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Items: 1 to 20 of 439

1.

rs1490421398 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    17:68370486 (GRCh38)
    17:66366627 (GRCh37)
    Canonical SPDI:
    NC_000017.11:68370485:G:C
    Gene:
    ARSG (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000008/2 (TOPMED)
    HGVS:
    NC_000017.11:g.68370486G>C, NC_000017.10:g.66366627G>C, NG_032814.2:g.116398G>C, NM_014960.5:c.944G>C, NM_014960.4:c.944G>C, NM_001352903.2:c.941G>C, NM_001352903.1:c.941G>C, NM_001352900.2:c.944G>C, NM_001352900.1:c.944G>C, NM_001352901.2:c.944G>C, NM_001352901.1:c.944G>C, NM_001352907.2:c.941G>C, NM_001352907.1:c.941G>C, NM_001352910.2:c.944G>C, NM_001352910.1:c.944G>C, NM_001352902.2:c.944G>C, NM_001352902.1:c.944G>C, NM_001352904.2:c.941G>C, NM_001352904.1:c.941G>C, NM_001352905.2:c.941G>C, NM_001352905.1:c.941G>C, NM_001352899.2:c.944G>C, NM_001352899.1:c.944G>C, NM_001352906.2:c.941G>C, NM_001352906.1:c.941G>C, NM_001352909.2:c.896G>C, NM_001352909.1:c.896G>C, NM_001267727.2:c.944G>C, NM_001267727.1:c.944G>C, XM_017024360.3:c.944G>C, XM_017024360.2:c.944G>C, XM_017024360.1:c.944G>C, XM_011524536.3:c.944G>C, XM_011524536.2:c.944G>C, XM_011524536.1:c.944G>C, XM_011524546.3:c.197G>C, XM_011524546.2:c.197G>C, XM_011524546.1:c.197G>C, XM_011524537.2:c.944G>C, XM_011524537.1:c.944G>C, XM_017024368.2:c.944G>C, XM_017024368.1:c.944G>C, XM_017024365.2:c.944G>C, XM_017024365.1:c.944G>C, XM_047435635.1:c.944G>C, XM_047435632.1:c.944G>C, XM_047435638.1:c.944G>C, XM_047435636.1:c.941G>C, XM_047435649.1:c.944G>C, XM_047435648.1:c.944G>C, XM_047435650.1:c.452G>C, XM_047435644.1:c.944G>C, XM_047435647.1:c.944G>C, XM_047435643.1:c.944G>C, XM_047435639.1:c.944G>C, XM_047435634.1:c.944G>C, XM_047435646.1:c.944G>C, XM_047435633.1:c.944G>C, XM_047435640.1:c.944G>C, XM_047435645.1:c.944G>C, XM_047435641.1:c.944G>C, XR_007065287.1:n.1569G>C, XM_047435637.1:c.944G>C, XM_047435642.1:c.944G>C, XM_047435653.1:c.944G>C, XM_047435655.1:c.944G>C, XM_047435654.1:c.944G>C, XM_047435651.1:c.944G>C, XM_047435652.1:c.944G>C, NP_055775.2:p.Ser315Thr, NP_001339832.1:p.Ser314Thr, NP_001339829.1:p.Ser315Thr, NP_001339830.1:p.Ser315Thr, NP_001339836.1:p.Ser314Thr, NP_001339839.1:p.Ser315Thr, NP_001339831.1:p.Ser315Thr, NP_001339833.1:p.Ser314Thr, NP_001339834.1:p.Ser314Thr, NP_001339828.1:p.Ser315Thr, NP_001339835.1:p.Ser314Thr, NP_001339838.1:p.Ser299Thr, NP_001254656.1:p.Ser315Thr, XP_016879849.1:p.Ser315Thr, XP_011522838.1:p.Ser315Thr, XP_011522848.1:p.Ser66Thr, XP_011522839.1:p.Ser315Thr, XP_016879857.1:p.Ser315Thr, XP_016879854.1:p.Ser315Thr, XP_047291591.1:p.Ser315Thr, XP_047291588.1:p.Ser315Thr, XP_047291594.1:p.Ser315Thr, XP_047291592.1:p.Ser314Thr, XP_047291605.1:p.Ser315Thr, XP_047291604.1:p.Ser315Thr, XP_047291606.1:p.Ser151Thr, XP_047291600.1:p.Ser315Thr, XP_047291603.1:p.Ser315Thr, XP_047291599.1:p.Ser315Thr, XP_047291595.1:p.Ser315Thr, XP_047291590.1:p.Ser315Thr, XP_047291602.1:p.Ser315Thr, XP_047291589.1:p.Ser315Thr, XP_047291596.1:p.Ser315Thr, XP_047291601.1:p.Ser315Thr, XP_047291597.1:p.Ser315Thr, XP_047291593.1:p.Ser315Thr, XP_047291598.1:p.Ser315Thr, XP_047291609.1:p.Ser315Thr, XP_047291611.1:p.Ser315Thr, XP_047291610.1:p.Ser315Thr, XP_047291607.1:p.Ser315Thr, XP_047291608.1:p.Ser315Thr

    2.

    rs1485912402 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      17:68356683 (GRCh38)
      17:66352824 (GRCh37)
      Canonical SPDI:
      NC_000017.11:68356682:T:G
      Gene:
      ARSG (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.000028/1 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000014/2 (GnomAD)
      G=0.000015/4 (TOPMED)
      HGVS:
      NC_000017.11:g.68356683T>G, NC_000017.10:g.66352824T>G, NG_032814.2:g.102595T>G, NM_014960.5:c.583T>G, NM_014960.4:c.583T>G, NM_001352903.2:c.583T>G, NM_001352903.1:c.583T>G, NM_001352900.2:c.583T>G, NM_001352900.1:c.583T>G, NM_001352901.2:c.583T>G, NM_001352901.1:c.583T>G, NM_001352907.2:c.583T>G, NM_001352907.1:c.583T>G, NM_001352910.2:c.583T>G, NM_001352910.1:c.583T>G, NM_001352902.2:c.583T>G, NM_001352902.1:c.583T>G, NM_001352904.2:c.583T>G, NM_001352904.1:c.583T>G, NM_001352905.2:c.583T>G, NM_001352905.1:c.583T>G, NM_001352899.2:c.583T>G, NM_001352899.1:c.583T>G, NM_001352906.2:c.583T>G, NM_001352906.1:c.583T>G, NM_001352909.2:c.535T>G, NM_001352909.1:c.535T>G, NM_001267727.2:c.583T>G, NM_001267727.1:c.583T>G, XM_017024360.3:c.583T>G, XM_017024360.2:c.583T>G, XM_017024360.1:c.583T>G, XM_011524536.3:c.583T>G, XM_011524536.2:c.583T>G, XM_011524536.1:c.583T>G, XM_011524537.2:c.583T>G, XM_011524537.1:c.583T>G, XM_017024368.2:c.583T>G, XM_017024368.1:c.583T>G, XM_017024365.2:c.583T>G, XM_017024365.1:c.583T>G, XM_047435635.1:c.583T>G, XM_047435632.1:c.583T>G, XM_047435638.1:c.583T>G, XM_047435636.1:c.583T>G, XM_047435649.1:c.583T>G, XM_047435648.1:c.583T>G, XM_047435650.1:c.91T>G, XM_047435644.1:c.583T>G, XM_047435647.1:c.583T>G, XM_047435643.1:c.583T>G, XM_047435639.1:c.583T>G, XM_047435634.1:c.583T>G, XM_047435646.1:c.583T>G, XM_047435633.1:c.583T>G, XM_047435640.1:c.583T>G, XM_047435645.1:c.583T>G, XM_047435641.1:c.583T>G, XR_007065287.1:n.1208T>G, XM_047435637.1:c.583T>G, XM_047435642.1:c.583T>G, XM_047435653.1:c.583T>G, XM_047435655.1:c.583T>G, XM_047435654.1:c.583T>G, XM_047435651.1:c.583T>G, XM_047435652.1:c.583T>G, NP_055775.2:p.Cys195Gly, NP_001339832.1:p.Cys195Gly, NP_001339829.1:p.Cys195Gly, NP_001339830.1:p.Cys195Gly, NP_001339836.1:p.Cys195Gly, NP_001339839.1:p.Cys195Gly, NP_001339831.1:p.Cys195Gly, NP_001339833.1:p.Cys195Gly, NP_001339834.1:p.Cys195Gly, NP_001339828.1:p.Cys195Gly, NP_001339835.1:p.Cys195Gly, NP_001339838.1:p.Cys179Gly, NP_001254656.1:p.Cys195Gly, XP_016879849.1:p.Cys195Gly, XP_011522838.1:p.Cys195Gly, XP_011522839.1:p.Cys195Gly, XP_016879857.1:p.Cys195Gly, XP_016879854.1:p.Cys195Gly, XP_047291591.1:p.Cys195Gly, XP_047291588.1:p.Cys195Gly, XP_047291594.1:p.Cys195Gly, XP_047291592.1:p.Cys195Gly, XP_047291605.1:p.Cys195Gly, XP_047291604.1:p.Cys195Gly, XP_047291606.1:p.Cys31Gly, XP_047291600.1:p.Cys195Gly, XP_047291603.1:p.Cys195Gly, XP_047291599.1:p.Cys195Gly, XP_047291595.1:p.Cys195Gly, XP_047291590.1:p.Cys195Gly, XP_047291602.1:p.Cys195Gly, XP_047291589.1:p.Cys195Gly, XP_047291596.1:p.Cys195Gly, XP_047291601.1:p.Cys195Gly, XP_047291597.1:p.Cys195Gly, XP_047291593.1:p.Cys195Gly, XP_047291598.1:p.Cys195Gly, XP_047291609.1:p.Cys195Gly, XP_047291611.1:p.Cys195Gly, XP_047291610.1:p.Cys195Gly, XP_047291607.1:p.Cys195Gly, XP_047291608.1:p.Cys195Gly

      3.

      rs1484737066 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        17:68307598 (GRCh38)
        17:66303739 (GRCh37)
        Canonical SPDI:
        NC_000017.11:68307597:G:A
        Gene:
        ARSG (Varview)
        Functional Consequence:
        synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        A=0.001097/18 (TOMMO)
        HGVS:
        NC_000017.11:g.68307598G>A, NC_000017.10:g.66303739G>A, NG_032814.2:g.53510G>A, NM_014960.5:c.105G>A, NM_014960.4:c.105G>A, NM_001352903.2:c.105G>A, NM_001352903.1:c.105G>A, NM_001352900.2:c.105G>A, NM_001352900.1:c.105G>A, NM_001352901.2:c.105G>A, NM_001352901.1:c.105G>A, NM_001352907.2:c.105G>A, NM_001352907.1:c.105G>A, NM_001352910.2:c.105G>A, NM_001352910.1:c.105G>A, NM_001352902.2:c.105G>A, NM_001352902.1:c.105G>A, NM_001352904.2:c.105G>A, NM_001352904.1:c.105G>A, NM_001352905.2:c.105G>A, NM_001352905.1:c.105G>A, NM_001352899.2:c.105G>A, NM_001352899.1:c.105G>A, NM_001352906.2:c.105G>A, NM_001352906.1:c.105G>A, NM_001352909.2:c.105G>A, NM_001352909.1:c.105G>A, NM_001267727.2:c.105G>A, NM_001267727.1:c.105G>A, NW_003871088.1:g.367609G>A, XM_017024360.3:c.105G>A, XM_017024360.2:c.105G>A, XM_017024360.1:c.105G>A, XM_011524536.3:c.105G>A, XM_011524536.2:c.105G>A, XM_011524536.1:c.105G>A, XM_011524537.2:c.105G>A, XM_011524537.1:c.105G>A, XM_017024368.2:c.105G>A, XM_017024368.1:c.105G>A, XM_017024365.2:c.105G>A, XM_017024365.1:c.105G>A, XM_047435635.1:c.105G>A, XM_047435632.1:c.105G>A, XM_047435638.1:c.105G>A, XM_047435636.1:c.105G>A, XM_047435649.1:c.105G>A, XM_047435648.1:c.105G>A, XM_047435644.1:c.105G>A, XM_047435647.1:c.105G>A, XM_047435643.1:c.105G>A, XM_047435639.1:c.105G>A, XM_047435634.1:c.105G>A, XM_047435646.1:c.105G>A, XM_047435633.1:c.105G>A, XM_047435640.1:c.105G>A, XM_047435645.1:c.105G>A, XM_047435641.1:c.105G>A, XR_007065287.1:n.730G>A, XM_047435637.1:c.105G>A, XM_047435642.1:c.105G>A, XM_047435653.1:c.105G>A, XM_047435655.1:c.105G>A, XM_047435654.1:c.105G>A, XM_047435651.1:c.105G>A, XM_047435652.1:c.105G>A

        4.

        rs1482855375 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          17:68356759 (GRCh38)
          17:66352900 (GRCh37)
          Canonical SPDI:
          NC_000017.11:68356758:C:T
          Gene:
          ARSG (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000017.11:g.68356759C>T, NC_000017.10:g.66352900C>T, NG_032814.2:g.102671C>T, NM_014960.5:c.659C>T, NM_014960.4:c.659C>T, NM_001352903.2:c.659C>T, NM_001352903.1:c.659C>T, NM_001352900.2:c.659C>T, NM_001352900.1:c.659C>T, NM_001352901.2:c.659C>T, NM_001352901.1:c.659C>T, NM_001352907.2:c.659C>T, NM_001352907.1:c.659C>T, NM_001352910.2:c.659C>T, NM_001352910.1:c.659C>T, NM_001352902.2:c.659C>T, NM_001352902.1:c.659C>T, NM_001352904.2:c.659C>T, NM_001352904.1:c.659C>T, NM_001352905.2:c.659C>T, NM_001352905.1:c.659C>T, NM_001352899.2:c.659C>T, NM_001352899.1:c.659C>T, NM_001352906.2:c.659C>T, NM_001352906.1:c.659C>T, NM_001352909.2:c.611C>T, NM_001352909.1:c.611C>T, NM_001267727.2:c.659C>T, NM_001267727.1:c.659C>T, XM_017024360.3:c.659C>T, XM_017024360.2:c.659C>T, XM_017024360.1:c.659C>T, XM_011524536.3:c.659C>T, XM_011524536.2:c.659C>T, XM_011524536.1:c.659C>T, XM_011524537.2:c.659C>T, XM_011524537.1:c.659C>T, XM_017024368.2:c.659C>T, XM_017024368.1:c.659C>T, XM_017024365.2:c.659C>T, XM_017024365.1:c.659C>T, XM_047435635.1:c.659C>T, XM_047435632.1:c.659C>T, XM_047435638.1:c.659C>T, XM_047435636.1:c.659C>T, XM_047435649.1:c.659C>T, XM_047435648.1:c.659C>T, XM_047435650.1:c.167C>T, XM_047435644.1:c.659C>T, XM_047435647.1:c.659C>T, XM_047435643.1:c.659C>T, XM_047435639.1:c.659C>T, XM_047435634.1:c.659C>T, XM_047435646.1:c.659C>T, XM_047435633.1:c.659C>T, XM_047435640.1:c.659C>T, XM_047435645.1:c.659C>T, XM_047435641.1:c.659C>T, XR_007065287.1:n.1284C>T, XM_047435637.1:c.659C>T, XM_047435642.1:c.659C>T, XM_047435653.1:c.659C>T, XM_047435655.1:c.659C>T, XM_047435654.1:c.659C>T, XM_047435651.1:c.659C>T, XM_047435652.1:c.659C>T, NP_055775.2:p.Ala220Val, NP_001339832.1:p.Ala220Val, NP_001339829.1:p.Ala220Val, NP_001339830.1:p.Ala220Val, NP_001339836.1:p.Ala220Val, NP_001339839.1:p.Ala220Val, NP_001339831.1:p.Ala220Val, NP_001339833.1:p.Ala220Val, NP_001339834.1:p.Ala220Val, NP_001339828.1:p.Ala220Val, NP_001339835.1:p.Ala220Val, NP_001339838.1:p.Ala204Val, NP_001254656.1:p.Ala220Val, XP_016879849.1:p.Ala220Val, XP_011522838.1:p.Ala220Val, XP_011522839.1:p.Ala220Val, XP_016879857.1:p.Ala220Val, XP_016879854.1:p.Ala220Val, XP_047291591.1:p.Ala220Val, XP_047291588.1:p.Ala220Val, XP_047291594.1:p.Ala220Val, XP_047291592.1:p.Ala220Val, XP_047291605.1:p.Ala220Val, XP_047291604.1:p.Ala220Val, XP_047291606.1:p.Ala56Val, XP_047291600.1:p.Ala220Val, XP_047291603.1:p.Ala220Val, XP_047291599.1:p.Ala220Val, XP_047291595.1:p.Ala220Val, XP_047291590.1:p.Ala220Val, XP_047291602.1:p.Ala220Val, XP_047291589.1:p.Ala220Val, XP_047291596.1:p.Ala220Val, XP_047291601.1:p.Ala220Val, XP_047291597.1:p.Ala220Val, XP_047291593.1:p.Ala220Val, XP_047291598.1:p.Ala220Val, XP_047291609.1:p.Ala220Val, XP_047291611.1:p.Ala220Val, XP_047291610.1:p.Ala220Val, XP_047291607.1:p.Ala220Val, XP_047291608.1:p.Ala220Val

          5.

          rs1482538292 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            17:68347132 (GRCh38)
            17:66343273 (GRCh37)
            Canonical SPDI:
            NC_000017.11:68347131:G:A,NC_000017.11:68347131:G:T
            Gene:
            ARSG (Varview)
            Functional Consequence:
            coding_sequence_variant,stop_gained,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            T=0.000008/2 (GnomAD_exomes)
            HGVS:
            NC_000017.11:g.68347132G>A, NC_000017.11:g.68347132G>T, NC_000017.10:g.66343273G>A, NC_000017.10:g.66343273G>T, NG_032814.2:g.93044G>A, NG_032814.2:g.93044G>T, NM_014960.5:c.414G>A, NM_014960.5:c.414G>T, NM_014960.4:c.414G>A, NM_014960.4:c.414G>T, NM_001352903.2:c.414G>A, NM_001352903.2:c.414G>T, NM_001352903.1:c.414G>A, NM_001352903.1:c.414G>T, NM_001352900.2:c.414G>A, NM_001352900.2:c.414G>T, NM_001352900.1:c.414G>A, NM_001352900.1:c.414G>T, NM_001352901.2:c.414G>A, NM_001352901.2:c.414G>T, NM_001352901.1:c.414G>A, NM_001352901.1:c.414G>T, NM_001352907.2:c.414G>A, NM_001352907.2:c.414G>T, NM_001352907.1:c.414G>A, NM_001352907.1:c.414G>T, NM_001352910.2:c.414G>A, NM_001352910.2:c.414G>T, NM_001352910.1:c.414G>A, NM_001352910.1:c.414G>T, NM_001352902.2:c.414G>A, NM_001352902.2:c.414G>T, NM_001352902.1:c.414G>A, NM_001352902.1:c.414G>T, NM_001352904.2:c.414G>A, NM_001352904.2:c.414G>T, NM_001352904.1:c.414G>A, NM_001352904.1:c.414G>T, NM_001352905.2:c.414G>A, NM_001352905.2:c.414G>T, NM_001352905.1:c.414G>A, NM_001352905.1:c.414G>T, NM_001352899.2:c.414G>A, NM_001352899.2:c.414G>T, NM_001352899.1:c.414G>A, NM_001352899.1:c.414G>T, NM_001352906.2:c.414G>A, NM_001352906.2:c.414G>T, NM_001352906.1:c.414G>A, NM_001352906.1:c.414G>T, NM_001267727.2:c.414G>A, NM_001267727.2:c.414G>T, NM_001267727.1:c.414G>A, NM_001267727.1:c.414G>T, XM_017024360.3:c.414G>A, XM_017024360.3:c.414G>T, XM_017024360.2:c.414G>A, XM_017024360.2:c.414G>T, XM_017024360.1:c.414G>A, XM_017024360.1:c.414G>T, XM_011524536.3:c.414G>A, XM_011524536.3:c.414G>T, XM_011524536.2:c.414G>A, XM_011524536.2:c.414G>T, XM_011524536.1:c.414G>A, XM_011524536.1:c.414G>T, XM_011524537.2:c.414G>A, XM_011524537.2:c.414G>T, XM_011524537.1:c.414G>A, XM_011524537.1:c.414G>T, XM_017024368.2:c.414G>A, XM_017024368.2:c.414G>T, XM_017024368.1:c.414G>A, XM_017024368.1:c.414G>T, XM_017024365.2:c.414G>A, XM_017024365.2:c.414G>T, XM_017024365.1:c.414G>A, XM_017024365.1:c.414G>T, XM_047435635.1:c.414G>A, XM_047435635.1:c.414G>T, XM_047435632.1:c.414G>A, XM_047435632.1:c.414G>T, XM_047435638.1:c.414G>A, XM_047435638.1:c.414G>T, XM_047435636.1:c.414G>A, XM_047435636.1:c.414G>T, XM_047435649.1:c.414G>A, XM_047435649.1:c.414G>T, XM_047435648.1:c.414G>A, XM_047435648.1:c.414G>T, XM_047435650.1:c.-79G>A, XM_047435650.1:c.-79G>T, XM_047435644.1:c.414G>A, XM_047435644.1:c.414G>T, XM_047435647.1:c.414G>A, XM_047435647.1:c.414G>T, XM_047435643.1:c.414G>A, XM_047435643.1:c.414G>T, XM_047435639.1:c.414G>A, XM_047435639.1:c.414G>T, XM_047435634.1:c.414G>A, XM_047435634.1:c.414G>T, XM_047435646.1:c.414G>A, XM_047435646.1:c.414G>T, XM_047435633.1:c.414G>A, XM_047435633.1:c.414G>T, XM_047435640.1:c.414G>A, XM_047435640.1:c.414G>T, XM_047435645.1:c.414G>A, XM_047435645.1:c.414G>T, XM_047435641.1:c.414G>A, XM_047435641.1:c.414G>T, XR_007065287.1:n.1039G>A, XR_007065287.1:n.1039G>T, XM_047435637.1:c.414G>A, XM_047435637.1:c.414G>T, XM_047435642.1:c.414G>A, XM_047435642.1:c.414G>T, XM_047435653.1:c.414G>A, XM_047435653.1:c.414G>T, XM_047435655.1:c.414G>A, XM_047435655.1:c.414G>T, XM_047435654.1:c.414G>A, XM_047435654.1:c.414G>T, XM_047435651.1:c.414G>A, XM_047435651.1:c.414G>T, XM_047435652.1:c.414G>A, XM_047435652.1:c.414G>T, NP_055775.2:p.Trp138Ter, NP_055775.2:p.Trp138Cys, NP_001339832.1:p.Trp138Ter, NP_001339832.1:p.Trp138Cys, NP_001339829.1:p.Trp138Ter, NP_001339829.1:p.Trp138Cys, NP_001339830.1:p.Trp138Ter, NP_001339830.1:p.Trp138Cys, NP_001339836.1:p.Trp138Ter, NP_001339836.1:p.Trp138Cys, NP_001339839.1:p.Trp138Ter, NP_001339839.1:p.Trp138Cys, NP_001339831.1:p.Trp138Ter, NP_001339831.1:p.Trp138Cys, NP_001339833.1:p.Trp138Ter, NP_001339833.1:p.Trp138Cys, NP_001339834.1:p.Trp138Ter, NP_001339834.1:p.Trp138Cys, NP_001339828.1:p.Trp138Ter, NP_001339828.1:p.Trp138Cys, NP_001339835.1:p.Trp138Ter, NP_001339835.1:p.Trp138Cys, NP_001254656.1:p.Trp138Ter, NP_001254656.1:p.Trp138Cys, XP_016879849.1:p.Trp138Ter, XP_016879849.1:p.Trp138Cys, XP_011522838.1:p.Trp138Ter, XP_011522838.1:p.Trp138Cys, XP_011522839.1:p.Trp138Ter, XP_011522839.1:p.Trp138Cys, XP_016879857.1:p.Trp138Ter, XP_016879857.1:p.Trp138Cys, XP_016879854.1:p.Trp138Ter, XP_016879854.1:p.Trp138Cys, XP_047291591.1:p.Trp138Ter, XP_047291591.1:p.Trp138Cys, XP_047291588.1:p.Trp138Ter, XP_047291588.1:p.Trp138Cys, XP_047291594.1:p.Trp138Ter, XP_047291594.1:p.Trp138Cys, XP_047291592.1:p.Trp138Ter, XP_047291592.1:p.Trp138Cys, XP_047291605.1:p.Trp138Ter, XP_047291605.1:p.Trp138Cys, XP_047291604.1:p.Trp138Ter, XP_047291604.1:p.Trp138Cys, XP_047291600.1:p.Trp138Ter, XP_047291600.1:p.Trp138Cys, XP_047291603.1:p.Trp138Ter, XP_047291603.1:p.Trp138Cys, XP_047291599.1:p.Trp138Ter, XP_047291599.1:p.Trp138Cys, XP_047291595.1:p.Trp138Ter, XP_047291595.1:p.Trp138Cys, XP_047291590.1:p.Trp138Ter, XP_047291590.1:p.Trp138Cys, XP_047291602.1:p.Trp138Ter, XP_047291602.1:p.Trp138Cys, XP_047291589.1:p.Trp138Ter, XP_047291589.1:p.Trp138Cys, XP_047291596.1:p.Trp138Ter, XP_047291596.1:p.Trp138Cys, XP_047291601.1:p.Trp138Ter, XP_047291601.1:p.Trp138Cys, XP_047291597.1:p.Trp138Ter, XP_047291597.1:p.Trp138Cys, XP_047291593.1:p.Trp138Ter, XP_047291593.1:p.Trp138Cys, XP_047291598.1:p.Trp138Ter, XP_047291598.1:p.Trp138Cys, XP_047291609.1:p.Trp138Ter, XP_047291609.1:p.Trp138Cys, XP_047291611.1:p.Trp138Ter, XP_047291611.1:p.Trp138Cys, XP_047291610.1:p.Trp138Ter, XP_047291610.1:p.Trp138Cys, XP_047291607.1:p.Trp138Ter, XP_047291607.1:p.Trp138Cys, XP_047291608.1:p.Trp138Ter, XP_047291608.1:p.Trp138Cys

            6.

            rs1482302361 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              17:68368626 (GRCh38)
              17:66364767 (GRCh37)
              Canonical SPDI:
              NC_000017.11:68368625:A:G
              Gene:
              ARSG (Varview)
              Functional Consequence:
              synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0.000111/1 (ALFA)
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000017.11:g.68368626A>G, NC_000017.10:g.66364767A>G, NG_032814.2:g.114538A>G, NM_014960.5:c.783A>G, NM_014960.4:c.783A>G, NM_001352903.2:c.780A>G, NM_001352903.1:c.780A>G, NM_001352900.2:c.783A>G, NM_001352900.1:c.783A>G, NM_001352901.2:c.783A>G, NM_001352901.1:c.783A>G, NM_001352907.2:c.780A>G, NM_001352907.1:c.780A>G, NM_001352910.2:c.783A>G, NM_001352910.1:c.783A>G, NM_001352902.2:c.783A>G, NM_001352902.1:c.783A>G, NM_001352904.2:c.780A>G, NM_001352904.1:c.780A>G, NM_001352905.2:c.780A>G, NM_001352905.1:c.780A>G, NM_001352899.2:c.783A>G, NM_001352899.1:c.783A>G, NM_001352906.2:c.780A>G, NM_001352906.1:c.780A>G, NM_001352909.2:c.735A>G, NM_001352909.1:c.735A>G, NM_001267727.2:c.783A>G, NM_001267727.1:c.783A>G, XM_017024360.3:c.783A>G, XM_017024360.2:c.783A>G, XM_017024360.1:c.783A>G, XM_011524536.3:c.783A>G, XM_011524536.2:c.783A>G, XM_011524536.1:c.783A>G, XM_011524546.3:c.36A>G, XM_011524546.2:c.36A>G, XM_011524546.1:c.36A>G, XM_011524537.2:c.783A>G, XM_011524537.1:c.783A>G, XM_017024368.2:c.783A>G, XM_017024368.1:c.783A>G, XM_017024365.2:c.783A>G, XM_017024365.1:c.783A>G, XM_047435635.1:c.783A>G, XM_047435632.1:c.783A>G, XM_047435638.1:c.783A>G, XM_047435636.1:c.780A>G, XM_047435649.1:c.783A>G, XM_047435648.1:c.783A>G, XM_047435650.1:c.291A>G, XM_047435644.1:c.783A>G, XM_047435647.1:c.783A>G, XM_047435643.1:c.783A>G, XM_047435639.1:c.783A>G, XM_047435634.1:c.783A>G, XM_047435646.1:c.783A>G, XM_047435633.1:c.783A>G, XM_047435640.1:c.783A>G, XM_047435645.1:c.783A>G, XM_047435641.1:c.783A>G, XR_007065287.1:n.1408A>G, XM_047435637.1:c.783A>G, XM_047435642.1:c.783A>G, XM_047435653.1:c.783A>G, XM_047435655.1:c.783A>G, XM_047435654.1:c.783A>G, XM_047435651.1:c.783A>G, XM_047435652.1:c.783A>G

              7.

              rs1473473621 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                17:68351675 (GRCh38)
                17:66347816 (GRCh37)
                Canonical SPDI:
                NC_000017.11:68351674:T:C
                Gene:
                ARSG (Varview)
                Functional Consequence:
                synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0.000111/1 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000017.11:g.68351675T>C, NC_000017.10:g.66347816T>C, NG_032814.2:g.97587T>C, NM_014960.5:c.555T>C, NM_014960.4:c.555T>C, NM_001352903.2:c.555T>C, NM_001352903.1:c.555T>C, NM_001352900.2:c.555T>C, NM_001352900.1:c.555T>C, NM_001352901.2:c.555T>C, NM_001352901.1:c.555T>C, NM_001352907.2:c.555T>C, NM_001352907.1:c.555T>C, NM_001352910.2:c.555T>C, NM_001352910.1:c.555T>C, NM_001352902.2:c.555T>C, NM_001352902.1:c.555T>C, NM_001352904.2:c.555T>C, NM_001352904.1:c.555T>C, NM_001352905.2:c.555T>C, NM_001352905.1:c.555T>C, NM_001352899.2:c.555T>C, NM_001352899.1:c.555T>C, NM_001352906.2:c.555T>C, NM_001352906.1:c.555T>C, NM_001352909.2:c.507T>C, NM_001352909.1:c.507T>C, NM_001267727.2:c.555T>C, NM_001267727.1:c.555T>C, XM_017024360.3:c.555T>C, XM_017024360.2:c.555T>C, XM_017024360.1:c.555T>C, XM_011524536.3:c.555T>C, XM_011524536.2:c.555T>C, XM_011524536.1:c.555T>C, XM_011524537.2:c.555T>C, XM_011524537.1:c.555T>C, XM_017024368.2:c.555T>C, XM_017024368.1:c.555T>C, XM_017024365.2:c.555T>C, XM_017024365.1:c.555T>C, XM_047435635.1:c.555T>C, XM_047435632.1:c.555T>C, XM_047435638.1:c.555T>C, XM_047435636.1:c.555T>C, XM_047435649.1:c.555T>C, XM_047435648.1:c.555T>C, XM_047435650.1:c.63T>C, XM_047435644.1:c.555T>C, XM_047435647.1:c.555T>C, XM_047435643.1:c.555T>C, XM_047435639.1:c.555T>C, XM_047435634.1:c.555T>C, XM_047435646.1:c.555T>C, XM_047435633.1:c.555T>C, XM_047435640.1:c.555T>C, XM_047435645.1:c.555T>C, XM_047435641.1:c.555T>C, XR_007065287.1:n.1180T>C, XM_047435637.1:c.555T>C, XM_047435642.1:c.555T>C, XM_047435653.1:c.555T>C, XM_047435655.1:c.555T>C, XM_047435654.1:c.555T>C, XM_047435651.1:c.555T>C, XM_047435652.1:c.555T>C

                8.

                rs1470131512 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  17:68343711 (GRCh38)
                  17:66339852 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:68343710:C:T
                  Gene:
                  ARSG (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  NC_000017.11:g.68343711C>T, NC_000017.10:g.66339852C>T, NG_032814.2:g.89623C>T, NM_014960.5:c.326C>T, NM_014960.4:c.326C>T, NM_001352903.2:c.326C>T, NM_001352903.1:c.326C>T, NM_001352900.2:c.326C>T, NM_001352900.1:c.326C>T, NM_001352901.2:c.326C>T, NM_001352901.1:c.326C>T, NM_001352907.2:c.326C>T, NM_001352907.1:c.326C>T, NM_001352910.2:c.326C>T, NM_001352910.1:c.326C>T, NM_001352902.2:c.326C>T, NM_001352902.1:c.326C>T, NM_001352904.2:c.326C>T, NM_001352904.1:c.326C>T, NM_001352905.2:c.326C>T, NM_001352905.1:c.326C>T, NM_001352899.2:c.326C>T, NM_001352899.1:c.326C>T, NM_001352906.2:c.326C>T, NM_001352906.1:c.326C>T, NM_001352909.2:c.326C>T, NM_001352909.1:c.326C>T, NM_001267727.2:c.326C>T, NM_001267727.1:c.326C>T, XM_017024360.3:c.326C>T, XM_017024360.2:c.326C>T, XM_017024360.1:c.326C>T, XM_011524536.3:c.326C>T, XM_011524536.2:c.326C>T, XM_011524536.1:c.326C>T, XM_011524537.2:c.326C>T, XM_011524537.1:c.326C>T, XM_017024368.2:c.326C>T, XM_017024368.1:c.326C>T, XM_017024365.2:c.326C>T, XM_017024365.1:c.326C>T, XM_047435635.1:c.326C>T, XM_047435632.1:c.326C>T, XM_047435638.1:c.326C>T, XM_047435636.1:c.326C>T, XM_047435649.1:c.326C>T, XM_047435648.1:c.326C>T, XM_047435650.1:c.-167C>T, XM_047435644.1:c.326C>T, XM_047435647.1:c.326C>T, XM_047435643.1:c.326C>T, XM_047435639.1:c.326C>T, XM_047435634.1:c.326C>T, XM_047435646.1:c.326C>T, XM_047435633.1:c.326C>T, XM_047435640.1:c.326C>T, XM_047435645.1:c.326C>T, XM_047435641.1:c.326C>T, XR_007065287.1:n.951C>T, XM_047435637.1:c.326C>T, XM_047435642.1:c.326C>T, XM_047435653.1:c.326C>T, XM_047435655.1:c.326C>T, XM_047435654.1:c.326C>T, XM_047435651.1:c.326C>T, XM_047435652.1:c.326C>T, NP_055775.2:p.Thr109Ile, NP_001339832.1:p.Thr109Ile, NP_001339829.1:p.Thr109Ile, NP_001339830.1:p.Thr109Ile, NP_001339836.1:p.Thr109Ile, NP_001339839.1:p.Thr109Ile, NP_001339831.1:p.Thr109Ile, NP_001339833.1:p.Thr109Ile, NP_001339834.1:p.Thr109Ile, NP_001339828.1:p.Thr109Ile, NP_001339835.1:p.Thr109Ile, NP_001339838.1:p.Thr109Ile, NP_001254656.1:p.Thr109Ile, XP_016879849.1:p.Thr109Ile, XP_011522838.1:p.Thr109Ile, XP_011522839.1:p.Thr109Ile, XP_016879857.1:p.Thr109Ile, XP_016879854.1:p.Thr109Ile, XP_047291591.1:p.Thr109Ile, XP_047291588.1:p.Thr109Ile, XP_047291594.1:p.Thr109Ile, XP_047291592.1:p.Thr109Ile, XP_047291605.1:p.Thr109Ile, XP_047291604.1:p.Thr109Ile, XP_047291600.1:p.Thr109Ile, XP_047291603.1:p.Thr109Ile, XP_047291599.1:p.Thr109Ile, XP_047291595.1:p.Thr109Ile, XP_047291590.1:p.Thr109Ile, XP_047291602.1:p.Thr109Ile, XP_047291589.1:p.Thr109Ile, XP_047291596.1:p.Thr109Ile, XP_047291601.1:p.Thr109Ile, XP_047291597.1:p.Thr109Ile, XP_047291593.1:p.Thr109Ile, XP_047291598.1:p.Thr109Ile, XP_047291609.1:p.Thr109Ile, XP_047291611.1:p.Thr109Ile, XP_047291610.1:p.Thr109Ile, XP_047291607.1:p.Thr109Ile, XP_047291608.1:p.Thr109Ile

                  9.

                  rs1467957839 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    G>- [Show Flanks]
                    Chromosome:
                    17:68401414 (GRCh38)
                    17:66397555 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:68401413:G:
                    Gene:
                    ARSG (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
                    Clinical significance:
                    uncertain-significance
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0.00009/1 (ALFA)
                    HGVS:
                    NC_000017.11:g.68401414del, NC_000017.10:g.66397555del, NG_032814.2:g.147326del, NM_014960.5:c.1267del, NM_014960.4:c.1267del, NM_001352903.2:c.1264del, NM_001352903.1:c.1264del, NM_001352900.2:c.1267del, NM_001352900.1:c.1267del, NM_001352901.2:c.1267del, NM_001352901.1:c.1267del, NM_001352907.2:c.1264del, NM_001352907.1:c.1264del, NM_001352910.2:c.1267del, NM_001352910.1:c.1267del, NM_001352902.2:c.1267del, NM_001352902.1:c.1267del, NM_001352904.2:c.1264del, NM_001352904.1:c.1264del, NM_001352905.2:c.1264del, NM_001352905.1:c.1264del, NM_001352899.2:c.1267del, NM_001352899.1:c.1267del, NM_001352906.2:c.1264del, NM_001352906.1:c.1264del, NM_001352909.2:c.1219del, NM_001352909.1:c.1219del, NM_001267727.2:c.1267del, NM_001267727.1:c.1267del, XM_017024360.3:c.1348del, XM_017024360.2:c.1348del, XM_017024360.1:c.1348del, XM_011524536.3:c.1348del, XM_011524536.2:c.1348del, XM_011524536.1:c.1348del, XM_011524546.3:c.601del, XM_011524546.2:c.601del, XM_011524546.1:c.601del, XM_011524537.2:c.1348del, XM_011524537.1:c.1348del, XM_017024368.2:c.1146del, XM_017024368.1:c.1146del, XM_017024365.2:c.1267del, XM_017024365.1:c.1267del, XM_047435635.1:c.1348del, XM_047435632.1:c.1348del, XM_047435638.1:c.1267del, XM_047435636.1:c.1345del, XM_047435649.1:c.1146del, XM_047435648.1:c.1146del, XM_047435650.1:c.775del, XM_047435644.1:c.1267del, XM_047435647.1:c.1146del, XM_047435643.1:c.1146del, XM_047435639.1:c.1267del, XM_047435634.1:c.1348del, XM_047435646.1:c.1267del, XM_047435633.1:c.1348del, XM_047435640.1:c.1267del, XM_047435645.1:c.1267del, XR_007065287.1:n.1771del, XM_047435637.1:c.1348del, XM_047435642.1:c.1146del, NP_055775.2:p.Val423fs, NP_001339832.1:p.Val422fs, NP_001339829.1:p.Val423fs, NP_001339830.1:p.Val423fs, NP_001339836.1:p.Val422fs, NP_001339839.1:p.Val423fs, NP_001339831.1:p.Val423fs, NP_001339833.1:p.Val422fs, NP_001339834.1:p.Val422fs, NP_001339828.1:p.Val423fs, NP_001339835.1:p.Val422fs, NP_001339838.1:p.Val407fs, NP_001254656.1:p.Val423fs, XP_016879849.1:p.Val450fs, XP_011522838.1:p.Val450fs, XP_011522848.1:p.Val201fs, XP_011522839.1:p.Val450fs, XP_016879857.1:p.Ser383fs, XP_016879854.1:p.Val423fs, XP_047291591.1:p.Val450fs, XP_047291588.1:p.Val450fs, XP_047291594.1:p.Val423fs, XP_047291592.1:p.Val449fs, XP_047291605.1:p.Ser383fs, XP_047291604.1:p.Ser383fs, XP_047291606.1:p.Val259fs, XP_047291600.1:p.Val423fs, XP_047291603.1:p.Ser383fs, XP_047291599.1:p.Ser383fs, XP_047291595.1:p.Val423fs, XP_047291590.1:p.Val450fs, XP_047291602.1:p.Val423fs, XP_047291589.1:p.Val450fs, XP_047291596.1:p.Val423fs, XP_047291601.1:p.Val423fs, XP_047291593.1:p.Val450fs, XP_047291598.1:p.Ser383fs

                    10.

                    rs1466918576 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      17:68356707 (GRCh38)
                      17:66352848 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:68356706:C:A
                      Gene:
                      ARSG (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000017.11:g.68356707C>A, NC_000017.10:g.66352848C>A, NG_032814.2:g.102619C>A, NM_014960.5:c.607C>A, NM_014960.4:c.607C>A, NM_001352903.2:c.607C>A, NM_001352903.1:c.607C>A, NM_001352900.2:c.607C>A, NM_001352900.1:c.607C>A, NM_001352901.2:c.607C>A, NM_001352901.1:c.607C>A, NM_001352907.2:c.607C>A, NM_001352907.1:c.607C>A, NM_001352910.2:c.607C>A, NM_001352910.1:c.607C>A, NM_001352902.2:c.607C>A, NM_001352902.1:c.607C>A, NM_001352904.2:c.607C>A, NM_001352904.1:c.607C>A, NM_001352905.2:c.607C>A, NM_001352905.1:c.607C>A, NM_001352899.2:c.607C>A, NM_001352899.1:c.607C>A, NM_001352906.2:c.607C>A, NM_001352906.1:c.607C>A, NM_001352909.2:c.559C>A, NM_001352909.1:c.559C>A, NM_001267727.2:c.607C>A, NM_001267727.1:c.607C>A, XM_017024360.3:c.607C>A, XM_017024360.2:c.607C>A, XM_017024360.1:c.607C>A, XM_011524536.3:c.607C>A, XM_011524536.2:c.607C>A, XM_011524536.1:c.607C>A, XM_011524537.2:c.607C>A, XM_011524537.1:c.607C>A, XM_017024368.2:c.607C>A, XM_017024368.1:c.607C>A, XM_017024365.2:c.607C>A, XM_017024365.1:c.607C>A, XM_047435635.1:c.607C>A, XM_047435632.1:c.607C>A, XM_047435638.1:c.607C>A, XM_047435636.1:c.607C>A, XM_047435649.1:c.607C>A, XM_047435648.1:c.607C>A, XM_047435650.1:c.115C>A, XM_047435644.1:c.607C>A, XM_047435647.1:c.607C>A, XM_047435643.1:c.607C>A, XM_047435639.1:c.607C>A, XM_047435634.1:c.607C>A, XM_047435646.1:c.607C>A, XM_047435633.1:c.607C>A, XM_047435640.1:c.607C>A, XM_047435645.1:c.607C>A, XM_047435641.1:c.607C>A, XR_007065287.1:n.1232C>A, XM_047435637.1:c.607C>A, XM_047435642.1:c.607C>A, XM_047435653.1:c.607C>A, XM_047435655.1:c.607C>A, XM_047435654.1:c.607C>A, XM_047435651.1:c.607C>A, XM_047435652.1:c.607C>A, NP_055775.2:p.Leu203Ile, NP_001339832.1:p.Leu203Ile, NP_001339829.1:p.Leu203Ile, NP_001339830.1:p.Leu203Ile, NP_001339836.1:p.Leu203Ile, NP_001339839.1:p.Leu203Ile, NP_001339831.1:p.Leu203Ile, NP_001339833.1:p.Leu203Ile, NP_001339834.1:p.Leu203Ile, NP_001339828.1:p.Leu203Ile, NP_001339835.1:p.Leu203Ile, NP_001339838.1:p.Leu187Ile, NP_001254656.1:p.Leu203Ile, XP_016879849.1:p.Leu203Ile, XP_011522838.1:p.Leu203Ile, XP_011522839.1:p.Leu203Ile, XP_016879857.1:p.Leu203Ile, XP_016879854.1:p.Leu203Ile, XP_047291591.1:p.Leu203Ile, XP_047291588.1:p.Leu203Ile, XP_047291594.1:p.Leu203Ile, XP_047291592.1:p.Leu203Ile, XP_047291605.1:p.Leu203Ile, XP_047291604.1:p.Leu203Ile, XP_047291606.1:p.Leu39Ile, XP_047291600.1:p.Leu203Ile, XP_047291603.1:p.Leu203Ile, XP_047291599.1:p.Leu203Ile, XP_047291595.1:p.Leu203Ile, XP_047291590.1:p.Leu203Ile, XP_047291602.1:p.Leu203Ile, XP_047291589.1:p.Leu203Ile, XP_047291596.1:p.Leu203Ile, XP_047291601.1:p.Leu203Ile, XP_047291597.1:p.Leu203Ile, XP_047291593.1:p.Leu203Ile, XP_047291598.1:p.Leu203Ile, XP_047291609.1:p.Leu203Ile, XP_047291611.1:p.Leu203Ile, XP_047291610.1:p.Leu203Ile, XP_047291607.1:p.Leu203Ile, XP_047291608.1:p.Leu203Ile

                      11.

                      rs1463260776 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        17:68385129 (GRCh38)
                        17:66381270 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:68385128:C:T
                        Gene:
                        ARSG (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000017.11:g.68385129C>T, NC_000017.10:g.66381270C>T, NG_032814.2:g.131041C>T, NM_014960.5:c.1048C>T, NM_014960.4:c.1048C>T, NM_001352903.2:c.1045C>T, NM_001352903.1:c.1045C>T, NM_001352900.2:c.1048C>T, NM_001352900.1:c.1048C>T, NM_001352901.2:c.1048C>T, NM_001352901.1:c.1048C>T, NM_001352907.2:c.1045C>T, NM_001352907.1:c.1045C>T, NM_001352910.2:c.1048C>T, NM_001352910.1:c.1048C>T, NM_001352902.2:c.1048C>T, NM_001352902.1:c.1048C>T, NM_001352904.2:c.1045C>T, NM_001352904.1:c.1045C>T, NM_001352905.2:c.1045C>T, NM_001352905.1:c.1045C>T, NM_001352899.2:c.1048C>T, NM_001352899.1:c.1048C>T, NM_001352906.2:c.1045C>T, NM_001352906.1:c.1045C>T, NM_001352909.2:c.1000C>T, NM_001352909.1:c.1000C>T, NM_001267727.2:c.1048C>T, NM_001267727.1:c.1048C>T, XM_017024360.3:c.1048C>T, XM_017024360.2:c.1048C>T, XM_017024360.1:c.1048C>T, XM_011524536.3:c.1048C>T, XM_011524536.2:c.1048C>T, XM_011524536.1:c.1048C>T, XM_011524546.3:c.301C>T, XM_011524546.2:c.301C>T, XM_011524546.1:c.301C>T, XM_011524537.2:c.1048C>T, XM_011524537.1:c.1048C>T, XM_017024368.2:c.1048C>T, XM_017024368.1:c.1048C>T, XM_017024365.2:c.1048C>T, XM_017024365.1:c.1048C>T, XM_047435635.1:c.1048C>T, XM_047435632.1:c.1048C>T, XM_047435638.1:c.1048C>T, XM_047435636.1:c.1045C>T, XM_047435649.1:c.1048C>T, XM_047435648.1:c.1048C>T, XM_047435650.1:c.556C>T, XM_047435644.1:c.1048C>T, XM_047435647.1:c.1048C>T, XM_047435643.1:c.1048C>T, XM_047435639.1:c.1048C>T, XM_047435634.1:c.1048C>T, XM_047435646.1:c.1048C>T, XM_047435633.1:c.1048C>T, XM_047435640.1:c.1048C>T, XM_047435645.1:c.1048C>T, XM_047435641.1:c.1048C>T, XR_007065287.1:n.1673C>T, XM_047435637.1:c.1048C>T, XM_047435642.1:c.1048C>T, NP_055775.2:p.Pro350Ser, NP_001339832.1:p.Pro349Ser, NP_001339829.1:p.Pro350Ser, NP_001339830.1:p.Pro350Ser, NP_001339836.1:p.Pro349Ser, NP_001339839.1:p.Pro350Ser, NP_001339831.1:p.Pro350Ser, NP_001339833.1:p.Pro349Ser, NP_001339834.1:p.Pro349Ser, NP_001339828.1:p.Pro350Ser, NP_001339835.1:p.Pro349Ser, NP_001339838.1:p.Pro334Ser, NP_001254656.1:p.Pro350Ser, XP_016879849.1:p.Pro350Ser, XP_011522838.1:p.Pro350Ser, XP_011522848.1:p.Pro101Ser, XP_011522839.1:p.Pro350Ser, XP_016879857.1:p.Pro350Ser, XP_016879854.1:p.Pro350Ser, XP_047291591.1:p.Pro350Ser, XP_047291588.1:p.Pro350Ser, XP_047291594.1:p.Pro350Ser, XP_047291592.1:p.Pro349Ser, XP_047291605.1:p.Pro350Ser, XP_047291604.1:p.Pro350Ser, XP_047291606.1:p.Pro186Ser, XP_047291600.1:p.Pro350Ser, XP_047291603.1:p.Pro350Ser, XP_047291599.1:p.Pro350Ser, XP_047291595.1:p.Pro350Ser, XP_047291590.1:p.Pro350Ser, XP_047291602.1:p.Pro350Ser, XP_047291589.1:p.Pro350Ser, XP_047291596.1:p.Pro350Ser, XP_047291601.1:p.Pro350Ser, XP_047291597.1:p.Pro350Ser, XP_047291593.1:p.Pro350Ser, XP_047291598.1:p.Pro350Ser

                        12.

                        rs1461827448 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          17:68307695 (GRCh38)
                          17:66303836 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:68307694:G:A
                          Gene:
                          ARSG (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000017.11:g.68307695G>A, NC_000017.10:g.66303836G>A, NG_032814.2:g.53607G>A, NM_014960.5:c.202G>A, NM_014960.4:c.202G>A, NM_001352903.2:c.202G>A, NM_001352903.1:c.202G>A, NM_001352900.2:c.202G>A, NM_001352900.1:c.202G>A, NM_001352901.2:c.202G>A, NM_001352901.1:c.202G>A, NM_001352907.2:c.202G>A, NM_001352907.1:c.202G>A, NM_001352910.2:c.202G>A, NM_001352910.1:c.202G>A, NM_001352902.2:c.202G>A, NM_001352902.1:c.202G>A, NM_001352904.2:c.202G>A, NM_001352904.1:c.202G>A, NM_001352905.2:c.202G>A, NM_001352905.1:c.202G>A, NM_001352899.2:c.202G>A, NM_001352899.1:c.202G>A, NM_001352906.2:c.202G>A, NM_001352906.1:c.202G>A, NM_001352909.2:c.202G>A, NM_001352909.1:c.202G>A, NM_001267727.2:c.202G>A, NM_001267727.1:c.202G>A, NW_003871088.1:g.367706G>A, XM_017024360.3:c.202G>A, XM_017024360.2:c.202G>A, XM_017024360.1:c.202G>A, XM_011524536.3:c.202G>A, XM_011524536.2:c.202G>A, XM_011524536.1:c.202G>A, XM_011524537.2:c.202G>A, XM_011524537.1:c.202G>A, XM_017024368.2:c.202G>A, XM_017024368.1:c.202G>A, XM_017024365.2:c.202G>A, XM_017024365.1:c.202G>A, XM_047435635.1:c.202G>A, XM_047435632.1:c.202G>A, XM_047435638.1:c.202G>A, XM_047435636.1:c.202G>A, XM_047435649.1:c.202G>A, XM_047435648.1:c.202G>A, XM_047435644.1:c.202G>A, XM_047435647.1:c.202G>A, XM_047435643.1:c.202G>A, XM_047435639.1:c.202G>A, XM_047435634.1:c.202G>A, XM_047435646.1:c.202G>A, XM_047435633.1:c.202G>A, XM_047435640.1:c.202G>A, XM_047435645.1:c.202G>A, XM_047435641.1:c.202G>A, XR_007065287.1:n.827G>A, XM_047435637.1:c.202G>A, XM_047435642.1:c.202G>A, XM_047435653.1:c.202G>A, XM_047435655.1:c.202G>A, XM_047435654.1:c.202G>A, XM_047435651.1:c.202G>A, XM_047435652.1:c.202G>A, NP_055775.2:p.Ala68Thr, NP_001339832.1:p.Ala68Thr, NP_001339829.1:p.Ala68Thr, NP_001339830.1:p.Ala68Thr, NP_001339836.1:p.Ala68Thr, NP_001339839.1:p.Ala68Thr, NP_001339831.1:p.Ala68Thr, NP_001339833.1:p.Ala68Thr, NP_001339834.1:p.Ala68Thr, NP_001339828.1:p.Ala68Thr, NP_001339835.1:p.Ala68Thr, NP_001339838.1:p.Ala68Thr, NP_001254656.1:p.Ala68Thr, XP_016879849.1:p.Ala68Thr, XP_011522838.1:p.Ala68Thr, XP_011522839.1:p.Ala68Thr, XP_016879857.1:p.Ala68Thr, XP_016879854.1:p.Ala68Thr, XP_047291591.1:p.Ala68Thr, XP_047291588.1:p.Ala68Thr, XP_047291594.1:p.Ala68Thr, XP_047291592.1:p.Ala68Thr, XP_047291605.1:p.Ala68Thr, XP_047291604.1:p.Ala68Thr, XP_047291600.1:p.Ala68Thr, XP_047291603.1:p.Ala68Thr, XP_047291599.1:p.Ala68Thr, XP_047291595.1:p.Ala68Thr, XP_047291590.1:p.Ala68Thr, XP_047291602.1:p.Ala68Thr, XP_047291589.1:p.Ala68Thr, XP_047291596.1:p.Ala68Thr, XP_047291601.1:p.Ala68Thr, XP_047291597.1:p.Ala68Thr, XP_047291593.1:p.Ala68Thr, XP_047291598.1:p.Ala68Thr, XP_047291609.1:p.Ala68Thr, XP_047291611.1:p.Ala68Thr, XP_047291610.1:p.Ala68Thr, XP_047291607.1:p.Ala68Thr, XP_047291608.1:p.Ala68Thr

                          13.

                          rs1461351069 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            17:68347138 (GRCh38)
                            17:66343279 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:68347137:T:C
                            Gene:
                            ARSG (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000071/1 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000017.11:g.68347138T>C, NC_000017.10:g.66343279T>C, NG_032814.2:g.93050T>C, NM_014960.5:c.420T>C, NM_014960.4:c.420T>C, NM_001352903.2:c.420T>C, NM_001352903.1:c.420T>C, NM_001352900.2:c.420T>C, NM_001352900.1:c.420T>C, NM_001352901.2:c.420T>C, NM_001352901.1:c.420T>C, NM_001352907.2:c.420T>C, NM_001352907.1:c.420T>C, NM_001352910.2:c.420T>C, NM_001352910.1:c.420T>C, NM_001352902.2:c.420T>C, NM_001352902.1:c.420T>C, NM_001352904.2:c.420T>C, NM_001352904.1:c.420T>C, NM_001352905.2:c.420T>C, NM_001352905.1:c.420T>C, NM_001352899.2:c.420T>C, NM_001352899.1:c.420T>C, NM_001352906.2:c.420T>C, NM_001352906.1:c.420T>C, NM_001267727.2:c.420T>C, NM_001267727.1:c.420T>C, XM_017024360.3:c.420T>C, XM_017024360.2:c.420T>C, XM_017024360.1:c.420T>C, XM_011524536.3:c.420T>C, XM_011524536.2:c.420T>C, XM_011524536.1:c.420T>C, XM_011524537.2:c.420T>C, XM_011524537.1:c.420T>C, XM_017024368.2:c.420T>C, XM_017024368.1:c.420T>C, XM_017024365.2:c.420T>C, XM_017024365.1:c.420T>C, XM_047435635.1:c.420T>C, XM_047435632.1:c.420T>C, XM_047435638.1:c.420T>C, XM_047435636.1:c.420T>C, XM_047435649.1:c.420T>C, XM_047435648.1:c.420T>C, XM_047435650.1:c.-73T>C, XM_047435644.1:c.420T>C, XM_047435647.1:c.420T>C, XM_047435643.1:c.420T>C, XM_047435639.1:c.420T>C, XM_047435634.1:c.420T>C, XM_047435646.1:c.420T>C, XM_047435633.1:c.420T>C, XM_047435640.1:c.420T>C, XM_047435645.1:c.420T>C, XM_047435641.1:c.420T>C, XR_007065287.1:n.1045T>C, XM_047435637.1:c.420T>C, XM_047435642.1:c.420T>C, XM_047435653.1:c.420T>C, XM_047435655.1:c.420T>C, XM_047435654.1:c.420T>C, XM_047435651.1:c.420T>C, XM_047435652.1:c.420T>C

                            14.

                            rs1459954353 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              17:68356706 (GRCh38)
                              17:66352847 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:68356705:T:G
                              Gene:
                              ARSG (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              G=0.000035/1 (TOMMO)
                              HGVS:
                              NC_000017.11:g.68356706T>G, NC_000017.10:g.66352847T>G, NG_032814.2:g.102618T>G, NM_014960.5:c.606T>G, NM_014960.4:c.606T>G, NM_001352903.2:c.606T>G, NM_001352903.1:c.606T>G, NM_001352900.2:c.606T>G, NM_001352900.1:c.606T>G, NM_001352901.2:c.606T>G, NM_001352901.1:c.606T>G, NM_001352907.2:c.606T>G, NM_001352907.1:c.606T>G, NM_001352910.2:c.606T>G, NM_001352910.1:c.606T>G, NM_001352902.2:c.606T>G, NM_001352902.1:c.606T>G, NM_001352904.2:c.606T>G, NM_001352904.1:c.606T>G, NM_001352905.2:c.606T>G, NM_001352905.1:c.606T>G, NM_001352899.2:c.606T>G, NM_001352899.1:c.606T>G, NM_001352906.2:c.606T>G, NM_001352906.1:c.606T>G, NM_001352909.2:c.558T>G, NM_001352909.1:c.558T>G, NM_001267727.2:c.606T>G, NM_001267727.1:c.606T>G, XM_017024360.3:c.606T>G, XM_017024360.2:c.606T>G, XM_017024360.1:c.606T>G, XM_011524536.3:c.606T>G, XM_011524536.2:c.606T>G, XM_011524536.1:c.606T>G, XM_011524537.2:c.606T>G, XM_011524537.1:c.606T>G, XM_017024368.2:c.606T>G, XM_017024368.1:c.606T>G, XM_017024365.2:c.606T>G, XM_017024365.1:c.606T>G, XM_047435635.1:c.606T>G, XM_047435632.1:c.606T>G, XM_047435638.1:c.606T>G, XM_047435636.1:c.606T>G, XM_047435649.1:c.606T>G, XM_047435648.1:c.606T>G, XM_047435650.1:c.114T>G, XM_047435644.1:c.606T>G, XM_047435647.1:c.606T>G, XM_047435643.1:c.606T>G, XM_047435639.1:c.606T>G, XM_047435634.1:c.606T>G, XM_047435646.1:c.606T>G, XM_047435633.1:c.606T>G, XM_047435640.1:c.606T>G, XM_047435645.1:c.606T>G, XM_047435641.1:c.606T>G, XR_007065287.1:n.1231T>G, XM_047435637.1:c.606T>G, XM_047435642.1:c.606T>G, XM_047435653.1:c.606T>G, XM_047435655.1:c.606T>G, XM_047435654.1:c.606T>G, XM_047435651.1:c.606T>G, XM_047435652.1:c.606T>G

                              15.

                              rs1458013462 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                17:68370502 (GRCh38)
                                17:66366643 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:68370501:T:C
                                Gene:
                                ARSG (Varview)
                                Functional Consequence:
                                synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000017.11:g.68370502T>C, NC_000017.10:g.66366643T>C, NG_032814.2:g.116414T>C, NM_014960.5:c.960T>C, NM_014960.4:c.960T>C, NM_001352903.2:c.957T>C, NM_001352903.1:c.957T>C, NM_001352900.2:c.960T>C, NM_001352900.1:c.960T>C, NM_001352901.2:c.960T>C, NM_001352901.1:c.960T>C, NM_001352907.2:c.957T>C, NM_001352907.1:c.957T>C, NM_001352910.2:c.960T>C, NM_001352910.1:c.960T>C, NM_001352902.2:c.960T>C, NM_001352902.1:c.960T>C, NM_001352904.2:c.957T>C, NM_001352904.1:c.957T>C, NM_001352905.2:c.957T>C, NM_001352905.1:c.957T>C, NM_001352899.2:c.960T>C, NM_001352899.1:c.960T>C, NM_001352906.2:c.957T>C, NM_001352906.1:c.957T>C, NM_001352909.2:c.912T>C, NM_001352909.1:c.912T>C, NM_001267727.2:c.960T>C, NM_001267727.1:c.960T>C, XM_017024360.3:c.960T>C, XM_017024360.2:c.960T>C, XM_017024360.1:c.960T>C, XM_011524536.3:c.960T>C, XM_011524536.2:c.960T>C, XM_011524536.1:c.960T>C, XM_011524546.3:c.213T>C, XM_011524546.2:c.213T>C, XM_011524546.1:c.213T>C, XM_011524537.2:c.960T>C, XM_011524537.1:c.960T>C, XM_017024368.2:c.960T>C, XM_017024368.1:c.960T>C, XM_017024365.2:c.960T>C, XM_017024365.1:c.960T>C, XM_047435635.1:c.960T>C, XM_047435632.1:c.960T>C, XM_047435638.1:c.960T>C, XM_047435636.1:c.957T>C, XM_047435649.1:c.960T>C, XM_047435648.1:c.960T>C, XM_047435650.1:c.468T>C, XM_047435644.1:c.960T>C, XM_047435647.1:c.960T>C, XM_047435643.1:c.960T>C, XM_047435639.1:c.960T>C, XM_047435634.1:c.960T>C, XM_047435646.1:c.960T>C, XM_047435633.1:c.960T>C, XM_047435640.1:c.960T>C, XM_047435645.1:c.960T>C, XM_047435641.1:c.960T>C, XR_007065287.1:n.1585T>C, XM_047435637.1:c.960T>C, XM_047435642.1:c.960T>C, XM_047435653.1:c.960T>C, XM_047435655.1:c.960T>C, XM_047435654.1:c.960T>C, XM_047435651.1:c.960T>C, XM_047435652.1:c.960T>C

                                16.

                                rs1456632748 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  17:68343766 (GRCh38)
                                  17:66339907 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:68343765:G:A
                                  Gene:
                                  ARSG (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000017.11:g.68343766G>A, NC_000017.10:g.66339907G>A, NG_032814.2:g.89678G>A, NM_014960.5:c.381G>A, NM_014960.4:c.381G>A, NM_001352903.2:c.381G>A, NM_001352903.1:c.381G>A, NM_001352900.2:c.381G>A, NM_001352900.1:c.381G>A, NM_001352901.2:c.381G>A, NM_001352901.1:c.381G>A, NM_001352907.2:c.381G>A, NM_001352907.1:c.381G>A, NM_001352910.2:c.381G>A, NM_001352910.1:c.381G>A, NM_001352902.2:c.381G>A, NM_001352902.1:c.381G>A, NM_001352904.2:c.381G>A, NM_001352904.1:c.381G>A, NM_001352905.2:c.381G>A, NM_001352905.1:c.381G>A, NM_001352899.2:c.381G>A, NM_001352899.1:c.381G>A, NM_001352906.2:c.381G>A, NM_001352906.1:c.381G>A, NM_001352909.2:c.381G>A, NM_001352909.1:c.381G>A, NM_001267727.2:c.381G>A, NM_001267727.1:c.381G>A, XM_017024360.3:c.381G>A, XM_017024360.2:c.381G>A, XM_017024360.1:c.381G>A, XM_011524536.3:c.381G>A, XM_011524536.2:c.381G>A, XM_011524536.1:c.381G>A, XM_011524537.2:c.381G>A, XM_011524537.1:c.381G>A, XM_017024368.2:c.381G>A, XM_017024368.1:c.381G>A, XM_017024365.2:c.381G>A, XM_017024365.1:c.381G>A, XM_047435635.1:c.381G>A, XM_047435632.1:c.381G>A, XM_047435638.1:c.381G>A, XM_047435636.1:c.381G>A, XM_047435649.1:c.381G>A, XM_047435648.1:c.381G>A, XM_047435650.1:c.-112G>A, XM_047435644.1:c.381G>A, XM_047435647.1:c.381G>A, XM_047435643.1:c.381G>A, XM_047435639.1:c.381G>A, XM_047435634.1:c.381G>A, XM_047435646.1:c.381G>A, XM_047435633.1:c.381G>A, XM_047435640.1:c.381G>A, XM_047435645.1:c.381G>A, XM_047435641.1:c.381G>A, XR_007065287.1:n.1006G>A, XM_047435637.1:c.381G>A, XM_047435642.1:c.381G>A, XM_047435653.1:c.381G>A, XM_047435655.1:c.381G>A, XM_047435654.1:c.381G>A, XM_047435651.1:c.381G>A, XM_047435652.1:c.381G>A

                                  17.

                                  rs1451944480 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    17:68385091 (GRCh38)
                                    17:66381232 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:68385090:G:A
                                    Gene:
                                    ARSG (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,stop_gained,non_coding_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000017.11:g.68385091G>A, NC_000017.10:g.66381232G>A, NG_032814.2:g.131003G>A, NM_014960.5:c.1010G>A, NM_014960.4:c.1010G>A, NM_001352903.2:c.1007G>A, NM_001352903.1:c.1007G>A, NM_001352900.2:c.1010G>A, NM_001352900.1:c.1010G>A, NM_001352901.2:c.1010G>A, NM_001352901.1:c.1010G>A, NM_001352907.2:c.1007G>A, NM_001352907.1:c.1007G>A, NM_001352910.2:c.1010G>A, NM_001352910.1:c.1010G>A, NM_001352902.2:c.1010G>A, NM_001352902.1:c.1010G>A, NM_001352904.2:c.1007G>A, NM_001352904.1:c.1007G>A, NM_001352905.2:c.1007G>A, NM_001352905.1:c.1007G>A, NM_001352899.2:c.1010G>A, NM_001352899.1:c.1010G>A, NM_001352906.2:c.1007G>A, NM_001352906.1:c.1007G>A, NM_001352909.2:c.962G>A, NM_001352909.1:c.962G>A, NM_001267727.2:c.1010G>A, NM_001267727.1:c.1010G>A, XM_017024360.3:c.1010G>A, XM_017024360.2:c.1010G>A, XM_017024360.1:c.1010G>A, XM_011524536.3:c.1010G>A, XM_011524536.2:c.1010G>A, XM_011524536.1:c.1010G>A, XM_011524546.3:c.263G>A, XM_011524546.2:c.263G>A, XM_011524546.1:c.263G>A, XM_011524537.2:c.1010G>A, XM_011524537.1:c.1010G>A, XM_017024368.2:c.1010G>A, XM_017024368.1:c.1010G>A, XM_017024365.2:c.1010G>A, XM_017024365.1:c.1010G>A, XM_047435635.1:c.1010G>A, XM_047435632.1:c.1010G>A, XM_047435638.1:c.1010G>A, XM_047435636.1:c.1007G>A, XM_047435649.1:c.1010G>A, XM_047435648.1:c.1010G>A, XM_047435650.1:c.518G>A, XM_047435644.1:c.1010G>A, XM_047435647.1:c.1010G>A, XM_047435643.1:c.1010G>A, XM_047435639.1:c.1010G>A, XM_047435634.1:c.1010G>A, XM_047435646.1:c.1010G>A, XM_047435633.1:c.1010G>A, XM_047435640.1:c.1010G>A, XM_047435645.1:c.1010G>A, XM_047435641.1:c.1010G>A, XR_007065287.1:n.1635G>A, XM_047435637.1:c.1010G>A, XM_047435642.1:c.1010G>A, NP_055775.2:p.Trp337Ter, NP_001339832.1:p.Trp336Ter, NP_001339829.1:p.Trp337Ter, NP_001339830.1:p.Trp337Ter, NP_001339836.1:p.Trp336Ter, NP_001339839.1:p.Trp337Ter, NP_001339831.1:p.Trp337Ter, NP_001339833.1:p.Trp336Ter, NP_001339834.1:p.Trp336Ter, NP_001339828.1:p.Trp337Ter, NP_001339835.1:p.Trp336Ter, NP_001339838.1:p.Trp321Ter, NP_001254656.1:p.Trp337Ter, XP_016879849.1:p.Trp337Ter, XP_011522838.1:p.Trp337Ter, XP_011522848.1:p.Trp88Ter, XP_011522839.1:p.Trp337Ter, XP_016879857.1:p.Trp337Ter, XP_016879854.1:p.Trp337Ter, XP_047291591.1:p.Trp337Ter, XP_047291588.1:p.Trp337Ter, XP_047291594.1:p.Trp337Ter, XP_047291592.1:p.Trp336Ter, XP_047291605.1:p.Trp337Ter, XP_047291604.1:p.Trp337Ter, XP_047291606.1:p.Trp173Ter, XP_047291600.1:p.Trp337Ter, XP_047291603.1:p.Trp337Ter, XP_047291599.1:p.Trp337Ter, XP_047291595.1:p.Trp337Ter, XP_047291590.1:p.Trp337Ter, XP_047291602.1:p.Trp337Ter, XP_047291589.1:p.Trp337Ter, XP_047291596.1:p.Trp337Ter, XP_047291601.1:p.Trp337Ter, XP_047291597.1:p.Trp337Ter, XP_047291593.1:p.Trp337Ter, XP_047291598.1:p.Trp337Ter

                                    18.

                                    rs1450573573 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      17:68307574 (GRCh38)
                                      17:66303715 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:68307573:C:T
                                      Gene:
                                      ARSG (Varview)
                                      Functional Consequence:
                                      synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000017.11:g.68307574C>T, NC_000017.10:g.66303715C>T, NG_032814.2:g.53486C>T, NM_014960.5:c.81C>T, NM_014960.4:c.81C>T, NM_001352903.2:c.81C>T, NM_001352903.1:c.81C>T, NM_001352900.2:c.81C>T, NM_001352900.1:c.81C>T, NM_001352901.2:c.81C>T, NM_001352901.1:c.81C>T, NM_001352907.2:c.81C>T, NM_001352907.1:c.81C>T, NM_001352910.2:c.81C>T, NM_001352910.1:c.81C>T, NM_001352902.2:c.81C>T, NM_001352902.1:c.81C>T, NM_001352904.2:c.81C>T, NM_001352904.1:c.81C>T, NM_001352905.2:c.81C>T, NM_001352905.1:c.81C>T, NM_001352899.2:c.81C>T, NM_001352899.1:c.81C>T, NM_001352906.2:c.81C>T, NM_001352906.1:c.81C>T, NM_001352909.2:c.81C>T, NM_001352909.1:c.81C>T, NM_001267727.2:c.81C>T, NM_001267727.1:c.81C>T, NW_003871088.1:g.367585C>T, XM_017024360.3:c.81C>T, XM_017024360.2:c.81C>T, XM_017024360.1:c.81C>T, XM_011524536.3:c.81C>T, XM_011524536.2:c.81C>T, XM_011524536.1:c.81C>T, XM_011524537.2:c.81C>T, XM_011524537.1:c.81C>T, XM_017024368.2:c.81C>T, XM_017024368.1:c.81C>T, XM_017024365.2:c.81C>T, XM_017024365.1:c.81C>T, XM_047435635.1:c.81C>T, XM_047435632.1:c.81C>T, XM_047435638.1:c.81C>T, XM_047435636.1:c.81C>T, XM_047435649.1:c.81C>T, XM_047435648.1:c.81C>T, XM_047435644.1:c.81C>T, XM_047435647.1:c.81C>T, XM_047435643.1:c.81C>T, XM_047435639.1:c.81C>T, XM_047435634.1:c.81C>T, XM_047435646.1:c.81C>T, XM_047435633.1:c.81C>T, XM_047435640.1:c.81C>T, XM_047435645.1:c.81C>T, XM_047435641.1:c.81C>T, XR_007065287.1:n.706C>T, XM_047435637.1:c.81C>T, XM_047435642.1:c.81C>T, XM_047435653.1:c.81C>T, XM_047435655.1:c.81C>T, XM_047435654.1:c.81C>T, XM_047435651.1:c.81C>T, XM_047435652.1:c.81C>T

                                      19.

                                      rs1450209042 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        17:68368703 (GRCh38)
                                        17:66364844 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:68368702:T:C
                                        Gene:
                                        ARSG (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        Clinical significance:
                                        uncertain-significance
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000017.11:g.68368703T>C, NC_000017.10:g.66364844T>C, NG_032814.2:g.114615T>C, NM_014960.5:c.860T>C, NM_014960.4:c.860T>C, NM_001352903.2:c.857T>C, NM_001352903.1:c.857T>C, NM_001352900.2:c.860T>C, NM_001352900.1:c.860T>C, NM_001352901.2:c.860T>C, NM_001352901.1:c.860T>C, NM_001352907.2:c.857T>C, NM_001352907.1:c.857T>C, NM_001352910.2:c.860T>C, NM_001352910.1:c.860T>C, NM_001352902.2:c.860T>C, NM_001352902.1:c.860T>C, NM_001352904.2:c.857T>C, NM_001352904.1:c.857T>C, NM_001352905.2:c.857T>C, NM_001352905.1:c.857T>C, NM_001352899.2:c.860T>C, NM_001352899.1:c.860T>C, NM_001352906.2:c.857T>C, NM_001352906.1:c.857T>C, NM_001352909.2:c.812T>C, NM_001352909.1:c.812T>C, NM_001267727.2:c.860T>C, NM_001267727.1:c.860T>C, XM_017024360.3:c.860T>C, XM_017024360.2:c.860T>C, XM_017024360.1:c.860T>C, XM_011524536.3:c.860T>C, XM_011524536.2:c.860T>C, XM_011524536.1:c.860T>C, XM_011524546.3:c.113T>C, XM_011524546.2:c.113T>C, XM_011524546.1:c.113T>C, XM_011524537.2:c.860T>C, XM_011524537.1:c.860T>C, XM_017024368.2:c.860T>C, XM_017024368.1:c.860T>C, XM_017024365.2:c.860T>C, XM_017024365.1:c.860T>C, XM_047435635.1:c.860T>C, XM_047435632.1:c.860T>C, XM_047435638.1:c.860T>C, XM_047435636.1:c.857T>C, XM_047435649.1:c.860T>C, XM_047435648.1:c.860T>C, XM_047435650.1:c.368T>C, XM_047435644.1:c.860T>C, XM_047435647.1:c.860T>C, XM_047435643.1:c.860T>C, XM_047435639.1:c.860T>C, XM_047435634.1:c.860T>C, XM_047435646.1:c.860T>C, XM_047435633.1:c.860T>C, XM_047435640.1:c.860T>C, XM_047435645.1:c.860T>C, XM_047435641.1:c.860T>C, XR_007065287.1:n.1485T>C, XM_047435637.1:c.860T>C, XM_047435642.1:c.860T>C, XM_047435653.1:c.860T>C, XM_047435655.1:c.860T>C, XM_047435654.1:c.860T>C, XM_047435651.1:c.860T>C, XM_047435652.1:c.860T>C, NP_055775.2:p.Val287Ala, NP_001339832.1:p.Val286Ala, NP_001339829.1:p.Val287Ala, NP_001339830.1:p.Val287Ala, NP_001339836.1:p.Val286Ala, NP_001339839.1:p.Val287Ala, NP_001339831.1:p.Val287Ala, NP_001339833.1:p.Val286Ala, NP_001339834.1:p.Val286Ala, NP_001339828.1:p.Val287Ala, NP_001339835.1:p.Val286Ala, NP_001339838.1:p.Val271Ala, NP_001254656.1:p.Val287Ala, XP_016879849.1:p.Val287Ala, XP_011522838.1:p.Val287Ala, XP_011522848.1:p.Val38Ala, XP_011522839.1:p.Val287Ala, XP_016879857.1:p.Val287Ala, XP_016879854.1:p.Val287Ala, XP_047291591.1:p.Val287Ala, XP_047291588.1:p.Val287Ala, XP_047291594.1:p.Val287Ala, XP_047291592.1:p.Val286Ala, XP_047291605.1:p.Val287Ala, XP_047291604.1:p.Val287Ala, XP_047291606.1:p.Val123Ala, XP_047291600.1:p.Val287Ala, XP_047291603.1:p.Val287Ala, XP_047291599.1:p.Val287Ala, XP_047291595.1:p.Val287Ala, XP_047291590.1:p.Val287Ala, XP_047291602.1:p.Val287Ala, XP_047291589.1:p.Val287Ala, XP_047291596.1:p.Val287Ala, XP_047291601.1:p.Val287Ala, XP_047291597.1:p.Val287Ala, XP_047291593.1:p.Val287Ala, XP_047291598.1:p.Val287Ala, XP_047291609.1:p.Val287Ala, XP_047291611.1:p.Val287Ala, XP_047291610.1:p.Val287Ala, XP_047291607.1:p.Val287Ala, XP_047291608.1:p.Val287Ala

                                        20.

                                        rs1449785808 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          17:68395193 (GRCh38)
                                          17:66391334 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:68395192:G:C
                                          Gene:
                                          ARSG (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000017.11:g.68395193G>C, NC_000017.10:g.66391334G>C, NG_032814.2:g.141105G>C, NM_014960.5:c.1212G>C, NM_014960.4:c.1212G>C, NM_001352903.2:c.1209G>C, NM_001352903.1:c.1209G>C, NM_001352900.2:c.1212G>C, NM_001352900.1:c.1212G>C, NM_001352901.2:c.1212G>C, NM_001352901.1:c.1212G>C, NM_001352907.2:c.1209G>C, NM_001352907.1:c.1209G>C, NM_001352910.2:c.1212G>C, NM_001352910.1:c.1212G>C, NM_001352902.2:c.1212G>C, NM_001352902.1:c.1212G>C, NM_001352904.2:c.1209G>C, NM_001352904.1:c.1209G>C, NM_001352905.2:c.1209G>C, NM_001352905.1:c.1209G>C, NM_001352899.2:c.1212G>C, NM_001352899.1:c.1212G>C, NM_001352906.2:c.1209G>C, NM_001352906.1:c.1209G>C, NM_001352909.2:c.1164G>C, NM_001352909.1:c.1164G>C, NM_001267727.2:c.1212G>C, NM_001267727.1:c.1212G>C, XM_017024360.3:c.1212G>C, XM_017024360.2:c.1212G>C, XM_017024360.1:c.1212G>C, XM_011524536.3:c.1212G>C, XM_011524536.2:c.1212G>C, XM_011524536.1:c.1212G>C, XM_011524546.3:c.465G>C, XM_011524546.2:c.465G>C, XM_011524546.1:c.465G>C, XM_011524537.2:c.1212G>C, XM_011524537.1:c.1212G>C, XM_017024365.2:c.1212G>C, XM_017024365.1:c.1212G>C, XM_047435635.1:c.1212G>C, XM_047435632.1:c.1212G>C, XM_047435638.1:c.1212G>C, XM_047435636.1:c.1209G>C, XM_047435650.1:c.720G>C, XM_047435644.1:c.1212G>C, XM_047435639.1:c.1212G>C, XM_047435634.1:c.1212G>C, XM_047435646.1:c.1212G>C, XM_047435633.1:c.1212G>C, XM_047435640.1:c.1212G>C, XM_047435645.1:c.1212G>C, XM_047435641.1:c.1212G>C, XM_047435637.1:c.1212G>C, NP_055775.2:p.Arg404Ser, NP_001339832.1:p.Arg403Ser, NP_001339829.1:p.Arg404Ser, NP_001339830.1:p.Arg404Ser, NP_001339836.1:p.Arg403Ser, NP_001339839.1:p.Arg404Ser, NP_001339831.1:p.Arg404Ser, NP_001339833.1:p.Arg403Ser, NP_001339834.1:p.Arg403Ser, NP_001339828.1:p.Arg404Ser, NP_001339835.1:p.Arg403Ser, NP_001339838.1:p.Arg388Ser, NP_001254656.1:p.Arg404Ser, XP_016879849.1:p.Arg404Ser, XP_011522838.1:p.Arg404Ser, XP_011522848.1:p.Arg155Ser, XP_011522839.1:p.Arg404Ser, XP_016879854.1:p.Arg404Ser, XP_047291591.1:p.Arg404Ser, XP_047291588.1:p.Arg404Ser, XP_047291594.1:p.Arg404Ser, XP_047291592.1:p.Arg403Ser, XP_047291606.1:p.Arg240Ser, XP_047291600.1:p.Arg404Ser, XP_047291595.1:p.Arg404Ser, XP_047291590.1:p.Arg404Ser, XP_047291602.1:p.Arg404Ser, XP_047291589.1:p.Arg404Ser, XP_047291596.1:p.Arg404Ser, XP_047291601.1:p.Arg404Ser, XP_047291597.1:p.Arg404Ser, XP_047291593.1:p.Arg404Ser

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