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Items: 1 to 20 of 554

1.

rs1490889029 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    2:134317531 (GRCh38)
    2:135075102 (GRCh37)
    Canonical SPDI:
    NC_000002.12:134317530:A:G
    Gene:
    MGAT5 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000008/2 (TOPMED)
    HGVS:
    NC_000002.12:g.134317531A>G, NC_000002.11:g.135075102A>G, NG_030324.1:g.68273A>G, NM_002410.5:c.409A>G, NM_002410.4:c.409A>G, NM_001371457.1:c.409A>G, XM_005263669.6:c.409A>G, XM_005263669.5:c.409A>G, XM_005263669.4:c.409A>G, XM_005263669.3:c.409A>G, XM_005263669.2:c.409A>G, XM_005263669.1:c.409A>G, XM_006712534.4:c.409A>G, XM_006712534.3:c.409A>G, XM_006712534.2:c.409A>G, XM_006712534.1:c.409A>G, XM_011511199.3:c.409A>G, XM_011511199.2:c.409A>G, XM_011511199.1:c.409A>G, XM_017004147.3:c.409A>G, XM_017004147.2:c.409A>G, XM_017004147.1:c.409A>G, XM_011511201.3:c.409A>G, XM_011511201.2:c.409A>G, XM_011511201.1:c.409A>G, XM_011511202.3:c.409A>G, XM_011511202.2:c.409A>G, XM_011511202.1:c.409A>G, XM_017004148.2:c.409A>G, XM_017004148.1:c.409A>G, XM_017004149.2:c.409A>G, XM_017004149.1:c.409A>G, XM_047444402.1:c.409A>G, XM_047444404.1:c.409A>G, XM_047444395.1:c.409A>G, XM_047444401.1:c.409A>G, XM_047444399.1:c.409A>G, XM_047444396.1:c.409A>G, XM_047444394.1:c.409A>G, XM_047444397.1:c.409A>G, XM_047444400.1:c.409A>G, XM_047444403.1:c.409A>G, XM_047444405.1:c.409A>G, XM_047444398.1:c.409A>G, XM_047444406.1:c.409A>G, NP_002401.1:p.Ile137Val, NP_001358386.1:p.Ile137Val, XP_005263726.1:p.Ile137Val, XP_006712597.1:p.Ile137Val, XP_011509501.1:p.Ile137Val, XP_016859636.1:p.Ile137Val, XP_011509503.1:p.Ile137Val, XP_011509504.1:p.Ile137Val, XP_016859637.1:p.Ile137Val, XP_016859638.1:p.Ile137Val, XP_047300358.1:p.Ile137Val, XP_047300360.1:p.Ile137Val, XP_047300351.1:p.Ile137Val, XP_047300357.1:p.Ile137Val, XP_047300355.1:p.Ile137Val, XP_047300352.1:p.Ile137Val, XP_047300350.1:p.Ile137Val, XP_047300353.1:p.Ile137Val, XP_047300356.1:p.Ile137Val, XP_047300359.1:p.Ile137Val, XP_047300361.1:p.Ile137Val, XP_047300354.1:p.Ile137Val, XP_047300362.1:p.Ile137Val

    2.

    rs1489967783 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      2:134341758 (GRCh38)
      2:135099329 (GRCh37)
      Canonical SPDI:
      NC_000002.12:134341757:G:C
      Gene:
      MGAT5 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000224/1 (ALFA)
      C=0.000007/1 (GnomAD)
      C=0.000223/1 (Estonian)
      HGVS:
      NC_000002.12:g.134341758G>C, NC_000002.11:g.135099329G>C, NG_030324.1:g.92500G>C, NM_002410.5:c.976G>C, NM_002410.4:c.976G>C, NM_001371457.1:c.976G>C, XM_005263669.6:c.976G>C, XM_005263669.5:c.976G>C, XM_005263669.4:c.976G>C, XM_005263669.3:c.976G>C, XM_005263669.2:c.976G>C, XM_005263669.1:c.976G>C, XM_006712534.4:c.976G>C, XM_006712534.3:c.976G>C, XM_006712534.2:c.976G>C, XM_006712534.1:c.976G>C, XM_011511199.3:c.976G>C, XM_011511199.2:c.976G>C, XM_011511199.1:c.976G>C, XM_017004147.3:c.976G>C, XM_017004147.2:c.976G>C, XM_017004147.1:c.976G>C, XM_011511201.3:c.976G>C, XM_011511201.2:c.976G>C, XM_011511201.1:c.976G>C, XM_011511202.3:c.976G>C, XM_011511202.2:c.976G>C, XM_011511202.1:c.976G>C, XM_017004148.2:c.976G>C, XM_017004148.1:c.976G>C, XM_017004149.2:c.976G>C, XM_017004149.1:c.976G>C, XM_047444402.1:c.976G>C, XM_047444404.1:c.976G>C, XM_047444395.1:c.976G>C, XM_047444401.1:c.976G>C, XM_047444399.1:c.976G>C, XM_047444396.1:c.976G>C, XM_047444394.1:c.976G>C, XM_047444397.1:c.976G>C, XM_047444400.1:c.976G>C, XM_047444403.1:c.976G>C, XM_047444405.1:c.976G>C, XM_047444398.1:c.976G>C, XM_047444406.1:c.976G>C, NP_002401.1:p.Glu326Gln, NP_001358386.1:p.Glu326Gln, XP_005263726.1:p.Glu326Gln, XP_006712597.1:p.Glu326Gln, XP_011509501.1:p.Glu326Gln, XP_016859636.1:p.Glu326Gln, XP_011509503.1:p.Glu326Gln, XP_011509504.1:p.Glu326Gln, XP_016859637.1:p.Glu326Gln, XP_016859638.1:p.Glu326Gln, XP_047300358.1:p.Glu326Gln, XP_047300360.1:p.Glu326Gln, XP_047300351.1:p.Glu326Gln, XP_047300357.1:p.Glu326Gln, XP_047300355.1:p.Glu326Gln, XP_047300352.1:p.Glu326Gln, XP_047300350.1:p.Glu326Gln, XP_047300353.1:p.Glu326Gln, XP_047300356.1:p.Glu326Gln, XP_047300359.1:p.Glu326Gln, XP_047300361.1:p.Glu326Gln, XP_047300354.1:p.Glu326Gln, XP_047300362.1:p.Glu326Gln

      3.

      rs1487941979 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        2:134403050 (GRCh38)
        2:135160621 (GRCh37)
        Canonical SPDI:
        NC_000002.12:134403049:C:G,NC_000002.12:134403049:C:T
        Gene:
        MGAT5 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by cluster
        MAF:
        C=0.5/1 (SGDP_PRJ)
        HGVS:
        NC_000002.12:g.134403050C>G, NC_000002.12:g.134403050C>T, NC_000002.11:g.135160621C>G, NC_000002.11:g.135160621C>T, NG_030324.1:g.153792C>G, NG_030324.1:g.153792C>T, NM_002410.5:c.1443C>G, NM_002410.5:c.1443C>T, NM_002410.4:c.1443C>G, NM_002410.4:c.1443C>T, NM_001371457.1:c.1443C>G, NM_001371457.1:c.1443C>T, XM_005263669.6:c.1443C>G, XM_005263669.6:c.1443C>T, XM_005263669.5:c.1443C>G, XM_005263669.5:c.1443C>T, XM_005263669.4:c.1443C>G, XM_005263669.4:c.1443C>T, XM_005263669.3:c.1443C>G, XM_005263669.3:c.1443C>T, XM_005263669.2:c.1443C>G, XM_005263669.2:c.1443C>T, XM_005263669.1:c.1443C>G, XM_005263669.1:c.1443C>T, XM_006712534.4:c.1443C>G, XM_006712534.4:c.1443C>T, XM_006712534.3:c.1443C>G, XM_006712534.3:c.1443C>T, XM_006712534.2:c.1443C>G, XM_006712534.2:c.1443C>T, XM_006712534.1:c.1443C>G, XM_006712534.1:c.1443C>T, XM_011511199.3:c.1443C>G, XM_011511199.3:c.1443C>T, XM_011511199.2:c.1443C>G, XM_011511199.2:c.1443C>T, XM_011511199.1:c.1443C>G, XM_011511199.1:c.1443C>T, XM_017004147.3:c.1443C>G, XM_017004147.3:c.1443C>T, XM_017004147.2:c.1443C>G, XM_017004147.2:c.1443C>T, XM_017004147.1:c.1443C>G, XM_017004147.1:c.1443C>T, XM_011511201.3:c.1443C>G, XM_011511201.3:c.1443C>T, XM_011511201.2:c.1443C>G, XM_011511201.2:c.1443C>T, XM_011511201.1:c.1443C>G, XM_011511201.1:c.1443C>T, XM_011511202.3:c.1443C>G, XM_011511202.3:c.1443C>T, XM_011511202.2:c.1443C>G, XM_011511202.2:c.1443C>T, XM_011511202.1:c.1443C>G, XM_011511202.1:c.1443C>T, XM_017004148.2:c.1443C>G, XM_017004148.2:c.1443C>T, XM_017004148.1:c.1443C>G, XM_017004148.1:c.1443C>T, XM_047444402.1:c.1443C>G, XM_047444402.1:c.1443C>T, XM_047444404.1:c.1443C>G, XM_047444404.1:c.1443C>T, XM_047444395.1:c.1443C>G, XM_047444395.1:c.1443C>T, XM_047444401.1:c.1443C>G, XM_047444401.1:c.1443C>T, XM_047444399.1:c.1443C>G, XM_047444399.1:c.1443C>T, XM_047444396.1:c.1443C>G, XM_047444396.1:c.1443C>T, XM_047444394.1:c.1443C>G, XM_047444394.1:c.1443C>T, XM_047444397.1:c.1443C>G, XM_047444397.1:c.1443C>T, XM_047444400.1:c.1443C>G, XM_047444400.1:c.1443C>T, XM_047444403.1:c.1443C>G, XM_047444403.1:c.1443C>T, XM_047444405.1:c.1443C>G, XM_047444405.1:c.1443C>T, XM_047444398.1:c.1443C>G, XM_047444398.1:c.1443C>T

        4.

        rs1487021743 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          2:134448824 (GRCh38)
          2:135206395 (GRCh37)
          Canonical SPDI:
          NC_000002.12:134448823:G:A
          Gene:
          MGAT5 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000002.12:g.134448824G>A, NC_000002.11:g.135206395G>A, NG_030324.1:g.199566G>A, NM_002410.5:c.2203G>A, NM_002410.4:c.2203G>A, NM_001371457.1:c.2203G>A, XM_005263669.6:c.2203G>A, XM_005263669.5:c.2203G>A, XM_005263669.4:c.2203G>A, XM_005263669.3:c.2203G>A, XM_005263669.2:c.2203G>A, XM_005263669.1:c.2203G>A, XM_006712534.4:c.2203G>A, XM_006712534.3:c.2203G>A, XM_006712534.2:c.2203G>A, XM_006712534.1:c.2203G>A, XM_011511199.3:c.2203G>A, XM_011511199.2:c.2203G>A, XM_011511199.1:c.2203G>A, XM_017004147.3:c.2203G>A, XM_017004147.2:c.2203G>A, XM_017004147.1:c.2203G>A, XM_011511201.3:c.2203G>A, XM_011511201.2:c.2203G>A, XM_011511201.1:c.2203G>A, XM_011511202.3:c.2203G>A, XM_011511202.2:c.2203G>A, XM_011511202.1:c.2203G>A, XM_017004148.2:c.2203G>A, XM_017004148.1:c.2203G>A, XM_047444402.1:c.2203G>A, XM_047444404.1:c.2203G>A, XM_047444395.1:c.2203G>A, XM_047444401.1:c.2203G>A, XM_047444399.1:c.2203G>A, XM_047444396.1:c.2203G>A, XM_047444394.1:c.2203G>A, XM_047444397.1:c.2203G>A, XM_047444400.1:c.2203G>A, XM_047444403.1:c.2203G>A, XM_047444405.1:c.2203G>A, XM_047444398.1:c.2203G>A, NP_002401.1:p.Ala735Thr, NP_001358386.1:p.Ala735Thr, XP_005263726.1:p.Ala735Thr, XP_006712597.1:p.Ala735Thr, XP_011509501.1:p.Ala735Thr, XP_016859636.1:p.Ala735Thr, XP_011509503.1:p.Ala735Thr, XP_011509504.1:p.Ala735Thr, XP_016859637.1:p.Ala735Thr, XP_047300358.1:p.Ala735Thr, XP_047300360.1:p.Ala735Thr, XP_047300351.1:p.Ala735Thr, XP_047300357.1:p.Ala735Thr, XP_047300355.1:p.Ala735Thr, XP_047300352.1:p.Ala735Thr, XP_047300350.1:p.Ala735Thr, XP_047300353.1:p.Ala735Thr, XP_047300356.1:p.Ala735Thr, XP_047300359.1:p.Ala735Thr, XP_047300361.1:p.Ala735Thr, XP_047300354.1:p.Ala735Thr

          5.

          rs1484759679 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            2:134317552 (GRCh38)
            2:135075123 (GRCh37)
            Canonical SPDI:
            NC_000002.12:134317551:A:G
            Gene:
            MGAT5 (Varview)
            Functional Consequence:
            missense_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)
            HGVS:
            NC_000002.12:g.134317552A>G, NC_000002.11:g.135075123A>G, NG_030324.1:g.68294A>G, NM_002410.5:c.430A>G, NM_002410.4:c.430A>G, NM_001371457.1:c.430A>G, XM_005263669.6:c.430A>G, XM_005263669.5:c.430A>G, XM_005263669.4:c.430A>G, XM_005263669.3:c.430A>G, XM_005263669.2:c.430A>G, XM_005263669.1:c.430A>G, XM_006712534.4:c.430A>G, XM_006712534.3:c.430A>G, XM_006712534.2:c.430A>G, XM_006712534.1:c.430A>G, XM_011511199.3:c.430A>G, XM_011511199.2:c.430A>G, XM_011511199.1:c.430A>G, XM_017004147.3:c.430A>G, XM_017004147.2:c.430A>G, XM_017004147.1:c.430A>G, XM_011511201.3:c.430A>G, XM_011511201.2:c.430A>G, XM_011511201.1:c.430A>G, XM_011511202.3:c.430A>G, XM_011511202.2:c.430A>G, XM_011511202.1:c.430A>G, XM_017004148.2:c.430A>G, XM_017004148.1:c.430A>G, XM_017004149.2:c.430A>G, XM_017004149.1:c.430A>G, XM_047444402.1:c.430A>G, XM_047444404.1:c.430A>G, XM_047444395.1:c.430A>G, XM_047444401.1:c.430A>G, XM_047444399.1:c.430A>G, XM_047444396.1:c.430A>G, XM_047444394.1:c.430A>G, XM_047444397.1:c.430A>G, XM_047444400.1:c.430A>G, XM_047444403.1:c.430A>G, XM_047444405.1:c.430A>G, XM_047444398.1:c.430A>G, XM_047444406.1:c.430A>G, NP_002401.1:p.Lys144Glu, NP_001358386.1:p.Lys144Glu, XP_005263726.1:p.Lys144Glu, XP_006712597.1:p.Lys144Glu, XP_011509501.1:p.Lys144Glu, XP_016859636.1:p.Lys144Glu, XP_011509503.1:p.Lys144Glu, XP_011509504.1:p.Lys144Glu, XP_016859637.1:p.Lys144Glu, XP_016859638.1:p.Lys144Glu, XP_047300358.1:p.Lys144Glu, XP_047300360.1:p.Lys144Glu, XP_047300351.1:p.Lys144Glu, XP_047300357.1:p.Lys144Glu, XP_047300355.1:p.Lys144Glu, XP_047300352.1:p.Lys144Glu, XP_047300350.1:p.Lys144Glu, XP_047300353.1:p.Lys144Glu, XP_047300356.1:p.Lys144Glu, XP_047300359.1:p.Lys144Glu, XP_047300361.1:p.Lys144Glu, XP_047300354.1:p.Lys144Glu, XP_047300362.1:p.Lys144Glu

            6.

            rs1484509674 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              2:134349896 (GRCh38)
              2:135107467 (GRCh37)
              Canonical SPDI:
              NC_000002.12:134349895:G:A
              Gene:
              MGAT5 (Varview)
              Functional Consequence:
              missense_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)
              HGVS:
              NC_000002.12:g.134349896G>A, NC_000002.11:g.135107467G>A, NG_030324.1:g.100638G>A, NM_002410.5:c.1204G>A, NM_002410.4:c.1204G>A, NM_001371457.1:c.1204G>A, XM_005263669.6:c.1204G>A, XM_005263669.5:c.1204G>A, XM_005263669.4:c.1204G>A, XM_005263669.3:c.1204G>A, XM_005263669.2:c.1204G>A, XM_005263669.1:c.1204G>A, XM_006712534.4:c.1204G>A, XM_006712534.3:c.1204G>A, XM_006712534.2:c.1204G>A, XM_006712534.1:c.1204G>A, XM_011511199.3:c.1204G>A, XM_011511199.2:c.1204G>A, XM_011511199.1:c.1204G>A, XM_017004147.3:c.1204G>A, XM_017004147.2:c.1204G>A, XM_017004147.1:c.1204G>A, XM_011511201.3:c.1204G>A, XM_011511201.2:c.1204G>A, XM_011511201.1:c.1204G>A, XM_011511202.3:c.1204G>A, XM_011511202.2:c.1204G>A, XM_011511202.1:c.1204G>A, XM_017004148.2:c.1204G>A, XM_017004148.1:c.1204G>A, XM_017004149.2:c.1204G>A, XM_017004149.1:c.1204G>A, XM_047444402.1:c.1204G>A, XM_047444404.1:c.1204G>A, XM_047444395.1:c.1204G>A, XM_047444401.1:c.1204G>A, XM_047444399.1:c.1204G>A, XM_047444396.1:c.1204G>A, XM_047444394.1:c.1204G>A, XM_047444397.1:c.1204G>A, XM_047444400.1:c.1204G>A, XM_047444403.1:c.1204G>A, XM_047444405.1:c.1204G>A, XM_047444398.1:c.1204G>A, XM_047444406.1:c.1204G>A, NP_002401.1:p.Gly402Arg, NP_001358386.1:p.Gly402Arg, XP_005263726.1:p.Gly402Arg, XP_006712597.1:p.Gly402Arg, XP_011509501.1:p.Gly402Arg, XP_016859636.1:p.Gly402Arg, XP_011509503.1:p.Gly402Arg, XP_011509504.1:p.Gly402Arg, XP_016859637.1:p.Gly402Arg, XP_016859638.1:p.Gly402Arg, XP_047300358.1:p.Gly402Arg, XP_047300360.1:p.Gly402Arg, XP_047300351.1:p.Gly402Arg, XP_047300357.1:p.Gly402Arg, XP_047300355.1:p.Gly402Arg, XP_047300352.1:p.Gly402Arg, XP_047300350.1:p.Gly402Arg, XP_047300353.1:p.Gly402Arg, XP_047300356.1:p.Gly402Arg, XP_047300359.1:p.Gly402Arg, XP_047300361.1:p.Gly402Arg, XP_047300354.1:p.Gly402Arg, XP_047300362.1:p.Gly402Arg

              7.

              rs1484363466 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                2:134338381 (GRCh38)
                2:135095952 (GRCh37)
                Canonical SPDI:
                NC_000002.12:134338380:G:T
                Gene:
                MGAT5 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000002.12:g.134338381G>T, NC_000002.11:g.135095952G>T, NG_030324.1:g.89123G>T, NM_002410.5:c.768G>T, NM_002410.4:c.768G>T, NM_001371457.1:c.768G>T, XM_005263669.6:c.768G>T, XM_005263669.5:c.768G>T, XM_005263669.4:c.768G>T, XM_005263669.3:c.768G>T, XM_005263669.2:c.768G>T, XM_005263669.1:c.768G>T, XM_006712534.4:c.768G>T, XM_006712534.3:c.768G>T, XM_006712534.2:c.768G>T, XM_006712534.1:c.768G>T, XM_011511199.3:c.768G>T, XM_011511199.2:c.768G>T, XM_011511199.1:c.768G>T, XM_017004147.3:c.768G>T, XM_017004147.2:c.768G>T, XM_017004147.1:c.768G>T, XM_011511201.3:c.768G>T, XM_011511201.2:c.768G>T, XM_011511201.1:c.768G>T, XM_011511202.3:c.768G>T, XM_011511202.2:c.768G>T, XM_011511202.1:c.768G>T, XM_017004148.2:c.768G>T, XM_017004148.1:c.768G>T, XM_017004149.2:c.768G>T, XM_017004149.1:c.768G>T, XM_047444402.1:c.768G>T, XM_047444404.1:c.768G>T, XM_047444395.1:c.768G>T, XM_047444401.1:c.768G>T, XM_047444399.1:c.768G>T, XM_047444396.1:c.768G>T, XM_047444394.1:c.768G>T, XM_047444397.1:c.768G>T, XM_047444400.1:c.768G>T, XM_047444403.1:c.768G>T, XM_047444405.1:c.768G>T, XM_047444398.1:c.768G>T, XM_047444406.1:c.768G>T

                8.

                rs1482890973 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  2:134412889 (GRCh38)
                  2:135170460 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:134412888:C:A
                  Gene:
                  MGAT5 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,missense_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)
                  HGVS:
                  NC_000002.12:g.134412889C>A, NC_000002.11:g.135170460C>A, NG_030324.1:g.163631C>A, NM_002410.5:c.1551C>A, NM_002410.4:c.1551C>A, NM_001371457.1:c.1551C>A, XM_005263669.6:c.1551C>A, XM_005263669.5:c.1551C>A, XM_005263669.4:c.1551C>A, XM_005263669.3:c.1551C>A, XM_005263669.2:c.1551C>A, XM_005263669.1:c.1551C>A, XM_006712534.4:c.1551C>A, XM_006712534.3:c.1551C>A, XM_006712534.2:c.1551C>A, XM_006712534.1:c.1551C>A, XM_011511199.3:c.1551C>A, XM_011511199.2:c.1551C>A, XM_011511199.1:c.1551C>A, XM_017004147.3:c.1551C>A, XM_017004147.2:c.1551C>A, XM_017004147.1:c.1551C>A, XM_011511201.3:c.1551C>A, XM_011511201.2:c.1551C>A, XM_011511201.1:c.1551C>A, XM_011511202.3:c.1551C>A, XM_011511202.2:c.1551C>A, XM_011511202.1:c.1551C>A, XM_017004148.2:c.1551C>A, XM_017004148.1:c.1551C>A, XM_047444402.1:c.1551C>A, XM_047444404.1:c.1551C>A, XM_047444395.1:c.1551C>A, XM_047444401.1:c.1551C>A, XM_047444399.1:c.1551C>A, XM_047444396.1:c.1551C>A, XM_047444394.1:c.1551C>A, XM_047444397.1:c.1551C>A, XM_047444400.1:c.1551C>A, XM_047444403.1:c.1551C>A, XM_047444405.1:c.1551C>A, XM_047444398.1:c.1551C>A, NP_002401.1:p.Phe517Leu, NP_001358386.1:p.Phe517Leu, XP_005263726.1:p.Phe517Leu, XP_006712597.1:p.Phe517Leu, XP_011509501.1:p.Phe517Leu, XP_016859636.1:p.Phe517Leu, XP_011509503.1:p.Phe517Leu, XP_011509504.1:p.Phe517Leu, XP_016859637.1:p.Phe517Leu, XP_047300358.1:p.Phe517Leu, XP_047300360.1:p.Phe517Leu, XP_047300351.1:p.Phe517Leu, XP_047300357.1:p.Phe517Leu, XP_047300355.1:p.Phe517Leu, XP_047300352.1:p.Phe517Leu, XP_047300350.1:p.Phe517Leu, XP_047300353.1:p.Phe517Leu, XP_047300356.1:p.Phe517Leu, XP_047300359.1:p.Phe517Leu, XP_047300361.1:p.Phe517Leu, XP_047300354.1:p.Phe517Leu

                  9.

                  rs1478963104 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    2:134254494 (GRCh38)
                    2:135012065 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:134254493:C:T
                    Gene:
                    MGAT5 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000011/3 (TOPMED)
                    HGVS:
                    NC_000002.12:g.134254494C>T, NC_000002.11:g.135012065C>T, NG_030324.1:g.5236C>T, NM_002410.5:c.91C>T, NM_002410.4:c.91C>T, NM_001371457.1:c.91C>T, XM_005263669.6:c.91C>T, XM_005263669.5:c.91C>T, XM_005263669.4:c.91C>T, XM_005263669.3:c.91C>T, XM_005263669.2:c.91C>T, XM_005263669.1:c.91C>T, XM_006712534.4:c.91C>T, XM_006712534.3:c.91C>T, XM_006712534.2:c.91C>T, XM_006712534.1:c.91C>T, XM_011511199.3:c.91C>T, XM_011511199.2:c.91C>T, XM_011511199.1:c.91C>T, XM_017004147.3:c.91C>T, XM_017004147.2:c.91C>T, XM_017004147.1:c.91C>T, XM_011511201.3:c.91C>T, XM_011511201.2:c.91C>T, XM_011511201.1:c.91C>T, XM_011511202.3:c.91C>T, XM_011511202.2:c.91C>T, XM_011511202.1:c.91C>T, XM_017004148.2:c.91C>T, XM_017004148.1:c.91C>T, XM_017004149.2:c.91C>T, XM_017004149.1:c.91C>T, XM_047444402.1:c.91C>T, XM_047444404.1:c.91C>T, XM_047444395.1:c.91C>T, XM_047444401.1:c.91C>T, XM_047444399.1:c.91C>T, XM_047444396.1:c.91C>T, XM_047444394.1:c.91C>T, XM_047444397.1:c.91C>T, XM_047444400.1:c.91C>T, XM_047444403.1:c.91C>T, XM_047444405.1:c.91C>T, XM_047444398.1:c.91C>T, XM_047444406.1:c.91C>T, NP_002401.1:p.His31Tyr, NP_001358386.1:p.His31Tyr, XP_005263726.1:p.His31Tyr, XP_006712597.1:p.His31Tyr, XP_011509501.1:p.His31Tyr, XP_016859636.1:p.His31Tyr, XP_011509503.1:p.His31Tyr, XP_011509504.1:p.His31Tyr, XP_016859637.1:p.His31Tyr, XP_016859638.1:p.His31Tyr, XP_047300358.1:p.His31Tyr, XP_047300360.1:p.His31Tyr, XP_047300351.1:p.His31Tyr, XP_047300357.1:p.His31Tyr, XP_047300355.1:p.His31Tyr, XP_047300352.1:p.His31Tyr, XP_047300350.1:p.His31Tyr, XP_047300353.1:p.His31Tyr, XP_047300356.1:p.His31Tyr, XP_047300359.1:p.His31Tyr, XP_047300361.1:p.His31Tyr, XP_047300354.1:p.His31Tyr, XP_047300362.1:p.His31Tyr

                    10.

                    rs1477216183 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      2:134270467 (GRCh38)
                      2:135028038 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:134270466:T:C
                      Gene:
                      MGAT5 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000002.12:g.134270467T>C, NC_000002.11:g.135028038T>C, NG_030324.1:g.21209T>C, NM_002410.5:c.323T>C, NM_002410.4:c.323T>C, NM_001371457.1:c.323T>C, XM_005263669.6:c.323T>C, XM_005263669.5:c.323T>C, XM_005263669.4:c.323T>C, XM_005263669.3:c.323T>C, XM_005263669.2:c.323T>C, XM_005263669.1:c.323T>C, XM_006712534.4:c.323T>C, XM_006712534.3:c.323T>C, XM_006712534.2:c.323T>C, XM_006712534.1:c.323T>C, XM_011511199.3:c.323T>C, XM_011511199.2:c.323T>C, XM_011511199.1:c.323T>C, XM_017004147.3:c.323T>C, XM_017004147.2:c.323T>C, XM_017004147.1:c.323T>C, XM_011511201.3:c.323T>C, XM_011511201.2:c.323T>C, XM_011511201.1:c.323T>C, XM_011511202.3:c.323T>C, XM_011511202.2:c.323T>C, XM_011511202.1:c.323T>C, XM_017004148.2:c.323T>C, XM_017004148.1:c.323T>C, XM_017004149.2:c.323T>C, XM_017004149.1:c.323T>C, XM_047444402.1:c.323T>C, XM_047444404.1:c.323T>C, XM_047444395.1:c.323T>C, XM_047444401.1:c.323T>C, XM_047444399.1:c.323T>C, XM_047444396.1:c.323T>C, XM_047444394.1:c.323T>C, XM_047444397.1:c.323T>C, XM_047444400.1:c.323T>C, XM_047444403.1:c.323T>C, XM_047444405.1:c.323T>C, XM_047444398.1:c.323T>C, XM_047444406.1:c.323T>C, NP_002401.1:p.Val108Ala, NP_001358386.1:p.Val108Ala, XP_005263726.1:p.Val108Ala, XP_006712597.1:p.Val108Ala, XP_011509501.1:p.Val108Ala, XP_016859636.1:p.Val108Ala, XP_011509503.1:p.Val108Ala, XP_011509504.1:p.Val108Ala, XP_016859637.1:p.Val108Ala, XP_016859638.1:p.Val108Ala, XP_047300358.1:p.Val108Ala, XP_047300360.1:p.Val108Ala, XP_047300351.1:p.Val108Ala, XP_047300357.1:p.Val108Ala, XP_047300355.1:p.Val108Ala, XP_047300352.1:p.Val108Ala, XP_047300350.1:p.Val108Ala, XP_047300353.1:p.Val108Ala, XP_047300356.1:p.Val108Ala, XP_047300359.1:p.Val108Ala, XP_047300361.1:p.Val108Ala, XP_047300354.1:p.Val108Ala, XP_047300362.1:p.Val108Ala

                      11.

                      rs1476220150 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        2:134448656 (GRCh38)
                        2:135206227 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:134448655:G:A
                        Gene:
                        MGAT5 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000002.12:g.134448656G>A, NC_000002.11:g.135206227G>A, NG_030324.1:g.199398G>A, NM_002410.5:c.2035G>A, NM_002410.4:c.2035G>A, NM_001371457.1:c.2035G>A, XM_005263669.6:c.2035G>A, XM_005263669.5:c.2035G>A, XM_005263669.4:c.2035G>A, XM_005263669.3:c.2035G>A, XM_005263669.2:c.2035G>A, XM_005263669.1:c.2035G>A, XM_006712534.4:c.2035G>A, XM_006712534.3:c.2035G>A, XM_006712534.2:c.2035G>A, XM_006712534.1:c.2035G>A, XM_011511199.3:c.2035G>A, XM_011511199.2:c.2035G>A, XM_011511199.1:c.2035G>A, XM_017004147.3:c.2035G>A, XM_017004147.2:c.2035G>A, XM_017004147.1:c.2035G>A, XM_011511201.3:c.2035G>A, XM_011511201.2:c.2035G>A, XM_011511201.1:c.2035G>A, XM_011511202.3:c.2035G>A, XM_011511202.2:c.2035G>A, XM_011511202.1:c.2035G>A, XM_017004148.2:c.2035G>A, XM_017004148.1:c.2035G>A, XM_047444402.1:c.2035G>A, XM_047444404.1:c.2035G>A, XM_047444395.1:c.2035G>A, XM_047444401.1:c.2035G>A, XM_047444399.1:c.2035G>A, XM_047444396.1:c.2035G>A, XM_047444394.1:c.2035G>A, XM_047444397.1:c.2035G>A, XM_047444400.1:c.2035G>A, XM_047444403.1:c.2035G>A, XM_047444405.1:c.2035G>A, XM_047444398.1:c.2035G>A, NP_002401.1:p.Val679Met, NP_001358386.1:p.Val679Met, XP_005263726.1:p.Val679Met, XP_006712597.1:p.Val679Met, XP_011509501.1:p.Val679Met, XP_016859636.1:p.Val679Met, XP_011509503.1:p.Val679Met, XP_011509504.1:p.Val679Met, XP_016859637.1:p.Val679Met, XP_047300358.1:p.Val679Met, XP_047300360.1:p.Val679Met, XP_047300351.1:p.Val679Met, XP_047300357.1:p.Val679Met, XP_047300355.1:p.Val679Met, XP_047300352.1:p.Val679Met, XP_047300350.1:p.Val679Met, XP_047300353.1:p.Val679Met, XP_047300356.1:p.Val679Met, XP_047300359.1:p.Val679Met, XP_047300361.1:p.Val679Met, XP_047300354.1:p.Val679Met

                        12.

                        rs1474112766 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          2:134448748 (GRCh38)
                          2:135206319 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:134448747:G:C
                          Gene:
                          MGAT5 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000002.12:g.134448748G>C, NC_000002.11:g.135206319G>C, NG_030324.1:g.199490G>C, NM_002410.5:c.2127G>C, NM_002410.4:c.2127G>C, NM_001371457.1:c.2127G>C, XM_005263669.6:c.2127G>C, XM_005263669.5:c.2127G>C, XM_005263669.4:c.2127G>C, XM_005263669.3:c.2127G>C, XM_005263669.2:c.2127G>C, XM_005263669.1:c.2127G>C, XM_006712534.4:c.2127G>C, XM_006712534.3:c.2127G>C, XM_006712534.2:c.2127G>C, XM_006712534.1:c.2127G>C, XM_011511199.3:c.2127G>C, XM_011511199.2:c.2127G>C, XM_011511199.1:c.2127G>C, XM_017004147.3:c.2127G>C, XM_017004147.2:c.2127G>C, XM_017004147.1:c.2127G>C, XM_011511201.3:c.2127G>C, XM_011511201.2:c.2127G>C, XM_011511201.1:c.2127G>C, XM_011511202.3:c.2127G>C, XM_011511202.2:c.2127G>C, XM_011511202.1:c.2127G>C, XM_017004148.2:c.2127G>C, XM_017004148.1:c.2127G>C, XM_047444402.1:c.2127G>C, XM_047444404.1:c.2127G>C, XM_047444395.1:c.2127G>C, XM_047444401.1:c.2127G>C, XM_047444399.1:c.2127G>C, XM_047444396.1:c.2127G>C, XM_047444394.1:c.2127G>C, XM_047444397.1:c.2127G>C, XM_047444400.1:c.2127G>C, XM_047444403.1:c.2127G>C, XM_047444405.1:c.2127G>C, XM_047444398.1:c.2127G>C

                          13.

                          rs1473889196 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            2:134403061 (GRCh38)
                            2:135160632 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:134403060:A:C
                            Gene:
                            MGAT5 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.000047/1 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.134403061A>C, NC_000002.11:g.135160632A>C, NG_030324.1:g.153803A>C, NM_002410.5:c.1454A>C, NM_002410.4:c.1454A>C, NM_001371457.1:c.1454A>C, XM_005263669.6:c.1454A>C, XM_005263669.5:c.1454A>C, XM_005263669.4:c.1454A>C, XM_005263669.3:c.1454A>C, XM_005263669.2:c.1454A>C, XM_005263669.1:c.1454A>C, XM_006712534.4:c.1454A>C, XM_006712534.3:c.1454A>C, XM_006712534.2:c.1454A>C, XM_006712534.1:c.1454A>C, XM_011511199.3:c.1454A>C, XM_011511199.2:c.1454A>C, XM_011511199.1:c.1454A>C, XM_017004147.3:c.1454A>C, XM_017004147.2:c.1454A>C, XM_017004147.1:c.1454A>C, XM_011511201.3:c.1454A>C, XM_011511201.2:c.1454A>C, XM_011511201.1:c.1454A>C, XM_011511202.3:c.1454A>C, XM_011511202.2:c.1454A>C, XM_011511202.1:c.1454A>C, XM_017004148.2:c.1454A>C, XM_017004148.1:c.1454A>C, XM_047444402.1:c.1454A>C, XM_047444404.1:c.1454A>C, XM_047444395.1:c.1454A>C, XM_047444401.1:c.1454A>C, XM_047444399.1:c.1454A>C, XM_047444396.1:c.1454A>C, XM_047444394.1:c.1454A>C, XM_047444397.1:c.1454A>C, XM_047444400.1:c.1454A>C, XM_047444403.1:c.1454A>C, XM_047444405.1:c.1454A>C, XM_047444398.1:c.1454A>C, NP_002401.1:p.Lys485Thr, NP_001358386.1:p.Lys485Thr, XP_005263726.1:p.Lys485Thr, XP_006712597.1:p.Lys485Thr, XP_011509501.1:p.Lys485Thr, XP_016859636.1:p.Lys485Thr, XP_011509503.1:p.Lys485Thr, XP_011509504.1:p.Lys485Thr, XP_016859637.1:p.Lys485Thr, XP_047300358.1:p.Lys485Thr, XP_047300360.1:p.Lys485Thr, XP_047300351.1:p.Lys485Thr, XP_047300357.1:p.Lys485Thr, XP_047300355.1:p.Lys485Thr, XP_047300352.1:p.Lys485Thr, XP_047300350.1:p.Lys485Thr, XP_047300353.1:p.Lys485Thr, XP_047300356.1:p.Lys485Thr, XP_047300359.1:p.Lys485Thr, XP_047300361.1:p.Lys485Thr, XP_047300354.1:p.Lys485Thr

                            14.

                            rs1473785977 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,C [Show Flanks]
                              Chromosome:
                              2:134336225 (GRCh38)
                              2:135093796 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:134336224:T:A,NC_000002.12:134336224:T:C
                              Gene:
                              MGAT5 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              A=0.000015/4 (TOPMED)
                              A=0.000021/3 (GnomAD)
                              HGVS:
                              NC_000002.12:g.134336225T>A, NC_000002.12:g.134336225T>C, NC_000002.11:g.135093796T>A, NC_000002.11:g.135093796T>C, NG_030324.1:g.86967T>A, NG_030324.1:g.86967T>C, NM_002410.5:c.582T>A, NM_002410.5:c.582T>C, NM_002410.4:c.582T>A, NM_002410.4:c.582T>C, NM_001371457.1:c.582T>A, NM_001371457.1:c.582T>C, XM_005263669.6:c.582T>A, XM_005263669.6:c.582T>C, XM_005263669.5:c.582T>A, XM_005263669.5:c.582T>C, XM_005263669.4:c.582T>A, XM_005263669.4:c.582T>C, XM_005263669.3:c.582T>A, XM_005263669.3:c.582T>C, XM_005263669.2:c.582T>A, XM_005263669.2:c.582T>C, XM_005263669.1:c.582T>A, XM_005263669.1:c.582T>C, XM_006712534.4:c.582T>A, XM_006712534.4:c.582T>C, XM_006712534.3:c.582T>A, XM_006712534.3:c.582T>C, XM_006712534.2:c.582T>A, XM_006712534.2:c.582T>C, XM_006712534.1:c.582T>A, XM_006712534.1:c.582T>C, XM_011511199.3:c.582T>A, XM_011511199.3:c.582T>C, XM_011511199.2:c.582T>A, XM_011511199.2:c.582T>C, XM_011511199.1:c.582T>A, XM_011511199.1:c.582T>C, XM_017004147.3:c.582T>A, XM_017004147.3:c.582T>C, XM_017004147.2:c.582T>A, XM_017004147.2:c.582T>C, XM_017004147.1:c.582T>A, XM_017004147.1:c.582T>C, XM_011511201.3:c.582T>A, XM_011511201.3:c.582T>C, XM_011511201.2:c.582T>A, XM_011511201.2:c.582T>C, XM_011511201.1:c.582T>A, XM_011511201.1:c.582T>C, XM_011511202.3:c.582T>A, XM_011511202.3:c.582T>C, XM_011511202.2:c.582T>A, XM_011511202.2:c.582T>C, XM_011511202.1:c.582T>A, XM_011511202.1:c.582T>C, XM_017004148.2:c.582T>A, XM_017004148.2:c.582T>C, XM_017004148.1:c.582T>A, XM_017004148.1:c.582T>C, XM_017004149.2:c.582T>A, XM_017004149.2:c.582T>C, XM_017004149.1:c.582T>A, XM_017004149.1:c.582T>C, XM_047444402.1:c.582T>A, XM_047444402.1:c.582T>C, XM_047444404.1:c.582T>A, XM_047444404.1:c.582T>C, XM_047444395.1:c.582T>A, XM_047444395.1:c.582T>C, XM_047444401.1:c.582T>A, XM_047444401.1:c.582T>C, XM_047444399.1:c.582T>A, XM_047444399.1:c.582T>C, XM_047444396.1:c.582T>A, XM_047444396.1:c.582T>C, XM_047444394.1:c.582T>A, XM_047444394.1:c.582T>C, XM_047444397.1:c.582T>A, XM_047444397.1:c.582T>C, XM_047444400.1:c.582T>A, XM_047444400.1:c.582T>C, XM_047444403.1:c.582T>A, XM_047444403.1:c.582T>C, XM_047444405.1:c.582T>A, XM_047444405.1:c.582T>C, XM_047444398.1:c.582T>A, XM_047444398.1:c.582T>C, XM_047444406.1:c.582T>A, XM_047444406.1:c.582T>C, NP_002401.1:p.Asn194Lys, NP_001358386.1:p.Asn194Lys, XP_005263726.1:p.Asn194Lys, XP_006712597.1:p.Asn194Lys, XP_011509501.1:p.Asn194Lys, XP_016859636.1:p.Asn194Lys, XP_011509503.1:p.Asn194Lys, XP_011509504.1:p.Asn194Lys, XP_016859637.1:p.Asn194Lys, XP_016859638.1:p.Asn194Lys, XP_047300358.1:p.Asn194Lys, XP_047300360.1:p.Asn194Lys, XP_047300351.1:p.Asn194Lys, XP_047300357.1:p.Asn194Lys, XP_047300355.1:p.Asn194Lys, XP_047300352.1:p.Asn194Lys, XP_047300350.1:p.Asn194Lys, XP_047300353.1:p.Asn194Lys, XP_047300356.1:p.Asn194Lys, XP_047300359.1:p.Asn194Lys, XP_047300361.1:p.Asn194Lys, XP_047300354.1:p.Asn194Lys, XP_047300362.1:p.Asn194Lys

                              15.

                              rs1472963627 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                2:134341613 (GRCh38)
                                2:135099184 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:134341612:G:A
                                Gene:
                                MGAT5 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000002.12:g.134341613G>A, NC_000002.11:g.135099184G>A, NG_030324.1:g.92355G>A, NM_002410.5:c.831G>A, NM_002410.4:c.831G>A, NM_001371457.1:c.831G>A, XM_005263669.6:c.831G>A, XM_005263669.5:c.831G>A, XM_005263669.4:c.831G>A, XM_005263669.3:c.831G>A, XM_005263669.2:c.831G>A, XM_005263669.1:c.831G>A, XM_006712534.4:c.831G>A, XM_006712534.3:c.831G>A, XM_006712534.2:c.831G>A, XM_006712534.1:c.831G>A, XM_011511199.3:c.831G>A, XM_011511199.2:c.831G>A, XM_011511199.1:c.831G>A, XM_017004147.3:c.831G>A, XM_017004147.2:c.831G>A, XM_017004147.1:c.831G>A, XM_011511201.3:c.831G>A, XM_011511201.2:c.831G>A, XM_011511201.1:c.831G>A, XM_011511202.3:c.831G>A, XM_011511202.2:c.831G>A, XM_011511202.1:c.831G>A, XM_017004148.2:c.831G>A, XM_017004148.1:c.831G>A, XM_017004149.2:c.831G>A, XM_017004149.1:c.831G>A, XM_047444402.1:c.831G>A, XM_047444404.1:c.831G>A, XM_047444395.1:c.831G>A, XM_047444401.1:c.831G>A, XM_047444399.1:c.831G>A, XM_047444396.1:c.831G>A, XM_047444394.1:c.831G>A, XM_047444397.1:c.831G>A, XM_047444400.1:c.831G>A, XM_047444403.1:c.831G>A, XM_047444405.1:c.831G>A, XM_047444398.1:c.831G>A, XM_047444406.1:c.831G>A

                                16.

                                rs1468603448 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  2:134336280 (GRCh38)
                                  2:135093851 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:134336279:A:G
                                  Gene:
                                  MGAT5 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000014/2 (GnomAD)
                                  G=0.000015/4 (TOPMED)
                                  HGVS:
                                  NC_000002.12:g.134336280A>G, NC_000002.11:g.135093851A>G, NG_030324.1:g.87022A>G, NM_002410.5:c.637A>G, NM_002410.4:c.637A>G, NM_001371457.1:c.637A>G, XM_005263669.6:c.637A>G, XM_005263669.5:c.637A>G, XM_005263669.4:c.637A>G, XM_005263669.3:c.637A>G, XM_005263669.2:c.637A>G, XM_005263669.1:c.637A>G, XM_006712534.4:c.637A>G, XM_006712534.3:c.637A>G, XM_006712534.2:c.637A>G, XM_006712534.1:c.637A>G, XM_011511199.3:c.637A>G, XM_011511199.2:c.637A>G, XM_011511199.1:c.637A>G, XM_017004147.3:c.637A>G, XM_017004147.2:c.637A>G, XM_017004147.1:c.637A>G, XM_011511201.3:c.637A>G, XM_011511201.2:c.637A>G, XM_011511201.1:c.637A>G, XM_011511202.3:c.637A>G, XM_011511202.2:c.637A>G, XM_011511202.1:c.637A>G, XM_017004148.2:c.637A>G, XM_017004148.1:c.637A>G, XM_017004149.2:c.637A>G, XM_017004149.1:c.637A>G, XM_047444402.1:c.637A>G, XM_047444404.1:c.637A>G, XM_047444395.1:c.637A>G, XM_047444401.1:c.637A>G, XM_047444399.1:c.637A>G, XM_047444396.1:c.637A>G, XM_047444394.1:c.637A>G, XM_047444397.1:c.637A>G, XM_047444400.1:c.637A>G, XM_047444403.1:c.637A>G, XM_047444405.1:c.637A>G, XM_047444398.1:c.637A>G, XM_047444406.1:c.637A>G, NP_002401.1:p.Asn213Asp, NP_001358386.1:p.Asn213Asp, XP_005263726.1:p.Asn213Asp, XP_006712597.1:p.Asn213Asp, XP_011509501.1:p.Asn213Asp, XP_016859636.1:p.Asn213Asp, XP_011509503.1:p.Asn213Asp, XP_011509504.1:p.Asn213Asp, XP_016859637.1:p.Asn213Asp, XP_016859638.1:p.Asn213Asp, XP_047300358.1:p.Asn213Asp, XP_047300360.1:p.Asn213Asp, XP_047300351.1:p.Asn213Asp, XP_047300357.1:p.Asn213Asp, XP_047300355.1:p.Asn213Asp, XP_047300352.1:p.Asn213Asp, XP_047300350.1:p.Asn213Asp, XP_047300353.1:p.Asn213Asp, XP_047300356.1:p.Asn213Asp, XP_047300359.1:p.Asn213Asp, XP_047300361.1:p.Asn213Asp, XP_047300354.1:p.Asn213Asp, XP_047300362.1:p.Asn213Asp

                                  17.

                                  rs1467557367 [Homo sapiens]
                                    Variant type:
                                    INS
                                    Alleles:
                                    ->TCCTTCAAGA [Show Flanks]
                                    Chromosome:
                                    2:134349916 (GRCh38)
                                    2:135107488 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:134349916::TCCTTCAAGA
                                    Gene:
                                    MGAT5 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,frameshift_variant
                                    HGVS:
                                    NC_000002.12:g.134349916_134349917insTCCTTCAAGA, NC_000002.11:g.135107487_135107488insTCCTTCAAGA, NG_030324.1:g.100658_100659insTCCTTCAAGA, NM_002410.5:c.1224_1225insTCCTTCAAGA, NM_002410.4:c.1224_1225insTCCTTCAAGA, NM_001371457.1:c.1224_1225insTCCTTCAAGA, XM_005263669.6:c.1224_1225insTCCTTCAAGA, XM_005263669.5:c.1224_1225insTCCTTCAAGA, XM_005263669.4:c.1224_1225insTCCTTCAAGA, XM_005263669.3:c.1224_1225insTCCTTCAAGA, XM_005263669.2:c.1224_1225insTCCTTCAAGA, XM_005263669.1:c.1224_1225insTCCTTCAAGA, XM_006712534.4:c.1224_1225insTCCTTCAAGA, XM_006712534.3:c.1224_1225insTCCTTCAAGA, XM_006712534.2:c.1224_1225insTCCTTCAAGA, XM_006712534.1:c.1224_1225insTCCTTCAAGA, XM_011511199.3:c.1224_1225insTCCTTCAAGA, XM_011511199.2:c.1224_1225insTCCTTCAAGA, XM_011511199.1:c.1224_1225insTCCTTCAAGA, XM_017004147.3:c.1224_1225insTCCTTCAAGA, XM_017004147.2:c.1224_1225insTCCTTCAAGA, XM_017004147.1:c.1224_1225insTCCTTCAAGA, XM_011511201.3:c.1224_1225insTCCTTCAAGA, XM_011511201.2:c.1224_1225insTCCTTCAAGA, XM_011511201.1:c.1224_1225insTCCTTCAAGA, XM_011511202.3:c.1224_1225insTCCTTCAAGA, XM_011511202.2:c.1224_1225insTCCTTCAAGA, XM_011511202.1:c.1224_1225insTCCTTCAAGA, XM_017004148.2:c.1224_1225insTCCTTCAAGA, XM_017004148.1:c.1224_1225insTCCTTCAAGA, XM_017004149.2:c.1224_1225insTCCTTCAAGA, XM_017004149.1:c.1224_1225insTCCTTCAAGA, XM_047444402.1:c.1224_1225insTCCTTCAAGA, XM_047444404.1:c.1224_1225insTCCTTCAAGA, XM_047444395.1:c.1224_1225insTCCTTCAAGA, XM_047444401.1:c.1224_1225insTCCTTCAAGA, XM_047444399.1:c.1224_1225insTCCTTCAAGA, XM_047444396.1:c.1224_1225insTCCTTCAAGA, XM_047444394.1:c.1224_1225insTCCTTCAAGA, XM_047444397.1:c.1224_1225insTCCTTCAAGA, XM_047444400.1:c.1224_1225insTCCTTCAAGA, XM_047444403.1:c.1224_1225insTCCTTCAAGA, XM_047444405.1:c.1224_1225insTCCTTCAAGA, XM_047444398.1:c.1224_1225insTCCTTCAAGA, XM_047444406.1:c.1224_1225insTCCTTCAAGA, NP_002401.1:p.Gln409fs, NP_001358386.1:p.Gln409fs, XP_005263726.1:p.Gln409fs, XP_006712597.1:p.Gln409fs, XP_011509501.1:p.Gln409fs, XP_016859636.1:p.Gln409fs, XP_011509503.1:p.Gln409fs, XP_011509504.1:p.Gln409fs, XP_016859637.1:p.Gln409fs, XP_016859638.1:p.Gln409fs, XP_047300358.1:p.Gln409fs, XP_047300360.1:p.Gln409fs, XP_047300351.1:p.Gln409fs, XP_047300357.1:p.Gln409fs, XP_047300355.1:p.Gln409fs, XP_047300352.1:p.Gln409fs, XP_047300350.1:p.Gln409fs, XP_047300353.1:p.Gln409fs, XP_047300356.1:p.Gln409fs, XP_047300359.1:p.Gln409fs, XP_047300361.1:p.Gln409fs, XP_047300354.1:p.Gln409fs, XP_047300362.1:p.Gln409fs

                                    18.

                                    rs1464509096 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      2:134338331 (GRCh38)
                                      2:135095902 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:134338330:C:T
                                      Gene:
                                      MGAT5 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000002.12:g.134338331C>T, NC_000002.11:g.135095902C>T, NG_030324.1:g.89073C>T, NM_002410.5:c.718C>T, NM_002410.4:c.718C>T, NM_001371457.1:c.718C>T, XM_005263669.6:c.718C>T, XM_005263669.5:c.718C>T, XM_005263669.4:c.718C>T, XM_005263669.3:c.718C>T, XM_005263669.2:c.718C>T, XM_005263669.1:c.718C>T, XM_006712534.4:c.718C>T, XM_006712534.3:c.718C>T, XM_006712534.2:c.718C>T, XM_006712534.1:c.718C>T, XM_011511199.3:c.718C>T, XM_011511199.2:c.718C>T, XM_011511199.1:c.718C>T, XM_017004147.3:c.718C>T, XM_017004147.2:c.718C>T, XM_017004147.1:c.718C>T, XM_011511201.3:c.718C>T, XM_011511201.2:c.718C>T, XM_011511201.1:c.718C>T, XM_011511202.3:c.718C>T, XM_011511202.2:c.718C>T, XM_011511202.1:c.718C>T, XM_017004148.2:c.718C>T, XM_017004148.1:c.718C>T, XM_017004149.2:c.718C>T, XM_017004149.1:c.718C>T, XM_047444402.1:c.718C>T, XM_047444404.1:c.718C>T, XM_047444395.1:c.718C>T, XM_047444401.1:c.718C>T, XM_047444399.1:c.718C>T, XM_047444396.1:c.718C>T, XM_047444394.1:c.718C>T, XM_047444397.1:c.718C>T, XM_047444400.1:c.718C>T, XM_047444403.1:c.718C>T, XM_047444405.1:c.718C>T, XM_047444398.1:c.718C>T, XM_047444406.1:c.718C>T

                                      19.

                                      rs1460187058 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G [Show Flanks]
                                        Chromosome:
                                        2:134412957 (GRCh38)
                                        2:135170528 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:134412956:A:C,NC_000002.12:134412956:A:G
                                        Gene:
                                        MGAT5 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0.00007/1 (ALFA)
                                        HGVS:
                                        NC_000002.12:g.134412957A>C, NC_000002.12:g.134412957A>G, NC_000002.11:g.135170528A>C, NC_000002.11:g.135170528A>G, NG_030324.1:g.163699A>C, NG_030324.1:g.163699A>G, NM_002410.5:c.1619A>C, NM_002410.5:c.1619A>G, NM_002410.4:c.1619A>C, NM_002410.4:c.1619A>G, NM_001371457.1:c.1619A>C, NM_001371457.1:c.1619A>G, XM_005263669.6:c.1619A>C, XM_005263669.6:c.1619A>G, XM_005263669.5:c.1619A>C, XM_005263669.5:c.1619A>G, XM_005263669.4:c.1619A>C, XM_005263669.4:c.1619A>G, XM_005263669.3:c.1619A>C, XM_005263669.3:c.1619A>G, XM_005263669.2:c.1619A>C, XM_005263669.2:c.1619A>G, XM_005263669.1:c.1619A>C, XM_005263669.1:c.1619A>G, XM_006712534.4:c.1619A>C, XM_006712534.4:c.1619A>G, XM_006712534.3:c.1619A>C, XM_006712534.3:c.1619A>G, XM_006712534.2:c.1619A>C, XM_006712534.2:c.1619A>G, XM_006712534.1:c.1619A>C, XM_006712534.1:c.1619A>G, XM_011511199.3:c.1619A>C, XM_011511199.3:c.1619A>G, XM_011511199.2:c.1619A>C, XM_011511199.2:c.1619A>G, XM_011511199.1:c.1619A>C, XM_011511199.1:c.1619A>G, XM_017004147.3:c.1619A>C, XM_017004147.3:c.1619A>G, XM_017004147.2:c.1619A>C, XM_017004147.2:c.1619A>G, XM_017004147.1:c.1619A>C, XM_017004147.1:c.1619A>G, XM_011511201.3:c.1619A>C, XM_011511201.3:c.1619A>G, XM_011511201.2:c.1619A>C, XM_011511201.2:c.1619A>G, XM_011511201.1:c.1619A>C, XM_011511201.1:c.1619A>G, XM_011511202.3:c.1619A>C, XM_011511202.3:c.1619A>G, XM_011511202.2:c.1619A>C, XM_011511202.2:c.1619A>G, XM_011511202.1:c.1619A>C, XM_011511202.1:c.1619A>G, XM_017004148.2:c.1619A>C, XM_017004148.2:c.1619A>G, XM_017004148.1:c.1619A>C, XM_017004148.1:c.1619A>G, XM_047444402.1:c.1619A>C, XM_047444402.1:c.1619A>G, XM_047444404.1:c.1619A>C, XM_047444404.1:c.1619A>G, XM_047444395.1:c.1619A>C, XM_047444395.1:c.1619A>G, XM_047444401.1:c.1619A>C, XM_047444401.1:c.1619A>G, XM_047444399.1:c.1619A>C, XM_047444399.1:c.1619A>G, XM_047444396.1:c.1619A>C, XM_047444396.1:c.1619A>G, XM_047444394.1:c.1619A>C, XM_047444394.1:c.1619A>G, XM_047444397.1:c.1619A>C, XM_047444397.1:c.1619A>G, XM_047444400.1:c.1619A>C, XM_047444400.1:c.1619A>G, XM_047444403.1:c.1619A>C, XM_047444403.1:c.1619A>G, XM_047444405.1:c.1619A>C, XM_047444405.1:c.1619A>G, XM_047444398.1:c.1619A>C, XM_047444398.1:c.1619A>G, NP_002401.1:p.Asn540Thr, NP_002401.1:p.Asn540Ser, NP_001358386.1:p.Asn540Thr, NP_001358386.1:p.Asn540Ser, XP_005263726.1:p.Asn540Thr, XP_005263726.1:p.Asn540Ser, XP_006712597.1:p.Asn540Thr, XP_006712597.1:p.Asn540Ser, XP_011509501.1:p.Asn540Thr, XP_011509501.1:p.Asn540Ser, XP_016859636.1:p.Asn540Thr, XP_016859636.1:p.Asn540Ser, XP_011509503.1:p.Asn540Thr, XP_011509503.1:p.Asn540Ser, XP_011509504.1:p.Asn540Thr, XP_011509504.1:p.Asn540Ser, XP_016859637.1:p.Asn540Thr, XP_016859637.1:p.Asn540Ser, XP_047300358.1:p.Asn540Thr, XP_047300358.1:p.Asn540Ser, XP_047300360.1:p.Asn540Thr, XP_047300360.1:p.Asn540Ser, XP_047300351.1:p.Asn540Thr, XP_047300351.1:p.Asn540Ser, XP_047300357.1:p.Asn540Thr, XP_047300357.1:p.Asn540Ser, XP_047300355.1:p.Asn540Thr, XP_047300355.1:p.Asn540Ser, XP_047300352.1:p.Asn540Thr, XP_047300352.1:p.Asn540Ser, XP_047300350.1:p.Asn540Thr, XP_047300350.1:p.Asn540Ser, XP_047300353.1:p.Asn540Thr, XP_047300353.1:p.Asn540Ser, XP_047300356.1:p.Asn540Thr, XP_047300356.1:p.Asn540Ser, XP_047300359.1:p.Asn540Thr, XP_047300359.1:p.Asn540Ser, XP_047300361.1:p.Asn540Thr, XP_047300361.1:p.Asn540Ser, XP_047300354.1:p.Asn540Thr, XP_047300354.1:p.Asn540Ser

                                        20.

                                        rs1454730431 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G,T [Show Flanks]
                                          Chromosome:
                                          2:134338271 (GRCh38)
                                          2:135095842 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:134338270:A:G,NC_000002.12:134338270:A:T
                                          Gene:
                                          MGAT5 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000002.12:g.134338271A>G, NC_000002.12:g.134338271A>T, NC_000002.11:g.135095842A>G, NC_000002.11:g.135095842A>T, NG_030324.1:g.89013A>G, NG_030324.1:g.89013A>T, NM_002410.5:c.658A>G, NM_002410.5:c.658A>T, NM_002410.4:c.658A>G, NM_002410.4:c.658A>T, NM_001371457.1:c.658A>G, NM_001371457.1:c.658A>T, XM_005263669.6:c.658A>G, XM_005263669.6:c.658A>T, XM_005263669.5:c.658A>G, XM_005263669.5:c.658A>T, XM_005263669.4:c.658A>G, XM_005263669.4:c.658A>T, XM_005263669.3:c.658A>G, XM_005263669.3:c.658A>T, XM_005263669.2:c.658A>G, XM_005263669.2:c.658A>T, XM_005263669.1:c.658A>G, XM_005263669.1:c.658A>T, XM_006712534.4:c.658A>G, XM_006712534.4:c.658A>T, XM_006712534.3:c.658A>G, XM_006712534.3:c.658A>T, XM_006712534.2:c.658A>G, XM_006712534.2:c.658A>T, XM_006712534.1:c.658A>G, XM_006712534.1:c.658A>T, XM_011511199.3:c.658A>G, XM_011511199.3:c.658A>T, XM_011511199.2:c.658A>G, XM_011511199.2:c.658A>T, XM_011511199.1:c.658A>G, XM_011511199.1:c.658A>T, XM_017004147.3:c.658A>G, XM_017004147.3:c.658A>T, XM_017004147.2:c.658A>G, XM_017004147.2:c.658A>T, XM_017004147.1:c.658A>G, XM_017004147.1:c.658A>T, XM_011511201.3:c.658A>G, XM_011511201.3:c.658A>T, XM_011511201.2:c.658A>G, XM_011511201.2:c.658A>T, XM_011511201.1:c.658A>G, XM_011511201.1:c.658A>T, XM_011511202.3:c.658A>G, XM_011511202.3:c.658A>T, XM_011511202.2:c.658A>G, XM_011511202.2:c.658A>T, XM_011511202.1:c.658A>G, XM_011511202.1:c.658A>T, XM_017004148.2:c.658A>G, XM_017004148.2:c.658A>T, XM_017004148.1:c.658A>G, XM_017004148.1:c.658A>T, XM_017004149.2:c.658A>G, XM_017004149.2:c.658A>T, XM_017004149.1:c.658A>G, XM_017004149.1:c.658A>T, XM_047444402.1:c.658A>G, XM_047444402.1:c.658A>T, XM_047444404.1:c.658A>G, XM_047444404.1:c.658A>T, XM_047444395.1:c.658A>G, XM_047444395.1:c.658A>T, XM_047444401.1:c.658A>G, XM_047444401.1:c.658A>T, XM_047444399.1:c.658A>G, XM_047444399.1:c.658A>T, XM_047444396.1:c.658A>G, XM_047444396.1:c.658A>T, XM_047444394.1:c.658A>G, XM_047444394.1:c.658A>T, XM_047444397.1:c.658A>G, XM_047444397.1:c.658A>T, XM_047444400.1:c.658A>G, XM_047444400.1:c.658A>T, XM_047444403.1:c.658A>G, XM_047444403.1:c.658A>T, XM_047444405.1:c.658A>G, XM_047444405.1:c.658A>T, XM_047444398.1:c.658A>G, XM_047444398.1:c.658A>T, XM_047444406.1:c.658A>G, XM_047444406.1:c.658A>T, NP_002401.1:p.Thr220Ala, NP_002401.1:p.Thr220Ser, NP_001358386.1:p.Thr220Ala, NP_001358386.1:p.Thr220Ser, XP_005263726.1:p.Thr220Ala, XP_005263726.1:p.Thr220Ser, XP_006712597.1:p.Thr220Ala, XP_006712597.1:p.Thr220Ser, XP_011509501.1:p.Thr220Ala, XP_011509501.1:p.Thr220Ser, XP_016859636.1:p.Thr220Ala, XP_016859636.1:p.Thr220Ser, XP_011509503.1:p.Thr220Ala, XP_011509503.1:p.Thr220Ser, XP_011509504.1:p.Thr220Ala, XP_011509504.1:p.Thr220Ser, XP_016859637.1:p.Thr220Ala, XP_016859637.1:p.Thr220Ser, XP_016859638.1:p.Thr220Ala, XP_016859638.1:p.Thr220Ser, XP_047300358.1:p.Thr220Ala, XP_047300358.1:p.Thr220Ser, XP_047300360.1:p.Thr220Ala, XP_047300360.1:p.Thr220Ser, XP_047300351.1:p.Thr220Ala, XP_047300351.1:p.Thr220Ser, XP_047300357.1:p.Thr220Ala, XP_047300357.1:p.Thr220Ser, XP_047300355.1:p.Thr220Ala, XP_047300355.1:p.Thr220Ser, XP_047300352.1:p.Thr220Ala, XP_047300352.1:p.Thr220Ser, XP_047300350.1:p.Thr220Ala, XP_047300350.1:p.Thr220Ser, XP_047300353.1:p.Thr220Ala, XP_047300353.1:p.Thr220Ser, XP_047300356.1:p.Thr220Ala, XP_047300356.1:p.Thr220Ser, XP_047300359.1:p.Thr220Ala, XP_047300359.1:p.Thr220Ser, XP_047300361.1:p.Thr220Ala, XP_047300361.1:p.Thr220Ser, XP_047300354.1:p.Thr220Ala, XP_047300354.1:p.Thr220Ser, XP_047300362.1:p.Thr220Ala, XP_047300362.1:p.Thr220Ser

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