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Items: 1 to 20 of 622

1.

rs1483536890 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    5:96746407 (GRCh38)
    5:96082111 (GRCh37)
    Canonical SPDI:
    NC_000005.10:96746406:C:T
    Gene:
    CAST (Varview)
    Functional Consequence:
    synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000005.10:g.96746407C>T, NC_000005.9:g.96082111C>T, NG_029490.2:g.89371C>T, NM_001750.7:c.1266C>T, NM_001750.6:c.1266C>T, NM_001750.5:c.1266C>T, NM_001750.4:c.1017C>T, NM_001750.3:c.894C>T, NM_001750.2:c.186C>T, NM_001750.1:c.186C>T, NM_001042440.5:c.1143C>T, NM_001042440.4:c.1143C>T, NM_001042440.3:c.1143C>T, NM_001042440.2:c.1143C>T, NM_173060.5:c.951C>T, NM_173060.4:c.951C>T, NM_173060.3:c.951C>T, NM_001284212.4:c.894C>T, NM_001284212.3:c.894C>T, NM_001284212.2:c.894C>T, NM_001284212.1:c.894C>T, NM_001284213.4:c.801C>T, NM_001284213.3:c.801C>T, NM_001284213.2:c.801C>T, NM_001284213.1:c.801C>T, NM_001042441.3:c.1209C>T, NM_001042441.2:c.1209C>T, NM_001042441.1:c.1209C>T, NM_001042442.3:c.1200C>T, NM_001042442.2:c.1200C>T, NM_001042442.1:c.1200C>T, NM_001042443.3:c.1017C>T, NM_001042443.2:c.1017C>T, NM_001042443.1:c.1017C>T, NM_001042445.3:c.912C>T, NM_001042445.2:c.912C>T, NM_001042445.1:c.912C>T, NM_001042444.3:c.894C>T, NM_001042444.2:c.894C>T, NM_001042444.1:c.894C>T, NM_001042446.3:c.855C>T, NM_001042446.2:c.855C>T, NM_001042446.1:c.855C>T, NM_001330629.2:c.1182C>T, NM_001330629.1:c.1182C>T, NM_001190442.2:c.978C>T, NM_001190442.1:c.978C>T, NM_001330626.2:c.1170C>T, NM_001330626.1:c.1170C>T, NM_001330628.2:c.1098C>T, NM_001330628.1:c.1098C>T, NM_001330627.2:c.1143C>T, NM_001330627.1:c.1143C>T, NM_001330631.2:c.978C>T, NM_001330631.1:c.978C>T, NM_001330633.2:c.960C>T, NM_001330633.1:c.960C>T, NM_001330632.2:c.951C>T, NM_001330632.1:c.951C>T, NM_001330634.2:c.921C>T, NM_001330634.1:c.921C>T, NM_001330630.2:c.855C>T, NM_001330630.1:c.855C>T, NR_104285.2:n.211C>T, NR_104285.1:n.273C>T, NM_001375317.1:c.1155C>T, NM_173061.2:c.186C>T, NM_001329966.1:c.1200C>T, NM_173063.1:c.1161C>T, NM_173062.1:c.663C>T, NM_173061.1:c.186C>T, NR_033798.1:n.273C>T

    2.

    rs1482423556 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      5:96741300 (GRCh38)
      5:96077004 (GRCh37)
      Canonical SPDI:
      NC_000005.10:96741299:T:C
      Gene:
      CAST (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
      HGVS:
      NC_000005.10:g.96741300T>C, NC_000005.9:g.96077004T>C, NG_029490.2:g.84264T>C, NM_001750.7:c.953T>C, NM_001750.6:c.953T>C, NM_001750.5:c.953T>C, NM_001750.4:c.704T>C, NM_001750.3:c.581T>C, NM_001042440.5:c.830T>C, NM_001042440.4:c.830T>C, NM_001042440.3:c.830T>C, NM_001042440.2:c.830T>C, NM_173060.5:c.638T>C, NM_173060.4:c.638T>C, NM_173060.3:c.638T>C, NM_001284212.4:c.581T>C, NM_001284212.3:c.581T>C, NM_001284212.2:c.581T>C, NM_001284212.1:c.581T>C, NM_001284213.4:c.488T>C, NM_001284213.3:c.488T>C, NM_001284213.2:c.488T>C, NM_001284213.1:c.488T>C, NM_001042441.3:c.896T>C, NM_001042441.2:c.896T>C, NM_001042441.1:c.896T>C, NM_001042442.3:c.887T>C, NM_001042442.2:c.887T>C, NM_001042442.1:c.887T>C, NM_001042443.3:c.704T>C, NM_001042443.2:c.704T>C, NM_001042443.1:c.704T>C, NM_001042445.3:c.599T>C, NM_001042445.2:c.599T>C, NM_001042445.1:c.599T>C, NM_001042444.3:c.581T>C, NM_001042444.2:c.581T>C, NM_001042444.1:c.581T>C, NM_001042446.3:c.542T>C, NM_001042446.2:c.542T>C, NM_001042446.1:c.542T>C, NM_001330629.2:c.869T>C, NM_001330629.1:c.869T>C, NM_001190442.2:c.665T>C, NM_001190442.1:c.665T>C, NM_001330626.2:c.857T>C, NM_001330626.1:c.857T>C, NM_001330628.2:c.785T>C, NM_001330628.1:c.785T>C, NM_001330627.2:c.830T>C, NM_001330627.1:c.830T>C, NM_001330631.2:c.665T>C, NM_001330631.1:c.665T>C, NM_001330633.2:c.647T>C, NM_001330633.1:c.647T>C, NM_001330632.2:c.638T>C, NM_001330632.1:c.638T>C, NM_001330634.2:c.608T>C, NM_001330634.1:c.608T>C, NM_001330630.2:c.542T>C, NM_001330630.1:c.542T>C, NM_001375317.1:c.842T>C, NM_001329966.1:c.887T>C, NM_173063.1:c.848T>C, NM_173062.1:c.350T>C, NP_001741.4:p.Leu318Ser, NP_001035905.1:p.Leu277Ser, NP_775083.1:p.Leu213Ser, NP_001271141.1:p.Leu194Ser, NP_001271142.1:p.Leu163Ser, NP_001035906.1:p.Leu299Ser, NP_001035907.1:p.Leu296Ser, NP_001035908.1:p.Leu235Ser, NP_001035910.1:p.Leu200Ser, NP_001035909.1:p.Leu194Ser, NP_001035911.1:p.Leu181Ser, NP_001317558.1:p.Leu290Ser, NP_001177371.1:p.Leu222Ser, NP_001317555.1:p.Leu286Ser, NP_001317557.1:p.Leu262Ser, NP_001317556.1:p.Leu277Ser, NP_001317560.1:p.Leu222Ser, NP_001317562.1:p.Leu216Ser, NP_001317561.1:p.Leu213Ser, NP_001317563.1:p.Leu203Ser, NP_001317559.1:p.Leu181Ser, NP_001362246.1:p.Leu281Ser

      3.

      rs1480288301 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        5:96750679 (GRCh38)
        5:96086383 (GRCh37)
        Canonical SPDI:
        NC_000005.10:96750678:C:G
        Gene:
        CAST (Varview)
        Functional Consequence:
        non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
        HGVS:
        NC_000005.10:g.96750679C>G, NC_000005.9:g.96086383C>G, NG_029490.2:g.93643C>G, NM_001750.7:c.1521C>G, NM_001750.6:c.1521C>G, NM_001750.5:c.1521C>G, NM_001750.4:c.1272C>G, NM_001750.3:c.1149C>G, NM_001750.2:c.441C>G, NM_001750.1:c.441C>G, NM_001042440.5:c.1398C>G, NM_001042440.4:c.1398C>G, NM_001042440.3:c.1398C>G, NM_001042440.2:c.1398C>G, NM_173060.5:c.1206C>G, NM_173060.4:c.1206C>G, NM_173060.3:c.1206C>G, NM_001284212.4:c.1149C>G, NM_001284212.3:c.1149C>G, NM_001284212.2:c.1149C>G, NM_001284212.1:c.1149C>G, NM_001284213.4:c.1056C>G, NM_001284213.3:c.1056C>G, NM_001284213.2:c.1056C>G, NM_001284213.1:c.1056C>G, NM_001042441.3:c.1464C>G, NM_001042441.2:c.1464C>G, NM_001042441.1:c.1464C>G, NM_001042442.3:c.1455C>G, NM_001042442.2:c.1455C>G, NM_001042442.1:c.1455C>G, NM_001042443.3:c.1272C>G, NM_001042443.2:c.1272C>G, NM_001042443.1:c.1272C>G, NM_001042445.3:c.1167C>G, NM_001042445.2:c.1167C>G, NM_001042445.1:c.1167C>G, NM_001042444.3:c.1149C>G, NM_001042444.2:c.1149C>G, NM_001042444.1:c.1149C>G, NM_001042446.3:c.1110C>G, NM_001042446.2:c.1110C>G, NM_001042446.1:c.1110C>G, NM_001330629.2:c.1437C>G, NM_001330629.1:c.1437C>G, NM_001190442.2:c.1233C>G, NM_001190442.1:c.1233C>G, NM_001330626.2:c.1425C>G, NM_001330626.1:c.1425C>G, NM_001330628.2:c.1353C>G, NM_001330628.1:c.1353C>G, NM_001330627.2:c.1398C>G, NM_001330627.1:c.1398C>G, NM_001330631.2:c.1233C>G, NM_001330631.1:c.1233C>G, NM_001330633.2:c.1215C>G, NM_001330633.1:c.1215C>G, NM_001330632.2:c.1206C>G, NM_001330632.1:c.1206C>G, NM_001330634.2:c.1176C>G, NM_001330634.1:c.1176C>G, NM_001330630.2:c.1110C>G, NM_001330630.1:c.1110C>G, NR_104285.2:n.466C>G, NR_104285.1:n.528C>G, NM_001375317.1:c.1410C>G, NM_173061.2:c.441C>G, NM_001329966.1:c.1455C>G, NM_173063.1:c.1416C>G, NM_173062.1:c.918C>G, NM_173061.1:c.441C>G, NR_033798.1:n.528C>G

        4.

        rs1478587541 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          5:96722685 (GRCh38)
          5:96058389 (GRCh37)
          Canonical SPDI:
          NC_000005.10:96722684:C:T
          Gene:
          CAST (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000005.10:g.96722685C>T, NC_000005.9:g.96058389C>T, NG_029490.2:g.65649C>T, NM_001750.7:c.257C>T, NM_001750.6:c.257C>T, NM_001750.5:c.257C>T, NM_001750.4:c.8C>T, NM_001750.3:c.8C>T, NM_001042440.5:c.257C>T, NM_001042440.4:c.257C>T, NM_001042440.3:c.257C>T, NM_001042440.2:c.257C>T, NM_173060.5:c.8C>T, NM_173060.4:c.8C>T, NM_173060.3:c.8C>T, NM_001284212.4:c.8C>T, NM_001284212.3:c.8C>T, NM_001284212.2:c.8C>T, NM_001284212.1:c.8C>T, NM_001284213.4:c.8C>T, NM_001284213.3:c.8C>T, NM_001284213.2:c.8C>T, NM_001284213.1:c.8C>T, NM_001042441.3:c.257C>T, NM_001042441.2:c.257C>T, NM_001042441.1:c.257C>T, NM_001042442.3:c.257C>T, NM_001042442.2:c.257C>T, NM_001042442.1:c.257C>T, NM_001042443.3:c.8C>T, NM_001042443.2:c.8C>T, NM_001042443.1:c.8C>T, NM_001042445.3:c.8C>T, NM_001042445.2:c.8C>T, NM_001042445.1:c.8C>T, NM_001042444.3:c.8C>T, NM_001042444.2:c.8C>T, NM_001042444.1:c.8C>T, NM_001042446.3:c.8C>T, NM_001042446.2:c.8C>T, NM_001042446.1:c.8C>T, NM_001330629.2:c.212C>T, NM_001330629.1:c.212C>T, NM_001190442.2:c.8C>T, NM_001190442.1:c.8C>T, NM_001330626.2:c.257C>T, NM_001330626.1:c.257C>T, NM_001330628.2:c.212C>T, NM_001330628.1:c.212C>T, NM_001330627.2:c.257C>T, NM_001330627.1:c.257C>T, NM_001330631.2:c.8C>T, NM_001330631.1:c.8C>T, NM_001330633.2:c.8C>T, NM_001330633.1:c.8C>T, NM_001330632.2:c.8C>T, NM_001330632.1:c.8C>T, NM_001330634.2:c.8C>T, NM_001330634.1:c.8C>T, NM_001330630.2:c.8C>T, NM_001330630.1:c.8C>T, NM_001375317.1:c.212C>T, NM_001329966.1:c.257C>T, NM_173063.1:c.257C>T, NP_001741.4:p.Pro86Leu, NP_001035905.1:p.Pro86Leu, NP_775083.1:p.Pro3Leu, NP_001271141.1:p.Pro3Leu, NP_001271142.1:p.Pro3Leu, NP_001035906.1:p.Pro86Leu, NP_001035907.1:p.Pro86Leu, NP_001035908.1:p.Pro3Leu, NP_001035910.1:p.Pro3Leu, NP_001035909.1:p.Pro3Leu, NP_001035911.1:p.Pro3Leu, NP_001317558.1:p.Pro71Leu, NP_001177371.1:p.Pro3Leu, NP_001317555.1:p.Pro86Leu, NP_001317557.1:p.Pro71Leu, NP_001317556.1:p.Pro86Leu, NP_001317560.1:p.Pro3Leu, NP_001317562.1:p.Pro3Leu, NP_001317561.1:p.Pro3Leu, NP_001317563.1:p.Pro3Leu, NP_001317559.1:p.Pro3Leu, NP_001362246.1:p.Pro71Leu

          5.

          rs1477160295 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            5:96766141 (GRCh38)
            5:96101845 (GRCh37)
            Canonical SPDI:
            NC_000005.10:96766140:G:T
            Gene:
            CAST (Varview), ERAP1 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000005.10:g.96766141G>T, NC_000005.9:g.96101845G>T, NG_027839.2:g.174843C>A, NG_029490.2:g.109105G>T, NM_001750.7:c.2126G>T, NM_001750.6:c.2126G>T, NM_001750.5:c.2126G>T, NM_001750.4:c.1877G>T, NM_001750.3:c.1754G>T, NM_001750.2:c.1043G>T, NM_001750.1:c.1043G>T, NM_001042440.5:c.2003G>T, NM_001042440.4:c.2003G>T, NM_001042440.3:c.2003G>T, NM_001042440.2:c.2003G>T, NM_173060.5:c.1811G>T, NM_173060.4:c.1811G>T, NM_173060.3:c.1811G>T, NM_001284212.4:c.1751G>T, NM_001284212.3:c.1751G>T, NM_001284212.2:c.1751G>T, NM_001284212.1:c.1751G>T, NM_001284213.4:c.1661G>T, NM_001284213.3:c.1661G>T, NM_001284213.2:c.1661G>T, NM_001284213.1:c.1661G>T, NM_001042441.3:c.2069G>T, NM_001042441.2:c.2069G>T, NM_001042441.1:c.2069G>T, NM_001042442.3:c.2060G>T, NM_001042442.2:c.2060G>T, NM_001042442.1:c.2060G>T, NM_001042443.3:c.1877G>T, NM_001042443.2:c.1877G>T, NM_001042443.1:c.1877G>T, NM_001042445.3:c.1772G>T, NM_001042445.2:c.1772G>T, NM_001042445.1:c.1772G>T, NM_001042444.3:c.1754G>T, NM_001042444.2:c.1754G>T, NM_001042444.1:c.1754G>T, NM_001042446.3:c.1715G>T, NM_001042446.2:c.1715G>T, NM_001042446.1:c.1715G>T, NM_001330629.2:c.2042G>T, NM_001330629.1:c.2042G>T, NM_001190442.2:c.1838G>T, NM_001190442.1:c.1838G>T, NM_001330626.2:c.2030G>T, NM_001330626.1:c.2030G>T, NM_001330628.2:c.1958G>T, NM_001330628.1:c.1958G>T, NM_001330627.2:c.2000G>T, NM_001330627.1:c.2000G>T, NM_001330631.2:c.1838G>T, NM_001330631.1:c.1838G>T, NM_001330633.2:c.1820G>T, NM_001330633.1:c.1820G>T, NM_001330632.2:c.1808G>T, NM_001330632.1:c.1808G>T, NM_001330634.2:c.1781G>T, NM_001330634.1:c.1781G>T, NM_001330630.2:c.1712G>T, NM_001330630.1:c.1712G>T, NR_104285.2:n.1068G>T, NR_104285.1:n.1130G>T, NM_001375317.1:c.2015G>T, NM_173061.2:c.1043G>T, NM_001329966.1:c.2060G>T, NM_173063.1:c.2021G>T, NM_173062.1:c.1523G>T, NM_173061.1:c.1043G>T, NR_033798.1:n.1133G>T, NP_001741.4:p.Gly709Val, NP_001035905.1:p.Gly668Val, NP_775083.1:p.Gly604Val, NP_001271141.1:p.Gly584Val, NP_001271142.1:p.Gly554Val, NP_001035906.1:p.Gly690Val, NP_001035907.1:p.Gly687Val, NP_001035908.1:p.Gly626Val, NP_001035910.1:p.Gly591Val, NP_001035909.1:p.Gly585Val, NP_001035911.1:p.Gly572Val, NP_001317558.1:p.Gly681Val, NP_001177371.1:p.Gly613Val, NP_001317555.1:p.Gly677Val, NP_001317557.1:p.Gly653Val, NP_001317556.1:p.Gly667Val, NP_001317560.1:p.Gly613Val, NP_001317562.1:p.Gly607Val, NP_001317561.1:p.Gly603Val, NP_001317563.1:p.Gly594Val, NP_001317559.1:p.Gly571Val, NP_001362246.1:p.Gly672Val

            6.

            rs1475088387 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              5:96754079 (GRCh38)
              5:96089783 (GRCh37)
              Canonical SPDI:
              NC_000005.10:96754078:A:G
              Gene:
              CAST (Varview)
              Functional Consequence:
              non_coding_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              HGVS:
              NC_000005.10:g.96754079A>G, NC_000005.9:g.96089783A>G, NG_029490.2:g.97043A>G, NM_001750.7:c.1544A>G, NM_001750.6:c.1544A>G, NM_001750.5:c.1544A>G, NM_001750.4:c.1295A>G, NM_001750.3:c.1172A>G, NM_001750.2:c.464A>G, NM_001750.1:c.464A>G, NM_001042440.5:c.1421A>G, NM_001042440.4:c.1421A>G, NM_001042440.3:c.1421A>G, NM_001042440.2:c.1421A>G, NM_173060.5:c.1229A>G, NM_173060.4:c.1229A>G, NM_173060.3:c.1229A>G, NM_001284212.4:c.1172A>G, NM_001284212.3:c.1172A>G, NM_001284212.2:c.1172A>G, NM_001284212.1:c.1172A>G, NM_001284213.4:c.1079A>G, NM_001284213.3:c.1079A>G, NM_001284213.2:c.1079A>G, NM_001284213.1:c.1079A>G, NM_001042441.3:c.1487A>G, NM_001042441.2:c.1487A>G, NM_001042441.1:c.1487A>G, NM_001042442.3:c.1478A>G, NM_001042442.2:c.1478A>G, NM_001042442.1:c.1478A>G, NM_001042443.3:c.1295A>G, NM_001042443.2:c.1295A>G, NM_001042443.1:c.1295A>G, NM_001042445.3:c.1190A>G, NM_001042445.2:c.1190A>G, NM_001042445.1:c.1190A>G, NM_001042444.3:c.1172A>G, NM_001042444.2:c.1172A>G, NM_001042444.1:c.1172A>G, NM_001042446.3:c.1133A>G, NM_001042446.2:c.1133A>G, NM_001042446.1:c.1133A>G, NM_001330629.2:c.1460A>G, NM_001330629.1:c.1460A>G, NM_001190442.2:c.1256A>G, NM_001190442.1:c.1256A>G, NM_001330626.2:c.1448A>G, NM_001330626.1:c.1448A>G, NM_001330628.2:c.1376A>G, NM_001330628.1:c.1376A>G, NM_001330627.2:c.1421A>G, NM_001330627.1:c.1421A>G, NM_001330631.2:c.1256A>G, NM_001330631.1:c.1256A>G, NM_001330633.2:c.1238A>G, NM_001330633.1:c.1238A>G, NM_001330632.2:c.1229A>G, NM_001330632.1:c.1229A>G, NM_001330634.2:c.1199A>G, NM_001330634.1:c.1199A>G, NM_001330630.2:c.1133A>G, NM_001330630.1:c.1133A>G, NR_104285.2:n.489A>G, NR_104285.1:n.551A>G, NM_001375317.1:c.1433A>G, NM_173061.2:c.464A>G, NM_001329966.1:c.1478A>G, NM_173063.1:c.1439A>G, NM_173062.1:c.941A>G, NM_173061.1:c.464A>G, NR_033798.1:n.551A>G, NP_001741.4:p.Asp515Gly, NP_001035905.1:p.Asp474Gly, NP_775083.1:p.Asp410Gly, NP_001271141.1:p.Asp391Gly, NP_001271142.1:p.Asp360Gly, NP_001035906.1:p.Asp496Gly, NP_001035907.1:p.Asp493Gly, NP_001035908.1:p.Asp432Gly, NP_001035910.1:p.Asp397Gly, NP_001035909.1:p.Asp391Gly, NP_001035911.1:p.Asp378Gly, NP_001317558.1:p.Asp487Gly, NP_001177371.1:p.Asp419Gly, NP_001317555.1:p.Asp483Gly, NP_001317557.1:p.Asp459Gly, NP_001317556.1:p.Asp474Gly, NP_001317560.1:p.Asp419Gly, NP_001317562.1:p.Asp413Gly, NP_001317561.1:p.Asp410Gly, NP_001317563.1:p.Asp400Gly, NP_001317559.1:p.Asp378Gly, NP_001362246.1:p.Asp478Gly

              7.

              rs1468016299 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                5:96748602 (GRCh38)
                5:96084306 (GRCh37)
                Canonical SPDI:
                NC_000005.10:96748601:G:A
                Gene:
                CAST (Varview)
                Functional Consequence:
                missense_variant,non_coding_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000005.10:g.96748602G>A, NC_000005.9:g.96084306G>A, NG_029490.2:g.91566G>A, NM_001750.7:c.1417G>A, NM_001750.6:c.1417G>A, NM_001750.5:c.1417G>A, NM_001750.4:c.1168G>A, NM_001750.3:c.1045G>A, NM_001750.2:c.337G>A, NM_001750.1:c.337G>A, NM_001042440.5:c.1294G>A, NM_001042440.4:c.1294G>A, NM_001042440.3:c.1294G>A, NM_001042440.2:c.1294G>A, NM_173060.5:c.1102G>A, NM_173060.4:c.1102G>A, NM_173060.3:c.1102G>A, NM_001284212.4:c.1045G>A, NM_001284212.3:c.1045G>A, NM_001284212.2:c.1045G>A, NM_001284212.1:c.1045G>A, NM_001284213.4:c.952G>A, NM_001284213.3:c.952G>A, NM_001284213.2:c.952G>A, NM_001284213.1:c.952G>A, NM_001042441.3:c.1360G>A, NM_001042441.2:c.1360G>A, NM_001042441.1:c.1360G>A, NM_001042442.3:c.1351G>A, NM_001042442.2:c.1351G>A, NM_001042442.1:c.1351G>A, NM_001042443.3:c.1168G>A, NM_001042443.2:c.1168G>A, NM_001042443.1:c.1168G>A, NM_001042445.3:c.1063G>A, NM_001042445.2:c.1063G>A, NM_001042445.1:c.1063G>A, NM_001042444.3:c.1045G>A, NM_001042444.2:c.1045G>A, NM_001042444.1:c.1045G>A, NM_001042446.3:c.1006G>A, NM_001042446.2:c.1006G>A, NM_001042446.1:c.1006G>A, NM_001330629.2:c.1333G>A, NM_001330629.1:c.1333G>A, NM_001190442.2:c.1129G>A, NM_001190442.1:c.1129G>A, NM_001330626.2:c.1321G>A, NM_001330626.1:c.1321G>A, NM_001330628.2:c.1249G>A, NM_001330628.1:c.1249G>A, NM_001330627.2:c.1294G>A, NM_001330627.1:c.1294G>A, NM_001330631.2:c.1129G>A, NM_001330631.1:c.1129G>A, NM_001330633.2:c.1111G>A, NM_001330633.1:c.1111G>A, NM_001330632.2:c.1102G>A, NM_001330632.1:c.1102G>A, NM_001330634.2:c.1072G>A, NM_001330634.1:c.1072G>A, NM_001330630.2:c.1006G>A, NM_001330630.1:c.1006G>A, NR_104285.2:n.362G>A, NR_104285.1:n.424G>A, NM_001375317.1:c.1306G>A, NM_173061.2:c.337G>A, NM_001329966.1:c.1351G>A, NM_173063.1:c.1312G>A, NM_173062.1:c.814G>A, NM_173061.1:c.337G>A, NR_033798.1:n.424G>A, NP_001741.4:p.Glu473Lys, NP_001035905.1:p.Glu432Lys, NP_775083.1:p.Glu368Lys, NP_001271141.1:p.Glu349Lys, NP_001271142.1:p.Glu318Lys, NP_001035906.1:p.Glu454Lys, NP_001035907.1:p.Glu451Lys, NP_001035908.1:p.Glu390Lys, NP_001035910.1:p.Glu355Lys, NP_001035909.1:p.Glu349Lys, NP_001035911.1:p.Glu336Lys, NP_001317558.1:p.Glu445Lys, NP_001177371.1:p.Glu377Lys, NP_001317555.1:p.Glu441Lys, NP_001317557.1:p.Glu417Lys, NP_001317556.1:p.Glu432Lys, NP_001317560.1:p.Glu377Lys, NP_001317562.1:p.Glu371Lys, NP_001317561.1:p.Glu368Lys, NP_001317563.1:p.Glu358Lys, NP_001317559.1:p.Glu336Lys, NP_001362246.1:p.Glu436Lys

                8.

                rs1464701479 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  5:96754063 (GRCh38)
                  5:96089767 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:96754062:G:C
                  Gene:
                  CAST (Varview)
                  Functional Consequence:
                  missense_variant,non_coding_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000005.10:g.96754063G>C, NC_000005.9:g.96089767G>C, NG_029490.2:g.97027G>C, NM_001750.7:c.1528G>C, NM_001750.6:c.1528G>C, NM_001750.5:c.1528G>C, NM_001750.4:c.1279G>C, NM_001750.3:c.1156G>C, NM_001750.2:c.448G>C, NM_001750.1:c.448G>C, NM_001042440.5:c.1405G>C, NM_001042440.4:c.1405G>C, NM_001042440.3:c.1405G>C, NM_001042440.2:c.1405G>C, NM_173060.5:c.1213G>C, NM_173060.4:c.1213G>C, NM_173060.3:c.1213G>C, NM_001284212.4:c.1156G>C, NM_001284212.3:c.1156G>C, NM_001284212.2:c.1156G>C, NM_001284212.1:c.1156G>C, NM_001284213.4:c.1063G>C, NM_001284213.3:c.1063G>C, NM_001284213.2:c.1063G>C, NM_001284213.1:c.1063G>C, NM_001042441.3:c.1471G>C, NM_001042441.2:c.1471G>C, NM_001042441.1:c.1471G>C, NM_001042442.3:c.1462G>C, NM_001042442.2:c.1462G>C, NM_001042442.1:c.1462G>C, NM_001042443.3:c.1279G>C, NM_001042443.2:c.1279G>C, NM_001042443.1:c.1279G>C, NM_001042445.3:c.1174G>C, NM_001042445.2:c.1174G>C, NM_001042445.1:c.1174G>C, NM_001042444.3:c.1156G>C, NM_001042444.2:c.1156G>C, NM_001042444.1:c.1156G>C, NM_001042446.3:c.1117G>C, NM_001042446.2:c.1117G>C, NM_001042446.1:c.1117G>C, NM_001330629.2:c.1444G>C, NM_001330629.1:c.1444G>C, NM_001190442.2:c.1240G>C, NM_001190442.1:c.1240G>C, NM_001330626.2:c.1432G>C, NM_001330626.1:c.1432G>C, NM_001330628.2:c.1360G>C, NM_001330628.1:c.1360G>C, NM_001330627.2:c.1405G>C, NM_001330627.1:c.1405G>C, NM_001330631.2:c.1240G>C, NM_001330631.1:c.1240G>C, NM_001330633.2:c.1222G>C, NM_001330633.1:c.1222G>C, NM_001330632.2:c.1213G>C, NM_001330632.1:c.1213G>C, NM_001330634.2:c.1183G>C, NM_001330634.1:c.1183G>C, NM_001330630.2:c.1117G>C, NM_001330630.1:c.1117G>C, NR_104285.2:n.473G>C, NR_104285.1:n.535G>C, NM_001375317.1:c.1417G>C, NM_173061.2:c.448G>C, NM_001329966.1:c.1462G>C, NM_173063.1:c.1423G>C, NM_173062.1:c.925G>C, NM_173061.1:c.448G>C, NR_033798.1:n.535G>C, NP_001741.4:p.Gly510Arg, NP_001035905.1:p.Gly469Arg, NP_775083.1:p.Gly405Arg, NP_001271141.1:p.Gly386Arg, NP_001271142.1:p.Gly355Arg, NP_001035906.1:p.Gly491Arg, NP_001035907.1:p.Gly488Arg, NP_001035908.1:p.Gly427Arg, NP_001035910.1:p.Gly392Arg, NP_001035909.1:p.Gly386Arg, NP_001035911.1:p.Gly373Arg, NP_001317558.1:p.Gly482Arg, NP_001177371.1:p.Gly414Arg, NP_001317555.1:p.Gly478Arg, NP_001317557.1:p.Gly454Arg, NP_001317556.1:p.Gly469Arg, NP_001317560.1:p.Gly414Arg, NP_001317562.1:p.Gly408Arg, NP_001317561.1:p.Gly405Arg, NP_001317563.1:p.Gly395Arg, NP_001317559.1:p.Gly373Arg, NP_001362246.1:p.Gly473Arg

                  9.

                  rs1458652329 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    5:96730835 (GRCh38)
                    5:96066539 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:96730834:C:A
                    Gene:
                    CAST (Varview)
                    Functional Consequence:
                    missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000005.10:g.96730835C>A, NC_000005.9:g.96066539C>A, NG_029490.2:g.73799C>A, NM_001750.7:c.605C>A, NM_001750.6:c.605C>A, NM_001750.5:c.605C>A, NM_001750.4:c.356C>A, NM_001750.3:c.233C>A, NM_001042440.5:c.482C>A, NM_001042440.4:c.482C>A, NM_001042440.3:c.482C>A, NM_001042440.2:c.482C>A, NM_173060.5:c.290C>A, NM_173060.4:c.290C>A, NM_173060.3:c.290C>A, NM_001284212.4:c.233C>A, NM_001284212.3:c.233C>A, NM_001284212.2:c.233C>A, NM_001284212.1:c.233C>A, NM_001042441.3:c.548C>A, NM_001042441.2:c.548C>A, NM_001042441.1:c.548C>A, NM_001042442.3:c.539C>A, NM_001042442.2:c.539C>A, NM_001042442.1:c.539C>A, NM_001042443.3:c.356C>A, NM_001042443.2:c.356C>A, NM_001042443.1:c.356C>A, NM_001042445.3:c.290C>A, NM_001042445.2:c.290C>A, NM_001042445.1:c.290C>A, NM_001042444.3:c.233C>A, NM_001042444.2:c.233C>A, NM_001042444.1:c.233C>A, NM_001042446.3:c.233C>A, NM_001042446.2:c.233C>A, NM_001042446.1:c.233C>A, NM_001330629.2:c.560C>A, NM_001330629.1:c.560C>A, NM_001190442.2:c.356C>A, NM_001190442.1:c.356C>A, NM_001330626.2:c.548C>A, NM_001330626.1:c.548C>A, NM_001330628.2:c.437C>A, NM_001330628.1:c.437C>A, NM_001330627.2:c.482C>A, NM_001330627.1:c.482C>A, NM_001330631.2:c.356C>A, NM_001330631.1:c.356C>A, NM_001330633.2:c.299C>A, NM_001330633.1:c.299C>A, NM_001330632.2:c.290C>A, NM_001330632.1:c.290C>A, NM_001330634.2:c.299C>A, NM_001330634.1:c.299C>A, NM_001330630.2:c.233C>A, NM_001330630.1:c.233C>A, NM_001375317.1:c.494C>A, NM_001329966.1:c.539C>A, NM_173063.1:c.539C>A, NM_173062.1:c.41C>A, NP_001741.4:p.Ala202Glu, NP_001035905.1:p.Ala161Glu, NP_775083.1:p.Ala97Glu, NP_001271141.1:p.Ala78Glu, NP_001035906.1:p.Ala183Glu, NP_001035907.1:p.Ala180Glu, NP_001035908.1:p.Ala119Glu, NP_001035910.1:p.Ala97Glu, NP_001035909.1:p.Ala78Glu, NP_001035911.1:p.Ala78Glu, NP_001317558.1:p.Ala187Glu, NP_001177371.1:p.Ala119Glu, NP_001317555.1:p.Ala183Glu, NP_001317557.1:p.Ala146Glu, NP_001317556.1:p.Ala161Glu, NP_001317560.1:p.Ala119Glu, NP_001317562.1:p.Ala100Glu, NP_001317561.1:p.Ala97Glu, NP_001317563.1:p.Ala100Glu, NP_001317559.1:p.Ala78Glu, NP_001362246.1:p.Ala165Glu

                    10.

                    rs1457781678 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      5:96729617 (GRCh38)
                      5:96065321 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:96729616:A:G
                      Gene:
                      CAST (Varview)
                      Functional Consequence:
                      synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000005.10:g.96729617A>G, NC_000005.9:g.96065321A>G, NG_029490.2:g.72581A>G, NM_001750.7:c.441A>G, NM_001750.6:c.441A>G, NM_001750.5:c.441A>G, NM_001750.4:c.192A>G, NM_001750.3:c.69A>G, NM_001042440.5:c.318A>G, NM_001042440.4:c.318A>G, NM_001042440.3:c.318A>G, NM_001042440.2:c.318A>G, NM_173060.5:c.126A>G, NM_173060.4:c.126A>G, NM_173060.3:c.126A>G, NM_001284212.4:c.69A>G, NM_001284212.3:c.69A>G, NM_001284212.2:c.69A>G, NM_001284212.1:c.69A>G, NM_001284213.4:c.126A>G, NM_001284213.3:c.126A>G, NM_001284213.2:c.126A>G, NM_001284213.1:c.126A>G, NM_001042441.3:c.384A>G, NM_001042441.2:c.384A>G, NM_001042441.1:c.384A>G, NM_001042442.3:c.375A>G, NM_001042442.2:c.375A>G, NM_001042442.1:c.375A>G, NM_001042443.3:c.192A>G, NM_001042443.2:c.192A>G, NM_001042443.1:c.192A>G, NM_001042445.3:c.126A>G, NM_001042445.2:c.126A>G, NM_001042445.1:c.126A>G, NM_001042444.3:c.69A>G, NM_001042444.2:c.69A>G, NM_001042444.1:c.69A>G, NM_001042446.3:c.69A>G, NM_001042446.2:c.69A>G, NM_001042446.1:c.69A>G, NM_001330629.2:c.396A>G, NM_001330629.1:c.396A>G, NM_001190442.2:c.192A>G, NM_001190442.1:c.192A>G, NM_001330626.2:c.384A>G, NM_001330626.1:c.384A>G, NM_001330628.2:c.273A>G, NM_001330628.1:c.273A>G, NM_001330627.2:c.318A>G, NM_001330627.1:c.318A>G, NM_001330631.2:c.192A>G, NM_001330631.1:c.192A>G, NM_001330633.2:c.135A>G, NM_001330633.1:c.135A>G, NM_001330632.2:c.126A>G, NM_001330632.1:c.126A>G, NM_001330634.2:c.135A>G, NM_001330634.1:c.135A>G, NM_001330630.2:c.69A>G, NM_001330630.1:c.69A>G, NM_001375317.1:c.330A>G, NM_001329966.1:c.375A>G, NM_173063.1:c.375A>G, NM_173062.1:c.-124A>G

                      11.

                      rs1457527181 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        5:96770595 (GRCh38)
                        5:96106299 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:96770594:C:T
                        Gene:
                        CAST (Varview), ERAP1 (Varview)
                        Functional Consequence:
                        missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
                        HGVS:
                        NC_000005.10:g.96770595C>T, NC_000005.9:g.96106299C>T, NG_027839.2:g.170389G>A, NG_029490.2:g.113559C>T, NM_001750.7:c.2333C>T, NM_001750.6:c.2333C>T, NM_001750.5:c.2333C>T, NM_001750.4:c.2084C>T, NM_001750.3:c.1961C>T, NM_001750.2:c.1250C>T, NM_001750.1:c.1250C>T, NM_001042440.5:c.2210C>T, NM_001042440.4:c.2210C>T, NM_001042440.3:c.2210C>T, NM_001042440.2:c.2210C>T, NM_173060.5:c.2018C>T, NM_173060.4:c.2018C>T, NM_173060.3:c.2018C>T, NM_001284212.4:c.1958C>T, NM_001284212.3:c.1958C>T, NM_001284212.2:c.1958C>T, NM_001284212.1:c.1958C>T, NM_001284213.4:c.1868C>T, NM_001284213.3:c.1868C>T, NM_001284213.2:c.1868C>T, NM_001284213.1:c.1868C>T, NM_001042441.3:c.2276C>T, NM_001042441.2:c.2276C>T, NM_001042441.1:c.2276C>T, NM_001042442.3:c.2267C>T, NM_001042442.2:c.2267C>T, NM_001042442.1:c.2267C>T, NM_001042443.3:c.2084C>T, NM_001042443.2:c.2084C>T, NM_001042443.1:c.2084C>T, NM_001042445.3:c.1979C>T, NM_001042445.2:c.1979C>T, NM_001042445.1:c.1979C>T, NM_001042444.3:c.1961C>T, NM_001042444.2:c.1961C>T, NM_001042444.1:c.1961C>T, NM_001042446.3:c.1922C>T, NM_001042446.2:c.1922C>T, NM_001042446.1:c.1922C>T, NM_001330629.2:c.2249C>T, NM_001330629.1:c.2249C>T, NM_001190442.2:c.2045C>T, NM_001190442.1:c.2045C>T, NM_001330626.2:c.2237C>T, NM_001330626.1:c.2237C>T, NM_001330628.2:c.2165C>T, NM_001330628.1:c.2165C>T, NM_001330627.2:c.2207C>T, NM_001330627.1:c.2207C>T, NM_001330631.2:c.2045C>T, NM_001330631.1:c.2045C>T, NM_001330633.2:c.2027C>T, NM_001330633.1:c.2027C>T, NM_001330632.2:c.2015C>T, NM_001330632.1:c.2015C>T, NM_001330634.2:c.1988C>T, NM_001330634.1:c.1988C>T, NM_001330630.2:c.1919C>T, NM_001330630.1:c.1919C>T, NR_104285.2:n.1275C>T, NR_104285.1:n.1337C>T, NM_001375317.1:c.2222C>T, NM_173061.2:c.1250C>T, NM_001329966.1:c.2267C>T, NM_173063.1:c.2228C>T, NM_173062.1:c.1730C>T, NM_173061.1:c.1250C>T, NR_033798.1:n.1340C>T, NP_001741.4:p.Ser778Leu, NP_001035905.1:p.Ser737Leu, NP_775083.1:p.Ser673Leu, NP_001271141.1:p.Ser653Leu, NP_001271142.1:p.Ser623Leu, NP_001035906.1:p.Ser759Leu, NP_001035907.1:p.Ser756Leu, NP_001035908.1:p.Ser695Leu, NP_001035910.1:p.Ser660Leu, NP_001035909.1:p.Ser654Leu, NP_001035911.1:p.Ser641Leu, NP_001317558.1:p.Ser750Leu, NP_001177371.1:p.Ser682Leu, NP_001317555.1:p.Ser746Leu, NP_001317557.1:p.Ser722Leu, NP_001317556.1:p.Ser736Leu, NP_001317560.1:p.Ser682Leu, NP_001317562.1:p.Ser676Leu, NP_001317561.1:p.Ser672Leu, NP_001317563.1:p.Ser663Leu, NP_001317559.1:p.Ser640Leu, NP_001362246.1:p.Ser741Leu

                        12.

                        rs1457319283 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          5:96754153 (GRCh38)
                          5:96089857 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:96754152:A:C
                          Gene:
                          CAST (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000005.10:g.96754153A>C, NC_000005.9:g.96089857A>C, NG_029490.2:g.97117A>C, NM_001750.7:c.1618A>C, NM_001750.6:c.1618A>C, NM_001750.5:c.1618A>C, NM_001750.4:c.1369A>C, NM_001750.3:c.1246A>C, NM_001750.2:c.538A>C, NM_001750.1:c.538A>C, NM_001042440.5:c.1495A>C, NM_001042440.4:c.1495A>C, NM_001042440.3:c.1495A>C, NM_001042440.2:c.1495A>C, NM_173060.5:c.1303A>C, NM_173060.4:c.1303A>C, NM_173060.3:c.1303A>C, NM_001284212.4:c.1246A>C, NM_001284212.3:c.1246A>C, NM_001284212.2:c.1246A>C, NM_001284212.1:c.1246A>C, NM_001284213.4:c.1153A>C, NM_001284213.3:c.1153A>C, NM_001284213.2:c.1153A>C, NM_001284213.1:c.1153A>C, NM_001042441.3:c.1561A>C, NM_001042441.2:c.1561A>C, NM_001042441.1:c.1561A>C, NM_001042442.3:c.1552A>C, NM_001042442.2:c.1552A>C, NM_001042442.1:c.1552A>C, NM_001042443.3:c.1369A>C, NM_001042443.2:c.1369A>C, NM_001042443.1:c.1369A>C, NM_001042445.3:c.1264A>C, NM_001042445.2:c.1264A>C, NM_001042445.1:c.1264A>C, NM_001042444.3:c.1246A>C, NM_001042444.2:c.1246A>C, NM_001042444.1:c.1246A>C, NM_001042446.3:c.1207A>C, NM_001042446.2:c.1207A>C, NM_001042446.1:c.1207A>C, NM_001330629.2:c.1534A>C, NM_001330629.1:c.1534A>C, NM_001190442.2:c.1330A>C, NM_001190442.1:c.1330A>C, NM_001330626.2:c.1522A>C, NM_001330626.1:c.1522A>C, NM_001330628.2:c.1450A>C, NM_001330628.1:c.1450A>C, NM_001330627.2:c.1495A>C, NM_001330627.1:c.1495A>C, NM_001330631.2:c.1330A>C, NM_001330631.1:c.1330A>C, NM_001330633.2:c.1312A>C, NM_001330633.1:c.1312A>C, NM_001330632.2:c.1303A>C, NM_001330632.1:c.1303A>C, NM_001330634.2:c.1273A>C, NM_001330634.1:c.1273A>C, NM_001330630.2:c.1207A>C, NM_001330630.1:c.1207A>C, NR_104285.2:n.563A>C, NR_104285.1:n.625A>C, NM_001375317.1:c.1507A>C, NM_173061.2:c.538A>C, NM_001329966.1:c.1552A>C, NM_173063.1:c.1513A>C, NM_173062.1:c.1015A>C, NM_173061.1:c.538A>C, NR_033798.1:n.625A>C, NP_001741.4:p.Lys540Gln, NP_001035905.1:p.Lys499Gln, NP_775083.1:p.Lys435Gln, NP_001271141.1:p.Lys416Gln, NP_001271142.1:p.Lys385Gln, NP_001035906.1:p.Lys521Gln, NP_001035907.1:p.Lys518Gln, NP_001035908.1:p.Lys457Gln, NP_001035910.1:p.Lys422Gln, NP_001035909.1:p.Lys416Gln, NP_001035911.1:p.Lys403Gln, NP_001317558.1:p.Lys512Gln, NP_001177371.1:p.Lys444Gln, NP_001317555.1:p.Lys508Gln, NP_001317557.1:p.Lys484Gln, NP_001317556.1:p.Lys499Gln, NP_001317560.1:p.Lys444Gln, NP_001317562.1:p.Lys438Gln, NP_001317561.1:p.Lys435Gln, NP_001317563.1:p.Lys425Gln, NP_001317559.1:p.Lys403Gln, NP_001362246.1:p.Lys503Gln

                          13.

                          rs1454975494 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            5:96730792 (GRCh38)
                            5:96066496 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:96730791:G:A
                            Gene:
                            CAST (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000005.10:g.96730792G>A, NC_000005.9:g.96066496G>A, NG_029490.2:g.73756G>A, NM_001750.7:c.562G>A, NM_001750.6:c.562G>A, NM_001750.5:c.562G>A, NM_001750.4:c.313G>A, NM_001750.3:c.190G>A, NM_001042440.5:c.439G>A, NM_001042440.4:c.439G>A, NM_001042440.3:c.439G>A, NM_001042440.2:c.439G>A, NM_173060.5:c.247G>A, NM_173060.4:c.247G>A, NM_173060.3:c.247G>A, NM_001284212.4:c.190G>A, NM_001284212.3:c.190G>A, NM_001284212.2:c.190G>A, NM_001284212.1:c.190G>A, NM_001042441.3:c.505G>A, NM_001042441.2:c.505G>A, NM_001042441.1:c.505G>A, NM_001042442.3:c.496G>A, NM_001042442.2:c.496G>A, NM_001042442.1:c.496G>A, NM_001042443.3:c.313G>A, NM_001042443.2:c.313G>A, NM_001042443.1:c.313G>A, NM_001042445.3:c.247G>A, NM_001042445.2:c.247G>A, NM_001042445.1:c.247G>A, NM_001042444.3:c.190G>A, NM_001042444.2:c.190G>A, NM_001042444.1:c.190G>A, NM_001042446.3:c.190G>A, NM_001042446.2:c.190G>A, NM_001042446.1:c.190G>A, NM_001330629.2:c.517G>A, NM_001330629.1:c.517G>A, NM_001190442.2:c.313G>A, NM_001190442.1:c.313G>A, NM_001330626.2:c.505G>A, NM_001330626.1:c.505G>A, NM_001330628.2:c.394G>A, NM_001330628.1:c.394G>A, NM_001330627.2:c.439G>A, NM_001330627.1:c.439G>A, NM_001330631.2:c.313G>A, NM_001330631.1:c.313G>A, NM_001330633.2:c.256G>A, NM_001330633.1:c.256G>A, NM_001330632.2:c.247G>A, NM_001330632.1:c.247G>A, NM_001330634.2:c.256G>A, NM_001330634.1:c.256G>A, NM_001330630.2:c.190G>A, NM_001330630.1:c.190G>A, NM_001375317.1:c.451G>A, NM_001329966.1:c.496G>A, NM_173063.1:c.496G>A, NM_173062.1:c.-3G>A, NP_001741.4:p.Asp188Asn, NP_001035905.1:p.Asp147Asn, NP_775083.1:p.Asp83Asn, NP_001271141.1:p.Asp64Asn, NP_001035906.1:p.Asp169Asn, NP_001035907.1:p.Asp166Asn, NP_001035908.1:p.Asp105Asn, NP_001035910.1:p.Asp83Asn, NP_001035909.1:p.Asp64Asn, NP_001035911.1:p.Asp64Asn, NP_001317558.1:p.Asp173Asn, NP_001177371.1:p.Asp105Asn, NP_001317555.1:p.Asp169Asn, NP_001317557.1:p.Asp132Asn, NP_001317556.1:p.Asp147Asn, NP_001317560.1:p.Asp105Asn, NP_001317562.1:p.Asp86Asn, NP_001317561.1:p.Asp83Asn, NP_001317563.1:p.Asp86Asn, NP_001317559.1:p.Asp64Asn, NP_001362246.1:p.Asp151Asn

                            14.

                            rs1454557927 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              5:96737862 (GRCh38)
                              5:96073566 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:96737861:C:T
                              Gene:
                              CAST (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000005.10:g.96737862C>T, NC_000005.9:g.96073566C>T, NG_029490.2:g.80826C>T, NM_001750.7:c.713C>T, NM_001750.6:c.713C>T, NM_001750.5:c.713C>T, NM_001750.4:c.464C>T, NM_001750.3:c.341C>T, NM_001042440.5:c.590C>T, NM_001042440.4:c.590C>T, NM_001042440.3:c.590C>T, NM_001042440.2:c.590C>T, NM_173060.5:c.398C>T, NM_173060.4:c.398C>T, NM_173060.3:c.398C>T, NM_001284212.4:c.341C>T, NM_001284212.3:c.341C>T, NM_001284212.2:c.341C>T, NM_001284212.1:c.341C>T, NM_001284213.4:c.248C>T, NM_001284213.3:c.248C>T, NM_001284213.2:c.248C>T, NM_001284213.1:c.248C>T, NM_001042441.3:c.656C>T, NM_001042441.2:c.656C>T, NM_001042441.1:c.656C>T, NM_001042442.3:c.647C>T, NM_001042442.2:c.647C>T, NM_001042442.1:c.647C>T, NM_001042443.3:c.464C>T, NM_001042443.2:c.464C>T, NM_001042443.1:c.464C>T, NM_001042445.3:c.398C>T, NM_001042445.2:c.398C>T, NM_001042445.1:c.398C>T, NM_001042444.3:c.341C>T, NM_001042444.2:c.341C>T, NM_001042444.1:c.341C>T, NM_001042446.3:c.341C>T, NM_001042446.2:c.341C>T, NM_001042446.1:c.341C>T, NM_001330629.2:c.668C>T, NM_001330629.1:c.668C>T, NM_001190442.2:c.464C>T, NM_001190442.1:c.464C>T, NM_001330626.2:c.656C>T, NM_001330626.1:c.656C>T, NM_001330628.2:c.545C>T, NM_001330628.1:c.545C>T, NM_001330627.2:c.590C>T, NM_001330627.1:c.590C>T, NM_001330631.2:c.464C>T, NM_001330631.1:c.464C>T, NM_001330633.2:c.407C>T, NM_001330633.1:c.407C>T, NM_001330632.2:c.398C>T, NM_001330632.1:c.398C>T, NM_001330634.2:c.407C>T, NM_001330634.1:c.407C>T, NM_001330630.2:c.341C>T, NM_001330630.1:c.341C>T, NM_001375317.1:c.602C>T, NM_001329966.1:c.647C>T, NM_173063.1:c.647C>T, NM_173062.1:c.149C>T, NP_001741.4:p.Ala238Val, NP_001035905.1:p.Ala197Val, NP_775083.1:p.Ala133Val, NP_001271141.1:p.Ala114Val, NP_001271142.1:p.Ala83Val, NP_001035906.1:p.Ala219Val, NP_001035907.1:p.Ala216Val, NP_001035908.1:p.Ala155Val, NP_001035910.1:p.Ala133Val, NP_001035909.1:p.Ala114Val, NP_001035911.1:p.Ala114Val, NP_001317558.1:p.Ala223Val, NP_001177371.1:p.Ala155Val, NP_001317555.1:p.Ala219Val, NP_001317557.1:p.Ala182Val, NP_001317556.1:p.Ala197Val, NP_001317560.1:p.Ala155Val, NP_001317562.1:p.Ala136Val, NP_001317561.1:p.Ala133Val, NP_001317563.1:p.Ala136Val, NP_001317559.1:p.Ala114Val, NP_001362246.1:p.Ala201Val

                              15.

                              rs1452814177 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                5:96748547 (GRCh38)
                                5:96084251 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:96748546:A:C
                                Gene:
                                CAST (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000005.10:g.96748547A>C, NC_000005.9:g.96084251A>C, NG_029490.2:g.91511A>C, NM_001750.7:c.1362A>C, NM_001750.6:c.1362A>C, NM_001750.5:c.1362A>C, NM_001750.4:c.1113A>C, NM_001750.3:c.990A>C, NM_001750.2:c.282A>C, NM_001750.1:c.282A>C, NM_001042440.5:c.1239A>C, NM_001042440.4:c.1239A>C, NM_001042440.3:c.1239A>C, NM_001042440.2:c.1239A>C, NM_173060.5:c.1047A>C, NM_173060.4:c.1047A>C, NM_173060.3:c.1047A>C, NM_001284212.4:c.990A>C, NM_001284212.3:c.990A>C, NM_001284212.2:c.990A>C, NM_001284212.1:c.990A>C, NM_001284213.4:c.897A>C, NM_001284213.3:c.897A>C, NM_001284213.2:c.897A>C, NM_001284213.1:c.897A>C, NM_001042441.3:c.1305A>C, NM_001042441.2:c.1305A>C, NM_001042441.1:c.1305A>C, NM_001042442.3:c.1296A>C, NM_001042442.2:c.1296A>C, NM_001042442.1:c.1296A>C, NM_001042443.3:c.1113A>C, NM_001042443.2:c.1113A>C, NM_001042443.1:c.1113A>C, NM_001042445.3:c.1008A>C, NM_001042445.2:c.1008A>C, NM_001042445.1:c.1008A>C, NM_001042444.3:c.990A>C, NM_001042444.2:c.990A>C, NM_001042444.1:c.990A>C, NM_001042446.3:c.951A>C, NM_001042446.2:c.951A>C, NM_001042446.1:c.951A>C, NM_001330629.2:c.1278A>C, NM_001330629.1:c.1278A>C, NM_001190442.2:c.1074A>C, NM_001190442.1:c.1074A>C, NM_001330626.2:c.1266A>C, NM_001330626.1:c.1266A>C, NM_001330628.2:c.1194A>C, NM_001330628.1:c.1194A>C, NM_001330627.2:c.1239A>C, NM_001330627.1:c.1239A>C, NM_001330631.2:c.1074A>C, NM_001330631.1:c.1074A>C, NM_001330633.2:c.1056A>C, NM_001330633.1:c.1056A>C, NM_001330632.2:c.1047A>C, NM_001330632.1:c.1047A>C, NM_001330634.2:c.1017A>C, NM_001330634.1:c.1017A>C, NM_001330630.2:c.951A>C, NM_001330630.1:c.951A>C, NR_104285.2:n.307A>C, NR_104285.1:n.369A>C, NM_001375317.1:c.1251A>C, NM_173061.2:c.282A>C, NM_001329966.1:c.1296A>C, NM_173063.1:c.1257A>C, NM_173062.1:c.759A>C, NM_173061.1:c.282A>C, NR_033798.1:n.369A>C, NP_001741.4:p.Glu454Asp, NP_001035905.1:p.Glu413Asp, NP_775083.1:p.Glu349Asp, NP_001271141.1:p.Glu330Asp, NP_001271142.1:p.Glu299Asp, NP_001035906.1:p.Glu435Asp, NP_001035907.1:p.Glu432Asp, NP_001035908.1:p.Glu371Asp, NP_001035910.1:p.Glu336Asp, NP_001035909.1:p.Glu330Asp, NP_001035911.1:p.Glu317Asp, NP_001317558.1:p.Glu426Asp, NP_001177371.1:p.Glu358Asp, NP_001317555.1:p.Glu422Asp, NP_001317557.1:p.Glu398Asp, NP_001317556.1:p.Glu413Asp, NP_001317560.1:p.Glu358Asp, NP_001317562.1:p.Glu352Asp, NP_001317561.1:p.Glu349Asp, NP_001317563.1:p.Glu339Asp, NP_001317559.1:p.Glu317Asp, NP_001362246.1:p.Glu417Asp

                                16.

                                rs1452054341 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  5:96730805 (GRCh38)
                                  5:96066509 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:96730804:C:T
                                  Gene:
                                  CAST (Varview)
                                  Functional Consequence:
                                  intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000051/1 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000008/2 (GnomAD_exomes)
                                  T=0.000011/3 (TOPMED)
                                  HGVS:
                                  NC_000005.10:g.96730805C>T, NC_000005.9:g.96066509C>T, NG_029490.2:g.73769C>T, NM_001750.7:c.575C>T, NM_001750.6:c.575C>T, NM_001750.5:c.575C>T, NM_001750.4:c.326C>T, NM_001750.3:c.203C>T, NM_001042440.5:c.452C>T, NM_001042440.4:c.452C>T, NM_001042440.3:c.452C>T, NM_001042440.2:c.452C>T, NM_173060.5:c.260C>T, NM_173060.4:c.260C>T, NM_173060.3:c.260C>T, NM_001284212.4:c.203C>T, NM_001284212.3:c.203C>T, NM_001284212.2:c.203C>T, NM_001284212.1:c.203C>T, NM_001042441.3:c.518C>T, NM_001042441.2:c.518C>T, NM_001042441.1:c.518C>T, NM_001042442.3:c.509C>T, NM_001042442.2:c.509C>T, NM_001042442.1:c.509C>T, NM_001042443.3:c.326C>T, NM_001042443.2:c.326C>T, NM_001042443.1:c.326C>T, NM_001042445.3:c.260C>T, NM_001042445.2:c.260C>T, NM_001042445.1:c.260C>T, NM_001042444.3:c.203C>T, NM_001042444.2:c.203C>T, NM_001042444.1:c.203C>T, NM_001042446.3:c.203C>T, NM_001042446.2:c.203C>T, NM_001042446.1:c.203C>T, NM_001330629.2:c.530C>T, NM_001330629.1:c.530C>T, NM_001190442.2:c.326C>T, NM_001190442.1:c.326C>T, NM_001330626.2:c.518C>T, NM_001330626.1:c.518C>T, NM_001330628.2:c.407C>T, NM_001330628.1:c.407C>T, NM_001330627.2:c.452C>T, NM_001330627.1:c.452C>T, NM_001330631.2:c.326C>T, NM_001330631.1:c.326C>T, NM_001330633.2:c.269C>T, NM_001330633.1:c.269C>T, NM_001330632.2:c.260C>T, NM_001330632.1:c.260C>T, NM_001330634.2:c.269C>T, NM_001330634.1:c.269C>T, NM_001330630.2:c.203C>T, NM_001330630.1:c.203C>T, NM_001375317.1:c.464C>T, NM_001329966.1:c.509C>T, NM_173063.1:c.509C>T, NM_173062.1:c.11C>T, NP_001741.4:p.Ala192Val, NP_001035905.1:p.Ala151Val, NP_775083.1:p.Ala87Val, NP_001271141.1:p.Ala68Val, NP_001035906.1:p.Ala173Val, NP_001035907.1:p.Ala170Val, NP_001035908.1:p.Ala109Val, NP_001035910.1:p.Ala87Val, NP_001035909.1:p.Ala68Val, NP_001035911.1:p.Ala68Val, NP_001317558.1:p.Ala177Val, NP_001177371.1:p.Ala109Val, NP_001317555.1:p.Ala173Val, NP_001317557.1:p.Ala136Val, NP_001317556.1:p.Ala151Val, NP_001317560.1:p.Ala109Val, NP_001317562.1:p.Ala90Val, NP_001317561.1:p.Ala87Val, NP_001317563.1:p.Ala90Val, NP_001317559.1:p.Ala68Val, NP_001362246.1:p.Ala155Val

                                  17.

                                  rs1451357577 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AGCTCC>- [Show Flanks]
                                    Chromosome:
                                    5:96750607 (GRCh38)
                                    5:96086311 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:96750601:GCTCCAGCTCC:GCTCC
                                    Gene:
                                    CAST (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,inframe_deletion
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    GCTCC=0.000111/1 (ALFA)
                                    -=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000005.10:g.96750607_96750612del, NC_000005.9:g.96086311_96086316del, NG_029490.2:g.93571_93576del, NM_001750.7:c.1449_1454del, NM_001750.6:c.1449_1454del, NM_001750.5:c.1449_1454del, NM_001750.4:c.1200_1205del, NM_001750.3:c.1077_1082del, NM_001750.2:c.369_374del, NM_001750.1:c.369_374del, NM_001042440.5:c.1326_1331del, NM_001042440.4:c.1326_1331del, NM_001042440.3:c.1326_1331del, NM_001042440.2:c.1326_1331del, NM_173060.5:c.1134_1139del, NM_173060.4:c.1134_1139del, NM_173060.3:c.1134_1139del, NM_001284212.4:c.1077_1082del, NM_001284212.3:c.1077_1082del, NM_001284212.2:c.1077_1082del, NM_001284212.1:c.1077_1082del, NM_001284213.4:c.984_989del, NM_001284213.3:c.984_989del, NM_001284213.2:c.984_989del, NM_001284213.1:c.984_989del, NM_001042441.3:c.1392_1397del, NM_001042441.2:c.1392_1397del, NM_001042441.1:c.1392_1397del, NM_001042442.3:c.1383_1388del, NM_001042442.2:c.1383_1388del, NM_001042442.1:c.1383_1388del, NM_001042443.3:c.1200_1205del, NM_001042443.2:c.1200_1205del, NM_001042443.1:c.1200_1205del, NM_001042445.3:c.1095_1100del, NM_001042445.2:c.1095_1100del, NM_001042445.1:c.1095_1100del, NM_001042444.3:c.1077_1082del, NM_001042444.2:c.1077_1082del, NM_001042444.1:c.1077_1082del, NM_001042446.3:c.1038_1043del, NM_001042446.2:c.1038_1043del, NM_001042446.1:c.1038_1043del, NM_001330629.2:c.1365_1370del, NM_001330629.1:c.1365_1370del, NM_001190442.2:c.1161_1166del, NM_001190442.1:c.1161_1166del, NM_001330626.2:c.1353_1358del, NM_001330626.1:c.1353_1358del, NM_001330628.2:c.1281_1286del, NM_001330628.1:c.1281_1286del, NM_001330627.2:c.1326_1331del, NM_001330627.1:c.1326_1331del, NM_001330631.2:c.1161_1166del, NM_001330631.1:c.1161_1166del, NM_001330633.2:c.1143_1148del, NM_001330633.1:c.1143_1148del, NM_001330632.2:c.1134_1139del, NM_001330632.1:c.1134_1139del, NM_001330634.2:c.1104_1109del, NM_001330634.1:c.1104_1109del, NM_001330630.2:c.1038_1043del, NM_001330630.1:c.1038_1043del, NR_104285.2:n.394_399del, NR_104285.1:n.456_461del, NM_001375317.1:c.1338_1343del, NM_173061.2:c.369_374del, NM_001329966.1:c.1383_1388del, NM_173063.1:c.1344_1349del, NM_173062.1:c.846_851del, NM_173061.1:c.369_374del, NR_033798.1:n.456_461del, NP_001741.4:p.482AP[1], NP_001035905.1:p.441AP[1], NP_775083.1:p.377AP[1], NP_001271141.1:p.358AP[1], NP_001271142.1:p.327AP[1], NP_001035906.1:p.463AP[1], NP_001035907.1:p.460AP[1], NP_001035908.1:p.399AP[1], NP_001035910.1:p.364AP[1], NP_001035909.1:p.358AP[1], NP_001035911.1:p.345AP[1], NP_001317558.1:p.454AP[1], NP_001177371.1:p.386AP[1], NP_001317555.1:p.450AP[1], NP_001317557.1:p.426AP[1], NP_001317556.1:p.441AP[1], NP_001317560.1:p.386AP[1], NP_001317562.1:p.380AP[1], NP_001317561.1:p.377AP[1], NP_001317563.1:p.367AP[1], NP_001317559.1:p.345AP[1], NP_001362246.1:p.445AP[1]

                                    18.

                                    rs1449858716 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      5:96765306 (GRCh38)
                                      5:96101010 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:96765305:C:A
                                      Gene:
                                      CAST (Varview), ERAP1 (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      A=0.000005/1 (GnomAD_exomes)
                                      A=0.000013/1 (GnomAD)
                                      HGVS:
                                      NC_000005.10:g.96765306C>A, NC_000005.9:g.96101010C>A, NG_027839.2:g.175678G>T, NG_029490.2:g.108270C>A, NM_001750.7:c.2018C>A, NM_001750.6:c.2018C>A, NM_001750.5:c.2018C>A, NM_001750.4:c.1769C>A, NM_001750.3:c.1646C>A, NM_001750.2:c.935C>A, NM_001750.1:c.935C>A, NM_001042440.5:c.1895C>A, NM_001042440.4:c.1895C>A, NM_001042440.3:c.1895C>A, NM_001042440.2:c.1895C>A, NM_173060.5:c.1703C>A, NM_173060.4:c.1703C>A, NM_173060.3:c.1703C>A, NM_001284212.4:c.1643C>A, NM_001284212.3:c.1643C>A, NM_001284212.2:c.1643C>A, NM_001284212.1:c.1643C>A, NM_001284213.4:c.1553C>A, NM_001284213.3:c.1553C>A, NM_001284213.2:c.1553C>A, NM_001284213.1:c.1553C>A, NM_001042441.3:c.1961C>A, NM_001042441.2:c.1961C>A, NM_001042441.1:c.1961C>A, NM_001042442.3:c.1952C>A, NM_001042442.2:c.1952C>A, NM_001042442.1:c.1952C>A, NM_001042443.3:c.1769C>A, NM_001042443.2:c.1769C>A, NM_001042443.1:c.1769C>A, NM_001042445.3:c.1664C>A, NM_001042445.2:c.1664C>A, NM_001042445.1:c.1664C>A, NM_001042444.3:c.1646C>A, NM_001042444.2:c.1646C>A, NM_001042444.1:c.1646C>A, NM_001042446.3:c.1607C>A, NM_001042446.2:c.1607C>A, NM_001042446.1:c.1607C>A, NM_001330629.2:c.1934C>A, NM_001330629.1:c.1934C>A, NM_001190442.2:c.1730C>A, NM_001190442.1:c.1730C>A, NM_001330626.2:c.1922C>A, NM_001330626.1:c.1922C>A, NM_001330628.2:c.1850C>A, NM_001330628.1:c.1850C>A, NM_001330627.2:c.1892C>A, NM_001330627.1:c.1892C>A, NM_001330631.2:c.1730C>A, NM_001330631.1:c.1730C>A, NM_001330633.2:c.1712C>A, NM_001330633.1:c.1712C>A, NM_001330632.2:c.1700C>A, NM_001330632.1:c.1700C>A, NM_001330634.2:c.1673C>A, NM_001330634.1:c.1673C>A, NM_001330630.2:c.1604C>A, NM_001330630.1:c.1604C>A, NR_104285.2:n.960C>A, NR_104285.1:n.1022C>A, NM_001375317.1:c.1907C>A, NM_173061.2:c.935C>A, NM_001329966.1:c.1952C>A, NM_173063.1:c.1913C>A, NM_173062.1:c.1415C>A, NM_173061.1:c.935C>A, NR_033798.1:n.1025C>A, NP_001741.4:p.Pro673Gln, NP_001035905.1:p.Pro632Gln, NP_775083.1:p.Pro568Gln, NP_001271141.1:p.Pro548Gln, NP_001271142.1:p.Pro518Gln, NP_001035906.1:p.Pro654Gln, NP_001035907.1:p.Pro651Gln, NP_001035908.1:p.Pro590Gln, NP_001035910.1:p.Pro555Gln, NP_001035909.1:p.Pro549Gln, NP_001035911.1:p.Pro536Gln, NP_001317558.1:p.Pro645Gln, NP_001177371.1:p.Pro577Gln, NP_001317555.1:p.Pro641Gln, NP_001317557.1:p.Pro617Gln, NP_001317556.1:p.Pro631Gln, NP_001317560.1:p.Pro577Gln, NP_001317562.1:p.Pro571Gln, NP_001317561.1:p.Pro567Gln, NP_001317563.1:p.Pro558Gln, NP_001317559.1:p.Pro535Gln, NP_001362246.1:p.Pro636Gln

                                      19.

                                      rs1449313969 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        5:96729665 (GRCh38)
                                        5:96065369 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:96729664:T:C
                                        Gene:
                                        CAST (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000019/5 (TOPMED)
                                        HGVS:
                                        NC_000005.10:g.96729665T>C, NC_000005.9:g.96065369T>C, NG_029490.2:g.72629T>C, NM_001750.7:c.489T>C, NM_001750.6:c.489T>C, NM_001750.5:c.489T>C, NM_001750.4:c.240T>C, NM_001750.3:c.117T>C, NM_001042440.5:c.366T>C, NM_001042440.4:c.366T>C, NM_001042440.3:c.366T>C, NM_001042440.2:c.366T>C, NM_173060.5:c.174T>C, NM_173060.4:c.174T>C, NM_173060.3:c.174T>C, NM_001284212.4:c.117T>C, NM_001284212.3:c.117T>C, NM_001284212.2:c.117T>C, NM_001284212.1:c.117T>C, NM_001284213.4:c.174T>C, NM_001284213.3:c.174T>C, NM_001284213.2:c.174T>C, NM_001284213.1:c.174T>C, NM_001042441.3:c.432T>C, NM_001042441.2:c.432T>C, NM_001042441.1:c.432T>C, NM_001042442.3:c.423T>C, NM_001042442.2:c.423T>C, NM_001042442.1:c.423T>C, NM_001042443.3:c.240T>C, NM_001042443.2:c.240T>C, NM_001042443.1:c.240T>C, NM_001042445.3:c.174T>C, NM_001042445.2:c.174T>C, NM_001042445.1:c.174T>C, NM_001042444.3:c.117T>C, NM_001042444.2:c.117T>C, NM_001042444.1:c.117T>C, NM_001042446.3:c.117T>C, NM_001042446.2:c.117T>C, NM_001042446.1:c.117T>C, NM_001330629.2:c.444T>C, NM_001330629.1:c.444T>C, NM_001190442.2:c.240T>C, NM_001190442.1:c.240T>C, NM_001330626.2:c.432T>C, NM_001330626.1:c.432T>C, NM_001330628.2:c.321T>C, NM_001330628.1:c.321T>C, NM_001330627.2:c.366T>C, NM_001330627.1:c.366T>C, NM_001330631.2:c.240T>C, NM_001330631.1:c.240T>C, NM_001330633.2:c.183T>C, NM_001330633.1:c.183T>C, NM_001330632.2:c.174T>C, NM_001330632.1:c.174T>C, NM_001330634.2:c.183T>C, NM_001330634.1:c.183T>C, NM_001330630.2:c.117T>C, NM_001330630.1:c.117T>C, NM_001375317.1:c.378T>C, NM_001329966.1:c.423T>C, NM_173063.1:c.423T>C, NM_173062.1:c.-76T>C

                                        20.

                                        rs1447486511 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          5:96736236 (GRCh38)
                                          5:96071940 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:96736235:G:A,NC_000005.10:96736235:G:C
                                          Gene:
                                          CAST (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000005.10:g.96736236G>A, NC_000005.10:g.96736236G>C, NC_000005.9:g.96071940G>A, NC_000005.9:g.96071940G>C, NG_029490.2:g.79200G>A, NG_029490.2:g.79200G>C, NM_001750.7:c.695G>A, NM_001750.7:c.695G>C, NM_001750.6:c.695G>A, NM_001750.6:c.695G>C, NM_001750.5:c.695G>A, NM_001750.5:c.695G>C, NM_001750.4:c.446G>A, NM_001750.4:c.446G>C, NM_001750.3:c.323G>A, NM_001750.3:c.323G>C, NM_001042440.5:c.572G>A, NM_001042440.5:c.572G>C, NM_001042440.4:c.572G>A, NM_001042440.4:c.572G>C, NM_001042440.3:c.572G>A, NM_001042440.3:c.572G>C, NM_001042440.2:c.572G>A, NM_001042440.2:c.572G>C, NM_173060.5:c.380G>A, NM_173060.5:c.380G>C, NM_173060.4:c.380G>A, NM_173060.4:c.380G>C, NM_173060.3:c.380G>A, NM_173060.3:c.380G>C, NM_001284212.4:c.323G>A, NM_001284212.4:c.323G>C, NM_001284212.3:c.323G>A, NM_001284212.3:c.323G>C, NM_001284212.2:c.323G>A, NM_001284212.2:c.323G>C, NM_001284212.1:c.323G>A, NM_001284212.1:c.323G>C, NM_001042441.3:c.638G>A, NM_001042441.3:c.638G>C, NM_001042441.2:c.638G>A, NM_001042441.2:c.638G>C, NM_001042441.1:c.638G>A, NM_001042441.1:c.638G>C, NM_001042442.3:c.629G>A, NM_001042442.3:c.629G>C, NM_001042442.2:c.629G>A, NM_001042442.2:c.629G>C, NM_001042442.1:c.629G>A, NM_001042442.1:c.629G>C, NM_001042443.3:c.446G>A, NM_001042443.3:c.446G>C, NM_001042443.2:c.446G>A, NM_001042443.2:c.446G>C, NM_001042443.1:c.446G>A, NM_001042443.1:c.446G>C, NM_001042445.3:c.380G>A, NM_001042445.3:c.380G>C, NM_001042445.2:c.380G>A, NM_001042445.2:c.380G>C, NM_001042445.1:c.380G>A, NM_001042445.1:c.380G>C, NM_001042444.3:c.323G>A, NM_001042444.3:c.323G>C, NM_001042444.2:c.323G>A, NM_001042444.2:c.323G>C, NM_001042444.1:c.323G>A, NM_001042444.1:c.323G>C, NM_001042446.3:c.323G>A, NM_001042446.3:c.323G>C, NM_001042446.2:c.323G>A, NM_001042446.2:c.323G>C, NM_001042446.1:c.323G>A, NM_001042446.1:c.323G>C, NM_001330629.2:c.650G>A, NM_001330629.2:c.650G>C, NM_001330629.1:c.650G>A, NM_001330629.1:c.650G>C, NM_001190442.2:c.446G>A, NM_001190442.2:c.446G>C, NM_001190442.1:c.446G>A, NM_001190442.1:c.446G>C, NM_001330626.2:c.638G>A, NM_001330626.2:c.638G>C, NM_001330626.1:c.638G>A, NM_001330626.1:c.638G>C, NM_001330628.2:c.527G>A, NM_001330628.2:c.527G>C, NM_001330628.1:c.527G>A, NM_001330628.1:c.527G>C, NM_001330627.2:c.572G>A, NM_001330627.2:c.572G>C, NM_001330627.1:c.572G>A, NM_001330627.1:c.572G>C, NM_001330631.2:c.446G>A, NM_001330631.2:c.446G>C, NM_001330631.1:c.446G>A, NM_001330631.1:c.446G>C, NM_001330633.2:c.389G>A, NM_001330633.2:c.389G>C, NM_001330633.1:c.389G>A, NM_001330633.1:c.389G>C, NM_001330632.2:c.380G>A, NM_001330632.2:c.380G>C, NM_001330632.1:c.380G>A, NM_001330632.1:c.380G>C, NM_001330634.2:c.389G>A, NM_001330634.2:c.389G>C, NM_001330634.1:c.389G>A, NM_001330634.1:c.389G>C, NM_001330630.2:c.323G>A, NM_001330630.2:c.323G>C, NM_001330630.1:c.323G>A, NM_001330630.1:c.323G>C, NM_001375317.1:c.584G>A, NM_001375317.1:c.584G>C, NM_001329966.1:c.629G>A, NM_001329966.1:c.629G>C, NM_173063.1:c.629G>A, NM_173063.1:c.629G>C, NM_173062.1:c.131G>A, NM_173062.1:c.131G>C, NP_001741.4:p.Gly232Glu, NP_001741.4:p.Gly232Ala, NP_001035905.1:p.Gly191Glu, NP_001035905.1:p.Gly191Ala, NP_775083.1:p.Gly127Glu, NP_775083.1:p.Gly127Ala, NP_001271141.1:p.Gly108Glu, NP_001271141.1:p.Gly108Ala, NP_001035906.1:p.Gly213Glu, NP_001035906.1:p.Gly213Ala, NP_001035907.1:p.Gly210Glu, NP_001035907.1:p.Gly210Ala, NP_001035908.1:p.Gly149Glu, NP_001035908.1:p.Gly149Ala, NP_001035910.1:p.Gly127Glu, NP_001035910.1:p.Gly127Ala, NP_001035909.1:p.Gly108Glu, NP_001035909.1:p.Gly108Ala, NP_001035911.1:p.Gly108Glu, NP_001035911.1:p.Gly108Ala, NP_001317558.1:p.Gly217Glu, NP_001317558.1:p.Gly217Ala, NP_001177371.1:p.Gly149Glu, NP_001177371.1:p.Gly149Ala, NP_001317555.1:p.Gly213Glu, NP_001317555.1:p.Gly213Ala, NP_001317557.1:p.Gly176Glu, NP_001317557.1:p.Gly176Ala, NP_001317556.1:p.Gly191Glu, NP_001317556.1:p.Gly191Ala, NP_001317560.1:p.Gly149Glu, NP_001317560.1:p.Gly149Ala, NP_001317562.1:p.Gly130Glu, NP_001317562.1:p.Gly130Ala, NP_001317561.1:p.Gly127Glu, NP_001317561.1:p.Gly127Ala, NP_001317563.1:p.Gly130Glu, NP_001317563.1:p.Gly130Ala, NP_001317559.1:p.Gly108Glu, NP_001317559.1:p.Gly108Ala, NP_001362246.1:p.Gly195Glu, NP_001362246.1:p.Gly195Ala

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