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Items: 1 to 20 of 251

1.

rs1490461860 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    3:15411260 (GRCh38)
    3:15452767 (GRCh37)
    Canonical SPDI:
    NC_000003.12:15411259:G:A
    Gene:
    METTL6 (Varview)
    Functional Consequence:
    coding_sequence_variant,intron_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000003.12:g.15411260G>A, NC_000003.11:g.15452767G>A, XM_005264867.5:c.851C>T, XM_005264867.4:c.851C>T, XM_005264867.3:c.851C>T, XM_005264867.2:c.851C>T, XM_005264867.1:c.851C>T, XM_006712970.5:c.851C>T, XM_006712970.4:c.851C>T, XM_006712970.3:c.851C>T, XM_006712970.2:c.851C>T, XM_006712970.1:c.851C>T, NM_152396.4:c.851C>T, NM_152396.3:c.851C>T, NM_152396.2:c.851C>T, XM_011533357.4:c.*141C>T, XM_011533357.3:c.*141C>T, XM_011533357.2:c.*141C>T, XM_017005718.3:c.851C>T, XM_017005718.2:c.851C>T, XM_017005718.1:c.851C>T, XM_017005719.2:c.716C>T, XM_017005719.1:c.716C>T, NM_001301792.2:c.*130C>T, NM_001301792.1:c.*130C>T, NM_001301790.2:c.716C>T, NM_001301790.1:c.716C>T, XM_047447452.1:c.*141C>T, XM_047447450.1:c.851C>T, XM_047447456.1:c.*141C>T, XP_005264924.1:p.Ser284Phe, XP_006713033.1:p.Ser284Phe, NP_689609.2:p.Ser284Phe, XP_016861207.1:p.Ser284Phe, XP_016861208.1:p.Ser239Phe, NP_001288719.1:p.Ser239Phe, XP_047303406.1:p.Ser284Phe

    2.

    rs1485311382 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      3:15426399 (GRCh38)
      3:15467906 (GRCh37)
      Canonical SPDI:
      NC_000003.12:15426398:T:C
      Gene:
      EAF1 (Varview), METTL6 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0.000047/1 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000003.12:g.15426399T>C, NC_000003.11:g.15467906T>C, XM_005264867.5:c.113A>G, XM_005264867.4:c.113A>G, XM_005264867.3:c.113A>G, XM_005264867.2:c.113A>G, XM_005264867.1:c.113A>G, XM_006712972.5:c.113A>G, XM_006712972.4:c.113A>G, XM_006712972.3:c.113A>G, XM_006712972.2:c.113A>G, XM_006712972.1:c.113A>G, XM_006712970.5:c.113A>G, XM_006712970.4:c.113A>G, XM_006712970.3:c.113A>G, XM_006712970.2:c.113A>G, XM_006712970.1:c.113A>G, NM_152396.4:c.113A>G, NM_152396.3:c.113A>G, NM_152396.2:c.113A>G, XM_011533357.4:c.113A>G, XM_011533357.3:c.113A>G, XM_011533357.2:c.113A>G, XM_011533357.1:c.113A>G, XM_017005718.3:c.113A>G, XM_017005718.2:c.113A>G, XM_017005718.1:c.113A>G, XM_017005724.3:c.113A>G, XM_017005724.2:c.113A>G, XM_017005724.1:c.113A>G, XM_017005719.2:c.113A>G, XM_017005719.1:c.113A>G, XM_017005723.2:c.113A>G, XM_017005723.1:c.113A>G, NM_001301792.2:c.113A>G, NM_001301792.1:c.113A>G, NM_001301790.2:c.113A>G, NM_001301790.1:c.113A>G, NM_001330662.2:c.113A>G, NM_001330662.1:c.113A>G, NM_001301791.2:c.113A>G, NM_001301791.1:c.113A>G, XM_047447452.1:c.113A>G, XM_047447450.1:c.113A>G, XM_047447456.1:c.113A>G, XM_047447451.1:c.113A>G, XM_047447455.1:c.113A>G, XM_047447454.1:c.113A>G, XM_047447453.1:c.113A>G, XP_005264924.1:p.Glu38Gly, XP_006713035.1:p.Glu38Gly, XP_006713033.1:p.Glu38Gly, NP_689609.2:p.Glu38Gly, XP_011531659.1:p.Glu38Gly, XP_016861207.1:p.Glu38Gly, XP_016861213.1:p.Glu38Gly, XP_016861208.1:p.Glu38Gly, XP_016861212.1:p.Glu38Gly, NP_001288721.1:p.Glu38Gly, NP_001288719.1:p.Glu38Gly, NP_001317591.1:p.Glu38Gly, NP_001288720.1:p.Glu38Gly, XP_047303408.1:p.Glu38Gly, XP_047303406.1:p.Glu38Gly, XP_047303412.1:p.Glu38Gly, XP_047303407.1:p.Glu38Gly, XP_047303411.1:p.Glu38Gly, XP_047303410.1:p.Glu38Gly, XP_047303409.1:p.Glu38Gly

      3.

      rs1483962886 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        3:15426311 (GRCh38)
        3:15467818 (GRCh37)
        Canonical SPDI:
        NC_000003.12:15426310:A:T
        Gene:
        EAF1 (Varview), METTL6 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000003.12:g.15426311A>T, NC_000003.11:g.15467818A>T, XM_005264867.5:c.201T>A, XM_005264867.4:c.201T>A, XM_005264867.3:c.201T>A, XM_005264867.2:c.201T>A, XM_005264867.1:c.201T>A, XM_006712972.5:c.201T>A, XM_006712972.4:c.201T>A, XM_006712972.3:c.201T>A, XM_006712972.2:c.201T>A, XM_006712972.1:c.201T>A, XM_006712970.5:c.201T>A, XM_006712970.4:c.201T>A, XM_006712970.3:c.201T>A, XM_006712970.2:c.201T>A, XM_006712970.1:c.201T>A, NM_152396.4:c.201T>A, NM_152396.3:c.201T>A, NM_152396.2:c.201T>A, XM_011533357.4:c.201T>A, XM_011533357.3:c.201T>A, XM_011533357.2:c.201T>A, XM_011533357.1:c.201T>A, XM_017005718.3:c.201T>A, XM_017005718.2:c.201T>A, XM_017005718.1:c.201T>A, XM_017005724.3:c.201T>A, XM_017005724.2:c.201T>A, XM_017005724.1:c.201T>A, XM_017005719.2:c.201T>A, XM_017005719.1:c.201T>A, XM_017005723.2:c.201T>A, XM_017005723.1:c.201T>A, NM_001301792.2:c.201T>A, NM_001301792.1:c.201T>A, NM_001301790.2:c.201T>A, NM_001301790.1:c.201T>A, NM_001330662.2:c.201T>A, NM_001330662.1:c.201T>A, NM_001301791.2:c.201T>A, NM_001301791.1:c.201T>A, XM_047447452.1:c.201T>A, XM_047447450.1:c.201T>A, XM_047447456.1:c.201T>A, XM_047447451.1:c.201T>A, XM_047447455.1:c.201T>A, XM_047447454.1:c.201T>A, XM_047447453.1:c.201T>A, XP_005264924.1:p.Phe67Leu, XP_006713035.1:p.Phe67Leu, XP_006713033.1:p.Phe67Leu, NP_689609.2:p.Phe67Leu, XP_011531659.1:p.Phe67Leu, XP_016861207.1:p.Phe67Leu, XP_016861213.1:p.Phe67Leu, XP_016861208.1:p.Phe67Leu, XP_016861212.1:p.Phe67Leu, NP_001288721.1:p.Phe67Leu, NP_001288719.1:p.Phe67Leu, NP_001317591.1:p.Phe67Leu, NP_001288720.1:p.Phe67Leu, XP_047303408.1:p.Phe67Leu, XP_047303406.1:p.Phe67Leu, XP_047303412.1:p.Phe67Leu, XP_047303407.1:p.Phe67Leu, XP_047303411.1:p.Phe67Leu, XP_047303410.1:p.Phe67Leu, XP_047303409.1:p.Phe67Leu

        4.

        rs1479782725 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          3:15415791 (GRCh38)
          3:15457298 (GRCh37)
          Canonical SPDI:
          NC_000003.12:15415790:A:G
          Gene:
          METTL6 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000003.12:g.15415791A>G, NC_000003.11:g.15457298A>G, XM_005264867.5:c.512T>C, XM_005264867.4:c.512T>C, XM_005264867.3:c.512T>C, XM_005264867.2:c.512T>C, XM_005264867.1:c.512T>C, XM_006712972.5:c.512T>C, XM_006712972.4:c.512T>C, XM_006712972.3:c.512T>C, XM_006712972.2:c.512T>C, XM_006712972.1:c.512T>C, XM_006712970.5:c.512T>C, XM_006712970.4:c.512T>C, XM_006712970.3:c.512T>C, XM_006712970.2:c.512T>C, XM_006712970.1:c.512T>C, NM_152396.4:c.512T>C, NM_152396.3:c.512T>C, NM_152396.2:c.512T>C, XM_011533357.4:c.512T>C, XM_011533357.3:c.512T>C, XM_011533357.2:c.512T>C, XM_011533357.1:c.512T>C, XM_017005718.3:c.512T>C, XM_017005718.2:c.512T>C, XM_017005718.1:c.512T>C, XM_017005724.3:c.512T>C, XM_017005724.2:c.512T>C, XM_017005724.1:c.512T>C, XM_017005719.2:c.377T>C, XM_017005719.1:c.377T>C, XM_017005723.2:c.377T>C, XM_017005723.1:c.377T>C, NM_001301792.2:c.512T>C, NM_001301792.1:c.512T>C, NM_001301790.2:c.377T>C, NM_001301790.1:c.377T>C, NM_001330662.2:c.512T>C, NM_001330662.1:c.512T>C, NM_001301791.2:c.512T>C, NM_001301791.1:c.512T>C, XM_047447452.1:c.512T>C, XM_047447450.1:c.512T>C, XM_047447456.1:c.377T>C, XM_047447451.1:c.512T>C, XM_047447455.1:c.377T>C, XM_047447454.1:c.377T>C, XM_047447453.1:c.512T>C, XP_005264924.1:p.Val171Ala, XP_006713035.1:p.Val171Ala, XP_006713033.1:p.Val171Ala, NP_689609.2:p.Val171Ala, XP_011531659.1:p.Val171Ala, XP_016861207.1:p.Val171Ala, XP_016861213.1:p.Val171Ala, XP_016861208.1:p.Val126Ala, XP_016861212.1:p.Val126Ala, NP_001288721.1:p.Val171Ala, NP_001288719.1:p.Val126Ala, NP_001317591.1:p.Val171Ala, NP_001288720.1:p.Val171Ala, XP_047303408.1:p.Val171Ala, XP_047303406.1:p.Val171Ala, XP_047303412.1:p.Val126Ala, XP_047303407.1:p.Val171Ala, XP_047303411.1:p.Val126Ala, XP_047303410.1:p.Val126Ala, XP_047303409.1:p.Val171Ala

          5.

          rs1478596671 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->T [Show Flanks]
            Chromosome:
            3:15414028 (GRCh38)
            3:15455536 (GRCh37)
            Canonical SPDI:
            NC_000003.12:15414028::T
            Gene:
            METTL6 (Varview)
            Functional Consequence:
            3_prime_UTR_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,frameshift_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            NC_000003.12:g.15414028_15414029insT, NC_000003.11:g.15455535_15455536insT, XM_005264867.5:c.665_666insA, XM_005264867.4:c.665_666insA, XM_005264867.3:c.665_666insA, XM_005264867.2:c.665_666insA, XM_005264867.1:c.665_666insA, XM_006712970.5:c.665_666insA, XM_006712970.4:c.665_666insA, XM_006712970.3:c.665_666insA, XM_006712970.2:c.665_666insA, XM_006712970.1:c.665_666insA, NM_152396.4:c.665_666insA, NM_152396.3:c.665_666insA, NM_152396.2:c.665_666insA, XM_017005718.3:c.665_666insA, XM_017005718.2:c.665_666insA, XM_017005718.1:c.665_666insA, XM_017005719.2:c.530_531insA, XM_017005719.1:c.530_531insA, NM_001301790.2:c.530_531insA, NM_001301790.1:c.530_531insA, NM_001330662.2:c.*780_*781insA, NM_001330662.1:c.*780_*781insA, XM_047447450.1:c.665_666insA, XM_047447451.1:c.*780_*781insA, XM_047447455.1:c.*780_*781insA, XM_047447453.1:c.*127_*128insA, XP_005264924.1:p.Phe222fs, XP_006713033.1:p.Phe222fs, NP_689609.2:p.Phe222fs, XP_016861207.1:p.Phe222fs, XP_016861208.1:p.Phe177fs, NP_001288719.1:p.Phe177fs, XP_047303406.1:p.Phe222fs

            6.

            rs1474408764 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              3:15414075 (GRCh38)
              3:15455582 (GRCh37)
              Canonical SPDI:
              NC_000003.12:15414074:C:G
              Gene:
              METTL6 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              NC_000003.12:g.15414075C>G, NC_000003.11:g.15455582C>G, XM_005264867.5:c.619G>C, XM_005264867.4:c.619G>C, XM_005264867.3:c.619G>C, XM_005264867.2:c.619G>C, XM_005264867.1:c.619G>C, XM_006712970.5:c.619G>C, XM_006712970.4:c.619G>C, XM_006712970.3:c.619G>C, XM_006712970.2:c.619G>C, XM_006712970.1:c.619G>C, NM_152396.4:c.619G>C, NM_152396.3:c.619G>C, NM_152396.2:c.619G>C, XM_017005718.3:c.619G>C, XM_017005718.2:c.619G>C, XM_017005718.1:c.619G>C, XM_017005719.2:c.484G>C, XM_017005719.1:c.484G>C, NM_001301790.2:c.484G>C, NM_001301790.1:c.484G>C, NM_001330662.2:c.*734G>C, NM_001330662.1:c.*734G>C, XM_047447450.1:c.619G>C, XM_047447451.1:c.*734G>C, XM_047447455.1:c.*734G>C, XM_047447453.1:c.*81G>C, XP_005264924.1:p.Gly207Arg, XP_006713033.1:p.Gly207Arg, NP_689609.2:p.Gly207Arg, XP_016861207.1:p.Gly207Arg, XP_016861208.1:p.Gly162Arg, NP_001288719.1:p.Gly162Arg, XP_047303406.1:p.Gly207Arg

              7.

              rs1473385120 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                3:15426483 (GRCh38)
                3:15467990 (GRCh37)
                Canonical SPDI:
                NC_000003.12:15426482:T:C
                Gene:
                EAF1 (Varview), METTL6 (Varview)
                Functional Consequence:
                missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000003.12:g.15426483T>C, NC_000003.11:g.15467990T>C, XM_005264867.5:c.29A>G, XM_005264867.4:c.29A>G, XM_005264867.3:c.29A>G, XM_005264867.2:c.29A>G, XM_005264867.1:c.29A>G, XM_006712972.5:c.29A>G, XM_006712972.4:c.29A>G, XM_006712972.3:c.29A>G, XM_006712972.2:c.29A>G, XM_006712972.1:c.29A>G, XM_006712970.5:c.29A>G, XM_006712970.4:c.29A>G, XM_006712970.3:c.29A>G, XM_006712970.2:c.29A>G, XM_006712970.1:c.29A>G, NM_152396.4:c.29A>G, NM_152396.3:c.29A>G, NM_152396.2:c.29A>G, XM_011533357.4:c.29A>G, XM_011533357.3:c.29A>G, XM_011533357.2:c.29A>G, XM_011533357.1:c.29A>G, XM_017005718.3:c.29A>G, XM_017005718.2:c.29A>G, XM_017005718.1:c.29A>G, XM_017005724.3:c.29A>G, XM_017005724.2:c.29A>G, XM_017005724.1:c.29A>G, XM_017005719.2:c.29A>G, XM_017005719.1:c.29A>G, XM_017005723.2:c.29A>G, XM_017005723.1:c.29A>G, NM_001301792.2:c.29A>G, NM_001301792.1:c.29A>G, NM_001301790.2:c.29A>G, NM_001301790.1:c.29A>G, NM_001330662.2:c.29A>G, NM_001330662.1:c.29A>G, NM_001301791.2:c.29A>G, NM_001301791.1:c.29A>G, XM_047447452.1:c.29A>G, XM_047447450.1:c.29A>G, XM_047447456.1:c.29A>G, XM_047447451.1:c.29A>G, XM_047447455.1:c.29A>G, XM_047447454.1:c.29A>G, XM_047447453.1:c.29A>G, XP_005264924.1:p.Gln10Arg, XP_006713035.1:p.Gln10Arg, XP_006713033.1:p.Gln10Arg, NP_689609.2:p.Gln10Arg, XP_011531659.1:p.Gln10Arg, XP_016861207.1:p.Gln10Arg, XP_016861213.1:p.Gln10Arg, XP_016861208.1:p.Gln10Arg, XP_016861212.1:p.Gln10Arg, NP_001288721.1:p.Gln10Arg, NP_001288719.1:p.Gln10Arg, NP_001317591.1:p.Gln10Arg, NP_001288720.1:p.Gln10Arg, XP_047303408.1:p.Gln10Arg, XP_047303406.1:p.Gln10Arg, XP_047303412.1:p.Gln10Arg, XP_047303407.1:p.Gln10Arg, XP_047303411.1:p.Gln10Arg, XP_047303410.1:p.Gln10Arg, XP_047303409.1:p.Gln10Arg

                8.

                rs1471540528 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  3:15411408 (GRCh38)
                  3:15452915 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:15411407:C:G
                  Gene:
                  METTL6 (Varview)
                  Functional Consequence:
                  missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  HGVS:
                  NC_000003.12:g.15411408C>G, NC_000003.11:g.15452915C>G, XM_005264867.5:c.703G>C, XM_005264867.4:c.703G>C, XM_005264867.3:c.703G>C, XM_005264867.2:c.703G>C, XM_005264867.1:c.703G>C, XM_006712970.5:c.703G>C, XM_006712970.4:c.703G>C, XM_006712970.3:c.703G>C, XM_006712970.2:c.703G>C, XM_006712970.1:c.703G>C, NM_152396.4:c.703G>C, NM_152396.3:c.703G>C, NM_152396.2:c.703G>C, XM_011533357.4:c.647G>C, XM_011533357.3:c.647G>C, XM_011533357.2:c.647G>C, XM_011533357.1:c.647G>C, XM_017005718.3:c.703G>C, XM_017005718.2:c.703G>C, XM_017005718.1:c.703G>C, XM_017005719.2:c.568G>C, XM_017005719.1:c.568G>C, NM_001301792.2:c.561G>C, NM_001301792.1:c.561G>C, NM_001301790.2:c.568G>C, NM_001301790.1:c.568G>C, XM_047447452.1:c.647G>C, XM_047447450.1:c.703G>C, XM_047447456.1:c.512G>C, XP_005264924.1:p.Gly235Arg, XP_006713033.1:p.Gly235Arg, NP_689609.2:p.Gly235Arg, XP_011531659.1:p.Arg216Thr, XP_016861207.1:p.Gly235Arg, XP_016861208.1:p.Gly190Arg, NP_001288721.1:p.Gln187His, NP_001288719.1:p.Gly190Arg, XP_047303408.1:p.Arg216Thr, XP_047303406.1:p.Gly235Arg, XP_047303412.1:p.Arg171Thr

                  9.

                  rs1469351690 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    3:15425028 (GRCh38)
                    3:15466535 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:15425027:G:T
                    Gene:
                    METTL6 (Varview)
                    Functional Consequence:
                    missense_variant,intron_variant,coding_sequence_variant
                    HGVS:
                    NC_000003.12:g.15425028G>T, NC_000003.11:g.15466535G>T, XM_005264867.5:c.287C>A, XM_005264867.4:c.287C>A, XM_005264867.3:c.287C>A, XM_005264867.2:c.287C>A, XM_005264867.1:c.287C>A, XM_006712972.5:c.287C>A, XM_006712972.4:c.287C>A, XM_006712972.3:c.287C>A, XM_006712972.2:c.287C>A, XM_006712972.1:c.287C>A, XM_006712970.5:c.287C>A, XM_006712970.4:c.287C>A, XM_006712970.3:c.287C>A, XM_006712970.2:c.287C>A, XM_006712970.1:c.287C>A, NM_152396.4:c.287C>A, NM_152396.3:c.287C>A, NM_152396.2:c.287C>A, XM_011533357.4:c.287C>A, XM_011533357.3:c.287C>A, XM_011533357.2:c.287C>A, XM_011533357.1:c.287C>A, XM_017005718.3:c.287C>A, XM_017005718.2:c.287C>A, XM_017005718.1:c.287C>A, XM_017005724.3:c.287C>A, XM_017005724.2:c.287C>A, XM_017005724.1:c.287C>A, NM_001301792.2:c.287C>A, NM_001301792.1:c.287C>A, NM_001330662.2:c.287C>A, NM_001330662.1:c.287C>A, NM_001301791.2:c.287C>A, NM_001301791.1:c.287C>A, XM_047447452.1:c.287C>A, XM_047447450.1:c.287C>A, XM_047447451.1:c.287C>A, XM_047447453.1:c.287C>A, XP_005264924.1:p.Pro96Gln, XP_006713035.1:p.Pro96Gln, XP_006713033.1:p.Pro96Gln, NP_689609.2:p.Pro96Gln, XP_011531659.1:p.Pro96Gln, XP_016861207.1:p.Pro96Gln, XP_016861213.1:p.Pro96Gln, NP_001288721.1:p.Pro96Gln, NP_001317591.1:p.Pro96Gln, NP_001288720.1:p.Pro96Gln, XP_047303408.1:p.Pro96Gln, XP_047303406.1:p.Pro96Gln, XP_047303407.1:p.Pro96Gln, XP_047303409.1:p.Pro96Gln

                    10.

                    rs1461509018 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      3:15426436 (GRCh38)
                      3:15467943 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:15426435:G:A,NC_000003.12:15426435:G:C
                      Gene:
                      EAF1 (Varview), METTL6 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,stop_gained
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      HGVS:
                      NC_000003.12:g.15426436G>A, NC_000003.12:g.15426436G>C, NC_000003.11:g.15467943G>A, NC_000003.11:g.15467943G>C, XM_005264867.5:c.76C>T, XM_005264867.5:c.76C>G, XM_005264867.4:c.76C>T, XM_005264867.4:c.76C>G, XM_005264867.3:c.76C>T, XM_005264867.3:c.76C>G, XM_005264867.2:c.76C>T, XM_005264867.2:c.76C>G, XM_005264867.1:c.76C>T, XM_005264867.1:c.76C>G, XM_006712972.5:c.76C>T, XM_006712972.5:c.76C>G, XM_006712972.4:c.76C>T, XM_006712972.4:c.76C>G, XM_006712972.3:c.76C>T, XM_006712972.3:c.76C>G, XM_006712972.2:c.76C>T, XM_006712972.2:c.76C>G, XM_006712972.1:c.76C>T, XM_006712972.1:c.76C>G, XM_006712970.5:c.76C>T, XM_006712970.5:c.76C>G, XM_006712970.4:c.76C>T, XM_006712970.4:c.76C>G, XM_006712970.3:c.76C>T, XM_006712970.3:c.76C>G, XM_006712970.2:c.76C>T, XM_006712970.2:c.76C>G, XM_006712970.1:c.76C>T, XM_006712970.1:c.76C>G, NM_152396.4:c.76C>T, NM_152396.4:c.76C>G, NM_152396.3:c.76C>T, NM_152396.3:c.76C>G, NM_152396.2:c.76C>T, NM_152396.2:c.76C>G, XM_011533357.4:c.76C>T, XM_011533357.4:c.76C>G, XM_011533357.3:c.76C>T, XM_011533357.3:c.76C>G, XM_011533357.2:c.76C>T, XM_011533357.2:c.76C>G, XM_011533357.1:c.76C>T, XM_011533357.1:c.76C>G, XM_017005718.3:c.76C>T, XM_017005718.3:c.76C>G, XM_017005718.2:c.76C>T, XM_017005718.2:c.76C>G, XM_017005718.1:c.76C>T, XM_017005718.1:c.76C>G, XM_017005724.3:c.76C>T, XM_017005724.3:c.76C>G, XM_017005724.2:c.76C>T, XM_017005724.2:c.76C>G, XM_017005724.1:c.76C>T, XM_017005724.1:c.76C>G, XM_017005719.2:c.76C>T, XM_017005719.2:c.76C>G, XM_017005719.1:c.76C>T, XM_017005719.1:c.76C>G, XM_017005723.2:c.76C>T, XM_017005723.2:c.76C>G, XM_017005723.1:c.76C>T, XM_017005723.1:c.76C>G, NM_001301792.2:c.76C>T, NM_001301792.2:c.76C>G, NM_001301792.1:c.76C>T, NM_001301792.1:c.76C>G, NM_001301790.2:c.76C>T, NM_001301790.2:c.76C>G, NM_001301790.1:c.76C>T, NM_001301790.1:c.76C>G, NM_001330662.2:c.76C>T, NM_001330662.2:c.76C>G, NM_001330662.1:c.76C>T, NM_001330662.1:c.76C>G, NM_001301791.2:c.76C>T, NM_001301791.2:c.76C>G, NM_001301791.1:c.76C>T, NM_001301791.1:c.76C>G, XM_047447452.1:c.76C>T, XM_047447452.1:c.76C>G, XM_047447450.1:c.76C>T, XM_047447450.1:c.76C>G, XM_047447456.1:c.76C>T, XM_047447456.1:c.76C>G, XM_047447451.1:c.76C>T, XM_047447451.1:c.76C>G, XM_047447455.1:c.76C>T, XM_047447455.1:c.76C>G, XM_047447454.1:c.76C>T, XM_047447454.1:c.76C>G, XM_047447453.1:c.76C>T, XM_047447453.1:c.76C>G, XP_005264924.1:p.Gln26Ter, XP_005264924.1:p.Gln26Glu, XP_006713035.1:p.Gln26Ter, XP_006713035.1:p.Gln26Glu, XP_006713033.1:p.Gln26Ter, XP_006713033.1:p.Gln26Glu, NP_689609.2:p.Gln26Ter, NP_689609.2:p.Gln26Glu, XP_011531659.1:p.Gln26Ter, XP_011531659.1:p.Gln26Glu, XP_016861207.1:p.Gln26Ter, XP_016861207.1:p.Gln26Glu, XP_016861213.1:p.Gln26Ter, XP_016861213.1:p.Gln26Glu, XP_016861208.1:p.Gln26Ter, XP_016861208.1:p.Gln26Glu, XP_016861212.1:p.Gln26Ter, XP_016861212.1:p.Gln26Glu, NP_001288721.1:p.Gln26Ter, NP_001288721.1:p.Gln26Glu, NP_001288719.1:p.Gln26Ter, NP_001288719.1:p.Gln26Glu, NP_001317591.1:p.Gln26Ter, NP_001317591.1:p.Gln26Glu, NP_001288720.1:p.Gln26Ter, NP_001288720.1:p.Gln26Glu, XP_047303408.1:p.Gln26Ter, XP_047303408.1:p.Gln26Glu, XP_047303406.1:p.Gln26Ter, XP_047303406.1:p.Gln26Glu, XP_047303412.1:p.Gln26Ter, XP_047303412.1:p.Gln26Glu, XP_047303407.1:p.Gln26Ter, XP_047303407.1:p.Gln26Glu, XP_047303411.1:p.Gln26Ter, XP_047303411.1:p.Gln26Glu, XP_047303410.1:p.Gln26Ter, XP_047303410.1:p.Gln26Glu, XP_047303409.1:p.Gln26Ter, XP_047303409.1:p.Gln26Glu

                      11.

                      rs1461089883 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        3:15425010 (GRCh38)
                        3:15466517 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:15425009:G:A
                        Gene:
                        METTL6 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        A=0.000011/3 (TOPMED)
                        A=0.000021/3 (GnomAD)
                        HGVS:
                        NC_000003.12:g.15425010G>A, NC_000003.11:g.15466517G>A, XM_005264867.5:c.305C>T, XM_005264867.4:c.305C>T, XM_005264867.3:c.305C>T, XM_005264867.2:c.305C>T, XM_005264867.1:c.305C>T, XM_006712972.5:c.305C>T, XM_006712972.4:c.305C>T, XM_006712972.3:c.305C>T, XM_006712972.2:c.305C>T, XM_006712972.1:c.305C>T, XM_006712970.5:c.305C>T, XM_006712970.4:c.305C>T, XM_006712970.3:c.305C>T, XM_006712970.2:c.305C>T, XM_006712970.1:c.305C>T, NM_152396.4:c.305C>T, NM_152396.3:c.305C>T, NM_152396.2:c.305C>T, XM_011533357.4:c.305C>T, XM_011533357.3:c.305C>T, XM_011533357.2:c.305C>T, XM_011533357.1:c.305C>T, XM_017005718.3:c.305C>T, XM_017005718.2:c.305C>T, XM_017005718.1:c.305C>T, XM_017005724.3:c.305C>T, XM_017005724.2:c.305C>T, XM_017005724.1:c.305C>T, NM_001301792.2:c.305C>T, NM_001301792.1:c.305C>T, NM_001330662.2:c.305C>T, NM_001330662.1:c.305C>T, NM_001301791.2:c.305C>T, NM_001301791.1:c.305C>T, XM_047447452.1:c.305C>T, XM_047447450.1:c.305C>T, XM_047447451.1:c.305C>T, XM_047447453.1:c.305C>T, XP_005264924.1:p.Pro102Leu, XP_006713035.1:p.Pro102Leu, XP_006713033.1:p.Pro102Leu, NP_689609.2:p.Pro102Leu, XP_011531659.1:p.Pro102Leu, XP_016861207.1:p.Pro102Leu, XP_016861213.1:p.Pro102Leu, NP_001288721.1:p.Pro102Leu, NP_001317591.1:p.Pro102Leu, NP_001288720.1:p.Pro102Leu, XP_047303408.1:p.Pro102Leu, XP_047303406.1:p.Pro102Leu, XP_047303407.1:p.Pro102Leu, XP_047303409.1:p.Pro102Leu

                        12.

                        rs1460991547 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          T>- [Show Flanks]
                          Chromosome:
                          3:15414154 (GRCh38)
                          3:15455661 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:15414153:TTTT:TTT
                          Gene:
                          METTL6 (Varview)
                          Functional Consequence:
                          terminator_codon_variant,frameshift_variant,coding_sequence_variant,intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          -=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000003.12:g.15414157del, NC_000003.11:g.15455664del, XM_005264867.5:c.540del, XM_005264867.4:c.540del, XM_005264867.3:c.540del, XM_005264867.2:c.540del, XM_005264867.1:c.540del, XM_006712970.5:c.540del, XM_006712970.4:c.540del, XM_006712970.3:c.540del, XM_006712970.2:c.540del, XM_006712970.1:c.540del, NM_152396.4:c.540del, NM_152396.3:c.540del, NM_152396.2:c.540del, XM_017005718.3:c.540del, XM_017005718.2:c.540del, XM_017005718.1:c.540del, XM_017005719.2:c.405del, XM_017005719.1:c.405del, NM_001301790.2:c.405del, NM_001301790.1:c.405del, NM_001330662.2:c.*655del, NM_001330662.1:c.*655del, XM_047447450.1:c.540del, XM_047447451.1:c.*655del, XM_047447455.1:c.*655del, XM_047447453.1:c.*2del, XP_005264924.1:p.Lys180fs, XP_006713033.1:p.Lys180fs, NP_689609.2:p.Lys180fs, XP_016861207.1:p.Lys180fs, XP_016861208.1:p.Lys135fs, NP_001288719.1:p.Lys135fs, XP_047303406.1:p.Lys180fs

                          13.

                          rs1460353699 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            3:15411322 (GRCh38)
                            3:15452829 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:15411321:C:G
                            Gene:
                            METTL6 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000019/5 (TOPMED)
                            HGVS:
                            NC_000003.12:g.15411322C>G, NC_000003.11:g.15452829C>G, XM_005264867.5:c.789G>C, XM_005264867.4:c.789G>C, XM_005264867.3:c.789G>C, XM_005264867.2:c.789G>C, XM_005264867.1:c.789G>C, XM_006712970.5:c.789G>C, XM_006712970.4:c.789G>C, XM_006712970.3:c.789G>C, XM_006712970.2:c.789G>C, XM_006712970.1:c.789G>C, NM_152396.4:c.789G>C, NM_152396.3:c.789G>C, NM_152396.2:c.789G>C, XM_011533357.4:c.*79G>C, XM_011533357.3:c.*79G>C, XM_011533357.2:c.*79G>C, XM_017005718.3:c.789G>C, XM_017005718.2:c.789G>C, XM_017005718.1:c.789G>C, XM_017005719.2:c.654G>C, XM_017005719.1:c.654G>C, NM_001301792.2:c.*68G>C, NM_001301792.1:c.*68G>C, NM_001301790.2:c.654G>C, NM_001301790.1:c.654G>C, XM_047447452.1:c.*79G>C, XM_047447450.1:c.789G>C, XM_047447456.1:c.*79G>C, XP_005264924.1:p.Gln263His, XP_006713033.1:p.Gln263His, NP_689609.2:p.Gln263His, XP_016861207.1:p.Gln263His, XP_016861208.1:p.Gln218His, NP_001288719.1:p.Gln218His, XP_047303406.1:p.Gln263His

                            14.

                            rs1459757033 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              3:15426472 (GRCh38)
                              3:15467979 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:15426471:G:A
                              Gene:
                              EAF1 (Varview), METTL6 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000068/17 (GnomAD_exomes)
                              A=0.000155/41 (TOPMED)
                              A=0.000157/22 (GnomAD)
                              HGVS:
                              NC_000003.12:g.15426472G>A, NC_000003.11:g.15467979G>A, XM_005264867.5:c.40C>T, XM_005264867.4:c.40C>T, XM_005264867.3:c.40C>T, XM_005264867.2:c.40C>T, XM_005264867.1:c.40C>T, XM_006712972.5:c.40C>T, XM_006712972.4:c.40C>T, XM_006712972.3:c.40C>T, XM_006712972.2:c.40C>T, XM_006712972.1:c.40C>T, XM_006712970.5:c.40C>T, XM_006712970.4:c.40C>T, XM_006712970.3:c.40C>T, XM_006712970.2:c.40C>T, XM_006712970.1:c.40C>T, NM_152396.4:c.40C>T, NM_152396.3:c.40C>T, NM_152396.2:c.40C>T, XM_011533357.4:c.40C>T, XM_011533357.3:c.40C>T, XM_011533357.2:c.40C>T, XM_011533357.1:c.40C>T, XM_017005718.3:c.40C>T, XM_017005718.2:c.40C>T, XM_017005718.1:c.40C>T, XM_017005724.3:c.40C>T, XM_017005724.2:c.40C>T, XM_017005724.1:c.40C>T, XM_017005719.2:c.40C>T, XM_017005719.1:c.40C>T, XM_017005723.2:c.40C>T, XM_017005723.1:c.40C>T, NM_001301792.2:c.40C>T, NM_001301792.1:c.40C>T, NM_001301790.2:c.40C>T, NM_001301790.1:c.40C>T, NM_001330662.2:c.40C>T, NM_001330662.1:c.40C>T, NM_001301791.2:c.40C>T, NM_001301791.1:c.40C>T, XM_047447452.1:c.40C>T, XM_047447450.1:c.40C>T, XM_047447456.1:c.40C>T, XM_047447451.1:c.40C>T, XM_047447455.1:c.40C>T, XM_047447454.1:c.40C>T, XM_047447453.1:c.40C>T, XP_005264924.1:p.Leu14Phe, XP_006713035.1:p.Leu14Phe, XP_006713033.1:p.Leu14Phe, NP_689609.2:p.Leu14Phe, XP_011531659.1:p.Leu14Phe, XP_016861207.1:p.Leu14Phe, XP_016861213.1:p.Leu14Phe, XP_016861208.1:p.Leu14Phe, XP_016861212.1:p.Leu14Phe, NP_001288721.1:p.Leu14Phe, NP_001288719.1:p.Leu14Phe, NP_001317591.1:p.Leu14Phe, NP_001288720.1:p.Leu14Phe, XP_047303408.1:p.Leu14Phe, XP_047303406.1:p.Leu14Phe, XP_047303412.1:p.Leu14Phe, XP_047303407.1:p.Leu14Phe, XP_047303411.1:p.Leu14Phe, XP_047303410.1:p.Leu14Phe, XP_047303409.1:p.Leu14Phe

                              15.

                              rs1457508702 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                3:15425044 (GRCh38)
                                3:15466551 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:15425043:C:T
                                Gene:
                                METTL6 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000003.12:g.15425044C>T, NC_000003.11:g.15466551C>T, XM_005264867.5:c.271G>A, XM_005264867.4:c.271G>A, XM_005264867.3:c.271G>A, XM_005264867.2:c.271G>A, XM_005264867.1:c.271G>A, XM_006712972.5:c.271G>A, XM_006712972.4:c.271G>A, XM_006712972.3:c.271G>A, XM_006712972.2:c.271G>A, XM_006712972.1:c.271G>A, XM_006712970.5:c.271G>A, XM_006712970.4:c.271G>A, XM_006712970.3:c.271G>A, XM_006712970.2:c.271G>A, XM_006712970.1:c.271G>A, NM_152396.4:c.271G>A, NM_152396.3:c.271G>A, NM_152396.2:c.271G>A, XM_011533357.4:c.271G>A, XM_011533357.3:c.271G>A, XM_011533357.2:c.271G>A, XM_011533357.1:c.271G>A, XM_017005718.3:c.271G>A, XM_017005718.2:c.271G>A, XM_017005718.1:c.271G>A, XM_017005724.3:c.271G>A, XM_017005724.2:c.271G>A, XM_017005724.1:c.271G>A, NM_001301792.2:c.271G>A, NM_001301792.1:c.271G>A, NM_001330662.2:c.271G>A, NM_001330662.1:c.271G>A, NM_001301791.2:c.271G>A, NM_001301791.1:c.271G>A, XM_047447452.1:c.271G>A, XM_047447450.1:c.271G>A, XM_047447451.1:c.271G>A, XM_047447453.1:c.271G>A, XP_005264924.1:p.Gly91Arg, XP_006713035.1:p.Gly91Arg, XP_006713033.1:p.Gly91Arg, NP_689609.2:p.Gly91Arg, XP_011531659.1:p.Gly91Arg, XP_016861207.1:p.Gly91Arg, XP_016861213.1:p.Gly91Arg, NP_001288721.1:p.Gly91Arg, NP_001317591.1:p.Gly91Arg, NP_001288720.1:p.Gly91Arg, XP_047303408.1:p.Gly91Arg, XP_047303406.1:p.Gly91Arg, XP_047303407.1:p.Gly91Arg, XP_047303409.1:p.Gly91Arg

                                16.

                                rs1453536879 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  3:15411311 (GRCh38)
                                  3:15452818 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:15411310:A:C
                                  Gene:
                                  METTL6 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000003.12:g.15411311A>C, NC_000003.11:g.15452818A>C, XM_005264867.5:c.800T>G, XM_005264867.4:c.800T>G, XM_005264867.3:c.800T>G, XM_005264867.2:c.800T>G, XM_005264867.1:c.800T>G, XM_006712970.5:c.800T>G, XM_006712970.4:c.800T>G, XM_006712970.3:c.800T>G, XM_006712970.2:c.800T>G, XM_006712970.1:c.800T>G, NM_152396.4:c.800T>G, NM_152396.3:c.800T>G, NM_152396.2:c.800T>G, XM_011533357.4:c.*90T>G, XM_011533357.3:c.*90T>G, XM_011533357.2:c.*90T>G, XM_017005718.3:c.800T>G, XM_017005718.2:c.800T>G, XM_017005718.1:c.800T>G, XM_017005719.2:c.665T>G, XM_017005719.1:c.665T>G, NM_001301792.2:c.*79T>G, NM_001301792.1:c.*79T>G, NM_001301790.2:c.665T>G, NM_001301790.1:c.665T>G, XM_047447452.1:c.*90T>G, XM_047447450.1:c.800T>G, XM_047447456.1:c.*90T>G, XP_005264924.1:p.Leu267Arg, XP_006713033.1:p.Leu267Arg, NP_689609.2:p.Leu267Arg, XP_016861207.1:p.Leu267Arg, XP_016861208.1:p.Leu222Arg, NP_001288719.1:p.Leu222Arg, XP_047303406.1:p.Leu267Arg

                                  17.

                                  rs1451046424 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    3:15414110 (GRCh38)
                                    3:15455617 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:15414109:T:C
                                    Gene:
                                    METTL6 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_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_000003.12:g.15414110T>C, NC_000003.11:g.15455617T>C, XM_005264867.5:c.584A>G, XM_005264867.4:c.584A>G, XM_005264867.3:c.584A>G, XM_005264867.2:c.584A>G, XM_005264867.1:c.584A>G, XM_006712970.5:c.584A>G, XM_006712970.4:c.584A>G, XM_006712970.3:c.584A>G, XM_006712970.2:c.584A>G, XM_006712970.1:c.584A>G, NM_152396.4:c.584A>G, NM_152396.3:c.584A>G, NM_152396.2:c.584A>G, XM_017005718.3:c.584A>G, XM_017005718.2:c.584A>G, XM_017005718.1:c.584A>G, XM_017005719.2:c.449A>G, XM_017005719.1:c.449A>G, NM_001301790.2:c.449A>G, NM_001301790.1:c.449A>G, NM_001330662.2:c.*699A>G, NM_001330662.1:c.*699A>G, XM_047447450.1:c.584A>G, XM_047447451.1:c.*699A>G, XM_047447455.1:c.*699A>G, XM_047447453.1:c.*46A>G, XP_005264924.1:p.His195Arg, XP_006713033.1:p.His195Arg, NP_689609.2:p.His195Arg, XP_016861207.1:p.His195Arg, XP_016861208.1:p.His150Arg, NP_001288719.1:p.His150Arg, XP_047303406.1:p.His195Arg

                                    18.

                                    rs1450328233 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      3:15415926 (GRCh38)
                                      3:15457433 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:15415925:T:C
                                      Gene:
                                      METTL6 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000003.12:g.15415926T>C, NC_000003.11:g.15457433T>C, XM_005264867.5:c.377A>G, XM_005264867.4:c.377A>G, XM_005264867.3:c.377A>G, XM_005264867.2:c.377A>G, XM_005264867.1:c.377A>G, XM_006712972.5:c.377A>G, XM_006712972.4:c.377A>G, XM_006712972.3:c.377A>G, XM_006712972.2:c.377A>G, XM_006712972.1:c.377A>G, XM_006712970.5:c.377A>G, XM_006712970.4:c.377A>G, XM_006712970.3:c.377A>G, XM_006712970.2:c.377A>G, XM_006712970.1:c.377A>G, NM_152396.4:c.377A>G, NM_152396.3:c.377A>G, NM_152396.2:c.377A>G, XM_011533357.4:c.377A>G, XM_011533357.3:c.377A>G, XM_011533357.2:c.377A>G, XM_011533357.1:c.377A>G, XM_017005718.3:c.377A>G, XM_017005718.2:c.377A>G, XM_017005718.1:c.377A>G, XM_017005724.3:c.377A>G, XM_017005724.2:c.377A>G, XM_017005724.1:c.377A>G, XM_017005719.2:c.242A>G, XM_017005719.1:c.242A>G, XM_017005723.2:c.242A>G, XM_017005723.1:c.242A>G, NM_001301792.2:c.377A>G, NM_001301792.1:c.377A>G, NM_001301790.2:c.242A>G, NM_001301790.1:c.242A>G, NM_001330662.2:c.377A>G, NM_001330662.1:c.377A>G, NM_001301791.2:c.377A>G, NM_001301791.1:c.377A>G, XM_047447452.1:c.377A>G, XM_047447450.1:c.377A>G, XM_047447456.1:c.242A>G, XM_047447451.1:c.377A>G, XM_047447455.1:c.242A>G, XM_047447454.1:c.242A>G, XM_047447453.1:c.377A>G, XP_005264924.1:p.Asp126Gly, XP_006713035.1:p.Asp126Gly, XP_006713033.1:p.Asp126Gly, NP_689609.2:p.Asp126Gly, XP_011531659.1:p.Asp126Gly, XP_016861207.1:p.Asp126Gly, XP_016861213.1:p.Asp126Gly, XP_016861208.1:p.Asp81Gly, XP_016861212.1:p.Asp81Gly, NP_001288721.1:p.Asp126Gly, NP_001288719.1:p.Asp81Gly, NP_001317591.1:p.Asp126Gly, NP_001288720.1:p.Asp126Gly, XP_047303408.1:p.Asp126Gly, XP_047303406.1:p.Asp126Gly, XP_047303412.1:p.Asp81Gly, XP_047303407.1:p.Asp126Gly, XP_047303411.1:p.Asp81Gly, XP_047303410.1:p.Asp81Gly, XP_047303409.1:p.Asp126Gly

                                      19.

                                      rs1444308750 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        3:15414064 (GRCh38)
                                        3:15455571 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:15414063:A:G
                                        Gene:
                                        METTL6 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,3_prime_UTR_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1434513225 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          3:15426429 (GRCh38)
                                          3:15467936 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:15426428:A:G
                                          Gene:
                                          EAF1 (Varview), METTL6 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000003.12:g.15426429A>G, NC_000003.11:g.15467936A>G, XM_005264867.5:c.83T>C, XM_005264867.4:c.83T>C, XM_005264867.3:c.83T>C, XM_005264867.2:c.83T>C, XM_005264867.1:c.83T>C, XM_006712972.5:c.83T>C, XM_006712972.4:c.83T>C, XM_006712972.3:c.83T>C, XM_006712972.2:c.83T>C, XM_006712972.1:c.83T>C, XM_006712970.5:c.83T>C, XM_006712970.4:c.83T>C, XM_006712970.3:c.83T>C, XM_006712970.2:c.83T>C, XM_006712970.1:c.83T>C, NM_152396.4:c.83T>C, NM_152396.3:c.83T>C, NM_152396.2:c.83T>C, XM_011533357.4:c.83T>C, XM_011533357.3:c.83T>C, XM_011533357.2:c.83T>C, XM_011533357.1:c.83T>C, XM_017005718.3:c.83T>C, XM_017005718.2:c.83T>C, XM_017005718.1:c.83T>C, XM_017005724.3:c.83T>C, XM_017005724.2:c.83T>C, XM_017005724.1:c.83T>C, XM_017005719.2:c.83T>C, XM_017005719.1:c.83T>C, XM_017005723.2:c.83T>C, XM_017005723.1:c.83T>C, NM_001301792.2:c.83T>C, NM_001301792.1:c.83T>C, NM_001301790.2:c.83T>C, NM_001301790.1:c.83T>C, NM_001330662.2:c.83T>C, NM_001330662.1:c.83T>C, NM_001301791.2:c.83T>C, NM_001301791.1:c.83T>C, XM_047447452.1:c.83T>C, XM_047447450.1:c.83T>C, XM_047447456.1:c.83T>C, XM_047447451.1:c.83T>C, XM_047447455.1:c.83T>C, XM_047447454.1:c.83T>C, XM_047447453.1:c.83T>C, XP_005264924.1:p.Leu28Ser, XP_006713035.1:p.Leu28Ser, XP_006713033.1:p.Leu28Ser, NP_689609.2:p.Leu28Ser, XP_011531659.1:p.Leu28Ser, XP_016861207.1:p.Leu28Ser, XP_016861213.1:p.Leu28Ser, XP_016861208.1:p.Leu28Ser, XP_016861212.1:p.Leu28Ser, NP_001288721.1:p.Leu28Ser, NP_001288719.1:p.Leu28Ser, NP_001317591.1:p.Leu28Ser, NP_001288720.1:p.Leu28Ser, XP_047303408.1:p.Leu28Ser, XP_047303406.1:p.Leu28Ser, XP_047303412.1:p.Leu28Ser, XP_047303407.1:p.Leu28Ser, XP_047303411.1:p.Leu28Ser, XP_047303410.1:p.Leu28Ser, XP_047303409.1:p.Leu28Ser

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