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Items: 1 to 20 of 518

1.

rs1490715428 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    13:91693396 (GRCh38)
    13:92345650 (GRCh37)
    Canonical SPDI:
    NC_000013.11:91693395:A:C
    Gene:
    GPC5 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000013.11:g.91693396A>C, NC_000013.10:g.92345650A>C, NG_009370.2:g.299716A>C, NM_004466.6:c.535A>C, NM_004466.5:c.535A>C, NM_004466.4:c.535A>C, XM_011521055.4:c.535A>C, XM_011521055.3:c.535A>C, XM_011521055.2:c.535A>C, XM_011521055.1:c.535A>C, XM_011521056.4:c.535A>C, XM_011521056.3:c.535A>C, XM_011521056.2:c.535A>C, XM_011521056.1:c.535A>C, XM_011521057.4:c.535A>C, XM_011521057.3:c.535A>C, XM_011521057.2:c.535A>C, XM_011521057.1:c.535A>C, XM_011521054.4:c.535A>C, XM_011521054.3:c.535A>C, XM_011521054.2:c.535A>C, XM_011521054.1:c.535A>C, XM_017020436.3:c.535A>C, XM_017020436.2:c.535A>C, XM_017020436.1:c.535A>C, XM_011521058.3:c.535A>C, XM_011521058.2:c.535A>C, XM_011521058.1:c.535A>C, XM_011521060.3:c.535A>C, XM_011521060.2:c.535A>C, XM_011521060.1:c.535A>C, XM_017020435.3:c.535A>C, XM_017020435.2:c.535A>C, XM_017020435.1:c.535A>C, XM_011521059.3:c.535A>C, XM_011521059.2:c.535A>C, XM_011521059.1:c.535A>C, XM_017020437.2:c.535A>C, XM_017020437.1:c.535A>C, XM_047430153.1:c.535A>C, NP_004457.1:p.Ile179Leu, XP_011519357.1:p.Ile179Leu, XP_011519358.1:p.Ile179Leu, XP_011519359.1:p.Ile179Leu, XP_011519356.1:p.Ile179Leu, XP_016875925.1:p.Ile179Leu, XP_011519360.1:p.Ile179Leu, XP_011519362.1:p.Ile179Leu, XP_016875924.1:p.Ile179Leu, XP_011519361.1:p.Ile179Leu, XP_016875926.1:p.Ile179Leu, XP_047286109.1:p.Ile179Leu
    2.

    rs1490426478 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      13:91693805 (GRCh38)
      13:92346059 (GRCh37)
      Canonical SPDI:
      NC_000013.11:91693804:T:G
      Gene:
      GPC5 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      HGVS:
      NC_000013.11:g.91693805T>G, NC_000013.10:g.92346059T>G, NG_009370.2:g.300125T>G, NM_004466.6:c.944T>G, NM_004466.5:c.944T>G, NM_004466.4:c.944T>G, XM_011521055.4:c.944T>G, XM_011521055.3:c.944T>G, XM_011521055.2:c.944T>G, XM_011521055.1:c.944T>G, XM_011521056.4:c.944T>G, XM_011521056.3:c.944T>G, XM_011521056.2:c.944T>G, XM_011521056.1:c.944T>G, XM_011521057.4:c.944T>G, XM_011521057.3:c.944T>G, XM_011521057.2:c.944T>G, XM_011521057.1:c.944T>G, XM_011521054.4:c.944T>G, XM_011521054.3:c.944T>G, XM_011521054.2:c.944T>G, XM_011521054.1:c.944T>G, XM_017020436.3:c.944T>G, XM_017020436.2:c.944T>G, XM_017020436.1:c.944T>G, XM_011521058.3:c.944T>G, XM_011521058.2:c.944T>G, XM_011521058.1:c.944T>G, XM_011521060.3:c.944T>G, XM_011521060.2:c.944T>G, XM_011521060.1:c.944T>G, XM_017020435.3:c.944T>G, XM_017020435.2:c.944T>G, XM_017020435.1:c.944T>G, XM_011521059.3:c.944T>G, XM_011521059.2:c.944T>G, XM_011521059.1:c.944T>G, XM_017020437.2:c.944T>G, XM_017020437.1:c.944T>G, XM_047430153.1:c.944T>G, NP_004457.1:p.Val315Gly, XP_011519357.1:p.Val315Gly, XP_011519358.1:p.Val315Gly, XP_011519359.1:p.Val315Gly, XP_011519356.1:p.Val315Gly, XP_016875925.1:p.Val315Gly, XP_011519360.1:p.Val315Gly, XP_011519362.1:p.Val315Gly, XP_016875924.1:p.Val315Gly, XP_011519361.1:p.Val315Gly, XP_016875926.1:p.Val315Gly, XP_047286109.1:p.Val315Gly
      3.

      rs1489041556 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        13:91756362 (GRCh38)
        13:92408616 (GRCh37)
        Canonical SPDI:
        NC_000013.11:91756361:A:G
        Gene:
        GPC5 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,3_prime_UTR_variant
        Validated:
        by frequency,by cluster
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        G=0.000312/2 (1000Genomes)
        HGVS:
        NC_000013.11:g.91756362A>G, NC_000013.10:g.92408616A>G, NG_009370.2:g.362682A>G, NM_004466.6:c.1222A>G, NM_004466.5:c.1222A>G, NM_004466.4:c.1222A>G, XM_011521055.4:c.1222A>G, XM_011521055.3:c.1222A>G, XM_011521055.2:c.1222A>G, XM_011521055.1:c.1222A>G, XM_011521056.4:c.1222A>G, XM_011521056.3:c.1222A>G, XM_011521056.2:c.1222A>G, XM_011521056.1:c.1222A>G, XM_011521057.4:c.1222A>G, XM_011521057.3:c.1222A>G, XM_011521057.2:c.1222A>G, XM_011521057.1:c.1222A>G, XM_011521054.4:c.1222A>G, XM_011521054.3:c.1222A>G, XM_011521054.2:c.1222A>G, XM_011521054.1:c.1222A>G, XM_017020436.3:c.1222A>G, XM_017020436.2:c.1222A>G, XM_017020436.1:c.1222A>G, XM_011521058.3:c.1222A>G, XM_011521058.2:c.1222A>G, XM_011521058.1:c.1222A>G, XM_011521060.3:c.1222A>G, XM_011521060.2:c.1222A>G, XM_011521060.1:c.1222A>G, XM_017020435.3:c.1222A>G, XM_017020435.2:c.1222A>G, XM_017020435.1:c.1222A>G, XM_011521059.3:c.1222A>G, XM_011521059.2:c.1222A>G, XM_011521059.1:c.1222A>G, XM_017020437.2:c.1222A>G, XM_017020437.1:c.1222A>G, XM_047430153.1:c.*102A>G, NP_004457.1:p.Asn408Asp, XP_011519357.1:p.Asn408Asp, XP_011519358.1:p.Asn408Asp, XP_011519359.1:p.Asn408Asp, XP_011519356.1:p.Asn408Asp, XP_016875925.1:p.Asn408Asp, XP_011519360.1:p.Asn408Asp, XP_011519362.1:p.Asn408Asp, XP_016875924.1:p.Asn408Asp, XP_011519361.1:p.Asn408Asp, XP_016875926.1:p.Asn408Asp
        5.

        rs1483462626 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          13:91399206 (GRCh38)
          13:92051460 (GRCh37)
          Canonical SPDI:
          NC_000013.11:91399205:G:A
          Gene:
          GPC5 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000013.11:g.91399206G>A, NC_000013.10:g.92051460G>A, NG_009370.2:g.5526G>A, NM_004466.6:c.160G>A, NM_004466.5:c.160G>A, NM_004466.4:c.160G>A, XM_011521055.4:c.160G>A, XM_011521055.3:c.160G>A, XM_011521055.2:c.160G>A, XM_011521055.1:c.160G>A, XM_011521056.4:c.160G>A, XM_011521056.3:c.160G>A, XM_011521056.2:c.160G>A, XM_011521056.1:c.160G>A, XM_011521057.4:c.160G>A, XM_011521057.3:c.160G>A, XM_011521057.2:c.160G>A, XM_011521057.1:c.160G>A, XM_011521054.4:c.160G>A, XM_011521054.3:c.160G>A, XM_011521054.2:c.160G>A, XM_011521054.1:c.160G>A, XM_017020436.3:c.160G>A, XM_017020436.2:c.160G>A, XM_017020436.1:c.160G>A, XM_011521058.3:c.160G>A, XM_011521058.2:c.160G>A, XM_011521058.1:c.160G>A, XM_011521060.3:c.160G>A, XM_011521060.2:c.160G>A, XM_011521060.1:c.160G>A, XM_017020435.3:c.160G>A, XM_017020435.2:c.160G>A, XM_017020435.1:c.160G>A, XM_011521059.3:c.160G>A, XM_011521059.2:c.160G>A, XM_011521059.1:c.160G>A, XM_017020437.2:c.160G>A, XM_017020437.1:c.160G>A, XM_047430153.1:c.160G>A, NP_004457.1:p.Ala54Thr, XP_011519357.1:p.Ala54Thr, XP_011519358.1:p.Ala54Thr, XP_011519359.1:p.Ala54Thr, XP_011519356.1:p.Ala54Thr, XP_016875925.1:p.Ala54Thr, XP_011519360.1:p.Ala54Thr, XP_011519362.1:p.Ala54Thr, XP_016875924.1:p.Ala54Thr, XP_011519361.1:p.Ala54Thr, XP_016875926.1:p.Ala54Thr, XP_047286109.1:p.Ala54Thr
          6.

          rs1481221304 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            13:91693327 (GRCh38)
            13:92345581 (GRCh37)
            Canonical SPDI:
            NC_000013.11:91693326:G:C
            Gene:
            GPC5 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000028/1 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000013.11:g.91693327G>C, NC_000013.10:g.92345581G>C, NG_009370.2:g.299647G>C, NM_004466.6:c.466G>C, NM_004466.5:c.466G>C, NM_004466.4:c.466G>C, XM_011521055.4:c.466G>C, XM_011521055.3:c.466G>C, XM_011521055.2:c.466G>C, XM_011521055.1:c.466G>C, XM_011521056.4:c.466G>C, XM_011521056.3:c.466G>C, XM_011521056.2:c.466G>C, XM_011521056.1:c.466G>C, XM_011521057.4:c.466G>C, XM_011521057.3:c.466G>C, XM_011521057.2:c.466G>C, XM_011521057.1:c.466G>C, XM_011521054.4:c.466G>C, XM_011521054.3:c.466G>C, XM_011521054.2:c.466G>C, XM_011521054.1:c.466G>C, XM_017020436.3:c.466G>C, XM_017020436.2:c.466G>C, XM_017020436.1:c.466G>C, XM_011521058.3:c.466G>C, XM_011521058.2:c.466G>C, XM_011521058.1:c.466G>C, XM_011521060.3:c.466G>C, XM_011521060.2:c.466G>C, XM_011521060.1:c.466G>C, XM_017020435.3:c.466G>C, XM_017020435.2:c.466G>C, XM_017020435.1:c.466G>C, XM_011521059.3:c.466G>C, XM_011521059.2:c.466G>C, XM_011521059.1:c.466G>C, XM_017020437.2:c.466G>C, XM_017020437.1:c.466G>C, XM_047430153.1:c.466G>C, NP_004457.1:p.Asp156His, XP_011519357.1:p.Asp156His, XP_011519358.1:p.Asp156His, XP_011519359.1:p.Asp156His, XP_011519356.1:p.Asp156His, XP_016875925.1:p.Asp156His, XP_011519360.1:p.Asp156His, XP_011519362.1:p.Asp156His, XP_016875924.1:p.Asp156His, XP_011519361.1:p.Asp156His, XP_016875926.1:p.Asp156His, XP_047286109.1:p.Asp156His
            7.

            rs1480998702 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              13:91693644 (GRCh38)
              13:92345898 (GRCh37)
              Canonical SPDI:
              NC_000013.11:91693643:C:A
              Gene:
              GPC5 (Varview)
              Functional Consequence:
              coding_sequence_variant,stop_gained
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              A=0.000004/1 (TOPMED)
              HGVS:
              NC_000013.11:g.91693644C>A, NC_000013.10:g.92345898C>A, NG_009370.2:g.299964C>A, NM_004466.6:c.783C>A, NM_004466.5:c.783C>A, NM_004466.4:c.783C>A, XM_011521055.4:c.783C>A, XM_011521055.3:c.783C>A, XM_011521055.2:c.783C>A, XM_011521055.1:c.783C>A, XM_011521056.4:c.783C>A, XM_011521056.3:c.783C>A, XM_011521056.2:c.783C>A, XM_011521056.1:c.783C>A, XM_011521057.4:c.783C>A, XM_011521057.3:c.783C>A, XM_011521057.2:c.783C>A, XM_011521057.1:c.783C>A, XM_011521054.4:c.783C>A, XM_011521054.3:c.783C>A, XM_011521054.2:c.783C>A, XM_011521054.1:c.783C>A, XM_017020436.3:c.783C>A, XM_017020436.2:c.783C>A, XM_017020436.1:c.783C>A, XM_011521058.3:c.783C>A, XM_011521058.2:c.783C>A, XM_011521058.1:c.783C>A, XM_011521060.3:c.783C>A, XM_011521060.2:c.783C>A, XM_011521060.1:c.783C>A, XM_017020435.3:c.783C>A, XM_017020435.2:c.783C>A, XM_017020435.1:c.783C>A, XM_011521059.3:c.783C>A, XM_011521059.2:c.783C>A, XM_011521059.1:c.783C>A, XM_017020437.2:c.783C>A, XM_017020437.1:c.783C>A, XM_047430153.1:c.783C>A, NP_004457.1:p.Cys261Ter, XP_011519357.1:p.Cys261Ter, XP_011519358.1:p.Cys261Ter, XP_011519359.1:p.Cys261Ter, XP_011519356.1:p.Cys261Ter, XP_016875925.1:p.Cys261Ter, XP_011519360.1:p.Cys261Ter, XP_011519362.1:p.Cys261Ter, XP_016875924.1:p.Cys261Ter, XP_011519361.1:p.Cys261Ter, XP_016875926.1:p.Cys261Ter, XP_047286109.1:p.Cys261Ter
              8.

              rs1480895338 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                13:91448898 (GRCh38)
                13:92101152 (GRCh37)
                Canonical SPDI:
                NC_000013.11:91448897:T:C
                Gene:
                GPC5 (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)
                HGVS:
                NC_000013.11:g.91448898T>C, NC_000013.10:g.92101152T>C, NG_009370.2:g.55218T>C, NM_004466.6:c.301T>C, NM_004466.5:c.301T>C, NM_004466.4:c.301T>C, XM_011521055.4:c.301T>C, XM_011521055.3:c.301T>C, XM_011521055.2:c.301T>C, XM_011521055.1:c.301T>C, XM_011521056.4:c.301T>C, XM_011521056.3:c.301T>C, XM_011521056.2:c.301T>C, XM_011521056.1:c.301T>C, XM_011521057.4:c.301T>C, XM_011521057.3:c.301T>C, XM_011521057.2:c.301T>C, XM_011521057.1:c.301T>C, XM_011521054.4:c.301T>C, XM_011521054.3:c.301T>C, XM_011521054.2:c.301T>C, XM_011521054.1:c.301T>C, XM_017020436.3:c.301T>C, XM_017020436.2:c.301T>C, XM_017020436.1:c.301T>C, XM_011521058.3:c.301T>C, XM_011521058.2:c.301T>C, XM_011521058.1:c.301T>C, XM_011521060.3:c.301T>C, XM_011521060.2:c.301T>C, XM_011521060.1:c.301T>C, XM_017020435.3:c.301T>C, XM_017020435.2:c.301T>C, XM_017020435.1:c.301T>C, XM_011521059.3:c.301T>C, XM_011521059.2:c.301T>C, XM_011521059.1:c.301T>C, XM_017020437.2:c.301T>C, XM_017020437.1:c.301T>C, XM_047430153.1:c.301T>C, NP_004457.1:p.Ser101Pro, XP_011519357.1:p.Ser101Pro, XP_011519358.1:p.Ser101Pro, XP_011519359.1:p.Ser101Pro, XP_011519356.1:p.Ser101Pro, XP_016875925.1:p.Ser101Pro, XP_011519360.1:p.Ser101Pro, XP_011519362.1:p.Ser101Pro, XP_016875924.1:p.Ser101Pro, XP_011519361.1:p.Ser101Pro, XP_016875926.1:p.Ser101Pro, XP_047286109.1:p.Ser101Pro
                9.

                rs1480324054 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  13:91448881 (GRCh38)
                  13:92101135 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:91448880:C:T
                  Gene:
                  GPC5 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0.000031/1 (ALFA)
                  T=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  NC_000013.11:g.91448881C>T, NC_000013.10:g.92101135C>T, NG_009370.2:g.55201C>T, NM_004466.6:c.284C>T, NM_004466.5:c.284C>T, NM_004466.4:c.284C>T, XM_011521055.4:c.284C>T, XM_011521055.3:c.284C>T, XM_011521055.2:c.284C>T, XM_011521055.1:c.284C>T, XM_011521056.4:c.284C>T, XM_011521056.3:c.284C>T, XM_011521056.2:c.284C>T, XM_011521056.1:c.284C>T, XM_011521057.4:c.284C>T, XM_011521057.3:c.284C>T, XM_011521057.2:c.284C>T, XM_011521057.1:c.284C>T, XM_011521054.4:c.284C>T, XM_011521054.3:c.284C>T, XM_011521054.2:c.284C>T, XM_011521054.1:c.284C>T, XM_017020436.3:c.284C>T, XM_017020436.2:c.284C>T, XM_017020436.1:c.284C>T, XM_011521058.3:c.284C>T, XM_011521058.2:c.284C>T, XM_011521058.1:c.284C>T, XM_011521060.3:c.284C>T, XM_011521060.2:c.284C>T, XM_011521060.1:c.284C>T, XM_017020435.3:c.284C>T, XM_017020435.2:c.284C>T, XM_017020435.1:c.284C>T, XM_011521059.3:c.284C>T, XM_011521059.2:c.284C>T, XM_011521059.1:c.284C>T, XM_017020437.2:c.284C>T, XM_017020437.1:c.284C>T, XM_047430153.1:c.284C>T, NP_004457.1:p.Thr95Ile, XP_011519357.1:p.Thr95Ile, XP_011519358.1:p.Thr95Ile, XP_011519359.1:p.Thr95Ile, XP_011519356.1:p.Thr95Ile, XP_016875925.1:p.Thr95Ile, XP_011519360.1:p.Thr95Ile, XP_011519362.1:p.Thr95Ile, XP_016875924.1:p.Thr95Ile, XP_011519361.1:p.Thr95Ile, XP_016875926.1:p.Thr95Ile, XP_047286109.1:p.Thr95Ile
                  10.

                  rs1479252782 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    13:91399165 (GRCh38)
                    13:92051419 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:91399164:G:T
                    Gene:
                    GPC5 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000013.11:g.91399165G>T, NC_000013.10:g.92051419G>T, NG_009370.2:g.5485G>T, NM_004466.6:c.119G>T, NM_004466.5:c.119G>T, NM_004466.4:c.119G>T, XM_011521055.4:c.119G>T, XM_011521055.3:c.119G>T, XM_011521055.2:c.119G>T, XM_011521055.1:c.119G>T, XM_011521056.4:c.119G>T, XM_011521056.3:c.119G>T, XM_011521056.2:c.119G>T, XM_011521056.1:c.119G>T, XM_011521057.4:c.119G>T, XM_011521057.3:c.119G>T, XM_011521057.2:c.119G>T, XM_011521057.1:c.119G>T, XM_011521054.4:c.119G>T, XM_011521054.3:c.119G>T, XM_011521054.2:c.119G>T, XM_011521054.1:c.119G>T, XM_017020436.3:c.119G>T, XM_017020436.2:c.119G>T, XM_017020436.1:c.119G>T, XM_011521058.3:c.119G>T, XM_011521058.2:c.119G>T, XM_011521058.1:c.119G>T, XM_011521060.3:c.119G>T, XM_011521060.2:c.119G>T, XM_011521060.1:c.119G>T, XM_017020435.3:c.119G>T, XM_017020435.2:c.119G>T, XM_017020435.1:c.119G>T, XM_011521059.3:c.119G>T, XM_011521059.2:c.119G>T, XM_011521059.1:c.119G>T, XM_017020437.2:c.119G>T, XM_017020437.1:c.119G>T, XM_047430153.1:c.119G>T, NP_004457.1:p.Arg40Leu, XP_011519357.1:p.Arg40Leu, XP_011519358.1:p.Arg40Leu, XP_011519359.1:p.Arg40Leu, XP_011519356.1:p.Arg40Leu, XP_016875925.1:p.Arg40Leu, XP_011519360.1:p.Arg40Leu, XP_011519362.1:p.Arg40Leu, XP_016875924.1:p.Arg40Leu, XP_011519361.1:p.Arg40Leu, XP_016875926.1:p.Arg40Leu, XP_047286109.1:p.Arg40Leu
                    11.

                    rs1476892979 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      13:91399087 (GRCh38)
                      13:92051341 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:91399086:T:C
                      Gene:
                      GPC5 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000013.11:g.91399087T>C, NC_000013.10:g.92051341T>C, NG_009370.2:g.5407T>C, NM_004466.6:c.41T>C, NM_004466.5:c.41T>C, NM_004466.4:c.41T>C, XM_011521055.4:c.41T>C, XM_011521055.3:c.41T>C, XM_011521055.2:c.41T>C, XM_011521055.1:c.41T>C, XM_011521056.4:c.41T>C, XM_011521056.3:c.41T>C, XM_011521056.2:c.41T>C, XM_011521056.1:c.41T>C, XM_011521057.4:c.41T>C, XM_011521057.3:c.41T>C, XM_011521057.2:c.41T>C, XM_011521057.1:c.41T>C, XM_011521054.4:c.41T>C, XM_011521054.3:c.41T>C, XM_011521054.2:c.41T>C, XM_011521054.1:c.41T>C, XM_017020436.3:c.41T>C, XM_017020436.2:c.41T>C, XM_017020436.1:c.41T>C, XM_011521058.3:c.41T>C, XM_011521058.2:c.41T>C, XM_011521058.1:c.41T>C, XM_011521060.3:c.41T>C, XM_011521060.2:c.41T>C, XM_011521060.1:c.41T>C, XM_017020435.3:c.41T>C, XM_017020435.2:c.41T>C, XM_017020435.1:c.41T>C, XM_011521059.3:c.41T>C, XM_011521059.2:c.41T>C, XM_011521059.1:c.41T>C, XM_017020437.2:c.41T>C, XM_017020437.1:c.41T>C, XM_047430153.1:c.41T>C, NP_004457.1:p.Leu14Pro, XP_011519357.1:p.Leu14Pro, XP_011519358.1:p.Leu14Pro, XP_011519359.1:p.Leu14Pro, XP_011519356.1:p.Leu14Pro, XP_016875925.1:p.Leu14Pro, XP_011519360.1:p.Leu14Pro, XP_011519362.1:p.Leu14Pro, XP_016875924.1:p.Leu14Pro, XP_011519361.1:p.Leu14Pro, XP_016875926.1:p.Leu14Pro, XP_047286109.1:p.Leu14Pro
                      12.

                      rs1472207179 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        13:91693820 (GRCh38)
                        13:92346074 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:91693819:A:G
                        Gene:
                        GPC5 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000013.11:g.91693820A>G, NC_000013.10:g.92346074A>G, NG_009370.2:g.300140A>G, NM_004466.6:c.959A>G, NM_004466.5:c.959A>G, NM_004466.4:c.959A>G, XM_011521055.4:c.959A>G, XM_011521055.3:c.959A>G, XM_011521055.2:c.959A>G, XM_011521055.1:c.959A>G, XM_011521056.4:c.959A>G, XM_011521056.3:c.959A>G, XM_011521056.2:c.959A>G, XM_011521056.1:c.959A>G, XM_011521057.4:c.959A>G, XM_011521057.3:c.959A>G, XM_011521057.2:c.959A>G, XM_011521057.1:c.959A>G, XM_011521054.4:c.959A>G, XM_011521054.3:c.959A>G, XM_011521054.2:c.959A>G, XM_011521054.1:c.959A>G, XM_017020436.3:c.959A>G, XM_017020436.2:c.959A>G, XM_017020436.1:c.959A>G, XM_011521058.3:c.959A>G, XM_011521058.2:c.959A>G, XM_011521058.1:c.959A>G, XM_011521060.3:c.959A>G, XM_011521060.2:c.959A>G, XM_011521060.1:c.959A>G, XM_017020435.3:c.959A>G, XM_017020435.2:c.959A>G, XM_017020435.1:c.959A>G, XM_011521059.3:c.959A>G, XM_011521059.2:c.959A>G, XM_011521059.1:c.959A>G, XM_017020437.2:c.959A>G, XM_017020437.1:c.959A>G, XM_047430153.1:c.959A>G, NP_004457.1:p.His320Arg, XP_011519357.1:p.His320Arg, XP_011519358.1:p.His320Arg, XP_011519359.1:p.His320Arg, XP_011519356.1:p.His320Arg, XP_016875925.1:p.His320Arg, XP_011519360.1:p.His320Arg, XP_011519362.1:p.His320Arg, XP_016875924.1:p.His320Arg, XP_011519361.1:p.His320Arg, XP_016875926.1:p.His320Arg, XP_047286109.1:p.His320Arg
                        13.

                        rs1467990646 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          13:91399081 (GRCh38)
                          13:92051335 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:91399080:G:A,NC_000013.11:91399080:G:T
                          Gene:
                          GPC5 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000005/1 (GnomAD_exomes)
                          HGVS:
                          NC_000013.11:g.91399081G>A, NC_000013.11:g.91399081G>T, NC_000013.10:g.92051335G>A, NC_000013.10:g.92051335G>T, NG_009370.2:g.5401G>A, NG_009370.2:g.5401G>T, NM_004466.6:c.35G>A, NM_004466.6:c.35G>T, NM_004466.5:c.35G>A, NM_004466.5:c.35G>T, NM_004466.4:c.35G>A, NM_004466.4:c.35G>T, XM_011521055.4:c.35G>A, XM_011521055.4:c.35G>T, XM_011521055.3:c.35G>A, XM_011521055.3:c.35G>T, XM_011521055.2:c.35G>A, XM_011521055.2:c.35G>T, XM_011521055.1:c.35G>A, XM_011521055.1:c.35G>T, XM_011521056.4:c.35G>A, XM_011521056.4:c.35G>T, XM_011521056.3:c.35G>A, XM_011521056.3:c.35G>T, XM_011521056.2:c.35G>A, XM_011521056.2:c.35G>T, XM_011521056.1:c.35G>A, XM_011521056.1:c.35G>T, XM_011521057.4:c.35G>A, XM_011521057.4:c.35G>T, XM_011521057.3:c.35G>A, XM_011521057.3:c.35G>T, XM_011521057.2:c.35G>A, XM_011521057.2:c.35G>T, XM_011521057.1:c.35G>A, XM_011521057.1:c.35G>T, XM_011521054.4:c.35G>A, XM_011521054.4:c.35G>T, XM_011521054.3:c.35G>A, XM_011521054.3:c.35G>T, XM_011521054.2:c.35G>A, XM_011521054.2:c.35G>T, XM_011521054.1:c.35G>A, XM_011521054.1:c.35G>T, XM_017020436.3:c.35G>A, XM_017020436.3:c.35G>T, XM_017020436.2:c.35G>A, XM_017020436.2:c.35G>T, XM_017020436.1:c.35G>A, XM_017020436.1:c.35G>T, XM_011521058.3:c.35G>A, XM_011521058.3:c.35G>T, XM_011521058.2:c.35G>A, XM_011521058.2:c.35G>T, XM_011521058.1:c.35G>A, XM_011521058.1:c.35G>T, XM_011521060.3:c.35G>A, XM_011521060.3:c.35G>T, XM_011521060.2:c.35G>A, XM_011521060.2:c.35G>T, XM_011521060.1:c.35G>A, XM_011521060.1:c.35G>T, XM_017020435.3:c.35G>A, XM_017020435.3:c.35G>T, XM_017020435.2:c.35G>A, XM_017020435.2:c.35G>T, XM_017020435.1:c.35G>A, XM_017020435.1:c.35G>T, XM_011521059.3:c.35G>A, XM_011521059.3:c.35G>T, XM_011521059.2:c.35G>A, XM_011521059.2:c.35G>T, XM_011521059.1:c.35G>A, XM_011521059.1:c.35G>T, XM_017020437.2:c.35G>A, XM_017020437.2:c.35G>T, XM_017020437.1:c.35G>A, XM_017020437.1:c.35G>T, XM_047430153.1:c.35G>A, XM_047430153.1:c.35G>T, NP_004457.1:p.Cys12Tyr, NP_004457.1:p.Cys12Phe, XP_011519357.1:p.Cys12Tyr, XP_011519357.1:p.Cys12Phe, XP_011519358.1:p.Cys12Tyr, XP_011519358.1:p.Cys12Phe, XP_011519359.1:p.Cys12Tyr, XP_011519359.1:p.Cys12Phe, XP_011519356.1:p.Cys12Tyr, XP_011519356.1:p.Cys12Phe, XP_016875925.1:p.Cys12Tyr, XP_016875925.1:p.Cys12Phe, XP_011519360.1:p.Cys12Tyr, XP_011519360.1:p.Cys12Phe, XP_011519362.1:p.Cys12Tyr, XP_011519362.1:p.Cys12Phe, XP_016875924.1:p.Cys12Tyr, XP_016875924.1:p.Cys12Phe, XP_011519361.1:p.Cys12Tyr, XP_011519361.1:p.Cys12Phe, XP_016875926.1:p.Cys12Tyr, XP_016875926.1:p.Cys12Phe, XP_047286109.1:p.Cys12Tyr, XP_047286109.1:p.Cys12Phe
                          14.

                          rs1466524162 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            13:91693628 (GRCh38)
                            13:92345882 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:91693627:A:C
                            Gene:
                            GPC5 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000013.11:g.91693628A>C, NC_000013.10:g.92345882A>C, NG_009370.2:g.299948A>C, NM_004466.6:c.767A>C, NM_004466.5:c.767A>C, NM_004466.4:c.767A>C, XM_011521055.4:c.767A>C, XM_011521055.3:c.767A>C, XM_011521055.2:c.767A>C, XM_011521055.1:c.767A>C, XM_011521056.4:c.767A>C, XM_011521056.3:c.767A>C, XM_011521056.2:c.767A>C, XM_011521056.1:c.767A>C, XM_011521057.4:c.767A>C, XM_011521057.3:c.767A>C, XM_011521057.2:c.767A>C, XM_011521057.1:c.767A>C, XM_011521054.4:c.767A>C, XM_011521054.3:c.767A>C, XM_011521054.2:c.767A>C, XM_011521054.1:c.767A>C, XM_017020436.3:c.767A>C, XM_017020436.2:c.767A>C, XM_017020436.1:c.767A>C, XM_011521058.3:c.767A>C, XM_011521058.2:c.767A>C, XM_011521058.1:c.767A>C, XM_011521060.3:c.767A>C, XM_011521060.2:c.767A>C, XM_011521060.1:c.767A>C, XM_017020435.3:c.767A>C, XM_017020435.2:c.767A>C, XM_017020435.1:c.767A>C, XM_011521059.3:c.767A>C, XM_011521059.2:c.767A>C, XM_011521059.1:c.767A>C, XM_017020437.2:c.767A>C, XM_017020437.1:c.767A>C, XM_047430153.1:c.767A>C, NP_004457.1:p.Gln256Pro, XP_011519357.1:p.Gln256Pro, XP_011519358.1:p.Gln256Pro, XP_011519359.1:p.Gln256Pro, XP_011519356.1:p.Gln256Pro, XP_016875925.1:p.Gln256Pro, XP_011519360.1:p.Gln256Pro, XP_011519362.1:p.Gln256Pro, XP_016875924.1:p.Gln256Pro, XP_011519361.1:p.Gln256Pro, XP_016875926.1:p.Gln256Pro, XP_047286109.1:p.Gln256Pro
                            17.

                            rs1461132185 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TGGCCC>- [Show Flanks]
                              Chromosome:
                              13:91399062 (GRCh38)
                              13:92051316 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:91399059:CCTGGCCC:CC
                              Gene:
                              GPC5 (Varview)
                              Functional Consequence:
                              inframe_deletion,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              CC=0./0 (ALFA)
                              -=0./0 (GnomAD)
                              -=0.000004/1 (TOPMED)
                              -=0.000006/1 (GnomAD_exomes)
                              HGVS:
                              NC_000013.11:g.91399062_91399067del, NC_000013.10:g.92051316_92051321del, NG_009370.2:g.5382_5387del, NM_004466.6:c.16_21del, NM_004466.5:c.16_21del, NM_004466.4:c.16_21del, XM_011521055.4:c.16_21del, XM_011521055.3:c.16_21del, XM_011521055.2:c.16_21del, XM_011521055.1:c.16_21del, XM_011521056.4:c.16_21del, XM_011521056.3:c.16_21del, XM_011521056.2:c.16_21del, XM_011521056.1:c.16_21del, XM_011521057.4:c.16_21del, XM_011521057.3:c.16_21del, XM_011521057.2:c.16_21del, XM_011521057.1:c.16_21del, XM_011521054.4:c.16_21del, XM_011521054.3:c.16_21del, XM_011521054.2:c.16_21del, XM_011521054.1:c.16_21del, XM_017020436.3:c.16_21del, XM_017020436.2:c.16_21del, XM_017020436.1:c.16_21del, XM_011521058.3:c.16_21del, XM_011521058.2:c.16_21del, XM_011521058.1:c.16_21del, XM_011521060.3:c.16_21del, XM_011521060.2:c.16_21del, XM_011521060.1:c.16_21del, XM_017020435.3:c.16_21del, XM_017020435.2:c.16_21del, XM_017020435.1:c.16_21del, XM_011521059.3:c.16_21del, XM_011521059.2:c.16_21del, XM_011521059.1:c.16_21del, XM_017020437.2:c.16_21del, XM_017020437.1:c.16_21del, XM_047430153.1:c.16_21del, NP_004457.1:p.Trp6_Pro7del, XP_011519357.1:p.Trp6_Pro7del, XP_011519358.1:p.Trp6_Pro7del, XP_011519359.1:p.Trp6_Pro7del, XP_011519356.1:p.Trp6_Pro7del, XP_016875925.1:p.Trp6_Pro7del, XP_011519360.1:p.Trp6_Pro7del, XP_011519362.1:p.Trp6_Pro7del, XP_016875924.1:p.Trp6_Pro7del, XP_011519361.1:p.Trp6_Pro7del, XP_016875926.1:p.Trp6_Pro7del, XP_047286109.1:p.Trp6_Pro7del
                              18.

                              rs1459035228 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                13:91448811 (GRCh38)
                                13:92101065 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:91448810:A:C
                                Gene:
                                GPC5 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000013.11:g.91448811A>C, NC_000013.10:g.92101065A>C, NG_009370.2:g.55131A>C, NM_004466.6:c.214A>C, NM_004466.5:c.214A>C, NM_004466.4:c.214A>C, XM_011521055.4:c.214A>C, XM_011521055.3:c.214A>C, XM_011521055.2:c.214A>C, XM_011521055.1:c.214A>C, XM_011521056.4:c.214A>C, XM_011521056.3:c.214A>C, XM_011521056.2:c.214A>C, XM_011521056.1:c.214A>C, XM_011521057.4:c.214A>C, XM_011521057.3:c.214A>C, XM_011521057.2:c.214A>C, XM_011521057.1:c.214A>C, XM_011521054.4:c.214A>C, XM_011521054.3:c.214A>C, XM_011521054.2:c.214A>C, XM_011521054.1:c.214A>C, XM_017020436.3:c.214A>C, XM_017020436.2:c.214A>C, XM_017020436.1:c.214A>C, XM_011521058.3:c.214A>C, XM_011521058.2:c.214A>C, XM_011521058.1:c.214A>C, XM_011521060.3:c.214A>C, XM_011521060.2:c.214A>C, XM_011521060.1:c.214A>C, XM_017020435.3:c.214A>C, XM_017020435.2:c.214A>C, XM_017020435.1:c.214A>C, XM_011521059.3:c.214A>C, XM_011521059.2:c.214A>C, XM_011521059.1:c.214A>C, XM_017020437.2:c.214A>C, XM_017020437.1:c.214A>C, XM_047430153.1:c.214A>C, NP_004457.1:p.Lys72Gln, XP_011519357.1:p.Lys72Gln, XP_011519358.1:p.Lys72Gln, XP_011519359.1:p.Lys72Gln, XP_011519356.1:p.Lys72Gln, XP_016875925.1:p.Lys72Gln, XP_011519360.1:p.Lys72Gln, XP_011519362.1:p.Lys72Gln, XP_016875924.1:p.Lys72Gln, XP_011519361.1:p.Lys72Gln, XP_016875926.1:p.Lys72Gln, XP_047286109.1:p.Lys72Gln
                                19.

                                rs1457495489 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AGAAAATTACAC>- [Show Flanks]
                                  Chromosome:
                                  13:91693215 (GRCh38)
                                  13:92345469 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:91693213:CAGAAAATTACAC:C
                                  Gene:
                                  GPC5 (Varview)
                                  Functional Consequence:
                                  inframe_deletion,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.0002/1 (ALFA)
                                  -=0.0002/1 (Estonian)
                                  HGVS:
                                  NC_000013.11:g.91693215_91693226del, NC_000013.10:g.92345469_92345480del, NG_009370.2:g.299535_299546del, NM_004466.6:c.354_365del, NM_004466.5:c.354_365del, NM_004466.4:c.354_365del, XM_011521055.4:c.354_365del, XM_011521055.3:c.354_365del, XM_011521055.2:c.354_365del, XM_011521055.1:c.354_365del, XM_011521056.4:c.354_365del, XM_011521056.3:c.354_365del, XM_011521056.2:c.354_365del, XM_011521056.1:c.354_365del, XM_011521057.4:c.354_365del, XM_011521057.3:c.354_365del, XM_011521057.2:c.354_365del, XM_011521057.1:c.354_365del, XM_011521054.4:c.354_365del, XM_011521054.3:c.354_365del, XM_011521054.2:c.354_365del, XM_011521054.1:c.354_365del, XM_017020436.3:c.354_365del, XM_017020436.2:c.354_365del, XM_017020436.1:c.354_365del, XM_011521058.3:c.354_365del, XM_011521058.2:c.354_365del, XM_011521058.1:c.354_365del, XM_011521060.3:c.354_365del, XM_011521060.2:c.354_365del, XM_011521060.1:c.354_365del, XM_017020435.3:c.354_365del, XM_017020435.2:c.354_365del, XM_017020435.1:c.354_365del, XM_011521059.3:c.354_365del, XM_011521059.2:c.354_365del, XM_011521059.1:c.354_365del, XM_017020437.2:c.354_365del, XM_017020437.1:c.354_365del, XM_047430153.1:c.354_365del, NP_004457.1:p.Glu119_Thr122del, XP_011519357.1:p.Glu119_Thr122del, XP_011519358.1:p.Glu119_Thr122del, XP_011519359.1:p.Glu119_Thr122del, XP_011519356.1:p.Glu119_Thr122del, XP_016875925.1:p.Glu119_Thr122del, XP_011519360.1:p.Glu119_Thr122del, XP_011519362.1:p.Glu119_Thr122del, XP_016875924.1:p.Glu119_Thr122del, XP_011519361.1:p.Glu119_Thr122del, XP_016875926.1:p.Glu119_Thr122del, XP_047286109.1:p.Glu119_Thr122del
                                  20.

                                  rs1456569867 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    13:91693490 (GRCh38)
                                    13:92345744 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:91693489:G:A
                                    Gene:
                                    GPC5 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000013.11:g.91693490G>A, NC_000013.10:g.92345744G>A, NG_009370.2:g.299810G>A, NM_004466.6:c.629G>A, NM_004466.5:c.629G>A, NM_004466.4:c.629G>A, XM_011521055.4:c.629G>A, XM_011521055.3:c.629G>A, XM_011521055.2:c.629G>A, XM_011521055.1:c.629G>A, XM_011521056.4:c.629G>A, XM_011521056.3:c.629G>A, XM_011521056.2:c.629G>A, XM_011521056.1:c.629G>A, XM_011521057.4:c.629G>A, XM_011521057.3:c.629G>A, XM_011521057.2:c.629G>A, XM_011521057.1:c.629G>A, XM_011521054.4:c.629G>A, XM_011521054.3:c.629G>A, XM_011521054.2:c.629G>A, XM_011521054.1:c.629G>A, XM_017020436.3:c.629G>A, XM_017020436.2:c.629G>A, XM_017020436.1:c.629G>A, XM_011521058.3:c.629G>A, XM_011521058.2:c.629G>A, XM_011521058.1:c.629G>A, XM_011521060.3:c.629G>A, XM_011521060.2:c.629G>A, XM_011521060.1:c.629G>A, XM_017020435.3:c.629G>A, XM_017020435.2:c.629G>A, XM_017020435.1:c.629G>A, XM_011521059.3:c.629G>A, XM_011521059.2:c.629G>A, XM_011521059.1:c.629G>A, XM_017020437.2:c.629G>A, XM_017020437.1:c.629G>A, XM_047430153.1:c.629G>A, NP_004457.1:p.Arg210Lys, XP_011519357.1:p.Arg210Lys, XP_011519358.1:p.Arg210Lys, XP_011519359.1:p.Arg210Lys, XP_011519356.1:p.Arg210Lys, XP_016875925.1:p.Arg210Lys, XP_011519360.1:p.Arg210Lys, XP_011519362.1:p.Arg210Lys, XP_016875924.1:p.Arg210Lys, XP_011519361.1:p.Arg210Lys, XP_016875926.1:p.Arg210Lys, XP_047286109.1:p.Arg210Lys

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