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Items: 1 to 20 of 629

1.

rs1489889293 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    7:87193312 (GRCh38)
    7:86822628 (GRCh37)
    Canonical SPDI:
    NC_000007.14:87193311:G:C
    Gene:
    DMTF1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency,by cluster
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000007.14:g.87193312G>C, NC_000007.13:g.86822628G>C, NG_029536.1:g.45952G>C, NM_021145.4:c.1609G>C, NM_021145.3:c.1609G>C, NR_024549.2:n.2054G>C, NR_024549.1:n.2146G>C, NR_024550.2:n.2015G>C, NR_024550.1:n.2107G>C, NM_001142327.2:c.1609G>C, NM_001142327.1:c.1609G>C, NM_001142326.2:c.1345G>C, NM_001142326.1:c.1345G>C, XM_011516739.4:c.1486G>C, XM_011516739.3:c.1486G>C, XM_011516739.2:c.1486G>C, XM_011516739.1:c.1486G>C, XM_017012870.3:c.1486G>C, XM_017012870.2:c.1486G>C, XM_017012870.1:c.1486G>C, XM_024447017.2:c.1609G>C, XM_024447017.1:c.1609G>C, XM_024447019.2:c.1609G>C, XM_024447019.1:c.1609G>C, XM_024447021.2:c.1609G>C, XM_024447021.1:c.1609G>C, XM_024447018.2:c.1609G>C, XM_024447018.1:c.1609G>C, XM_024447022.2:c.1609G>C, XM_024447022.1:c.1609G>C, XM_024447016.2:c.1609G>C, XM_024447016.1:c.1609G>C, XM_024447020.2:c.1609G>C, XM_024447020.1:c.1609G>C, XM_047421099.1:c.1609G>C, XM_047421106.1:c.1609G>C, XM_047421108.1:c.1609G>C, XM_047421107.1:c.1609G>C, XM_047421112.1:c.1609G>C, XM_047421111.1:c.1609G>C, XM_047421109.1:c.1609G>C, XM_047421102.1:c.1609G>C, XM_047421110.1:c.1609G>C, XM_047421123.1:c.1609G>C, XM_047421124.1:c.1609G>C, XM_047421113.1:c.1486G>C, XM_047421129.1:c.1609G>C, XM_047421114.1:c.1486G>C, XM_047421115.1:c.1486G>C, XM_047421101.1:c.1609G>C, XM_047421100.1:c.1609G>C, XM_047421104.1:c.1609G>C, XM_047421105.1:c.1609G>C, XM_047421125.1:c.1609G>C, XM_047421127.1:c.1609G>C, XM_047421120.1:c.1486G>C, XM_047421121.1:c.1486G>C, XM_047421116.1:c.1486G>C, XM_047421130.1:c.1609G>C, XM_047421103.1:c.1609G>C, XM_047421131.1:c.1609G>C, XM_011516737.1:c.1609G>C, XM_047421119.1:c.1486G>C, XM_047421126.1:c.1609G>C, XM_047421118.1:c.1486G>C, XM_017012868.1:c.1609G>C, XM_047421117.1:c.1486G>C, XM_047421133.1:c.1486G>C, XM_047421128.1:c.1609G>C, XM_047421134.1:c.1486G>C, XM_047421122.1:c.1609G>C, XM_047421132.1:c.1432G>C, XM_047421135.1:c.1432G>C, NP_066968.3:p.Ala537Pro, NP_001135799.1:p.Ala537Pro, NP_001135798.1:p.Ala449Pro, XP_011515041.1:p.Ala496Pro, XP_016868359.1:p.Ala496Pro, XP_024302785.1:p.Ala537Pro, XP_024302787.1:p.Ala537Pro, XP_024302789.1:p.Ala537Pro, XP_024302786.1:p.Ala537Pro, XP_024302790.1:p.Ala537Pro, XP_024302784.1:p.Ala537Pro, XP_024302788.1:p.Ala537Pro, XP_047277055.1:p.Ala537Pro, XP_047277062.1:p.Ala537Pro, XP_047277064.1:p.Ala537Pro, XP_047277063.1:p.Ala537Pro, XP_047277068.1:p.Ala537Pro, XP_047277067.1:p.Ala537Pro, XP_047277065.1:p.Ala537Pro, XP_047277058.1:p.Ala537Pro, XP_047277066.1:p.Ala537Pro, XP_047277079.1:p.Ala537Pro, XP_047277080.1:p.Ala537Pro, XP_047277069.1:p.Ala496Pro, XP_047277085.1:p.Ala537Pro, XP_047277070.1:p.Ala496Pro, XP_047277071.1:p.Ala496Pro, XP_047277057.1:p.Ala537Pro, XP_047277056.1:p.Ala537Pro, XP_047277060.1:p.Ala537Pro, XP_047277061.1:p.Ala537Pro, XP_047277081.1:p.Ala537Pro, XP_047277083.1:p.Ala537Pro, XP_047277076.1:p.Ala496Pro, XP_047277077.1:p.Ala496Pro, XP_047277072.1:p.Ala496Pro, XP_047277086.1:p.Ala537Pro, XP_047277059.1:p.Ala537Pro, XP_047277087.1:p.Ala537Pro, XP_011515039.1:p.Ala537Pro, XP_047277075.1:p.Ala496Pro, XP_047277082.1:p.Ala537Pro, XP_047277074.1:p.Ala496Pro, XP_016868357.1:p.Ala537Pro, XP_047277073.1:p.Ala496Pro, XP_047277089.1:p.Ala496Pro, XP_047277084.1:p.Ala537Pro, XP_047277090.1:p.Ala496Pro, XP_047277078.1:p.Ala537Pro, XP_047277088.1:p.Ala478Pro, XP_047277091.1:p.Ala478Pro

    2.

    rs1489551816 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C,G [Show Flanks]
      Chromosome:
      7:87193343 (GRCh38)
      7:86822659 (GRCh37)
      Canonical SPDI:
      NC_000007.14:87193342:A:C,NC_000007.14:87193342:A:G
      Gene:
      DMTF1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by cluster
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      G=0.000546/1 (Korea1K)
      HGVS:
      NC_000007.14:g.87193343A>C, NC_000007.14:g.87193343A>G, NC_000007.13:g.86822659A>C, NC_000007.13:g.86822659A>G, NG_029536.1:g.45983A>C, NG_029536.1:g.45983A>G, NM_021145.4:c.1640A>C, NM_021145.4:c.1640A>G, NM_021145.3:c.1640A>C, NM_021145.3:c.1640A>G, NR_024549.2:n.2085A>C, NR_024549.2:n.2085A>G, NR_024549.1:n.2177A>C, NR_024549.1:n.2177A>G, NR_024550.2:n.2046A>C, NR_024550.2:n.2046A>G, NR_024550.1:n.2138A>C, NR_024550.1:n.2138A>G, NM_001142327.2:c.1640A>C, NM_001142327.2:c.1640A>G, NM_001142327.1:c.1640A>C, NM_001142327.1:c.1640A>G, NM_001142326.2:c.1376A>C, NM_001142326.2:c.1376A>G, NM_001142326.1:c.1376A>C, NM_001142326.1:c.1376A>G, XM_011516739.4:c.1517A>C, XM_011516739.4:c.1517A>G, XM_011516739.3:c.1517A>C, XM_011516739.3:c.1517A>G, XM_011516739.2:c.1517A>C, XM_011516739.2:c.1517A>G, XM_011516739.1:c.1517A>C, XM_011516739.1:c.1517A>G, XM_017012870.3:c.1517A>C, XM_017012870.3:c.1517A>G, XM_017012870.2:c.1517A>C, XM_017012870.2:c.1517A>G, XM_017012870.1:c.1517A>C, XM_017012870.1:c.1517A>G, XM_024447017.2:c.1640A>C, XM_024447017.2:c.1640A>G, XM_024447017.1:c.1640A>C, XM_024447017.1:c.1640A>G, XM_024447019.2:c.1640A>C, XM_024447019.2:c.1640A>G, XM_024447019.1:c.1640A>C, XM_024447019.1:c.1640A>G, XM_024447021.2:c.1640A>C, XM_024447021.2:c.1640A>G, XM_024447021.1:c.1640A>C, XM_024447021.1:c.1640A>G, XM_024447018.2:c.1640A>C, XM_024447018.2:c.1640A>G, XM_024447018.1:c.1640A>C, XM_024447018.1:c.1640A>G, XM_024447022.2:c.1640A>C, XM_024447022.2:c.1640A>G, XM_024447022.1:c.1640A>C, XM_024447022.1:c.1640A>G, XM_024447016.2:c.1640A>C, XM_024447016.2:c.1640A>G, XM_024447016.1:c.1640A>C, XM_024447016.1:c.1640A>G, XM_024447020.2:c.1640A>C, XM_024447020.2:c.1640A>G, XM_024447020.1:c.1640A>C, XM_024447020.1:c.1640A>G, XM_047421099.1:c.1640A>C, XM_047421099.1:c.1640A>G, XM_047421106.1:c.1640A>C, XM_047421106.1:c.1640A>G, XM_047421108.1:c.1640A>C, XM_047421108.1:c.1640A>G, XM_047421107.1:c.1640A>C, XM_047421107.1:c.1640A>G, XM_047421112.1:c.1640A>C, XM_047421112.1:c.1640A>G, XM_047421111.1:c.1640A>C, XM_047421111.1:c.1640A>G, XM_047421109.1:c.1640A>C, XM_047421109.1:c.1640A>G, XM_047421102.1:c.1640A>C, XM_047421102.1:c.1640A>G, XM_047421110.1:c.1640A>C, XM_047421110.1:c.1640A>G, XM_047421123.1:c.1640A>C, XM_047421123.1:c.1640A>G, XM_047421124.1:c.1640A>C, XM_047421124.1:c.1640A>G, XM_047421113.1:c.1517A>C, XM_047421113.1:c.1517A>G, XM_047421129.1:c.1640A>C, XM_047421129.1:c.1640A>G, XM_047421114.1:c.1517A>C, XM_047421114.1:c.1517A>G, XM_047421115.1:c.1517A>C, XM_047421115.1:c.1517A>G, XM_047421101.1:c.1640A>C, XM_047421101.1:c.1640A>G, XM_047421100.1:c.1640A>C, XM_047421100.1:c.1640A>G, XM_047421104.1:c.1640A>C, XM_047421104.1:c.1640A>G, XM_047421105.1:c.1640A>C, XM_047421105.1:c.1640A>G, XM_047421125.1:c.1640A>C, XM_047421125.1:c.1640A>G, XM_047421127.1:c.1640A>C, XM_047421127.1:c.1640A>G, XM_047421120.1:c.1517A>C, XM_047421120.1:c.1517A>G, XM_047421121.1:c.1517A>C, XM_047421121.1:c.1517A>G, XM_047421116.1:c.1517A>C, XM_047421116.1:c.1517A>G, XM_047421130.1:c.1640A>C, XM_047421130.1:c.1640A>G, XM_047421103.1:c.1640A>C, XM_047421103.1:c.1640A>G, XM_047421131.1:c.1640A>C, XM_047421131.1:c.1640A>G, XM_011516737.1:c.1640A>C, XM_011516737.1:c.1640A>G, XM_047421119.1:c.1517A>C, XM_047421119.1:c.1517A>G, XM_047421126.1:c.1640A>C, XM_047421126.1:c.1640A>G, XM_047421118.1:c.1517A>C, XM_047421118.1:c.1517A>G, XM_017012868.1:c.1640A>C, XM_017012868.1:c.1640A>G, XM_047421117.1:c.1517A>C, XM_047421117.1:c.1517A>G, XM_047421133.1:c.1517A>C, XM_047421133.1:c.1517A>G, XM_047421128.1:c.1640A>C, XM_047421128.1:c.1640A>G, XM_047421134.1:c.1517A>C, XM_047421134.1:c.1517A>G, XM_047421122.1:c.1640A>C, XM_047421122.1:c.1640A>G, XM_047421132.1:c.1463A>C, XM_047421132.1:c.1463A>G, XM_047421135.1:c.1463A>C, XM_047421135.1:c.1463A>G, NP_066968.3:p.His547Pro, NP_066968.3:p.His547Arg, NP_001135799.1:p.His547Pro, NP_001135799.1:p.His547Arg, NP_001135798.1:p.His459Pro, NP_001135798.1:p.His459Arg, XP_011515041.1:p.His506Pro, XP_011515041.1:p.His506Arg, XP_016868359.1:p.His506Pro, XP_016868359.1:p.His506Arg, XP_024302785.1:p.His547Pro, XP_024302785.1:p.His547Arg, XP_024302787.1:p.His547Pro, XP_024302787.1:p.His547Arg, XP_024302789.1:p.His547Pro, XP_024302789.1:p.His547Arg, XP_024302786.1:p.His547Pro, XP_024302786.1:p.His547Arg, XP_024302790.1:p.His547Pro, XP_024302790.1:p.His547Arg, XP_024302784.1:p.His547Pro, XP_024302784.1:p.His547Arg, XP_024302788.1:p.His547Pro, XP_024302788.1:p.His547Arg, XP_047277055.1:p.His547Pro, XP_047277055.1:p.His547Arg, XP_047277062.1:p.His547Pro, XP_047277062.1:p.His547Arg, XP_047277064.1:p.His547Pro, XP_047277064.1:p.His547Arg, XP_047277063.1:p.His547Pro, XP_047277063.1:p.His547Arg, XP_047277068.1:p.His547Pro, XP_047277068.1:p.His547Arg, XP_047277067.1:p.His547Pro, XP_047277067.1:p.His547Arg, XP_047277065.1:p.His547Pro, XP_047277065.1:p.His547Arg, XP_047277058.1:p.His547Pro, XP_047277058.1:p.His547Arg, XP_047277066.1:p.His547Pro, XP_047277066.1:p.His547Arg, XP_047277079.1:p.His547Pro, XP_047277079.1:p.His547Arg, XP_047277080.1:p.His547Pro, XP_047277080.1:p.His547Arg, XP_047277069.1:p.His506Pro, XP_047277069.1:p.His506Arg, XP_047277085.1:p.His547Pro, XP_047277085.1:p.His547Arg, XP_047277070.1:p.His506Pro, XP_047277070.1:p.His506Arg, XP_047277071.1:p.His506Pro, XP_047277071.1:p.His506Arg, XP_047277057.1:p.His547Pro, XP_047277057.1:p.His547Arg, XP_047277056.1:p.His547Pro, XP_047277056.1:p.His547Arg, XP_047277060.1:p.His547Pro, XP_047277060.1:p.His547Arg, XP_047277061.1:p.His547Pro, XP_047277061.1:p.His547Arg, XP_047277081.1:p.His547Pro, XP_047277081.1:p.His547Arg, XP_047277083.1:p.His547Pro, XP_047277083.1:p.His547Arg, XP_047277076.1:p.His506Pro, XP_047277076.1:p.His506Arg, XP_047277077.1:p.His506Pro, XP_047277077.1:p.His506Arg, XP_047277072.1:p.His506Pro, XP_047277072.1:p.His506Arg, XP_047277086.1:p.His547Pro, XP_047277086.1:p.His547Arg, XP_047277059.1:p.His547Pro, XP_047277059.1:p.His547Arg, XP_047277087.1:p.His547Pro, XP_047277087.1:p.His547Arg, XP_011515039.1:p.His547Pro, XP_011515039.1:p.His547Arg, XP_047277075.1:p.His506Pro, XP_047277075.1:p.His506Arg, XP_047277082.1:p.His547Pro, XP_047277082.1:p.His547Arg, XP_047277074.1:p.His506Pro, XP_047277074.1:p.His506Arg, XP_016868357.1:p.His547Pro, XP_016868357.1:p.His547Arg, XP_047277073.1:p.His506Pro, XP_047277073.1:p.His506Arg, XP_047277089.1:p.His506Pro, XP_047277089.1:p.His506Arg, XP_047277084.1:p.His547Pro, XP_047277084.1:p.His547Arg, XP_047277090.1:p.His506Pro, XP_047277090.1:p.His506Arg, XP_047277078.1:p.His547Pro, XP_047277078.1:p.His547Arg, XP_047277088.1:p.His488Pro, XP_047277088.1:p.His488Arg, XP_047277091.1:p.His488Pro, XP_047277091.1:p.His488Arg

      3.

      rs1483739447 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        7:87193893 (GRCh38)
        7:86823209 (GRCh37)
        Canonical SPDI:
        NC_000007.14:87193892:C:T
        Gene:
        DMTF1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000007.14:g.87193893C>T, NC_000007.13:g.86823209C>T, NG_029536.1:g.46533C>T, NM_021145.4:c.1819C>T, NM_021145.3:c.1819C>T, NR_024549.2:n.2264C>T, NR_024549.1:n.2356C>T, NR_024550.2:n.2225C>T, NR_024550.1:n.2317C>T, NM_001142327.2:c.1819C>T, NM_001142327.1:c.1819C>T, NM_001142326.2:c.1555C>T, NM_001142326.1:c.1555C>T, XM_011516739.4:c.1696C>T, XM_011516739.3:c.1696C>T, XM_011516739.2:c.1696C>T, XM_011516739.1:c.1696C>T, XM_017012870.3:c.1696C>T, XM_017012870.2:c.1696C>T, XM_017012870.1:c.1696C>T, XM_024447017.2:c.1819C>T, XM_024447017.1:c.1819C>T, XM_024447019.2:c.1819C>T, XM_024447019.1:c.1819C>T, XM_024447021.2:c.1819C>T, XM_024447021.1:c.1819C>T, XM_024447018.2:c.1819C>T, XM_024447018.1:c.1819C>T, XM_024447022.2:c.1819C>T, XM_024447022.1:c.1819C>T, XM_024447016.2:c.1819C>T, XM_024447016.1:c.1819C>T, XM_024447020.2:c.1819C>T, XM_024447020.1:c.1819C>T, XM_047421099.1:c.1819C>T, XM_047421106.1:c.1819C>T, XM_047421108.1:c.1819C>T, XM_047421107.1:c.1819C>T, XM_047421112.1:c.1819C>T, XM_047421111.1:c.1819C>T, XM_047421109.1:c.1819C>T, XM_047421102.1:c.1819C>T, XM_047421110.1:c.1819C>T, XM_047421123.1:c.1819C>T, XM_047421124.1:c.1819C>T, XM_047421113.1:c.1696C>T, XM_047421129.1:c.1819C>T, XM_047421114.1:c.1696C>T, XM_047421115.1:c.1696C>T, XM_047421101.1:c.1819C>T, XM_047421100.1:c.1819C>T, XM_047421104.1:c.1819C>T, XM_047421105.1:c.1819C>T, XM_047421125.1:c.1819C>T, XM_047421127.1:c.1819C>T, XM_047421120.1:c.1696C>T, XM_047421121.1:c.1696C>T, XM_047421116.1:c.1696C>T, XM_047421130.1:c.1819C>T, XM_047421103.1:c.1819C>T, XM_047421131.1:c.1819C>T, XM_011516737.1:c.1819C>T, XM_047421119.1:c.1696C>T, XM_047421126.1:c.1819C>T, XM_047421118.1:c.1696C>T, XM_017012868.1:c.1819C>T, XM_047421117.1:c.1696C>T, XM_047421133.1:c.1696C>T, XM_047421128.1:c.1819C>T, XM_047421134.1:c.1696C>T, XM_047421122.1:c.1819C>T, XM_047421132.1:c.1642C>T, XM_047421135.1:c.1642C>T

        4.

        rs1483714961 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          7:87188167 (GRCh38)
          7:86817483 (GRCh37)
          Canonical SPDI:
          NC_000007.14:87188166:C:A,NC_000007.14:87188166:C:T
          Gene:
          DMTF1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000028/1 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000007.14:g.87188167C>A, NC_000007.14:g.87188167C>T, NC_000007.13:g.86817483C>A, NC_000007.13:g.86817483C>T, NG_029536.1:g.40807C>A, NG_029536.1:g.40807C>T, NM_021145.4:c.1277C>A, NM_021145.4:c.1277C>T, NM_021145.3:c.1277C>A, NM_021145.3:c.1277C>T, NR_024549.2:n.1722C>A, NR_024549.2:n.1722C>T, NR_024549.1:n.1814C>A, NR_024549.1:n.1814C>T, NR_024550.2:n.1683C>A, NR_024550.2:n.1683C>T, NR_024550.1:n.1775C>A, NR_024550.1:n.1775C>T, NM_001142327.2:c.1277C>A, NM_001142327.2:c.1277C>T, NM_001142327.1:c.1277C>A, NM_001142327.1:c.1277C>T, NM_001142326.2:c.1013C>A, NM_001142326.2:c.1013C>T, NM_001142326.1:c.1013C>A, NM_001142326.1:c.1013C>T, XM_011516739.4:c.1154C>A, XM_011516739.4:c.1154C>T, XM_011516739.3:c.1154C>A, XM_011516739.3:c.1154C>T, XM_011516739.2:c.1154C>A, XM_011516739.2:c.1154C>T, XM_011516739.1:c.1154C>A, XM_011516739.1:c.1154C>T, XM_017012870.3:c.1154C>A, XM_017012870.3:c.1154C>T, XM_017012870.2:c.1154C>A, XM_017012870.2:c.1154C>T, XM_017012870.1:c.1154C>A, XM_017012870.1:c.1154C>T, XM_024447017.2:c.1277C>A, XM_024447017.2:c.1277C>T, XM_024447017.1:c.1277C>A, XM_024447017.1:c.1277C>T, XM_024447019.2:c.1277C>A, XM_024447019.2:c.1277C>T, XM_024447019.1:c.1277C>A, XM_024447019.1:c.1277C>T, XM_024447021.2:c.1277C>A, XM_024447021.2:c.1277C>T, XM_024447021.1:c.1277C>A, XM_024447021.1:c.1277C>T, XM_024447018.2:c.1277C>A, XM_024447018.2:c.1277C>T, XM_024447018.1:c.1277C>A, XM_024447018.1:c.1277C>T, XM_024447022.2:c.1277C>A, XM_024447022.2:c.1277C>T, XM_024447022.1:c.1277C>A, XM_024447022.1:c.1277C>T, XM_024447016.2:c.1277C>A, XM_024447016.2:c.1277C>T, XM_024447016.1:c.1277C>A, XM_024447016.1:c.1277C>T, XM_024447020.2:c.1277C>A, XM_024447020.2:c.1277C>T, XM_024447020.1:c.1277C>A, XM_024447020.1:c.1277C>T, XM_047421099.1:c.1277C>A, XM_047421099.1:c.1277C>T, XM_047421106.1:c.1277C>A, XM_047421106.1:c.1277C>T, XM_047421108.1:c.1277C>A, XM_047421108.1:c.1277C>T, XM_047421107.1:c.1277C>A, XM_047421107.1:c.1277C>T, XM_047421112.1:c.1277C>A, XM_047421112.1:c.1277C>T, XM_047421111.1:c.1277C>A, XM_047421111.1:c.1277C>T, XM_047421109.1:c.1277C>A, XM_047421109.1:c.1277C>T, XM_047421102.1:c.1277C>A, XM_047421102.1:c.1277C>T, XM_047421110.1:c.1277C>A, XM_047421110.1:c.1277C>T, XM_047421123.1:c.1277C>A, XM_047421123.1:c.1277C>T, XM_047421124.1:c.1277C>A, XM_047421124.1:c.1277C>T, XM_047421113.1:c.1154C>A, XM_047421113.1:c.1154C>T, XM_047421129.1:c.1277C>A, XM_047421129.1:c.1277C>T, XM_047421114.1:c.1154C>A, XM_047421114.1:c.1154C>T, XM_047421115.1:c.1154C>A, XM_047421115.1:c.1154C>T, XM_047421101.1:c.1277C>A, XM_047421101.1:c.1277C>T, XM_047421100.1:c.1277C>A, XM_047421100.1:c.1277C>T, XM_047421104.1:c.1277C>A, XM_047421104.1:c.1277C>T, XM_047421105.1:c.1277C>A, XM_047421105.1:c.1277C>T, XM_047421125.1:c.1277C>A, XM_047421125.1:c.1277C>T, XM_047421127.1:c.1277C>A, XM_047421127.1:c.1277C>T, XM_047421120.1:c.1154C>A, XM_047421120.1:c.1154C>T, XM_047421121.1:c.1154C>A, XM_047421121.1:c.1154C>T, XM_047421116.1:c.1154C>A, XM_047421116.1:c.1154C>T, XM_047421130.1:c.1277C>A, XM_047421130.1:c.1277C>T, XM_047421103.1:c.1277C>A, XM_047421103.1:c.1277C>T, XM_047421131.1:c.1277C>A, XM_047421131.1:c.1277C>T, XM_011516737.1:c.1277C>A, XM_011516737.1:c.1277C>T, XM_047421119.1:c.1154C>A, XM_047421119.1:c.1154C>T, XM_047421126.1:c.1277C>A, XM_047421126.1:c.1277C>T, XM_047421118.1:c.1154C>A, XM_047421118.1:c.1154C>T, XM_017012868.1:c.1277C>A, XM_017012868.1:c.1277C>T, XM_047421117.1:c.1154C>A, XM_047421117.1:c.1154C>T, XM_047421133.1:c.1154C>A, XM_047421133.1:c.1154C>T, XM_047421128.1:c.1277C>A, XM_047421128.1:c.1277C>T, XM_047421134.1:c.1154C>A, XM_047421134.1:c.1154C>T, XM_047421122.1:c.1277C>A, XM_047421122.1:c.1277C>T, XM_047421132.1:c.1100C>A, XM_047421132.1:c.1100C>T, XM_047421135.1:c.1100C>A, XM_047421135.1:c.1100C>T, NP_066968.3:p.Ser426Tyr, NP_066968.3:p.Ser426Phe, NP_001135799.1:p.Ser426Tyr, NP_001135799.1:p.Ser426Phe, NP_001135798.1:p.Ser338Tyr, NP_001135798.1:p.Ser338Phe, XP_011515041.1:p.Ser385Tyr, XP_011515041.1:p.Ser385Phe, XP_016868359.1:p.Ser385Tyr, XP_016868359.1:p.Ser385Phe, XP_024302785.1:p.Ser426Tyr, XP_024302785.1:p.Ser426Phe, XP_024302787.1:p.Ser426Tyr, XP_024302787.1:p.Ser426Phe, XP_024302789.1:p.Ser426Tyr, XP_024302789.1:p.Ser426Phe, XP_024302786.1:p.Ser426Tyr, XP_024302786.1:p.Ser426Phe, XP_024302790.1:p.Ser426Tyr, XP_024302790.1:p.Ser426Phe, XP_024302784.1:p.Ser426Tyr, XP_024302784.1:p.Ser426Phe, XP_024302788.1:p.Ser426Tyr, XP_024302788.1:p.Ser426Phe, XP_047277055.1:p.Ser426Tyr, XP_047277055.1:p.Ser426Phe, XP_047277062.1:p.Ser426Tyr, XP_047277062.1:p.Ser426Phe, XP_047277064.1:p.Ser426Tyr, XP_047277064.1:p.Ser426Phe, XP_047277063.1:p.Ser426Tyr, XP_047277063.1:p.Ser426Phe, XP_047277068.1:p.Ser426Tyr, XP_047277068.1:p.Ser426Phe, XP_047277067.1:p.Ser426Tyr, XP_047277067.1:p.Ser426Phe, XP_047277065.1:p.Ser426Tyr, XP_047277065.1:p.Ser426Phe, XP_047277058.1:p.Ser426Tyr, XP_047277058.1:p.Ser426Phe, XP_047277066.1:p.Ser426Tyr, XP_047277066.1:p.Ser426Phe, XP_047277079.1:p.Ser426Tyr, XP_047277079.1:p.Ser426Phe, XP_047277080.1:p.Ser426Tyr, XP_047277080.1:p.Ser426Phe, XP_047277069.1:p.Ser385Tyr, XP_047277069.1:p.Ser385Phe, XP_047277085.1:p.Ser426Tyr, XP_047277085.1:p.Ser426Phe, XP_047277070.1:p.Ser385Tyr, XP_047277070.1:p.Ser385Phe, XP_047277071.1:p.Ser385Tyr, XP_047277071.1:p.Ser385Phe, XP_047277057.1:p.Ser426Tyr, XP_047277057.1:p.Ser426Phe, XP_047277056.1:p.Ser426Tyr, XP_047277056.1:p.Ser426Phe, XP_047277060.1:p.Ser426Tyr, XP_047277060.1:p.Ser426Phe, XP_047277061.1:p.Ser426Tyr, XP_047277061.1:p.Ser426Phe, XP_047277081.1:p.Ser426Tyr, XP_047277081.1:p.Ser426Phe, XP_047277083.1:p.Ser426Tyr, XP_047277083.1:p.Ser426Phe, XP_047277076.1:p.Ser385Tyr, XP_047277076.1:p.Ser385Phe, XP_047277077.1:p.Ser385Tyr, XP_047277077.1:p.Ser385Phe, XP_047277072.1:p.Ser385Tyr, XP_047277072.1:p.Ser385Phe, XP_047277086.1:p.Ser426Tyr, XP_047277086.1:p.Ser426Phe, XP_047277059.1:p.Ser426Tyr, XP_047277059.1:p.Ser426Phe, XP_047277087.1:p.Ser426Tyr, XP_047277087.1:p.Ser426Phe, XP_011515039.1:p.Ser426Tyr, XP_011515039.1:p.Ser426Phe, XP_047277075.1:p.Ser385Tyr, XP_047277075.1:p.Ser385Phe, XP_047277082.1:p.Ser426Tyr, XP_047277082.1:p.Ser426Phe, XP_047277074.1:p.Ser385Tyr, XP_047277074.1:p.Ser385Phe, XP_016868357.1:p.Ser426Tyr, XP_016868357.1:p.Ser426Phe, XP_047277073.1:p.Ser385Tyr, XP_047277073.1:p.Ser385Phe, XP_047277089.1:p.Ser385Tyr, XP_047277089.1:p.Ser385Phe, XP_047277084.1:p.Ser426Tyr, XP_047277084.1:p.Ser426Phe, XP_047277090.1:p.Ser385Tyr, XP_047277090.1:p.Ser385Phe, XP_047277078.1:p.Ser426Tyr, XP_047277078.1:p.Ser426Phe, XP_047277088.1:p.Ser367Tyr, XP_047277088.1:p.Ser367Phe, XP_047277091.1:p.Ser367Tyr, XP_047277091.1:p.Ser367Phe

          5.

          rs1482838541 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            7:87171038 (GRCh38)
            7:86800354 (GRCh37)
            Canonical SPDI:
            NC_000007.14:87171037:C:T
            Gene:
            DMTF1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000014/2 (GnomAD)
            HGVS:
            NC_000007.14:g.87171038C>T, NC_000007.13:g.86800354C>T, NG_029536.1:g.23678C>T, NM_021145.4:c.276C>T, NM_021145.3:c.276C>T, NR_024549.2:n.510C>T, NR_024549.1:n.602C>T, NR_024550.2:n.510C>T, NR_024550.1:n.602C>T, NM_001142327.2:c.276C>T, NM_001142327.1:c.276C>T, NM_001142326.2:c.12C>T, NM_001142326.1:c.12C>T, XM_011516739.4:c.153C>T, XM_011516739.3:c.153C>T, XM_011516739.2:c.153C>T, XM_011516739.1:c.153C>T, XM_017012870.3:c.153C>T, XM_017012870.2:c.153C>T, XM_017012870.1:c.153C>T, XM_024447017.2:c.276C>T, XM_024447017.1:c.276C>T, XM_024447019.2:c.276C>T, XM_024447019.1:c.276C>T, XM_024447021.2:c.276C>T, XM_024447021.1:c.276C>T, XM_024447018.2:c.276C>T, XM_024447018.1:c.276C>T, XM_024447022.2:c.276C>T, XM_024447022.1:c.276C>T, XM_024447016.2:c.276C>T, XM_024447016.1:c.276C>T, XM_024447020.2:c.276C>T, XM_024447020.1:c.276C>T, XM_047421099.1:c.276C>T, XM_047421106.1:c.276C>T, XM_047421108.1:c.276C>T, XM_047421107.1:c.276C>T, XM_047421112.1:c.276C>T, XM_047421111.1:c.276C>T, XM_047421109.1:c.276C>T, XM_047421102.1:c.276C>T, XM_047421110.1:c.276C>T, XM_047421123.1:c.276C>T, XM_047421124.1:c.276C>T, XM_047421113.1:c.153C>T, XM_047421129.1:c.276C>T, XM_047421114.1:c.153C>T, XM_047421115.1:c.153C>T, XM_047421101.1:c.276C>T, XM_047421100.1:c.276C>T, XM_047421104.1:c.276C>T, XM_047421105.1:c.276C>T, XM_047421125.1:c.276C>T, XM_047421127.1:c.276C>T, XM_047421120.1:c.153C>T, XM_047421121.1:c.153C>T, XM_047421116.1:c.153C>T, XM_047421130.1:c.276C>T, XM_047421103.1:c.276C>T, XM_047421131.1:c.276C>T, XM_011516737.1:c.276C>T, XM_047421119.1:c.153C>T, XM_047421126.1:c.276C>T, XM_047421118.1:c.153C>T, XM_017012868.1:c.276C>T, XM_047421117.1:c.153C>T, XM_047421133.1:c.153C>T, XM_047421128.1:c.276C>T, XM_047421134.1:c.153C>T, XM_047421122.1:c.276C>T, XM_047421132.1:c.99C>T, XM_047421135.1:c.99C>T

            6.

            rs1480828951 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              7:87185844 (GRCh38)
              7:86815160 (GRCh37)
              Canonical SPDI:
              NC_000007.14:87185843:T:C
              Gene:
              DMTF1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
              HGVS:
              NC_000007.14:g.87185844T>C, NC_000007.13:g.86815160T>C, NG_029536.1:g.38484T>C, NM_021145.4:c.1065T>C, NM_021145.3:c.1065T>C, NR_024549.2:n.1510T>C, NR_024549.1:n.1602T>C, NR_024550.2:n.1471T>C, NR_024550.1:n.1563T>C, NM_001142327.2:c.1065T>C, NM_001142327.1:c.1065T>C, NM_001142326.2:c.801T>C, NM_001142326.1:c.801T>C, XM_011516739.4:c.942T>C, XM_011516739.3:c.942T>C, XM_011516739.2:c.942T>C, XM_011516739.1:c.942T>C, XM_017012870.3:c.942T>C, XM_017012870.2:c.942T>C, XM_017012870.1:c.942T>C, XM_024447017.2:c.1065T>C, XM_024447017.1:c.1065T>C, XM_024447019.2:c.1065T>C, XM_024447019.1:c.1065T>C, XM_024447021.2:c.1065T>C, XM_024447021.1:c.1065T>C, XM_024447018.2:c.1065T>C, XM_024447018.1:c.1065T>C, XM_024447022.2:c.1065T>C, XM_024447022.1:c.1065T>C, XM_024447016.2:c.1065T>C, XM_024447016.1:c.1065T>C, XM_024447020.2:c.1065T>C, XM_024447020.1:c.1065T>C, XM_047421099.1:c.1065T>C, XM_047421106.1:c.1065T>C, XM_047421108.1:c.1065T>C, XM_047421107.1:c.1065T>C, XM_047421112.1:c.1065T>C, XM_047421111.1:c.1065T>C, XM_047421109.1:c.1065T>C, XM_047421102.1:c.1065T>C, XM_047421110.1:c.1065T>C, XM_047421123.1:c.1065T>C, XM_047421124.1:c.1065T>C, XM_047421113.1:c.942T>C, XM_047421129.1:c.1065T>C, XM_047421114.1:c.942T>C, XM_047421115.1:c.942T>C, XM_047421101.1:c.1065T>C, XM_047421100.1:c.1065T>C, XM_047421104.1:c.1065T>C, XM_047421105.1:c.1065T>C, XM_047421125.1:c.1065T>C, XM_047421127.1:c.1065T>C, XM_047421120.1:c.942T>C, XM_047421121.1:c.942T>C, XM_047421116.1:c.942T>C, XM_047421130.1:c.1065T>C, XM_047421103.1:c.1065T>C, XM_047421131.1:c.1065T>C, XM_011516737.1:c.1065T>C, XM_047421119.1:c.942T>C, XM_047421126.1:c.1065T>C, XM_047421118.1:c.942T>C, XM_017012868.1:c.1065T>C, XM_047421117.1:c.942T>C, XM_047421133.1:c.942T>C, XM_047421128.1:c.1065T>C, XM_047421134.1:c.942T>C, XM_047421122.1:c.1065T>C, XM_047421132.1:c.888T>C, XM_047421135.1:c.888T>C

              7.

              rs1480495544 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                7:87184520 (GRCh38)
                7:86813836 (GRCh37)
                Canonical SPDI:
                NC_000007.14:87184519:C:A
                Gene:
                DMTF1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000007.14:g.87184520C>A, NC_000007.13:g.86813836C>A, NG_029536.1:g.37160C>A, NM_021145.4:c.944C>A, NM_021145.3:c.944C>A, NR_024549.2:n.1389C>A, NR_024549.1:n.1481C>A, NR_024550.2:n.1350C>A, NR_024550.1:n.1442C>A, NM_001142327.2:c.944C>A, NM_001142327.1:c.944C>A, NM_001142326.2:c.680C>A, NM_001142326.1:c.680C>A, XM_011516739.4:c.821C>A, XM_011516739.3:c.821C>A, XM_011516739.2:c.821C>A, XM_011516739.1:c.821C>A, XM_017012870.3:c.821C>A, XM_017012870.2:c.821C>A, XM_017012870.1:c.821C>A, XM_024447017.2:c.944C>A, XM_024447017.1:c.944C>A, XM_024447019.2:c.944C>A, XM_024447019.1:c.944C>A, XM_024447021.2:c.944C>A, XM_024447021.1:c.944C>A, XM_024447018.2:c.944C>A, XM_024447018.1:c.944C>A, XM_024447022.2:c.944C>A, XM_024447022.1:c.944C>A, XM_024447016.2:c.944C>A, XM_024447016.1:c.944C>A, XM_024447020.2:c.944C>A, XM_024447020.1:c.944C>A, XM_047421099.1:c.944C>A, XM_047421106.1:c.944C>A, XM_047421108.1:c.944C>A, XM_047421107.1:c.944C>A, XM_047421112.1:c.944C>A, XM_047421111.1:c.944C>A, XM_047421109.1:c.944C>A, XM_047421102.1:c.944C>A, XM_047421110.1:c.944C>A, XM_047421123.1:c.944C>A, XM_047421124.1:c.944C>A, XM_047421113.1:c.821C>A, XM_047421129.1:c.944C>A, XM_047421114.1:c.821C>A, XM_047421115.1:c.821C>A, XM_047421101.1:c.944C>A, XM_047421100.1:c.944C>A, XM_047421104.1:c.944C>A, XM_047421105.1:c.944C>A, XM_047421125.1:c.944C>A, XM_047421127.1:c.944C>A, XM_047421120.1:c.821C>A, XM_047421121.1:c.821C>A, XM_047421116.1:c.821C>A, XM_047421130.1:c.944C>A, XM_047421103.1:c.944C>A, XM_047421131.1:c.944C>A, XM_011516737.1:c.944C>A, XM_047421119.1:c.821C>A, XM_047421126.1:c.944C>A, XM_047421118.1:c.821C>A, XM_017012868.1:c.944C>A, XM_047421117.1:c.821C>A, XM_047421133.1:c.821C>A, XM_047421128.1:c.944C>A, XM_047421134.1:c.821C>A, XM_047421122.1:c.944C>A, XM_047421132.1:c.767C>A, XM_047421135.1:c.767C>A, NP_066968.3:p.Thr315Asn, NP_001135799.1:p.Thr315Asn, NP_001135798.1:p.Thr227Asn, XP_011515041.1:p.Thr274Asn, XP_016868359.1:p.Thr274Asn, XP_024302785.1:p.Thr315Asn, XP_024302787.1:p.Thr315Asn, XP_024302789.1:p.Thr315Asn, XP_024302786.1:p.Thr315Asn, XP_024302790.1:p.Thr315Asn, XP_024302784.1:p.Thr315Asn, XP_024302788.1:p.Thr315Asn, XP_047277055.1:p.Thr315Asn, XP_047277062.1:p.Thr315Asn, XP_047277064.1:p.Thr315Asn, XP_047277063.1:p.Thr315Asn, XP_047277068.1:p.Thr315Asn, XP_047277067.1:p.Thr315Asn, XP_047277065.1:p.Thr315Asn, XP_047277058.1:p.Thr315Asn, XP_047277066.1:p.Thr315Asn, XP_047277079.1:p.Thr315Asn, XP_047277080.1:p.Thr315Asn, XP_047277069.1:p.Thr274Asn, XP_047277085.1:p.Thr315Asn, XP_047277070.1:p.Thr274Asn, XP_047277071.1:p.Thr274Asn, XP_047277057.1:p.Thr315Asn, XP_047277056.1:p.Thr315Asn, XP_047277060.1:p.Thr315Asn, XP_047277061.1:p.Thr315Asn, XP_047277081.1:p.Thr315Asn, XP_047277083.1:p.Thr315Asn, XP_047277076.1:p.Thr274Asn, XP_047277077.1:p.Thr274Asn, XP_047277072.1:p.Thr274Asn, XP_047277086.1:p.Thr315Asn, XP_047277059.1:p.Thr315Asn, XP_047277087.1:p.Thr315Asn, XP_011515039.1:p.Thr315Asn, XP_047277075.1:p.Thr274Asn, XP_047277082.1:p.Thr315Asn, XP_047277074.1:p.Thr274Asn, XP_016868357.1:p.Thr315Asn, XP_047277073.1:p.Thr274Asn, XP_047277089.1:p.Thr274Asn, XP_047277084.1:p.Thr315Asn, XP_047277090.1:p.Thr274Asn, XP_047277078.1:p.Thr315Asn, XP_047277088.1:p.Thr256Asn, XP_047277091.1:p.Thr256Asn

                8.

                rs1479734018 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  7:87193804 (GRCh38)
                  7:86823120 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:87193803:C:T
                  Gene:
                  DMTF1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000007.14:g.87193804C>T, NC_000007.13:g.86823120C>T, NG_029536.1:g.46444C>T, NM_021145.4:c.1730C>T, NM_021145.3:c.1730C>T, NR_024549.2:n.2175C>T, NR_024549.1:n.2267C>T, NR_024550.2:n.2136C>T, NR_024550.1:n.2228C>T, NM_001142327.2:c.1730C>T, NM_001142327.1:c.1730C>T, NM_001142326.2:c.1466C>T, NM_001142326.1:c.1466C>T, XM_011516739.4:c.1607C>T, XM_011516739.3:c.1607C>T, XM_011516739.2:c.1607C>T, XM_011516739.1:c.1607C>T, XM_017012870.3:c.1607C>T, XM_017012870.2:c.1607C>T, XM_017012870.1:c.1607C>T, XM_024447017.2:c.1730C>T, XM_024447017.1:c.1730C>T, XM_024447019.2:c.1730C>T, XM_024447019.1:c.1730C>T, XM_024447021.2:c.1730C>T, XM_024447021.1:c.1730C>T, XM_024447018.2:c.1730C>T, XM_024447018.1:c.1730C>T, XM_024447022.2:c.1730C>T, XM_024447022.1:c.1730C>T, XM_024447016.2:c.1730C>T, XM_024447016.1:c.1730C>T, XM_024447020.2:c.1730C>T, XM_024447020.1:c.1730C>T, XM_047421099.1:c.1730C>T, XM_047421106.1:c.1730C>T, XM_047421108.1:c.1730C>T, XM_047421107.1:c.1730C>T, XM_047421112.1:c.1730C>T, XM_047421111.1:c.1730C>T, XM_047421109.1:c.1730C>T, XM_047421102.1:c.1730C>T, XM_047421110.1:c.1730C>T, XM_047421123.1:c.1730C>T, XM_047421124.1:c.1730C>T, XM_047421113.1:c.1607C>T, XM_047421129.1:c.1730C>T, XM_047421114.1:c.1607C>T, XM_047421115.1:c.1607C>T, XM_047421101.1:c.1730C>T, XM_047421100.1:c.1730C>T, XM_047421104.1:c.1730C>T, XM_047421105.1:c.1730C>T, XM_047421125.1:c.1730C>T, XM_047421127.1:c.1730C>T, XM_047421120.1:c.1607C>T, XM_047421121.1:c.1607C>T, XM_047421116.1:c.1607C>T, XM_047421130.1:c.1730C>T, XM_047421103.1:c.1730C>T, XM_047421131.1:c.1730C>T, XM_011516737.1:c.1730C>T, XM_047421119.1:c.1607C>T, XM_047421126.1:c.1730C>T, XM_047421118.1:c.1607C>T, XM_017012868.1:c.1730C>T, XM_047421117.1:c.1607C>T, XM_047421133.1:c.1607C>T, XM_047421128.1:c.1730C>T, XM_047421134.1:c.1607C>T, XM_047421122.1:c.1730C>T, XM_047421132.1:c.1553C>T, XM_047421135.1:c.1553C>T, NP_066968.3:p.Thr577Ile, NP_001135799.1:p.Thr577Ile, NP_001135798.1:p.Thr489Ile, XP_011515041.1:p.Thr536Ile, XP_016868359.1:p.Thr536Ile, XP_024302785.1:p.Thr577Ile, XP_024302787.1:p.Thr577Ile, XP_024302789.1:p.Thr577Ile, XP_024302786.1:p.Thr577Ile, XP_024302790.1:p.Thr577Ile, XP_024302784.1:p.Thr577Ile, XP_024302788.1:p.Thr577Ile, XP_047277055.1:p.Thr577Ile, XP_047277062.1:p.Thr577Ile, XP_047277064.1:p.Thr577Ile, XP_047277063.1:p.Thr577Ile, XP_047277068.1:p.Thr577Ile, XP_047277067.1:p.Thr577Ile, XP_047277065.1:p.Thr577Ile, XP_047277058.1:p.Thr577Ile, XP_047277066.1:p.Thr577Ile, XP_047277079.1:p.Thr577Ile, XP_047277080.1:p.Thr577Ile, XP_047277069.1:p.Thr536Ile, XP_047277085.1:p.Thr577Ile, XP_047277070.1:p.Thr536Ile, XP_047277071.1:p.Thr536Ile, XP_047277057.1:p.Thr577Ile, XP_047277056.1:p.Thr577Ile, XP_047277060.1:p.Thr577Ile, XP_047277061.1:p.Thr577Ile, XP_047277081.1:p.Thr577Ile, XP_047277083.1:p.Thr577Ile, XP_047277076.1:p.Thr536Ile, XP_047277077.1:p.Thr536Ile, XP_047277072.1:p.Thr536Ile, XP_047277086.1:p.Thr577Ile, XP_047277059.1:p.Thr577Ile, XP_047277087.1:p.Thr577Ile, XP_011515039.1:p.Thr577Ile, XP_047277075.1:p.Thr536Ile, XP_047277082.1:p.Thr577Ile, XP_047277074.1:p.Thr536Ile, XP_016868357.1:p.Thr577Ile, XP_047277073.1:p.Thr536Ile, XP_047277089.1:p.Thr536Ile, XP_047277084.1:p.Thr577Ile, XP_047277090.1:p.Thr536Ile, XP_047277078.1:p.Thr577Ile, XP_047277088.1:p.Thr518Ile, XP_047277091.1:p.Thr518Ile

                  9.

                  rs1479251402 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    7:87173644 (GRCh38)
                    7:86802960 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:87173643:A:G
                    Gene:
                    DMTF1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000007.14:g.87173644A>G, NC_000007.13:g.86802960A>G, NG_029536.1:g.26284A>G, NM_021145.4:c.437A>G, NM_021145.3:c.437A>G, NR_024549.2:n.671A>G, NR_024549.1:n.763A>G, NR_024550.2:n.671A>G, NR_024550.1:n.763A>G, NM_001142327.2:c.437A>G, NM_001142327.1:c.437A>G, NM_001142326.2:c.173A>G, NM_001142326.1:c.173A>G, XM_011516739.4:c.314A>G, XM_011516739.3:c.314A>G, XM_011516739.2:c.314A>G, XM_011516739.1:c.314A>G, XM_017012870.3:c.314A>G, XM_017012870.2:c.314A>G, XM_017012870.1:c.314A>G, XM_024447017.2:c.437A>G, XM_024447017.1:c.437A>G, XM_024447019.2:c.437A>G, XM_024447019.1:c.437A>G, XM_024447021.2:c.437A>G, XM_024447021.1:c.437A>G, XM_024447018.2:c.437A>G, XM_024447018.1:c.437A>G, XM_024447022.2:c.437A>G, XM_024447022.1:c.437A>G, XM_024447016.2:c.437A>G, XM_024447016.1:c.437A>G, XM_024447020.2:c.437A>G, XM_024447020.1:c.437A>G, XM_047421099.1:c.437A>G, XM_047421106.1:c.437A>G, XM_047421108.1:c.437A>G, XM_047421107.1:c.437A>G, XM_047421112.1:c.437A>G, XM_047421111.1:c.437A>G, XM_047421109.1:c.437A>G, XM_047421102.1:c.437A>G, XM_047421110.1:c.437A>G, XM_047421123.1:c.437A>G, XM_047421124.1:c.437A>G, XM_047421113.1:c.314A>G, XM_047421129.1:c.437A>G, XM_047421114.1:c.314A>G, XM_047421115.1:c.314A>G, XM_047421101.1:c.437A>G, XM_047421100.1:c.437A>G, XM_047421104.1:c.437A>G, XM_047421105.1:c.437A>G, XM_047421125.1:c.437A>G, XM_047421127.1:c.437A>G, XM_047421120.1:c.314A>G, XM_047421121.1:c.314A>G, XM_047421116.1:c.314A>G, XM_047421130.1:c.437A>G, XM_047421103.1:c.437A>G, XM_047421131.1:c.437A>G, XM_011516737.1:c.437A>G, XM_047421119.1:c.314A>G, XM_047421126.1:c.437A>G, XM_047421118.1:c.314A>G, XM_017012868.1:c.437A>G, XM_047421117.1:c.314A>G, XM_047421133.1:c.314A>G, XM_047421128.1:c.437A>G, XM_047421134.1:c.314A>G, XM_047421122.1:c.437A>G, XM_047421132.1:c.260A>G, XM_047421135.1:c.260A>G, NP_066968.3:p.Asn146Ser, NP_001135799.1:p.Asn146Ser, NP_001135798.1:p.Asn58Ser, XP_011515041.1:p.Asn105Ser, XP_016868359.1:p.Asn105Ser, XP_024302785.1:p.Asn146Ser, XP_024302787.1:p.Asn146Ser, XP_024302789.1:p.Asn146Ser, XP_024302786.1:p.Asn146Ser, XP_024302790.1:p.Asn146Ser, XP_024302784.1:p.Asn146Ser, XP_024302788.1:p.Asn146Ser, XP_047277055.1:p.Asn146Ser, XP_047277062.1:p.Asn146Ser, XP_047277064.1:p.Asn146Ser, XP_047277063.1:p.Asn146Ser, XP_047277068.1:p.Asn146Ser, XP_047277067.1:p.Asn146Ser, XP_047277065.1:p.Asn146Ser, XP_047277058.1:p.Asn146Ser, XP_047277066.1:p.Asn146Ser, XP_047277079.1:p.Asn146Ser, XP_047277080.1:p.Asn146Ser, XP_047277069.1:p.Asn105Ser, XP_047277085.1:p.Asn146Ser, XP_047277070.1:p.Asn105Ser, XP_047277071.1:p.Asn105Ser, XP_047277057.1:p.Asn146Ser, XP_047277056.1:p.Asn146Ser, XP_047277060.1:p.Asn146Ser, XP_047277061.1:p.Asn146Ser, XP_047277081.1:p.Asn146Ser, XP_047277083.1:p.Asn146Ser, XP_047277076.1:p.Asn105Ser, XP_047277077.1:p.Asn105Ser, XP_047277072.1:p.Asn105Ser, XP_047277086.1:p.Asn146Ser, XP_047277059.1:p.Asn146Ser, XP_047277087.1:p.Asn146Ser, XP_011515039.1:p.Asn146Ser, XP_047277075.1:p.Asn105Ser, XP_047277082.1:p.Asn146Ser, XP_047277074.1:p.Asn105Ser, XP_016868357.1:p.Asn146Ser, XP_047277073.1:p.Asn105Ser, XP_047277089.1:p.Asn105Ser, XP_047277084.1:p.Asn146Ser, XP_047277090.1:p.Asn105Ser, XP_047277078.1:p.Asn146Ser, XP_047277088.1:p.Asn87Ser, XP_047277091.1:p.Asn87Ser

                    10.

                    rs1473408229 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      7:87193816 (GRCh38)
                      7:86823132 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:87193815:C:T
                      Gene:
                      DMTF1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000007.14:g.87193816C>T, NC_000007.13:g.86823132C>T, NG_029536.1:g.46456C>T, NM_021145.4:c.1742C>T, NM_021145.3:c.1742C>T, NR_024549.2:n.2187C>T, NR_024549.1:n.2279C>T, NR_024550.2:n.2148C>T, NR_024550.1:n.2240C>T, NM_001142327.2:c.1742C>T, NM_001142327.1:c.1742C>T, NM_001142326.2:c.1478C>T, NM_001142326.1:c.1478C>T, XM_011516739.4:c.1619C>T, XM_011516739.3:c.1619C>T, XM_011516739.2:c.1619C>T, XM_011516739.1:c.1619C>T, XM_017012870.3:c.1619C>T, XM_017012870.2:c.1619C>T, XM_017012870.1:c.1619C>T, XM_024447017.2:c.1742C>T, XM_024447017.1:c.1742C>T, XM_024447019.2:c.1742C>T, XM_024447019.1:c.1742C>T, XM_024447021.2:c.1742C>T, XM_024447021.1:c.1742C>T, XM_024447018.2:c.1742C>T, XM_024447018.1:c.1742C>T, XM_024447022.2:c.1742C>T, XM_024447022.1:c.1742C>T, XM_024447016.2:c.1742C>T, XM_024447016.1:c.1742C>T, XM_024447020.2:c.1742C>T, XM_024447020.1:c.1742C>T, XM_047421099.1:c.1742C>T, XM_047421106.1:c.1742C>T, XM_047421108.1:c.1742C>T, XM_047421107.1:c.1742C>T, XM_047421112.1:c.1742C>T, XM_047421111.1:c.1742C>T, XM_047421109.1:c.1742C>T, XM_047421102.1:c.1742C>T, XM_047421110.1:c.1742C>T, XM_047421123.1:c.1742C>T, XM_047421124.1:c.1742C>T, XM_047421113.1:c.1619C>T, XM_047421129.1:c.1742C>T, XM_047421114.1:c.1619C>T, XM_047421115.1:c.1619C>T, XM_047421101.1:c.1742C>T, XM_047421100.1:c.1742C>T, XM_047421104.1:c.1742C>T, XM_047421105.1:c.1742C>T, XM_047421125.1:c.1742C>T, XM_047421127.1:c.1742C>T, XM_047421120.1:c.1619C>T, XM_047421121.1:c.1619C>T, XM_047421116.1:c.1619C>T, XM_047421130.1:c.1742C>T, XM_047421103.1:c.1742C>T, XM_047421131.1:c.1742C>T, XM_011516737.1:c.1742C>T, XM_047421119.1:c.1619C>T, XM_047421126.1:c.1742C>T, XM_047421118.1:c.1619C>T, XM_017012868.1:c.1742C>T, XM_047421117.1:c.1619C>T, XM_047421133.1:c.1619C>T, XM_047421128.1:c.1742C>T, XM_047421134.1:c.1619C>T, XM_047421122.1:c.1742C>T, XM_047421132.1:c.1565C>T, XM_047421135.1:c.1565C>T, NP_066968.3:p.Thr581Ile, NP_001135799.1:p.Thr581Ile, NP_001135798.1:p.Thr493Ile, XP_011515041.1:p.Thr540Ile, XP_016868359.1:p.Thr540Ile, XP_024302785.1:p.Thr581Ile, XP_024302787.1:p.Thr581Ile, XP_024302789.1:p.Thr581Ile, XP_024302786.1:p.Thr581Ile, XP_024302790.1:p.Thr581Ile, XP_024302784.1:p.Thr581Ile, XP_024302788.1:p.Thr581Ile, XP_047277055.1:p.Thr581Ile, XP_047277062.1:p.Thr581Ile, XP_047277064.1:p.Thr581Ile, XP_047277063.1:p.Thr581Ile, XP_047277068.1:p.Thr581Ile, XP_047277067.1:p.Thr581Ile, XP_047277065.1:p.Thr581Ile, XP_047277058.1:p.Thr581Ile, XP_047277066.1:p.Thr581Ile, XP_047277079.1:p.Thr581Ile, XP_047277080.1:p.Thr581Ile, XP_047277069.1:p.Thr540Ile, XP_047277085.1:p.Thr581Ile, XP_047277070.1:p.Thr540Ile, XP_047277071.1:p.Thr540Ile, XP_047277057.1:p.Thr581Ile, XP_047277056.1:p.Thr581Ile, XP_047277060.1:p.Thr581Ile, XP_047277061.1:p.Thr581Ile, XP_047277081.1:p.Thr581Ile, XP_047277083.1:p.Thr581Ile, XP_047277076.1:p.Thr540Ile, XP_047277077.1:p.Thr540Ile, XP_047277072.1:p.Thr540Ile, XP_047277086.1:p.Thr581Ile, XP_047277059.1:p.Thr581Ile, XP_047277087.1:p.Thr581Ile, XP_011515039.1:p.Thr581Ile, XP_047277075.1:p.Thr540Ile, XP_047277082.1:p.Thr581Ile, XP_047277074.1:p.Thr540Ile, XP_016868357.1:p.Thr581Ile, XP_047277073.1:p.Thr540Ile, XP_047277089.1:p.Thr540Ile, XP_047277084.1:p.Thr581Ile, XP_047277090.1:p.Thr540Ile, XP_047277078.1:p.Thr581Ile, XP_047277088.1:p.Thr522Ile, XP_047277091.1:p.Thr522Ile

                      11.

                      rs1473307478 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        7:87188250 (GRCh38)
                        7:86817566 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:87188249:T:C
                        Gene:
                        DMTF1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000007.14:g.87188250T>C, NC_000007.13:g.86817566T>C, NG_029536.1:g.40890T>C, NM_021145.4:c.1360T>C, NM_021145.3:c.1360T>C, NR_024549.2:n.1805T>C, NR_024549.1:n.1897T>C, NR_024550.2:n.1766T>C, NR_024550.1:n.1858T>C, NM_001142327.2:c.1360T>C, NM_001142327.1:c.1360T>C, NM_001142326.2:c.1096T>C, NM_001142326.1:c.1096T>C, XM_011516739.4:c.1237T>C, XM_011516739.3:c.1237T>C, XM_011516739.2:c.1237T>C, XM_011516739.1:c.1237T>C, XM_017012870.3:c.1237T>C, XM_017012870.2:c.1237T>C, XM_017012870.1:c.1237T>C, XM_024447017.2:c.1360T>C, XM_024447017.1:c.1360T>C, XM_024447019.2:c.1360T>C, XM_024447019.1:c.1360T>C, XM_024447021.2:c.1360T>C, XM_024447021.1:c.1360T>C, XM_024447018.2:c.1360T>C, XM_024447018.1:c.1360T>C, XM_024447022.2:c.1360T>C, XM_024447022.1:c.1360T>C, XM_024447016.2:c.1360T>C, XM_024447016.1:c.1360T>C, XM_024447020.2:c.1360T>C, XM_024447020.1:c.1360T>C, XM_047421099.1:c.1360T>C, XM_047421106.1:c.1360T>C, XM_047421108.1:c.1360T>C, XM_047421107.1:c.1360T>C, XM_047421112.1:c.1360T>C, XM_047421111.1:c.1360T>C, XM_047421109.1:c.1360T>C, XM_047421102.1:c.1360T>C, XM_047421110.1:c.1360T>C, XM_047421123.1:c.1360T>C, XM_047421124.1:c.1360T>C, XM_047421113.1:c.1237T>C, XM_047421129.1:c.1360T>C, XM_047421114.1:c.1237T>C, XM_047421115.1:c.1237T>C, XM_047421101.1:c.1360T>C, XM_047421100.1:c.1360T>C, XM_047421104.1:c.1360T>C, XM_047421105.1:c.1360T>C, XM_047421125.1:c.1360T>C, XM_047421127.1:c.1360T>C, XM_047421120.1:c.1237T>C, XM_047421121.1:c.1237T>C, XM_047421116.1:c.1237T>C, XM_047421130.1:c.1360T>C, XM_047421103.1:c.1360T>C, XM_047421131.1:c.1360T>C, XM_011516737.1:c.1360T>C, XM_047421119.1:c.1237T>C, XM_047421126.1:c.1360T>C, XM_047421118.1:c.1237T>C, XM_017012868.1:c.1360T>C, XM_047421117.1:c.1237T>C, XM_047421133.1:c.1237T>C, XM_047421128.1:c.1360T>C, XM_047421134.1:c.1237T>C, XM_047421122.1:c.1360T>C, XM_047421132.1:c.1183T>C, XM_047421135.1:c.1183T>C, NP_066968.3:p.Ser454Pro, NP_001135799.1:p.Ser454Pro, NP_001135798.1:p.Ser366Pro, XP_011515041.1:p.Ser413Pro, XP_016868359.1:p.Ser413Pro, XP_024302785.1:p.Ser454Pro, XP_024302787.1:p.Ser454Pro, XP_024302789.1:p.Ser454Pro, XP_024302786.1:p.Ser454Pro, XP_024302790.1:p.Ser454Pro, XP_024302784.1:p.Ser454Pro, XP_024302788.1:p.Ser454Pro, XP_047277055.1:p.Ser454Pro, XP_047277062.1:p.Ser454Pro, XP_047277064.1:p.Ser454Pro, XP_047277063.1:p.Ser454Pro, XP_047277068.1:p.Ser454Pro, XP_047277067.1:p.Ser454Pro, XP_047277065.1:p.Ser454Pro, XP_047277058.1:p.Ser454Pro, XP_047277066.1:p.Ser454Pro, XP_047277079.1:p.Ser454Pro, XP_047277080.1:p.Ser454Pro, XP_047277069.1:p.Ser413Pro, XP_047277085.1:p.Ser454Pro, XP_047277070.1:p.Ser413Pro, XP_047277071.1:p.Ser413Pro, XP_047277057.1:p.Ser454Pro, XP_047277056.1:p.Ser454Pro, XP_047277060.1:p.Ser454Pro, XP_047277061.1:p.Ser454Pro, XP_047277081.1:p.Ser454Pro, XP_047277083.1:p.Ser454Pro, XP_047277076.1:p.Ser413Pro, XP_047277077.1:p.Ser413Pro, XP_047277072.1:p.Ser413Pro, XP_047277086.1:p.Ser454Pro, XP_047277059.1:p.Ser454Pro, XP_047277087.1:p.Ser454Pro, XP_011515039.1:p.Ser454Pro, XP_047277075.1:p.Ser413Pro, XP_047277082.1:p.Ser454Pro, XP_047277074.1:p.Ser413Pro, XP_016868357.1:p.Ser454Pro, XP_047277073.1:p.Ser413Pro, XP_047277089.1:p.Ser413Pro, XP_047277084.1:p.Ser454Pro, XP_047277090.1:p.Ser413Pro, XP_047277078.1:p.Ser454Pro, XP_047277088.1:p.Ser395Pro, XP_047277091.1:p.Ser395Pro

                        12.

                        rs1472505446 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G [Show Flanks]
                          Chromosome:
                          7:87173550 (GRCh38)
                          7:86802866 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:87173549:C:A,NC_000007.14:87173549:C:G
                          Gene:
                          DMTF1 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000007.14:g.87173550C>A, NC_000007.14:g.87173550C>G, NC_000007.13:g.86802866C>A, NC_000007.13:g.86802866C>G, NG_029536.1:g.26190C>A, NG_029536.1:g.26190C>G, NM_021145.4:c.343C>A, NM_021145.4:c.343C>G, NM_021145.3:c.343C>A, NM_021145.3:c.343C>G, NR_024549.2:n.577C>A, NR_024549.2:n.577C>G, NR_024549.1:n.669C>A, NR_024549.1:n.669C>G, NR_024550.2:n.577C>A, NR_024550.2:n.577C>G, NR_024550.1:n.669C>A, NR_024550.1:n.669C>G, NM_001142327.2:c.343C>A, NM_001142327.2:c.343C>G, NM_001142327.1:c.343C>A, NM_001142327.1:c.343C>G, NM_001142326.2:c.79C>A, NM_001142326.2:c.79C>G, NM_001142326.1:c.79C>A, NM_001142326.1:c.79C>G, XM_011516739.4:c.220C>A, XM_011516739.4:c.220C>G, XM_011516739.3:c.220C>A, XM_011516739.3:c.220C>G, XM_011516739.2:c.220C>A, XM_011516739.2:c.220C>G, XM_011516739.1:c.220C>A, XM_011516739.1:c.220C>G, XM_017012870.3:c.220C>A, XM_017012870.3:c.220C>G, XM_017012870.2:c.220C>A, XM_017012870.2:c.220C>G, XM_017012870.1:c.220C>A, XM_017012870.1:c.220C>G, XM_024447017.2:c.343C>A, XM_024447017.2:c.343C>G, XM_024447017.1:c.343C>A, XM_024447017.1:c.343C>G, XM_024447019.2:c.343C>A, XM_024447019.2:c.343C>G, XM_024447019.1:c.343C>A, XM_024447019.1:c.343C>G, XM_024447021.2:c.343C>A, XM_024447021.2:c.343C>G, XM_024447021.1:c.343C>A, XM_024447021.1:c.343C>G, XM_024447018.2:c.343C>A, XM_024447018.2:c.343C>G, XM_024447018.1:c.343C>A, XM_024447018.1:c.343C>G, XM_024447022.2:c.343C>A, XM_024447022.2:c.343C>G, XM_024447022.1:c.343C>A, XM_024447022.1:c.343C>G, XM_024447016.2:c.343C>A, XM_024447016.2:c.343C>G, XM_024447016.1:c.343C>A, XM_024447016.1:c.343C>G, XM_024447020.2:c.343C>A, XM_024447020.2:c.343C>G, XM_024447020.1:c.343C>A, XM_024447020.1:c.343C>G, XM_047421099.1:c.343C>A, XM_047421099.1:c.343C>G, XM_047421106.1:c.343C>A, XM_047421106.1:c.343C>G, XM_047421108.1:c.343C>A, XM_047421108.1:c.343C>G, XM_047421107.1:c.343C>A, XM_047421107.1:c.343C>G, XM_047421112.1:c.343C>A, XM_047421112.1:c.343C>G, XM_047421111.1:c.343C>A, XM_047421111.1:c.343C>G, XM_047421109.1:c.343C>A, XM_047421109.1:c.343C>G, XM_047421102.1:c.343C>A, XM_047421102.1:c.343C>G, XM_047421110.1:c.343C>A, XM_047421110.1:c.343C>G, XM_047421123.1:c.343C>A, XM_047421123.1:c.343C>G, XM_047421124.1:c.343C>A, XM_047421124.1:c.343C>G, XM_047421113.1:c.220C>A, XM_047421113.1:c.220C>G, XM_047421129.1:c.343C>A, XM_047421129.1:c.343C>G, XM_047421114.1:c.220C>A, XM_047421114.1:c.220C>G, XM_047421115.1:c.220C>A, XM_047421115.1:c.220C>G, XM_047421101.1:c.343C>A, XM_047421101.1:c.343C>G, XM_047421100.1:c.343C>A, XM_047421100.1:c.343C>G, XM_047421104.1:c.343C>A, XM_047421104.1:c.343C>G, XM_047421105.1:c.343C>A, XM_047421105.1:c.343C>G, XM_047421125.1:c.343C>A, XM_047421125.1:c.343C>G, XM_047421127.1:c.343C>A, XM_047421127.1:c.343C>G, XM_047421120.1:c.220C>A, XM_047421120.1:c.220C>G, XM_047421121.1:c.220C>A, XM_047421121.1:c.220C>G, XM_047421116.1:c.220C>A, XM_047421116.1:c.220C>G, XM_047421130.1:c.343C>A, XM_047421130.1:c.343C>G, XM_047421103.1:c.343C>A, XM_047421103.1:c.343C>G, XM_047421131.1:c.343C>A, XM_047421131.1:c.343C>G, XM_011516737.1:c.343C>A, XM_011516737.1:c.343C>G, XM_047421119.1:c.220C>A, XM_047421119.1:c.220C>G, XM_047421126.1:c.343C>A, XM_047421126.1:c.343C>G, XM_047421118.1:c.220C>A, XM_047421118.1:c.220C>G, XM_017012868.1:c.343C>A, XM_017012868.1:c.343C>G, XM_047421117.1:c.220C>A, XM_047421117.1:c.220C>G, XM_047421133.1:c.220C>A, XM_047421133.1:c.220C>G, XM_047421128.1:c.343C>A, XM_047421128.1:c.343C>G, XM_047421134.1:c.220C>A, XM_047421134.1:c.220C>G, XM_047421122.1:c.343C>A, XM_047421122.1:c.343C>G, XM_047421132.1:c.166C>A, XM_047421132.1:c.166C>G, XM_047421135.1:c.166C>A, XM_047421135.1:c.166C>G, NP_066968.3:p.Gln115Lys, NP_066968.3:p.Gln115Glu, NP_001135799.1:p.Gln115Lys, NP_001135799.1:p.Gln115Glu, NP_001135798.1:p.Gln27Lys, NP_001135798.1:p.Gln27Glu, XP_011515041.1:p.Gln74Lys, XP_011515041.1:p.Gln74Glu, XP_016868359.1:p.Gln74Lys, XP_016868359.1:p.Gln74Glu, XP_024302785.1:p.Gln115Lys, XP_024302785.1:p.Gln115Glu, XP_024302787.1:p.Gln115Lys, XP_024302787.1:p.Gln115Glu, XP_024302789.1:p.Gln115Lys, XP_024302789.1:p.Gln115Glu, XP_024302786.1:p.Gln115Lys, XP_024302786.1:p.Gln115Glu, XP_024302790.1:p.Gln115Lys, XP_024302790.1:p.Gln115Glu, XP_024302784.1:p.Gln115Lys, XP_024302784.1:p.Gln115Glu, XP_024302788.1:p.Gln115Lys, XP_024302788.1:p.Gln115Glu, XP_047277055.1:p.Gln115Lys, XP_047277055.1:p.Gln115Glu, XP_047277062.1:p.Gln115Lys, XP_047277062.1:p.Gln115Glu, XP_047277064.1:p.Gln115Lys, XP_047277064.1:p.Gln115Glu, XP_047277063.1:p.Gln115Lys, XP_047277063.1:p.Gln115Glu, XP_047277068.1:p.Gln115Lys, XP_047277068.1:p.Gln115Glu, XP_047277067.1:p.Gln115Lys, XP_047277067.1:p.Gln115Glu, XP_047277065.1:p.Gln115Lys, XP_047277065.1:p.Gln115Glu, XP_047277058.1:p.Gln115Lys, XP_047277058.1:p.Gln115Glu, XP_047277066.1:p.Gln115Lys, XP_047277066.1:p.Gln115Glu, XP_047277079.1:p.Gln115Lys, XP_047277079.1:p.Gln115Glu, XP_047277080.1:p.Gln115Lys, XP_047277080.1:p.Gln115Glu, XP_047277069.1:p.Gln74Lys, XP_047277069.1:p.Gln74Glu, XP_047277085.1:p.Gln115Lys, XP_047277085.1:p.Gln115Glu, XP_047277070.1:p.Gln74Lys, XP_047277070.1:p.Gln74Glu, XP_047277071.1:p.Gln74Lys, XP_047277071.1:p.Gln74Glu, XP_047277057.1:p.Gln115Lys, XP_047277057.1:p.Gln115Glu, XP_047277056.1:p.Gln115Lys, XP_047277056.1:p.Gln115Glu, XP_047277060.1:p.Gln115Lys, XP_047277060.1:p.Gln115Glu, XP_047277061.1:p.Gln115Lys, XP_047277061.1:p.Gln115Glu, XP_047277081.1:p.Gln115Lys, XP_047277081.1:p.Gln115Glu, XP_047277083.1:p.Gln115Lys, XP_047277083.1:p.Gln115Glu, XP_047277076.1:p.Gln74Lys, XP_047277076.1:p.Gln74Glu, XP_047277077.1:p.Gln74Lys, XP_047277077.1:p.Gln74Glu, XP_047277072.1:p.Gln74Lys, XP_047277072.1:p.Gln74Glu, XP_047277086.1:p.Gln115Lys, XP_047277086.1:p.Gln115Glu, XP_047277059.1:p.Gln115Lys, XP_047277059.1:p.Gln115Glu, XP_047277087.1:p.Gln115Lys, XP_047277087.1:p.Gln115Glu, XP_011515039.1:p.Gln115Lys, XP_011515039.1:p.Gln115Glu, XP_047277075.1:p.Gln74Lys, XP_047277075.1:p.Gln74Glu, XP_047277082.1:p.Gln115Lys, XP_047277082.1:p.Gln115Glu, XP_047277074.1:p.Gln74Lys, XP_047277074.1:p.Gln74Glu, XP_016868357.1:p.Gln115Lys, XP_016868357.1:p.Gln115Glu, XP_047277073.1:p.Gln74Lys, XP_047277073.1:p.Gln74Glu, XP_047277089.1:p.Gln74Lys, XP_047277089.1:p.Gln74Glu, XP_047277084.1:p.Gln115Lys, XP_047277084.1:p.Gln115Glu, XP_047277090.1:p.Gln74Lys, XP_047277090.1:p.Gln74Glu, XP_047277078.1:p.Gln115Lys, XP_047277078.1:p.Gln115Glu, XP_047277088.1:p.Gln56Lys, XP_047277088.1:p.Gln56Glu, XP_047277091.1:p.Gln56Lys, XP_047277091.1:p.Gln56Glu

                          13.

                          rs1470053730 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            7:87188283 (GRCh38)
                            7:86817599 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:87188282:G:A
                            Gene:
                            DMTF1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000007.14:g.87188283G>A, NC_000007.13:g.86817599G>A, NG_029536.1:g.40923G>A, NM_021145.4:c.1393G>A, NM_021145.3:c.1393G>A, NR_024549.2:n.1838G>A, NR_024549.1:n.1930G>A, NR_024550.2:n.1799G>A, NR_024550.1:n.1891G>A, NM_001142327.2:c.1393G>A, NM_001142327.1:c.1393G>A, NM_001142326.2:c.1129G>A, NM_001142326.1:c.1129G>A, XM_011516739.4:c.1270G>A, XM_011516739.3:c.1270G>A, XM_011516739.2:c.1270G>A, XM_011516739.1:c.1270G>A, XM_017012870.3:c.1270G>A, XM_017012870.2:c.1270G>A, XM_017012870.1:c.1270G>A, XM_024447017.2:c.1393G>A, XM_024447017.1:c.1393G>A, XM_024447019.2:c.1393G>A, XM_024447019.1:c.1393G>A, XM_024447021.2:c.1393G>A, XM_024447021.1:c.1393G>A, XM_024447018.2:c.1393G>A, XM_024447018.1:c.1393G>A, XM_024447022.2:c.1393G>A, XM_024447022.1:c.1393G>A, XM_024447016.2:c.1393G>A, XM_024447016.1:c.1393G>A, XM_024447020.2:c.1393G>A, XM_024447020.1:c.1393G>A, XM_047421099.1:c.1393G>A, XM_047421106.1:c.1393G>A, XM_047421108.1:c.1393G>A, XM_047421107.1:c.1393G>A, XM_047421112.1:c.1393G>A, XM_047421111.1:c.1393G>A, XM_047421109.1:c.1393G>A, XM_047421102.1:c.1393G>A, XM_047421110.1:c.1393G>A, XM_047421123.1:c.1393G>A, XM_047421124.1:c.1393G>A, XM_047421113.1:c.1270G>A, XM_047421129.1:c.1393G>A, XM_047421114.1:c.1270G>A, XM_047421115.1:c.1270G>A, XM_047421101.1:c.1393G>A, XM_047421100.1:c.1393G>A, XM_047421104.1:c.1393G>A, XM_047421105.1:c.1393G>A, XM_047421125.1:c.1393G>A, XM_047421127.1:c.1393G>A, XM_047421120.1:c.1270G>A, XM_047421121.1:c.1270G>A, XM_047421116.1:c.1270G>A, XM_047421130.1:c.1393G>A, XM_047421103.1:c.1393G>A, XM_047421131.1:c.1393G>A, XM_011516737.1:c.1393G>A, XM_047421119.1:c.1270G>A, XM_047421126.1:c.1393G>A, XM_047421118.1:c.1270G>A, XM_017012868.1:c.1393G>A, XM_047421117.1:c.1270G>A, XM_047421133.1:c.1270G>A, XM_047421128.1:c.1393G>A, XM_047421134.1:c.1270G>A, XM_047421122.1:c.1393G>A, XM_047421132.1:c.1216G>A, XM_047421135.1:c.1216G>A, NP_066968.3:p.Val465Ile, NP_001135799.1:p.Val465Ile, NP_001135798.1:p.Val377Ile, XP_011515041.1:p.Val424Ile, XP_016868359.1:p.Val424Ile, XP_024302785.1:p.Val465Ile, XP_024302787.1:p.Val465Ile, XP_024302789.1:p.Val465Ile, XP_024302786.1:p.Val465Ile, XP_024302790.1:p.Val465Ile, XP_024302784.1:p.Val465Ile, XP_024302788.1:p.Val465Ile, XP_047277055.1:p.Val465Ile, XP_047277062.1:p.Val465Ile, XP_047277064.1:p.Val465Ile, XP_047277063.1:p.Val465Ile, XP_047277068.1:p.Val465Ile, XP_047277067.1:p.Val465Ile, XP_047277065.1:p.Val465Ile, XP_047277058.1:p.Val465Ile, XP_047277066.1:p.Val465Ile, XP_047277079.1:p.Val465Ile, XP_047277080.1:p.Val465Ile, XP_047277069.1:p.Val424Ile, XP_047277085.1:p.Val465Ile, XP_047277070.1:p.Val424Ile, XP_047277071.1:p.Val424Ile, XP_047277057.1:p.Val465Ile, XP_047277056.1:p.Val465Ile, XP_047277060.1:p.Val465Ile, XP_047277061.1:p.Val465Ile, XP_047277081.1:p.Val465Ile, XP_047277083.1:p.Val465Ile, XP_047277076.1:p.Val424Ile, XP_047277077.1:p.Val424Ile, XP_047277072.1:p.Val424Ile, XP_047277086.1:p.Val465Ile, XP_047277059.1:p.Val465Ile, XP_047277087.1:p.Val465Ile, XP_011515039.1:p.Val465Ile, XP_047277075.1:p.Val424Ile, XP_047277082.1:p.Val465Ile, XP_047277074.1:p.Val424Ile, XP_016868357.1:p.Val465Ile, XP_047277073.1:p.Val424Ile, XP_047277089.1:p.Val424Ile, XP_047277084.1:p.Val465Ile, XP_047277090.1:p.Val424Ile, XP_047277078.1:p.Val465Ile, XP_047277088.1:p.Val406Ile, XP_047277091.1:p.Val406Ile

                            14.

                            rs1469713794 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              7:87184623 (GRCh38)
                              7:86813939 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:87184622:C:G
                              Gene:
                              DMTF1 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000007.14:g.87184623C>G, NC_000007.13:g.86813939C>G, NG_029536.1:g.37263C>G, NM_021145.4:c.1047C>G, NM_021145.3:c.1047C>G, NR_024549.2:n.1492C>G, NR_024549.1:n.1584C>G, NR_024550.2:n.1453C>G, NR_024550.1:n.1545C>G, NM_001142327.2:c.1047C>G, NM_001142327.1:c.1047C>G, NM_001142326.2:c.783C>G, NM_001142326.1:c.783C>G, XM_011516739.4:c.924C>G, XM_011516739.3:c.924C>G, XM_011516739.2:c.924C>G, XM_011516739.1:c.924C>G, XM_017012870.3:c.924C>G, XM_017012870.2:c.924C>G, XM_017012870.1:c.924C>G, XM_024447017.2:c.1047C>G, XM_024447017.1:c.1047C>G, XM_024447019.2:c.1047C>G, XM_024447019.1:c.1047C>G, XM_024447021.2:c.1047C>G, XM_024447021.1:c.1047C>G, XM_024447018.2:c.1047C>G, XM_024447018.1:c.1047C>G, XM_024447022.2:c.1047C>G, XM_024447022.1:c.1047C>G, XM_024447016.2:c.1047C>G, XM_024447016.1:c.1047C>G, XM_024447020.2:c.1047C>G, XM_024447020.1:c.1047C>G, XM_047421099.1:c.1047C>G, XM_047421106.1:c.1047C>G, XM_047421108.1:c.1047C>G, XM_047421107.1:c.1047C>G, XM_047421112.1:c.1047C>G, XM_047421111.1:c.1047C>G, XM_047421109.1:c.1047C>G, XM_047421102.1:c.1047C>G, XM_047421110.1:c.1047C>G, XM_047421123.1:c.1047C>G, XM_047421124.1:c.1047C>G, XM_047421113.1:c.924C>G, XM_047421129.1:c.1047C>G, XM_047421114.1:c.924C>G, XM_047421115.1:c.924C>G, XM_047421101.1:c.1047C>G, XM_047421100.1:c.1047C>G, XM_047421104.1:c.1047C>G, XM_047421105.1:c.1047C>G, XM_047421125.1:c.1047C>G, XM_047421127.1:c.1047C>G, XM_047421120.1:c.924C>G, XM_047421121.1:c.924C>G, XM_047421116.1:c.924C>G, XM_047421130.1:c.1047C>G, XM_047421103.1:c.1047C>G, XM_047421131.1:c.1047C>G, XM_011516737.1:c.1047C>G, XM_047421119.1:c.924C>G, XM_047421126.1:c.1047C>G, XM_047421118.1:c.924C>G, XM_017012868.1:c.1047C>G, XM_047421117.1:c.924C>G, XM_047421133.1:c.924C>G, XM_047421128.1:c.1047C>G, XM_047421134.1:c.924C>G, XM_047421122.1:c.1047C>G, XM_047421132.1:c.870C>G, XM_047421135.1:c.870C>G

                              15.

                              rs1468799590 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                7:87164954 (GRCh38)
                                7:86794270 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:87164953:G:A,NC_000007.14:87164953:G:T
                                Gene:
                                DMTF1 (Varview)
                                Functional Consequence:
                                stop_gained,coding_sequence_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                A=0.000342/1 (KOREAN)
                                HGVS:
                                NC_000007.14:g.87164954G>A, NC_000007.14:g.87164954G>T, NC_000007.13:g.86794270G>A, NC_000007.13:g.86794270G>T, NG_029536.1:g.17594G>A, NG_029536.1:g.17594G>T, NM_021145.4:c.13G>A, NM_021145.4:c.13G>T, NM_021145.3:c.13G>A, NM_021145.3:c.13G>T, NR_024549.2:n.247G>A, NR_024549.2:n.247G>T, NR_024549.1:n.339G>A, NR_024549.1:n.339G>T, NR_024550.2:n.247G>A, NR_024550.2:n.247G>T, NR_024550.1:n.339G>A, NR_024550.1:n.339G>T, NM_001142327.2:c.13G>A, NM_001142327.2:c.13G>T, NM_001142327.1:c.13G>A, NM_001142327.1:c.13G>T, XM_011516739.4:c.13G>A, XM_011516739.4:c.13G>T, XM_011516739.3:c.13G>A, XM_011516739.3:c.13G>T, XM_011516739.2:c.13G>A, XM_011516739.2:c.13G>T, XM_011516739.1:c.13G>A, XM_011516739.1:c.13G>T, XM_017012870.3:c.13G>A, XM_017012870.3:c.13G>T, XM_017012870.2:c.13G>A, XM_017012870.2:c.13G>T, XM_017012870.1:c.13G>A, XM_017012870.1:c.13G>T, XM_024447017.2:c.13G>A, XM_024447017.2:c.13G>T, XM_024447017.1:c.13G>A, XM_024447017.1:c.13G>T, XM_024447019.2:c.13G>A, XM_024447019.2:c.13G>T, XM_024447019.1:c.13G>A, XM_024447019.1:c.13G>T, XM_024447021.2:c.13G>A, XM_024447021.2:c.13G>T, XM_024447021.1:c.13G>A, XM_024447021.1:c.13G>T, XM_024447018.2:c.13G>A, XM_024447018.2:c.13G>T, XM_024447018.1:c.13G>A, XM_024447018.1:c.13G>T, XM_024447022.2:c.13G>A, XM_024447022.2:c.13G>T, XM_024447022.1:c.13G>A, XM_024447022.1:c.13G>T, XM_024447016.2:c.13G>A, XM_024447016.2:c.13G>T, XM_024447016.1:c.13G>A, XM_024447016.1:c.13G>T, XM_024447020.2:c.13G>A, XM_024447020.2:c.13G>T, XM_024447020.1:c.13G>A, XM_024447020.1:c.13G>T, XM_047421099.1:c.13G>A, XM_047421099.1:c.13G>T, XM_047421106.1:c.13G>A, XM_047421106.1:c.13G>T, XM_047421108.1:c.13G>A, XM_047421108.1:c.13G>T, XM_047421107.1:c.13G>A, XM_047421107.1:c.13G>T, XM_047421112.1:c.13G>A, XM_047421112.1:c.13G>T, XM_047421111.1:c.13G>A, XM_047421111.1:c.13G>T, XM_047421109.1:c.13G>A, XM_047421109.1:c.13G>T, XM_047421102.1:c.13G>A, XM_047421102.1:c.13G>T, XM_047421110.1:c.13G>A, XM_047421110.1:c.13G>T, XM_047421123.1:c.13G>A, XM_047421123.1:c.13G>T, XM_047421124.1:c.13G>A, XM_047421124.1:c.13G>T, XM_047421113.1:c.13G>A, XM_047421113.1:c.13G>T, XM_047421129.1:c.13G>A, XM_047421129.1:c.13G>T, XM_047421114.1:c.13G>A, XM_047421114.1:c.13G>T, XM_047421115.1:c.13G>A, XM_047421115.1:c.13G>T, XM_047421101.1:c.13G>A, XM_047421101.1:c.13G>T, XM_047421100.1:c.13G>A, XM_047421100.1:c.13G>T, XM_047421104.1:c.13G>A, XM_047421104.1:c.13G>T, XM_047421105.1:c.13G>A, XM_047421105.1:c.13G>T, XM_047421125.1:c.13G>A, XM_047421125.1:c.13G>T, XM_047421127.1:c.13G>A, XM_047421127.1:c.13G>T, XM_047421120.1:c.13G>A, XM_047421120.1:c.13G>T, XM_047421121.1:c.13G>A, XM_047421121.1:c.13G>T, XM_047421116.1:c.13G>A, XM_047421116.1:c.13G>T, XM_047421130.1:c.13G>A, XM_047421130.1:c.13G>T, XM_047421103.1:c.13G>A, XM_047421103.1:c.13G>T, XM_047421131.1:c.13G>A, XM_047421131.1:c.13G>T, XM_011516737.1:c.13G>A, XM_011516737.1:c.13G>T, XM_047421119.1:c.13G>A, XM_047421119.1:c.13G>T, XM_047421126.1:c.13G>A, XM_047421126.1:c.13G>T, XM_047421118.1:c.13G>A, XM_047421118.1:c.13G>T, XM_017012868.1:c.13G>A, XM_017012868.1:c.13G>T, XM_047421117.1:c.13G>A, XM_047421117.1:c.13G>T, XM_047421133.1:c.13G>A, XM_047421133.1:c.13G>T, XM_047421128.1:c.13G>A, XM_047421128.1:c.13G>T, XM_047421134.1:c.13G>A, XM_047421134.1:c.13G>T, XM_047421122.1:c.13G>A, XM_047421122.1:c.13G>T, NP_066968.3:p.Glu5Lys, NP_066968.3:p.Glu5Ter, NP_001135799.1:p.Glu5Lys, NP_001135799.1:p.Glu5Ter, XP_011515041.1:p.Glu5Lys, XP_011515041.1:p.Glu5Ter, XP_016868359.1:p.Glu5Lys, XP_016868359.1:p.Glu5Ter, XP_024302785.1:p.Glu5Lys, XP_024302785.1:p.Glu5Ter, XP_024302787.1:p.Glu5Lys, XP_024302787.1:p.Glu5Ter, XP_024302789.1:p.Glu5Lys, XP_024302789.1:p.Glu5Ter, XP_024302786.1:p.Glu5Lys, XP_024302786.1:p.Glu5Ter, XP_024302790.1:p.Glu5Lys, XP_024302790.1:p.Glu5Ter, XP_024302784.1:p.Glu5Lys, XP_024302784.1:p.Glu5Ter, XP_024302788.1:p.Glu5Lys, XP_024302788.1:p.Glu5Ter, XP_047277055.1:p.Glu5Lys, XP_047277055.1:p.Glu5Ter, XP_047277062.1:p.Glu5Lys, XP_047277062.1:p.Glu5Ter, XP_047277064.1:p.Glu5Lys, XP_047277064.1:p.Glu5Ter, XP_047277063.1:p.Glu5Lys, XP_047277063.1:p.Glu5Ter, XP_047277068.1:p.Glu5Lys, XP_047277068.1:p.Glu5Ter, XP_047277067.1:p.Glu5Lys, XP_047277067.1:p.Glu5Ter, XP_047277065.1:p.Glu5Lys, XP_047277065.1:p.Glu5Ter, XP_047277058.1:p.Glu5Lys, XP_047277058.1:p.Glu5Ter, XP_047277066.1:p.Glu5Lys, XP_047277066.1:p.Glu5Ter, XP_047277079.1:p.Glu5Lys, XP_047277079.1:p.Glu5Ter, XP_047277080.1:p.Glu5Lys, XP_047277080.1:p.Glu5Ter, XP_047277069.1:p.Glu5Lys, XP_047277069.1:p.Glu5Ter, XP_047277085.1:p.Glu5Lys, XP_047277085.1:p.Glu5Ter, XP_047277070.1:p.Glu5Lys, XP_047277070.1:p.Glu5Ter, XP_047277071.1:p.Glu5Lys, XP_047277071.1:p.Glu5Ter, XP_047277057.1:p.Glu5Lys, XP_047277057.1:p.Glu5Ter, XP_047277056.1:p.Glu5Lys, XP_047277056.1:p.Glu5Ter, XP_047277060.1:p.Glu5Lys, XP_047277060.1:p.Glu5Ter, XP_047277061.1:p.Glu5Lys, XP_047277061.1:p.Glu5Ter, XP_047277081.1:p.Glu5Lys, XP_047277081.1:p.Glu5Ter, XP_047277083.1:p.Glu5Lys, XP_047277083.1:p.Glu5Ter, XP_047277076.1:p.Glu5Lys, XP_047277076.1:p.Glu5Ter, XP_047277077.1:p.Glu5Lys, XP_047277077.1:p.Glu5Ter, XP_047277072.1:p.Glu5Lys, XP_047277072.1:p.Glu5Ter, XP_047277086.1:p.Glu5Lys, XP_047277086.1:p.Glu5Ter, XP_047277059.1:p.Glu5Lys, XP_047277059.1:p.Glu5Ter, XP_047277087.1:p.Glu5Lys, XP_047277087.1:p.Glu5Ter, XP_011515039.1:p.Glu5Lys, XP_011515039.1:p.Glu5Ter, XP_047277075.1:p.Glu5Lys, XP_047277075.1:p.Glu5Ter, XP_047277082.1:p.Glu5Lys, XP_047277082.1:p.Glu5Ter, XP_047277074.1:p.Glu5Lys, XP_047277074.1:p.Glu5Ter, XP_016868357.1:p.Glu5Lys, XP_016868357.1:p.Glu5Ter, XP_047277073.1:p.Glu5Lys, XP_047277073.1:p.Glu5Ter, XP_047277089.1:p.Glu5Lys, XP_047277089.1:p.Glu5Ter, XP_047277084.1:p.Glu5Lys, XP_047277084.1:p.Glu5Ter, XP_047277090.1:p.Glu5Lys, XP_047277090.1:p.Glu5Ter, XP_047277078.1:p.Glu5Lys, XP_047277078.1:p.Glu5Ter

                                16.

                                rs1468391848 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  7:87164950 (GRCh38)
                                  7:86794266 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:87164949:A:G
                                  Gene:
                                  DMTF1 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  NC_000007.14:g.87164950A>G, NC_000007.13:g.86794266A>G, NG_029536.1:g.17590A>G, NM_021145.4:c.9A>G, NM_021145.3:c.9A>G, NR_024549.2:n.243A>G, NR_024549.1:n.335A>G, NR_024550.2:n.243A>G, NR_024550.1:n.335A>G, NM_001142327.2:c.9A>G, NM_001142327.1:c.9A>G, XM_011516739.4:c.9A>G, XM_011516739.3:c.9A>G, XM_011516739.2:c.9A>G, XM_011516739.1:c.9A>G, XM_017012870.3:c.9A>G, XM_017012870.2:c.9A>G, XM_017012870.1:c.9A>G, XM_024447017.2:c.9A>G, XM_024447017.1:c.9A>G, XM_024447019.2:c.9A>G, XM_024447019.1:c.9A>G, XM_024447021.2:c.9A>G, XM_024447021.1:c.9A>G, XM_024447018.2:c.9A>G, XM_024447018.1:c.9A>G, XM_024447022.2:c.9A>G, XM_024447022.1:c.9A>G, XM_024447016.2:c.9A>G, XM_024447016.1:c.9A>G, XM_024447020.2:c.9A>G, XM_024447020.1:c.9A>G, XM_047421099.1:c.9A>G, XM_047421106.1:c.9A>G, XM_047421108.1:c.9A>G, XM_047421107.1:c.9A>G, XM_047421112.1:c.9A>G, XM_047421111.1:c.9A>G, XM_047421109.1:c.9A>G, XM_047421102.1:c.9A>G, XM_047421110.1:c.9A>G, XM_047421123.1:c.9A>G, XM_047421124.1:c.9A>G, XM_047421113.1:c.9A>G, XM_047421129.1:c.9A>G, XM_047421114.1:c.9A>G, XM_047421115.1:c.9A>G, XM_047421101.1:c.9A>G, XM_047421100.1:c.9A>G, XM_047421104.1:c.9A>G, XM_047421105.1:c.9A>G, XM_047421125.1:c.9A>G, XM_047421127.1:c.9A>G, XM_047421120.1:c.9A>G, XM_047421121.1:c.9A>G, XM_047421116.1:c.9A>G, XM_047421130.1:c.9A>G, XM_047421103.1:c.9A>G, XM_047421131.1:c.9A>G, XM_011516737.1:c.9A>G, XM_047421119.1:c.9A>G, XM_047421126.1:c.9A>G, XM_047421118.1:c.9A>G, XM_017012868.1:c.9A>G, XM_047421117.1:c.9A>G, XM_047421133.1:c.9A>G, XM_047421128.1:c.9A>G, XM_047421134.1:c.9A>G, XM_047421122.1:c.9A>G

                                  17.

                                  rs1467918794 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    7:87184409 (GRCh38)
                                    7:86813725 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:87184408:A:G
                                    Gene:
                                    DMTF1 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000011/3 (TOPMED)
                                    HGVS:
                                    NC_000007.14:g.87184409A>G, NC_000007.13:g.86813725A>G, NG_029536.1:g.37049A>G, NM_021145.4:c.833A>G, NM_021145.3:c.833A>G, NR_024549.2:n.1278A>G, NR_024549.1:n.1370A>G, NR_024550.2:n.1239A>G, NR_024550.1:n.1331A>G, NM_001142327.2:c.833A>G, NM_001142327.1:c.833A>G, NM_001142326.2:c.569A>G, NM_001142326.1:c.569A>G, XM_011516739.4:c.710A>G, XM_011516739.3:c.710A>G, XM_011516739.2:c.710A>G, XM_011516739.1:c.710A>G, XM_017012870.3:c.710A>G, XM_017012870.2:c.710A>G, XM_017012870.1:c.710A>G, XM_024447017.2:c.833A>G, XM_024447017.1:c.833A>G, XM_024447019.2:c.833A>G, XM_024447019.1:c.833A>G, XM_024447021.2:c.833A>G, XM_024447021.1:c.833A>G, XM_024447018.2:c.833A>G, XM_024447018.1:c.833A>G, XM_024447022.2:c.833A>G, XM_024447022.1:c.833A>G, XM_024447016.2:c.833A>G, XM_024447016.1:c.833A>G, XM_024447020.2:c.833A>G, XM_024447020.1:c.833A>G, XM_047421099.1:c.833A>G, XM_047421106.1:c.833A>G, XM_047421108.1:c.833A>G, XM_047421107.1:c.833A>G, XM_047421112.1:c.833A>G, XM_047421111.1:c.833A>G, XM_047421109.1:c.833A>G, XM_047421102.1:c.833A>G, XM_047421110.1:c.833A>G, XM_047421123.1:c.833A>G, XM_047421124.1:c.833A>G, XM_047421113.1:c.710A>G, XM_047421129.1:c.833A>G, XM_047421114.1:c.710A>G, XM_047421115.1:c.710A>G, XM_047421101.1:c.833A>G, XM_047421100.1:c.833A>G, XM_047421104.1:c.833A>G, XM_047421105.1:c.833A>G, XM_047421125.1:c.833A>G, XM_047421127.1:c.833A>G, XM_047421120.1:c.710A>G, XM_047421121.1:c.710A>G, XM_047421116.1:c.710A>G, XM_047421130.1:c.833A>G, XM_047421103.1:c.833A>G, XM_047421131.1:c.833A>G, XM_011516737.1:c.833A>G, XM_047421119.1:c.710A>G, XM_047421126.1:c.833A>G, XM_047421118.1:c.710A>G, XM_017012868.1:c.833A>G, XM_047421117.1:c.710A>G, XM_047421133.1:c.710A>G, XM_047421128.1:c.833A>G, XM_047421134.1:c.710A>G, XM_047421122.1:c.833A>G, XM_047421132.1:c.656A>G, XM_047421135.1:c.656A>G, NP_066968.3:p.Glu278Gly, NP_001135799.1:p.Glu278Gly, NP_001135798.1:p.Glu190Gly, XP_011515041.1:p.Glu237Gly, XP_016868359.1:p.Glu237Gly, XP_024302785.1:p.Glu278Gly, XP_024302787.1:p.Glu278Gly, XP_024302789.1:p.Glu278Gly, XP_024302786.1:p.Glu278Gly, XP_024302790.1:p.Glu278Gly, XP_024302784.1:p.Glu278Gly, XP_024302788.1:p.Glu278Gly, XP_047277055.1:p.Glu278Gly, XP_047277062.1:p.Glu278Gly, XP_047277064.1:p.Glu278Gly, XP_047277063.1:p.Glu278Gly, XP_047277068.1:p.Glu278Gly, XP_047277067.1:p.Glu278Gly, XP_047277065.1:p.Glu278Gly, XP_047277058.1:p.Glu278Gly, XP_047277066.1:p.Glu278Gly, XP_047277079.1:p.Glu278Gly, XP_047277080.1:p.Glu278Gly, XP_047277069.1:p.Glu237Gly, XP_047277085.1:p.Glu278Gly, XP_047277070.1:p.Glu237Gly, XP_047277071.1:p.Glu237Gly, XP_047277057.1:p.Glu278Gly, XP_047277056.1:p.Glu278Gly, XP_047277060.1:p.Glu278Gly, XP_047277061.1:p.Glu278Gly, XP_047277081.1:p.Glu278Gly, XP_047277083.1:p.Glu278Gly, XP_047277076.1:p.Glu237Gly, XP_047277077.1:p.Glu237Gly, XP_047277072.1:p.Glu237Gly, XP_047277086.1:p.Glu278Gly, XP_047277059.1:p.Glu278Gly, XP_047277087.1:p.Glu278Gly, XP_011515039.1:p.Glu278Gly, XP_047277075.1:p.Glu237Gly, XP_047277082.1:p.Glu278Gly, XP_047277074.1:p.Glu237Gly, XP_016868357.1:p.Glu278Gly, XP_047277073.1:p.Glu237Gly, XP_047277089.1:p.Glu237Gly, XP_047277084.1:p.Glu278Gly, XP_047277090.1:p.Glu237Gly, XP_047277078.1:p.Glu278Gly, XP_047277088.1:p.Glu219Gly, XP_047277091.1:p.Glu219Gly

                                    18.

                                    rs1466205251 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      7:87171088 (GRCh38)
                                      7:86800404 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:87171087:A:C
                                      Gene:
                                      DMTF1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000007.14:g.87171088A>C, NC_000007.13:g.86800404A>C, NG_029536.1:g.23728A>C, NM_021145.4:c.326A>C, NM_021145.3:c.326A>C, NR_024549.2:n.560A>C, NR_024549.1:n.652A>C, NR_024550.2:n.560A>C, NR_024550.1:n.652A>C, NM_001142327.2:c.326A>C, NM_001142327.1:c.326A>C, NM_001142326.2:c.62A>C, NM_001142326.1:c.62A>C, XM_011516739.4:c.203A>C, XM_011516739.3:c.203A>C, XM_011516739.2:c.203A>C, XM_011516739.1:c.203A>C, XM_017012870.3:c.203A>C, XM_017012870.2:c.203A>C, XM_017012870.1:c.203A>C, XM_024447017.2:c.326A>C, XM_024447017.1:c.326A>C, XM_024447019.2:c.326A>C, XM_024447019.1:c.326A>C, XM_024447021.2:c.326A>C, XM_024447021.1:c.326A>C, XM_024447018.2:c.326A>C, XM_024447018.1:c.326A>C, XM_024447022.2:c.326A>C, XM_024447022.1:c.326A>C, XM_024447016.2:c.326A>C, XM_024447016.1:c.326A>C, XM_024447020.2:c.326A>C, XM_024447020.1:c.326A>C, XM_047421099.1:c.326A>C, XM_047421106.1:c.326A>C, XM_047421108.1:c.326A>C, XM_047421107.1:c.326A>C, XM_047421112.1:c.326A>C, XM_047421111.1:c.326A>C, XM_047421109.1:c.326A>C, XM_047421102.1:c.326A>C, XM_047421110.1:c.326A>C, XM_047421123.1:c.326A>C, XM_047421124.1:c.326A>C, XM_047421113.1:c.203A>C, XM_047421129.1:c.326A>C, XM_047421114.1:c.203A>C, XM_047421115.1:c.203A>C, XM_047421101.1:c.326A>C, XM_047421100.1:c.326A>C, XM_047421104.1:c.326A>C, XM_047421105.1:c.326A>C, XM_047421125.1:c.326A>C, XM_047421127.1:c.326A>C, XM_047421120.1:c.203A>C, XM_047421121.1:c.203A>C, XM_047421116.1:c.203A>C, XM_047421130.1:c.326A>C, XM_047421103.1:c.326A>C, XM_047421131.1:c.326A>C, XM_011516737.1:c.326A>C, XM_047421119.1:c.203A>C, XM_047421126.1:c.326A>C, XM_047421118.1:c.203A>C, XM_017012868.1:c.326A>C, XM_047421117.1:c.203A>C, XM_047421133.1:c.203A>C, XM_047421128.1:c.326A>C, XM_047421134.1:c.203A>C, XM_047421122.1:c.326A>C, XM_047421132.1:c.149A>C, XM_047421135.1:c.149A>C, NP_066968.3:p.Gln109Pro, NP_001135799.1:p.Gln109Pro, NP_001135798.1:p.Gln21Pro, XP_011515041.1:p.Gln68Pro, XP_016868359.1:p.Gln68Pro, XP_024302785.1:p.Gln109Pro, XP_024302787.1:p.Gln109Pro, XP_024302789.1:p.Gln109Pro, XP_024302786.1:p.Gln109Pro, XP_024302790.1:p.Gln109Pro, XP_024302784.1:p.Gln109Pro, XP_024302788.1:p.Gln109Pro, XP_047277055.1:p.Gln109Pro, XP_047277062.1:p.Gln109Pro, XP_047277064.1:p.Gln109Pro, XP_047277063.1:p.Gln109Pro, XP_047277068.1:p.Gln109Pro, XP_047277067.1:p.Gln109Pro, XP_047277065.1:p.Gln109Pro, XP_047277058.1:p.Gln109Pro, XP_047277066.1:p.Gln109Pro, XP_047277079.1:p.Gln109Pro, XP_047277080.1:p.Gln109Pro, XP_047277069.1:p.Gln68Pro, XP_047277085.1:p.Gln109Pro, XP_047277070.1:p.Gln68Pro, XP_047277071.1:p.Gln68Pro, XP_047277057.1:p.Gln109Pro, XP_047277056.1:p.Gln109Pro, XP_047277060.1:p.Gln109Pro, XP_047277061.1:p.Gln109Pro, XP_047277081.1:p.Gln109Pro, XP_047277083.1:p.Gln109Pro, XP_047277076.1:p.Gln68Pro, XP_047277077.1:p.Gln68Pro, XP_047277072.1:p.Gln68Pro, XP_047277086.1:p.Gln109Pro, XP_047277059.1:p.Gln109Pro, XP_047277087.1:p.Gln109Pro, XP_011515039.1:p.Gln109Pro, XP_047277075.1:p.Gln68Pro, XP_047277082.1:p.Gln109Pro, XP_047277074.1:p.Gln68Pro, XP_016868357.1:p.Gln109Pro, XP_047277073.1:p.Gln68Pro, XP_047277089.1:p.Gln68Pro, XP_047277084.1:p.Gln109Pro, XP_047277090.1:p.Gln68Pro, XP_047277078.1:p.Gln109Pro, XP_047277088.1:p.Gln50Pro, XP_047277091.1:p.Gln50Pro

                                      19.

                                      rs1459890874 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        7:87185937 (GRCh38)
                                        7:86815253 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:87185936:C:T
                                        Gene:
                                        DMTF1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000007.14:g.87185937C>T, NC_000007.13:g.86815253C>T, NG_029536.1:g.38577C>T, NM_021145.4:c.1158C>T, NM_021145.3:c.1158C>T, NR_024549.2:n.1603C>T, NR_024549.1:n.1695C>T, NR_024550.2:n.1564C>T, NR_024550.1:n.1656C>T, NM_001142327.2:c.1158C>T, NM_001142327.1:c.1158C>T, NM_001142326.2:c.894C>T, NM_001142326.1:c.894C>T, XM_011516739.4:c.1035C>T, XM_011516739.3:c.1035C>T, XM_011516739.2:c.1035C>T, XM_011516739.1:c.1035C>T, XM_017012870.3:c.1035C>T, XM_017012870.2:c.1035C>T, XM_017012870.1:c.1035C>T, XM_024447017.2:c.1158C>T, XM_024447017.1:c.1158C>T, XM_024447019.2:c.1158C>T, XM_024447019.1:c.1158C>T, XM_024447021.2:c.1158C>T, XM_024447021.1:c.1158C>T, XM_024447018.2:c.1158C>T, XM_024447018.1:c.1158C>T, XM_024447022.2:c.1158C>T, XM_024447022.1:c.1158C>T, XM_024447016.2:c.1158C>T, XM_024447016.1:c.1158C>T, XM_024447020.2:c.1158C>T, XM_024447020.1:c.1158C>T, XM_047421099.1:c.1158C>T, XM_047421106.1:c.1158C>T, XM_047421108.1:c.1158C>T, XM_047421107.1:c.1158C>T, XM_047421112.1:c.1158C>T, XM_047421111.1:c.1158C>T, XM_047421109.1:c.1158C>T, XM_047421102.1:c.1158C>T, XM_047421110.1:c.1158C>T, XM_047421123.1:c.1158C>T, XM_047421124.1:c.1158C>T, XM_047421113.1:c.1035C>T, XM_047421129.1:c.1158C>T, XM_047421114.1:c.1035C>T, XM_047421115.1:c.1035C>T, XM_047421101.1:c.1158C>T, XM_047421100.1:c.1158C>T, XM_047421104.1:c.1158C>T, XM_047421105.1:c.1158C>T, XM_047421125.1:c.1158C>T, XM_047421127.1:c.1158C>T, XM_047421120.1:c.1035C>T, XM_047421121.1:c.1035C>T, XM_047421116.1:c.1035C>T, XM_047421130.1:c.1158C>T, XM_047421103.1:c.1158C>T, XM_047421131.1:c.1158C>T, XM_011516737.1:c.1158C>T, XM_047421119.1:c.1035C>T, XM_047421126.1:c.1158C>T, XM_047421118.1:c.1035C>T, XM_017012868.1:c.1158C>T, XM_047421117.1:c.1035C>T, XM_047421133.1:c.1035C>T, XM_047421128.1:c.1158C>T, XM_047421134.1:c.1035C>T, XM_047421122.1:c.1158C>T, XM_047421132.1:c.981C>T, XM_047421135.1:c.981C>T

                                        20.

                                        rs1459558910 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          7:87179627 (GRCh38)
                                          7:86808943 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:87179626:G:T
                                          Gene:
                                          DMTF1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:
                                          NC_000007.14:g.87179627G>T, NC_000007.13:g.86808943G>T, NG_029536.1:g.32267G>T, NM_021145.4:c.602G>T, NM_021145.3:c.602G>T, NR_024549.2:n.836G>T, NR_024549.1:n.928G>T, NR_024550.2:n.836G>T, NR_024550.1:n.928G>T, NM_001142327.2:c.602G>T, NM_001142327.1:c.602G>T, NM_001142326.2:c.338G>T, NM_001142326.1:c.338G>T, XM_011516739.4:c.479G>T, XM_011516739.3:c.479G>T, XM_011516739.2:c.479G>T, XM_011516739.1:c.479G>T, XM_017012870.3:c.479G>T, XM_017012870.2:c.479G>T, XM_017012870.1:c.479G>T, XM_024447017.2:c.602G>T, XM_024447017.1:c.602G>T, XM_024447019.2:c.602G>T, XM_024447019.1:c.602G>T, XM_024447021.2:c.602G>T, XM_024447021.1:c.602G>T, XM_024447018.2:c.602G>T, XM_024447018.1:c.602G>T, XM_024447022.2:c.602G>T, XM_024447022.1:c.602G>T, XM_024447016.2:c.602G>T, XM_024447016.1:c.602G>T, XM_024447020.2:c.602G>T, XM_024447020.1:c.602G>T, XM_047421099.1:c.602G>T, XM_047421106.1:c.602G>T, XM_047421108.1:c.602G>T, XM_047421107.1:c.602G>T, XM_047421112.1:c.602G>T, XM_047421111.1:c.602G>T, XM_047421109.1:c.602G>T, XM_047421102.1:c.602G>T, XM_047421110.1:c.602G>T, XM_047421123.1:c.602G>T, XM_047421124.1:c.602G>T, XM_047421113.1:c.479G>T, XM_047421129.1:c.602G>T, XM_047421114.1:c.479G>T, XM_047421115.1:c.479G>T, XM_047421101.1:c.602G>T, XM_047421100.1:c.602G>T, XM_047421104.1:c.602G>T, XM_047421105.1:c.602G>T, XM_047421125.1:c.602G>T, XM_047421127.1:c.602G>T, XM_047421120.1:c.479G>T, XM_047421121.1:c.479G>T, XM_047421116.1:c.479G>T, XM_047421130.1:c.602G>T, XM_047421103.1:c.602G>T, XM_047421131.1:c.602G>T, XM_011516737.1:c.602G>T, XM_047421119.1:c.479G>T, XM_047421126.1:c.602G>T, XM_047421118.1:c.479G>T, XM_017012868.1:c.602G>T, XM_047421117.1:c.479G>T, XM_047421133.1:c.479G>T, XM_047421128.1:c.602G>T, XM_047421134.1:c.479G>T, XM_047421122.1:c.602G>T, XM_047421132.1:c.425G>T, XM_047421135.1:c.425G>T, NP_066968.3:p.Trp201Leu, NP_001135799.1:p.Trp201Leu, NP_001135798.1:p.Trp113Leu, XP_011515041.1:p.Trp160Leu, XP_016868359.1:p.Trp160Leu, XP_024302785.1:p.Trp201Leu, XP_024302787.1:p.Trp201Leu, XP_024302789.1:p.Trp201Leu, XP_024302786.1:p.Trp201Leu, XP_024302790.1:p.Trp201Leu, XP_024302784.1:p.Trp201Leu, XP_024302788.1:p.Trp201Leu, XP_047277055.1:p.Trp201Leu, XP_047277062.1:p.Trp201Leu, XP_047277064.1:p.Trp201Leu, XP_047277063.1:p.Trp201Leu, XP_047277068.1:p.Trp201Leu, XP_047277067.1:p.Trp201Leu, XP_047277065.1:p.Trp201Leu, XP_047277058.1:p.Trp201Leu, XP_047277066.1:p.Trp201Leu, XP_047277079.1:p.Trp201Leu, XP_047277080.1:p.Trp201Leu, XP_047277069.1:p.Trp160Leu, XP_047277085.1:p.Trp201Leu, XP_047277070.1:p.Trp160Leu, XP_047277071.1:p.Trp160Leu, XP_047277057.1:p.Trp201Leu, XP_047277056.1:p.Trp201Leu, XP_047277060.1:p.Trp201Leu, XP_047277061.1:p.Trp201Leu, XP_047277081.1:p.Trp201Leu, XP_047277083.1:p.Trp201Leu, XP_047277076.1:p.Trp160Leu, XP_047277077.1:p.Trp160Leu, XP_047277072.1:p.Trp160Leu, XP_047277086.1:p.Trp201Leu, XP_047277059.1:p.Trp201Leu, XP_047277087.1:p.Trp201Leu, XP_011515039.1:p.Trp201Leu, XP_047277075.1:p.Trp160Leu, XP_047277082.1:p.Trp201Leu, XP_047277074.1:p.Trp160Leu, XP_016868357.1:p.Trp201Leu, XP_047277073.1:p.Trp160Leu, XP_047277089.1:p.Trp160Leu, XP_047277084.1:p.Trp201Leu, XP_047277090.1:p.Trp160Leu, XP_047277078.1:p.Trp201Leu, XP_047277088.1:p.Trp142Leu, XP_047277091.1:p.Trp142Leu

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