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Items: 1 to 20 of 2029

1.

rs1490218375 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    18:8806982 (GRCh38)
    18:8806980 (GRCh37)
    Canonical SPDI:
    NC_000018.10:8806981:A:G
    Gene:
    MTCL1 (Varview)
    Functional Consequence:
    synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by cluster
    MAF:
    G=0./0 (GnomAD)
    HGVS:
    NC_000018.10:g.8806982A>G, NC_000018.9:g.8806980A>G, XM_011525640.4:c.3684A>G, XM_011525640.3:c.2667A>G, XM_011525640.2:c.3684A>G, XM_011525640.1:c.3684A>G, NM_015210.4:c.2526A>G, NM_015210.3:c.2526A>G, XM_017025674.3:c.2604A>G, XM_017025674.2:c.2604A>G, XM_017025674.1:c.2604A>G, XM_017025671.3:c.2757A>G, XM_017025671.2:c.2757A>G, XM_017025671.1:c.2757A>G, XM_024451125.2:c.516A>G, XM_024451125.1:c.516A>G, XM_024451126.2:c.516A>G, XM_024451126.1:c.516A>G, XM_024451115.2:c.3684A>G, XM_024451115.1:c.2667A>G, XM_024451110.2:c.3684A>G, XM_024451110.1:c.2667A>G, XM_024451111.2:c.3681A>G, XM_024451111.1:c.2664A>G, XM_024451112.2:c.3606A>G, XM_024451112.1:c.2589A>G, XM_024451113.2:c.3684A>G, XM_024451113.1:c.2667A>G, XM_024451114.2:c.3561A>G, XM_024451114.1:c.2544A>G, XM_024451117.2:c.3684A>G, XM_024451117.1:c.2667A>G, XM_024451118.2:c.3561A>G, XM_024451118.1:c.2544A>G, XM_017025672.2:c.2604A>G, XM_017025672.1:c.2604A>G, XM_017025673.2:c.2604A>G, XM_017025673.1:c.2604A>G, XM_024451122.2:c.2604A>G, XM_024451122.1:c.2604A>G, XM_024451123.2:c.2403A>G, XM_024451123.1:c.2403A>G, XM_024451124.2:c.3684A>G, XM_024451124.1:c.2667A>G, XR_002958167.2:n.3789A>G, XR_002958167.1:n.2825A>G, NM_001378206.1:c.3606A>G, NM_001395333.1:c.3606A>G, XM_047437394.1:c.3483A>G, XM_047437395.1:c.3561A>G, XM_047437396.1:c.3558A>G, NM_001378205.1:c.3483A>G, NM_001378207.1:c.3483A>G, XM_047437397.1:c.3561A>G, XM_047437399.1:c.3483A>G, XM_047437401.1:c.2604A>G, XM_047437393.1:c.3684A>G, XM_047437398.1:c.3606A>G, NM_001395220.1:c.2403A>G, XM_047437400.1:c.3483A>G, XR_007066128.1:n.3666A>G

    2.

    rs1490203322 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      18:8825213 (GRCh38)
      18:8825211 (GRCh37)
      Canonical SPDI:
      NC_000018.10:8825212:C:T
      Gene:
      MTCL1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
      HGVS:
      NC_000018.10:g.8825213C>T, NC_000018.9:g.8825211C>T, XM_011525640.4:c.4891C>T, XM_011525640.3:c.3874C>T, XM_011525640.2:c.4891C>T, XM_011525640.1:c.4891C>T, NM_015210.4:c.3703C>T, NM_015210.3:c.3703C>T, XM_017025674.3:c.3895C>T, XM_017025674.2:c.3895C>T, XM_017025674.1:c.3895C>T, XM_017025671.3:c.4048C>T, XM_017025671.2:c.4048C>T, XM_017025671.1:c.4048C>T, XM_024451125.2:c.1807C>T, XM_024451125.1:c.1807C>T, XM_024451126.2:c.1807C>T, XM_024451126.1:c.1807C>T, XM_024451115.2:c.4975C>T, XM_024451115.1:c.3958C>T, XM_024451110.2:c.4975C>T, XM_024451110.1:c.3958C>T, XM_024451111.2:c.4972C>T, XM_024451111.1:c.3955C>T, XM_024451112.2:c.4897C>T, XM_024451112.1:c.3880C>T, XM_024451113.2:c.4861C>T, XM_024451113.1:c.3844C>T, XM_024451114.2:c.4852C>T, XM_024451114.1:c.3835C>T, XM_024451117.2:c.4777C>T, XM_024451117.1:c.3760C>T, XM_024451118.2:c.4738C>T, XM_024451118.1:c.3721C>T, XM_017025672.2:c.3895C>T, XM_017025672.1:c.3895C>T, XM_017025673.2:c.3895C>T, XM_017025673.1:c.3895C>T, XM_024451122.2:c.3895C>T, XM_024451122.1:c.3895C>T, XM_024451123.2:c.3694C>T, XM_024451123.1:c.3694C>T, NM_001378206.1:c.4783C>T, NM_001395333.1:c.4783C>T, XM_047437394.1:c.4774C>T, XM_047437395.1:c.4768C>T, XM_047437396.1:c.4735C>T, NM_001378205.1:c.4660C>T, NM_001378207.1:c.4660C>T, XM_047437397.1:c.4654C>T, XM_047437399.1:c.4576C>T, XM_047437401.1:c.3895C>T, XM_047437393.1:c.4975C>T, XM_047437398.1:c.4783C>T, NM_001395220.1:c.3580C>T, XM_047437400.1:c.4660C>T, XP_011523942.3:p.Leu1631Phe, NP_056025.2:p.Leu1235Phe, XP_016881163.1:p.Leu1299Phe, XP_016881160.1:p.Leu1350Phe, XP_024306893.1:p.Leu603Phe, XP_024306894.1:p.Leu603Phe, XP_024306883.2:p.Leu1659Phe, XP_024306878.2:p.Leu1659Phe, XP_024306879.2:p.Leu1658Phe, XP_024306880.2:p.Leu1633Phe, XP_024306881.2:p.Leu1621Phe, XP_024306882.2:p.Leu1618Phe, XP_024306885.2:p.Leu1593Phe, XP_024306886.2:p.Leu1580Phe, XP_016881161.1:p.Leu1299Phe, XP_016881162.1:p.Leu1299Phe, XP_024306890.1:p.Leu1299Phe, XP_024306891.1:p.Leu1232Phe, NP_001365135.1:p.Leu1595Phe, NP_001382262.1:p.Leu1595Phe, XP_047293350.1:p.Leu1592Phe, XP_047293351.1:p.Leu1590Phe, XP_047293352.1:p.Leu1579Phe, NP_001365134.1:p.Leu1554Phe, NP_001365136.1:p.Leu1554Phe, XP_047293353.1:p.Leu1552Phe, XP_047293355.1:p.Leu1526Phe, XP_047293357.1:p.Leu1299Phe, XP_047293349.1:p.Leu1659Phe, XP_047293354.1:p.Leu1595Phe, NP_001382149.1:p.Leu1194Phe, XP_047293356.1:p.Leu1554Phe

      3.

      rs1490166389 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        18:8825278 (GRCh38)
        18:8825276 (GRCh37)
        Canonical SPDI:
        NC_000018.10:8825277:C:T
        Gene:
        MTCL1 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000018.10:g.8825278C>T, NC_000018.9:g.8825276C>T, XM_011525640.4:c.4956C>T, XM_011525640.3:c.3939C>T, XM_011525640.2:c.4956C>T, XM_011525640.1:c.4956C>T, NM_015210.4:c.3768C>T, NM_015210.3:c.3768C>T, XM_017025674.3:c.3960C>T, XM_017025674.2:c.3960C>T, XM_017025674.1:c.3960C>T, XM_017025671.3:c.4113C>T, XM_017025671.2:c.4113C>T, XM_017025671.1:c.4113C>T, XM_024451125.2:c.1872C>T, XM_024451125.1:c.1872C>T, XM_024451126.2:c.1872C>T, XM_024451126.1:c.1872C>T, XM_024451115.2:c.5040C>T, XM_024451115.1:c.4023C>T, XM_024451110.2:c.5040C>T, XM_024451110.1:c.4023C>T, XM_024451111.2:c.5037C>T, XM_024451111.1:c.4020C>T, XM_024451112.2:c.4962C>T, XM_024451112.1:c.3945C>T, XM_024451113.2:c.4926C>T, XM_024451113.1:c.3909C>T, XM_024451114.2:c.4917C>T, XM_024451114.1:c.3900C>T, XM_024451117.2:c.4842C>T, XM_024451117.1:c.3825C>T, XM_024451118.2:c.4803C>T, XM_024451118.1:c.3786C>T, XM_017025672.2:c.3960C>T, XM_017025672.1:c.3960C>T, XM_017025673.2:c.3960C>T, XM_017025673.1:c.3960C>T, XM_024451122.2:c.3960C>T, XM_024451122.1:c.3960C>T, XM_024451123.2:c.3759C>T, XM_024451123.1:c.3759C>T, NM_001378206.1:c.4848C>T, NM_001395333.1:c.4848C>T, XM_047437394.1:c.4839C>T, XM_047437395.1:c.4833C>T, XM_047437396.1:c.4800C>T, NM_001378205.1:c.4725C>T, NM_001378207.1:c.4725C>T, XM_047437397.1:c.4719C>T, XM_047437399.1:c.4641C>T, XM_047437401.1:c.3960C>T, XM_047437393.1:c.5040C>T, XM_047437398.1:c.4848C>T, NM_001395220.1:c.3645C>T, XM_047437400.1:c.4725C>T

        4.

        rs1490005037 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          18:8819254 (GRCh38)
          18:8819252 (GRCh37)
          Canonical SPDI:
          NC_000018.10:8819253:C:A
          Gene:
          MTCL1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000018.10:g.8819254C>A, NC_000018.9:g.8819252C>A, XM_011525640.4:c.4339C>A, XM_011525640.3:c.3322C>A, XM_011525640.2:c.4339C>A, XM_011525640.1:c.4339C>A, NM_015210.4:c.3151C>A, NM_015210.3:c.3151C>A, XM_017025674.3:c.3343C>A, XM_017025674.2:c.3343C>A, XM_017025674.1:c.3343C>A, XM_017025671.3:c.3496C>A, XM_017025671.2:c.3496C>A, XM_017025671.1:c.3496C>A, XM_024451125.2:c.1255C>A, XM_024451125.1:c.1255C>A, XM_024451126.2:c.1255C>A, XM_024451126.1:c.1255C>A, XM_024451115.2:c.4423C>A, XM_024451115.1:c.3406C>A, XM_024451110.2:c.4423C>A, XM_024451110.1:c.3406C>A, XM_024451111.2:c.4420C>A, XM_024451111.1:c.3403C>A, XM_024451112.2:c.4345C>A, XM_024451112.1:c.3328C>A, XM_024451113.2:c.4309C>A, XM_024451113.1:c.3292C>A, XM_024451114.2:c.4300C>A, XM_024451114.1:c.3283C>A, XM_024451117.2:c.4225C>A, XM_024451117.1:c.3208C>A, XM_024451118.2:c.4186C>A, XM_024451118.1:c.3169C>A, XM_017025672.2:c.3343C>A, XM_017025672.1:c.3343C>A, XM_017025673.2:c.3343C>A, XM_017025673.1:c.3343C>A, XM_024451122.2:c.3343C>A, XM_024451122.1:c.3343C>A, XM_024451123.2:c.3142C>A, XM_024451123.1:c.3142C>A, XM_024451124.2:c.4423C>A, XM_024451124.1:c.3406C>A, NM_001378206.1:c.4231C>A, NM_001395333.1:c.4231C>A, XM_047437394.1:c.4222C>A, XM_047437395.1:c.4216C>A, XM_047437396.1:c.4183C>A, NM_001378205.1:c.4108C>A, NM_001378207.1:c.4108C>A, XM_047437397.1:c.4102C>A, XM_047437399.1:c.4024C>A, XM_047437401.1:c.3343C>A, XM_047437393.1:c.4423C>A, XM_047437398.1:c.4231C>A, NM_001395220.1:c.3028C>A, XM_047437400.1:c.4108C>A, XP_011523942.3:p.Pro1447Thr, NP_056025.2:p.Pro1051Thr, XP_016881163.1:p.Pro1115Thr, XP_016881160.1:p.Pro1166Thr, XP_024306893.1:p.Pro419Thr, XP_024306894.1:p.Pro419Thr, XP_024306883.2:p.Pro1475Thr, XP_024306878.2:p.Pro1475Thr, XP_024306879.2:p.Pro1474Thr, XP_024306880.2:p.Pro1449Thr, XP_024306881.2:p.Pro1437Thr, XP_024306882.2:p.Pro1434Thr, XP_024306885.2:p.Pro1409Thr, XP_024306886.2:p.Pro1396Thr, XP_016881161.1:p.Pro1115Thr, XP_016881162.1:p.Pro1115Thr, XP_024306890.1:p.Pro1115Thr, XP_024306891.1:p.Pro1048Thr, XP_024306892.2:p.Pro1475Thr, NP_001365135.1:p.Pro1411Thr, NP_001382262.1:p.Pro1411Thr, XP_047293350.1:p.Pro1408Thr, XP_047293351.1:p.Pro1406Thr, XP_047293352.1:p.Pro1395Thr, NP_001365134.1:p.Pro1370Thr, NP_001365136.1:p.Pro1370Thr, XP_047293353.1:p.Pro1368Thr, XP_047293355.1:p.Pro1342Thr, XP_047293357.1:p.Pro1115Thr, XP_047293349.1:p.Pro1475Thr, XP_047293354.1:p.Pro1411Thr, NP_001382149.1:p.Pro1010Thr, XP_047293356.1:p.Pro1370Thr

          5.

          rs1489780407 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            18:8783814 (GRCh38)
            18:8783812 (GRCh37)
            Canonical SPDI:
            NC_000018.10:8783813:C:G,NC_000018.10:8783813:C:T
            Gene:
            MTCL1 (Varview)
            Functional Consequence:
            synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000011/3 (TOPMED)
            G=0.000014/2 (GnomAD)
            HGVS:
            NC_000018.10:g.8783814C>G, NC_000018.10:g.8783814C>T, NC_000018.9:g.8783812C>G, NC_000018.9:g.8783812C>T, XM_011525640.4:c.1860C>G, XM_011525640.4:c.1860C>T, XM_011525640.3:c.843C>G, XM_011525640.3:c.843C>T, XM_011525640.2:c.1860C>G, XM_011525640.2:c.1860C>T, XM_011525640.1:c.1860C>G, XM_011525640.1:c.1860C>T, NM_015210.4:c.702C>G, NM_015210.4:c.702C>T, NM_015210.3:c.702C>G, NM_015210.3:c.702C>T, XM_017025674.3:c.780C>G, XM_017025674.3:c.780C>T, XM_017025674.2:c.780C>G, XM_017025674.2:c.780C>T, XM_017025674.1:c.780C>G, XM_017025674.1:c.780C>T, XM_017025671.3:c.933C>G, XM_017025671.3:c.933C>T, XM_017025671.2:c.933C>G, XM_017025671.2:c.933C>T, XM_017025671.1:c.933C>G, XM_017025671.1:c.933C>T, XM_024451115.2:c.1860C>G, XM_024451115.2:c.1860C>T, XM_024451115.1:c.843C>G, XM_024451115.1:c.843C>T, XM_024451110.2:c.1860C>G, XM_024451110.2:c.1860C>T, XM_024451110.1:c.843C>G, XM_024451110.1:c.843C>T, XM_024451111.2:c.1857C>G, XM_024451111.2:c.1857C>T, XM_024451111.1:c.840C>G, XM_024451111.1:c.840C>T, XM_024451112.2:c.1782C>G, XM_024451112.2:c.1782C>T, XM_024451112.1:c.765C>G, XM_024451112.1:c.765C>T, XM_024451113.2:c.1860C>G, XM_024451113.2:c.1860C>T, XM_024451113.1:c.843C>G, XM_024451113.1:c.843C>T, XM_024451114.2:c.1860C>G, XM_024451114.2:c.1860C>T, XM_024451114.1:c.843C>G, XM_024451114.1:c.843C>T, XM_024451117.2:c.1860C>G, XM_024451117.2:c.1860C>T, XM_024451117.1:c.843C>G, XM_024451117.1:c.843C>T, XM_024451118.2:c.1860C>G, XM_024451118.2:c.1860C>T, XM_024451118.1:c.843C>G, XM_024451118.1:c.843C>T, XM_017025672.2:c.780C>G, XM_017025672.2:c.780C>T, XM_017025672.1:c.780C>G, XM_017025672.1:c.780C>T, XM_017025673.2:c.780C>G, XM_017025673.2:c.780C>T, XM_017025673.1:c.780C>G, XM_017025673.1:c.780C>T, XM_024451122.2:c.780C>G, XM_024451122.2:c.780C>T, XM_024451122.1:c.780C>G, XM_024451122.1:c.780C>T, XM_024451123.2:c.702C>G, XM_024451123.2:c.702C>T, XM_024451123.1:c.702C>G, XM_024451123.1:c.702C>T, XM_024451124.2:c.1860C>G, XM_024451124.2:c.1860C>T, XM_024451124.1:c.843C>G, XM_024451124.1:c.843C>T, XR_002958167.2:n.1965C>G, XR_002958167.2:n.1965C>T, XR_002958167.1:n.1001C>G, XR_002958167.1:n.1001C>T, NM_001378206.1:c.1782C>G, NM_001378206.1:c.1782C>T, NM_001395333.1:c.1782C>G, NM_001395333.1:c.1782C>T, XM_047437394.1:c.1782C>G, XM_047437394.1:c.1782C>T, XM_047437395.1:c.1860C>G, XM_047437395.1:c.1860C>T, XM_047437396.1:c.1857C>G, XM_047437396.1:c.1857C>T, NM_001378205.1:c.1782C>G, NM_001378205.1:c.1782C>T, NM_001378207.1:c.1782C>G, NM_001378207.1:c.1782C>T, XM_047437397.1:c.1860C>G, XM_047437397.1:c.1860C>T, XM_047437399.1:c.1782C>G, XM_047437399.1:c.1782C>T, XM_047437401.1:c.780C>G, XM_047437401.1:c.780C>T, XM_047437393.1:c.1860C>G, XM_047437393.1:c.1860C>T, XM_047437398.1:c.1782C>G, XM_047437398.1:c.1782C>T, NM_001395220.1:c.702C>G, NM_001395220.1:c.702C>T, XM_047437400.1:c.1782C>G, XM_047437400.1:c.1782C>T, XR_007066128.1:n.1965C>G, XR_007066128.1:n.1965C>T

            6.

            rs1489402765 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              18:8779035 (GRCh38)
              18:8779033 (GRCh37)
              Canonical SPDI:
              NC_000018.10:8779034:G:A,NC_000018.10:8779034:G:T
              Gene:
              MTCL1 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,splice_acceptor_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000054/1 (ALFA)
              T=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              A=0.000223/1 (Estonian)
              HGVS:
              NC_000018.10:g.8779035G>A, NC_000018.10:g.8779035G>T, NC_000018.9:g.8779033G>A, NC_000018.9:g.8779033G>T, XM_011525640.4:c.1500G>A, XM_011525640.4:c.1500G>T, XM_011525640.3:c.483G>A, XM_011525640.3:c.483G>T, XM_011525640.2:c.1500G>A, XM_011525640.2:c.1500G>T, XM_011525640.1:c.1500G>A, XM_011525640.1:c.1500G>T, XM_017025674.3:c.420G>A, XM_017025674.3:c.420G>T, XM_017025674.2:c.420G>A, XM_017025674.2:c.420G>T, XM_017025674.1:c.420G>A, XM_017025674.1:c.420G>T, XM_017025671.3:c.573G>A, XM_017025671.3:c.573G>T, XM_017025671.2:c.573G>A, XM_017025671.2:c.573G>T, XM_017025671.1:c.573G>A, XM_017025671.1:c.573G>T, XM_024451115.2:c.1500G>A, XM_024451115.2:c.1500G>T, XM_024451115.1:c.483G>A, XM_024451115.1:c.483G>T, XM_024451110.2:c.1500G>A, XM_024451110.2:c.1500G>T, XM_024451110.1:c.483G>A, XM_024451110.1:c.483G>T, XM_024451113.2:c.1500G>A, XM_024451113.2:c.1500G>T, XM_024451113.1:c.483G>A, XM_024451113.1:c.483G>T, XM_024451114.2:c.1500G>A, XM_024451114.2:c.1500G>T, XM_024451114.1:c.483G>A, XM_024451114.1:c.483G>T, XM_024451117.2:c.1500G>A, XM_024451117.2:c.1500G>T, XM_024451117.1:c.483G>A, XM_024451117.1:c.483G>T, XM_024451118.2:c.1500G>A, XM_024451118.2:c.1500G>T, XM_024451118.1:c.483G>A, XM_024451118.1:c.483G>T, XM_017025672.2:c.420G>A, XM_017025672.2:c.420G>T, XM_017025672.1:c.420G>A, XM_017025672.1:c.420G>T, XM_017025673.2:c.420G>A, XM_017025673.2:c.420G>T, XM_017025673.1:c.420G>A, XM_017025673.1:c.420G>T, XM_024451122.2:c.420G>A, XM_024451122.2:c.420G>T, XM_024451122.1:c.420G>A, XM_024451122.1:c.420G>T, XM_024451124.2:c.1500G>A, XM_024451124.2:c.1500G>T, XM_024451124.1:c.483G>A, XM_024451124.1:c.483G>T, XR_002958167.2:n.1605G>A, XR_002958167.2:n.1605G>T, XR_002958167.1:n.641G>A, XR_002958167.1:n.641G>T, XM_047437395.1:c.1500G>A, XM_047437395.1:c.1500G>T, XM_047437397.1:c.1500G>A, XM_047437397.1:c.1500G>T, XM_047437401.1:c.420G>A, XM_047437401.1:c.420G>T, XM_047437393.1:c.1500G>A, XM_047437393.1:c.1500G>T, XR_007066128.1:n.1605G>A, XR_007066128.1:n.1605G>T, XP_011523942.3:p.Gln500His, XP_016881163.1:p.Gln140His, XP_016881160.1:p.Gln191His, XP_024306883.2:p.Gln500His, XP_024306878.2:p.Gln500His, XP_024306881.2:p.Gln500His, XP_024306882.2:p.Gln500His, XP_024306885.2:p.Gln500His, XP_024306886.2:p.Gln500His, XP_016881161.1:p.Gln140His, XP_016881162.1:p.Gln140His, XP_024306890.1:p.Gln140His, XP_024306892.2:p.Gln500His, XP_047293351.1:p.Gln500His, XP_047293353.1:p.Gln500His, XP_047293357.1:p.Gln140His, XP_047293349.1:p.Gln500His

              7.

              rs1488974826 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                18:8825449 (GRCh38)
                18:8825447 (GRCh37)
                Canonical SPDI:
                NC_000018.10:8825448:G:A,NC_000018.10:8825448:G:C
                Gene:
                MTCL1 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000048/1 (ALFA)
                A=0.000014/2 (GnomAD)
                HGVS:
                NC_000018.10:g.8825449G>A, NC_000018.10:g.8825449G>C, NC_000018.9:g.8825447G>A, NC_000018.9:g.8825447G>C, XM_011525640.4:c.5127G>A, XM_011525640.4:c.5127G>C, XM_011525640.3:c.4110G>A, XM_011525640.3:c.4110G>C, XM_011525640.2:c.5127G>A, XM_011525640.2:c.5127G>C, XM_011525640.1:c.5127G>A, XM_011525640.1:c.5127G>C, NM_015210.4:c.3939G>A, NM_015210.4:c.3939G>C, NM_015210.3:c.3939G>A, NM_015210.3:c.3939G>C, XM_017025674.3:c.4131G>A, XM_017025674.3:c.4131G>C, XM_017025674.2:c.4131G>A, XM_017025674.2:c.4131G>C, XM_017025674.1:c.4131G>A, XM_017025674.1:c.4131G>C, XM_017025671.3:c.4284G>A, XM_017025671.3:c.4284G>C, XM_017025671.2:c.4284G>A, XM_017025671.2:c.4284G>C, XM_017025671.1:c.4284G>A, XM_017025671.1:c.4284G>C, XM_024451125.2:c.2043G>A, XM_024451125.2:c.2043G>C, XM_024451125.1:c.2043G>A, XM_024451125.1:c.2043G>C, XM_024451126.2:c.2043G>A, XM_024451126.2:c.2043G>C, XM_024451126.1:c.2043G>A, XM_024451126.1:c.2043G>C, XM_024451115.2:c.5211G>A, XM_024451115.2:c.5211G>C, XM_024451115.1:c.4194G>A, XM_024451115.1:c.4194G>C, XM_024451110.2:c.5211G>A, XM_024451110.2:c.5211G>C, XM_024451110.1:c.4194G>A, XM_024451110.1:c.4194G>C, XM_024451111.2:c.5208G>A, XM_024451111.2:c.5208G>C, XM_024451111.1:c.4191G>A, XM_024451111.1:c.4191G>C, XM_024451112.2:c.5133G>A, XM_024451112.2:c.5133G>C, XM_024451112.1:c.4116G>A, XM_024451112.1:c.4116G>C, XM_024451113.2:c.5097G>A, XM_024451113.2:c.5097G>C, XM_024451113.1:c.4080G>A, XM_024451113.1:c.4080G>C, XM_024451114.2:c.5088G>A, XM_024451114.2:c.5088G>C, XM_024451114.1:c.4071G>A, XM_024451114.1:c.4071G>C, XM_024451117.2:c.5013G>A, XM_024451117.2:c.5013G>C, XM_024451117.1:c.3996G>A, XM_024451117.1:c.3996G>C, XM_024451118.2:c.4974G>A, XM_024451118.2:c.4974G>C, XM_024451118.1:c.3957G>A, XM_024451118.1:c.3957G>C, XM_017025672.2:c.4131G>A, XM_017025672.2:c.4131G>C, XM_017025672.1:c.4131G>A, XM_017025672.1:c.4131G>C, XM_017025673.2:c.4131G>A, XM_017025673.2:c.4131G>C, XM_017025673.1:c.4131G>A, XM_017025673.1:c.4131G>C, XM_024451122.2:c.4131G>A, XM_024451122.2:c.4131G>C, XM_024451122.1:c.4131G>A, XM_024451122.1:c.4131G>C, XM_024451123.2:c.3930G>A, XM_024451123.2:c.3930G>C, XM_024451123.1:c.3930G>A, XM_024451123.1:c.3930G>C, NM_001378206.1:c.5019G>A, NM_001378206.1:c.5019G>C, NM_001395333.1:c.5019G>A, NM_001395333.1:c.5019G>C, XM_047437394.1:c.5010G>A, XM_047437394.1:c.5010G>C, XM_047437395.1:c.5004G>A, XM_047437395.1:c.5004G>C, XM_047437396.1:c.4971G>A, XM_047437396.1:c.4971G>C, NM_001378205.1:c.4896G>A, NM_001378205.1:c.4896G>C, NM_001378207.1:c.4896G>A, NM_001378207.1:c.4896G>C, XM_047437397.1:c.4890G>A, XM_047437397.1:c.4890G>C, XM_047437399.1:c.4812G>A, XM_047437399.1:c.4812G>C, XM_047437401.1:c.4131G>A, XM_047437401.1:c.4131G>C, XM_047437393.1:c.5211G>A, XM_047437393.1:c.5211G>C, XM_047437398.1:c.5019G>A, XM_047437398.1:c.5019G>C, NM_001395220.1:c.3816G>A, NM_001395220.1:c.3816G>C, XM_047437400.1:c.4896G>A, XM_047437400.1:c.4896G>C

                8.

                rs1488939420 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  18:8783608 (GRCh38)
                  18:8783606 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:8783607:C:A,NC_000018.10:8783607:C:T
                  Gene:
                  MTCL1 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0.000111/1 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000018.10:g.8783608C>A, NC_000018.10:g.8783608C>T, NC_000018.9:g.8783606C>A, NC_000018.9:g.8783606C>T, XM_011525640.4:c.1654C>A, XM_011525640.4:c.1654C>T, XM_011525640.3:c.637C>A, XM_011525640.3:c.637C>T, XM_011525640.2:c.1654C>A, XM_011525640.2:c.1654C>T, XM_011525640.1:c.1654C>A, XM_011525640.1:c.1654C>T, NM_015210.4:c.496C>A, NM_015210.4:c.496C>T, NM_015210.3:c.496C>A, NM_015210.3:c.496C>T, XM_017025674.3:c.574C>A, XM_017025674.3:c.574C>T, XM_017025674.2:c.574C>A, XM_017025674.2:c.574C>T, XM_017025674.1:c.574C>A, XM_017025674.1:c.574C>T, XM_017025671.3:c.727C>A, XM_017025671.3:c.727C>T, XM_017025671.2:c.727C>A, XM_017025671.2:c.727C>T, XM_017025671.1:c.727C>A, XM_017025671.1:c.727C>T, XM_024451115.2:c.1654C>A, XM_024451115.2:c.1654C>T, XM_024451115.1:c.637C>A, XM_024451115.1:c.637C>T, XM_024451110.2:c.1654C>A, XM_024451110.2:c.1654C>T, XM_024451110.1:c.637C>A, XM_024451110.1:c.637C>T, XM_024451111.2:c.1651C>A, XM_024451111.2:c.1651C>T, XM_024451111.1:c.634C>A, XM_024451111.1:c.634C>T, XM_024451112.2:c.1576C>A, XM_024451112.2:c.1576C>T, XM_024451112.1:c.559C>A, XM_024451112.1:c.559C>T, XM_024451113.2:c.1654C>A, XM_024451113.2:c.1654C>T, XM_024451113.1:c.637C>A, XM_024451113.1:c.637C>T, XM_024451114.2:c.1654C>A, XM_024451114.2:c.1654C>T, XM_024451114.1:c.637C>A, XM_024451114.1:c.637C>T, XM_024451117.2:c.1654C>A, XM_024451117.2:c.1654C>T, XM_024451117.1:c.637C>A, XM_024451117.1:c.637C>T, XM_024451118.2:c.1654C>A, XM_024451118.2:c.1654C>T, XM_024451118.1:c.637C>A, XM_024451118.1:c.637C>T, XM_017025672.2:c.574C>A, XM_017025672.2:c.574C>T, XM_017025672.1:c.574C>A, XM_017025672.1:c.574C>T, XM_017025673.2:c.574C>A, XM_017025673.2:c.574C>T, XM_017025673.1:c.574C>A, XM_017025673.1:c.574C>T, XM_024451122.2:c.574C>A, XM_024451122.2:c.574C>T, XM_024451122.1:c.574C>A, XM_024451122.1:c.574C>T, XM_024451123.2:c.496C>A, XM_024451123.2:c.496C>T, XM_024451123.1:c.496C>A, XM_024451123.1:c.496C>T, XM_024451124.2:c.1654C>A, XM_024451124.2:c.1654C>T, XM_024451124.1:c.637C>A, XM_024451124.1:c.637C>T, XR_002958167.2:n.1759C>A, XR_002958167.2:n.1759C>T, XR_002958167.1:n.795C>A, XR_002958167.1:n.795C>T, NM_001378206.1:c.1576C>A, NM_001378206.1:c.1576C>T, NM_001395333.1:c.1576C>A, NM_001395333.1:c.1576C>T, XM_047437394.1:c.1576C>A, XM_047437394.1:c.1576C>T, XM_047437395.1:c.1654C>A, XM_047437395.1:c.1654C>T, XM_047437396.1:c.1651C>A, XM_047437396.1:c.1651C>T, NM_001378205.1:c.1576C>A, NM_001378205.1:c.1576C>T, NM_001378207.1:c.1576C>A, NM_001378207.1:c.1576C>T, XM_047437397.1:c.1654C>A, XM_047437397.1:c.1654C>T, XM_047437399.1:c.1576C>A, XM_047437399.1:c.1576C>T, XM_047437401.1:c.574C>A, XM_047437401.1:c.574C>T, XM_047437393.1:c.1654C>A, XM_047437393.1:c.1654C>T, XM_047437398.1:c.1576C>A, XM_047437398.1:c.1576C>T, NM_001395220.1:c.496C>A, NM_001395220.1:c.496C>T, XM_047437400.1:c.1576C>A, XM_047437400.1:c.1576C>T, XR_007066128.1:n.1759C>A, XR_007066128.1:n.1759C>T, XP_011523942.3:p.Leu552Ile, NP_056025.2:p.Leu166Ile, XP_016881163.1:p.Leu192Ile, XP_016881160.1:p.Leu243Ile, XP_024306883.2:p.Leu552Ile, XP_024306878.2:p.Leu552Ile, XP_024306879.2:p.Leu551Ile, XP_024306880.2:p.Leu526Ile, XP_024306881.2:p.Leu552Ile, XP_024306882.2:p.Leu552Ile, XP_024306885.2:p.Leu552Ile, XP_024306886.2:p.Leu552Ile, XP_016881161.1:p.Leu192Ile, XP_016881162.1:p.Leu192Ile, XP_024306890.1:p.Leu192Ile, XP_024306891.1:p.Leu166Ile, XP_024306892.2:p.Leu552Ile, NP_001365135.1:p.Leu526Ile, NP_001382262.1:p.Leu526Ile, XP_047293350.1:p.Leu526Ile, XP_047293351.1:p.Leu552Ile, XP_047293352.1:p.Leu551Ile, NP_001365134.1:p.Leu526Ile, NP_001365136.1:p.Leu526Ile, XP_047293353.1:p.Leu552Ile, XP_047293355.1:p.Leu526Ile, XP_047293357.1:p.Leu192Ile, XP_047293349.1:p.Leu552Ile, XP_047293354.1:p.Leu526Ile, NP_001382149.1:p.Leu166Ile, XP_047293356.1:p.Leu526Ile

                  9.

                  rs1488651592 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    18:8825748 (GRCh38)
                    18:8825746 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:8825747:G:A,NC_000018.10:8825747:G:T
                    Gene:
                    MTCL1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000018.10:g.8825748G>A, NC_000018.10:g.8825748G>T, NC_000018.9:g.8825746G>A, NC_000018.9:g.8825746G>T, XM_011525640.4:c.5426G>A, XM_011525640.4:c.5426G>T, XM_011525640.3:c.4409G>A, XM_011525640.3:c.4409G>T, XM_011525640.2:c.5426G>A, XM_011525640.2:c.5426G>T, XM_011525640.1:c.5426G>A, XM_011525640.1:c.5426G>T, NM_015210.4:c.4238G>A, NM_015210.4:c.4238G>T, NM_015210.3:c.4238G>A, NM_015210.3:c.4238G>T, XM_017025674.3:c.4430G>A, XM_017025674.3:c.4430G>T, XM_017025674.2:c.4430G>A, XM_017025674.2:c.4430G>T, XM_017025674.1:c.4430G>A, XM_017025674.1:c.4430G>T, XM_017025671.3:c.4583G>A, XM_017025671.3:c.4583G>T, XM_017025671.2:c.4583G>A, XM_017025671.2:c.4583G>T, XM_017025671.1:c.4583G>A, XM_017025671.1:c.4583G>T, XM_024451125.2:c.2342G>A, XM_024451125.2:c.2342G>T, XM_024451125.1:c.2342G>A, XM_024451125.1:c.2342G>T, XM_024451126.2:c.2342G>A, XM_024451126.2:c.2342G>T, XM_024451126.1:c.2342G>A, XM_024451126.1:c.2342G>T, XM_024451115.2:c.5510G>A, XM_024451115.2:c.5510G>T, XM_024451115.1:c.4493G>A, XM_024451115.1:c.4493G>T, XM_024451110.2:c.5510G>A, XM_024451110.2:c.5510G>T, XM_024451110.1:c.4493G>A, XM_024451110.1:c.4493G>T, XM_024451111.2:c.5507G>A, XM_024451111.2:c.5507G>T, XM_024451111.1:c.4490G>A, XM_024451111.1:c.4490G>T, XM_024451112.2:c.5432G>A, XM_024451112.2:c.5432G>T, XM_024451112.1:c.4415G>A, XM_024451112.1:c.4415G>T, XM_024451113.2:c.5396G>A, XM_024451113.2:c.5396G>T, XM_024451113.1:c.4379G>A, XM_024451113.1:c.4379G>T, XM_024451114.2:c.5387G>A, XM_024451114.2:c.5387G>T, XM_024451114.1:c.4370G>A, XM_024451114.1:c.4370G>T, XM_024451117.2:c.5312G>A, XM_024451117.2:c.5312G>T, XM_024451117.1:c.4295G>A, XM_024451117.1:c.4295G>T, XM_024451118.2:c.5273G>A, XM_024451118.2:c.5273G>T, XM_024451118.1:c.4256G>A, XM_024451118.1:c.4256G>T, XM_017025672.2:c.4430G>A, XM_017025672.2:c.4430G>T, XM_017025672.1:c.4430G>A, XM_017025672.1:c.4430G>T, XM_017025673.2:c.4430G>A, XM_017025673.2:c.4430G>T, XM_017025673.1:c.4430G>A, XM_017025673.1:c.4430G>T, XM_024451122.2:c.4430G>A, XM_024451122.2:c.4430G>T, XM_024451122.1:c.4430G>A, XM_024451122.1:c.4430G>T, XM_024451123.2:c.4229G>A, XM_024451123.2:c.4229G>T, XM_024451123.1:c.4229G>A, XM_024451123.1:c.4229G>T, NM_001378206.1:c.5318G>A, NM_001378206.1:c.5318G>T, NM_001395333.1:c.5318G>A, NM_001395333.1:c.5318G>T, XM_047437394.1:c.5309G>A, XM_047437394.1:c.5309G>T, XM_047437395.1:c.5303G>A, XM_047437395.1:c.5303G>T, XM_047437396.1:c.5270G>A, XM_047437396.1:c.5270G>T, NM_001378205.1:c.5195G>A, NM_001378205.1:c.5195G>T, NM_001378207.1:c.5195G>A, NM_001378207.1:c.5195G>T, XM_047437397.1:c.5189G>A, XM_047437397.1:c.5189G>T, XM_047437399.1:c.5111G>A, XM_047437399.1:c.5111G>T, XM_047437401.1:c.4430G>A, XM_047437401.1:c.4430G>T, XM_047437393.1:c.5510G>A, XM_047437393.1:c.5510G>T, XM_047437398.1:c.5318G>A, XM_047437398.1:c.5318G>T, NM_001395220.1:c.4115G>A, NM_001395220.1:c.4115G>T, XM_047437400.1:c.5195G>A, XM_047437400.1:c.5195G>T, XP_011523942.3:p.Gly1809Glu, XP_011523942.3:p.Gly1809Val, NP_056025.2:p.Gly1413Glu, NP_056025.2:p.Gly1413Val, XP_016881163.1:p.Gly1477Glu, XP_016881163.1:p.Gly1477Val, XP_016881160.1:p.Gly1528Glu, XP_016881160.1:p.Gly1528Val, XP_024306893.1:p.Gly781Glu, XP_024306893.1:p.Gly781Val, XP_024306894.1:p.Gly781Glu, XP_024306894.1:p.Gly781Val, XP_024306883.2:p.Gly1837Glu, XP_024306883.2:p.Gly1837Val, XP_024306878.2:p.Gly1837Glu, XP_024306878.2:p.Gly1837Val, XP_024306879.2:p.Gly1836Glu, XP_024306879.2:p.Gly1836Val, XP_024306880.2:p.Gly1811Glu, XP_024306880.2:p.Gly1811Val, XP_024306881.2:p.Gly1799Glu, XP_024306881.2:p.Gly1799Val, XP_024306882.2:p.Gly1796Glu, XP_024306882.2:p.Gly1796Val, XP_024306885.2:p.Gly1771Glu, XP_024306885.2:p.Gly1771Val, XP_024306886.2:p.Gly1758Glu, XP_024306886.2:p.Gly1758Val, XP_016881161.1:p.Gly1477Glu, XP_016881161.1:p.Gly1477Val, XP_016881162.1:p.Gly1477Glu, XP_016881162.1:p.Gly1477Val, XP_024306890.1:p.Gly1477Glu, XP_024306890.1:p.Gly1477Val, XP_024306891.1:p.Gly1410Glu, XP_024306891.1:p.Gly1410Val, NP_001365135.1:p.Gly1773Glu, NP_001365135.1:p.Gly1773Val, NP_001382262.1:p.Gly1773Glu, NP_001382262.1:p.Gly1773Val, XP_047293350.1:p.Gly1770Glu, XP_047293350.1:p.Gly1770Val, XP_047293351.1:p.Gly1768Glu, XP_047293351.1:p.Gly1768Val, XP_047293352.1:p.Gly1757Glu, XP_047293352.1:p.Gly1757Val, NP_001365134.1:p.Gly1732Glu, NP_001365134.1:p.Gly1732Val, NP_001365136.1:p.Gly1732Glu, NP_001365136.1:p.Gly1732Val, XP_047293353.1:p.Gly1730Glu, XP_047293353.1:p.Gly1730Val, XP_047293355.1:p.Gly1704Glu, XP_047293355.1:p.Gly1704Val, XP_047293357.1:p.Gly1477Glu, XP_047293357.1:p.Gly1477Val, XP_047293349.1:p.Gly1837Glu, XP_047293349.1:p.Gly1837Val, XP_047293354.1:p.Gly1773Glu, XP_047293354.1:p.Gly1773Val, NP_001382149.1:p.Gly1372Glu, NP_001382149.1:p.Gly1372Val, XP_047293356.1:p.Gly1732Glu, XP_047293356.1:p.Gly1732Val

                    10.

                    rs1488307302 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      18:8825774 (GRCh38)
                      18:8825772 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:8825773:T:C
                      Gene:
                      MTCL1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000018.10:g.8825774T>C, NC_000018.9:g.8825772T>C, XM_011525640.4:c.5452T>C, XM_011525640.3:c.4435T>C, XM_011525640.2:c.5452T>C, XM_011525640.1:c.5452T>C, NM_015210.4:c.4264T>C, NM_015210.3:c.4264T>C, XM_017025674.3:c.4456T>C, XM_017025674.2:c.4456T>C, XM_017025674.1:c.4456T>C, XM_017025671.3:c.4609T>C, XM_017025671.2:c.4609T>C, XM_017025671.1:c.4609T>C, XM_024451125.2:c.2368T>C, XM_024451125.1:c.2368T>C, XM_024451126.2:c.2368T>C, XM_024451126.1:c.2368T>C, XM_024451115.2:c.5536T>C, XM_024451115.1:c.4519T>C, XM_024451110.2:c.5536T>C, XM_024451110.1:c.4519T>C, XM_024451111.2:c.5533T>C, XM_024451111.1:c.4516T>C, XM_024451112.2:c.5458T>C, XM_024451112.1:c.4441T>C, XM_024451113.2:c.5422T>C, XM_024451113.1:c.4405T>C, XM_024451114.2:c.5413T>C, XM_024451114.1:c.4396T>C, XM_024451117.2:c.5338T>C, XM_024451117.1:c.4321T>C, XM_024451118.2:c.5299T>C, XM_024451118.1:c.4282T>C, XM_017025672.2:c.4456T>C, XM_017025672.1:c.4456T>C, XM_017025673.2:c.4456T>C, XM_017025673.1:c.4456T>C, XM_024451122.2:c.4456T>C, XM_024451122.1:c.4456T>C, XM_024451123.2:c.4255T>C, XM_024451123.1:c.4255T>C, NM_001378206.1:c.5344T>C, NM_001395333.1:c.5344T>C, XM_047437394.1:c.5335T>C, XM_047437395.1:c.5329T>C, XM_047437396.1:c.5296T>C, NM_001378205.1:c.5221T>C, NM_001378207.1:c.5221T>C, XM_047437397.1:c.5215T>C, XM_047437399.1:c.5137T>C, XM_047437401.1:c.4456T>C, XM_047437393.1:c.5536T>C, XM_047437398.1:c.5344T>C, NM_001395220.1:c.4141T>C, XM_047437400.1:c.5221T>C, XP_011523942.3:p.Ser1818Pro, NP_056025.2:p.Ser1422Pro, XP_016881163.1:p.Ser1486Pro, XP_016881160.1:p.Ser1537Pro, XP_024306893.1:p.Ser790Pro, XP_024306894.1:p.Ser790Pro, XP_024306883.2:p.Ser1846Pro, XP_024306878.2:p.Ser1846Pro, XP_024306879.2:p.Ser1845Pro, XP_024306880.2:p.Ser1820Pro, XP_024306881.2:p.Ser1808Pro, XP_024306882.2:p.Ser1805Pro, XP_024306885.2:p.Ser1780Pro, XP_024306886.2:p.Ser1767Pro, XP_016881161.1:p.Ser1486Pro, XP_016881162.1:p.Ser1486Pro, XP_024306890.1:p.Ser1486Pro, XP_024306891.1:p.Ser1419Pro, NP_001365135.1:p.Ser1782Pro, NP_001382262.1:p.Ser1782Pro, XP_047293350.1:p.Ser1779Pro, XP_047293351.1:p.Ser1777Pro, XP_047293352.1:p.Ser1766Pro, NP_001365134.1:p.Ser1741Pro, NP_001365136.1:p.Ser1741Pro, XP_047293353.1:p.Ser1739Pro, XP_047293355.1:p.Ser1713Pro, XP_047293357.1:p.Ser1486Pro, XP_047293349.1:p.Ser1846Pro, XP_047293354.1:p.Ser1782Pro, NP_001382149.1:p.Ser1381Pro, XP_047293356.1:p.Ser1741Pro

                      11.

                      rs1488277613 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        18:8825377 (GRCh38)
                        18:8825375 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:8825376:C:T
                        Gene:
                        MTCL1 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000005/1 (GnomAD_exomes)
                        HGVS:
                        NC_000018.10:g.8825377C>T, NC_000018.9:g.8825375C>T, XM_011525640.4:c.5055C>T, XM_011525640.3:c.4038C>T, XM_011525640.2:c.5055C>T, XM_011525640.1:c.5055C>T, NM_015210.4:c.3867C>T, NM_015210.3:c.3867C>T, XM_017025674.3:c.4059C>T, XM_017025674.2:c.4059C>T, XM_017025674.1:c.4059C>T, XM_017025671.3:c.4212C>T, XM_017025671.2:c.4212C>T, XM_017025671.1:c.4212C>T, XM_024451125.2:c.1971C>T, XM_024451125.1:c.1971C>T, XM_024451126.2:c.1971C>T, XM_024451126.1:c.1971C>T, XM_024451115.2:c.5139C>T, XM_024451115.1:c.4122C>T, XM_024451110.2:c.5139C>T, XM_024451110.1:c.4122C>T, XM_024451111.2:c.5136C>T, XM_024451111.1:c.4119C>T, XM_024451112.2:c.5061C>T, XM_024451112.1:c.4044C>T, XM_024451113.2:c.5025C>T, XM_024451113.1:c.4008C>T, XM_024451114.2:c.5016C>T, XM_024451114.1:c.3999C>T, XM_024451117.2:c.4941C>T, XM_024451117.1:c.3924C>T, XM_024451118.2:c.4902C>T, XM_024451118.1:c.3885C>T, XM_017025672.2:c.4059C>T, XM_017025672.1:c.4059C>T, XM_017025673.2:c.4059C>T, XM_017025673.1:c.4059C>T, XM_024451122.2:c.4059C>T, XM_024451122.1:c.4059C>T, XM_024451123.2:c.3858C>T, XM_024451123.1:c.3858C>T, NM_001378206.1:c.4947C>T, NM_001395333.1:c.4947C>T, XM_047437394.1:c.4938C>T, XM_047437395.1:c.4932C>T, XM_047437396.1:c.4899C>T, NM_001378205.1:c.4824C>T, NM_001378207.1:c.4824C>T, XM_047437397.1:c.4818C>T, XM_047437399.1:c.4740C>T, XM_047437401.1:c.4059C>T, XM_047437393.1:c.5139C>T, XM_047437398.1:c.4947C>T, NM_001395220.1:c.3744C>T, XM_047437400.1:c.4824C>T

                        12.

                        rs1488164750 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          18:8793031 (GRCh38)
                          18:8793029 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:8793030:G:A
                          Gene:
                          MTCL1 (Varview)
                          Functional Consequence:
                          intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000018.10:g.8793031G>A, NC_000018.9:g.8793029G>A, XM_011525640.4:c.3079G>A, XM_011525640.3:c.2062G>A, XM_011525640.2:c.3079G>A, XM_011525640.1:c.3079G>A, NM_015210.4:c.1921G>A, NM_015210.3:c.1921G>A, XM_017025674.3:c.1999G>A, XM_017025674.2:c.1999G>A, XM_017025674.1:c.1999G>A, XM_017025671.3:c.2152G>A, XM_017025671.2:c.2152G>A, XM_017025671.1:c.2152G>A, XM_024451125.2:c.-90G>A, XM_024451125.1:c.-90G>A, XM_024451115.2:c.3079G>A, XM_024451115.1:c.2062G>A, XM_024451110.2:c.3079G>A, XM_024451110.1:c.2062G>A, XM_024451111.2:c.3076G>A, XM_024451111.1:c.2059G>A, XM_024451112.2:c.3001G>A, XM_024451112.1:c.1984G>A, XM_024451113.2:c.3079G>A, XM_024451113.1:c.2062G>A, XM_024451117.2:c.3079G>A, XM_024451117.1:c.2062G>A, XM_017025672.2:c.1999G>A, XM_017025672.1:c.1999G>A, XM_017025673.2:c.1999G>A, XM_017025673.1:c.1999G>A, XM_024451122.2:c.1999G>A, XM_024451122.1:c.1999G>A, XM_024451124.2:c.3079G>A, XM_024451124.1:c.2062G>A, XR_002958167.2:n.3184G>A, XR_002958167.1:n.2220G>A, NM_001378206.1:c.3001G>A, NM_001395333.1:c.3001G>A, XM_047437401.1:c.1999G>A, XM_047437393.1:c.3079G>A, XM_047437398.1:c.3001G>A, XP_011523942.3:p.Val1027Ile, NP_056025.2:p.Val641Ile, XP_016881163.1:p.Val667Ile, XP_016881160.1:p.Val718Ile, XP_024306883.2:p.Val1027Ile, XP_024306878.2:p.Val1027Ile, XP_024306879.2:p.Val1026Ile, XP_024306880.2:p.Val1001Ile, XP_024306881.2:p.Val1027Ile, XP_024306885.2:p.Val1027Ile, XP_016881161.1:p.Val667Ile, XP_016881162.1:p.Val667Ile, XP_024306890.1:p.Val667Ile, XP_024306892.2:p.Val1027Ile, NP_001365135.1:p.Val1001Ile, NP_001382262.1:p.Val1001Ile, XP_047293357.1:p.Val667Ile, XP_047293349.1:p.Val1027Ile, XP_047293354.1:p.Val1001Ile

                          13.

                          rs1487462709 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            18:8784790 (GRCh38)
                            18:8784788 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:8784789:T:C
                            Gene:
                            MTCL1 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000018.10:g.8784790T>C, NC_000018.9:g.8784788T>C, XM_011525640.4:c.2836T>C, XM_011525640.3:c.1819T>C, XM_011525640.2:c.2836T>C, XM_011525640.1:c.2836T>C, NM_015210.4:c.1678T>C, NM_015210.3:c.1678T>C, XM_017025674.3:c.1756T>C, XM_017025674.2:c.1756T>C, XM_017025674.1:c.1756T>C, XM_017025671.3:c.1909T>C, XM_017025671.2:c.1909T>C, XM_017025671.1:c.1909T>C, XM_024451115.2:c.2836T>C, XM_024451115.1:c.1819T>C, XM_024451110.2:c.2836T>C, XM_024451110.1:c.1819T>C, XM_024451111.2:c.2833T>C, XM_024451111.1:c.1816T>C, XM_024451112.2:c.2758T>C, XM_024451112.1:c.1741T>C, XM_024451113.2:c.2836T>C, XM_024451113.1:c.1819T>C, XM_024451114.2:c.2836T>C, XM_024451114.1:c.1819T>C, XM_024451117.2:c.2836T>C, XM_024451117.1:c.1819T>C, XM_024451118.2:c.2836T>C, XM_024451118.1:c.1819T>C, XM_017025672.2:c.1756T>C, XM_017025672.1:c.1756T>C, XM_017025673.2:c.1756T>C, XM_017025673.1:c.1756T>C, XM_024451122.2:c.1756T>C, XM_024451122.1:c.1756T>C, XM_024451123.2:c.1678T>C, XM_024451123.1:c.1678T>C, XM_024451124.2:c.2836T>C, XM_024451124.1:c.1819T>C, XR_002958167.2:n.2941T>C, XR_002958167.1:n.1977T>C, NM_001378206.1:c.2758T>C, NM_001395333.1:c.2758T>C, XM_047437394.1:c.2758T>C, XM_047437395.1:c.2836T>C, XM_047437396.1:c.2833T>C, NM_001378205.1:c.2758T>C, NM_001378207.1:c.2758T>C, XM_047437397.1:c.2836T>C, XM_047437399.1:c.2758T>C, XM_047437401.1:c.1756T>C, XM_047437393.1:c.2836T>C, XM_047437398.1:c.2758T>C, NM_001395220.1:c.1678T>C, XM_047437400.1:c.2758T>C, XR_007066128.1:n.2941T>C, XP_011523942.3:p.Ser946Pro, NP_056025.2:p.Ser560Pro, XP_016881163.1:p.Ser586Pro, XP_016881160.1:p.Ser637Pro, XP_024306883.2:p.Ser946Pro, XP_024306878.2:p.Ser946Pro, XP_024306879.2:p.Ser945Pro, XP_024306880.2:p.Ser920Pro, XP_024306881.2:p.Ser946Pro, XP_024306882.2:p.Ser946Pro, XP_024306885.2:p.Ser946Pro, XP_024306886.2:p.Ser946Pro, XP_016881161.1:p.Ser586Pro, XP_016881162.1:p.Ser586Pro, XP_024306890.1:p.Ser586Pro, XP_024306891.1:p.Ser560Pro, XP_024306892.2:p.Ser946Pro, NP_001365135.1:p.Ser920Pro, NP_001382262.1:p.Ser920Pro, XP_047293350.1:p.Ser920Pro, XP_047293351.1:p.Ser946Pro, XP_047293352.1:p.Ser945Pro, NP_001365134.1:p.Ser920Pro, NP_001365136.1:p.Ser920Pro, XP_047293353.1:p.Ser946Pro, XP_047293355.1:p.Ser920Pro, XP_047293357.1:p.Ser586Pro, XP_047293349.1:p.Ser946Pro, XP_047293354.1:p.Ser920Pro, NP_001382149.1:p.Ser560Pro, XP_047293356.1:p.Ser920Pro

                            14.

                            rs1486601130 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              18:8786088 (GRCh38)
                              18:8786086 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:8786087:G:C
                              Gene:
                              MTCL1 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0.00008/1 (ALFA)
                              HGVS:
                              NC_000018.10:g.8786088G>C, NC_000018.9:g.8786086G>C, XM_011525640.4:c.3042G>C, XM_011525640.3:c.2025G>C, XM_011525640.2:c.3042G>C, XM_011525640.1:c.3042G>C, NM_015210.4:c.1884G>C, NM_015210.3:c.1884G>C, XM_017025674.3:c.1962G>C, XM_017025674.2:c.1962G>C, XM_017025674.1:c.1962G>C, XM_017025671.3:c.2115G>C, XM_017025671.2:c.2115G>C, XM_017025671.1:c.2115G>C, XM_024451115.2:c.3042G>C, XM_024451115.1:c.2025G>C, XM_024451110.2:c.3042G>C, XM_024451110.1:c.2025G>C, XM_024451111.2:c.3039G>C, XM_024451111.1:c.2022G>C, XM_024451112.2:c.2964G>C, XM_024451112.1:c.1947G>C, XM_024451113.2:c.3042G>C, XM_024451113.1:c.2025G>C, XM_024451114.2:c.3042G>C, XM_024451114.1:c.2025G>C, XM_024451117.2:c.3042G>C, XM_024451117.1:c.2025G>C, XM_024451118.2:c.3042G>C, XM_024451118.1:c.2025G>C, XM_017025672.2:c.1962G>C, XM_017025672.1:c.1962G>C, XM_017025673.2:c.1962G>C, XM_017025673.1:c.1962G>C, XM_024451122.2:c.1962G>C, XM_024451122.1:c.1962G>C, XM_024451123.2:c.1884G>C, XM_024451123.1:c.1884G>C, XM_024451124.2:c.3042G>C, XM_024451124.1:c.2025G>C, XR_002958167.2:n.3147G>C, XR_002958167.1:n.2183G>C, NM_001378206.1:c.2964G>C, NM_001395333.1:c.2964G>C, XM_047437394.1:c.2964G>C, XM_047437395.1:c.3042G>C, XM_047437396.1:c.3039G>C, NM_001378205.1:c.2964G>C, NM_001378207.1:c.2964G>C, XM_047437397.1:c.3042G>C, XM_047437399.1:c.2964G>C, XM_047437401.1:c.1962G>C, XM_047437393.1:c.3042G>C, XM_047437398.1:c.2964G>C, NM_001395220.1:c.1884G>C, XM_047437400.1:c.2964G>C, XR_007066128.1:n.3147G>C

                              15.

                              rs1485056873 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                18:8831732 (GRCh38)
                                18:8831730 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:8831731:A:T
                                Gene:
                                MTCL1 (Varview)
                                Functional Consequence:
                                synonymous_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000007/1 (GnomAD_exomes)
                                HGVS:
                                NC_000018.10:g.8831732A>T, NC_000018.9:g.8831730A>T, XM_011525640.4:c.6036A>T, XM_011525640.3:c.5019A>T, XM_011525640.2:c.6036A>T, XM_011525640.1:c.6036A>T, NM_015210.4:c.*144A>T, NM_015210.3:c.*144A>T, XM_017025674.3:c.5040A>T, XM_017025674.2:c.5040A>T, XM_017025674.1:c.5040A>T, XM_017025671.3:c.5193A>T, XM_017025671.2:c.5193A>T, XM_017025671.1:c.5193A>T, XM_024451125.2:c.2952A>T, XM_024451125.1:c.2952A>T, XM_024451126.2:c.2952A>T, XM_024451126.1:c.2952A>T, XM_024451115.2:c.*104A>T, XM_024451115.1:c.*104A>T, XM_024451110.2:c.6120A>T, XM_024451110.1:c.5103A>T, XM_024451111.2:c.6117A>T, XM_024451111.1:c.5100A>T, XM_024451112.2:c.6042A>T, XM_024451112.1:c.5025A>T, XM_024451113.2:c.6006A>T, XM_024451113.1:c.4989A>T, XM_024451114.2:c.5997A>T, XM_024451114.1:c.4980A>T, XM_024451117.2:c.5922A>T, XM_024451117.1:c.4905A>T, XM_024451118.2:c.5883A>T, XM_024451118.1:c.4866A>T, XM_017025672.2:c.5040A>T, XM_017025672.1:c.5040A>T, XM_017025673.2:c.5040A>T, XM_017025673.1:c.5040A>T, XM_024451122.2:c.5040A>T, XM_024451122.1:c.5040A>T, XM_024451123.2:c.4839A>T, XM_024451123.1:c.4839A>T, NM_001378206.1:c.*144A>T, NM_001395333.1:c.5928A>T, XM_047437394.1:c.5919A>T, XM_047437395.1:c.5913A>T, XM_047437396.1:c.5880A>T, NM_001378205.1:c.*144A>T, NM_001378207.1:c.5805A>T, XM_047437397.1:c.5799A>T, XM_047437399.1:c.5721A>T, XM_047437401.1:c.5040A>T, NM_001395220.1:c.*144A>T

                                16.

                                rs1484220884 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  18:8825647 (GRCh38)
                                  18:8825645 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:8825646:C:A,NC_000018.10:8825646:C:T
                                  Gene:
                                  MTCL1 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000018.10:g.8825647C>A, NC_000018.10:g.8825647C>T, NC_000018.9:g.8825645C>A, NC_000018.9:g.8825645C>T, XM_011525640.4:c.5325C>A, XM_011525640.4:c.5325C>T, XM_011525640.3:c.4308C>A, XM_011525640.3:c.4308C>T, XM_011525640.2:c.5325C>A, XM_011525640.2:c.5325C>T, XM_011525640.1:c.5325C>A, XM_011525640.1:c.5325C>T, NM_015210.4:c.4137C>A, NM_015210.4:c.4137C>T, NM_015210.3:c.4137C>A, NM_015210.3:c.4137C>T, XM_017025674.3:c.4329C>A, XM_017025674.3:c.4329C>T, XM_017025674.2:c.4329C>A, XM_017025674.2:c.4329C>T, XM_017025674.1:c.4329C>A, XM_017025674.1:c.4329C>T, XM_017025671.3:c.4482C>A, XM_017025671.3:c.4482C>T, XM_017025671.2:c.4482C>A, XM_017025671.2:c.4482C>T, XM_017025671.1:c.4482C>A, XM_017025671.1:c.4482C>T, XM_024451125.2:c.2241C>A, XM_024451125.2:c.2241C>T, XM_024451125.1:c.2241C>A, XM_024451125.1:c.2241C>T, XM_024451126.2:c.2241C>A, XM_024451126.2:c.2241C>T, XM_024451126.1:c.2241C>A, XM_024451126.1:c.2241C>T, XM_024451115.2:c.5409C>A, XM_024451115.2:c.5409C>T, XM_024451115.1:c.4392C>A, XM_024451115.1:c.4392C>T, XM_024451110.2:c.5409C>A, XM_024451110.2:c.5409C>T, XM_024451110.1:c.4392C>A, XM_024451110.1:c.4392C>T, XM_024451111.2:c.5406C>A, XM_024451111.2:c.5406C>T, XM_024451111.1:c.4389C>A, XM_024451111.1:c.4389C>T, XM_024451112.2:c.5331C>A, XM_024451112.2:c.5331C>T, XM_024451112.1:c.4314C>A, XM_024451112.1:c.4314C>T, XM_024451113.2:c.5295C>A, XM_024451113.2:c.5295C>T, XM_024451113.1:c.4278C>A, XM_024451113.1:c.4278C>T, XM_024451114.2:c.5286C>A, XM_024451114.2:c.5286C>T, XM_024451114.1:c.4269C>A, XM_024451114.1:c.4269C>T, XM_024451117.2:c.5211C>A, XM_024451117.2:c.5211C>T, XM_024451117.1:c.4194C>A, XM_024451117.1:c.4194C>T, XM_024451118.2:c.5172C>A, XM_024451118.2:c.5172C>T, XM_024451118.1:c.4155C>A, XM_024451118.1:c.4155C>T, XM_017025672.2:c.4329C>A, XM_017025672.2:c.4329C>T, XM_017025672.1:c.4329C>A, XM_017025672.1:c.4329C>T, XM_017025673.2:c.4329C>A, XM_017025673.2:c.4329C>T, XM_017025673.1:c.4329C>A, XM_017025673.1:c.4329C>T, XM_024451122.2:c.4329C>A, XM_024451122.2:c.4329C>T, XM_024451122.1:c.4329C>A, XM_024451122.1:c.4329C>T, XM_024451123.2:c.4128C>A, XM_024451123.2:c.4128C>T, XM_024451123.1:c.4128C>A, XM_024451123.1:c.4128C>T, NM_001378206.1:c.5217C>A, NM_001378206.1:c.5217C>T, NM_001395333.1:c.5217C>A, NM_001395333.1:c.5217C>T, XM_047437394.1:c.5208C>A, XM_047437394.1:c.5208C>T, XM_047437395.1:c.5202C>A, XM_047437395.1:c.5202C>T, XM_047437396.1:c.5169C>A, XM_047437396.1:c.5169C>T, NM_001378205.1:c.5094C>A, NM_001378205.1:c.5094C>T, NM_001378207.1:c.5094C>A, NM_001378207.1:c.5094C>T, XM_047437397.1:c.5088C>A, XM_047437397.1:c.5088C>T, XM_047437399.1:c.5010C>A, XM_047437399.1:c.5010C>T, XM_047437401.1:c.4329C>A, XM_047437401.1:c.4329C>T, XM_047437393.1:c.5409C>A, XM_047437393.1:c.5409C>T, XM_047437398.1:c.5217C>A, XM_047437398.1:c.5217C>T, NM_001395220.1:c.4014C>A, NM_001395220.1:c.4014C>T, XM_047437400.1:c.5094C>A, XM_047437400.1:c.5094C>T

                                  17.

                                  rs1483882849 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    18:8785997 (GRCh38)
                                    18:8785995 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:8785996:G:A
                                    Gene:
                                    MTCL1 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000018.10:g.8785997G>A, NC_000018.9:g.8785995G>A, XM_011525640.4:c.2951G>A, XM_011525640.3:c.1934G>A, XM_011525640.2:c.2951G>A, XM_011525640.1:c.2951G>A, NM_015210.4:c.1793G>A, NM_015210.3:c.1793G>A, XM_017025674.3:c.1871G>A, XM_017025674.2:c.1871G>A, XM_017025674.1:c.1871G>A, XM_017025671.3:c.2024G>A, XM_017025671.2:c.2024G>A, XM_017025671.1:c.2024G>A, XM_024451115.2:c.2951G>A, XM_024451115.1:c.1934G>A, XM_024451110.2:c.2951G>A, XM_024451110.1:c.1934G>A, XM_024451111.2:c.2948G>A, XM_024451111.1:c.1931G>A, XM_024451112.2:c.2873G>A, XM_024451112.1:c.1856G>A, XM_024451113.2:c.2951G>A, XM_024451113.1:c.1934G>A, XM_024451114.2:c.2951G>A, XM_024451114.1:c.1934G>A, XM_024451117.2:c.2951G>A, XM_024451117.1:c.1934G>A, XM_024451118.2:c.2951G>A, XM_024451118.1:c.1934G>A, XM_017025672.2:c.1871G>A, XM_017025672.1:c.1871G>A, XM_017025673.2:c.1871G>A, XM_017025673.1:c.1871G>A, XM_024451122.2:c.1871G>A, XM_024451122.1:c.1871G>A, XM_024451123.2:c.1793G>A, XM_024451123.1:c.1793G>A, XM_024451124.2:c.2951G>A, XM_024451124.1:c.1934G>A, XR_002958167.2:n.3056G>A, XR_002958167.1:n.2092G>A, NM_001378206.1:c.2873G>A, NM_001395333.1:c.2873G>A, XM_047437394.1:c.2873G>A, XM_047437395.1:c.2951G>A, XM_047437396.1:c.2948G>A, NM_001378205.1:c.2873G>A, NM_001378207.1:c.2873G>A, XM_047437397.1:c.2951G>A, XM_047437399.1:c.2873G>A, XM_047437401.1:c.1871G>A, XM_047437393.1:c.2951G>A, XM_047437398.1:c.2873G>A, NM_001395220.1:c.1793G>A, XM_047437400.1:c.2873G>A, XR_007066128.1:n.3056G>A, XP_011523942.3:p.Ser984Asn, NP_056025.2:p.Ser598Asn, XP_016881163.1:p.Ser624Asn, XP_016881160.1:p.Ser675Asn, XP_024306883.2:p.Ser984Asn, XP_024306878.2:p.Ser984Asn, XP_024306879.2:p.Ser983Asn, XP_024306880.2:p.Ser958Asn, XP_024306881.2:p.Ser984Asn, XP_024306882.2:p.Ser984Asn, XP_024306885.2:p.Ser984Asn, XP_024306886.2:p.Ser984Asn, XP_016881161.1:p.Ser624Asn, XP_016881162.1:p.Ser624Asn, XP_024306890.1:p.Ser624Asn, XP_024306891.1:p.Ser598Asn, XP_024306892.2:p.Ser984Asn, NP_001365135.1:p.Ser958Asn, NP_001382262.1:p.Ser958Asn, XP_047293350.1:p.Ser958Asn, XP_047293351.1:p.Ser984Asn, XP_047293352.1:p.Ser983Asn, NP_001365134.1:p.Ser958Asn, NP_001365136.1:p.Ser958Asn, XP_047293353.1:p.Ser984Asn, XP_047293355.1:p.Ser958Asn, XP_047293357.1:p.Ser624Asn, XP_047293349.1:p.Ser984Asn, XP_047293354.1:p.Ser958Asn, NP_001382149.1:p.Ser598Asn, XP_047293356.1:p.Ser958Asn

                                    18.

                                    rs1483816850 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      18:8813108 (GRCh38)
                                      18:8813106 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:8813107:C:T
                                      Gene:
                                      MTCL1 (Varview)
                                      Functional Consequence:
                                      missense_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000018.10:g.8813108C>T, NC_000018.9:g.8813106C>T, XM_011525640.4:c.4006C>T, XM_011525640.3:c.2989C>T, XM_011525640.2:c.4006C>T, XM_011525640.1:c.4006C>T, NM_015210.4:c.2734C>T, NM_015210.3:c.2734C>T, XM_017025674.3:c.2926C>T, XM_017025674.2:c.2926C>T, XM_017025674.1:c.2926C>T, XM_017025671.3:c.3079C>T, XM_017025671.2:c.3079C>T, XM_017025671.1:c.3079C>T, XM_024451125.2:c.838C>T, XM_024451125.1:c.838C>T, XM_024451126.2:c.838C>T, XM_024451126.1:c.838C>T, XM_024451115.2:c.4006C>T, XM_024451115.1:c.2989C>T, XM_024451110.2:c.4006C>T, XM_024451110.1:c.2989C>T, XM_024451111.2:c.4003C>T, XM_024451111.1:c.2986C>T, XM_024451112.2:c.3928C>T, XM_024451112.1:c.2911C>T, XM_024451113.2:c.3892C>T, XM_024451113.1:c.2875C>T, XM_024451114.2:c.3883C>T, XM_024451114.1:c.2866C>T, XM_024451117.2:c.3892C>T, XM_024451117.1:c.2875C>T, XM_024451118.2:c.3769C>T, XM_024451118.1:c.2752C>T, XM_017025672.2:c.2926C>T, XM_017025672.1:c.2926C>T, XM_017025673.2:c.2926C>T, XM_017025673.1:c.2926C>T, XM_024451122.2:c.2926C>T, XM_024451122.1:c.2926C>T, XM_024451123.2:c.2725C>T, XM_024451123.1:c.2725C>T, XM_024451124.2:c.4006C>T, XM_024451124.1:c.2989C>T, NM_001378206.1:c.3814C>T, NM_001395333.1:c.3814C>T, XM_047437394.1:c.3805C>T, XM_047437395.1:c.3883C>T, XM_047437396.1:c.3766C>T, NM_001378205.1:c.3691C>T, NM_001378207.1:c.3691C>T, XM_047437397.1:c.3769C>T, XM_047437399.1:c.3691C>T, XM_047437401.1:c.2926C>T, XM_047437393.1:c.4006C>T, XM_047437398.1:c.3814C>T, NM_001395220.1:c.2611C>T, XM_047437400.1:c.3691C>T, XP_011523942.3:p.Arg1336Cys, NP_056025.2:p.Arg912Cys, XP_016881163.1:p.Arg976Cys, XP_016881160.1:p.Arg1027Cys, XP_024306893.1:p.Arg280Cys, XP_024306894.1:p.Arg280Cys, XP_024306883.2:p.Arg1336Cys, XP_024306878.2:p.Arg1336Cys, XP_024306879.2:p.Arg1335Cys, XP_024306880.2:p.Arg1310Cys, XP_024306881.2:p.Arg1298Cys, XP_024306882.2:p.Arg1295Cys, XP_024306885.2:p.Arg1298Cys, XP_024306886.2:p.Arg1257Cys, XP_016881161.1:p.Arg976Cys, XP_016881162.1:p.Arg976Cys, XP_024306890.1:p.Arg976Cys, XP_024306891.1:p.Arg909Cys, XP_024306892.2:p.Arg1336Cys, NP_001365135.1:p.Arg1272Cys, NP_001382262.1:p.Arg1272Cys, XP_047293350.1:p.Arg1269Cys, XP_047293351.1:p.Arg1295Cys, XP_047293352.1:p.Arg1256Cys, NP_001365134.1:p.Arg1231Cys, NP_001365136.1:p.Arg1231Cys, XP_047293353.1:p.Arg1257Cys, XP_047293355.1:p.Arg1231Cys, XP_047293357.1:p.Arg976Cys, XP_047293349.1:p.Arg1336Cys, XP_047293354.1:p.Arg1272Cys, NP_001382149.1:p.Arg871Cys, XP_047293356.1:p.Arg1231Cys

                                      19.

                                      rs1482196110 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        18:8825574 (GRCh38)
                                        18:8825572 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:8825573:C:G
                                        Gene:
                                        MTCL1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000018.10:g.8825574C>G, NC_000018.9:g.8825572C>G, XM_011525640.4:c.5252C>G, XM_011525640.3:c.4235C>G, XM_011525640.2:c.5252C>G, XM_011525640.1:c.5252C>G, NM_015210.4:c.4064C>G, NM_015210.3:c.4064C>G, XM_017025674.3:c.4256C>G, XM_017025674.2:c.4256C>G, XM_017025674.1:c.4256C>G, XM_017025671.3:c.4409C>G, XM_017025671.2:c.4409C>G, XM_017025671.1:c.4409C>G, XM_024451125.2:c.2168C>G, XM_024451125.1:c.2168C>G, XM_024451126.2:c.2168C>G, XM_024451126.1:c.2168C>G, XM_024451115.2:c.5336C>G, XM_024451115.1:c.4319C>G, XM_024451110.2:c.5336C>G, XM_024451110.1:c.4319C>G, XM_024451111.2:c.5333C>G, XM_024451111.1:c.4316C>G, XM_024451112.2:c.5258C>G, XM_024451112.1:c.4241C>G, XM_024451113.2:c.5222C>G, XM_024451113.1:c.4205C>G, XM_024451114.2:c.5213C>G, XM_024451114.1:c.4196C>G, XM_024451117.2:c.5138C>G, XM_024451117.1:c.4121C>G, XM_024451118.2:c.5099C>G, XM_024451118.1:c.4082C>G, XM_017025672.2:c.4256C>G, XM_017025672.1:c.4256C>G, XM_017025673.2:c.4256C>G, XM_017025673.1:c.4256C>G, XM_024451122.2:c.4256C>G, XM_024451122.1:c.4256C>G, XM_024451123.2:c.4055C>G, XM_024451123.1:c.4055C>G, NM_001378206.1:c.5144C>G, NM_001395333.1:c.5144C>G, XM_047437394.1:c.5135C>G, XM_047437395.1:c.5129C>G, XM_047437396.1:c.5096C>G, NM_001378205.1:c.5021C>G, NM_001378207.1:c.5021C>G, XM_047437397.1:c.5015C>G, XM_047437399.1:c.4937C>G, XM_047437401.1:c.4256C>G, XM_047437393.1:c.5336C>G, XM_047437398.1:c.5144C>G, NM_001395220.1:c.3941C>G, XM_047437400.1:c.5021C>G, XP_011523942.3:p.Ala1751Gly, NP_056025.2:p.Ala1355Gly, XP_016881163.1:p.Ala1419Gly, XP_016881160.1:p.Ala1470Gly, XP_024306893.1:p.Ala723Gly, XP_024306894.1:p.Ala723Gly, XP_024306883.2:p.Ala1779Gly, XP_024306878.2:p.Ala1779Gly, XP_024306879.2:p.Ala1778Gly, XP_024306880.2:p.Ala1753Gly, XP_024306881.2:p.Ala1741Gly, XP_024306882.2:p.Ala1738Gly, XP_024306885.2:p.Ala1713Gly, XP_024306886.2:p.Ala1700Gly, XP_016881161.1:p.Ala1419Gly, XP_016881162.1:p.Ala1419Gly, XP_024306890.1:p.Ala1419Gly, XP_024306891.1:p.Ala1352Gly, NP_001365135.1:p.Ala1715Gly, NP_001382262.1:p.Ala1715Gly, XP_047293350.1:p.Ala1712Gly, XP_047293351.1:p.Ala1710Gly, XP_047293352.1:p.Ala1699Gly, NP_001365134.1:p.Ala1674Gly, NP_001365136.1:p.Ala1674Gly, XP_047293353.1:p.Ala1672Gly, XP_047293355.1:p.Ala1646Gly, XP_047293357.1:p.Ala1419Gly, XP_047293349.1:p.Ala1779Gly, XP_047293354.1:p.Ala1715Gly, NP_001382149.1:p.Ala1314Gly, XP_047293356.1:p.Ala1674Gly

                                        20.

                                        rs1480947027 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          18:8783532 (GRCh38)
                                          18:8783530 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:8783531:T:C
                                          Gene:
                                          MTCL1 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000018.10:g.8783532T>C, NC_000018.9:g.8783530T>C, XM_011525640.4:c.1578T>C, XM_011525640.3:c.561T>C, XM_011525640.2:c.1578T>C, XM_011525640.1:c.1578T>C, NM_015210.4:c.420T>C, NM_015210.3:c.420T>C, XM_017025674.3:c.498T>C, XM_017025674.2:c.498T>C, XM_017025674.1:c.498T>C, XM_017025671.3:c.651T>C, XM_017025671.2:c.651T>C, XM_017025671.1:c.651T>C, XM_024451115.2:c.1578T>C, XM_024451115.1:c.561T>C, XM_024451110.2:c.1578T>C, XM_024451110.1:c.561T>C, XM_024451111.2:c.1575T>C, XM_024451111.1:c.558T>C, XM_024451112.2:c.1500T>C, XM_024451112.1:c.483T>C, XM_024451113.2:c.1578T>C, XM_024451113.1:c.561T>C, XM_024451114.2:c.1578T>C, XM_024451114.1:c.561T>C, XM_024451117.2:c.1578T>C, XM_024451117.1:c.561T>C, XM_024451118.2:c.1578T>C, XM_024451118.1:c.561T>C, XM_017025672.2:c.498T>C, XM_017025672.1:c.498T>C, XM_017025673.2:c.498T>C, XM_017025673.1:c.498T>C, XM_024451122.2:c.498T>C, XM_024451122.1:c.498T>C, XM_024451123.2:c.420T>C, XM_024451123.1:c.420T>C, XM_024451124.2:c.1578T>C, XM_024451124.1:c.561T>C, XR_002958167.2:n.1683T>C, XR_002958167.1:n.719T>C, NM_001378206.1:c.1500T>C, NM_001395333.1:c.1500T>C, XM_047437394.1:c.1500T>C, XM_047437395.1:c.1578T>C, XM_047437396.1:c.1575T>C, NM_001378205.1:c.1500T>C, NM_001378207.1:c.1500T>C, XM_047437397.1:c.1578T>C, XM_047437399.1:c.1500T>C, XM_047437401.1:c.498T>C, XM_047437393.1:c.1578T>C, XM_047437398.1:c.1500T>C, NM_001395220.1:c.420T>C, XM_047437400.1:c.1500T>C, XR_007066128.1:n.1683T>C

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