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Items: 1 to 20 of 373

1.

rs1486784306 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    10:46309182 (GRCh38)
    10:47680418 (GRCh37)
    Canonical SPDI:
    NC_000010.11:46309181:T:C
    Gene:
    ANTXRL (Varview)
    Functional Consequence:
    intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.00003/8 (TOPMED)
    C=0.000036/5 (GnomAD)
    HGVS:
    NC_000010.11:g.46309182T>C, NW_003871068.1:g.580297T>C, NC_000010.10:g.47680418T>C, XM_011539437.3:c.661T>C, XM_011539437.2:c.661T>C, XM_011539437.1:c.661T>C, XM_011539438.3:c.661T>C, XM_011539438.2:c.661T>C, XM_011539438.1:c.661T>C, NM_001278688.3:c.1114T>C, NM_001278688.2:c.1114T>C, NM_001278688.1:c.1114T>C, XM_011539430.3:c.1114T>C, XM_011539430.2:c.1114T>C, XM_011539430.1:c.1114T>C, XM_011539433.3:c.781T>C, XM_011539433.2:c.781T>C, XM_011539433.1:c.781T>C, XM_011539431.3:c.907T>C, XM_011539431.2:c.907T>C, XM_011539431.1:c.907T>C, XM_011539434.3:c.781T>C, XM_011539434.2:c.781T>C, XM_011539434.1:c.781T>C, XM_017015819.2:c.661T>C, XM_017015819.1:c.661T>C, XR_945612.2:n.1380T>C, XR_945612.1:n.1380T>C, XR_945614.2:n.1380T>C, XR_945614.1:n.1380T>C, NM_001354208.2:c.220T>C, NM_001354208.1:c.220T>C, XM_017015818.2:c.838T>C, XM_017015818.1:c.838T>C, XM_011539443.2:c.220T>C, XM_011539443.1:c.220T>C, XM_047424708.1:c.661T>C, XM_047424705.1:c.829T>C, NR_003601.1:n.1290T>C, XM_047424706.1:c.829T>C, XM_047424704.1:c.829T>C, XM_047424707.1:c.781T>C, XP_011537739.1:p.Trp221Arg, XP_011537740.1:p.Trp221Arg, NP_001265617.1:p.Trp372Arg, XP_011537732.1:p.Trp372Arg, XP_011537735.1:p.Trp261Arg, XP_011537733.1:p.Trp303Arg, XP_011537736.1:p.Trp261Arg, XP_016871308.1:p.Trp221Arg, NP_001341137.1:p.Trp74Arg, XP_016871307.1:p.Trp280Arg, XP_011537745.1:p.Trp74Arg, XP_047280664.1:p.Trp221Arg, XP_047280661.1:p.Trp277Arg, XP_047280662.1:p.Trp277Arg, XP_047280660.1:p.Trp277Arg, XP_047280663.1:p.Trp261Arg

    2.

    rs1485843130 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      10:46329853 (GRCh38)
      10:47701089 (GRCh37)
      Canonical SPDI:
      NC_000010.11:46329852:C:G
      Gene:
      ANTXRL (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      HGVS:
      NC_000010.11:g.46329853C>G, NW_003871068.1:g.600968C>G, NC_000010.10:g.47701089C>G, XM_006717684.4:c.1575C>G, XM_006717684.3:c.1575C>G, XM_006717684.2:c.1575C>G, XM_006717684.1:c.1575C>G, XM_011539437.3:c.1212C>G, XM_011539437.2:c.1212C>G, XM_011539437.1:c.1212C>G, XM_011539438.3:c.1212C>G, XM_011539438.2:c.1212C>G, XM_011539438.1:c.1212C>G, NM_001278688.3:c.1665C>G, NM_001278688.2:c.1665C>G, NM_001278688.1:c.1665C>G, XM_011539430.3:c.1584C>G, XM_011539430.2:c.1584C>G, XM_011539430.1:c.1584C>G, XM_011539433.3:c.1332C>G, XM_011539433.2:c.1332C>G, XM_011539433.1:c.1332C>G, XM_011539431.3:c.1458C>G, XM_011539431.2:c.1458C>G, XM_011539431.1:c.1458C>G, XM_011539434.3:c.1332C>G, XM_011539434.2:c.1332C>G, XM_011539434.1:c.1332C>G, XM_017015819.2:c.1212C>G, XM_017015819.1:c.1212C>G, XR_945612.2:n.2043C>G, XR_945614.2:n.1962C>G, NM_001354208.2:c.771C>G, NM_001354208.1:c.771C>G, XM_017015818.2:c.1389C>G, XM_017015818.1:c.1389C>G, XM_011539443.2:c.771C>G, XM_011539443.1:c.771C>G, XM_047424708.1:c.1212C>G, XM_047424705.1:c.1380C>G, NR_003601.1:n.1772C>G, XM_047424706.1:c.1380C>G, XM_047424704.1:c.1380C>G, XM_047424707.1:c.1332C>G, XP_006717747.1:p.Ile525Met, XP_011537739.1:p.Ile404Met, XP_011537740.1:p.Ile404Met, NP_001265617.1:p.Ile555Met, XP_011537732.1:p.Ile528Met, XP_011537735.1:p.Ile444Met, XP_011537733.1:p.Ile486Met, XP_011537736.1:p.Ile444Met, XP_016871308.1:p.Ile404Met, NP_001341137.1:p.Ile257Met, XP_016871307.1:p.Ile463Met, XP_011537745.1:p.Ile257Met, XP_047280664.1:p.Ile404Met, XP_047280661.1:p.Ile460Met, XP_047280662.1:p.Ile460Met, XP_047280660.1:p.Ile460Met, XP_047280663.1:p.Ile444Met

      3.

      rs1485641778 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        10:46302752 (GRCh38)
        10:47673988 (GRCh37)
        Canonical SPDI:
        NC_000010.11:46302751:G:A
        Gene:
        ANTXRL (Varview)
        Functional Consequence:
        5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0.000048/1 (ALFA)
        A=0.000007/1 (GnomAD_exomes)
        HGVS:
        NC_000010.11:g.46302752G>A, NW_003871068.1:g.573867G>A, NC_000010.10:g.47673988G>A, XM_006717684.4:c.827G>A, XM_006717684.3:c.827G>A, XM_006717684.2:c.827G>A, XM_006717684.1:c.827G>A, XM_011539437.3:c.374G>A, XM_011539437.2:c.374G>A, XM_011539437.1:c.374G>A, XM_011539438.3:c.374G>A, XM_011539438.2:c.374G>A, XM_011539438.1:c.374G>A, NM_001278688.3:c.827G>A, NM_001278688.2:c.827G>A, NM_001278688.1:c.827G>A, XM_011539430.3:c.827G>A, XM_011539430.2:c.827G>A, XM_011539430.1:c.827G>A, XM_011539433.3:c.494G>A, XM_011539433.2:c.494G>A, XM_011539433.1:c.494G>A, XM_011539431.3:c.620G>A, XM_011539431.2:c.620G>A, XM_011539431.1:c.620G>A, XM_011539434.3:c.494G>A, XM_011539434.2:c.494G>A, XM_011539434.1:c.494G>A, XM_017015819.2:c.374G>A, XM_017015819.1:c.374G>A, XR_945612.2:n.1093G>A, XR_945612.1:n.1093G>A, XR_945614.2:n.1093G>A, XR_945614.1:n.1093G>A, NM_001354208.2:c.-277G>A, NM_001354208.1:c.-277G>A, XM_017015818.2:c.551G>A, XM_017015818.1:c.551G>A, XM_047424708.1:c.374G>A, XM_047424705.1:c.542G>A, NR_003601.1:n.794G>A, XM_047424706.1:c.542G>A, XM_047424704.1:c.542G>A, XM_011539441.1:c.827G>A, XM_047424707.1:c.494G>A, XR_945615.1:n.1093G>A, XM_011539442.1:c.827G>A, XP_006717747.1:p.Gly276Asp, XP_011537739.1:p.Gly125Asp, XP_011537740.1:p.Gly125Asp, NP_001265617.1:p.Gly276Asp, XP_011537732.1:p.Gly276Asp, XP_011537735.1:p.Gly165Asp, XP_011537733.1:p.Gly207Asp, XP_011537736.1:p.Gly165Asp, XP_016871308.1:p.Gly125Asp, XP_016871307.1:p.Gly184Asp, XP_047280664.1:p.Gly125Asp, XP_047280661.1:p.Gly181Asp, XP_047280662.1:p.Gly181Asp, XP_047280660.1:p.Gly181Asp, XP_011537743.1:p.Gly276Asp, XP_047280663.1:p.Gly165Asp, XP_011537744.1:p.Gly276Asp

        4.

        rs1483525212 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          10:46329618 (GRCh38)
          10:47700854 (GRCh37)
          Canonical SPDI:
          NC_000010.11:46329617:C:T
          Gene:
          ANTXRL (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          T=0.000008/2 (TOPMED)
          HGVS:
          NC_000010.11:g.46329618C>T, NW_003871068.1:g.600733C>T, NC_000010.10:g.47700854C>T, XM_006717684.4:c.1340C>T, XM_006717684.3:c.1340C>T, XM_006717684.2:c.1340C>T, XM_006717684.1:c.1340C>T, XM_011539437.3:c.977C>T, XM_011539437.2:c.977C>T, XM_011539437.1:c.977C>T, XM_011539438.3:c.977C>T, XM_011539438.2:c.977C>T, XM_011539438.1:c.977C>T, NM_001278688.3:c.1430C>T, NM_001278688.2:c.1430C>T, NM_001278688.1:c.1430C>T, XM_011539430.3:c.1349C>T, XM_011539430.2:c.1349C>T, XM_011539430.1:c.1349C>T, XM_011539433.3:c.1097C>T, XM_011539433.2:c.1097C>T, XM_011539433.1:c.1097C>T, XM_011539431.3:c.1223C>T, XM_011539431.2:c.1223C>T, XM_011539431.1:c.1223C>T, XM_011539434.3:c.1097C>T, XM_011539434.2:c.1097C>T, XM_011539434.1:c.1097C>T, XM_017015819.2:c.977C>T, XM_017015819.1:c.977C>T, XR_945612.2:n.1808C>T, XR_945612.1:n.1808C>T, XR_945614.2:n.1727C>T, XR_945614.1:n.1727C>T, NM_001354208.2:c.536C>T, NM_001354208.1:c.536C>T, XM_017015818.2:c.1154C>T, XM_017015818.1:c.1154C>T, XM_011539443.2:c.536C>T, XM_011539443.1:c.536C>T, XM_047424708.1:c.977C>T, XM_047424705.1:c.1145C>T, NR_003601.1:n.1606C>T, XM_047424706.1:c.1145C>T, XM_047424704.1:c.1145C>T, XM_047424707.1:c.1097C>T, XP_006717747.1:p.Ala447Val, XP_011537739.1:p.Ala326Val, XP_011537740.1:p.Ala326Val, NP_001265617.1:p.Ala477Val, XP_011537732.1:p.Ala450Val, XP_011537735.1:p.Ala366Val, XP_011537733.1:p.Ala408Val, XP_011537736.1:p.Ala366Val, XP_016871308.1:p.Ala326Val, NP_001341137.1:p.Ala179Val, XP_016871307.1:p.Ala385Val, XP_011537745.1:p.Ala179Val, XP_047280664.1:p.Ala326Val, XP_047280661.1:p.Ala382Val, XP_047280662.1:p.Ala382Val, XP_047280660.1:p.Ala382Val, XP_047280663.1:p.Ala366Val

          5.

          rs1481732871 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            10:46306827 (GRCh38)
            10:47678063 (GRCh37)
            Canonical SPDI:
            NC_000010.11:46306826:A:G
            Gene:
            ANTXRL (Varview)
            Functional Consequence:
            5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000015/2 (GnomAD_exomes)
            G=0.000021/3 (GnomAD)
            HGVS:
            NC_000010.11:g.46306827A>G, NW_003871068.1:g.577942A>G, NC_000010.10:g.47678063A>G, XM_006717684.4:c.920A>G, XM_006717684.3:c.920A>G, XM_006717684.2:c.920A>G, XM_006717684.1:c.920A>G, XM_011539437.3:c.467A>G, XM_011539437.2:c.467A>G, XM_011539437.1:c.467A>G, XM_011539438.3:c.467A>G, XM_011539438.2:c.467A>G, XM_011539438.1:c.467A>G, NM_001278688.3:c.920A>G, NM_001278688.2:c.920A>G, NM_001278688.1:c.920A>G, XM_011539430.3:c.920A>G, XM_011539430.2:c.920A>G, XM_011539430.1:c.920A>G, XM_011539433.3:c.587A>G, XM_011539433.2:c.587A>G, XM_011539433.1:c.587A>G, XM_011539431.3:c.713A>G, XM_011539431.2:c.713A>G, XM_011539431.1:c.713A>G, XM_011539434.3:c.587A>G, XM_011539434.2:c.587A>G, XM_011539434.1:c.587A>G, XM_017015819.2:c.467A>G, XM_017015819.1:c.467A>G, XR_945612.2:n.1186A>G, XR_945612.1:n.1186A>G, XR_945614.2:n.1186A>G, XR_945614.1:n.1186A>G, NM_001354208.2:c.-184A>G, NM_001354208.1:c.-184A>G, XM_017015818.2:c.644A>G, XM_017015818.1:c.644A>G, XM_047424708.1:c.467A>G, XM_047424705.1:c.635A>G, NR_003601.1:n.887A>G, XM_047424706.1:c.635A>G, XM_047424704.1:c.635A>G, XM_011539441.1:c.920A>G, XM_047424707.1:c.587A>G, XR_945615.1:n.1186A>G, XM_011539442.1:c.920A>G, XP_006717747.1:p.Asn307Ser, XP_011537739.1:p.Asn156Ser, XP_011537740.1:p.Asn156Ser, NP_001265617.1:p.Asn307Ser, XP_011537732.1:p.Asn307Ser, XP_011537735.1:p.Asn196Ser, XP_011537733.1:p.Asn238Ser, XP_011537736.1:p.Asn196Ser, XP_016871308.1:p.Asn156Ser, XP_016871307.1:p.Asn215Ser, XP_047280664.1:p.Asn156Ser, XP_047280661.1:p.Asn212Ser, XP_047280662.1:p.Asn212Ser, XP_047280660.1:p.Asn212Ser, XP_011537743.1:p.Asn307Ser, XP_047280663.1:p.Asn196Ser, XP_011537744.1:p.Asn307Ser

            6.

            rs1479419888 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->T [Show Flanks]
              Chromosome:
              10:46329993 (GRCh38)
              10:47701230 (GRCh37)
              Canonical SPDI:
              NC_000010.11:46329993:T:TT
              Gene:
              ANTXRL (Varview)
              Functional Consequence:
              coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TT=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000007/1 (GnomAD_exomes)
              T=0.000019/5 (TOPMED)
              HGVS:
              NC_000010.11:g.46329994dup, NW_003871068.1:g.601109dup, NC_000010.10:g.47701230dup, XM_006717684.4:c.1716dup, XM_006717684.3:c.1716dup, XM_006717684.2:c.1716dup, XM_006717684.1:c.1716dup, XM_011539437.3:c.1353dup, XM_011539437.2:c.1353dup, XM_011539437.1:c.1353dup, XM_011539438.3:c.1353dup, XM_011539438.2:c.1353dup, XM_011539438.1:c.1353dup, NM_001278688.3:c.1806dup, NM_001278688.2:c.1806dup, NM_001278688.1:c.1806dup, XM_011539430.3:c.1725dup, XM_011539430.2:c.1725dup, XM_011539430.1:c.1725dup, XM_011539433.3:c.1473dup, XM_011539433.2:c.1473dup, XM_011539433.1:c.1473dup, XM_011539431.3:c.1599dup, XM_011539431.2:c.1599dup, XM_011539431.1:c.1599dup, XM_011539434.3:c.1473dup, XM_011539434.2:c.1473dup, XM_011539434.1:c.1473dup, XM_017015819.2:c.1353dup, XM_017015819.1:c.1353dup, XR_945612.2:n.2184dup, XR_945614.2:n.2103dup, NM_001354208.2:c.912dup, NM_001354208.1:c.912dup, XM_017015818.2:c.1530dup, XM_017015818.1:c.1530dup, XM_011539443.2:c.912dup, XM_011539443.1:c.912dup, XM_047424708.1:c.1353dup, XM_047424705.1:c.1521dup, NR_003601.1:n.1913dup, XM_047424706.1:c.1521dup, XM_047424704.1:c.1521dup, XM_047424707.1:c.1473dup, XP_006717747.1:p.Pro573fs, XP_011537739.1:p.Pro452fs, XP_011537740.1:p.Pro452fs, NP_001265617.1:p.Pro603fs, XP_011537732.1:p.Pro576fs, XP_011537735.1:p.Pro492fs, XP_011537733.1:p.Pro534fs, XP_011537736.1:p.Pro492fs, XP_016871308.1:p.Pro452fs, NP_001341137.1:p.Pro305fs, XP_016871307.1:p.Pro511fs, XP_011537745.1:p.Pro305fs, XP_047280664.1:p.Pro452fs, XP_047280661.1:p.Pro508fs, XP_047280662.1:p.Pro508fs, XP_047280660.1:p.Pro508fs, XP_047280663.1:p.Pro492fs

              7.

              rs1475284183 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                10:46329931 (GRCh38)
                10:47701167 (GRCh37)
                Canonical SPDI:
                NC_000010.11:46329930:G:A
                Gene:
                ANTXRL (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                NC_000010.11:g.46329931G>A, NW_003871068.1:g.601046G>A, NC_000010.10:g.47701167G>A, XM_006717684.4:c.1653G>A, XM_006717684.3:c.1653G>A, XM_006717684.2:c.1653G>A, XM_006717684.1:c.1653G>A, XM_011539437.3:c.1290G>A, XM_011539437.2:c.1290G>A, XM_011539437.1:c.1290G>A, XM_011539438.3:c.1290G>A, XM_011539438.2:c.1290G>A, XM_011539438.1:c.1290G>A, NM_001278688.3:c.1743G>A, NM_001278688.2:c.1743G>A, NM_001278688.1:c.1743G>A, XM_011539430.3:c.1662G>A, XM_011539430.2:c.1662G>A, XM_011539430.1:c.1662G>A, XM_011539433.3:c.1410G>A, XM_011539433.2:c.1410G>A, XM_011539433.1:c.1410G>A, XM_011539431.3:c.1536G>A, XM_011539431.2:c.1536G>A, XM_011539431.1:c.1536G>A, XM_011539434.3:c.1410G>A, XM_011539434.2:c.1410G>A, XM_011539434.1:c.1410G>A, XM_017015819.2:c.1290G>A, XM_017015819.1:c.1290G>A, XR_945612.2:n.2121G>A, XR_945614.2:n.2040G>A, NM_001354208.2:c.849G>A, NM_001354208.1:c.849G>A, XM_017015818.2:c.1467G>A, XM_017015818.1:c.1467G>A, XM_011539443.2:c.849G>A, XM_011539443.1:c.849G>A, XM_047424708.1:c.1290G>A, XM_047424705.1:c.1458G>A, NR_003601.1:n.1850G>A, XM_047424706.1:c.1458G>A, XM_047424704.1:c.1458G>A, XM_047424707.1:c.1410G>A

                8.

                rs1475033022 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  10:46309167 (GRCh38)
                  10:47680403 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:46309166:C:T
                  Gene:
                  ANTXRL (Varview)
                  Functional Consequence:
                  intron_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000010.11:g.46309167C>T, NW_003871068.1:g.580282C>T, NC_000010.10:g.47680403C>T, XM_011539437.3:c.646C>T, XM_011539437.2:c.646C>T, XM_011539437.1:c.646C>T, XM_011539438.3:c.646C>T, XM_011539438.2:c.646C>T, XM_011539438.1:c.646C>T, NM_001278688.3:c.1099C>T, NM_001278688.2:c.1099C>T, NM_001278688.1:c.1099C>T, XM_011539430.3:c.1099C>T, XM_011539430.2:c.1099C>T, XM_011539430.1:c.1099C>T, XM_011539433.3:c.766C>T, XM_011539433.2:c.766C>T, XM_011539433.1:c.766C>T, XM_011539431.3:c.892C>T, XM_011539431.2:c.892C>T, XM_011539431.1:c.892C>T, XM_011539434.3:c.766C>T, XM_011539434.2:c.766C>T, XM_011539434.1:c.766C>T, XM_017015819.2:c.646C>T, XM_017015819.1:c.646C>T, XR_945612.2:n.1365C>T, XR_945612.1:n.1365C>T, XR_945614.2:n.1365C>T, XR_945614.1:n.1365C>T, NM_001354208.2:c.205C>T, NM_001354208.1:c.205C>T, XM_017015818.2:c.823C>T, XM_017015818.1:c.823C>T, XM_011539443.2:c.205C>T, XM_011539443.1:c.205C>T, XM_047424708.1:c.646C>T, XM_047424705.1:c.814C>T, NR_003601.1:n.1275C>T, XM_047424706.1:c.814C>T, XM_047424704.1:c.814C>T, XM_047424707.1:c.766C>T

                  9.

                  rs1474185680 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    10:46329682 (GRCh38)
                    10:47700918 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:46329681:G:T
                    Gene:
                    ANTXRL (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000071/1 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000010.11:g.46329682G>T, NW_003871068.1:g.600797G>T, NC_000010.10:g.47700918G>T, XM_006717684.4:c.1404G>T, XM_006717684.3:c.1404G>T, XM_006717684.2:c.1404G>T, XM_006717684.1:c.1404G>T, XM_011539437.3:c.1041G>T, XM_011539437.2:c.1041G>T, XM_011539437.1:c.1041G>T, XM_011539438.3:c.1041G>T, XM_011539438.2:c.1041G>T, XM_011539438.1:c.1041G>T, NM_001278688.3:c.1494G>T, NM_001278688.2:c.1494G>T, NM_001278688.1:c.1494G>T, XM_011539430.3:c.1413G>T, XM_011539430.2:c.1413G>T, XM_011539430.1:c.1413G>T, XM_011539433.3:c.1161G>T, XM_011539433.2:c.1161G>T, XM_011539433.1:c.1161G>T, XM_011539431.3:c.1287G>T, XM_011539431.2:c.1287G>T, XM_011539431.1:c.1287G>T, XM_011539434.3:c.1161G>T, XM_011539434.2:c.1161G>T, XM_011539434.1:c.1161G>T, XM_017015819.2:c.1041G>T, XM_017015819.1:c.1041G>T, XR_945612.2:n.1872G>T, XR_945612.1:n.1872G>T, XR_945614.2:n.1791G>T, XR_945614.1:n.1791G>T, NM_001354208.2:c.600G>T, NM_001354208.1:c.600G>T, XM_017015818.2:c.1218G>T, XM_017015818.1:c.1218G>T, XM_011539443.2:c.600G>T, XM_011539443.1:c.600G>T, XM_047424708.1:c.1041G>T, XM_047424705.1:c.1209G>T, NR_003601.1:n.1670G>T, XM_047424706.1:c.1209G>T, XM_047424704.1:c.1209G>T, XM_047424707.1:c.1161G>T, XP_006717747.1:p.Gln468His, XP_011537739.1:p.Gln347His, XP_011537740.1:p.Gln347His, NP_001265617.1:p.Gln498His, XP_011537732.1:p.Gln471His, XP_011537735.1:p.Gln387His, XP_011537733.1:p.Gln429His, XP_011537736.1:p.Gln387His, XP_016871308.1:p.Gln347His, NP_001341137.1:p.Gln200His, XP_016871307.1:p.Gln406His, XP_011537745.1:p.Gln200His, XP_047280664.1:p.Gln347His, XP_047280661.1:p.Gln403His, XP_047280662.1:p.Gln403His, XP_047280660.1:p.Gln403His, XP_047280663.1:p.Gln387His

                    10.

                    rs1474082952 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C,G [Show Flanks]
                      Chromosome:
                      10:46311643 (GRCh38)
                      10:47682879 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:46311642:T:C,NC_000010.11:46311642:T:G
                      Gene:
                      ANTXRL (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      G=0./0 (Korea1K)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000010.11:g.46311643T>C, NC_000010.11:g.46311643T>G, NW_003871068.1:g.582758T>C, NW_003871068.1:g.582758T>G, NC_000010.10:g.47682879T>C, NC_000010.10:g.47682879T>G, XM_006717684.4:c.1217T>C, XM_006717684.4:c.1217T>G, XM_006717684.3:c.1217T>C, XM_006717684.3:c.1217T>G, XM_006717684.2:c.1217T>C, XM_006717684.2:c.1217T>G, XM_006717684.1:c.1217T>C, XM_006717684.1:c.1217T>G, XM_011539437.3:c.854T>C, XM_011539437.3:c.854T>G, XM_011539437.2:c.854T>C, XM_011539437.2:c.854T>G, XM_011539437.1:c.854T>C, XM_011539437.1:c.854T>G, XM_011539438.3:c.854T>C, XM_011539438.3:c.854T>G, XM_011539438.2:c.854T>C, XM_011539438.2:c.854T>G, XM_011539438.1:c.854T>C, XM_011539438.1:c.854T>G, NM_001278688.3:c.1307T>C, NM_001278688.3:c.1307T>G, NM_001278688.2:c.1307T>C, NM_001278688.2:c.1307T>G, NM_001278688.1:c.1307T>C, NM_001278688.1:c.1307T>G, XM_011539430.3:c.1307T>C, XM_011539430.3:c.1307T>G, XM_011539430.2:c.1307T>C, XM_011539430.2:c.1307T>G, XM_011539430.1:c.1307T>C, XM_011539430.1:c.1307T>G, XM_011539433.3:c.974T>C, XM_011539433.3:c.974T>G, XM_011539433.2:c.974T>C, XM_011539433.2:c.974T>G, XM_011539433.1:c.974T>C, XM_011539433.1:c.974T>G, XM_011539431.3:c.1100T>C, XM_011539431.3:c.1100T>G, XM_011539431.2:c.1100T>C, XM_011539431.2:c.1100T>G, XM_011539431.1:c.1100T>C, XM_011539431.1:c.1100T>G, XM_011539434.3:c.974T>C, XM_011539434.3:c.974T>G, XM_011539434.2:c.974T>C, XM_011539434.2:c.974T>G, XM_011539434.1:c.974T>C, XM_011539434.1:c.974T>G, XM_017015819.2:c.854T>C, XM_017015819.2:c.854T>G, XM_017015819.1:c.854T>C, XM_017015819.1:c.854T>G, XR_945612.2:n.1573T>C, XR_945612.2:n.1573T>G, XR_945612.1:n.1573T>C, XR_945612.1:n.1573T>G, XR_945614.2:n.1573T>C, XR_945614.2:n.1573T>G, XR_945614.1:n.1573T>C, XR_945614.1:n.1573T>G, NM_001354208.2:c.413T>C, NM_001354208.2:c.413T>G, NM_001354208.1:c.413T>C, NM_001354208.1:c.413T>G, XM_017015818.2:c.1031T>C, XM_017015818.2:c.1031T>G, XM_017015818.1:c.1031T>C, XM_017015818.1:c.1031T>G, XM_011539443.2:c.413T>C, XM_011539443.2:c.413T>G, XM_011539443.1:c.413T>C, XM_011539443.1:c.413T>G, XM_047424708.1:c.854T>C, XM_047424708.1:c.854T>G, XM_047424705.1:c.1022T>C, XM_047424705.1:c.1022T>G, NR_003601.1:n.1483T>C, NR_003601.1:n.1483T>G, XM_047424706.1:c.1022T>C, XM_047424706.1:c.1022T>G, XM_047424704.1:c.1022T>C, XM_047424704.1:c.1022T>G, XM_047424707.1:c.974T>C, XM_047424707.1:c.974T>G, XP_006717747.1:p.Val406Ala, XP_006717747.1:p.Val406Gly, XP_011537739.1:p.Val285Ala, XP_011537739.1:p.Val285Gly, XP_011537740.1:p.Val285Ala, XP_011537740.1:p.Val285Gly, NP_001265617.1:p.Val436Ala, NP_001265617.1:p.Val436Gly, XP_011537732.1:p.Val436Ala, XP_011537732.1:p.Val436Gly, XP_011537735.1:p.Val325Ala, XP_011537735.1:p.Val325Gly, XP_011537733.1:p.Val367Ala, XP_011537733.1:p.Val367Gly, XP_011537736.1:p.Val325Ala, XP_011537736.1:p.Val325Gly, XP_016871308.1:p.Val285Ala, XP_016871308.1:p.Val285Gly, NP_001341137.1:p.Val138Ala, NP_001341137.1:p.Val138Gly, XP_016871307.1:p.Val344Ala, XP_016871307.1:p.Val344Gly, XP_011537745.1:p.Val138Ala, XP_011537745.1:p.Val138Gly, XP_047280664.1:p.Val285Ala, XP_047280664.1:p.Val285Gly, XP_047280661.1:p.Val341Ala, XP_047280661.1:p.Val341Gly, XP_047280662.1:p.Val341Ala, XP_047280662.1:p.Val341Gly, XP_047280660.1:p.Val341Ala, XP_047280660.1:p.Val341Gly, XP_047280663.1:p.Val325Ala, XP_047280663.1:p.Val325Gly

                      11.

                      rs1470542840 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        10:46329692 (GRCh38)
                        10:47700928 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:46329691:T:A
                        Gene:
                        ANTXRL (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        T=0.5/2 (SGDP_PRJ)
                        HGVS:
                        NC_000010.11:g.46329692T>A, NW_003871068.1:g.600807T>A, NC_000010.10:g.47700928T>A, XM_006717684.4:c.1414T>A, XM_006717684.3:c.1414T>A, XM_006717684.2:c.1414T>A, XM_006717684.1:c.1414T>A, XM_011539437.3:c.1051T>A, XM_011539437.2:c.1051T>A, XM_011539437.1:c.1051T>A, XM_011539438.3:c.1051T>A, XM_011539438.2:c.1051T>A, XM_011539438.1:c.1051T>A, NM_001278688.3:c.1504T>A, NM_001278688.2:c.1504T>A, NM_001278688.1:c.1504T>A, XM_011539430.3:c.1423T>A, XM_011539430.2:c.1423T>A, XM_011539430.1:c.1423T>A, XM_011539433.3:c.1171T>A, XM_011539433.2:c.1171T>A, XM_011539433.1:c.1171T>A, XM_011539431.3:c.1297T>A, XM_011539431.2:c.1297T>A, XM_011539431.1:c.1297T>A, XM_011539434.3:c.1171T>A, XM_011539434.2:c.1171T>A, XM_011539434.1:c.1171T>A, XM_017015819.2:c.1051T>A, XM_017015819.1:c.1051T>A, XR_945612.2:n.1882T>A, XR_945614.2:n.1801T>A, NM_001354208.2:c.610T>A, NM_001354208.1:c.610T>A, XM_017015818.2:c.1228T>A, XM_017015818.1:c.1228T>A, XM_011539443.2:c.610T>A, XM_011539443.1:c.610T>A, XM_047424708.1:c.1051T>A, XM_047424705.1:c.1219T>A, NR_003601.1:n.1680T>A, XM_047424706.1:c.1219T>A, XM_047424704.1:c.1219T>A, XM_047424707.1:c.1171T>A, XP_006717747.1:p.Ser472Thr, XP_011537739.1:p.Ser351Thr, XP_011537740.1:p.Ser351Thr, NP_001265617.1:p.Ser502Thr, XP_011537732.1:p.Ser475Thr, XP_011537735.1:p.Ser391Thr, XP_011537733.1:p.Ser433Thr, XP_011537736.1:p.Ser391Thr, XP_016871308.1:p.Ser351Thr, NP_001341137.1:p.Ser204Thr, XP_016871307.1:p.Ser410Thr, XP_011537745.1:p.Ser204Thr, XP_047280664.1:p.Ser351Thr, XP_047280661.1:p.Ser407Thr, XP_047280662.1:p.Ser407Thr, XP_047280660.1:p.Ser407Thr, XP_047280663.1:p.Ser391Thr

                        12.

                        rs1469380695 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          10:46311634 (GRCh38)
                          10:47682870 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:46311633:G:A
                          Gene:
                          ANTXRL (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000015/4 (TOPMED)
                          A=0.000036/5 (GnomAD)
                          HGVS:
                          NC_000010.11:g.46311634G>A, NW_003871068.1:g.582749G>A, NC_000010.10:g.47682870G>A, XM_006717684.4:c.1208G>A, XM_006717684.3:c.1208G>A, XM_006717684.2:c.1208G>A, XM_006717684.1:c.1208G>A, XM_011539437.3:c.845G>A, XM_011539437.2:c.845G>A, XM_011539437.1:c.845G>A, XM_011539438.3:c.845G>A, XM_011539438.2:c.845G>A, XM_011539438.1:c.845G>A, NM_001278688.3:c.1298G>A, NM_001278688.2:c.1298G>A, NM_001278688.1:c.1298G>A, XM_011539430.3:c.1298G>A, XM_011539430.2:c.1298G>A, XM_011539430.1:c.1298G>A, XM_011539433.3:c.965G>A, XM_011539433.2:c.965G>A, XM_011539433.1:c.965G>A, XM_011539431.3:c.1091G>A, XM_011539431.2:c.1091G>A, XM_011539431.1:c.1091G>A, XM_011539434.3:c.965G>A, XM_011539434.2:c.965G>A, XM_011539434.1:c.965G>A, XM_017015819.2:c.845G>A, XM_017015819.1:c.845G>A, XR_945612.2:n.1564G>A, XR_945612.1:n.1564G>A, XR_945614.2:n.1564G>A, XR_945614.1:n.1564G>A, NM_001354208.2:c.404G>A, NM_001354208.1:c.404G>A, XM_017015818.2:c.1022G>A, XM_017015818.1:c.1022G>A, XM_011539443.2:c.404G>A, XM_011539443.1:c.404G>A, XM_047424708.1:c.845G>A, XM_047424705.1:c.1013G>A, NR_003601.1:n.1474G>A, XM_047424706.1:c.1013G>A, XM_047424704.1:c.1013G>A, XM_047424707.1:c.965G>A, XP_006717747.1:p.Cys403Tyr, XP_011537739.1:p.Cys282Tyr, XP_011537740.1:p.Cys282Tyr, NP_001265617.1:p.Cys433Tyr, XP_011537732.1:p.Cys433Tyr, XP_011537735.1:p.Cys322Tyr, XP_011537733.1:p.Cys364Tyr, XP_011537736.1:p.Cys322Tyr, XP_016871308.1:p.Cys282Tyr, NP_001341137.1:p.Cys135Tyr, XP_016871307.1:p.Cys341Tyr, XP_011537745.1:p.Cys135Tyr, XP_047280664.1:p.Cys282Tyr, XP_047280661.1:p.Cys338Tyr, XP_047280662.1:p.Cys338Tyr, XP_047280660.1:p.Cys338Tyr, XP_047280663.1:p.Cys322Tyr

                          13.

                          rs1464416655 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            10:46297303 (GRCh38)
                            10:47668539 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:46297302:A:G
                            Gene:
                            ANTXRL (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            G=0.000014/2 (GnomAD)
                            HGVS:
                            NC_000010.11:g.46297303A>G, NW_003871068.1:g.568418A>G, NC_000010.10:g.47668539A>G, XM_006717684.4:c.560A>G, XM_006717684.3:c.560A>G, XM_006717684.2:c.560A>G, XM_006717684.1:c.560A>G, XM_011539437.3:c.107A>G, XM_011539437.2:c.107A>G, XM_011539437.1:c.107A>G, XM_011539438.3:c.107A>G, XM_011539438.2:c.107A>G, XM_011539438.1:c.107A>G, NM_001278688.3:c.560A>G, NM_001278688.2:c.560A>G, NM_001278688.1:c.560A>G, XM_011539430.3:c.560A>G, XM_011539430.2:c.560A>G, XM_011539430.1:c.560A>G, XM_011539433.3:c.227A>G, XM_011539433.2:c.227A>G, XM_011539433.1:c.227A>G, XM_011539431.3:c.353A>G, XM_011539431.2:c.353A>G, XM_011539431.1:c.353A>G, XM_011539434.3:c.227A>G, XM_011539434.2:c.227A>G, XM_011539434.1:c.227A>G, XM_017015819.2:c.107A>G, XM_017015819.1:c.107A>G, XR_945612.2:n.826A>G, XR_945612.1:n.826A>G, XR_945614.2:n.826A>G, XR_945614.1:n.826A>G, NM_001354208.2:c.-544A>G, NM_001354208.1:c.-544A>G, XM_017015818.2:c.284A>G, XM_017015818.1:c.284A>G, XM_047424708.1:c.107A>G, XM_047424705.1:c.275A>G, NR_003601.1:n.527A>G, XM_047424706.1:c.275A>G, XM_047424704.1:c.275A>G, XM_011539441.1:c.560A>G, XM_047424707.1:c.227A>G, XR_945615.1:n.826A>G, XM_011539442.1:c.560A>G, XP_006717747.1:p.His187Arg, XP_011537739.1:p.His36Arg, XP_011537740.1:p.His36Arg, NP_001265617.1:p.His187Arg, XP_011537732.1:p.His187Arg, XP_011537735.1:p.His76Arg, XP_011537733.1:p.His118Arg, XP_011537736.1:p.His76Arg, XP_016871308.1:p.His36Arg, XP_016871307.1:p.His95Arg, XP_047280664.1:p.His36Arg, XP_047280661.1:p.His92Arg, XP_047280662.1:p.His92Arg, XP_047280660.1:p.His92Arg, XP_011537743.1:p.His187Arg, XP_047280663.1:p.His76Arg, XP_011537744.1:p.His187Arg

                            14.

                            rs1462431917 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G [Show Flanks]
                              Chromosome:
                              10:46329973 (GRCh38)
                              10:47701209 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:46329972:C:A,NC_000010.11:46329972:C:G
                              Gene:
                              ANTXRL (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000010.11:g.46329973C>A, NC_000010.11:g.46329973C>G, NW_003871068.1:g.601088C>A, NW_003871068.1:g.601088C>G, NC_000010.10:g.47701209C>A, NC_000010.10:g.47701209C>G, XM_006717684.4:c.1695C>A, XM_006717684.4:c.1695C>G, XM_006717684.3:c.1695C>A, XM_006717684.3:c.1695C>G, XM_006717684.2:c.1695C>A, XM_006717684.2:c.1695C>G, XM_006717684.1:c.1695C>A, XM_006717684.1:c.1695C>G, XM_011539437.3:c.1332C>A, XM_011539437.3:c.1332C>G, XM_011539437.2:c.1332C>A, XM_011539437.2:c.1332C>G, XM_011539437.1:c.1332C>A, XM_011539437.1:c.1332C>G, XM_011539438.3:c.1332C>A, XM_011539438.3:c.1332C>G, XM_011539438.2:c.1332C>A, XM_011539438.2:c.1332C>G, XM_011539438.1:c.1332C>A, XM_011539438.1:c.1332C>G, NM_001278688.3:c.1785C>A, NM_001278688.3:c.1785C>G, NM_001278688.2:c.1785C>A, NM_001278688.2:c.1785C>G, NM_001278688.1:c.1785C>A, NM_001278688.1:c.1785C>G, XM_011539430.3:c.1704C>A, XM_011539430.3:c.1704C>G, XM_011539430.2:c.1704C>A, XM_011539430.2:c.1704C>G, XM_011539430.1:c.1704C>A, XM_011539430.1:c.1704C>G, XM_011539433.3:c.1452C>A, XM_011539433.3:c.1452C>G, XM_011539433.2:c.1452C>A, XM_011539433.2:c.1452C>G, XM_011539433.1:c.1452C>A, XM_011539433.1:c.1452C>G, XM_011539431.3:c.1578C>A, XM_011539431.3:c.1578C>G, XM_011539431.2:c.1578C>A, XM_011539431.2:c.1578C>G, XM_011539431.1:c.1578C>A, XM_011539431.1:c.1578C>G, XM_011539434.3:c.1452C>A, XM_011539434.3:c.1452C>G, XM_011539434.2:c.1452C>A, XM_011539434.2:c.1452C>G, XM_011539434.1:c.1452C>A, XM_011539434.1:c.1452C>G, XM_017015819.2:c.1332C>A, XM_017015819.2:c.1332C>G, XM_017015819.1:c.1332C>A, XM_017015819.1:c.1332C>G, XR_945612.2:n.2163C>A, XR_945612.2:n.2163C>G, XR_945614.2:n.2082C>A, XR_945614.2:n.2082C>G, NM_001354208.2:c.891C>A, NM_001354208.2:c.891C>G, NM_001354208.1:c.891C>A, NM_001354208.1:c.891C>G, XM_017015818.2:c.1509C>A, XM_017015818.2:c.1509C>G, XM_017015818.1:c.1509C>A, XM_017015818.1:c.1509C>G, XM_011539443.2:c.891C>A, XM_011539443.2:c.891C>G, XM_011539443.1:c.891C>A, XM_011539443.1:c.891C>G, XM_047424708.1:c.1332C>A, XM_047424708.1:c.1332C>G, XM_047424705.1:c.1500C>A, XM_047424705.1:c.1500C>G, NR_003601.1:n.1892C>A, NR_003601.1:n.1892C>G, XM_047424706.1:c.1500C>A, XM_047424706.1:c.1500C>G, XM_047424704.1:c.1500C>A, XM_047424704.1:c.1500C>G, XM_047424707.1:c.1452C>A, XM_047424707.1:c.1452C>G

                              15.

                              rs1458649661 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                10:46296091 (GRCh38)
                                10:47667327 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:46296090:A:C
                                Gene:
                                ANTXRL (Varview)
                                Functional Consequence:
                                synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000546/1 (Korea1K)
                                HGVS:
                                NC_000010.11:g.46296091A>C, NW_003871068.1:g.567206A>C, NC_000010.10:g.47667327A>C, XM_006717684.4:c.465A>C, XM_006717684.3:c.465A>C, XM_006717684.2:c.465A>C, XM_006717684.1:c.465A>C, XM_011539437.3:c.12A>C, XM_011539437.2:c.12A>C, XM_011539437.1:c.12A>C, XM_011539438.3:c.12A>C, XM_011539438.2:c.12A>C, XM_011539438.1:c.12A>C, NM_001278688.3:c.465A>C, NM_001278688.2:c.465A>C, NM_001278688.1:c.465A>C, XM_011539430.3:c.465A>C, XM_011539430.2:c.465A>C, XM_011539430.1:c.465A>C, XM_011539433.3:c.132A>C, XM_011539433.2:c.132A>C, XM_011539433.1:c.132A>C, XM_011539431.3:c.258A>C, XM_011539431.2:c.258A>C, XM_011539431.1:c.258A>C, XM_011539434.3:c.132A>C, XM_011539434.2:c.132A>C, XM_011539434.1:c.132A>C, XM_017015819.2:c.12A>C, XM_017015819.1:c.12A>C, XR_945612.2:n.731A>C, XR_945612.1:n.731A>C, XR_945614.2:n.731A>C, XR_945614.1:n.731A>C, NM_001354208.2:c.-639A>C, NM_001354208.1:c.-639A>C, XM_017015818.2:c.189A>C, XM_017015818.1:c.189A>C, XM_047424708.1:c.12A>C, XM_047424705.1:c.180A>C, NR_003601.1:n.432A>C, XM_047424706.1:c.180A>C, XM_047424704.1:c.180A>C, XM_011539441.1:c.465A>C, XM_047424707.1:c.132A>C, XR_945615.1:n.731A>C, XM_011539442.1:c.465A>C

                                16.

                                rs1458411805 has merged into rs782502445 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  C>-,CC,CCCC [Show Flanks]
                                  Chromosome:
                                  10:46330060 (GRCh38)
                                  10:47701302 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:46330059:CCCCCCC:CCCCCC,NC_000010.11:46330059:CCCCCCC:CCCCCCCC,NC_000010.11:46330059:CCCCCCC:CCCCCCCCCC
                                  Gene:
                                  ANTXRL (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,inframe_insertion,frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  CCCCCCCC=0./0 (ALFA)
                                  -=0.000008/2 (TOPMED)
                                  -=0.00009/1 (ExAC)
                                  -=0.000312/2 (1000Genomes)
                                  HGVS:
                                  NC_000010.11:g.46330066del, NC_000010.11:g.46330066dup, NC_000010.11:g.46330064_46330066dup, NW_003871068.1:g.601181del, NW_003871068.1:g.601181dup, NW_003871068.1:g.601179_601181dup, NC_000010.10:g.47701302G>C, NC_000010.10:g.47701302del, NC_000010.10:g.47701302delinsCC, NC_000010.10:g.47701302delinsCCCC, XM_006717684.4:c.1788del, XM_006717684.4:c.1788dup, XM_006717684.4:c.1786_1788dup, XM_006717684.3:c.1788del, XM_006717684.3:c.1788dup, XM_006717684.3:c.1786_1788dup, XM_006717684.2:c.1788del, XM_006717684.2:c.1788dup, XM_006717684.2:c.1786_1788dup, XM_006717684.1:c.1788del, XM_006717684.1:c.1788dup, XM_006717684.1:c.1786_1788dup, XM_011539437.3:c.1425del, XM_011539437.3:c.1425dup, XM_011539437.3:c.1423_1425dup, XM_011539437.2:c.1425del, XM_011539437.2:c.1425dup, XM_011539437.2:c.1423_1425dup, XM_011539437.1:c.1425del, XM_011539437.1:c.1425dup, XM_011539437.1:c.1423_1425dup, XM_011539438.3:c.1425del, XM_011539438.3:c.1425dup, XM_011539438.3:c.1423_1425dup, XM_011539438.2:c.1425del, XM_011539438.2:c.1425dup, XM_011539438.2:c.1423_1425dup, XM_011539438.1:c.1425del, XM_011539438.1:c.1425dup, XM_011539438.1:c.1423_1425dup, NM_001278688.3:c.1878del, NM_001278688.3:c.1878dup, NM_001278688.3:c.1876_1878dup, NM_001278688.2:c.1878del, NM_001278688.2:c.1878dup, NM_001278688.2:c.1876_1878dup, NM_001278688.1:c.1878G>C, NM_001278688.1:c.1878del, NM_001278688.1:c.1878delinsCC, NM_001278688.1:c.1878delinsCCCC, XM_011539430.3:c.1797del, XM_011539430.3:c.1797dup, XM_011539430.3:c.1795_1797dup, XM_011539430.2:c.1797del, XM_011539430.2:c.1797dup, XM_011539430.2:c.1795_1797dup, XM_011539430.1:c.1797del, XM_011539430.1:c.1797dup, XM_011539430.1:c.1795_1797dup, XM_011539433.3:c.1545del, XM_011539433.3:c.1545dup, XM_011539433.3:c.1543_1545dup, XM_011539433.2:c.1545del, XM_011539433.2:c.1545dup, XM_011539433.2:c.1543_1545dup, XM_011539433.1:c.1545del, XM_011539433.1:c.1545dup, XM_011539433.1:c.1543_1545dup, XM_011539431.3:c.1671del, XM_011539431.3:c.1671dup, XM_011539431.3:c.1669_1671dup, XM_011539431.2:c.1671del, XM_011539431.2:c.1671dup, XM_011539431.2:c.1669_1671dup, XM_011539431.1:c.1671del, XM_011539431.1:c.1671dup, XM_011539431.1:c.1669_1671dup, XM_011539434.3:c.1545del, XM_011539434.3:c.1545dup, XM_011539434.3:c.1543_1545dup, XM_011539434.2:c.1545del, XM_011539434.2:c.1545dup, XM_011539434.2:c.1543_1545dup, XM_011539434.1:c.1545del, XM_011539434.1:c.1545dup, XM_011539434.1:c.1543_1545dup, XM_017015819.2:c.1425del, XM_017015819.2:c.1425dup, XM_017015819.2:c.1423_1425dup, XM_017015819.1:c.1425del, XM_017015819.1:c.1425dup, XM_017015819.1:c.1423_1425dup, XR_945612.2:n.2256del, XR_945612.2:n.2256dup, XR_945612.2:n.2254_2256dup, XR_945614.2:n.2175del, XR_945614.2:n.2175dup, XR_945614.2:n.2173_2175dup, NM_001354208.2:c.984del, NM_001354208.2:c.984dup, NM_001354208.2:c.982_984dup, NM_001354208.1:c.984del, NM_001354208.1:c.984dup, NM_001354208.1:c.982_984dup, XM_017015818.2:c.1602del, XM_017015818.2:c.1602dup, XM_017015818.2:c.1600_1602dup, XM_017015818.1:c.1602del, XM_017015818.1:c.1602dup, XM_017015818.1:c.1600_1602dup, XM_011539443.2:c.984del, XM_011539443.2:c.984dup, XM_011539443.2:c.982_984dup, XM_011539443.1:c.984del, XM_011539443.1:c.984dup, XM_011539443.1:c.982_984dup, XM_047424708.1:c.1425del, XM_047424708.1:c.1425dup, XM_047424708.1:c.1423_1425dup, XM_047424705.1:c.1593del, XM_047424705.1:c.1593dup, XM_047424705.1:c.1591_1593dup, NR_003601.1:n.1985G>C, NR_003601.1:n.1985del, NR_003601.1:n.1985delinsCC, NR_003601.1:n.1985delinsCCCC, XM_047424706.1:c.1593del, XM_047424706.1:c.1593dup, XM_047424706.1:c.1591_1593dup, XM_047424704.1:c.1593del, XM_047424704.1:c.1593dup, XM_047424704.1:c.1591_1593dup, XM_047424707.1:c.1545del, XM_047424707.1:c.1545dup, XM_047424707.1:c.1543_1545dup, XP_006717747.1:p.Ser597fs, XP_006717747.1:p.Ser597fs, XP_006717747.1:p.Pro596dup, XP_011537739.1:p.Ser476fs, XP_011537739.1:p.Ser476fs, XP_011537739.1:p.Pro475dup, XP_011537740.1:p.Ser476fs, XP_011537740.1:p.Ser476fs, XP_011537740.1:p.Pro475dup, NP_001265617.1:p.Ser627fs, NP_001265617.1:p.Ser627fs, NP_001265617.1:p.Pro626dup, XP_011537732.1:p.Ser600fs, XP_011537732.1:p.Ser600fs, XP_011537732.1:p.Pro599dup, XP_011537735.1:p.Ser516fs, XP_011537735.1:p.Ser516fs, XP_011537735.1:p.Pro515dup, XP_011537733.1:p.Ser558fs, XP_011537733.1:p.Ser558fs, XP_011537733.1:p.Pro557dup, XP_011537736.1:p.Ser516fs, XP_011537736.1:p.Ser516fs, XP_011537736.1:p.Pro515dup, XP_016871308.1:p.Ser476fs, XP_016871308.1:p.Ser476fs, XP_016871308.1:p.Pro475dup, NP_001341137.1:p.Ser329fs, NP_001341137.1:p.Ser329fs, NP_001341137.1:p.Pro328dup, XP_016871307.1:p.Ser535fs, XP_016871307.1:p.Ser535fs, XP_016871307.1:p.Pro534dup, XP_011537745.1:p.Ser329fs, XP_011537745.1:p.Ser329fs, XP_011537745.1:p.Pro328dup, XP_047280664.1:p.Ser476fs, XP_047280664.1:p.Ser476fs, XP_047280664.1:p.Pro475dup, XP_047280661.1:p.Ser532fs, XP_047280661.1:p.Ser532fs, XP_047280661.1:p.Pro531dup, XP_047280662.1:p.Ser532fs, XP_047280662.1:p.Ser532fs, XP_047280662.1:p.Pro531dup, XP_047280660.1:p.Ser532fs, XP_047280660.1:p.Ser532fs, XP_047280660.1:p.Pro531dup, XP_047280663.1:p.Ser516fs, XP_047280663.1:p.Ser516fs, XP_047280663.1:p.Pro515dup

                                  17.

                                  rs1458112674 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    10:46306817 (GRCh38)
                                    10:47678053 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:46306816:A:G
                                    Gene:
                                    ANTXRL (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000014/2 (GnomAD)
                                    G=0.000046/6 (GnomAD_exomes)
                                    HGVS:
                                    NC_000010.11:g.46306817A>G, NW_003871068.1:g.577932A>G, NC_000010.10:g.47678053A>G, XM_006717684.4:c.910A>G, XM_006717684.3:c.910A>G, XM_006717684.2:c.910A>G, XM_006717684.1:c.910A>G, XM_011539437.3:c.457A>G, XM_011539437.2:c.457A>G, XM_011539437.1:c.457A>G, XM_011539438.3:c.457A>G, XM_011539438.2:c.457A>G, XM_011539438.1:c.457A>G, NM_001278688.3:c.910A>G, NM_001278688.2:c.910A>G, NM_001278688.1:c.910A>G, XM_011539430.3:c.910A>G, XM_011539430.2:c.910A>G, XM_011539430.1:c.910A>G, XM_011539433.3:c.577A>G, XM_011539433.2:c.577A>G, XM_011539433.1:c.577A>G, XM_011539431.3:c.703A>G, XM_011539431.2:c.703A>G, XM_011539431.1:c.703A>G, XM_011539434.3:c.577A>G, XM_011539434.2:c.577A>G, XM_011539434.1:c.577A>G, XM_017015819.2:c.457A>G, XM_017015819.1:c.457A>G, XR_945612.2:n.1176A>G, XR_945612.1:n.1176A>G, XR_945614.2:n.1176A>G, XR_945614.1:n.1176A>G, NM_001354208.2:c.-194A>G, NM_001354208.1:c.-194A>G, XM_017015818.2:c.634A>G, XM_017015818.1:c.634A>G, XM_047424708.1:c.457A>G, XM_047424705.1:c.625A>G, NR_003601.1:n.877A>G, XM_047424706.1:c.625A>G, XM_047424704.1:c.625A>G, XM_011539441.1:c.910A>G, XM_047424707.1:c.577A>G, XR_945615.1:n.1176A>G, XM_011539442.1:c.910A>G, XP_006717747.1:p.Ser304Gly, XP_011537739.1:p.Ser153Gly, XP_011537740.1:p.Ser153Gly, NP_001265617.1:p.Ser304Gly, XP_011537732.1:p.Ser304Gly, XP_011537735.1:p.Ser193Gly, XP_011537733.1:p.Ser235Gly, XP_011537736.1:p.Ser193Gly, XP_016871308.1:p.Ser153Gly, XP_016871307.1:p.Ser212Gly, XP_047280664.1:p.Ser153Gly, XP_047280661.1:p.Ser209Gly, XP_047280662.1:p.Ser209Gly, XP_047280660.1:p.Ser209Gly, XP_011537743.1:p.Ser304Gly, XP_047280663.1:p.Ser193Gly, XP_011537744.1:p.Ser304Gly

                                    18.

                                    rs1452513769 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      10:46297877 (GRCh38)
                                      10:47669113 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:46297876:A:G
                                      Gene:
                                      ANTXRL (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000008/2 (TOPMED)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000010.11:g.46297877A>G, NW_003871068.1:g.568992A>G, NC_000010.10:g.47669113A>G, XM_006717684.4:c.701A>G, XM_006717684.3:c.701A>G, XM_006717684.2:c.701A>G, XM_006717684.1:c.701A>G, XM_011539437.3:c.248A>G, XM_011539437.2:c.248A>G, XM_011539437.1:c.248A>G, XM_011539438.3:c.248A>G, XM_011539438.2:c.248A>G, XM_011539438.1:c.248A>G, NM_001278688.3:c.701A>G, NM_001278688.2:c.701A>G, NM_001278688.1:c.701A>G, XM_011539430.3:c.701A>G, XM_011539430.2:c.701A>G, XM_011539430.1:c.701A>G, XM_011539433.3:c.368A>G, XM_011539433.2:c.368A>G, XM_011539433.1:c.368A>G, XM_011539431.3:c.494A>G, XM_011539431.2:c.494A>G, XM_011539431.1:c.494A>G, XM_011539434.3:c.368A>G, XM_011539434.2:c.368A>G, XM_011539434.1:c.368A>G, XM_017015819.2:c.248A>G, XM_017015819.1:c.248A>G, XR_945612.2:n.967A>G, XR_945612.1:n.967A>G, XR_945614.2:n.967A>G, XR_945614.1:n.967A>G, NM_001354208.2:c.-403A>G, NM_001354208.1:c.-403A>G, XM_017015818.2:c.425A>G, XM_017015818.1:c.425A>G, XM_047424708.1:c.248A>G, XM_047424705.1:c.416A>G, NR_003601.1:n.668A>G, XM_047424706.1:c.416A>G, XM_047424704.1:c.416A>G, XM_011539441.1:c.701A>G, XM_047424707.1:c.368A>G, XR_945615.1:n.967A>G, XM_011539442.1:c.701A>G, XP_006717747.1:p.Asn234Ser, XP_011537739.1:p.Asn83Ser, XP_011537740.1:p.Asn83Ser, NP_001265617.1:p.Asn234Ser, XP_011537732.1:p.Asn234Ser, XP_011537735.1:p.Asn123Ser, XP_011537733.1:p.Asn165Ser, XP_011537736.1:p.Asn123Ser, XP_016871308.1:p.Asn83Ser, XP_016871307.1:p.Asn142Ser, XP_047280664.1:p.Asn83Ser, XP_047280661.1:p.Asn139Ser, XP_047280662.1:p.Asn139Ser, XP_047280660.1:p.Asn139Ser, XP_011537743.1:p.Asn234Ser, XP_047280663.1:p.Asn123Ser, XP_011537744.1:p.Asn234Ser

                                      19.

                                      rs1450375467 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        10:46329904 (GRCh38)
                                        10:47701140 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:46329903:C:G,NC_000010.11:46329903:C:T
                                        Gene:
                                        ANTXRL (Varview)
                                        Functional Consequence:
                                        synonymous_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000010.11:g.46329904C>G, NC_000010.11:g.46329904C>T, NW_003871068.1:g.601019C>G, NW_003871068.1:g.601019C>T, NC_000010.10:g.47701140C>G, NC_000010.10:g.47701140C>T, XM_006717684.4:c.1626C>G, XM_006717684.4:c.1626C>T, XM_006717684.3:c.1626C>G, XM_006717684.3:c.1626C>T, XM_006717684.2:c.1626C>G, XM_006717684.2:c.1626C>T, XM_006717684.1:c.1626C>G, XM_006717684.1:c.1626C>T, XM_011539437.3:c.1263C>G, XM_011539437.3:c.1263C>T, XM_011539437.2:c.1263C>G, XM_011539437.2:c.1263C>T, XM_011539437.1:c.1263C>G, XM_011539437.1:c.1263C>T, XM_011539438.3:c.1263C>G, XM_011539438.3:c.1263C>T, XM_011539438.2:c.1263C>G, XM_011539438.2:c.1263C>T, XM_011539438.1:c.1263C>G, XM_011539438.1:c.1263C>T, NM_001278688.3:c.1716C>G, NM_001278688.3:c.1716C>T, NM_001278688.2:c.1716C>G, NM_001278688.2:c.1716C>T, NM_001278688.1:c.1716C>G, NM_001278688.1:c.1716C>T, XM_011539430.3:c.1635C>G, XM_011539430.3:c.1635C>T, XM_011539430.2:c.1635C>G, XM_011539430.2:c.1635C>T, XM_011539430.1:c.1635C>G, XM_011539430.1:c.1635C>T, XM_011539433.3:c.1383C>G, XM_011539433.3:c.1383C>T, XM_011539433.2:c.1383C>G, XM_011539433.2:c.1383C>T, XM_011539433.1:c.1383C>G, XM_011539433.1:c.1383C>T, XM_011539431.3:c.1509C>G, XM_011539431.3:c.1509C>T, XM_011539431.2:c.1509C>G, XM_011539431.2:c.1509C>T, XM_011539431.1:c.1509C>G, XM_011539431.1:c.1509C>T, XM_011539434.3:c.1383C>G, XM_011539434.3:c.1383C>T, XM_011539434.2:c.1383C>G, XM_011539434.2:c.1383C>T, XM_011539434.1:c.1383C>G, XM_011539434.1:c.1383C>T, XM_017015819.2:c.1263C>G, XM_017015819.2:c.1263C>T, XM_017015819.1:c.1263C>G, XM_017015819.1:c.1263C>T, XR_945612.2:n.2094C>G, XR_945612.2:n.2094C>T, XR_945614.2:n.2013C>G, XR_945614.2:n.2013C>T, NM_001354208.2:c.822C>G, NM_001354208.2:c.822C>T, NM_001354208.1:c.822C>G, NM_001354208.1:c.822C>T, XM_017015818.2:c.1440C>G, XM_017015818.2:c.1440C>T, XM_017015818.1:c.1440C>G, XM_017015818.1:c.1440C>T, XM_011539443.2:c.822C>G, XM_011539443.2:c.822C>T, XM_011539443.1:c.822C>G, XM_011539443.1:c.822C>T, XM_047424708.1:c.1263C>G, XM_047424708.1:c.1263C>T, XM_047424705.1:c.1431C>G, XM_047424705.1:c.1431C>T, NR_003601.1:n.1823C>G, NR_003601.1:n.1823C>T, XM_047424706.1:c.1431C>G, XM_047424706.1:c.1431C>T, XM_047424704.1:c.1431C>G, XM_047424704.1:c.1431C>T, XM_047424707.1:c.1383C>G, XM_047424707.1:c.1383C>T, XP_006717747.1:p.Asn542Lys, XP_011537739.1:p.Asn421Lys, XP_011537740.1:p.Asn421Lys, NP_001265617.1:p.Asn572Lys, XP_011537732.1:p.Asn545Lys, XP_011537735.1:p.Asn461Lys, XP_011537733.1:p.Asn503Lys, XP_011537736.1:p.Asn461Lys, XP_016871308.1:p.Asn421Lys, NP_001341137.1:p.Asn274Lys, XP_016871307.1:p.Asn480Lys, XP_011537745.1:p.Asn274Lys, XP_047280664.1:p.Asn421Lys, XP_047280661.1:p.Asn477Lys, XP_047280662.1:p.Asn477Lys, XP_047280660.1:p.Asn477Lys, XP_047280663.1:p.Asn461Lys

                                        20.

                                        rs1450196989 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          10:46311631 (GRCh38)
                                          10:47682867 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:46311630:G:T
                                          Gene:
                                          ANTXRL (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000010.11:g.46311631G>T, NW_003871068.1:g.582746G>T, NC_000010.10:g.47682867G>T, XM_006717684.4:c.1205G>T, XM_006717684.3:c.1205G>T, XM_006717684.2:c.1205G>T, XM_006717684.1:c.1205G>T, XM_011539437.3:c.842G>T, XM_011539437.2:c.842G>T, XM_011539437.1:c.842G>T, XM_011539438.3:c.842G>T, XM_011539438.2:c.842G>T, XM_011539438.1:c.842G>T, NM_001278688.3:c.1295G>T, NM_001278688.2:c.1295G>T, NM_001278688.1:c.1295G>T, XM_011539430.3:c.1295G>T, XM_011539430.2:c.1295G>T, XM_011539430.1:c.1295G>T, XM_011539433.3:c.962G>T, XM_011539433.2:c.962G>T, XM_011539433.1:c.962G>T, XM_011539431.3:c.1088G>T, XM_011539431.2:c.1088G>T, XM_011539431.1:c.1088G>T, XM_011539434.3:c.962G>T, XM_011539434.2:c.962G>T, XM_011539434.1:c.962G>T, XM_017015819.2:c.842G>T, XM_017015819.1:c.842G>T, XR_945612.2:n.1561G>T, XR_945612.1:n.1561G>T, XR_945614.2:n.1561G>T, XR_945614.1:n.1561G>T, NM_001354208.2:c.401G>T, NM_001354208.1:c.401G>T, XM_017015818.2:c.1019G>T, XM_017015818.1:c.1019G>T, XM_011539443.2:c.401G>T, XM_011539443.1:c.401G>T, XM_047424708.1:c.842G>T, XM_047424705.1:c.1010G>T, NR_003601.1:n.1471G>T, XM_047424706.1:c.1010G>T, XM_047424704.1:c.1010G>T, XM_047424707.1:c.962G>T, XP_006717747.1:p.Gly402Val, XP_011537739.1:p.Gly281Val, XP_011537740.1:p.Gly281Val, NP_001265617.1:p.Gly432Val, XP_011537732.1:p.Gly432Val, XP_011537735.1:p.Gly321Val, XP_011537733.1:p.Gly363Val, XP_011537736.1:p.Gly321Val, XP_016871308.1:p.Gly281Val, NP_001341137.1:p.Gly134Val, XP_016871307.1:p.Gly340Val, XP_011537745.1:p.Gly134Val, XP_047280664.1:p.Gly281Val, XP_047280661.1:p.Gly337Val, XP_047280662.1:p.Gly337Val, XP_047280660.1:p.Gly337Val, XP_047280663.1:p.Gly321Val

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