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1.

rs1490089497 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G,T [Show Flanks]
    Chromosome:
    4:113369759 (GRCh38)
    4:114290915 (GRCh37)
    Canonical SPDI:
    NC_000004.12:113369758:A:G,NC_000004.12:113369758:A:T
    Gene:
    ANK2 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000224/1 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000223/1 (Estonian)
    HGVS:
    NC_000004.12:g.113369759A>G, NC_000004.12:g.113369759A>T, NC_000004.11:g.114290915A>G, NC_000004.11:g.114290915A>T, NG_009006.2:g.556677A>G, NG_009006.2:g.556677A>T, NM_001148.6:c.11564A>G, NM_001148.6:c.11564A>T, NM_001148.5:c.11564A>G, NM_001148.5:c.11564A>T, NM_001148.4:c.11564A>G, NM_001148.4:c.11564A>T, NM_020977.5:c.5309A>G, NM_020977.5:c.5309A>T, NM_020977.4:c.5309A>G, NM_020977.4:c.5309A>T, NM_020977.3:c.5309A>G, NM_020977.3:c.5309A>T, NM_001127493.3:c.5282A>G, NM_001127493.3:c.5282A>T, NM_001127493.2:c.5282A>G, NM_001127493.2:c.5282A>T, NM_001127493.1:c.5282A>G, NM_001127493.1:c.5282A>T, NM_001354269.3:c.5096A>G, NM_001354269.3:c.5096A>T, NM_001354269.2:c.5096A>G, NM_001354269.2:c.5096A>T, NM_001354269.1:c.5096A>G, NM_001354269.1:c.5096A>T, NM_001354225.2:c.5321A>G, NM_001354225.2:c.5321A>T, NM_001354225.1:c.5321A>G, NM_001354225.1:c.5321A>T, NM_001354228.2:c.5210A>G, NM_001354228.2:c.5210A>T, NM_001354228.1:c.5210A>G, NM_001354228.1:c.5210A>T, NM_001354232.2:c.5345A>G, NM_001354232.2:c.5345A>T, NM_001354232.1:c.5345A>G, NM_001354232.1:c.5345A>T, NM_001354230.2:c.5288A>G, NM_001354230.2:c.5288A>T, NM_001354230.1:c.5288A>G, NM_001354230.1:c.5288A>T, NM_001354231.2:c.5351A>G, NM_001354231.2:c.5351A>T, NM_001354231.1:c.5351A>G, NM_001354231.1:c.5351A>T, NM_001354235.2:c.5306A>G, NM_001354235.2:c.5306A>T, NM_001354235.1:c.5306A>G, NM_001354235.1:c.5306A>T, NM_001354236.2:c.5207A>G, NM_001354236.2:c.5207A>T, NM_001354236.1:c.5207A>G, NM_001354236.1:c.5207A>T, NM_001354241.2:c.5354A>G, NM_001354241.2:c.5354A>T, NM_001354241.1:c.5354A>G, NM_001354241.1:c.5354A>T, NM_001354237.2:c.5387A>G, NM_001354237.2:c.5387A>T, NM_001354237.1:c.5387A>G, NM_001354237.1:c.5387A>T, NM_001354245.2:c.5147A>G, NM_001354245.2:c.5147A>T, NM_001354245.1:c.5147A>G, NM_001354245.1:c.5147A>T, NM_001354240.2:c.5354A>G, NM_001354240.2:c.5354A>T, NM_001354240.1:c.5354A>G, NM_001354240.1:c.5354A>T, NM_001354242.2:c.5351A>G, NM_001354242.2:c.5351A>T, NM_001354242.1:c.5351A>G, NM_001354242.1:c.5351A>T, NM_001354246.2:c.5306A>G, NM_001354246.2:c.5306A>T, NM_001354246.1:c.5306A>G, NM_001354246.1:c.5306A>T, NM_001354239.2:c.5279A>G, NM_001354239.2:c.5279A>T, NM_001354239.1:c.5279A>G, NM_001354239.1:c.5279A>T, NM_001354243.2:c.5246A>G, NM_001354243.2:c.5246A>T, NM_001354243.1:c.5246A>G, NM_001354243.1:c.5246A>T, NM_001354244.2:c.5243A>G, NM_001354244.2:c.5243A>T, NM_001354244.1:c.5243A>G, NM_001354244.1:c.5243A>T, NM_001354258.2:c.5210A>G, NM_001354258.2:c.5210A>T, NM_001354258.1:c.5210A>G, NM_001354258.1:c.5210A>T, NM_001354249.2:c.5123A>G, NM_001354249.2:c.5123A>T, NM_001354249.1:c.5123A>G, NM_001354249.1:c.5123A>T, NM_001354252.2:c.5279A>G, NM_001354252.2:c.5279A>T, NM_001354252.1:c.5279A>G, NM_001354252.1:c.5279A>T, NM_001354253.2:c.5084A>G, NM_001354253.2:c.5084A>T, NM_001354253.1:c.5084A>G, NM_001354253.1:c.5084A>T, NM_001354254.2:c.5258A>G, NM_001354254.2:c.5258A>T, NM_001354254.1:c.5258A>G, NM_001354254.1:c.5258A>T, NM_001354265.2:c.5306A>G, NM_001354265.2:c.5306A>T, NM_001354265.1:c.5306A>G, NM_001354265.1:c.5306A>T, NM_001354255.2:c.5246A>G, NM_001354255.2:c.5246A>T, NM_001354255.1:c.5246A>G, NM_001354255.1:c.5246A>T, NM_001354256.2:c.5243A>G, NM_001354256.2:c.5243A>T, NM_001354256.1:c.5243A>G, NM_001354256.1:c.5243A>T, NM_001354257.2:c.5048A>G, NM_001354257.2:c.5048A>T, NM_001354257.1:c.5048A>G, NM_001354257.1:c.5048A>T, NM_001354268.2:c.5111A>G, NM_001354268.2:c.5111A>T, NM_001354268.1:c.5111A>G, NM_001354268.1:c.5111A>T, NM_001386186.2:c.5294A>G, NM_001386186.2:c.5294A>T, NM_001386186.1:c.5294A>G, NM_001386186.1:c.5294A>T, NM_001354260.2:c.5024A>G, NM_001354260.2:c.5024A>T, NM_001354260.1:c.5024A>G, NM_001354260.1:c.5024A>T, NM_001354261.2:c.5168A>G, NM_001354261.2:c.5168A>T, NM_001354261.1:c.5168A>G, NM_001354261.1:c.5168A>T, NM_001354262.2:c.5147A>G, NM_001354262.2:c.5147A>T, NM_001354262.1:c.5147A>G, NM_001354262.1:c.5147A>T, NM_001354264.2:c.5144A>G, NM_001354264.2:c.5144A>T, NM_001354264.1:c.5144A>G, NM_001354264.1:c.5144A>T, NM_001354273.2:c.5009A>G, NM_001354273.2:c.5009A>T, NM_001354273.1:c.5009A>G, NM_001354273.1:c.5009A>T, NM_001354266.2:c.5123A>G, NM_001354266.2:c.5123A>T, NM_001354266.1:c.5123A>G, NM_001354266.1:c.5123A>T, NM_001354267.2:c.5123A>G, NM_001354267.2:c.5123A>T, NM_001354267.1:c.5123A>G, NM_001354267.1:c.5123A>T, NM_001354270.2:c.5084A>G, NM_001354270.2:c.5084A>T, NM_001354270.1:c.5084A>G, NM_001354270.1:c.5084A>T, NM_001386148.2:c.5294A>G, NM_001386148.2:c.5294A>T, NM_001386148.1:c.5294A>G, NM_001386148.1:c.5294A>T, NM_001354272.2:c.5180A>G, NM_001354272.2:c.5180A>T, NM_001354272.1:c.5180A>G, NM_001354272.1:c.5180A>T, NM_001354271.2:c.5024A>G, NM_001354271.2:c.5024A>T, NM_001354271.1:c.5024A>G, NM_001354271.1:c.5024A>T, NM_001354274.2:c.5075A>G, NM_001354274.2:c.5075A>T, NM_001354274.1:c.5075A>G, NM_001354274.1:c.5075A>T, NM_001354275.2:c.5147A>G, NM_001354275.2:c.5147A>T, NM_001354275.1:c.5147A>G, NM_001354275.1:c.5147A>T, NM_001354276.2:c.5123A>G, NM_001354276.2:c.5123A>T, NM_001354276.1:c.5123A>G, NM_001354276.1:c.5123A>T, NM_001386187.2:c.5174A>G, NM_001386187.2:c.5174A>T, NM_001386187.1:c.5174A>G, NM_001386187.1:c.5174A>T, NM_001354277.2:c.4925A>G, NM_001354277.2:c.4925A>T, NM_001354277.1:c.4925A>G, NM_001354277.1:c.4925A>T, NM_001354278.2:c.2837A>G, NM_001354278.2:c.2837A>T, NM_001354278.1:c.2837A>G, NM_001354278.1:c.2837A>T, NM_001354279.2:c.2873A>G, NM_001354279.2:c.2873A>T, NM_001354279.1:c.2873A>G, NM_001354279.1:c.2873A>T, NM_001354280.2:c.2858A>G, NM_001354280.2:c.2858A>T, NM_001354280.1:c.2858A>G, NM_001354280.1:c.2858A>T, NM_001354281.2:c.2837A>G, NM_001354281.2:c.2837A>T, NM_001354281.1:c.2837A>G, NM_001354281.1:c.2837A>T, NM_001354282.2:c.2873A>G, NM_001354282.2:c.2873A>T, NM_001354282.1:c.2873A>G, NM_001354282.1:c.2873A>T, NM_001386174.1:c.11705A>G, NM_001386174.1:c.11705A>T, NM_001386175.1:c.11681A>G, NM_001386175.1:c.11681A>T, NM_001386142.1:c.11330A>G, NM_001386142.1:c.11330A>T, NM_001386166.1:c.7964A>G, NM_001386166.1:c.7964A>T, NM_001386144.1:c.5354A>G, NM_001386144.1:c.5354A>T, NM_001386143.1:c.5246A>G, NM_001386143.1:c.5246A>T, NM_001386146.1:c.5090A>G, NM_001386146.1:c.5090A>T, NM_001386160.1:c.5153A>G, NM_001386160.1:c.5153A>T, NM_001386147.1:c.5135A>G, NM_001386147.1:c.5135A>T, NM_001386149.1:c.5090A>G, NM_001386149.1:c.5090A>T, NM_001386152.1:c.5366A>G, NM_001386152.1:c.5366A>T, NM_001386150.1:c.5090A>G, NM_001386150.1:c.5090A>T, NM_001386161.1:c.5243A>G, NM_001386161.1:c.5243A>T, NM_001386151.1:c.5024A>G, NM_001386151.1:c.5024A>T, NM_001386153.1:c.5090A>G, NM_001386153.1:c.5090A>T, NM_001386154.1:c.5075A>G, NM_001386154.1:c.5075A>T, NM_001386156.1:c.5048A>G, NM_001386156.1:c.5048A>T, NM_001386162.1:c.5123A>G, NM_001386162.1:c.5123A>T, NM_001386157.1:c.4925A>G, NM_001386157.1:c.4925A>T, NM_001386158.1:c.4826A>G, NM_001386158.1:c.4826A>T, NM_001386167.1:c.1709A>G, NM_001386167.1:c.1709A>T, NM_001386173.1:c.11603A>G, NM_001386173.1:c.11603A>T, NP_001139.3:p.Gln3855Arg, NP_001139.3:p.Gln3855Leu, NP_066187.2:p.Gln1770Arg, NP_066187.2:p.Gln1770Leu, NP_001120965.1:p.Gln1761Arg, NP_001120965.1:p.Gln1761Leu, NP_001341198.1:p.Gln1699Arg, NP_001341198.1:p.Gln1699Leu, NP_001341154.1:p.Gln1774Arg, NP_001341154.1:p.Gln1774Leu, NP_001341157.1:p.Gln1737Arg, NP_001341157.1:p.Gln1737Leu, NP_001341161.1:p.Gln1782Arg, NP_001341161.1:p.Gln1782Leu, NP_001341159.1:p.Gln1763Arg, NP_001341159.1:p.Gln1763Leu, NP_001341160.1:p.Gln1784Arg, NP_001341160.1:p.Gln1784Leu, NP_001341164.1:p.Gln1769Arg, NP_001341164.1:p.Gln1769Leu, NP_001341165.1:p.Gln1736Arg, NP_001341165.1:p.Gln1736Leu, NP_001341170.1:p.Gln1785Arg, NP_001341170.1:p.Gln1785Leu, NP_001341166.1:p.Gln1796Arg, NP_001341166.1:p.Gln1796Leu, NP_001341174.1:p.Gln1716Arg, NP_001341174.1:p.Gln1716Leu, NP_001341169.1:p.Gln1785Arg, NP_001341169.1:p.Gln1785Leu, NP_001341171.1:p.Gln1784Arg, NP_001341171.1:p.Gln1784Leu, NP_001341175.1:p.Gln1769Arg, NP_001341175.1:p.Gln1769Leu, NP_001341168.1:p.Gln1760Arg, NP_001341168.1:p.Gln1760Leu, NP_001341172.1:p.Gln1749Arg, NP_001341172.1:p.Gln1749Leu, NP_001341173.1:p.Gln1748Arg, NP_001341173.1:p.Gln1748Leu, NP_001341187.1:p.Gln1737Arg, NP_001341187.1:p.Gln1737Leu, NP_001341178.1:p.Gln1708Arg, NP_001341178.1:p.Gln1708Leu, NP_001341181.1:p.Gln1760Arg, NP_001341181.1:p.Gln1760Leu, NP_001341182.1:p.Gln1695Arg, NP_001341182.1:p.Gln1695Leu, NP_001341183.1:p.Gln1753Arg, NP_001341183.1:p.Gln1753Leu, NP_001341194.1:p.Gln1769Arg, NP_001341194.1:p.Gln1769Leu, NP_001341184.1:p.Gln1749Arg, NP_001341184.1:p.Gln1749Leu, NP_001341185.1:p.Gln1748Arg, NP_001341185.1:p.Gln1748Leu, NP_001341186.1:p.Gln1683Arg, NP_001341186.1:p.Gln1683Leu, NP_001341197.1:p.Gln1704Arg, NP_001341197.1:p.Gln1704Leu, NP_001373115.1:p.Gln1765Arg, NP_001373115.1:p.Gln1765Leu, NP_001341189.1:p.Gln1675Arg, NP_001341189.1:p.Gln1675Leu, NP_001341190.1:p.Gln1723Arg, NP_001341190.1:p.Gln1723Leu, NP_001341191.1:p.Gln1716Arg, NP_001341191.1:p.Gln1716Leu, NP_001341193.1:p.Gln1715Arg, NP_001341193.1:p.Gln1715Leu, NP_001341202.1:p.Gln1670Arg, NP_001341202.1:p.Gln1670Leu, NP_001341195.1:p.Gln1708Arg, NP_001341195.1:p.Gln1708Leu, NP_001341196.1:p.Gln1708Arg, NP_001341196.1:p.Gln1708Leu, NP_001341199.1:p.Gln1695Arg, NP_001341199.1:p.Gln1695Leu, NP_001373077.1:p.Gln1765Arg, NP_001373077.1:p.Gln1765Leu, NP_001341201.1:p.Gln1727Arg, NP_001341201.1:p.Gln1727Leu, NP_001341200.1:p.Gln1675Arg, NP_001341200.1:p.Gln1675Leu, NP_001341203.1:p.Gln1692Arg, NP_001341203.1:p.Gln1692Leu, NP_001341204.1:p.Gln1716Arg, NP_001341204.1:p.Gln1716Leu, NP_001341205.1:p.Gln1708Arg, NP_001341205.1:p.Gln1708Leu, NP_001373116.1:p.Gln1725Arg, NP_001373116.1:p.Gln1725Leu, NP_001341206.1:p.Gln1642Arg, NP_001341206.1:p.Gln1642Leu, NP_001341207.1:p.Gln946Arg, NP_001341207.1:p.Gln946Leu, NP_001341208.1:p.Gln958Arg, NP_001341208.1:p.Gln958Leu, NP_001341209.1:p.Gln953Arg, NP_001341209.1:p.Gln953Leu, NP_001341210.1:p.Gln946Arg, NP_001341210.1:p.Gln946Leu, NP_001341211.1:p.Gln958Arg, NP_001341211.1:p.Gln958Leu, NP_001373103.1:p.Gln3902Arg, NP_001373103.1:p.Gln3902Leu, NP_001373104.1:p.Gln3894Arg, NP_001373104.1:p.Gln3894Leu, NP_001373071.1:p.Gln3777Arg, NP_001373071.1:p.Gln3777Leu, NP_001373095.1:p.Gln2655Arg, NP_001373095.1:p.Gln2655Leu, NP_001373073.1:p.Gln1785Arg, NP_001373073.1:p.Gln1785Leu, NP_001373072.1:p.Gln1749Arg, NP_001373072.1:p.Gln1749Leu, NP_001373075.1:p.Gln1697Arg, NP_001373075.1:p.Gln1697Leu, NP_001373089.1:p.Gln1718Arg, NP_001373089.1:p.Gln1718Leu, NP_001373076.1:p.Gln1712Arg, NP_001373076.1:p.Gln1712Leu, NP_001373078.1:p.Gln1697Arg, NP_001373078.1:p.Gln1697Leu, NP_001373081.1:p.Gln1789Arg, NP_001373081.1:p.Gln1789Leu, NP_001373079.1:p.Gln1697Arg, NP_001373079.1:p.Gln1697Leu, NP_001373090.1:p.Gln1748Arg, NP_001373090.1:p.Gln1748Leu, NP_001373080.1:p.Gln1675Arg, NP_001373080.1:p.Gln1675Leu, NP_001373082.1:p.Gln1697Arg, NP_001373082.1:p.Gln1697Leu, NP_001373083.1:p.Gln1692Arg, NP_001373083.1:p.Gln1692Leu, NP_001373085.1:p.Gln1683Arg, NP_001373085.1:p.Gln1683Leu, NP_001373091.1:p.Gln1708Arg, NP_001373091.1:p.Gln1708Leu, NP_001373086.1:p.Gln1642Arg, NP_001373086.1:p.Gln1642Leu, NP_001373087.1:p.Gln1609Arg, NP_001373087.1:p.Gln1609Leu, NP_001373096.1:p.Gln570Arg, NP_001373096.1:p.Gln570Leu

    2.

    rs1488446208 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      4:113336621 (GRCh38)
      4:114257777 (GRCh37)
      Canonical SPDI:
      NC_000004.12:113336620:C:A
      Gene:
      ANK2 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Clinical significance:
      uncertain-significance
      HGVS:
      NC_000004.12:g.113336621C>A, NC_000004.11:g.114257777C>A, NG_009006.2:g.523539C>A, NM_001148.6:c.3636C>A, NM_001148.5:c.3636C>A, NM_001148.4:c.3636C>A, NM_020977.5:c.3636C>A, NM_020977.4:c.3636C>A, NM_020977.3:c.3636C>A, NM_001127493.3:c.3609C>A, NM_001127493.2:c.3609C>A, NM_001127493.1:c.3609C>A, NM_001354269.3:c.3423C>A, NM_001354269.2:c.3423C>A, NM_001354269.1:c.3423C>A, NM_001354225.2:c.3648C>A, NM_001354225.1:c.3648C>A, NM_001354228.2:c.3537C>A, NM_001354228.1:c.3537C>A, NM_001354232.2:c.3672C>A, NM_001354232.1:c.3672C>A, NM_001354230.2:c.3615C>A, NM_001354230.1:c.3615C>A, NM_001354231.2:c.3678C>A, NM_001354231.1:c.3678C>A, NM_001354235.2:c.3633C>A, NM_001354235.1:c.3633C>A, NM_001354236.2:c.3534C>A, NM_001354236.1:c.3534C>A, NM_001354241.2:c.3681C>A, NM_001354241.1:c.3681C>A, NM_001354237.2:c.3714C>A, NM_001354237.1:c.3714C>A, NM_001354245.2:c.3474C>A, NM_001354245.1:c.3474C>A, NM_001354240.2:c.3681C>A, NM_001354240.1:c.3681C>A, NM_001354242.2:c.3678C>A, NM_001354242.1:c.3678C>A, NM_001354246.2:c.3633C>A, NM_001354246.1:c.3633C>A, NM_001354239.2:c.3606C>A, NM_001354239.1:c.3606C>A, NM_001354243.2:c.3573C>A, NM_001354243.1:c.3573C>A, NM_001354244.2:c.3570C>A, NM_001354244.1:c.3570C>A, NM_001354258.2:c.3537C>A, NM_001354258.1:c.3537C>A, NM_001354249.2:c.3450C>A, NM_001354249.1:c.3450C>A, NM_001354252.2:c.3606C>A, NM_001354252.1:c.3606C>A, NM_001354253.2:c.3411C>A, NM_001354253.1:c.3411C>A, NM_001354254.2:c.3585C>A, NM_001354254.1:c.3585C>A, NM_001354265.2:c.3633C>A, NM_001354265.1:c.3633C>A, NM_001354255.2:c.3573C>A, NM_001354255.1:c.3573C>A, NM_001354256.2:c.3570C>A, NM_001354256.1:c.3570C>A, NM_001354257.2:c.3375C>A, NM_001354257.1:c.3375C>A, NM_001354268.2:c.3438C>A, NM_001354268.1:c.3438C>A, NM_001386186.2:c.3621C>A, NM_001386186.1:c.3621C>A, NM_001354260.2:c.3351C>A, NM_001354260.1:c.3351C>A, NM_001354261.2:c.3495C>A, NM_001354261.1:c.3495C>A, NM_001354262.2:c.3474C>A, NM_001354262.1:c.3474C>A, NM_001354264.2:c.3471C>A, NM_001354264.1:c.3471C>A, NM_001354273.2:c.3336C>A, NM_001354273.1:c.3336C>A, NM_001354266.2:c.3450C>A, NM_001354266.1:c.3450C>A, NM_001354267.2:c.3450C>A, NM_001354267.1:c.3450C>A, NM_001354270.2:c.3411C>A, NM_001354270.1:c.3411C>A, NM_001386148.2:c.3621C>A, NM_001386148.1:c.3621C>A, NM_001354272.2:c.3507C>A, NM_001354272.1:c.3507C>A, NM_001354271.2:c.3351C>A, NM_001354271.1:c.3351C>A, NM_001354274.2:c.3435C>A, NM_001354274.1:c.3435C>A, NM_001354275.2:c.3474C>A, NM_001354275.1:c.3474C>A, NM_001354276.2:c.3450C>A, NM_001354276.1:c.3450C>A, NM_001386187.2:c.3501C>A, NM_001386187.1:c.3501C>A, NM_001354277.2:c.3252C>A, NM_001354277.1:c.3252C>A, NM_001354278.2:c.1164C>A, NM_001354278.1:c.1164C>A, NM_001354279.2:c.1200C>A, NM_001354279.1:c.1200C>A, NM_001354280.2:c.1185C>A, NM_001354280.1:c.1185C>A, NM_001354281.2:c.1164C>A, NM_001354281.1:c.1164C>A, NM_001354282.2:c.1200C>A, NM_001354282.1:c.1200C>A, NM_001386174.1:c.3777C>A, NM_001386175.1:c.3753C>A, NM_001386142.1:c.3435C>A, NM_001386166.1:c.36C>A, NM_001386144.1:c.3681C>A, NM_001386143.1:c.3573C>A, NM_001386146.1:c.3450C>A, NM_001386160.1:c.3480C>A, NM_001386147.1:c.3495C>A, NM_001386149.1:c.3450C>A, NM_001386152.1:c.3693C>A, NM_001386150.1:c.3450C>A, NM_001386161.1:c.3570C>A, NM_001386151.1:c.3351C>A, NM_001386153.1:c.3450C>A, NM_001386154.1:c.3435C>A, NM_001386156.1:c.3375C>A, NM_001386162.1:c.3450C>A, NM_001386157.1:c.3252C>A, NM_001386158.1:c.3153C>A, NM_001386167.1:c.36C>A, NM_001386173.1:c.3675C>A, NP_001139.3:p.Asn1212Lys, NP_066187.2:p.Asn1212Lys, NP_001120965.1:p.Asn1203Lys, NP_001341198.1:p.Asn1141Lys, NP_001341154.1:p.Asn1216Lys, NP_001341157.1:p.Asn1179Lys, NP_001341161.1:p.Asn1224Lys, NP_001341159.1:p.Asn1205Lys, NP_001341160.1:p.Asn1226Lys, NP_001341164.1:p.Asn1211Lys, NP_001341165.1:p.Asn1178Lys, NP_001341170.1:p.Asn1227Lys, NP_001341166.1:p.Asn1238Lys, NP_001341174.1:p.Asn1158Lys, NP_001341169.1:p.Asn1227Lys, NP_001341171.1:p.Asn1226Lys, NP_001341175.1:p.Asn1211Lys, NP_001341168.1:p.Asn1202Lys, NP_001341172.1:p.Asn1191Lys, NP_001341173.1:p.Asn1190Lys, NP_001341187.1:p.Asn1179Lys, NP_001341178.1:p.Asn1150Lys, NP_001341181.1:p.Asn1202Lys, NP_001341182.1:p.Asn1137Lys, NP_001341183.1:p.Asn1195Lys, NP_001341194.1:p.Asn1211Lys, NP_001341184.1:p.Asn1191Lys, NP_001341185.1:p.Asn1190Lys, NP_001341186.1:p.Asn1125Lys, NP_001341197.1:p.Asn1146Lys, NP_001373115.1:p.Asn1207Lys, NP_001341189.1:p.Asn1117Lys, NP_001341190.1:p.Asn1165Lys, NP_001341191.1:p.Asn1158Lys, NP_001341193.1:p.Asn1157Lys, NP_001341202.1:p.Asn1112Lys, NP_001341195.1:p.Asn1150Lys, NP_001341196.1:p.Asn1150Lys, NP_001341199.1:p.Asn1137Lys, NP_001373077.1:p.Asn1207Lys, NP_001341201.1:p.Asn1169Lys, NP_001341200.1:p.Asn1117Lys, NP_001341203.1:p.Asn1145Lys, NP_001341204.1:p.Asn1158Lys, NP_001341205.1:p.Asn1150Lys, NP_001373116.1:p.Asn1167Lys, NP_001341206.1:p.Asn1084Lys, NP_001341207.1:p.Asn388Lys, NP_001341208.1:p.Asn400Lys, NP_001341209.1:p.Asn395Lys, NP_001341210.1:p.Asn388Lys, NP_001341211.1:p.Asn400Lys, NP_001373103.1:p.Asn1259Lys, NP_001373104.1:p.Asn1251Lys, NP_001373071.1:p.Asn1145Lys, NP_001373095.1:p.Asn12Lys, NP_001373073.1:p.Asn1227Lys, NP_001373072.1:p.Asn1191Lys, NP_001373075.1:p.Asn1150Lys, NP_001373089.1:p.Asn1160Lys, NP_001373076.1:p.Asn1165Lys, NP_001373078.1:p.Asn1150Lys, NP_001373081.1:p.Asn1231Lys, NP_001373079.1:p.Asn1150Lys, NP_001373090.1:p.Asn1190Lys, NP_001373080.1:p.Asn1117Lys, NP_001373082.1:p.Asn1150Lys, NP_001373083.1:p.Asn1145Lys, NP_001373085.1:p.Asn1125Lys, NP_001373091.1:p.Asn1150Lys, NP_001373086.1:p.Asn1084Lys, NP_001373087.1:p.Asn1051Lys, NP_001373096.1:p.Asn12Lys

      3.

      rs1488355875 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C,T [Show Flanks]
        Chromosome:
        4:113365122 (GRCh38)
        4:114286278 (GRCh37)
        Canonical SPDI:
        NC_000004.12:113365121:G:A,NC_000004.12:113365121:G:C,NC_000004.12:113365121:G:T
        Gene:
        ANK2 (Varview)
        Functional Consequence:
        missense_variant,stop_gained,coding_sequence_variant
        Validated:
        by frequency,by cluster
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        A=0.000035/1 (TOMMO)
        HGVS:
        NC_000004.12:g.113365122G>A, NC_000004.12:g.113365122G>C, NC_000004.12:g.113365122G>T, NC_000004.11:g.114286278G>A, NC_000004.11:g.114286278G>C, NC_000004.11:g.114286278G>T, NG_009006.2:g.552040G>A, NG_009006.2:g.552040G>C, NG_009006.2:g.552040G>T, NM_001148.6:c.10972G>A, NM_001148.6:c.10972G>C, NM_001148.6:c.10972G>T, NM_001148.5:c.10972G>A, NM_001148.5:c.10972G>C, NM_001148.5:c.10972G>T, NM_001148.4:c.10972G>A, NM_001148.4:c.10972G>C, NM_001148.4:c.10972G>T, NM_020977.5:c.4717G>A, NM_020977.5:c.4717G>C, NM_020977.5:c.4717G>T, NM_020977.4:c.4717G>A, NM_020977.4:c.4717G>C, NM_020977.4:c.4717G>T, NM_020977.3:c.4717G>A, NM_020977.3:c.4717G>C, NM_020977.3:c.4717G>T, NM_001127493.3:c.4690G>A, NM_001127493.3:c.4690G>C, NM_001127493.3:c.4690G>T, NM_001127493.2:c.4690G>A, NM_001127493.2:c.4690G>C, NM_001127493.2:c.4690G>T, NM_001127493.1:c.4690G>A, NM_001127493.1:c.4690G>C, NM_001127493.1:c.4690G>T, NM_001354269.3:c.4504G>A, NM_001354269.3:c.4504G>C, NM_001354269.3:c.4504G>T, NM_001354269.2:c.4504G>A, NM_001354269.2:c.4504G>C, NM_001354269.2:c.4504G>T, NM_001354269.1:c.4504G>A, NM_001354269.1:c.4504G>C, NM_001354269.1:c.4504G>T, NM_001354225.2:c.4729G>A, NM_001354225.2:c.4729G>C, NM_001354225.2:c.4729G>T, NM_001354225.1:c.4729G>A, NM_001354225.1:c.4729G>C, NM_001354225.1:c.4729G>T, NM_001354228.2:c.4618G>A, NM_001354228.2:c.4618G>C, NM_001354228.2:c.4618G>T, NM_001354228.1:c.4618G>A, NM_001354228.1:c.4618G>C, NM_001354228.1:c.4618G>T, NM_001354232.2:c.4753G>A, NM_001354232.2:c.4753G>C, NM_001354232.2:c.4753G>T, NM_001354232.1:c.4753G>A, NM_001354232.1:c.4753G>C, NM_001354232.1:c.4753G>T, NM_001354230.2:c.4696G>A, NM_001354230.2:c.4696G>C, NM_001354230.2:c.4696G>T, NM_001354230.1:c.4696G>A, NM_001354230.1:c.4696G>C, NM_001354230.1:c.4696G>T, NM_001354231.2:c.4759G>A, NM_001354231.2:c.4759G>C, NM_001354231.2:c.4759G>T, NM_001354231.1:c.4759G>A, NM_001354231.1:c.4759G>C, NM_001354231.1:c.4759G>T, NM_001354235.2:c.4714G>A, NM_001354235.2:c.4714G>C, NM_001354235.2:c.4714G>T, NM_001354235.1:c.4714G>A, NM_001354235.1:c.4714G>C, NM_001354235.1:c.4714G>T, NM_001354236.2:c.4615G>A, NM_001354236.2:c.4615G>C, NM_001354236.2:c.4615G>T, NM_001354236.1:c.4615G>A, NM_001354236.1:c.4615G>C, NM_001354236.1:c.4615G>T, NM_001354241.2:c.4762G>A, NM_001354241.2:c.4762G>C, NM_001354241.2:c.4762G>T, NM_001354241.1:c.4762G>A, NM_001354241.1:c.4762G>C, NM_001354241.1:c.4762G>T, NM_001354237.2:c.4795G>A, NM_001354237.2:c.4795G>C, NM_001354237.2:c.4795G>T, NM_001354237.1:c.4795G>A, NM_001354237.1:c.4795G>C, NM_001354237.1:c.4795G>T, NM_001354245.2:c.4555G>A, NM_001354245.2:c.4555G>C, NM_001354245.2:c.4555G>T, NM_001354245.1:c.4555G>A, NM_001354245.1:c.4555G>C, NM_001354245.1:c.4555G>T, NM_001354240.2:c.4762G>A, NM_001354240.2:c.4762G>C, NM_001354240.2:c.4762G>T, NM_001354240.1:c.4762G>A, NM_001354240.1:c.4762G>C, NM_001354240.1:c.4762G>T, NM_001354242.2:c.4759G>A, NM_001354242.2:c.4759G>C, NM_001354242.2:c.4759G>T, NM_001354242.1:c.4759G>A, NM_001354242.1:c.4759G>C, NM_001354242.1:c.4759G>T, NM_001354246.2:c.4714G>A, NM_001354246.2:c.4714G>C, NM_001354246.2:c.4714G>T, NM_001354246.1:c.4714G>A, NM_001354246.1:c.4714G>C, NM_001354246.1:c.4714G>T, NM_001354239.2:c.4687G>A, NM_001354239.2:c.4687G>C, NM_001354239.2:c.4687G>T, NM_001354239.1:c.4687G>A, NM_001354239.1:c.4687G>C, NM_001354239.1:c.4687G>T, NM_001354243.2:c.4654G>A, NM_001354243.2:c.4654G>C, NM_001354243.2:c.4654G>T, NM_001354243.1:c.4654G>A, NM_001354243.1:c.4654G>C, NM_001354243.1:c.4654G>T, NM_001354244.2:c.4651G>A, NM_001354244.2:c.4651G>C, NM_001354244.2:c.4651G>T, NM_001354244.1:c.4651G>A, NM_001354244.1:c.4651G>C, NM_001354244.1:c.4651G>T, NM_001354258.2:c.4618G>A, NM_001354258.2:c.4618G>C, NM_001354258.2:c.4618G>T, NM_001354258.1:c.4618G>A, NM_001354258.1:c.4618G>C, NM_001354258.1:c.4618G>T, NM_001354249.2:c.4531G>A, NM_001354249.2:c.4531G>C, NM_001354249.2:c.4531G>T, NM_001354249.1:c.4531G>A, NM_001354249.1:c.4531G>C, NM_001354249.1:c.4531G>T, NM_001354252.2:c.4687G>A, NM_001354252.2:c.4687G>C, NM_001354252.2:c.4687G>T, NM_001354252.1:c.4687G>A, NM_001354252.1:c.4687G>C, NM_001354252.1:c.4687G>T, NM_001354253.2:c.4492G>A, NM_001354253.2:c.4492G>C, NM_001354253.2:c.4492G>T, NM_001354253.1:c.4492G>A, NM_001354253.1:c.4492G>C, NM_001354253.1:c.4492G>T, NM_001354254.2:c.4666G>A, NM_001354254.2:c.4666G>C, NM_001354254.2:c.4666G>T, NM_001354254.1:c.4666G>A, NM_001354254.1:c.4666G>C, NM_001354254.1:c.4666G>T, NM_001354265.2:c.4714G>A, NM_001354265.2:c.4714G>C, NM_001354265.2:c.4714G>T, NM_001354265.1:c.4714G>A, NM_001354265.1:c.4714G>C, NM_001354265.1:c.4714G>T, NM_001354255.2:c.4654G>A, NM_001354255.2:c.4654G>C, NM_001354255.2:c.4654G>T, NM_001354255.1:c.4654G>A, NM_001354255.1:c.4654G>C, NM_001354255.1:c.4654G>T, NM_001354256.2:c.4651G>A, NM_001354256.2:c.4651G>C, NM_001354256.2:c.4651G>T, NM_001354256.1:c.4651G>A, NM_001354256.1:c.4651G>C, NM_001354256.1:c.4651G>T, NM_001354257.2:c.4456G>A, NM_001354257.2:c.4456G>C, NM_001354257.2:c.4456G>T, NM_001354257.1:c.4456G>A, NM_001354257.1:c.4456G>C, NM_001354257.1:c.4456G>T, NM_001354268.2:c.4519G>A, NM_001354268.2:c.4519G>C, NM_001354268.2:c.4519G>T, NM_001354268.1:c.4519G>A, NM_001354268.1:c.4519G>C, NM_001354268.1:c.4519G>T, NM_001386186.2:c.4702G>A, NM_001386186.2:c.4702G>C, NM_001386186.2:c.4702G>T, NM_001386186.1:c.4702G>A, NM_001386186.1:c.4702G>C, NM_001386186.1:c.4702G>T, NM_001354260.2:c.4432G>A, NM_001354260.2:c.4432G>C, NM_001354260.2:c.4432G>T, NM_001354260.1:c.4432G>A, NM_001354260.1:c.4432G>C, NM_001354260.1:c.4432G>T, NM_001354261.2:c.4576G>A, NM_001354261.2:c.4576G>C, NM_001354261.2:c.4576G>T, NM_001354261.1:c.4576G>A, NM_001354261.1:c.4576G>C, NM_001354261.1:c.4576G>T, NM_001354262.2:c.4555G>A, NM_001354262.2:c.4555G>C, NM_001354262.2:c.4555G>T, NM_001354262.1:c.4555G>A, NM_001354262.1:c.4555G>C, NM_001354262.1:c.4555G>T, NM_001354264.2:c.4552G>A, NM_001354264.2:c.4552G>C, NM_001354264.2:c.4552G>T, NM_001354264.1:c.4552G>A, NM_001354264.1:c.4552G>C, NM_001354264.1:c.4552G>T, NM_001354273.2:c.4417G>A, NM_001354273.2:c.4417G>C, NM_001354273.2:c.4417G>T, NM_001354273.1:c.4417G>A, NM_001354273.1:c.4417G>C, NM_001354273.1:c.4417G>T, NM_001354266.2:c.4531G>A, NM_001354266.2:c.4531G>C, NM_001354266.2:c.4531G>T, NM_001354266.1:c.4531G>A, NM_001354266.1:c.4531G>C, NM_001354266.1:c.4531G>T, NM_001354267.2:c.4531G>A, NM_001354267.2:c.4531G>C, NM_001354267.2:c.4531G>T, NM_001354267.1:c.4531G>A, NM_001354267.1:c.4531G>C, NM_001354267.1:c.4531G>T, NM_001354270.2:c.4492G>A, NM_001354270.2:c.4492G>C, NM_001354270.2:c.4492G>T, NM_001354270.1:c.4492G>A, NM_001354270.1:c.4492G>C, NM_001354270.1:c.4492G>T, NM_001386148.2:c.4702G>A, NM_001386148.2:c.4702G>C, NM_001386148.2:c.4702G>T, NM_001386148.1:c.4702G>A, NM_001386148.1:c.4702G>C, NM_001386148.1:c.4702G>T, NM_001354272.2:c.4588G>A, NM_001354272.2:c.4588G>C, NM_001354272.2:c.4588G>T, NM_001354272.1:c.4588G>A, NM_001354272.1:c.4588G>C, NM_001354272.1:c.4588G>T, NM_001354271.2:c.4432G>A, NM_001354271.2:c.4432G>C, NM_001354271.2:c.4432G>T, NM_001354271.1:c.4432G>A, NM_001354271.1:c.4432G>C, NM_001354271.1:c.4432G>T, NM_001354274.2:c.4483G>A, NM_001354274.2:c.4483G>C, NM_001354274.2:c.4483G>T, NM_001354274.1:c.4483G>A, NM_001354274.1:c.4483G>C, NM_001354274.1:c.4483G>T, NM_001354275.2:c.4555G>A, NM_001354275.2:c.4555G>C, NM_001354275.2:c.4555G>T, NM_001354275.1:c.4555G>A, NM_001354275.1:c.4555G>C, NM_001354275.1:c.4555G>T, NM_001354276.2:c.4531G>A, NM_001354276.2:c.4531G>C, NM_001354276.2:c.4531G>T, NM_001354276.1:c.4531G>A, NM_001354276.1:c.4531G>C, NM_001354276.1:c.4531G>T, NM_001386187.2:c.4582G>A, NM_001386187.2:c.4582G>C, NM_001386187.2:c.4582G>T, NM_001386187.1:c.4582G>A, NM_001386187.1:c.4582G>C, NM_001386187.1:c.4582G>T, NM_001354277.2:c.4333G>A, NM_001354277.2:c.4333G>C, NM_001354277.2:c.4333G>T, NM_001354277.1:c.4333G>A, NM_001354277.1:c.4333G>C, NM_001354277.1:c.4333G>T, NM_001354278.2:c.2245G>A, NM_001354278.2:c.2245G>C, NM_001354278.2:c.2245G>T, NM_001354278.1:c.2245G>A, NM_001354278.1:c.2245G>C, NM_001354278.1:c.2245G>T, NM_001354279.2:c.2281G>A, NM_001354279.2:c.2281G>C, NM_001354279.2:c.2281G>T, NM_001354279.1:c.2281G>A, NM_001354279.1:c.2281G>C, NM_001354279.1:c.2281G>T, NM_001354280.2:c.2266G>A, NM_001354280.2:c.2266G>C, NM_001354280.2:c.2266G>T, NM_001354280.1:c.2266G>A, NM_001354280.1:c.2266G>C, NM_001354280.1:c.2266G>T, NM_001354281.2:c.2245G>A, NM_001354281.2:c.2245G>C, NM_001354281.2:c.2245G>T, NM_001354281.1:c.2245G>A, NM_001354281.1:c.2245G>C, NM_001354281.1:c.2245G>T, NM_001354282.2:c.2281G>A, NM_001354282.2:c.2281G>C, NM_001354282.2:c.2281G>T, NM_001354282.1:c.2281G>A, NM_001354282.1:c.2281G>C, NM_001354282.1:c.2281G>T, NM_001386174.1:c.11113G>A, NM_001386174.1:c.11113G>C, NM_001386174.1:c.11113G>T, NM_001386175.1:c.11089G>A, NM_001386175.1:c.11089G>C, NM_001386175.1:c.11089G>T, NM_001386142.1:c.10738G>A, NM_001386142.1:c.10738G>C, NM_001386142.1:c.10738G>T, NM_001386166.1:c.7372G>A, NM_001386166.1:c.7372G>C, NM_001386166.1:c.7372G>T, NM_001386144.1:c.4762G>A, NM_001386144.1:c.4762G>C, NM_001386144.1:c.4762G>T, NM_001386143.1:c.4654G>A, NM_001386143.1:c.4654G>C, NM_001386143.1:c.4654G>T, NM_001386146.1:c.4498G>A, NM_001386146.1:c.4498G>C, NM_001386146.1:c.4498G>T, NM_001386160.1:c.4561G>A, NM_001386160.1:c.4561G>C, NM_001386160.1:c.4561G>T, NM_001386147.1:c.4543G>A, NM_001386147.1:c.4543G>C, NM_001386147.1:c.4543G>T, NM_001386149.1:c.4498G>A, NM_001386149.1:c.4498G>C, NM_001386149.1:c.4498G>T, NM_001386152.1:c.4774G>A, NM_001386152.1:c.4774G>C, NM_001386152.1:c.4774G>T, NM_001386150.1:c.4498G>A, NM_001386150.1:c.4498G>C, NM_001386150.1:c.4498G>T, NM_001386161.1:c.4651G>A, NM_001386161.1:c.4651G>C, NM_001386161.1:c.4651G>T, NM_001386151.1:c.4432G>A, NM_001386151.1:c.4432G>C, NM_001386151.1:c.4432G>T, NM_001386153.1:c.4498G>A, NM_001386153.1:c.4498G>C, NM_001386153.1:c.4498G>T, NM_001386154.1:c.4483G>A, NM_001386154.1:c.4483G>C, NM_001386154.1:c.4483G>T, NM_001386156.1:c.4456G>A, NM_001386156.1:c.4456G>C, NM_001386156.1:c.4456G>T, NM_001386162.1:c.4531G>A, NM_001386162.1:c.4531G>C, NM_001386162.1:c.4531G>T, NM_001386157.1:c.4333G>A, NM_001386157.1:c.4333G>C, NM_001386157.1:c.4333G>T, NM_001386158.1:c.4234G>A, NM_001386158.1:c.4234G>C, NM_001386158.1:c.4234G>T, NM_001386167.1:c.1117G>A, NM_001386167.1:c.1117G>C, NM_001386167.1:c.1117G>T, NM_001386173.1:c.11011G>A, NM_001386173.1:c.11011G>C, NM_001386173.1:c.11011G>T, NP_001139.3:p.Glu3658Lys, NP_001139.3:p.Glu3658Gln, NP_001139.3:p.Glu3658Ter, NP_066187.2:p.Glu1573Lys, NP_066187.2:p.Glu1573Gln, NP_066187.2:p.Glu1573Ter, NP_001120965.1:p.Glu1564Lys, NP_001120965.1:p.Glu1564Gln, NP_001120965.1:p.Glu1564Ter, NP_001341198.1:p.Glu1502Lys, NP_001341198.1:p.Glu1502Gln, NP_001341198.1:p.Glu1502Ter, NP_001341154.1:p.Glu1577Lys, NP_001341154.1:p.Glu1577Gln, NP_001341154.1:p.Glu1577Ter, NP_001341157.1:p.Glu1540Lys, NP_001341157.1:p.Glu1540Gln, NP_001341157.1:p.Glu1540Ter, NP_001341161.1:p.Glu1585Lys, NP_001341161.1:p.Glu1585Gln, NP_001341161.1:p.Glu1585Ter, NP_001341159.1:p.Glu1566Lys, NP_001341159.1:p.Glu1566Gln, NP_001341159.1:p.Glu1566Ter, NP_001341160.1:p.Glu1587Lys, NP_001341160.1:p.Glu1587Gln, NP_001341160.1:p.Glu1587Ter, NP_001341164.1:p.Glu1572Lys, NP_001341164.1:p.Glu1572Gln, NP_001341164.1:p.Glu1572Ter, NP_001341165.1:p.Glu1539Lys, NP_001341165.1:p.Glu1539Gln, NP_001341165.1:p.Glu1539Ter, NP_001341170.1:p.Glu1588Lys, NP_001341170.1:p.Glu1588Gln, NP_001341170.1:p.Glu1588Ter, NP_001341166.1:p.Glu1599Lys, NP_001341166.1:p.Glu1599Gln, NP_001341166.1:p.Glu1599Ter, NP_001341174.1:p.Glu1519Lys, NP_001341174.1:p.Glu1519Gln, NP_001341174.1:p.Glu1519Ter, NP_001341169.1:p.Glu1588Lys, NP_001341169.1:p.Glu1588Gln, NP_001341169.1:p.Glu1588Ter, NP_001341171.1:p.Glu1587Lys, NP_001341171.1:p.Glu1587Gln, NP_001341171.1:p.Glu1587Ter, NP_001341175.1:p.Glu1572Lys, NP_001341175.1:p.Glu1572Gln, NP_001341175.1:p.Glu1572Ter, NP_001341168.1:p.Glu1563Lys, NP_001341168.1:p.Glu1563Gln, NP_001341168.1:p.Glu1563Ter, NP_001341172.1:p.Glu1552Lys, NP_001341172.1:p.Glu1552Gln, NP_001341172.1:p.Glu1552Ter, NP_001341173.1:p.Glu1551Lys, NP_001341173.1:p.Glu1551Gln, NP_001341173.1:p.Glu1551Ter, NP_001341187.1:p.Glu1540Lys, NP_001341187.1:p.Glu1540Gln, NP_001341187.1:p.Glu1540Ter, NP_001341178.1:p.Glu1511Lys, NP_001341178.1:p.Glu1511Gln, NP_001341178.1:p.Glu1511Ter, NP_001341181.1:p.Glu1563Lys, NP_001341181.1:p.Glu1563Gln, NP_001341181.1:p.Glu1563Ter, NP_001341182.1:p.Glu1498Lys, NP_001341182.1:p.Glu1498Gln, NP_001341182.1:p.Glu1498Ter, NP_001341183.1:p.Glu1556Lys, NP_001341183.1:p.Glu1556Gln, NP_001341183.1:p.Glu1556Ter, NP_001341194.1:p.Glu1572Lys, NP_001341194.1:p.Glu1572Gln, NP_001341194.1:p.Glu1572Ter, NP_001341184.1:p.Glu1552Lys, NP_001341184.1:p.Glu1552Gln, NP_001341184.1:p.Glu1552Ter, NP_001341185.1:p.Glu1551Lys, NP_001341185.1:p.Glu1551Gln, NP_001341185.1:p.Glu1551Ter, NP_001341186.1:p.Glu1486Lys, NP_001341186.1:p.Glu1486Gln, NP_001341186.1:p.Glu1486Ter, NP_001341197.1:p.Glu1507Lys, NP_001341197.1:p.Glu1507Gln, NP_001341197.1:p.Glu1507Ter, NP_001373115.1:p.Glu1568Lys, NP_001373115.1:p.Glu1568Gln, NP_001373115.1:p.Glu1568Ter, NP_001341189.1:p.Glu1478Lys, NP_001341189.1:p.Glu1478Gln, NP_001341189.1:p.Glu1478Ter, NP_001341190.1:p.Glu1526Lys, NP_001341190.1:p.Glu1526Gln, NP_001341190.1:p.Glu1526Ter, NP_001341191.1:p.Glu1519Lys, NP_001341191.1:p.Glu1519Gln, NP_001341191.1:p.Glu1519Ter, NP_001341193.1:p.Glu1518Lys, NP_001341193.1:p.Glu1518Gln, NP_001341193.1:p.Glu1518Ter, NP_001341202.1:p.Glu1473Lys, NP_001341202.1:p.Glu1473Gln, NP_001341202.1:p.Glu1473Ter, NP_001341195.1:p.Glu1511Lys, NP_001341195.1:p.Glu1511Gln, NP_001341195.1:p.Glu1511Ter, NP_001341196.1:p.Glu1511Lys, NP_001341196.1:p.Glu1511Gln, NP_001341196.1:p.Glu1511Ter, NP_001341199.1:p.Glu1498Lys, NP_001341199.1:p.Glu1498Gln, NP_001341199.1:p.Glu1498Ter, NP_001373077.1:p.Glu1568Lys, NP_001373077.1:p.Glu1568Gln, NP_001373077.1:p.Glu1568Ter, NP_001341201.1:p.Glu1530Lys, NP_001341201.1:p.Glu1530Gln, NP_001341201.1:p.Glu1530Ter, NP_001341200.1:p.Glu1478Lys, NP_001341200.1:p.Glu1478Gln, NP_001341200.1:p.Glu1478Ter, NP_001341203.1:p.Glu1495Lys, NP_001341203.1:p.Glu1495Gln, NP_001341203.1:p.Glu1495Ter, NP_001341204.1:p.Glu1519Lys, NP_001341204.1:p.Glu1519Gln, NP_001341204.1:p.Glu1519Ter, NP_001341205.1:p.Glu1511Lys, NP_001341205.1:p.Glu1511Gln, NP_001341205.1:p.Glu1511Ter, NP_001373116.1:p.Glu1528Lys, NP_001373116.1:p.Glu1528Gln, NP_001373116.1:p.Glu1528Ter, NP_001341206.1:p.Glu1445Lys, NP_001341206.1:p.Glu1445Gln, NP_001341206.1:p.Glu1445Ter, NP_001341207.1:p.Glu749Lys, NP_001341207.1:p.Glu749Gln, NP_001341207.1:p.Glu749Ter, NP_001341208.1:p.Glu761Lys, NP_001341208.1:p.Glu761Gln, NP_001341208.1:p.Glu761Ter, NP_001341209.1:p.Glu756Lys, NP_001341209.1:p.Glu756Gln, NP_001341209.1:p.Glu756Ter, NP_001341210.1:p.Glu749Lys, NP_001341210.1:p.Glu749Gln, NP_001341210.1:p.Glu749Ter, NP_001341211.1:p.Glu761Lys, NP_001341211.1:p.Glu761Gln, NP_001341211.1:p.Glu761Ter, NP_001373103.1:p.Glu3705Lys, NP_001373103.1:p.Glu3705Gln, NP_001373103.1:p.Glu3705Ter, NP_001373104.1:p.Glu3697Lys, NP_001373104.1:p.Glu3697Gln, NP_001373104.1:p.Glu3697Ter, NP_001373071.1:p.Glu3580Lys, NP_001373071.1:p.Glu3580Gln, NP_001373071.1:p.Glu3580Ter, NP_001373095.1:p.Glu2458Lys, NP_001373095.1:p.Glu2458Gln, NP_001373095.1:p.Glu2458Ter, NP_001373073.1:p.Glu1588Lys, NP_001373073.1:p.Glu1588Gln, NP_001373073.1:p.Glu1588Ter, NP_001373072.1:p.Glu1552Lys, NP_001373072.1:p.Glu1552Gln, NP_001373072.1:p.Glu1552Ter, NP_001373075.1:p.Glu1500Lys, NP_001373075.1:p.Glu1500Gln, NP_001373075.1:p.Glu1500Ter, NP_001373089.1:p.Glu1521Lys, NP_001373089.1:p.Glu1521Gln, NP_001373089.1:p.Glu1521Ter, NP_001373076.1:p.Glu1515Lys, NP_001373076.1:p.Glu1515Gln, NP_001373076.1:p.Glu1515Ter, NP_001373078.1:p.Glu1500Lys, NP_001373078.1:p.Glu1500Gln, NP_001373078.1:p.Glu1500Ter, NP_001373081.1:p.Glu1592Lys, NP_001373081.1:p.Glu1592Gln, NP_001373081.1:p.Glu1592Ter, NP_001373079.1:p.Glu1500Lys, NP_001373079.1:p.Glu1500Gln, NP_001373079.1:p.Glu1500Ter, NP_001373090.1:p.Glu1551Lys, NP_001373090.1:p.Glu1551Gln, NP_001373090.1:p.Glu1551Ter, NP_001373080.1:p.Glu1478Lys, NP_001373080.1:p.Glu1478Gln, NP_001373080.1:p.Glu1478Ter, NP_001373082.1:p.Glu1500Lys, NP_001373082.1:p.Glu1500Gln, NP_001373082.1:p.Glu1500Ter, NP_001373083.1:p.Glu1495Lys, NP_001373083.1:p.Glu1495Gln, NP_001373083.1:p.Glu1495Ter, NP_001373085.1:p.Glu1486Lys, NP_001373085.1:p.Glu1486Gln, NP_001373085.1:p.Glu1486Ter, NP_001373091.1:p.Glu1511Lys, NP_001373091.1:p.Glu1511Gln, NP_001373091.1:p.Glu1511Ter, NP_001373086.1:p.Glu1445Lys, NP_001373086.1:p.Glu1445Gln, NP_001373086.1:p.Glu1445Ter, NP_001373087.1:p.Glu1412Lys, NP_001373087.1:p.Glu1412Gln, NP_001373087.1:p.Glu1412Ter, NP_001373096.1:p.Glu373Lys, NP_001373096.1:p.Glu373Gln, NP_001373096.1:p.Glu373Ter

        4.

        rs1488217623 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          4:113311367 (GRCh38)
          4:114232523 (GRCh37)
          Canonical SPDI:
          NC_000004.12:113311366:G:A
          Gene:
          ANK2 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          NC_000004.12:g.113311367G>A, NC_000004.11:g.114232523G>A, NG_009006.2:g.498285G>A, NM_001148.6:c.2661G>A, NM_001148.5:c.2661G>A, NM_001148.4:c.2661G>A, NM_020977.5:c.2661G>A, NM_020977.4:c.2661G>A, NM_020977.3:c.2661G>A, NM_001127493.3:c.2598G>A, NM_001127493.2:c.2598G>A, NM_001127493.1:c.2598G>A, NM_001354269.3:c.2451G>A, NM_001354269.2:c.2451G>A, NM_001354269.1:c.2451G>A, NM_001354225.2:c.2661G>A, NM_001354225.1:c.2661G>A, NM_001354228.2:c.2661G>A, NM_001354228.1:c.2661G>A, NM_001354232.2:c.2661G>A, NM_001354232.1:c.2661G>A, NM_001354230.2:c.2706G>A, NM_001354230.1:c.2706G>A, NM_001354231.2:c.2706G>A, NM_001354231.1:c.2706G>A, NM_001354235.2:c.2661G>A, NM_001354235.1:c.2661G>A, NM_001354236.2:c.2661G>A, NM_001354236.1:c.2661G>A, NM_001354241.2:c.2706G>A, NM_001354241.1:c.2706G>A, NM_001354237.2:c.2706G>A, NM_001354237.1:c.2706G>A, NM_001354245.2:c.2562G>A, NM_001354245.1:c.2562G>A, NM_001354240.2:c.2706G>A, NM_001354240.1:c.2706G>A, NM_001354242.2:c.2706G>A, NM_001354242.1:c.2706G>A, NM_001354246.2:c.2661G>A, NM_001354246.1:c.2661G>A, NM_001354239.2:c.2598G>A, NM_001354239.1:c.2598G>A, NM_001354243.2:c.2598G>A, NM_001354243.1:c.2598G>A, NM_001354244.2:c.2598G>A, NM_001354244.1:c.2598G>A, NM_001354258.2:c.2661G>A, NM_001354258.1:c.2661G>A, NM_001354249.2:c.2574G>A, NM_001354249.1:c.2574G>A, NM_001354252.2:c.2598G>A, NM_001354252.1:c.2598G>A, NM_001354253.2:c.2499G>A, NM_001354253.1:c.2499G>A, NM_001354254.2:c.2598G>A, NM_001354254.1:c.2598G>A, NM_001354265.2:c.2661G>A, NM_001354265.1:c.2661G>A, NM_001354255.2:c.2598G>A, NM_001354255.1:c.2598G>A, NM_001354256.2:c.2598G>A, NM_001354256.1:c.2598G>A, NM_001354257.2:c.2499G>A, NM_001354257.1:c.2499G>A, NM_001354268.2:c.2562G>A, NM_001354268.1:c.2562G>A, NM_001386186.2:c.2649G>A, NM_001386186.1:c.2649G>A, NM_001354260.2:c.2475G>A, NM_001354260.1:c.2475G>A, NM_001354261.2:c.2619G>A, NM_001354261.1:c.2619G>A, NM_001354262.2:c.2598G>A, NM_001354262.1:c.2598G>A, NM_001354264.2:c.2574G>A, NM_001354264.1:c.2574G>A, NM_001354273.2:c.2463G>A, NM_001354273.1:c.2463G>A, NM_001354266.2:c.2574G>A, NM_001354266.1:c.2574G>A, NM_001354267.2:c.2574G>A, NM_001354267.1:c.2574G>A, NM_001354270.2:c.2499G>A, NM_001354270.1:c.2499G>A, NM_001386148.2:c.2649G>A, NM_001386148.1:c.2649G>A, NM_001354272.2:c.2598G>A, NM_001354272.1:c.2598G>A, NM_001354271.2:c.2475G>A, NM_001354271.1:c.2475G>A, NM_001354274.2:c.2574G>A, NM_001354274.1:c.2574G>A, NM_001354275.2:c.2598G>A, NM_001354275.1:c.2598G>A, NM_001354276.2:c.2574G>A, NM_001354276.1:c.2574G>A, NM_001386187.2:c.2625G>A, NM_001386187.1:c.2625G>A, NM_001354277.2:c.2376G>A, NM_001354277.1:c.2376G>A, NM_001354278.2:c.288G>A, NM_001354278.1:c.288G>A, NM_001354279.2:c.288G>A, NM_001354279.1:c.288G>A, NM_001354280.2:c.288G>A, NM_001354280.1:c.288G>A, NM_001354281.2:c.288G>A, NM_001354281.1:c.288G>A, NM_001354282.2:c.288G>A, NM_001354282.1:c.288G>A, NM_001386174.1:c.2766G>A, NM_001386175.1:c.2742G>A, NM_001386142.1:c.2574G>A, NM_001386144.1:c.2706G>A, NM_001386143.1:c.2598G>A, NM_001386146.1:c.2574G>A, NM_001386160.1:c.2619G>A, NM_001386147.1:c.2619G>A, NM_001386149.1:c.2574G>A, NM_001386152.1:c.2706G>A, NM_001386150.1:c.2574G>A, NM_001386161.1:c.2598G>A, NM_001386151.1:c.2475G>A, NM_001386153.1:c.2574G>A, NM_001386154.1:c.2574G>A, NM_001386156.1:c.2499G>A, NM_001386162.1:c.2574G>A, NM_001386157.1:c.2376G>A, NM_001386158.1:c.2277G>A, NM_001386173.1:c.2652G>A

          5.

          rs1487810767 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            4:113365057 (GRCh38)
            4:114286213 (GRCh37)
            Canonical SPDI:
            NC_000004.12:113365056:G:A,NC_000004.12:113365056:G:C
            Gene:
            ANK2 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000019/5 (TOPMED)
            HGVS:
            NC_000004.12:g.113365057G>A, NC_000004.12:g.113365057G>C, NC_000004.11:g.114286213G>A, NC_000004.11:g.114286213G>C, NG_009006.2:g.551975G>A, NG_009006.2:g.551975G>C, NM_001148.6:c.10907G>A, NM_001148.6:c.10907G>C, NM_001148.5:c.10907G>A, NM_001148.5:c.10907G>C, NM_001148.4:c.10907G>A, NM_001148.4:c.10907G>C, NM_020977.5:c.4652G>A, NM_020977.5:c.4652G>C, NM_020977.4:c.4652G>A, NM_020977.4:c.4652G>C, NM_020977.3:c.4652G>A, NM_020977.3:c.4652G>C, NM_001127493.3:c.4625G>A, NM_001127493.3:c.4625G>C, NM_001127493.2:c.4625G>A, NM_001127493.2:c.4625G>C, NM_001127493.1:c.4625G>A, NM_001127493.1:c.4625G>C, NM_001354269.3:c.4439G>A, NM_001354269.3:c.4439G>C, NM_001354269.2:c.4439G>A, NM_001354269.2:c.4439G>C, NM_001354269.1:c.4439G>A, NM_001354269.1:c.4439G>C, NM_001354225.2:c.4664G>A, NM_001354225.2:c.4664G>C, NM_001354225.1:c.4664G>A, NM_001354225.1:c.4664G>C, NM_001354228.2:c.4553G>A, NM_001354228.2:c.4553G>C, NM_001354228.1:c.4553G>A, NM_001354228.1:c.4553G>C, NM_001354232.2:c.4688G>A, NM_001354232.2:c.4688G>C, NM_001354232.1:c.4688G>A, NM_001354232.1:c.4688G>C, NM_001354230.2:c.4631G>A, NM_001354230.2:c.4631G>C, NM_001354230.1:c.4631G>A, NM_001354230.1:c.4631G>C, NM_001354231.2:c.4694G>A, NM_001354231.2:c.4694G>C, NM_001354231.1:c.4694G>A, NM_001354231.1:c.4694G>C, NM_001354235.2:c.4649G>A, NM_001354235.2:c.4649G>C, NM_001354235.1:c.4649G>A, NM_001354235.1:c.4649G>C, NM_001354236.2:c.4550G>A, NM_001354236.2:c.4550G>C, NM_001354236.1:c.4550G>A, NM_001354236.1:c.4550G>C, NM_001354241.2:c.4697G>A, NM_001354241.2:c.4697G>C, NM_001354241.1:c.4697G>A, NM_001354241.1:c.4697G>C, NM_001354237.2:c.4730G>A, NM_001354237.2:c.4730G>C, NM_001354237.1:c.4730G>A, NM_001354237.1:c.4730G>C, NM_001354245.2:c.4490G>A, NM_001354245.2:c.4490G>C, NM_001354245.1:c.4490G>A, NM_001354245.1:c.4490G>C, NM_001354240.2:c.4697G>A, NM_001354240.2:c.4697G>C, NM_001354240.1:c.4697G>A, NM_001354240.1:c.4697G>C, NM_001354242.2:c.4694G>A, NM_001354242.2:c.4694G>C, NM_001354242.1:c.4694G>A, NM_001354242.1:c.4694G>C, NM_001354246.2:c.4649G>A, NM_001354246.2:c.4649G>C, NM_001354246.1:c.4649G>A, NM_001354246.1:c.4649G>C, NM_001354239.2:c.4622G>A, NM_001354239.2:c.4622G>C, NM_001354239.1:c.4622G>A, NM_001354239.1:c.4622G>C, NM_001354243.2:c.4589G>A, NM_001354243.2:c.4589G>C, NM_001354243.1:c.4589G>A, NM_001354243.1:c.4589G>C, NM_001354244.2:c.4586G>A, NM_001354244.2:c.4586G>C, NM_001354244.1:c.4586G>A, NM_001354244.1:c.4586G>C, NM_001354258.2:c.4553G>A, NM_001354258.2:c.4553G>C, NM_001354258.1:c.4553G>A, NM_001354258.1:c.4553G>C, NM_001354249.2:c.4466G>A, NM_001354249.2:c.4466G>C, NM_001354249.1:c.4466G>A, NM_001354249.1:c.4466G>C, NM_001354252.2:c.4622G>A, NM_001354252.2:c.4622G>C, NM_001354252.1:c.4622G>A, NM_001354252.1:c.4622G>C, NM_001354253.2:c.4427G>A, NM_001354253.2:c.4427G>C, NM_001354253.1:c.4427G>A, NM_001354253.1:c.4427G>C, NM_001354254.2:c.4601G>A, NM_001354254.2:c.4601G>C, NM_001354254.1:c.4601G>A, NM_001354254.1:c.4601G>C, NM_001354265.2:c.4649G>A, NM_001354265.2:c.4649G>C, NM_001354265.1:c.4649G>A, NM_001354265.1:c.4649G>C, NM_001354255.2:c.4589G>A, NM_001354255.2:c.4589G>C, NM_001354255.1:c.4589G>A, NM_001354255.1:c.4589G>C, NM_001354256.2:c.4586G>A, NM_001354256.2:c.4586G>C, NM_001354256.1:c.4586G>A, NM_001354256.1:c.4586G>C, NM_001354257.2:c.4391G>A, NM_001354257.2:c.4391G>C, NM_001354257.1:c.4391G>A, NM_001354257.1:c.4391G>C, NM_001354268.2:c.4454G>A, NM_001354268.2:c.4454G>C, NM_001354268.1:c.4454G>A, NM_001354268.1:c.4454G>C, NM_001386186.2:c.4637G>A, NM_001386186.2:c.4637G>C, NM_001386186.1:c.4637G>A, NM_001386186.1:c.4637G>C, NM_001354260.2:c.4367G>A, NM_001354260.2:c.4367G>C, NM_001354260.1:c.4367G>A, NM_001354260.1:c.4367G>C, NM_001354261.2:c.4511G>A, NM_001354261.2:c.4511G>C, NM_001354261.1:c.4511G>A, NM_001354261.1:c.4511G>C, NM_001354262.2:c.4490G>A, NM_001354262.2:c.4490G>C, NM_001354262.1:c.4490G>A, NM_001354262.1:c.4490G>C, NM_001354264.2:c.4487G>A, NM_001354264.2:c.4487G>C, NM_001354264.1:c.4487G>A, NM_001354264.1:c.4487G>C, NM_001354273.2:c.4352G>A, NM_001354273.2:c.4352G>C, NM_001354273.1:c.4352G>A, NM_001354273.1:c.4352G>C, NM_001354266.2:c.4466G>A, NM_001354266.2:c.4466G>C, NM_001354266.1:c.4466G>A, NM_001354266.1:c.4466G>C, NM_001354267.2:c.4466G>A, NM_001354267.2:c.4466G>C, NM_001354267.1:c.4466G>A, NM_001354267.1:c.4466G>C, NM_001354270.2:c.4427G>A, NM_001354270.2:c.4427G>C, NM_001354270.1:c.4427G>A, NM_001354270.1:c.4427G>C, NM_001386148.2:c.4637G>A, NM_001386148.2:c.4637G>C, NM_001386148.1:c.4637G>A, NM_001386148.1:c.4637G>C, NM_001354272.2:c.4523G>A, NM_001354272.2:c.4523G>C, NM_001354272.1:c.4523G>A, NM_001354272.1:c.4523G>C, NM_001354271.2:c.4367G>A, NM_001354271.2:c.4367G>C, NM_001354271.1:c.4367G>A, NM_001354271.1:c.4367G>C, NM_001354274.2:c.4418G>A, NM_001354274.2:c.4418G>C, NM_001354274.1:c.4418G>A, NM_001354274.1:c.4418G>C, NM_001354275.2:c.4490G>A, NM_001354275.2:c.4490G>C, NM_001354275.1:c.4490G>A, NM_001354275.1:c.4490G>C, NM_001354276.2:c.4466G>A, NM_001354276.2:c.4466G>C, NM_001354276.1:c.4466G>A, NM_001354276.1:c.4466G>C, NM_001386187.2:c.4517G>A, NM_001386187.2:c.4517G>C, NM_001386187.1:c.4517G>A, NM_001386187.1:c.4517G>C, NM_001354277.2:c.4268G>A, NM_001354277.2:c.4268G>C, NM_001354277.1:c.4268G>A, NM_001354277.1:c.4268G>C, NM_001354278.2:c.2180G>A, NM_001354278.2:c.2180G>C, NM_001354278.1:c.2180G>A, NM_001354278.1:c.2180G>C, NM_001354279.2:c.2216G>A, NM_001354279.2:c.2216G>C, NM_001354279.1:c.2216G>A, NM_001354279.1:c.2216G>C, NM_001354280.2:c.2201G>A, NM_001354280.2:c.2201G>C, NM_001354280.1:c.2201G>A, NM_001354280.1:c.2201G>C, NM_001354281.2:c.2180G>A, NM_001354281.2:c.2180G>C, NM_001354281.1:c.2180G>A, NM_001354281.1:c.2180G>C, NM_001354282.2:c.2216G>A, NM_001354282.2:c.2216G>C, NM_001354282.1:c.2216G>A, NM_001354282.1:c.2216G>C, NM_001386174.1:c.11048G>A, NM_001386174.1:c.11048G>C, NM_001386175.1:c.11024G>A, NM_001386175.1:c.11024G>C, NM_001386142.1:c.10673G>A, NM_001386142.1:c.10673G>C, NM_001386166.1:c.7307G>A, NM_001386166.1:c.7307G>C, NM_001386144.1:c.4697G>A, NM_001386144.1:c.4697G>C, NM_001386143.1:c.4589G>A, NM_001386143.1:c.4589G>C, NM_001386146.1:c.4433G>A, NM_001386146.1:c.4433G>C, NM_001386160.1:c.4496G>A, NM_001386160.1:c.4496G>C, NM_001386147.1:c.4478G>A, NM_001386147.1:c.4478G>C, NM_001386149.1:c.4433G>A, NM_001386149.1:c.4433G>C, NM_001386152.1:c.4709G>A, NM_001386152.1:c.4709G>C, NM_001386150.1:c.4433G>A, NM_001386150.1:c.4433G>C, NM_001386161.1:c.4586G>A, NM_001386161.1:c.4586G>C, NM_001386151.1:c.4367G>A, NM_001386151.1:c.4367G>C, NM_001386153.1:c.4433G>A, NM_001386153.1:c.4433G>C, NM_001386154.1:c.4418G>A, NM_001386154.1:c.4418G>C, NM_001386156.1:c.4391G>A, NM_001386156.1:c.4391G>C, NM_001386162.1:c.4466G>A, NM_001386162.1:c.4466G>C, NM_001386157.1:c.4268G>A, NM_001386157.1:c.4268G>C, NM_001386158.1:c.4169G>A, NM_001386158.1:c.4169G>C, NM_001386167.1:c.1052G>A, NM_001386167.1:c.1052G>C, NM_001386173.1:c.10946G>A, NM_001386173.1:c.10946G>C, NP_001139.3:p.Cys3636Tyr, NP_001139.3:p.Cys3636Ser, NP_066187.2:p.Cys1551Tyr, NP_066187.2:p.Cys1551Ser, NP_001120965.1:p.Cys1542Tyr, NP_001120965.1:p.Cys1542Ser, NP_001341198.1:p.Cys1480Tyr, NP_001341198.1:p.Cys1480Ser, NP_001341154.1:p.Cys1555Tyr, NP_001341154.1:p.Cys1555Ser, NP_001341157.1:p.Cys1518Tyr, NP_001341157.1:p.Cys1518Ser, NP_001341161.1:p.Cys1563Tyr, NP_001341161.1:p.Cys1563Ser, NP_001341159.1:p.Cys1544Tyr, NP_001341159.1:p.Cys1544Ser, NP_001341160.1:p.Cys1565Tyr, NP_001341160.1:p.Cys1565Ser, NP_001341164.1:p.Cys1550Tyr, NP_001341164.1:p.Cys1550Ser, NP_001341165.1:p.Cys1517Tyr, NP_001341165.1:p.Cys1517Ser, NP_001341170.1:p.Cys1566Tyr, NP_001341170.1:p.Cys1566Ser, NP_001341166.1:p.Cys1577Tyr, NP_001341166.1:p.Cys1577Ser, NP_001341174.1:p.Cys1497Tyr, NP_001341174.1:p.Cys1497Ser, NP_001341169.1:p.Cys1566Tyr, NP_001341169.1:p.Cys1566Ser, NP_001341171.1:p.Cys1565Tyr, NP_001341171.1:p.Cys1565Ser, NP_001341175.1:p.Cys1550Tyr, NP_001341175.1:p.Cys1550Ser, NP_001341168.1:p.Cys1541Tyr, NP_001341168.1:p.Cys1541Ser, NP_001341172.1:p.Cys1530Tyr, NP_001341172.1:p.Cys1530Ser, NP_001341173.1:p.Cys1529Tyr, NP_001341173.1:p.Cys1529Ser, NP_001341187.1:p.Cys1518Tyr, NP_001341187.1:p.Cys1518Ser, NP_001341178.1:p.Cys1489Tyr, NP_001341178.1:p.Cys1489Ser, NP_001341181.1:p.Cys1541Tyr, NP_001341181.1:p.Cys1541Ser, NP_001341182.1:p.Cys1476Tyr, NP_001341182.1:p.Cys1476Ser, NP_001341183.1:p.Cys1534Tyr, NP_001341183.1:p.Cys1534Ser, NP_001341194.1:p.Cys1550Tyr, NP_001341194.1:p.Cys1550Ser, NP_001341184.1:p.Cys1530Tyr, NP_001341184.1:p.Cys1530Ser, NP_001341185.1:p.Cys1529Tyr, NP_001341185.1:p.Cys1529Ser, NP_001341186.1:p.Cys1464Tyr, NP_001341186.1:p.Cys1464Ser, NP_001341197.1:p.Cys1485Tyr, NP_001341197.1:p.Cys1485Ser, NP_001373115.1:p.Cys1546Tyr, NP_001373115.1:p.Cys1546Ser, NP_001341189.1:p.Cys1456Tyr, NP_001341189.1:p.Cys1456Ser, NP_001341190.1:p.Cys1504Tyr, NP_001341190.1:p.Cys1504Ser, NP_001341191.1:p.Cys1497Tyr, NP_001341191.1:p.Cys1497Ser, NP_001341193.1:p.Cys1496Tyr, NP_001341193.1:p.Cys1496Ser, NP_001341202.1:p.Cys1451Tyr, NP_001341202.1:p.Cys1451Ser, NP_001341195.1:p.Cys1489Tyr, NP_001341195.1:p.Cys1489Ser, NP_001341196.1:p.Cys1489Tyr, NP_001341196.1:p.Cys1489Ser, NP_001341199.1:p.Cys1476Tyr, NP_001341199.1:p.Cys1476Ser, NP_001373077.1:p.Cys1546Tyr, NP_001373077.1:p.Cys1546Ser, NP_001341201.1:p.Cys1508Tyr, NP_001341201.1:p.Cys1508Ser, NP_001341200.1:p.Cys1456Tyr, NP_001341200.1:p.Cys1456Ser, NP_001341203.1:p.Cys1473Tyr, NP_001341203.1:p.Cys1473Ser, NP_001341204.1:p.Cys1497Tyr, NP_001341204.1:p.Cys1497Ser, NP_001341205.1:p.Cys1489Tyr, NP_001341205.1:p.Cys1489Ser, NP_001373116.1:p.Cys1506Tyr, NP_001373116.1:p.Cys1506Ser, NP_001341206.1:p.Cys1423Tyr, NP_001341206.1:p.Cys1423Ser, NP_001341207.1:p.Cys727Tyr, NP_001341207.1:p.Cys727Ser, NP_001341208.1:p.Cys739Tyr, NP_001341208.1:p.Cys739Ser, NP_001341209.1:p.Cys734Tyr, NP_001341209.1:p.Cys734Ser, NP_001341210.1:p.Cys727Tyr, NP_001341210.1:p.Cys727Ser, NP_001341211.1:p.Cys739Tyr, NP_001341211.1:p.Cys739Ser, NP_001373103.1:p.Cys3683Tyr, NP_001373103.1:p.Cys3683Ser, NP_001373104.1:p.Cys3675Tyr, NP_001373104.1:p.Cys3675Ser, NP_001373071.1:p.Cys3558Tyr, NP_001373071.1:p.Cys3558Ser, NP_001373095.1:p.Cys2436Tyr, NP_001373095.1:p.Cys2436Ser, NP_001373073.1:p.Cys1566Tyr, NP_001373073.1:p.Cys1566Ser, NP_001373072.1:p.Cys1530Tyr, NP_001373072.1:p.Cys1530Ser, NP_001373075.1:p.Cys1478Tyr, NP_001373075.1:p.Cys1478Ser, NP_001373089.1:p.Cys1499Tyr, NP_001373089.1:p.Cys1499Ser, NP_001373076.1:p.Cys1493Tyr, NP_001373076.1:p.Cys1493Ser, NP_001373078.1:p.Cys1478Tyr, NP_001373078.1:p.Cys1478Ser, NP_001373081.1:p.Cys1570Tyr, NP_001373081.1:p.Cys1570Ser, NP_001373079.1:p.Cys1478Tyr, NP_001373079.1:p.Cys1478Ser, NP_001373090.1:p.Cys1529Tyr, NP_001373090.1:p.Cys1529Ser, NP_001373080.1:p.Cys1456Tyr, NP_001373080.1:p.Cys1456Ser, NP_001373082.1:p.Cys1478Tyr, NP_001373082.1:p.Cys1478Ser, NP_001373083.1:p.Cys1473Tyr, NP_001373083.1:p.Cys1473Ser, NP_001373085.1:p.Cys1464Tyr, NP_001373085.1:p.Cys1464Ser, NP_001373091.1:p.Cys1489Tyr, NP_001373091.1:p.Cys1489Ser, NP_001373086.1:p.Cys1423Tyr, NP_001373086.1:p.Cys1423Ser, NP_001373087.1:p.Cys1390Tyr, NP_001373087.1:p.Cys1390Ser, NP_001373096.1:p.Cys351Tyr, NP_001373096.1:p.Cys351Ser

            6.

            rs1487758535 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              4:113330435 (GRCh38)
              4:114251591 (GRCh37)
              Canonical SPDI:
              NC_000004.12:113330434:G:A,NC_000004.12:113330434:G:T
              Gene:
              ANK2 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
              Clinical significance:
              likely-benign
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000071/1 (ALFA)
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000004.12:g.113330435G>A, NC_000004.12:g.113330435G>T, NC_000004.11:g.114251591G>A, NC_000004.11:g.114251591G>T, NG_009006.2:g.517353G>A, NG_009006.2:g.517353G>T, NM_001148.6:c.3090G>A, NM_001148.6:c.3090G>T, NM_001148.5:c.3090G>A, NM_001148.5:c.3090G>T, NM_001148.4:c.3090G>A, NM_001148.4:c.3090G>T, NM_020977.5:c.3090G>A, NM_020977.5:c.3090G>T, NM_020977.4:c.3090G>A, NM_020977.4:c.3090G>T, NM_020977.3:c.3090G>A, NM_020977.3:c.3090G>T, NM_001127493.3:c.3063G>A, NM_001127493.3:c.3063G>T, NM_001127493.2:c.3063G>A, NM_001127493.2:c.3063G>T, NM_001127493.1:c.3063G>A, NM_001127493.1:c.3063G>T, NM_001354269.3:c.2877G>A, NM_001354269.3:c.2877G>T, NM_001354269.2:c.2877G>A, NM_001354269.2:c.2877G>T, NM_001354269.1:c.2877G>A, NM_001354269.1:c.2877G>T, NM_001354225.2:c.3102G>A, NM_001354225.2:c.3102G>T, NM_001354225.1:c.3102G>A, NM_001354225.1:c.3102G>T, NM_001354228.2:c.3090G>A, NM_001354228.2:c.3090G>T, NM_001354228.1:c.3090G>A, NM_001354228.1:c.3090G>T, NM_001354232.2:c.3126G>A, NM_001354232.2:c.3126G>T, NM_001354232.1:c.3126G>A, NM_001354232.1:c.3126G>T, NM_001354230.2:c.3168G>A, NM_001354230.2:c.3168G>T, NM_001354230.1:c.3168G>A, NM_001354230.1:c.3168G>T, NM_001354231.2:c.3132G>A, NM_001354231.2:c.3132G>T, NM_001354231.1:c.3132G>A, NM_001354231.1:c.3132G>T, NM_001354235.2:c.3087G>A, NM_001354235.2:c.3087G>T, NM_001354235.1:c.3087G>A, NM_001354235.1:c.3087G>T, NM_001354236.2:c.3087G>A, NM_001354236.2:c.3087G>T, NM_001354236.1:c.3087G>A, NM_001354236.1:c.3087G>T, NM_001354241.2:c.3135G>A, NM_001354241.2:c.3135G>T, NM_001354241.1:c.3135G>A, NM_001354241.1:c.3135G>T, NM_001354237.2:c.3168G>A, NM_001354237.2:c.3168G>T, NM_001354237.1:c.3168G>A, NM_001354237.1:c.3168G>T, NM_001354245.2:c.3027G>A, NM_001354245.2:c.3027G>T, NM_001354245.1:c.3027G>A, NM_001354245.1:c.3027G>T, NM_001354240.2:c.3135G>A, NM_001354240.2:c.3135G>T, NM_001354240.1:c.3135G>A, NM_001354240.1:c.3135G>T, NM_001354242.2:c.3132G>A, NM_001354242.2:c.3132G>T, NM_001354242.1:c.3132G>A, NM_001354242.1:c.3132G>T, NM_001354246.2:c.3087G>A, NM_001354246.2:c.3087G>T, NM_001354246.1:c.3087G>A, NM_001354246.1:c.3087G>T, NM_001354239.2:c.3060G>A, NM_001354239.2:c.3060G>T, NM_001354239.1:c.3060G>A, NM_001354239.1:c.3060G>T, NM_001354243.2:c.3027G>A, NM_001354243.2:c.3027G>T, NM_001354243.1:c.3027G>A, NM_001354243.1:c.3027G>T, NM_001354244.2:c.3024G>A, NM_001354244.2:c.3024G>T, NM_001354244.1:c.3024G>A, NM_001354244.1:c.3024G>T, NM_001354258.2:c.3090G>A, NM_001354258.2:c.3090G>T, NM_001354258.1:c.3090G>A, NM_001354258.1:c.3090G>T, NM_001354249.2:c.3003G>A, NM_001354249.2:c.3003G>T, NM_001354249.1:c.3003G>A, NM_001354249.1:c.3003G>T, NM_001354252.2:c.3060G>A, NM_001354252.2:c.3060G>T, NM_001354252.1:c.3060G>A, NM_001354252.1:c.3060G>T, NM_001354253.2:c.2964G>A, NM_001354253.2:c.2964G>T, NM_001354253.1:c.2964G>A, NM_001354253.1:c.2964G>T, NM_001354254.2:c.3039G>A, NM_001354254.2:c.3039G>T, NM_001354254.1:c.3039G>A, NM_001354254.1:c.3039G>T, NM_001354265.2:c.3087G>A, NM_001354265.2:c.3087G>T, NM_001354265.1:c.3087G>A, NM_001354265.1:c.3087G>T, NM_001354255.2:c.3027G>A, NM_001354255.2:c.3027G>T, NM_001354255.1:c.3027G>A, NM_001354255.1:c.3027G>T, NM_001354256.2:c.3024G>A, NM_001354256.2:c.3024G>T, NM_001354256.1:c.3024G>A, NM_001354256.1:c.3024G>T, NM_001354257.2:c.2928G>A, NM_001354257.2:c.2928G>T, NM_001354257.1:c.2928G>A, NM_001354257.1:c.2928G>T, NM_001354268.2:c.2991G>A, NM_001354268.2:c.2991G>T, NM_001354268.1:c.2991G>A, NM_001354268.1:c.2991G>T, NM_001386186.2:c.3075G>A, NM_001386186.2:c.3075G>T, NM_001386186.1:c.3075G>A, NM_001386186.1:c.3075G>T, NM_001354260.2:c.2904G>A, NM_001354260.2:c.2904G>T, NM_001354260.1:c.2904G>A, NM_001354260.1:c.2904G>T, NM_001354261.2:c.3048G>A, NM_001354261.2:c.3048G>T, NM_001354261.1:c.3048G>A, NM_001354261.1:c.3048G>T, NM_001354262.2:c.3027G>A, NM_001354262.2:c.3027G>T, NM_001354262.1:c.3027G>A, NM_001354262.1:c.3027G>T, NM_001354264.2:c.3003G>A, NM_001354264.2:c.3003G>T, NM_001354264.1:c.3003G>A, NM_001354264.1:c.3003G>T, NM_001354273.2:c.2889G>A, NM_001354273.2:c.2889G>T, NM_001354273.1:c.2889G>A, NM_001354273.1:c.2889G>T, NM_001354266.2:c.3003G>A, NM_001354266.2:c.3003G>T, NM_001354266.1:c.3003G>A, NM_001354266.1:c.3003G>T, NM_001354267.2:c.3003G>A, NM_001354267.2:c.3003G>T, NM_001354267.1:c.3003G>A, NM_001354267.1:c.3003G>T, NM_001354270.2:c.2964G>A, NM_001354270.2:c.2964G>T, NM_001354270.1:c.2964G>A, NM_001354270.1:c.2964G>T, NM_001386148.2:c.3075G>A, NM_001386148.2:c.3075G>T, NM_001386148.1:c.3075G>A, NM_001386148.1:c.3075G>T, NM_001354272.2:c.3060G>A, NM_001354272.2:c.3060G>T, NM_001354272.1:c.3060G>A, NM_001354272.1:c.3060G>T, NM_001354271.2:c.2904G>A, NM_001354271.2:c.2904G>T, NM_001354271.1:c.2904G>A, NM_001354271.1:c.2904G>T, NM_001354274.2:c.2988G>A, NM_001354274.2:c.2988G>T, NM_001354274.1:c.2988G>A, NM_001354274.1:c.2988G>T, NM_001354275.2:c.3027G>A, NM_001354275.2:c.3027G>T, NM_001354275.1:c.3027G>A, NM_001354275.1:c.3027G>T, NM_001354276.2:c.3003G>A, NM_001354276.2:c.3003G>T, NM_001354276.1:c.3003G>A, NM_001354276.1:c.3003G>T, NM_001386187.2:c.3054G>A, NM_001386187.2:c.3054G>T, NM_001386187.1:c.3054G>A, NM_001386187.1:c.3054G>T, NM_001354277.2:c.2805G>A, NM_001354277.2:c.2805G>T, NM_001354277.1:c.2805G>A, NM_001354277.1:c.2805G>T, NM_001354278.2:c.717G>A, NM_001354278.2:c.717G>T, NM_001354278.1:c.717G>A, NM_001354278.1:c.717G>T, NM_001354279.2:c.753G>A, NM_001354279.2:c.753G>T, NM_001354279.1:c.753G>A, NM_001354279.1:c.753G>T, NM_001354280.2:c.717G>A, NM_001354280.2:c.717G>T, NM_001354280.1:c.717G>A, NM_001354280.1:c.717G>T, NM_001354281.2:c.717G>A, NM_001354281.2:c.717G>T, NM_001354281.1:c.717G>A, NM_001354281.1:c.717G>T, NM_001354282.2:c.753G>A, NM_001354282.2:c.753G>T, NM_001354282.1:c.753G>A, NM_001354282.1:c.753G>T, NM_001386174.1:c.3231G>A, NM_001386174.1:c.3231G>T, NM_001386175.1:c.3207G>A, NM_001386175.1:c.3207G>T, NM_001386142.1:c.2988G>A, NM_001386142.1:c.2988G>T, NM_001386144.1:c.3135G>A, NM_001386144.1:c.3135G>T, NM_001386143.1:c.3027G>A, NM_001386143.1:c.3027G>T, NM_001386146.1:c.3003G>A, NM_001386146.1:c.3003G>T, NM_001386160.1:c.3033G>A, NM_001386160.1:c.3033G>T, NM_001386147.1:c.3048G>A, NM_001386147.1:c.3048G>T, NM_001386149.1:c.3003G>A, NM_001386149.1:c.3003G>T, NM_001386152.1:c.3147G>A, NM_001386152.1:c.3147G>T, NM_001386150.1:c.3003G>A, NM_001386150.1:c.3003G>T, NM_001386161.1:c.3024G>A, NM_001386161.1:c.3024G>T, NM_001386151.1:c.2904G>A, NM_001386151.1:c.2904G>T, NM_001386153.1:c.3003G>A, NM_001386153.1:c.3003G>T, NM_001386154.1:c.2988G>A, NM_001386154.1:c.2988G>T, NM_001386156.1:c.2928G>A, NM_001386156.1:c.2928G>T, NM_001386162.1:c.3003G>A, NM_001386162.1:c.3003G>T, NM_001386157.1:c.2805G>A, NM_001386157.1:c.2805G>T, NM_001386158.1:c.2706G>A, NM_001386158.1:c.2706G>T, NM_001386173.1:c.3129G>A, NM_001386173.1:c.3129G>T

              7.

              rs1486240382 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                4:113335974 (GRCh38)
                4:114257130 (GRCh37)
                Canonical SPDI:
                NC_000004.12:113335973:G:A,NC_000004.12:113335973:G:C
                Gene:
                ANK2 (Varview)
                Functional Consequence:
                missense_variant,5_prime_UTR_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                A=0.000008/2 (TOPMED)
                A=0.000014/2 (GnomAD)
                HGVS:
                NC_000004.12:g.113335974G>A, NC_000004.12:g.113335974G>C, NC_000004.11:g.114257130G>A, NC_000004.11:g.114257130G>C, NG_009006.2:g.522892G>A, NG_009006.2:g.522892G>C, NM_001148.6:c.3508G>A, NM_001148.6:c.3508G>C, NM_001148.5:c.3508G>A, NM_001148.5:c.3508G>C, NM_001148.4:c.3508G>A, NM_001148.4:c.3508G>C, NM_020977.5:c.3508G>A, NM_020977.5:c.3508G>C, NM_020977.4:c.3508G>A, NM_020977.4:c.3508G>C, NM_020977.3:c.3508G>A, NM_020977.3:c.3508G>C, NM_001127493.3:c.3481G>A, NM_001127493.3:c.3481G>C, NM_001127493.2:c.3481G>A, NM_001127493.2:c.3481G>C, NM_001127493.1:c.3481G>A, NM_001127493.1:c.3481G>C, NM_001354269.3:c.3295G>A, NM_001354269.3:c.3295G>C, NM_001354269.2:c.3295G>A, NM_001354269.2:c.3295G>C, NM_001354269.1:c.3295G>A, NM_001354269.1:c.3295G>C, NM_001354225.2:c.3520G>A, NM_001354225.2:c.3520G>C, NM_001354225.1:c.3520G>A, NM_001354225.1:c.3520G>C, NM_001354228.2:c.3409G>A, NM_001354228.2:c.3409G>C, NM_001354228.1:c.3409G>A, NM_001354228.1:c.3409G>C, NM_001354232.2:c.3544G>A, NM_001354232.2:c.3544G>C, NM_001354232.1:c.3544G>A, NM_001354232.1:c.3544G>C, NM_001354230.2:c.3487G>A, NM_001354230.2:c.3487G>C, NM_001354230.1:c.3487G>A, NM_001354230.1:c.3487G>C, NM_001354231.2:c.3550G>A, NM_001354231.2:c.3550G>C, NM_001354231.1:c.3550G>A, NM_001354231.1:c.3550G>C, NM_001354235.2:c.3505G>A, NM_001354235.2:c.3505G>C, NM_001354235.1:c.3505G>A, NM_001354235.1:c.3505G>C, NM_001354236.2:c.3406G>A, NM_001354236.2:c.3406G>C, NM_001354236.1:c.3406G>A, NM_001354236.1:c.3406G>C, NM_001354241.2:c.3553G>A, NM_001354241.2:c.3553G>C, NM_001354241.1:c.3553G>A, NM_001354241.1:c.3553G>C, NM_001354237.2:c.3586G>A, NM_001354237.2:c.3586G>C, NM_001354237.1:c.3586G>A, NM_001354237.1:c.3586G>C, NM_001354245.2:c.3346G>A, NM_001354245.2:c.3346G>C, NM_001354245.1:c.3346G>A, NM_001354245.1:c.3346G>C, NM_001354240.2:c.3553G>A, NM_001354240.2:c.3553G>C, NM_001354240.1:c.3553G>A, NM_001354240.1:c.3553G>C, NM_001354242.2:c.3550G>A, NM_001354242.2:c.3550G>C, NM_001354242.1:c.3550G>A, NM_001354242.1:c.3550G>C, NM_001354246.2:c.3505G>A, NM_001354246.2:c.3505G>C, NM_001354246.1:c.3505G>A, NM_001354246.1:c.3505G>C, NM_001354239.2:c.3478G>A, NM_001354239.2:c.3478G>C, NM_001354239.1:c.3478G>A, NM_001354239.1:c.3478G>C, NM_001354243.2:c.3445G>A, NM_001354243.2:c.3445G>C, NM_001354243.1:c.3445G>A, NM_001354243.1:c.3445G>C, NM_001354244.2:c.3442G>A, NM_001354244.2:c.3442G>C, NM_001354244.1:c.3442G>A, NM_001354244.1:c.3442G>C, NM_001354258.2:c.3409G>A, NM_001354258.2:c.3409G>C, NM_001354258.1:c.3409G>A, NM_001354258.1:c.3409G>C, NM_001354249.2:c.3322G>A, NM_001354249.2:c.3322G>C, NM_001354249.1:c.3322G>A, NM_001354249.1:c.3322G>C, NM_001354252.2:c.3478G>A, NM_001354252.2:c.3478G>C, NM_001354252.1:c.3478G>A, NM_001354252.1:c.3478G>C, NM_001354253.2:c.3283G>A, NM_001354253.2:c.3283G>C, NM_001354253.1:c.3283G>A, NM_001354253.1:c.3283G>C, NM_001354254.2:c.3457G>A, NM_001354254.2:c.3457G>C, NM_001354254.1:c.3457G>A, NM_001354254.1:c.3457G>C, NM_001354265.2:c.3505G>A, NM_001354265.2:c.3505G>C, NM_001354265.1:c.3505G>A, NM_001354265.1:c.3505G>C, NM_001354255.2:c.3445G>A, NM_001354255.2:c.3445G>C, NM_001354255.1:c.3445G>A, NM_001354255.1:c.3445G>C, NM_001354256.2:c.3442G>A, NM_001354256.2:c.3442G>C, NM_001354256.1:c.3442G>A, NM_001354256.1:c.3442G>C, NM_001354257.2:c.3247G>A, NM_001354257.2:c.3247G>C, NM_001354257.1:c.3247G>A, NM_001354257.1:c.3247G>C, NM_001354268.2:c.3310G>A, NM_001354268.2:c.3310G>C, NM_001354268.1:c.3310G>A, NM_001354268.1:c.3310G>C, NM_001386186.2:c.3493G>A, NM_001386186.2:c.3493G>C, NM_001386186.1:c.3493G>A, NM_001386186.1:c.3493G>C, NM_001354260.2:c.3223G>A, NM_001354260.2:c.3223G>C, NM_001354260.1:c.3223G>A, NM_001354260.1:c.3223G>C, NM_001354261.2:c.3367G>A, NM_001354261.2:c.3367G>C, NM_001354261.1:c.3367G>A, NM_001354261.1:c.3367G>C, NM_001354262.2:c.3346G>A, NM_001354262.2:c.3346G>C, NM_001354262.1:c.3346G>A, NM_001354262.1:c.3346G>C, NM_001354264.2:c.3343G>A, NM_001354264.2:c.3343G>C, NM_001354264.1:c.3343G>A, NM_001354264.1:c.3343G>C, NM_001354273.2:c.3208G>A, NM_001354273.2:c.3208G>C, NM_001354273.1:c.3208G>A, NM_001354273.1:c.3208G>C, NM_001354266.2:c.3322G>A, NM_001354266.2:c.3322G>C, NM_001354266.1:c.3322G>A, NM_001354266.1:c.3322G>C, NM_001354267.2:c.3322G>A, NM_001354267.2:c.3322G>C, NM_001354267.1:c.3322G>A, NM_001354267.1:c.3322G>C, NM_001354270.2:c.3283G>A, NM_001354270.2:c.3283G>C, NM_001354270.1:c.3283G>A, NM_001354270.1:c.3283G>C, NM_001386148.2:c.3493G>A, NM_001386148.2:c.3493G>C, NM_001386148.1:c.3493G>A, NM_001386148.1:c.3493G>C, NM_001354272.2:c.3379G>A, NM_001354272.2:c.3379G>C, NM_001354272.1:c.3379G>A, NM_001354272.1:c.3379G>C, NM_001354271.2:c.3223G>A, NM_001354271.2:c.3223G>C, NM_001354271.1:c.3223G>A, NM_001354271.1:c.3223G>C, NM_001354274.2:c.3307G>A, NM_001354274.2:c.3307G>C, NM_001354274.1:c.3307G>A, NM_001354274.1:c.3307G>C, NM_001354275.2:c.3346G>A, NM_001354275.2:c.3346G>C, NM_001354275.1:c.3346G>A, NM_001354275.1:c.3346G>C, NM_001354276.2:c.3322G>A, NM_001354276.2:c.3322G>C, NM_001354276.1:c.3322G>A, NM_001354276.1:c.3322G>C, NM_001386187.2:c.3373G>A, NM_001386187.2:c.3373G>C, NM_001386187.1:c.3373G>A, NM_001386187.1:c.3373G>C, NM_001354277.2:c.3124G>A, NM_001354277.2:c.3124G>C, NM_001354277.1:c.3124G>A, NM_001354277.1:c.3124G>C, NM_001354278.2:c.1036G>A, NM_001354278.2:c.1036G>C, NM_001354278.1:c.1036G>A, NM_001354278.1:c.1036G>C, NM_001354279.2:c.1072G>A, NM_001354279.2:c.1072G>C, NM_001354279.1:c.1072G>A, NM_001354279.1:c.1072G>C, NM_001354280.2:c.1057G>A, NM_001354280.2:c.1057G>C, NM_001354280.1:c.1057G>A, NM_001354280.1:c.1057G>C, NM_001354281.2:c.1036G>A, NM_001354281.2:c.1036G>C, NM_001354281.1:c.1036G>A, NM_001354281.1:c.1036G>C, NM_001354282.2:c.1072G>A, NM_001354282.2:c.1072G>C, NM_001354282.1:c.1072G>A, NM_001354282.1:c.1072G>C, NM_001386174.1:c.3649G>A, NM_001386174.1:c.3649G>C, NM_001386175.1:c.3625G>A, NM_001386175.1:c.3625G>C, NM_001386142.1:c.3307G>A, NM_001386142.1:c.3307G>C, NM_001386166.1:c.-93G>A, NM_001386166.1:c.-93G>C, NM_001386144.1:c.3553G>A, NM_001386144.1:c.3553G>C, NM_001386143.1:c.3445G>A, NM_001386143.1:c.3445G>C, NM_001386146.1:c.3322G>A, NM_001386146.1:c.3322G>C, NM_001386160.1:c.3352G>A, NM_001386160.1:c.3352G>C, NM_001386147.1:c.3367G>A, NM_001386147.1:c.3367G>C, NM_001386149.1:c.3322G>A, NM_001386149.1:c.3322G>C, NM_001386152.1:c.3565G>A, NM_001386152.1:c.3565G>C, NM_001386150.1:c.3322G>A, NM_001386150.1:c.3322G>C, NM_001386161.1:c.3442G>A, NM_001386161.1:c.3442G>C, NM_001386151.1:c.3223G>A, NM_001386151.1:c.3223G>C, NM_001386153.1:c.3322G>A, NM_001386153.1:c.3322G>C, NM_001386154.1:c.3307G>A, NM_001386154.1:c.3307G>C, NM_001386156.1:c.3247G>A, NM_001386156.1:c.3247G>C, NM_001386162.1:c.3322G>A, NM_001386162.1:c.3322G>C, NM_001386157.1:c.3124G>A, NM_001386157.1:c.3124G>C, NM_001386158.1:c.3025G>A, NM_001386158.1:c.3025G>C, NM_001386167.1:c.-93G>A, NM_001386167.1:c.-93G>C, NM_001386173.1:c.3547G>A, NM_001386173.1:c.3547G>C, NP_001139.3:p.Val1170Ile, NP_001139.3:p.Val1170Leu, NP_066187.2:p.Val1170Ile, NP_066187.2:p.Val1170Leu, NP_001120965.1:p.Val1161Ile, NP_001120965.1:p.Val1161Leu, NP_001341198.1:p.Val1099Ile, NP_001341198.1:p.Val1099Leu, NP_001341154.1:p.Val1174Ile, NP_001341154.1:p.Val1174Leu, NP_001341157.1:p.Val1137Ile, NP_001341157.1:p.Val1137Leu, NP_001341161.1:p.Val1182Ile, NP_001341161.1:p.Val1182Leu, NP_001341159.1:p.Val1163Ile, NP_001341159.1:p.Val1163Leu, NP_001341160.1:p.Val1184Ile, NP_001341160.1:p.Val1184Leu, NP_001341164.1:p.Val1169Ile, NP_001341164.1:p.Val1169Leu, NP_001341165.1:p.Val1136Ile, NP_001341165.1:p.Val1136Leu, NP_001341170.1:p.Val1185Ile, NP_001341170.1:p.Val1185Leu, NP_001341166.1:p.Val1196Ile, NP_001341166.1:p.Val1196Leu, NP_001341174.1:p.Val1116Ile, NP_001341174.1:p.Val1116Leu, NP_001341169.1:p.Val1185Ile, NP_001341169.1:p.Val1185Leu, NP_001341171.1:p.Val1184Ile, NP_001341171.1:p.Val1184Leu, NP_001341175.1:p.Val1169Ile, NP_001341175.1:p.Val1169Leu, NP_001341168.1:p.Val1160Ile, NP_001341168.1:p.Val1160Leu, NP_001341172.1:p.Val1149Ile, NP_001341172.1:p.Val1149Leu, NP_001341173.1:p.Val1148Ile, NP_001341173.1:p.Val1148Leu, NP_001341187.1:p.Val1137Ile, NP_001341187.1:p.Val1137Leu, NP_001341178.1:p.Val1108Ile, NP_001341178.1:p.Val1108Leu, NP_001341181.1:p.Val1160Ile, NP_001341181.1:p.Val1160Leu, NP_001341182.1:p.Val1095Ile, NP_001341182.1:p.Val1095Leu, NP_001341183.1:p.Val1153Ile, NP_001341183.1:p.Val1153Leu, NP_001341194.1:p.Val1169Ile, NP_001341194.1:p.Val1169Leu, NP_001341184.1:p.Val1149Ile, NP_001341184.1:p.Val1149Leu, NP_001341185.1:p.Val1148Ile, NP_001341185.1:p.Val1148Leu, NP_001341186.1:p.Val1083Ile, NP_001341186.1:p.Val1083Leu, NP_001341197.1:p.Val1104Ile, NP_001341197.1:p.Val1104Leu, NP_001373115.1:p.Val1165Ile, NP_001373115.1:p.Val1165Leu, NP_001341189.1:p.Val1075Ile, NP_001341189.1:p.Val1075Leu, NP_001341190.1:p.Val1123Ile, NP_001341190.1:p.Val1123Leu, NP_001341191.1:p.Val1116Ile, NP_001341191.1:p.Val1116Leu, NP_001341193.1:p.Val1115Ile, NP_001341193.1:p.Val1115Leu, NP_001341202.1:p.Val1070Ile, NP_001341202.1:p.Val1070Leu, NP_001341195.1:p.Val1108Ile, NP_001341195.1:p.Val1108Leu, NP_001341196.1:p.Val1108Ile, NP_001341196.1:p.Val1108Leu, NP_001341199.1:p.Val1095Ile, NP_001341199.1:p.Val1095Leu, NP_001373077.1:p.Val1165Ile, NP_001373077.1:p.Val1165Leu, NP_001341201.1:p.Val1127Ile, NP_001341201.1:p.Val1127Leu, NP_001341200.1:p.Val1075Ile, NP_001341200.1:p.Val1075Leu, NP_001341203.1:p.Val1103Ile, NP_001341203.1:p.Val1103Leu, NP_001341204.1:p.Val1116Ile, NP_001341204.1:p.Val1116Leu, NP_001341205.1:p.Val1108Ile, NP_001341205.1:p.Val1108Leu, NP_001373116.1:p.Val1125Ile, NP_001373116.1:p.Val1125Leu, NP_001341206.1:p.Val1042Ile, NP_001341206.1:p.Val1042Leu, NP_001341207.1:p.Val346Ile, NP_001341207.1:p.Val346Leu, NP_001341208.1:p.Val358Ile, NP_001341208.1:p.Val358Leu, NP_001341209.1:p.Val353Ile, NP_001341209.1:p.Val353Leu, NP_001341210.1:p.Val346Ile, NP_001341210.1:p.Val346Leu, NP_001341211.1:p.Val358Ile, NP_001341211.1:p.Val358Leu, NP_001373103.1:p.Val1217Ile, NP_001373103.1:p.Val1217Leu, NP_001373104.1:p.Val1209Ile, NP_001373104.1:p.Val1209Leu, NP_001373071.1:p.Val1103Ile, NP_001373071.1:p.Val1103Leu, NP_001373073.1:p.Val1185Ile, NP_001373073.1:p.Val1185Leu, NP_001373072.1:p.Val1149Ile, NP_001373072.1:p.Val1149Leu, NP_001373075.1:p.Val1108Ile, NP_001373075.1:p.Val1108Leu, NP_001373089.1:p.Val1118Ile, NP_001373089.1:p.Val1118Leu, NP_001373076.1:p.Val1123Ile, NP_001373076.1:p.Val1123Leu, NP_001373078.1:p.Val1108Ile, NP_001373078.1:p.Val1108Leu, NP_001373081.1:p.Val1189Ile, NP_001373081.1:p.Val1189Leu, NP_001373079.1:p.Val1108Ile, NP_001373079.1:p.Val1108Leu, NP_001373090.1:p.Val1148Ile, NP_001373090.1:p.Val1148Leu, NP_001373080.1:p.Val1075Ile, NP_001373080.1:p.Val1075Leu, NP_001373082.1:p.Val1108Ile, NP_001373082.1:p.Val1108Leu, NP_001373083.1:p.Val1103Ile, NP_001373083.1:p.Val1103Leu, NP_001373085.1:p.Val1083Ile, NP_001373085.1:p.Val1083Leu, NP_001373091.1:p.Val1108Ile, NP_001373091.1:p.Val1108Leu, NP_001373086.1:p.Val1042Ile, NP_001373086.1:p.Val1042Leu, NP_001373087.1:p.Val1009Ile, NP_001373087.1:p.Val1009Leu

                8.

                rs1486003496 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,T [Show Flanks]
                  Chromosome:
                  4:113369722 (GRCh38)
                  4:114290878 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:113369721:A:C,NC_000004.12:113369721:A:T
                  Gene:
                  ANK2 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,stop_gained
                  Validated:
                  by frequency,by cluster
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000004.12:g.113369722A>C, NC_000004.12:g.113369722A>T, NC_000004.11:g.114290878A>C, NC_000004.11:g.114290878A>T, NG_009006.2:g.556640A>C, NG_009006.2:g.556640A>T, NM_001148.6:c.11527A>C, NM_001148.6:c.11527A>T, NM_001148.5:c.11527A>C, NM_001148.5:c.11527A>T, NM_001148.4:c.11527A>C, NM_001148.4:c.11527A>T, NM_020977.5:c.5272A>C, NM_020977.5:c.5272A>T, NM_020977.4:c.5272A>C, NM_020977.4:c.5272A>T, NM_020977.3:c.5272A>C, NM_020977.3:c.5272A>T, NM_001127493.3:c.5245A>C, NM_001127493.3:c.5245A>T, NM_001127493.2:c.5245A>C, NM_001127493.2:c.5245A>T, NM_001127493.1:c.5245A>C, NM_001127493.1:c.5245A>T, NM_001354269.3:c.5059A>C, NM_001354269.3:c.5059A>T, NM_001354269.2:c.5059A>C, NM_001354269.2:c.5059A>T, NM_001354269.1:c.5059A>C, NM_001354269.1:c.5059A>T, NM_001354225.2:c.5284A>C, NM_001354225.2:c.5284A>T, NM_001354225.1:c.5284A>C, NM_001354225.1:c.5284A>T, NM_001354228.2:c.5173A>C, NM_001354228.2:c.5173A>T, NM_001354228.1:c.5173A>C, NM_001354228.1:c.5173A>T, NM_001354232.2:c.5308A>C, NM_001354232.2:c.5308A>T, NM_001354232.1:c.5308A>C, NM_001354232.1:c.5308A>T, NM_001354230.2:c.5251A>C, NM_001354230.2:c.5251A>T, NM_001354230.1:c.5251A>C, NM_001354230.1:c.5251A>T, NM_001354231.2:c.5314A>C, NM_001354231.2:c.5314A>T, NM_001354231.1:c.5314A>C, NM_001354231.1:c.5314A>T, NM_001354235.2:c.5269A>C, NM_001354235.2:c.5269A>T, NM_001354235.1:c.5269A>C, NM_001354235.1:c.5269A>T, NM_001354236.2:c.5170A>C, NM_001354236.2:c.5170A>T, NM_001354236.1:c.5170A>C, NM_001354236.1:c.5170A>T, NM_001354241.2:c.5317A>C, NM_001354241.2:c.5317A>T, NM_001354241.1:c.5317A>C, NM_001354241.1:c.5317A>T, NM_001354237.2:c.5350A>C, NM_001354237.2:c.5350A>T, NM_001354237.1:c.5350A>C, NM_001354237.1:c.5350A>T, NM_001354245.2:c.5110A>C, NM_001354245.2:c.5110A>T, NM_001354245.1:c.5110A>C, NM_001354245.1:c.5110A>T, NM_001354240.2:c.5317A>C, NM_001354240.2:c.5317A>T, NM_001354240.1:c.5317A>C, NM_001354240.1:c.5317A>T, NM_001354242.2:c.5314A>C, NM_001354242.2:c.5314A>T, NM_001354242.1:c.5314A>C, NM_001354242.1:c.5314A>T, NM_001354246.2:c.5269A>C, NM_001354246.2:c.5269A>T, NM_001354246.1:c.5269A>C, NM_001354246.1:c.5269A>T, NM_001354239.2:c.5242A>C, NM_001354239.2:c.5242A>T, NM_001354239.1:c.5242A>C, NM_001354239.1:c.5242A>T, NM_001354243.2:c.5209A>C, NM_001354243.2:c.5209A>T, NM_001354243.1:c.5209A>C, NM_001354243.1:c.5209A>T, NM_001354244.2:c.5206A>C, NM_001354244.2:c.5206A>T, NM_001354244.1:c.5206A>C, NM_001354244.1:c.5206A>T, NM_001354258.2:c.5173A>C, NM_001354258.2:c.5173A>T, NM_001354258.1:c.5173A>C, NM_001354258.1:c.5173A>T, NM_001354249.2:c.5086A>C, NM_001354249.2:c.5086A>T, NM_001354249.1:c.5086A>C, NM_001354249.1:c.5086A>T, NM_001354252.2:c.5242A>C, NM_001354252.2:c.5242A>T, NM_001354252.1:c.5242A>C, NM_001354252.1:c.5242A>T, NM_001354253.2:c.5047A>C, NM_001354253.2:c.5047A>T, NM_001354253.1:c.5047A>C, NM_001354253.1:c.5047A>T, NM_001354254.2:c.5221A>C, NM_001354254.2:c.5221A>T, NM_001354254.1:c.5221A>C, NM_001354254.1:c.5221A>T, NM_001354265.2:c.5269A>C, NM_001354265.2:c.5269A>T, NM_001354265.1:c.5269A>C, NM_001354265.1:c.5269A>T, NM_001354255.2:c.5209A>C, NM_001354255.2:c.5209A>T, NM_001354255.1:c.5209A>C, NM_001354255.1:c.5209A>T, NM_001354256.2:c.5206A>C, NM_001354256.2:c.5206A>T, NM_001354256.1:c.5206A>C, NM_001354256.1:c.5206A>T, NM_001354257.2:c.5011A>C, NM_001354257.2:c.5011A>T, NM_001354257.1:c.5011A>C, NM_001354257.1:c.5011A>T, NM_001354268.2:c.5074A>C, NM_001354268.2:c.5074A>T, NM_001354268.1:c.5074A>C, NM_001354268.1:c.5074A>T, NM_001386186.2:c.5257A>C, NM_001386186.2:c.5257A>T, NM_001386186.1:c.5257A>C, NM_001386186.1:c.5257A>T, NM_001354260.2:c.4987A>C, NM_001354260.2:c.4987A>T, NM_001354260.1:c.4987A>C, NM_001354260.1:c.4987A>T, NM_001354261.2:c.5131A>C, NM_001354261.2:c.5131A>T, NM_001354261.1:c.5131A>C, NM_001354261.1:c.5131A>T, NM_001354262.2:c.5110A>C, NM_001354262.2:c.5110A>T, NM_001354262.1:c.5110A>C, NM_001354262.1:c.5110A>T, NM_001354264.2:c.5107A>C, NM_001354264.2:c.5107A>T, NM_001354264.1:c.5107A>C, NM_001354264.1:c.5107A>T, NM_001354273.2:c.4972A>C, NM_001354273.2:c.4972A>T, NM_001354273.1:c.4972A>C, NM_001354273.1:c.4972A>T, NM_001354266.2:c.5086A>C, NM_001354266.2:c.5086A>T, NM_001354266.1:c.5086A>C, NM_001354266.1:c.5086A>T, NM_001354267.2:c.5086A>C, NM_001354267.2:c.5086A>T, NM_001354267.1:c.5086A>C, NM_001354267.1:c.5086A>T, NM_001354270.2:c.5047A>C, NM_001354270.2:c.5047A>T, NM_001354270.1:c.5047A>C, NM_001354270.1:c.5047A>T, NM_001386148.2:c.5257A>C, NM_001386148.2:c.5257A>T, NM_001386148.1:c.5257A>C, NM_001386148.1:c.5257A>T, NM_001354272.2:c.5143A>C, NM_001354272.2:c.5143A>T, NM_001354272.1:c.5143A>C, NM_001354272.1:c.5143A>T, NM_001354271.2:c.4987A>C, NM_001354271.2:c.4987A>T, NM_001354271.1:c.4987A>C, NM_001354271.1:c.4987A>T, NM_001354274.2:c.5038A>C, NM_001354274.2:c.5038A>T, NM_001354274.1:c.5038A>C, NM_001354274.1:c.5038A>T, NM_001354275.2:c.5110A>C, NM_001354275.2:c.5110A>T, NM_001354275.1:c.5110A>C, NM_001354275.1:c.5110A>T, NM_001354276.2:c.5086A>C, NM_001354276.2:c.5086A>T, NM_001354276.1:c.5086A>C, NM_001354276.1:c.5086A>T, NM_001386187.2:c.5137A>C, NM_001386187.2:c.5137A>T, NM_001386187.1:c.5137A>C, NM_001386187.1:c.5137A>T, NM_001354277.2:c.4888A>C, NM_001354277.2:c.4888A>T, NM_001354277.1:c.4888A>C, NM_001354277.1:c.4888A>T, NM_001354278.2:c.2800A>C, NM_001354278.2:c.2800A>T, NM_001354278.1:c.2800A>C, NM_001354278.1:c.2800A>T, NM_001354279.2:c.2836A>C, NM_001354279.2:c.2836A>T, NM_001354279.1:c.2836A>C, NM_001354279.1:c.2836A>T, NM_001354280.2:c.2821A>C, NM_001354280.2:c.2821A>T, NM_001354280.1:c.2821A>C, NM_001354280.1:c.2821A>T, NM_001354281.2:c.2800A>C, NM_001354281.2:c.2800A>T, NM_001354281.1:c.2800A>C, NM_001354281.1:c.2800A>T, NM_001354282.2:c.2836A>C, NM_001354282.2:c.2836A>T, NM_001354282.1:c.2836A>C, NM_001354282.1:c.2836A>T, NM_001386174.1:c.11668A>C, NM_001386174.1:c.11668A>T, NM_001386175.1:c.11644A>C, NM_001386175.1:c.11644A>T, NM_001386142.1:c.11293A>C, NM_001386142.1:c.11293A>T, NM_001386166.1:c.7927A>C, NM_001386166.1:c.7927A>T, NM_001386144.1:c.5317A>C, NM_001386144.1:c.5317A>T, NM_001386143.1:c.5209A>C, NM_001386143.1:c.5209A>T, NM_001386146.1:c.5053A>C, NM_001386146.1:c.5053A>T, NM_001386160.1:c.5116A>C, NM_001386160.1:c.5116A>T, NM_001386147.1:c.5098A>C, NM_001386147.1:c.5098A>T, NM_001386149.1:c.5053A>C, NM_001386149.1:c.5053A>T, NM_001386152.1:c.5329A>C, NM_001386152.1:c.5329A>T, NM_001386150.1:c.5053A>C, NM_001386150.1:c.5053A>T, NM_001386161.1:c.5206A>C, NM_001386161.1:c.5206A>T, NM_001386151.1:c.4987A>C, NM_001386151.1:c.4987A>T, NM_001386153.1:c.5053A>C, NM_001386153.1:c.5053A>T, NM_001386154.1:c.5038A>C, NM_001386154.1:c.5038A>T, NM_001386156.1:c.5011A>C, NM_001386156.1:c.5011A>T, NM_001386162.1:c.5086A>C, NM_001386162.1:c.5086A>T, NM_001386157.1:c.4888A>C, NM_001386157.1:c.4888A>T, NM_001386158.1:c.4789A>C, NM_001386158.1:c.4789A>T, NM_001386167.1:c.1672A>C, NM_001386167.1:c.1672A>T, NM_001386173.1:c.11566A>C, NM_001386173.1:c.11566A>T, NP_001139.3:p.Lys3843Gln, NP_001139.3:p.Lys3843Ter, NP_066187.2:p.Lys1758Gln, NP_066187.2:p.Lys1758Ter, NP_001120965.1:p.Lys1749Gln, NP_001120965.1:p.Lys1749Ter, NP_001341198.1:p.Lys1687Gln, NP_001341198.1:p.Lys1687Ter, NP_001341154.1:p.Lys1762Gln, NP_001341154.1:p.Lys1762Ter, NP_001341157.1:p.Lys1725Gln, NP_001341157.1:p.Lys1725Ter, NP_001341161.1:p.Lys1770Gln, NP_001341161.1:p.Lys1770Ter, NP_001341159.1:p.Lys1751Gln, NP_001341159.1:p.Lys1751Ter, NP_001341160.1:p.Lys1772Gln, NP_001341160.1:p.Lys1772Ter, NP_001341164.1:p.Lys1757Gln, NP_001341164.1:p.Lys1757Ter, NP_001341165.1:p.Lys1724Gln, NP_001341165.1:p.Lys1724Ter, NP_001341170.1:p.Lys1773Gln, NP_001341170.1:p.Lys1773Ter, NP_001341166.1:p.Lys1784Gln, NP_001341166.1:p.Lys1784Ter, NP_001341174.1:p.Lys1704Gln, NP_001341174.1:p.Lys1704Ter, NP_001341169.1:p.Lys1773Gln, NP_001341169.1:p.Lys1773Ter, NP_001341171.1:p.Lys1772Gln, NP_001341171.1:p.Lys1772Ter, NP_001341175.1:p.Lys1757Gln, NP_001341175.1:p.Lys1757Ter, NP_001341168.1:p.Lys1748Gln, NP_001341168.1:p.Lys1748Ter, NP_001341172.1:p.Lys1737Gln, NP_001341172.1:p.Lys1737Ter, NP_001341173.1:p.Lys1736Gln, NP_001341173.1:p.Lys1736Ter, NP_001341187.1:p.Lys1725Gln, NP_001341187.1:p.Lys1725Ter, NP_001341178.1:p.Lys1696Gln, NP_001341178.1:p.Lys1696Ter, NP_001341181.1:p.Lys1748Gln, NP_001341181.1:p.Lys1748Ter, NP_001341182.1:p.Lys1683Gln, NP_001341182.1:p.Lys1683Ter, NP_001341183.1:p.Lys1741Gln, NP_001341183.1:p.Lys1741Ter, NP_001341194.1:p.Lys1757Gln, NP_001341194.1:p.Lys1757Ter, NP_001341184.1:p.Lys1737Gln, NP_001341184.1:p.Lys1737Ter, NP_001341185.1:p.Lys1736Gln, NP_001341185.1:p.Lys1736Ter, NP_001341186.1:p.Lys1671Gln, NP_001341186.1:p.Lys1671Ter, NP_001341197.1:p.Lys1692Gln, NP_001341197.1:p.Lys1692Ter, NP_001373115.1:p.Lys1753Gln, NP_001373115.1:p.Lys1753Ter, NP_001341189.1:p.Lys1663Gln, NP_001341189.1:p.Lys1663Ter, NP_001341190.1:p.Lys1711Gln, NP_001341190.1:p.Lys1711Ter, NP_001341191.1:p.Lys1704Gln, NP_001341191.1:p.Lys1704Ter, NP_001341193.1:p.Lys1703Gln, NP_001341193.1:p.Lys1703Ter, NP_001341202.1:p.Lys1658Gln, NP_001341202.1:p.Lys1658Ter, NP_001341195.1:p.Lys1696Gln, NP_001341195.1:p.Lys1696Ter, NP_001341196.1:p.Lys1696Gln, NP_001341196.1:p.Lys1696Ter, NP_001341199.1:p.Lys1683Gln, NP_001341199.1:p.Lys1683Ter, NP_001373077.1:p.Lys1753Gln, NP_001373077.1:p.Lys1753Ter, NP_001341201.1:p.Lys1715Gln, NP_001341201.1:p.Lys1715Ter, NP_001341200.1:p.Lys1663Gln, NP_001341200.1:p.Lys1663Ter, NP_001341203.1:p.Lys1680Gln, NP_001341203.1:p.Lys1680Ter, NP_001341204.1:p.Lys1704Gln, NP_001341204.1:p.Lys1704Ter, NP_001341205.1:p.Lys1696Gln, NP_001341205.1:p.Lys1696Ter, NP_001373116.1:p.Lys1713Gln, NP_001373116.1:p.Lys1713Ter, NP_001341206.1:p.Lys1630Gln, NP_001341206.1:p.Lys1630Ter, NP_001341207.1:p.Lys934Gln, NP_001341207.1:p.Lys934Ter, NP_001341208.1:p.Lys946Gln, NP_001341208.1:p.Lys946Ter, NP_001341209.1:p.Lys941Gln, NP_001341209.1:p.Lys941Ter, NP_001341210.1:p.Lys934Gln, NP_001341210.1:p.Lys934Ter, NP_001341211.1:p.Lys946Gln, NP_001341211.1:p.Lys946Ter, NP_001373103.1:p.Lys3890Gln, NP_001373103.1:p.Lys3890Ter, NP_001373104.1:p.Lys3882Gln, NP_001373104.1:p.Lys3882Ter, NP_001373071.1:p.Lys3765Gln, NP_001373071.1:p.Lys3765Ter, NP_001373095.1:p.Lys2643Gln, NP_001373095.1:p.Lys2643Ter, NP_001373073.1:p.Lys1773Gln, NP_001373073.1:p.Lys1773Ter, NP_001373072.1:p.Lys1737Gln, NP_001373072.1:p.Lys1737Ter, NP_001373075.1:p.Lys1685Gln, NP_001373075.1:p.Lys1685Ter, NP_001373089.1:p.Lys1706Gln, NP_001373089.1:p.Lys1706Ter, NP_001373076.1:p.Lys1700Gln, NP_001373076.1:p.Lys1700Ter, NP_001373078.1:p.Lys1685Gln, NP_001373078.1:p.Lys1685Ter, NP_001373081.1:p.Lys1777Gln, NP_001373081.1:p.Lys1777Ter, NP_001373079.1:p.Lys1685Gln, NP_001373079.1:p.Lys1685Ter, NP_001373090.1:p.Lys1736Gln, NP_001373090.1:p.Lys1736Ter, NP_001373080.1:p.Lys1663Gln, NP_001373080.1:p.Lys1663Ter, NP_001373082.1:p.Lys1685Gln, NP_001373082.1:p.Lys1685Ter, NP_001373083.1:p.Lys1680Gln, NP_001373083.1:p.Lys1680Ter, NP_001373085.1:p.Lys1671Gln, NP_001373085.1:p.Lys1671Ter, NP_001373091.1:p.Lys1696Gln, NP_001373091.1:p.Lys1696Ter, NP_001373086.1:p.Lys1630Gln, NP_001373086.1:p.Lys1630Ter, NP_001373087.1:p.Lys1597Gln, NP_001373087.1:p.Lys1597Ter, NP_001373096.1:p.Lys558Gln, NP_001373096.1:p.Lys558Ter

                  9.

                  rs1485895597 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    4:113278507 (GRCh38)
                    4:114199663 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:113278506:G:A,NC_000004.12:113278506:G:C
                    Gene:
                    ANK2 (Varview)
                    Functional Consequence:
                    missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_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_000004.12:g.113278507G>A, NC_000004.12:g.113278507G>C, NC_000004.11:g.114199663G>A, NC_000004.11:g.114199663G>C, NG_009006.2:g.465425G>A, NG_009006.2:g.465425G>C, NM_001148.6:c.1830G>A, NM_001148.6:c.1830G>C, NM_001148.5:c.1830G>A, NM_001148.5:c.1830G>C, NM_001148.4:c.1830G>A, NM_001148.4:c.1830G>C, NM_020977.5:c.1830G>A, NM_020977.5:c.1830G>C, NM_020977.4:c.1830G>A, NM_020977.4:c.1830G>C, NM_020977.3:c.1830G>A, NM_020977.3:c.1830G>C, NM_001127493.3:c.1767G>A, NM_001127493.3:c.1767G>C, NM_001127493.2:c.1767G>A, NM_001127493.2:c.1767G>C, NM_001127493.1:c.1767G>A, NM_001127493.1:c.1767G>C, NM_001354269.3:c.1620G>A, NM_001354269.3:c.1620G>C, NM_001354269.2:c.1620G>A, NM_001354269.2:c.1620G>C, NM_001354269.1:c.1620G>A, NM_001354269.1:c.1620G>C, NM_001354225.2:c.1830G>A, NM_001354225.2:c.1830G>C, NM_001354225.1:c.1830G>A, NM_001354225.1:c.1830G>C, NM_001354228.2:c.1830G>A, NM_001354228.2:c.1830G>C, NM_001354228.1:c.1830G>A, NM_001354228.1:c.1830G>C, NM_001354232.2:c.1830G>A, NM_001354232.2:c.1830G>C, NM_001354232.1:c.1830G>A, NM_001354232.1:c.1830G>C, NM_001354230.2:c.1875G>A, NM_001354230.2:c.1875G>C, NM_001354230.1:c.1875G>A, NM_001354230.1:c.1875G>C, NM_001354231.2:c.1875G>A, NM_001354231.2:c.1875G>C, NM_001354231.1:c.1875G>A, NM_001354231.1:c.1875G>C, NM_001354235.2:c.1830G>A, NM_001354235.2:c.1830G>C, NM_001354235.1:c.1830G>A, NM_001354235.1:c.1830G>C, NM_001354236.2:c.1830G>A, NM_001354236.2:c.1830G>C, NM_001354236.1:c.1830G>A, NM_001354236.1:c.1830G>C, NM_001354241.2:c.1875G>A, NM_001354241.2:c.1875G>C, NM_001354241.1:c.1875G>A, NM_001354241.1:c.1875G>C, NM_001354237.2:c.1875G>A, NM_001354237.2:c.1875G>C, NM_001354237.1:c.1875G>A, NM_001354237.1:c.1875G>C, NM_001354240.2:c.1875G>A, NM_001354240.2:c.1875G>C, NM_001354240.1:c.1875G>A, NM_001354240.1:c.1875G>C, NM_001354242.2:c.1875G>A, NM_001354242.2:c.1875G>C, NM_001354242.1:c.1875G>A, NM_001354242.1:c.1875G>C, NM_001354246.2:c.1830G>A, NM_001354246.2:c.1830G>C, NM_001354246.1:c.1830G>A, NM_001354246.1:c.1830G>C, NM_001354239.2:c.1767G>A, NM_001354239.2:c.1767G>C, NM_001354239.1:c.1767G>A, NM_001354239.1:c.1767G>C, NM_001354243.2:c.1767G>A, NM_001354243.2:c.1767G>C, NM_001354243.1:c.1767G>A, NM_001354243.1:c.1767G>C, NM_001354244.2:c.1767G>A, NM_001354244.2:c.1767G>C, NM_001354244.1:c.1767G>A, NM_001354244.1:c.1767G>C, NM_001354258.2:c.1830G>A, NM_001354258.2:c.1830G>C, NM_001354258.1:c.1830G>A, NM_001354258.1:c.1830G>C, NM_001354249.2:c.1743G>A, NM_001354249.2:c.1743G>C, NM_001354249.1:c.1743G>A, NM_001354249.1:c.1743G>C, NM_001354252.2:c.1767G>A, NM_001354252.2:c.1767G>C, NM_001354252.1:c.1767G>A, NM_001354252.1:c.1767G>C, NM_001354254.2:c.1767G>A, NM_001354254.2:c.1767G>C, NM_001354254.1:c.1767G>A, NM_001354254.1:c.1767G>C, NM_001354265.2:c.1830G>A, NM_001354265.2:c.1830G>C, NM_001354265.1:c.1830G>A, NM_001354265.1:c.1830G>C, NM_001354255.2:c.1767G>A, NM_001354255.2:c.1767G>C, NM_001354255.1:c.1767G>A, NM_001354255.1:c.1767G>C, NM_001354256.2:c.1767G>A, NM_001354256.2:c.1767G>C, NM_001354256.1:c.1767G>A, NM_001354256.1:c.1767G>C, NM_001386186.2:c.1818G>A, NM_001386186.2:c.1818G>C, NM_001386186.1:c.1818G>A, NM_001386186.1:c.1818G>C, NM_001354261.2:c.1788G>A, NM_001354261.2:c.1788G>C, NM_001354261.1:c.1788G>A, NM_001354261.1:c.1788G>C, NM_001354262.2:c.1767G>A, NM_001354262.2:c.1767G>C, NM_001354262.1:c.1767G>A, NM_001354262.1:c.1767G>C, NM_001354264.2:c.1743G>A, NM_001354264.2:c.1743G>C, NM_001354264.1:c.1743G>A, NM_001354264.1:c.1743G>C, NM_001354273.2:c.1632G>A, NM_001354273.2:c.1632G>C, NM_001354273.1:c.1632G>A, NM_001354273.1:c.1632G>C, NM_001354266.2:c.1743G>A, NM_001354266.2:c.1743G>C, NM_001354266.1:c.1743G>A, NM_001354266.1:c.1743G>C, NM_001354267.2:c.1743G>A, NM_001354267.2:c.1743G>C, NM_001354267.1:c.1743G>A, NM_001354267.1:c.1743G>C, NM_001386148.2:c.1818G>A, NM_001386148.2:c.1818G>C, NM_001386148.1:c.1818G>A, NM_001386148.1:c.1818G>C, NM_001354272.2:c.1767G>A, NM_001354272.2:c.1767G>C, NM_001354272.1:c.1767G>A, NM_001354272.1:c.1767G>C, NM_001354274.2:c.1743G>A, NM_001354274.2:c.1743G>C, NM_001354274.1:c.1743G>A, NM_001354274.1:c.1743G>C, NM_001354275.2:c.1767G>A, NM_001354275.2:c.1767G>C, NM_001354275.1:c.1767G>A, NM_001354275.1:c.1767G>C, NM_001354276.2:c.1743G>A, NM_001354276.2:c.1743G>C, NM_001354276.1:c.1743G>A, NM_001354276.1:c.1743G>C, NM_001386187.2:c.1794G>A, NM_001386187.2:c.1794G>C, NM_001386187.1:c.1794G>A, NM_001386187.1:c.1794G>C, NM_001354277.2:c.1545G>A, NM_001354277.2:c.1545G>C, NM_001354277.1:c.1545G>A, NM_001354277.1:c.1545G>C, NM_001386174.1:c.1881G>A, NM_001386174.1:c.1881G>C, NM_001386175.1:c.1857G>A, NM_001386175.1:c.1857G>C, NM_001386142.1:c.1743G>A, NM_001386142.1:c.1743G>C, NM_001386144.1:c.1875G>A, NM_001386144.1:c.1875G>C, NM_001386143.1:c.1767G>A, NM_001386143.1:c.1767G>C, NM_001386146.1:c.1743G>A, NM_001386146.1:c.1743G>C, NM_001386160.1:c.1788G>A, NM_001386160.1:c.1788G>C, NM_001386147.1:c.1788G>A, NM_001386147.1:c.1788G>C, NM_001386149.1:c.1743G>A, NM_001386149.1:c.1743G>C, NM_001386152.1:c.1875G>A, NM_001386152.1:c.1875G>C, NM_001386150.1:c.1743G>A, NM_001386150.1:c.1743G>C, NM_001386161.1:c.1767G>A, NM_001386161.1:c.1767G>C, NM_001386153.1:c.1743G>A, NM_001386153.1:c.1743G>C, NM_001386154.1:c.1743G>A, NM_001386154.1:c.1743G>C, NM_001386162.1:c.1743G>A, NM_001386162.1:c.1743G>C, NM_001386157.1:c.1545G>A, NM_001386157.1:c.1545G>C, NM_001386173.1:c.1767G>A, NM_001386173.1:c.1767G>C, NP_001139.3:p.Lys610Asn, NP_066187.2:p.Lys610Asn, NP_001120965.1:p.Lys589Asn, NP_001341198.1:p.Lys540Asn, NP_001341154.1:p.Lys610Asn, NP_001341157.1:p.Lys610Asn, NP_001341161.1:p.Lys610Asn, NP_001341159.1:p.Lys625Asn, NP_001341160.1:p.Lys625Asn, NP_001341164.1:p.Lys610Asn, NP_001341165.1:p.Lys610Asn, NP_001341170.1:p.Lys625Asn, NP_001341166.1:p.Lys625Asn, NP_001341169.1:p.Lys625Asn, NP_001341171.1:p.Lys625Asn, NP_001341175.1:p.Lys610Asn, NP_001341168.1:p.Lys589Asn, NP_001341172.1:p.Lys589Asn, NP_001341173.1:p.Lys589Asn, NP_001341187.1:p.Lys610Asn, NP_001341178.1:p.Lys581Asn, NP_001341181.1:p.Lys589Asn, NP_001341183.1:p.Lys589Asn, NP_001341194.1:p.Lys610Asn, NP_001341184.1:p.Lys589Asn, NP_001341185.1:p.Lys589Asn, NP_001373115.1:p.Lys606Asn, NP_001341190.1:p.Lys596Asn, NP_001341191.1:p.Lys589Asn, NP_001341193.1:p.Lys581Asn, NP_001341202.1:p.Lys544Asn, NP_001341195.1:p.Lys581Asn, NP_001341196.1:p.Lys581Asn, NP_001373077.1:p.Lys606Asn, NP_001341201.1:p.Lys589Asn, NP_001341203.1:p.Lys581Asn, NP_001341204.1:p.Lys589Asn, NP_001341205.1:p.Lys581Asn, NP_001373116.1:p.Lys598Asn, NP_001341206.1:p.Lys515Asn, NP_001373103.1:p.Lys627Asn, NP_001373104.1:p.Lys619Asn, NP_001373071.1:p.Lys581Asn, NP_001373073.1:p.Lys625Asn, NP_001373072.1:p.Lys589Asn, NP_001373075.1:p.Lys581Asn, NP_001373089.1:p.Lys596Asn, NP_001373076.1:p.Lys596Asn, NP_001373078.1:p.Lys581Asn, NP_001373081.1:p.Lys625Asn, NP_001373079.1:p.Lys581Asn, NP_001373090.1:p.Lys589Asn, NP_001373082.1:p.Lys581Asn, NP_001373083.1:p.Lys581Asn, NP_001373091.1:p.Lys581Asn, NP_001373086.1:p.Lys515Asn

                    10.

                    rs1485692149 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,G,T [Show Flanks]
                      Chromosome:
                      4:113335899 (GRCh38)
                      4:114257055 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:113335898:C:A,NC_000004.12:113335898:C:G,NC_000004.12:113335898:C:T
                      Gene:
                      ANK2 (Varview)
                      Functional Consequence:
                      missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,stop_gained
                      Validated:
                      by frequency,by cluster
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000004.12:g.113335899C>A, NC_000004.12:g.113335899C>G, NC_000004.12:g.113335899C>T, NC_000004.11:g.114257055C>A, NC_000004.11:g.114257055C>G, NC_000004.11:g.114257055C>T, NG_009006.2:g.522817C>A, NG_009006.2:g.522817C>G, NG_009006.2:g.522817C>T, NM_001148.6:c.3433C>A, NM_001148.6:c.3433C>G, NM_001148.6:c.3433C>T, NM_001148.5:c.3433C>A, NM_001148.5:c.3433C>G, NM_001148.5:c.3433C>T, NM_001148.4:c.3433C>A, NM_001148.4:c.3433C>G, NM_001148.4:c.3433C>T, NM_020977.5:c.3433C>A, NM_020977.5:c.3433C>G, NM_020977.5:c.3433C>T, NM_020977.4:c.3433C>A, NM_020977.4:c.3433C>G, NM_020977.4:c.3433C>T, NM_020977.3:c.3433C>A, NM_020977.3:c.3433C>G, NM_020977.3:c.3433C>T, NM_001127493.3:c.3406C>A, NM_001127493.3:c.3406C>G, NM_001127493.3:c.3406C>T, NM_001127493.2:c.3406C>A, NM_001127493.2:c.3406C>G, NM_001127493.2:c.3406C>T, NM_001127493.1:c.3406C>A, NM_001127493.1:c.3406C>G, NM_001127493.1:c.3406C>T, NM_001354269.3:c.3220C>A, NM_001354269.3:c.3220C>G, NM_001354269.3:c.3220C>T, NM_001354269.2:c.3220C>A, NM_001354269.2:c.3220C>G, NM_001354269.2:c.3220C>T, NM_001354269.1:c.3220C>A, NM_001354269.1:c.3220C>G, NM_001354269.1:c.3220C>T, NM_001354225.2:c.3445C>A, NM_001354225.2:c.3445C>G, NM_001354225.2:c.3445C>T, NM_001354225.1:c.3445C>A, NM_001354225.1:c.3445C>G, NM_001354225.1:c.3445C>T, NM_001354228.2:c.3334C>A, NM_001354228.2:c.3334C>G, NM_001354228.2:c.3334C>T, NM_001354228.1:c.3334C>A, NM_001354228.1:c.3334C>G, NM_001354228.1:c.3334C>T, NM_001354232.2:c.3469C>A, NM_001354232.2:c.3469C>G, NM_001354232.2:c.3469C>T, NM_001354232.1:c.3469C>A, NM_001354232.1:c.3469C>G, NM_001354232.1:c.3469C>T, NM_001354230.2:c.3412C>A, NM_001354230.2:c.3412C>G, NM_001354230.2:c.3412C>T, NM_001354230.1:c.3412C>A, NM_001354230.1:c.3412C>G, NM_001354230.1:c.3412C>T, NM_001354231.2:c.3475C>A, NM_001354231.2:c.3475C>G, NM_001354231.2:c.3475C>T, NM_001354231.1:c.3475C>A, NM_001354231.1:c.3475C>G, NM_001354231.1:c.3475C>T, NM_001354235.2:c.3430C>A, NM_001354235.2:c.3430C>G, NM_001354235.2:c.3430C>T, NM_001354235.1:c.3430C>A, NM_001354235.1:c.3430C>G, NM_001354235.1:c.3430C>T, NM_001354236.2:c.3331C>A, NM_001354236.2:c.3331C>G, NM_001354236.2:c.3331C>T, NM_001354236.1:c.3331C>A, NM_001354236.1:c.3331C>G, NM_001354236.1:c.3331C>T, NM_001354241.2:c.3478C>A, NM_001354241.2:c.3478C>G, NM_001354241.2:c.3478C>T, NM_001354241.1:c.3478C>A, NM_001354241.1:c.3478C>G, NM_001354241.1:c.3478C>T, NM_001354237.2:c.3511C>A, NM_001354237.2:c.3511C>G, NM_001354237.2:c.3511C>T, NM_001354237.1:c.3511C>A, NM_001354237.1:c.3511C>G, NM_001354237.1:c.3511C>T, NM_001354245.2:c.3271C>A, NM_001354245.2:c.3271C>G, NM_001354245.2:c.3271C>T, NM_001354245.1:c.3271C>A, NM_001354245.1:c.3271C>G, NM_001354245.1:c.3271C>T, NM_001354240.2:c.3478C>A, NM_001354240.2:c.3478C>G, NM_001354240.2:c.3478C>T, NM_001354240.1:c.3478C>A, NM_001354240.1:c.3478C>G, NM_001354240.1:c.3478C>T, NM_001354242.2:c.3475C>A, NM_001354242.2:c.3475C>G, NM_001354242.2:c.3475C>T, NM_001354242.1:c.3475C>A, NM_001354242.1:c.3475C>G, NM_001354242.1:c.3475C>T, NM_001354246.2:c.3430C>A, NM_001354246.2:c.3430C>G, NM_001354246.2:c.3430C>T, NM_001354246.1:c.3430C>A, NM_001354246.1:c.3430C>G, NM_001354246.1:c.3430C>T, NM_001354239.2:c.3403C>A, NM_001354239.2:c.3403C>G, NM_001354239.2:c.3403C>T, NM_001354239.1:c.3403C>A, NM_001354239.1:c.3403C>G, NM_001354239.1:c.3403C>T, NM_001354243.2:c.3370C>A, NM_001354243.2:c.3370C>G, NM_001354243.2:c.3370C>T, NM_001354243.1:c.3370C>A, NM_001354243.1:c.3370C>G, NM_001354243.1:c.3370C>T, NM_001354244.2:c.3367C>A, NM_001354244.2:c.3367C>G, NM_001354244.2:c.3367C>T, NM_001354244.1:c.3367C>A, NM_001354244.1:c.3367C>G, NM_001354244.1:c.3367C>T, NM_001354258.2:c.3334C>A, NM_001354258.2:c.3334C>G, NM_001354258.2:c.3334C>T, NM_001354258.1:c.3334C>A, NM_001354258.1:c.3334C>G, NM_001354258.1:c.3334C>T, NM_001354249.2:c.3247C>A, NM_001354249.2:c.3247C>G, NM_001354249.2:c.3247C>T, NM_001354249.1:c.3247C>A, NM_001354249.1:c.3247C>G, NM_001354249.1:c.3247C>T, NM_001354252.2:c.3403C>A, NM_001354252.2:c.3403C>G, NM_001354252.2:c.3403C>T, NM_001354252.1:c.3403C>A, NM_001354252.1:c.3403C>G, NM_001354252.1:c.3403C>T, NM_001354253.2:c.3208C>A, NM_001354253.2:c.3208C>G, NM_001354253.2:c.3208C>T, NM_001354253.1:c.3208C>A, NM_001354253.1:c.3208C>G, NM_001354253.1:c.3208C>T, NM_001354254.2:c.3382C>A, NM_001354254.2:c.3382C>G, NM_001354254.2:c.3382C>T, NM_001354254.1:c.3382C>A, NM_001354254.1:c.3382C>G, NM_001354254.1:c.3382C>T, NM_001354265.2:c.3430C>A, NM_001354265.2:c.3430C>G, NM_001354265.2:c.3430C>T, NM_001354265.1:c.3430C>A, NM_001354265.1:c.3430C>G, NM_001354265.1:c.3430C>T, NM_001354255.2:c.3370C>A, NM_001354255.2:c.3370C>G, NM_001354255.2:c.3370C>T, NM_001354255.1:c.3370C>A, NM_001354255.1:c.3370C>G, NM_001354255.1:c.3370C>T, NM_001354256.2:c.3367C>A, NM_001354256.2:c.3367C>G, NM_001354256.2:c.3367C>T, NM_001354256.1:c.3367C>A, NM_001354256.1:c.3367C>G, NM_001354256.1:c.3367C>T, NM_001354257.2:c.3172C>A, NM_001354257.2:c.3172C>G, NM_001354257.2:c.3172C>T, NM_001354257.1:c.3172C>A, NM_001354257.1:c.3172C>G, NM_001354257.1:c.3172C>T, NM_001354268.2:c.3235C>A, NM_001354268.2:c.3235C>G, NM_001354268.2:c.3235C>T, NM_001354268.1:c.3235C>A, NM_001354268.1:c.3235C>G, NM_001354268.1:c.3235C>T, NM_001386186.2:c.3418C>A, NM_001386186.2:c.3418C>G, NM_001386186.2:c.3418C>T, NM_001386186.1:c.3418C>A, NM_001386186.1:c.3418C>G, NM_001386186.1:c.3418C>T, NM_001354260.2:c.3148C>A, NM_001354260.2:c.3148C>G, NM_001354260.2:c.3148C>T, NM_001354260.1:c.3148C>A, NM_001354260.1:c.3148C>G, NM_001354260.1:c.3148C>T, NM_001354261.2:c.3292C>A, NM_001354261.2:c.3292C>G, NM_001354261.2:c.3292C>T, NM_001354261.1:c.3292C>A, NM_001354261.1:c.3292C>G, NM_001354261.1:c.3292C>T, NM_001354262.2:c.3271C>A, NM_001354262.2:c.3271C>G, NM_001354262.2:c.3271C>T, NM_001354262.1:c.3271C>A, NM_001354262.1:c.3271C>G, NM_001354262.1:c.3271C>T, NM_001354264.2:c.3268C>A, NM_001354264.2:c.3268C>G, NM_001354264.2:c.3268C>T, NM_001354264.1:c.3268C>A, NM_001354264.1:c.3268C>G, NM_001354264.1:c.3268C>T, NM_001354273.2:c.3133C>A, NM_001354273.2:c.3133C>G, NM_001354273.2:c.3133C>T, NM_001354273.1:c.3133C>A, NM_001354273.1:c.3133C>G, NM_001354273.1:c.3133C>T, NM_001354266.2:c.3247C>A, NM_001354266.2:c.3247C>G, NM_001354266.2:c.3247C>T, NM_001354266.1:c.3247C>A, NM_001354266.1:c.3247C>G, NM_001354266.1:c.3247C>T, NM_001354267.2:c.3247C>A, NM_001354267.2:c.3247C>G, NM_001354267.2:c.3247C>T, NM_001354267.1:c.3247C>A, NM_001354267.1:c.3247C>G, NM_001354267.1:c.3247C>T, NM_001354270.2:c.3208C>A, NM_001354270.2:c.3208C>G, NM_001354270.2:c.3208C>T, NM_001354270.1:c.3208C>A, NM_001354270.1:c.3208C>G, NM_001354270.1:c.3208C>T, NM_001386148.2:c.3418C>A, NM_001386148.2:c.3418C>G, NM_001386148.2:c.3418C>T, NM_001386148.1:c.3418C>A, NM_001386148.1:c.3418C>G, NM_001386148.1:c.3418C>T, NM_001354272.2:c.3304C>A, NM_001354272.2:c.3304C>G, NM_001354272.2:c.3304C>T, NM_001354272.1:c.3304C>A, NM_001354272.1:c.3304C>G, NM_001354272.1:c.3304C>T, NM_001354271.2:c.3148C>A, NM_001354271.2:c.3148C>G, NM_001354271.2:c.3148C>T, NM_001354271.1:c.3148C>A, NM_001354271.1:c.3148C>G, NM_001354271.1:c.3148C>T, NM_001354274.2:c.3232C>A, NM_001354274.2:c.3232C>G, NM_001354274.2:c.3232C>T, NM_001354274.1:c.3232C>A, NM_001354274.1:c.3232C>G, NM_001354274.1:c.3232C>T, NM_001354275.2:c.3271C>A, NM_001354275.2:c.3271C>G, NM_001354275.2:c.3271C>T, NM_001354275.1:c.3271C>A, NM_001354275.1:c.3271C>G, NM_001354275.1:c.3271C>T, NM_001354276.2:c.3247C>A, NM_001354276.2:c.3247C>G, NM_001354276.2:c.3247C>T, NM_001354276.1:c.3247C>A, NM_001354276.1:c.3247C>G, NM_001354276.1:c.3247C>T, NM_001386187.2:c.3298C>A, NM_001386187.2:c.3298C>G, NM_001386187.2:c.3298C>T, NM_001386187.1:c.3298C>A, NM_001386187.1:c.3298C>G, NM_001386187.1:c.3298C>T, NM_001354277.2:c.3049C>A, NM_001354277.2:c.3049C>G, NM_001354277.2:c.3049C>T, NM_001354277.1:c.3049C>A, NM_001354277.1:c.3049C>G, NM_001354277.1:c.3049C>T, NM_001354278.2:c.961C>A, NM_001354278.2:c.961C>G, NM_001354278.2:c.961C>T, NM_001354278.1:c.961C>A, NM_001354278.1:c.961C>G, NM_001354278.1:c.961C>T, NM_001354279.2:c.997C>A, NM_001354279.2:c.997C>G, NM_001354279.2:c.997C>T, NM_001354279.1:c.997C>A, NM_001354279.1:c.997C>G, NM_001354279.1:c.997C>T, NM_001354280.2:c.982C>A, NM_001354280.2:c.982C>G, NM_001354280.2:c.982C>T, NM_001354280.1:c.982C>A, NM_001354280.1:c.982C>G, NM_001354280.1:c.982C>T, NM_001354281.2:c.961C>A, NM_001354281.2:c.961C>G, NM_001354281.2:c.961C>T, NM_001354281.1:c.961C>A, NM_001354281.1:c.961C>G, NM_001354281.1:c.961C>T, NM_001354282.2:c.997C>A, NM_001354282.2:c.997C>G, NM_001354282.2:c.997C>T, NM_001354282.1:c.997C>A, NM_001354282.1:c.997C>G, NM_001354282.1:c.997C>T, NM_001386174.1:c.3574C>A, NM_001386174.1:c.3574C>G, NM_001386174.1:c.3574C>T, NM_001386175.1:c.3550C>A, NM_001386175.1:c.3550C>G, NM_001386175.1:c.3550C>T, NM_001386142.1:c.3232C>A, NM_001386142.1:c.3232C>G, NM_001386142.1:c.3232C>T, NM_001386144.1:c.3478C>A, NM_001386144.1:c.3478C>G, NM_001386144.1:c.3478C>T, NM_001386143.1:c.3370C>A, NM_001386143.1:c.3370C>G, NM_001386143.1:c.3370C>T, NM_001386146.1:c.3247C>A, NM_001386146.1:c.3247C>G, NM_001386146.1:c.3247C>T, NM_001386160.1:c.3277C>A, NM_001386160.1:c.3277C>G, NM_001386160.1:c.3277C>T, NM_001386147.1:c.3292C>A, NM_001386147.1:c.3292C>G, NM_001386147.1:c.3292C>T, NM_001386149.1:c.3247C>A, NM_001386149.1:c.3247C>G, NM_001386149.1:c.3247C>T, NM_001386152.1:c.3490C>A, NM_001386152.1:c.3490C>G, NM_001386152.1:c.3490C>T, NM_001386150.1:c.3247C>A, NM_001386150.1:c.3247C>G, NM_001386150.1:c.3247C>T, NM_001386161.1:c.3367C>A, NM_001386161.1:c.3367C>G, NM_001386161.1:c.3367C>T, NM_001386151.1:c.3148C>A, NM_001386151.1:c.3148C>G, NM_001386151.1:c.3148C>T, NM_001386153.1:c.3247C>A, NM_001386153.1:c.3247C>G, NM_001386153.1:c.3247C>T, NM_001386154.1:c.3232C>A, NM_001386154.1:c.3232C>G, NM_001386154.1:c.3232C>T, NM_001386156.1:c.3172C>A, NM_001386156.1:c.3172C>G, NM_001386156.1:c.3172C>T, NM_001386162.1:c.3247C>A, NM_001386162.1:c.3247C>G, NM_001386162.1:c.3247C>T, NM_001386157.1:c.3049C>A, NM_001386157.1:c.3049C>G, NM_001386157.1:c.3049C>T, NM_001386158.1:c.2950C>A, NM_001386158.1:c.2950C>G, NM_001386158.1:c.2950C>T, NM_001386173.1:c.3472C>A, NM_001386173.1:c.3472C>G, NM_001386173.1:c.3472C>T, NP_001139.3:p.Arg1145Gly, NP_001139.3:p.Arg1145Ter, NP_066187.2:p.Arg1145Gly, NP_066187.2:p.Arg1145Ter, NP_001120965.1:p.Arg1136Gly, NP_001120965.1:p.Arg1136Ter, NP_001341198.1:p.Arg1074Gly, NP_001341198.1:p.Arg1074Ter, NP_001341154.1:p.Arg1149Gly, NP_001341154.1:p.Arg1149Ter, NP_001341157.1:p.Arg1112Gly, NP_001341157.1:p.Arg1112Ter, NP_001341161.1:p.Arg1157Gly, NP_001341161.1:p.Arg1157Ter, NP_001341159.1:p.Arg1138Gly, NP_001341159.1:p.Arg1138Ter, NP_001341160.1:p.Arg1159Gly, NP_001341160.1:p.Arg1159Ter, NP_001341164.1:p.Arg1144Gly, NP_001341164.1:p.Arg1144Ter, NP_001341165.1:p.Arg1111Gly, NP_001341165.1:p.Arg1111Ter, NP_001341170.1:p.Arg1160Gly, NP_001341170.1:p.Arg1160Ter, NP_001341166.1:p.Arg1171Gly, NP_001341166.1:p.Arg1171Ter, NP_001341174.1:p.Arg1091Gly, NP_001341174.1:p.Arg1091Ter, NP_001341169.1:p.Arg1160Gly, NP_001341169.1:p.Arg1160Ter, NP_001341171.1:p.Arg1159Gly, NP_001341171.1:p.Arg1159Ter, NP_001341175.1:p.Arg1144Gly, NP_001341175.1:p.Arg1144Ter, NP_001341168.1:p.Arg1135Gly, NP_001341168.1:p.Arg1135Ter, NP_001341172.1:p.Arg1124Gly, NP_001341172.1:p.Arg1124Ter, NP_001341173.1:p.Arg1123Gly, NP_001341173.1:p.Arg1123Ter, NP_001341187.1:p.Arg1112Gly, NP_001341187.1:p.Arg1112Ter, NP_001341178.1:p.Arg1083Gly, NP_001341178.1:p.Arg1083Ter, NP_001341181.1:p.Arg1135Gly, NP_001341181.1:p.Arg1135Ter, NP_001341182.1:p.Arg1070Gly, NP_001341182.1:p.Arg1070Ter, NP_001341183.1:p.Arg1128Gly, NP_001341183.1:p.Arg1128Ter, NP_001341194.1:p.Arg1144Gly, NP_001341194.1:p.Arg1144Ter, NP_001341184.1:p.Arg1124Gly, NP_001341184.1:p.Arg1124Ter, NP_001341185.1:p.Arg1123Gly, NP_001341185.1:p.Arg1123Ter, NP_001341186.1:p.Arg1058Gly, NP_001341186.1:p.Arg1058Ter, NP_001341197.1:p.Arg1079Gly, NP_001341197.1:p.Arg1079Ter, NP_001373115.1:p.Arg1140Gly, NP_001373115.1:p.Arg1140Ter, NP_001341189.1:p.Arg1050Gly, NP_001341189.1:p.Arg1050Ter, NP_001341190.1:p.Arg1098Gly, NP_001341190.1:p.Arg1098Ter, NP_001341191.1:p.Arg1091Gly, NP_001341191.1:p.Arg1091Ter, NP_001341193.1:p.Arg1090Gly, NP_001341193.1:p.Arg1090Ter, NP_001341202.1:p.Arg1045Gly, NP_001341202.1:p.Arg1045Ter, NP_001341195.1:p.Arg1083Gly, NP_001341195.1:p.Arg1083Ter, NP_001341196.1:p.Arg1083Gly, NP_001341196.1:p.Arg1083Ter, NP_001341199.1:p.Arg1070Gly, NP_001341199.1:p.Arg1070Ter, NP_001373077.1:p.Arg1140Gly, NP_001373077.1:p.Arg1140Ter, NP_001341201.1:p.Arg1102Gly, NP_001341201.1:p.Arg1102Ter, NP_001341200.1:p.Arg1050Gly, NP_001341200.1:p.Arg1050Ter, NP_001341203.1:p.Arg1078Gly, NP_001341203.1:p.Arg1078Ter, NP_001341204.1:p.Arg1091Gly, NP_001341204.1:p.Arg1091Ter, NP_001341205.1:p.Arg1083Gly, NP_001341205.1:p.Arg1083Ter, NP_001373116.1:p.Arg1100Gly, NP_001373116.1:p.Arg1100Ter, NP_001341206.1:p.Arg1017Gly, NP_001341206.1:p.Arg1017Ter, NP_001341207.1:p.Arg321Gly, NP_001341207.1:p.Arg321Ter, NP_001341208.1:p.Arg333Gly, NP_001341208.1:p.Arg333Ter, NP_001341209.1:p.Arg328Gly, NP_001341209.1:p.Arg328Ter, NP_001341210.1:p.Arg321Gly, NP_001341210.1:p.Arg321Ter, NP_001341211.1:p.Arg333Gly, NP_001341211.1:p.Arg333Ter, NP_001373103.1:p.Arg1192Gly, NP_001373103.1:p.Arg1192Ter, NP_001373104.1:p.Arg1184Gly, NP_001373104.1:p.Arg1184Ter, NP_001373071.1:p.Arg1078Gly, NP_001373071.1:p.Arg1078Ter, NP_001373073.1:p.Arg1160Gly, NP_001373073.1:p.Arg1160Ter, NP_001373072.1:p.Arg1124Gly, NP_001373072.1:p.Arg1124Ter, NP_001373075.1:p.Arg1083Gly, NP_001373075.1:p.Arg1083Ter, NP_001373089.1:p.Arg1093Gly, NP_001373089.1:p.Arg1093Ter, NP_001373076.1:p.Arg1098Gly, NP_001373076.1:p.Arg1098Ter, NP_001373078.1:p.Arg1083Gly, NP_001373078.1:p.Arg1083Ter, NP_001373081.1:p.Arg1164Gly, NP_001373081.1:p.Arg1164Ter, NP_001373079.1:p.Arg1083Gly, NP_001373079.1:p.Arg1083Ter, NP_001373090.1:p.Arg1123Gly, NP_001373090.1:p.Arg1123Ter, NP_001373080.1:p.Arg1050Gly, NP_001373080.1:p.Arg1050Ter, NP_001373082.1:p.Arg1083Gly, NP_001373082.1:p.Arg1083Ter, NP_001373083.1:p.Arg1078Gly, NP_001373083.1:p.Arg1078Ter, NP_001373085.1:p.Arg1058Gly, NP_001373085.1:p.Arg1058Ter, NP_001373091.1:p.Arg1083Gly, NP_001373091.1:p.Arg1083Ter, NP_001373086.1:p.Arg1017Gly, NP_001373086.1:p.Arg1017Ter, NP_001373087.1:p.Arg984Gly, NP_001373087.1:p.Arg984Ter

                      11.

                      rs1483776959 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,G,T [Show Flanks]
                        Chromosome:
                        4:113369587 (GRCh38)
                        4:114290743 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:113369586:C:A,NC_000004.12:113369586:C:G,NC_000004.12:113369586:C:T
                        Gene:
                        ANK2 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000071/1 (ALFA)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000004.12:g.113369587C>A, NC_000004.12:g.113369587C>G, NC_000004.12:g.113369587C>T, NC_000004.11:g.114290743C>A, NC_000004.11:g.114290743C>G, NC_000004.11:g.114290743C>T, NG_009006.2:g.556505C>A, NG_009006.2:g.556505C>G, NG_009006.2:g.556505C>T, NM_001148.6:c.11392C>A, NM_001148.6:c.11392C>G, NM_001148.6:c.11392C>T, NM_001148.5:c.11392C>A, NM_001148.5:c.11392C>G, NM_001148.5:c.11392C>T, NM_001148.4:c.11392C>A, NM_001148.4:c.11392C>G, NM_001148.4:c.11392C>T, NM_020977.5:c.5137C>A, NM_020977.5:c.5137C>G, NM_020977.5:c.5137C>T, NM_020977.4:c.5137C>A, NM_020977.4:c.5137C>G, NM_020977.4:c.5137C>T, NM_020977.3:c.5137C>A, NM_020977.3:c.5137C>G, NM_020977.3:c.5137C>T, NM_001127493.3:c.5110C>A, NM_001127493.3:c.5110C>G, NM_001127493.3:c.5110C>T, NM_001127493.2:c.5110C>A, NM_001127493.2:c.5110C>G, NM_001127493.2:c.5110C>T, NM_001127493.1:c.5110C>A, NM_001127493.1:c.5110C>G, NM_001127493.1:c.5110C>T, NM_001354269.3:c.4924C>A, NM_001354269.3:c.4924C>G, NM_001354269.3:c.4924C>T, NM_001354269.2:c.4924C>A, NM_001354269.2:c.4924C>G, NM_001354269.2:c.4924C>T, NM_001354269.1:c.4924C>A, NM_001354269.1:c.4924C>G, NM_001354269.1:c.4924C>T, NM_001354225.2:c.5149C>A, NM_001354225.2:c.5149C>G, NM_001354225.2:c.5149C>T, NM_001354225.1:c.5149C>A, NM_001354225.1:c.5149C>G, NM_001354225.1:c.5149C>T, NM_001354228.2:c.5038C>A, NM_001354228.2:c.5038C>G, NM_001354228.2:c.5038C>T, NM_001354228.1:c.5038C>A, NM_001354228.1:c.5038C>G, NM_001354228.1:c.5038C>T, NM_001354232.2:c.5173C>A, NM_001354232.2:c.5173C>G, NM_001354232.2:c.5173C>T, NM_001354232.1:c.5173C>A, NM_001354232.1:c.5173C>G, NM_001354232.1:c.5173C>T, NM_001354230.2:c.5116C>A, NM_001354230.2:c.5116C>G, NM_001354230.2:c.5116C>T, NM_001354230.1:c.5116C>A, NM_001354230.1:c.5116C>G, NM_001354230.1:c.5116C>T, NM_001354231.2:c.5179C>A, NM_001354231.2:c.5179C>G, NM_001354231.2:c.5179C>T, NM_001354231.1:c.5179C>A, NM_001354231.1:c.5179C>G, NM_001354231.1:c.5179C>T, NM_001354235.2:c.5134C>A, NM_001354235.2:c.5134C>G, NM_001354235.2:c.5134C>T, NM_001354235.1:c.5134C>A, NM_001354235.1:c.5134C>G, NM_001354235.1:c.5134C>T, NM_001354236.2:c.5035C>A, NM_001354236.2:c.5035C>G, NM_001354236.2:c.5035C>T, NM_001354236.1:c.5035C>A, NM_001354236.1:c.5035C>G, NM_001354236.1:c.5035C>T, NM_001354241.2:c.5182C>A, NM_001354241.2:c.5182C>G, NM_001354241.2:c.5182C>T, NM_001354241.1:c.5182C>A, NM_001354241.1:c.5182C>G, NM_001354241.1:c.5182C>T, NM_001354237.2:c.5215C>A, NM_001354237.2:c.5215C>G, NM_001354237.2:c.5215C>T, NM_001354237.1:c.5215C>A, NM_001354237.1:c.5215C>G, NM_001354237.1:c.5215C>T, NM_001354245.2:c.4975C>A, NM_001354245.2:c.4975C>G, NM_001354245.2:c.4975C>T, NM_001354245.1:c.4975C>A, NM_001354245.1:c.4975C>G, NM_001354245.1:c.4975C>T, NM_001354240.2:c.5182C>A, NM_001354240.2:c.5182C>G, NM_001354240.2:c.5182C>T, NM_001354240.1:c.5182C>A, NM_001354240.1:c.5182C>G, NM_001354240.1:c.5182C>T, NM_001354242.2:c.5179C>A, NM_001354242.2:c.5179C>G, NM_001354242.2:c.5179C>T, NM_001354242.1:c.5179C>A, NM_001354242.1:c.5179C>G, NM_001354242.1:c.5179C>T, NM_001354246.2:c.5134C>A, NM_001354246.2:c.5134C>G, NM_001354246.2:c.5134C>T, NM_001354246.1:c.5134C>A, NM_001354246.1:c.5134C>G, NM_001354246.1:c.5134C>T, NM_001354239.2:c.5107C>A, NM_001354239.2:c.5107C>G, NM_001354239.2:c.5107C>T, NM_001354239.1:c.5107C>A, NM_001354239.1:c.5107C>G, NM_001354239.1:c.5107C>T, NM_001354243.2:c.5074C>A, NM_001354243.2:c.5074C>G, NM_001354243.2:c.5074C>T, NM_001354243.1:c.5074C>A, NM_001354243.1:c.5074C>G, NM_001354243.1:c.5074C>T, NM_001354244.2:c.5071C>A, NM_001354244.2:c.5071C>G, NM_001354244.2:c.5071C>T, NM_001354244.1:c.5071C>A, NM_001354244.1:c.5071C>G, NM_001354244.1:c.5071C>T, NM_001354258.2:c.5038C>A, NM_001354258.2:c.5038C>G, NM_001354258.2:c.5038C>T, NM_001354258.1:c.5038C>A, NM_001354258.1:c.5038C>G, NM_001354258.1:c.5038C>T, NM_001354249.2:c.4951C>A, NM_001354249.2:c.4951C>G, NM_001354249.2:c.4951C>T, NM_001354249.1:c.4951C>A, NM_001354249.1:c.4951C>G, NM_001354249.1:c.4951C>T, NM_001354252.2:c.5107C>A, NM_001354252.2:c.5107C>G, NM_001354252.2:c.5107C>T, NM_001354252.1:c.5107C>A, NM_001354252.1:c.5107C>G, NM_001354252.1:c.5107C>T, NM_001354253.2:c.4912C>A, NM_001354253.2:c.4912C>G, NM_001354253.2:c.4912C>T, NM_001354253.1:c.4912C>A, NM_001354253.1:c.4912C>G, NM_001354253.1:c.4912C>T, NM_001354254.2:c.5086C>A, NM_001354254.2:c.5086C>G, NM_001354254.2:c.5086C>T, NM_001354254.1:c.5086C>A, NM_001354254.1:c.5086C>G, NM_001354254.1:c.5086C>T, NM_001354265.2:c.5134C>A, NM_001354265.2:c.5134C>G, NM_001354265.2:c.5134C>T, NM_001354265.1:c.5134C>A, NM_001354265.1:c.5134C>G, NM_001354265.1:c.5134C>T, NM_001354255.2:c.5074C>A, NM_001354255.2:c.5074C>G, NM_001354255.2:c.5074C>T, NM_001354255.1:c.5074C>A, NM_001354255.1:c.5074C>G, NM_001354255.1:c.5074C>T, NM_001354256.2:c.5071C>A, NM_001354256.2:c.5071C>G, NM_001354256.2:c.5071C>T, NM_001354256.1:c.5071C>A, NM_001354256.1:c.5071C>G, NM_001354256.1:c.5071C>T, NM_001354257.2:c.4876C>A, NM_001354257.2:c.4876C>G, NM_001354257.2:c.4876C>T, NM_001354257.1:c.4876C>A, NM_001354257.1:c.4876C>G, NM_001354257.1:c.4876C>T, NM_001354268.2:c.4939C>A, NM_001354268.2:c.4939C>G, NM_001354268.2:c.4939C>T, NM_001354268.1:c.4939C>A, NM_001354268.1:c.4939C>G, NM_001354268.1:c.4939C>T, NM_001386186.2:c.5122C>A, NM_001386186.2:c.5122C>G, NM_001386186.2:c.5122C>T, NM_001386186.1:c.5122C>A, NM_001386186.1:c.5122C>G, NM_001386186.1:c.5122C>T, NM_001354260.2:c.4852C>A, NM_001354260.2:c.4852C>G, NM_001354260.2:c.4852C>T, NM_001354260.1:c.4852C>A, NM_001354260.1:c.4852C>G, NM_001354260.1:c.4852C>T, NM_001354261.2:c.4996C>A, NM_001354261.2:c.4996C>G, NM_001354261.2:c.4996C>T, NM_001354261.1:c.4996C>A, NM_001354261.1:c.4996C>G, NM_001354261.1:c.4996C>T, NM_001354262.2:c.4975C>A, NM_001354262.2:c.4975C>G, NM_001354262.2:c.4975C>T, NM_001354262.1:c.4975C>A, NM_001354262.1:c.4975C>G, NM_001354262.1:c.4975C>T, NM_001354264.2:c.4972C>A, NM_001354264.2:c.4972C>G, NM_001354264.2:c.4972C>T, NM_001354264.1:c.4972C>A, NM_001354264.1:c.4972C>G, NM_001354264.1:c.4972C>T, NM_001354273.2:c.4837C>A, NM_001354273.2:c.4837C>G, NM_001354273.2:c.4837C>T, NM_001354273.1:c.4837C>A, NM_001354273.1:c.4837C>G, NM_001354273.1:c.4837C>T, NM_001354266.2:c.4951C>A, NM_001354266.2:c.4951C>G, NM_001354266.2:c.4951C>T, NM_001354266.1:c.4951C>A, NM_001354266.1:c.4951C>G, NM_001354266.1:c.4951C>T, NM_001354267.2:c.4951C>A, NM_001354267.2:c.4951C>G, NM_001354267.2:c.4951C>T, NM_001354267.1:c.4951C>A, NM_001354267.1:c.4951C>G, NM_001354267.1:c.4951C>T, NM_001354270.2:c.4912C>A, NM_001354270.2:c.4912C>G, NM_001354270.2:c.4912C>T, NM_001354270.1:c.4912C>A, NM_001354270.1:c.4912C>G, NM_001354270.1:c.4912C>T, NM_001386148.2:c.5122C>A, NM_001386148.2:c.5122C>G, NM_001386148.2:c.5122C>T, NM_001386148.1:c.5122C>A, NM_001386148.1:c.5122C>G, NM_001386148.1:c.5122C>T, NM_001354272.2:c.5008C>A, NM_001354272.2:c.5008C>G, NM_001354272.2:c.5008C>T, NM_001354272.1:c.5008C>A, NM_001354272.1:c.5008C>G, NM_001354272.1:c.5008C>T, NM_001354271.2:c.4852C>A, NM_001354271.2:c.4852C>G, NM_001354271.2:c.4852C>T, NM_001354271.1:c.4852C>A, NM_001354271.1:c.4852C>G, NM_001354271.1:c.4852C>T, NM_001354274.2:c.4903C>A, NM_001354274.2:c.4903C>G, NM_001354274.2:c.4903C>T, NM_001354274.1:c.4903C>A, NM_001354274.1:c.4903C>G, NM_001354274.1:c.4903C>T, NM_001354275.2:c.4975C>A, NM_001354275.2:c.4975C>G, NM_001354275.2:c.4975C>T, NM_001354275.1:c.4975C>A, NM_001354275.1:c.4975C>G, NM_001354275.1:c.4975C>T, NM_001354276.2:c.4951C>A, NM_001354276.2:c.4951C>G, NM_001354276.2:c.4951C>T, NM_001354276.1:c.4951C>A, NM_001354276.1:c.4951C>G, NM_001354276.1:c.4951C>T, NM_001386187.2:c.5002C>A, NM_001386187.2:c.5002C>G, NM_001386187.2:c.5002C>T, NM_001386187.1:c.5002C>A, NM_001386187.1:c.5002C>G, NM_001386187.1:c.5002C>T, NM_001354277.2:c.4753C>A, NM_001354277.2:c.4753C>G, NM_001354277.2:c.4753C>T, NM_001354277.1:c.4753C>A, NM_001354277.1:c.4753C>G, NM_001354277.1:c.4753C>T, NM_001354278.2:c.2665C>A, NM_001354278.2:c.2665C>G, NM_001354278.2:c.2665C>T, NM_001354278.1:c.2665C>A, NM_001354278.1:c.2665C>G, NM_001354278.1:c.2665C>T, NM_001354279.2:c.2701C>A, NM_001354279.2:c.2701C>G, NM_001354279.2:c.2701C>T, NM_001354279.1:c.2701C>A, NM_001354279.1:c.2701C>G, NM_001354279.1:c.2701C>T, NM_001354280.2:c.2686C>A, NM_001354280.2:c.2686C>G, NM_001354280.2:c.2686C>T, NM_001354280.1:c.2686C>A, NM_001354280.1:c.2686C>G, NM_001354280.1:c.2686C>T, NM_001354281.2:c.2665C>A, NM_001354281.2:c.2665C>G, NM_001354281.2:c.2665C>T, NM_001354281.1:c.2665C>A, NM_001354281.1:c.2665C>G, NM_001354281.1:c.2665C>T, NM_001354282.2:c.2701C>A, NM_001354282.2:c.2701C>G, NM_001354282.2:c.2701C>T, NM_001354282.1:c.2701C>A, NM_001354282.1:c.2701C>G, NM_001354282.1:c.2701C>T, NM_001386174.1:c.11533C>A, NM_001386174.1:c.11533C>G, NM_001386174.1:c.11533C>T, NM_001386175.1:c.11509C>A, NM_001386175.1:c.11509C>G, NM_001386175.1:c.11509C>T, NM_001386142.1:c.11158C>A, NM_001386142.1:c.11158C>G, NM_001386142.1:c.11158C>T, NM_001386166.1:c.7792C>A, NM_001386166.1:c.7792C>G, NM_001386166.1:c.7792C>T, NM_001386144.1:c.5182C>A, NM_001386144.1:c.5182C>G, NM_001386144.1:c.5182C>T, NM_001386143.1:c.5074C>A, NM_001386143.1:c.5074C>G, NM_001386143.1:c.5074C>T, NM_001386146.1:c.4918C>A, NM_001386146.1:c.4918C>G, NM_001386146.1:c.4918C>T, NM_001386160.1:c.4981C>A, NM_001386160.1:c.4981C>G, NM_001386160.1:c.4981C>T, NM_001386147.1:c.4963C>A, NM_001386147.1:c.4963C>G, NM_001386147.1:c.4963C>T, NM_001386149.1:c.4918C>A, NM_001386149.1:c.4918C>G, NM_001386149.1:c.4918C>T, NM_001386152.1:c.5194C>A, NM_001386152.1:c.5194C>G, NM_001386152.1:c.5194C>T, NM_001386150.1:c.4918C>A, NM_001386150.1:c.4918C>G, NM_001386150.1:c.4918C>T, NM_001386161.1:c.5071C>A, NM_001386161.1:c.5071C>G, NM_001386161.1:c.5071C>T, NM_001386151.1:c.4852C>A, NM_001386151.1:c.4852C>G, NM_001386151.1:c.4852C>T, NM_001386153.1:c.4918C>A, NM_001386153.1:c.4918C>G, NM_001386153.1:c.4918C>T, NM_001386154.1:c.4903C>A, NM_001386154.1:c.4903C>G, NM_001386154.1:c.4903C>T, NM_001386156.1:c.4876C>A, NM_001386156.1:c.4876C>G, NM_001386156.1:c.4876C>T, NM_001386162.1:c.4951C>A, NM_001386162.1:c.4951C>G, NM_001386162.1:c.4951C>T, NM_001386157.1:c.4753C>A, NM_001386157.1:c.4753C>G, NM_001386157.1:c.4753C>T, NM_001386158.1:c.4654C>A, NM_001386158.1:c.4654C>G, NM_001386158.1:c.4654C>T, NM_001386167.1:c.1537C>A, NM_001386167.1:c.1537C>G, NM_001386167.1:c.1537C>T, NM_001386173.1:c.11431C>A, NM_001386173.1:c.11431C>G, NM_001386173.1:c.11431C>T, NP_001139.3:p.Pro3798Thr, NP_001139.3:p.Pro3798Ala, NP_001139.3:p.Pro3798Ser, NP_066187.2:p.Pro1713Thr, NP_066187.2:p.Pro1713Ala, NP_066187.2:p.Pro1713Ser, NP_001120965.1:p.Pro1704Thr, NP_001120965.1:p.Pro1704Ala, NP_001120965.1:p.Pro1704Ser, NP_001341198.1:p.Pro1642Thr, NP_001341198.1:p.Pro1642Ala, NP_001341198.1:p.Pro1642Ser, NP_001341154.1:p.Pro1717Thr, NP_001341154.1:p.Pro1717Ala, NP_001341154.1:p.Pro1717Ser, NP_001341157.1:p.Pro1680Thr, NP_001341157.1:p.Pro1680Ala, NP_001341157.1:p.Pro1680Ser, NP_001341161.1:p.Pro1725Thr, NP_001341161.1:p.Pro1725Ala, NP_001341161.1:p.Pro1725Ser, NP_001341159.1:p.Pro1706Thr, NP_001341159.1:p.Pro1706Ala, NP_001341159.1:p.Pro1706Ser, NP_001341160.1:p.Pro1727Thr, NP_001341160.1:p.Pro1727Ala, NP_001341160.1:p.Pro1727Ser, NP_001341164.1:p.Pro1712Thr, NP_001341164.1:p.Pro1712Ala, NP_001341164.1:p.Pro1712Ser, NP_001341165.1:p.Pro1679Thr, NP_001341165.1:p.Pro1679Ala, NP_001341165.1:p.Pro1679Ser, NP_001341170.1:p.Pro1728Thr, NP_001341170.1:p.Pro1728Ala, NP_001341170.1:p.Pro1728Ser, NP_001341166.1:p.Pro1739Thr, NP_001341166.1:p.Pro1739Ala, NP_001341166.1:p.Pro1739Ser, NP_001341174.1:p.Pro1659Thr, NP_001341174.1:p.Pro1659Ala, NP_001341174.1:p.Pro1659Ser, NP_001341169.1:p.Pro1728Thr, NP_001341169.1:p.Pro1728Ala, NP_001341169.1:p.Pro1728Ser, NP_001341171.1:p.Pro1727Thr, NP_001341171.1:p.Pro1727Ala, NP_001341171.1:p.Pro1727Ser, NP_001341175.1:p.Pro1712Thr, NP_001341175.1:p.Pro1712Ala, NP_001341175.1:p.Pro1712Ser, NP_001341168.1:p.Pro1703Thr, NP_001341168.1:p.Pro1703Ala, NP_001341168.1:p.Pro1703Ser, NP_001341172.1:p.Pro1692Thr, NP_001341172.1:p.Pro1692Ala, NP_001341172.1:p.Pro1692Ser, NP_001341173.1:p.Pro1691Thr, NP_001341173.1:p.Pro1691Ala, NP_001341173.1:p.Pro1691Ser, NP_001341187.1:p.Pro1680Thr, NP_001341187.1:p.Pro1680Ala, NP_001341187.1:p.Pro1680Ser, NP_001341178.1:p.Pro1651Thr, NP_001341178.1:p.Pro1651Ala, NP_001341178.1:p.Pro1651Ser, NP_001341181.1:p.Pro1703Thr, NP_001341181.1:p.Pro1703Ala, NP_001341181.1:p.Pro1703Ser, NP_001341182.1:p.Pro1638Thr, NP_001341182.1:p.Pro1638Ala, NP_001341182.1:p.Pro1638Ser, NP_001341183.1:p.Pro1696Thr, NP_001341183.1:p.Pro1696Ala, NP_001341183.1:p.Pro1696Ser, NP_001341194.1:p.Pro1712Thr, NP_001341194.1:p.Pro1712Ala, NP_001341194.1:p.Pro1712Ser, NP_001341184.1:p.Pro1692Thr, NP_001341184.1:p.Pro1692Ala, NP_001341184.1:p.Pro1692Ser, NP_001341185.1:p.Pro1691Thr, NP_001341185.1:p.Pro1691Ala, NP_001341185.1:p.Pro1691Ser, NP_001341186.1:p.Pro1626Thr, NP_001341186.1:p.Pro1626Ala, NP_001341186.1:p.Pro1626Ser, NP_001341197.1:p.Pro1647Thr, NP_001341197.1:p.Pro1647Ala, NP_001341197.1:p.Pro1647Ser, NP_001373115.1:p.Pro1708Thr, NP_001373115.1:p.Pro1708Ala, NP_001373115.1:p.Pro1708Ser, NP_001341189.1:p.Pro1618Thr, NP_001341189.1:p.Pro1618Ala, NP_001341189.1:p.Pro1618Ser, NP_001341190.1:p.Pro1666Thr, NP_001341190.1:p.Pro1666Ala, NP_001341190.1:p.Pro1666Ser, NP_001341191.1:p.Pro1659Thr, NP_001341191.1:p.Pro1659Ala, NP_001341191.1:p.Pro1659Ser, NP_001341193.1:p.Pro1658Thr, NP_001341193.1:p.Pro1658Ala, NP_001341193.1:p.Pro1658Ser, NP_001341202.1:p.Pro1613Thr, NP_001341202.1:p.Pro1613Ala, NP_001341202.1:p.Pro1613Ser, NP_001341195.1:p.Pro1651Thr, NP_001341195.1:p.Pro1651Ala, NP_001341195.1:p.Pro1651Ser, NP_001341196.1:p.Pro1651Thr, NP_001341196.1:p.Pro1651Ala, NP_001341196.1:p.Pro1651Ser, NP_001341199.1:p.Pro1638Thr, NP_001341199.1:p.Pro1638Ala, NP_001341199.1:p.Pro1638Ser, NP_001373077.1:p.Pro1708Thr, NP_001373077.1:p.Pro1708Ala, NP_001373077.1:p.Pro1708Ser, NP_001341201.1:p.Pro1670Thr, NP_001341201.1:p.Pro1670Ala, NP_001341201.1:p.Pro1670Ser, NP_001341200.1:p.Pro1618Thr, NP_001341200.1:p.Pro1618Ala, NP_001341200.1:p.Pro1618Ser, NP_001341203.1:p.Pro1635Thr, NP_001341203.1:p.Pro1635Ala, NP_001341203.1:p.Pro1635Ser, NP_001341204.1:p.Pro1659Thr, NP_001341204.1:p.Pro1659Ala, NP_001341204.1:p.Pro1659Ser, NP_001341205.1:p.Pro1651Thr, NP_001341205.1:p.Pro1651Ala, NP_001341205.1:p.Pro1651Ser, NP_001373116.1:p.Pro1668Thr, NP_001373116.1:p.Pro1668Ala, NP_001373116.1:p.Pro1668Ser, NP_001341206.1:p.Pro1585Thr, NP_001341206.1:p.Pro1585Ala, NP_001341206.1:p.Pro1585Ser, NP_001341207.1:p.Pro889Thr, NP_001341207.1:p.Pro889Ala, NP_001341207.1:p.Pro889Ser, NP_001341208.1:p.Pro901Thr, NP_001341208.1:p.Pro901Ala, NP_001341208.1:p.Pro901Ser, NP_001341209.1:p.Pro896Thr, NP_001341209.1:p.Pro896Ala, NP_001341209.1:p.Pro896Ser, NP_001341210.1:p.Pro889Thr, NP_001341210.1:p.Pro889Ala, NP_001341210.1:p.Pro889Ser, NP_001341211.1:p.Pro901Thr, NP_001341211.1:p.Pro901Ala, NP_001341211.1:p.Pro901Ser, NP_001373103.1:p.Pro3845Thr, NP_001373103.1:p.Pro3845Ala, NP_001373103.1:p.Pro3845Ser, NP_001373104.1:p.Pro3837Thr, NP_001373104.1:p.Pro3837Ala, NP_001373104.1:p.Pro3837Ser, NP_001373071.1:p.Pro3720Thr, NP_001373071.1:p.Pro3720Ala, NP_001373071.1:p.Pro3720Ser, NP_001373095.1:p.Pro2598Thr, NP_001373095.1:p.Pro2598Ala, NP_001373095.1:p.Pro2598Ser, NP_001373073.1:p.Pro1728Thr, NP_001373073.1:p.Pro1728Ala, NP_001373073.1:p.Pro1728Ser, NP_001373072.1:p.Pro1692Thr, NP_001373072.1:p.Pro1692Ala, NP_001373072.1:p.Pro1692Ser, NP_001373075.1:p.Pro1640Thr, NP_001373075.1:p.Pro1640Ala, NP_001373075.1:p.Pro1640Ser, NP_001373089.1:p.Pro1661Thr, NP_001373089.1:p.Pro1661Ala, NP_001373089.1:p.Pro1661Ser, NP_001373076.1:p.Pro1655Thr, NP_001373076.1:p.Pro1655Ala, NP_001373076.1:p.Pro1655Ser, NP_001373078.1:p.Pro1640Thr, NP_001373078.1:p.Pro1640Ala, NP_001373078.1:p.Pro1640Ser, NP_001373081.1:p.Pro1732Thr, NP_001373081.1:p.Pro1732Ala, NP_001373081.1:p.Pro1732Ser, NP_001373079.1:p.Pro1640Thr, NP_001373079.1:p.Pro1640Ala, NP_001373079.1:p.Pro1640Ser, NP_001373090.1:p.Pro1691Thr, NP_001373090.1:p.Pro1691Ala, NP_001373090.1:p.Pro1691Ser, NP_001373080.1:p.Pro1618Thr, NP_001373080.1:p.Pro1618Ala, NP_001373080.1:p.Pro1618Ser, NP_001373082.1:p.Pro1640Thr, NP_001373082.1:p.Pro1640Ala, NP_001373082.1:p.Pro1640Ser, NP_001373083.1:p.Pro1635Thr, NP_001373083.1:p.Pro1635Ala, NP_001373083.1:p.Pro1635Ser, NP_001373085.1:p.Pro1626Thr, NP_001373085.1:p.Pro1626Ala, NP_001373085.1:p.Pro1626Ser, NP_001373091.1:p.Pro1651Thr, NP_001373091.1:p.Pro1651Ala, NP_001373091.1:p.Pro1651Ser, NP_001373086.1:p.Pro1585Thr, NP_001373086.1:p.Pro1585Ala, NP_001373086.1:p.Pro1585Ser, NP_001373087.1:p.Pro1552Thr, NP_001373087.1:p.Pro1552Ala, NP_001373087.1:p.Pro1552Ser, NP_001373096.1:p.Pro513Thr, NP_001373096.1:p.Pro513Ala, NP_001373096.1:p.Pro513Ser

                        12.

                        rs1482914715 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A,C [Show Flanks]
                          Chromosome:
                          4:113333168 (GRCh38)
                          4:114254324 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:113333167:T:A,NC_000004.12:113333167:T:C
                          Gene:
                          ANK2 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                          Clinical significance:
                          likely-benign
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000004.12:g.113333168T>A, NC_000004.12:g.113333168T>C, NC_000004.11:g.114254324T>A, NC_000004.11:g.114254324T>C, NG_009006.2:g.520086T>A, NG_009006.2:g.520086T>C, NM_001148.6:c.3339T>A, NM_001148.6:c.3339T>C, NM_001148.5:c.3339T>A, NM_001148.5:c.3339T>C, NM_001148.4:c.3339T>A, NM_001148.4:c.3339T>C, NM_020977.5:c.3339T>A, NM_020977.5:c.3339T>C, NM_020977.4:c.3339T>A, NM_020977.4:c.3339T>C, NM_020977.3:c.3339T>A, NM_020977.3:c.3339T>C, NM_001127493.3:c.3312T>A, NM_001127493.3:c.3312T>C, NM_001127493.2:c.3312T>A, NM_001127493.2:c.3312T>C, NM_001127493.1:c.3312T>A, NM_001127493.1:c.3312T>C, NM_001354269.3:c.3126T>A, NM_001354269.3:c.3126T>C, NM_001354269.2:c.3126T>A, NM_001354269.2:c.3126T>C, NM_001354269.1:c.3126T>A, NM_001354269.1:c.3126T>C, NM_001354225.2:c.3351T>A, NM_001354225.2:c.3351T>C, NM_001354225.1:c.3351T>A, NM_001354225.1:c.3351T>C, NM_001354228.2:c.3240T>A, NM_001354228.2:c.3240T>C, NM_001354228.1:c.3240T>A, NM_001354228.1:c.3240T>C, NM_001354232.2:c.3375T>A, NM_001354232.2:c.3375T>C, NM_001354232.1:c.3375T>A, NM_001354232.1:c.3375T>C, NM_001354230.2:c.3318T>A, NM_001354230.2:c.3318T>C, NM_001354230.1:c.3318T>A, NM_001354230.1:c.3318T>C, NM_001354231.2:c.3381T>A, NM_001354231.2:c.3381T>C, NM_001354231.1:c.3381T>A, NM_001354231.1:c.3381T>C, NM_001354235.2:c.3336T>A, NM_001354235.2:c.3336T>C, NM_001354235.1:c.3336T>A, NM_001354235.1:c.3336T>C, NM_001354236.2:c.3237T>A, NM_001354236.2:c.3237T>C, NM_001354236.1:c.3237T>A, NM_001354236.1:c.3237T>C, NM_001354241.2:c.3384T>A, NM_001354241.2:c.3384T>C, NM_001354241.1:c.3384T>A, NM_001354241.1:c.3384T>C, NM_001354237.2:c.3417T>A, NM_001354237.2:c.3417T>C, NM_001354237.1:c.3417T>A, NM_001354237.1:c.3417T>C, NM_001354245.2:c.3177T>A, NM_001354245.2:c.3177T>C, NM_001354245.1:c.3177T>A, NM_001354245.1:c.3177T>C, NM_001354240.2:c.3384T>A, NM_001354240.2:c.3384T>C, NM_001354240.1:c.3384T>A, NM_001354240.1:c.3384T>C, NM_001354242.2:c.3381T>A, NM_001354242.2:c.3381T>C, NM_001354242.1:c.3381T>A, NM_001354242.1:c.3381T>C, NM_001354246.2:c.3336T>A, NM_001354246.2:c.3336T>C, NM_001354246.1:c.3336T>A, NM_001354246.1:c.3336T>C, NM_001354239.2:c.3309T>A, NM_001354239.2:c.3309T>C, NM_001354239.1:c.3309T>A, NM_001354239.1:c.3309T>C, NM_001354243.2:c.3276T>A, NM_001354243.2:c.3276T>C, NM_001354243.1:c.3276T>A, NM_001354243.1:c.3276T>C, NM_001354244.2:c.3273T>A, NM_001354244.2:c.3273T>C, NM_001354244.1:c.3273T>A, NM_001354244.1:c.3273T>C, NM_001354258.2:c.3240T>A, NM_001354258.2:c.3240T>C, NM_001354258.1:c.3240T>A, NM_001354258.1:c.3240T>C, NM_001354249.2:c.3153T>A, NM_001354249.2:c.3153T>C, NM_001354249.1:c.3153T>A, NM_001354249.1:c.3153T>C, NM_001354252.2:c.3309T>A, NM_001354252.2:c.3309T>C, NM_001354252.1:c.3309T>A, NM_001354252.1:c.3309T>C, NM_001354253.2:c.3114T>A, NM_001354253.2:c.3114T>C, NM_001354253.1:c.3114T>A, NM_001354253.1:c.3114T>C, NM_001354254.2:c.3288T>A, NM_001354254.2:c.3288T>C, NM_001354254.1:c.3288T>A, NM_001354254.1:c.3288T>C, NM_001354265.2:c.3336T>A, NM_001354265.2:c.3336T>C, NM_001354265.1:c.3336T>A, NM_001354265.1:c.3336T>C, NM_001354255.2:c.3276T>A, NM_001354255.2:c.3276T>C, NM_001354255.1:c.3276T>A, NM_001354255.1:c.3276T>C, NM_001354256.2:c.3273T>A, NM_001354256.2:c.3273T>C, NM_001354256.1:c.3273T>A, NM_001354256.1:c.3273T>C, NM_001354257.2:c.3078T>A, NM_001354257.2:c.3078T>C, NM_001354257.1:c.3078T>A, NM_001354257.1:c.3078T>C, NM_001354268.2:c.3141T>A, NM_001354268.2:c.3141T>C, NM_001354268.1:c.3141T>A, NM_001354268.1:c.3141T>C, NM_001386186.2:c.3324T>A, NM_001386186.2:c.3324T>C, NM_001386186.1:c.3324T>A, NM_001386186.1:c.3324T>C, NM_001354260.2:c.3054T>A, NM_001354260.2:c.3054T>C, NM_001354260.1:c.3054T>A, NM_001354260.1:c.3054T>C, NM_001354261.2:c.3198T>A, NM_001354261.2:c.3198T>C, NM_001354261.1:c.3198T>A, NM_001354261.1:c.3198T>C, NM_001354262.2:c.3177T>A, NM_001354262.2:c.3177T>C, NM_001354262.1:c.3177T>A, NM_001354262.1:c.3177T>C, NM_001354264.2:c.3153T>A, NM_001354264.2:c.3153T>C, NM_001354264.1:c.3153T>A, NM_001354264.1:c.3153T>C, NM_001354273.2:c.3039T>A, NM_001354273.2:c.3039T>C, NM_001354273.1:c.3039T>A, NM_001354273.1:c.3039T>C, NM_001354266.2:c.3153T>A, NM_001354266.2:c.3153T>C, NM_001354266.1:c.3153T>A, NM_001354266.1:c.3153T>C, NM_001354267.2:c.3153T>A, NM_001354267.2:c.3153T>C, NM_001354267.1:c.3153T>A, NM_001354267.1:c.3153T>C, NM_001354270.2:c.3114T>A, NM_001354270.2:c.3114T>C, NM_001354270.1:c.3114T>A, NM_001354270.1:c.3114T>C, NM_001386148.2:c.3324T>A, NM_001386148.2:c.3324T>C, NM_001386148.1:c.3324T>A, NM_001386148.1:c.3324T>C, NM_001354272.2:c.3210T>A, NM_001354272.2:c.3210T>C, NM_001354272.1:c.3210T>A, NM_001354272.1:c.3210T>C, NM_001354271.2:c.3054T>A, NM_001354271.2:c.3054T>C, NM_001354271.1:c.3054T>A, NM_001354271.1:c.3054T>C, NM_001354274.2:c.3138T>A, NM_001354274.2:c.3138T>C, NM_001354274.1:c.3138T>A, NM_001354274.1:c.3138T>C, NM_001354275.2:c.3177T>A, NM_001354275.2:c.3177T>C, NM_001354275.1:c.3177T>A, NM_001354275.1:c.3177T>C, NM_001354276.2:c.3153T>A, NM_001354276.2:c.3153T>C, NM_001354276.1:c.3153T>A, NM_001354276.1:c.3153T>C, NM_001386187.2:c.3204T>A, NM_001386187.2:c.3204T>C, NM_001386187.1:c.3204T>A, NM_001386187.1:c.3204T>C, NM_001354277.2:c.2955T>A, NM_001354277.2:c.2955T>C, NM_001354277.1:c.2955T>A, NM_001354277.1:c.2955T>C, NM_001354278.2:c.867T>A, NM_001354278.2:c.867T>C, NM_001354278.1:c.867T>A, NM_001354278.1:c.867T>C, NM_001354279.2:c.903T>A, NM_001354279.2:c.903T>C, NM_001354279.1:c.903T>A, NM_001354279.1:c.903T>C, NM_001354280.2:c.867T>A, NM_001354280.2:c.867T>C, NM_001354280.1:c.867T>A, NM_001354280.1:c.867T>C, NM_001354281.2:c.867T>A, NM_001354281.2:c.867T>C, NM_001354281.1:c.867T>A, NM_001354281.1:c.867T>C, NM_001354282.2:c.903T>A, NM_001354282.2:c.903T>C, NM_001354282.1:c.903T>A, NM_001354282.1:c.903T>C, NM_001386174.1:c.3480T>A, NM_001386174.1:c.3480T>C, NM_001386175.1:c.3456T>A, NM_001386175.1:c.3456T>C, NM_001386142.1:c.3138T>A, NM_001386142.1:c.3138T>C, NM_001386144.1:c.3384T>A, NM_001386144.1:c.3384T>C, NM_001386143.1:c.3276T>A, NM_001386143.1:c.3276T>C, NM_001386146.1:c.3153T>A, NM_001386146.1:c.3153T>C, NM_001386160.1:c.3183T>A, NM_001386160.1:c.3183T>C, NM_001386147.1:c.3198T>A, NM_001386147.1:c.3198T>C, NM_001386149.1:c.3153T>A, NM_001386149.1:c.3153T>C, NM_001386152.1:c.3396T>A, NM_001386152.1:c.3396T>C, NM_001386150.1:c.3153T>A, NM_001386150.1:c.3153T>C, NM_001386161.1:c.3273T>A, NM_001386161.1:c.3273T>C, NM_001386151.1:c.3054T>A, NM_001386151.1:c.3054T>C, NM_001386153.1:c.3153T>A, NM_001386153.1:c.3153T>C, NM_001386154.1:c.3138T>A, NM_001386154.1:c.3138T>C, NM_001386156.1:c.3078T>A, NM_001386156.1:c.3078T>C, NM_001386162.1:c.3153T>A, NM_001386162.1:c.3153T>C, NM_001386157.1:c.2955T>A, NM_001386157.1:c.2955T>C, NM_001386158.1:c.2856T>A, NM_001386158.1:c.2856T>C, NM_001386173.1:c.3378T>A, NM_001386173.1:c.3378T>C

                          13.

                          rs1482506474 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,G,T [Show Flanks]
                            Chromosome:
                            4:113274558 (GRCh38)
                            4:114195714 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:113274557:A:C,NC_000004.12:113274557:A:G,NC_000004.12:113274557:A:T
                            Gene:
                            ANK2 (Varview)
                            Functional Consequence:
                            missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000071/1 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000004.12:g.113274558A>C, NC_000004.12:g.113274558A>G, NC_000004.12:g.113274558A>T, NC_000004.11:g.114195714A>C, NC_000004.11:g.114195714A>G, NC_000004.11:g.114195714A>T, NG_009006.2:g.461476A>C, NG_009006.2:g.461476A>G, NG_009006.2:g.461476A>T, NM_001148.6:c.1592A>C, NM_001148.6:c.1592A>G, NM_001148.6:c.1592A>T, NM_001148.5:c.1592A>C, NM_001148.5:c.1592A>G, NM_001148.5:c.1592A>T, NM_001148.4:c.1592A>C, NM_001148.4:c.1592A>G, NM_001148.4:c.1592A>T, NM_020977.5:c.1592A>C, NM_020977.5:c.1592A>G, NM_020977.5:c.1592A>T, NM_020977.4:c.1592A>C, NM_020977.4:c.1592A>G, NM_020977.4:c.1592A>T, NM_020977.3:c.1592A>C, NM_020977.3:c.1592A>G, NM_020977.3:c.1592A>T, NM_001127493.3:c.1529A>C, NM_001127493.3:c.1529A>G, NM_001127493.3:c.1529A>T, NM_001127493.2:c.1529A>C, NM_001127493.2:c.1529A>G, NM_001127493.2:c.1529A>T, NM_001127493.1:c.1529A>C, NM_001127493.1:c.1529A>G, NM_001127493.1:c.1529A>T, NM_001354269.3:c.1382A>C, NM_001354269.3:c.1382A>G, NM_001354269.3:c.1382A>T, NM_001354269.2:c.1382A>C, NM_001354269.2:c.1382A>G, NM_001354269.2:c.1382A>T, NM_001354269.1:c.1382A>C, NM_001354269.1:c.1382A>G, NM_001354269.1:c.1382A>T, NM_001354225.2:c.1592A>C, NM_001354225.2:c.1592A>G, NM_001354225.2:c.1592A>T, NM_001354225.1:c.1592A>C, NM_001354225.1:c.1592A>G, NM_001354225.1:c.1592A>T, NM_001354228.2:c.1592A>C, NM_001354228.2:c.1592A>G, NM_001354228.2:c.1592A>T, NM_001354228.1:c.1592A>C, NM_001354228.1:c.1592A>G, NM_001354228.1:c.1592A>T, NM_001354232.2:c.1592A>C, NM_001354232.2:c.1592A>G, NM_001354232.2:c.1592A>T, NM_001354232.1:c.1592A>C, NM_001354232.1:c.1592A>G, NM_001354232.1:c.1592A>T, NM_001354230.2:c.1637A>C, NM_001354230.2:c.1637A>G, NM_001354230.2:c.1637A>T, NM_001354230.1:c.1637A>C, NM_001354230.1:c.1637A>G, NM_001354230.1:c.1637A>T, NM_001354231.2:c.1637A>C, NM_001354231.2:c.1637A>G, NM_001354231.2:c.1637A>T, NM_001354231.1:c.1637A>C, NM_001354231.1:c.1637A>G, NM_001354231.1:c.1637A>T, NM_001354235.2:c.1592A>C, NM_001354235.2:c.1592A>G, NM_001354235.2:c.1592A>T, NM_001354235.1:c.1592A>C, NM_001354235.1:c.1592A>G, NM_001354235.1:c.1592A>T, NM_001354236.2:c.1592A>C, NM_001354236.2:c.1592A>G, NM_001354236.2:c.1592A>T, NM_001354236.1:c.1592A>C, NM_001354236.1:c.1592A>G, NM_001354236.1:c.1592A>T, NM_001354241.2:c.1637A>C, NM_001354241.2:c.1637A>G, NM_001354241.2:c.1637A>T, NM_001354241.1:c.1637A>C, NM_001354241.1:c.1637A>G, NM_001354241.1:c.1637A>T, NM_001354237.2:c.1637A>C, NM_001354237.2:c.1637A>G, NM_001354237.2:c.1637A>T, NM_001354237.1:c.1637A>C, NM_001354237.1:c.1637A>G, NM_001354237.1:c.1637A>T, NM_001354245.2:c.1592A>C, NM_001354245.2:c.1592A>G, NM_001354245.2:c.1592A>T, NM_001354245.1:c.1592A>C, NM_001354245.1:c.1592A>G, NM_001354245.1:c.1592A>T, NM_001354240.2:c.1637A>C, NM_001354240.2:c.1637A>G, NM_001354240.2:c.1637A>T, NM_001354240.1:c.1637A>C, NM_001354240.1:c.1637A>G, NM_001354240.1:c.1637A>T, NM_001354242.2:c.1637A>C, NM_001354242.2:c.1637A>G, NM_001354242.2:c.1637A>T, NM_001354242.1:c.1637A>C, NM_001354242.1:c.1637A>G, NM_001354242.1:c.1637A>T, NM_001354246.2:c.1592A>C, NM_001354246.2:c.1592A>G, NM_001354246.2:c.1592A>T, NM_001354246.1:c.1592A>C, NM_001354246.1:c.1592A>G, NM_001354246.1:c.1592A>T, NM_001354239.2:c.1529A>C, NM_001354239.2:c.1529A>G, NM_001354239.2:c.1529A>T, NM_001354239.1:c.1529A>C, NM_001354239.1:c.1529A>G, NM_001354239.1:c.1529A>T, NM_001354243.2:c.1529A>C, NM_001354243.2:c.1529A>G, NM_001354243.2:c.1529A>T, NM_001354243.1:c.1529A>C, NM_001354243.1:c.1529A>G, NM_001354243.1:c.1529A>T, NM_001354244.2:c.1529A>C, NM_001354244.2:c.1529A>G, NM_001354244.2:c.1529A>T, NM_001354244.1:c.1529A>C, NM_001354244.1:c.1529A>G, NM_001354244.1:c.1529A>T, NM_001354258.2:c.1592A>C, NM_001354258.2:c.1592A>G, NM_001354258.2:c.1592A>T, NM_001354258.1:c.1592A>C, NM_001354258.1:c.1592A>G, NM_001354258.1:c.1592A>T, NM_001354249.2:c.1505A>C, NM_001354249.2:c.1505A>G, NM_001354249.2:c.1505A>T, NM_001354249.1:c.1505A>C, NM_001354249.1:c.1505A>G, NM_001354249.1:c.1505A>T, NM_001354252.2:c.1529A>C, NM_001354252.2:c.1529A>G, NM_001354252.2:c.1529A>T, NM_001354252.1:c.1529A>C, NM_001354252.1:c.1529A>G, NM_001354252.1:c.1529A>T, NM_001354253.2:c.1529A>C, NM_001354253.2:c.1529A>G, NM_001354253.2:c.1529A>T, NM_001354253.1:c.1529A>C, NM_001354253.1:c.1529A>G, NM_001354253.1:c.1529A>T, NM_001354254.2:c.1529A>C, NM_001354254.2:c.1529A>G, NM_001354254.2:c.1529A>T, NM_001354254.1:c.1529A>C, NM_001354254.1:c.1529A>G, NM_001354254.1:c.1529A>T, NM_001354265.2:c.1592A>C, NM_001354265.2:c.1592A>G, NM_001354265.2:c.1592A>T, NM_001354265.1:c.1592A>C, NM_001354265.1:c.1592A>G, NM_001354265.1:c.1592A>T, NM_001354255.2:c.1529A>C, NM_001354255.2:c.1529A>G, NM_001354255.2:c.1529A>T, NM_001354255.1:c.1529A>C, NM_001354255.1:c.1529A>G, NM_001354255.1:c.1529A>T, NM_001354256.2:c.1529A>C, NM_001354256.2:c.1529A>G, NM_001354256.2:c.1529A>T, NM_001354256.1:c.1529A>C, NM_001354256.1:c.1529A>G, NM_001354256.1:c.1529A>T, NM_001354257.2:c.1529A>C, NM_001354257.2:c.1529A>G, NM_001354257.2:c.1529A>T, NM_001354257.1:c.1529A>C, NM_001354257.1:c.1529A>G, NM_001354257.1:c.1529A>T, NM_001354268.2:c.1592A>C, NM_001354268.2:c.1592A>G, NM_001354268.2:c.1592A>T, NM_001354268.1:c.1592A>C, NM_001354268.1:c.1592A>G, NM_001354268.1:c.1592A>T, NM_001386186.2:c.1580A>C, NM_001386186.2:c.1580A>G, NM_001386186.2:c.1580A>T, NM_001386186.1:c.1580A>C, NM_001386186.1:c.1580A>G, NM_001386186.1:c.1580A>T, NM_001354260.2:c.1505A>C, NM_001354260.2:c.1505A>G, NM_001354260.2:c.1505A>T, NM_001354260.1:c.1505A>C, NM_001354260.1:c.1505A>G, NM_001354260.1:c.1505A>T, NM_001354261.2:c.1550A>C, NM_001354261.2:c.1550A>G, NM_001354261.2:c.1550A>T, NM_001354261.1:c.1550A>C, NM_001354261.1:c.1550A>G, NM_001354261.1:c.1550A>T, NM_001354262.2:c.1529A>C, NM_001354262.2:c.1529A>G, NM_001354262.2:c.1529A>T, NM_001354262.1:c.1529A>C, NM_001354262.1:c.1529A>G, NM_001354262.1:c.1529A>T, NM_001354264.2:c.1505A>C, NM_001354264.2:c.1505A>G, NM_001354264.2:c.1505A>T, NM_001354264.1:c.1505A>C, NM_001354264.1:c.1505A>G, NM_001354264.1:c.1505A>T, NM_001354273.2:c.1394A>C, NM_001354273.2:c.1394A>G, NM_001354273.2:c.1394A>T, NM_001354273.1:c.1394A>C, NM_001354273.1:c.1394A>G, NM_001354273.1:c.1394A>T, NM_001354266.2:c.1505A>C, NM_001354266.2:c.1505A>G, NM_001354266.2:c.1505A>T, NM_001354266.1:c.1505A>C, NM_001354266.1:c.1505A>G, NM_001354266.1:c.1505A>T, NM_001354267.2:c.1505A>C, NM_001354267.2:c.1505A>G, NM_001354267.2:c.1505A>T, NM_001354267.1:c.1505A>C, NM_001354267.1:c.1505A>G, NM_001354267.1:c.1505A>T, NM_001354270.2:c.1529A>C, NM_001354270.2:c.1529A>G, NM_001354270.2:c.1529A>T, NM_001354270.1:c.1529A>C, NM_001354270.1:c.1529A>G, NM_001354270.1:c.1529A>T, NM_001386148.2:c.1580A>C, NM_001386148.2:c.1580A>G, NM_001386148.2:c.1580A>T, NM_001386148.1:c.1580A>C, NM_001386148.1:c.1580A>G, NM_001386148.1:c.1580A>T, NM_001354272.2:c.1529A>C, NM_001354272.2:c.1529A>G, NM_001354272.2:c.1529A>T, NM_001354272.1:c.1529A>C, NM_001354272.1:c.1529A>G, NM_001354272.1:c.1529A>T, NM_001354271.2:c.1505A>C, NM_001354271.2:c.1505A>G, NM_001354271.2:c.1505A>T, NM_001354271.1:c.1505A>C, NM_001354271.1:c.1505A>G, NM_001354271.1:c.1505A>T, NM_001354274.2:c.1505A>C, NM_001354274.2:c.1505A>G, NM_001354274.2:c.1505A>T, NM_001354274.1:c.1505A>C, NM_001354274.1:c.1505A>G, NM_001354274.1:c.1505A>T, NM_001354275.2:c.1529A>C, NM_001354275.2:c.1529A>G, NM_001354275.2:c.1529A>T, NM_001354275.1:c.1529A>C, NM_001354275.1:c.1529A>G, NM_001354275.1:c.1529A>T, NM_001354276.2:c.1505A>C, NM_001354276.2:c.1505A>G, NM_001354276.2:c.1505A>T, NM_001354276.1:c.1505A>C, NM_001354276.1:c.1505A>G, NM_001354276.1:c.1505A>T, NM_001386187.2:c.1556A>C, NM_001386187.2:c.1556A>G, NM_001386187.2:c.1556A>T, NM_001386187.1:c.1556A>C, NM_001386187.1:c.1556A>G, NM_001386187.1:c.1556A>T, NM_001354277.2:c.1307A>C, NM_001354277.2:c.1307A>G, NM_001354277.2:c.1307A>T, NM_001354277.1:c.1307A>C, NM_001354277.1:c.1307A>G, NM_001354277.1:c.1307A>T, NM_001386174.1:c.1643A>C, NM_001386174.1:c.1643A>G, NM_001386174.1:c.1643A>T, NM_001386175.1:c.1619A>C, NM_001386175.1:c.1619A>G, NM_001386175.1:c.1619A>T, NM_001386142.1:c.1505A>C, NM_001386142.1:c.1505A>G, NM_001386142.1:c.1505A>T, NM_001386144.1:c.1637A>C, NM_001386144.1:c.1637A>G, NM_001386144.1:c.1637A>T, NM_001386143.1:c.1529A>C, NM_001386143.1:c.1529A>G, NM_001386143.1:c.1529A>T, NM_001386146.1:c.1505A>C, NM_001386146.1:c.1505A>G, NM_001386146.1:c.1505A>T, NM_001386160.1:c.1550A>C, NM_001386160.1:c.1550A>G, NM_001386160.1:c.1550A>T, NM_001386147.1:c.1550A>C, NM_001386147.1:c.1550A>G, NM_001386147.1:c.1550A>T, NM_001386149.1:c.1505A>C, NM_001386149.1:c.1505A>G, NM_001386149.1:c.1505A>T, NM_001386152.1:c.1637A>C, NM_001386152.1:c.1637A>G, NM_001386152.1:c.1637A>T, NM_001386150.1:c.1505A>C, NM_001386150.1:c.1505A>G, NM_001386150.1:c.1505A>T, NM_001386161.1:c.1529A>C, NM_001386161.1:c.1529A>G, NM_001386161.1:c.1529A>T, NM_001386151.1:c.1505A>C, NM_001386151.1:c.1505A>G, NM_001386151.1:c.1505A>T, NM_001386153.1:c.1505A>C, NM_001386153.1:c.1505A>G, NM_001386153.1:c.1505A>T, NM_001386154.1:c.1505A>C, NM_001386154.1:c.1505A>G, NM_001386154.1:c.1505A>T, NM_001386156.1:c.1529A>C, NM_001386156.1:c.1529A>G, NM_001386156.1:c.1529A>T, NM_001386162.1:c.1505A>C, NM_001386162.1:c.1505A>G, NM_001386162.1:c.1505A>T, NM_001386157.1:c.1307A>C, NM_001386157.1:c.1307A>G, NM_001386157.1:c.1307A>T, NM_001386158.1:c.1307A>C, NM_001386158.1:c.1307A>G, NM_001386158.1:c.1307A>T, NM_001386173.1:c.1529A>C, NM_001386173.1:c.1529A>G, NM_001386173.1:c.1529A>T, NP_001139.3:p.Tyr531Ser, NP_001139.3:p.Tyr531Cys, NP_001139.3:p.Tyr531Phe, NP_066187.2:p.Tyr531Ser, NP_066187.2:p.Tyr531Cys, NP_066187.2:p.Tyr531Phe, NP_001120965.1:p.Tyr510Ser, NP_001120965.1:p.Tyr510Cys, NP_001120965.1:p.Tyr510Phe, NP_001341198.1:p.Tyr461Ser, NP_001341198.1:p.Tyr461Cys, NP_001341198.1:p.Tyr461Phe, NP_001341154.1:p.Tyr531Ser, NP_001341154.1:p.Tyr531Cys, NP_001341154.1:p.Tyr531Phe, NP_001341157.1:p.Tyr531Ser, NP_001341157.1:p.Tyr531Cys, NP_001341157.1:p.Tyr531Phe, NP_001341161.1:p.Tyr531Ser, NP_001341161.1:p.Tyr531Cys, NP_001341161.1:p.Tyr531Phe, NP_001341159.1:p.Tyr546Ser, NP_001341159.1:p.Tyr546Cys, NP_001341159.1:p.Tyr546Phe, NP_001341160.1:p.Tyr546Ser, NP_001341160.1:p.Tyr546Cys, NP_001341160.1:p.Tyr546Phe, NP_001341164.1:p.Tyr531Ser, NP_001341164.1:p.Tyr531Cys, NP_001341164.1:p.Tyr531Phe, NP_001341165.1:p.Tyr531Ser, NP_001341165.1:p.Tyr531Cys, NP_001341165.1:p.Tyr531Phe, NP_001341170.1:p.Tyr546Ser, NP_001341170.1:p.Tyr546Cys, NP_001341170.1:p.Tyr546Phe, NP_001341166.1:p.Tyr546Ser, NP_001341166.1:p.Tyr546Cys, NP_001341166.1:p.Tyr546Phe, NP_001341174.1:p.Tyr531Ser, NP_001341174.1:p.Tyr531Cys, NP_001341174.1:p.Tyr531Phe, NP_001341169.1:p.Tyr546Ser, NP_001341169.1:p.Tyr546Cys, NP_001341169.1:p.Tyr546Phe, NP_001341171.1:p.Tyr546Ser, NP_001341171.1:p.Tyr546Cys, NP_001341171.1:p.Tyr546Phe, NP_001341175.1:p.Tyr531Ser, NP_001341175.1:p.Tyr531Cys, NP_001341175.1:p.Tyr531Phe, NP_001341168.1:p.Tyr510Ser, NP_001341168.1:p.Tyr510Cys, NP_001341168.1:p.Tyr510Phe, NP_001341172.1:p.Tyr510Ser, NP_001341172.1:p.Tyr510Cys, NP_001341172.1:p.Tyr510Phe, NP_001341173.1:p.Tyr510Ser, NP_001341173.1:p.Tyr510Cys, NP_001341173.1:p.Tyr510Phe, NP_001341187.1:p.Tyr531Ser, NP_001341187.1:p.Tyr531Cys, NP_001341187.1:p.Tyr531Phe, NP_001341178.1:p.Tyr502Ser, NP_001341178.1:p.Tyr502Cys, NP_001341178.1:p.Tyr502Phe, NP_001341181.1:p.Tyr510Ser, NP_001341181.1:p.Tyr510Cys, NP_001341181.1:p.Tyr510Phe, NP_001341182.1:p.Tyr510Ser, NP_001341182.1:p.Tyr510Cys, NP_001341182.1:p.Tyr510Phe, NP_001341183.1:p.Tyr510Ser, NP_001341183.1:p.Tyr510Cys, NP_001341183.1:p.Tyr510Phe, NP_001341194.1:p.Tyr531Ser, NP_001341194.1:p.Tyr531Cys, NP_001341194.1:p.Tyr531Phe, NP_001341184.1:p.Tyr510Ser, NP_001341184.1:p.Tyr510Cys, NP_001341184.1:p.Tyr510Phe, NP_001341185.1:p.Tyr510Ser, NP_001341185.1:p.Tyr510Cys, NP_001341185.1:p.Tyr510Phe, NP_001341186.1:p.Tyr510Ser, NP_001341186.1:p.Tyr510Cys, NP_001341186.1:p.Tyr510Phe, NP_001341197.1:p.Tyr531Ser, NP_001341197.1:p.Tyr531Cys, NP_001341197.1:p.Tyr531Phe, NP_001373115.1:p.Tyr527Ser, NP_001373115.1:p.Tyr527Cys, NP_001373115.1:p.Tyr527Phe, NP_001341189.1:p.Tyr502Ser, NP_001341189.1:p.Tyr502Cys, NP_001341189.1:p.Tyr502Phe, NP_001341190.1:p.Tyr517Ser, NP_001341190.1:p.Tyr517Cys, NP_001341190.1:p.Tyr517Phe, NP_001341191.1:p.Tyr510Ser, NP_001341191.1:p.Tyr510Cys, NP_001341191.1:p.Tyr510Phe, NP_001341193.1:p.Tyr502Ser, NP_001341193.1:p.Tyr502Cys, NP_001341193.1:p.Tyr502Phe, NP_001341202.1:p.Tyr465Ser, NP_001341202.1:p.Tyr465Cys, NP_001341202.1:p.Tyr465Phe, NP_001341195.1:p.Tyr502Ser, NP_001341195.1:p.Tyr502Cys, NP_001341195.1:p.Tyr502Phe, NP_001341196.1:p.Tyr502Ser, NP_001341196.1:p.Tyr502Cys, NP_001341196.1:p.Tyr502Phe, NP_001341199.1:p.Tyr510Ser, NP_001341199.1:p.Tyr510Cys, NP_001341199.1:p.Tyr510Phe, NP_001373077.1:p.Tyr527Ser, NP_001373077.1:p.Tyr527Cys, NP_001373077.1:p.Tyr527Phe, NP_001341201.1:p.Tyr510Ser, NP_001341201.1:p.Tyr510Cys, NP_001341201.1:p.Tyr510Phe, NP_001341200.1:p.Tyr502Ser, NP_001341200.1:p.Tyr502Cys, NP_001341200.1:p.Tyr502Phe, NP_001341203.1:p.Tyr502Ser, NP_001341203.1:p.Tyr502Cys, NP_001341203.1:p.Tyr502Phe, NP_001341204.1:p.Tyr510Ser, NP_001341204.1:p.Tyr510Cys, NP_001341204.1:p.Tyr510Phe, NP_001341205.1:p.Tyr502Ser, NP_001341205.1:p.Tyr502Cys, NP_001341205.1:p.Tyr502Phe, NP_001373116.1:p.Tyr519Ser, NP_001373116.1:p.Tyr519Cys, NP_001373116.1:p.Tyr519Phe, NP_001341206.1:p.Tyr436Ser, NP_001341206.1:p.Tyr436Cys, NP_001341206.1:p.Tyr436Phe, NP_001373103.1:p.Tyr548Ser, NP_001373103.1:p.Tyr548Cys, NP_001373103.1:p.Tyr548Phe, NP_001373104.1:p.Tyr540Ser, NP_001373104.1:p.Tyr540Cys, NP_001373104.1:p.Tyr540Phe, NP_001373071.1:p.Tyr502Ser, NP_001373071.1:p.Tyr502Cys, NP_001373071.1:p.Tyr502Phe, NP_001373073.1:p.Tyr546Ser, NP_001373073.1:p.Tyr546Cys, NP_001373073.1:p.Tyr546Phe, NP_001373072.1:p.Tyr510Ser, NP_001373072.1:p.Tyr510Cys, NP_001373072.1:p.Tyr510Phe, NP_001373075.1:p.Tyr502Ser, NP_001373075.1:p.Tyr502Cys, NP_001373075.1:p.Tyr502Phe, NP_001373089.1:p.Tyr517Ser, NP_001373089.1:p.Tyr517Cys, NP_001373089.1:p.Tyr517Phe, NP_001373076.1:p.Tyr517Ser, NP_001373076.1:p.Tyr517Cys, NP_001373076.1:p.Tyr517Phe, NP_001373078.1:p.Tyr502Ser, NP_001373078.1:p.Tyr502Cys, NP_001373078.1:p.Tyr502Phe, NP_001373081.1:p.Tyr546Ser, NP_001373081.1:p.Tyr546Cys, NP_001373081.1:p.Tyr546Phe, NP_001373079.1:p.Tyr502Ser, NP_001373079.1:p.Tyr502Cys, NP_001373079.1:p.Tyr502Phe, NP_001373090.1:p.Tyr510Ser, NP_001373090.1:p.Tyr510Cys, NP_001373090.1:p.Tyr510Phe, NP_001373080.1:p.Tyr502Ser, NP_001373080.1:p.Tyr502Cys, NP_001373080.1:p.Tyr502Phe, NP_001373082.1:p.Tyr502Ser, NP_001373082.1:p.Tyr502Cys, NP_001373082.1:p.Tyr502Phe, NP_001373083.1:p.Tyr502Ser, NP_001373083.1:p.Tyr502Cys, NP_001373083.1:p.Tyr502Phe, NP_001373085.1:p.Tyr510Ser, NP_001373085.1:p.Tyr510Cys, NP_001373085.1:p.Tyr510Phe, NP_001373091.1:p.Tyr502Ser, NP_001373091.1:p.Tyr502Cys, NP_001373091.1:p.Tyr502Phe, NP_001373086.1:p.Tyr436Ser, NP_001373086.1:p.Tyr436Cys, NP_001373086.1:p.Tyr436Phe, NP_001373087.1:p.Tyr436Ser, NP_001373087.1:p.Tyr436Cys, NP_001373087.1:p.Tyr436Phe

                            14.

                            rs1479762951 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              4:113274534 (GRCh38)
                              4:114195690 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:113274533:C:G,NC_000004.12:113274533:C:T
                              Gene:
                              ANK2 (Varview)
                              Functional Consequence:
                              missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000047/1 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000004.12:g.113274534C>G, NC_000004.12:g.113274534C>T, NC_000004.11:g.114195690C>G, NC_000004.11:g.114195690C>T, NG_009006.2:g.461452C>G, NG_009006.2:g.461452C>T, NM_001148.6:c.1568C>G, NM_001148.6:c.1568C>T, NM_001148.5:c.1568C>G, NM_001148.5:c.1568C>T, NM_001148.4:c.1568C>G, NM_001148.4:c.1568C>T, NM_020977.5:c.1568C>G, NM_020977.5:c.1568C>T, NM_020977.4:c.1568C>G, NM_020977.4:c.1568C>T, NM_020977.3:c.1568C>G, NM_020977.3:c.1568C>T, NM_001127493.3:c.1505C>G, NM_001127493.3:c.1505C>T, NM_001127493.2:c.1505C>G, NM_001127493.2:c.1505C>T, NM_001127493.1:c.1505C>G, NM_001127493.1:c.1505C>T, NM_001354269.3:c.1358C>G, NM_001354269.3:c.1358C>T, NM_001354269.2:c.1358C>G, NM_001354269.2:c.1358C>T, NM_001354269.1:c.1358C>G, NM_001354269.1:c.1358C>T, NM_001354225.2:c.1568C>G, NM_001354225.2:c.1568C>T, NM_001354225.1:c.1568C>G, NM_001354225.1:c.1568C>T, NM_001354228.2:c.1568C>G, NM_001354228.2:c.1568C>T, NM_001354228.1:c.1568C>G, NM_001354228.1:c.1568C>T, NM_001354232.2:c.1568C>G, NM_001354232.2:c.1568C>T, NM_001354232.1:c.1568C>G, NM_001354232.1:c.1568C>T, NM_001354230.2:c.1613C>G, NM_001354230.2:c.1613C>T, NM_001354230.1:c.1613C>G, NM_001354230.1:c.1613C>T, NM_001354231.2:c.1613C>G, NM_001354231.2:c.1613C>T, NM_001354231.1:c.1613C>G, NM_001354231.1:c.1613C>T, NM_001354235.2:c.1568C>G, NM_001354235.2:c.1568C>T, NM_001354235.1:c.1568C>G, NM_001354235.1:c.1568C>T, NM_001354236.2:c.1568C>G, NM_001354236.2:c.1568C>T, NM_001354236.1:c.1568C>G, NM_001354236.1:c.1568C>T, NM_001354241.2:c.1613C>G, NM_001354241.2:c.1613C>T, NM_001354241.1:c.1613C>G, NM_001354241.1:c.1613C>T, NM_001354237.2:c.1613C>G, NM_001354237.2:c.1613C>T, NM_001354237.1:c.1613C>G, NM_001354237.1:c.1613C>T, NM_001354245.2:c.1568C>G, NM_001354245.2:c.1568C>T, NM_001354245.1:c.1568C>G, NM_001354245.1:c.1568C>T, NM_001354240.2:c.1613C>G, NM_001354240.2:c.1613C>T, NM_001354240.1:c.1613C>G, NM_001354240.1:c.1613C>T, NM_001354242.2:c.1613C>G, NM_001354242.2:c.1613C>T, NM_001354242.1:c.1613C>G, NM_001354242.1:c.1613C>T, NM_001354246.2:c.1568C>G, NM_001354246.2:c.1568C>T, NM_001354246.1:c.1568C>G, NM_001354246.1:c.1568C>T, NM_001354239.2:c.1505C>G, NM_001354239.2:c.1505C>T, NM_001354239.1:c.1505C>G, NM_001354239.1:c.1505C>T, NM_001354243.2:c.1505C>G, NM_001354243.2:c.1505C>T, NM_001354243.1:c.1505C>G, NM_001354243.1:c.1505C>T, NM_001354244.2:c.1505C>G, NM_001354244.2:c.1505C>T, NM_001354244.1:c.1505C>G, NM_001354244.1:c.1505C>T, NM_001354258.2:c.1568C>G, NM_001354258.2:c.1568C>T, NM_001354258.1:c.1568C>G, NM_001354258.1:c.1568C>T, NM_001354249.2:c.1481C>G, NM_001354249.2:c.1481C>T, NM_001354249.1:c.1481C>G, NM_001354249.1:c.1481C>T, NM_001354252.2:c.1505C>G, NM_001354252.2:c.1505C>T, NM_001354252.1:c.1505C>G, NM_001354252.1:c.1505C>T, NM_001354253.2:c.1505C>G, NM_001354253.2:c.1505C>T, NM_001354253.1:c.1505C>G, NM_001354253.1:c.1505C>T, NM_001354254.2:c.1505C>G, NM_001354254.2:c.1505C>T, NM_001354254.1:c.1505C>G, NM_001354254.1:c.1505C>T, NM_001354265.2:c.1568C>G, NM_001354265.2:c.1568C>T, NM_001354265.1:c.1568C>G, NM_001354265.1:c.1568C>T, NM_001354255.2:c.1505C>G, NM_001354255.2:c.1505C>T, NM_001354255.1:c.1505C>G, NM_001354255.1:c.1505C>T, NM_001354256.2:c.1505C>G, NM_001354256.2:c.1505C>T, NM_001354256.1:c.1505C>G, NM_001354256.1:c.1505C>T, NM_001354257.2:c.1505C>G, NM_001354257.2:c.1505C>T, NM_001354257.1:c.1505C>G, NM_001354257.1:c.1505C>T, NM_001354268.2:c.1568C>G, NM_001354268.2:c.1568C>T, NM_001354268.1:c.1568C>G, NM_001354268.1:c.1568C>T, NM_001386186.2:c.1556C>G, NM_001386186.2:c.1556C>T, NM_001386186.1:c.1556C>G, NM_001386186.1:c.1556C>T, NM_001354260.2:c.1481C>G, NM_001354260.2:c.1481C>T, NM_001354260.1:c.1481C>G, NM_001354260.1:c.1481C>T, NM_001354261.2:c.1526C>G, NM_001354261.2:c.1526C>T, NM_001354261.1:c.1526C>G, NM_001354261.1:c.1526C>T, NM_001354262.2:c.1505C>G, NM_001354262.2:c.1505C>T, NM_001354262.1:c.1505C>G, NM_001354262.1:c.1505C>T, NM_001354264.2:c.1481C>G, NM_001354264.2:c.1481C>T, NM_001354264.1:c.1481C>G, NM_001354264.1:c.1481C>T, NM_001354273.2:c.1370C>G, NM_001354273.2:c.1370C>T, NM_001354273.1:c.1370C>G, NM_001354273.1:c.1370C>T, NM_001354266.2:c.1481C>G, NM_001354266.2:c.1481C>T, NM_001354266.1:c.1481C>G, NM_001354266.1:c.1481C>T, NM_001354267.2:c.1481C>G, NM_001354267.2:c.1481C>T, NM_001354267.1:c.1481C>G, NM_001354267.1:c.1481C>T, NM_001354270.2:c.1505C>G, NM_001354270.2:c.1505C>T, NM_001354270.1:c.1505C>G, NM_001354270.1:c.1505C>T, NM_001386148.2:c.1556C>G, NM_001386148.2:c.1556C>T, NM_001386148.1:c.1556C>G, NM_001386148.1:c.1556C>T, NM_001354272.2:c.1505C>G, NM_001354272.2:c.1505C>T, NM_001354272.1:c.1505C>G, NM_001354272.1:c.1505C>T, NM_001354271.2:c.1481C>G, NM_001354271.2:c.1481C>T, NM_001354271.1:c.1481C>G, NM_001354271.1:c.1481C>T, NM_001354274.2:c.1481C>G, NM_001354274.2:c.1481C>T, NM_001354274.1:c.1481C>G, NM_001354274.1:c.1481C>T, NM_001354275.2:c.1505C>G, NM_001354275.2:c.1505C>T, NM_001354275.1:c.1505C>G, NM_001354275.1:c.1505C>T, NM_001354276.2:c.1481C>G, NM_001354276.2:c.1481C>T, NM_001354276.1:c.1481C>G, NM_001354276.1:c.1481C>T, NM_001386187.2:c.1532C>G, NM_001386187.2:c.1532C>T, NM_001386187.1:c.1532C>G, NM_001386187.1:c.1532C>T, NM_001354277.2:c.1283C>G, NM_001354277.2:c.1283C>T, NM_001354277.1:c.1283C>G, NM_001354277.1:c.1283C>T, NM_001386174.1:c.1619C>G, NM_001386174.1:c.1619C>T, NM_001386175.1:c.1595C>G, NM_001386175.1:c.1595C>T, NM_001386142.1:c.1481C>G, NM_001386142.1:c.1481C>T, NM_001386144.1:c.1613C>G, NM_001386144.1:c.1613C>T, NM_001386143.1:c.1505C>G, NM_001386143.1:c.1505C>T, NM_001386146.1:c.1481C>G, NM_001386146.1:c.1481C>T, NM_001386160.1:c.1526C>G, NM_001386160.1:c.1526C>T, NM_001386147.1:c.1526C>G, NM_001386147.1:c.1526C>T, NM_001386149.1:c.1481C>G, NM_001386149.1:c.1481C>T, NM_001386152.1:c.1613C>G, NM_001386152.1:c.1613C>T, NM_001386150.1:c.1481C>G, NM_001386150.1:c.1481C>T, NM_001386161.1:c.1505C>G, NM_001386161.1:c.1505C>T, NM_001386151.1:c.1481C>G, NM_001386151.1:c.1481C>T, NM_001386153.1:c.1481C>G, NM_001386153.1:c.1481C>T, NM_001386154.1:c.1481C>G, NM_001386154.1:c.1481C>T, NM_001386156.1:c.1505C>G, NM_001386156.1:c.1505C>T, NM_001386162.1:c.1481C>G, NM_001386162.1:c.1481C>T, NM_001386157.1:c.1283C>G, NM_001386157.1:c.1283C>T, NM_001386158.1:c.1283C>G, NM_001386158.1:c.1283C>T, NM_001386173.1:c.1505C>G, NM_001386173.1:c.1505C>T, NP_001139.3:p.Pro523Arg, NP_001139.3:p.Pro523Leu, NP_066187.2:p.Pro523Arg, NP_066187.2:p.Pro523Leu, NP_001120965.1:p.Pro502Arg, NP_001120965.1:p.Pro502Leu, NP_001341198.1:p.Pro453Arg, NP_001341198.1:p.Pro453Leu, NP_001341154.1:p.Pro523Arg, NP_001341154.1:p.Pro523Leu, NP_001341157.1:p.Pro523Arg, NP_001341157.1:p.Pro523Leu, NP_001341161.1:p.Pro523Arg, NP_001341161.1:p.Pro523Leu, NP_001341159.1:p.Pro538Arg, NP_001341159.1:p.Pro538Leu, NP_001341160.1:p.Pro538Arg, NP_001341160.1:p.Pro538Leu, NP_001341164.1:p.Pro523Arg, NP_001341164.1:p.Pro523Leu, NP_001341165.1:p.Pro523Arg, NP_001341165.1:p.Pro523Leu, NP_001341170.1:p.Pro538Arg, NP_001341170.1:p.Pro538Leu, NP_001341166.1:p.Pro538Arg, NP_001341166.1:p.Pro538Leu, NP_001341174.1:p.Pro523Arg, NP_001341174.1:p.Pro523Leu, NP_001341169.1:p.Pro538Arg, NP_001341169.1:p.Pro538Leu, NP_001341171.1:p.Pro538Arg, NP_001341171.1:p.Pro538Leu, NP_001341175.1:p.Pro523Arg, NP_001341175.1:p.Pro523Leu, NP_001341168.1:p.Pro502Arg, NP_001341168.1:p.Pro502Leu, NP_001341172.1:p.Pro502Arg, NP_001341172.1:p.Pro502Leu, NP_001341173.1:p.Pro502Arg, NP_001341173.1:p.Pro502Leu, NP_001341187.1:p.Pro523Arg, NP_001341187.1:p.Pro523Leu, NP_001341178.1:p.Pro494Arg, NP_001341178.1:p.Pro494Leu, NP_001341181.1:p.Pro502Arg, NP_001341181.1:p.Pro502Leu, NP_001341182.1:p.Pro502Arg, NP_001341182.1:p.Pro502Leu, NP_001341183.1:p.Pro502Arg, NP_001341183.1:p.Pro502Leu, NP_001341194.1:p.Pro523Arg, NP_001341194.1:p.Pro523Leu, NP_001341184.1:p.Pro502Arg, NP_001341184.1:p.Pro502Leu, NP_001341185.1:p.Pro502Arg, NP_001341185.1:p.Pro502Leu, NP_001341186.1:p.Pro502Arg, NP_001341186.1:p.Pro502Leu, NP_001341197.1:p.Pro523Arg, NP_001341197.1:p.Pro523Leu, NP_001373115.1:p.Pro519Arg, NP_001373115.1:p.Pro519Leu, NP_001341189.1:p.Pro494Arg, NP_001341189.1:p.Pro494Leu, NP_001341190.1:p.Pro509Arg, NP_001341190.1:p.Pro509Leu, NP_001341191.1:p.Pro502Arg, NP_001341191.1:p.Pro502Leu, NP_001341193.1:p.Pro494Arg, NP_001341193.1:p.Pro494Leu, NP_001341202.1:p.Pro457Arg, NP_001341202.1:p.Pro457Leu, NP_001341195.1:p.Pro494Arg, NP_001341195.1:p.Pro494Leu, NP_001341196.1:p.Pro494Arg, NP_001341196.1:p.Pro494Leu, NP_001341199.1:p.Pro502Arg, NP_001341199.1:p.Pro502Leu, NP_001373077.1:p.Pro519Arg, NP_001373077.1:p.Pro519Leu, NP_001341201.1:p.Pro502Arg, NP_001341201.1:p.Pro502Leu, NP_001341200.1:p.Pro494Arg, NP_001341200.1:p.Pro494Leu, NP_001341203.1:p.Pro494Arg, NP_001341203.1:p.Pro494Leu, NP_001341204.1:p.Pro502Arg, NP_001341204.1:p.Pro502Leu, NP_001341205.1:p.Pro494Arg, NP_001341205.1:p.Pro494Leu, NP_001373116.1:p.Pro511Arg, NP_001373116.1:p.Pro511Leu, NP_001341206.1:p.Pro428Arg, NP_001341206.1:p.Pro428Leu, NP_001373103.1:p.Pro540Arg, NP_001373103.1:p.Pro540Leu, NP_001373104.1:p.Pro532Arg, NP_001373104.1:p.Pro532Leu, NP_001373071.1:p.Pro494Arg, NP_001373071.1:p.Pro494Leu, NP_001373073.1:p.Pro538Arg, NP_001373073.1:p.Pro538Leu, NP_001373072.1:p.Pro502Arg, NP_001373072.1:p.Pro502Leu, NP_001373075.1:p.Pro494Arg, NP_001373075.1:p.Pro494Leu, NP_001373089.1:p.Pro509Arg, NP_001373089.1:p.Pro509Leu, NP_001373076.1:p.Pro509Arg, NP_001373076.1:p.Pro509Leu, NP_001373078.1:p.Pro494Arg, NP_001373078.1:p.Pro494Leu, NP_001373081.1:p.Pro538Arg, NP_001373081.1:p.Pro538Leu, NP_001373079.1:p.Pro494Arg, NP_001373079.1:p.Pro494Leu, NP_001373090.1:p.Pro502Arg, NP_001373090.1:p.Pro502Leu, NP_001373080.1:p.Pro494Arg, NP_001373080.1:p.Pro494Leu, NP_001373082.1:p.Pro494Arg, NP_001373082.1:p.Pro494Leu, NP_001373083.1:p.Pro494Arg, NP_001373083.1:p.Pro494Leu, NP_001373085.1:p.Pro502Arg, NP_001373085.1:p.Pro502Leu, NP_001373091.1:p.Pro494Arg, NP_001373091.1:p.Pro494Leu, NP_001373086.1:p.Pro428Arg, NP_001373086.1:p.Pro428Leu, NP_001373087.1:p.Pro428Arg, NP_001373087.1:p.Pro428Leu

                              15.

                              rs1478665074 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                4:113255883 (GRCh38)
                                4:114177039 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:113255882:T:C
                                Gene:
                                ANK2 (Varview)
                                Functional Consequence:
                                missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                Clinical significance:
                                uncertain-significance
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000004.12:g.113255883T>C, NC_000004.11:g.114177039T>C, NG_009006.2:g.442801T>C, NM_001148.6:c.1139T>C, NM_001148.5:c.1139T>C, NM_001148.4:c.1139T>C, NM_020977.5:c.1139T>C, NM_020977.4:c.1139T>C, NM_020977.3:c.1139T>C, NM_001127493.3:c.1076T>C, NM_001127493.2:c.1076T>C, NM_001127493.1:c.1076T>C, NM_001354269.3:c.1127T>C, NM_001354269.2:c.1127T>C, NM_001354269.1:c.1127T>C, NM_001354225.2:c.1139T>C, NM_001354225.1:c.1139T>C, NM_001354228.2:c.1139T>C, NM_001354228.1:c.1139T>C, NM_001354232.2:c.1139T>C, NM_001354232.1:c.1139T>C, NM_001354230.2:c.1184T>C, NM_001354230.1:c.1184T>C, NM_001354231.2:c.1184T>C, NM_001354231.1:c.1184T>C, NM_001354235.2:c.1139T>C, NM_001354235.1:c.1139T>C, NM_001354236.2:c.1139T>C, NM_001354236.1:c.1139T>C, NM_001354241.2:c.1184T>C, NM_001354241.1:c.1184T>C, NM_001354237.2:c.1184T>C, NM_001354237.1:c.1184T>C, NM_001354245.2:c.1139T>C, NM_001354245.1:c.1139T>C, NM_001354240.2:c.1184T>C, NM_001354240.1:c.1184T>C, NM_001354242.2:c.1184T>C, NM_001354242.1:c.1184T>C, NM_001354246.2:c.1139T>C, NM_001354246.1:c.1139T>C, NM_001354239.2:c.1076T>C, NM_001354239.1:c.1076T>C, NM_001354243.2:c.1076T>C, NM_001354243.1:c.1076T>C, NM_001354244.2:c.1076T>C, NM_001354244.1:c.1076T>C, NM_001354258.2:c.1139T>C, NM_001354258.1:c.1139T>C, NM_001354249.2:c.1052T>C, NM_001354249.1:c.1052T>C, NM_001354252.2:c.1076T>C, NM_001354252.1:c.1076T>C, NM_001354253.2:c.1076T>C, NM_001354253.1:c.1076T>C, NM_001354254.2:c.1076T>C, NM_001354254.1:c.1076T>C, NM_001354265.2:c.1139T>C, NM_001354265.1:c.1139T>C, NM_001354255.2:c.1076T>C, NM_001354255.1:c.1076T>C, NM_001354256.2:c.1076T>C, NM_001354256.1:c.1076T>C, NM_001354257.2:c.1076T>C, NM_001354257.1:c.1076T>C, NM_001354268.2:c.1139T>C, NM_001354268.1:c.1139T>C, NM_001386186.2:c.1127T>C, NM_001386186.1:c.1127T>C, NM_001354260.2:c.1052T>C, NM_001354260.1:c.1052T>C, NM_001354261.2:c.1097T>C, NM_001354261.1:c.1097T>C, NM_001354262.2:c.1076T>C, NM_001354262.1:c.1076T>C, NM_001354264.2:c.1052T>C, NM_001354264.1:c.1052T>C, NM_001354273.2:c.1139T>C, NM_001354273.1:c.1139T>C, NM_001354266.2:c.1052T>C, NM_001354266.1:c.1052T>C, NM_001354267.2:c.1052T>C, NM_001354267.1:c.1052T>C, NM_001354270.2:c.1076T>C, NM_001354270.1:c.1076T>C, NM_001386148.2:c.1127T>C, NM_001386148.1:c.1127T>C, NM_001354272.2:c.1076T>C, NM_001354272.1:c.1076T>C, NM_001354271.2:c.1052T>C, NM_001354271.1:c.1052T>C, NM_001354274.2:c.1052T>C, NM_001354274.1:c.1052T>C, NM_001354275.2:c.1076T>C, NM_001354275.1:c.1076T>C, NM_001354276.2:c.1052T>C, NM_001354276.1:c.1052T>C, NM_001386187.2:c.1103T>C, NM_001386187.1:c.1103T>C, NM_001354277.2:c.1052T>C, NM_001354277.1:c.1052T>C, NM_001386174.1:c.1190T>C, NM_001386175.1:c.1166T>C, NM_001386142.1:c.1052T>C, NM_001386144.1:c.1184T>C, NM_001386143.1:c.1076T>C, NM_001386146.1:c.1052T>C, NM_001386160.1:c.1097T>C, NM_001386147.1:c.1097T>C, NM_001386149.1:c.1052T>C, NM_001386152.1:c.1184T>C, NM_001386150.1:c.1052T>C, NM_001386161.1:c.1076T>C, NM_001386151.1:c.1052T>C, NM_001386153.1:c.1052T>C, NM_001386154.1:c.1052T>C, NM_001386156.1:c.1076T>C, NM_001386162.1:c.1052T>C, NM_001386157.1:c.1052T>C, NM_001386158.1:c.1052T>C, NM_001386173.1:c.1076T>C, NP_001139.3:p.Val380Ala, NP_066187.2:p.Val380Ala, NP_001120965.1:p.Val359Ala, NP_001341198.1:p.Val376Ala, NP_001341154.1:p.Val380Ala, NP_001341157.1:p.Val380Ala, NP_001341161.1:p.Val380Ala, NP_001341159.1:p.Val395Ala, NP_001341160.1:p.Val395Ala, NP_001341164.1:p.Val380Ala, NP_001341165.1:p.Val380Ala, NP_001341170.1:p.Val395Ala, NP_001341166.1:p.Val395Ala, NP_001341174.1:p.Val380Ala, NP_001341169.1:p.Val395Ala, NP_001341171.1:p.Val395Ala, NP_001341175.1:p.Val380Ala, NP_001341168.1:p.Val359Ala, NP_001341172.1:p.Val359Ala, NP_001341173.1:p.Val359Ala, NP_001341187.1:p.Val380Ala, NP_001341178.1:p.Val351Ala, NP_001341181.1:p.Val359Ala, NP_001341182.1:p.Val359Ala, NP_001341183.1:p.Val359Ala, NP_001341194.1:p.Val380Ala, NP_001341184.1:p.Val359Ala, NP_001341185.1:p.Val359Ala, NP_001341186.1:p.Val359Ala, NP_001341197.1:p.Val380Ala, NP_001373115.1:p.Val376Ala, NP_001341189.1:p.Val351Ala, NP_001341190.1:p.Val366Ala, NP_001341191.1:p.Val359Ala, NP_001341193.1:p.Val351Ala, NP_001341202.1:p.Val380Ala, NP_001341195.1:p.Val351Ala, NP_001341196.1:p.Val351Ala, NP_001341199.1:p.Val359Ala, NP_001373077.1:p.Val376Ala, NP_001341201.1:p.Val359Ala, NP_001341200.1:p.Val351Ala, NP_001341203.1:p.Val351Ala, NP_001341204.1:p.Val359Ala, NP_001341205.1:p.Val351Ala, NP_001373116.1:p.Val368Ala, NP_001341206.1:p.Val351Ala, NP_001373103.1:p.Val397Ala, NP_001373104.1:p.Val389Ala, NP_001373071.1:p.Val351Ala, NP_001373073.1:p.Val395Ala, NP_001373072.1:p.Val359Ala, NP_001373075.1:p.Val351Ala, NP_001373089.1:p.Val366Ala, NP_001373076.1:p.Val366Ala, NP_001373078.1:p.Val351Ala, NP_001373081.1:p.Val395Ala, NP_001373079.1:p.Val351Ala, NP_001373090.1:p.Val359Ala, NP_001373080.1:p.Val351Ala, NP_001373082.1:p.Val351Ala, NP_001373083.1:p.Val351Ala, NP_001373085.1:p.Val359Ala, NP_001373091.1:p.Val351Ala, NP_001373086.1:p.Val351Ala, NP_001373087.1:p.Val351Ala

                                16.

                                rs1476966675 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  4:113365149 (GRCh38)
                                  4:114286305 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:113365148:A:G
                                  Gene:
                                  ANK2 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Clinical significance:
                                  uncertain-significance
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  G=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000004.12:g.113365149A>G, NC_000004.11:g.114286305A>G, NG_009006.2:g.552067A>G, NM_001148.6:c.10999A>G, NM_001148.5:c.10999A>G, NM_001148.4:c.10999A>G, NM_020977.5:c.4744A>G, NM_020977.4:c.4744A>G, NM_020977.3:c.4744A>G, NM_001127493.3:c.4717A>G, NM_001127493.2:c.4717A>G, NM_001127493.1:c.4717A>G, NM_001354269.3:c.4531A>G, NM_001354269.2:c.4531A>G, NM_001354269.1:c.4531A>G, NM_001354225.2:c.4756A>G, NM_001354225.1:c.4756A>G, NM_001354228.2:c.4645A>G, NM_001354228.1:c.4645A>G, NM_001354232.2:c.4780A>G, NM_001354232.1:c.4780A>G, NM_001354230.2:c.4723A>G, NM_001354230.1:c.4723A>G, NM_001354231.2:c.4786A>G, NM_001354231.1:c.4786A>G, NM_001354235.2:c.4741A>G, NM_001354235.1:c.4741A>G, NM_001354236.2:c.4642A>G, NM_001354236.1:c.4642A>G, NM_001354241.2:c.4789A>G, NM_001354241.1:c.4789A>G, NM_001354237.2:c.4822A>G, NM_001354237.1:c.4822A>G, NM_001354245.2:c.4582A>G, NM_001354245.1:c.4582A>G, NM_001354240.2:c.4789A>G, NM_001354240.1:c.4789A>G, NM_001354242.2:c.4786A>G, NM_001354242.1:c.4786A>G, NM_001354246.2:c.4741A>G, NM_001354246.1:c.4741A>G, NM_001354239.2:c.4714A>G, NM_001354239.1:c.4714A>G, NM_001354243.2:c.4681A>G, NM_001354243.1:c.4681A>G, NM_001354244.2:c.4678A>G, NM_001354244.1:c.4678A>G, NM_001354258.2:c.4645A>G, NM_001354258.1:c.4645A>G, NM_001354249.2:c.4558A>G, NM_001354249.1:c.4558A>G, NM_001354252.2:c.4714A>G, NM_001354252.1:c.4714A>G, NM_001354253.2:c.4519A>G, NM_001354253.1:c.4519A>G, NM_001354254.2:c.4693A>G, NM_001354254.1:c.4693A>G, NM_001354265.2:c.4741A>G, NM_001354265.1:c.4741A>G, NM_001354255.2:c.4681A>G, NM_001354255.1:c.4681A>G, NM_001354256.2:c.4678A>G, NM_001354256.1:c.4678A>G, NM_001354257.2:c.4483A>G, NM_001354257.1:c.4483A>G, NM_001354268.2:c.4546A>G, NM_001354268.1:c.4546A>G, NM_001386186.2:c.4729A>G, NM_001386186.1:c.4729A>G, NM_001354260.2:c.4459A>G, NM_001354260.1:c.4459A>G, NM_001354261.2:c.4603A>G, NM_001354261.1:c.4603A>G, NM_001354262.2:c.4582A>G, NM_001354262.1:c.4582A>G, NM_001354264.2:c.4579A>G, NM_001354264.1:c.4579A>G, NM_001354273.2:c.4444A>G, NM_001354273.1:c.4444A>G, NM_001354266.2:c.4558A>G, NM_001354266.1:c.4558A>G, NM_001354267.2:c.4558A>G, NM_001354267.1:c.4558A>G, NM_001354270.2:c.4519A>G, NM_001354270.1:c.4519A>G, NM_001386148.2:c.4729A>G, NM_001386148.1:c.4729A>G, NM_001354272.2:c.4615A>G, NM_001354272.1:c.4615A>G, NM_001354271.2:c.4459A>G, NM_001354271.1:c.4459A>G, NM_001354274.2:c.4510A>G, NM_001354274.1:c.4510A>G, NM_001354275.2:c.4582A>G, NM_001354275.1:c.4582A>G, NM_001354276.2:c.4558A>G, NM_001354276.1:c.4558A>G, NM_001386187.2:c.4609A>G, NM_001386187.1:c.4609A>G, NM_001354277.2:c.4360A>G, NM_001354277.1:c.4360A>G, NM_001354278.2:c.2272A>G, NM_001354278.1:c.2272A>G, NM_001354279.2:c.2308A>G, NM_001354279.1:c.2308A>G, NM_001354280.2:c.2293A>G, NM_001354280.1:c.2293A>G, NM_001354281.2:c.2272A>G, NM_001354281.1:c.2272A>G, NM_001354282.2:c.2308A>G, NM_001354282.1:c.2308A>G, NM_001386174.1:c.11140A>G, NM_001386175.1:c.11116A>G, NM_001386142.1:c.10765A>G, NM_001386166.1:c.7399A>G, NM_001386144.1:c.4789A>G, NM_001386143.1:c.4681A>G, NM_001386146.1:c.4525A>G, NM_001386160.1:c.4588A>G, NM_001386147.1:c.4570A>G, NM_001386149.1:c.4525A>G, NM_001386152.1:c.4801A>G, NM_001386150.1:c.4525A>G, NM_001386161.1:c.4678A>G, NM_001386151.1:c.4459A>G, NM_001386153.1:c.4525A>G, NM_001386154.1:c.4510A>G, NM_001386156.1:c.4483A>G, NM_001386162.1:c.4558A>G, NM_001386157.1:c.4360A>G, NM_001386158.1:c.4261A>G, NM_001386167.1:c.1144A>G, NM_001386173.1:c.11038A>G, NP_001139.3:p.Ile3667Val, NP_066187.2:p.Ile1582Val, NP_001120965.1:p.Ile1573Val, NP_001341198.1:p.Ile1511Val, NP_001341154.1:p.Ile1586Val, NP_001341157.1:p.Ile1549Val, NP_001341161.1:p.Ile1594Val, NP_001341159.1:p.Ile1575Val, NP_001341160.1:p.Ile1596Val, NP_001341164.1:p.Ile1581Val, NP_001341165.1:p.Ile1548Val, NP_001341170.1:p.Ile1597Val, NP_001341166.1:p.Ile1608Val, NP_001341174.1:p.Ile1528Val, NP_001341169.1:p.Ile1597Val, NP_001341171.1:p.Ile1596Val, NP_001341175.1:p.Ile1581Val, NP_001341168.1:p.Ile1572Val, NP_001341172.1:p.Ile1561Val, NP_001341173.1:p.Ile1560Val, NP_001341187.1:p.Ile1549Val, NP_001341178.1:p.Ile1520Val, NP_001341181.1:p.Ile1572Val, NP_001341182.1:p.Ile1507Val, NP_001341183.1:p.Ile1565Val, NP_001341194.1:p.Ile1581Val, NP_001341184.1:p.Ile1561Val, NP_001341185.1:p.Ile1560Val, NP_001341186.1:p.Ile1495Val, NP_001341197.1:p.Ile1516Val, NP_001373115.1:p.Ile1577Val, NP_001341189.1:p.Ile1487Val, NP_001341190.1:p.Ile1535Val, NP_001341191.1:p.Ile1528Val, NP_001341193.1:p.Ile1527Val, NP_001341202.1:p.Ile1482Val, NP_001341195.1:p.Ile1520Val, NP_001341196.1:p.Ile1520Val, NP_001341199.1:p.Ile1507Val, NP_001373077.1:p.Ile1577Val, NP_001341201.1:p.Ile1539Val, NP_001341200.1:p.Ile1487Val, NP_001341203.1:p.Ile1504Val, NP_001341204.1:p.Ile1528Val, NP_001341205.1:p.Ile1520Val, NP_001373116.1:p.Ile1537Val, NP_001341206.1:p.Ile1454Val, NP_001341207.1:p.Ile758Val, NP_001341208.1:p.Ile770Val, NP_001341209.1:p.Ile765Val, NP_001341210.1:p.Ile758Val, NP_001341211.1:p.Ile770Val, NP_001373103.1:p.Ile3714Val, NP_001373104.1:p.Ile3706Val, NP_001373071.1:p.Ile3589Val, NP_001373095.1:p.Ile2467Val, NP_001373073.1:p.Ile1597Val, NP_001373072.1:p.Ile1561Val, NP_001373075.1:p.Ile1509Val, NP_001373089.1:p.Ile1530Val, NP_001373076.1:p.Ile1524Val, NP_001373078.1:p.Ile1509Val, NP_001373081.1:p.Ile1601Val, NP_001373079.1:p.Ile1509Val, NP_001373090.1:p.Ile1560Val, NP_001373080.1:p.Ile1487Val, NP_001373082.1:p.Ile1509Val, NP_001373083.1:p.Ile1504Val, NP_001373085.1:p.Ile1495Val, NP_001373091.1:p.Ile1520Val, NP_001373086.1:p.Ile1454Val, NP_001373087.1:p.Ile1421Val, NP_001373096.1:p.Ile382Val

                                  17.

                                  rs1476306807 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    4:113373140 (GRCh38)
                                    4:114294296 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:113373139:C:T
                                    Gene:
                                    ANK2 (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,synonymous_variant
                                    Clinical significance:
                                    likely-benign
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000004.12:g.113373140C>T, NC_000004.11:g.114294296C>T, NG_009006.2:g.560058C>T, NM_001148.6:c.11661C>T, NM_001148.5:c.11661C>T, NM_001148.4:c.11661C>T, NM_020977.5:c.5406C>T, NM_020977.4:c.5406C>T, NM_020977.3:c.5406C>T, NM_001127493.3:c.5379C>T, NM_001127493.2:c.5379C>T, NM_001127493.1:c.5379C>T, NM_001354269.3:c.5193C>T, NM_001354269.2:c.5193C>T, NM_001354269.1:c.5193C>T, NM_001354225.2:c.5418C>T, NM_001354225.1:c.5418C>T, NM_001354228.2:c.5400C>T, NM_001354228.1:c.5400C>T, NM_001354232.2:c.5535C>T, NM_001354232.1:c.5535C>T, NM_001354230.2:c.5385C>T, NM_001354230.1:c.5385C>T, NM_001354231.2:c.5541C>T, NM_001354231.1:c.5541C>T, NM_001354235.2:c.5496C>T, NM_001354235.1:c.5496C>T, NM_001354236.2:c.5304C>T, NM_001354236.1:c.5304C>T, NM_001354241.2:c.5451C>T, NM_001354241.1:c.5451C>T, NM_001354237.2:c.5484C>T, NM_001354237.1:c.5484C>T, NM_001354245.2:c.5244C>T, NM_001354245.1:c.5244C>T, NM_001354240.2:c.5451C>T, NM_001354240.1:c.5451C>T, NM_001354242.2:c.5448C>T, NM_001354242.1:c.5448C>T, NM_001354246.2:c.5403C>T, NM_001354246.1:c.5403C>T, NM_001354239.2:c.5469C>T, NM_001354239.1:c.5469C>T, NM_001354243.2:c.5436C>T, NM_001354243.1:c.5436C>T, NM_001354244.2:c.5433C>T, NM_001354244.1:c.5433C>T, NM_001354258.2:c.5307C>T, NM_001354258.1:c.5307C>T, NM_001354249.2:c.5220C>T, NM_001354249.1:c.5220C>T, NM_001354252.2:c.5376C>T, NM_001354252.1:c.5376C>T, NM_001354253.2:c.5181C>T, NM_001354253.1:c.5181C>T, NM_001354254.2:c.5355C>T, NM_001354254.1:c.5355C>T, NM_001354265.2:c.5403C>T, NM_001354265.1:c.5403C>T, NM_001354255.2:c.5343C>T, NM_001354255.1:c.5343C>T, NM_001354256.2:c.5340C>T, NM_001354256.1:c.5340C>T, NM_001354257.2:c.5145C>T, NM_001354257.1:c.5145C>T, NM_001354268.2:c.5208C>T, NM_001354268.1:c.5208C>T, NM_001386186.2:c.5391C>T, NM_001386186.1:c.5391C>T, NM_001354260.2:c.5121C>T, NM_001354260.1:c.5121C>T, NM_001354261.2:c.5265C>T, NM_001354261.1:c.5265C>T, NM_001354262.2:c.5244C>T, NM_001354262.1:c.5244C>T, NM_001354264.2:c.5241C>T, NM_001354264.1:c.5241C>T, NM_001354273.2:c.5106C>T, NM_001354273.1:c.5106C>T, NM_001354266.2:c.5220C>T, NM_001354266.1:c.5220C>T, NM_001354267.2:c.5220C>T, NM_001354267.1:c.5220C>T, NM_001354270.2:c.5181C>T, NM_001354270.1:c.5181C>T, NM_001386148.2:c.5391C>T, NM_001386148.1:c.5391C>T, NM_001354272.2:c.5277C>T, NM_001354272.1:c.5277C>T, NM_001354271.2:c.5121C>T, NM_001354271.1:c.5121C>T, NM_001354274.2:c.5265C>T, NM_001354274.1:c.5265C>T, NM_001354275.2:c.5244C>T, NM_001354275.1:c.5244C>T, NM_001354276.2:c.5220C>T, NM_001354276.1:c.5220C>T, NM_001386187.2:c.5271C>T, NM_001386187.1:c.5271C>T, NM_001354277.2:c.5022C>T, NM_001354277.1:c.5022C>T, NM_001354278.2:c.2934C>T, NM_001354278.1:c.2934C>T, NM_001354279.2:c.2970C>T, NM_001354279.1:c.2970C>T, NM_001354280.2:c.2955C>T, NM_001354280.1:c.2955C>T, NM_001354281.2:c.2934C>T, NM_001354281.1:c.2934C>T, NM_001354282.2:c.2970C>T, NM_001354282.1:c.2970C>T, NM_001386174.1:c.11895C>T, NM_001386175.1:c.11871C>T, NM_001386142.1:c.11427C>T, NM_001386166.1:c.8061C>T, NM_001386144.1:c.5544C>T, NM_001386143.1:c.5436C>T, NM_001386146.1:c.5280C>T, NM_001386160.1:c.5250C>T, NM_001386147.1:c.5232C>T, NM_001386149.1:c.5187C>T, NM_001386150.1:c.5280C>T, NM_001386161.1:c.5340C>T, NM_001386151.1:c.5214C>T, NM_001386153.1:c.5187C>T, NM_001386154.1:c.5172C>T, NM_001386156.1:c.5145C>T, NM_001386162.1:c.5220C>T, NM_001386157.1:c.5022C>T, NM_001386158.1:c.4923C>T, NM_001386167.1:c.1899C>T, NM_001386173.1:c.11793C>T

                                    18.

                                    rs1476222079 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      4:113336024 (GRCh38)
                                      4:114257180 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:113336023:G:A,NC_000004.12:113336023:G:C
                                      Gene:
                                      ANK2 (Varview)
                                      Functional Consequence:
                                      5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000035/1 (TOMMO)
                                      HGVS:
                                      NC_000004.12:g.113336024G>A, NC_000004.12:g.113336024G>C, NC_000004.11:g.114257180G>A, NC_000004.11:g.114257180G>C, NG_009006.2:g.522942G>A, NG_009006.2:g.522942G>C, NM_001148.6:c.3558G>A, NM_001148.6:c.3558G>C, NM_001148.5:c.3558G>A, NM_001148.5:c.3558G>C, NM_001148.4:c.3558G>A, NM_001148.4:c.3558G>C, NM_020977.5:c.3558G>A, NM_020977.5:c.3558G>C, NM_020977.4:c.3558G>A, NM_020977.4:c.3558G>C, NM_020977.3:c.3558G>A, NM_020977.3:c.3558G>C, NM_001127493.3:c.3531G>A, NM_001127493.3:c.3531G>C, NM_001127493.2:c.3531G>A, NM_001127493.2:c.3531G>C, NM_001127493.1:c.3531G>A, NM_001127493.1:c.3531G>C, NM_001354269.3:c.3345G>A, NM_001354269.3:c.3345G>C, NM_001354269.2:c.3345G>A, NM_001354269.2:c.3345G>C, NM_001354269.1:c.3345G>A, NM_001354269.1:c.3345G>C, NM_001354225.2:c.3570G>A, NM_001354225.2:c.3570G>C, NM_001354225.1:c.3570G>A, NM_001354225.1:c.3570G>C, NM_001354228.2:c.3459G>A, NM_001354228.2:c.3459G>C, NM_001354228.1:c.3459G>A, NM_001354228.1:c.3459G>C, NM_001354232.2:c.3594G>A, NM_001354232.2:c.3594G>C, NM_001354232.1:c.3594G>A, NM_001354232.1:c.3594G>C, NM_001354230.2:c.3537G>A, NM_001354230.2:c.3537G>C, NM_001354230.1:c.3537G>A, NM_001354230.1:c.3537G>C, NM_001354231.2:c.3600G>A, NM_001354231.2:c.3600G>C, NM_001354231.1:c.3600G>A, NM_001354231.1:c.3600G>C, NM_001354235.2:c.3555G>A, NM_001354235.2:c.3555G>C, NM_001354235.1:c.3555G>A, NM_001354235.1:c.3555G>C, NM_001354236.2:c.3456G>A, NM_001354236.2:c.3456G>C, NM_001354236.1:c.3456G>A, NM_001354236.1:c.3456G>C, NM_001354241.2:c.3603G>A, NM_001354241.2:c.3603G>C, NM_001354241.1:c.3603G>A, NM_001354241.1:c.3603G>C, NM_001354237.2:c.3636G>A, NM_001354237.2:c.3636G>C, NM_001354237.1:c.3636G>A, NM_001354237.1:c.3636G>C, NM_001354245.2:c.3396G>A, NM_001354245.2:c.3396G>C, NM_001354245.1:c.3396G>A, NM_001354245.1:c.3396G>C, NM_001354240.2:c.3603G>A, NM_001354240.2:c.3603G>C, NM_001354240.1:c.3603G>A, NM_001354240.1:c.3603G>C, NM_001354242.2:c.3600G>A, NM_001354242.2:c.3600G>C, NM_001354242.1:c.3600G>A, NM_001354242.1:c.3600G>C, NM_001354246.2:c.3555G>A, NM_001354246.2:c.3555G>C, NM_001354246.1:c.3555G>A, NM_001354246.1:c.3555G>C, NM_001354239.2:c.3528G>A, NM_001354239.2:c.3528G>C, NM_001354239.1:c.3528G>A, NM_001354239.1:c.3528G>C, NM_001354243.2:c.3495G>A, NM_001354243.2:c.3495G>C, NM_001354243.1:c.3495G>A, NM_001354243.1:c.3495G>C, NM_001354244.2:c.3492G>A, NM_001354244.2:c.3492G>C, NM_001354244.1:c.3492G>A, NM_001354244.1:c.3492G>C, NM_001354258.2:c.3459G>A, NM_001354258.2:c.3459G>C, NM_001354258.1:c.3459G>A, NM_001354258.1:c.3459G>C, NM_001354249.2:c.3372G>A, NM_001354249.2:c.3372G>C, NM_001354249.1:c.3372G>A, NM_001354249.1:c.3372G>C, NM_001354252.2:c.3528G>A, NM_001354252.2:c.3528G>C, NM_001354252.1:c.3528G>A, NM_001354252.1:c.3528G>C, NM_001354253.2:c.3333G>A, NM_001354253.2:c.3333G>C, NM_001354253.1:c.3333G>A, NM_001354253.1:c.3333G>C, NM_001354254.2:c.3507G>A, NM_001354254.2:c.3507G>C, NM_001354254.1:c.3507G>A, NM_001354254.1:c.3507G>C, NM_001354265.2:c.3555G>A, NM_001354265.2:c.3555G>C, NM_001354265.1:c.3555G>A, NM_001354265.1:c.3555G>C, NM_001354255.2:c.3495G>A, NM_001354255.2:c.3495G>C, NM_001354255.1:c.3495G>A, NM_001354255.1:c.3495G>C, NM_001354256.2:c.3492G>A, NM_001354256.2:c.3492G>C, NM_001354256.1:c.3492G>A, NM_001354256.1:c.3492G>C, NM_001354257.2:c.3297G>A, NM_001354257.2:c.3297G>C, NM_001354257.1:c.3297G>A, NM_001354257.1:c.3297G>C, NM_001354268.2:c.3360G>A, NM_001354268.2:c.3360G>C, NM_001354268.1:c.3360G>A, NM_001354268.1:c.3360G>C, NM_001386186.2:c.3543G>A, NM_001386186.2:c.3543G>C, NM_001386186.1:c.3543G>A, NM_001386186.1:c.3543G>C, NM_001354260.2:c.3273G>A, NM_001354260.2:c.3273G>C, NM_001354260.1:c.3273G>A, NM_001354260.1:c.3273G>C, NM_001354261.2:c.3417G>A, NM_001354261.2:c.3417G>C, NM_001354261.1:c.3417G>A, NM_001354261.1:c.3417G>C, NM_001354262.2:c.3396G>A, NM_001354262.2:c.3396G>C, NM_001354262.1:c.3396G>A, NM_001354262.1:c.3396G>C, NM_001354264.2:c.3393G>A, NM_001354264.2:c.3393G>C, NM_001354264.1:c.3393G>A, NM_001354264.1:c.3393G>C, NM_001354273.2:c.3258G>A, NM_001354273.2:c.3258G>C, NM_001354273.1:c.3258G>A, NM_001354273.1:c.3258G>C, NM_001354266.2:c.3372G>A, NM_001354266.2:c.3372G>C, NM_001354266.1:c.3372G>A, NM_001354266.1:c.3372G>C, NM_001354267.2:c.3372G>A, NM_001354267.2:c.3372G>C, NM_001354267.1:c.3372G>A, NM_001354267.1:c.3372G>C, NM_001354270.2:c.3333G>A, NM_001354270.2:c.3333G>C, NM_001354270.1:c.3333G>A, NM_001354270.1:c.3333G>C, NM_001386148.2:c.3543G>A, NM_001386148.2:c.3543G>C, NM_001386148.1:c.3543G>A, NM_001386148.1:c.3543G>C, NM_001354272.2:c.3429G>A, NM_001354272.2:c.3429G>C, NM_001354272.1:c.3429G>A, NM_001354272.1:c.3429G>C, NM_001354271.2:c.3273G>A, NM_001354271.2:c.3273G>C, NM_001354271.1:c.3273G>A, NM_001354271.1:c.3273G>C, NM_001354274.2:c.3357G>A, NM_001354274.2:c.3357G>C, NM_001354274.1:c.3357G>A, NM_001354274.1:c.3357G>C, NM_001354275.2:c.3396G>A, NM_001354275.2:c.3396G>C, NM_001354275.1:c.3396G>A, NM_001354275.1:c.3396G>C, NM_001354276.2:c.3372G>A, NM_001354276.2:c.3372G>C, NM_001354276.1:c.3372G>A, NM_001354276.1:c.3372G>C, NM_001386187.2:c.3423G>A, NM_001386187.2:c.3423G>C, NM_001386187.1:c.3423G>A, NM_001386187.1:c.3423G>C, NM_001354277.2:c.3174G>A, NM_001354277.2:c.3174G>C, NM_001354277.1:c.3174G>A, NM_001354277.1:c.3174G>C, NM_001354278.2:c.1086G>A, NM_001354278.2:c.1086G>C, NM_001354278.1:c.1086G>A, NM_001354278.1:c.1086G>C, NM_001354279.2:c.1122G>A, NM_001354279.2:c.1122G>C, NM_001354279.1:c.1122G>A, NM_001354279.1:c.1122G>C, NM_001354280.2:c.1107G>A, NM_001354280.2:c.1107G>C, NM_001354280.1:c.1107G>A, NM_001354280.1:c.1107G>C, NM_001354281.2:c.1086G>A, NM_001354281.2:c.1086G>C, NM_001354281.1:c.1086G>A, NM_001354281.1:c.1086G>C, NM_001354282.2:c.1122G>A, NM_001354282.2:c.1122G>C, NM_001354282.1:c.1122G>A, NM_001354282.1:c.1122G>C, NM_001386174.1:c.3699G>A, NM_001386174.1:c.3699G>C, NM_001386175.1:c.3675G>A, NM_001386175.1:c.3675G>C, NM_001386142.1:c.3357G>A, NM_001386142.1:c.3357G>C, NM_001386166.1:c.-43G>A, NM_001386166.1:c.-43G>C, NM_001386144.1:c.3603G>A, NM_001386144.1:c.3603G>C, NM_001386143.1:c.3495G>A, NM_001386143.1:c.3495G>C, NM_001386146.1:c.3372G>A, NM_001386146.1:c.3372G>C, NM_001386160.1:c.3402G>A, NM_001386160.1:c.3402G>C, NM_001386147.1:c.3417G>A, NM_001386147.1:c.3417G>C, NM_001386149.1:c.3372G>A, NM_001386149.1:c.3372G>C, NM_001386152.1:c.3615G>A, NM_001386152.1:c.3615G>C, NM_001386150.1:c.3372G>A, NM_001386150.1:c.3372G>C, NM_001386161.1:c.3492G>A, NM_001386161.1:c.3492G>C, NM_001386151.1:c.3273G>A, NM_001386151.1:c.3273G>C, NM_001386153.1:c.3372G>A, NM_001386153.1:c.3372G>C, NM_001386154.1:c.3357G>A, NM_001386154.1:c.3357G>C, NM_001386156.1:c.3297G>A, NM_001386156.1:c.3297G>C, NM_001386162.1:c.3372G>A, NM_001386162.1:c.3372G>C, NM_001386157.1:c.3174G>A, NM_001386157.1:c.3174G>C, NM_001386158.1:c.3075G>A, NM_001386158.1:c.3075G>C, NM_001386167.1:c.-43G>A, NM_001386167.1:c.-43G>C, NM_001386173.1:c.3597G>A, NM_001386173.1:c.3597G>C

                                      19.

                                      rs1476053477 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C,T [Show Flanks]
                                        Chromosome:
                                        4:113335863 (GRCh38)
                                        4:114257019 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:113335862:G:C,NC_000004.12:113335862:G:T
                                        Gene:
                                        ANK2 (Varview)
                                        Functional Consequence:
                                        missense_variant,upstream_transcript_variant,coding_sequence_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_000004.12:g.113335863G>C, NC_000004.12:g.113335863G>T, NC_000004.11:g.114257019G>C, NC_000004.11:g.114257019G>T, NG_009006.2:g.522781G>C, NG_009006.2:g.522781G>T, NM_001148.6:c.3397G>C, NM_001148.6:c.3397G>T, NM_001148.5:c.3397G>C, NM_001148.5:c.3397G>T, NM_001148.4:c.3397G>C, NM_001148.4:c.3397G>T, NM_020977.5:c.3397G>C, NM_020977.5:c.3397G>T, NM_020977.4:c.3397G>C, NM_020977.4:c.3397G>T, NM_020977.3:c.3397G>C, NM_020977.3:c.3397G>T, NM_001127493.3:c.3370G>C, NM_001127493.3:c.3370G>T, NM_001127493.2:c.3370G>C, NM_001127493.2:c.3370G>T, NM_001127493.1:c.3370G>C, NM_001127493.1:c.3370G>T, NM_001354269.3:c.3184G>C, NM_001354269.3:c.3184G>T, NM_001354269.2:c.3184G>C, NM_001354269.2:c.3184G>T, NM_001354269.1:c.3184G>C, NM_001354269.1:c.3184G>T, NM_001354225.2:c.3409G>C, NM_001354225.2:c.3409G>T, NM_001354225.1:c.3409G>C, NM_001354225.1:c.3409G>T, NM_001354228.2:c.3298G>C, NM_001354228.2:c.3298G>T, NM_001354228.1:c.3298G>C, NM_001354228.1:c.3298G>T, NM_001354232.2:c.3433G>C, NM_001354232.2:c.3433G>T, NM_001354232.1:c.3433G>C, NM_001354232.1:c.3433G>T, NM_001354230.2:c.3376G>C, NM_001354230.2:c.3376G>T, NM_001354230.1:c.3376G>C, NM_001354230.1:c.3376G>T, NM_001354231.2:c.3439G>C, NM_001354231.2:c.3439G>T, NM_001354231.1:c.3439G>C, NM_001354231.1:c.3439G>T, NM_001354235.2:c.3394G>C, NM_001354235.2:c.3394G>T, NM_001354235.1:c.3394G>C, NM_001354235.1:c.3394G>T, NM_001354236.2:c.3295G>C, NM_001354236.2:c.3295G>T, NM_001354236.1:c.3295G>C, NM_001354236.1:c.3295G>T, NM_001354241.2:c.3442G>C, NM_001354241.2:c.3442G>T, NM_001354241.1:c.3442G>C, NM_001354241.1:c.3442G>T, NM_001354237.2:c.3475G>C, NM_001354237.2:c.3475G>T, NM_001354237.1:c.3475G>C, NM_001354237.1:c.3475G>T, NM_001354245.2:c.3235G>C, NM_001354245.2:c.3235G>T, NM_001354245.1:c.3235G>C, NM_001354245.1:c.3235G>T, NM_001354240.2:c.3442G>C, NM_001354240.2:c.3442G>T, NM_001354240.1:c.3442G>C, NM_001354240.1:c.3442G>T, NM_001354242.2:c.3439G>C, NM_001354242.2:c.3439G>T, NM_001354242.1:c.3439G>C, NM_001354242.1:c.3439G>T, NM_001354246.2:c.3394G>C, NM_001354246.2:c.3394G>T, NM_001354246.1:c.3394G>C, NM_001354246.1:c.3394G>T, NM_001354239.2:c.3367G>C, NM_001354239.2:c.3367G>T, NM_001354239.1:c.3367G>C, NM_001354239.1:c.3367G>T, NM_001354243.2:c.3334G>C, NM_001354243.2:c.3334G>T, NM_001354243.1:c.3334G>C, NM_001354243.1:c.3334G>T, NM_001354244.2:c.3331G>C, NM_001354244.2:c.3331G>T, NM_001354244.1:c.3331G>C, NM_001354244.1:c.3331G>T, NM_001354258.2:c.3298G>C, NM_001354258.2:c.3298G>T, NM_001354258.1:c.3298G>C, NM_001354258.1:c.3298G>T, NM_001354249.2:c.3211G>C, NM_001354249.2:c.3211G>T, NM_001354249.1:c.3211G>C, NM_001354249.1:c.3211G>T, NM_001354252.2:c.3367G>C, NM_001354252.2:c.3367G>T, NM_001354252.1:c.3367G>C, NM_001354252.1:c.3367G>T, NM_001354253.2:c.3172G>C, NM_001354253.2:c.3172G>T, NM_001354253.1:c.3172G>C, NM_001354253.1:c.3172G>T, NM_001354254.2:c.3346G>C, NM_001354254.2:c.3346G>T, NM_001354254.1:c.3346G>C, NM_001354254.1:c.3346G>T, NM_001354265.2:c.3394G>C, NM_001354265.2:c.3394G>T, NM_001354265.1:c.3394G>C, NM_001354265.1:c.3394G>T, NM_001354255.2:c.3334G>C, NM_001354255.2:c.3334G>T, NM_001354255.1:c.3334G>C, NM_001354255.1:c.3334G>T, NM_001354256.2:c.3331G>C, NM_001354256.2:c.3331G>T, NM_001354256.1:c.3331G>C, NM_001354256.1:c.3331G>T, NM_001354257.2:c.3136G>C, NM_001354257.2:c.3136G>T, NM_001354257.1:c.3136G>C, NM_001354257.1:c.3136G>T, NM_001354268.2:c.3199G>C, NM_001354268.2:c.3199G>T, NM_001354268.1:c.3199G>C, NM_001354268.1:c.3199G>T, NM_001386186.2:c.3382G>C, NM_001386186.2:c.3382G>T, NM_001386186.1:c.3382G>C, NM_001386186.1:c.3382G>T, NM_001354260.2:c.3112G>C, NM_001354260.2:c.3112G>T, NM_001354260.1:c.3112G>C, NM_001354260.1:c.3112G>T, NM_001354261.2:c.3256G>C, NM_001354261.2:c.3256G>T, NM_001354261.1:c.3256G>C, NM_001354261.1:c.3256G>T, NM_001354262.2:c.3235G>C, NM_001354262.2:c.3235G>T, NM_001354262.1:c.3235G>C, NM_001354262.1:c.3235G>T, NM_001354264.2:c.3232G>C, NM_001354264.2:c.3232G>T, NM_001354264.1:c.3232G>C, NM_001354264.1:c.3232G>T, NM_001354273.2:c.3097G>C, NM_001354273.2:c.3097G>T, NM_001354273.1:c.3097G>C, NM_001354273.1:c.3097G>T, NM_001354266.2:c.3211G>C, NM_001354266.2:c.3211G>T, NM_001354266.1:c.3211G>C, NM_001354266.1:c.3211G>T, NM_001354267.2:c.3211G>C, NM_001354267.2:c.3211G>T, NM_001354267.1:c.3211G>C, NM_001354267.1:c.3211G>T, NM_001354270.2:c.3172G>C, NM_001354270.2:c.3172G>T, NM_001354270.1:c.3172G>C, NM_001354270.1:c.3172G>T, NM_001386148.2:c.3382G>C, NM_001386148.2:c.3382G>T, NM_001386148.1:c.3382G>C, NM_001386148.1:c.3382G>T, NM_001354272.2:c.3268G>C, NM_001354272.2:c.3268G>T, NM_001354272.1:c.3268G>C, NM_001354272.1:c.3268G>T, NM_001354271.2:c.3112G>C, NM_001354271.2:c.3112G>T, NM_001354271.1:c.3112G>C, NM_001354271.1:c.3112G>T, NM_001354274.2:c.3196G>C, NM_001354274.2:c.3196G>T, NM_001354274.1:c.3196G>C, NM_001354274.1:c.3196G>T, NM_001354275.2:c.3235G>C, NM_001354275.2:c.3235G>T, NM_001354275.1:c.3235G>C, NM_001354275.1:c.3235G>T, NM_001354276.2:c.3211G>C, NM_001354276.2:c.3211G>T, NM_001354276.1:c.3211G>C, NM_001354276.1:c.3211G>T, NM_001386187.2:c.3262G>C, NM_001386187.2:c.3262G>T, NM_001386187.1:c.3262G>C, NM_001386187.1:c.3262G>T, NM_001354277.2:c.3013G>C, NM_001354277.2:c.3013G>T, NM_001354277.1:c.3013G>C, NM_001354277.1:c.3013G>T, NM_001354278.2:c.925G>C, NM_001354278.2:c.925G>T, NM_001354278.1:c.925G>C, NM_001354278.1:c.925G>T, NM_001354279.2:c.961G>C, NM_001354279.2:c.961G>T, NM_001354279.1:c.961G>C, NM_001354279.1:c.961G>T, NM_001354280.2:c.946G>C, NM_001354280.2:c.946G>T, NM_001354280.1:c.946G>C, NM_001354280.1:c.946G>T, NM_001354281.2:c.925G>C, NM_001354281.2:c.925G>T, NM_001354281.1:c.925G>C, NM_001354281.1:c.925G>T, NM_001354282.2:c.961G>C, NM_001354282.2:c.961G>T, NM_001354282.1:c.961G>C, NM_001354282.1:c.961G>T, NM_001386174.1:c.3538G>C, NM_001386174.1:c.3538G>T, NM_001386175.1:c.3514G>C, NM_001386175.1:c.3514G>T, NM_001386142.1:c.3196G>C, NM_001386142.1:c.3196G>T, NM_001386144.1:c.3442G>C, NM_001386144.1:c.3442G>T, NM_001386143.1:c.3334G>C, NM_001386143.1:c.3334G>T, NM_001386146.1:c.3211G>C, NM_001386146.1:c.3211G>T, NM_001386160.1:c.3241G>C, NM_001386160.1:c.3241G>T, NM_001386147.1:c.3256G>C, NM_001386147.1:c.3256G>T, NM_001386149.1:c.3211G>C, NM_001386149.1:c.3211G>T, NM_001386152.1:c.3454G>C, NM_001386152.1:c.3454G>T, NM_001386150.1:c.3211G>C, NM_001386150.1:c.3211G>T, NM_001386161.1:c.3331G>C, NM_001386161.1:c.3331G>T, NM_001386151.1:c.3112G>C, NM_001386151.1:c.3112G>T, NM_001386153.1:c.3211G>C, NM_001386153.1:c.3211G>T, NM_001386154.1:c.3196G>C, NM_001386154.1:c.3196G>T, NM_001386156.1:c.3136G>C, NM_001386156.1:c.3136G>T, NM_001386162.1:c.3211G>C, NM_001386162.1:c.3211G>T, NM_001386157.1:c.3013G>C, NM_001386157.1:c.3013G>T, NM_001386158.1:c.2914G>C, NM_001386158.1:c.2914G>T, NM_001386173.1:c.3436G>C, NM_001386173.1:c.3436G>T, NP_001139.3:p.Asp1133His, NP_001139.3:p.Asp1133Tyr, NP_066187.2:p.Asp1133His, NP_066187.2:p.Asp1133Tyr, NP_001120965.1:p.Asp1124His, NP_001120965.1:p.Asp1124Tyr, NP_001341198.1:p.Asp1062His, NP_001341198.1:p.Asp1062Tyr, NP_001341154.1:p.Asp1137His, NP_001341154.1:p.Asp1137Tyr, NP_001341157.1:p.Asp1100His, NP_001341157.1:p.Asp1100Tyr, NP_001341161.1:p.Asp1145His, NP_001341161.1:p.Asp1145Tyr, NP_001341159.1:p.Asp1126His, NP_001341159.1:p.Asp1126Tyr, NP_001341160.1:p.Asp1147His, NP_001341160.1:p.Asp1147Tyr, NP_001341164.1:p.Asp1132His, NP_001341164.1:p.Asp1132Tyr, NP_001341165.1:p.Asp1099His, NP_001341165.1:p.Asp1099Tyr, NP_001341170.1:p.Asp1148His, NP_001341170.1:p.Asp1148Tyr, NP_001341166.1:p.Asp1159His, NP_001341166.1:p.Asp1159Tyr, NP_001341174.1:p.Asp1079His, NP_001341174.1:p.Asp1079Tyr, NP_001341169.1:p.Asp1148His, NP_001341169.1:p.Asp1148Tyr, NP_001341171.1:p.Asp1147His, NP_001341171.1:p.Asp1147Tyr, NP_001341175.1:p.Asp1132His, NP_001341175.1:p.Asp1132Tyr, NP_001341168.1:p.Asp1123His, NP_001341168.1:p.Asp1123Tyr, NP_001341172.1:p.Asp1112His, NP_001341172.1:p.Asp1112Tyr, NP_001341173.1:p.Asp1111His, NP_001341173.1:p.Asp1111Tyr, NP_001341187.1:p.Asp1100His, NP_001341187.1:p.Asp1100Tyr, NP_001341178.1:p.Asp1071His, NP_001341178.1:p.Asp1071Tyr, NP_001341181.1:p.Asp1123His, NP_001341181.1:p.Asp1123Tyr, NP_001341182.1:p.Asp1058His, NP_001341182.1:p.Asp1058Tyr, NP_001341183.1:p.Asp1116His, NP_001341183.1:p.Asp1116Tyr, NP_001341194.1:p.Asp1132His, NP_001341194.1:p.Asp1132Tyr, NP_001341184.1:p.Asp1112His, NP_001341184.1:p.Asp1112Tyr, NP_001341185.1:p.Asp1111His, NP_001341185.1:p.Asp1111Tyr, NP_001341186.1:p.Asp1046His, NP_001341186.1:p.Asp1046Tyr, NP_001341197.1:p.Asp1067His, NP_001341197.1:p.Asp1067Tyr, NP_001373115.1:p.Asp1128His, NP_001373115.1:p.Asp1128Tyr, NP_001341189.1:p.Asp1038His, NP_001341189.1:p.Asp1038Tyr, NP_001341190.1:p.Asp1086His, NP_001341190.1:p.Asp1086Tyr, NP_001341191.1:p.Asp1079His, NP_001341191.1:p.Asp1079Tyr, NP_001341193.1:p.Asp1078His, NP_001341193.1:p.Asp1078Tyr, NP_001341202.1:p.Asp1033His, NP_001341202.1:p.Asp1033Tyr, NP_001341195.1:p.Asp1071His, NP_001341195.1:p.Asp1071Tyr, NP_001341196.1:p.Asp1071His, NP_001341196.1:p.Asp1071Tyr, NP_001341199.1:p.Asp1058His, NP_001341199.1:p.Asp1058Tyr, NP_001373077.1:p.Asp1128His, NP_001373077.1:p.Asp1128Tyr, NP_001341201.1:p.Asp1090His, NP_001341201.1:p.Asp1090Tyr, NP_001341200.1:p.Asp1038His, NP_001341200.1:p.Asp1038Tyr, NP_001341203.1:p.Asp1066His, NP_001341203.1:p.Asp1066Tyr, NP_001341204.1:p.Asp1079His, NP_001341204.1:p.Asp1079Tyr, NP_001341205.1:p.Asp1071His, NP_001341205.1:p.Asp1071Tyr, NP_001373116.1:p.Asp1088His, NP_001373116.1:p.Asp1088Tyr, NP_001341206.1:p.Asp1005His, NP_001341206.1:p.Asp1005Tyr, NP_001341207.1:p.Asp309His, NP_001341207.1:p.Asp309Tyr, NP_001341208.1:p.Asp321His, NP_001341208.1:p.Asp321Tyr, NP_001341209.1:p.Asp316His, NP_001341209.1:p.Asp316Tyr, NP_001341210.1:p.Asp309His, NP_001341210.1:p.Asp309Tyr, NP_001341211.1:p.Asp321His, NP_001341211.1:p.Asp321Tyr, NP_001373103.1:p.Asp1180His, NP_001373103.1:p.Asp1180Tyr, NP_001373104.1:p.Asp1172His, NP_001373104.1:p.Asp1172Tyr, NP_001373071.1:p.Asp1066His, NP_001373071.1:p.Asp1066Tyr, NP_001373073.1:p.Asp1148His, NP_001373073.1:p.Asp1148Tyr, NP_001373072.1:p.Asp1112His, NP_001373072.1:p.Asp1112Tyr, NP_001373075.1:p.Asp1071His, NP_001373075.1:p.Asp1071Tyr, NP_001373089.1:p.Asp1081His, NP_001373089.1:p.Asp1081Tyr, NP_001373076.1:p.Asp1086His, NP_001373076.1:p.Asp1086Tyr, NP_001373078.1:p.Asp1071His, NP_001373078.1:p.Asp1071Tyr, NP_001373081.1:p.Asp1152His, NP_001373081.1:p.Asp1152Tyr, NP_001373079.1:p.Asp1071His, NP_001373079.1:p.Asp1071Tyr, NP_001373090.1:p.Asp1111His, NP_001373090.1:p.Asp1111Tyr, NP_001373080.1:p.Asp1038His, NP_001373080.1:p.Asp1038Tyr, NP_001373082.1:p.Asp1071His, NP_001373082.1:p.Asp1071Tyr, NP_001373083.1:p.Asp1066His, NP_001373083.1:p.Asp1066Tyr, NP_001373085.1:p.Asp1046His, NP_001373085.1:p.Asp1046Tyr, NP_001373091.1:p.Asp1071His, NP_001373091.1:p.Asp1071Tyr, NP_001373086.1:p.Asp1005His, NP_001373086.1:p.Asp1005Tyr, NP_001373087.1:p.Asp972His, NP_001373087.1:p.Asp972Tyr

                                        20.

                                        rs1475854507 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          4:113318598 (GRCh38)
                                          4:114239754 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:113318597:T:C
                                          Gene:
                                          ANK2 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000011/3 (TOPMED)
                                          HGVS:
                                          NC_000004.12:g.113318598T>C, NC_000004.11:g.114239754T>C, NG_009006.2:g.505516T>C, NM_001148.6:c.2878T>C, NM_001148.5:c.2878T>C, NM_001148.4:c.2878T>C, NM_020977.5:c.2878T>C, NM_020977.4:c.2878T>C, NM_020977.3:c.2878T>C, NM_001127493.3:c.2815T>C, NM_001127493.2:c.2815T>C, NM_001127493.1:c.2815T>C, NM_001354269.3:c.2665T>C, NM_001354269.2:c.2665T>C, NM_001354269.1:c.2665T>C, NM_001354225.2:c.2890T>C, NM_001354225.1:c.2890T>C, NM_001354228.2:c.2878T>C, NM_001354228.1:c.2878T>C, NM_001354232.2:c.2878T>C, NM_001354232.1:c.2878T>C, NM_001354230.2:c.2920T>C, NM_001354230.1:c.2920T>C, NM_001354231.2:c.2920T>C, NM_001354231.1:c.2920T>C, NM_001354235.2:c.2875T>C, NM_001354235.1:c.2875T>C, NM_001354236.2:c.2875T>C, NM_001354236.1:c.2875T>C, NM_001354241.2:c.2923T>C, NM_001354241.1:c.2923T>C, NM_001354237.2:c.2920T>C, NM_001354237.1:c.2920T>C, NM_001354245.2:c.2779T>C, NM_001354245.1:c.2779T>C, NM_001354240.2:c.2923T>C, NM_001354240.1:c.2923T>C, NM_001354242.2:c.2920T>C, NM_001354242.1:c.2920T>C, NM_001354246.2:c.2875T>C, NM_001354246.1:c.2875T>C, NM_001354239.2:c.2812T>C, NM_001354239.1:c.2812T>C, NM_001354243.2:c.2815T>C, NM_001354243.1:c.2815T>C, NM_001354244.2:c.2812T>C, NM_001354244.1:c.2812T>C, NM_001354258.2:c.2878T>C, NM_001354258.1:c.2878T>C, NM_001354249.2:c.2791T>C, NM_001354249.1:c.2791T>C, NM_001354252.2:c.2812T>C, NM_001354252.1:c.2812T>C, NM_001354253.2:c.2716T>C, NM_001354253.1:c.2716T>C, NM_001354254.2:c.2827T>C, NM_001354254.1:c.2827T>C, NM_001354265.2:c.2875T>C, NM_001354265.1:c.2875T>C, NM_001354255.2:c.2815T>C, NM_001354255.1:c.2815T>C, NM_001354256.2:c.2812T>C, NM_001354256.1:c.2812T>C, NM_001354257.2:c.2716T>C, NM_001354257.1:c.2716T>C, NM_001354268.2:c.2779T>C, NM_001354268.1:c.2779T>C, NM_001386186.2:c.2863T>C, NM_001386186.1:c.2863T>C, NM_001354260.2:c.2692T>C, NM_001354260.1:c.2692T>C, NM_001354261.2:c.2836T>C, NM_001354261.1:c.2836T>C, NM_001354262.2:c.2815T>C, NM_001354262.1:c.2815T>C, NM_001354264.2:c.2791T>C, NM_001354264.1:c.2791T>C, NM_001354273.2:c.2677T>C, NM_001354273.1:c.2677T>C, NM_001354266.2:c.2791T>C, NM_001354266.1:c.2791T>C, NM_001354267.2:c.2791T>C, NM_001354267.1:c.2791T>C, NM_001354270.2:c.2716T>C, NM_001354270.1:c.2716T>C, NM_001386148.2:c.2863T>C, NM_001386148.1:c.2863T>C, NM_001354272.2:c.2812T>C, NM_001354272.1:c.2812T>C, NM_001354271.2:c.2692T>C, NM_001354271.1:c.2692T>C, NM_001354274.2:c.2776T>C, NM_001354274.1:c.2776T>C, NM_001354275.2:c.2815T>C, NM_001354275.1:c.2815T>C, NM_001354276.2:c.2791T>C, NM_001354276.1:c.2791T>C, NM_001386187.2:c.2842T>C, NM_001386187.1:c.2842T>C, NM_001354277.2:c.2593T>C, NM_001354277.1:c.2593T>C, NM_001354278.2:c.505T>C, NM_001354278.1:c.505T>C, NM_001354279.2:c.505T>C, NM_001354279.1:c.505T>C, NM_001354280.2:c.505T>C, NM_001354280.1:c.505T>C, NM_001354281.2:c.505T>C, NM_001354281.1:c.505T>C, NM_001354282.2:c.505T>C, NM_001354282.1:c.505T>C, NM_001386174.1:c.2983T>C, NM_001386175.1:c.2959T>C, NM_001386142.1:c.2776T>C, NM_001386144.1:c.2923T>C, NM_001386143.1:c.2815T>C, NM_001386146.1:c.2791T>C, NM_001386160.1:c.2821T>C, NM_001386147.1:c.2836T>C, NM_001386149.1:c.2791T>C, NM_001386152.1:c.2935T>C, NM_001386150.1:c.2791T>C, NM_001386161.1:c.2812T>C, NM_001386151.1:c.2692T>C, NM_001386153.1:c.2791T>C, NM_001386154.1:c.2776T>C, NM_001386156.1:c.2716T>C, NM_001386162.1:c.2791T>C, NM_001386157.1:c.2593T>C, NM_001386158.1:c.2494T>C, NM_001386173.1:c.2881T>C, NP_001139.3:p.Ser960Pro, NP_066187.2:p.Ser960Pro, NP_001120965.1:p.Ser939Pro, NP_001341198.1:p.Ser889Pro, NP_001341154.1:p.Ser964Pro, NP_001341157.1:p.Ser960Pro, NP_001341161.1:p.Ser960Pro, NP_001341159.1:p.Ser974Pro, NP_001341160.1:p.Ser974Pro, NP_001341164.1:p.Ser959Pro, NP_001341165.1:p.Ser959Pro, NP_001341170.1:p.Ser975Pro, NP_001341166.1:p.Ser974Pro, NP_001341174.1:p.Ser927Pro, NP_001341169.1:p.Ser975Pro, NP_001341171.1:p.Ser974Pro, NP_001341175.1:p.Ser959Pro, NP_001341168.1:p.Ser938Pro, NP_001341172.1:p.Ser939Pro, NP_001341173.1:p.Ser938Pro, NP_001341187.1:p.Ser960Pro, NP_001341178.1:p.Ser931Pro, NP_001341181.1:p.Ser938Pro, NP_001341182.1:p.Ser906Pro, NP_001341183.1:p.Ser943Pro, NP_001341194.1:p.Ser959Pro, NP_001341184.1:p.Ser939Pro, NP_001341185.1:p.Ser938Pro, NP_001341186.1:p.Ser906Pro, NP_001341197.1:p.Ser927Pro, NP_001373115.1:p.Ser955Pro, NP_001341189.1:p.Ser898Pro, NP_001341190.1:p.Ser946Pro, NP_001341191.1:p.Ser939Pro, NP_001341193.1:p.Ser931Pro, NP_001341202.1:p.Ser893Pro, NP_001341195.1:p.Ser931Pro, NP_001341196.1:p.Ser931Pro, NP_001341199.1:p.Ser906Pro, NP_001373077.1:p.Ser955Pro, NP_001341201.1:p.Ser938Pro, NP_001341200.1:p.Ser898Pro, NP_001341203.1:p.Ser926Pro, NP_001341204.1:p.Ser939Pro, NP_001341205.1:p.Ser931Pro, NP_001373116.1:p.Ser948Pro, NP_001341206.1:p.Ser865Pro, NP_001341207.1:p.Ser169Pro, NP_001341208.1:p.Ser169Pro, NP_001341209.1:p.Ser169Pro, NP_001341210.1:p.Ser169Pro, NP_001341211.1:p.Ser169Pro, NP_001373103.1:p.Ser995Pro, NP_001373104.1:p.Ser987Pro, NP_001373071.1:p.Ser926Pro, NP_001373073.1:p.Ser975Pro, NP_001373072.1:p.Ser939Pro, NP_001373075.1:p.Ser931Pro, NP_001373089.1:p.Ser941Pro, NP_001373076.1:p.Ser946Pro, NP_001373078.1:p.Ser931Pro, NP_001373081.1:p.Ser979Pro, NP_001373079.1:p.Ser931Pro, NP_001373090.1:p.Ser938Pro, NP_001373080.1:p.Ser898Pro, NP_001373082.1:p.Ser931Pro, NP_001373083.1:p.Ser926Pro, NP_001373085.1:p.Ser906Pro, NP_001373091.1:p.Ser931Pro, NP_001373086.1:p.Ser865Pro, NP_001373087.1:p.Ser832Pro

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