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Items: 1 to 20 of 377

1.

rs1484859360 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    3:39102761 (GRCh38)
    3:39144252 (GRCh37)
    Canonical SPDI:
    NC_000003.12:39102760:T:A
    Gene:
    GORASP1 (Varview)
    Functional Consequence:
    coding_sequence_variant,intron_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_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_000003.12:g.39102761T>A, NC_000003.11:g.39144252T>A, XM_006713301.5:c.280A>T, XM_006713301.4:c.280A>T, XM_006713301.3:c.280A>T, XM_006713301.2:c.280A>T, XM_006713301.1:c.280A>T, XM_011534020.4:c.280A>T, XM_011534020.3:c.280A>T, XM_011534020.2:c.280A>T, XM_011534020.1:c.280A>T, XM_011534021.4:c.280A>T, XM_011534021.3:c.280A>T, XM_011534021.2:c.280A>T, XM_011534021.1:c.280A>T, NM_031899.4:c.265A>T, NM_031899.3:c.265A>T, XR_940494.4:n.1182A>T, XR_940494.3:n.1203A>T, XR_940494.2:n.1187A>T, XR_940494.1:n.771A>T, XM_017007050.3:c.265A>T, XM_017007051.3:c.265A>T, NR_103866.2:n.351A>T, NR_103866.1:n.624A>T, NR_103867.2:n.351A>T, NR_103867.1:n.624A>T, XM_047448729.1:c.-76A>T, NM_001410726.1:c.265A>T, NM_001410731.1:c.265A>T, XM_047448725.1:c.280A>T, XM_047448727.1:c.280A>T, XM_047448728.1:c.265A>T, XP_006713364.1:p.Met94Leu, XP_011532322.1:p.Met94Leu, XP_011532323.1:p.Met94Leu, NP_114105.1:p.Met89Leu, XP_016862539.1:p.Met89Leu, XP_016862540.1:p.Met89Leu, XP_047304681.1:p.Met94Leu, XP_047304683.1:p.Met94Leu, XP_047304684.1:p.Met89Leu

    2.

    rs1479168148 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      3:39098831 (GRCh38)
      3:39140322 (GRCh37)
      Canonical SPDI:
      NC_000003.12:39098830:G:A,NC_000003.12:39098830:G:C
      Gene:
      GORASP1 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      A=0.000011/3 (TOPMED)
      HGVS:
      NC_000003.12:g.39098831G>A, NC_000003.12:g.39098831G>C, NC_000003.11:g.39140322G>A, NC_000003.11:g.39140322G>C, XM_006713301.5:c.994C>T, XM_006713301.5:c.994C>G, XM_006713301.4:c.994C>T, XM_006713301.4:c.994C>G, XM_006713301.3:c.994C>T, XM_006713301.3:c.994C>G, XM_006713301.2:c.994C>T, XM_006713301.2:c.994C>G, XM_006713301.1:c.994C>T, XM_006713301.1:c.994C>G, XM_011534020.4:c.904C>T, XM_011534020.4:c.904C>G, XM_011534020.3:c.904C>T, XM_011534020.3:c.904C>G, XM_011534020.2:c.904C>T, XM_011534020.2:c.904C>G, XM_011534020.1:c.904C>T, XM_011534020.1:c.904C>G, XM_011534021.4:c.814C>T, XM_011534021.4:c.814C>G, XM_011534021.3:c.814C>T, XM_011534021.3:c.814C>G, XM_011534021.2:c.814C>T, XM_011534021.2:c.814C>G, XM_011534021.1:c.814C>T, XM_011534021.1:c.814C>G, NM_031899.4:c.979C>T, NM_031899.4:c.979C>G, NM_031899.3:c.979C>T, NM_031899.3:c.979C>G, XM_017007050.3:c.889C>T, XM_017007050.3:c.889C>G, XM_017007051.3:c.799C>T, XM_017007051.3:c.799C>G, NR_103866.2:n.1024C>T, NR_103866.2:n.1024C>G, NR_103866.1:n.1297C>T, NR_103866.1:n.1297C>G, NR_103867.2:n.1016C>T, NR_103867.2:n.1016C>G, NR_103867.1:n.1289C>T, NR_103867.1:n.1289C>G, NM_001278789.2:c.694C>T, NM_001278789.2:c.694C>G, NM_001278789.1:c.694C>T, NM_001278789.1:c.694C>G, NM_001278790.2:c.514C>T, NM_001278790.2:c.514C>G, NM_001278790.1:c.514C>T, NM_001278790.1:c.514C>G, XM_047448729.1:c.508C>T, XM_047448729.1:c.508C>G, NM_001410726.1:c.889C>T, NM_001410726.1:c.889C>G, NM_001410731.1:c.799C>T, NM_001410731.1:c.799C>G, XM_047448726.1:c.604C>T, XM_047448726.1:c.604C>G, XM_047448725.1:c.945C>T, XM_047448725.1:c.945C>G, XM_047448727.1:c.924C>T, XM_047448727.1:c.924C>G, XM_047448728.1:c.909C>T, XM_047448728.1:c.909C>G, XM_047448730.1:c.645C>T, XM_047448730.1:c.645C>G, XP_006713364.1:p.Leu332Val, XP_011532322.1:p.Leu302Val, XP_011532323.1:p.Leu272Val, NP_114105.1:p.Leu327Val, XP_016862539.1:p.Leu297Val, XP_016862540.1:p.Leu267Val, NP_001265718.1:p.Leu232Val, NP_001265719.1:p.Leu172Val, XP_047304685.1:p.Leu170Val, XP_047304682.1:p.Leu202Val

      3.

      rs1476815631 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        3:39098337 (GRCh38)
        3:39139828 (GRCh37)
        Canonical SPDI:
        NC_000003.12:39098336:C:G
        Gene:
        GORASP1 (Varview)
        Functional Consequence:
        coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000008/2 (GnomAD_exomes)
        G=0.000015/4 (TOPMED)
        G=0.000021/3 (GnomAD)
        HGVS:
        NC_000003.12:g.39098337C>G, NC_000003.11:g.39139828C>G, NG_051663.1:g.51352C>G, XM_006713301.5:c.1237G>C, XM_006713301.4:c.1237G>C, XM_006713301.3:c.1237G>C, XM_006713301.2:c.1237G>C, XM_006713301.1:c.1237G>C, XM_011534020.4:c.1147G>C, XM_011534020.3:c.1147G>C, XM_011534020.2:c.1147G>C, XM_011534020.1:c.1147G>C, XM_011534021.4:c.1057G>C, XM_011534021.3:c.1057G>C, XM_011534021.2:c.1057G>C, XM_011534021.1:c.1057G>C, NM_031899.4:c.1222G>C, NM_031899.3:c.1222G>C, XM_017007050.3:c.1132G>C, XM_017007051.3:c.1042G>C, NR_103866.2:n.1267G>C, NR_103866.1:n.1540G>C, NR_103867.2:n.1259G>C, NR_103867.1:n.1532G>C, NM_001278789.2:c.937G>C, NM_001278789.1:c.937G>C, NM_001278790.2:c.757G>C, NM_001278790.1:c.757G>C, XM_047448729.1:c.751G>C, NM_001410726.1:c.1132G>C, NM_001410731.1:c.1042G>C, XM_047448726.1:c.847G>C, XP_006713364.1:p.Glu413Gln, XP_011532322.1:p.Glu383Gln, XP_011532323.1:p.Glu353Gln, NP_114105.1:p.Glu408Gln, XP_016862539.1:p.Glu378Gln, XP_016862540.1:p.Glu348Gln, NP_001265718.1:p.Glu313Gln, NP_001265719.1:p.Glu253Gln, XP_047304685.1:p.Glu251Gln, XP_047304682.1:p.Glu283Gln

        4.

        rs1476400660 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          3:39102841 (GRCh38)
          3:39144332 (GRCh37)
          Canonical SPDI:
          NC_000003.12:39102840:T:C
          Gene:
          GORASP1 (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0./0 (GnomAD)
          HGVS:
          NC_000003.12:g.39102841T>C, NC_000003.11:g.39144332T>C, XM_006713301.5:c.200A>G, XM_006713301.4:c.200A>G, XM_006713301.3:c.200A>G, XM_006713301.2:c.200A>G, XM_006713301.1:c.200A>G, XM_011534020.4:c.200A>G, XM_011534020.3:c.200A>G, XM_011534020.2:c.200A>G, XM_011534020.1:c.200A>G, XM_011534021.4:c.200A>G, XM_011534021.3:c.200A>G, XM_011534021.2:c.200A>G, XM_011534021.1:c.200A>G, NM_031899.4:c.185A>G, NM_031899.3:c.185A>G, XR_940494.4:n.1102A>G, XR_940494.3:n.1123A>G, XR_940494.2:n.1107A>G, XR_940494.1:n.691A>G, XM_017007050.3:c.185A>G, XM_017007051.3:c.185A>G, NR_103866.2:n.271A>G, NR_103866.1:n.544A>G, NR_103867.2:n.271A>G, NR_103867.1:n.544A>G, XM_047448729.1:c.-156A>G, NM_001410726.1:c.185A>G, NM_001410731.1:c.185A>G, XM_047448725.1:c.200A>G, XM_047448727.1:c.200A>G, XM_047448728.1:c.185A>G, XP_006713364.1:p.Asn67Ser, XP_011532322.1:p.Asn67Ser, XP_011532323.1:p.Asn67Ser, NP_114105.1:p.Asn62Ser, XP_016862539.1:p.Asn62Ser, XP_016862540.1:p.Asn62Ser, XP_047304681.1:p.Asn67Ser, XP_047304683.1:p.Asn67Ser, XP_047304684.1:p.Asn62Ser

          5.

          rs1473166035 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            3:39100421 (GRCh38)
            3:39141912 (GRCh37)
            Canonical SPDI:
            NC_000003.12:39100420:G:A
            Gene:
            GORASP1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000108/2 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            A=0.000007/1 (GnomAD)
            A=0.000011/3 (TOPMED)
            A=0.000223/1 (Estonian)
            HGVS:
            NC_000003.12:g.39100421G>A, NC_000003.11:g.39141912G>A, XM_006713301.5:c.664C>T, XM_006713301.4:c.664C>T, XM_006713301.3:c.664C>T, XM_006713301.2:c.664C>T, XM_006713301.1:c.664C>T, XM_011534020.4:c.574C>T, XM_011534020.3:c.574C>T, XM_011534020.2:c.574C>T, XM_011534020.1:c.574C>T, XM_011534021.4:c.484C>T, XM_011534021.3:c.484C>T, XM_011534021.2:c.484C>T, XM_011534021.1:c.484C>T, NM_031899.4:c.649C>T, NM_031899.3:c.649C>T, XR_940494.4:n.1525C>T, XR_940494.3:n.1546C>T, XR_940494.2:n.1530C>T, XR_940494.1:n.1114C>T, XM_017007050.3:c.559C>T, XM_017007051.3:c.469C>T, NR_103866.2:n.694C>T, NR_103866.1:n.967C>T, NR_103867.2:n.686C>T, NR_103867.1:n.959C>T, NM_001278789.2:c.364C>T, NM_001278789.1:c.364C>T, NM_001278790.2:c.184C>T, NM_001278790.1:c.184C>T, XM_047448729.1:c.178C>T, NM_001410726.1:c.559C>T, NM_001410731.1:c.469C>T, XM_047448726.1:c.274C>T, XM_047448725.1:c.615C>T, XM_047448727.1:c.594C>T, XM_047448728.1:c.579C>T, XM_047448730.1:c.315C>T, XP_006713364.1:p.Pro222Ser, XP_011532322.1:p.Pro192Ser, XP_011532323.1:p.Pro162Ser, NP_114105.1:p.Pro217Ser, XP_016862539.1:p.Pro187Ser, XP_016862540.1:p.Pro157Ser, NP_001265718.1:p.Pro122Ser, NP_001265719.1:p.Pro62Ser, XP_047304685.1:p.Pro60Ser, XP_047304682.1:p.Pro92Ser

            6.

            rs1471960391 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              3:39098411 (GRCh38)
              3:39139902 (GRCh37)
              Canonical SPDI:
              NC_000003.12:39098410:A:G
              Gene:
              GORASP1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000003.12:g.39098411A>G, NC_000003.11:g.39139902A>G, NG_051663.1:g.51426A>G, XM_006713301.5:c.1163T>C, XM_006713301.4:c.1163T>C, XM_006713301.3:c.1163T>C, XM_006713301.2:c.1163T>C, XM_006713301.1:c.1163T>C, XM_011534020.4:c.1073T>C, XM_011534020.3:c.1073T>C, XM_011534020.2:c.1073T>C, XM_011534020.1:c.1073T>C, XM_011534021.4:c.983T>C, XM_011534021.3:c.983T>C, XM_011534021.2:c.983T>C, XM_011534021.1:c.983T>C, NM_031899.4:c.1148T>C, NM_031899.3:c.1148T>C, XM_017007050.3:c.1058T>C, XM_017007051.3:c.968T>C, NR_103866.2:n.1193T>C, NR_103866.1:n.1466T>C, NR_103867.2:n.1185T>C, NR_103867.1:n.1458T>C, NM_001278789.2:c.863T>C, NM_001278789.1:c.863T>C, NM_001278790.2:c.683T>C, NM_001278790.1:c.683T>C, XM_047448729.1:c.677T>C, NM_001410726.1:c.1058T>C, NM_001410731.1:c.968T>C, XM_047448726.1:c.773T>C, XP_006713364.1:p.Leu388Pro, XP_011532322.1:p.Leu358Pro, XP_011532323.1:p.Leu328Pro, NP_114105.1:p.Leu383Pro, XP_016862539.1:p.Leu353Pro, XP_016862540.1:p.Leu323Pro, NP_001265718.1:p.Leu288Pro, NP_001265719.1:p.Leu228Pro, XP_047304685.1:p.Leu226Pro, XP_047304682.1:p.Leu258Pro

              7.

              rs1471268871 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                3:39099474 (GRCh38)
                3:39140965 (GRCh37)
                Canonical SPDI:
                NC_000003.12:39099473:C:A
                Gene:
                GORASP1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                HGVS:
                NC_000003.12:g.39099474C>A, NC_000003.11:g.39140965C>A, XM_006713301.5:c.810G>T, XM_006713301.4:c.810G>T, XM_006713301.3:c.810G>T, XM_006713301.2:c.810G>T, XM_006713301.1:c.810G>T, XM_011534020.4:c.720G>T, XM_011534020.3:c.720G>T, XM_011534020.2:c.720G>T, XM_011534020.1:c.720G>T, XM_011534021.4:c.630G>T, XM_011534021.3:c.630G>T, XM_011534021.2:c.630G>T, XM_011534021.1:c.630G>T, NM_031899.4:c.795G>T, NM_031899.3:c.795G>T, XR_940494.4:n.1671G>T, XR_940494.3:n.1692G>T, XR_940494.2:n.1676G>T, XR_940494.1:n.1260G>T, XM_017007050.3:c.705G>T, XM_017007051.3:c.615G>T, NR_103866.2:n.840G>T, NR_103866.1:n.1113G>T, NR_103867.2:n.832G>T, NR_103867.1:n.1105G>T, NM_001278789.2:c.510G>T, NM_001278789.1:c.510G>T, NM_001278790.2:c.330G>T, NM_001278790.1:c.330G>T, XM_047448729.1:c.324G>T, NM_001410726.1:c.705G>T, NM_001410731.1:c.615G>T, XM_047448726.1:c.420G>T, XM_047448725.1:c.761G>T, XM_047448727.1:c.740G>T, XM_047448728.1:c.725G>T, XM_047448730.1:c.461G>T, XP_006713364.1:p.Met270Ile, XP_011532322.1:p.Met240Ile, XP_011532323.1:p.Met210Ile, NP_114105.1:p.Met265Ile, XP_016862539.1:p.Met235Ile, XP_016862540.1:p.Met205Ile, NP_001265718.1:p.Met170Ile, NP_001265719.1:p.Met110Ile, XP_047304685.1:p.Met108Ile, XP_047304682.1:p.Met140Ile, XP_047304681.1:p.Trp254Leu, XP_047304683.1:p.Trp247Leu, XP_047304684.1:p.Trp242Leu, XP_047304686.1:p.Trp154Leu

                8.

                rs1466070544 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  3:39100322 (GRCh38)
                  3:39141813 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:39100321:G:A
                  Gene:
                  GORASP1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,stop_gained,synonymous_variant,coding_sequence_variant
                  HGVS:
                  NC_000003.12:g.39100322G>A, NC_000003.11:g.39141813G>A, XM_006713301.5:c.763C>T, XM_006713301.4:c.763C>T, XM_006713301.3:c.763C>T, XM_006713301.2:c.763C>T, XM_006713301.1:c.763C>T, XM_011534020.4:c.673C>T, XM_011534020.3:c.673C>T, XM_011534020.2:c.673C>T, XM_011534020.1:c.673C>T, XM_011534021.4:c.583C>T, XM_011534021.3:c.583C>T, XM_011534021.2:c.583C>T, XM_011534021.1:c.583C>T, NM_031899.4:c.748C>T, NM_031899.3:c.748C>T, XR_940494.4:n.1624C>T, XR_940494.3:n.1645C>T, XR_940494.2:n.1629C>T, XR_940494.1:n.1213C>T, XM_017007050.3:c.658C>T, XM_017007051.3:c.568C>T, NR_103866.2:n.793C>T, NR_103866.1:n.1066C>T, NR_103867.2:n.785C>T, NR_103867.1:n.1058C>T, NM_001278789.2:c.463C>T, NM_001278789.1:c.463C>T, NM_001278790.2:c.283C>T, NM_001278790.1:c.283C>T, XM_047448729.1:c.277C>T, NM_001410726.1:c.658C>T, NM_001410731.1:c.568C>T, XM_047448726.1:c.373C>T, XM_047448725.1:c.714C>T, XM_047448727.1:c.693C>T, XM_047448728.1:c.678C>T, XM_047448730.1:c.414C>T, XP_006713364.1:p.Gln255Ter, XP_011532322.1:p.Gln225Ter, XP_011532323.1:p.Gln195Ter, NP_114105.1:p.Gln250Ter, XP_016862539.1:p.Gln220Ter, XP_016862540.1:p.Gln190Ter, NP_001265718.1:p.Gln155Ter, NP_001265719.1:p.Gln95Ter, XP_047304685.1:p.Gln93Ter, XP_047304682.1:p.Gln125Ter

                  9.

                  rs1462921895 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    3:39098294 (GRCh38)
                    3:39139785 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:39098293:T:C
                    Gene:
                    GORASP1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_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_000003.12:g.39098294T>C, NC_000003.11:g.39139785T>C, NG_051663.1:g.51309T>C, XM_006713301.5:c.1280A>G, XM_006713301.4:c.1280A>G, XM_006713301.3:c.1280A>G, XM_006713301.2:c.1280A>G, XM_006713301.1:c.1280A>G, XM_011534020.4:c.1190A>G, XM_011534020.3:c.1190A>G, XM_011534020.2:c.1190A>G, XM_011534020.1:c.1190A>G, XM_011534021.4:c.1100A>G, XM_011534021.3:c.1100A>G, XM_011534021.2:c.1100A>G, XM_011534021.1:c.1100A>G, NM_031899.4:c.1265A>G, NM_031899.3:c.1265A>G, XM_017007050.3:c.1175A>G, XM_017007051.3:c.1085A>G, NR_103866.2:n.1310A>G, NR_103866.1:n.1583A>G, NR_103867.2:n.1302A>G, NR_103867.1:n.1575A>G, NM_001278789.2:c.980A>G, NM_001278789.1:c.980A>G, NM_001278790.2:c.800A>G, NM_001278790.1:c.800A>G, XM_047448729.1:c.794A>G, NM_001410726.1:c.1175A>G, NM_001410731.1:c.1085A>G, XM_047448726.1:c.890A>G, XP_006713364.1:p.Asp427Gly, XP_011532322.1:p.Asp397Gly, XP_011532323.1:p.Asp367Gly, NP_114105.1:p.Asp422Gly, XP_016862539.1:p.Asp392Gly, XP_016862540.1:p.Asp362Gly, NP_001265718.1:p.Asp327Gly, NP_001265719.1:p.Asp267Gly, XP_047304685.1:p.Asp265Gly, XP_047304682.1:p.Asp297Gly

                    10.

                    rs1451879841 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      3:39106457 (GRCh38)
                      3:39147948 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:39106456:A:C
                      Gene:
                      GORASP1 (Varview), TTC21A (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      C=0.000011/3 (TOPMED)
                      HGVS:

                      11.

                      rs1444993416 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        3:39103531 (GRCh38)
                        3:39145022 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:39103530:T:G
                        Gene:
                        GORASP1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000003.12:g.39103531T>G, NC_000003.11:g.39145022T>G, XM_006713301.5:c.101A>C, XM_006713301.4:c.101A>C, XM_006713301.3:c.101A>C, XM_006713301.2:c.101A>C, XM_006713301.1:c.101A>C, XM_011534020.4:c.101A>C, XM_011534020.3:c.101A>C, XM_011534020.2:c.101A>C, XM_011534020.1:c.101A>C, XM_011534021.4:c.101A>C, XM_011534021.3:c.101A>C, XM_011534021.2:c.101A>C, XM_011534021.1:c.101A>C, NM_031899.4:c.86A>C, NM_031899.3:c.86A>C, XR_940494.4:n.1003A>C, XR_940494.3:n.1024A>C, XR_940494.2:n.1008A>C, XR_940494.1:n.592A>C, XM_017007050.3:c.86A>C, XM_017007051.3:c.86A>C, NR_103866.2:n.172A>C, NR_103866.1:n.445A>C, NR_103867.2:n.172A>C, NR_103867.1:n.445A>C, NM_001410726.1:c.86A>C, NM_001410731.1:c.86A>C, XM_047448725.1:c.101A>C, XM_047448727.1:c.101A>C, XM_047448728.1:c.86A>C, XP_006713364.1:p.Gln34Pro, XP_011532322.1:p.Gln34Pro, XP_011532323.1:p.Gln34Pro, NP_114105.1:p.Gln29Pro, XP_016862539.1:p.Gln29Pro, XP_016862540.1:p.Gln29Pro, XP_047304681.1:p.Gln34Pro, XP_047304683.1:p.Gln34Pro, XP_047304684.1:p.Gln29Pro

                        12.

                        rs1439933634 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          3:39098406 (GRCh38)
                          3:39139897 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:39098405:G:A
                          Gene:
                          GORASP1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,stop_gained
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000003.12:g.39098406G>A, NC_000003.11:g.39139897G>A, NG_051663.1:g.51421G>A, XM_006713301.5:c.1168C>T, XM_006713301.4:c.1168C>T, XM_006713301.3:c.1168C>T, XM_006713301.2:c.1168C>T, XM_006713301.1:c.1168C>T, XM_011534020.4:c.1078C>T, XM_011534020.3:c.1078C>T, XM_011534020.2:c.1078C>T, XM_011534020.1:c.1078C>T, XM_011534021.4:c.988C>T, XM_011534021.3:c.988C>T, XM_011534021.2:c.988C>T, XM_011534021.1:c.988C>T, NM_031899.4:c.1153C>T, NM_031899.3:c.1153C>T, XM_017007050.3:c.1063C>T, XM_017007051.3:c.973C>T, NR_103866.2:n.1198C>T, NR_103866.1:n.1471C>T, NR_103867.2:n.1190C>T, NR_103867.1:n.1463C>T, NM_001278789.2:c.868C>T, NM_001278789.1:c.868C>T, NM_001278790.2:c.688C>T, NM_001278790.1:c.688C>T, XM_047448729.1:c.682C>T, NM_001410726.1:c.1063C>T, NM_001410731.1:c.973C>T, XM_047448726.1:c.778C>T, XP_006713364.1:p.Gln390Ter, XP_011532322.1:p.Gln360Ter, XP_011532323.1:p.Gln330Ter, NP_114105.1:p.Gln385Ter, XP_016862539.1:p.Gln355Ter, XP_016862540.1:p.Gln325Ter, NP_001265718.1:p.Gln290Ter, NP_001265719.1:p.Gln230Ter, XP_047304685.1:p.Gln228Ter, XP_047304682.1:p.Gln260Ter

                          13.

                          rs1437323053 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            3:39106421 (GRCh38)
                            3:39147912 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:39106420:T:A
                            Gene:
                            GORASP1 (Varview), TTC21A (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000011/3 (TOPMED)
                            HGVS:

                            14.

                            rs1437184136 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              3:39102807 (GRCh38)
                              3:39144298 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:39102806:A:G
                              Gene:
                              GORASP1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,intron_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000003.12:g.39102807A>G, NC_000003.11:g.39144298A>G, XM_006713301.5:c.234T>C, XM_006713301.4:c.234T>C, XM_006713301.3:c.234T>C, XM_006713301.2:c.234T>C, XM_006713301.1:c.234T>C, XM_011534020.4:c.234T>C, XM_011534020.3:c.234T>C, XM_011534020.2:c.234T>C, XM_011534020.1:c.234T>C, XM_011534021.4:c.234T>C, XM_011534021.3:c.234T>C, XM_011534021.2:c.234T>C, XM_011534021.1:c.234T>C, NM_031899.4:c.219T>C, NM_031899.3:c.219T>C, XR_940494.4:n.1136T>C, XR_940494.3:n.1157T>C, XR_940494.2:n.1141T>C, XR_940494.1:n.725T>C, XM_017007050.3:c.219T>C, XM_017007051.3:c.219T>C, NR_103866.2:n.305T>C, NR_103866.1:n.578T>C, NR_103867.2:n.305T>C, NR_103867.1:n.578T>C, XM_047448729.1:c.-122T>C, NM_001410726.1:c.219T>C, NM_001410731.1:c.219T>C, XM_047448725.1:c.234T>C, XM_047448727.1:c.234T>C, XM_047448728.1:c.219T>C

                              15.

                              rs1437011081 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                3:39098295 (GRCh38)
                                3:39139786 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:39098294:C:G
                                Gene:
                                GORASP1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,downstream_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000003.12:g.39098295C>G, NC_000003.11:g.39139786C>G, NG_051663.1:g.51310C>G, XM_006713301.5:c.1279G>C, XM_006713301.4:c.1279G>C, XM_006713301.3:c.1279G>C, XM_006713301.2:c.1279G>C, XM_006713301.1:c.1279G>C, XM_011534020.4:c.1189G>C, XM_011534020.3:c.1189G>C, XM_011534020.2:c.1189G>C, XM_011534020.1:c.1189G>C, XM_011534021.4:c.1099G>C, XM_011534021.3:c.1099G>C, XM_011534021.2:c.1099G>C, XM_011534021.1:c.1099G>C, NM_031899.4:c.1264G>C, NM_031899.3:c.1264G>C, XM_017007050.3:c.1174G>C, XM_017007051.3:c.1084G>C, NR_103866.2:n.1309G>C, NR_103866.1:n.1582G>C, NR_103867.2:n.1301G>C, NR_103867.1:n.1574G>C, NM_001278789.2:c.979G>C, NM_001278789.1:c.979G>C, NM_001278790.2:c.799G>C, NM_001278790.1:c.799G>C, XM_047448729.1:c.793G>C, NM_001410726.1:c.1174G>C, NM_001410731.1:c.1084G>C, XM_047448726.1:c.889G>C, XP_006713364.1:p.Asp427His, XP_011532322.1:p.Asp397His, XP_011532323.1:p.Asp367His, NP_114105.1:p.Asp422His, XP_016862539.1:p.Asp392His, XP_016862540.1:p.Asp362His, NP_001265718.1:p.Asp327His, NP_001265719.1:p.Asp267His, XP_047304685.1:p.Asp265His, XP_047304682.1:p.Asp297His

                                16.

                                rs1436894943 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  3:39098797 (GRCh38)
                                  3:39140288 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:39098796:A:G
                                  Gene:
                                  GORASP1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000003.12:g.39098797A>G, NC_000003.11:g.39140288A>G, XM_006713301.5:c.1028T>C, XM_006713301.4:c.1028T>C, XM_006713301.3:c.1028T>C, XM_006713301.2:c.1028T>C, XM_006713301.1:c.1028T>C, XM_011534020.4:c.938T>C, XM_011534020.3:c.938T>C, XM_011534020.2:c.938T>C, XM_011534020.1:c.938T>C, XM_011534021.4:c.848T>C, XM_011534021.3:c.848T>C, XM_011534021.2:c.848T>C, XM_011534021.1:c.848T>C, NM_031899.4:c.1013T>C, NM_031899.3:c.1013T>C, XM_017007050.3:c.923T>C, XM_017007051.3:c.833T>C, NR_103866.2:n.1058T>C, NR_103866.1:n.1331T>C, NR_103867.2:n.1050T>C, NR_103867.1:n.1323T>C, NM_001278789.2:c.728T>C, NM_001278789.1:c.728T>C, NM_001278790.2:c.548T>C, NM_001278790.1:c.548T>C, XM_047448729.1:c.542T>C, NM_001410726.1:c.923T>C, NM_001410731.1:c.833T>C, XM_047448726.1:c.638T>C, XM_047448725.1:c.*13T>C, XM_047448727.1:c.*13T>C, XM_047448728.1:c.*13T>C, XM_047448730.1:c.*13T>C, XP_006713364.1:p.Val343Ala, XP_011532322.1:p.Val313Ala, XP_011532323.1:p.Val283Ala, NP_114105.1:p.Val338Ala, XP_016862539.1:p.Val308Ala, XP_016862540.1:p.Val278Ala, NP_001265718.1:p.Val243Ala, NP_001265719.1:p.Val183Ala, XP_047304685.1:p.Val181Ala, XP_047304682.1:p.Val213Ala

                                  17.

                                  rs1423420594 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    3:39098238 (GRCh38)
                                    3:39139729 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:39098237:A:G
                                    Gene:
                                    GORASP1 (Varview)
                                    Functional Consequence:
                                    terminator_codon_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,stop_lost
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000003.12:g.39098238A>G, NC_000003.11:g.39139729A>G, NG_051663.1:g.51253A>G, XM_006713301.5:c.1336T>C, XM_006713301.4:c.1336T>C, XM_006713301.3:c.1336T>C, XM_006713301.2:c.1336T>C, XM_006713301.1:c.1336T>C, XM_011534020.4:c.1246T>C, XM_011534020.3:c.1246T>C, XM_011534020.2:c.1246T>C, XM_011534020.1:c.1246T>C, XM_011534021.4:c.1156T>C, XM_011534021.3:c.1156T>C, XM_011534021.2:c.1156T>C, XM_011534021.1:c.1156T>C, NM_031899.4:c.1321T>C, NM_031899.3:c.1321T>C, XM_017007050.3:c.1231T>C, XM_017007051.3:c.1141T>C, NR_103866.2:n.1366T>C, NR_103866.1:n.1639T>C, NR_103867.2:n.1358T>C, NR_103867.1:n.1631T>C, NM_001278789.2:c.1036T>C, NM_001278789.1:c.1036T>C, NM_001278790.2:c.856T>C, NM_001278790.1:c.856T>C, XM_047448729.1:c.850T>C, NM_001410726.1:c.1231T>C, NM_001410731.1:c.1141T>C, XM_047448726.1:c.946T>C, XP_006713364.1:p.Ter446Gln, XP_011532322.1:p.Ter416Gln, XP_011532323.1:p.Ter386Gln, NP_114105.1:p.Ter441Gln, XP_016862539.1:p.Ter411Gln, XP_016862540.1:p.Ter381Gln, NP_001265718.1:p.Ter346Gln, NP_001265719.1:p.Ter286Gln, XP_047304685.1:p.Ter284Gln, XP_047304682.1:p.Ter316Gln

                                    18.

                                    rs1417469545 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->A [Show Flanks]
                                      Chromosome:
                                      3:39102678 (GRCh38)
                                      3:39144170 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:39102678:A:AA
                                      Gene:
                                      GORASP1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,non_coding_transcript_variant,frameshift_variant,intron_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000003.12:g.39102679dup, NC_000003.11:g.39144170dup, XM_006713301.5:c.362dup, XM_006713301.4:c.362dup, XM_006713301.3:c.362dup, XM_006713301.2:c.362dup, XM_006713301.1:c.362dup, XM_011534020.4:c.362dup, XM_011534020.3:c.362dup, XM_011534020.2:c.362dup, XM_011534020.1:c.362dup, XM_011534021.4:c.362dup, XM_011534021.3:c.362dup, XM_011534021.2:c.362dup, XM_011534021.1:c.362dup, NM_031899.4:c.347dup, NM_031899.3:c.347dup, XR_940494.4:n.1264dup, XR_940494.3:n.1285dup, XR_940494.2:n.1269dup, XR_940494.1:n.853dup, XM_017007050.3:c.347dup, XM_017007051.3:c.347dup, NR_103866.2:n.433dup, NR_103866.1:n.706dup, NR_103867.2:n.433dup, NR_103867.1:n.706dup, XM_047448729.1:c.7dup, NM_001410726.1:c.347dup, NM_001410731.1:c.347dup, XM_047448725.1:c.362dup, XM_047448727.1:c.362dup, XM_047448728.1:c.347dup, XP_006713364.1:p.Asp122fs, XP_011532322.1:p.Asp122fs, XP_011532323.1:p.Asp122fs, NP_114105.1:p.Asp117fs, XP_016862539.1:p.Asp117fs, XP_016862540.1:p.Asp117fs, XP_047304685.1:p.Trp3fs, XP_047304681.1:p.Asp122fs, XP_047304683.1:p.Glu122fs, XP_047304684.1:p.Glu117fs

                                      19.

                                      rs1416002288 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        3:39102727 (GRCh38)
                                        3:39144218 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:39102726:A:G
                                        Gene:
                                        GORASP1 (Varview)
                                        Functional Consequence:
                                        5_prime_UTR_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000003.12:g.39102727A>G, NC_000003.11:g.39144218A>G, XM_006713301.5:c.314T>C, XM_006713301.4:c.314T>C, XM_006713301.3:c.314T>C, XM_006713301.2:c.314T>C, XM_006713301.1:c.314T>C, XM_011534020.4:c.314T>C, XM_011534020.3:c.314T>C, XM_011534020.2:c.314T>C, XM_011534020.1:c.314T>C, XM_011534021.4:c.314T>C, XM_011534021.3:c.314T>C, XM_011534021.2:c.314T>C, XM_011534021.1:c.314T>C, NM_031899.4:c.299T>C, NM_031899.3:c.299T>C, XR_940494.4:n.1216T>C, XR_940494.3:n.1237T>C, XR_940494.2:n.1221T>C, XR_940494.1:n.805T>C, XM_017007050.3:c.299T>C, XM_017007051.3:c.299T>C, NR_103866.2:n.385T>C, NR_103866.1:n.658T>C, NR_103867.2:n.385T>C, NR_103867.1:n.658T>C, XM_047448729.1:c.-42T>C, NM_001410726.1:c.299T>C, NM_001410731.1:c.299T>C, XM_047448725.1:c.314T>C, XM_047448727.1:c.314T>C, XM_047448728.1:c.299T>C, XP_006713364.1:p.Val105Ala, XP_011532322.1:p.Val105Ala, XP_011532323.1:p.Val105Ala, NP_114105.1:p.Val100Ala, XP_016862539.1:p.Val100Ala, XP_016862540.1:p.Val100Ala, XP_047304681.1:p.Val105Ala, XP_047304683.1:p.Val105Ala, XP_047304684.1:p.Val100Ala

                                        20.

                                        rs1415678756 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TCA>- [Show Flanks]
                                          Chromosome:
                                          3:39099421 (GRCh38)
                                          3:39140912 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:39099418:CATCA:CA
                                          Gene:
                                          GORASP1 (Varview)
                                          Functional Consequence:
                                          inframe_deletion,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          -=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000003.12:g.39099421_39099423del, NC_000003.11:g.39140912_39140914del, XM_006713301.5:c.863_865del, XM_006713301.4:c.863_865del, XM_006713301.3:c.863_865del, XM_006713301.2:c.863_865del, XM_006713301.1:c.863_865del, XM_011534020.4:c.773_775del, XM_011534020.3:c.773_775del, XM_011534020.2:c.773_775del, XM_011534020.1:c.773_775del, XM_011534021.4:c.683_685del, XM_011534021.3:c.683_685del, XM_011534021.2:c.683_685del, XM_011534021.1:c.683_685del, NM_031899.4:c.848_850del, NM_031899.3:c.848_850del, XR_940494.4:n.1724_1726del, XR_940494.3:n.1745_1747del, XR_940494.2:n.1729_1731del, XR_940494.1:n.1313_1315del, XM_017007050.3:c.758_760del, XM_017007051.3:c.668_670del, NR_103866.2:n.893_895del, NR_103866.1:n.1166_1168del, NR_103867.2:n.885_887del, NR_103867.1:n.1158_1160del, NM_001278789.2:c.563_565del, NM_001278789.1:c.563_565del, NM_001278790.2:c.383_385del, NM_001278790.1:c.383_385del, XM_047448729.1:c.377_379del, NM_001410726.1:c.758_760del, NM_001410731.1:c.668_670del, XM_047448726.1:c.473_475del, XM_047448725.1:c.814_816del, XM_047448727.1:c.793_795del, XM_047448728.1:c.778_780del, XM_047448730.1:c.514_516del, XP_006713364.1:p.Asp288del, XP_011532322.1:p.Asp258del, XP_011532323.1:p.Asp228del, NP_114105.1:p.Asp283del, XP_016862539.1:p.Asp253del, XP_016862540.1:p.Asp223del, NP_001265718.1:p.Asp188del, NP_001265719.1:p.Asp128del, XP_047304685.1:p.Asp126del, XP_047304682.1:p.Asp158del, XP_047304681.1:p.Met272del, XP_047304683.1:p.Met265del, XP_047304684.1:p.Met260del, XP_047304686.1:p.Met172del

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