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Items: 1 to 20 of 605

1.

rs1486358061 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    19:55081451 (GRCh38)
    19:55592819 (GRCh37)
    Canonical SPDI:
    NC_000019.10:55081450:C:T
    Gene:
    EPS8L1 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000008/2 (TOPMED)
    T=0.000014/2 (GnomAD)
    HGVS:
    NC_000019.10:g.55081451C>T, NC_000019.9:g.55592819C>T, NW_003571061.2:g.793612C>T, NW_003571061.1:g.793611C>T, NW_003571055.2:g.726653C>T, NW_003571055.1:g.726652C>T, NW_003571059.2:g.999816C>T, NW_003571056.2:g.1061437C>T, NW_003571057.2:g.1088974C>T, NW_003571058.2:g.1063523C>T, NT_187693.1:g.1063933C>T, NW_003571060.1:g.984233C>T, NW_003571054.1:g.984849C>T, NW_004166865.1:g.1055819C>T, NM_017729.4:c.352C>T, NM_017729.3:c.352C>T, XM_011527052.4:c.733C>T, XM_011527052.3:c.733C>T, XM_011527052.2:c.733C>T, XM_011527052.1:c.733C>T, XM_011527051.4:c.733C>T, XM_011527051.3:c.733C>T, XM_011527051.2:c.733C>T, XM_011527051.1:c.733C>T, XM_005259020.3:c.733C>T, XM_005259020.2:c.733C>T, XM_005259020.1:c.733C>T, NM_133180.3:c.733C>T, NM_133180.2:c.733C>T, NM_139204.1:c.679C>T, XM_011527050.2:c.352C>T, XM_011527050.1:c.352C>T, XM_047439022.1:c.733C>T, XM_047439021.1:c.733C>T, NP_060199.3:p.Arg118Trp, XP_011525354.1:p.Arg245Trp, XP_011525353.1:p.Arg245Trp, XP_005259077.1:p.Arg245Trp, NP_573441.2:p.Arg245Trp, XP_011525352.1:p.Arg118Trp, XP_047294978.1:p.Arg245Trp, XP_047294977.1:p.Arg245Trp

    2.

    rs1482230594 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      19:55081334 (GRCh38)
      19:55592702 (GRCh37)
      Canonical SPDI:
      NC_000019.10:55081333:G:A,NC_000019.10:55081333:G:C
      Gene:
      EPS8L1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000006/1 (GnomAD_exomes)
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000019.10:g.55081334G>A, NC_000019.10:g.55081334G>C, NC_000019.9:g.55592702G>A, NC_000019.9:g.55592702G>C, NW_003571061.2:g.793495G>A, NW_003571061.2:g.793495G>C, NW_003571061.1:g.793494G>A, NW_003571061.1:g.793494G>C, NW_003571055.2:g.726536G>A, NW_003571055.2:g.726536G>C, NW_003571055.1:g.726535G>A, NW_003571055.1:g.726535G>C, NW_003571059.2:g.999699G>A, NW_003571059.2:g.999699G>C, NW_003571056.2:g.1061320G>A, NW_003571056.2:g.1061320G>C, NW_003571057.2:g.1088857G>A, NW_003571057.2:g.1088857G>C, NW_003571058.2:g.1063406G>A, NW_003571058.2:g.1063406G>C, NT_187693.1:g.1063816G>A, NT_187693.1:g.1063816G>C, NW_003571060.1:g.984116G>A, NW_003571060.1:g.984116G>C, NW_003571054.1:g.984732G>A, NW_003571054.1:g.984732G>C, NW_004166865.1:g.1055702G>A, NW_004166865.1:g.1055702G>C, NM_017729.4:c.235G>A, NM_017729.4:c.235G>C, NM_017729.3:c.235G>A, NM_017729.3:c.235G>C, XM_011527052.4:c.616G>A, XM_011527052.4:c.616G>C, XM_011527052.3:c.616G>A, XM_011527052.3:c.616G>C, XM_011527052.2:c.616G>A, XM_011527052.2:c.616G>C, XM_011527052.1:c.616G>A, XM_011527052.1:c.616G>C, XM_011527051.4:c.616G>A, XM_011527051.4:c.616G>C, XM_011527051.3:c.616G>A, XM_011527051.3:c.616G>C, XM_011527051.2:c.616G>A, XM_011527051.2:c.616G>C, XM_011527051.1:c.616G>A, XM_011527051.1:c.616G>C, XM_005259020.3:c.616G>A, XM_005259020.3:c.616G>C, XM_005259020.2:c.616G>A, XM_005259020.2:c.616G>C, XM_005259020.1:c.616G>A, XM_005259020.1:c.616G>C, NM_133180.3:c.616G>A, NM_133180.3:c.616G>C, NM_133180.2:c.616G>A, NM_133180.2:c.616G>C, XM_011527050.2:c.235G>A, XM_011527050.2:c.235G>C, XM_011527050.1:c.235G>A, XM_011527050.1:c.235G>C, XM_047439022.1:c.616G>A, XM_047439022.1:c.616G>C, XM_047439021.1:c.616G>A, XM_047439021.1:c.616G>C, NM_139204.1:c.562G>A, NM_139204.1:c.562G>C, NP_060199.3:p.Gly79Ser, NP_060199.3:p.Gly79Arg, XP_011525354.1:p.Gly206Ser, XP_011525354.1:p.Gly206Arg, XP_011525353.1:p.Gly206Ser, XP_011525353.1:p.Gly206Arg, XP_005259077.1:p.Gly206Ser, XP_005259077.1:p.Gly206Arg, NP_573441.2:p.Gly206Ser, NP_573441.2:p.Gly206Arg, XP_011525352.1:p.Gly79Ser, XP_011525352.1:p.Gly79Arg, XP_047294978.1:p.Gly206Ser, XP_047294978.1:p.Gly206Arg, XP_047294977.1:p.Gly206Ser, XP_047294977.1:p.Gly206Arg

      3.

      rs1481325337 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TGACCCGC>- [Show Flanks]
        Chromosome:
        19:55083450 (GRCh38)
        19:55594818 (GRCh37)
        Canonical SPDI:
        NC_000019.10:55083448:CTGACCCGC:C
        Gene:
        EPS8L1 (Varview)
        Functional Consequence:
        frameshift_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        -=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000019.10:g.55083450_55083457del, NC_000019.9:g.55594818_55594825del, NW_003571061.2:g.795611_795618del, NW_003571061.1:g.795610_795617del, NW_003571055.2:g.728652_728659del, NW_003571055.1:g.728651_728658del, NW_003571059.2:g.1001815_1001822del, NW_003571056.2:g.1063436_1063443del, NW_003571057.2:g.1090973_1090980del, NW_003571058.2:g.1065522_1065529del, NT_187693.1:g.1065932_1065939del, NW_003571060.1:g.986232_986239del, NW_003571054.1:g.986848_986855del, NW_004166865.1:g.1057818_1057825del, NM_017729.4:c.906_913del, NM_017729.3:c.906_913del, XM_011527052.4:c.1287_1294del, XM_011527052.3:c.1287_1294del, XM_011527052.2:c.1287_1294del, XM_011527052.1:c.1287_1294del, XM_011527051.4:c.1287_1294del, XM_011527051.3:c.1287_1294del, XM_011527051.2:c.1287_1294del, XM_011527051.1:c.1287_1294del, XM_005259020.3:c.1287_1294del, XM_005259020.2:c.1287_1294del, XM_005259020.1:c.1287_1294del, NM_133180.3:c.1287_1294del, NM_133180.2:c.1287_1294del, NM_139204.1:c.1233_1240del, XM_011527050.2:c.906_913del, XM_011527050.1:c.906_913del, XM_047439021.1:c.1287_1294del, XM_047439022.1:c.1287_1294del, NP_060199.3:p.Asp303fs, XP_011525354.1:p.Asp430fs, XP_011525353.1:p.Asp430fs, XP_005259077.1:p.Asp430fs, NP_573441.2:p.Asp430fs, XP_011525352.1:p.Asp303fs, XP_047294977.1:p.Asp430fs, XP_047294978.1:p.Asp430fs

        4.

        rs1481070564 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          19:55083616 (GRCh38)
          19:55594984 (GRCh37)
          Canonical SPDI:
          NC_000019.10:55083615:C:T
          Gene:
          EPS8L1 (Varview)
          Functional Consequence:
          stop_gained,coding_sequence_variant
          HGVS:
          NC_000019.10:g.55083616C>T, NC_000019.9:g.55594984C>T, NW_003571061.2:g.795777C>T, NW_003571061.1:g.795776C>T, NW_003571055.2:g.728818C>T, NW_003571055.1:g.728817C>T, NW_003571059.2:g.1001981C>T, NW_003571056.2:g.1063602C>T, NW_003571057.2:g.1091139C>T, NW_003571058.2:g.1065688C>T, NT_187693.1:g.1066098C>T, NW_003571060.1:g.986398C>T, NW_003571054.1:g.987014C>T, NW_004166865.1:g.1057984C>T, NM_017729.4:c.976C>T, NM_017729.3:c.976C>T, XM_011527052.4:c.1357C>T, XM_011527052.3:c.1357C>T, XM_011527052.2:c.1357C>T, XM_011527052.1:c.1357C>T, XM_011527051.4:c.1357C>T, XM_011527051.3:c.1357C>T, XM_011527051.2:c.1357C>T, XM_011527051.1:c.1357C>T, XM_005259020.3:c.1453C>T, XM_005259020.2:c.1453C>T, XM_005259020.1:c.1453C>T, NM_133180.3:c.1357C>T, NM_133180.2:c.1357C>T, XM_011527050.2:c.1072C>T, XM_011527050.1:c.1072C>T, NM_139204.1:c.1399C>T, XM_047439022.1:c.1357C>T, XM_047439021.1:c.1453C>T, NP_060199.3:p.Gln326Ter, XP_011525354.1:p.Gln453Ter, XP_011525353.1:p.Gln453Ter, XP_005259077.1:p.Gln485Ter, NP_573441.2:p.Gln453Ter, XP_011525352.1:p.Gln358Ter, XP_047294978.1:p.Gln453Ter, XP_047294977.1:p.Gln485Ter

          5.

          rs1479656052 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            19:55079055 (GRCh38)
            19:55590423 (GRCh37)
            Canonical SPDI:
            NC_000019.10:55079054:A:G
            Gene:
            EPS8L1 (Varview)
            Functional Consequence:
            missense_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000019.10:g.55079055A>G, NC_000019.9:g.55590423A>G, NW_003571061.2:g.791216A>G, NW_003571061.1:g.791215A>G, NW_003571055.2:g.724257A>G, NW_003571055.1:g.724256A>G, NW_003571059.2:g.997420A>G, NW_003571056.2:g.1059041A>G, NW_003571057.2:g.1086578A>G, NW_003571058.2:g.1061127A>G, NT_187693.1:g.1061537A>G, NW_003571060.1:g.981837A>G, NW_003571054.1:g.982453A>G, NW_004166865.1:g.1053423A>G, XM_011527052.4:c.115A>G, XM_011527052.3:c.115A>G, XM_011527052.2:c.115A>G, XM_011527052.1:c.115A>G, XM_011527051.4:c.115A>G, XM_011527051.3:c.115A>G, XM_011527051.2:c.115A>G, XM_011527051.1:c.115A>G, XM_005259020.3:c.115A>G, XM_005259020.2:c.115A>G, XM_005259020.1:c.115A>G, NM_133180.3:c.115A>G, NM_133180.2:c.115A>G, XM_047439021.1:c.115A>G, XM_047439022.1:c.115A>G, XP_011525354.1:p.Asn39Asp, XP_011525353.1:p.Asn39Asp, XP_005259077.1:p.Asn39Asp, NP_573441.2:p.Asn39Asp, XP_047294977.1:p.Asn39Asp, XP_047294978.1:p.Asn39Asp

            6.

            rs1476367084 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              19:55081340 (GRCh38)
              19:55592708 (GRCh37)
              Canonical SPDI:
              NC_000019.10:55081339:G:A
              Gene:
              EPS8L1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              HGVS:
              NC_000019.10:g.55081340G>A, NC_000019.9:g.55592708G>A, NW_003571061.2:g.793501G>A, NW_003571061.1:g.793500G>A, NW_003571055.2:g.726542G>A, NW_003571055.1:g.726541G>A, NW_003571059.2:g.999705G>A, NW_003571056.2:g.1061326G>A, NW_003571057.2:g.1088863G>A, NW_003571058.2:g.1063412G>A, NT_187693.1:g.1063822G>A, NW_003571060.1:g.984122G>A, NW_003571054.1:g.984738G>A, NW_004166865.1:g.1055708G>A, NM_017729.4:c.241G>A, NM_017729.3:c.241G>A, XM_011527052.4:c.622G>A, XM_011527052.3:c.622G>A, XM_011527052.2:c.622G>A, XM_011527052.1:c.622G>A, XM_011527051.4:c.622G>A, XM_011527051.3:c.622G>A, XM_011527051.2:c.622G>A, XM_011527051.1:c.622G>A, XM_005259020.3:c.622G>A, XM_005259020.2:c.622G>A, XM_005259020.1:c.622G>A, NM_133180.3:c.622G>A, NM_133180.2:c.622G>A, XM_011527050.2:c.241G>A, XM_011527050.1:c.241G>A, XM_047439022.1:c.622G>A, XM_047439021.1:c.622G>A, NM_139204.1:c.568G>A, NP_060199.3:p.Gly81Ser, XP_011525354.1:p.Gly208Ser, XP_011525353.1:p.Gly208Ser, XP_005259077.1:p.Gly208Ser, NP_573441.2:p.Gly208Ser, XP_011525352.1:p.Gly81Ser, XP_047294978.1:p.Gly208Ser, XP_047294977.1:p.Gly208Ser

              7.

              rs1473910277 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                19:55076460 (GRCh38)
                19:55587828 (GRCh37)
                Canonical SPDI:
                NC_000019.10:55076459:G:A
                Gene:
                EPS8L1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000019.10:g.55076460G>A, NC_000019.9:g.55587828G>A, NW_003571061.2:g.788621G>A, NW_003571061.1:g.788620G>A, NW_003571055.2:g.721662G>A, NW_003571055.1:g.721661G>A, NW_003571059.2:g.994825G>A, NW_003571056.2:g.1056446G>A, NW_003571057.2:g.1083983G>A, NW_003571058.2:g.1058532G>A, NT_187693.1:g.1058942G>A, NW_003571060.1:g.979242G>A, NW_003571054.1:g.979858G>A, NW_004166865.1:g.1050828G>A, XM_011527052.4:c.16G>A, XM_011527052.3:c.16G>A, XM_011527052.2:c.16G>A, XM_011527052.1:c.16G>A, XM_011527051.4:c.16G>A, XM_011527051.3:c.16G>A, XM_011527051.2:c.16G>A, XM_011527051.1:c.16G>A, XM_005259020.3:c.16G>A, XM_005259020.2:c.16G>A, XM_005259020.1:c.16G>A, NM_133180.3:c.16G>A, NM_133180.2:c.16G>A, XM_047439021.1:c.16G>A, XM_047439022.1:c.16G>A, XP_011525354.1:p.Gly6Ser, XP_011525353.1:p.Gly6Ser, XP_005259077.1:p.Gly6Ser, NP_573441.2:p.Gly6Ser, XP_047294977.1:p.Gly6Ser, XP_047294978.1:p.Gly6Ser

                8.

                rs1472867582 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  19:55083460 (GRCh38)
                  19:55594828 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:55083459:A:G
                  Gene:
                  EPS8L1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000019.10:g.55083460A>G, NC_000019.9:g.55594828A>G, NW_003571061.2:g.795621A>G, NW_003571061.1:g.795620A>G, NW_003571055.2:g.728662A>G, NW_003571055.1:g.728661A>G, NW_003571059.2:g.1001825A>G, NW_003571056.2:g.1063446A>G, NW_003571057.2:g.1090983A>G, NW_003571058.2:g.1065532A>G, NT_187693.1:g.1065942A>G, NW_003571060.1:g.986242A>G, NW_003571054.1:g.986858A>G, NW_004166865.1:g.1057828A>G, NM_017729.4:c.916A>G, NM_017729.3:c.916A>G, XM_011527052.4:c.1297A>G, XM_011527052.3:c.1297A>G, XM_011527052.2:c.1297A>G, XM_011527052.1:c.1297A>G, XM_011527051.4:c.1297A>G, XM_011527051.3:c.1297A>G, XM_011527051.2:c.1297A>G, XM_011527051.1:c.1297A>G, XM_005259020.3:c.1297A>G, XM_005259020.2:c.1297A>G, XM_005259020.1:c.1297A>G, NM_133180.3:c.1297A>G, NM_133180.2:c.1297A>G, XM_011527050.2:c.916A>G, XM_011527050.1:c.916A>G, XM_047439021.1:c.1297A>G, NM_139204.1:c.1243A>G, XM_047439022.1:c.1297A>G, NP_060199.3:p.Ser306Gly, XP_011525354.1:p.Ser433Gly, XP_011525353.1:p.Ser433Gly, XP_005259077.1:p.Ser433Gly, NP_573441.2:p.Ser433Gly, XP_011525352.1:p.Ser306Gly, XP_047294977.1:p.Ser433Gly, XP_047294978.1:p.Ser433Gly

                  9.

                  rs1472198222 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    19:55081351 (GRCh38)
                    19:55592719 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:55081350:A:G
                    Gene:
                    EPS8L1 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    HGVS:
                    NC_000019.10:g.55081351A>G, NC_000019.9:g.55592719A>G, NW_003571061.2:g.793512A>G, NW_003571061.1:g.793511A>G, NW_003571055.2:g.726553A>G, NW_003571055.1:g.726552A>G, NW_003571059.2:g.999716A>G, NW_003571056.2:g.1061337A>G, NW_003571057.2:g.1088874A>G, NW_003571058.2:g.1063423A>G, NT_187693.1:g.1063833A>G, NW_003571060.1:g.984133A>G, NW_003571054.1:g.984749A>G, NW_004166865.1:g.1055719A>G, NM_017729.4:c.252A>G, NM_017729.3:c.252A>G, XM_011527052.4:c.633A>G, XM_011527052.3:c.633A>G, XM_011527052.2:c.633A>G, XM_011527052.1:c.633A>G, XM_011527051.4:c.633A>G, XM_011527051.3:c.633A>G, XM_011527051.2:c.633A>G, XM_011527051.1:c.633A>G, XM_005259020.3:c.633A>G, XM_005259020.2:c.633A>G, XM_005259020.1:c.633A>G, NM_133180.3:c.633A>G, NM_133180.2:c.633A>G, XM_047439021.1:c.633A>G, XM_011527050.2:c.252A>G, XM_011527050.1:c.252A>G, XM_047439022.1:c.633A>G, NM_139204.1:c.579A>G

                    10.

                    rs1472185963 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      19:55081368 (GRCh38)
                      19:55592736 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:55081367:T:C
                      Gene:
                      EPS8L1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000019.10:g.55081368T>C, NC_000019.9:g.55592736T>C, NW_003571061.2:g.793529T>C, NW_003571061.1:g.793528T>C, NW_003571055.2:g.726570T>C, NW_003571055.1:g.726569T>C, NW_003571059.2:g.999733T>C, NW_003571056.2:g.1061354T>C, NW_003571057.2:g.1088891T>C, NW_003571058.2:g.1063440T>C, NT_187693.1:g.1063850T>C, NW_003571060.1:g.984150T>C, NW_003571054.1:g.984766T>C, NW_004166865.1:g.1055736T>C, NM_017729.4:c.269T>C, NM_017729.3:c.269T>C, XM_011527052.4:c.650T>C, XM_011527052.3:c.650T>C, XM_011527052.2:c.650T>C, XM_011527052.1:c.650T>C, XM_011527051.4:c.650T>C, XM_011527051.3:c.650T>C, XM_011527051.2:c.650T>C, XM_011527051.1:c.650T>C, XM_005259020.3:c.650T>C, XM_005259020.2:c.650T>C, XM_005259020.1:c.650T>C, NM_133180.3:c.650T>C, NM_133180.2:c.650T>C, XM_011527050.2:c.269T>C, XM_011527050.1:c.269T>C, XM_047439022.1:c.650T>C, XM_047439021.1:c.650T>C, NM_139204.1:c.596T>C, NP_060199.3:p.Ile90Thr, XP_011525354.1:p.Ile217Thr, XP_011525353.1:p.Ile217Thr, XP_005259077.1:p.Ile217Thr, NP_573441.2:p.Ile217Thr, XP_011525352.1:p.Ile90Thr, XP_047294978.1:p.Ile217Thr, XP_047294977.1:p.Ile217Thr

                      11.

                      rs1471777531 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        19:55081796 (GRCh38)
                        19:55593164 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:55081795:C:A
                        Gene:
                        EPS8L1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        HGVS:
                        NC_000019.10:g.55081796C>A, NC_000019.9:g.55593164C>A, NW_003571061.2:g.793957C>A, NW_003571061.1:g.793956C>A, NW_003571055.2:g.726998C>A, NW_003571055.1:g.726997C>A, NW_003571059.2:g.1000161C>A, NW_003571056.2:g.1061782C>A, NW_003571057.2:g.1089319C>A, NW_003571058.2:g.1063868C>A, NT_187693.1:g.1064278C>A, NW_003571060.1:g.984578C>A, NW_003571054.1:g.985194C>A, NW_004166865.1:g.1056164C>A, NM_017729.4:c.417C>A, NM_017729.3:c.417C>A, XM_011527052.4:c.798C>A, XM_011527052.3:c.798C>A, XM_011527052.2:c.798C>A, XM_011527052.1:c.798C>A, XM_011527051.4:c.798C>A, XM_011527051.3:c.798C>A, XM_011527051.2:c.798C>A, XM_011527051.1:c.798C>A, XM_005259020.3:c.798C>A, XM_005259020.2:c.798C>A, XM_005259020.1:c.798C>A, NM_133180.3:c.798C>A, NM_133180.2:c.798C>A, NM_139204.1:c.744C>A, XM_011527050.2:c.417C>A, XM_011527050.1:c.417C>A, XM_047439022.1:c.798C>A, XM_047439021.1:c.798C>A, NP_060199.3:p.Asp139Glu, XP_011525354.1:p.Asp266Glu, XP_011525353.1:p.Asp266Glu, XP_005259077.1:p.Asp266Glu, NP_573441.2:p.Asp266Glu, XP_011525352.1:p.Asp139Glu, XP_047294978.1:p.Asp266Glu, XP_047294977.1:p.Asp266Glu

                        12.

                        rs1471715816 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          19:55081269 (GRCh38)
                          19:55592637 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:55081268:C:G
                          Gene:
                          EPS8L1 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0./0 (GnomAD)
                          G=0.000022/3 (GnomAD_exomes)
                          HGVS:
                          NC_000019.10:g.55081269C>G, NC_000019.9:g.55592637C>G, NW_003571061.2:g.793430C>G, NW_003571061.1:g.793429C>G, NW_003571055.2:g.726471C>G, NW_003571055.1:g.726470C>G, NW_003571059.2:g.999634C>G, NW_003571056.2:g.1061255C>G, NW_003571057.2:g.1088792C>G, NW_003571058.2:g.1063341C>G, NT_187693.1:g.1063751C>G, NW_003571060.1:g.984051C>G, NW_003571054.1:g.984667C>G, NW_004166865.1:g.1055637C>G, NM_017729.4:c.170C>G, NM_017729.3:c.170C>G, XM_011527052.4:c.551C>G, XM_011527052.3:c.551C>G, XM_011527052.2:c.551C>G, XM_011527052.1:c.551C>G, XM_011527051.4:c.551C>G, XM_011527051.3:c.551C>G, XM_011527051.2:c.551C>G, XM_011527051.1:c.551C>G, XM_005259020.3:c.551C>G, XM_005259020.2:c.551C>G, XM_005259020.1:c.551C>G, NM_133180.3:c.551C>G, NM_133180.2:c.551C>G, NM_139204.1:c.497C>G, XM_011527050.2:c.170C>G, XM_011527050.1:c.170C>G, XM_047439022.1:c.551C>G, XM_047439021.1:c.551C>G, NP_060199.3:p.Ala57Gly, XP_011525354.1:p.Ala184Gly, XP_011525353.1:p.Ala184Gly, XP_005259077.1:p.Ala184Gly, NP_573441.2:p.Ala184Gly, XP_011525352.1:p.Ala57Gly, XP_047294978.1:p.Ala184Gly, XP_047294977.1:p.Ala184Gly

                          13.

                          rs1468909170 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            19:55081258 (GRCh38)
                            19:55592626 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:55081257:C:A,NC_000019.10:55081257:C:T
                            Gene:
                            EPS8L1 (Varview)
                            Functional Consequence:
                            synonymous_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000009/1 (GnomAD_exomes)
                            HGVS:
                            NC_000019.10:g.55081258C>A, NC_000019.10:g.55081258C>T, NC_000019.9:g.55592626C>A, NC_000019.9:g.55592626C>T, NW_003571061.2:g.793419C>A, NW_003571061.2:g.793419C>T, NW_003571061.1:g.793418C>A, NW_003571061.1:g.793418C>T, NW_003571055.2:g.726460C>A, NW_003571055.2:g.726460C>T, NW_003571055.1:g.726459C>A, NW_003571055.1:g.726459C>T, NW_003571059.2:g.999623C>A, NW_003571059.2:g.999623C>T, NW_003571056.2:g.1061244C>A, NW_003571056.2:g.1061244C>T, NW_003571057.2:g.1088781C>A, NW_003571057.2:g.1088781C>T, NW_003571058.2:g.1063330C>A, NW_003571058.2:g.1063330C>T, NT_187693.1:g.1063740C>A, NT_187693.1:g.1063740C>T, NW_003571060.1:g.984040C>A, NW_003571060.1:g.984040C>T, NW_003571054.1:g.984656C>A, NW_003571054.1:g.984656C>T, NW_004166865.1:g.1055626C>A, NW_004166865.1:g.1055626C>T, NM_017729.4:c.159C>A, NM_017729.4:c.159C>T, NM_017729.3:c.159C>A, NM_017729.3:c.159C>T, XM_011527052.4:c.540C>A, XM_011527052.4:c.540C>T, XM_011527052.3:c.540C>A, XM_011527052.3:c.540C>T, XM_011527052.2:c.540C>A, XM_011527052.2:c.540C>T, XM_011527052.1:c.540C>A, XM_011527052.1:c.540C>T, XM_011527051.4:c.540C>A, XM_011527051.4:c.540C>T, XM_011527051.3:c.540C>A, XM_011527051.3:c.540C>T, XM_011527051.2:c.540C>A, XM_011527051.2:c.540C>T, XM_011527051.1:c.540C>A, XM_011527051.1:c.540C>T, XM_005259020.3:c.540C>A, XM_005259020.3:c.540C>T, XM_005259020.2:c.540C>A, XM_005259020.2:c.540C>T, XM_005259020.1:c.540C>A, XM_005259020.1:c.540C>T, NM_133180.3:c.540C>A, NM_133180.3:c.540C>T, NM_133180.2:c.540C>A, NM_133180.2:c.540C>T, XM_047439021.1:c.540C>A, XM_047439021.1:c.540C>T, NM_139204.1:c.486C>A, NM_139204.1:c.486C>T, XM_011527050.2:c.159C>A, XM_011527050.2:c.159C>T, XM_011527050.1:c.159C>A, XM_011527050.1:c.159C>T, XM_047439022.1:c.540C>A, XM_047439022.1:c.540C>T, NP_060199.3:p.Asp53Glu, XP_011525354.1:p.Asp180Glu, XP_011525353.1:p.Asp180Glu, XP_005259077.1:p.Asp180Glu, NP_573441.2:p.Asp180Glu, XP_047294977.1:p.Asp180Glu, XP_011525352.1:p.Asp53Glu, XP_047294978.1:p.Asp180Glu

                            14.

                            rs1468851996 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              19:55080226 (GRCh38)
                              19:55591594 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:55080225:A:C
                              Gene:
                              EPS8L1 (Varview)
                              Functional Consequence:
                              missense_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000007/1 (GnomAD_exomes)
                              HGVS:
                              NC_000019.10:g.55080226A>C, NC_000019.9:g.55591594A>C, NW_003571061.2:g.792387A>C, NW_003571061.1:g.792386A>C, NW_003571055.2:g.725428A>C, NW_003571055.1:g.725427A>C, NW_003571059.2:g.998591A>C, NW_003571056.2:g.1060212A>C, NW_003571057.2:g.1087749A>C, NW_003571058.2:g.1062298A>C, NT_187693.1:g.1062708A>C, NW_003571060.1:g.983008A>C, NW_003571054.1:g.983624A>C, NW_004166865.1:g.1054594A>C, XM_011527052.4:c.377A>C, XM_011527052.3:c.377A>C, XM_011527052.2:c.377A>C, XM_011527052.1:c.377A>C, XM_011527051.4:c.377A>C, XM_011527051.3:c.377A>C, XM_011527051.2:c.377A>C, XM_011527051.1:c.377A>C, XM_005259020.3:c.377A>C, XM_005259020.2:c.377A>C, XM_005259020.1:c.377A>C, NM_133180.3:c.377A>C, NM_133180.2:c.377A>C, XM_047439021.1:c.377A>C, XM_047439022.1:c.377A>C, NM_139204.1:c.323A>C, XP_011525354.1:p.Glu126Ala, XP_011525353.1:p.Glu126Ala, XP_005259077.1:p.Glu126Ala, NP_573441.2:p.Glu126Ala, XP_047294977.1:p.Glu126Ala, XP_047294978.1:p.Glu126Ala

                              15.

                              rs1466823222 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                19:55079792 (GRCh38)
                                19:55591160 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:55079791:C:T
                                Gene:
                                EPS8L1 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,stop_gained,coding_sequence_variant,genic_upstream_transcript_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_000019.10:g.55079792C>T, NC_000019.9:g.55591160C>T, NW_003571061.2:g.791953C>T, NW_003571061.1:g.791952C>T, NW_003571055.2:g.724994C>T, NW_003571055.1:g.724993C>T, NW_003571059.2:g.998157C>T, NW_003571056.2:g.1059778C>T, NW_003571057.2:g.1087315C>T, NW_003571058.2:g.1061864C>T, NT_187693.1:g.1062274C>T, NW_003571060.1:g.982574C>T, NW_003571054.1:g.983190C>T, NW_004166865.1:g.1054160C>T, XM_011527052.4:c.220C>T, XM_011527052.3:c.220C>T, XM_011527052.2:c.220C>T, XM_011527052.1:c.220C>T, XM_011527051.4:c.220C>T, XM_011527051.3:c.220C>T, XM_011527051.2:c.220C>T, XM_011527051.1:c.220C>T, XM_005259020.3:c.220C>T, XM_005259020.2:c.220C>T, XM_005259020.1:c.220C>T, NM_133180.3:c.220C>T, NM_133180.2:c.220C>T, XM_047439021.1:c.220C>T, XM_047439022.1:c.220C>T, NM_139204.1:c.166C>T, XP_011525354.1:p.Gln74Ter, XP_011525353.1:p.Gln74Ter, XP_005259077.1:p.Gln74Ter, NP_573441.2:p.Gln74Ter, XP_047294977.1:p.Gln74Ter, XP_047294978.1:p.Gln74Ter

                                16.

                                rs1463485213 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  19:55081276 (GRCh38)
                                  19:55592644 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:55081275:G:C
                                  Gene:
                                  EPS8L1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000007/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000019.10:g.55081276G>C, NC_000019.9:g.55592644G>C, NW_003571061.2:g.793437G>C, NW_003571061.1:g.793436G>C, NW_003571055.2:g.726478G>C, NW_003571055.1:g.726477G>C, NW_003571059.2:g.999641G>C, NW_003571056.2:g.1061262G>C, NW_003571057.2:g.1088799G>C, NW_003571058.2:g.1063348G>C, NT_187693.1:g.1063758G>C, NW_003571060.1:g.984058G>C, NW_003571054.1:g.984674G>C, NW_004166865.1:g.1055644G>C, NM_017729.4:c.177G>C, NM_017729.3:c.177G>C, XM_011527052.4:c.558G>C, XM_011527052.3:c.558G>C, XM_011527052.2:c.558G>C, XM_011527052.1:c.558G>C, XM_011527051.4:c.558G>C, XM_011527051.3:c.558G>C, XM_011527051.2:c.558G>C, XM_011527051.1:c.558G>C, XM_005259020.3:c.558G>C, XM_005259020.2:c.558G>C, XM_005259020.1:c.558G>C, NM_133180.3:c.558G>C, NM_133180.2:c.558G>C, NM_139204.1:c.504G>C, XM_011527050.2:c.177G>C, XM_011527050.1:c.177G>C, XM_047439022.1:c.558G>C, XM_047439021.1:c.558G>C, NP_060199.3:p.Glu59Asp, XP_011525354.1:p.Glu186Asp, XP_011525353.1:p.Glu186Asp, XP_005259077.1:p.Glu186Asp, NP_573441.2:p.Glu186Asp, XP_011525352.1:p.Glu59Asp, XP_047294978.1:p.Glu186Asp, XP_047294977.1:p.Glu186Asp

                                  17.

                                  rs1462913416 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    19:55081343 (GRCh38)
                                    19:55592711 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:55081342:C:T
                                    Gene:
                                    EPS8L1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0.0001/1 (ALFA)
                                    HGVS:
                                    NC_000019.10:g.55081343C>T, NC_000019.9:g.55592711C>T, NW_003571061.2:g.793504C>T, NW_003571061.1:g.793503C>T, NW_003571055.2:g.726545C>T, NW_003571055.1:g.726544C>T, NW_003571059.2:g.999708C>T, NW_003571056.2:g.1061329C>T, NW_003571057.2:g.1088866C>T, NW_003571058.2:g.1063415C>T, NT_187693.1:g.1063825C>T, NW_003571060.1:g.984125C>T, NW_003571054.1:g.984741C>T, NW_004166865.1:g.1055711C>T, NM_017729.4:c.244C>T, NM_017729.3:c.244C>T, XM_011527052.4:c.625C>T, XM_011527052.3:c.625C>T, XM_011527052.2:c.625C>T, XM_011527052.1:c.625C>T, XM_011527051.4:c.625C>T, XM_011527051.3:c.625C>T, XM_011527051.2:c.625C>T, XM_011527051.1:c.625C>T, XM_005259020.3:c.625C>T, XM_005259020.2:c.625C>T, XM_005259020.1:c.625C>T, NM_133180.3:c.625C>T, NM_133180.2:c.625C>T, NM_139204.1:c.571C>T, XM_011527050.2:c.244C>T, XM_011527050.1:c.244C>T, XM_047439022.1:c.625C>T, XM_047439021.1:c.625C>T, NP_060199.3:p.Arg82Cys, XP_011525354.1:p.Arg209Cys, XP_011525353.1:p.Arg209Cys, XP_005259077.1:p.Arg209Cys, NP_573441.2:p.Arg209Cys, XP_011525352.1:p.Arg82Cys, XP_047294978.1:p.Arg209Cys, XP_047294977.1:p.Arg209Cys

                                    18.

                                    rs1459924268 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      19:55082298 (GRCh38)
                                      19:55593666 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:55082297:C:G,NC_000019.10:55082297:C:T
                                      Gene:
                                      EPS8L1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.00005/1 (ALFA)
                                      HGVS:
                                      NC_000019.10:g.55082298C>G, NC_000019.10:g.55082298C>T, NC_000019.9:g.55593666C>G, NC_000019.9:g.55593666C>T, NW_003571061.2:g.794459C>G, NW_003571061.2:g.794459C>T, NW_003571061.1:g.794458C>G, NW_003571061.1:g.794458C>T, NW_003571055.2:g.727500C>G, NW_003571055.2:g.727500C>T, NW_003571055.1:g.727499C>G, NW_003571055.1:g.727499C>T, NW_003571059.2:g.1000663C>G, NW_003571059.2:g.1000663C>T, NW_003571056.2:g.1062284C>G, NW_003571056.2:g.1062284C>T, NW_003571057.2:g.1089821C>G, NW_003571057.2:g.1089821C>T, NW_003571058.2:g.1064370C>G, NW_003571058.2:g.1064370C>T, NT_187693.1:g.1064780C>G, NT_187693.1:g.1064780C>T, NW_003571060.1:g.985080C>G, NW_003571060.1:g.985080C>T, NW_003571054.1:g.985696C>G, NW_003571054.1:g.985696C>T, NW_004166865.1:g.1056666C>G, NW_004166865.1:g.1056666C>T, NM_017729.4:c.633C>G, NM_017729.4:c.633C>T, NM_017729.3:c.633C>G, NM_017729.3:c.633C>T, XM_011527052.4:c.1014C>G, XM_011527052.4:c.1014C>T, XM_011527052.3:c.1014C>G, XM_011527052.3:c.1014C>T, XM_011527052.2:c.1014C>G, XM_011527052.2:c.1014C>T, XM_011527052.1:c.1014C>G, XM_011527052.1:c.1014C>T, XM_011527051.4:c.1014C>G, XM_011527051.4:c.1014C>T, XM_011527051.3:c.1014C>G, XM_011527051.3:c.1014C>T, XM_011527051.2:c.1014C>G, XM_011527051.2:c.1014C>T, XM_011527051.1:c.1014C>G, XM_011527051.1:c.1014C>T, XM_005259020.3:c.1014C>G, XM_005259020.3:c.1014C>T, XM_005259020.2:c.1014C>G, XM_005259020.2:c.1014C>T, XM_005259020.1:c.1014C>G, XM_005259020.1:c.1014C>T, NM_133180.3:c.1014C>G, NM_133180.3:c.1014C>T, NM_133180.2:c.1014C>G, NM_133180.2:c.1014C>T, XM_011527050.2:c.633C>G, XM_011527050.2:c.633C>T, XM_011527050.1:c.633C>G, XM_011527050.1:c.633C>T, XM_047439022.1:c.1014C>G, XM_047439022.1:c.1014C>T, XM_047439021.1:c.1014C>G, XM_047439021.1:c.1014C>T, NM_139204.1:c.960C>G, NM_139204.1:c.960C>T

                                      19.

                                      rs1459678215 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->C [Show Flanks]
                                        Chromosome:
                                        19:55079000 (GRCh38)
                                        19:55590369 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:55079000:C:CC
                                        Gene:
                                        EPS8L1 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,frameshift_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000019.10:g.55079001dup, NC_000019.9:g.55590369dup, NW_003571061.2:g.791162dup, NW_003571061.1:g.791161dup, NW_003571055.2:g.724203dup, NW_003571055.1:g.724202dup, NW_003571059.2:g.997366dup, NW_003571056.2:g.1058987dup, NW_003571057.2:g.1086524dup, NW_003571058.2:g.1061073dup, NT_187693.1:g.1061483dup, NW_003571060.1:g.981783dup, NW_003571054.1:g.982399dup, NW_004166865.1:g.1053369dup, XM_011527052.4:c.61dup, XM_011527052.3:c.61dup, XM_011527052.2:c.61dup, XM_011527052.1:c.61dup, XM_011527051.4:c.61dup, XM_011527051.3:c.61dup, XM_011527051.2:c.61dup, XM_011527051.1:c.61dup, XM_005259020.3:c.61dup, XM_005259020.2:c.61dup, XM_005259020.1:c.61dup, NM_133180.3:c.61dup, NM_133180.2:c.61dup, XM_047439021.1:c.61dup, XM_047439022.1:c.61dup, XP_011525354.1:p.Gln21fs, XP_011525353.1:p.Gln21fs, XP_005259077.1:p.Gln21fs, NP_573441.2:p.Gln21fs, XP_047294977.1:p.Gln21fs, XP_047294978.1:p.Gln21fs

                                        20.

                                        rs1457705820 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          19:55082159 (GRCh38)
                                          19:55593527 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:55082158:C:G
                                          Gene:
                                          EPS8L1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000009/2 (GnomAD_exomes)
                                          G=0.000019/5 (TOPMED)
                                          HGVS:
                                          NC_000019.10:g.55082159C>G, NC_000019.9:g.55593527C>G, NW_003571061.2:g.794320C>G, NW_003571061.1:g.794319C>G, NW_003571055.2:g.727361C>G, NW_003571055.1:g.727360C>G, NW_003571059.2:g.1000524C>G, NW_003571056.2:g.1062145C>G, NW_003571057.2:g.1089682C>G, NW_003571058.2:g.1064231C>G, NT_187693.1:g.1064641C>G, NW_003571060.1:g.984941C>G, NW_003571054.1:g.985557C>G, NW_004166865.1:g.1056527C>G, NM_017729.4:c.588C>G, NM_017729.3:c.588C>G, XM_011527052.4:c.969C>G, XM_011527052.3:c.969C>G, XM_011527052.2:c.969C>G, XM_011527052.1:c.969C>G, XM_011527051.4:c.969C>G, XM_011527051.3:c.969C>G, XM_011527051.2:c.969C>G, XM_011527051.1:c.969C>G, XM_005259020.3:c.969C>G, XM_005259020.2:c.969C>G, XM_005259020.1:c.969C>G, NM_133180.3:c.969C>G, NM_133180.2:c.969C>G, XM_011527050.2:c.588C>G, XM_011527050.1:c.588C>G, XM_047439022.1:c.969C>G, XM_047439021.1:c.969C>G, NM_139204.1:c.915C>G, NP_060199.3:p.Ile196Met, XP_011525354.1:p.Ile323Met, XP_011525353.1:p.Ile323Met, XP_005259077.1:p.Ile323Met, NP_573441.2:p.Ile323Met, XP_011525352.1:p.Ile196Met, XP_047294978.1:p.Ile323Met, XP_047294977.1:p.Ile323Met

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