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Items: 1 to 20 of 385

1.

rs1489935268 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    12:85989425 (GRCh38)
    12:86383203 (GRCh37)
    Canonical SPDI:
    NC_000012.12:85989424:A:C
    Gene:
    MGAT4C (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000012.12:g.85989425A>C, NC_000012.11:g.86383203A>C, NM_013244.5:c.122T>G, NM_013244.4:c.122T>G, NM_013244.3:c.122T>G, NR_147093.3:n.328T>G, NR_147093.2:n.328T>G, NR_147093.1:n.355T>G, NM_001351291.2:c.122T>G, NM_001351291.1:c.122T>G, NM_001351285.2:c.122T>G, NM_001351285.1:c.122T>G, NM_001351286.2:c.122T>G, NM_001351286.1:c.122T>G, NM_001351283.2:c.209T>G, NM_001351283.1:c.209T>G, NM_001351284.2:c.209T>G, NM_001351284.1:c.209T>G, NM_001351289.2:c.122T>G, NM_001351289.1:c.122T>G, NM_001351282.2:c.236T>G, NM_001351282.1:c.236T>G, NM_001351288.2:c.122T>G, NM_001351288.1:c.122T>G, NM_001351287.2:c.122T>G, NM_001351287.1:c.122T>G, NP_037376.2:p.Leu41Trp, NP_001338220.1:p.Leu41Trp, NP_001338214.1:p.Leu41Trp, NP_001338215.1:p.Leu41Trp, NP_001338212.1:p.Leu70Trp, NP_001338213.1:p.Leu70Trp, NP_001338218.1:p.Leu41Trp, NP_001338211.1:p.Leu79Trp, NP_001338217.1:p.Leu41Trp, NP_001338216.1:p.Leu41Trp

    2.

    rs1482741387 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      12:85979948 (GRCh38)
      12:86373726 (GRCh37)
      Canonical SPDI:
      NC_000012.12:85979947:T:C
      Gene:
      MGAT4C (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000012.12:g.85979948T>C, NC_000012.11:g.86373726T>C, NM_013244.5:c.778A>G, NM_013244.4:c.778A>G, NM_013244.3:c.778A>G, NM_001351291.2:c.778A>G, NM_001351291.1:c.778A>G, NM_001351285.2:c.778A>G, NM_001351285.1:c.778A>G, NM_001351286.2:c.778A>G, NM_001351286.1:c.778A>G, NM_001351283.2:c.865A>G, NM_001351283.1:c.865A>G, NM_001351284.2:c.865A>G, NM_001351284.1:c.865A>G, NM_001351289.2:c.778A>G, NM_001351289.1:c.778A>G, NM_001351282.2:c.892A>G, NM_001351282.1:c.892A>G, NM_001351288.2:c.778A>G, NM_001351288.1:c.778A>G, NM_001351287.2:c.778A>G, NM_001351287.1:c.778A>G, NP_037376.2:p.Ile260Val, NP_001338220.1:p.Ile260Val, NP_001338214.1:p.Ile260Val, NP_001338215.1:p.Ile260Val, NP_001338212.1:p.Ile289Val, NP_001338213.1:p.Ile289Val, NP_001338218.1:p.Ile260Val, NP_001338211.1:p.Ile298Val, NP_001338217.1:p.Ile260Val, NP_001338216.1:p.Ile260Val

      3.

      rs1476508920 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        12:85979664 (GRCh38)
        12:86373442 (GRCh37)
        Canonical SPDI:
        NC_000012.12:85979663:A:G
        Gene:
        MGAT4C (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        G=0.000071/1 (TOMMO)
        HGVS:

        4.

        rs1474661503 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          12:85979452 (GRCh38)
          12:86373230 (GRCh37)
          Canonical SPDI:
          NC_000012.12:85979451:T:C
          Gene:
          MGAT4C (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          HGVS:
          NC_000012.12:g.85979452T>C, NC_000012.11:g.86373230T>C, NM_013244.5:c.1274A>G, NM_013244.4:c.1274A>G, NM_013244.3:c.1274A>G, NR_147093.3:n.845A>G, NR_147093.2:n.845A>G, NR_147093.1:n.872A>G, NM_001351291.2:c.1274A>G, NM_001351291.1:c.1274A>G, NM_001351285.2:c.1274A>G, NM_001351285.1:c.1274A>G, NM_001351286.2:c.1274A>G, NM_001351286.1:c.1274A>G, NM_001351283.2:c.1361A>G, NM_001351283.1:c.1361A>G, NM_001351284.2:c.1361A>G, NM_001351284.1:c.1361A>G, NM_001351289.2:c.1274A>G, NM_001351289.1:c.1274A>G, NM_001351282.2:c.1388A>G, NM_001351282.1:c.1388A>G, NM_001351288.2:c.1274A>G, NM_001351288.1:c.1274A>G, NM_001351287.2:c.1274A>G, NM_001351287.1:c.1274A>G, NP_037376.2:p.Gln425Arg, NP_001338220.1:p.Gln425Arg, NP_001338214.1:p.Gln425Arg, NP_001338215.1:p.Gln425Arg, NP_001338212.1:p.Gln454Arg, NP_001338213.1:p.Gln454Arg, NP_001338218.1:p.Gln425Arg, NP_001338211.1:p.Gln463Arg, NP_001338217.1:p.Gln425Arg, NP_001338216.1:p.Gln425Arg

          5.

          rs1472660511 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            12:85979641 (GRCh38)
            12:86373419 (GRCh37)
            Canonical SPDI:
            NC_000012.12:85979640:C:T
            Gene:
            MGAT4C (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            T=0.000008/2 (TOPMED)
            T=0.000035/1 (TOMMO)
            HGVS:
            NC_000012.12:g.85979641C>T, NC_000012.11:g.86373419C>T, NM_013244.5:c.1085G>A, NM_013244.4:c.1085G>A, NM_013244.3:c.1085G>A, NR_147093.3:n.656G>A, NR_147093.2:n.656G>A, NR_147093.1:n.683G>A, NM_001351291.2:c.1085G>A, NM_001351291.1:c.1085G>A, NM_001351285.2:c.1085G>A, NM_001351285.1:c.1085G>A, NM_001351286.2:c.1085G>A, NM_001351286.1:c.1085G>A, NM_001351283.2:c.1172G>A, NM_001351283.1:c.1172G>A, NM_001351284.2:c.1172G>A, NM_001351284.1:c.1172G>A, NM_001351289.2:c.1085G>A, NM_001351289.1:c.1085G>A, NM_001351282.2:c.1199G>A, NM_001351282.1:c.1199G>A, NM_001351288.2:c.1085G>A, NM_001351288.1:c.1085G>A, NM_001351287.2:c.1085G>A, NM_001351287.1:c.1085G>A, NP_037376.2:p.Ser362Asn, NP_001338220.1:p.Ser362Asn, NP_001338214.1:p.Ser362Asn, NP_001338215.1:p.Ser362Asn, NP_001338212.1:p.Ser391Asn, NP_001338213.1:p.Ser391Asn, NP_001338218.1:p.Ser362Asn, NP_001338211.1:p.Ser400Asn, NP_001338217.1:p.Ser362Asn, NP_001338216.1:p.Ser362Asn

            6.

            rs1472424507 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              12:85979531 (GRCh38)
              12:86373309 (GRCh37)
              Canonical SPDI:
              NC_000012.12:85979530:C:T
              Gene:
              MGAT4C (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              NC_000012.12:g.85979531C>T, NC_000012.11:g.86373309C>T, NM_013244.5:c.1195G>A, NM_013244.4:c.1195G>A, NM_013244.3:c.1195G>A, NR_147093.3:n.766G>A, NR_147093.2:n.766G>A, NR_147093.1:n.793G>A, NM_001351291.2:c.1195G>A, NM_001351291.1:c.1195G>A, NM_001351285.2:c.1195G>A, NM_001351285.1:c.1195G>A, NM_001351286.2:c.1195G>A, NM_001351286.1:c.1195G>A, NM_001351283.2:c.1282G>A, NM_001351283.1:c.1282G>A, NM_001351284.2:c.1282G>A, NM_001351284.1:c.1282G>A, NM_001351289.2:c.1195G>A, NM_001351289.1:c.1195G>A, NM_001351282.2:c.1309G>A, NM_001351282.1:c.1309G>A, NM_001351288.2:c.1195G>A, NM_001351288.1:c.1195G>A, NM_001351287.2:c.1195G>A, NM_001351287.1:c.1195G>A, NP_037376.2:p.Glu399Lys, NP_001338220.1:p.Glu399Lys, NP_001338214.1:p.Glu399Lys, NP_001338215.1:p.Glu399Lys, NP_001338212.1:p.Glu428Lys, NP_001338213.1:p.Glu428Lys, NP_001338218.1:p.Glu399Lys, NP_001338211.1:p.Glu437Lys, NP_001338217.1:p.Glu399Lys, NP_001338216.1:p.Glu399Lys

              7.

              rs1470907622 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                12:85980276 (GRCh38)
                12:86374054 (GRCh37)
                Canonical SPDI:
                NC_000012.12:85980275:A:C
                Gene:
                MGAT4C (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,missense_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000012.12:g.85980276A>C, NC_000012.11:g.86374054A>C, NM_013244.5:c.450T>G, NM_013244.4:c.450T>G, NM_013244.3:c.450T>G, NM_001351291.2:c.450T>G, NM_001351291.1:c.450T>G, NM_001351285.2:c.450T>G, NM_001351285.1:c.450T>G, NM_001351286.2:c.450T>G, NM_001351286.1:c.450T>G, NM_001351283.2:c.537T>G, NM_001351283.1:c.537T>G, NM_001351284.2:c.537T>G, NM_001351284.1:c.537T>G, NM_001351289.2:c.450T>G, NM_001351289.1:c.450T>G, NM_001351282.2:c.564T>G, NM_001351282.1:c.564T>G, NM_001351288.2:c.450T>G, NM_001351288.1:c.450T>G, NM_001351287.2:c.450T>G, NM_001351287.1:c.450T>G, NP_037376.2:p.Asp150Glu, NP_001338220.1:p.Asp150Glu, NP_001338214.1:p.Asp150Glu, NP_001338215.1:p.Asp150Glu, NP_001338212.1:p.Asp179Glu, NP_001338213.1:p.Asp179Glu, NP_001338218.1:p.Asp150Glu, NP_001338211.1:p.Asp188Glu, NP_001338217.1:p.Asp150Glu, NP_001338216.1:p.Asp150Glu

                8.

                rs1468180725 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->AGG [Show Flanks]
                  Chromosome:
                  12:85979456 (GRCh38)
                  12:86373235 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:85979456::AGG
                  Gene:
                  MGAT4C (Varview)
                  Functional Consequence:
                  coding_sequence_variant,inframe_insertion,non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  AGG=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000012.12:g.85979456_85979457insAGG, NC_000012.11:g.86373234_86373235insAGG, NM_013244.5:c.1269_1270insCCT, NM_013244.4:c.1269_1270insCCT, NM_013244.3:c.1269_1270insCCT, NR_147093.3:n.840_841insCCT, NR_147093.2:n.840_841insCCT, NR_147093.1:n.867_868insCCT, NM_001351291.2:c.1269_1270insCCT, NM_001351291.1:c.1269_1270insCCT, NM_001351285.2:c.1269_1270insCCT, NM_001351285.1:c.1269_1270insCCT, NM_001351286.2:c.1269_1270insCCT, NM_001351286.1:c.1269_1270insCCT, NM_001351283.2:c.1356_1357insCCT, NM_001351283.1:c.1356_1357insCCT, NM_001351284.2:c.1356_1357insCCT, NM_001351284.1:c.1356_1357insCCT, NM_001351289.2:c.1269_1270insCCT, NM_001351289.1:c.1269_1270insCCT, NM_001351282.2:c.1383_1384insCCT, NM_001351282.1:c.1383_1384insCCT, NM_001351288.2:c.1269_1270insCCT, NM_001351288.1:c.1269_1270insCCT, NM_001351287.2:c.1269_1270insCCT, NM_001351287.1:c.1269_1270insCCT, NP_037376.2:p.Arg424_Gln425insPro, NP_001338220.1:p.Arg424_Gln425insPro, NP_001338214.1:p.Arg424_Gln425insPro, NP_001338215.1:p.Arg424_Gln425insPro, NP_001338212.1:p.Arg453_Gln454insPro, NP_001338213.1:p.Arg453_Gln454insPro, NP_001338218.1:p.Arg424_Gln425insPro, NP_001338211.1:p.Arg462_Gln463insPro, NP_001338217.1:p.Arg424_Gln425insPro, NP_001338216.1:p.Arg424_Gln425insPro

                  9.

                  rs1466990885 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    12:85979844 (GRCh38)
                    12:86373622 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:85979843:A:C
                    Gene:
                    MGAT4C (Varview)
                    Functional Consequence:
                    intron_variant,synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1464647465 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      12:85980080 (GRCh38)
                      12:86373858 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:85980079:T:C
                      Gene:
                      MGAT4C (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000012.12:g.85980080T>C, NC_000012.11:g.86373858T>C, NM_013244.5:c.646A>G, NM_013244.4:c.646A>G, NM_013244.3:c.646A>G, NM_001351291.2:c.646A>G, NM_001351291.1:c.646A>G, NM_001351285.2:c.646A>G, NM_001351285.1:c.646A>G, NM_001351286.2:c.646A>G, NM_001351286.1:c.646A>G, NM_001351283.2:c.733A>G, NM_001351283.1:c.733A>G, NM_001351284.2:c.733A>G, NM_001351284.1:c.733A>G, NM_001351289.2:c.646A>G, NM_001351289.1:c.646A>G, NM_001351282.2:c.760A>G, NM_001351282.1:c.760A>G, NM_001351288.2:c.646A>G, NM_001351288.1:c.646A>G, NM_001351287.2:c.646A>G, NM_001351287.1:c.646A>G, NP_037376.2:p.Thr216Ala, NP_001338220.1:p.Thr216Ala, NP_001338214.1:p.Thr216Ala, NP_001338215.1:p.Thr216Ala, NP_001338212.1:p.Thr245Ala, NP_001338213.1:p.Thr245Ala, NP_001338218.1:p.Thr216Ala, NP_001338211.1:p.Thr254Ala, NP_001338217.1:p.Thr216Ala, NP_001338216.1:p.Thr216Ala

                      11.

                      rs1459620501 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A,C [Show Flanks]
                        Chromosome:
                        12:85989519 (GRCh38)
                        12:86383297 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:85989518:T:A,NC_000012.12:85989518:T:C
                        Gene:
                        MGAT4C (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.00005/1 (ALFA)
                        A=0.00055/1 (Korea1K)
                        HGVS:
                        NC_000012.12:g.85989519T>A, NC_000012.12:g.85989519T>C, NC_000012.11:g.86383297T>A, NC_000012.11:g.86383297T>C, NM_013244.5:c.28A>T, NM_013244.5:c.28A>G, NM_013244.4:c.28A>T, NM_013244.4:c.28A>G, NM_013244.3:c.28A>T, NM_013244.3:c.28A>G, NR_147093.3:n.234A>T, NR_147093.3:n.234A>G, NR_147093.2:n.234A>T, NR_147093.2:n.234A>G, NR_147093.1:n.261A>T, NR_147093.1:n.261A>G, NM_001351291.2:c.28A>T, NM_001351291.2:c.28A>G, NM_001351291.1:c.28A>T, NM_001351291.1:c.28A>G, NM_001351285.2:c.28A>T, NM_001351285.2:c.28A>G, NM_001351285.1:c.28A>T, NM_001351285.1:c.28A>G, NM_001351286.2:c.28A>T, NM_001351286.2:c.28A>G, NM_001351286.1:c.28A>T, NM_001351286.1:c.28A>G, NM_001351283.2:c.115A>T, NM_001351283.2:c.115A>G, NM_001351283.1:c.115A>T, NM_001351283.1:c.115A>G, NM_001351284.2:c.115A>T, NM_001351284.2:c.115A>G, NM_001351284.1:c.115A>T, NM_001351284.1:c.115A>G, NM_001351289.2:c.28A>T, NM_001351289.2:c.28A>G, NM_001351289.1:c.28A>T, NM_001351289.1:c.28A>G, NM_001351282.2:c.142A>T, NM_001351282.2:c.142A>G, NM_001351282.1:c.142A>T, NM_001351282.1:c.142A>G, NM_001351288.2:c.28A>T, NM_001351288.2:c.28A>G, NM_001351288.1:c.28A>T, NM_001351288.1:c.28A>G, NM_001351287.2:c.28A>T, NM_001351287.2:c.28A>G, NM_001351287.1:c.28A>T, NM_001351287.1:c.28A>G, NP_037376.2:p.Ile10Phe, NP_037376.2:p.Ile10Val, NP_001338220.1:p.Ile10Phe, NP_001338220.1:p.Ile10Val, NP_001338214.1:p.Ile10Phe, NP_001338214.1:p.Ile10Val, NP_001338215.1:p.Ile10Phe, NP_001338215.1:p.Ile10Val, NP_001338212.1:p.Ile39Phe, NP_001338212.1:p.Ile39Val, NP_001338213.1:p.Ile39Phe, NP_001338213.1:p.Ile39Val, NP_001338218.1:p.Ile10Phe, NP_001338218.1:p.Ile10Val, NP_001338211.1:p.Ile48Phe, NP_001338211.1:p.Ile48Val, NP_001338217.1:p.Ile10Phe, NP_001338217.1:p.Ile10Val, NP_001338216.1:p.Ile10Phe, NP_001338216.1:p.Ile10Val

                        12.

                        rs1454551652 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          ATT>- [Show Flanks]
                          Chromosome:
                          12:85980156 (GRCh38)
                          12:86373934 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:85980155:ATT:
                          Gene:
                          MGAT4C (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,inframe_deletion
                          Validated:
                          by frequency
                          MAF:
                          -=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000012.12:g.85980156_85980158del, NC_000012.11:g.86373934_86373936del, NM_013244.5:c.568_570del, NM_013244.4:c.568_570del, NM_013244.3:c.568_570del, NM_001351291.2:c.568_570del, NM_001351291.1:c.568_570del, NM_001351285.2:c.568_570del, NM_001351285.1:c.568_570del, NM_001351286.2:c.568_570del, NM_001351286.1:c.568_570del, NM_001351283.2:c.655_657del, NM_001351283.1:c.655_657del, NM_001351284.2:c.655_657del, NM_001351284.1:c.655_657del, NM_001351289.2:c.568_570del, NM_001351289.1:c.568_570del, NM_001351282.2:c.682_684del, NM_001351282.1:c.682_684del, NM_001351288.2:c.568_570del, NM_001351288.1:c.568_570del, NM_001351287.2:c.568_570del, NM_001351287.1:c.568_570del, NP_037376.2:p.Asn190del, NP_001338220.1:p.Asn190del, NP_001338214.1:p.Asn190del, NP_001338215.1:p.Asn190del, NP_001338212.1:p.Asn219del, NP_001338213.1:p.Asn219del, NP_001338218.1:p.Asn190del, NP_001338211.1:p.Asn228del, NP_001338217.1:p.Asn190del, NP_001338216.1:p.Asn190del

                          13.

                          rs1451329315 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            12:85979418 (GRCh38)
                            12:86373196 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:85979417:T:G
                            Gene:
                            MGAT4C (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000012.12:g.85979418T>G, NC_000012.11:g.86373196T>G, NM_013244.5:c.1308A>C, NM_013244.4:c.1308A>C, NM_013244.3:c.1308A>C, NR_147093.3:n.879A>C, NR_147093.2:n.879A>C, NR_147093.1:n.906A>C, NM_001351291.2:c.1308A>C, NM_001351291.1:c.1308A>C, NM_001351285.2:c.1308A>C, NM_001351285.1:c.1308A>C, NM_001351286.2:c.1308A>C, NM_001351286.1:c.1308A>C, NM_001351283.2:c.1395A>C, NM_001351283.1:c.1395A>C, NM_001351284.2:c.1395A>C, NM_001351284.1:c.1395A>C, NM_001351289.2:c.1308A>C, NM_001351289.1:c.1308A>C, NM_001351282.2:c.1422A>C, NM_001351282.1:c.1422A>C, NM_001351288.2:c.1308A>C, NM_001351288.1:c.1308A>C, NM_001351287.2:c.1308A>C, NM_001351287.1:c.1308A>C, NP_037376.2:p.Lys436Asn, NP_001338220.1:p.Lys436Asn, NP_001338214.1:p.Lys436Asn, NP_001338215.1:p.Lys436Asn, NP_001338212.1:p.Lys465Asn, NP_001338213.1:p.Lys465Asn, NP_001338218.1:p.Lys436Asn, NP_001338211.1:p.Lys474Asn, NP_001338217.1:p.Lys436Asn, NP_001338216.1:p.Lys436Asn

                            14.

                            rs1451143328 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              12:85983547 (GRCh38)
                              12:86377325 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:85983546:C:G
                              Gene:
                              MGAT4C (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              G=0.0033/6 (Korea1K)
                              HGVS:
                              NC_000012.12:g.85983547C>G, NC_000012.11:g.86377325C>G, NM_013244.5:c.271G>C, NM_013244.4:c.271G>C, NM_013244.3:c.271G>C, NR_147093.3:n.477G>C, NR_147093.2:n.477G>C, NR_147093.1:n.504G>C, NM_001351291.2:c.271G>C, NM_001351291.1:c.271G>C, NM_001351285.2:c.271G>C, NM_001351285.1:c.271G>C, NM_001351286.2:c.271G>C, NM_001351286.1:c.271G>C, NM_001351283.2:c.358G>C, NM_001351283.1:c.358G>C, NM_001351284.2:c.358G>C, NM_001351284.1:c.358G>C, NM_001351289.2:c.271G>C, NM_001351289.1:c.271G>C, NM_001351282.2:c.385G>C, NM_001351282.1:c.385G>C, NM_001351288.2:c.271G>C, NM_001351288.1:c.271G>C, NM_001351287.2:c.271G>C, NM_001351287.1:c.271G>C, NP_037376.2:p.Ala91Pro, NP_001338220.1:p.Ala91Pro, NP_001338214.1:p.Ala91Pro, NP_001338215.1:p.Ala91Pro, NP_001338212.1:p.Ala120Pro, NP_001338213.1:p.Ala120Pro, NP_001338218.1:p.Ala91Pro, NP_001338211.1:p.Ala129Pro, NP_001338217.1:p.Ala91Pro, NP_001338216.1:p.Ala91Pro

                              15.

                              rs1451088024 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                12:85983656 (GRCh38)
                                12:86377434 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:85983655:T:C
                                Gene:
                                MGAT4C (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:

                                16.

                                rs1450767303 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TA>- [Show Flanks]
                                  Chromosome:
                                  12:85980109 (GRCh38)
                                  12:86373887 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:85980107:ATA:A
                                  Gene:
                                  MGAT4C (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,frameshift_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  -=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000012.12:g.85980109_85980110del, NC_000012.11:g.86373887_86373888del, NM_013244.5:c.617_618del, NM_013244.4:c.617_618del, NM_013244.3:c.617_618del, NM_001351291.2:c.617_618del, NM_001351291.1:c.617_618del, NM_001351285.2:c.617_618del, NM_001351285.1:c.617_618del, NM_001351286.2:c.617_618del, NM_001351286.1:c.617_618del, NM_001351283.2:c.704_705del, NM_001351283.1:c.704_705del, NM_001351284.2:c.704_705del, NM_001351284.1:c.704_705del, NM_001351289.2:c.617_618del, NM_001351289.1:c.617_618del, NM_001351282.2:c.731_732del, NM_001351282.1:c.731_732del, NM_001351288.2:c.617_618del, NM_001351288.1:c.617_618del, NM_001351287.2:c.617_618del, NM_001351287.1:c.617_618del, NP_037376.2:p.Tyr206fs, NP_001338220.1:p.Tyr206fs, NP_001338214.1:p.Tyr206fs, NP_001338215.1:p.Tyr206fs, NP_001338212.1:p.Tyr235fs, NP_001338213.1:p.Tyr235fs, NP_001338218.1:p.Tyr206fs, NP_001338211.1:p.Tyr244fs, NP_001338217.1:p.Tyr206fs, NP_001338216.1:p.Tyr206fs

                                  17.

                                  rs1448527931 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    12:85979748 (GRCh38)
                                    12:86373526 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:85979747:C:T
                                    Gene:
                                    MGAT4C (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:

                                    18.

                                    rs1448353294 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      12:85979986 (GRCh38)
                                      12:86373764 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:85979985:G:A
                                      Gene:
                                      MGAT4C (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,missense_variant
                                      HGVS:
                                      NC_000012.12:g.85979986G>A, NC_000012.11:g.86373764G>A, NM_013244.5:c.740C>T, NM_013244.4:c.740C>T, NM_013244.3:c.740C>T, NM_001351291.2:c.740C>T, NM_001351291.1:c.740C>T, NM_001351285.2:c.740C>T, NM_001351285.1:c.740C>T, NM_001351286.2:c.740C>T, NM_001351286.1:c.740C>T, NM_001351283.2:c.827C>T, NM_001351283.1:c.827C>T, NM_001351284.2:c.827C>T, NM_001351284.1:c.827C>T, NM_001351289.2:c.740C>T, NM_001351289.1:c.740C>T, NM_001351282.2:c.854C>T, NM_001351282.1:c.854C>T, NM_001351288.2:c.740C>T, NM_001351288.1:c.740C>T, NM_001351287.2:c.740C>T, NM_001351287.1:c.740C>T, NP_037376.2:p.Thr247Ile, NP_001338220.1:p.Thr247Ile, NP_001338214.1:p.Thr247Ile, NP_001338215.1:p.Thr247Ile, NP_001338212.1:p.Thr276Ile, NP_001338213.1:p.Thr276Ile, NP_001338218.1:p.Thr247Ile, NP_001338211.1:p.Thr285Ile, NP_001338217.1:p.Thr247Ile, NP_001338216.1:p.Thr247Ile

                                      19.

                                      rs1447033899 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        12:85980072 (GRCh38)
                                        12:86373850 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:85980071:G:T
                                        Gene:
                                        MGAT4C (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,intron_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000012.12:g.85980072G>T, NC_000012.11:g.86373850G>T, NM_013244.5:c.654C>A, NM_013244.4:c.654C>A, NM_013244.3:c.654C>A, NM_001351291.2:c.654C>A, NM_001351291.1:c.654C>A, NM_001351285.2:c.654C>A, NM_001351285.1:c.654C>A, NM_001351286.2:c.654C>A, NM_001351286.1:c.654C>A, NM_001351283.2:c.741C>A, NM_001351283.1:c.741C>A, NM_001351284.2:c.741C>A, NM_001351284.1:c.741C>A, NM_001351289.2:c.654C>A, NM_001351289.1:c.654C>A, NM_001351282.2:c.768C>A, NM_001351282.1:c.768C>A, NM_001351288.2:c.654C>A, NM_001351288.1:c.654C>A, NM_001351287.2:c.654C>A, NM_001351287.1:c.654C>A, NP_037376.2:p.Asp218Glu, NP_001338220.1:p.Asp218Glu, NP_001338214.1:p.Asp218Glu, NP_001338215.1:p.Asp218Glu, NP_001338212.1:p.Asp247Glu, NP_001338213.1:p.Asp247Glu, NP_001338218.1:p.Asp218Glu, NP_001338211.1:p.Asp256Glu, NP_001338217.1:p.Asp218Glu, NP_001338216.1:p.Asp218Glu

                                        20.

                                        rs1445634671 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          12:85979296 (GRCh38)
                                          12:86373074 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:85979295:G:T
                                          Gene:
                                          MGAT4C (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000011/3 (TOPMED)
                                          HGVS:
                                          NC_000012.12:g.85979296G>T, NC_000012.11:g.86373074G>T, NM_013244.5:c.1430C>A, NM_013244.4:c.1430C>A, NM_013244.3:c.1430C>A, NR_147093.3:n.1001C>A, NR_147093.2:n.1001C>A, NR_147093.1:n.1028C>A, NM_001351291.2:c.1430C>A, NM_001351291.1:c.1430C>A, NM_001351285.2:c.1430C>A, NM_001351285.1:c.1430C>A, NM_001351286.2:c.1430C>A, NM_001351286.1:c.1430C>A, NM_001351283.2:c.1517C>A, NM_001351283.1:c.1517C>A, NM_001351284.2:c.1517C>A, NM_001351284.1:c.1517C>A, NM_001351289.2:c.1430C>A, NM_001351289.1:c.1430C>A, NM_001351282.2:c.1544C>A, NM_001351282.1:c.1544C>A, NM_001351288.2:c.1430C>A, NM_001351288.1:c.1430C>A, NM_001351287.2:c.1430C>A, NM_001351287.1:c.1430C>A, NP_037376.2:p.Thr477Asn, NP_001338220.1:p.Thr477Asn, NP_001338214.1:p.Thr477Asn, NP_001338215.1:p.Thr477Asn, NP_001338212.1:p.Thr506Asn, NP_001338213.1:p.Thr506Asn, NP_001338218.1:p.Thr477Asn, NP_001338211.1:p.Thr515Asn, NP_001338217.1:p.Thr477Asn, NP_001338216.1:p.Thr477Asn

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