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Items: 1 to 20 of 1741

1.

rs1490256267 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    2:159178984 (GRCh38)
    2:160035495 (GRCh37)
    Canonical SPDI:
    NC_000002.12:159178983:T:A
    Gene:
    TANC1 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000002.12:g.159178984T>A, NC_000002.11:g.160035495T>A, XM_006712810.4:c.2331T>A, XM_006712810.3:c.2331T>A, XM_006712810.2:c.2331T>A, XM_006712810.1:c.2331T>A, XM_006712814.4:c.1779T>A, XM_006712814.3:c.1779T>A, XM_006712814.2:c.1779T>A, XM_006712814.1:c.1779T>A, XM_017005143.3:c.2397T>A, XM_017005143.2:c.2397T>A, XM_017005143.1:c.2397T>A, NM_033394.3:c.2331T>A, NM_033394.2:c.2331T>A, XM_011512053.3:c.2385T>A, XM_011512053.2:c.2385T>A, XM_011512053.1:c.2385T>A, XM_011512059.3:c.1839T>A, XM_011512059.2:c.1839T>A, XM_011512059.1:c.1839T>A, NM_001350065.2:c.2310T>A, NM_001350065.1:c.2310T>A, XM_017005141.2:c.2412T>A, XM_017005141.1:c.2382T>A, NM_001145909.2:c.2307T>A, NM_001145909.1:c.2307T>A, NM_001350064.2:c.2310T>A, NM_001350064.1:c.2310T>A, XM_017005152.2:c.2148T>A, XM_017005152.1:c.2118T>A, NM_001350063.2:c.1962T>A, NM_001350063.1:c.1962T>A, NM_001350062.2:c.1728T>A, NM_001350062.1:c.1728T>A, XM_047446132.1:c.2013T>A, XM_047446110.1:c.2385T>A, XM_047446107.1:c.2415T>A, XM_047446108.1:c.2394T>A, XM_047446109.1:c.2391T>A, XM_047446111.1:c.2361T>A, XM_047446112.1:c.2358T>A, XM_047446114.1:c.2340T>A, XM_047446115.1:c.2337T>A, XM_047446118.1:c.2310T>A, XM_047446120.1:c.2289T>A, XM_047446121.1:c.2256T>A, XM_047446116.1:c.2328T>A, XM_047446125.1:c.2151T>A, XM_047446117.1:c.2310T>A, XM_047446119.1:c.2307T>A, XM_047446126.1:c.2130T>A, XM_047446127.1:c.2097T>A, XM_047446128.1:c.2076T>A, XM_047446122.1:c.2226T>A, XM_047446130.1:c.2046T>A, XM_047446124.1:c.2208T>A, XM_047446129.1:c.2067T>A, XM_047446131.1:c.2013T>A, XM_047446134.1:c.1992T>A, XM_047446135.1:c.1839T>A, XM_047446136.1:c.2103T>A

    2.

    rs1489315552 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      T>- [Show Flanks]
      Chromosome:
      2:159097828 (GRCh38)
      2:159954340 (GRCh37)
      Canonical SPDI:
      NC_000002.12:159097827:T:
      Gene:
      TANC1 (Varview)
      Functional Consequence:
      frameshift_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      -=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.159097828del, NC_000002.11:g.159954340del, XM_006712810.4:c.253del, XM_006712810.3:c.253del, XM_006712810.2:c.253del, XM_006712810.1:c.253del, XM_006712814.4:c.283del, XM_006712814.3:c.283del, XM_006712814.2:c.283del, XM_006712814.1:c.283del, XM_017005143.3:c.319del, XM_017005143.2:c.319del, XM_017005143.1:c.319del, NM_033394.3:c.253del, NM_033394.2:c.253del, XM_011512053.3:c.307del, XM_011512053.2:c.307del, XM_011512053.1:c.307del, NM_001350065.2:c.253del, NM_001350065.1:c.253del, XM_017005141.2:c.337del, XM_017005141.1:c.307del, NM_001145909.2:c.253del, NM_001145909.1:c.253del, NM_001350064.2:c.253del, NM_001350064.1:c.253del, XM_017005152.2:c.337del, XM_017005152.1:c.307del, NM_001350063.2:c.253del, NM_001350063.1:c.253del, NM_001350062.2:c.253del, NM_001350062.1:c.253del, XM_047446110.1:c.307del, XM_047446107.1:c.337del, XM_047446108.1:c.337del, XM_047446109.1:c.337del, XM_047446111.1:c.283del, XM_047446112.1:c.283del, XM_047446114.1:c.283del, XM_047446115.1:c.283del, XM_047446118.1:c.337del, XM_047446120.1:c.337del, XM_047446121.1:c.283del, XM_047446116.1:c.253del, XM_047446125.1:c.337del, XM_047446117.1:c.253del, XM_047446119.1:c.253del, XM_047446126.1:c.337del, XM_047446127.1:c.283del, XM_047446128.1:c.283del, XM_047446122.1:c.253del, XM_047446130.1:c.337del, XM_047446124.1:c.253del, XM_047446129.1:c.253del, XM_047446131.1:c.253del, XM_047446134.1:c.253del, XM_047446136.1:c.253del, XP_006712873.1:p.Ser85fs, XP_006712877.1:p.Ser95fs, XP_016860632.1:p.Ser107fs, NP_203752.2:p.Ser85fs, XP_011510355.1:p.Ser103fs, NP_001336994.1:p.Ser85fs, XP_016860630.2:p.Ser113fs, NP_001139381.1:p.Ser85fs, NP_001336993.1:p.Ser85fs, XP_016860641.2:p.Ser113fs, NP_001336992.1:p.Ser85fs, NP_001336991.1:p.Ser85fs, XP_047302066.1:p.Ser103fs, XP_047302063.1:p.Ser113fs, XP_047302064.1:p.Ser113fs, XP_047302065.1:p.Ser113fs, XP_047302067.1:p.Ser95fs, XP_047302068.1:p.Ser95fs, XP_047302070.1:p.Ser95fs, XP_047302071.1:p.Ser95fs, XP_047302074.1:p.Ser113fs, XP_047302076.1:p.Ser113fs, XP_047302077.1:p.Ser95fs, XP_047302072.1:p.Ser85fs, XP_047302081.1:p.Ser113fs, XP_047302073.1:p.Ser85fs, XP_047302075.1:p.Ser85fs, XP_047302082.1:p.Ser113fs, XP_047302083.1:p.Ser95fs, XP_047302084.1:p.Ser95fs, XP_047302078.1:p.Ser85fs, XP_047302086.1:p.Ser113fs, XP_047302080.1:p.Ser85fs, XP_047302085.1:p.Ser85fs, XP_047302087.1:p.Ser85fs, XP_047302090.1:p.Ser85fs, XP_047302092.1:p.Ser85fs

      3.

      rs1489087585 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        2:159178614 (GRCh38)
        2:160035125 (GRCh37)
        Canonical SPDI:
        NC_000002.12:159178613:A:G
        Gene:
        TANC1 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by cluster
        MAF:
        G=0./0 (KOREAN)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000546/1 (Korea1K)
        HGVS:
        NC_000002.12:g.159178614A>G, NC_000002.11:g.160035125A>G, XM_006712810.4:c.1961A>G, XM_006712810.3:c.1961A>G, XM_006712810.2:c.1961A>G, XM_006712810.1:c.1961A>G, XM_006712814.4:c.1409A>G, XM_006712814.3:c.1409A>G, XM_006712814.2:c.1409A>G, XM_006712814.1:c.1409A>G, XM_017005143.3:c.2027A>G, XM_017005143.2:c.2027A>G, XM_017005143.1:c.2027A>G, NM_033394.3:c.1961A>G, NM_033394.2:c.1961A>G, XM_011512053.3:c.2015A>G, XM_011512053.2:c.2015A>G, XM_011512053.1:c.2015A>G, XM_011512059.3:c.1469A>G, XM_011512059.2:c.1469A>G, XM_011512059.1:c.1469A>G, NM_001350065.2:c.1940A>G, NM_001350065.1:c.1940A>G, XM_017005141.2:c.2042A>G, XM_017005141.1:c.2012A>G, NM_001145909.2:c.1937A>G, NM_001145909.1:c.1937A>G, NM_001350064.2:c.1940A>G, NM_001350064.1:c.1940A>G, XM_017005152.2:c.1778A>G, XM_017005152.1:c.1748A>G, NM_001350063.2:c.1592A>G, NM_001350063.1:c.1592A>G, NM_001350062.2:c.1358A>G, NM_001350062.1:c.1358A>G, XM_047446132.1:c.1643A>G, XM_047446110.1:c.2015A>G, XM_047446107.1:c.2045A>G, XM_047446108.1:c.2024A>G, XM_047446109.1:c.2021A>G, XM_047446111.1:c.1991A>G, XM_047446112.1:c.1988A>G, XM_047446114.1:c.1970A>G, XM_047446115.1:c.1967A>G, XM_047446118.1:c.1940A>G, XM_047446120.1:c.1919A>G, XM_047446121.1:c.1886A>G, XM_047446116.1:c.1958A>G, XM_047446125.1:c.1781A>G, XM_047446117.1:c.1940A>G, XM_047446119.1:c.1937A>G, XM_047446126.1:c.1760A>G, XM_047446127.1:c.1727A>G, XM_047446128.1:c.1706A>G, XM_047446122.1:c.1856A>G, XM_047446130.1:c.1676A>G, XM_047446124.1:c.1838A>G, XM_047446129.1:c.1697A>G, XM_047446131.1:c.1643A>G, XM_047446134.1:c.1622A>G, XM_047446135.1:c.1469A>G, XM_047446136.1:c.1733A>G, XP_006712873.1:p.Lys654Arg, XP_006712877.1:p.Lys470Arg, XP_016860632.1:p.Lys676Arg, NP_203752.2:p.Lys654Arg, XP_011510355.1:p.Lys672Arg, XP_011510361.1:p.Lys490Arg, NP_001336994.1:p.Lys647Arg, XP_016860630.2:p.Lys681Arg, NP_001139381.1:p.Lys646Arg, NP_001336993.1:p.Lys647Arg, XP_016860641.2:p.Lys593Arg, NP_001336992.1:p.Lys531Arg, NP_001336991.1:p.Lys453Arg, XP_047302088.1:p.Lys548Arg, XP_047302066.1:p.Lys672Arg, XP_047302063.1:p.Lys682Arg, XP_047302064.1:p.Lys675Arg, XP_047302065.1:p.Lys674Arg, XP_047302067.1:p.Lys664Arg, XP_047302068.1:p.Lys663Arg, XP_047302070.1:p.Lys657Arg, XP_047302071.1:p.Lys656Arg, XP_047302074.1:p.Lys647Arg, XP_047302076.1:p.Lys640Arg, XP_047302077.1:p.Lys629Arg, XP_047302072.1:p.Lys653Arg, XP_047302081.1:p.Lys594Arg, XP_047302073.1:p.Lys647Arg, XP_047302075.1:p.Lys646Arg, XP_047302082.1:p.Lys587Arg, XP_047302083.1:p.Lys576Arg, XP_047302084.1:p.Lys569Arg, XP_047302078.1:p.Lys619Arg, XP_047302086.1:p.Lys559Arg, XP_047302080.1:p.Lys613Arg, XP_047302085.1:p.Lys566Arg, XP_047302087.1:p.Lys548Arg, XP_047302090.1:p.Lys541Arg, XP_047302091.1:p.Lys490Arg, XP_047302092.1:p.Lys578Arg

        4.

        rs1489034425 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          2:159185861 (GRCh38)
          2:160042372 (GRCh37)
          Canonical SPDI:
          NC_000002.12:159185860:G:A
          Gene:
          TANC1 (Varview), MIR6888 (Varview)
          Functional Consequence:
          coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000004/1 (TOPMED)
          HGVS:
          NC_000002.12:g.159185861G>A, NC_000002.11:g.160042372G>A, XM_006712810.4:c.2581G>A, XM_006712810.3:c.2581G>A, XM_006712810.2:c.2581G>A, XM_006712810.1:c.2581G>A, XM_006712814.4:c.2029G>A, XM_006712814.3:c.2029G>A, XM_006712814.2:c.2029G>A, XM_006712814.1:c.2029G>A, XM_017005143.3:c.2647G>A, XM_017005143.2:c.2647G>A, XM_017005143.1:c.2647G>A, NM_033394.3:c.2581G>A, NM_033394.2:c.2581G>A, XM_011512053.3:c.2635G>A, XM_011512053.2:c.2635G>A, XM_011512053.1:c.2635G>A, XM_011512059.3:c.2089G>A, XM_011512059.2:c.2089G>A, XM_011512059.1:c.2089G>A, NM_001350065.2:c.2560G>A, NM_001350065.1:c.2560G>A, XM_017005141.2:c.2662G>A, XM_017005141.1:c.2632G>A, NM_001145909.2:c.2557G>A, NM_001145909.1:c.2557G>A, NM_001350064.2:c.2560G>A, NM_001350064.1:c.2560G>A, XM_017005152.2:c.2398G>A, XM_017005152.1:c.2368G>A, NM_001350063.2:c.2212G>A, NM_001350063.1:c.2212G>A, NM_001350062.2:c.1978G>A, NM_001350062.1:c.1978G>A, XM_047446132.1:c.2263G>A, XM_047446110.1:c.2635G>A, XM_047446107.1:c.2665G>A, XM_047446108.1:c.2644G>A, XM_047446109.1:c.2641G>A, XM_047446111.1:c.2611G>A, XM_047446112.1:c.2608G>A, XM_047446114.1:c.2590G>A, XM_047446115.1:c.2587G>A, XM_047446118.1:c.2560G>A, XM_047446120.1:c.2539G>A, XM_047446121.1:c.2506G>A, XM_047446116.1:c.2578G>A, XM_047446125.1:c.2401G>A, XM_047446117.1:c.2560G>A, XM_047446119.1:c.2557G>A, XM_047446126.1:c.2380G>A, XM_047446127.1:c.2347G>A, XM_047446128.1:c.2326G>A, XM_047446122.1:c.2476G>A, XM_047446130.1:c.2296G>A, XM_047446124.1:c.2458G>A, XM_047446129.1:c.2317G>A, XM_047446131.1:c.2263G>A, XM_047446134.1:c.2242G>A, XM_047446135.1:c.2089G>A, XM_047446136.1:c.2353G>A, XP_006712873.1:p.Glu861Lys, XP_006712877.1:p.Glu677Lys, XP_016860632.1:p.Glu883Lys, NP_203752.2:p.Glu861Lys, XP_011510355.1:p.Glu879Lys, XP_011510361.1:p.Glu697Lys, NP_001336994.1:p.Glu854Lys, XP_016860630.2:p.Glu888Lys, NP_001139381.1:p.Glu853Lys, NP_001336993.1:p.Glu854Lys, XP_016860641.2:p.Glu800Lys, NP_001336992.1:p.Glu738Lys, NP_001336991.1:p.Glu660Lys, XP_047302088.1:p.Glu755Lys, XP_047302066.1:p.Glu879Lys, XP_047302063.1:p.Glu889Lys, XP_047302064.1:p.Glu882Lys, XP_047302065.1:p.Glu881Lys, XP_047302067.1:p.Glu871Lys, XP_047302068.1:p.Glu870Lys, XP_047302070.1:p.Glu864Lys, XP_047302071.1:p.Glu863Lys, XP_047302074.1:p.Glu854Lys, XP_047302076.1:p.Glu847Lys, XP_047302077.1:p.Glu836Lys, XP_047302072.1:p.Glu860Lys, XP_047302081.1:p.Glu801Lys, XP_047302073.1:p.Glu854Lys, XP_047302075.1:p.Glu853Lys, XP_047302082.1:p.Glu794Lys, XP_047302083.1:p.Glu783Lys, XP_047302084.1:p.Glu776Lys, XP_047302078.1:p.Glu826Lys, XP_047302086.1:p.Glu766Lys, XP_047302080.1:p.Glu820Lys, XP_047302085.1:p.Glu773Lys, XP_047302087.1:p.Glu755Lys, XP_047302090.1:p.Glu748Lys, XP_047302091.1:p.Glu697Lys, XP_047302092.1:p.Glu785Lys

          5.

          rs1488750839 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            2:159175145 (GRCh38)
            2:160031656 (GRCh37)
            Canonical SPDI:
            NC_000002.12:159175144:A:G
            Gene:
            TANC1 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by cluster
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000002.12:g.159175145A>G, NC_000002.11:g.160031656A>G, XM_006712810.4:c.1696A>G, XM_006712810.3:c.1696A>G, XM_006712810.2:c.1696A>G, XM_006712810.1:c.1696A>G, XM_006712814.4:c.1144A>G, XM_006712814.3:c.1144A>G, XM_006712814.2:c.1144A>G, XM_006712814.1:c.1144A>G, XM_017005143.3:c.1762A>G, XM_017005143.2:c.1762A>G, XM_017005143.1:c.1762A>G, NM_033394.3:c.1696A>G, NM_033394.2:c.1696A>G, XM_011512053.3:c.1750A>G, XM_011512053.2:c.1750A>G, XM_011512053.1:c.1750A>G, XM_011512059.3:c.1204A>G, XM_011512059.2:c.1204A>G, XM_011512059.1:c.1204A>G, NM_001350065.2:c.1675A>G, NM_001350065.1:c.1675A>G, XM_017005141.2:c.1777A>G, XM_017005141.1:c.1747A>G, NM_001145909.2:c.1672A>G, NM_001145909.1:c.1672A>G, NM_001350064.2:c.1675A>G, NM_001350064.1:c.1675A>G, XM_017005152.2:c.1513A>G, XM_017005152.1:c.1483A>G, NM_001350063.2:c.1327A>G, NM_001350063.1:c.1327A>G, NM_001350062.2:c.1093A>G, NM_001350062.1:c.1093A>G, XM_047446132.1:c.1378A>G, XM_047446110.1:c.1750A>G, XM_047446107.1:c.1780A>G, XM_047446108.1:c.1759A>G, XM_047446109.1:c.1756A>G, XM_047446111.1:c.1726A>G, XM_047446112.1:c.1723A>G, XM_047446114.1:c.1705A>G, XM_047446115.1:c.1702A>G, XM_047446118.1:c.1675A>G, XM_047446120.1:c.1654A>G, XM_047446121.1:c.1621A>G, XM_047446116.1:c.1693A>G, XM_047446125.1:c.1516A>G, XM_047446117.1:c.1675A>G, XM_047446119.1:c.1672A>G, XM_047446126.1:c.1495A>G, XM_047446127.1:c.1462A>G, XM_047446128.1:c.1441A>G, XM_047446122.1:c.1591A>G, XM_047446130.1:c.1411A>G, XM_047446124.1:c.1573A>G, XM_047446129.1:c.1432A>G, XM_047446131.1:c.1378A>G, XM_047446134.1:c.1357A>G, XM_047446135.1:c.1204A>G, XM_047446136.1:c.1468A>G, XP_006712873.1:p.Lys566Glu, XP_006712877.1:p.Lys382Glu, XP_016860632.1:p.Lys588Glu, NP_203752.2:p.Lys566Glu, XP_011510355.1:p.Lys584Glu, XP_011510361.1:p.Lys402Glu, NP_001336994.1:p.Lys559Glu, XP_016860630.2:p.Lys593Glu, NP_001139381.1:p.Lys558Glu, NP_001336993.1:p.Lys559Glu, XP_016860641.2:p.Lys505Glu, NP_001336992.1:p.Lys443Glu, NP_001336991.1:p.Lys365Glu, XP_047302088.1:p.Lys460Glu, XP_047302066.1:p.Lys584Glu, XP_047302063.1:p.Lys594Glu, XP_047302064.1:p.Lys587Glu, XP_047302065.1:p.Lys586Glu, XP_047302067.1:p.Lys576Glu, XP_047302068.1:p.Lys575Glu, XP_047302070.1:p.Lys569Glu, XP_047302071.1:p.Lys568Glu, XP_047302074.1:p.Lys559Glu, XP_047302076.1:p.Lys552Glu, XP_047302077.1:p.Lys541Glu, XP_047302072.1:p.Lys565Glu, XP_047302081.1:p.Lys506Glu, XP_047302073.1:p.Lys559Glu, XP_047302075.1:p.Lys558Glu, XP_047302082.1:p.Lys499Glu, XP_047302083.1:p.Lys488Glu, XP_047302084.1:p.Lys481Glu, XP_047302078.1:p.Lys531Glu, XP_047302086.1:p.Lys471Glu, XP_047302080.1:p.Lys525Glu, XP_047302085.1:p.Lys478Glu, XP_047302087.1:p.Lys460Glu, XP_047302090.1:p.Lys453Glu, XP_047302091.1:p.Lys402Glu, XP_047302092.1:p.Lys490Glu

            6.

            rs1487768433 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              2:159219240 (GRCh38)
              2:160075751 (GRCh37)
              Canonical SPDI:
              NC_000002.12:159219239:T:G
              Gene:
              TANC1 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000002.12:g.159219240T>G, NC_000002.11:g.160075751T>G, XM_006712810.4:c.3381T>G, XM_006712810.3:c.3381T>G, XM_006712810.2:c.3381T>G, XM_006712810.1:c.3381T>G, XM_006712814.4:c.2829T>G, XM_006712814.3:c.2829T>G, XM_006712814.2:c.2829T>G, XM_006712814.1:c.2829T>G, XM_017005143.3:c.3447T>G, XM_017005143.2:c.3447T>G, XM_017005143.1:c.3447T>G, NM_033394.3:c.3381T>G, NM_033394.2:c.3381T>G, XM_011512053.3:c.3435T>G, XM_011512053.2:c.3435T>G, XM_011512053.1:c.3435T>G, XM_011512059.3:c.2889T>G, XM_011512059.2:c.2889T>G, XM_011512059.1:c.2889T>G, NM_001350065.2:c.3360T>G, NM_001350065.1:c.3360T>G, XM_017005141.2:c.3462T>G, XM_017005141.1:c.3432T>G, NM_001145909.2:c.3357T>G, NM_001145909.1:c.3357T>G, NM_001350064.2:c.3360T>G, NM_001350064.1:c.3360T>G, XM_017005152.2:c.3198T>G, XM_017005152.1:c.3168T>G, NM_001350063.2:c.3012T>G, NM_001350063.1:c.3012T>G, NM_001350062.2:c.2778T>G, NM_001350062.1:c.2778T>G, XM_047446132.1:c.3063T>G, XM_047446110.1:c.3435T>G, XM_047446107.1:c.3465T>G, XM_047446108.1:c.3444T>G, XM_047446109.1:c.3441T>G, XM_047446111.1:c.3411T>G, XM_047446112.1:c.3408T>G, XM_047446114.1:c.3390T>G, XM_047446115.1:c.3387T>G, XM_047446118.1:c.3360T>G, XM_047446120.1:c.3339T>G, XM_047446121.1:c.3306T>G, XM_047446116.1:c.3378T>G, XM_047446125.1:c.3201T>G, XM_047446117.1:c.3360T>G, XM_047446119.1:c.3357T>G, XM_047446126.1:c.3180T>G, XM_047446127.1:c.3147T>G, XM_047446128.1:c.3126T>G, XM_047446122.1:c.3276T>G, XM_047446130.1:c.3096T>G, XM_047446124.1:c.3258T>G, XM_047446129.1:c.3117T>G, XM_047446131.1:c.3063T>G, XM_047446134.1:c.3042T>G, XM_047446135.1:c.2889T>G, XM_047446136.1:c.3153T>G, XP_006712873.1:p.Ile1127Met, XP_006712877.1:p.Ile943Met, XP_016860632.1:p.Ile1149Met, NP_203752.2:p.Ile1127Met, XP_011510355.1:p.Ile1145Met, XP_011510361.1:p.Ile963Met, NP_001336994.1:p.Ile1120Met, XP_016860630.2:p.Ile1154Met, NP_001139381.1:p.Ile1119Met, NP_001336993.1:p.Ile1120Met, XP_016860641.2:p.Ile1066Met, NP_001336992.1:p.Ile1004Met, NP_001336991.1:p.Ile926Met, XP_047302088.1:p.Ile1021Met, XP_047302066.1:p.Ile1145Met, XP_047302063.1:p.Ile1155Met, XP_047302064.1:p.Ile1148Met, XP_047302065.1:p.Ile1147Met, XP_047302067.1:p.Ile1137Met, XP_047302068.1:p.Ile1136Met, XP_047302070.1:p.Ile1130Met, XP_047302071.1:p.Ile1129Met, XP_047302074.1:p.Ile1120Met, XP_047302076.1:p.Ile1113Met, XP_047302077.1:p.Ile1102Met, XP_047302072.1:p.Ile1126Met, XP_047302081.1:p.Ile1067Met, XP_047302073.1:p.Ile1120Met, XP_047302075.1:p.Ile1119Met, XP_047302082.1:p.Ile1060Met, XP_047302083.1:p.Ile1049Met, XP_047302084.1:p.Ile1042Met, XP_047302078.1:p.Ile1092Met, XP_047302086.1:p.Ile1032Met, XP_047302080.1:p.Ile1086Met, XP_047302085.1:p.Ile1039Met, XP_047302087.1:p.Ile1021Met, XP_047302090.1:p.Ile1014Met, XP_047302091.1:p.Ile963Met, XP_047302092.1:p.Ile1051Met

              7.

              rs1487634727 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                2:159230010 (GRCh38)
                2:160086521 (GRCh37)
                Canonical SPDI:
                NC_000002.12:159230009:C:T
                Gene:
                TANC1 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000002.12:g.159230010C>T, NC_000002.11:g.160086521C>T, XM_006712810.4:c.4584C>T, XM_006712810.3:c.4584C>T, XM_006712810.2:c.4584C>T, XM_006712810.1:c.4584C>T, XM_006712814.4:c.4032C>T, XM_006712814.3:c.4032C>T, XM_006712814.2:c.4032C>T, XM_006712814.1:c.4032C>T, XM_017005143.3:c.4650C>T, XM_017005143.2:c.4650C>T, XM_017005143.1:c.4650C>T, NM_033394.3:c.4584C>T, NM_033394.2:c.4584C>T, XM_011512053.3:c.4638C>T, XM_011512053.2:c.4638C>T, XM_011512053.1:c.4638C>T, XM_011512059.3:c.4092C>T, XM_011512059.2:c.4092C>T, XM_011512059.1:c.4092C>T, NM_001350065.2:c.4563C>T, NM_001350065.1:c.4563C>T, XM_017005141.2:c.4665C>T, XM_017005141.1:c.4635C>T, NM_001145909.2:c.*392C>T, NM_001145909.1:c.*392C>T, NM_001350064.2:c.4563C>T, NM_001350064.1:c.4563C>T, XM_017005152.2:c.4401C>T, XM_017005152.1:c.4371C>T, NM_001350063.2:c.4215C>T, NM_001350063.1:c.4215C>T, NM_001350062.2:c.3981C>T, NM_001350062.1:c.3981C>T, XM_047446132.1:c.4266C>T, XM_047446110.1:c.4638C>T, XM_047446107.1:c.4668C>T, XM_047446108.1:c.4647C>T, XM_047446109.1:c.4644C>T, XM_047446111.1:c.4614C>T, XM_047446112.1:c.4611C>T, XM_047446114.1:c.4593C>T, XM_047446115.1:c.4590C>T, XM_047446118.1:c.4563C>T, XM_047446120.1:c.4542C>T, XM_047446121.1:c.4509C>T, XM_047446116.1:c.4581C>T, XM_047446125.1:c.4404C>T, XM_047446117.1:c.4563C>T, XM_047446119.1:c.4560C>T, XM_047446126.1:c.4383C>T, XM_047446127.1:c.4350C>T, XM_047446128.1:c.4329C>T, XM_047446122.1:c.4479C>T, XM_047446130.1:c.4299C>T, XM_047446124.1:c.4461C>T, XM_047446129.1:c.4320C>T, XM_047446131.1:c.4266C>T, XM_047446134.1:c.4245C>T, XM_047446135.1:c.4092C>T

                8.

                rs1487561765 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  2:159230288 (GRCh38)
                  2:160086799 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:159230287:C:T
                  Gene:
                  TANC1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000002.12:g.159230288C>T, NC_000002.11:g.160086799C>T, XM_006712810.4:c.4862C>T, XM_006712810.3:c.4862C>T, XM_006712810.2:c.4862C>T, XM_006712810.1:c.4862C>T, XM_006712814.4:c.4310C>T, XM_006712814.3:c.4310C>T, XM_006712814.2:c.4310C>T, XM_006712814.1:c.4310C>T, XM_017005143.3:c.4928C>T, XM_017005143.2:c.4928C>T, XM_017005143.1:c.4928C>T, NM_033394.3:c.4862C>T, NM_033394.2:c.4862C>T, XM_011512053.3:c.4916C>T, XM_011512053.2:c.4916C>T, XM_011512053.1:c.4916C>T, XM_011512059.3:c.4370C>T, XM_011512059.2:c.4370C>T, XM_011512059.1:c.4370C>T, NM_001350065.2:c.4841C>T, NM_001350065.1:c.4841C>T, XM_017005141.2:c.4943C>T, XM_017005141.1:c.4913C>T, NM_001145909.2:c.*670C>T, NM_001145909.1:c.*670C>T, NM_001350064.2:c.4841C>T, NM_001350064.1:c.4841C>T, XM_017005152.2:c.4679C>T, XM_017005152.1:c.4649C>T, NM_001350063.2:c.4493C>T, NM_001350063.1:c.4493C>T, NM_001350062.2:c.4259C>T, NM_001350062.1:c.4259C>T, XM_047446132.1:c.4544C>T, XM_047446110.1:c.4916C>T, XM_047446107.1:c.4946C>T, XM_047446108.1:c.4925C>T, XM_047446109.1:c.4922C>T, XM_047446111.1:c.4892C>T, XM_047446112.1:c.4889C>T, XM_047446114.1:c.4871C>T, XM_047446115.1:c.4868C>T, XM_047446118.1:c.4841C>T, XM_047446120.1:c.4820C>T, XM_047446121.1:c.4787C>T, XM_047446116.1:c.4859C>T, XM_047446125.1:c.4682C>T, XM_047446117.1:c.4841C>T, XM_047446119.1:c.4838C>T, XM_047446126.1:c.4661C>T, XM_047446127.1:c.4628C>T, XM_047446128.1:c.4607C>T, XM_047446122.1:c.4757C>T, XM_047446130.1:c.4577C>T, XM_047446124.1:c.4739C>T, XM_047446129.1:c.4598C>T, XM_047446131.1:c.4544C>T, XM_047446134.1:c.4523C>T, XM_047446135.1:c.4370C>T, XP_006712873.1:p.Pro1621Leu, XP_006712877.1:p.Pro1437Leu, XP_016860632.1:p.Pro1643Leu, NP_203752.2:p.Pro1621Leu, XP_011510355.1:p.Pro1639Leu, XP_011510361.1:p.Pro1457Leu, NP_001336994.1:p.Pro1614Leu, XP_016860630.2:p.Pro1648Leu, NP_001336993.1:p.Pro1614Leu, XP_016860641.2:p.Pro1560Leu, NP_001336992.1:p.Pro1498Leu, NP_001336991.1:p.Pro1420Leu, XP_047302088.1:p.Pro1515Leu, XP_047302066.1:p.Pro1639Leu, XP_047302063.1:p.Pro1649Leu, XP_047302064.1:p.Pro1642Leu, XP_047302065.1:p.Pro1641Leu, XP_047302067.1:p.Pro1631Leu, XP_047302068.1:p.Pro1630Leu, XP_047302070.1:p.Pro1624Leu, XP_047302071.1:p.Pro1623Leu, XP_047302074.1:p.Pro1614Leu, XP_047302076.1:p.Pro1607Leu, XP_047302077.1:p.Pro1596Leu, XP_047302072.1:p.Pro1620Leu, XP_047302081.1:p.Pro1561Leu, XP_047302073.1:p.Pro1614Leu, XP_047302075.1:p.Pro1613Leu, XP_047302082.1:p.Pro1554Leu, XP_047302083.1:p.Pro1543Leu, XP_047302084.1:p.Pro1536Leu, XP_047302078.1:p.Pro1586Leu, XP_047302086.1:p.Pro1526Leu, XP_047302080.1:p.Pro1580Leu, XP_047302085.1:p.Pro1533Leu, XP_047302087.1:p.Pro1515Leu, XP_047302090.1:p.Pro1508Leu, XP_047302091.1:p.Pro1457Leu

                  9.

                  rs1486792524 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    2:159170620 (GRCh38)
                    2:160027131 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:159170619:A:G
                    Gene:
                    TANC1 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    NC_000002.12:g.159170620A>G, NC_000002.11:g.160027131A>G, XM_006712810.4:c.1166A>G, XM_006712810.3:c.1166A>G, XM_006712810.2:c.1166A>G, XM_006712810.1:c.1166A>G, XM_006712814.4:c.614A>G, XM_006712814.3:c.614A>G, XM_006712814.2:c.614A>G, XM_006712814.1:c.614A>G, XM_017005143.3:c.1232A>G, XM_017005143.2:c.1232A>G, XM_017005143.1:c.1232A>G, NM_033394.3:c.1166A>G, NM_033394.2:c.1166A>G, XM_011512053.3:c.1220A>G, XM_011512053.2:c.1220A>G, XM_011512053.1:c.1220A>G, XM_011512059.3:c.674A>G, XM_011512059.2:c.674A>G, XM_011512059.1:c.674A>G, NM_001350065.2:c.1145A>G, NM_001350065.1:c.1145A>G, XM_017005141.2:c.1247A>G, XM_017005141.1:c.1217A>G, NM_001145909.2:c.1142A>G, NM_001145909.1:c.1142A>G, NM_001350064.2:c.1145A>G, NM_001350064.1:c.1145A>G, XM_017005152.2:c.983A>G, XM_017005152.1:c.953A>G, NM_001350063.2:c.797A>G, NM_001350063.1:c.797A>G, NM_001350062.2:c.563A>G, NM_001350062.1:c.563A>G, XM_047446132.1:c.848A>G, XM_047446110.1:c.1220A>G, XM_047446107.1:c.1250A>G, XM_047446108.1:c.1229A>G, XM_047446109.1:c.1226A>G, XM_047446111.1:c.1196A>G, XM_047446112.1:c.1193A>G, XM_047446114.1:c.1175A>G, XM_047446115.1:c.1172A>G, XM_047446118.1:c.1145A>G, XM_047446120.1:c.1124A>G, XM_047446121.1:c.1091A>G, XM_047446116.1:c.1163A>G, XM_047446125.1:c.986A>G, XM_047446117.1:c.1145A>G, XM_047446119.1:c.1142A>G, XM_047446126.1:c.965A>G, XM_047446127.1:c.932A>G, XM_047446128.1:c.911A>G, XM_047446122.1:c.1061A>G, XM_047446130.1:c.881A>G, XM_047446124.1:c.1043A>G, XM_047446129.1:c.902A>G, XM_047446131.1:c.848A>G, XM_047446134.1:c.827A>G, XM_047446135.1:c.674A>G, XM_047446136.1:c.938A>G, XP_006712873.1:p.Asp389Gly, XP_006712877.1:p.Asp205Gly, XP_016860632.1:p.Asp411Gly, NP_203752.2:p.Asp389Gly, XP_011510355.1:p.Asp407Gly, XP_011510361.1:p.Asp225Gly, NP_001336994.1:p.Asp382Gly, XP_016860630.2:p.Asp416Gly, NP_001139381.1:p.Asp381Gly, NP_001336993.1:p.Asp382Gly, XP_016860641.2:p.Asp328Gly, NP_001336992.1:p.Asp266Gly, NP_001336991.1:p.Asp188Gly, XP_047302088.1:p.Asp283Gly, XP_047302066.1:p.Asp407Gly, XP_047302063.1:p.Asp417Gly, XP_047302064.1:p.Asp410Gly, XP_047302065.1:p.Asp409Gly, XP_047302067.1:p.Asp399Gly, XP_047302068.1:p.Asp398Gly, XP_047302070.1:p.Asp392Gly, XP_047302071.1:p.Asp391Gly, XP_047302074.1:p.Asp382Gly, XP_047302076.1:p.Asp375Gly, XP_047302077.1:p.Asp364Gly, XP_047302072.1:p.Asp388Gly, XP_047302081.1:p.Asp329Gly, XP_047302073.1:p.Asp382Gly, XP_047302075.1:p.Asp381Gly, XP_047302082.1:p.Asp322Gly, XP_047302083.1:p.Asp311Gly, XP_047302084.1:p.Asp304Gly, XP_047302078.1:p.Asp354Gly, XP_047302086.1:p.Asp294Gly, XP_047302080.1:p.Asp348Gly, XP_047302085.1:p.Asp301Gly, XP_047302087.1:p.Asp283Gly, XP_047302090.1:p.Asp276Gly, XP_047302091.1:p.Asp225Gly, XP_047302092.1:p.Asp313Gly

                    10.

                    rs1484972577 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      2:159196610 (GRCh38)
                      2:160053121 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:159196609:G:A
                      Gene:
                      TANC1 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000002.12:g.159196610G>A, NC_000002.11:g.160053121G>A, XM_006712810.4:c.2982G>A, XM_006712810.3:c.2982G>A, XM_006712810.2:c.2982G>A, XM_006712810.1:c.2982G>A, XM_006712814.4:c.2430G>A, XM_006712814.3:c.2430G>A, XM_006712814.2:c.2430G>A, XM_006712814.1:c.2430G>A, XM_017005143.3:c.3048G>A, XM_017005143.2:c.3048G>A, XM_017005143.1:c.3048G>A, NM_033394.3:c.2982G>A, NM_033394.2:c.2982G>A, XM_011512053.3:c.3036G>A, XM_011512053.2:c.3036G>A, XM_011512053.1:c.3036G>A, XM_011512059.3:c.2490G>A, XM_011512059.2:c.2490G>A, XM_011512059.1:c.2490G>A, NM_001350065.2:c.2961G>A, NM_001350065.1:c.2961G>A, XM_017005141.2:c.3063G>A, XM_017005141.1:c.3033G>A, NM_001145909.2:c.2958G>A, NM_001145909.1:c.2958G>A, NM_001350064.2:c.2961G>A, NM_001350064.1:c.2961G>A, XM_017005152.2:c.2799G>A, XM_017005152.1:c.2769G>A, NM_001350063.2:c.2613G>A, NM_001350063.1:c.2613G>A, NM_001350062.2:c.2379G>A, NM_001350062.1:c.2379G>A, XM_047446132.1:c.2664G>A, XM_047446110.1:c.3036G>A, XM_047446107.1:c.3066G>A, XM_047446108.1:c.3045G>A, XM_047446109.1:c.3042G>A, XM_047446111.1:c.3012G>A, XM_047446112.1:c.3009G>A, XM_047446114.1:c.2991G>A, XM_047446115.1:c.2988G>A, XM_047446118.1:c.2961G>A, XM_047446120.1:c.2940G>A, XM_047446121.1:c.2907G>A, XM_047446116.1:c.2979G>A, XM_047446125.1:c.2802G>A, XM_047446117.1:c.2961G>A, XM_047446119.1:c.2958G>A, XM_047446126.1:c.2781G>A, XM_047446127.1:c.2748G>A, XM_047446128.1:c.2727G>A, XM_047446122.1:c.2877G>A, XM_047446130.1:c.2697G>A, XM_047446124.1:c.2859G>A, XM_047446129.1:c.2718G>A, XM_047446131.1:c.2664G>A, XM_047446134.1:c.2643G>A, XM_047446135.1:c.2490G>A, XM_047446136.1:c.2754G>A

                      11.

                      rs1483751577 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        2:159230327 (GRCh38)
                        2:160086838 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:159230326:C:G
                        Gene:
                        TANC1 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000008/2 (TOPMED)
                        G=0.000035/1 (TOMMO)
                        HGVS:
                        NC_000002.12:g.159230327C>G, NC_000002.11:g.160086838C>G, XM_006712810.4:c.4901C>G, XM_006712810.3:c.4901C>G, XM_006712810.2:c.4901C>G, XM_006712810.1:c.4901C>G, XM_006712814.4:c.4349C>G, XM_006712814.3:c.4349C>G, XM_006712814.2:c.4349C>G, XM_006712814.1:c.4349C>G, XM_017005143.3:c.4967C>G, XM_017005143.2:c.4967C>G, XM_017005143.1:c.4967C>G, NM_033394.3:c.4901C>G, NM_033394.2:c.4901C>G, XM_011512053.3:c.4955C>G, XM_011512053.2:c.4955C>G, XM_011512053.1:c.4955C>G, XM_011512059.3:c.4409C>G, XM_011512059.2:c.4409C>G, XM_011512059.1:c.4409C>G, NM_001350065.2:c.4880C>G, NM_001350065.1:c.4880C>G, XM_017005141.2:c.4982C>G, XM_017005141.1:c.4952C>G, NM_001145909.2:c.*709C>G, NM_001145909.1:c.*709C>G, NM_001350064.2:c.4880C>G, NM_001350064.1:c.4880C>G, XM_017005152.2:c.4718C>G, XM_017005152.1:c.4688C>G, NM_001350063.2:c.4532C>G, NM_001350063.1:c.4532C>G, NM_001350062.2:c.4298C>G, NM_001350062.1:c.4298C>G, XM_047446132.1:c.4583C>G, XM_047446110.1:c.4955C>G, XM_047446107.1:c.4985C>G, XM_047446108.1:c.4964C>G, XM_047446109.1:c.4961C>G, XM_047446111.1:c.4931C>G, XM_047446112.1:c.4928C>G, XM_047446114.1:c.4910C>G, XM_047446115.1:c.4907C>G, XM_047446118.1:c.4880C>G, XM_047446120.1:c.4859C>G, XM_047446121.1:c.4826C>G, XM_047446116.1:c.4898C>G, XM_047446125.1:c.4721C>G, XM_047446117.1:c.4880C>G, XM_047446119.1:c.4877C>G, XM_047446126.1:c.4700C>G, XM_047446127.1:c.4667C>G, XM_047446128.1:c.4646C>G, XM_047446122.1:c.4796C>G, XM_047446130.1:c.4616C>G, XM_047446124.1:c.4778C>G, XM_047446129.1:c.4637C>G, XM_047446131.1:c.4583C>G, XM_047446134.1:c.4562C>G, XM_047446135.1:c.4409C>G, XP_006712873.1:p.Ser1634Cys, XP_006712877.1:p.Ser1450Cys, XP_016860632.1:p.Ser1656Cys, NP_203752.2:p.Ser1634Cys, XP_011510355.1:p.Ser1652Cys, XP_011510361.1:p.Ser1470Cys, NP_001336994.1:p.Ser1627Cys, XP_016860630.2:p.Ser1661Cys, NP_001336993.1:p.Ser1627Cys, XP_016860641.2:p.Ser1573Cys, NP_001336992.1:p.Ser1511Cys, NP_001336991.1:p.Ser1433Cys, XP_047302088.1:p.Ser1528Cys, XP_047302066.1:p.Ser1652Cys, XP_047302063.1:p.Ser1662Cys, XP_047302064.1:p.Ser1655Cys, XP_047302065.1:p.Ser1654Cys, XP_047302067.1:p.Ser1644Cys, XP_047302068.1:p.Ser1643Cys, XP_047302070.1:p.Ser1637Cys, XP_047302071.1:p.Ser1636Cys, XP_047302074.1:p.Ser1627Cys, XP_047302076.1:p.Ser1620Cys, XP_047302077.1:p.Ser1609Cys, XP_047302072.1:p.Ser1633Cys, XP_047302081.1:p.Ser1574Cys, XP_047302073.1:p.Ser1627Cys, XP_047302075.1:p.Ser1626Cys, XP_047302082.1:p.Ser1567Cys, XP_047302083.1:p.Ser1556Cys, XP_047302084.1:p.Ser1549Cys, XP_047302078.1:p.Ser1599Cys, XP_047302086.1:p.Ser1539Cys, XP_047302080.1:p.Ser1593Cys, XP_047302085.1:p.Ser1546Cys, XP_047302087.1:p.Ser1528Cys, XP_047302090.1:p.Ser1521Cys, XP_047302091.1:p.Ser1470Cys

                        12.

                        rs1483716806 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          2:159230199 (GRCh38)
                          2:160086710 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:159230198:A:G
                          Gene:
                          TANC1 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000002.12:g.159230199A>G, NC_000002.11:g.160086710A>G, XM_006712810.4:c.4773A>G, XM_006712810.3:c.4773A>G, XM_006712810.2:c.4773A>G, XM_006712810.1:c.4773A>G, XM_006712814.4:c.4221A>G, XM_006712814.3:c.4221A>G, XM_006712814.2:c.4221A>G, XM_006712814.1:c.4221A>G, XM_017005143.3:c.4839A>G, XM_017005143.2:c.4839A>G, XM_017005143.1:c.4839A>G, NM_033394.3:c.4773A>G, NM_033394.2:c.4773A>G, XM_011512053.3:c.4827A>G, XM_011512053.2:c.4827A>G, XM_011512053.1:c.4827A>G, XM_011512059.3:c.4281A>G, XM_011512059.2:c.4281A>G, XM_011512059.1:c.4281A>G, NM_001350065.2:c.4752A>G, NM_001350065.1:c.4752A>G, XM_017005141.2:c.4854A>G, XM_017005141.1:c.4824A>G, NM_001145909.2:c.*581A>G, NM_001145909.1:c.*581A>G, NM_001350064.2:c.4752A>G, NM_001350064.1:c.4752A>G, XM_017005152.2:c.4590A>G, XM_017005152.1:c.4560A>G, NM_001350063.2:c.4404A>G, NM_001350063.1:c.4404A>G, NM_001350062.2:c.4170A>G, NM_001350062.1:c.4170A>G, XM_047446132.1:c.4455A>G, XM_047446110.1:c.4827A>G, XM_047446107.1:c.4857A>G, XM_047446108.1:c.4836A>G, XM_047446109.1:c.4833A>G, XM_047446111.1:c.4803A>G, XM_047446112.1:c.4800A>G, XM_047446114.1:c.4782A>G, XM_047446115.1:c.4779A>G, XM_047446118.1:c.4752A>G, XM_047446120.1:c.4731A>G, XM_047446121.1:c.4698A>G, XM_047446116.1:c.4770A>G, XM_047446125.1:c.4593A>G, XM_047446117.1:c.4752A>G, XM_047446119.1:c.4749A>G, XM_047446126.1:c.4572A>G, XM_047446127.1:c.4539A>G, XM_047446128.1:c.4518A>G, XM_047446122.1:c.4668A>G, XM_047446130.1:c.4488A>G, XM_047446124.1:c.4650A>G, XM_047446129.1:c.4509A>G, XM_047446131.1:c.4455A>G, XM_047446134.1:c.4434A>G, XM_047446135.1:c.4281A>G

                          13.

                          rs1483699479 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            2:159224271 (GRCh38)
                            2:160080782 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:159224270:G:A
                            Gene:
                            TANC1 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.159224271G>A, NC_000002.11:g.160080782G>A, XM_006712810.4:c.3718G>A, XM_006712810.3:c.3718G>A, XM_006712810.2:c.3718G>A, XM_006712810.1:c.3718G>A, XM_006712814.4:c.3166G>A, XM_006712814.3:c.3166G>A, XM_006712814.2:c.3166G>A, XM_006712814.1:c.3166G>A, XM_017005143.3:c.3784G>A, XM_017005143.2:c.3784G>A, XM_017005143.1:c.3784G>A, NM_033394.3:c.3718G>A, NM_033394.2:c.3718G>A, XM_011512053.3:c.3772G>A, XM_011512053.2:c.3772G>A, XM_011512053.1:c.3772G>A, XM_011512059.3:c.3226G>A, XM_011512059.2:c.3226G>A, XM_011512059.1:c.3226G>A, NM_001350065.2:c.3697G>A, NM_001350065.1:c.3697G>A, XM_017005141.2:c.3799G>A, XM_017005141.1:c.3769G>A, NM_001145909.2:c.3694G>A, NM_001145909.1:c.3694G>A, NM_001350064.2:c.3697G>A, NM_001350064.1:c.3697G>A, XM_017005152.2:c.3535G>A, XM_017005152.1:c.3505G>A, NM_001350063.2:c.3349G>A, NM_001350063.1:c.3349G>A, NM_001350062.2:c.3115G>A, NM_001350062.1:c.3115G>A, XM_047446132.1:c.3400G>A, XM_047446110.1:c.3772G>A, XM_047446107.1:c.3802G>A, XM_047446108.1:c.3781G>A, XM_047446109.1:c.3778G>A, XM_047446111.1:c.3748G>A, XM_047446112.1:c.3745G>A, XM_047446114.1:c.3727G>A, XM_047446115.1:c.3724G>A, XM_047446118.1:c.3697G>A, XM_047446120.1:c.3676G>A, XM_047446121.1:c.3643G>A, XM_047446116.1:c.3715G>A, XM_047446125.1:c.3538G>A, XM_047446117.1:c.3697G>A, XM_047446119.1:c.3694G>A, XM_047446126.1:c.3517G>A, XM_047446127.1:c.3484G>A, XM_047446128.1:c.3463G>A, XM_047446122.1:c.3613G>A, XM_047446130.1:c.3433G>A, XM_047446124.1:c.3595G>A, XM_047446129.1:c.3454G>A, XM_047446131.1:c.3400G>A, XM_047446134.1:c.3379G>A, XM_047446135.1:c.3226G>A, XP_006712873.1:p.Val1240Met, XP_006712877.1:p.Val1056Met, XP_016860632.1:p.Val1262Met, NP_203752.2:p.Val1240Met, XP_011510355.1:p.Val1258Met, XP_011510361.1:p.Val1076Met, NP_001336994.1:p.Val1233Met, XP_016860630.2:p.Val1267Met, NP_001139381.1:p.Val1232Met, NP_001336993.1:p.Val1233Met, XP_016860641.2:p.Val1179Met, NP_001336992.1:p.Val1117Met, NP_001336991.1:p.Val1039Met, XP_047302088.1:p.Val1134Met, XP_047302066.1:p.Val1258Met, XP_047302063.1:p.Val1268Met, XP_047302064.1:p.Val1261Met, XP_047302065.1:p.Val1260Met, XP_047302067.1:p.Val1250Met, XP_047302068.1:p.Val1249Met, XP_047302070.1:p.Val1243Met, XP_047302071.1:p.Val1242Met, XP_047302074.1:p.Val1233Met, XP_047302076.1:p.Val1226Met, XP_047302077.1:p.Val1215Met, XP_047302072.1:p.Val1239Met, XP_047302081.1:p.Val1180Met, XP_047302073.1:p.Val1233Met, XP_047302075.1:p.Val1232Met, XP_047302082.1:p.Val1173Met, XP_047302083.1:p.Val1162Met, XP_047302084.1:p.Val1155Met, XP_047302078.1:p.Val1205Met, XP_047302086.1:p.Val1145Met, XP_047302080.1:p.Val1199Met, XP_047302085.1:p.Val1152Met, XP_047302087.1:p.Val1134Met, XP_047302090.1:p.Val1127Met, XP_047302091.1:p.Val1076Met

                            14.

                            rs1483626160 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              2:159225738 (GRCh38)
                              2:160082249 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:159225737:C:G
                              Gene:
                              TANC1 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.000047/1 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000002.12:g.159225738C>G, NC_000002.11:g.160082249C>G, XM_006712810.4:c.3862C>G, XM_006712810.3:c.3862C>G, XM_006712810.2:c.3862C>G, XM_006712810.1:c.3862C>G, XM_006712814.4:c.3310C>G, XM_006712814.3:c.3310C>G, XM_006712814.2:c.3310C>G, XM_006712814.1:c.3310C>G, XM_017005143.3:c.3928C>G, XM_017005143.2:c.3928C>G, XM_017005143.1:c.3928C>G, NM_033394.3:c.3862C>G, NM_033394.2:c.3862C>G, XM_011512053.3:c.3916C>G, XM_011512053.2:c.3916C>G, XM_011512053.1:c.3916C>G, XM_011512059.3:c.3370C>G, XM_011512059.2:c.3370C>G, XM_011512059.1:c.3370C>G, NM_001350065.2:c.3841C>G, NM_001350065.1:c.3841C>G, XM_017005141.2:c.3943C>G, XM_017005141.1:c.3913C>G, NM_001145909.2:c.3838C>G, NM_001145909.1:c.3838C>G, NM_001350064.2:c.3841C>G, NM_001350064.1:c.3841C>G, XM_017005152.2:c.3679C>G, XM_017005152.1:c.3649C>G, NM_001350063.2:c.3493C>G, NM_001350063.1:c.3493C>G, NM_001350062.2:c.3259C>G, NM_001350062.1:c.3259C>G, XM_047446132.1:c.3544C>G, XM_047446110.1:c.3916C>G, XM_047446107.1:c.3946C>G, XM_047446108.1:c.3925C>G, XM_047446109.1:c.3922C>G, XM_047446111.1:c.3892C>G, XM_047446112.1:c.3889C>G, XM_047446114.1:c.3871C>G, XM_047446115.1:c.3868C>G, XM_047446118.1:c.3841C>G, XM_047446120.1:c.3820C>G, XM_047446121.1:c.3787C>G, XM_047446116.1:c.3859C>G, XM_047446125.1:c.3682C>G, XM_047446117.1:c.3841C>G, XM_047446119.1:c.3838C>G, XM_047446126.1:c.3661C>G, XM_047446127.1:c.3628C>G, XM_047446128.1:c.3607C>G, XM_047446122.1:c.3757C>G, XM_047446130.1:c.3577C>G, XM_047446124.1:c.3739C>G, XM_047446129.1:c.3598C>G, XM_047446131.1:c.3544C>G, XM_047446134.1:c.3523C>G, XM_047446135.1:c.3370C>G, XP_006712873.1:p.Leu1288Val, XP_006712877.1:p.Leu1104Val, XP_016860632.1:p.Leu1310Val, NP_203752.2:p.Leu1288Val, XP_011510355.1:p.Leu1306Val, XP_011510361.1:p.Leu1124Val, NP_001336994.1:p.Leu1281Val, XP_016860630.2:p.Leu1315Val, NP_001139381.1:p.Leu1280Val, NP_001336993.1:p.Leu1281Val, XP_016860641.2:p.Leu1227Val, NP_001336992.1:p.Leu1165Val, NP_001336991.1:p.Leu1087Val, XP_047302088.1:p.Leu1182Val, XP_047302066.1:p.Leu1306Val, XP_047302063.1:p.Leu1316Val, XP_047302064.1:p.Leu1309Val, XP_047302065.1:p.Leu1308Val, XP_047302067.1:p.Leu1298Val, XP_047302068.1:p.Leu1297Val, XP_047302070.1:p.Leu1291Val, XP_047302071.1:p.Leu1290Val, XP_047302074.1:p.Leu1281Val, XP_047302076.1:p.Leu1274Val, XP_047302077.1:p.Leu1263Val, XP_047302072.1:p.Leu1287Val, XP_047302081.1:p.Leu1228Val, XP_047302073.1:p.Leu1281Val, XP_047302075.1:p.Leu1280Val, XP_047302082.1:p.Leu1221Val, XP_047302083.1:p.Leu1210Val, XP_047302084.1:p.Leu1203Val, XP_047302078.1:p.Leu1253Val, XP_047302086.1:p.Leu1193Val, XP_047302080.1:p.Leu1247Val, XP_047302085.1:p.Leu1200Val, XP_047302087.1:p.Leu1182Val, XP_047302090.1:p.Leu1175Val, XP_047302091.1:p.Leu1124Val

                              15.

                              rs1483326326 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                2:159230891 (GRCh38)
                                2:160087402 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:159230890:C:T
                                Gene:
                                TANC1 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000002.12:g.159230891C>T, NC_000002.11:g.160087402C>T, XM_006712810.4:c.5465C>T, XM_006712810.3:c.5465C>T, XM_006712810.2:c.5465C>T, XM_006712810.1:c.5465C>T, XM_006712814.4:c.4913C>T, XM_006712814.3:c.4913C>T, XM_006712814.2:c.4913C>T, XM_006712814.1:c.4913C>T, XM_017005143.3:c.5531C>T, XM_017005143.2:c.5531C>T, XM_017005143.1:c.5531C>T, NM_033394.3:c.5465C>T, NM_033394.2:c.5465C>T, XM_011512053.3:c.5519C>T, XM_011512053.2:c.5519C>T, XM_011512053.1:c.5519C>T, XM_011512059.3:c.4973C>T, XM_011512059.2:c.4973C>T, XM_011512059.1:c.4973C>T, NM_001350065.2:c.5444C>T, NM_001350065.1:c.5444C>T, XM_017005141.2:c.5546C>T, XM_017005141.1:c.5516C>T, NM_001145909.2:c.*1273C>T, NM_001145909.1:c.*1273C>T, NM_001350064.2:c.5444C>T, NM_001350064.1:c.5444C>T, XM_017005152.2:c.5282C>T, XM_017005152.1:c.5252C>T, NM_001350063.2:c.5096C>T, NM_001350063.1:c.5096C>T, NM_001350062.2:c.4862C>T, NM_001350062.1:c.4862C>T, XM_047446132.1:c.5147C>T, XM_047446110.1:c.5519C>T, XM_047446107.1:c.5549C>T, XM_047446108.1:c.5528C>T, XM_047446109.1:c.5525C>T, XM_047446111.1:c.5495C>T, XM_047446112.1:c.5492C>T, XM_047446114.1:c.5474C>T, XM_047446115.1:c.5471C>T, XM_047446118.1:c.5444C>T, XM_047446120.1:c.5423C>T, XM_047446121.1:c.5390C>T, XM_047446116.1:c.5462C>T, XM_047446125.1:c.5285C>T, XM_047446117.1:c.5444C>T, XM_047446119.1:c.5441C>T, XM_047446126.1:c.5264C>T, XM_047446127.1:c.5231C>T, XM_047446128.1:c.5210C>T, XM_047446122.1:c.5360C>T, XM_047446130.1:c.5180C>T, XM_047446124.1:c.5342C>T, XM_047446129.1:c.5201C>T, XM_047446131.1:c.5147C>T, XM_047446134.1:c.5126C>T, XM_047446135.1:c.4973C>T, XP_006712873.1:p.Thr1822Ile, XP_006712877.1:p.Thr1638Ile, XP_016860632.1:p.Thr1844Ile, NP_203752.2:p.Thr1822Ile, XP_011510355.1:p.Thr1840Ile, XP_011510361.1:p.Thr1658Ile, NP_001336994.1:p.Thr1815Ile, XP_016860630.2:p.Thr1849Ile, NP_001336993.1:p.Thr1815Ile, XP_016860641.2:p.Thr1761Ile, NP_001336992.1:p.Thr1699Ile, NP_001336991.1:p.Thr1621Ile, XP_047302088.1:p.Thr1716Ile, XP_047302066.1:p.Thr1840Ile, XP_047302063.1:p.Thr1850Ile, XP_047302064.1:p.Thr1843Ile, XP_047302065.1:p.Thr1842Ile, XP_047302067.1:p.Thr1832Ile, XP_047302068.1:p.Thr1831Ile, XP_047302070.1:p.Thr1825Ile, XP_047302071.1:p.Thr1824Ile, XP_047302074.1:p.Thr1815Ile, XP_047302076.1:p.Thr1808Ile, XP_047302077.1:p.Thr1797Ile, XP_047302072.1:p.Thr1821Ile, XP_047302081.1:p.Thr1762Ile, XP_047302073.1:p.Thr1815Ile, XP_047302075.1:p.Thr1814Ile, XP_047302082.1:p.Thr1755Ile, XP_047302083.1:p.Thr1744Ile, XP_047302084.1:p.Thr1737Ile, XP_047302078.1:p.Thr1787Ile, XP_047302086.1:p.Thr1727Ile, XP_047302080.1:p.Thr1781Ile, XP_047302085.1:p.Thr1734Ile, XP_047302087.1:p.Thr1716Ile, XP_047302090.1:p.Thr1709Ile, XP_047302091.1:p.Thr1658Ile

                                16.

                                rs1482447314 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  2:159217595 (GRCh38)
                                  2:160074106 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:159217594:C:T
                                  Gene:
                                  TANC1 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000002.12:g.159217595C>T, NC_000002.11:g.160074106C>T, XM_006712810.4:c.3343C>T, XM_006712810.3:c.3343C>T, XM_006712810.2:c.3343C>T, XM_006712810.1:c.3343C>T, XM_006712814.4:c.2791C>T, XM_006712814.3:c.2791C>T, XM_006712814.2:c.2791C>T, XM_006712814.1:c.2791C>T, XM_017005143.3:c.3409C>T, XM_017005143.2:c.3409C>T, XM_017005143.1:c.3409C>T, NM_033394.3:c.3343C>T, NM_033394.2:c.3343C>T, XM_011512053.3:c.3397C>T, XM_011512053.2:c.3397C>T, XM_011512053.1:c.3397C>T, XM_011512059.3:c.2851C>T, XM_011512059.2:c.2851C>T, XM_011512059.1:c.2851C>T, NM_001350065.2:c.3322C>T, NM_001350065.1:c.3322C>T, XM_017005141.2:c.3424C>T, XM_017005141.1:c.3394C>T, NM_001145909.2:c.3319C>T, NM_001145909.1:c.3319C>T, NM_001350064.2:c.3322C>T, NM_001350064.1:c.3322C>T, XM_017005152.2:c.3160C>T, XM_017005152.1:c.3130C>T, NM_001350063.2:c.2974C>T, NM_001350063.1:c.2974C>T, NM_001350062.2:c.2740C>T, NM_001350062.1:c.2740C>T, XM_047446132.1:c.3025C>T, XM_047446110.1:c.3397C>T, XM_047446107.1:c.3427C>T, XM_047446108.1:c.3406C>T, XM_047446109.1:c.3403C>T, XM_047446111.1:c.3373C>T, XM_047446112.1:c.3370C>T, XM_047446114.1:c.3352C>T, XM_047446115.1:c.3349C>T, XM_047446118.1:c.3322C>T, XM_047446120.1:c.3301C>T, XM_047446121.1:c.3268C>T, XM_047446116.1:c.3340C>T, XM_047446125.1:c.3163C>T, XM_047446117.1:c.3322C>T, XM_047446119.1:c.3319C>T, XM_047446126.1:c.3142C>T, XM_047446127.1:c.3109C>T, XM_047446128.1:c.3088C>T, XM_047446122.1:c.3238C>T, XM_047446130.1:c.3058C>T, XM_047446124.1:c.3220C>T, XM_047446129.1:c.3079C>T, XM_047446131.1:c.3025C>T, XM_047446134.1:c.3004C>T, XM_047446135.1:c.2851C>T, XM_047446136.1:c.3115C>T, XP_006712873.1:p.Pro1115Ser, XP_006712877.1:p.Pro931Ser, XP_016860632.1:p.Pro1137Ser, NP_203752.2:p.Pro1115Ser, XP_011510355.1:p.Pro1133Ser, XP_011510361.1:p.Pro951Ser, NP_001336994.1:p.Pro1108Ser, XP_016860630.2:p.Pro1142Ser, NP_001139381.1:p.Pro1107Ser, NP_001336993.1:p.Pro1108Ser, XP_016860641.2:p.Pro1054Ser, NP_001336992.1:p.Pro992Ser, NP_001336991.1:p.Pro914Ser, XP_047302088.1:p.Pro1009Ser, XP_047302066.1:p.Pro1133Ser, XP_047302063.1:p.Pro1143Ser, XP_047302064.1:p.Pro1136Ser, XP_047302065.1:p.Pro1135Ser, XP_047302067.1:p.Pro1125Ser, XP_047302068.1:p.Pro1124Ser, XP_047302070.1:p.Pro1118Ser, XP_047302071.1:p.Pro1117Ser, XP_047302074.1:p.Pro1108Ser, XP_047302076.1:p.Pro1101Ser, XP_047302077.1:p.Pro1090Ser, XP_047302072.1:p.Pro1114Ser, XP_047302081.1:p.Pro1055Ser, XP_047302073.1:p.Pro1108Ser, XP_047302075.1:p.Pro1107Ser, XP_047302082.1:p.Pro1048Ser, XP_047302083.1:p.Pro1037Ser, XP_047302084.1:p.Pro1030Ser, XP_047302078.1:p.Pro1080Ser, XP_047302086.1:p.Pro1020Ser, XP_047302080.1:p.Pro1074Ser, XP_047302085.1:p.Pro1027Ser, XP_047302087.1:p.Pro1009Ser, XP_047302090.1:p.Pro1002Ser, XP_047302091.1:p.Pro951Ser, XP_047302092.1:p.Pro1039Ser

                                  17.

                                  rs1482219963 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    2:159186973 (GRCh38)
                                    2:160043484 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:159186972:G:A
                                    Gene:
                                    TANC1 (Varview), MIR6888 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000002.12:g.159186973G>A, NC_000002.11:g.160043484G>A, XM_006712810.4:c.2691G>A, XM_006712810.3:c.2691G>A, XM_006712810.2:c.2691G>A, XM_006712810.1:c.2691G>A, XM_006712814.4:c.2139G>A, XM_006712814.3:c.2139G>A, XM_006712814.2:c.2139G>A, XM_006712814.1:c.2139G>A, XM_017005143.3:c.2757G>A, XM_017005143.2:c.2757G>A, XM_017005143.1:c.2757G>A, NM_033394.3:c.2691G>A, NM_033394.2:c.2691G>A, XM_011512053.3:c.2745G>A, XM_011512053.2:c.2745G>A, XM_011512053.1:c.2745G>A, XM_011512059.3:c.2199G>A, XM_011512059.2:c.2199G>A, XM_011512059.1:c.2199G>A, NM_001350065.2:c.2670G>A, NM_001350065.1:c.2670G>A, XM_017005141.2:c.2772G>A, XM_017005141.1:c.2742G>A, NM_001145909.2:c.2667G>A, NM_001145909.1:c.2667G>A, NM_001350064.2:c.2670G>A, NM_001350064.1:c.2670G>A, XM_017005152.2:c.2508G>A, XM_017005152.1:c.2478G>A, NM_001350063.2:c.2322G>A, NM_001350063.1:c.2322G>A, NM_001350062.2:c.2088G>A, NM_001350062.1:c.2088G>A, XM_047446132.1:c.2373G>A, XM_047446110.1:c.2745G>A, XM_047446107.1:c.2775G>A, XM_047446108.1:c.2754G>A, XM_047446109.1:c.2751G>A, XM_047446111.1:c.2721G>A, XM_047446112.1:c.2718G>A, XM_047446114.1:c.2700G>A, XM_047446115.1:c.2697G>A, XM_047446118.1:c.2670G>A, XM_047446120.1:c.2649G>A, XM_047446121.1:c.2616G>A, XM_047446116.1:c.2688G>A, XM_047446125.1:c.2511G>A, XM_047446117.1:c.2670G>A, XM_047446119.1:c.2667G>A, XM_047446126.1:c.2490G>A, XM_047446127.1:c.2457G>A, XM_047446128.1:c.2436G>A, XM_047446122.1:c.2586G>A, XM_047446130.1:c.2406G>A, XM_047446124.1:c.2568G>A, XM_047446129.1:c.2427G>A, XM_047446131.1:c.2373G>A, XM_047446134.1:c.2352G>A, XM_047446135.1:c.2199G>A, XM_047446136.1:c.2463G>A

                                    18.

                                    rs1482100849 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      2:159217587 (GRCh38)
                                      2:160074098 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:159217586:G:A,NC_000002.12:159217586:G:C
                                      Gene:
                                      TANC1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000002.12:g.159217587G>A, NC_000002.12:g.159217587G>C, NC_000002.11:g.160074098G>A, NC_000002.11:g.160074098G>C, XM_006712810.4:c.3335G>A, XM_006712810.4:c.3335G>C, XM_006712810.3:c.3335G>A, XM_006712810.3:c.3335G>C, XM_006712810.2:c.3335G>A, XM_006712810.2:c.3335G>C, XM_006712810.1:c.3335G>A, XM_006712810.1:c.3335G>C, XM_006712814.4:c.2783G>A, XM_006712814.4:c.2783G>C, XM_006712814.3:c.2783G>A, XM_006712814.3:c.2783G>C, XM_006712814.2:c.2783G>A, XM_006712814.2:c.2783G>C, XM_006712814.1:c.2783G>A, XM_006712814.1:c.2783G>C, XM_017005143.3:c.3401G>A, XM_017005143.3:c.3401G>C, XM_017005143.2:c.3401G>A, XM_017005143.2:c.3401G>C, XM_017005143.1:c.3401G>A, XM_017005143.1:c.3401G>C, NM_033394.3:c.3335G>A, NM_033394.3:c.3335G>C, NM_033394.2:c.3335G>A, NM_033394.2:c.3335G>C, XM_011512053.3:c.3389G>A, XM_011512053.3:c.3389G>C, XM_011512053.2:c.3389G>A, XM_011512053.2:c.3389G>C, XM_011512053.1:c.3389G>A, XM_011512053.1:c.3389G>C, XM_011512059.3:c.2843G>A, XM_011512059.3:c.2843G>C, XM_011512059.2:c.2843G>A, XM_011512059.2:c.2843G>C, XM_011512059.1:c.2843G>A, XM_011512059.1:c.2843G>C, NM_001350065.2:c.3314G>A, NM_001350065.2:c.3314G>C, NM_001350065.1:c.3314G>A, NM_001350065.1:c.3314G>C, XM_017005141.2:c.3416G>A, XM_017005141.2:c.3416G>C, XM_017005141.1:c.3386G>A, XM_017005141.1:c.3386G>C, NM_001145909.2:c.3311G>A, NM_001145909.2:c.3311G>C, NM_001145909.1:c.3311G>A, NM_001145909.1:c.3311G>C, NM_001350064.2:c.3314G>A, NM_001350064.2:c.3314G>C, NM_001350064.1:c.3314G>A, NM_001350064.1:c.3314G>C, XM_017005152.2:c.3152G>A, XM_017005152.2:c.3152G>C, XM_017005152.1:c.3122G>A, XM_017005152.1:c.3122G>C, NM_001350063.2:c.2966G>A, NM_001350063.2:c.2966G>C, NM_001350063.1:c.2966G>A, NM_001350063.1:c.2966G>C, NM_001350062.2:c.2732G>A, NM_001350062.2:c.2732G>C, NM_001350062.1:c.2732G>A, NM_001350062.1:c.2732G>C, XM_047446132.1:c.3017G>A, XM_047446132.1:c.3017G>C, XM_047446110.1:c.3389G>A, XM_047446110.1:c.3389G>C, XM_047446107.1:c.3419G>A, XM_047446107.1:c.3419G>C, XM_047446108.1:c.3398G>A, XM_047446108.1:c.3398G>C, XM_047446109.1:c.3395G>A, XM_047446109.1:c.3395G>C, XM_047446111.1:c.3365G>A, XM_047446111.1:c.3365G>C, XM_047446112.1:c.3362G>A, XM_047446112.1:c.3362G>C, XM_047446114.1:c.3344G>A, XM_047446114.1:c.3344G>C, XM_047446115.1:c.3341G>A, XM_047446115.1:c.3341G>C, XM_047446118.1:c.3314G>A, XM_047446118.1:c.3314G>C, XM_047446120.1:c.3293G>A, XM_047446120.1:c.3293G>C, XM_047446121.1:c.3260G>A, XM_047446121.1:c.3260G>C, XM_047446116.1:c.3332G>A, XM_047446116.1:c.3332G>C, XM_047446125.1:c.3155G>A, XM_047446125.1:c.3155G>C, XM_047446117.1:c.3314G>A, XM_047446117.1:c.3314G>C, XM_047446119.1:c.3311G>A, XM_047446119.1:c.3311G>C, XM_047446126.1:c.3134G>A, XM_047446126.1:c.3134G>C, XM_047446127.1:c.3101G>A, XM_047446127.1:c.3101G>C, XM_047446128.1:c.3080G>A, XM_047446128.1:c.3080G>C, XM_047446122.1:c.3230G>A, XM_047446122.1:c.3230G>C, XM_047446130.1:c.3050G>A, XM_047446130.1:c.3050G>C, XM_047446124.1:c.3212G>A, XM_047446124.1:c.3212G>C, XM_047446129.1:c.3071G>A, XM_047446129.1:c.3071G>C, XM_047446131.1:c.3017G>A, XM_047446131.1:c.3017G>C, XM_047446134.1:c.2996G>A, XM_047446134.1:c.2996G>C, XM_047446135.1:c.2843G>A, XM_047446135.1:c.2843G>C, XM_047446136.1:c.3107G>A, XM_047446136.1:c.3107G>C, XP_006712873.1:p.Gly1112Glu, XP_006712873.1:p.Gly1112Ala, XP_006712877.1:p.Gly928Glu, XP_006712877.1:p.Gly928Ala, XP_016860632.1:p.Gly1134Glu, XP_016860632.1:p.Gly1134Ala, NP_203752.2:p.Gly1112Glu, NP_203752.2:p.Gly1112Ala, XP_011510355.1:p.Gly1130Glu, XP_011510355.1:p.Gly1130Ala, XP_011510361.1:p.Gly948Glu, XP_011510361.1:p.Gly948Ala, NP_001336994.1:p.Gly1105Glu, NP_001336994.1:p.Gly1105Ala, XP_016860630.2:p.Gly1139Glu, XP_016860630.2:p.Gly1139Ala, NP_001139381.1:p.Gly1104Glu, NP_001139381.1:p.Gly1104Ala, NP_001336993.1:p.Gly1105Glu, NP_001336993.1:p.Gly1105Ala, XP_016860641.2:p.Gly1051Glu, XP_016860641.2:p.Gly1051Ala, NP_001336992.1:p.Gly989Glu, NP_001336992.1:p.Gly989Ala, NP_001336991.1:p.Gly911Glu, NP_001336991.1:p.Gly911Ala, XP_047302088.1:p.Gly1006Glu, XP_047302088.1:p.Gly1006Ala, XP_047302066.1:p.Gly1130Glu, XP_047302066.1:p.Gly1130Ala, XP_047302063.1:p.Gly1140Glu, XP_047302063.1:p.Gly1140Ala, XP_047302064.1:p.Gly1133Glu, XP_047302064.1:p.Gly1133Ala, XP_047302065.1:p.Gly1132Glu, XP_047302065.1:p.Gly1132Ala, XP_047302067.1:p.Gly1122Glu, XP_047302067.1:p.Gly1122Ala, XP_047302068.1:p.Gly1121Glu, XP_047302068.1:p.Gly1121Ala, XP_047302070.1:p.Gly1115Glu, XP_047302070.1:p.Gly1115Ala, XP_047302071.1:p.Gly1114Glu, XP_047302071.1:p.Gly1114Ala, XP_047302074.1:p.Gly1105Glu, XP_047302074.1:p.Gly1105Ala, XP_047302076.1:p.Gly1098Glu, XP_047302076.1:p.Gly1098Ala, XP_047302077.1:p.Gly1087Glu, XP_047302077.1:p.Gly1087Ala, XP_047302072.1:p.Gly1111Glu, XP_047302072.1:p.Gly1111Ala, XP_047302081.1:p.Gly1052Glu, XP_047302081.1:p.Gly1052Ala, XP_047302073.1:p.Gly1105Glu, XP_047302073.1:p.Gly1105Ala, XP_047302075.1:p.Gly1104Glu, XP_047302075.1:p.Gly1104Ala, XP_047302082.1:p.Gly1045Glu, XP_047302082.1:p.Gly1045Ala, XP_047302083.1:p.Gly1034Glu, XP_047302083.1:p.Gly1034Ala, XP_047302084.1:p.Gly1027Glu, XP_047302084.1:p.Gly1027Ala, XP_047302078.1:p.Gly1077Glu, XP_047302078.1:p.Gly1077Ala, XP_047302086.1:p.Gly1017Glu, XP_047302086.1:p.Gly1017Ala, XP_047302080.1:p.Gly1071Glu, XP_047302080.1:p.Gly1071Ala, XP_047302085.1:p.Gly1024Glu, XP_047302085.1:p.Gly1024Ala, XP_047302087.1:p.Gly1006Glu, XP_047302087.1:p.Gly1006Ala, XP_047302090.1:p.Gly999Glu, XP_047302090.1:p.Gly999Ala, XP_047302091.1:p.Gly948Glu, XP_047302091.1:p.Gly948Ala, XP_047302092.1:p.Gly1036Glu, XP_047302092.1:p.Gly1036Ala

                                      19.

                                      rs1480829827 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        2:159149238 (GRCh38)
                                        2:160005749 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:159149237:C:T
                                        Gene:
                                        TANC1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,5_prime_UTR_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000002.12:g.159149238C>T, NC_000002.11:g.160005749C>T, XM_006712810.4:c.461C>T, XM_006712810.3:c.461C>T, XM_006712810.2:c.461C>T, XM_006712810.1:c.461C>T, XM_017005143.3:c.527C>T, XM_017005143.2:c.527C>T, XM_017005143.1:c.527C>T, NM_033394.3:c.461C>T, NM_033394.2:c.461C>T, XM_011512053.3:c.515C>T, XM_011512053.2:c.515C>T, XM_011512053.1:c.515C>T, XM_011512059.3:c.-32C>T, XM_011512059.2:c.-32C>T, XM_011512059.1:c.-32C>T, NM_001350065.2:c.461C>T, NM_001350065.1:c.461C>T, XM_017005141.2:c.542C>T, XM_017005141.1:c.512C>T, NM_001145909.2:c.458C>T, NM_001145909.1:c.458C>T, NM_001350064.2:c.461C>T, NM_001350064.1:c.461C>T, XM_017005152.2:c.542C>T, XM_017005152.1:c.512C>T, NM_001350063.2:c.356C>T, NM_001350063.1:c.356C>T, XM_047446132.1:c.143C>T, XM_047446110.1:c.515C>T, XM_047446107.1:c.545C>T, XM_047446108.1:c.545C>T, XM_047446109.1:c.542C>T, XM_047446111.1:c.491C>T, XM_047446112.1:c.488C>T, XM_047446114.1:c.491C>T, XM_047446115.1:c.488C>T, XM_047446118.1:c.440C>T, XM_047446120.1:c.440C>T, XM_047446121.1:c.386C>T, XM_047446116.1:c.458C>T, XM_047446125.1:c.545C>T, XM_047446117.1:c.461C>T, XM_047446119.1:c.458C>T, XM_047446126.1:c.545C>T, XM_047446127.1:c.491C>T, XM_047446128.1:c.491C>T, XM_047446122.1:c.356C>T, XM_047446130.1:c.440C>T, XM_047446124.1:c.461C>T, XM_047446129.1:c.461C>T, XM_047446135.1:c.-32C>T, XM_047446136.1:c.356C>T, XP_006712873.1:p.Thr154Ile, XP_016860632.1:p.Thr176Ile, NP_203752.2:p.Thr154Ile, XP_011510355.1:p.Thr172Ile, NP_001336994.1:p.Thr154Ile, XP_016860630.2:p.Thr181Ile, NP_001139381.1:p.Thr153Ile, NP_001336993.1:p.Thr154Ile, XP_016860641.2:p.Thr181Ile, NP_001336992.1:p.Thr119Ile, XP_047302088.1:p.Thr48Ile, XP_047302066.1:p.Thr172Ile, XP_047302063.1:p.Thr182Ile, XP_047302064.1:p.Thr182Ile, XP_047302065.1:p.Thr181Ile, XP_047302067.1:p.Thr164Ile, XP_047302068.1:p.Thr163Ile, XP_047302070.1:p.Thr164Ile, XP_047302071.1:p.Thr163Ile, XP_047302074.1:p.Thr147Ile, XP_047302076.1:p.Thr147Ile, XP_047302077.1:p.Thr129Ile, XP_047302072.1:p.Thr153Ile, XP_047302081.1:p.Thr182Ile, XP_047302073.1:p.Thr154Ile, XP_047302075.1:p.Thr153Ile, XP_047302082.1:p.Thr182Ile, XP_047302083.1:p.Thr164Ile, XP_047302084.1:p.Thr164Ile, XP_047302078.1:p.Thr119Ile, XP_047302086.1:p.Thr147Ile, XP_047302080.1:p.Thr154Ile, XP_047302085.1:p.Thr154Ile, XP_047302092.1:p.Thr119Ile

                                        20.

                                        rs1480249410 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          2:159219738 (GRCh38)
                                          2:160076249 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:159219737:C:T
                                          Gene:
                                          TANC1 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000002.12:g.159219738C>T, NC_000002.11:g.160076249C>T, XM_006712810.4:c.3549C>T, XM_006712810.3:c.3549C>T, XM_006712810.2:c.3549C>T, XM_006712810.1:c.3549C>T, XM_006712814.4:c.2997C>T, XM_006712814.3:c.2997C>T, XM_006712814.2:c.2997C>T, XM_006712814.1:c.2997C>T, XM_017005143.3:c.3615C>T, XM_017005143.2:c.3615C>T, XM_017005143.1:c.3615C>T, NM_033394.3:c.3549C>T, NM_033394.2:c.3549C>T, XM_011512053.3:c.3603C>T, XM_011512053.2:c.3603C>T, XM_011512053.1:c.3603C>T, XM_011512059.3:c.3057C>T, XM_011512059.2:c.3057C>T, XM_011512059.1:c.3057C>T, NM_001350065.2:c.3528C>T, NM_001350065.1:c.3528C>T, XM_017005141.2:c.3630C>T, XM_017005141.1:c.3600C>T, NM_001145909.2:c.3525C>T, NM_001145909.1:c.3525C>T, NM_001350064.2:c.3528C>T, NM_001350064.1:c.3528C>T, XM_017005152.2:c.3366C>T, XM_017005152.1:c.3336C>T, NM_001350063.2:c.3180C>T, NM_001350063.1:c.3180C>T, NM_001350062.2:c.2946C>T, NM_001350062.1:c.2946C>T, XM_047446132.1:c.3231C>T, XM_047446110.1:c.3603C>T, XM_047446107.1:c.3633C>T, XM_047446108.1:c.3612C>T, XM_047446109.1:c.3609C>T, XM_047446111.1:c.3579C>T, XM_047446112.1:c.3576C>T, XM_047446114.1:c.3558C>T, XM_047446115.1:c.3555C>T, XM_047446118.1:c.3528C>T, XM_047446120.1:c.3507C>T, XM_047446121.1:c.3474C>T, XM_047446116.1:c.3546C>T, XM_047446125.1:c.3369C>T, XM_047446117.1:c.3528C>T, XM_047446119.1:c.3525C>T, XM_047446126.1:c.3348C>T, XM_047446127.1:c.3315C>T, XM_047446128.1:c.3294C>T, XM_047446122.1:c.3444C>T, XM_047446130.1:c.3264C>T, XM_047446124.1:c.3426C>T, XM_047446129.1:c.3285C>T, XM_047446131.1:c.3231C>T, XM_047446134.1:c.3210C>T, XM_047446135.1:c.3057C>T, XM_047446136.1:c.*198C>T

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