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Items: 1 to 20 of 284

1.

rs1490383680 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    4:140461997 (GRCh38)
    4:141383151 (GRCh37)
    Canonical SPDI:
    NC_000004.12:140461996:T:C
    Gene:
    MGAT4D (Varview)
    Functional Consequence:
    intron_variant,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_000004.12:g.140461997T>C, NC_000004.11:g.141383151T>C, XM_011531653.4:c.646A>G, XM_011531653.3:c.646A>G, XM_011531653.2:c.646A>G, XM_011531653.1:c.646A>G, XM_011531650.4:c.694A>G, XM_011531650.3:c.694A>G, XM_011531650.2:c.694A>G, XM_011531650.1:c.694A>G, XM_011531654.4:c.694A>G, XM_011531654.3:c.694A>G, XM_011531654.2:c.694A>G, XM_011531654.1:c.694A>G, XM_011531656.4:c.556A>G, XM_011531656.3:c.556A>G, XM_011531656.2:c.556A>G, XM_011531656.1:c.556A>G, XM_011531657.4:c.550A>G, XM_011531657.3:c.550A>G, XM_011531657.2:c.550A>G, XM_011531657.1:c.550A>G, XM_011531658.4:c.397A>G, XM_011531658.3:c.397A>G, XM_011531658.2:c.397A>G, XM_011531658.1:c.397A>G, XM_011531665.4:c.136A>G, XM_011531665.3:c.136A>G, XM_011531665.2:c.136A>G, XM_011531665.1:c.136A>G, XM_011531652.3:c.646A>G, XM_011531652.2:c.646A>G, XM_011531652.1:c.646A>G, XM_011531651.3:c.646A>G, XM_011531651.2:c.646A>G, XM_011531651.1:c.646A>G, XM_011531664.3:c.136A>G, XM_011531664.2:c.136A>G, XM_011531664.1:c.136A>G, XR_938697.3:n.949A>G, XR_938697.2:n.1702A>G, XR_938697.1:n.2485A>G, XM_011531659.3:c.694A>G, XM_011531659.2:c.694A>G, XM_011531659.1:c.694A>G, NM_001277353.2:c.694A>G, NM_001277353.1:c.694A>G, XM_047449648.1:c.136A>G, NM_001034840.1:c.-2940A>G, XP_011529955.1:p.Ile216Val, XP_011529952.1:p.Ile232Val, XP_011529956.1:p.Ile232Val, XP_011529958.1:p.Ile186Val, XP_011529959.1:p.Ile184Val, XP_011529960.1:p.Ile133Val, XP_011529967.1:p.Ile46Val, XP_011529954.1:p.Ile216Val, XP_011529953.1:p.Ile216Val, XP_011529966.1:p.Ile46Val, XP_011529961.1:p.Ile232Val, NP_001264282.1:p.Ile232Val, XP_047305604.1:p.Ile46Val

    2.

    rs1487175003 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      4:140464991 (GRCh38)
      4:141386145 (GRCh37)
      Canonical SPDI:
      NC_000004.12:140464990:C:A,NC_000004.12:140464990:C:T
      Gene:
      MGAT4D (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      A=0.000019/5 (TOPMED)
      A=0.000022/3 (GnomAD_exomes)
      HGVS:
      NC_000004.12:g.140464991C>A, NC_000004.12:g.140464991C>T, NC_000004.11:g.141386145C>A, NC_000004.11:g.141386145C>T, XM_011531653.4:c.543G>T, XM_011531653.4:c.543G>A, XM_011531653.3:c.543G>T, XM_011531653.3:c.543G>A, XM_011531653.2:c.543G>T, XM_011531653.2:c.543G>A, XM_011531653.1:c.543G>T, XM_011531653.1:c.543G>A, XM_011531650.4:c.591G>T, XM_011531650.4:c.591G>A, XM_011531650.3:c.591G>T, XM_011531650.3:c.591G>A, XM_011531650.2:c.591G>T, XM_011531650.2:c.591G>A, XM_011531650.1:c.591G>T, XM_011531650.1:c.591G>A, XM_011531654.4:c.591G>T, XM_011531654.4:c.591G>A, XM_011531654.3:c.591G>T, XM_011531654.3:c.591G>A, XM_011531654.2:c.591G>T, XM_011531654.2:c.591G>A, XM_011531654.1:c.591G>T, XM_011531654.1:c.591G>A, XM_011531656.4:c.453G>T, XM_011531656.4:c.453G>A, XM_011531656.3:c.453G>T, XM_011531656.3:c.453G>A, XM_011531656.2:c.453G>T, XM_011531656.2:c.453G>A, XM_011531656.1:c.453G>T, XM_011531656.1:c.453G>A, XM_011531657.4:c.447G>T, XM_011531657.4:c.447G>A, XM_011531657.3:c.447G>T, XM_011531657.3:c.447G>A, XM_011531657.2:c.447G>T, XM_011531657.2:c.447G>A, XM_011531657.1:c.447G>T, XM_011531657.1:c.447G>A, XM_011531658.4:c.294G>T, XM_011531658.4:c.294G>A, XM_011531658.3:c.294G>T, XM_011531658.3:c.294G>A, XM_011531658.2:c.294G>T, XM_011531658.2:c.294G>A, XM_011531658.1:c.294G>T, XM_011531658.1:c.294G>A, XM_011531665.4:c.33G>T, XM_011531665.4:c.33G>A, XM_011531665.3:c.33G>T, XM_011531665.3:c.33G>A, XM_011531665.2:c.33G>T, XM_011531665.2:c.33G>A, XM_011531665.1:c.33G>T, XM_011531665.1:c.33G>A, XM_011531652.3:c.543G>T, XM_011531652.3:c.543G>A, XM_011531652.2:c.543G>T, XM_011531652.2:c.543G>A, XM_011531652.1:c.543G>T, XM_011531652.1:c.543G>A, XM_011531651.3:c.543G>T, XM_011531651.3:c.543G>A, XM_011531651.2:c.543G>T, XM_011531651.2:c.543G>A, XM_011531651.1:c.543G>T, XM_011531651.1:c.543G>A, XM_011531664.3:c.33G>T, XM_011531664.3:c.33G>A, XM_011531664.2:c.33G>T, XM_011531664.2:c.33G>A, XM_011531664.1:c.33G>T, XM_011531664.1:c.33G>A, XR_938697.3:n.662G>T, XR_938697.3:n.662G>A, XR_938697.2:n.1415G>T, XR_938697.2:n.1415G>A, XR_938697.1:n.2198G>T, XR_938697.1:n.2198G>A, XM_011531659.3:c.591G>T, XM_011531659.3:c.591G>A, XM_011531659.2:c.591G>T, XM_011531659.2:c.591G>A, XM_011531659.1:c.591G>T, XM_011531659.1:c.591G>A, XM_011531661.3:c.591G>T, XM_011531661.3:c.591G>A, XM_011531661.2:c.591G>T, XM_011531661.2:c.591G>A, XM_011531661.1:c.591G>T, XM_011531661.1:c.591G>A, NM_001277353.2:c.591G>T, NM_001277353.2:c.591G>A, NM_001277353.1:c.591G>T, NM_001277353.1:c.591G>A, XM_047449648.1:c.33G>T, XM_047449648.1:c.33G>A, NM_001034840.1:c.-3227G>T, NM_001034840.1:c.-3227G>A, XP_011529955.1:p.Arg181Ser, XP_011529952.1:p.Arg197Ser, XP_011529956.1:p.Arg197Ser, XP_011529958.1:p.Arg151Ser, XP_011529959.1:p.Arg149Ser, XP_011529960.1:p.Arg98Ser, XP_011529967.1:p.Arg11Ser, XP_011529954.1:p.Arg181Ser, XP_011529953.1:p.Arg181Ser, XP_011529966.1:p.Arg11Ser, XP_011529961.1:p.Arg197Ser, XP_011529963.1:p.Arg197Ser, NP_001264282.1:p.Arg197Ser, XP_047305604.1:p.Arg11Ser

      3.

      rs1485784928 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        4:140459600 (GRCh38)
        4:141380754 (GRCh37)
        Canonical SPDI:
        NC_000004.12:140459599:C:T
        Gene:
        MGAT4D (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000004.12:g.140459600C>T, NC_000004.11:g.141380754C>T, XM_011531653.4:c.741G>A, XM_011531653.3:c.741G>A, XM_011531653.2:c.741G>A, XM_011531653.1:c.741G>A, XM_011531650.4:c.789G>A, XM_011531650.3:c.789G>A, XM_011531650.2:c.789G>A, XM_011531650.1:c.789G>A, XM_011531654.4:c.789G>A, XM_011531654.3:c.789G>A, XM_011531654.2:c.789G>A, XM_011531654.1:c.789G>A, XM_011531656.4:c.651G>A, XM_011531656.3:c.651G>A, XM_011531656.2:c.651G>A, XM_011531656.1:c.651G>A, XM_011531657.4:c.645G>A, XM_011531657.3:c.645G>A, XM_011531657.2:c.645G>A, XM_011531657.1:c.645G>A, XM_011531658.4:c.492G>A, XM_011531658.3:c.492G>A, XM_011531658.2:c.492G>A, XM_011531658.1:c.492G>A, XM_011531665.4:c.231G>A, XM_011531665.3:c.231G>A, XM_011531665.2:c.231G>A, XM_011531665.1:c.231G>A, XM_011531652.3:c.741G>A, XM_011531652.2:c.741G>A, XM_011531652.1:c.741G>A, XM_011531651.3:c.741G>A, XM_011531651.2:c.741G>A, XM_011531651.1:c.741G>A, XM_011531664.3:c.231G>A, XM_011531664.2:c.231G>A, XM_011531664.1:c.231G>A, NM_001277353.2:c.789G>A, NM_001277353.1:c.789G>A, XM_047449648.1:c.231G>A, NM_001034840.1:c.-2845G>A

        4.

        rs1485573115 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          C>-,CC [Show Flanks]
          Chromosome:
          4:140479507 (GRCh38)
          4:141400661 (GRCh37)
          Canonical SPDI:
          NC_000004.12:140479506:CC:C,NC_000004.12:140479506:CC:CCC
          Gene:
          MGAT4D (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          CCC=0.000071/1 (ALFA)
          -=0.000038/10 (TOPMED)
          -=0.000073/3 (GnomAD_exomes)
          HGVS:
          NC_000004.12:g.140479508del, NC_000004.12:g.140479508dup, NC_000004.11:g.141400662del, NC_000004.11:g.141400662dup, XM_011531653.4:c.326del, XM_011531653.4:c.326dup, XM_011531653.3:c.326del, XM_011531653.3:c.326dup, XM_011531653.2:c.326del, XM_011531653.2:c.326dup, XM_011531653.1:c.326del, XM_011531653.1:c.326dup, XM_011531650.4:c.374del, XM_011531650.4:c.374dup, XM_011531650.3:c.374del, XM_011531650.3:c.374dup, XM_011531650.2:c.374del, XM_011531650.2:c.374dup, XM_011531650.1:c.374del, XM_011531650.1:c.374dup, XM_011531654.4:c.374del, XM_011531654.4:c.374dup, XM_011531654.3:c.374del, XM_011531654.3:c.374dup, XM_011531654.2:c.374del, XM_011531654.2:c.374dup, XM_011531654.1:c.374del, XM_011531654.1:c.374dup, XM_011531657.4:c.230del, XM_011531657.4:c.230dup, XM_011531657.3:c.230del, XM_011531657.3:c.230dup, XM_011531657.2:c.230del, XM_011531657.2:c.230dup, XM_011531657.1:c.230del, XM_011531657.1:c.230dup, XM_011531652.3:c.326del, XM_011531652.3:c.326dup, XM_011531652.2:c.326del, XM_011531652.2:c.326dup, XM_011531652.1:c.326del, XM_011531652.1:c.326dup, XM_011531651.3:c.326del, XM_011531651.3:c.326dup, XM_011531651.2:c.326del, XM_011531651.2:c.326dup, XM_011531651.1:c.326del, XM_011531651.1:c.326dup, XR_938697.3:n.445del, XR_938697.3:n.445dup, XR_938697.2:n.1198del, XR_938697.2:n.1198dup, XR_938697.1:n.1981del, XR_938697.1:n.1981dup, XM_011531659.3:c.374del, XM_011531659.3:c.374dup, XM_011531659.2:c.374del, XM_011531659.2:c.374dup, XM_011531659.1:c.374del, XM_011531659.1:c.374dup, XM_011531661.3:c.374del, XM_011531661.3:c.374dup, XM_011531661.2:c.374del, XM_011531661.2:c.374dup, XM_011531661.1:c.374del, XM_011531661.1:c.374dup, XM_011531662.3:c.374del, XM_011531662.3:c.374dup, XM_011531662.2:c.374del, XM_011531662.2:c.374dup, XM_011531662.1:c.374del, XM_011531662.1:c.374dup, NM_001277353.2:c.374del, NM_001277353.2:c.374dup, NM_001277353.1:c.374del, NM_001277353.1:c.374dup, XP_011529955.1:p.Gly109fs, XP_011529955.1:p.Lys110fs, XP_011529952.1:p.Gly125fs, XP_011529952.1:p.Lys126fs, XP_011529956.1:p.Gly125fs, XP_011529956.1:p.Lys126fs, XP_011529959.1:p.Gly77fs, XP_011529959.1:p.Lys78fs, XP_011529954.1:p.Gly109fs, XP_011529954.1:p.Lys110fs, XP_011529953.1:p.Gly109fs, XP_011529953.1:p.Lys110fs, XP_011529961.1:p.Gly125fs, XP_011529961.1:p.Lys126fs, XP_011529963.1:p.Gly125fs, XP_011529963.1:p.Lys126fs, XP_011529964.1:p.Gly125fs, XP_011529964.1:p.Lys126fs, NP_001264282.1:p.Gly125fs, NP_001264282.1:p.Lys126fs

          5.

          rs1485113347 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            4:140465002 (GRCh38)
            4:141386156 (GRCh37)
            Canonical SPDI:
            NC_000004.12:140465001:T:G
            Gene:
            MGAT4D (Varview)
            Functional Consequence:
            intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD_exomes)
            HGVS:
            NC_000004.12:g.140465002T>G, NC_000004.11:g.141386156T>G, XM_011531653.4:c.532A>C, XM_011531653.3:c.532A>C, XM_011531653.2:c.532A>C, XM_011531653.1:c.532A>C, XM_011531650.4:c.580A>C, XM_011531650.3:c.580A>C, XM_011531650.2:c.580A>C, XM_011531650.1:c.580A>C, XM_011531654.4:c.580A>C, XM_011531654.3:c.580A>C, XM_011531654.2:c.580A>C, XM_011531654.1:c.580A>C, XM_011531656.4:c.442A>C, XM_011531656.3:c.442A>C, XM_011531656.2:c.442A>C, XM_011531656.1:c.442A>C, XM_011531657.4:c.436A>C, XM_011531657.3:c.436A>C, XM_011531657.2:c.436A>C, XM_011531657.1:c.436A>C, XM_011531658.4:c.283A>C, XM_011531658.3:c.283A>C, XM_011531658.2:c.283A>C, XM_011531658.1:c.283A>C, XM_011531665.4:c.22A>C, XM_011531665.3:c.22A>C, XM_011531665.2:c.22A>C, XM_011531665.1:c.22A>C, XM_011531652.3:c.532A>C, XM_011531652.2:c.532A>C, XM_011531652.1:c.532A>C, XM_011531651.3:c.532A>C, XM_011531651.2:c.532A>C, XM_011531651.1:c.532A>C, XM_011531664.3:c.22A>C, XM_011531664.2:c.22A>C, XM_011531664.1:c.22A>C, XR_938697.3:n.651A>C, XR_938697.2:n.1404A>C, XR_938697.1:n.2187A>C, XM_011531659.3:c.580A>C, XM_011531659.2:c.580A>C, XM_011531659.1:c.580A>C, XM_011531661.3:c.580A>C, XM_011531661.2:c.580A>C, XM_011531661.1:c.580A>C, NM_001277353.2:c.580A>C, NM_001277353.1:c.580A>C, XM_047449648.1:c.22A>C, NM_001034840.1:c.-3238A>C

            6.

            rs1478275541 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C,G [Show Flanks]
              Chromosome:
              4:140479525 (GRCh38)
              4:141400679 (GRCh37)
              Canonical SPDI:
              NC_000004.12:140479524:T:C,NC_000004.12:140479524:T:G
              Gene:
              MGAT4D (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              HGVS:
              NC_000004.12:g.140479525T>C, NC_000004.12:g.140479525T>G, NC_000004.11:g.141400679T>C, NC_000004.11:g.141400679T>G, XM_011531653.4:c.308A>G, XM_011531653.4:c.308A>C, XM_011531653.3:c.308A>G, XM_011531653.3:c.308A>C, XM_011531653.2:c.308A>G, XM_011531653.2:c.308A>C, XM_011531653.1:c.308A>G, XM_011531653.1:c.308A>C, XM_011531650.4:c.356A>G, XM_011531650.4:c.356A>C, XM_011531650.3:c.356A>G, XM_011531650.3:c.356A>C, XM_011531650.2:c.356A>G, XM_011531650.2:c.356A>C, XM_011531650.1:c.356A>G, XM_011531650.1:c.356A>C, XM_011531654.4:c.356A>G, XM_011531654.4:c.356A>C, XM_011531654.3:c.356A>G, XM_011531654.3:c.356A>C, XM_011531654.2:c.356A>G, XM_011531654.2:c.356A>C, XM_011531654.1:c.356A>G, XM_011531654.1:c.356A>C, XM_011531657.4:c.212A>G, XM_011531657.4:c.212A>C, XM_011531657.3:c.212A>G, XM_011531657.3:c.212A>C, XM_011531657.2:c.212A>G, XM_011531657.2:c.212A>C, XM_011531657.1:c.212A>G, XM_011531657.1:c.212A>C, XM_011531652.3:c.308A>G, XM_011531652.3:c.308A>C, XM_011531652.2:c.308A>G, XM_011531652.2:c.308A>C, XM_011531652.1:c.308A>G, XM_011531652.1:c.308A>C, XM_011531651.3:c.308A>G, XM_011531651.3:c.308A>C, XM_011531651.2:c.308A>G, XM_011531651.2:c.308A>C, XM_011531651.1:c.308A>G, XM_011531651.1:c.308A>C, XR_938697.3:n.427A>G, XR_938697.3:n.427A>C, XR_938697.2:n.1180A>G, XR_938697.2:n.1180A>C, XR_938697.1:n.1963A>G, XR_938697.1:n.1963A>C, XM_011531659.3:c.356A>G, XM_011531659.3:c.356A>C, XM_011531659.2:c.356A>G, XM_011531659.2:c.356A>C, XM_011531659.1:c.356A>G, XM_011531659.1:c.356A>C, XM_011531661.3:c.356A>G, XM_011531661.3:c.356A>C, XM_011531661.2:c.356A>G, XM_011531661.2:c.356A>C, XM_011531661.1:c.356A>G, XM_011531661.1:c.356A>C, XM_011531662.3:c.356A>G, XM_011531662.3:c.356A>C, XM_011531662.2:c.356A>G, XM_011531662.2:c.356A>C, XM_011531662.1:c.356A>G, XM_011531662.1:c.356A>C, NM_001277353.2:c.356A>G, NM_001277353.2:c.356A>C, NM_001277353.1:c.356A>G, NM_001277353.1:c.356A>C, XP_011529955.1:p.Tyr103Cys, XP_011529955.1:p.Tyr103Ser, XP_011529952.1:p.Tyr119Cys, XP_011529952.1:p.Tyr119Ser, XP_011529956.1:p.Tyr119Cys, XP_011529956.1:p.Tyr119Ser, XP_011529959.1:p.Tyr71Cys, XP_011529959.1:p.Tyr71Ser, XP_011529954.1:p.Tyr103Cys, XP_011529954.1:p.Tyr103Ser, XP_011529953.1:p.Tyr103Cys, XP_011529953.1:p.Tyr103Ser, XP_011529961.1:p.Tyr119Cys, XP_011529961.1:p.Tyr119Ser, XP_011529963.1:p.Tyr119Cys, XP_011529963.1:p.Tyr119Ser, XP_011529964.1:p.Tyr119Cys, XP_011529964.1:p.Tyr119Ser, NP_001264282.1:p.Tyr119Cys, NP_001264282.1:p.Tyr119Ser

              7.

              rs1476670730 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                4:140498145 (GRCh38)
                4:141419299 (GRCh37)
                Canonical SPDI:
                NC_000004.12:140498144:G:T
                Gene:
                MGAT4D (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant,stop_gained,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD_exomes)
                HGVS:
                NC_000004.12:g.140498145G>T, NC_000004.11:g.141419299G>T, XM_011531653.4:c.-178C>A, XM_011531653.3:c.-178C>A, XM_011531653.2:c.-178C>A, XM_011531653.1:c.-178C>A, XM_011531650.4:c.78C>A, XM_011531650.3:c.78C>A, XM_011531650.2:c.78C>A, XM_011531650.1:c.78C>A, XM_011531654.4:c.78C>A, XM_011531654.3:c.78C>A, XM_011531654.2:c.78C>A, XM_011531654.1:c.78C>A, XM_011531656.4:c.78C>A, XM_011531656.3:c.78C>A, XM_011531656.2:c.78C>A, XM_011531656.1:c.78C>A, XM_011531658.4:c.78C>A, XM_011531658.3:c.78C>A, XM_011531658.2:c.78C>A, XM_011531658.1:c.78C>A, XM_011531665.4:c.-50C>A, XM_011531665.3:c.-50C>A, XM_011531665.2:c.-50C>A, XM_011531665.1:c.-50C>A, XM_011531652.3:c.-229C>A, XM_011531652.2:c.-229C>A, XM_011531652.1:c.-229C>A, XR_938697.3:n.149C>A, XR_938697.2:n.902C>A, XR_938697.1:n.1685C>A, XM_011531659.3:c.78C>A, XM_011531659.2:c.78C>A, XM_011531659.1:c.78C>A, XM_011531661.3:c.78C>A, XM_011531661.2:c.78C>A, XM_011531661.1:c.78C>A, XM_011531662.3:c.78C>A, XM_011531662.2:c.78C>A, XM_011531662.1:c.78C>A, NM_001277353.2:c.78C>A, NM_001277353.1:c.78C>A, NM_001034840.1:c.-3309C>A, XP_011529952.1:p.Tyr26Ter, XP_011529956.1:p.Tyr26Ter, XP_011529958.1:p.Tyr26Ter, XP_011529960.1:p.Tyr26Ter, XP_011529961.1:p.Tyr26Ter, XP_011529963.1:p.Tyr26Ter, XP_011529964.1:p.Tyr26Ter, NP_001264282.1:p.Tyr26Ter

                8.

                rs1474679743 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TG>- [Show Flanks]
                  Chromosome:
                  4:140464910 (GRCh38)
                  4:141386064 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:140464907:TGTG:TG
                  Gene:
                  MGAT4D (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TGTG=0.000043/1 (ALFA)
                  -=0.000008/2 (TOPMED)
                  -=0.000014/2 (GnomAD)
                  -=0.000022/3 (GnomAD_exomes)
                  HGVS:
                  NC_000004.12:g.140464908TG[1], NC_000004.11:g.141386062TG[1], XM_011531653.4:c.625_626del, XM_011531653.3:c.625_626del, XM_011531653.2:c.625_626del, XM_011531653.1:c.625_626del, XM_011531650.4:c.673_674del, XM_011531650.3:c.673_674del, XM_011531650.2:c.673_674del, XM_011531650.1:c.673_674del, XM_011531654.4:c.673_674del, XM_011531654.3:c.673_674del, XM_011531654.2:c.673_674del, XM_011531654.1:c.673_674del, XM_011531656.4:c.535_536del, XM_011531656.3:c.535_536del, XM_011531656.2:c.535_536del, XM_011531656.1:c.535_536del, XM_011531657.4:c.529_530del, XM_011531657.3:c.529_530del, XM_011531657.2:c.529_530del, XM_011531657.1:c.529_530del, XM_011531658.4:c.376_377del, XM_011531658.3:c.376_377del, XM_011531658.2:c.376_377del, XM_011531658.1:c.376_377del, XM_011531665.4:c.115_116del, XM_011531665.3:c.115_116del, XM_011531665.2:c.115_116del, XM_011531665.1:c.115_116del, XM_011531652.3:c.625_626del, XM_011531652.2:c.625_626del, XM_011531652.1:c.625_626del, XM_011531651.3:c.625_626del, XM_011531651.2:c.625_626del, XM_011531651.1:c.625_626del, XM_011531664.3:c.115_116del, XM_011531664.2:c.115_116del, XM_011531664.1:c.115_116del, XR_938697.3:n.742CA[1], XR_938697.2:n.1495CA[1], XR_938697.1:n.2278CA[1], XM_011531659.3:c.673_674del, XM_011531659.2:c.673_674del, XM_011531659.1:c.673_674del, XM_011531661.3:c.673_674del, XM_011531661.2:c.673_674del, XM_011531661.1:c.673_674del, NM_001277353.2:c.673_674del, NM_001277353.1:c.673_674del, XM_047449648.1:c.115_116del, NM_001034840.1:c.-3147CA[1], XP_011529955.1:p.Gln209fs, XP_011529952.1:p.Gln225fs, XP_011529956.1:p.Gln225fs, XP_011529958.1:p.Gln179fs, XP_011529959.1:p.Gln177fs, XP_011529960.1:p.Gln126fs, XP_011529967.1:p.Gln39fs, XP_011529954.1:p.Gln209fs, XP_011529953.1:p.Gln209fs, XP_011529966.1:p.Gln39fs, XP_011529961.1:p.Gln225fs, XP_011529963.1:p.Gln225fs, NP_001264282.1:p.Gln225fs, XP_047305604.1:p.Gln39fs

                  9.

                  rs1473161677 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    4:140482342 (GRCh38)
                    4:141403496 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:140482341:A:C
                    Gene:
                    MGAT4D (Varview)
                    Functional Consequence:
                    missense_variant,5_prime_UTR_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000004.12:g.140482342A>C, NC_000004.11:g.141403496A>C, XM_011531653.4:c.190T>G, XM_011531653.3:c.190T>G, XM_011531653.2:c.190T>G, XM_011531653.1:c.190T>G, XM_011531650.4:c.238T>G, XM_011531650.3:c.238T>G, XM_011531650.2:c.238T>G, XM_011531650.1:c.238T>G, XM_011531654.4:c.238T>G, XM_011531654.3:c.238T>G, XM_011531654.2:c.238T>G, XM_011531654.1:c.238T>G, XM_011531656.4:c.238T>G, XM_011531656.3:c.238T>G, XM_011531656.2:c.238T>G, XM_011531656.1:c.238T>G, XM_011531657.4:c.94T>G, XM_011531657.3:c.94T>G, XM_011531657.2:c.94T>G, XM_011531657.1:c.94T>G, XM_011531652.3:c.190T>G, XM_011531652.2:c.190T>G, XM_011531652.1:c.190T>G, XM_011531651.3:c.190T>G, XM_011531651.2:c.190T>G, XM_011531651.1:c.190T>G, XR_938697.3:n.309T>G, XR_938697.2:n.1062T>G, XR_938697.1:n.1845T>G, XM_011531659.3:c.238T>G, XM_011531659.2:c.238T>G, XM_011531659.1:c.238T>G, XM_011531661.3:c.238T>G, XM_011531661.2:c.238T>G, XM_011531661.1:c.238T>G, XM_011531662.3:c.238T>G, XM_011531662.2:c.238T>G, XM_011531662.1:c.238T>G, NM_001277353.2:c.238T>G, NM_001277353.1:c.238T>G, XM_047449648.1:c.-49T>G, XP_011529955.1:p.Leu64Val, XP_011529952.1:p.Leu80Val, XP_011529956.1:p.Leu80Val, XP_011529958.1:p.Leu80Val, XP_011529959.1:p.Leu32Val, XP_011529954.1:p.Leu64Val, XP_011529953.1:p.Leu64Val, XP_011529961.1:p.Leu80Val, XP_011529963.1:p.Leu80Val, XP_011529964.1:p.Leu80Val, NP_001264282.1:p.Leu80Val

                    10.

                    rs1468296339 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      4:140461986 (GRCh38)
                      4:141383140 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:140461985:T:C
                      Gene:
                      MGAT4D (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
                      HGVS:
                      NC_000004.12:g.140461986T>C, NC_000004.11:g.141383140T>C, XM_011531653.4:c.657A>G, XM_011531653.3:c.657A>G, XM_011531653.2:c.657A>G, XM_011531653.1:c.657A>G, XM_011531650.4:c.705A>G, XM_011531650.3:c.705A>G, XM_011531650.2:c.705A>G, XM_011531650.1:c.705A>G, XM_011531654.4:c.705A>G, XM_011531654.3:c.705A>G, XM_011531654.2:c.705A>G, XM_011531654.1:c.705A>G, XM_011531656.4:c.567A>G, XM_011531656.3:c.567A>G, XM_011531656.2:c.567A>G, XM_011531656.1:c.567A>G, XM_011531657.4:c.561A>G, XM_011531657.3:c.561A>G, XM_011531657.2:c.561A>G, XM_011531657.1:c.561A>G, XM_011531658.4:c.408A>G, XM_011531658.3:c.408A>G, XM_011531658.2:c.408A>G, XM_011531658.1:c.408A>G, XM_011531665.4:c.147A>G, XM_011531665.3:c.147A>G, XM_011531665.2:c.147A>G, XM_011531665.1:c.147A>G, XM_011531652.3:c.657A>G, XM_011531652.2:c.657A>G, XM_011531652.1:c.657A>G, XM_011531651.3:c.657A>G, XM_011531651.2:c.657A>G, XM_011531651.1:c.657A>G, XM_011531664.3:c.147A>G, XM_011531664.2:c.147A>G, XM_011531664.1:c.147A>G, XR_938697.3:n.960A>G, XR_938697.2:n.1713A>G, XR_938697.1:n.2496A>G, XM_011531659.3:c.705A>G, XM_011531659.2:c.705A>G, XM_011531659.1:c.705A>G, NM_001277353.2:c.705A>G, NM_001277353.1:c.705A>G, XM_047449648.1:c.147A>G, NM_001034840.1:c.-2929A>G

                      11.

                      rs1466460511 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        4:140474913 (GRCh38)
                        4:141396067 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:140474912:C:A
                        Gene:
                        MGAT4D (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000016/2 (GnomAD_exomes)
                        A=0.000021/3 (GnomAD)
                        A=0.000023/6 (TOPMED)
                        HGVS:
                        NC_000004.12:g.140474913C>A, NC_000004.11:g.141396067C>A, XM_011531653.4:c.377G>T, XM_011531653.3:c.377G>T, XM_011531653.2:c.377G>T, XM_011531653.1:c.377G>T, XM_011531650.4:c.425G>T, XM_011531650.3:c.425G>T, XM_011531650.2:c.425G>T, XM_011531650.1:c.425G>T, XM_011531654.4:c.425G>T, XM_011531654.3:c.425G>T, XM_011531654.2:c.425G>T, XM_011531654.1:c.425G>T, XM_011531656.4:c.287G>T, XM_011531656.3:c.287G>T, XM_011531656.2:c.287G>T, XM_011531656.1:c.287G>T, XM_011531657.4:c.281G>T, XM_011531657.3:c.281G>T, XM_011531657.2:c.281G>T, XM_011531657.1:c.281G>T, XM_011531658.4:c.128G>T, XM_011531658.3:c.128G>T, XM_011531658.2:c.128G>T, XM_011531658.1:c.128G>T, XM_011531652.3:c.377G>T, XM_011531652.2:c.377G>T, XM_011531652.1:c.377G>T, XM_011531651.3:c.377G>T, XM_011531651.2:c.377G>T, XM_011531651.1:c.377G>T, XR_938697.3:n.496G>T, XR_938697.2:n.1249G>T, XR_938697.1:n.2032G>T, XM_011531659.3:c.425G>T, XM_011531659.2:c.425G>T, XM_011531659.1:c.425G>T, XM_011531661.3:c.425G>T, XM_011531661.2:c.425G>T, XM_011531661.1:c.425G>T, XM_011531662.3:c.425G>T, XM_011531662.2:c.425G>T, XM_011531662.1:c.425G>T, NM_001277353.2:c.425G>T, NM_001277353.1:c.425G>T, XP_011529955.1:p.Arg126Ile, XP_011529952.1:p.Arg142Ile, XP_011529956.1:p.Arg142Ile, XP_011529958.1:p.Arg96Ile, XP_011529959.1:p.Arg94Ile, XP_011529960.1:p.Arg43Ile, XP_011529954.1:p.Arg126Ile, XP_011529953.1:p.Arg126Ile, XP_011529961.1:p.Arg142Ile, XP_011529963.1:p.Arg142Ile, XP_011529964.1:p.Arg142Ile, NP_001264282.1:p.Arg142Ile

                        12.

                        rs1464975371 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          4:140456655 (GRCh38)
                          4:141377809 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:140456654:C:A
                          Gene:
                          MGAT4D (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000004.12:g.140456655C>A, NC_000004.11:g.141377809C>A, XM_011531653.4:c.894G>T, XM_011531653.3:c.894G>T, XM_011531653.2:c.894G>T, XM_011531653.1:c.894G>T, XM_011531650.4:c.942G>T, XM_011531650.3:c.942G>T, XM_011531650.2:c.942G>T, XM_011531650.1:c.942G>T, XM_011531654.4:c.885G>T, XM_011531654.3:c.885G>T, XM_011531654.2:c.885G>T, XM_011531654.1:c.885G>T, XM_011531656.4:c.804G>T, XM_011531656.3:c.804G>T, XM_011531656.2:c.804G>T, XM_011531656.1:c.804G>T, XM_011531657.4:c.798G>T, XM_011531657.3:c.798G>T, XM_011531657.2:c.798G>T, XM_011531657.1:c.798G>T, XM_011531658.4:c.645G>T, XM_011531658.3:c.645G>T, XM_011531658.2:c.645G>T, XM_011531658.1:c.645G>T, XM_011531665.4:c.384G>T, XM_011531665.3:c.384G>T, XM_011531665.2:c.384G>T, XM_011531665.1:c.384G>T, XM_011531652.3:c.894G>T, XM_011531652.2:c.894G>T, XM_011531652.1:c.894G>T, XM_011531651.3:c.894G>T, XM_011531651.2:c.894G>T, XM_011531651.1:c.894G>T, XM_011531664.3:c.384G>T, XM_011531664.2:c.384G>T, XM_011531664.1:c.384G>T, XR_938697.3:n.1082G>T, XR_938697.2:n.1835G>T, XR_938697.1:n.2618G>T, XM_011531659.3:c.*38G>T, XM_011531659.2:c.*38G>T, XM_011531659.1:c.*38G>T, XM_011531661.3:c.*52G>T, XM_011531661.2:c.*52G>T, XM_011531661.1:c.*52G>T, XM_011531662.3:c.*52G>T, XM_011531662.2:c.*52G>T, XM_011531662.1:c.*52G>T, NM_001277353.2:c.942G>T, NM_001277353.1:c.942G>T, XM_047449648.1:c.384G>T, NM_001034840.1:c.102G>T, XP_011529955.1:p.Glu298Asp, XP_011529952.1:p.Glu314Asp, XP_011529956.1:p.Glu295Asp, XP_011529958.1:p.Glu268Asp, XP_011529959.1:p.Glu266Asp, XP_011529960.1:p.Glu215Asp, XP_011529967.1:p.Glu128Asp, XP_011529954.1:p.Glu298Asp, XP_011529953.1:p.Glu298Asp, XP_011529966.1:p.Glu128Asp, NP_001264282.1:p.Glu314Asp, XP_047305604.1:p.Glu128Asp

                          13.

                          rs1464345582 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            4:140456683 (GRCh38)
                            4:141377837 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:140456682:A:G
                            Gene:
                            MGAT4D (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000008/1 (GnomAD_exomes)
                            HGVS:
                            NC_000004.12:g.140456683A>G, NC_000004.11:g.141377837A>G, XM_011531653.4:c.866T>C, XM_011531653.3:c.866T>C, XM_011531653.2:c.866T>C, XM_011531653.1:c.866T>C, XM_011531650.4:c.914T>C, XM_011531650.3:c.914T>C, XM_011531650.2:c.914T>C, XM_011531650.1:c.914T>C, XM_011531654.4:c.857T>C, XM_011531654.3:c.857T>C, XM_011531654.2:c.857T>C, XM_011531654.1:c.857T>C, XM_011531656.4:c.776T>C, XM_011531656.3:c.776T>C, XM_011531656.2:c.776T>C, XM_011531656.1:c.776T>C, XM_011531657.4:c.770T>C, XM_011531657.3:c.770T>C, XM_011531657.2:c.770T>C, XM_011531657.1:c.770T>C, XM_011531658.4:c.617T>C, XM_011531658.3:c.617T>C, XM_011531658.2:c.617T>C, XM_011531658.1:c.617T>C, XM_011531665.4:c.356T>C, XM_011531665.3:c.356T>C, XM_011531665.2:c.356T>C, XM_011531665.1:c.356T>C, XM_011531652.3:c.866T>C, XM_011531652.2:c.866T>C, XM_011531652.1:c.866T>C, XM_011531651.3:c.866T>C, XM_011531651.2:c.866T>C, XM_011531651.1:c.866T>C, XM_011531664.3:c.356T>C, XM_011531664.2:c.356T>C, XM_011531664.1:c.356T>C, XR_938697.3:n.1054T>C, XR_938697.2:n.1807T>C, XR_938697.1:n.2590T>C, XM_011531659.3:c.*10T>C, XM_011531659.2:c.*10T>C, XM_011531659.1:c.*10T>C, XM_011531661.3:c.*24T>C, XM_011531661.2:c.*24T>C, XM_011531661.1:c.*24T>C, XM_011531662.3:c.*24T>C, XM_011531662.2:c.*24T>C, XM_011531662.1:c.*24T>C, NM_001277353.2:c.914T>C, NM_001277353.1:c.914T>C, XM_047449648.1:c.356T>C, NM_001034840.1:c.74T>C, XP_011529955.1:p.Val289Ala, XP_011529952.1:p.Val305Ala, XP_011529956.1:p.Val286Ala, XP_011529958.1:p.Val259Ala, XP_011529959.1:p.Val257Ala, XP_011529960.1:p.Val206Ala, XP_011529967.1:p.Val119Ala, XP_011529954.1:p.Val289Ala, XP_011529953.1:p.Val289Ala, XP_011529966.1:p.Val119Ala, NP_001264282.1:p.Val305Ala, XP_047305604.1:p.Val119Ala

                            14.

                            rs1463378595 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              4:140479549 (GRCh38)
                              4:141400703 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:140479548:T:G
                              Gene:
                              MGAT4D (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.00002/1 (GnomAD_exomes)
                              HGVS:
                              NC_000004.12:g.140479549T>G, NC_000004.11:g.141400703T>G, XM_011531653.4:c.284A>C, XM_011531653.3:c.284A>C, XM_011531653.2:c.284A>C, XM_011531653.1:c.284A>C, XM_011531650.4:c.332A>C, XM_011531650.3:c.332A>C, XM_011531650.2:c.332A>C, XM_011531650.1:c.332A>C, XM_011531654.4:c.332A>C, XM_011531654.3:c.332A>C, XM_011531654.2:c.332A>C, XM_011531654.1:c.332A>C, XM_011531657.4:c.188A>C, XM_011531657.3:c.188A>C, XM_011531657.2:c.188A>C, XM_011531657.1:c.188A>C, XM_011531652.3:c.284A>C, XM_011531652.2:c.284A>C, XM_011531652.1:c.284A>C, XM_011531651.3:c.284A>C, XM_011531651.2:c.284A>C, XM_011531651.1:c.284A>C, XR_938697.3:n.403A>C, XR_938697.2:n.1156A>C, XR_938697.1:n.1939A>C, XM_011531659.3:c.332A>C, XM_011531659.2:c.332A>C, XM_011531659.1:c.332A>C, XM_011531661.3:c.332A>C, XM_011531661.2:c.332A>C, XM_011531661.1:c.332A>C, XM_011531662.3:c.332A>C, XM_011531662.2:c.332A>C, XM_011531662.1:c.332A>C, NM_001277353.2:c.332A>C, NM_001277353.1:c.332A>C, XP_011529955.1:p.His95Pro, XP_011529952.1:p.His111Pro, XP_011529956.1:p.His111Pro, XP_011529959.1:p.His63Pro, XP_011529954.1:p.His95Pro, XP_011529953.1:p.His95Pro, XP_011529961.1:p.His111Pro, XP_011529963.1:p.His111Pro, XP_011529964.1:p.His111Pro, NP_001264282.1:p.His111Pro

                              15.

                              rs1458395963 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                4:140456697 (GRCh38)
                                4:141377851 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:140456696:G:A
                                Gene:
                                MGAT4D (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,3_prime_UTR_variant,non_coding_transcript_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000004.12:g.140456697G>A, NC_000004.11:g.141377851G>A, XM_011531653.4:c.852C>T, XM_011531653.3:c.852C>T, XM_011531653.2:c.852C>T, XM_011531653.1:c.852C>T, XM_011531650.4:c.900C>T, XM_011531650.3:c.900C>T, XM_011531650.2:c.900C>T, XM_011531650.1:c.900C>T, XM_011531654.4:c.843C>T, XM_011531654.3:c.843C>T, XM_011531654.2:c.843C>T, XM_011531654.1:c.843C>T, XM_011531656.4:c.762C>T, XM_011531656.3:c.762C>T, XM_011531656.2:c.762C>T, XM_011531656.1:c.762C>T, XM_011531657.4:c.756C>T, XM_011531657.3:c.756C>T, XM_011531657.2:c.756C>T, XM_011531657.1:c.756C>T, XM_011531658.4:c.603C>T, XM_011531658.3:c.603C>T, XM_011531658.2:c.603C>T, XM_011531658.1:c.603C>T, XM_011531665.4:c.342C>T, XM_011531665.3:c.342C>T, XM_011531665.2:c.342C>T, XM_011531665.1:c.342C>T, XM_011531652.3:c.852C>T, XM_011531652.2:c.852C>T, XM_011531652.1:c.852C>T, XM_011531651.3:c.852C>T, XM_011531651.2:c.852C>T, XM_011531651.1:c.852C>T, XM_011531664.3:c.342C>T, XM_011531664.2:c.342C>T, XM_011531664.1:c.342C>T, XR_938697.3:n.1040C>T, XR_938697.2:n.1793C>T, XR_938697.1:n.2576C>T, XM_011531659.3:c.785C>T, XM_011531659.2:c.785C>T, XM_011531659.1:c.785C>T, XM_011531661.3:c.*10C>T, XM_011531661.2:c.*10C>T, XM_011531661.1:c.*10C>T, XM_011531662.3:c.*10C>T, XM_011531662.2:c.*10C>T, XM_011531662.1:c.*10C>T, NM_001277353.2:c.900C>T, NM_001277353.1:c.900C>T, XM_047449648.1:c.342C>T, NM_001034840.1:c.60C>T, XP_011529961.1:p.Thr262Ile

                                16.

                                rs1458312112 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  4:140464944 (GRCh38)
                                  4:141386098 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:140464943:C:T
                                  Gene:
                                  MGAT4D (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000007/1 (GnomAD_exomes)
                                  T=0.000038/10 (TOPMED)
                                  T=0.000071/10 (GnomAD)
                                  HGVS:
                                  NC_000004.12:g.140464944C>T, NC_000004.11:g.141386098C>T, XM_011531653.4:c.590G>A, XM_011531653.3:c.590G>A, XM_011531653.2:c.590G>A, XM_011531653.1:c.590G>A, XM_011531650.4:c.638G>A, XM_011531650.3:c.638G>A, XM_011531650.2:c.638G>A, XM_011531650.1:c.638G>A, XM_011531654.4:c.638G>A, XM_011531654.3:c.638G>A, XM_011531654.2:c.638G>A, XM_011531654.1:c.638G>A, XM_011531656.4:c.500G>A, XM_011531656.3:c.500G>A, XM_011531656.2:c.500G>A, XM_011531656.1:c.500G>A, XM_011531657.4:c.494G>A, XM_011531657.3:c.494G>A, XM_011531657.2:c.494G>A, XM_011531657.1:c.494G>A, XM_011531658.4:c.341G>A, XM_011531658.3:c.341G>A, XM_011531658.2:c.341G>A, XM_011531658.1:c.341G>A, XM_011531665.4:c.80G>A, XM_011531665.3:c.80G>A, XM_011531665.2:c.80G>A, XM_011531665.1:c.80G>A, XM_011531652.3:c.590G>A, XM_011531652.2:c.590G>A, XM_011531652.1:c.590G>A, XM_011531651.3:c.590G>A, XM_011531651.2:c.590G>A, XM_011531651.1:c.590G>A, XM_011531664.3:c.80G>A, XM_011531664.2:c.80G>A, XM_011531664.1:c.80G>A, XR_938697.3:n.709G>A, XR_938697.2:n.1462G>A, XR_938697.1:n.2245G>A, XM_011531659.3:c.638G>A, XM_011531659.2:c.638G>A, XM_011531659.1:c.638G>A, XM_011531661.3:c.638G>A, XM_011531661.2:c.638G>A, XM_011531661.1:c.638G>A, NM_001277353.2:c.638G>A, NM_001277353.1:c.638G>A, XM_047449648.1:c.80G>A, NM_001034840.1:c.-3180G>A, XP_011529955.1:p.Ser197Asn, XP_011529952.1:p.Ser213Asn, XP_011529956.1:p.Ser213Asn, XP_011529958.1:p.Ser167Asn, XP_011529959.1:p.Ser165Asn, XP_011529960.1:p.Ser114Asn, XP_011529967.1:p.Ser27Asn, XP_011529954.1:p.Ser197Asn, XP_011529953.1:p.Ser197Asn, XP_011529966.1:p.Ser27Asn, XP_011529961.1:p.Ser213Asn, XP_011529963.1:p.Ser213Asn, NP_001264282.1:p.Ser213Asn, XP_047305604.1:p.Ser27Asn

                                  17.

                                  rs1452739776 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    4:140471820 (GRCh38)
                                    4:141392974 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:140471819:C:G
                                    Gene:
                                    MGAT4D (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000004.12:g.140471820C>G, NC_000004.11:g.141392974C>G, XM_011531653.4:c.479G>C, XM_011531653.3:c.479G>C, XM_011531653.2:c.479G>C, XM_011531653.1:c.479G>C, XM_011531650.4:c.527G>C, XM_011531650.3:c.527G>C, XM_011531650.2:c.527G>C, XM_011531650.1:c.527G>C, XM_011531654.4:c.527G>C, XM_011531654.3:c.527G>C, XM_011531654.2:c.527G>C, XM_011531654.1:c.527G>C, XM_011531656.4:c.389G>C, XM_011531656.3:c.389G>C, XM_011531656.2:c.389G>C, XM_011531656.1:c.389G>C, XM_011531657.4:c.383G>C, XM_011531657.3:c.383G>C, XM_011531657.2:c.383G>C, XM_011531657.1:c.383G>C, XM_011531658.4:c.230G>C, XM_011531658.3:c.230G>C, XM_011531658.2:c.230G>C, XM_011531658.1:c.230G>C, XM_011531665.4:c.-32G>C, XM_011531665.3:c.-32G>C, XM_011531665.2:c.-32G>C, XM_011531665.1:c.-32G>C, XM_011531652.3:c.479G>C, XM_011531652.2:c.479G>C, XM_011531652.1:c.479G>C, XM_011531651.3:c.479G>C, XM_011531651.2:c.479G>C, XM_011531651.1:c.479G>C, XM_011531664.3:c.-32G>C, XM_011531664.2:c.-32G>C, XM_011531664.1:c.-32G>C, XR_938697.3:n.598G>C, XR_938697.2:n.1351G>C, XR_938697.1:n.2134G>C, XM_011531659.3:c.527G>C, XM_011531659.2:c.527G>C, XM_011531659.1:c.527G>C, XM_011531661.3:c.527G>C, XM_011531661.2:c.527G>C, XM_011531661.1:c.527G>C, XM_011531662.3:c.527G>C, XM_011531662.2:c.527G>C, XM_011531662.1:c.527G>C, NM_001277353.2:c.527G>C, NM_001277353.1:c.527G>C, XM_047449648.1:c.-32G>C, NM_001034840.1:c.-3291G>C, XP_011529955.1:p.Ser160Thr, XP_011529952.1:p.Ser176Thr, XP_011529956.1:p.Ser176Thr, XP_011529958.1:p.Ser130Thr, XP_011529959.1:p.Ser128Thr, XP_011529960.1:p.Ser77Thr, XP_011529954.1:p.Ser160Thr, XP_011529953.1:p.Ser160Thr, XP_011529961.1:p.Ser176Thr, XP_011529963.1:p.Ser176Thr, XP_011529964.1:p.Ser176Thr, NP_001264282.1:p.Ser176Thr

                                    18.

                                    rs1450887732 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      4:140479520 (GRCh38)
                                      4:141400674 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:140479519:C:T
                                      Gene:
                                      MGAT4D (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000004.12:g.140479520C>T, NC_000004.11:g.141400674C>T, XM_011531653.4:c.313G>A, XM_011531653.3:c.313G>A, XM_011531653.2:c.313G>A, XM_011531653.1:c.313G>A, XM_011531650.4:c.361G>A, XM_011531650.3:c.361G>A, XM_011531650.2:c.361G>A, XM_011531650.1:c.361G>A, XM_011531654.4:c.361G>A, XM_011531654.3:c.361G>A, XM_011531654.2:c.361G>A, XM_011531654.1:c.361G>A, XM_011531657.4:c.217G>A, XM_011531657.3:c.217G>A, XM_011531657.2:c.217G>A, XM_011531657.1:c.217G>A, XM_011531652.3:c.313G>A, XM_011531652.2:c.313G>A, XM_011531652.1:c.313G>A, XM_011531651.3:c.313G>A, XM_011531651.2:c.313G>A, XM_011531651.1:c.313G>A, XR_938697.3:n.432G>A, XR_938697.2:n.1185G>A, XR_938697.1:n.1968G>A, XM_011531659.3:c.361G>A, XM_011531659.2:c.361G>A, XM_011531659.1:c.361G>A, XM_011531661.3:c.361G>A, XM_011531661.2:c.361G>A, XM_011531661.1:c.361G>A, XM_011531662.3:c.361G>A, XM_011531662.2:c.361G>A, XM_011531662.1:c.361G>A, NM_001277353.2:c.361G>A, NM_001277353.1:c.361G>A, XP_011529955.1:p.Asp105Asn, XP_011529952.1:p.Asp121Asn, XP_011529956.1:p.Asp121Asn, XP_011529959.1:p.Asp73Asn, XP_011529954.1:p.Asp105Asn, XP_011529953.1:p.Asp105Asn, XP_011529961.1:p.Asp121Asn, XP_011529963.1:p.Asp121Asn, XP_011529964.1:p.Asp121Asn, NP_001264282.1:p.Asp121Asn

                                      19.

                                      rs1443774515 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        4:140474937 (GRCh38)
                                        4:141396091 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:140474936:G:A
                                        Gene:
                                        MGAT4D (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000014/2 (GnomAD)
                                        A=0.00003/8 (TOPMED)
                                        HGVS:
                                        NC_000004.12:g.140474937G>A, NC_000004.11:g.141396091G>A, XM_011531653.4:c.353C>T, XM_011531653.3:c.353C>T, XM_011531653.2:c.353C>T, XM_011531653.1:c.353C>T, XM_011531650.4:c.401C>T, XM_011531650.3:c.401C>T, XM_011531650.2:c.401C>T, XM_011531650.1:c.401C>T, XM_011531654.4:c.401C>T, XM_011531654.3:c.401C>T, XM_011531654.2:c.401C>T, XM_011531654.1:c.401C>T, XM_011531656.4:c.263C>T, XM_011531656.3:c.263C>T, XM_011531656.2:c.263C>T, XM_011531656.1:c.263C>T, XM_011531657.4:c.257C>T, XM_011531657.3:c.257C>T, XM_011531657.2:c.257C>T, XM_011531657.1:c.257C>T, XM_011531658.4:c.104C>T, XM_011531658.3:c.104C>T, XM_011531658.2:c.104C>T, XM_011531658.1:c.104C>T, XM_011531652.3:c.353C>T, XM_011531652.2:c.353C>T, XM_011531652.1:c.353C>T, XM_011531651.3:c.353C>T, XM_011531651.2:c.353C>T, XM_011531651.1:c.353C>T, XR_938697.3:n.472C>T, XR_938697.2:n.1225C>T, XR_938697.1:n.2008C>T, XM_011531659.3:c.401C>T, XM_011531659.2:c.401C>T, XM_011531659.1:c.401C>T, XM_011531661.3:c.401C>T, XM_011531661.2:c.401C>T, XM_011531661.1:c.401C>T, XM_011531662.3:c.401C>T, XM_011531662.2:c.401C>T, XM_011531662.1:c.401C>T, NM_001277353.2:c.401C>T, NM_001277353.1:c.401C>T, XP_011529955.1:p.Ala118Val, XP_011529952.1:p.Ala134Val, XP_011529956.1:p.Ala134Val, XP_011529958.1:p.Ala88Val, XP_011529959.1:p.Ala86Val, XP_011529960.1:p.Ala35Val, XP_011529954.1:p.Ala118Val, XP_011529953.1:p.Ala118Val, XP_011529961.1:p.Ala134Val, XP_011529963.1:p.Ala134Val, XP_011529964.1:p.Ala134Val, NP_001264282.1:p.Ala134Val

                                        20.

                                        rs1441197337 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          4:140498191 (GRCh38)
                                          4:141419345 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:140498190:G:T
                                          Gene:
                                          MGAT4D (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000004.12:g.140498191G>T, NC_000004.11:g.141419345G>T, XM_011531653.4:c.-224C>A, XM_011531653.3:c.-224C>A, XM_011531653.2:c.-224C>A, XM_011531653.1:c.-224C>A, XM_011531650.4:c.32C>A, XM_011531650.3:c.32C>A, XM_011531650.2:c.32C>A, XM_011531650.1:c.32C>A, XM_011531654.4:c.32C>A, XM_011531654.3:c.32C>A, XM_011531654.2:c.32C>A, XM_011531654.1:c.32C>A, XM_011531656.4:c.32C>A, XM_011531656.3:c.32C>A, XM_011531656.2:c.32C>A, XM_011531656.1:c.32C>A, XM_011531658.4:c.32C>A, XM_011531658.3:c.32C>A, XM_011531658.2:c.32C>A, XM_011531658.1:c.32C>A, XM_011531665.4:c.-96C>A, XM_011531665.3:c.-96C>A, XM_011531665.2:c.-96C>A, XM_011531665.1:c.-96C>A, XM_011531652.3:c.-275C>A, XM_011531652.2:c.-275C>A, XM_011531652.1:c.-275C>A, XR_938697.3:n.103C>A, XR_938697.2:n.856C>A, XR_938697.1:n.1639C>A, XM_011531659.3:c.32C>A, XM_011531659.2:c.32C>A, XM_011531659.1:c.32C>A, XM_011531661.3:c.32C>A, XM_011531661.2:c.32C>A, XM_011531661.1:c.32C>A, XM_011531662.3:c.32C>A, XM_011531662.2:c.32C>A, XM_011531662.1:c.32C>A, NM_001277353.2:c.32C>A, NM_001277353.1:c.32C>A, NM_001034840.1:c.-3355C>A, XP_011529952.1:p.Thr11Asn, XP_011529956.1:p.Thr11Asn, XP_011529958.1:p.Thr11Asn, XP_011529960.1:p.Thr11Asn, XP_011529961.1:p.Thr11Asn, XP_011529963.1:p.Thr11Asn, XP_011529964.1:p.Thr11Asn, NP_001264282.1:p.Thr11Asn

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