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Items: 1 to 20 of 570

1.

rs1490590217 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    1:150823300 (GRCh38)
    1:150795776 (GRCh37)
    Canonical SPDI:
    NC_000001.11:150823299:G:A
    Gene:
    ARNT (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000001.11:g.150823300G>A, NC_000001.10:g.150795776G>A, NG_028248.1:g.58469C>T, NM_001668.4:c.1288C>T, NM_001668.3:c.1288C>T, NM_178427.3:c.1243C>T, NM_178427.2:c.1243C>T, NM_001286035.2:c.1246C>T, NM_001286035.1:c.1246C>T, NM_001350224.2:c.1261C>T, NM_001350224.1:c.1261C>T, NM_001350225.2:c.1285C>T, NM_001350225.1:c.1285C>T, NM_001350226.2:c.1282C>T, NM_001350226.1:c.1282C>T, NM_001286036.2:c.1288C>T, NM_001286036.1:c.1288C>T, NM_001197325.2:c.1243C>T, NM_001197325.1:c.1243C>T, XM_011509543.4:c.1285C>T, XM_011509543.3:c.1285C>T, XM_011509543.2:c.1285C>T, XM_011509543.1:c.1285C>T, XM_017001288.3:c.1261C>T, XM_017001288.2:c.1261C>T, XM_017001288.1:c.1261C>T, XM_005245151.3:c.1288C>T, XM_005245151.2:c.1288C>T, XM_005245151.1:c.1288C>T, XM_017001290.3:c.1216C>T, XM_017001290.2:c.1216C>T, XM_017001290.1:c.1216C>T, XM_011509546.3:c.1192C>T, XM_011509546.2:c.1192C>T, XM_011509546.1:c.1192C>T, XM_017001289.2:c.1246C>T, XM_017001289.1:c.1246C>T, XM_017001291.2:c.1216C>T, XM_017001291.1:c.1216C>T, XM_005245153.2:c.1273C>T, XM_005245153.1:c.1273C>T, XM_017001292.2:c.1261C>T, XM_017001292.1:c.1261C>T, XM_005245157.2:c.1288C>T, XM_005245157.1:c.1288C>T, XM_017001294.2:c.1288C>T, XM_017001294.1:c.1288C>T, XM_017001293.2:c.1216C>T, XM_017001293.1:c.1216C>T, XM_017001295.2:c.1273C>T, XM_017001295.1:c.1273C>T, XM_017001296.2:c.1243C>T, XM_017001296.1:c.1243C>T, XM_047420709.1:c.1282C>T, XM_047420712.1:c.1240C>T, XM_047420743.1:c.1240C>T, XM_047420713.1:c.1237C>T, XM_047420692.1:c.1246C>T, XM_047420711.1:c.1273C>T, XM_047420694.1:c.1201C>T, XM_047420697.1:c.1201C>T, XM_047420715.1:c.1228C>T, XM_047420716.1:c.1228C>T, XM_047420700.1:c.1261C>T, XM_047420701.1:c.1216C>T, XM_047420719.1:c.1273C>T, XM_047420727.1:c.1243C>T, XM_047420734.1:c.1228C>T, XM_047420740.1:c.1228C>T, NP_001659.1:p.Arg430Trp, NP_848514.1:p.Arg415Trp, NP_001272964.1:p.Arg416Trp, NP_001337153.1:p.Arg421Trp, NP_001337154.1:p.Arg429Trp, NP_001337155.1:p.Arg428Trp, NP_001272965.1:p.Arg430Trp, NP_001184254.1:p.Arg415Trp, XP_011507845.1:p.Arg429Trp, XP_016856777.1:p.Arg421Trp, XP_005245208.1:p.Arg430Trp, XP_016856779.1:p.Arg406Trp, XP_011507848.1:p.Arg398Trp, XP_016856778.1:p.Arg416Trp, XP_016856780.1:p.Arg406Trp, XP_005245210.1:p.Arg425Trp, XP_016856781.1:p.Arg421Trp, XP_005245214.1:p.Arg430Trp, XP_016856783.1:p.Arg430Trp, XP_016856782.1:p.Arg406Trp, XP_016856784.1:p.Arg425Trp, XP_016856785.1:p.Arg415Trp, XP_047276665.1:p.Arg428Trp, XP_047276668.1:p.Arg414Trp, XP_047276699.1:p.Arg414Trp, XP_047276669.1:p.Arg413Trp, XP_047276648.1:p.Arg416Trp, XP_047276667.1:p.Arg425Trp, XP_047276650.1:p.Arg401Trp, XP_047276653.1:p.Arg401Trp, XP_047276671.1:p.Arg410Trp, XP_047276672.1:p.Arg410Trp, XP_047276656.1:p.Arg421Trp, XP_047276657.1:p.Arg406Trp, XP_047276675.1:p.Arg425Trp, XP_047276683.1:p.Arg415Trp, XP_047276690.1:p.Arg410Trp, XP_047276696.1:p.Arg410Trp

    2.

    rs1490240303 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      1:150839622 (GRCh38)
      1:150812098 (GRCh37)
      Canonical SPDI:
      NC_000001.11:150839621:C:T
      Gene:
      ARNT (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000004/1 (TOPMED)
      HGVS:
      NC_000001.11:g.150839622C>T, NC_000001.10:g.150812098C>T, NG_028248.1:g.42147G>A, NM_001668.4:c.305G>A, NM_001668.3:c.305G>A, NM_178427.3:c.260G>A, NM_178427.2:c.260G>A, NM_001286035.2:c.278G>A, NM_001286035.1:c.278G>A, NM_001350224.2:c.278G>A, NM_001350224.1:c.278G>A, NM_001350225.2:c.302G>A, NM_001350225.1:c.302G>A, NM_001350226.2:c.299G>A, NM_001350226.1:c.299G>A, NM_001286036.2:c.305G>A, NM_001286036.1:c.305G>A, NM_001197325.2:c.260G>A, NM_001197325.1:c.260G>A, XM_011509543.4:c.302G>A, XM_011509543.3:c.302G>A, XM_011509543.2:c.302G>A, XM_011509543.1:c.302G>A, XM_017001288.3:c.278G>A, XM_017001288.2:c.278G>A, XM_017001288.1:c.278G>A, XM_005245151.3:c.305G>A, XM_005245151.2:c.305G>A, XM_005245151.1:c.305G>A, XM_017001290.3:c.233G>A, XM_017001290.2:c.233G>A, XM_017001290.1:c.233G>A, XM_011509546.3:c.209G>A, XM_011509546.2:c.209G>A, XM_011509546.1:c.209G>A, XM_017001289.2:c.278G>A, XM_017001289.1:c.278G>A, XM_017001291.2:c.233G>A, XM_017001291.1:c.233G>A, XM_005245153.2:c.305G>A, XM_005245153.1:c.305G>A, XM_017001292.2:c.278G>A, XM_017001292.1:c.278G>A, XM_005245157.2:c.305G>A, XM_005245157.1:c.305G>A, XM_017001294.2:c.305G>A, XM_017001294.1:c.305G>A, XM_017001293.2:c.233G>A, XM_017001293.1:c.233G>A, XM_017001295.2:c.305G>A, XM_017001295.1:c.305G>A, XM_017001296.2:c.260G>A, XM_017001296.1:c.260G>A, XM_047420709.1:c.299G>A, XM_047420712.1:c.257G>A, XM_047420743.1:c.257G>A, XM_047420713.1:c.254G>A, XM_047420692.1:c.278G>A, XM_047420711.1:c.305G>A, XM_047420694.1:c.233G>A, XM_047420697.1:c.233G>A, XM_047420715.1:c.260G>A, XM_047420716.1:c.260G>A, XM_047420700.1:c.278G>A, XM_047420701.1:c.233G>A, XM_047420719.1:c.305G>A, XM_047420727.1:c.260G>A, XM_047420734.1:c.260G>A, XM_047420740.1:c.260G>A, NM_178426.1:c.305G>A, NP_001659.1:p.Arg102Gln, NP_848514.1:p.Arg87Gln, NP_001272964.1:p.Arg93Gln, NP_001337153.1:p.Arg93Gln, NP_001337154.1:p.Arg101Gln, NP_001337155.1:p.Arg100Gln, NP_001272965.1:p.Arg102Gln, NP_001184254.1:p.Arg87Gln, XP_011507845.1:p.Arg101Gln, XP_016856777.1:p.Arg93Gln, XP_005245208.1:p.Arg102Gln, XP_016856779.1:p.Arg78Gln, XP_011507848.1:p.Arg70Gln, XP_016856778.1:p.Arg93Gln, XP_016856780.1:p.Arg78Gln, XP_005245210.1:p.Arg102Gln, XP_016856781.1:p.Arg93Gln, XP_005245214.1:p.Arg102Gln, XP_016856783.1:p.Arg102Gln, XP_016856782.1:p.Arg78Gln, XP_016856784.1:p.Arg102Gln, XP_016856785.1:p.Arg87Gln, XP_047276665.1:p.Arg100Gln, XP_047276668.1:p.Arg86Gln, XP_047276699.1:p.Arg86Gln, XP_047276669.1:p.Arg85Gln, XP_047276648.1:p.Arg93Gln, XP_047276667.1:p.Arg102Gln, XP_047276650.1:p.Arg78Gln, XP_047276653.1:p.Arg78Gln, XP_047276671.1:p.Arg87Gln, XP_047276672.1:p.Arg87Gln, XP_047276656.1:p.Arg93Gln, XP_047276657.1:p.Arg78Gln, XP_047276675.1:p.Arg102Gln, XP_047276683.1:p.Arg87Gln, XP_047276690.1:p.Arg87Gln, XP_047276696.1:p.Arg87Gln

      3.

      rs1489707596 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        1:150836337 (GRCh38)
        1:150808813 (GRCh37)
        Canonical SPDI:
        NC_000001.11:150836336:G:A
        Gene:
        ARNT (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000001.11:g.150836337G>A, NC_000001.10:g.150808813G>A, NG_028248.1:g.45432C>T, NM_001668.4:c.643C>T, NM_001668.3:c.643C>T, NM_178427.3:c.598C>T, NM_178427.2:c.598C>T, NM_001286035.2:c.616C>T, NM_001286035.1:c.616C>T, NM_001350224.2:c.616C>T, NM_001350224.1:c.616C>T, NM_001350225.2:c.640C>T, NM_001350225.1:c.640C>T, NM_001350226.2:c.637C>T, NM_001350226.1:c.637C>T, NM_001286036.2:c.643C>T, NM_001286036.1:c.643C>T, NM_001197325.2:c.598C>T, NM_001197325.1:c.598C>T, XM_011509543.4:c.640C>T, XM_011509543.3:c.640C>T, XM_011509543.2:c.640C>T, XM_011509543.1:c.640C>T, XM_017001288.3:c.616C>T, XM_017001288.2:c.616C>T, XM_017001288.1:c.616C>T, XM_005245151.3:c.643C>T, XM_005245151.2:c.643C>T, XM_005245151.1:c.643C>T, XM_017001290.3:c.571C>T, XM_017001290.2:c.571C>T, XM_017001290.1:c.571C>T, XM_011509546.3:c.547C>T, XM_011509546.2:c.547C>T, XM_011509546.1:c.547C>T, XM_017001289.2:c.616C>T, XM_017001289.1:c.616C>T, XM_017001291.2:c.571C>T, XM_017001291.1:c.571C>T, XM_005245153.2:c.643C>T, XM_005245153.1:c.643C>T, XM_017001292.2:c.616C>T, XM_017001292.1:c.616C>T, XM_005245157.2:c.643C>T, XM_005245157.1:c.643C>T, XM_017001294.2:c.643C>T, XM_017001294.1:c.643C>T, XM_017001293.2:c.571C>T, XM_017001293.1:c.571C>T, XM_017001295.2:c.643C>T, XM_017001295.1:c.643C>T, XM_017001296.2:c.598C>T, XM_017001296.1:c.598C>T, XM_047420709.1:c.637C>T, XM_047420712.1:c.595C>T, XM_047420743.1:c.595C>T, XM_047420713.1:c.592C>T, XM_047420692.1:c.616C>T, XM_047420711.1:c.643C>T, XM_047420694.1:c.571C>T, XM_047420697.1:c.571C>T, XM_047420715.1:c.598C>T, XM_047420716.1:c.598C>T, XM_047420700.1:c.616C>T, XM_047420701.1:c.571C>T, XM_047420719.1:c.643C>T, XM_047420727.1:c.598C>T, XM_047420734.1:c.598C>T, XM_047420740.1:c.598C>T, NM_178426.1:c.643C>T, NP_001659.1:p.Pro215Ser, NP_848514.1:p.Pro200Ser, NP_001272964.1:p.Pro206Ser, NP_001337153.1:p.Pro206Ser, NP_001337154.1:p.Pro214Ser, NP_001337155.1:p.Pro213Ser, NP_001272965.1:p.Pro215Ser, NP_001184254.1:p.Pro200Ser, XP_011507845.1:p.Pro214Ser, XP_016856777.1:p.Pro206Ser, XP_005245208.1:p.Pro215Ser, XP_016856779.1:p.Pro191Ser, XP_011507848.1:p.Pro183Ser, XP_016856778.1:p.Pro206Ser, XP_016856780.1:p.Pro191Ser, XP_005245210.1:p.Pro215Ser, XP_016856781.1:p.Pro206Ser, XP_005245214.1:p.Pro215Ser, XP_016856783.1:p.Pro215Ser, XP_016856782.1:p.Pro191Ser, XP_016856784.1:p.Pro215Ser, XP_016856785.1:p.Pro200Ser, XP_047276665.1:p.Pro213Ser, XP_047276668.1:p.Pro199Ser, XP_047276699.1:p.Pro199Ser, XP_047276669.1:p.Pro198Ser, XP_047276648.1:p.Pro206Ser, XP_047276667.1:p.Pro215Ser, XP_047276650.1:p.Pro191Ser, XP_047276653.1:p.Pro191Ser, XP_047276671.1:p.Pro200Ser, XP_047276672.1:p.Pro200Ser, XP_047276656.1:p.Pro206Ser, XP_047276657.1:p.Pro191Ser, XP_047276675.1:p.Pro215Ser, XP_047276683.1:p.Pro200Ser, XP_047276690.1:p.Pro200Ser, XP_047276696.1:p.Pro200Ser

        4.

        rs1488500922 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:150812104 (GRCh38)
          1:150784580 (GRCh37)
          Canonical SPDI:
          NC_000001.11:150812103:G:A
          Gene:
          ARNT (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by cluster
          MAF:
          G=0.5/1 (SGDP_PRJ)
          HGVS:
          NC_000001.11:g.150812104G>A, NC_000001.10:g.150784580G>A, NG_028248.1:g.69665C>T, NM_001668.4:c.2287C>T, NM_001668.3:c.2287C>T, NM_178427.3:c.2242C>T, NM_178427.2:c.2242C>T, NM_001286035.2:c.2245C>T, NM_001286035.1:c.2245C>T, NM_001350224.2:c.2260C>T, NM_001350224.1:c.2260C>T, NM_001350225.2:c.2284C>T, NM_001350225.1:c.2284C>T, NM_001350226.2:c.2281C>T, NM_001350226.1:c.2281C>T, NM_001286036.2:c.2281C>T, NM_001286036.1:c.2281C>T, NM_001197325.2:c.2239C>T, NM_001197325.1:c.2239C>T, NG_011848.1:g.1233C>T, XM_011509543.4:c.2284C>T, XM_011509543.3:c.2284C>T, XM_011509543.2:c.2284C>T, XM_011509543.1:c.2284C>T, XM_017001288.3:c.2257C>T, XM_017001288.2:c.2257C>T, XM_017001288.1:c.2257C>T, XM_005245151.3:c.2284C>T, XM_005245151.2:c.2284C>T, XM_005245151.1:c.2284C>T, XM_017001290.3:c.2215C>T, XM_017001290.2:c.2215C>T, XM_017001290.1:c.2215C>T, XM_011509546.3:c.2191C>T, XM_011509546.2:c.2191C>T, XM_011509546.1:c.2191C>T, XM_017001289.2:c.2245C>T, XM_017001289.1:c.2245C>T, XM_017001291.2:c.2212C>T, XM_017001291.1:c.2212C>T, XM_005245153.2:c.2272C>T, XM_005245153.1:c.2272C>T, XM_017001292.2:c.2149C>T, XM_017001292.1:c.2149C>T, XM_005245157.2:c.2176C>T, XM_005245157.1:c.2176C>T, XM_017001294.2:c.2173C>T, XM_017001294.1:c.2173C>T, XM_017001293.2:c.2101C>T, XM_017001293.1:c.2101C>T, XM_017001295.2:c.2161C>T, XM_017001295.1:c.2161C>T, XM_017001296.2:c.2131C>T, XM_017001296.1:c.2131C>T, XM_047420709.1:c.2281C>T, XM_047420712.1:c.2239C>T, XM_047420743.1:c.2236C>T, XM_047420713.1:c.2233C>T, XM_047420692.1:c.2242C>T, XM_047420711.1:c.2269C>T, XM_047420694.1:c.2200C>T, XM_047420697.1:c.2197C>T, XM_047420715.1:c.2227C>T, XM_047420716.1:c.2224C>T, XM_047420700.1:c.2146C>T, XM_047420701.1:c.2104C>T, XM_047420719.1:c.2158C>T, XM_047420727.1:c.2128C>T, XM_047420734.1:c.2116C>T, XM_047420740.1:c.2113C>T, NM_178426.1:c.*17C>T

          5.

          rs1487069462 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            1:150814096 (GRCh38)
            1:150786572 (GRCh37)
            Canonical SPDI:
            NC_000001.11:150814095:G:T
            Gene:
            ARNT (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            HGVS:
            NC_000001.11:g.150814096G>T, NC_000001.10:g.150786572G>T, NG_028248.1:g.67673C>A, NM_001668.4:c.2094C>A, NM_001668.3:c.2094C>A, NM_178427.3:c.2049C>A, NM_178427.2:c.2049C>A, NM_001286035.2:c.2052C>A, NM_001286035.1:c.2052C>A, NM_001350224.2:c.2067C>A, NM_001350224.1:c.2067C>A, NM_001350225.2:c.2091C>A, NM_001350225.1:c.2091C>A, NM_001350226.2:c.2088C>A, NM_001350226.1:c.2088C>A, NM_001286036.2:c.2088C>A, NM_001286036.1:c.2088C>A, NM_001197325.2:c.2046C>A, NM_001197325.1:c.2046C>A, XM_011509543.4:c.2091C>A, XM_011509543.3:c.2091C>A, XM_011509543.2:c.2091C>A, XM_011509543.1:c.2091C>A, XM_017001288.3:c.2064C>A, XM_017001288.2:c.2064C>A, XM_017001288.1:c.2064C>A, XM_005245151.3:c.2091C>A, XM_005245151.2:c.2091C>A, XM_005245151.1:c.2091C>A, XM_017001290.3:c.2022C>A, XM_017001290.2:c.2022C>A, XM_017001290.1:c.2022C>A, XM_011509546.3:c.1998C>A, XM_011509546.2:c.1998C>A, XM_011509546.1:c.1998C>A, XM_017001289.2:c.2052C>A, XM_017001289.1:c.2052C>A, XM_017001291.2:c.2019C>A, XM_017001291.1:c.2019C>A, XM_005245153.2:c.2079C>A, XM_005245153.1:c.2079C>A, XM_017001292.2:c.1956C>A, XM_017001292.1:c.1956C>A, XM_005245157.2:c.1983C>A, XM_005245157.1:c.1983C>A, XM_017001294.2:c.1980C>A, XM_017001294.1:c.1980C>A, XM_017001293.2:c.1908C>A, XM_017001293.1:c.1908C>A, XM_017001295.2:c.1968C>A, XM_017001295.1:c.1968C>A, XM_017001296.2:c.1938C>A, XM_017001296.1:c.1938C>A, XM_047420709.1:c.2088C>A, XM_047420712.1:c.2046C>A, XM_047420743.1:c.2043C>A, XM_047420713.1:c.2040C>A, XM_047420692.1:c.2049C>A, XM_047420711.1:c.2076C>A, XM_047420694.1:c.2007C>A, XM_047420697.1:c.2004C>A, XM_047420715.1:c.2034C>A, XM_047420716.1:c.2031C>A, XM_047420700.1:c.1953C>A, XM_047420701.1:c.1911C>A, XM_047420719.1:c.1965C>A, XM_047420727.1:c.1935C>A, XM_047420734.1:c.1923C>A, XM_047420740.1:c.1920C>A

            6.

            rs1484842754 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C,G [Show Flanks]
              Chromosome:
              1:150814114 (GRCh38)
              1:150786590 (GRCh37)
              Canonical SPDI:
              NC_000001.11:150814113:A:C,NC_000001.11:150814113:A:G
              Gene:
              ARNT (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.150814114A>C, NC_000001.11:g.150814114A>G, NC_000001.10:g.150786590A>C, NC_000001.10:g.150786590A>G, NG_028248.1:g.67655T>G, NG_028248.1:g.67655T>C, NM_001668.4:c.2076T>G, NM_001668.4:c.2076T>C, NM_001668.3:c.2076T>G, NM_001668.3:c.2076T>C, NM_178427.3:c.2031T>G, NM_178427.3:c.2031T>C, NM_178427.2:c.2031T>G, NM_178427.2:c.2031T>C, NM_001286035.2:c.2034T>G, NM_001286035.2:c.2034T>C, NM_001286035.1:c.2034T>G, NM_001286035.1:c.2034T>C, NM_001350224.2:c.2049T>G, NM_001350224.2:c.2049T>C, NM_001350224.1:c.2049T>G, NM_001350224.1:c.2049T>C, NM_001350225.2:c.2073T>G, NM_001350225.2:c.2073T>C, NM_001350225.1:c.2073T>G, NM_001350225.1:c.2073T>C, NM_001350226.2:c.2070T>G, NM_001350226.2:c.2070T>C, NM_001350226.1:c.2070T>G, NM_001350226.1:c.2070T>C, NM_001286036.2:c.2070T>G, NM_001286036.2:c.2070T>C, NM_001286036.1:c.2070T>G, NM_001286036.1:c.2070T>C, NM_001197325.2:c.2028T>G, NM_001197325.2:c.2028T>C, NM_001197325.1:c.2028T>G, NM_001197325.1:c.2028T>C, XM_011509543.4:c.2073T>G, XM_011509543.4:c.2073T>C, XM_011509543.3:c.2073T>G, XM_011509543.3:c.2073T>C, XM_011509543.2:c.2073T>G, XM_011509543.2:c.2073T>C, XM_011509543.1:c.2073T>G, XM_011509543.1:c.2073T>C, XM_017001288.3:c.2046T>G, XM_017001288.3:c.2046T>C, XM_017001288.2:c.2046T>G, XM_017001288.2:c.2046T>C, XM_017001288.1:c.2046T>G, XM_017001288.1:c.2046T>C, XM_005245151.3:c.2073T>G, XM_005245151.3:c.2073T>C, XM_005245151.2:c.2073T>G, XM_005245151.2:c.2073T>C, XM_005245151.1:c.2073T>G, XM_005245151.1:c.2073T>C, XM_017001290.3:c.2004T>G, XM_017001290.3:c.2004T>C, XM_017001290.2:c.2004T>G, XM_017001290.2:c.2004T>C, XM_017001290.1:c.2004T>G, XM_017001290.1:c.2004T>C, XM_011509546.3:c.1980T>G, XM_011509546.3:c.1980T>C, XM_011509546.2:c.1980T>G, XM_011509546.2:c.1980T>C, XM_011509546.1:c.1980T>G, XM_011509546.1:c.1980T>C, XM_017001289.2:c.2034T>G, XM_017001289.2:c.2034T>C, XM_017001289.1:c.2034T>G, XM_017001289.1:c.2034T>C, XM_017001291.2:c.2001T>G, XM_017001291.2:c.2001T>C, XM_017001291.1:c.2001T>G, XM_017001291.1:c.2001T>C, XM_005245153.2:c.2061T>G, XM_005245153.2:c.2061T>C, XM_005245153.1:c.2061T>G, XM_005245153.1:c.2061T>C, XM_017001292.2:c.1938T>G, XM_017001292.2:c.1938T>C, XM_017001292.1:c.1938T>G, XM_017001292.1:c.1938T>C, XM_005245157.2:c.1965T>G, XM_005245157.2:c.1965T>C, XM_005245157.1:c.1965T>G, XM_005245157.1:c.1965T>C, XM_017001294.2:c.1962T>G, XM_017001294.2:c.1962T>C, XM_017001294.1:c.1962T>G, XM_017001294.1:c.1962T>C, XM_017001293.2:c.1890T>G, XM_017001293.2:c.1890T>C, XM_017001293.1:c.1890T>G, XM_017001293.1:c.1890T>C, XM_017001295.2:c.1950T>G, XM_017001295.2:c.1950T>C, XM_017001295.1:c.1950T>G, XM_017001295.1:c.1950T>C, XM_017001296.2:c.1920T>G, XM_017001296.2:c.1920T>C, XM_017001296.1:c.1920T>G, XM_017001296.1:c.1920T>C, XM_047420709.1:c.2070T>G, XM_047420709.1:c.2070T>C, XM_047420712.1:c.2028T>G, XM_047420712.1:c.2028T>C, XM_047420743.1:c.2025T>G, XM_047420743.1:c.2025T>C, XM_047420713.1:c.2022T>G, XM_047420713.1:c.2022T>C, XM_047420692.1:c.2031T>G, XM_047420692.1:c.2031T>C, XM_047420711.1:c.2058T>G, XM_047420711.1:c.2058T>C, XM_047420694.1:c.1989T>G, XM_047420694.1:c.1989T>C, XM_047420697.1:c.1986T>G, XM_047420697.1:c.1986T>C, XM_047420715.1:c.2016T>G, XM_047420715.1:c.2016T>C, XM_047420716.1:c.2013T>G, XM_047420716.1:c.2013T>C, XM_047420700.1:c.1935T>G, XM_047420700.1:c.1935T>C, XM_047420701.1:c.1893T>G, XM_047420701.1:c.1893T>C, XM_047420719.1:c.1947T>G, XM_047420719.1:c.1947T>C, XM_047420727.1:c.1917T>G, XM_047420727.1:c.1917T>C, XM_047420734.1:c.1905T>G, XM_047420734.1:c.1905T>C, XM_047420740.1:c.1902T>G, XM_047420740.1:c.1902T>C

              7.

              rs1484638502 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:150814172 (GRCh38)
                1:150786648 (GRCh37)
                Canonical SPDI:
                NC_000001.11:150814171:G:A
                Gene:
                ARNT (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                NC_000001.11:g.150814172G>A, NC_000001.10:g.150786648G>A, NG_028248.1:g.67597C>T, NM_001668.4:c.2018C>T, NM_001668.3:c.2018C>T, NM_178427.3:c.1973C>T, NM_178427.2:c.1973C>T, NM_001286035.2:c.1976C>T, NM_001286035.1:c.1976C>T, NM_001350224.2:c.1991C>T, NM_001350224.1:c.1991C>T, NM_001350225.2:c.2015C>T, NM_001350225.1:c.2015C>T, NM_001350226.2:c.2012C>T, NM_001350226.1:c.2012C>T, NM_001286036.2:c.2012C>T, NM_001286036.1:c.2012C>T, NM_001197325.2:c.1970C>T, NM_001197325.1:c.1970C>T, XM_011509543.4:c.2015C>T, XM_011509543.3:c.2015C>T, XM_011509543.2:c.2015C>T, XM_011509543.1:c.2015C>T, XM_017001288.3:c.1988C>T, XM_017001288.2:c.1988C>T, XM_017001288.1:c.1988C>T, XM_005245151.3:c.2015C>T, XM_005245151.2:c.2015C>T, XM_005245151.1:c.2015C>T, XM_017001290.3:c.1946C>T, XM_017001290.2:c.1946C>T, XM_017001290.1:c.1946C>T, XM_011509546.3:c.1922C>T, XM_011509546.2:c.1922C>T, XM_011509546.1:c.1922C>T, XM_017001289.2:c.1976C>T, XM_017001289.1:c.1976C>T, XM_017001291.2:c.1943C>T, XM_017001291.1:c.1943C>T, XM_005245153.2:c.2003C>T, XM_005245153.1:c.2003C>T, XM_017001292.2:c.1880C>T, XM_017001292.1:c.1880C>T, XM_005245157.2:c.1907C>T, XM_005245157.1:c.1907C>T, XM_017001294.2:c.1904C>T, XM_017001294.1:c.1904C>T, XM_017001293.2:c.1832C>T, XM_017001293.1:c.1832C>T, XM_017001295.2:c.1892C>T, XM_017001295.1:c.1892C>T, XM_017001296.2:c.1862C>T, XM_017001296.1:c.1862C>T, XM_047420709.1:c.2012C>T, XM_047420712.1:c.1970C>T, XM_047420743.1:c.1967C>T, XM_047420713.1:c.1964C>T, XM_047420692.1:c.1973C>T, XM_047420711.1:c.2000C>T, XM_047420694.1:c.1931C>T, XM_047420697.1:c.1928C>T, XM_047420715.1:c.1958C>T, XM_047420716.1:c.1955C>T, XM_047420700.1:c.1877C>T, XM_047420701.1:c.1835C>T, XM_047420719.1:c.1889C>T, XM_047420727.1:c.1859C>T, XM_047420734.1:c.1847C>T, XM_047420740.1:c.1844C>T, NP_001659.1:p.Pro673Leu, NP_848514.1:p.Pro658Leu, NP_001272964.1:p.Pro659Leu, NP_001337153.1:p.Pro664Leu, NP_001337154.1:p.Pro672Leu, NP_001337155.1:p.Pro671Leu, NP_001272965.1:p.Pro671Leu, NP_001184254.1:p.Pro657Leu, XP_011507845.1:p.Pro672Leu, XP_016856777.1:p.Pro663Leu, XP_005245208.1:p.Pro672Leu, XP_016856779.1:p.Pro649Leu, XP_011507848.1:p.Pro641Leu, XP_016856778.1:p.Pro659Leu, XP_016856780.1:p.Pro648Leu, XP_005245210.1:p.Pro668Leu, XP_016856781.1:p.Pro627Leu, XP_005245214.1:p.Pro636Leu, XP_016856783.1:p.Pro635Leu, XP_016856782.1:p.Pro611Leu, XP_016856784.1:p.Pro631Leu, XP_016856785.1:p.Pro621Leu, XP_047276665.1:p.Pro671Leu, XP_047276668.1:p.Pro657Leu, XP_047276699.1:p.Pro656Leu, XP_047276669.1:p.Pro655Leu, XP_047276648.1:p.Pro658Leu, XP_047276667.1:p.Pro667Leu, XP_047276650.1:p.Pro644Leu, XP_047276653.1:p.Pro643Leu, XP_047276671.1:p.Pro653Leu, XP_047276672.1:p.Pro652Leu, XP_047276656.1:p.Pro626Leu, XP_047276657.1:p.Pro612Leu, XP_047276675.1:p.Pro630Leu, XP_047276683.1:p.Pro620Leu, XP_047276690.1:p.Pro616Leu, XP_047276696.1:p.Pro615Leu

                8.

                rs1484627450 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  1:150823197 (GRCh38)
                  1:150795673 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:150823196:A:G
                  Gene:
                  ARNT (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000001.11:g.150823197A>G, NC_000001.10:g.150795673A>G, NG_028248.1:g.58572T>C, NM_001668.4:c.1391T>C, NM_001668.3:c.1391T>C, NM_178427.3:c.1346T>C, NM_178427.2:c.1346T>C, NM_001286035.2:c.1349T>C, NM_001286035.1:c.1349T>C, NM_001350224.2:c.1364T>C, NM_001350224.1:c.1364T>C, NM_001350225.2:c.1388T>C, NM_001350225.1:c.1388T>C, NM_001350226.2:c.1385T>C, NM_001350226.1:c.1385T>C, NM_001286036.2:c.1391T>C, NM_001286036.1:c.1391T>C, NM_001197325.2:c.1346T>C, NM_001197325.1:c.1346T>C, XM_011509543.4:c.1388T>C, XM_011509543.3:c.1388T>C, XM_011509543.2:c.1388T>C, XM_011509543.1:c.1388T>C, XM_017001288.3:c.1364T>C, XM_017001288.2:c.1364T>C, XM_017001288.1:c.1364T>C, XM_005245151.3:c.1391T>C, XM_005245151.2:c.1391T>C, XM_005245151.1:c.1391T>C, XM_017001290.3:c.1319T>C, XM_017001290.2:c.1319T>C, XM_017001290.1:c.1319T>C, XM_011509546.3:c.1295T>C, XM_011509546.2:c.1295T>C, XM_011509546.1:c.1295T>C, XM_017001289.2:c.1349T>C, XM_017001289.1:c.1349T>C, XM_017001291.2:c.1319T>C, XM_017001291.1:c.1319T>C, XM_005245153.2:c.1376T>C, XM_005245153.1:c.1376T>C, XM_017001292.2:c.1364T>C, XM_017001292.1:c.1364T>C, XM_005245157.2:c.1391T>C, XM_005245157.1:c.1391T>C, XM_017001294.2:c.1391T>C, XM_017001294.1:c.1391T>C, XM_017001293.2:c.1319T>C, XM_017001293.1:c.1319T>C, XM_017001295.2:c.1376T>C, XM_017001295.1:c.1376T>C, XM_017001296.2:c.1346T>C, XM_017001296.1:c.1346T>C, XM_047420709.1:c.1385T>C, XM_047420712.1:c.1343T>C, XM_047420743.1:c.1343T>C, XM_047420713.1:c.1340T>C, XM_047420692.1:c.1349T>C, XM_047420711.1:c.1376T>C, XM_047420694.1:c.1304T>C, XM_047420697.1:c.1304T>C, XM_047420715.1:c.1331T>C, XM_047420716.1:c.1331T>C, XM_047420700.1:c.1364T>C, XM_047420701.1:c.1319T>C, XM_047420719.1:c.1376T>C, XM_047420727.1:c.1346T>C, XM_047420734.1:c.1331T>C, XM_047420740.1:c.1331T>C, NP_001659.1:p.Val464Ala, NP_848514.1:p.Val449Ala, NP_001272964.1:p.Val450Ala, NP_001337153.1:p.Val455Ala, NP_001337154.1:p.Val463Ala, NP_001337155.1:p.Val462Ala, NP_001272965.1:p.Val464Ala, NP_001184254.1:p.Val449Ala, XP_011507845.1:p.Val463Ala, XP_016856777.1:p.Val455Ala, XP_005245208.1:p.Val464Ala, XP_016856779.1:p.Val440Ala, XP_011507848.1:p.Val432Ala, XP_016856778.1:p.Val450Ala, XP_016856780.1:p.Val440Ala, XP_005245210.1:p.Val459Ala, XP_016856781.1:p.Val455Ala, XP_005245214.1:p.Val464Ala, XP_016856783.1:p.Val464Ala, XP_016856782.1:p.Val440Ala, XP_016856784.1:p.Val459Ala, XP_016856785.1:p.Val449Ala, XP_047276665.1:p.Val462Ala, XP_047276668.1:p.Val448Ala, XP_047276699.1:p.Val448Ala, XP_047276669.1:p.Val447Ala, XP_047276648.1:p.Val450Ala, XP_047276667.1:p.Val459Ala, XP_047276650.1:p.Val435Ala, XP_047276653.1:p.Val435Ala, XP_047276671.1:p.Val444Ala, XP_047276672.1:p.Val444Ala, XP_047276656.1:p.Val455Ala, XP_047276657.1:p.Val440Ala, XP_047276675.1:p.Val459Ala, XP_047276683.1:p.Val449Ala, XP_047276690.1:p.Val444Ala, XP_047276696.1:p.Val444Ala

                  9.

                  rs1479769735 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:150826597 (GRCh38)
                    1:150799073 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:150826596:A:G
                    Gene:
                    ARNT (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000001.11:g.150826597A>G, NC_000001.10:g.150799073A>G, NG_028248.1:g.55172T>C, NM_001668.4:c.1188T>C, NM_001668.3:c.1188T>C, NM_178427.3:c.1143T>C, NM_178427.2:c.1143T>C, NM_001286035.2:c.1146T>C, NM_001286035.1:c.1146T>C, NM_001350224.2:c.1161T>C, NM_001350224.1:c.1161T>C, NM_001350225.2:c.1185T>C, NM_001350225.1:c.1185T>C, NM_001350226.2:c.1182T>C, NM_001350226.1:c.1182T>C, NM_001286036.2:c.1188T>C, NM_001286036.1:c.1188T>C, NM_001197325.2:c.1143T>C, NM_001197325.1:c.1143T>C, XM_011509543.4:c.1185T>C, XM_011509543.3:c.1185T>C, XM_011509543.2:c.1185T>C, XM_011509543.1:c.1185T>C, XM_017001288.3:c.1161T>C, XM_017001288.2:c.1161T>C, XM_017001288.1:c.1161T>C, XM_005245151.3:c.1188T>C, XM_005245151.2:c.1188T>C, XM_005245151.1:c.1188T>C, XM_017001290.3:c.1116T>C, XM_017001290.2:c.1116T>C, XM_017001290.1:c.1116T>C, XM_011509546.3:c.1092T>C, XM_011509546.2:c.1092T>C, XM_011509546.1:c.1092T>C, XM_017001289.2:c.1146T>C, XM_017001289.1:c.1146T>C, XM_017001291.2:c.1116T>C, XM_017001291.1:c.1116T>C, XM_005245153.2:c.1173T>C, XM_005245153.1:c.1173T>C, XM_017001292.2:c.1161T>C, XM_017001292.1:c.1161T>C, XM_005245157.2:c.1188T>C, XM_005245157.1:c.1188T>C, XM_017001294.2:c.1188T>C, XM_017001294.1:c.1188T>C, XM_017001293.2:c.1116T>C, XM_017001293.1:c.1116T>C, XM_017001295.2:c.1173T>C, XM_017001295.1:c.1173T>C, XM_017001296.2:c.1143T>C, XM_017001296.1:c.1143T>C, XM_047420709.1:c.1182T>C, XM_047420712.1:c.1140T>C, XM_047420743.1:c.1140T>C, XM_047420713.1:c.1137T>C, XM_047420692.1:c.1146T>C, XM_047420711.1:c.1173T>C, XM_047420694.1:c.1101T>C, XM_047420697.1:c.1101T>C, XM_047420715.1:c.1128T>C, XM_047420716.1:c.1128T>C, XM_047420700.1:c.1161T>C, XM_047420701.1:c.1116T>C, XM_047420719.1:c.1173T>C, XM_047420727.1:c.1143T>C, XM_047420734.1:c.1128T>C, XM_047420740.1:c.1128T>C

                    10.

                    rs1478511438 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:150816827 (GRCh38)
                      1:150789303 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:150816826:T:C
                      Gene:
                      ARNT (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.00005/1 (ALFA)
                      HGVS:
                      NC_000001.11:g.150816827T>C, NC_000001.10:g.150789303T>C, NG_028248.1:g.64942A>G, NM_001668.4:c.1763A>G, NM_001668.3:c.1763A>G, NM_178427.3:c.1718A>G, NM_178427.2:c.1718A>G, NM_001286035.2:c.1721A>G, NM_001286035.1:c.1721A>G, NM_001350224.2:c.1736A>G, NM_001350224.1:c.1736A>G, NM_001350225.2:c.1760A>G, NM_001350225.1:c.1760A>G, NM_001350226.2:c.1757A>G, NM_001350226.1:c.1757A>G, NM_001286036.2:c.1763A>G, NM_001286036.1:c.1763A>G, NM_001197325.2:c.1718A>G, NM_001197325.1:c.1718A>G, XM_011509543.4:c.1760A>G, XM_011509543.3:c.1760A>G, XM_011509543.2:c.1760A>G, XM_011509543.1:c.1760A>G, XM_017001288.3:c.1736A>G, XM_017001288.2:c.1736A>G, XM_017001288.1:c.1736A>G, XM_005245151.3:c.1763A>G, XM_005245151.2:c.1763A>G, XM_005245151.1:c.1763A>G, XM_017001290.3:c.1691A>G, XM_017001290.2:c.1691A>G, XM_017001290.1:c.1691A>G, XM_011509546.3:c.1667A>G, XM_011509546.2:c.1667A>G, XM_011509546.1:c.1667A>G, XM_017001289.2:c.1721A>G, XM_017001289.1:c.1721A>G, XM_017001291.2:c.1691A>G, XM_017001291.1:c.1691A>G, XM_005245153.2:c.1748A>G, XM_005245153.1:c.1748A>G, XM_017001292.2:c.1625A>G, XM_017001292.1:c.1625A>G, XM_005245157.2:c.1652A>G, XM_005245157.1:c.1652A>G, XM_017001294.2:c.1652A>G, XM_017001294.1:c.1652A>G, XM_017001293.2:c.1580A>G, XM_017001293.1:c.1580A>G, XM_017001295.2:c.1637A>G, XM_017001295.1:c.1637A>G, XM_017001296.2:c.1607A>G, XM_017001296.1:c.1607A>G, XM_047420709.1:c.1757A>G, XM_047420712.1:c.1715A>G, XM_047420743.1:c.1715A>G, XM_047420713.1:c.1712A>G, XM_047420692.1:c.1721A>G, XM_047420711.1:c.1748A>G, XM_047420694.1:c.1676A>G, XM_047420697.1:c.1676A>G, XM_047420715.1:c.1703A>G, XM_047420716.1:c.1703A>G, XM_047420700.1:c.1625A>G, XM_047420701.1:c.1580A>G, XM_047420719.1:c.1637A>G, XM_047420727.1:c.1607A>G, XM_047420734.1:c.1592A>G, XM_047420740.1:c.1592A>G, NP_001659.1:p.Asn588Ser, NP_848514.1:p.Asn573Ser, NP_001272964.1:p.Asn574Ser, NP_001337153.1:p.Asn579Ser, NP_001337154.1:p.Asn587Ser, NP_001337155.1:p.Asn586Ser, NP_001272965.1:p.Asn588Ser, NP_001184254.1:p.Asn573Ser, XP_011507845.1:p.Asn587Ser, XP_016856777.1:p.Asn579Ser, XP_005245208.1:p.Asn588Ser, XP_016856779.1:p.Asn564Ser, XP_011507848.1:p.Asn556Ser, XP_016856778.1:p.Asn574Ser, XP_016856780.1:p.Asn564Ser, XP_005245210.1:p.Asn583Ser, XP_016856781.1:p.Asn542Ser, XP_005245214.1:p.Asn551Ser, XP_016856783.1:p.Asn551Ser, XP_016856782.1:p.Asn527Ser, XP_016856784.1:p.Asn546Ser, XP_016856785.1:p.Asn536Ser, XP_047276665.1:p.Asn586Ser, XP_047276668.1:p.Asn572Ser, XP_047276699.1:p.Asn572Ser, XP_047276669.1:p.Asn571Ser, XP_047276648.1:p.Asn574Ser, XP_047276667.1:p.Asn583Ser, XP_047276650.1:p.Asn559Ser, XP_047276653.1:p.Asn559Ser, XP_047276671.1:p.Asn568Ser, XP_047276672.1:p.Asn568Ser, XP_047276656.1:p.Asn542Ser, XP_047276657.1:p.Asn527Ser, XP_047276675.1:p.Asn546Ser, XP_047276683.1:p.Asn536Ser, XP_047276690.1:p.Asn531Ser, XP_047276696.1:p.Asn531Ser

                      11.

                      rs1478084024 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        1:150846297 (GRCh38)
                        1:150818773 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:150846296:C:G
                        Gene:
                        ARNT (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000001.11:g.150846297C>G, NC_000001.10:g.150818773C>G, NG_028248.1:g.35472G>C, NM_001668.4:c.193G>C, NM_001668.3:c.193G>C, NM_178427.3:c.193G>C, NM_178427.2:c.193G>C, NM_001286035.2:c.166G>C, NM_001286035.1:c.166G>C, NM_001350224.2:c.166G>C, NM_001350224.1:c.166G>C, NM_001350225.2:c.190G>C, NM_001350225.1:c.190G>C, NM_001350226.2:c.187G>C, NM_001350226.1:c.187G>C, NM_001286036.2:c.193G>C, NM_001286036.1:c.193G>C, NM_001197325.2:c.193G>C, NM_001197325.1:c.193G>C, XM_011509543.4:c.190G>C, XM_011509543.3:c.190G>C, XM_011509543.2:c.190G>C, XM_011509543.1:c.190G>C, XM_017001288.3:c.166G>C, XM_017001288.2:c.166G>C, XM_017001288.1:c.166G>C, XM_005245151.3:c.193G>C, XM_005245151.2:c.193G>C, XM_005245151.1:c.193G>C, XM_017001290.3:c.166G>C, XM_017001290.2:c.166G>C, XM_017001290.1:c.166G>C, XM_011509546.3:c.97G>C, XM_011509546.2:c.97G>C, XM_011509546.1:c.97G>C, XM_017001289.2:c.166G>C, XM_017001289.1:c.166G>C, XM_017001291.2:c.166G>C, XM_017001291.1:c.166G>C, XM_005245153.2:c.193G>C, XM_005245153.1:c.193G>C, XM_017001292.2:c.166G>C, XM_017001292.1:c.166G>C, XM_005245157.2:c.193G>C, XM_005245157.1:c.193G>C, XM_017001294.2:c.193G>C, XM_017001294.1:c.193G>C, XM_017001293.2:c.166G>C, XM_017001293.1:c.166G>C, XM_017001295.2:c.193G>C, XM_017001295.1:c.193G>C, XM_017001296.2:c.193G>C, XM_017001296.1:c.193G>C, XM_047420709.1:c.187G>C, XM_047420712.1:c.190G>C, XM_047420743.1:c.190G>C, XM_047420713.1:c.187G>C, XM_047420692.1:c.166G>C, XM_047420711.1:c.193G>C, XM_047420694.1:c.166G>C, XM_047420697.1:c.166G>C, XM_047420715.1:c.193G>C, XM_047420716.1:c.193G>C, XM_047420700.1:c.166G>C, XM_047420701.1:c.166G>C, XM_047420719.1:c.193G>C, XM_047420727.1:c.193G>C, XM_047420734.1:c.193G>C, XM_047420740.1:c.193G>C, NM_178426.1:c.193G>C, NP_001659.1:p.Asp65His, NP_848514.1:p.Asp65His, NP_001272964.1:p.Asp56His, NP_001337153.1:p.Asp56His, NP_001337154.1:p.Asp64His, NP_001337155.1:p.Asp63His, NP_001272965.1:p.Asp65His, NP_001184254.1:p.Asp65His, XP_011507845.1:p.Asp64His, XP_016856777.1:p.Asp56His, XP_005245208.1:p.Asp65His, XP_016856779.1:p.Asp56His, XP_011507848.1:p.Asp33His, XP_016856778.1:p.Asp56His, XP_016856780.1:p.Asp56His, XP_005245210.1:p.Asp65His, XP_016856781.1:p.Asp56His, XP_005245214.1:p.Asp65His, XP_016856783.1:p.Asp65His, XP_016856782.1:p.Asp56His, XP_016856784.1:p.Asp65His, XP_016856785.1:p.Asp65His, XP_047276665.1:p.Asp63His, XP_047276668.1:p.Asp64His, XP_047276699.1:p.Asp64His, XP_047276669.1:p.Asp63His, XP_047276648.1:p.Asp56His, XP_047276667.1:p.Asp65His, XP_047276650.1:p.Asp56His, XP_047276653.1:p.Asp56His, XP_047276671.1:p.Asp65His, XP_047276672.1:p.Asp65His, XP_047276656.1:p.Asp56His, XP_047276657.1:p.Asp56His, XP_047276675.1:p.Asp65His, XP_047276683.1:p.Asp65His, XP_047276690.1:p.Asp65His, XP_047276696.1:p.Asp65His

                        12.

                        rs1478022649 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C,T [Show Flanks]
                          Chromosome:
                          1:150812035 (GRCh38)
                          1:150784511 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:150812034:G:C,NC_000001.11:150812034:G:T
                          Gene:
                          ARNT (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000001.11:g.150812035G>C, NC_000001.11:g.150812035G>T, NC_000001.10:g.150784511G>C, NC_000001.10:g.150784511G>T, NG_028248.1:g.69734C>G, NG_028248.1:g.69734C>A, NM_001668.4:c.2356C>G, NM_001668.4:c.2356C>A, NM_001668.3:c.2356C>G, NM_001668.3:c.2356C>A, NM_178427.3:c.2311C>G, NM_178427.3:c.2311C>A, NM_178427.2:c.2311C>G, NM_178427.2:c.2311C>A, NM_001286035.2:c.2314C>G, NM_001286035.2:c.2314C>A, NM_001286035.1:c.2314C>G, NM_001286035.1:c.2314C>A, NM_001350224.2:c.2329C>G, NM_001350224.2:c.2329C>A, NM_001350224.1:c.2329C>G, NM_001350224.1:c.2329C>A, NM_001350225.2:c.2353C>G, NM_001350225.2:c.2353C>A, NM_001350225.1:c.2353C>G, NM_001350225.1:c.2353C>A, NM_001350226.2:c.2350C>G, NM_001350226.2:c.2350C>A, NM_001350226.1:c.2350C>G, NM_001350226.1:c.2350C>A, NM_001286036.2:c.2350C>G, NM_001286036.2:c.2350C>A, NM_001286036.1:c.2350C>G, NM_001286036.1:c.2350C>A, NM_001197325.2:c.2308C>G, NM_001197325.2:c.2308C>A, NM_001197325.1:c.2308C>G, NM_001197325.1:c.2308C>A, NG_011848.1:g.1302C>G, NG_011848.1:g.1302C>A, XM_011509543.4:c.2353C>G, XM_011509543.4:c.2353C>A, XM_011509543.3:c.2353C>G, XM_011509543.3:c.2353C>A, XM_011509543.2:c.2353C>G, XM_011509543.2:c.2353C>A, XM_011509543.1:c.2353C>G, XM_011509543.1:c.2353C>A, XM_017001288.3:c.2326C>G, XM_017001288.3:c.2326C>A, XM_017001288.2:c.2326C>G, XM_017001288.2:c.2326C>A, XM_017001288.1:c.2326C>G, XM_017001288.1:c.2326C>A, XM_005245151.3:c.2353C>G, XM_005245151.3:c.2353C>A, XM_005245151.2:c.2353C>G, XM_005245151.2:c.2353C>A, XM_005245151.1:c.2353C>G, XM_005245151.1:c.2353C>A, XM_017001290.3:c.2284C>G, XM_017001290.3:c.2284C>A, XM_017001290.2:c.2284C>G, XM_017001290.2:c.2284C>A, XM_017001290.1:c.2284C>G, XM_017001290.1:c.2284C>A, XM_011509546.3:c.2260C>G, XM_011509546.3:c.2260C>A, XM_011509546.2:c.2260C>G, XM_011509546.2:c.2260C>A, XM_011509546.1:c.2260C>G, XM_011509546.1:c.2260C>A, XM_017001289.2:c.2314C>G, XM_017001289.2:c.2314C>A, XM_017001289.1:c.2314C>G, XM_017001289.1:c.2314C>A, XM_017001291.2:c.2281C>G, XM_017001291.2:c.2281C>A, XM_017001291.1:c.2281C>G, XM_017001291.1:c.2281C>A, XM_005245153.2:c.2341C>G, XM_005245153.2:c.2341C>A, XM_005245153.1:c.2341C>G, XM_005245153.1:c.2341C>A, XM_017001292.2:c.2218C>G, XM_017001292.2:c.2218C>A, XM_017001292.1:c.2218C>G, XM_017001292.1:c.2218C>A, XM_005245157.2:c.2245C>G, XM_005245157.2:c.2245C>A, XM_005245157.1:c.2245C>G, XM_005245157.1:c.2245C>A, XM_017001294.2:c.2242C>G, XM_017001294.2:c.2242C>A, XM_017001294.1:c.2242C>G, XM_017001294.1:c.2242C>A, XM_017001293.2:c.2170C>G, XM_017001293.2:c.2170C>A, XM_017001293.1:c.2170C>G, XM_017001293.1:c.2170C>A, XM_017001295.2:c.2230C>G, XM_017001295.2:c.2230C>A, XM_017001295.1:c.2230C>G, XM_017001295.1:c.2230C>A, XM_017001296.2:c.2200C>G, XM_017001296.2:c.2200C>A, XM_017001296.1:c.2200C>G, XM_017001296.1:c.2200C>A, XM_047420709.1:c.2350C>G, XM_047420709.1:c.2350C>A, XM_047420712.1:c.2308C>G, XM_047420712.1:c.2308C>A, XM_047420743.1:c.2305C>G, XM_047420743.1:c.2305C>A, XM_047420713.1:c.2302C>G, XM_047420713.1:c.2302C>A, XM_047420692.1:c.2311C>G, XM_047420692.1:c.2311C>A, XM_047420711.1:c.2338C>G, XM_047420711.1:c.2338C>A, XM_047420694.1:c.2269C>G, XM_047420694.1:c.2269C>A, XM_047420697.1:c.2266C>G, XM_047420697.1:c.2266C>A, XM_047420715.1:c.2296C>G, XM_047420715.1:c.2296C>A, XM_047420716.1:c.2293C>G, XM_047420716.1:c.2293C>A, XM_047420700.1:c.2215C>G, XM_047420700.1:c.2215C>A, XM_047420701.1:c.2173C>G, XM_047420701.1:c.2173C>A, XM_047420719.1:c.2227C>G, XM_047420719.1:c.2227C>A, XM_047420727.1:c.2197C>G, XM_047420727.1:c.2197C>A, XM_047420734.1:c.2185C>G, XM_047420734.1:c.2185C>A, XM_047420740.1:c.2182C>G, XM_047420740.1:c.2182C>A, NM_178426.1:c.*86C>G, NM_178426.1:c.*86C>A, NP_001659.1:p.Pro786Ala, NP_001659.1:p.Pro786Thr, NP_848514.1:p.Pro771Ala, NP_848514.1:p.Pro771Thr, NP_001272964.1:p.Pro772Ala, NP_001272964.1:p.Pro772Thr, NP_001337153.1:p.Pro777Ala, NP_001337153.1:p.Pro777Thr, NP_001337154.1:p.Pro785Ala, NP_001337154.1:p.Pro785Thr, NP_001337155.1:p.Pro784Ala, NP_001337155.1:p.Pro784Thr, NP_001272965.1:p.Pro784Ala, NP_001272965.1:p.Pro784Thr, NP_001184254.1:p.Pro770Ala, NP_001184254.1:p.Pro770Thr, XP_011507845.1:p.Pro785Ala, XP_011507845.1:p.Pro785Thr, XP_016856777.1:p.Pro776Ala, XP_016856777.1:p.Pro776Thr, XP_005245208.1:p.Pro785Ala, XP_005245208.1:p.Pro785Thr, XP_016856779.1:p.Pro762Ala, XP_016856779.1:p.Pro762Thr, XP_011507848.1:p.Pro754Ala, XP_011507848.1:p.Pro754Thr, XP_016856778.1:p.Pro772Ala, XP_016856778.1:p.Pro772Thr, XP_016856780.1:p.Pro761Ala, XP_016856780.1:p.Pro761Thr, XP_005245210.1:p.Pro781Ala, XP_005245210.1:p.Pro781Thr, XP_016856781.1:p.Pro740Ala, XP_016856781.1:p.Pro740Thr, XP_005245214.1:p.Pro749Ala, XP_005245214.1:p.Pro749Thr, XP_016856783.1:p.Pro748Ala, XP_016856783.1:p.Pro748Thr, XP_016856782.1:p.Pro724Ala, XP_016856782.1:p.Pro724Thr, XP_016856784.1:p.Pro744Ala, XP_016856784.1:p.Pro744Thr, XP_016856785.1:p.Pro734Ala, XP_016856785.1:p.Pro734Thr, XP_047276665.1:p.Pro784Ala, XP_047276665.1:p.Pro784Thr, XP_047276668.1:p.Pro770Ala, XP_047276668.1:p.Pro770Thr, XP_047276699.1:p.Pro769Ala, XP_047276699.1:p.Pro769Thr, XP_047276669.1:p.Pro768Ala, XP_047276669.1:p.Pro768Thr, XP_047276648.1:p.Pro771Ala, XP_047276648.1:p.Pro771Thr, XP_047276667.1:p.Pro780Ala, XP_047276667.1:p.Pro780Thr, XP_047276650.1:p.Pro757Ala, XP_047276650.1:p.Pro757Thr, XP_047276653.1:p.Pro756Ala, XP_047276653.1:p.Pro756Thr, XP_047276671.1:p.Pro766Ala, XP_047276671.1:p.Pro766Thr, XP_047276672.1:p.Pro765Ala, XP_047276672.1:p.Pro765Thr, XP_047276656.1:p.Pro739Ala, XP_047276656.1:p.Pro739Thr, XP_047276657.1:p.Pro725Ala, XP_047276657.1:p.Pro725Thr, XP_047276675.1:p.Pro743Ala, XP_047276675.1:p.Pro743Thr, XP_047276683.1:p.Pro733Ala, XP_047276683.1:p.Pro733Thr, XP_047276690.1:p.Pro729Ala, XP_047276690.1:p.Pro729Thr, XP_047276696.1:p.Pro728Ala, XP_047276696.1:p.Pro728Thr

                          13.

                          rs1477879094 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            1:150816296 (GRCh38)
                            1:150788772 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:150816295:G:C
                            Gene:
                            ARNT (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            HGVS:
                            NC_000001.11:g.150816296G>C, NC_000001.10:g.150788772G>C, NG_028248.1:g.65473C>G, NM_001668.4:c.1913C>G, NM_001668.3:c.1913C>G, NM_178427.3:c.1868C>G, NM_178427.2:c.1868C>G, NM_001286035.2:c.1871C>G, NM_001286035.1:c.1871C>G, NM_001350224.2:c.1886C>G, NM_001350224.1:c.1886C>G, NM_001350225.2:c.1910C>G, NM_001350225.1:c.1910C>G, NM_001350226.2:c.1907C>G, NM_001350226.1:c.1907C>G, NM_001286036.2:c.1907C>G, NM_001286036.1:c.1907C>G, NM_001197325.2:c.1868C>G, NM_001197325.1:c.1868C>G, XM_011509543.4:c.1910C>G, XM_011509543.3:c.1910C>G, XM_011509543.2:c.1910C>G, XM_011509543.1:c.1910C>G, XM_017001288.3:c.1886C>G, XM_017001288.2:c.1886C>G, XM_017001288.1:c.1886C>G, XM_005245151.3:c.1913C>G, XM_005245151.2:c.1913C>G, XM_005245151.1:c.1913C>G, XM_017001290.3:c.1841C>G, XM_017001290.2:c.1841C>G, XM_017001290.1:c.1841C>G, XM_011509546.3:c.1817C>G, XM_011509546.2:c.1817C>G, XM_011509546.1:c.1817C>G, XM_017001289.2:c.1871C>G, XM_017001289.1:c.1871C>G, XM_017001291.2:c.1841C>G, XM_017001291.1:c.1841C>G, XM_005245153.2:c.1898C>G, XM_005245153.1:c.1898C>G, XM_017001292.2:c.1775C>G, XM_017001292.1:c.1775C>G, XM_005245157.2:c.1802C>G, XM_005245157.1:c.1802C>G, XM_017001294.2:c.1802C>G, XM_017001294.1:c.1802C>G, XM_017001293.2:c.1730C>G, XM_017001293.1:c.1730C>G, XM_017001295.2:c.1787C>G, XM_017001295.1:c.1787C>G, XM_017001296.2:c.1757C>G, XM_017001296.1:c.1757C>G, XM_047420709.1:c.1907C>G, XM_047420712.1:c.1865C>G, XM_047420743.1:c.1865C>G, XM_047420713.1:c.1862C>G, XM_047420692.1:c.1871C>G, XM_047420711.1:c.1898C>G, XM_047420694.1:c.1826C>G, XM_047420697.1:c.1826C>G, XM_047420715.1:c.1853C>G, XM_047420716.1:c.1853C>G, XM_047420700.1:c.1775C>G, XM_047420701.1:c.1730C>G, XM_047420719.1:c.1787C>G, XM_047420727.1:c.1757C>G, XM_047420734.1:c.1742C>G, XM_047420740.1:c.1742C>G, NP_001659.1:p.Thr638Ser, NP_848514.1:p.Thr623Ser, NP_001272964.1:p.Thr624Ser, NP_001337153.1:p.Thr629Ser, NP_001337154.1:p.Thr637Ser, NP_001337155.1:p.Thr636Ser, NP_001272965.1:p.Thr636Ser, NP_001184254.1:p.Thr623Ser, XP_011507845.1:p.Thr637Ser, XP_016856777.1:p.Thr629Ser, XP_005245208.1:p.Thr638Ser, XP_016856779.1:p.Thr614Ser, XP_011507848.1:p.Thr606Ser, XP_016856778.1:p.Thr624Ser, XP_016856780.1:p.Thr614Ser, XP_005245210.1:p.Thr633Ser, XP_016856781.1:p.Thr592Ser, XP_005245214.1:p.Thr601Ser, XP_016856783.1:p.Thr601Ser, XP_016856782.1:p.Thr577Ser, XP_016856784.1:p.Thr596Ser, XP_016856785.1:p.Thr586Ser, XP_047276665.1:p.Thr636Ser, XP_047276668.1:p.Thr622Ser, XP_047276699.1:p.Thr622Ser, XP_047276669.1:p.Thr621Ser, XP_047276648.1:p.Thr624Ser, XP_047276667.1:p.Thr633Ser, XP_047276650.1:p.Thr609Ser, XP_047276653.1:p.Thr609Ser, XP_047276671.1:p.Thr618Ser, XP_047276672.1:p.Thr618Ser, XP_047276656.1:p.Thr592Ser, XP_047276657.1:p.Thr577Ser, XP_047276675.1:p.Thr596Ser, XP_047276683.1:p.Thr586Ser, XP_047276690.1:p.Thr581Ser, XP_047276696.1:p.Thr581Ser

                            14.

                            rs1476688278 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              1:150813220 (GRCh38)
                              1:150785696 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:150813219:A:G
                              Gene:
                              ARNT (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000001.11:g.150813220A>G, NC_000001.10:g.150785696A>G, NG_028248.1:g.68549T>C, NM_001668.4:c.2232T>C, NM_001668.3:c.2232T>C, NM_178427.3:c.2187T>C, NM_178427.2:c.2187T>C, NM_001286035.2:c.2190T>C, NM_001286035.1:c.2190T>C, NM_001350224.2:c.2205T>C, NM_001350224.1:c.2205T>C, NM_001350225.2:c.2229T>C, NM_001350225.1:c.2229T>C, NM_001350226.2:c.2226T>C, NM_001350226.1:c.2226T>C, NM_001286036.2:c.2226T>C, NM_001286036.1:c.2226T>C, NM_001197325.2:c.2184T>C, NM_001197325.1:c.2184T>C, NG_011848.1:g.117T>C, XM_011509543.4:c.2229T>C, XM_011509543.3:c.2229T>C, XM_011509543.2:c.2229T>C, XM_011509543.1:c.2229T>C, XM_017001288.3:c.2202T>C, XM_017001288.2:c.2202T>C, XM_017001288.1:c.2202T>C, XM_005245151.3:c.2229T>C, XM_005245151.2:c.2229T>C, XM_005245151.1:c.2229T>C, XM_017001290.3:c.2160T>C, XM_017001290.2:c.2160T>C, XM_017001290.1:c.2160T>C, XM_011509546.3:c.2136T>C, XM_011509546.2:c.2136T>C, XM_011509546.1:c.2136T>C, XM_017001289.2:c.2190T>C, XM_017001289.1:c.2190T>C, XM_017001291.2:c.2157T>C, XM_017001291.1:c.2157T>C, XM_005245153.2:c.2217T>C, XM_005245153.1:c.2217T>C, XM_017001292.2:c.2094T>C, XM_017001292.1:c.2094T>C, XM_005245157.2:c.2121T>C, XM_005245157.1:c.2121T>C, XM_017001294.2:c.2118T>C, XM_017001294.1:c.2118T>C, XM_017001293.2:c.2046T>C, XM_017001293.1:c.2046T>C, XM_017001295.2:c.2106T>C, XM_017001295.1:c.2106T>C, XM_017001296.2:c.2076T>C, XM_017001296.1:c.2076T>C, XM_047420709.1:c.2226T>C, XM_047420712.1:c.2184T>C, XM_047420743.1:c.2181T>C, XM_047420713.1:c.2178T>C, XM_047420692.1:c.2187T>C, XM_047420711.1:c.2214T>C, XM_047420694.1:c.2145T>C, XM_047420697.1:c.2142T>C, XM_047420715.1:c.2172T>C, XM_047420716.1:c.2169T>C, XM_047420700.1:c.2091T>C, XM_047420701.1:c.2049T>C, XM_047420719.1:c.2103T>C, XM_047420727.1:c.2073T>C, XM_047420734.1:c.2061T>C, XM_047420740.1:c.2058T>C

                              15.

                              rs1475913679 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:150812044 (GRCh38)
                                1:150784520 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:150812043:T:C
                                Gene:
                                ARNT (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                C=0.000008/2 (TOPMED)
                                C=0.000009/2 (GnomAD_exomes)
                                C=0.000342/1 (KOREAN)
                                HGVS:
                                NC_000001.11:g.150812044T>C, NC_000001.10:g.150784520T>C, NG_028248.1:g.69725A>G, NM_001668.4:c.2347A>G, NM_001668.3:c.2347A>G, NM_178427.3:c.2302A>G, NM_178427.2:c.2302A>G, NM_001286035.2:c.2305A>G, NM_001286035.1:c.2305A>G, NM_001350224.2:c.2320A>G, NM_001350224.1:c.2320A>G, NM_001350225.2:c.2344A>G, NM_001350225.1:c.2344A>G, NM_001350226.2:c.2341A>G, NM_001350226.1:c.2341A>G, NM_001286036.2:c.2341A>G, NM_001286036.1:c.2341A>G, NM_001197325.2:c.2299A>G, NM_001197325.1:c.2299A>G, NG_011848.1:g.1293A>G, XM_011509543.4:c.2344A>G, XM_011509543.3:c.2344A>G, XM_011509543.2:c.2344A>G, XM_011509543.1:c.2344A>G, XM_017001288.3:c.2317A>G, XM_017001288.2:c.2317A>G, XM_017001288.1:c.2317A>G, XM_005245151.3:c.2344A>G, XM_005245151.2:c.2344A>G, XM_005245151.1:c.2344A>G, XM_017001290.3:c.2275A>G, XM_017001290.2:c.2275A>G, XM_017001290.1:c.2275A>G, XM_011509546.3:c.2251A>G, XM_011509546.2:c.2251A>G, XM_011509546.1:c.2251A>G, XM_017001289.2:c.2305A>G, XM_017001289.1:c.2305A>G, XM_017001291.2:c.2272A>G, XM_017001291.1:c.2272A>G, XM_005245153.2:c.2332A>G, XM_005245153.1:c.2332A>G, XM_017001292.2:c.2209A>G, XM_017001292.1:c.2209A>G, XM_005245157.2:c.2236A>G, XM_005245157.1:c.2236A>G, XM_017001294.2:c.2233A>G, XM_017001294.1:c.2233A>G, XM_017001293.2:c.2161A>G, XM_017001293.1:c.2161A>G, XM_017001295.2:c.2221A>G, XM_017001295.1:c.2221A>G, XM_017001296.2:c.2191A>G, XM_017001296.1:c.2191A>G, XM_047420709.1:c.2341A>G, XM_047420712.1:c.2299A>G, XM_047420743.1:c.2296A>G, XM_047420713.1:c.2293A>G, XM_047420692.1:c.2302A>G, XM_047420711.1:c.2329A>G, XM_047420694.1:c.2260A>G, XM_047420697.1:c.2257A>G, XM_047420715.1:c.2287A>G, XM_047420716.1:c.2284A>G, XM_047420700.1:c.2206A>G, XM_047420701.1:c.2164A>G, XM_047420719.1:c.2218A>G, XM_047420727.1:c.2188A>G, XM_047420734.1:c.2176A>G, XM_047420740.1:c.2173A>G, NM_178426.1:c.*77A>G, NP_001659.1:p.Met783Val, NP_848514.1:p.Met768Val, NP_001272964.1:p.Met769Val, NP_001337153.1:p.Met774Val, NP_001337154.1:p.Met782Val, NP_001337155.1:p.Met781Val, NP_001272965.1:p.Met781Val, NP_001184254.1:p.Met767Val, XP_011507845.1:p.Met782Val, XP_016856777.1:p.Met773Val, XP_005245208.1:p.Met782Val, XP_016856779.1:p.Met759Val, XP_011507848.1:p.Met751Val, XP_016856778.1:p.Met769Val, XP_016856780.1:p.Met758Val, XP_005245210.1:p.Met778Val, XP_016856781.1:p.Met737Val, XP_005245214.1:p.Met746Val, XP_016856783.1:p.Met745Val, XP_016856782.1:p.Met721Val, XP_016856784.1:p.Met741Val, XP_016856785.1:p.Met731Val, XP_047276665.1:p.Met781Val, XP_047276668.1:p.Met767Val, XP_047276699.1:p.Met766Val, XP_047276669.1:p.Met765Val, XP_047276648.1:p.Met768Val, XP_047276667.1:p.Met777Val, XP_047276650.1:p.Met754Val, XP_047276653.1:p.Met753Val, XP_047276671.1:p.Met763Val, XP_047276672.1:p.Met762Val, XP_047276656.1:p.Met736Val, XP_047276657.1:p.Met722Val, XP_047276675.1:p.Met740Val, XP_047276683.1:p.Met730Val, XP_047276690.1:p.Met726Val, XP_047276696.1:p.Met725Val

                                16.

                                rs1474981328 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  1:150817198 (GRCh38)
                                  1:150789674 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:150817197:A:G
                                  Gene:
                                  ARNT (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000001.11:g.150817198A>G, NC_000001.10:g.150789674A>G, NG_028248.1:g.64571T>C, NM_001668.4:c.1583T>C, NM_001668.3:c.1583T>C, NM_178427.3:c.1538T>C, NM_178427.2:c.1538T>C, NM_001286035.2:c.1541T>C, NM_001286035.1:c.1541T>C, NM_001350224.2:c.1556T>C, NM_001350224.1:c.1556T>C, NM_001350225.2:c.1580T>C, NM_001350225.1:c.1580T>C, NM_001350226.2:c.1577T>C, NM_001350226.1:c.1577T>C, NM_001286036.2:c.1583T>C, NM_001286036.1:c.1583T>C, NM_001197325.2:c.1538T>C, NM_001197325.1:c.1538T>C, XM_011509543.4:c.1580T>C, XM_011509543.3:c.1580T>C, XM_011509543.2:c.1580T>C, XM_011509543.1:c.1580T>C, XM_017001288.3:c.1556T>C, XM_017001288.2:c.1556T>C, XM_017001288.1:c.1556T>C, XM_005245151.3:c.1583T>C, XM_005245151.2:c.1583T>C, XM_005245151.1:c.1583T>C, XM_017001290.3:c.1511T>C, XM_017001290.2:c.1511T>C, XM_017001290.1:c.1511T>C, XM_011509546.3:c.1487T>C, XM_011509546.2:c.1487T>C, XM_011509546.1:c.1487T>C, XM_017001289.2:c.1541T>C, XM_017001289.1:c.1541T>C, XM_017001291.2:c.1511T>C, XM_017001291.1:c.1511T>C, XM_005245153.2:c.1568T>C, XM_005245153.1:c.1568T>C, XM_017001292.2:c.1445T>C, XM_017001292.1:c.1445T>C, XM_005245157.2:c.1472T>C, XM_005245157.1:c.1472T>C, XM_017001294.2:c.1472T>C, XM_017001294.1:c.1472T>C, XM_017001293.2:c.1400T>C, XM_017001293.1:c.1400T>C, XM_017001295.2:c.1457T>C, XM_017001295.1:c.1457T>C, XM_017001296.2:c.1427T>C, XM_017001296.1:c.1427T>C, XM_047420709.1:c.1577T>C, XM_047420712.1:c.1535T>C, XM_047420743.1:c.1535T>C, XM_047420713.1:c.1532T>C, XM_047420692.1:c.1541T>C, XM_047420711.1:c.1568T>C, XM_047420694.1:c.1496T>C, XM_047420697.1:c.1496T>C, XM_047420715.1:c.1523T>C, XM_047420716.1:c.1523T>C, XM_047420700.1:c.1445T>C, XM_047420701.1:c.1400T>C, XM_047420719.1:c.1457T>C, XM_047420727.1:c.1427T>C, XM_047420734.1:c.1412T>C, XM_047420740.1:c.1412T>C, NP_001659.1:p.Val528Ala, NP_848514.1:p.Val513Ala, NP_001272964.1:p.Val514Ala, NP_001337153.1:p.Val519Ala, NP_001337154.1:p.Val527Ala, NP_001337155.1:p.Val526Ala, NP_001272965.1:p.Val528Ala, NP_001184254.1:p.Val513Ala, XP_011507845.1:p.Val527Ala, XP_016856777.1:p.Val519Ala, XP_005245208.1:p.Val528Ala, XP_016856779.1:p.Val504Ala, XP_011507848.1:p.Val496Ala, XP_016856778.1:p.Val514Ala, XP_016856780.1:p.Val504Ala, XP_005245210.1:p.Val523Ala, XP_016856781.1:p.Val482Ala, XP_005245214.1:p.Val491Ala, XP_016856783.1:p.Val491Ala, XP_016856782.1:p.Val467Ala, XP_016856784.1:p.Val486Ala, XP_016856785.1:p.Val476Ala, XP_047276665.1:p.Val526Ala, XP_047276668.1:p.Val512Ala, XP_047276699.1:p.Val512Ala, XP_047276669.1:p.Val511Ala, XP_047276648.1:p.Val514Ala, XP_047276667.1:p.Val523Ala, XP_047276650.1:p.Val499Ala, XP_047276653.1:p.Val499Ala, XP_047276671.1:p.Val508Ala, XP_047276672.1:p.Val508Ala, XP_047276656.1:p.Val482Ala, XP_047276657.1:p.Val467Ala, XP_047276675.1:p.Val486Ala, XP_047276683.1:p.Val476Ala, XP_047276690.1:p.Val471Ala, XP_047276696.1:p.Val471Ala

                                  17.

                                  rs1474921727 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    1:150816288 (GRCh38)
                                    1:150788764 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:150816287:G:A,NC_000001.11:150816287:G:C
                                    Gene:
                                    ARNT (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0./0 (GnomAD)
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000001.11:g.150816288G>A, NC_000001.11:g.150816288G>C, NC_000001.10:g.150788764G>A, NC_000001.10:g.150788764G>C, NG_028248.1:g.65481C>T, NG_028248.1:g.65481C>G, NM_001668.4:c.1921C>T, NM_001668.4:c.1921C>G, NM_001668.3:c.1921C>T, NM_001668.3:c.1921C>G, NM_178427.3:c.1876C>T, NM_178427.3:c.1876C>G, NM_178427.2:c.1876C>T, NM_178427.2:c.1876C>G, NM_001286035.2:c.1879C>T, NM_001286035.2:c.1879C>G, NM_001286035.1:c.1879C>T, NM_001286035.1:c.1879C>G, NM_001350224.2:c.1894C>T, NM_001350224.2:c.1894C>G, NM_001350224.1:c.1894C>T, NM_001350224.1:c.1894C>G, NM_001350225.2:c.1918C>T, NM_001350225.2:c.1918C>G, NM_001350225.1:c.1918C>T, NM_001350225.1:c.1918C>G, NM_001350226.2:c.1915C>T, NM_001350226.2:c.1915C>G, NM_001350226.1:c.1915C>T, NM_001350226.1:c.1915C>G, NM_001286036.2:c.1915C>T, NM_001286036.2:c.1915C>G, NM_001286036.1:c.1915C>T, NM_001286036.1:c.1915C>G, NM_001197325.2:c.1876C>T, NM_001197325.2:c.1876C>G, NM_001197325.1:c.1876C>T, NM_001197325.1:c.1876C>G, XM_011509543.4:c.1918C>T, XM_011509543.4:c.1918C>G, XM_011509543.3:c.1918C>T, XM_011509543.3:c.1918C>G, XM_011509543.2:c.1918C>T, XM_011509543.2:c.1918C>G, XM_011509543.1:c.1918C>T, XM_011509543.1:c.1918C>G, XM_017001288.3:c.1894C>T, XM_017001288.3:c.1894C>G, XM_017001288.2:c.1894C>T, XM_017001288.2:c.1894C>G, XM_017001288.1:c.1894C>T, XM_017001288.1:c.1894C>G, XM_005245151.3:c.1921C>T, XM_005245151.3:c.1921C>G, XM_005245151.2:c.1921C>T, XM_005245151.2:c.1921C>G, XM_005245151.1:c.1921C>T, XM_005245151.1:c.1921C>G, XM_017001290.3:c.1849C>T, XM_017001290.3:c.1849C>G, XM_017001290.2:c.1849C>T, XM_017001290.2:c.1849C>G, XM_017001290.1:c.1849C>T, XM_017001290.1:c.1849C>G, XM_011509546.3:c.1825C>T, XM_011509546.3:c.1825C>G, XM_011509546.2:c.1825C>T, XM_011509546.2:c.1825C>G, XM_011509546.1:c.1825C>T, XM_011509546.1:c.1825C>G, XM_017001289.2:c.1879C>T, XM_017001289.2:c.1879C>G, XM_017001289.1:c.1879C>T, XM_017001289.1:c.1879C>G, XM_017001291.2:c.1849C>T, XM_017001291.2:c.1849C>G, XM_017001291.1:c.1849C>T, XM_017001291.1:c.1849C>G, XM_005245153.2:c.1906C>T, XM_005245153.2:c.1906C>G, XM_005245153.1:c.1906C>T, XM_005245153.1:c.1906C>G, XM_017001292.2:c.1783C>T, XM_017001292.2:c.1783C>G, XM_017001292.1:c.1783C>T, XM_017001292.1:c.1783C>G, XM_005245157.2:c.1810C>T, XM_005245157.2:c.1810C>G, XM_005245157.1:c.1810C>T, XM_005245157.1:c.1810C>G, XM_017001294.2:c.1810C>T, XM_017001294.2:c.1810C>G, XM_017001294.1:c.1810C>T, XM_017001294.1:c.1810C>G, XM_017001293.2:c.1738C>T, XM_017001293.2:c.1738C>G, XM_017001293.1:c.1738C>T, XM_017001293.1:c.1738C>G, XM_017001295.2:c.1795C>T, XM_017001295.2:c.1795C>G, XM_017001295.1:c.1795C>T, XM_017001295.1:c.1795C>G, XM_017001296.2:c.1765C>T, XM_017001296.2:c.1765C>G, XM_017001296.1:c.1765C>T, XM_017001296.1:c.1765C>G, XM_047420709.1:c.1915C>T, XM_047420709.1:c.1915C>G, XM_047420712.1:c.1873C>T, XM_047420712.1:c.1873C>G, XM_047420743.1:c.1873C>T, XM_047420743.1:c.1873C>G, XM_047420713.1:c.1870C>T, XM_047420713.1:c.1870C>G, XM_047420692.1:c.1879C>T, XM_047420692.1:c.1879C>G, XM_047420711.1:c.1906C>T, XM_047420711.1:c.1906C>G, XM_047420694.1:c.1834C>T, XM_047420694.1:c.1834C>G, XM_047420697.1:c.1834C>T, XM_047420697.1:c.1834C>G, XM_047420715.1:c.1861C>T, XM_047420715.1:c.1861C>G, XM_047420716.1:c.1861C>T, XM_047420716.1:c.1861C>G, XM_047420700.1:c.1783C>T, XM_047420700.1:c.1783C>G, XM_047420701.1:c.1738C>T, XM_047420701.1:c.1738C>G, XM_047420719.1:c.1795C>T, XM_047420719.1:c.1795C>G, XM_047420727.1:c.1765C>T, XM_047420727.1:c.1765C>G, XM_047420734.1:c.1750C>T, XM_047420734.1:c.1750C>G, XM_047420740.1:c.1750C>T, XM_047420740.1:c.1750C>G, NP_001659.1:p.Pro641Ser, NP_001659.1:p.Pro641Ala, NP_848514.1:p.Pro626Ser, NP_848514.1:p.Pro626Ala, NP_001272964.1:p.Pro627Ser, NP_001272964.1:p.Pro627Ala, NP_001337153.1:p.Pro632Ser, NP_001337153.1:p.Pro632Ala, NP_001337154.1:p.Pro640Ser, NP_001337154.1:p.Pro640Ala, NP_001337155.1:p.Pro639Ser, NP_001337155.1:p.Pro639Ala, NP_001272965.1:p.Pro639Ser, NP_001272965.1:p.Pro639Ala, NP_001184254.1:p.Pro626Ser, NP_001184254.1:p.Pro626Ala, XP_011507845.1:p.Pro640Ser, XP_011507845.1:p.Pro640Ala, XP_016856777.1:p.Pro632Ser, XP_016856777.1:p.Pro632Ala, XP_005245208.1:p.Pro641Ser, XP_005245208.1:p.Pro641Ala, XP_016856779.1:p.Pro617Ser, XP_016856779.1:p.Pro617Ala, XP_011507848.1:p.Pro609Ser, XP_011507848.1:p.Pro609Ala, XP_016856778.1:p.Pro627Ser, XP_016856778.1:p.Pro627Ala, XP_016856780.1:p.Pro617Ser, XP_016856780.1:p.Pro617Ala, XP_005245210.1:p.Pro636Ser, XP_005245210.1:p.Pro636Ala, XP_016856781.1:p.Pro595Ser, XP_016856781.1:p.Pro595Ala, XP_005245214.1:p.Pro604Ser, XP_005245214.1:p.Pro604Ala, XP_016856783.1:p.Pro604Ser, XP_016856783.1:p.Pro604Ala, XP_016856782.1:p.Pro580Ser, XP_016856782.1:p.Pro580Ala, XP_016856784.1:p.Pro599Ser, XP_016856784.1:p.Pro599Ala, XP_016856785.1:p.Pro589Ser, XP_016856785.1:p.Pro589Ala, XP_047276665.1:p.Pro639Ser, XP_047276665.1:p.Pro639Ala, XP_047276668.1:p.Pro625Ser, XP_047276668.1:p.Pro625Ala, XP_047276699.1:p.Pro625Ser, XP_047276699.1:p.Pro625Ala, XP_047276669.1:p.Pro624Ser, XP_047276669.1:p.Pro624Ala, XP_047276648.1:p.Pro627Ser, XP_047276648.1:p.Pro627Ala, XP_047276667.1:p.Pro636Ser, XP_047276667.1:p.Pro636Ala, XP_047276650.1:p.Pro612Ser, XP_047276650.1:p.Pro612Ala, XP_047276653.1:p.Pro612Ser, XP_047276653.1:p.Pro612Ala, XP_047276671.1:p.Pro621Ser, XP_047276671.1:p.Pro621Ala, XP_047276672.1:p.Pro621Ser, XP_047276672.1:p.Pro621Ala, XP_047276656.1:p.Pro595Ser, XP_047276656.1:p.Pro595Ala, XP_047276657.1:p.Pro580Ser, XP_047276657.1:p.Pro580Ala, XP_047276675.1:p.Pro599Ser, XP_047276675.1:p.Pro599Ala, XP_047276683.1:p.Pro589Ser, XP_047276683.1:p.Pro589Ala, XP_047276690.1:p.Pro584Ser, XP_047276690.1:p.Pro584Ala, XP_047276696.1:p.Pro584Ser, XP_047276696.1:p.Pro584Ala

                                    18.

                                    rs1473453633 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      1:150816402 (GRCh38)
                                      1:150788878 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:150816401:T:C
                                      Gene:
                                      ARNT (Varview)
                                      Functional Consequence:
                                      missense_variant,splice_acceptor_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      C=0.000011/3 (TOPMED)
                                      HGVS:
                                      NC_000001.11:g.150816402T>C, NC_000001.10:g.150788878T>C, NG_028248.1:g.65367A>G, NM_001668.4:c.1807A>G, NM_001668.3:c.1807A>G, NM_178427.3:c.1762A>G, NM_178427.2:c.1762A>G, NM_001286035.2:c.1765A>G, NM_001286035.1:c.1765A>G, NM_001350224.2:c.1780A>G, NM_001350224.1:c.1780A>G, NM_001350225.2:c.1804A>G, NM_001350225.1:c.1804A>G, NM_001350226.2:c.1801A>G, NM_001350226.1:c.1801A>G, NM_001197325.2:c.1762A>G, NM_001197325.1:c.1762A>G, XM_011509543.4:c.1804A>G, XM_011509543.3:c.1804A>G, XM_011509543.2:c.1804A>G, XM_011509543.1:c.1804A>G, XM_017001288.3:c.1780A>G, XM_017001288.2:c.1780A>G, XM_017001288.1:c.1780A>G, XM_005245151.3:c.1807A>G, XM_005245151.2:c.1807A>G, XM_005245151.1:c.1807A>G, XM_017001290.3:c.1735A>G, XM_017001290.2:c.1735A>G, XM_017001290.1:c.1735A>G, XM_011509546.3:c.1711A>G, XM_011509546.2:c.1711A>G, XM_011509546.1:c.1711A>G, XM_017001289.2:c.1765A>G, XM_017001289.1:c.1765A>G, XM_017001291.2:c.1735A>G, XM_017001291.1:c.1735A>G, XM_005245153.2:c.1792A>G, XM_005245153.1:c.1792A>G, XM_017001292.2:c.1669A>G, XM_017001292.1:c.1669A>G, XM_005245157.2:c.1696A>G, XM_005245157.1:c.1696A>G, XM_017001294.2:c.1696A>G, XM_017001294.1:c.1696A>G, XM_017001293.2:c.1624A>G, XM_017001293.1:c.1624A>G, XM_017001295.2:c.1681A>G, XM_017001295.1:c.1681A>G, XM_017001296.2:c.1651A>G, XM_017001296.1:c.1651A>G, XM_047420709.1:c.1801A>G, XM_047420712.1:c.1759A>G, XM_047420743.1:c.1759A>G, XM_047420713.1:c.1756A>G, XM_047420692.1:c.1765A>G, XM_047420711.1:c.1792A>G, XM_047420694.1:c.1720A>G, XM_047420697.1:c.1720A>G, XM_047420715.1:c.1747A>G, XM_047420716.1:c.1747A>G, XM_047420700.1:c.1669A>G, XM_047420701.1:c.1624A>G, XM_047420719.1:c.1681A>G, XM_047420727.1:c.1651A>G, XM_047420734.1:c.1636A>G, XM_047420740.1:c.1636A>G, NP_001659.1:p.Ser603Gly, NP_848514.1:p.Ser588Gly, NP_001272964.1:p.Ser589Gly, NP_001337153.1:p.Ser594Gly, NP_001337154.1:p.Ser602Gly, NP_001337155.1:p.Ser601Gly, NP_001184254.1:p.Ser588Gly, XP_011507845.1:p.Ser602Gly, XP_016856777.1:p.Ser594Gly, XP_005245208.1:p.Ser603Gly, XP_016856779.1:p.Ser579Gly, XP_011507848.1:p.Ser571Gly, XP_016856778.1:p.Ser589Gly, XP_016856780.1:p.Ser579Gly, XP_005245210.1:p.Ser598Gly, XP_016856781.1:p.Ser557Gly, XP_005245214.1:p.Ser566Gly, XP_016856783.1:p.Ser566Gly, XP_016856782.1:p.Ser542Gly, XP_016856784.1:p.Ser561Gly, XP_016856785.1:p.Ser551Gly, XP_047276665.1:p.Ser601Gly, XP_047276668.1:p.Ser587Gly, XP_047276699.1:p.Ser587Gly, XP_047276669.1:p.Ser586Gly, XP_047276648.1:p.Ser589Gly, XP_047276667.1:p.Ser598Gly, XP_047276650.1:p.Ser574Gly, XP_047276653.1:p.Ser574Gly, XP_047276671.1:p.Ser583Gly, XP_047276672.1:p.Ser583Gly, XP_047276656.1:p.Ser557Gly, XP_047276657.1:p.Ser542Gly, XP_047276675.1:p.Ser561Gly, XP_047276683.1:p.Ser551Gly, XP_047276690.1:p.Ser546Gly, XP_047276696.1:p.Ser546Gly

                                      19.

                                      rs1470920807 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        1:150831833 (GRCh38)
                                        1:150804309 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:150831832:C:T
                                        Gene:
                                        ARNT (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.150831833C>T, NC_000001.10:g.150804309C>T, NG_028248.1:g.49936G>A, NM_001668.4:c.940G>A, NM_001668.3:c.940G>A, NM_178427.3:c.895G>A, NM_178427.2:c.895G>A, NM_001286035.2:c.913G>A, NM_001286035.1:c.913G>A, NM_001350224.2:c.913G>A, NM_001350224.1:c.913G>A, NM_001350225.2:c.937G>A, NM_001350225.1:c.937G>A, NM_001350226.2:c.934G>A, NM_001350226.1:c.934G>A, NM_001286036.2:c.940G>A, NM_001286036.1:c.940G>A, NM_001197325.2:c.895G>A, NM_001197325.1:c.895G>A, XM_011509543.4:c.937G>A, XM_011509543.3:c.937G>A, XM_011509543.2:c.937G>A, XM_011509543.1:c.937G>A, XM_017001288.3:c.913G>A, XM_017001288.2:c.913G>A, XM_017001288.1:c.913G>A, XM_005245151.3:c.940G>A, XM_005245151.2:c.940G>A, XM_005245151.1:c.940G>A, XM_017001290.3:c.868G>A, XM_017001290.2:c.868G>A, XM_017001290.1:c.868G>A, XM_011509546.3:c.844G>A, XM_011509546.2:c.844G>A, XM_011509546.1:c.844G>A, XM_017001289.2:c.913G>A, XM_017001289.1:c.913G>A, XM_017001291.2:c.868G>A, XM_017001291.1:c.868G>A, XM_005245153.2:c.940G>A, XM_005245153.1:c.940G>A, XM_017001292.2:c.913G>A, XM_017001292.1:c.913G>A, XM_005245157.2:c.940G>A, XM_005245157.1:c.940G>A, XM_017001294.2:c.940G>A, XM_017001294.1:c.940G>A, XM_017001293.2:c.868G>A, XM_017001293.1:c.868G>A, XM_017001295.2:c.940G>A, XM_017001295.1:c.940G>A, XM_017001296.2:c.895G>A, XM_017001296.1:c.895G>A, XM_047420709.1:c.934G>A, XM_047420712.1:c.892G>A, XM_047420743.1:c.892G>A, XM_047420713.1:c.889G>A, XM_047420692.1:c.913G>A, XM_047420711.1:c.940G>A, XM_047420694.1:c.868G>A, XM_047420697.1:c.868G>A, XM_047420715.1:c.895G>A, XM_047420716.1:c.895G>A, XM_047420700.1:c.913G>A, XM_047420701.1:c.868G>A, XM_047420719.1:c.940G>A, XM_047420727.1:c.895G>A, XM_047420734.1:c.895G>A, XM_047420740.1:c.895G>A, NM_178426.1:c.940G>A, NP_001659.1:p.Ala314Thr, NP_848514.1:p.Ala299Thr, NP_001272964.1:p.Ala305Thr, NP_001337153.1:p.Ala305Thr, NP_001337154.1:p.Ala313Thr, NP_001337155.1:p.Ala312Thr, NP_001272965.1:p.Ala314Thr, NP_001184254.1:p.Ala299Thr, XP_011507845.1:p.Ala313Thr, XP_016856777.1:p.Ala305Thr, XP_005245208.1:p.Ala314Thr, XP_016856779.1:p.Ala290Thr, XP_011507848.1:p.Ala282Thr, XP_016856778.1:p.Ala305Thr, XP_016856780.1:p.Ala290Thr, XP_005245210.1:p.Ala314Thr, XP_016856781.1:p.Ala305Thr, XP_005245214.1:p.Ala314Thr, XP_016856783.1:p.Ala314Thr, XP_016856782.1:p.Ala290Thr, XP_016856784.1:p.Ala314Thr, XP_016856785.1:p.Ala299Thr, XP_047276665.1:p.Ala312Thr, XP_047276668.1:p.Ala298Thr, XP_047276699.1:p.Ala298Thr, XP_047276669.1:p.Ala297Thr, XP_047276648.1:p.Ala305Thr, XP_047276667.1:p.Ala314Thr, XP_047276650.1:p.Ala290Thr, XP_047276653.1:p.Ala290Thr, XP_047276671.1:p.Ala299Thr, XP_047276672.1:p.Ala299Thr, XP_047276656.1:p.Ala305Thr, XP_047276657.1:p.Ala290Thr, XP_047276675.1:p.Ala314Thr, XP_047276683.1:p.Ala299Thr, XP_047276690.1:p.Ala299Thr, XP_047276696.1:p.Ala299Thr

                                        20.

                                        rs1470838339 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          CAG>- [Show Flanks]
                                          Chromosome:
                                          1:150813183 (GRCh38)
                                          1:150785659 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:150813182:CAG:
                                          Gene:
                                          ARNT (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,inframe_indel
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          -=0./0 (ALFA)
                                          -=0.000042/11 (TOPMED)
                                          -=0.00005/7 (GnomAD)
                                          HGVS:
                                          NC_000001.11:g.150813183_150813185del, NC_000001.10:g.150785659_150785661del, NG_028248.1:g.68584_68586del, NM_001668.4:c.2267_2269del, NM_001668.3:c.2267_2269del, NM_178427.3:c.2222_2224del, NM_178427.2:c.2222_2224del, NM_001286035.2:c.2225_2227del, NM_001286035.1:c.2225_2227del, NM_001350224.2:c.2240_2242del, NM_001350224.1:c.2240_2242del, NM_001350225.2:c.2264_2266del, NM_001350225.1:c.2264_2266del, NM_001350226.2:c.2261_2263del, NM_001350226.1:c.2261_2263del, NM_001286036.2:c.2261_2263del, NM_001286036.1:c.2261_2263del, NM_001197325.2:c.2219_2221del, NM_001197325.1:c.2219_2221del, NG_011848.1:g.152_154del, XM_011509543.4:c.2264_2266del, XM_011509543.3:c.2264_2266del, XM_011509543.2:c.2264_2266del, XM_011509543.1:c.2264_2266del, XM_017001288.3:c.2237_2239del, XM_017001288.2:c.2237_2239del, XM_017001288.1:c.2237_2239del, XM_005245151.3:c.2264_2266del, XM_005245151.2:c.2264_2266del, XM_005245151.1:c.2264_2266del, XM_017001290.3:c.2195_2197del, XM_017001290.2:c.2195_2197del, XM_017001290.1:c.2195_2197del, XM_011509546.3:c.2171_2173del, XM_011509546.2:c.2171_2173del, XM_011509546.1:c.2171_2173del, XM_017001289.2:c.2225_2227del, XM_017001289.1:c.2225_2227del, XM_017001291.2:c.2192_2194del, XM_017001291.1:c.2192_2194del, XM_005245153.2:c.2252_2254del, XM_005245153.1:c.2252_2254del, XM_017001292.2:c.2129_2131del, XM_017001292.1:c.2129_2131del, XM_005245157.2:c.2156_2158del, XM_005245157.1:c.2156_2158del, XM_017001294.2:c.2153_2155del, XM_017001294.1:c.2153_2155del, XM_017001293.2:c.2081_2083del, XM_017001293.1:c.2081_2083del, XM_017001295.2:c.2141_2143del, XM_017001295.1:c.2141_2143del, XM_017001296.2:c.2111_2113del, XM_017001296.1:c.2111_2113del, XM_047420709.1:c.2261_2263del, XM_047420712.1:c.2219_2221del, XM_047420743.1:c.2216_2218del, XM_047420713.1:c.2213_2215del, XM_047420692.1:c.2222_2224del, XM_047420711.1:c.2249_2251del, XM_047420694.1:c.2180_2182del, XM_047420697.1:c.2177_2179del, XM_047420715.1:c.2207_2209del, XM_047420716.1:c.2204_2206del, XM_047420700.1:c.2126_2128del, XM_047420701.1:c.2084_2086del, XM_047420719.1:c.2138_2140del, XM_047420727.1:c.2108_2110del, XM_047420734.1:c.2096_2098del, XM_047420740.1:c.2093_2095del, NM_178426.1:c.984_986del, NP_001659.1:p.Pro756_Glu757delinsGln, NP_848514.1:p.Pro741_Glu742delinsGln, NP_001272964.1:p.Pro742_Glu743delinsGln, NP_001337153.1:p.Pro747_Glu748delinsGln, NP_001337154.1:p.Pro755_Glu756delinsGln, NP_001337155.1:p.Pro754_Glu755delinsGln, NP_001272965.1:p.Pro754_Glu755delinsGln, NP_001184254.1:p.Pro740_Glu741delinsGln, XP_011507845.1:p.Pro755_Glu756delinsGln, XP_016856777.1:p.Pro746_Glu747delinsGln, XP_005245208.1:p.Pro755_Glu756delinsGln, XP_016856779.1:p.Pro732_Glu733delinsGln, XP_011507848.1:p.Pro724_Glu725delinsGln, XP_016856778.1:p.Pro742_Glu743delinsGln, XP_016856780.1:p.Pro731_Glu732delinsGln, XP_005245210.1:p.Pro751_Glu752delinsGln, XP_016856781.1:p.Pro710_Glu711delinsGln, XP_005245214.1:p.Pro719_Glu720delinsGln, XP_016856783.1:p.Pro718_Glu719delinsGln, XP_016856782.1:p.Pro694_Glu695delinsGln, XP_016856784.1:p.Pro714_Glu715delinsGln, XP_016856785.1:p.Pro704_Glu705delinsGln, XP_047276665.1:p.Pro754_Glu755delinsGln, XP_047276668.1:p.Pro740_Glu741delinsGln, XP_047276699.1:p.Pro739_Glu740delinsGln, XP_047276669.1:p.Pro738_Glu739delinsGln, XP_047276648.1:p.Pro741_Glu742delinsGln, XP_047276667.1:p.Pro750_Glu751delinsGln, XP_047276650.1:p.Pro727_Glu728delinsGln, XP_047276653.1:p.Pro726_Glu727delinsGln, XP_047276671.1:p.Pro736_Glu737delinsGln, XP_047276672.1:p.Pro735_Glu736delinsGln, XP_047276656.1:p.Pro709_Glu710delinsGln, XP_047276657.1:p.Pro695_Glu696delinsGln, XP_047276675.1:p.Pro713_Glu714delinsGln, XP_047276683.1:p.Pro703_Glu704delinsGln, XP_047276690.1:p.Pro699_Glu700delinsGln, XP_047276696.1:p.Pro698_Glu699delinsGln

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