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Items: 1 to 20 of 1033

1.

rs1490043838 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    17:78125193 (GRCh38)
    17:76121274 (GRCh37)
    Canonical SPDI:
    NC_000017.11:78125192:C:A
    Gene:
    TMC6 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0.000071/1 (ALFA)
    A=0.000008/2 (TOPMED)
    HGVS:
    NC_000017.11:g.78125193C>A, NC_000017.10:g.76121274C>A, NG_007879.1:g.12215G>T, NM_007267.7:c.501G>T, NM_007267.6:c.501G>T, NM_001127198.5:c.501G>T, NM_001127198.4:c.501G>T, NM_001127198.3:c.501G>T, NM_001127198.2:c.501G>T, NM_001127198.1:c.501G>T, NM_001374593.1:c.501G>T, NM_001374594.1:c.501G>T, NM_001375354.1:c.501G>T, NM_001375353.1:c.501G>T, NM_001321185.1:c.501G>T, XM_011524257.4:c.-87G>T, XM_011524257.3:c.-87G>T, XM_011524257.2:c.-87G>T, XM_011524257.1:c.-87G>T, XM_024450556.2:c.501G>T, XM_024450556.1:c.501G>T, XM_011524256.2:c.501G>T, XM_011524256.1:c.501G>T, XM_047435257.1:c.501G>T, XM_047435272.1:c.501G>T, XM_047435256.1:c.501G>T, XM_047435276.1:c.501G>T, XM_047435254.1:c.501G>T, XM_047435263.1:c.501G>T, XM_047435270.1:c.501G>T, XM_047435275.1:c.501G>T, XM_047435251.1:c.501G>T, XM_047435252.1:c.501G>T, XM_047435255.1:c.501G>T, NR_168289.1:n.719G>T, XM_047435250.1:c.501G>T, XM_047435253.1:c.501G>T, XM_047435261.1:c.501G>T, NR_168290.1:n.719G>T, XM_047435266.1:c.501G>T, XM_047435268.1:c.501G>T, XM_047435258.1:c.501G>T, XM_047435259.1:c.501G>T, NM_001374596.1:c.501G>T, XM_047435267.1:c.501G>T, XM_047435264.1:c.501G>T, XM_047435260.1:c.501G>T, XM_047435265.1:c.501G>T, XM_047435269.1:c.501G>T, XM_047435273.1:c.501G>T, XM_047435274.1:c.501G>T, NR_168288.1:n.719G>T, NR_168291.1:n.672G>T, XM_047435271.1:c.501G>T, XM_047435277.1:c.501G>T, XM_047435278.1:c.501G>T

    2.

    rs1489137879 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      17:78124962 (GRCh38)
      17:76121043 (GRCh37)
      Canonical SPDI:
      NC_000017.11:78124961:C:T
      Gene:
      TMC6 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      T=0.000009/2 (GnomAD_exomes)
      HGVS:
      NC_000017.11:g.78124962C>T, NC_000017.10:g.76121043C>T, NG_007879.1:g.12446G>A, NM_007267.7:c.560G>A, NM_007267.6:c.560G>A, NM_001127198.5:c.560G>A, NM_001127198.4:c.560G>A, NM_001127198.3:c.560G>A, NM_001127198.2:c.560G>A, NM_001127198.1:c.560G>A, NM_001374593.1:c.560G>A, NM_001374594.1:c.560G>A, NM_001375354.1:c.560G>A, NM_001375353.1:c.560G>A, NM_001321185.1:c.560G>A, XM_024450556.2:c.560G>A, XM_024450556.1:c.560G>A, XM_011524256.2:c.560G>A, XM_011524256.1:c.560G>A, XM_047435257.1:c.560G>A, XM_047435272.1:c.560G>A, XM_047435256.1:c.560G>A, XM_047435276.1:c.560G>A, XM_047435254.1:c.560G>A, XM_047435263.1:c.560G>A, XM_047435270.1:c.560G>A, XM_047435275.1:c.560G>A, XM_047435251.1:c.560G>A, XM_047435252.1:c.560G>A, XM_047435255.1:c.560G>A, NR_168289.1:n.778G>A, XM_047435250.1:c.560G>A, XM_047435253.1:c.560G>A, XM_047435261.1:c.560G>A, XM_047435266.1:c.560G>A, XM_047435268.1:c.560G>A, XM_047435258.1:c.560G>A, XM_047435259.1:c.560G>A, NM_001374596.1:c.560G>A, XM_047435267.1:c.560G>A, XM_047435264.1:c.560G>A, XM_047435260.1:c.560G>A, XM_047435265.1:c.560G>A, XM_047435269.1:c.560G>A, XM_047435273.1:c.560G>A, XM_047435274.1:c.560G>A, NR_168288.1:n.778G>A, NR_168291.1:n.731G>A, XM_047435271.1:c.560G>A, XM_047435277.1:c.560G>A, XM_047435278.1:c.560G>A, NP_009198.4:p.Gly187Glu, NP_001120670.1:p.Gly187Glu, NP_001361522.1:p.Gly187Glu, NP_001361523.1:p.Gly187Glu, NP_001362283.1:p.Gly187Glu, NP_001362282.1:p.Gly187Glu, NP_001308114.1:p.Gly187Glu, XP_024306324.1:p.Gly187Glu, XP_011522558.1:p.Gly187Glu, XP_047291213.1:p.Gly187Glu, XP_047291228.1:p.Gly187Glu, XP_047291212.1:p.Gly187Glu, XP_047291232.1:p.Gly187Glu, XP_047291210.1:p.Gly187Glu, XP_047291219.1:p.Gly187Glu, XP_047291226.1:p.Gly187Glu, XP_047291231.1:p.Gly187Glu, XP_047291207.1:p.Gly187Glu, XP_047291208.1:p.Gly187Glu, XP_047291211.1:p.Gly187Glu, XP_047291206.1:p.Gly187Glu, XP_047291209.1:p.Gly187Glu, XP_047291217.1:p.Gly187Glu, XP_047291222.1:p.Gly187Glu, XP_047291224.1:p.Gly187Glu, XP_047291214.1:p.Gly187Glu, XP_047291215.1:p.Gly187Glu, NP_001361525.1:p.Gly187Glu, XP_047291223.1:p.Gly187Glu, XP_047291220.1:p.Gly187Glu, XP_047291216.1:p.Gly187Glu, XP_047291221.1:p.Gly187Glu, XP_047291225.1:p.Gly187Glu, XP_047291229.1:p.Gly187Glu, XP_047291230.1:p.Gly187Glu, XP_047291227.1:p.Gly187Glu, XP_047291233.1:p.Gly187Glu, XP_047291234.1:p.Gly187Glu

      3.

      rs1488714678 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->G [Show Flanks]
        Chromosome:
        17:78121124 (GRCh38)
        17:76117206 (GRCh37)
        Canonical SPDI:
        NC_000017.11:78121124:GG:GGG
        Gene:
        TMC6 (Varview)
        Functional Consequence:
        frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        GGG=0./0 (ALFA)
        HGVS:
        NC_000017.11:g.78121126dup, NC_000017.10:g.76117207dup, NG_007879.1:g.16283dup, NM_007267.7:c.1423dup, NM_007267.6:c.1423dup, NM_001127198.5:c.1423dup, NM_001127198.4:c.1423dup, NM_001127198.3:c.1423dup, NM_001127198.2:c.1423dup, NM_001127198.1:c.1423dup, NM_001374593.1:c.1423dup, NM_001374594.1:c.1423dup, NM_001375354.1:c.1423dup, NM_001375353.1:c.1423dup, NM_001321185.1:c.1423dup, XM_011524257.4:c.613dup, XM_011524257.3:c.613dup, XM_011524257.2:c.613dup, XM_011524257.1:c.613dup, XM_024450556.2:c.1423dup, XM_024450556.1:c.1423dup, XM_011524256.2:c.1297dup, XM_011524256.1:c.1297dup, XM_047435257.1:c.1297dup, XM_047435272.1:c.1297dup, XM_047435256.1:c.1423dup, XM_047435254.1:c.1423dup, XM_047435263.1:c.1297dup, XM_047435270.1:c.1423dup, XM_047435275.1:c.1297dup, XM_047435251.1:c.1423dup, XM_047435252.1:c.1423dup, XM_047435255.1:c.1423dup, NR_168289.1:n.1641dup, XM_047435250.1:c.1423dup, XM_047435253.1:c.1423dup, XM_047435261.1:c.1297dup, NR_168290.1:n.1544dup, XM_047435266.1:c.1423dup, XM_047435268.1:c.1423dup, XM_047435258.1:c.1297dup, XM_047435259.1:c.1297dup, NM_001374596.1:c.1423dup, XM_047435267.1:c.1423dup, XM_047435264.1:c.1423dup, XM_047435260.1:c.1297dup, XM_047435265.1:c.1423dup, XM_047435269.1:c.1423dup, XM_047435273.1:c.1297dup, XM_047435274.1:c.1297dup, NR_168288.1:n.1641dup, NR_168291.1:n.1594dup, XM_047435271.1:c.1423dup, NP_009198.4:p.Leu475fs, NP_001120670.1:p.Leu475fs, NP_001361522.1:p.Leu475fs, NP_001361523.1:p.Leu475fs, NP_001362283.1:p.Leu475fs, NP_001362282.1:p.Leu475fs, NP_001308114.1:p.Leu475fs, XP_011522559.1:p.Leu205fs, XP_024306324.1:p.Leu475fs, XP_011522558.1:p.Leu433fs, XP_047291213.1:p.Leu433fs, XP_047291228.1:p.Leu433fs, XP_047291212.1:p.Leu475fs, XP_047291210.1:p.Leu475fs, XP_047291219.1:p.Leu433fs, XP_047291226.1:p.Leu475fs, XP_047291231.1:p.Leu433fs, XP_047291207.1:p.Leu475fs, XP_047291208.1:p.Leu475fs, XP_047291211.1:p.Leu475fs, XP_047291206.1:p.Leu475fs, XP_047291209.1:p.Leu475fs, XP_047291217.1:p.Leu433fs, XP_047291222.1:p.Leu475fs, XP_047291224.1:p.Leu475fs, XP_047291214.1:p.Leu433fs, XP_047291215.1:p.Leu433fs, NP_001361525.1:p.Leu475fs, XP_047291223.1:p.Leu475fs, XP_047291220.1:p.Leu475fs, XP_047291216.1:p.Leu433fs, XP_047291221.1:p.Leu475fs, XP_047291225.1:p.Leu475fs, XP_047291229.1:p.Leu433fs, XP_047291230.1:p.Leu433fs, XP_047291227.1:p.Leu475fs

        4.

        rs1488404742 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          GCAG>- [Show Flanks]
          Chromosome:
          17:78121687 (GRCh38)
          17:76117768 (GRCh37)
          Canonical SPDI:
          NC_000017.11:78121686:GCAG:
          Gene:
          TMC6 (Varview)
          Functional Consequence:
          frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
          Validated:
          by frequency,by cluster
          MAF:
          -=0.00376/41 (GoESP)
          HGVS:
          NC_000017.11:g.78121687_78121690del, NC_000017.10:g.76117768_76117771del, NG_007879.1:g.15718_15721del, NM_007267.7:c.1249_1252del, NM_007267.6:c.1249_1252del, NM_001127198.5:c.1249_1252del, NM_001127198.4:c.1249_1252del, NM_001127198.3:c.1249_1252del, NM_001127198.2:c.1249_1252del, NM_001127198.1:c.1249_1252del, NM_001374593.1:c.1249_1252del, NM_001374594.1:c.1249_1252del, NM_001375354.1:c.1249_1252del, NM_001375353.1:c.1249_1252del, NM_001321185.1:c.1249_1252del, XM_011524257.4:c.439_442del, XM_011524257.3:c.439_442del, XM_011524257.2:c.439_442del, XM_011524257.1:c.439_442del, XM_024450556.2:c.1249_1252del, XM_024450556.1:c.1249_1252del, XM_011524256.2:c.1123_1126del, XM_011524256.1:c.1123_1126del, XM_047435257.1:c.1123_1126del, XM_047435272.1:c.1123_1126del, XM_047435256.1:c.1249_1252del, XM_047435254.1:c.1249_1252del, XM_047435263.1:c.1123_1126del, XM_047435270.1:c.1249_1252del, XM_047435275.1:c.1123_1126del, XM_047435251.1:c.1249_1252del, XM_047435252.1:c.1249_1252del, XM_047435255.1:c.1249_1252del, NR_168289.1:n.1467_1470del, XM_047435250.1:c.1249_1252del, XM_047435253.1:c.1249_1252del, XM_047435261.1:c.1123_1126del, NR_168290.1:n.1370_1373del, XM_047435266.1:c.1249_1252del, XM_047435268.1:c.1249_1252del, XM_047435258.1:c.1123_1126del, XM_047435259.1:c.1123_1126del, NM_001374596.1:c.1249_1252del, XM_047435267.1:c.1249_1252del, XM_047435264.1:c.1249_1252del, XM_047435260.1:c.1123_1126del, XM_047435265.1:c.1249_1252del, XM_047435269.1:c.1249_1252del, XM_047435273.1:c.1123_1126del, XM_047435274.1:c.1123_1126del, NR_168288.1:n.1467_1470del, NR_168291.1:n.1420_1423del, XM_047435271.1:c.1249_1252del, NP_009198.4:p.Leu417fs, NP_001120670.1:p.Leu417fs, NP_001361522.1:p.Leu417fs, NP_001361523.1:p.Leu417fs, NP_001362283.1:p.Leu417fs, NP_001362282.1:p.Leu417fs, NP_001308114.1:p.Leu417fs, XP_011522559.1:p.Leu147fs, XP_024306324.1:p.Leu417fs, XP_011522558.1:p.Leu375fs, XP_047291213.1:p.Leu375fs, XP_047291228.1:p.Leu375fs, XP_047291212.1:p.Leu417fs, XP_047291210.1:p.Leu417fs, XP_047291219.1:p.Leu375fs, XP_047291226.1:p.Leu417fs, XP_047291231.1:p.Leu375fs, XP_047291207.1:p.Leu417fs, XP_047291208.1:p.Leu417fs, XP_047291211.1:p.Leu417fs, XP_047291206.1:p.Leu417fs, XP_047291209.1:p.Leu417fs, XP_047291217.1:p.Leu375fs, XP_047291222.1:p.Leu417fs, XP_047291224.1:p.Leu417fs, XP_047291214.1:p.Leu375fs, XP_047291215.1:p.Leu375fs, NP_001361525.1:p.Leu417fs, XP_047291223.1:p.Leu417fs, XP_047291220.1:p.Leu417fs, XP_047291216.1:p.Leu375fs, XP_047291221.1:p.Leu417fs, XP_047291225.1:p.Leu417fs, XP_047291229.1:p.Leu375fs, XP_047291230.1:p.Leu375fs, XP_047291227.1:p.Leu417fs

          5.

          rs1487736865 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            17:78120718 (GRCh38)
            17:76116799 (GRCh37)
            Canonical SPDI:
            NC_000017.11:78120717:G:A
            Gene:
            TMC6 (Varview)
            Functional Consequence:
            synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000008/2 (TOPMED)
            A=0.000014/2 (GnomAD)
            HGVS:
            NC_000017.11:g.78120718G>A, NC_000017.10:g.76116799G>A, NG_007879.1:g.16690C>T, NM_007267.7:c.1650C>T, NM_007267.6:c.1650C>T, NM_001127198.5:c.1650C>T, NM_001127198.4:c.1650C>T, NM_001127198.3:c.1650C>T, NM_001127198.2:c.1650C>T, NM_001127198.1:c.1650C>T, NM_001375354.1:c.1650C>T, NM_001375353.1:c.1650C>T, NM_001321185.1:c.1650C>T, XM_011524257.4:c.840C>T, XM_011524257.3:c.840C>T, XM_011524257.2:c.840C>T, XM_011524257.1:c.840C>T, XM_024450556.2:c.1650C>T, XM_024450556.1:c.1650C>T, XM_011524256.2:c.1524C>T, XM_011524256.1:c.1524C>T, XM_047435257.1:c.1524C>T, XM_047435256.1:c.1650C>T, XM_047435254.1:c.1650C>T, XM_047435263.1:c.1524C>T, XM_047435251.1:c.1650C>T, XM_047435252.1:c.1650C>T, XM_047435255.1:c.1650C>T, NR_168289.1:n.1868C>T, XM_047435250.1:c.1650C>T, XM_047435253.1:c.1650C>T, XM_047435261.1:c.1524C>T, NR_168290.1:n.1771C>T, XM_047435258.1:c.1524C>T, XM_047435259.1:c.1524C>T, NM_001374596.1:c.1650C>T, XM_047435260.1:c.1524C>T, NR_168288.1:n.1868C>T, NR_168291.1:n.1821C>T

            6.

            rs1487284138 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              17:78126782 (GRCh38)
              17:76122863 (GRCh37)
              Canonical SPDI:
              NC_000017.11:78126781:G:T
              Gene:
              TMC6 (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000011/3 (TOPMED)
              HGVS:
              NC_000017.11:g.78126782G>T, NC_000017.10:g.76122863G>T, NG_007879.1:g.10626C>A, NM_007267.7:c.51C>A, NM_007267.6:c.51C>A, NM_001127198.5:c.51C>A, NM_001127198.4:c.51C>A, NM_001127198.3:c.51C>A, NM_001127198.2:c.51C>A, NM_001127198.1:c.51C>A, NM_001374593.1:c.51C>A, NM_001374594.1:c.51C>A, NM_001375354.1:c.51C>A, NM_001375353.1:c.51C>A, NM_001321185.1:c.51C>A, NG_007881.1:g.1005G>T, XM_024450556.2:c.51C>A, XM_024450556.1:c.51C>A, XM_011524256.2:c.51C>A, XM_011524256.1:c.51C>A, XM_047435257.1:c.51C>A, XM_047435272.1:c.51C>A, XM_047435256.1:c.51C>A, XM_047435276.1:c.51C>A, XM_047435254.1:c.51C>A, XM_047435263.1:c.51C>A, XM_047435270.1:c.51C>A, XM_047435275.1:c.51C>A, XM_047435251.1:c.51C>A, XM_047435252.1:c.51C>A, XM_047435255.1:c.51C>A, NR_168289.1:n.269C>A, XM_047435250.1:c.51C>A, XM_047435253.1:c.51C>A, XM_047435261.1:c.51C>A, NR_168290.1:n.269C>A, XM_047435266.1:c.51C>A, XM_047435268.1:c.51C>A, XM_047435258.1:c.51C>A, XM_047435259.1:c.51C>A, NM_001374596.1:c.51C>A, XM_047435267.1:c.51C>A, XM_047435264.1:c.51C>A, XM_047435260.1:c.51C>A, XM_047435265.1:c.51C>A, XM_047435269.1:c.51C>A, XM_047435273.1:c.51C>A, XM_047435274.1:c.51C>A, NR_168288.1:n.269C>A, NR_168291.1:n.222C>A, XM_047435271.1:c.51C>A, XM_047435277.1:c.51C>A, XM_047435278.1:c.51C>A, NP_009198.4:p.Asp17Glu, NP_001120670.1:p.Asp17Glu, NP_001361522.1:p.Asp17Glu, NP_001361523.1:p.Asp17Glu, NP_001362283.1:p.Asp17Glu, NP_001362282.1:p.Asp17Glu, NP_001308114.1:p.Asp17Glu, XP_024306324.1:p.Asp17Glu, XP_011522558.1:p.Asp17Glu, XP_047291213.1:p.Asp17Glu, XP_047291228.1:p.Asp17Glu, XP_047291212.1:p.Asp17Glu, XP_047291232.1:p.Asp17Glu, XP_047291210.1:p.Asp17Glu, XP_047291219.1:p.Asp17Glu, XP_047291226.1:p.Asp17Glu, XP_047291231.1:p.Asp17Glu, XP_047291207.1:p.Asp17Glu, XP_047291208.1:p.Asp17Glu, XP_047291211.1:p.Asp17Glu, XP_047291206.1:p.Asp17Glu, XP_047291209.1:p.Asp17Glu, XP_047291217.1:p.Asp17Glu, XP_047291222.1:p.Asp17Glu, XP_047291224.1:p.Asp17Glu, XP_047291214.1:p.Asp17Glu, XP_047291215.1:p.Asp17Glu, NP_001361525.1:p.Asp17Glu, XP_047291223.1:p.Asp17Glu, XP_047291220.1:p.Asp17Glu, XP_047291216.1:p.Asp17Glu, XP_047291221.1:p.Asp17Glu, XP_047291225.1:p.Asp17Glu, XP_047291229.1:p.Asp17Glu, XP_047291230.1:p.Asp17Glu, XP_047291227.1:p.Asp17Glu, XP_047291233.1:p.Asp17Glu, XP_047291234.1:p.Asp17Glu

              7.

              rs1486543772 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                17:78125825 (GRCh38)
                17:76121906 (GRCh37)
                Canonical SPDI:
                NC_000017.11:78125824:T:C
                Gene:
                TMC6 (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0.00007/1 (ALFA)
                HGVS:
                NC_000017.11:g.78125825T>C, NC_000017.10:g.76121906T>C, NG_007879.1:g.11583A>G, NM_007267.7:c.331A>G, NM_007267.6:c.331A>G, NM_001127198.5:c.331A>G, NM_001127198.4:c.331A>G, NM_001127198.3:c.331A>G, NM_001127198.2:c.331A>G, NM_001127198.1:c.331A>G, NM_001374593.1:c.331A>G, NM_001374594.1:c.331A>G, NM_001375354.1:c.331A>G, NM_001375353.1:c.331A>G, NM_001321185.1:c.331A>G, NG_007881.1:g.48T>C, XM_024450556.2:c.331A>G, XM_024450556.1:c.331A>G, XM_011524256.2:c.331A>G, XM_011524256.1:c.331A>G, XM_047435257.1:c.331A>G, XM_047435272.1:c.331A>G, XM_047435256.1:c.331A>G, XM_047435276.1:c.331A>G, XM_047435254.1:c.331A>G, XM_047435263.1:c.331A>G, XM_047435270.1:c.331A>G, XM_047435275.1:c.331A>G, XM_047435251.1:c.331A>G, XM_047435252.1:c.331A>G, XM_047435255.1:c.331A>G, NR_168289.1:n.549A>G, XM_047435250.1:c.331A>G, XM_047435253.1:c.331A>G, XM_047435261.1:c.331A>G, NR_168290.1:n.549A>G, XM_047435266.1:c.331A>G, XM_047435268.1:c.331A>G, XM_047435258.1:c.331A>G, XM_047435259.1:c.331A>G, NM_001374596.1:c.331A>G, XM_047435267.1:c.331A>G, XM_047435264.1:c.331A>G, XM_047435260.1:c.331A>G, XM_047435265.1:c.331A>G, XM_047435269.1:c.331A>G, XM_047435273.1:c.331A>G, XM_047435274.1:c.331A>G, NR_168288.1:n.549A>G, NR_168291.1:n.502A>G, XM_047435271.1:c.331A>G, XM_047435277.1:c.331A>G, XM_047435278.1:c.331A>G, NP_009198.4:p.Arg111Gly, NP_001120670.1:p.Arg111Gly, NP_001361522.1:p.Arg111Gly, NP_001361523.1:p.Arg111Gly, NP_001362283.1:p.Arg111Gly, NP_001362282.1:p.Arg111Gly, NP_001308114.1:p.Arg111Gly, XP_024306324.1:p.Arg111Gly, XP_011522558.1:p.Arg111Gly, XP_047291213.1:p.Arg111Gly, XP_047291228.1:p.Arg111Gly, XP_047291212.1:p.Arg111Gly, XP_047291232.1:p.Arg111Gly, XP_047291210.1:p.Arg111Gly, XP_047291219.1:p.Arg111Gly, XP_047291226.1:p.Arg111Gly, XP_047291231.1:p.Arg111Gly, XP_047291207.1:p.Arg111Gly, XP_047291208.1:p.Arg111Gly, XP_047291211.1:p.Arg111Gly, XP_047291206.1:p.Arg111Gly, XP_047291209.1:p.Arg111Gly, XP_047291217.1:p.Arg111Gly, XP_047291222.1:p.Arg111Gly, XP_047291224.1:p.Arg111Gly, XP_047291214.1:p.Arg111Gly, XP_047291215.1:p.Arg111Gly, NP_001361525.1:p.Arg111Gly, XP_047291223.1:p.Arg111Gly, XP_047291220.1:p.Arg111Gly, XP_047291216.1:p.Arg111Gly, XP_047291221.1:p.Arg111Gly, XP_047291225.1:p.Arg111Gly, XP_047291229.1:p.Arg111Gly, XP_047291230.1:p.Arg111Gly, XP_047291227.1:p.Arg111Gly, XP_047291233.1:p.Arg111Gly, XP_047291234.1:p.Arg111Gly

                8.

                rs1485084245 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  17:78117626 (GRCh38)
                  17:76113707 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:78117625:G:A,NC_000017.11:78117625:G:C
                  Gene:
                  TMC6 (Varview)
                  Functional Consequence:
                  synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000011/2 (GnomAD_exomes)
                  HGVS:
                  NC_000017.11:g.78117626G>A, NC_000017.11:g.78117626G>C, NC_000017.10:g.76113707G>A, NC_000017.10:g.76113707G>C, NG_007879.1:g.19782C>T, NG_007879.1:g.19782C>G, NM_007267.7:c.2040C>T, NM_007267.7:c.2040C>G, NM_007267.6:c.2040C>T, NM_007267.6:c.2040C>G, NM_001127198.5:c.2040C>T, NM_001127198.5:c.2040C>G, NM_001127198.4:c.2040C>T, NM_001127198.4:c.2040C>G, NM_001127198.3:c.2040C>T, NM_001127198.3:c.2040C>G, NM_001127198.2:c.2040C>T, NM_001127198.2:c.2040C>G, NM_001127198.1:c.2040C>T, NM_001127198.1:c.2040C>G, NM_001374593.1:c.1860C>T, NM_001374593.1:c.1860C>G, NM_001374594.1:c.1860C>T, NM_001374594.1:c.1860C>G, NM_001375354.1:c.2040C>T, NM_001375354.1:c.2040C>G, NM_001375353.1:c.2040C>T, NM_001375353.1:c.2040C>G, NM_001321185.1:c.2040C>T, NM_001321185.1:c.2040C>G, XM_011524257.4:c.1230C>T, XM_011524257.4:c.1230C>G, XM_011524257.3:c.1230C>T, XM_011524257.3:c.1230C>G, XM_011524257.2:c.1230C>T, XM_011524257.2:c.1230C>G, XM_011524257.1:c.1230C>T, XM_011524257.1:c.1230C>G, XM_024450556.2:c.2040C>T, XM_024450556.2:c.2040C>G, XM_024450556.1:c.2040C>T, XM_024450556.1:c.2040C>G, XM_011524256.2:c.1914C>T, XM_011524256.2:c.1914C>G, XM_011524256.1:c.1914C>T, XM_011524256.1:c.1914C>G, XM_047435257.1:c.1914C>T, XM_047435257.1:c.1914C>G, XM_047435272.1:c.1734C>T, XM_047435272.1:c.1734C>G, XM_047435256.1:c.2040C>T, XM_047435256.1:c.2040C>G, XM_047435254.1:c.2040C>T, XM_047435254.1:c.2040C>G, XM_047435263.1:c.1914C>T, XM_047435263.1:c.1914C>G, XM_047435270.1:c.1860C>T, XM_047435270.1:c.1860C>G, XM_047435275.1:c.1734C>T, XM_047435275.1:c.1734C>G, XM_047435251.1:c.2040C>T, XM_047435251.1:c.2040C>G, XM_047435252.1:c.2040C>T, XM_047435252.1:c.2040C>G, XM_047435255.1:c.2040C>T, XM_047435255.1:c.2040C>G, NR_168289.1:n.2258C>T, NR_168289.1:n.2258C>G, XM_047435250.1:c.2040C>T, XM_047435250.1:c.2040C>G, XM_047435253.1:c.2040C>T, XM_047435253.1:c.2040C>G, XM_047435261.1:c.1914C>T, XM_047435261.1:c.1914C>G, NR_168290.1:n.2161C>T, NR_168290.1:n.2161C>G, XM_047435266.1:c.1860C>T, XM_047435266.1:c.1860C>G, XM_047435268.1:c.1860C>T, XM_047435268.1:c.1860C>G, XM_047435258.1:c.1914C>T, XM_047435258.1:c.1914C>G, XM_047435259.1:c.1914C>T, XM_047435259.1:c.1914C>G, NM_001374596.1:c.2040C>T, NM_001374596.1:c.2040C>G, XM_047435267.1:c.1860C>T, XM_047435267.1:c.1860C>G, XM_047435264.1:c.1860C>T, XM_047435264.1:c.1860C>G, XM_047435260.1:c.1914C>T, XM_047435260.1:c.1914C>G, XM_047435265.1:c.1860C>T, XM_047435265.1:c.1860C>G, XM_047435269.1:c.1860C>T, XM_047435269.1:c.1860C>G, XM_047435273.1:c.1734C>T, XM_047435273.1:c.1734C>G, XM_047435274.1:c.1734C>T, XM_047435274.1:c.1734C>G, NR_168288.1:n.2258C>T, NR_168288.1:n.2258C>G, NR_168291.1:n.2211C>T, NR_168291.1:n.2211C>G, XM_047435271.1:c.1860C>T, XM_047435271.1:c.1860C>G

                  9.

                  rs1484044563 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    17:78124003 (GRCh38)
                    17:76120084 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:78124002:G:A,NC_000017.11:78124002:G:T
                    Gene:
                    TMC6 (Varview)
                    Functional Consequence:
                    synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000011/3 (TOPMED)
                    HGVS:
                    NC_000017.11:g.78124003G>A, NC_000017.11:g.78124003G>T, NC_000017.10:g.76120084G>A, NC_000017.10:g.76120084G>T, NG_007879.1:g.13405C>T, NG_007879.1:g.13405C>A, NM_007267.7:c.1068C>T, NM_007267.7:c.1068C>A, NM_007267.6:c.1068C>T, NM_007267.6:c.1068C>A, NM_001127198.5:c.1068C>T, NM_001127198.5:c.1068C>A, NM_001127198.4:c.1068C>T, NM_001127198.4:c.1068C>A, NM_001127198.3:c.1068C>T, NM_001127198.3:c.1068C>A, NM_001127198.2:c.1068C>T, NM_001127198.2:c.1068C>A, NM_001127198.1:c.1068C>T, NM_001127198.1:c.1068C>A, NM_001374593.1:c.1068C>T, NM_001374593.1:c.1068C>A, NM_001374594.1:c.1068C>T, NM_001374594.1:c.1068C>A, NM_001375354.1:c.1068C>T, NM_001375354.1:c.1068C>A, NM_001375353.1:c.1068C>T, NM_001375353.1:c.1068C>A, NM_001321185.1:c.1068C>T, NM_001321185.1:c.1068C>A, XM_011524257.4:c.258C>T, XM_011524257.4:c.258C>A, XM_011524257.3:c.258C>T, XM_011524257.3:c.258C>A, XM_011524257.2:c.258C>T, XM_011524257.2:c.258C>A, XM_011524257.1:c.258C>T, XM_011524257.1:c.258C>A, XM_024450556.2:c.1068C>T, XM_024450556.2:c.1068C>A, XM_024450556.1:c.1068C>T, XM_024450556.1:c.1068C>A, XM_011524256.2:c.942C>T, XM_011524256.2:c.942C>A, XM_011524256.1:c.942C>T, XM_011524256.1:c.942C>A, XM_047435257.1:c.942C>T, XM_047435257.1:c.942C>A, XM_047435272.1:c.942C>T, XM_047435272.1:c.942C>A, XM_047435256.1:c.1068C>T, XM_047435256.1:c.1068C>A, XM_047435276.1:c.1068C>T, XM_047435276.1:c.1068C>A, XM_047435254.1:c.1068C>T, XM_047435254.1:c.1068C>A, XM_047435263.1:c.942C>T, XM_047435263.1:c.942C>A, XM_047435270.1:c.1068C>T, XM_047435270.1:c.1068C>A, XM_047435275.1:c.942C>T, XM_047435275.1:c.942C>A, XM_047435251.1:c.1068C>T, XM_047435251.1:c.1068C>A, XM_047435252.1:c.1068C>T, XM_047435252.1:c.1068C>A, XM_047435255.1:c.1068C>T, XM_047435255.1:c.1068C>A, NR_168289.1:n.1286C>T, NR_168289.1:n.1286C>A, XM_047435250.1:c.1068C>T, XM_047435250.1:c.1068C>A, XM_047435253.1:c.1068C>T, XM_047435253.1:c.1068C>A, XM_047435261.1:c.942C>T, XM_047435261.1:c.942C>A, NR_168290.1:n.1189C>T, NR_168290.1:n.1189C>A, XM_047435266.1:c.1068C>T, XM_047435266.1:c.1068C>A, XM_047435268.1:c.1068C>T, XM_047435268.1:c.1068C>A, XM_047435258.1:c.942C>T, XM_047435258.1:c.942C>A, XM_047435259.1:c.942C>T, XM_047435259.1:c.942C>A, NM_001374596.1:c.1068C>T, NM_001374596.1:c.1068C>A, XM_047435267.1:c.1068C>T, XM_047435267.1:c.1068C>A, XM_047435264.1:c.1068C>T, XM_047435264.1:c.1068C>A, XM_047435260.1:c.942C>T, XM_047435260.1:c.942C>A, XM_047435265.1:c.1068C>T, XM_047435265.1:c.1068C>A, XM_047435269.1:c.1068C>T, XM_047435269.1:c.1068C>A, XM_047435273.1:c.942C>T, XM_047435273.1:c.942C>A, XM_047435274.1:c.942C>T, XM_047435274.1:c.942C>A, NR_168288.1:n.1286C>T, NR_168288.1:n.1286C>A, NR_168291.1:n.1239C>T, NR_168291.1:n.1239C>A, XM_047435271.1:c.1068C>T, XM_047435271.1:c.1068C>A, XM_047435277.1:c.1068C>T, XM_047435277.1:c.1068C>A, XM_047435278.1:c.1068C>T, XM_047435278.1:c.1068C>A

                    10.

                    rs1482656230 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      17:78113185 (GRCh38)
                      17:76109266 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:78113184:G:A
                      Gene:
                      TMC6 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000017.11:g.78113185G>A, NC_000017.10:g.76109266G>A, NG_007879.1:g.24223C>T, NM_007267.7:c.2381C>T, NM_007267.6:c.2381C>T, NM_001127198.5:c.2381C>T, NM_001127198.4:c.2381C>T, NM_001127198.3:c.2381C>T, NM_001127198.2:c.2381C>T, NM_001127198.1:c.2381C>T, NM_001374593.1:c.2201C>T, NM_001374594.1:c.2201C>T, NM_001375354.1:c.2381C>T, NM_001375353.1:c.2381C>T, NM_001321185.1:c.2381C>T, XM_011524257.4:c.1571C>T, XM_011524257.3:c.1571C>T, XM_011524257.2:c.1571C>T, XM_011524257.1:c.1571C>T, XM_024450556.2:c.2381C>T, XM_024450556.1:c.2381C>T, XM_011524256.2:c.2255C>T, XM_011524256.1:c.2255C>T, XM_047435257.1:c.2255C>T, XM_047435272.1:c.2075C>T, XM_047435256.1:c.2381C>T, XM_047435276.1:c.1331C>T, XM_047435254.1:c.2381C>T, XM_047435263.1:c.2255C>T, XM_047435270.1:c.2201C>T, XM_047435275.1:c.2075C>T, XM_047435251.1:c.2381C>T, XM_047435252.1:c.2381C>T, XM_047435255.1:c.2381C>T, NR_168289.1:n.2599C>T, XM_047435250.1:c.2381C>T, XM_047435253.1:c.2381C>T, XM_047435261.1:c.2255C>T, NR_168290.1:n.2502C>T, XM_047435266.1:c.2201C>T, XM_047435268.1:c.2201C>T, XM_047435258.1:c.2255C>T, XM_047435259.1:c.2255C>T, NM_001374596.1:c.2381C>T, XM_047435267.1:c.2201C>T, XM_047435264.1:c.2201C>T, XM_047435260.1:c.2255C>T, XM_047435265.1:c.2201C>T, XM_047435269.1:c.2201C>T, XM_047435273.1:c.2075C>T, XM_047435274.1:c.2075C>T, NR_168288.1:n.2599C>T, NR_168291.1:n.2552C>T, XM_047435271.1:c.2201C>T, XM_047435277.1:c.1331C>T, XM_047435278.1:c.1331C>T, NP_009198.4:p.Ala794Val, NP_001120670.1:p.Ala794Val, NP_001361522.1:p.Ala734Val, NP_001361523.1:p.Ala734Val, NP_001362283.1:p.Ala794Val, NP_001362282.1:p.Ala794Val, NP_001308114.1:p.Ala794Val, XP_011522559.1:p.Ala524Val, XP_024306324.1:p.Ala794Val, XP_011522558.1:p.Ala752Val, XP_047291213.1:p.Ala752Val, XP_047291228.1:p.Ala692Val, XP_047291212.1:p.Ala794Val, XP_047291232.1:p.Ala444Val, XP_047291210.1:p.Ala794Val, XP_047291219.1:p.Ala752Val, XP_047291226.1:p.Ala734Val, XP_047291231.1:p.Ala692Val, XP_047291207.1:p.Ala794Val, XP_047291208.1:p.Ala794Val, XP_047291211.1:p.Ala794Val, XP_047291206.1:p.Ala794Val, XP_047291209.1:p.Ala794Val, XP_047291217.1:p.Ala752Val, XP_047291222.1:p.Ala734Val, XP_047291224.1:p.Ala734Val, XP_047291214.1:p.Ala752Val, XP_047291215.1:p.Ala752Val, NP_001361525.1:p.Ala794Val, XP_047291223.1:p.Ala734Val, XP_047291220.1:p.Ala734Val, XP_047291216.1:p.Ala752Val, XP_047291221.1:p.Ala734Val, XP_047291225.1:p.Ala734Val, XP_047291229.1:p.Ala692Val, XP_047291230.1:p.Ala692Val, XP_047291227.1:p.Ala734Val, XP_047291233.1:p.Ala444Val, XP_047291234.1:p.Ala444Val

                      11.

                      rs1481657004 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        17:78125832 (GRCh38)
                        17:76121913 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:78125831:A:G
                        Gene:
                        TMC6 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000013/2 (GnomAD_exomes)
                        HGVS:
                        NC_000017.11:g.78125832A>G, NC_000017.10:g.76121913A>G, NG_007879.1:g.11576T>C, NM_007267.7:c.324T>C, NM_007267.6:c.324T>C, NM_001127198.5:c.324T>C, NM_001127198.4:c.324T>C, NM_001127198.3:c.324T>C, NM_001127198.2:c.324T>C, NM_001127198.1:c.324T>C, NM_001374593.1:c.324T>C, NM_001374594.1:c.324T>C, NM_001375354.1:c.324T>C, NM_001375353.1:c.324T>C, NM_001321185.1:c.324T>C, NG_007881.1:g.55A>G, XM_024450556.2:c.324T>C, XM_024450556.1:c.324T>C, XM_011524256.2:c.324T>C, XM_011524256.1:c.324T>C, XM_047435257.1:c.324T>C, XM_047435272.1:c.324T>C, XM_047435256.1:c.324T>C, XM_047435276.1:c.324T>C, XM_047435254.1:c.324T>C, XM_047435263.1:c.324T>C, XM_047435270.1:c.324T>C, XM_047435275.1:c.324T>C, XM_047435251.1:c.324T>C, XM_047435252.1:c.324T>C, XM_047435255.1:c.324T>C, NR_168289.1:n.542T>C, XM_047435250.1:c.324T>C, XM_047435253.1:c.324T>C, XM_047435261.1:c.324T>C, NR_168290.1:n.542T>C, XM_047435266.1:c.324T>C, XM_047435268.1:c.324T>C, XM_047435258.1:c.324T>C, XM_047435259.1:c.324T>C, NM_001374596.1:c.324T>C, XM_047435267.1:c.324T>C, XM_047435264.1:c.324T>C, XM_047435260.1:c.324T>C, XM_047435265.1:c.324T>C, XM_047435269.1:c.324T>C, XM_047435273.1:c.324T>C, XM_047435274.1:c.324T>C, NR_168288.1:n.542T>C, NR_168291.1:n.495T>C, XM_047435271.1:c.324T>C, XM_047435277.1:c.324T>C, XM_047435278.1:c.324T>C

                        12.

                        rs1480820819 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          17:78113602 (GRCh38)
                          17:76109683 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:78113601:A:G
                          Gene:
                          TMC6 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000017.11:g.78113602A>G, NC_000017.10:g.76109683A>G, NG_007879.1:g.23806T>C, NM_007267.7:c.2300T>C, NM_007267.6:c.2300T>C, NM_001127198.5:c.2300T>C, NM_001127198.4:c.2300T>C, NM_001127198.3:c.2300T>C, NM_001127198.2:c.2300T>C, NM_001127198.1:c.2300T>C, NM_001374593.1:c.2120T>C, NM_001374594.1:c.2120T>C, NM_001375354.1:c.2300T>C, NM_001375353.1:c.2300T>C, NM_001321185.1:c.2300T>C, XM_011524257.4:c.1490T>C, XM_011524257.3:c.1490T>C, XM_011524257.2:c.1490T>C, XM_011524257.1:c.1490T>C, XM_024450556.2:c.2300T>C, XM_024450556.1:c.2300T>C, XM_011524256.2:c.2174T>C, XM_011524256.1:c.2174T>C, XM_047435257.1:c.2174T>C, XM_047435272.1:c.1994T>C, XM_047435256.1:c.2300T>C, XM_047435276.1:c.1250T>C, XM_047435254.1:c.2300T>C, XM_047435263.1:c.2174T>C, XM_047435270.1:c.2120T>C, XM_047435275.1:c.1994T>C, XM_047435251.1:c.2300T>C, XM_047435252.1:c.2300T>C, XM_047435255.1:c.2300T>C, NR_168289.1:n.2518T>C, XM_047435250.1:c.2300T>C, XM_047435253.1:c.2300T>C, XM_047435261.1:c.2174T>C, NR_168290.1:n.2421T>C, XM_047435266.1:c.2120T>C, XM_047435268.1:c.2120T>C, XM_047435258.1:c.2174T>C, XM_047435259.1:c.2174T>C, NM_001374596.1:c.2300T>C, XM_047435267.1:c.2120T>C, XM_047435264.1:c.2120T>C, XM_047435260.1:c.2174T>C, XM_047435265.1:c.2120T>C, XM_047435269.1:c.2120T>C, XM_047435273.1:c.1994T>C, XM_047435274.1:c.1994T>C, NR_168288.1:n.2518T>C, NR_168291.1:n.2471T>C, XM_047435271.1:c.2120T>C, XM_047435277.1:c.1250T>C, XM_047435278.1:c.1250T>C, NP_009198.4:p.Leu767Ser, NP_001120670.1:p.Leu767Ser, NP_001361522.1:p.Leu707Ser, NP_001361523.1:p.Leu707Ser, NP_001362283.1:p.Leu767Ser, NP_001362282.1:p.Leu767Ser, NP_001308114.1:p.Leu767Ser, XP_011522559.1:p.Leu497Ser, XP_024306324.1:p.Leu767Ser, XP_011522558.1:p.Leu725Ser, XP_047291213.1:p.Leu725Ser, XP_047291228.1:p.Leu665Ser, XP_047291212.1:p.Leu767Ser, XP_047291232.1:p.Leu417Ser, XP_047291210.1:p.Leu767Ser, XP_047291219.1:p.Leu725Ser, XP_047291226.1:p.Leu707Ser, XP_047291231.1:p.Leu665Ser, XP_047291207.1:p.Leu767Ser, XP_047291208.1:p.Leu767Ser, XP_047291211.1:p.Leu767Ser, XP_047291206.1:p.Leu767Ser, XP_047291209.1:p.Leu767Ser, XP_047291217.1:p.Leu725Ser, XP_047291222.1:p.Leu707Ser, XP_047291224.1:p.Leu707Ser, XP_047291214.1:p.Leu725Ser, XP_047291215.1:p.Leu725Ser, NP_001361525.1:p.Leu767Ser, XP_047291223.1:p.Leu707Ser, XP_047291220.1:p.Leu707Ser, XP_047291216.1:p.Leu725Ser, XP_047291221.1:p.Leu707Ser, XP_047291225.1:p.Leu707Ser, XP_047291229.1:p.Leu665Ser, XP_047291230.1:p.Leu665Ser, XP_047291227.1:p.Leu707Ser, XP_047291233.1:p.Leu417Ser, XP_047291234.1:p.Leu417Ser

                          13.

                          rs1480740509 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            17:78126334 (GRCh38)
                            17:76122415 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:78126333:C:T
                            Gene:
                            TMC6 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000005/1 (GnomAD_exomes)
                            HGVS:
                            NC_000017.11:g.78126334C>T, NC_000017.10:g.76122415C>T, NG_007879.1:g.11074G>A, NM_007267.7:c.214G>A, NM_007267.6:c.214G>A, NM_001127198.5:c.214G>A, NM_001127198.4:c.214G>A, NM_001127198.3:c.214G>A, NM_001127198.2:c.214G>A, NM_001127198.1:c.214G>A, NM_001374593.1:c.214G>A, NM_001374594.1:c.214G>A, NM_001375354.1:c.214G>A, NM_001375353.1:c.214G>A, NM_001321185.1:c.214G>A, NG_007881.1:g.557C>T, XM_024450556.2:c.214G>A, XM_024450556.1:c.214G>A, XM_011524256.2:c.214G>A, XM_011524256.1:c.214G>A, XM_047435257.1:c.214G>A, XM_047435272.1:c.214G>A, XM_047435256.1:c.214G>A, XM_047435276.1:c.214G>A, XM_047435254.1:c.214G>A, XM_047435263.1:c.214G>A, XM_047435270.1:c.214G>A, XM_047435275.1:c.214G>A, XM_047435251.1:c.214G>A, XM_047435252.1:c.214G>A, XM_047435255.1:c.214G>A, NR_168289.1:n.432G>A, XM_047435250.1:c.214G>A, XM_047435253.1:c.214G>A, XM_047435261.1:c.214G>A, NR_168290.1:n.432G>A, XM_047435266.1:c.214G>A, XM_047435268.1:c.214G>A, XM_047435258.1:c.214G>A, XM_047435259.1:c.214G>A, NM_001374596.1:c.214G>A, XM_047435267.1:c.214G>A, XM_047435264.1:c.214G>A, XM_047435260.1:c.214G>A, XM_047435265.1:c.214G>A, XM_047435269.1:c.214G>A, XM_047435273.1:c.214G>A, XM_047435274.1:c.214G>A, NR_168288.1:n.432G>A, NR_168291.1:n.385G>A, XM_047435271.1:c.214G>A, XM_047435277.1:c.214G>A, XM_047435278.1:c.214G>A, NP_009198.4:p.Gly72Ser, NP_001120670.1:p.Gly72Ser, NP_001361522.1:p.Gly72Ser, NP_001361523.1:p.Gly72Ser, NP_001362283.1:p.Gly72Ser, NP_001362282.1:p.Gly72Ser, NP_001308114.1:p.Gly72Ser, XP_024306324.1:p.Gly72Ser, XP_011522558.1:p.Gly72Ser, XP_047291213.1:p.Gly72Ser, XP_047291228.1:p.Gly72Ser, XP_047291212.1:p.Gly72Ser, XP_047291232.1:p.Gly72Ser, XP_047291210.1:p.Gly72Ser, XP_047291219.1:p.Gly72Ser, XP_047291226.1:p.Gly72Ser, XP_047291231.1:p.Gly72Ser, XP_047291207.1:p.Gly72Ser, XP_047291208.1:p.Gly72Ser, XP_047291211.1:p.Gly72Ser, XP_047291206.1:p.Gly72Ser, XP_047291209.1:p.Gly72Ser, XP_047291217.1:p.Gly72Ser, XP_047291222.1:p.Gly72Ser, XP_047291224.1:p.Gly72Ser, XP_047291214.1:p.Gly72Ser, XP_047291215.1:p.Gly72Ser, NP_001361525.1:p.Gly72Ser, XP_047291223.1:p.Gly72Ser, XP_047291220.1:p.Gly72Ser, XP_047291216.1:p.Gly72Ser, XP_047291221.1:p.Gly72Ser, XP_047291225.1:p.Gly72Ser, XP_047291229.1:p.Gly72Ser, XP_047291230.1:p.Gly72Ser, XP_047291227.1:p.Gly72Ser, XP_047291233.1:p.Gly72Ser, XP_047291234.1:p.Gly72Ser

                            14.

                            rs1480673461 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              17:78119333 (GRCh38)
                              17:76115414 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:78119332:T:C
                              Gene:
                              TMC6 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                              HGVS:
                              NC_000017.11:g.78119333T>C, NC_000017.10:g.76115414T>C, NG_007879.1:g.18075A>G, NM_007267.7:c.1775A>G, NM_007267.6:c.1775A>G, NM_001127198.5:c.1775A>G, NM_001127198.4:c.1775A>G, NM_001127198.3:c.1775A>G, NM_001127198.2:c.1775A>G, NM_001127198.1:c.1775A>G, NM_001374593.1:c.1595A>G, NM_001374594.1:c.1595A>G, NM_001375354.1:c.1775A>G, NM_001375353.1:c.1775A>G, NM_001321185.1:c.1775A>G, XM_011524257.4:c.965A>G, XM_011524257.3:c.965A>G, XM_011524257.2:c.965A>G, XM_011524257.1:c.965A>G, XM_024450556.2:c.1775A>G, XM_024450556.1:c.1775A>G, XM_011524256.2:c.1649A>G, XM_011524256.1:c.1649A>G, XM_047435257.1:c.1649A>G, XM_047435272.1:c.1469A>G, XM_047435256.1:c.1775A>G, XM_047435254.1:c.1775A>G, XM_047435263.1:c.1649A>G, XM_047435270.1:c.1595A>G, XM_047435275.1:c.1469A>G, XM_047435251.1:c.1775A>G, XM_047435252.1:c.1775A>G, XM_047435255.1:c.1775A>G, NR_168289.1:n.1993A>G, XM_047435250.1:c.1775A>G, XM_047435253.1:c.1775A>G, XM_047435261.1:c.1649A>G, NR_168290.1:n.1896A>G, XM_047435266.1:c.1595A>G, XM_047435268.1:c.1595A>G, XM_047435258.1:c.1649A>G, XM_047435259.1:c.1649A>G, NM_001374596.1:c.1775A>G, XM_047435267.1:c.1595A>G, XM_047435264.1:c.1595A>G, XM_047435260.1:c.1649A>G, XM_047435265.1:c.1595A>G, XM_047435269.1:c.1595A>G, XM_047435273.1:c.1469A>G, XM_047435274.1:c.1469A>G, NR_168288.1:n.1993A>G, NR_168291.1:n.1946A>G, XM_047435271.1:c.1595A>G, NP_009198.4:p.Asn592Ser, NP_001120670.1:p.Asn592Ser, NP_001361522.1:p.Asn532Ser, NP_001361523.1:p.Asn532Ser, NP_001362283.1:p.Asn592Ser, NP_001362282.1:p.Asn592Ser, NP_001308114.1:p.Asn592Ser, XP_011522559.1:p.Asn322Ser, XP_024306324.1:p.Asn592Ser, XP_011522558.1:p.Asn550Ser, XP_047291213.1:p.Asn550Ser, XP_047291228.1:p.Asn490Ser, XP_047291212.1:p.Asn592Ser, XP_047291210.1:p.Asn592Ser, XP_047291219.1:p.Asn550Ser, XP_047291226.1:p.Asn532Ser, XP_047291231.1:p.Asn490Ser, XP_047291207.1:p.Asn592Ser, XP_047291208.1:p.Asn592Ser, XP_047291211.1:p.Asn592Ser, XP_047291206.1:p.Asn592Ser, XP_047291209.1:p.Asn592Ser, XP_047291217.1:p.Asn550Ser, XP_047291222.1:p.Asn532Ser, XP_047291224.1:p.Asn532Ser, XP_047291214.1:p.Asn550Ser, XP_047291215.1:p.Asn550Ser, NP_001361525.1:p.Asn592Ser, XP_047291223.1:p.Asn532Ser, XP_047291220.1:p.Asn532Ser, XP_047291216.1:p.Asn550Ser, XP_047291221.1:p.Asn532Ser, XP_047291225.1:p.Asn532Ser, XP_047291229.1:p.Asn490Ser, XP_047291230.1:p.Asn490Ser, XP_047291227.1:p.Asn532Ser

                              15.

                              rs1480605616 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                17:78125230 (GRCh38)
                                17:76121311 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:78125229:C:A
                                Gene:
                                TMC6 (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                HGVS:
                                NC_000017.11:g.78125230C>A, NC_000017.10:g.76121311C>A, NG_007879.1:g.12178G>T, NM_007267.7:c.464G>T, NM_007267.6:c.464G>T, NM_001127198.5:c.464G>T, NM_001127198.4:c.464G>T, NM_001127198.3:c.464G>T, NM_001127198.2:c.464G>T, NM_001127198.1:c.464G>T, NM_001374593.1:c.464G>T, NM_001374594.1:c.464G>T, NM_001375354.1:c.464G>T, NM_001375353.1:c.464G>T, NM_001321185.1:c.464G>T, XM_011524257.4:c.-124G>T, XM_011524257.1:c.-124G>T, XM_024450556.2:c.464G>T, XM_024450556.1:c.464G>T, XM_011524256.2:c.464G>T, XM_011524256.1:c.464G>T, XM_047435257.1:c.464G>T, XM_047435272.1:c.464G>T, XM_047435256.1:c.464G>T, XM_047435276.1:c.464G>T, XM_047435254.1:c.464G>T, XM_047435263.1:c.464G>T, XM_047435270.1:c.464G>T, XM_047435275.1:c.464G>T, XM_047435251.1:c.464G>T, XM_047435252.1:c.464G>T, XM_047435255.1:c.464G>T, NR_168289.1:n.682G>T, XM_047435250.1:c.464G>T, XM_047435253.1:c.464G>T, XM_047435261.1:c.464G>T, NR_168290.1:n.682G>T, XM_047435266.1:c.464G>T, XM_047435268.1:c.464G>T, XM_047435258.1:c.464G>T, XM_047435259.1:c.464G>T, NM_001374596.1:c.464G>T, XM_047435267.1:c.464G>T, XM_047435264.1:c.464G>T, XM_047435260.1:c.464G>T, XM_047435265.1:c.464G>T, XM_047435269.1:c.464G>T, XM_047435273.1:c.464G>T, XM_047435274.1:c.464G>T, NR_168288.1:n.682G>T, NR_168291.1:n.635G>T, XM_047435271.1:c.464G>T, XM_047435277.1:c.464G>T, XM_047435278.1:c.464G>T, NP_009198.4:p.Ser155Ile, NP_001120670.1:p.Ser155Ile, NP_001361522.1:p.Ser155Ile, NP_001361523.1:p.Ser155Ile, NP_001362283.1:p.Ser155Ile, NP_001362282.1:p.Ser155Ile, NP_001308114.1:p.Ser155Ile, XP_024306324.1:p.Ser155Ile, XP_011522558.1:p.Ser155Ile, XP_047291213.1:p.Ser155Ile, XP_047291228.1:p.Ser155Ile, XP_047291212.1:p.Ser155Ile, XP_047291232.1:p.Ser155Ile, XP_047291210.1:p.Ser155Ile, XP_047291219.1:p.Ser155Ile, XP_047291226.1:p.Ser155Ile, XP_047291231.1:p.Ser155Ile, XP_047291207.1:p.Ser155Ile, XP_047291208.1:p.Ser155Ile, XP_047291211.1:p.Ser155Ile, XP_047291206.1:p.Ser155Ile, XP_047291209.1:p.Ser155Ile, XP_047291217.1:p.Ser155Ile, XP_047291222.1:p.Ser155Ile, XP_047291224.1:p.Ser155Ile, XP_047291214.1:p.Ser155Ile, XP_047291215.1:p.Ser155Ile, NP_001361525.1:p.Ser155Ile, XP_047291223.1:p.Ser155Ile, XP_047291220.1:p.Ser155Ile, XP_047291216.1:p.Ser155Ile, XP_047291221.1:p.Ser155Ile, XP_047291225.1:p.Ser155Ile, XP_047291229.1:p.Ser155Ile, XP_047291230.1:p.Ser155Ile, XP_047291227.1:p.Ser155Ile, XP_047291233.1:p.Ser155Ile, XP_047291234.1:p.Ser155Ile

                                16.

                                rs1480132311 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  17:78117591 (GRCh38)
                                  17:76113672 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:78117590:T:C
                                  Gene:
                                  TMC6 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0.000094/1 (ALFA)
                                  C=0.00001/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000017.11:g.78117591T>C, NC_000017.10:g.76113672T>C, NG_007879.1:g.19817A>G, NM_007267.7:c.2075A>G, NM_007267.6:c.2075A>G, NM_001127198.5:c.2075A>G, NM_001127198.4:c.2075A>G, NM_001127198.3:c.2075A>G, NM_001127198.2:c.2075A>G, NM_001127198.1:c.2075A>G, NM_001374593.1:c.1895A>G, NM_001374594.1:c.1895A>G, NM_001375354.1:c.2075A>G, NM_001375353.1:c.2075A>G, NM_001321185.1:c.2075A>G, XM_011524257.4:c.1265A>G, XM_011524257.3:c.1265A>G, XM_011524257.2:c.1265A>G, XM_011524257.1:c.1265A>G, XM_024450556.2:c.2075A>G, XM_024450556.1:c.2075A>G, XM_011524256.2:c.1949A>G, XM_011524256.1:c.1949A>G, XM_047435257.1:c.1949A>G, XM_047435272.1:c.1769A>G, XM_047435256.1:c.2075A>G, XM_047435254.1:c.2075A>G, XM_047435263.1:c.1949A>G, XM_047435270.1:c.1895A>G, XM_047435275.1:c.1769A>G, XM_047435251.1:c.2075A>G, XM_047435252.1:c.2075A>G, XM_047435255.1:c.2075A>G, NR_168289.1:n.2293A>G, XM_047435250.1:c.2075A>G, XM_047435253.1:c.2075A>G, XM_047435261.1:c.1949A>G, NR_168290.1:n.2196A>G, XM_047435266.1:c.1895A>G, XM_047435268.1:c.1895A>G, XM_047435258.1:c.1949A>G, XM_047435259.1:c.1949A>G, NM_001374596.1:c.2075A>G, XM_047435267.1:c.1895A>G, XM_047435264.1:c.1895A>G, XM_047435260.1:c.1949A>G, XM_047435265.1:c.1895A>G, XM_047435269.1:c.1895A>G, XM_047435273.1:c.1769A>G, XM_047435274.1:c.1769A>G, NR_168288.1:n.2293A>G, NR_168291.1:n.2246A>G, XM_047435271.1:c.1895A>G, NP_009198.4:p.Glu692Gly, NP_001120670.1:p.Glu692Gly, NP_001361522.1:p.Glu632Gly, NP_001361523.1:p.Glu632Gly, NP_001362283.1:p.Glu692Gly, NP_001362282.1:p.Glu692Gly, NP_001308114.1:p.Glu692Gly, XP_011522559.1:p.Glu422Gly, XP_024306324.1:p.Glu692Gly, XP_011522558.1:p.Glu650Gly, XP_047291213.1:p.Glu650Gly, XP_047291228.1:p.Glu590Gly, XP_047291212.1:p.Glu692Gly, XP_047291210.1:p.Glu692Gly, XP_047291219.1:p.Glu650Gly, XP_047291226.1:p.Glu632Gly, XP_047291231.1:p.Glu590Gly, XP_047291207.1:p.Glu692Gly, XP_047291208.1:p.Glu692Gly, XP_047291211.1:p.Glu692Gly, XP_047291206.1:p.Glu692Gly, XP_047291209.1:p.Glu692Gly, XP_047291217.1:p.Glu650Gly, XP_047291222.1:p.Glu632Gly, XP_047291224.1:p.Glu632Gly, XP_047291214.1:p.Glu650Gly, XP_047291215.1:p.Glu650Gly, NP_001361525.1:p.Glu692Gly, XP_047291223.1:p.Glu632Gly, XP_047291220.1:p.Glu632Gly, XP_047291216.1:p.Glu650Gly, XP_047291221.1:p.Glu632Gly, XP_047291225.1:p.Glu632Gly, XP_047291229.1:p.Glu590Gly, XP_047291230.1:p.Glu590Gly, XP_047291227.1:p.Glu632Gly

                                  17.

                                  rs1480012656 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    17:78124052 (GRCh38)
                                    17:76120133 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:78124051:G:A,NC_000017.11:78124051:G:C
                                    Gene:
                                    TMC6 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000017.11:g.78124052G>A, NC_000017.11:g.78124052G>C, NC_000017.10:g.76120133G>A, NC_000017.10:g.76120133G>C, NG_007879.1:g.13356C>T, NG_007879.1:g.13356C>G, NM_007267.7:c.1019C>T, NM_007267.7:c.1019C>G, NM_007267.6:c.1019C>T, NM_007267.6:c.1019C>G, NM_001127198.5:c.1019C>T, NM_001127198.5:c.1019C>G, NM_001127198.4:c.1019C>T, NM_001127198.4:c.1019C>G, NM_001127198.3:c.1019C>T, NM_001127198.3:c.1019C>G, NM_001127198.2:c.1019C>T, NM_001127198.2:c.1019C>G, NM_001127198.1:c.1019C>T, NM_001127198.1:c.1019C>G, NM_001374593.1:c.1019C>T, NM_001374593.1:c.1019C>G, NM_001374594.1:c.1019C>T, NM_001374594.1:c.1019C>G, NM_001375354.1:c.1019C>T, NM_001375354.1:c.1019C>G, NM_001375353.1:c.1019C>T, NM_001375353.1:c.1019C>G, NM_001321185.1:c.1019C>T, NM_001321185.1:c.1019C>G, XM_011524257.4:c.209C>T, XM_011524257.4:c.209C>G, XM_011524257.3:c.209C>T, XM_011524257.3:c.209C>G, XM_011524257.2:c.209C>T, XM_011524257.2:c.209C>G, XM_011524257.1:c.209C>T, XM_011524257.1:c.209C>G, XM_024450556.2:c.1019C>T, XM_024450556.2:c.1019C>G, XM_024450556.1:c.1019C>T, XM_024450556.1:c.1019C>G, XM_011524256.2:c.893C>T, XM_011524256.2:c.893C>G, XM_011524256.1:c.893C>T, XM_011524256.1:c.893C>G, XM_047435257.1:c.893C>T, XM_047435257.1:c.893C>G, XM_047435272.1:c.893C>T, XM_047435272.1:c.893C>G, XM_047435256.1:c.1019C>T, XM_047435256.1:c.1019C>G, XM_047435276.1:c.1019C>T, XM_047435276.1:c.1019C>G, XM_047435254.1:c.1019C>T, XM_047435254.1:c.1019C>G, XM_047435263.1:c.893C>T, XM_047435263.1:c.893C>G, XM_047435270.1:c.1019C>T, XM_047435270.1:c.1019C>G, XM_047435275.1:c.893C>T, XM_047435275.1:c.893C>G, XM_047435251.1:c.1019C>T, XM_047435251.1:c.1019C>G, XM_047435252.1:c.1019C>T, XM_047435252.1:c.1019C>G, XM_047435255.1:c.1019C>T, XM_047435255.1:c.1019C>G, NR_168289.1:n.1237C>T, NR_168289.1:n.1237C>G, XM_047435250.1:c.1019C>T, XM_047435250.1:c.1019C>G, XM_047435253.1:c.1019C>T, XM_047435253.1:c.1019C>G, XM_047435261.1:c.893C>T, XM_047435261.1:c.893C>G, NR_168290.1:n.1140C>T, NR_168290.1:n.1140C>G, XM_047435266.1:c.1019C>T, XM_047435266.1:c.1019C>G, XM_047435268.1:c.1019C>T, XM_047435268.1:c.1019C>G, XM_047435258.1:c.893C>T, XM_047435258.1:c.893C>G, XM_047435259.1:c.893C>T, XM_047435259.1:c.893C>G, NM_001374596.1:c.1019C>T, NM_001374596.1:c.1019C>G, XM_047435267.1:c.1019C>T, XM_047435267.1:c.1019C>G, XM_047435264.1:c.1019C>T, XM_047435264.1:c.1019C>G, XM_047435260.1:c.893C>T, XM_047435260.1:c.893C>G, XM_047435265.1:c.1019C>T, XM_047435265.1:c.1019C>G, XM_047435269.1:c.1019C>T, XM_047435269.1:c.1019C>G, XM_047435273.1:c.893C>T, XM_047435273.1:c.893C>G, XM_047435274.1:c.893C>T, XM_047435274.1:c.893C>G, NR_168288.1:n.1237C>T, NR_168288.1:n.1237C>G, NR_168291.1:n.1190C>T, NR_168291.1:n.1190C>G, XM_047435271.1:c.1019C>T, XM_047435271.1:c.1019C>G, XM_047435277.1:c.1019C>T, XM_047435277.1:c.1019C>G, XM_047435278.1:c.1019C>T, XM_047435278.1:c.1019C>G, NP_009198.4:p.Pro340Leu, NP_009198.4:p.Pro340Arg, NP_001120670.1:p.Pro340Leu, NP_001120670.1:p.Pro340Arg, NP_001361522.1:p.Pro340Leu, NP_001361522.1:p.Pro340Arg, NP_001361523.1:p.Pro340Leu, NP_001361523.1:p.Pro340Arg, NP_001362283.1:p.Pro340Leu, NP_001362283.1:p.Pro340Arg, NP_001362282.1:p.Pro340Leu, NP_001362282.1:p.Pro340Arg, NP_001308114.1:p.Pro340Leu, NP_001308114.1:p.Pro340Arg, XP_011522559.1:p.Pro70Leu, XP_011522559.1:p.Pro70Arg, XP_024306324.1:p.Pro340Leu, XP_024306324.1:p.Pro340Arg, XP_011522558.1:p.Pro298Leu, XP_011522558.1:p.Pro298Arg, XP_047291213.1:p.Pro298Leu, XP_047291213.1:p.Pro298Arg, XP_047291228.1:p.Pro298Leu, XP_047291228.1:p.Pro298Arg, XP_047291212.1:p.Pro340Leu, XP_047291212.1:p.Pro340Arg, XP_047291232.1:p.Pro340Leu, XP_047291232.1:p.Pro340Arg, XP_047291210.1:p.Pro340Leu, XP_047291210.1:p.Pro340Arg, XP_047291219.1:p.Pro298Leu, XP_047291219.1:p.Pro298Arg, XP_047291226.1:p.Pro340Leu, XP_047291226.1:p.Pro340Arg, XP_047291231.1:p.Pro298Leu, XP_047291231.1:p.Pro298Arg, XP_047291207.1:p.Pro340Leu, XP_047291207.1:p.Pro340Arg, XP_047291208.1:p.Pro340Leu, XP_047291208.1:p.Pro340Arg, XP_047291211.1:p.Pro340Leu, XP_047291211.1:p.Pro340Arg, XP_047291206.1:p.Pro340Leu, XP_047291206.1:p.Pro340Arg, XP_047291209.1:p.Pro340Leu, XP_047291209.1:p.Pro340Arg, XP_047291217.1:p.Pro298Leu, XP_047291217.1:p.Pro298Arg, XP_047291222.1:p.Pro340Leu, XP_047291222.1:p.Pro340Arg, XP_047291224.1:p.Pro340Leu, XP_047291224.1:p.Pro340Arg, XP_047291214.1:p.Pro298Leu, XP_047291214.1:p.Pro298Arg, XP_047291215.1:p.Pro298Leu, XP_047291215.1:p.Pro298Arg, NP_001361525.1:p.Pro340Leu, NP_001361525.1:p.Pro340Arg, XP_047291223.1:p.Pro340Leu, XP_047291223.1:p.Pro340Arg, XP_047291220.1:p.Pro340Leu, XP_047291220.1:p.Pro340Arg, XP_047291216.1:p.Pro298Leu, XP_047291216.1:p.Pro298Arg, XP_047291221.1:p.Pro340Leu, XP_047291221.1:p.Pro340Arg, XP_047291225.1:p.Pro340Leu, XP_047291225.1:p.Pro340Arg, XP_047291229.1:p.Pro298Leu, XP_047291229.1:p.Pro298Arg, XP_047291230.1:p.Pro298Leu, XP_047291230.1:p.Pro298Arg, XP_047291227.1:p.Pro340Leu, XP_047291227.1:p.Pro340Arg, XP_047291233.1:p.Pro340Leu, XP_047291233.1:p.Pro340Arg, XP_047291234.1:p.Pro340Leu, XP_047291234.1:p.Pro340Arg

                                    18.

                                    rs1477035174 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      17:78120820 (GRCh38)
                                      17:76116901 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:78120819:G:A
                                      Gene:
                                      TMC6 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      HGVS:
                                      NC_000017.11:g.78120820G>A, NC_000017.10:g.76116901G>A, NG_007879.1:g.16588C>T, NM_007267.7:c.1548C>T, NM_007267.6:c.1548C>T, NM_001127198.5:c.1548C>T, NM_001127198.4:c.1548C>T, NM_001127198.3:c.1548C>T, NM_001127198.2:c.1548C>T, NM_001127198.1:c.1548C>T, NM_001375354.1:c.1548C>T, NM_001375353.1:c.1548C>T, NM_001321185.1:c.1548C>T, XM_011524257.4:c.738C>T, XM_011524257.3:c.738C>T, XM_011524257.2:c.738C>T, XM_011524257.1:c.738C>T, XM_024450556.2:c.1548C>T, XM_024450556.1:c.1548C>T, XM_011524256.2:c.1422C>T, XM_011524256.1:c.1422C>T, XM_047435257.1:c.1422C>T, XM_047435256.1:c.1548C>T, XM_047435254.1:c.1548C>T, XM_047435263.1:c.1422C>T, XM_047435251.1:c.1548C>T, XM_047435252.1:c.1548C>T, XM_047435255.1:c.1548C>T, NR_168289.1:n.1766C>T, XM_047435250.1:c.1548C>T, XM_047435253.1:c.1548C>T, XM_047435261.1:c.1422C>T, NR_168290.1:n.1669C>T, XM_047435258.1:c.1422C>T, XM_047435259.1:c.1422C>T, NM_001374596.1:c.1548C>T, XM_047435260.1:c.1422C>T, NR_168288.1:n.1766C>T, NR_168291.1:n.1719C>T

                                      19.

                                      rs1475518925 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        17:78125784 (GRCh38)
                                        17:76121865 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:78125783:G:A,NC_000017.11:78125783:G:C
                                        Gene:
                                        TMC6 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000006/1 (GnomAD_exomes)
                                        C=0.000035/1 (TOMMO)
                                        HGVS:
                                        NC_000017.11:g.78125784G>A, NC_000017.11:g.78125784G>C, NC_000017.10:g.76121865G>A, NC_000017.10:g.76121865G>C, NG_007879.1:g.11624C>T, NG_007879.1:g.11624C>G, NM_007267.7:c.372C>T, NM_007267.7:c.372C>G, NM_007267.6:c.372C>T, NM_007267.6:c.372C>G, NM_001127198.5:c.372C>T, NM_001127198.5:c.372C>G, NM_001127198.4:c.372C>T, NM_001127198.4:c.372C>G, NM_001127198.3:c.372C>T, NM_001127198.3:c.372C>G, NM_001127198.2:c.372C>T, NM_001127198.2:c.372C>G, NM_001127198.1:c.372C>T, NM_001127198.1:c.372C>G, NM_001374593.1:c.372C>T, NM_001374593.1:c.372C>G, NM_001374594.1:c.372C>T, NM_001374594.1:c.372C>G, NM_001375354.1:c.372C>T, NM_001375354.1:c.372C>G, NM_001375353.1:c.372C>T, NM_001375353.1:c.372C>G, NM_001321185.1:c.372C>T, NM_001321185.1:c.372C>G, NG_007881.1:g.7G>A, NG_007881.1:g.7G>C, XM_024450556.2:c.372C>T, XM_024450556.2:c.372C>G, XM_024450556.1:c.372C>T, XM_024450556.1:c.372C>G, XM_011524256.2:c.372C>T, XM_011524256.2:c.372C>G, XM_011524256.1:c.372C>T, XM_011524256.1:c.372C>G, XM_047435257.1:c.372C>T, XM_047435257.1:c.372C>G, XM_047435272.1:c.372C>T, XM_047435272.1:c.372C>G, XM_047435256.1:c.372C>T, XM_047435256.1:c.372C>G, XM_047435276.1:c.372C>T, XM_047435276.1:c.372C>G, XM_047435254.1:c.372C>T, XM_047435254.1:c.372C>G, XM_047435263.1:c.372C>T, XM_047435263.1:c.372C>G, XM_047435270.1:c.372C>T, XM_047435270.1:c.372C>G, XM_047435275.1:c.372C>T, XM_047435275.1:c.372C>G, XM_047435251.1:c.372C>T, XM_047435251.1:c.372C>G, XM_047435252.1:c.372C>T, XM_047435252.1:c.372C>G, XM_047435255.1:c.372C>T, XM_047435255.1:c.372C>G, NR_168289.1:n.590C>T, NR_168289.1:n.590C>G, XM_047435250.1:c.372C>T, XM_047435250.1:c.372C>G, XM_047435253.1:c.372C>T, XM_047435253.1:c.372C>G, XM_047435261.1:c.372C>T, XM_047435261.1:c.372C>G, NR_168290.1:n.590C>T, NR_168290.1:n.590C>G, XM_047435266.1:c.372C>T, XM_047435266.1:c.372C>G, XM_047435268.1:c.372C>T, XM_047435268.1:c.372C>G, XM_047435258.1:c.372C>T, XM_047435258.1:c.372C>G, XM_047435259.1:c.372C>T, XM_047435259.1:c.372C>G, NM_001374596.1:c.372C>T, NM_001374596.1:c.372C>G, XM_047435267.1:c.372C>T, XM_047435267.1:c.372C>G, XM_047435264.1:c.372C>T, XM_047435264.1:c.372C>G, XM_047435260.1:c.372C>T, XM_047435260.1:c.372C>G, XM_047435265.1:c.372C>T, XM_047435265.1:c.372C>G, XM_047435269.1:c.372C>T, XM_047435269.1:c.372C>G, XM_047435273.1:c.372C>T, XM_047435273.1:c.372C>G, XM_047435274.1:c.372C>T, XM_047435274.1:c.372C>G, NR_168288.1:n.590C>T, NR_168288.1:n.590C>G, NR_168291.1:n.543C>T, NR_168291.1:n.543C>G, XM_047435271.1:c.372C>T, XM_047435271.1:c.372C>G, XM_047435277.1:c.372C>T, XM_047435277.1:c.372C>G, XM_047435278.1:c.372C>T, XM_047435278.1:c.372C>G

                                        20.

                                        rs1475070141 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          17:78124049 (GRCh38)
                                          17:76120130 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:78124048:A:C
                                          Gene:
                                          TMC6 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000017.11:g.78124049A>C, NC_000017.10:g.76120130A>C, NG_007879.1:g.13359T>G, NM_007267.7:c.1022T>G, NM_007267.6:c.1022T>G, NM_001127198.5:c.1022T>G, NM_001127198.4:c.1022T>G, NM_001127198.3:c.1022T>G, NM_001127198.2:c.1022T>G, NM_001127198.1:c.1022T>G, NM_001374593.1:c.1022T>G, NM_001374594.1:c.1022T>G, NM_001375354.1:c.1022T>G, NM_001375353.1:c.1022T>G, NM_001321185.1:c.1022T>G, XM_011524257.4:c.212T>G, XM_011524257.3:c.212T>G, XM_011524257.2:c.212T>G, XM_011524257.1:c.212T>G, XM_024450556.2:c.1022T>G, XM_024450556.1:c.1022T>G, XM_011524256.2:c.896T>G, XM_011524256.1:c.896T>G, XM_047435257.1:c.896T>G, XM_047435272.1:c.896T>G, XM_047435256.1:c.1022T>G, XM_047435276.1:c.1022T>G, XM_047435254.1:c.1022T>G, XM_047435263.1:c.896T>G, XM_047435270.1:c.1022T>G, XM_047435275.1:c.896T>G, XM_047435251.1:c.1022T>G, XM_047435252.1:c.1022T>G, XM_047435255.1:c.1022T>G, NR_168289.1:n.1240T>G, XM_047435250.1:c.1022T>G, XM_047435253.1:c.1022T>G, XM_047435261.1:c.896T>G, NR_168290.1:n.1143T>G, XM_047435266.1:c.1022T>G, XM_047435268.1:c.1022T>G, XM_047435258.1:c.896T>G, XM_047435259.1:c.896T>G, NM_001374596.1:c.1022T>G, XM_047435267.1:c.1022T>G, XM_047435264.1:c.1022T>G, XM_047435260.1:c.896T>G, XM_047435265.1:c.1022T>G, XM_047435269.1:c.1022T>G, XM_047435273.1:c.896T>G, XM_047435274.1:c.896T>G, NR_168288.1:n.1240T>G, NR_168291.1:n.1193T>G, XM_047435271.1:c.1022T>G, XM_047435277.1:c.1022T>G, XM_047435278.1:c.1022T>G, NP_009198.4:p.Leu341Arg, NP_001120670.1:p.Leu341Arg, NP_001361522.1:p.Leu341Arg, NP_001361523.1:p.Leu341Arg, NP_001362283.1:p.Leu341Arg, NP_001362282.1:p.Leu341Arg, NP_001308114.1:p.Leu341Arg, XP_011522559.1:p.Leu71Arg, XP_024306324.1:p.Leu341Arg, XP_011522558.1:p.Leu299Arg, XP_047291213.1:p.Leu299Arg, XP_047291228.1:p.Leu299Arg, XP_047291212.1:p.Leu341Arg, XP_047291232.1:p.Leu341Arg, XP_047291210.1:p.Leu341Arg, XP_047291219.1:p.Leu299Arg, XP_047291226.1:p.Leu341Arg, XP_047291231.1:p.Leu299Arg, XP_047291207.1:p.Leu341Arg, XP_047291208.1:p.Leu341Arg, XP_047291211.1:p.Leu341Arg, XP_047291206.1:p.Leu341Arg, XP_047291209.1:p.Leu341Arg, XP_047291217.1:p.Leu299Arg, XP_047291222.1:p.Leu341Arg, XP_047291224.1:p.Leu341Arg, XP_047291214.1:p.Leu299Arg, XP_047291215.1:p.Leu299Arg, NP_001361525.1:p.Leu341Arg, XP_047291223.1:p.Leu341Arg, XP_047291220.1:p.Leu341Arg, XP_047291216.1:p.Leu299Arg, XP_047291221.1:p.Leu341Arg, XP_047291225.1:p.Leu341Arg, XP_047291229.1:p.Leu299Arg, XP_047291230.1:p.Leu299Arg, XP_047291227.1:p.Leu341Arg, XP_047291233.1:p.Leu341Arg, XP_047291234.1:p.Leu341Arg

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