U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 1000

1.

rs1490935890 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    17:82781702 (GRCh38)
    17:80739578 (GRCh37)
    Canonical SPDI:
    NC_000017.11:82781701:A:G
    Gene:
    TBCD (Varview)
    Functional Consequence:
    upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency,by cluster
    MAF:
    G=0.0002/1 (1000Genomes)
    HGVS:
    NC_000017.11:g.82781702A>G, NC_000017.10:g.80739578A>G, NG_011721.1:g.34639A>G, NM_005993.5:c.752A>G, NM_005993.4:c.752A>G, XM_005256396.5:c.701A>G, XM_006722290.3:c.752A>G, XM_017024988.2:c.752A>G, XM_017024988.1:c.752A>G, XM_017024987.2:c.563A>G, XM_017024987.1:c.563A>G, XM_011523590.2:c.752A>G, XM_011523590.1:c.752A>G, XM_047436626.1:c.701A>G, NM_001411101.1:c.701A>G, NM_001411102.1:c.752A>G, XM_047436615.1:c.701A>G, XM_047436616.1:c.563A>G, XM_047436619.1:c.701A>G, XM_047436617.1:c.752A>G, NM_001033052.1:c.701A>G, XM_047436623.1:c.752A>G, NP_005984.3:p.Asp251Gly, XP_005256453.1:p.Asp234Gly, XP_006722353.1:p.Asp251Gly, XP_016880477.1:p.Asp251Gly, XP_016880476.1:p.Asp188Gly, XP_011521892.1:p.Asp251Gly, XP_047292582.1:p.Asp234Gly, XP_047292571.1:p.Asp234Gly, XP_047292572.1:p.Asp188Gly, XP_047292575.1:p.Asp234Gly, XP_047292573.1:p.Asp251Gly, XP_047292579.1:p.Asp251Gly

    2.

    rs1490141493 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      17:82923705 (GRCh38)
      17:80881581 (GRCh37)
      Canonical SPDI:
      NC_000017.11:82923704:G:A,NC_000017.11:82923704:G:T
      Gene:
      TBCD (Varview)
      Functional Consequence:
      coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000017.11:g.82923705G>A, NC_000017.11:g.82923705G>T, NC_000017.10:g.80881581G>A, NC_000017.10:g.80881581G>T, NG_011721.1:g.176642G>A, NG_011721.1:g.176642G>T, NM_005993.5:c.2232G>A, NM_005993.5:c.2232G>T, NM_005993.4:c.2232G>A, NM_005993.4:c.2232G>T, NT_187612.1:g.177936C>T, NT_187612.1:g.177936C>A, XM_005256399.6:c.948G>A, XM_005256399.6:c.948G>T, XM_005256399.5:c.948G>A, XM_005256399.5:c.948G>T, XM_005256399.4:c.948G>A, XM_005256399.4:c.948G>T, XM_005256399.3:c.948G>A, XM_005256399.3:c.948G>T, XM_005256399.2:c.948G>A, XM_005256399.2:c.948G>T, XM_005256399.1:c.948G>A, XM_005256399.1:c.948G>T, XM_005256396.5:c.2181G>A, XM_005256396.5:c.2181G>T, XM_006722291.5:c.936G>A, XM_006722291.5:c.936G>T, XM_006722291.4:c.936G>A, XM_006722291.4:c.936G>T, XM_006722291.3:c.936G>A, XM_006722291.3:c.936G>T, XM_006722291.2:c.936G>A, XM_006722291.2:c.936G>T, XM_006722291.1:c.936G>A, XM_006722291.1:c.936G>T, XM_005256404.5:c.546G>A, XM_005256404.5:c.546G>T, XM_005256404.4:c.546G>A, XM_005256404.4:c.546G>T, XM_005256404.3:c.546G>A, XM_005256404.3:c.546G>T, XM_005256404.2:c.546G>A, XM_005256404.2:c.546G>T, XM_005256404.1:c.546G>A, XM_005256404.1:c.546G>T, XM_011523595.4:c.927G>A, XM_011523595.4:c.927G>T, XM_011523595.3:c.927G>A, XM_011523595.3:c.927G>T, XM_011523595.2:c.927G>A, XM_011523595.2:c.927G>T, XM_011523595.1:c.927G>A, XM_011523595.1:c.927G>T, XM_011523600.4:c.546G>A, XM_011523600.4:c.546G>T, XM_011523600.3:c.546G>A, XM_011523600.3:c.546G>T, XM_011523600.2:c.546G>A, XM_011523600.2:c.546G>T, XM_011523600.1:c.546G>A, XM_011523600.1:c.546G>T, XM_006722290.3:c.2151G>A, XM_006722290.3:c.2151G>T, XM_011523589.3:c.1887G>A, XM_011523589.3:c.1887G>T, XM_011523589.2:c.1887G>A, XM_011523589.2:c.1887G>T, XM_011523589.1:c.1887G>A, XM_011523589.1:c.1887G>T, XM_011523591.3:c.1806G>A, XM_011523591.3:c.1806G>T, XM_011523591.2:c.1872G>A, XM_011523591.2:c.1872G>T, XM_011523591.1:c.1872G>A, XM_011523591.1:c.1872G>T, XM_011523593.3:c.1479G>A, XM_011523593.3:c.1479G>T, XM_011523593.2:c.1479G>A, XM_011523593.2:c.1479G>T, XM_011523593.1:c.1479G>A, XM_011523593.1:c.1479G>T, XM_011523594.3:c.1140G>A, XM_011523594.3:c.1140G>T, XM_011523594.2:c.960G>A, XM_011523594.2:c.960G>T, XM_011523594.1:c.960G>A, XM_011523594.1:c.960G>T, XM_011523597.3:c.693G>A, XM_011523597.3:c.693G>T, XM_011523597.2:c.693G>A, XM_011523597.2:c.693G>T, XM_011523597.1:c.693G>A, XM_011523597.1:c.693G>T, XM_017024990.3:c.546G>A, XM_017024990.3:c.546G>T, XM_017024990.2:c.546G>A, XM_017024990.2:c.546G>T, XM_017024990.1:c.546G>A, XM_017024990.1:c.546G>T, XM_011523599.3:c.684G>A, XM_011523599.3:c.684G>T, XM_011523599.2:c.684G>A, XM_011523599.2:c.684G>T, XM_011523599.1:c.684G>A, XM_011523599.1:c.684G>T, XM_024450899.2:c.546G>A, XM_024450899.2:c.546G>T, XM_024450899.1:c.546G>A, XM_024450899.1:c.546G>T, XM_017024987.2:c.2043G>A, XM_017024987.2:c.2043G>T, XM_017024987.1:c.2043G>A, XM_017024987.1:c.2043G>T, XM_011523590.2:c.1875G>A, XM_011523590.2:c.1875G>T, XM_011523590.1:c.1875G>A, XM_011523590.1:c.1875G>T, XM_024450902.2:c.546G>A, XM_024450902.2:c.546G>T, XM_024450902.1:c.546G>A, XM_024450902.1:c.546G>T, XM_024450900.2:c.546G>A, XM_024450900.2:c.546G>T, XM_024450900.1:c.546G>A, XM_024450900.1:c.546G>T, XM_011523598.2:c.690G>A, XM_011523598.2:c.690G>T, XM_011523598.1:c.690G>A, XM_011523598.1:c.690G>T, XM_017024989.2:c.594G>A, XM_017024989.2:c.594G>T, XM_017024989.1:c.594G>A, XM_017024989.1:c.594G>T, NM_001411101.1:c.2181G>A, NM_001411101.1:c.2181G>T, NM_001411102.1:c.2151G>A, NM_001411102.1:c.2151G>T, XM_047436615.1:c.2100G>A, XM_047436615.1:c.2100G>T, XM_047436616.1:c.2043G>A, XM_047436616.1:c.2043G>T, XM_047436619.1:c.1824G>A, XM_047436619.1:c.1824G>T, XM_047436618.1:c.1536G>A, XM_047436618.1:c.1536G>T, XM_047436621.1:c.1059G>A, XM_047436621.1:c.1059G>T, XM_047436625.1:c.783G>A, XM_047436625.1:c.783G>T, XM_047436622.1:c.867G>A, XM_047436622.1:c.867G>T, XM_047436629.1:c.546G>A, XM_047436629.1:c.546G>T, XM_047436624.1:c.819G>A, XM_047436624.1:c.819G>T, XM_047436628.1:c.591G>A, XM_047436628.1:c.591G>T, XM_047436617.1:c.2232G>A, XM_047436617.1:c.2232G>T, NP_005984.3:p.Glu744Asp, XP_005256456.1:p.Glu316Asp, XP_005256453.1:p.Glu727Asp, XP_006722354.1:p.Glu312Asp, XP_005256461.1:p.Glu182Asp, XP_011521897.1:p.Glu309Asp, XP_011521902.1:p.Glu182Asp, XP_006722353.1:p.Glu717Asp, XP_011521891.1:p.Glu629Asp, XP_011521893.2:p.Glu602Asp, XP_011521895.1:p.Glu493Asp, XP_011521896.2:p.Glu380Asp, XP_011521899.1:p.Glu231Asp, XP_016880479.1:p.Glu182Asp, XP_011521901.1:p.Glu228Asp, XP_024306667.1:p.Glu182Asp, XP_016880476.1:p.Glu681Asp, XP_011521892.1:p.Glu625Asp, XP_024306670.1:p.Glu182Asp, XP_024306668.1:p.Glu182Asp, XP_011521900.1:p.Glu230Asp, XP_016880478.1:p.Glu198Asp, XP_047292571.1:p.Glu700Asp, XP_047292572.1:p.Glu681Asp, XP_047292575.1:p.Glu608Asp, XP_047292574.1:p.Glu512Asp, XP_047292577.1:p.Glu353Asp, XP_047292581.1:p.Glu261Asp, XP_047292578.1:p.Glu289Asp, XP_047292585.1:p.Glu182Asp, XP_047292580.1:p.Glu273Asp, XP_047292584.1:p.Glu197Asp, XP_047292573.1:p.Glu744Asp

      3.

      rs1489691664 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        17:82766301 (GRCh38)
        17:80724177 (GRCh37)
        Canonical SPDI:
        NC_000017.11:82766300:C:T
        Gene:
        TBCD (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        T=0.000007/1 (GnomAD)
        T=0.000008/2 (TOPMED)
        HGVS:
        NC_000017.11:g.82766301C>T, NC_000017.10:g.80724177C>T, NG_011721.1:g.19238C>T, NM_005993.5:c.368C>T, NM_005993.4:c.368C>T, XM_005256396.5:c.317C>T, XM_006722290.3:c.368C>T, XM_017024988.2:c.368C>T, XM_017024988.1:c.368C>T, XM_017024987.2:c.179C>T, XM_017024987.1:c.179C>T, XM_011523590.2:c.368C>T, XM_011523590.1:c.368C>T, XM_047436626.1:c.317C>T, NM_001411101.1:c.317C>T, NM_001411102.1:c.368C>T, XM_047436615.1:c.317C>T, XM_047436616.1:c.179C>T, XM_047436619.1:c.317C>T, XM_047436617.1:c.368C>T, NM_001033052.1:c.317C>T, XM_047436623.1:c.368C>T, NP_005984.3:p.Pro123Leu, XP_005256453.1:p.Pro106Leu, XP_006722353.1:p.Pro123Leu, XP_016880477.1:p.Pro123Leu, XP_016880476.1:p.Pro60Leu, XP_011521892.1:p.Pro123Leu, XP_047292582.1:p.Pro106Leu, XP_047292571.1:p.Pro106Leu, XP_047292572.1:p.Pro60Leu, XP_047292575.1:p.Pro106Leu, XP_047292573.1:p.Pro123Leu, XP_047292579.1:p.Pro123Leu

        4.

        rs1489243224 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,C [Show Flanks]
          Chromosome:
          17:82937360 (GRCh38)
          17:80895236 (GRCh37)
          Canonical SPDI:
          NC_000017.11:82937359:T:A,NC_000017.11:82937359:T:C
          Gene:
          TBCD (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000021/3 (GnomAD)
          C=0.000038/10 (TOPMED)
          A=0.000106/2 (TOMMO)
          HGVS:
          NC_000017.11:g.82937360T>A, NC_000017.11:g.82937360T>C, NC_000017.10:g.80895236T>A, NC_000017.10:g.80895236T>C, NG_011721.1:g.190297T>A, NG_011721.1:g.190297T>C, NM_005993.5:c.3281T>A, NM_005993.5:c.3281T>C, NM_005993.4:c.3281T>A, NM_005993.4:c.3281T>C, NT_187612.1:g.164273A>T, NT_187612.1:g.164273A>G, XM_005256399.6:c.1997T>A, XM_005256399.6:c.1997T>C, XM_005256399.5:c.1997T>A, XM_005256399.5:c.1997T>C, XM_005256399.4:c.1997T>A, XM_005256399.4:c.1997T>C, XM_005256399.3:c.1997T>A, XM_005256399.3:c.1997T>C, XM_005256399.2:c.1997T>A, XM_005256399.2:c.1997T>C, XM_005256399.1:c.1997T>A, XM_005256399.1:c.1997T>C, XM_005256396.5:c.3230T>A, XM_005256396.5:c.3230T>C, XM_006722291.5:c.1985T>A, XM_006722291.5:c.1985T>C, XM_006722291.4:c.1985T>A, XM_006722291.4:c.1985T>C, XM_006722291.3:c.1985T>A, XM_006722291.3:c.1985T>C, XM_006722291.2:c.1985T>A, XM_006722291.2:c.1985T>C, XM_006722291.1:c.1985T>A, XM_006722291.1:c.1985T>C, XM_005256404.5:c.1595T>A, XM_005256404.5:c.1595T>C, XM_005256404.4:c.1595T>A, XM_005256404.4:c.1595T>C, XM_005256404.3:c.1595T>A, XM_005256404.3:c.1595T>C, XM_005256404.2:c.1595T>A, XM_005256404.2:c.1595T>C, XM_005256404.1:c.1595T>A, XM_005256404.1:c.1595T>C, XM_011523595.4:c.1976T>A, XM_011523595.4:c.1976T>C, XM_011523595.3:c.1976T>A, XM_011523595.3:c.1976T>C, XM_011523595.2:c.1976T>A, XM_011523595.2:c.1976T>C, XM_011523595.1:c.1976T>A, XM_011523595.1:c.1976T>C, XM_011523600.4:c.1595T>A, XM_011523600.4:c.1595T>C, XM_011523600.3:c.1595T>A, XM_011523600.3:c.1595T>C, XM_011523600.2:c.1595T>A, XM_011523600.2:c.1595T>C, XM_011523600.1:c.1595T>A, XM_011523600.1:c.1595T>C, XM_006722290.3:c.3200T>A, XM_006722290.3:c.3200T>C, XM_011523589.3:c.2936T>A, XM_011523589.3:c.2936T>C, XM_011523589.2:c.2936T>A, XM_011523589.2:c.2936T>C, XM_011523589.1:c.2936T>A, XM_011523589.1:c.2936T>C, XM_011523591.3:c.2855T>A, XM_011523591.3:c.2855T>C, XM_011523591.2:c.2921T>A, XM_011523591.2:c.2921T>C, XM_011523591.1:c.2921T>A, XM_011523591.1:c.2921T>C, XM_011523593.3:c.2528T>A, XM_011523593.3:c.2528T>C, XM_011523593.2:c.2528T>A, XM_011523593.2:c.2528T>C, XM_011523593.1:c.2528T>A, XM_011523593.1:c.2528T>C, XM_011523594.3:c.2189T>A, XM_011523594.3:c.2189T>C, XM_011523594.2:c.2009T>A, XM_011523594.2:c.2009T>C, XM_011523594.1:c.2009T>A, XM_011523594.1:c.2009T>C, XM_011523597.3:c.1742T>A, XM_011523597.3:c.1742T>C, XM_011523597.2:c.1742T>A, XM_011523597.2:c.1742T>C, XM_011523597.1:c.1742T>A, XM_011523597.1:c.1742T>C, XM_017024990.3:c.1595T>A, XM_017024990.3:c.1595T>C, XM_017024990.2:c.1595T>A, XM_017024990.2:c.1595T>C, XM_017024990.1:c.1595T>A, XM_017024990.1:c.1595T>C, XM_011523599.3:c.1733T>A, XM_011523599.3:c.1733T>C, XM_011523599.2:c.1733T>A, XM_011523599.2:c.1733T>C, XM_011523599.1:c.1733T>A, XM_011523599.1:c.1733T>C, XM_024450900.2:c.1595T>A, XM_024450900.2:c.1595T>C, XM_024450900.1:c.1595T>A, XM_024450900.1:c.1595T>C, XM_011523598.2:c.1739T>A, XM_011523598.2:c.1739T>C, XM_011523598.1:c.1739T>A, XM_011523598.1:c.1739T>C, XM_017024989.2:c.1643T>A, XM_017024989.2:c.1643T>C, XM_017024989.1:c.1643T>A, XM_017024989.1:c.1643T>C, NM_001411101.1:c.3230T>A, NM_001411101.1:c.3230T>C, NM_001411102.1:c.3200T>A, NM_001411102.1:c.3200T>C, XM_047436615.1:c.3149T>A, XM_047436615.1:c.3149T>C, XM_047436616.1:c.3092T>A, XM_047436616.1:c.3092T>C, XM_011523590.2:c.2924T>A, XM_011523590.2:c.2924T>C, XM_011523590.1:c.2924T>A, XM_011523590.1:c.2924T>C, XM_047436619.1:c.2873T>A, XM_047436619.1:c.2873T>C, XM_024450899.2:c.1595T>A, XM_024450899.2:c.1595T>C, XM_024450899.1:c.1595T>A, XM_024450899.1:c.1595T>C, XM_017024987.2:c.3092T>A, XM_017024987.2:c.3092T>C, XM_017024987.1:c.3092T>A, XM_017024987.1:c.3092T>C, XM_024450902.2:c.1595T>A, XM_024450902.2:c.1595T>C, XM_024450902.1:c.1595T>A, XM_024450902.1:c.1595T>C, XM_047436618.1:c.2585T>A, XM_047436618.1:c.2585T>C, XM_047436621.1:c.2108T>A, XM_047436621.1:c.2108T>C, XM_047436625.1:c.1832T>A, XM_047436625.1:c.1832T>C, XM_047436622.1:c.1916T>A, XM_047436622.1:c.1916T>C, XM_047436629.1:c.1595T>A, XM_047436629.1:c.1595T>C, XM_047436624.1:c.1868T>A, XM_047436624.1:c.1868T>C, XM_047436628.1:c.1640T>A, XM_047436628.1:c.1640T>C, XM_047436617.1:c.3281T>A, XM_047436617.1:c.3281T>C, NP_005984.3:p.Val1094Glu, NP_005984.3:p.Val1094Ala, XP_005256456.1:p.Val666Glu, XP_005256456.1:p.Val666Ala, XP_005256453.1:p.Val1077Glu, XP_005256453.1:p.Val1077Ala, XP_006722354.1:p.Val662Glu, XP_006722354.1:p.Val662Ala, XP_005256461.1:p.Val532Glu, XP_005256461.1:p.Val532Ala, XP_011521897.1:p.Val659Glu, XP_011521897.1:p.Val659Ala, XP_011521902.1:p.Val532Glu, XP_011521902.1:p.Val532Ala, XP_006722353.1:p.Val1067Glu, XP_006722353.1:p.Val1067Ala, XP_011521891.1:p.Val979Glu, XP_011521891.1:p.Val979Ala, XP_011521893.2:p.Val952Glu, XP_011521893.2:p.Val952Ala, XP_011521895.1:p.Val843Glu, XP_011521895.1:p.Val843Ala, XP_011521896.2:p.Val730Glu, XP_011521896.2:p.Val730Ala, XP_011521899.1:p.Val581Glu, XP_011521899.1:p.Val581Ala, XP_016880479.1:p.Val532Glu, XP_016880479.1:p.Val532Ala, XP_011521901.1:p.Val578Glu, XP_011521901.1:p.Val578Ala, XP_024306668.1:p.Val532Glu, XP_024306668.1:p.Val532Ala, XP_011521900.1:p.Val580Glu, XP_011521900.1:p.Val580Ala, XP_016880478.1:p.Val548Glu, XP_016880478.1:p.Val548Ala, XP_047292571.1:p.Val1050Glu, XP_047292571.1:p.Val1050Ala, XP_047292572.1:p.Val1031Glu, XP_047292572.1:p.Val1031Ala, XP_011521892.1:p.Val975Glu, XP_011521892.1:p.Val975Ala, XP_047292575.1:p.Val958Glu, XP_047292575.1:p.Val958Ala, XP_024306667.1:p.Val532Glu, XP_024306667.1:p.Val532Ala, XP_016880476.1:p.Val1031Glu, XP_016880476.1:p.Val1031Ala, XP_024306670.1:p.Val532Glu, XP_024306670.1:p.Val532Ala, XP_047292574.1:p.Val862Glu, XP_047292574.1:p.Val862Ala, XP_047292577.1:p.Val703Glu, XP_047292577.1:p.Val703Ala, XP_047292581.1:p.Val611Glu, XP_047292581.1:p.Val611Ala, XP_047292578.1:p.Val639Glu, XP_047292578.1:p.Val639Ala, XP_047292585.1:p.Val532Glu, XP_047292585.1:p.Val532Ala, XP_047292580.1:p.Val623Glu, XP_047292580.1:p.Val623Ala, XP_047292584.1:p.Val547Glu, XP_047292584.1:p.Val547Ala, XP_047292573.1:p.Val1094Glu, XP_047292573.1:p.Val1094Ala

          5.

          rs1487690279 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            17:82797763 (GRCh38)
            17:80755639 (GRCh37)
            Canonical SPDI:
            NC_000017.11:82797762:A:T
            Gene:
            TBCD (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
            HGVS:
            NC_000017.11:g.82797763A>T, NC_000017.10:g.80755639A>T, NG_011721.1:g.50700A>T, NM_005993.5:c.778A>T, NM_005993.4:c.778A>T, XM_005256396.5:c.727A>T, XM_006722290.3:c.778A>T, XM_011523589.3:c.433A>T, XM_011523589.2:c.433A>T, XM_011523589.1:c.433A>T, XM_011523591.3:c.352A>T, XM_011523591.2:c.418A>T, XM_011523591.1:c.418A>T, XM_011523593.3:c.25A>T, XM_011523593.2:c.25A>T, XM_011523593.1:c.25A>T, XM_017024988.2:c.778A>T, XM_017024988.1:c.778A>T, XM_017024987.2:c.589A>T, XM_017024987.1:c.589A>T, XM_011523590.2:c.778A>T, XM_011523590.1:c.778A>T, XM_047436626.1:c.727A>T, NM_001411101.1:c.727A>T, NM_001411102.1:c.778A>T, XM_047436615.1:c.727A>T, XM_047436616.1:c.589A>T, XM_047436619.1:c.727A>T, XM_047436618.1:c.82A>T, XM_047436617.1:c.778A>T, NM_001033052.1:c.727A>T, XM_047436623.1:c.778A>T, NP_005984.3:p.Ile260Leu, XP_005256453.1:p.Ile243Leu, XP_006722353.1:p.Ile260Leu, XP_011521891.1:p.Ile145Leu, XP_011521893.2:p.Ile118Leu, XP_011521895.1:p.Ile9Leu, XP_016880477.1:p.Ile260Leu, XP_016880476.1:p.Ile197Leu, XP_011521892.1:p.Ile260Leu, XP_047292582.1:p.Ile243Leu, XP_047292571.1:p.Ile243Leu, XP_047292572.1:p.Ile197Leu, XP_047292575.1:p.Ile243Leu, XP_047292574.1:p.Ile28Leu, XP_047292573.1:p.Ile260Leu, XP_047292579.1:p.Ile260Leu

            6.

            rs1487242278 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              17:82929220 (GRCh38)
              17:80887096 (GRCh37)
              Canonical SPDI:
              NC_000017.11:82929219:C:T
              Gene:
              TBCD (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0.000111/1 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000017.11:g.82929220C>T, NC_000017.10:g.80887096C>T, NG_011721.1:g.182157C>T, NM_005993.5:c.2801C>T, NM_005993.4:c.2801C>T, NT_187612.1:g.172421G>A, XM_005256399.6:c.1517C>T, XM_005256399.5:c.1517C>T, XM_005256399.4:c.1517C>T, XM_005256399.3:c.1517C>T, XM_005256399.2:c.1517C>T, XM_005256399.1:c.1517C>T, XM_005256396.5:c.2750C>T, XM_006722291.5:c.1505C>T, XM_006722291.4:c.1505C>T, XM_006722291.3:c.1505C>T, XM_006722291.2:c.1505C>T, XM_006722291.1:c.1505C>T, XM_005256404.5:c.1115C>T, XM_005256404.4:c.1115C>T, XM_005256404.3:c.1115C>T, XM_005256404.2:c.1115C>T, XM_005256404.1:c.1115C>T, XM_011523595.4:c.1496C>T, XM_011523595.3:c.1496C>T, XM_011523595.2:c.1496C>T, XM_011523595.1:c.1496C>T, XM_011523600.4:c.1115C>T, XM_011523600.3:c.1115C>T, XM_011523600.2:c.1115C>T, XM_011523600.1:c.1115C>T, XM_006722290.3:c.2720C>T, XM_011523589.3:c.2456C>T, XM_011523589.2:c.2456C>T, XM_011523589.1:c.2456C>T, XM_011523591.3:c.2375C>T, XM_011523591.2:c.2441C>T, XM_011523591.1:c.2441C>T, XM_011523593.3:c.2048C>T, XM_011523593.2:c.2048C>T, XM_011523593.1:c.2048C>T, XM_011523594.3:c.1709C>T, XM_011523594.2:c.1529C>T, XM_011523594.1:c.1529C>T, XM_011523597.3:c.1262C>T, XM_011523597.2:c.1262C>T, XM_011523597.1:c.1262C>T, XM_017024990.3:c.1115C>T, XM_017024990.2:c.1115C>T, XM_017024990.1:c.1115C>T, XM_011523599.3:c.1253C>T, XM_011523599.2:c.1253C>T, XM_011523599.1:c.1253C>T, XM_024450900.2:c.1115C>T, XM_024450900.1:c.1115C>T, XM_011523598.2:c.1259C>T, XM_011523598.1:c.1259C>T, XM_017024989.2:c.1163C>T, XM_017024989.1:c.1163C>T, NM_001411101.1:c.2750C>T, NM_001411102.1:c.2720C>T, XM_047436615.1:c.2669C>T, XM_047436616.1:c.2612C>T, XM_011523590.2:c.2444C>T, XM_011523590.1:c.2444C>T, XM_047436619.1:c.2393C>T, XM_024450899.2:c.1115C>T, XM_024450899.1:c.1115C>T, XM_017024987.2:c.2612C>T, XM_017024987.1:c.2612C>T, XM_024450902.2:c.1115C>T, XM_024450902.1:c.1115C>T, XM_047436618.1:c.2105C>T, XM_047436621.1:c.1628C>T, XM_047436625.1:c.1352C>T, XM_047436622.1:c.1436C>T, XM_047436629.1:c.1115C>T, XM_047436624.1:c.1388C>T, XM_047436628.1:c.1160C>T, XM_047436617.1:c.2801C>T, NP_005984.3:p.Pro934Leu, XP_005256456.1:p.Pro506Leu, XP_005256453.1:p.Pro917Leu, XP_006722354.1:p.Pro502Leu, XP_005256461.1:p.Pro372Leu, XP_011521897.1:p.Pro499Leu, XP_011521902.1:p.Pro372Leu, XP_006722353.1:p.Pro907Leu, XP_011521891.1:p.Pro819Leu, XP_011521893.2:p.Pro792Leu, XP_011521895.1:p.Pro683Leu, XP_011521896.2:p.Pro570Leu, XP_011521899.1:p.Pro421Leu, XP_016880479.1:p.Pro372Leu, XP_011521901.1:p.Pro418Leu, XP_024306668.1:p.Pro372Leu, XP_011521900.1:p.Pro420Leu, XP_016880478.1:p.Pro388Leu, XP_047292571.1:p.Pro890Leu, XP_047292572.1:p.Pro871Leu, XP_011521892.1:p.Pro815Leu, XP_047292575.1:p.Pro798Leu, XP_024306667.1:p.Pro372Leu, XP_016880476.1:p.Pro871Leu, XP_024306670.1:p.Pro372Leu, XP_047292574.1:p.Pro702Leu, XP_047292577.1:p.Pro543Leu, XP_047292581.1:p.Pro451Leu, XP_047292578.1:p.Pro479Leu, XP_047292585.1:p.Pro372Leu, XP_047292580.1:p.Pro463Leu, XP_047292584.1:p.Pro387Leu, XP_047292573.1:p.Pro934Leu

              7.

              rs1487191776 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                17:82927256 (GRCh38)
                17:80885132 (GRCh37)
                Canonical SPDI:
                NC_000017.11:82927255:A:G
                Gene:
                TBCD (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                HGVS:
                NC_000017.11:g.82927256A>G, NC_000017.10:g.80885132A>G, NG_011721.1:g.180193A>G, NM_005993.5:c.2542A>G, NM_005993.4:c.2542A>G, NT_187612.1:g.174385T>C, XM_005256399.6:c.1258A>G, XM_005256399.5:c.1258A>G, XM_005256399.4:c.1258A>G, XM_005256399.3:c.1258A>G, XM_005256399.2:c.1258A>G, XM_005256399.1:c.1258A>G, XM_005256396.5:c.2491A>G, XM_006722291.5:c.1246A>G, XM_006722291.4:c.1246A>G, XM_006722291.3:c.1246A>G, XM_006722291.2:c.1246A>G, XM_006722291.1:c.1246A>G, XM_005256404.5:c.856A>G, XM_005256404.4:c.856A>G, XM_005256404.3:c.856A>G, XM_005256404.2:c.856A>G, XM_005256404.1:c.856A>G, XM_011523595.4:c.1237A>G, XM_011523595.3:c.1237A>G, XM_011523595.2:c.1237A>G, XM_011523595.1:c.1237A>G, XM_011523600.4:c.856A>G, XM_011523600.3:c.856A>G, XM_011523600.2:c.856A>G, XM_011523600.1:c.856A>G, XM_006722290.3:c.2461A>G, XM_011523589.3:c.2197A>G, XM_011523589.2:c.2197A>G, XM_011523589.1:c.2197A>G, XM_011523591.3:c.2116A>G, XM_011523591.2:c.2182A>G, XM_011523591.1:c.2182A>G, XM_011523593.3:c.1789A>G, XM_011523593.2:c.1789A>G, XM_011523593.1:c.1789A>G, XM_011523594.3:c.1450A>G, XM_011523594.2:c.1270A>G, XM_011523594.1:c.1270A>G, XM_011523597.3:c.1003A>G, XM_011523597.2:c.1003A>G, XM_011523597.1:c.1003A>G, XM_017024990.3:c.856A>G, XM_017024990.2:c.856A>G, XM_017024990.1:c.856A>G, XM_011523599.3:c.994A>G, XM_011523599.2:c.994A>G, XM_011523599.1:c.994A>G, XM_024450900.2:c.856A>G, XM_024450900.1:c.856A>G, XM_011523598.2:c.1000A>G, XM_011523598.1:c.1000A>G, XM_017024989.2:c.904A>G, XM_017024989.1:c.904A>G, NM_001411101.1:c.2491A>G, NM_001411102.1:c.2461A>G, XM_047436615.1:c.2410A>G, XM_047436616.1:c.2353A>G, XM_011523590.2:c.2185A>G, XM_011523590.1:c.2185A>G, XM_047436619.1:c.2134A>G, XM_024450899.2:c.856A>G, XM_024450899.1:c.856A>G, XM_017024987.2:c.2353A>G, XM_017024987.1:c.2353A>G, XM_024450902.2:c.856A>G, XM_024450902.1:c.856A>G, XM_047436618.1:c.1846A>G, XM_047436621.1:c.1369A>G, XM_047436625.1:c.1093A>G, XM_047436622.1:c.1177A>G, XM_047436629.1:c.856A>G, XM_047436624.1:c.1129A>G, XM_047436628.1:c.901A>G, XM_047436617.1:c.2542A>G, NP_005984.3:p.Ile848Val, XP_005256456.1:p.Ile420Val, XP_005256453.1:p.Ile831Val, XP_006722354.1:p.Ile416Val, XP_005256461.1:p.Ile286Val, XP_011521897.1:p.Ile413Val, XP_011521902.1:p.Ile286Val, XP_006722353.1:p.Ile821Val, XP_011521891.1:p.Ile733Val, XP_011521893.2:p.Ile706Val, XP_011521895.1:p.Ile597Val, XP_011521896.2:p.Ile484Val, XP_011521899.1:p.Ile335Val, XP_016880479.1:p.Ile286Val, XP_011521901.1:p.Ile332Val, XP_024306668.1:p.Ile286Val, XP_011521900.1:p.Ile334Val, XP_016880478.1:p.Ile302Val, XP_047292571.1:p.Ile804Val, XP_047292572.1:p.Ile785Val, XP_011521892.1:p.Ile729Val, XP_047292575.1:p.Ile712Val, XP_024306667.1:p.Ile286Val, XP_016880476.1:p.Ile785Val, XP_024306670.1:p.Ile286Val, XP_047292574.1:p.Ile616Val, XP_047292577.1:p.Ile457Val, XP_047292581.1:p.Ile365Val, XP_047292578.1:p.Ile393Val, XP_047292585.1:p.Ile286Val, XP_047292580.1:p.Ile377Val, XP_047292584.1:p.Ile301Val, XP_047292573.1:p.Ile848Val

                8.

                rs1486251597 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  17:82870329 (GRCh38)
                  17:80828205 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:82870328:C:T
                  Gene:
                  TBCD (Varview), LOC124904096 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000017.11:g.82870329C>T, NC_000017.10:g.80828205C>T, NG_011721.1:g.123266C>T, NM_005993.5:c.1424C>T, NM_005993.4:c.1424C>T, XM_005256399.6:c.140C>T, XM_005256399.5:c.140C>T, XM_005256399.4:c.140C>T, XM_005256399.3:c.140C>T, XM_005256399.2:c.140C>T, XM_005256399.1:c.140C>T, XM_005256396.5:c.1373C>T, XM_006722291.5:c.128C>T, XM_006722291.4:c.128C>T, XM_006722291.3:c.128C>T, XM_006722291.2:c.128C>T, XM_006722291.1:c.128C>T, XM_006722290.3:c.1424C>T, XM_011523589.3:c.1079C>T, XM_011523589.2:c.1079C>T, XM_011523589.1:c.1079C>T, XM_011523591.3:c.998C>T, XM_011523591.2:c.1064C>T, XM_011523591.1:c.1064C>T, XM_011523593.3:c.671C>T, XM_011523593.2:c.671C>T, XM_011523593.1:c.671C>T, XM_017024990.3:c.-263C>T, XM_017024990.2:c.-263C>T, XM_017024990.1:c.-263C>T, XM_024450899.2:c.-263C>T, XM_024450899.1:c.-263C>T, XM_017024988.2:c.1424C>T, XM_017024988.1:c.1424C>T, XM_017024987.2:c.1235C>T, XM_017024987.1:c.1235C>T, XM_011523590.2:c.1424C>T, XM_011523590.1:c.1424C>T, XM_024450902.2:c.-263C>T, XM_024450902.1:c.-263C>T, XM_024450900.2:c.-263C>T, XM_024450900.1:c.-263C>T, XM_047436626.1:c.1373C>T, NM_001411101.1:c.1373C>T, NM_001411102.1:c.1424C>T, XM_047436615.1:c.1373C>T, XM_047436616.1:c.1235C>T, XM_047436619.1:c.1373C>T, XM_047436618.1:c.728C>T, XM_047436622.1:c.140C>T, XM_047436628.1:c.140C>T, XR_007065971.1:n.2298G>A, XM_047436617.1:c.1424C>T, NM_001033052.1:c.1373C>T, XM_047436623.1:c.1424C>T, NP_005984.3:p.Ala475Val, XP_005256456.1:p.Ala47Val, XP_005256453.1:p.Ala458Val, XP_006722354.1:p.Ala43Val, XP_006722353.1:p.Ala475Val, XP_011521891.1:p.Ala360Val, XP_011521893.2:p.Ala333Val, XP_011521895.1:p.Ala224Val, XP_016880477.1:p.Ala475Val, XP_016880476.1:p.Ala412Val, XP_011521892.1:p.Ala475Val, XP_047292582.1:p.Ala458Val, XP_047292571.1:p.Ala458Val, XP_047292572.1:p.Ala412Val, XP_047292575.1:p.Ala458Val, XP_047292574.1:p.Ala243Val, XP_047292578.1:p.Ala47Val, XP_047292584.1:p.Ala47Val, XP_047292573.1:p.Ala475Val, XP_047292579.1:p.Ala475Val

                  9.

                  rs1485397570 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    17:82938100 (GRCh38)
                    17:80895976 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:82938099:G:A
                    Gene:
                    TBCD (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
                    HGVS:
                    NC_000017.11:g.82938100G>A, NC_000017.10:g.80895976G>A, NG_011721.1:g.191037G>A, NM_005993.5:c.3333G>A, NM_005993.4:c.3333G>A, NT_187612.1:g.163533C>T, XM_005256399.6:c.2049G>A, XM_005256399.5:c.2049G>A, XM_005256399.4:c.2049G>A, XM_005256399.3:c.2049G>A, XM_005256399.2:c.2049G>A, XM_005256399.1:c.2049G>A, XM_005256396.5:c.3282G>A, XM_006722291.5:c.2037G>A, XM_006722291.4:c.2037G>A, XM_006722291.3:c.2037G>A, XM_006722291.2:c.2037G>A, XM_006722291.1:c.2037G>A, XM_005256404.5:c.1647G>A, XM_005256404.4:c.1647G>A, XM_005256404.3:c.1647G>A, XM_005256404.2:c.1647G>A, XM_005256404.1:c.1647G>A, XM_011523595.4:c.2028G>A, XM_011523595.3:c.2028G>A, XM_011523595.2:c.2028G>A, XM_011523595.1:c.2028G>A, XM_011523600.4:c.1647G>A, XM_011523600.3:c.1647G>A, XM_011523600.2:c.1647G>A, XM_011523600.1:c.1647G>A, XM_006722290.3:c.3252G>A, XM_011523589.3:c.2988G>A, XM_011523589.2:c.2988G>A, XM_011523589.1:c.2988G>A, XM_011523591.3:c.2907G>A, XM_011523591.2:c.2973G>A, XM_011523591.1:c.2973G>A, XM_011523593.3:c.2580G>A, XM_011523593.2:c.2580G>A, XM_011523593.1:c.2580G>A, XM_011523594.3:c.2241G>A, XM_011523594.2:c.2061G>A, XM_011523594.1:c.2061G>A, XM_011523597.3:c.1794G>A, XM_011523597.2:c.1794G>A, XM_011523597.1:c.1794G>A, XM_017024990.3:c.1647G>A, XM_017024990.2:c.1647G>A, XM_017024990.1:c.1647G>A, XM_011523599.3:c.1785G>A, XM_011523599.2:c.1785G>A, XM_011523599.1:c.1785G>A, XM_024450900.2:c.1647G>A, XM_024450900.1:c.1647G>A, XM_011523598.2:c.1791G>A, XM_011523598.1:c.1791G>A, XM_017024989.2:c.1695G>A, XM_017024989.1:c.1695G>A, NM_001411101.1:c.3282G>A, NM_001411102.1:c.3252G>A, XM_047436615.1:c.3201G>A, XM_047436616.1:c.3144G>A, XM_011523590.2:c.2976G>A, XM_011523590.1:c.2976G>A, XM_047436619.1:c.2925G>A, XM_024450899.2:c.1647G>A, XM_024450899.1:c.1647G>A, XM_017024987.2:c.3144G>A, XM_017024987.1:c.3144G>A, XM_024450902.2:c.1647G>A, XM_024450902.1:c.1647G>A, XM_047436618.1:c.2637G>A, XM_047436621.1:c.2160G>A, XM_047436625.1:c.1884G>A, XM_047436622.1:c.1968G>A, XM_047436629.1:c.1647G>A, XM_047436624.1:c.1920G>A, XM_047436628.1:c.1692G>A

                    10.

                    rs1484612403 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      17:82930569 (GRCh38)
                      17:80888445 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:82930568:G:A
                      Gene:
                      TBCD (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000017.11:g.82930569G>A, NC_000017.10:g.80888445G>A, NG_011721.1:g.183506G>A, NM_005993.5:c.3039G>A, NM_005993.4:c.3039G>A, NT_187612.1:g.171072C>T, XM_005256399.6:c.1755G>A, XM_005256399.5:c.1755G>A, XM_005256399.4:c.1755G>A, XM_005256399.3:c.1755G>A, XM_005256399.2:c.1755G>A, XM_005256399.1:c.1755G>A, XM_005256396.5:c.2988G>A, XM_006722291.5:c.1743G>A, XM_006722291.4:c.1743G>A, XM_006722291.3:c.1743G>A, XM_006722291.2:c.1743G>A, XM_006722291.1:c.1743G>A, XM_005256404.5:c.1353G>A, XM_005256404.4:c.1353G>A, XM_005256404.3:c.1353G>A, XM_005256404.2:c.1353G>A, XM_005256404.1:c.1353G>A, XM_011523595.4:c.1734G>A, XM_011523595.3:c.1734G>A, XM_011523595.2:c.1734G>A, XM_011523595.1:c.1734G>A, XM_011523600.4:c.1353G>A, XM_011523600.3:c.1353G>A, XM_011523600.2:c.1353G>A, XM_011523600.1:c.1353G>A, XM_006722290.3:c.2958G>A, XM_011523589.3:c.2694G>A, XM_011523589.2:c.2694G>A, XM_011523589.1:c.2694G>A, XM_011523591.3:c.2613G>A, XM_011523591.2:c.2679G>A, XM_011523591.1:c.2679G>A, XM_011523593.3:c.2286G>A, XM_011523593.2:c.2286G>A, XM_011523593.1:c.2286G>A, XM_011523594.3:c.1947G>A, XM_011523594.2:c.1767G>A, XM_011523594.1:c.1767G>A, XM_011523597.3:c.1500G>A, XM_011523597.2:c.1500G>A, XM_011523597.1:c.1500G>A, XM_017024990.3:c.1353G>A, XM_017024990.2:c.1353G>A, XM_017024990.1:c.1353G>A, XM_011523599.3:c.1491G>A, XM_011523599.2:c.1491G>A, XM_011523599.1:c.1491G>A, XM_024450900.2:c.1353G>A, XM_024450900.1:c.1353G>A, XM_011523598.2:c.1497G>A, XM_011523598.1:c.1497G>A, XM_017024989.2:c.1401G>A, XM_017024989.1:c.1401G>A, NM_001411101.1:c.2988G>A, NM_001411102.1:c.2958G>A, XM_047436615.1:c.2907G>A, XM_047436616.1:c.2850G>A, XM_011523590.2:c.2682G>A, XM_011523590.1:c.2682G>A, XM_047436619.1:c.2631G>A, XM_024450899.2:c.1353G>A, XM_024450899.1:c.1353G>A, XM_017024987.2:c.2850G>A, XM_017024987.1:c.2850G>A, XM_024450902.2:c.1353G>A, XM_024450902.1:c.1353G>A, XM_047436618.1:c.2343G>A, XM_047436621.1:c.1866G>A, XM_047436625.1:c.1590G>A, XM_047436622.1:c.1674G>A, XM_047436629.1:c.1353G>A, XM_047436624.1:c.1626G>A, XM_047436628.1:c.1398G>A, XM_047436617.1:c.3039G>A

                      11.

                      rs1484403052 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        17:82925033 (GRCh38)
                        17:80882909 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:82925032:C:T
                        Gene:
                        TBCD (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000017.11:g.82925033C>T, NC_000017.10:g.80882909C>T, NG_011721.1:g.177970C>T, NM_005993.5:c.2355C>T, NM_005993.4:c.2355C>T, NT_187612.1:g.176608G>A, XM_005256399.6:c.1071C>T, XM_005256399.5:c.1071C>T, XM_005256399.4:c.1071C>T, XM_005256399.3:c.1071C>T, XM_005256399.2:c.1071C>T, XM_005256399.1:c.1071C>T, XM_005256396.5:c.2304C>T, XM_006722291.5:c.1059C>T, XM_006722291.4:c.1059C>T, XM_006722291.3:c.1059C>T, XM_006722291.2:c.1059C>T, XM_006722291.1:c.1059C>T, XM_005256404.5:c.669C>T, XM_005256404.4:c.669C>T, XM_005256404.3:c.669C>T, XM_005256404.2:c.669C>T, XM_005256404.1:c.669C>T, XM_011523595.4:c.1050C>T, XM_011523595.3:c.1050C>T, XM_011523595.2:c.1050C>T, XM_011523595.1:c.1050C>T, XM_011523600.4:c.669C>T, XM_011523600.3:c.669C>T, XM_011523600.2:c.669C>T, XM_011523600.1:c.669C>T, XM_006722290.3:c.2274C>T, XM_011523589.3:c.2010C>T, XM_011523589.2:c.2010C>T, XM_011523589.1:c.2010C>T, XM_011523591.3:c.1929C>T, XM_011523591.2:c.1995C>T, XM_011523591.1:c.1995C>T, XM_011523593.3:c.1602C>T, XM_011523593.2:c.1602C>T, XM_011523593.1:c.1602C>T, XM_011523594.3:c.1263C>T, XM_011523594.2:c.1083C>T, XM_011523594.1:c.1083C>T, XM_011523597.3:c.816C>T, XM_011523597.2:c.816C>T, XM_011523597.1:c.816C>T, XM_017024990.3:c.669C>T, XM_017024990.2:c.669C>T, XM_017024990.1:c.669C>T, XM_011523599.3:c.807C>T, XM_011523599.2:c.807C>T, XM_011523599.1:c.807C>T, XM_024450899.2:c.669C>T, XM_024450899.1:c.669C>T, XM_017024987.2:c.2166C>T, XM_017024987.1:c.2166C>T, XM_011523590.2:c.1998C>T, XM_011523590.1:c.1998C>T, XM_024450902.2:c.669C>T, XM_024450902.1:c.669C>T, XM_024450900.2:c.669C>T, XM_024450900.1:c.669C>T, XM_011523598.2:c.813C>T, XM_011523598.1:c.813C>T, XM_017024989.2:c.717C>T, XM_017024989.1:c.717C>T, NM_001411101.1:c.2304C>T, NM_001411102.1:c.2274C>T, XM_047436615.1:c.2223C>T, XM_047436616.1:c.2166C>T, XM_047436619.1:c.1947C>T, XM_047436618.1:c.1659C>T, XM_047436621.1:c.1182C>T, XM_047436625.1:c.906C>T, XM_047436622.1:c.990C>T, XM_047436629.1:c.669C>T, XM_047436624.1:c.942C>T, XM_047436628.1:c.714C>T, XM_047436617.1:c.2355C>T, XM_047436623.1:c.*86C>T

                        12.

                        rs1484337437 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          17:82927191 (GRCh38)
                          17:80885067 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:82927190:G:T
                          Gene:
                          TBCD (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000017.11:g.82927191G>T, NC_000017.10:g.80885067G>T, NG_011721.1:g.180128G>T, NM_005993.5:c.2477G>T, NM_005993.4:c.2477G>T, NT_187612.1:g.174450C>A, XM_005256399.6:c.1193G>T, XM_005256399.5:c.1193G>T, XM_005256399.4:c.1193G>T, XM_005256399.3:c.1193G>T, XM_005256399.2:c.1193G>T, XM_005256399.1:c.1193G>T, XM_005256396.5:c.2426G>T, XM_006722291.5:c.1181G>T, XM_006722291.4:c.1181G>T, XM_006722291.3:c.1181G>T, XM_006722291.2:c.1181G>T, XM_006722291.1:c.1181G>T, XM_005256404.5:c.791G>T, XM_005256404.4:c.791G>T, XM_005256404.3:c.791G>T, XM_005256404.2:c.791G>T, XM_005256404.1:c.791G>T, XM_011523595.4:c.1172G>T, XM_011523595.3:c.1172G>T, XM_011523595.2:c.1172G>T, XM_011523595.1:c.1172G>T, XM_011523600.4:c.791G>T, XM_011523600.3:c.791G>T, XM_011523600.2:c.791G>T, XM_011523600.1:c.791G>T, XM_006722290.3:c.2396G>T, XM_011523589.3:c.2132G>T, XM_011523589.2:c.2132G>T, XM_011523589.1:c.2132G>T, XM_011523591.3:c.2051G>T, XM_011523591.2:c.2117G>T, XM_011523591.1:c.2117G>T, XM_011523593.3:c.1724G>T, XM_011523593.2:c.1724G>T, XM_011523593.1:c.1724G>T, XM_011523594.3:c.1385G>T, XM_011523594.2:c.1205G>T, XM_011523594.1:c.1205G>T, XM_011523597.3:c.938G>T, XM_011523597.2:c.938G>T, XM_011523597.1:c.938G>T, XM_017024990.3:c.791G>T, XM_017024990.2:c.791G>T, XM_017024990.1:c.791G>T, XM_011523599.3:c.929G>T, XM_011523599.2:c.929G>T, XM_011523599.1:c.929G>T, XM_024450900.2:c.791G>T, XM_024450900.1:c.791G>T, XM_011523598.2:c.935G>T, XM_011523598.1:c.935G>T, XM_017024989.2:c.839G>T, XM_017024989.1:c.839G>T, NM_001411101.1:c.2426G>T, NM_001411102.1:c.2396G>T, XM_047436615.1:c.2345G>T, XM_047436616.1:c.2288G>T, XM_011523590.2:c.2120G>T, XM_011523590.1:c.2120G>T, XM_047436619.1:c.2069G>T, XM_024450899.2:c.791G>T, XM_024450899.1:c.791G>T, XM_017024987.2:c.2288G>T, XM_017024987.1:c.2288G>T, XM_024450902.2:c.791G>T, XM_024450902.1:c.791G>T, XM_047436618.1:c.1781G>T, XM_047436621.1:c.1304G>T, XM_047436625.1:c.1028G>T, XM_047436622.1:c.1112G>T, XM_047436629.1:c.791G>T, XM_047436624.1:c.1064G>T, XM_047436628.1:c.836G>T, XM_047436617.1:c.2477G>T, NP_005984.3:p.Cys826Phe, XP_005256456.1:p.Cys398Phe, XP_005256453.1:p.Cys809Phe, XP_006722354.1:p.Cys394Phe, XP_005256461.1:p.Cys264Phe, XP_011521897.1:p.Cys391Phe, XP_011521902.1:p.Cys264Phe, XP_006722353.1:p.Cys799Phe, XP_011521891.1:p.Cys711Phe, XP_011521893.2:p.Cys684Phe, XP_011521895.1:p.Cys575Phe, XP_011521896.2:p.Cys462Phe, XP_011521899.1:p.Cys313Phe, XP_016880479.1:p.Cys264Phe, XP_011521901.1:p.Cys310Phe, XP_024306668.1:p.Cys264Phe, XP_011521900.1:p.Cys312Phe, XP_016880478.1:p.Cys280Phe, XP_047292571.1:p.Cys782Phe, XP_047292572.1:p.Cys763Phe, XP_011521892.1:p.Cys707Phe, XP_047292575.1:p.Cys690Phe, XP_024306667.1:p.Cys264Phe, XP_016880476.1:p.Cys763Phe, XP_024306670.1:p.Cys264Phe, XP_047292574.1:p.Cys594Phe, XP_047292577.1:p.Cys435Phe, XP_047292581.1:p.Cys343Phe, XP_047292578.1:p.Cys371Phe, XP_047292585.1:p.Cys264Phe, XP_047292580.1:p.Cys355Phe, XP_047292584.1:p.Cys279Phe, XP_047292573.1:p.Cys826Phe

                          13.

                          rs1483806231 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            17:82889668 (GRCh38)
                            17:80847544 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:82889667:G:C
                            Gene:
                            TBCD (Varview)
                            Functional Consequence:
                            coding_sequence_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            C=0.000035/1 (TOMMO)
                            HGVS:
                            NC_000017.11:g.82889668G>C, NC_000017.10:g.80847544G>C, NG_011721.1:g.142605G>C, NM_005993.5:c.1534G>C, NM_005993.4:c.1534G>C, XM_005256399.6:c.250G>C, XM_005256399.5:c.250G>C, XM_005256399.4:c.250G>C, XM_005256399.3:c.250G>C, XM_005256399.2:c.250G>C, XM_005256399.1:c.250G>C, XM_005256396.5:c.1483G>C, XM_006722291.5:c.238G>C, XM_006722291.4:c.238G>C, XM_006722291.3:c.238G>C, XM_006722291.2:c.238G>C, XM_006722291.1:c.238G>C, XM_005256404.5:c.-153G>C, XM_005256404.4:c.-153G>C, XM_005256404.3:c.-153G>C, XM_005256404.2:c.-153G>C, XM_005256404.1:c.-153G>C, XM_011523595.4:c.229G>C, XM_011523595.3:c.229G>C, XM_011523595.2:c.229G>C, XM_011523595.1:c.229G>C, XM_011523600.4:c.-153G>C, XM_011523600.3:c.-153G>C, XM_011523600.2:c.-153G>C, XM_011523600.1:c.-153G>C, XM_006722290.3:c.1534G>C, XM_011523589.3:c.1189G>C, XM_011523589.2:c.1189G>C, XM_011523589.1:c.1189G>C, XM_011523591.3:c.1108G>C, XM_011523591.2:c.1174G>C, XM_011523591.1:c.1174G>C, XM_011523593.3:c.781G>C, XM_011523593.2:c.781G>C, XM_011523593.1:c.781G>C, XM_011523594.3:c.442G>C, XM_011523594.2:c.262G>C, XM_011523594.1:c.262G>C, XM_017024990.3:c.-153G>C, XM_017024990.2:c.-153G>C, XM_017024990.1:c.-153G>C, XM_024450899.2:c.-153G>C, XM_024450899.1:c.-153G>C, XM_017024988.2:c.1534G>C, XM_017024988.1:c.1534G>C, XM_017024987.2:c.1345G>C, XM_017024987.1:c.1345G>C, XM_011523590.2:c.1534G>C, XM_011523590.1:c.1534G>C, XM_024450902.2:c.-153G>C, XM_024450902.1:c.-153G>C, XM_024450900.2:c.-153G>C, XM_024450900.1:c.-153G>C, XM_047436626.1:c.1483G>C, NM_001411101.1:c.1483G>C, NM_001411102.1:c.1534G>C, XM_047436615.1:c.1483G>C, XM_047436616.1:c.1345G>C, XM_047436619.1:c.1483G>C, XM_047436618.1:c.838G>C, XM_047436621.1:c.442G>C, XM_047436625.1:c.442G>C, XM_047436622.1:c.250G>C, XM_047436629.1:c.-153G>C, XM_047436624.1:c.121G>C, XM_047436628.1:c.250G>C, XM_047436617.1:c.1534G>C, NM_001033052.1:c.1483G>C, XM_047436623.1:c.1534G>C, NP_005984.3:p.Ala512Pro, XP_005256456.1:p.Ala84Pro, XP_005256453.1:p.Ala495Pro, XP_006722354.1:p.Ala80Pro, XP_011521897.1:p.Ala77Pro, XP_006722353.1:p.Ala512Pro, XP_011521891.1:p.Ala397Pro, XP_011521893.2:p.Ala370Pro, XP_011521895.1:p.Ala261Pro, XP_011521896.2:p.Ala148Pro, XP_016880477.1:p.Ala512Pro, XP_016880476.1:p.Ala449Pro, XP_011521892.1:p.Ala512Pro, XP_047292582.1:p.Ala495Pro, XP_047292571.1:p.Ala495Pro, XP_047292572.1:p.Ala449Pro, XP_047292575.1:p.Ala495Pro, XP_047292574.1:p.Ala280Pro, XP_047292577.1:p.Ala148Pro, XP_047292581.1:p.Ala148Pro, XP_047292578.1:p.Ala84Pro, XP_047292580.1:p.Ala41Pro, XP_047292584.1:p.Ala84Pro, XP_047292573.1:p.Ala512Pro, XP_047292579.1:p.Ala512Pro

                            14.

                            rs1483086820 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              17:82766366 (GRCh38)
                              17:80724242 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:82766365:G:C
                              Gene:
                              TBCD (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000017.11:g.82766366G>C, NC_000017.10:g.80724242G>C, NG_011721.1:g.19303G>C, NM_005993.5:c.433G>C, NM_005993.4:c.433G>C, XM_005256396.5:c.382G>C, XM_006722290.3:c.433G>C, XM_017024988.2:c.433G>C, XM_017024988.1:c.433G>C, XM_017024987.2:c.244G>C, XM_017024987.1:c.244G>C, XM_011523590.2:c.433G>C, XM_011523590.1:c.433G>C, XM_047436626.1:c.382G>C, NM_001411101.1:c.382G>C, NM_001411102.1:c.433G>C, XM_047436615.1:c.382G>C, XM_047436616.1:c.244G>C, XM_047436619.1:c.382G>C, XM_047436617.1:c.433G>C, NM_001033052.1:c.382G>C, XM_047436623.1:c.433G>C, NP_005984.3:p.Glu145Gln, XP_005256453.1:p.Glu128Gln, XP_006722353.1:p.Glu145Gln, XP_016880477.1:p.Glu145Gln, XP_016880476.1:p.Glu82Gln, XP_011521892.1:p.Glu145Gln, XP_047292582.1:p.Glu128Gln, XP_047292571.1:p.Glu128Gln, XP_047292572.1:p.Glu82Gln, XP_047292575.1:p.Glu128Gln, XP_047292573.1:p.Glu145Gln, XP_047292579.1:p.Glu145Gln

                              15.

                              rs1482289223 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                17:82752218 (GRCh38)
                                17:80710094 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:82752217:G:A,NC_000017.11:82752217:G:C
                                Gene:
                                TBCD (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000017.11:g.82752218G>A, NC_000017.11:g.82752218G>C, NC_000017.10:g.80710094G>A, NC_000017.10:g.80710094G>C, NG_011721.1:g.5155G>A, NG_011721.1:g.5155G>C, NM_005993.5:c.25G>A, NM_005993.5:c.25G>C, NM_005993.4:c.25G>A, NM_005993.4:c.25G>C, XM_005256396.5:c.25G>A, XM_005256396.5:c.25G>C, XM_006722290.3:c.25G>A, XM_006722290.3:c.25G>C, XM_017024988.2:c.25G>A, XM_017024988.2:c.25G>C, XM_017024988.1:c.25G>A, XM_017024988.1:c.25G>C, XM_011523590.2:c.25G>A, XM_011523590.2:c.25G>C, XM_011523590.1:c.25G>A, XM_011523590.1:c.25G>C, XM_047436626.1:c.25G>A, XM_047436626.1:c.25G>C, NM_001411101.1:c.25G>A, NM_001411101.1:c.25G>C, NM_001411102.1:c.25G>A, NM_001411102.1:c.25G>C, XM_047436615.1:c.25G>A, XM_047436615.1:c.25G>C, XM_047436619.1:c.25G>A, XM_047436619.1:c.25G>C, XM_047436617.1:c.25G>A, XM_047436617.1:c.25G>C, NM_001033052.1:c.25G>A, NM_001033052.1:c.25G>C, XM_047436623.1:c.25G>A, XM_047436623.1:c.25G>C, NP_005984.3:p.Ala9Thr, NP_005984.3:p.Ala9Pro, XP_005256453.1:p.Ala9Thr, XP_005256453.1:p.Ala9Pro, XP_006722353.1:p.Ala9Thr, XP_006722353.1:p.Ala9Pro, XP_016880477.1:p.Ala9Thr, XP_016880477.1:p.Ala9Pro, XP_011521892.1:p.Ala9Thr, XP_011521892.1:p.Ala9Pro, XP_047292582.1:p.Ala9Thr, XP_047292582.1:p.Ala9Pro, XP_047292571.1:p.Ala9Thr, XP_047292571.1:p.Ala9Pro, XP_047292575.1:p.Ala9Thr, XP_047292575.1:p.Ala9Pro, XP_047292573.1:p.Ala9Thr, XP_047292573.1:p.Ala9Pro, XP_047292579.1:p.Ala9Thr, XP_047292579.1:p.Ala9Pro

                                16.

                                rs1481816792 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  17:82884145 (GRCh38)
                                  17:80842021 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:82884144:T:A
                                  Gene:
                                  TBCD (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,stop_gained,5_prime_UTR_variant,synonymous_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000017.11:g.82884145T>A, NC_000017.10:g.80842021T>A, NG_011721.1:g.137082T>A, NM_005993.5:c.1476T>A, NM_005993.4:c.1476T>A, XM_005256399.6:c.192T>A, XM_005256399.5:c.192T>A, XM_005256399.4:c.192T>A, XM_005256399.3:c.192T>A, XM_005256399.2:c.192T>A, XM_005256399.1:c.192T>A, XM_005256396.5:c.1425T>A, XM_006722291.5:c.180T>A, XM_006722291.4:c.180T>A, XM_006722291.3:c.180T>A, XM_006722291.2:c.180T>A, XM_006722291.1:c.180T>A, XM_005256404.5:c.-211T>A, XM_005256404.4:c.-211T>A, XM_005256404.3:c.-211T>A, XM_005256404.2:c.-211T>A, XM_005256404.1:c.-211T>A, XM_011523595.4:c.171T>A, XM_011523595.3:c.171T>A, XM_011523595.2:c.171T>A, XM_011523595.1:c.171T>A, XM_006722290.3:c.1476T>A, XM_011523589.3:c.1131T>A, XM_011523589.2:c.1131T>A, XM_011523589.1:c.1131T>A, XM_011523591.3:c.1050T>A, XM_011523591.2:c.1116T>A, XM_011523591.1:c.1116T>A, XM_011523593.3:c.723T>A, XM_011523593.2:c.723T>A, XM_011523593.1:c.723T>A, XM_011523594.3:c.384T>A, XM_011523594.2:c.204T>A, XM_011523594.1:c.204T>A, XM_017024990.3:c.-211T>A, XM_017024990.2:c.-211T>A, XM_017024990.1:c.-211T>A, XM_024450899.2:c.-211T>A, XM_024450899.1:c.-211T>A, XM_017024988.2:c.1476T>A, XM_017024988.1:c.1476T>A, XM_017024987.2:c.1287T>A, XM_017024987.1:c.1287T>A, XM_011523590.2:c.1476T>A, XM_011523590.1:c.1476T>A, XM_024450902.2:c.-211T>A, XM_024450902.1:c.-211T>A, XM_024450900.2:c.-211T>A, XM_024450900.1:c.-211T>A, XM_047436626.1:c.1425T>A, NM_001411101.1:c.1425T>A, NM_001411102.1:c.1476T>A, XM_047436615.1:c.1425T>A, XM_047436616.1:c.1287T>A, XM_047436619.1:c.1425T>A, XM_047436618.1:c.780T>A, XM_047436621.1:c.384T>A, XM_047436625.1:c.384T>A, XM_047436622.1:c.192T>A, XM_047436629.1:c.-211T>A, XM_047436624.1:c.63T>A, XM_047436628.1:c.192T>A, XM_047436617.1:c.1476T>A, NM_001033052.1:c.1425T>A, XM_047436623.1:c.1476T>A, NP_005984.3:p.Ser492Arg, XP_005256456.1:p.Ser64Arg, XP_005256453.1:p.Ser475Arg, XP_006722354.1:p.Ser60Arg, XP_006722353.1:p.Ser492Arg, XP_011521891.1:p.Ser377Arg, XP_011521893.2:p.Ser350Arg, XP_011521895.1:p.Ser241Arg, XP_011521896.2:p.Ser128Arg, XP_016880477.1:p.Ser492Arg, XP_016880476.1:p.Ser429Arg, XP_011521892.1:p.Ser492Arg, XP_047292582.1:p.Ser475Arg, XP_047292571.1:p.Ser475Arg, XP_047292572.1:p.Ser429Arg, XP_047292575.1:p.Ser475Arg, XP_047292574.1:p.Ser260Arg, XP_047292577.1:p.Ser128Arg, XP_047292581.1:p.Ser128Arg, XP_047292578.1:p.Ser64Arg, XP_047292580.1:p.Cys21Ter, XP_047292584.1:p.Ser64Arg, XP_047292573.1:p.Ser492Arg, XP_047292579.1:p.Ser492Arg

                                  17.

                                  rs1481053701 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    17:82929160 (GRCh38)
                                    17:80887036 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:82929159:T:C
                                    Gene:
                                    TBCD (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0.00005/1 (ALFA)
                                    HGVS:
                                    NC_000017.11:g.82929160T>C, NC_000017.10:g.80887036T>C, NG_011721.1:g.182097T>C, NM_005993.5:c.2741T>C, NM_005993.4:c.2741T>C, NT_187612.1:g.172481A>G, XM_005256399.6:c.1457T>C, XM_005256399.5:c.1457T>C, XM_005256399.4:c.1457T>C, XM_005256399.3:c.1457T>C, XM_005256399.2:c.1457T>C, XM_005256399.1:c.1457T>C, XM_005256396.5:c.2690T>C, XM_006722291.5:c.1445T>C, XM_006722291.4:c.1445T>C, XM_006722291.3:c.1445T>C, XM_006722291.2:c.1445T>C, XM_006722291.1:c.1445T>C, XM_005256404.5:c.1055T>C, XM_005256404.4:c.1055T>C, XM_005256404.3:c.1055T>C, XM_005256404.2:c.1055T>C, XM_005256404.1:c.1055T>C, XM_011523595.4:c.1436T>C, XM_011523595.3:c.1436T>C, XM_011523595.2:c.1436T>C, XM_011523595.1:c.1436T>C, XM_011523600.4:c.1055T>C, XM_011523600.3:c.1055T>C, XM_011523600.2:c.1055T>C, XM_011523600.1:c.1055T>C, XM_006722290.3:c.2660T>C, XM_011523589.3:c.2396T>C, XM_011523589.2:c.2396T>C, XM_011523589.1:c.2396T>C, XM_011523591.3:c.2315T>C, XM_011523591.2:c.2381T>C, XM_011523591.1:c.2381T>C, XM_011523593.3:c.1988T>C, XM_011523593.2:c.1988T>C, XM_011523593.1:c.1988T>C, XM_011523594.3:c.1649T>C, XM_011523594.2:c.1469T>C, XM_011523594.1:c.1469T>C, XM_011523597.3:c.1202T>C, XM_011523597.2:c.1202T>C, XM_011523597.1:c.1202T>C, XM_017024990.3:c.1055T>C, XM_017024990.2:c.1055T>C, XM_017024990.1:c.1055T>C, XM_011523599.3:c.1193T>C, XM_011523599.2:c.1193T>C, XM_011523599.1:c.1193T>C, XM_024450900.2:c.1055T>C, XM_024450900.1:c.1055T>C, XM_011523598.2:c.1199T>C, XM_011523598.1:c.1199T>C, XM_017024989.2:c.1103T>C, XM_017024989.1:c.1103T>C, NM_001411101.1:c.2690T>C, NM_001411102.1:c.2660T>C, XM_047436615.1:c.2609T>C, XM_047436616.1:c.2552T>C, XM_011523590.2:c.2384T>C, XM_011523590.1:c.2384T>C, XM_047436619.1:c.2333T>C, XM_024450899.2:c.1055T>C, XM_024450899.1:c.1055T>C, XM_017024987.2:c.2552T>C, XM_017024987.1:c.2552T>C, XM_024450902.2:c.1055T>C, XM_024450902.1:c.1055T>C, XM_047436618.1:c.2045T>C, XM_047436621.1:c.1568T>C, XM_047436625.1:c.1292T>C, XM_047436622.1:c.1376T>C, XM_047436629.1:c.1055T>C, XM_047436624.1:c.1328T>C, XM_047436628.1:c.1100T>C, XM_047436617.1:c.2741T>C, NP_005984.3:p.Ile914Thr, XP_005256456.1:p.Ile486Thr, XP_005256453.1:p.Ile897Thr, XP_006722354.1:p.Ile482Thr, XP_005256461.1:p.Ile352Thr, XP_011521897.1:p.Ile479Thr, XP_011521902.1:p.Ile352Thr, XP_006722353.1:p.Ile887Thr, XP_011521891.1:p.Ile799Thr, XP_011521893.2:p.Ile772Thr, XP_011521895.1:p.Ile663Thr, XP_011521896.2:p.Ile550Thr, XP_011521899.1:p.Ile401Thr, XP_016880479.1:p.Ile352Thr, XP_011521901.1:p.Ile398Thr, XP_024306668.1:p.Ile352Thr, XP_011521900.1:p.Ile400Thr, XP_016880478.1:p.Ile368Thr, XP_047292571.1:p.Ile870Thr, XP_047292572.1:p.Ile851Thr, XP_011521892.1:p.Ile795Thr, XP_047292575.1:p.Ile778Thr, XP_024306667.1:p.Ile352Thr, XP_016880476.1:p.Ile851Thr, XP_024306670.1:p.Ile352Thr, XP_047292574.1:p.Ile682Thr, XP_047292577.1:p.Ile523Thr, XP_047292581.1:p.Ile431Thr, XP_047292578.1:p.Ile459Thr, XP_047292585.1:p.Ile352Thr, XP_047292580.1:p.Ile443Thr, XP_047292584.1:p.Ile367Thr, XP_047292573.1:p.Ile914Thr

                                    18.

                                    rs1479833881 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      17:82814888 (GRCh38)
                                      17:80772764 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:82814887:A:G
                                      Gene:
                                      TBCD (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
                                      Clinical significance:
                                      likely-benign
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000084/1 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000017.11:g.82814888A>G, NC_000017.10:g.80772764A>G, NG_011721.1:g.67825A>G, NM_005993.5:c.1272A>G, NM_005993.4:c.1272A>G, XM_005256396.5:c.1221A>G, XM_006722290.3:c.1272A>G, XM_011523589.3:c.927A>G, XM_011523589.2:c.927A>G, XM_011523589.1:c.927A>G, XM_011523591.3:c.846A>G, XM_011523591.2:c.912A>G, XM_011523591.1:c.912A>G, XM_011523593.3:c.519A>G, XM_011523593.2:c.519A>G, XM_011523593.1:c.519A>G, XM_017024988.2:c.1272A>G, XM_017024988.1:c.1272A>G, XM_017024987.2:c.1083A>G, XM_017024987.1:c.1083A>G, XM_011523590.2:c.1272A>G, XM_011523590.1:c.1272A>G, XM_047436626.1:c.1221A>G, NM_001411101.1:c.1221A>G, NM_001411102.1:c.1272A>G, XM_047436615.1:c.1221A>G, XM_047436616.1:c.1083A>G, XM_047436619.1:c.1221A>G, XM_047436618.1:c.576A>G, XM_047436624.1:c.16A>G, XM_047436617.1:c.1272A>G, NM_001033052.1:c.1221A>G, XM_047436623.1:c.1272A>G, XP_047292580.1:p.Arg6Gly

                                      19.

                                      rs1479649195 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        17:82920558 (GRCh38)
                                        17:80878434 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:82920557:T:G
                                        Gene:
                                        TBCD (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000013/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000017.11:g.82920558T>G, NC_000017.10:g.80878434T>G, NG_011721.1:g.173495T>G, NM_005993.5:c.2041T>G, NM_005993.4:c.2041T>G, XM_005256399.6:c.757T>G, XM_005256399.5:c.757T>G, XM_005256399.4:c.757T>G, XM_005256399.3:c.757T>G, XM_005256399.2:c.757T>G, XM_005256399.1:c.757T>G, XM_005256396.5:c.1990T>G, XM_006722291.5:c.745T>G, XM_006722291.4:c.745T>G, XM_006722291.3:c.745T>G, XM_006722291.2:c.745T>G, XM_006722291.1:c.745T>G, XM_005256404.5:c.355T>G, XM_005256404.4:c.355T>G, XM_005256404.3:c.355T>G, XM_005256404.2:c.355T>G, XM_005256404.1:c.355T>G, XM_011523595.4:c.736T>G, XM_011523595.3:c.736T>G, XM_011523595.2:c.736T>G, XM_011523595.1:c.736T>G, XM_011523600.4:c.355T>G, XM_011523600.3:c.355T>G, XM_011523600.2:c.355T>G, XM_011523600.1:c.355T>G, XM_006722290.3:c.1960T>G, XM_011523589.3:c.1696T>G, XM_011523589.2:c.1696T>G, XM_011523589.1:c.1696T>G, XM_011523591.3:c.1615T>G, XM_011523591.2:c.1681T>G, XM_011523591.1:c.1681T>G, XM_011523593.3:c.1288T>G, XM_011523593.2:c.1288T>G, XM_011523593.1:c.1288T>G, XM_011523594.3:c.949T>G, XM_011523594.2:c.769T>G, XM_011523594.1:c.769T>G, XM_011523597.3:c.502T>G, XM_011523597.2:c.502T>G, XM_011523597.1:c.502T>G, XM_017024990.3:c.355T>G, XM_017024990.2:c.355T>G, XM_017024990.1:c.355T>G, XM_011523599.3:c.493T>G, XM_011523599.2:c.493T>G, XM_011523599.1:c.493T>G, XM_024450899.2:c.355T>G, XM_024450899.1:c.355T>G, XM_017024987.2:c.1852T>G, XM_017024987.1:c.1852T>G, XM_011523590.2:c.1684T>G, XM_011523590.1:c.1684T>G, XM_024450902.2:c.355T>G, XM_024450902.1:c.355T>G, XM_024450900.2:c.355T>G, XM_024450900.1:c.355T>G, XM_011523598.2:c.499T>G, XM_011523598.1:c.499T>G, XM_017024989.2:c.403T>G, XM_017024989.1:c.403T>G, NM_001411101.1:c.1990T>G, NM_001411102.1:c.1960T>G, XM_047436615.1:c.1909T>G, XM_047436616.1:c.1852T>G, XM_047436619.1:c.1633T>G, XM_047436618.1:c.1345T>G, XM_047436621.1:c.868T>G, XM_047436625.1:c.592T>G, XM_047436622.1:c.676T>G, XM_047436629.1:c.355T>G, XM_047436624.1:c.628T>G, XM_047436628.1:c.400T>G, XM_047436617.1:c.2041T>G, NM_001033052.1:c.1990T>G, XM_047436623.1:c.2041T>G, NP_005984.3:p.Cys681Gly, XP_005256456.1:p.Cys253Gly, XP_005256453.1:p.Cys664Gly, XP_006722354.1:p.Cys249Gly, XP_005256461.1:p.Cys119Gly, XP_011521897.1:p.Cys246Gly, XP_011521902.1:p.Cys119Gly, XP_006722353.1:p.Cys654Gly, XP_011521891.1:p.Cys566Gly, XP_011521893.2:p.Cys539Gly, XP_011521895.1:p.Cys430Gly, XP_011521896.2:p.Cys317Gly, XP_011521899.1:p.Cys168Gly, XP_016880479.1:p.Cys119Gly, XP_011521901.1:p.Cys165Gly, XP_024306667.1:p.Cys119Gly, XP_016880476.1:p.Cys618Gly, XP_011521892.1:p.Cys562Gly, XP_024306670.1:p.Cys119Gly, XP_024306668.1:p.Cys119Gly, XP_011521900.1:p.Cys167Gly, XP_016880478.1:p.Cys135Gly, XP_047292571.1:p.Cys637Gly, XP_047292572.1:p.Cys618Gly, XP_047292575.1:p.Cys545Gly, XP_047292574.1:p.Cys449Gly, XP_047292577.1:p.Cys290Gly, XP_047292581.1:p.Cys198Gly, XP_047292578.1:p.Cys226Gly, XP_047292585.1:p.Cys119Gly, XP_047292580.1:p.Cys210Gly, XP_047292584.1:p.Cys134Gly, XP_047292573.1:p.Cys681Gly, XP_047292579.1:p.Cys681Gly

                                        20.

                                        rs1478773892 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          17:82930633 (GRCh38)
                                          17:80888509 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:82930632:C:T
                                          Gene:
                                          TBCD (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:
                                          NC_000017.11:g.82930633C>T, NC_000017.10:g.80888509C>T, NG_011721.1:g.183570C>T, NM_005993.5:c.3103C>T, NM_005993.4:c.3103C>T, NT_187612.1:g.171008G>A, XM_005256399.6:c.1819C>T, XM_005256399.5:c.1819C>T, XM_005256399.4:c.1819C>T, XM_005256399.3:c.1819C>T, XM_005256399.2:c.1819C>T, XM_005256399.1:c.1819C>T, XM_005256396.5:c.3052C>T, XM_006722291.5:c.1807C>T, XM_006722291.4:c.1807C>T, XM_006722291.3:c.1807C>T, XM_006722291.2:c.1807C>T, XM_006722291.1:c.1807C>T, XM_005256404.5:c.1417C>T, XM_005256404.4:c.1417C>T, XM_005256404.3:c.1417C>T, XM_005256404.2:c.1417C>T, XM_005256404.1:c.1417C>T, XM_011523595.4:c.1798C>T, XM_011523595.3:c.1798C>T, XM_011523595.2:c.1798C>T, XM_011523595.1:c.1798C>T, XM_011523600.4:c.1417C>T, XM_011523600.3:c.1417C>T, XM_011523600.2:c.1417C>T, XM_011523600.1:c.1417C>T, XM_006722290.3:c.3022C>T, XM_011523589.3:c.2758C>T, XM_011523589.2:c.2758C>T, XM_011523589.1:c.2758C>T, XM_011523591.3:c.2677C>T, XM_011523591.2:c.2743C>T, XM_011523591.1:c.2743C>T, XM_011523593.3:c.2350C>T, XM_011523593.2:c.2350C>T, XM_011523593.1:c.2350C>T, XM_011523594.3:c.2011C>T, XM_011523594.2:c.1831C>T, XM_011523594.1:c.1831C>T, XM_011523597.3:c.1564C>T, XM_011523597.2:c.1564C>T, XM_011523597.1:c.1564C>T, XM_017024990.3:c.1417C>T, XM_017024990.2:c.1417C>T, XM_017024990.1:c.1417C>T, XM_011523599.3:c.1555C>T, XM_011523599.2:c.1555C>T, XM_011523599.1:c.1555C>T, XM_024450900.2:c.1417C>T, XM_024450900.1:c.1417C>T, XM_011523598.2:c.1561C>T, XM_011523598.1:c.1561C>T, XM_017024989.2:c.1465C>T, XM_017024989.1:c.1465C>T, NM_001411101.1:c.3052C>T, NM_001411102.1:c.3022C>T, XM_047436615.1:c.2971C>T, XM_047436616.1:c.2914C>T, XM_011523590.2:c.2746C>T, XM_011523590.1:c.2746C>T, XM_047436619.1:c.2695C>T, XM_024450899.2:c.1417C>T, XM_024450899.1:c.1417C>T, XM_017024987.2:c.2914C>T, XM_017024987.1:c.2914C>T, XM_024450902.2:c.1417C>T, XM_024450902.1:c.1417C>T, XM_047436618.1:c.2407C>T, XM_047436621.1:c.1930C>T, XM_047436625.1:c.1654C>T, XM_047436622.1:c.1738C>T, XM_047436629.1:c.1417C>T, XM_047436624.1:c.1690C>T, XM_047436628.1:c.1462C>T, XM_047436617.1:c.3103C>T

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...