C>T, NC_000015.9:g.66010243C>T, XM_005254120.6:c.1680G>A, XM_005254120.5:c.1680G>A, XM_005254120.4:c.1680G>A, XM_005254120.3:c.1680G>A, XM_005254120.2:c.1680G>A, XM_005254120.1:c.1680G>A, NM_005848.4:c.1680G>A, NM_005848.3:c.1680G>A, XM_011521156.4:c.1680G>A, XM_011521156.3:c.1680G>A, XM_011521156.2:c.1680G>A, XM_011521156.1:c.1680G>A, NM_001144823.2:c.1680G>A, NM_001144823.1:c.1680G>A, XM_047432089.1:c.1680G>A, XM_047432093.1:c.1680G>A, XM_047432094.1:c.1680G>A, XM_047432096.1:c.1680G>A, XM_047432086.1:c.1680G>A, XM_047432090.1:c.1680G>A, NM_001320835.1:c.1680G>A, XM_047432101.1:c.1680G>A, XM_047432103.1:c.1680G>A, XM_047432087.1:c.1680G>A, XM_047432091.1:c.1680G>A, XM_047432097.1:c.1680G>A, XM_047432088.1:c.1680G>A, XM_047432098.1:c.1680G>A, XM_047432092.1:c.1680G>A, NM_001376919.1:c.1680G>A, XM_047432095.1:c.1680G>A, XM_047432104.1:c.1680G>A, XM_047432100.1:c.1680G>A, NM_001376920.1:c.1680G>A, XM_047432099.1:c.1680G>A, XM_047432102.1:c.1680G>A, XM_047432105.1:c.132G>A, XM_047432106.1:c.1680G>A

                                        20.

                                        rs1477297366 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          15:65702492 (GRCh38)
                                          15:65994830 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:65702491:T:C
                                          Gene:
                                          DENND4A (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          HGVS:
                                          NC_000015.10:g.65702492T>C, NC_000015.9:g.65994830T>C, XM_005254120.6:c.2243A>G, XM_005254120.5:c.2243A>G, XM_005254120.4:c.2243A>G, XM_005254120.3:c.2243A>G, XM_005254120.2:c.2243A>G, XM_005254120.1:c.2243A>G, NM_005848.4:c.2243A>G, NM_005848.3:c.2243A>G, XM_011521156.4:c.2243A>G, XM_011521156.3:c.2243A>G, XM_011521156.2:c.2243A>G, XM_011521156.1:c.2243A>G, NM_001144823.2:c.2243A>G, NM_001144823.1:c.2243A>G, XM_047432089.1:c.2243A>G, XM_047432093.1:c.2243A>G, XM_047432094.1:c.2243A>G, XM_047432096.1:c.2243A>G, XM_047432086.1:c.2243A>G, XM_047432090.1:c.2243A>G, NM_001320835.1:c.2243A>G, XM_047432101.1:c.2243A>G, XM_047432103.1:c.2243A>G, XM_047432087.1:c.2243A>G, XM_047432091.1:c.2243A>G, XM_047432097.1:c.2243A>G, XM_047432088.1:c.2243A>G, XM_047432098.1:c.2243A>G, XM_047432092.1:c.2243A>G, NM_001376919.1:c.2243A>G, XM_047432095.1:c.2243A>G, XM_047432104.1:c.2243A>G, XM_047432100.1:c.2243A>G, NM_001376920.1:c.2243A>G, XM_047432099.1:c.2243A>G, XM_047432102.1:c.2243A>G, XM_047432105.1:c.695A>G, XM_047432106.1:c.2243A>G, XP_005254177.1:p.Lys748Arg, NP_005839.3:p.Lys748Arg, XP_011519458.1:p.Lys748Arg, NP_001138295.1:p.Lys748Arg, XP_047288045.1:p.Lys748Arg, XP_047288049.1:p.Lys748Arg, XP_047288050.1:p.Lys748Arg, XP_047288052.1:p.Lys748Arg, XP_047288042.1:p.Lys748Arg, XP_047288046.1:p.Lys748Arg, NP_001307764.1:p.Lys748Arg, XP_047288057.1:p.Lys748Arg, XP_047288059.1:p.Lys748Arg, XP_047288043.1:p.Lys748Arg, XP_047288047.1:p.Lys748Arg, XP_047288053.1:p.Lys748Arg, XP_047288044.1:p.Lys748Arg, XP_047288054.1:p.Lys748Arg, XP_047288048.1:p.Lys748Arg, NP_001363848.1:p.Lys748Arg, XP_047288051.1:p.Lys748Arg, XP_047288060.1:p.Lys748Arg, XP_047288056.1:p.Lys748Arg, NP_001363849.1:p.Lys748Arg, XP_047288055.1:p.Lys748Arg, XP_047288058.1:p.Lys748Arg, XP_047288061.1:p.Lys232Arg, XP_047288062.1:p.Lys748Arg

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...