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Items: 1 to 20 of 677

1.

rs1490928914 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    14:104095563 (GRCh38)
    14:104561900 (GRCh37)
    Canonical SPDI:
    NC_000014.9:104095562:C:T
    Gene:
    ASPG (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0.000047/1 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000014.9:g.104095563C>T, NC_000014.8:g.104561900C>T, XM_005267590.5:c.336C>T, XM_005267590.4:c.336C>T, XM_005267590.3:c.336C>T, XM_005267590.2:c.336C>T, XM_005267590.1:c.336C>T, NM_001080464.3:c.336C>T, NM_001080464.2:c.336C>T, XM_017021274.2:c.207C>T, XM_017021274.1:c.207C>T, XM_017021267.2:c.420C>T, XM_017021267.1:c.420C>T, XM_017021273.2:c.420C>T, XM_017021273.1:c.420C>T, XM_017021268.2:c.336C>T, XM_017021268.1:c.336C>T, XM_017021276.2:c.420C>T, XM_017021276.1:c.420C>T, XM_017021266.2:c.420C>T, XM_017021266.1:c.420C>T, XM_017021272.2:c.420C>T, XM_017021272.1:c.420C>T, XM_017021275.2:c.420C>T, XM_017021275.1:c.420C>T, XM_017021265.1:c.420C>T, XM_017021269.1:c.420C>T, XM_017021270.1:c.420C>T, XM_017021271.1:c.420C>T, XM_047431356.1:c.336C>T, XM_047431355.1:c.420C>T, XM_047431357.1:c.336C>T, NM_001411060.1:c.336C>T

    2.

    rs1490493492 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      G>- [Show Flanks]
      Chromosome:
      14:104107230 (GRCh38)
      14:104573567 (GRCh37)
      Canonical SPDI:
      NC_000014.9:104107229:G:
      Gene:
      ASPG (Varview)
      Functional Consequence:
      coding_sequence_variant,frameshift_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.000004/1 (GnomAD_exomes)
      -=0.000004/1 (TOPMED)
      -=0.000007/1 (GnomAD)
      HGVS:
      NC_000014.9:g.104107230del, NC_000014.8:g.104573567del, XM_005267590.5:c.1318del, XM_005267590.4:c.1318del, XM_005267590.3:c.1318del, XM_005267590.2:c.1318del, XM_005267590.1:c.1318del, NM_001080464.3:c.1318del, NM_001080464.2:c.1318del, XM_017021274.2:c.1189del, XM_017021274.1:c.1189del, XM_017021267.2:c.1402del, XM_017021267.1:c.1402del, XM_017021273.2:c.1402del, XM_017021273.1:c.1402del, XM_017021268.2:c.1318del, XM_017021268.1:c.1318del, XM_017021276.2:c.1402del, XM_017021276.1:c.1402del, XM_017021266.2:c.1402del, XM_017021266.1:c.1402del, XM_017021272.2:c.1402del, XM_017021272.1:c.1402del, XM_017021275.2:c.1402del, XM_017021275.1:c.1402del, XM_017021265.1:c.1402del, XM_017021269.1:c.1306del, XM_017021270.1:c.1402del, XM_017021271.1:c.1402del, XM_047431356.1:c.1318del, XM_047431355.1:c.1402del, XM_047431357.1:c.1318del, NM_001411060.1:c.1318del, XP_005267647.1:p.Ala440fs, NP_001073933.2:p.Ala440fs, XP_016876763.1:p.Ala397fs, XP_016876756.1:p.Ala468fs, XP_016876762.1:p.Ala468fs, XP_016876757.1:p.Ala440fs, XP_016876765.1:p.Ala468fs, XP_016876755.1:p.Ala468fs, XP_016876761.1:p.Ala468fs, XP_016876764.1:p.Ala468fs, XP_016876754.1:p.Ala468fs, XP_016876758.1:p.Ala436fs, XP_016876759.1:p.Ala468fs, XP_016876760.1:p.Ala468fs, XP_047287312.1:p.Ala440fs, XP_047287311.1:p.Ala468fs, XP_047287313.1:p.Ala440fs

      3.

      rs1488938453 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        14:104093424 (GRCh38)
        14:104559761 (GRCh37)
        Canonical SPDI:
        NC_000014.9:104093423:A:G
        Gene:
        ASPG (Varview)
        Functional Consequence:
        coding_sequence_variant,intron_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000043/1 (ALFA)
        G=0.000014/2 (GnomAD)
        G=0.000016/4 (GnomAD_exomes)
        G=0.000023/6 (TOPMED)
        HGVS:

        4.

        rs1488669185 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          14:104105418 (GRCh38)
          14:104571755 (GRCh37)
          Canonical SPDI:
          NC_000014.9:104105417:G:A,NC_000014.9:104105417:G:T
          Gene:
          ASPG (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000014.9:g.104105418G>A, NC_000014.9:g.104105418G>T, NC_000014.8:g.104571755G>A, NC_000014.8:g.104571755G>T, XM_005267590.5:c.1141G>A, XM_005267590.5:c.1141G>T, XM_005267590.4:c.1141G>A, XM_005267590.4:c.1141G>T, XM_005267590.3:c.1141G>A, XM_005267590.3:c.1141G>T, XM_005267590.2:c.1141G>A, XM_005267590.2:c.1141G>T, XM_005267590.1:c.1141G>A, XM_005267590.1:c.1141G>T, NM_001080464.3:c.1141G>A, NM_001080464.3:c.1141G>T, NM_001080464.2:c.1141G>A, NM_001080464.2:c.1141G>T, XM_017021274.2:c.1012G>A, XM_017021274.2:c.1012G>T, XM_017021274.1:c.1012G>A, XM_017021274.1:c.1012G>T, XM_017021267.2:c.1225G>A, XM_017021267.2:c.1225G>T, XM_017021267.1:c.1225G>A, XM_017021267.1:c.1225G>T, XM_017021273.2:c.1225G>A, XM_017021273.2:c.1225G>T, XM_017021273.1:c.1225G>A, XM_017021273.1:c.1225G>T, XM_017021268.2:c.1141G>A, XM_017021268.2:c.1141G>T, XM_017021268.1:c.1141G>A, XM_017021268.1:c.1141G>T, XM_017021276.2:c.1225G>A, XM_017021276.2:c.1225G>T, XM_017021276.1:c.1225G>A, XM_017021276.1:c.1225G>T, XM_017021266.2:c.1225G>A, XM_017021266.2:c.1225G>T, XM_017021266.1:c.1225G>A, XM_017021266.1:c.1225G>T, XM_017021272.2:c.1225G>A, XM_017021272.2:c.1225G>T, XM_017021272.1:c.1225G>A, XM_017021272.1:c.1225G>T, XM_017021275.2:c.1225G>A, XM_017021275.2:c.1225G>T, XM_017021275.1:c.1225G>A, XM_017021275.1:c.1225G>T, XM_017021265.1:c.1225G>A, XM_017021265.1:c.1225G>T, XM_017021269.1:c.1225G>A, XM_017021269.1:c.1225G>T, XM_017021270.1:c.1225G>A, XM_017021270.1:c.1225G>T, XM_017021271.1:c.1225G>A, XM_017021271.1:c.1225G>T, XM_047431356.1:c.1141G>A, XM_047431356.1:c.1141G>T, XM_047431355.1:c.1225G>A, XM_047431355.1:c.1225G>T, XM_047431357.1:c.1141G>A, XM_047431357.1:c.1141G>T, NM_001411060.1:c.1141G>A, NM_001411060.1:c.1141G>T, XP_005267647.1:p.Val381Ile, XP_005267647.1:p.Val381Phe, NP_001073933.2:p.Val381Ile, NP_001073933.2:p.Val381Phe, XP_016876763.1:p.Val338Ile, XP_016876763.1:p.Val338Phe, XP_016876756.1:p.Val409Ile, XP_016876756.1:p.Val409Phe, XP_016876762.1:p.Val409Ile, XP_016876762.1:p.Val409Phe, XP_016876757.1:p.Val381Ile, XP_016876757.1:p.Val381Phe, XP_016876765.1:p.Val409Ile, XP_016876765.1:p.Val409Phe, XP_016876755.1:p.Val409Ile, XP_016876755.1:p.Val409Phe, XP_016876761.1:p.Val409Ile, XP_016876761.1:p.Val409Phe, XP_016876764.1:p.Val409Ile, XP_016876764.1:p.Val409Phe, XP_016876754.1:p.Val409Ile, XP_016876754.1:p.Val409Phe, XP_016876758.1:p.Val409Ile, XP_016876758.1:p.Val409Phe, XP_016876759.1:p.Val409Ile, XP_016876759.1:p.Val409Phe, XP_016876760.1:p.Val409Ile, XP_016876760.1:p.Val409Phe, XP_047287312.1:p.Val381Ile, XP_047287312.1:p.Val381Phe, XP_047287311.1:p.Val409Ile, XP_047287311.1:p.Val409Phe, XP_047287313.1:p.Val381Ile, XP_047287313.1:p.Val381Phe

          5.

          rs1487890017 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            14:104109268 (GRCh38)
            14:104575605 (GRCh37)
            Canonical SPDI:
            NC_000014.9:104109267:C:T
            Gene:
            ASPG (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,synonymous_variant
            HGVS:
            NC_000014.9:g.104109268C>T, NC_000014.8:g.104575605C>T, XM_005267590.5:c.1473C>T, XM_005267590.4:c.1473C>T, XM_005267590.3:c.1473C>T, XM_005267590.2:c.1473C>T, XM_005267590.1:c.1473C>T, NM_001080464.3:c.1473C>T, NM_001080464.2:c.1473C>T, XM_017021274.2:c.1582C>T, XM_017021274.1:c.1582C>T, XM_017021267.2:c.1795C>T, XM_017021267.1:c.1795C>T, XM_017021273.2:c.1557C>T, XM_017021273.1:c.1557C>T, XM_017021268.2:c.1711C>T, XM_017021268.1:c.1711C>T, XM_017021276.2:c.1557C>T, XM_017021276.1:c.1557C>T, XM_017021266.2:c.1795C>T, XM_017021266.1:c.1795C>T, XM_017021272.2:c.1557C>T, XM_017021272.1:c.1557C>T, XM_017021275.2:c.1557C>T, XM_017021275.1:c.1557C>T, XM_017021265.1:c.1795C>T, XM_017021269.1:c.1699C>T, XM_017021270.1:c.1654C>T, XM_017021271.1:c.1557C>T, XM_047431356.1:c.1570C>T, XM_047431355.1:c.1795C>T, XM_047431357.1:c.1473C>T, NM_001411060.1:c.1473C>T, XP_016876763.1:p.Leu528Phe, XP_016876756.1:p.Leu599Phe, XP_016876757.1:p.Leu571Phe, XP_016876755.1:p.Leu599Phe, XP_016876754.1:p.Leu599Phe, XP_016876758.1:p.Leu567Phe, XP_016876759.1:p.Leu552Phe, XP_047287312.1:p.Leu524Phe, XP_047287311.1:p.Leu599Phe

            6.

            rs1486419463 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              14:104095636 (GRCh38)
              14:104561973 (GRCh37)
              Canonical SPDI:
              NC_000014.9:104095635:G:A
              Gene:
              ASPG (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              HGVS:
              NC_000014.9:g.104095636G>A, NC_000014.8:g.104561973G>A, XM_005267590.5:c.409G>A, XM_005267590.4:c.409G>A, XM_005267590.3:c.409G>A, XM_005267590.2:c.409G>A, XM_005267590.1:c.409G>A, NM_001080464.3:c.409G>A, NM_001080464.2:c.409G>A, XM_017021274.2:c.280G>A, XM_017021274.1:c.280G>A, XM_017021267.2:c.493G>A, XM_017021267.1:c.493G>A, XM_017021273.2:c.493G>A, XM_017021273.1:c.493G>A, XM_017021268.2:c.409G>A, XM_017021268.1:c.409G>A, XM_017021276.2:c.493G>A, XM_017021276.1:c.493G>A, XM_017021266.2:c.493G>A, XM_017021266.1:c.493G>A, XM_017021272.2:c.493G>A, XM_017021272.1:c.493G>A, XM_017021275.2:c.493G>A, XM_017021275.1:c.493G>A, XM_017021265.1:c.493G>A, XM_017021269.1:c.493G>A, XM_017021270.1:c.493G>A, XM_017021271.1:c.493G>A, XM_047431356.1:c.409G>A, XM_047431355.1:c.493G>A, XM_047431357.1:c.409G>A, NM_001411060.1:c.409G>A, XP_005267647.1:p.Val137Ile, NP_001073933.2:p.Val137Ile, XP_016876763.1:p.Val94Ile, XP_016876756.1:p.Val165Ile, XP_016876762.1:p.Val165Ile, XP_016876757.1:p.Val137Ile, XP_016876765.1:p.Val165Ile, XP_016876755.1:p.Val165Ile, XP_016876761.1:p.Val165Ile, XP_016876764.1:p.Val165Ile, XP_016876754.1:p.Val165Ile, XP_016876758.1:p.Val165Ile, XP_016876759.1:p.Val165Ile, XP_016876760.1:p.Val165Ile, XP_047287312.1:p.Val137Ile, XP_047287311.1:p.Val165Ile, XP_047287313.1:p.Val137Ile

              7.

              rs1483164428 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                14:104093259 (GRCh38)
                14:104559596 (GRCh37)
                Canonical SPDI:
                NC_000014.9:104093258:G:A
                Gene:
                ASPG (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000015/1 (GnomAD_exomes)
                A=0.000015/4 (TOPMED)
                HGVS:

                8.

                rs1481732421 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  14:104097562 (GRCh38)
                  14:104563899 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:104097561:C:T
                  Gene:
                  ASPG (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000006/1 (GnomAD_exomes)
                  HGVS:
                  NC_000014.9:g.104097562C>T, NC_000014.8:g.104563899C>T, XM_005267590.5:c.438C>T, XM_005267590.4:c.438C>T, XM_005267590.3:c.438C>T, XM_005267590.2:c.438C>T, XM_005267590.1:c.438C>T, NM_001080464.3:c.438C>T, NM_001080464.2:c.438C>T, XM_017021274.2:c.309C>T, XM_017021274.1:c.309C>T, XM_017021267.2:c.522C>T, XM_017021267.1:c.522C>T, XM_017021273.2:c.522C>T, XM_017021273.1:c.522C>T, XM_017021268.2:c.438C>T, XM_017021268.1:c.438C>T, XM_017021276.2:c.522C>T, XM_017021276.1:c.522C>T, XM_017021266.2:c.522C>T, XM_017021266.1:c.522C>T, XM_017021272.2:c.522C>T, XM_017021272.1:c.522C>T, XM_017021275.2:c.522C>T, XM_017021275.1:c.522C>T, XM_017021265.1:c.522C>T, XM_017021269.1:c.522C>T, XM_017021270.1:c.522C>T, XM_017021271.1:c.522C>T, XM_047431356.1:c.438C>T, XM_047431355.1:c.522C>T, XM_047431357.1:c.438C>T, NM_001411060.1:c.438C>T

                  9.

                  rs1480014615 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    14:104097569 (GRCh38)
                    14:104563906 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:104097568:C:T
                    Gene:
                    ASPG (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000014.9:g.104097569C>T, NC_000014.8:g.104563906C>T, XM_005267590.5:c.445C>T, XM_005267590.4:c.445C>T, XM_005267590.3:c.445C>T, XM_005267590.2:c.445C>T, XM_005267590.1:c.445C>T, NM_001080464.3:c.445C>T, NM_001080464.2:c.445C>T, XM_017021274.2:c.316C>T, XM_017021274.1:c.316C>T, XM_017021267.2:c.529C>T, XM_017021267.1:c.529C>T, XM_017021273.2:c.529C>T, XM_017021273.1:c.529C>T, XM_017021268.2:c.445C>T, XM_017021268.1:c.445C>T, XM_017021276.2:c.529C>T, XM_017021276.1:c.529C>T, XM_017021266.2:c.529C>T, XM_017021266.1:c.529C>T, XM_017021272.2:c.529C>T, XM_017021272.1:c.529C>T, XM_017021275.2:c.529C>T, XM_017021275.1:c.529C>T, XM_017021265.1:c.529C>T, XM_017021269.1:c.529C>T, XM_017021270.1:c.529C>T, XM_017021271.1:c.529C>T, XM_047431356.1:c.445C>T, XM_047431355.1:c.529C>T, XM_047431357.1:c.445C>T, NM_001411060.1:c.445C>T

                    10.

                    rs1479837280 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      14:104093464 (GRCh38)
                      14:104559801 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:104093463:C:A
                      Gene:
                      ASPG (Varview)
                      Functional Consequence:
                      coding_sequence_variant,intron_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:

                      11.

                      rs1477275260 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        14:104098925 (GRCh38)
                        14:104565262 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:104098924:G:A
                        Gene:
                        ASPG (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000014.9:g.104098925G>A, NC_000014.8:g.104565262G>A, XM_005267590.5:c.586G>A, XM_005267590.4:c.586G>A, XM_005267590.3:c.586G>A, XM_005267590.2:c.586G>A, XM_005267590.1:c.586G>A, NM_001080464.3:c.586G>A, NM_001080464.2:c.586G>A, XM_017021274.2:c.457G>A, XM_017021274.1:c.457G>A, XM_017021267.2:c.670G>A, XM_017021267.1:c.670G>A, XM_017021273.2:c.670G>A, XM_017021273.1:c.670G>A, XM_017021268.2:c.586G>A, XM_017021268.1:c.586G>A, XM_017021276.2:c.670G>A, XM_017021276.1:c.670G>A, XM_017021266.2:c.670G>A, XM_017021266.1:c.670G>A, XM_017021272.2:c.670G>A, XM_017021272.1:c.670G>A, XM_017021275.2:c.670G>A, XM_017021275.1:c.670G>A, XM_017021265.1:c.670G>A, XM_017021269.1:c.670G>A, XM_017021270.1:c.670G>A, XM_017021271.1:c.670G>A, XM_047431356.1:c.586G>A, XM_047431355.1:c.670G>A, XM_047431357.1:c.586G>A, NM_001411060.1:c.586G>A, XP_005267647.1:p.Ala196Thr, NP_001073933.2:p.Ala196Thr, XP_016876763.1:p.Ala153Thr, XP_016876756.1:p.Ala224Thr, XP_016876762.1:p.Ala224Thr, XP_016876757.1:p.Ala196Thr, XP_016876765.1:p.Ala224Thr, XP_016876755.1:p.Ala224Thr, XP_016876761.1:p.Ala224Thr, XP_016876764.1:p.Ala224Thr, XP_016876754.1:p.Ala224Thr, XP_016876758.1:p.Ala224Thr, XP_016876759.1:p.Ala224Thr, XP_016876760.1:p.Ala224Thr, XP_047287312.1:p.Ala196Thr, XP_047287311.1:p.Ala224Thr, XP_047287313.1:p.Ala196Thr

                        12.

                        rs1475957537 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          14:104107193 (GRCh38)
                          14:104573530 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:104107192:G:A
                          Gene:
                          ASPG (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_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_000014.9:g.104107193G>A, NC_000014.8:g.104573530G>A, XM_005267590.5:c.1281G>A, XM_005267590.4:c.1281G>A, XM_005267590.3:c.1281G>A, XM_005267590.2:c.1281G>A, XM_005267590.1:c.1281G>A, NM_001080464.3:c.1281G>A, NM_001080464.2:c.1281G>A, XM_017021274.2:c.1152G>A, XM_017021274.1:c.1152G>A, XM_017021267.2:c.1365G>A, XM_017021267.1:c.1365G>A, XM_017021273.2:c.1365G>A, XM_017021273.1:c.1365G>A, XM_017021268.2:c.1281G>A, XM_017021268.1:c.1281G>A, XM_017021276.2:c.1365G>A, XM_017021276.1:c.1365G>A, XM_017021266.2:c.1365G>A, XM_017021266.1:c.1365G>A, XM_017021272.2:c.1365G>A, XM_017021272.1:c.1365G>A, XM_017021275.2:c.1365G>A, XM_017021275.1:c.1365G>A, XM_017021265.1:c.1365G>A, XM_017021269.1:c.1269G>A, XM_017021270.1:c.1365G>A, XM_017021271.1:c.1365G>A, XM_047431356.1:c.1281G>A, XM_047431355.1:c.1365G>A, XM_047431357.1:c.1281G>A, NM_001411060.1:c.1281G>A

                          13.

                          rs1472735289 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            14:104108425 (GRCh38)
                            14:104574762 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:104108424:G:A,NC_000014.9:104108424:G:C
                            Gene:
                            ASPG (Varview)
                            Functional Consequence:
                            synonymous_variant,intron_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000008/2 (TOPMED)
                            HGVS:

                            14.

                            rs1469883923 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              14:104098874 (GRCh38)
                              14:104565211 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:104098873:C:T
                              Gene:
                              ASPG (Varview)
                              Functional Consequence:
                              stop_gained,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0.000051/1 (ALFA)
                              T=0.000012/3 (GnomAD_exomes)
                              HGVS:
                              NC_000014.9:g.104098874C>T, NC_000014.8:g.104565211C>T, XM_005267590.5:c.535C>T, XM_005267590.4:c.535C>T, XM_005267590.3:c.535C>T, XM_005267590.2:c.535C>T, XM_005267590.1:c.535C>T, NM_001080464.3:c.535C>T, NM_001080464.2:c.535C>T, XM_017021274.2:c.406C>T, XM_017021274.1:c.406C>T, XM_017021267.2:c.619C>T, XM_017021267.1:c.619C>T, XM_017021273.2:c.619C>T, XM_017021273.1:c.619C>T, XM_017021268.2:c.535C>T, XM_017021268.1:c.535C>T, XM_017021276.2:c.619C>T, XM_017021276.1:c.619C>T, XM_017021266.2:c.619C>T, XM_017021266.1:c.619C>T, XM_017021272.2:c.619C>T, XM_017021272.1:c.619C>T, XM_017021275.2:c.619C>T, XM_017021275.1:c.619C>T, XM_017021265.1:c.619C>T, XM_017021269.1:c.619C>T, XM_017021270.1:c.619C>T, XM_017021271.1:c.619C>T, XM_047431356.1:c.535C>T, XM_047431355.1:c.619C>T, XM_047431357.1:c.535C>T, NM_001411060.1:c.535C>T, XP_005267647.1:p.Gln179Ter, NP_001073933.2:p.Gln179Ter, XP_016876763.1:p.Gln136Ter, XP_016876756.1:p.Gln207Ter, XP_016876762.1:p.Gln207Ter, XP_016876757.1:p.Gln179Ter, XP_016876765.1:p.Gln207Ter, XP_016876755.1:p.Gln207Ter, XP_016876761.1:p.Gln207Ter, XP_016876764.1:p.Gln207Ter, XP_016876754.1:p.Gln207Ter, XP_016876758.1:p.Gln207Ter, XP_016876759.1:p.Gln207Ter, XP_016876760.1:p.Gln207Ter, XP_047287312.1:p.Gln179Ter, XP_047287311.1:p.Gln207Ter, XP_047287313.1:p.Gln179Ter

                              15.

                              rs1466535520 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                14:104110109 (GRCh38)
                                14:104576446 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:104110108:C:G
                                Gene:
                                ASPG (Varview)
                                Functional Consequence:
                                synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1465901198 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  14:104104457 (GRCh38)
                                  14:104570794 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:104104456:G:A,NC_000014.9:104104456:G:T
                                  Gene:
                                  ASPG (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  T=0.000004/1 (TOPMED)
                                  A=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000014.9:g.104104457G>A, NC_000014.9:g.104104457G>T, NC_000014.8:g.104570794G>A, NC_000014.8:g.104570794G>T, XM_005267590.5:c.907G>A, XM_005267590.5:c.907G>T, XM_005267590.4:c.907G>A, XM_005267590.4:c.907G>T, XM_005267590.3:c.907G>A, XM_005267590.3:c.907G>T, XM_005267590.2:c.907G>A, XM_005267590.2:c.907G>T, XM_005267590.1:c.907G>A, XM_005267590.1:c.907G>T, NM_001080464.3:c.907G>A, NM_001080464.3:c.907G>T, NM_001080464.2:c.907G>A, NM_001080464.2:c.907G>T, XM_017021274.2:c.778G>A, XM_017021274.2:c.778G>T, XM_017021274.1:c.778G>A, XM_017021274.1:c.778G>T, XM_017021267.2:c.991G>A, XM_017021267.2:c.991G>T, XM_017021267.1:c.991G>A, XM_017021267.1:c.991G>T, XM_017021273.2:c.991G>A, XM_017021273.2:c.991G>T, XM_017021273.1:c.991G>A, XM_017021273.1:c.991G>T, XM_017021268.2:c.907G>A, XM_017021268.2:c.907G>T, XM_017021268.1:c.907G>A, XM_017021268.1:c.907G>T, XM_017021276.2:c.991G>A, XM_017021276.2:c.991G>T, XM_017021276.1:c.991G>A, XM_017021276.1:c.991G>T, XM_017021266.2:c.991G>A, XM_017021266.2:c.991G>T, XM_017021266.1:c.991G>A, XM_017021266.1:c.991G>T, XM_017021272.2:c.991G>A, XM_017021272.2:c.991G>T, XM_017021272.1:c.991G>A, XM_017021272.1:c.991G>T, XM_017021275.2:c.991G>A, XM_017021275.2:c.991G>T, XM_017021275.1:c.991G>A, XM_017021275.1:c.991G>T, XM_017021265.1:c.991G>A, XM_017021265.1:c.991G>T, XM_017021269.1:c.991G>A, XM_017021269.1:c.991G>T, XM_017021270.1:c.991G>A, XM_017021270.1:c.991G>T, XM_017021271.1:c.991G>A, XM_017021271.1:c.991G>T, XM_047431356.1:c.907G>A, XM_047431356.1:c.907G>T, XM_047431355.1:c.991G>A, XM_047431355.1:c.991G>T, XM_047431357.1:c.907G>A, XM_047431357.1:c.907G>T, NM_001411060.1:c.907G>A, NM_001411060.1:c.907G>T, XP_005267647.1:p.Ala303Thr, XP_005267647.1:p.Ala303Ser, NP_001073933.2:p.Ala303Thr, NP_001073933.2:p.Ala303Ser, XP_016876763.1:p.Ala260Thr, XP_016876763.1:p.Ala260Ser, XP_016876756.1:p.Ala331Thr, XP_016876756.1:p.Ala331Ser, XP_016876762.1:p.Ala331Thr, XP_016876762.1:p.Ala331Ser, XP_016876757.1:p.Ala303Thr, XP_016876757.1:p.Ala303Ser, XP_016876765.1:p.Ala331Thr, XP_016876765.1:p.Ala331Ser, XP_016876755.1:p.Ala331Thr, XP_016876755.1:p.Ala331Ser, XP_016876761.1:p.Ala331Thr, XP_016876761.1:p.Ala331Ser, XP_016876764.1:p.Ala331Thr, XP_016876764.1:p.Ala331Ser, XP_016876754.1:p.Ala331Thr, XP_016876754.1:p.Ala331Ser, XP_016876758.1:p.Ala331Thr, XP_016876758.1:p.Ala331Ser, XP_016876759.1:p.Ala331Thr, XP_016876759.1:p.Ala331Ser, XP_016876760.1:p.Ala331Thr, XP_016876760.1:p.Ala331Ser, XP_047287312.1:p.Ala303Thr, XP_047287312.1:p.Ala303Ser, XP_047287311.1:p.Ala331Thr, XP_047287311.1:p.Ala331Ser, XP_047287313.1:p.Ala303Thr, XP_047287313.1:p.Ala303Ser

                                  17.

                                  rs1463708147 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    14:104093530 (GRCh38)
                                    14:104559867 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:104093529:G:A
                                    Gene:
                                    ASPG (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.000071/1 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000014.9:g.104093530G>A, NC_000014.8:g.104559867G>A, XM_005267590.5:c.231G>A, XM_005267590.4:c.231G>A, XM_005267590.3:c.231G>A, XM_005267590.2:c.231G>A, XM_005267590.1:c.231G>A, NM_001080464.3:c.231G>A, NM_001080464.2:c.231G>A, XM_017021274.2:c.102G>A, XM_017021274.1:c.102G>A, XM_017021267.2:c.315G>A, XM_017021267.1:c.315G>A, XM_017021273.2:c.315G>A, XM_017021273.1:c.315G>A, XM_017021268.2:c.231G>A, XM_017021268.1:c.231G>A, XM_017021276.2:c.315G>A, XM_017021276.1:c.315G>A, XM_017021266.2:c.315G>A, XM_017021266.1:c.315G>A, XM_017021272.2:c.315G>A, XM_017021272.1:c.315G>A, XM_017021275.2:c.315G>A, XM_017021275.1:c.315G>A, XM_017021265.1:c.315G>A, XM_017021269.1:c.315G>A, XM_017021270.1:c.315G>A, XM_017021271.1:c.315G>A, XM_047431356.1:c.231G>A, XM_047431355.1:c.315G>A, XM_047431357.1:c.231G>A, NM_001411060.1:c.231G>A

                                    18.

                                    rs1463312924 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      14:104109277 (GRCh38)
                                      14:104575614 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:104109276:C:T
                                      Gene:
                                      ASPG (Varview)
                                      Functional Consequence:
                                      synonymous_variant,missense_variant,coding_sequence_variant
                                      HGVS:
                                      NC_000014.9:g.104109277C>T, NC_000014.8:g.104575614C>T, XM_005267590.5:c.1482C>T, XM_005267590.4:c.1482C>T, XM_005267590.3:c.1482C>T, XM_005267590.2:c.1482C>T, XM_005267590.1:c.1482C>T, NM_001080464.3:c.1482C>T, NM_001080464.2:c.1482C>T, XM_017021274.2:c.1591C>T, XM_017021274.1:c.1591C>T, XM_017021267.2:c.1804C>T, XM_017021267.1:c.1804C>T, XM_017021273.2:c.1566C>T, XM_017021273.1:c.1566C>T, XM_017021268.2:c.1720C>T, XM_017021268.1:c.1720C>T, XM_017021276.2:c.1566C>T, XM_017021276.1:c.1566C>T, XM_017021266.2:c.1804C>T, XM_017021266.1:c.1804C>T, XM_017021272.2:c.1566C>T, XM_017021272.1:c.1566C>T, XM_017021275.2:c.1566C>T, XM_017021275.1:c.1566C>T, XM_017021265.1:c.1804C>T, XM_017021269.1:c.1708C>T, XM_017021270.1:c.1663C>T, XM_017021271.1:c.1566C>T, XM_047431356.1:c.1579C>T, XM_047431355.1:c.1804C>T, XM_047431357.1:c.1482C>T, NM_001411060.1:c.1482C>T, XP_016876763.1:p.His531Tyr, XP_016876756.1:p.His602Tyr, XP_016876757.1:p.His574Tyr, XP_016876755.1:p.His602Tyr, XP_016876754.1:p.His602Tyr, XP_016876758.1:p.His570Tyr, XP_016876759.1:p.His555Tyr, XP_047287312.1:p.His527Tyr, XP_047287311.1:p.His602Tyr

                                      19.

                                      rs1460203661 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        14:104105433 (GRCh38)
                                        14:104571770 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:104105432:A:G
                                        Gene:
                                        ASPG (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        HGVS:
                                        NC_000014.9:g.104105433A>G, NC_000014.8:g.104571770A>G, XM_005267590.5:c.1156A>G, XM_005267590.4:c.1156A>G, XM_005267590.3:c.1156A>G, XM_005267590.2:c.1156A>G, XM_005267590.1:c.1156A>G, NM_001080464.3:c.1156A>G, NM_001080464.2:c.1156A>G, XM_017021274.2:c.1027A>G, XM_017021274.1:c.1027A>G, XM_017021267.2:c.1240A>G, XM_017021267.1:c.1240A>G, XM_017021273.2:c.1240A>G, XM_017021273.1:c.1240A>G, XM_017021268.2:c.1156A>G, XM_017021268.1:c.1156A>G, XM_017021276.2:c.1240A>G, XM_017021276.1:c.1240A>G, XM_017021266.2:c.1240A>G, XM_017021266.1:c.1240A>G, XM_017021272.2:c.1240A>G, XM_017021272.1:c.1240A>G, XM_017021275.2:c.1240A>G, XM_017021275.1:c.1240A>G, XM_017021265.1:c.1240A>G, XM_017021269.1:c.1240A>G, XM_017021270.1:c.1240A>G, XM_017021271.1:c.1240A>G, XM_047431356.1:c.1156A>G, XM_047431355.1:c.1240A>G, XM_047431357.1:c.1156A>G, NM_001411060.1:c.1156A>G, XP_005267647.1:p.Ser386Gly, NP_001073933.2:p.Ser386Gly, XP_016876763.1:p.Ser343Gly, XP_016876756.1:p.Ser414Gly, XP_016876762.1:p.Ser414Gly, XP_016876757.1:p.Ser386Gly, XP_016876765.1:p.Ser414Gly, XP_016876755.1:p.Ser414Gly, XP_016876761.1:p.Ser414Gly, XP_016876764.1:p.Ser414Gly, XP_016876754.1:p.Ser414Gly, XP_016876758.1:p.Ser414Gly, XP_016876759.1:p.Ser414Gly, XP_016876760.1:p.Ser414Gly, XP_047287312.1:p.Ser386Gly, XP_047287311.1:p.Ser414Gly, XP_047287313.1:p.Ser386Gly

                                        20.

                                        rs1454583716 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          CC>- [Show Flanks]
                                          Chromosome:
                                          14:104093584 (GRCh38)
                                          14:104559921 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:104093583:CC:
                                          Gene:
                                          ASPG (Varview)
                                          Functional Consequence:
                                          frameshift_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          -=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000014.9:g.104093584_104093585del, NC_000014.8:g.104559921_104559922del, XM_005267590.5:c.285_286del, XM_005267590.4:c.285_286del, XM_005267590.3:c.285_286del, XM_005267590.2:c.285_286del, XM_005267590.1:c.285_286del, NM_001080464.3:c.285_286del, NM_001080464.2:c.285_286del, XM_017021274.2:c.156_157del, XM_017021274.1:c.156_157del, XM_017021267.2:c.369_370del, XM_017021267.1:c.369_370del, XM_017021273.2:c.369_370del, XM_017021273.1:c.369_370del, XM_017021268.2:c.285_286del, XM_017021268.1:c.285_286del, XM_017021276.2:c.369_370del, XM_017021276.1:c.369_370del, XM_017021266.2:c.369_370del, XM_017021266.1:c.369_370del, XM_017021272.2:c.369_370del, XM_017021272.1:c.369_370del, XM_017021275.2:c.369_370del, XM_017021275.1:c.369_370del, XM_017021265.1:c.369_370del, XM_017021269.1:c.369_370del, XM_017021270.1:c.369_370del, XM_017021271.1:c.369_370del, XM_047431356.1:c.285_286del, XM_047431355.1:c.369_370del, XM_047431357.1:c.285_286del, NM_001411060.1:c.285_286del, XP_005267647.1:p.Leu96fs, NP_001073933.2:p.Leu96fs, XP_016876763.1:p.Leu53fs, XP_016876756.1:p.Leu124fs, XP_016876762.1:p.Leu124fs, XP_016876757.1:p.Leu96fs, XP_016876765.1:p.Leu124fs, XP_016876755.1:p.Leu124fs, XP_016876761.1:p.Leu124fs, XP_016876764.1:p.Leu124fs, XP_016876754.1:p.Leu124fs, XP_016876758.1:p.Leu124fs, XP_016876759.1:p.Leu124fs, XP_016876760.1:p.Leu124fs, XP_047287312.1:p.Leu96fs, XP_047287311.1:p.Leu124fs, XP_047287313.1:p.Leu96fs

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