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Items: 1 to 20 of 182

1.

rs1482686616 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    4:40827208 (GRCh38)
    4:40829225 (GRCh37)
    Canonical SPDI:
    NC_000004.12:40827207:T:G
    Gene:
    APBB2 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000004.12:g.40827208T>G, NC_000004.11:g.40829225T>G, NG_013337.1:g.392411A>C, NM_173075.5:c.1590A>C, NM_173075.4:c.1590A>C, NM_004307.2:c.1656A>C, NM_004307.1:c.1656A>C, NM_001166050.2:c.1653A>C, NM_001166050.1:c.1653A>C, NM_001330656.2:c.1590A>C, NM_001330656.1:c.1590A>C, NM_001330658.2:c.1590A>C, NM_001330658.1:c.1590A>C, NM_001166051.2:c.9A>C, NM_001166051.1:c.9A>C, NM_001166052.2:c.9A>C, NM_001166052.1:c.9A>C, NM_001166053.1:c.9A>C, NM_001166054.1:c.9A>C, XM_006714005.5:c.1662A>C, XM_006714005.4:c.1662A>C, XM_006714005.3:c.1662A>C, XM_006714005.2:c.1662A>C, XM_006714005.1:c.1662A>C, XM_006714010.5:c.1659A>C, XM_006714010.4:c.1659A>C, XM_006714010.3:c.1659A>C, XM_006714010.2:c.1659A>C, XM_006714010.1:c.1659A>C, XM_006714011.5:c.1599A>C, XM_006714011.4:c.1599A>C, XM_006714011.3:c.1599A>C, XM_006714011.2:c.1599A>C, XM_006714011.1:c.1599A>C, XM_006714012.5:c.1596A>C, XM_006714012.4:c.1596A>C, XM_006714012.3:c.1596A>C, XM_006714012.2:c.1596A>C, XM_006714012.1:c.1596A>C, XM_006714008.5:c.1662A>C, XM_006714008.4:c.1662A>C, XM_006714008.3:c.1662A>C, XM_006714008.2:c.1662A>C, XM_006714008.1:c.1662A>C, XM_011513687.4:c.1593A>C, XM_011513687.3:c.1593A>C, XM_011513687.2:c.1593A>C, XM_011513687.1:c.1593A>C, XM_017008146.3:c.1611A>C, XM_017008146.2:c.1611A>C, XM_017008146.1:c.1611A>C, XM_017008144.3:c.1659A>C, XM_017008144.2:c.1659A>C, XM_017008144.1:c.1659A>C, XM_017008145.3:c.1656A>C, XM_017008145.2:c.1656A>C, XM_017008145.1:c.1656A>C, XM_017008151.3:c.1599A>C, XM_017008151.2:c.1599A>C, XM_017008151.1:c.1599A>C, XM_017008152.3:c.1596A>C, XM_017008152.2:c.1596A>C, XM_017008152.1:c.1596A>C, XM_017008154.3:c.1593A>C, XM_017008154.2:c.1593A>C, XM_017008154.1:c.1593A>C, XM_017008148.3:c.1611A>C, XM_017008148.2:c.1611A>C, XM_017008148.1:c.1611A>C, XM_047450160.1:c.1662A>C, XM_047450167.1:c.1659A>C, XM_047450171.1:c.1656A>C, XM_047450177.1:c.1653A>C, XM_047450182.1:c.1596A>C, XM_047450185.1:c.1593A>C, XM_047450189.1:c.1590A>C, XM_047450162.1:c.1662A>C, XM_047450168.1:c.1659A>C, XM_047450174.1:c.1656A>C, XM_047450163.1:c.1662A>C, XM_047450178.1:c.1653A>C, XM_047450159.1:c.1662A>C, XM_047450170.1:c.1659A>C, XM_047450172.1:c.1656A>C, XM_047450179.1:c.1653A>C, XM_047450161.1:c.1662A>C, XM_047450166.1:c.1659A>C, XM_047450173.1:c.1656A>C, XM_047450180.1:c.1653A>C, XM_047450183.1:c.1596A>C, XM_047450184.1:c.1596A>C, XM_047450186.1:c.1593A>C, XM_047450190.1:c.1590A>C, XM_047450164.1:c.1662A>C, XM_047450169.1:c.1659A>C, XM_047450175.1:c.1656A>C, XM_047450181.1:c.1653A>C, XM_047450187.1:c.1593A>C, XM_047450191.1:c.1590A>C, XM_047450165.1:c.1662A>C, XM_047450176.1:c.1656A>C, XM_047450188.1:c.1593A>C, NP_775098.2:p.Glu530Asp, NP_004298.1:p.Glu552Asp, NP_001159522.1:p.Glu551Asp, NP_001317585.1:p.Glu530Asp, NP_001317587.1:p.Glu530Asp, NP_001159523.1:p.Glu3Asp, NP_001159524.1:p.Glu3Asp, NP_001159525.1:p.Glu3Asp, NP_001159526.1:p.Glu3Asp, XP_006714068.1:p.Glu554Asp, XP_006714073.1:p.Glu553Asp, XP_006714074.1:p.Glu533Asp, XP_006714075.1:p.Glu532Asp, XP_006714071.1:p.Glu554Asp, XP_011511989.1:p.Glu531Asp, XP_016863635.1:p.Glu537Asp, XP_016863633.1:p.Glu553Asp, XP_016863634.1:p.Glu552Asp, XP_016863640.1:p.Glu533Asp, XP_016863641.1:p.Glu532Asp, XP_016863643.1:p.Glu531Asp, XP_016863637.1:p.Glu537Asp, XP_047306116.1:p.Glu554Asp, XP_047306123.1:p.Glu553Asp, XP_047306127.1:p.Glu552Asp, XP_047306133.1:p.Glu551Asp, XP_047306138.1:p.Glu532Asp, XP_047306141.1:p.Glu531Asp, XP_047306145.1:p.Glu530Asp, XP_047306118.1:p.Glu554Asp, XP_047306124.1:p.Glu553Asp, XP_047306130.1:p.Glu552Asp, XP_047306119.1:p.Glu554Asp, XP_047306134.1:p.Glu551Asp, XP_047306115.1:p.Glu554Asp, XP_047306126.1:p.Glu553Asp, XP_047306128.1:p.Glu552Asp, XP_047306135.1:p.Glu551Asp, XP_047306117.1:p.Glu554Asp, XP_047306122.1:p.Glu553Asp, XP_047306129.1:p.Glu552Asp, XP_047306136.1:p.Glu551Asp, XP_047306139.1:p.Glu532Asp, XP_047306140.1:p.Glu532Asp, XP_047306142.1:p.Glu531Asp, XP_047306146.1:p.Glu530Asp, XP_047306120.1:p.Glu554Asp, XP_047306125.1:p.Glu553Asp, XP_047306131.1:p.Glu552Asp, XP_047306137.1:p.Glu551Asp, XP_047306143.1:p.Glu531Asp, XP_047306147.1:p.Glu530Asp, XP_047306121.1:p.Glu554Asp, XP_047306132.1:p.Glu552Asp, XP_047306144.1:p.Glu531Asp

    2.

    rs1480172304 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      4:40823702 (GRCh38)
      4:40825719 (GRCh37)
      Canonical SPDI:
      NC_000004.12:40823701:T:C
      Gene:
      APBB2 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000071/1 (ALFA)
      C=0.000011/3 (TOPMED)
      C=0.000014/2 (GnomAD)
      HGVS:
      NC_000004.12:g.40823702T>C, NC_000004.11:g.40825719T>C, NG_013337.1:g.395917A>G, NM_173075.5:c.1805A>G, NM_173075.4:c.1805A>G, NM_004307.2:c.1874A>G, NM_004307.1:c.1874A>G, NM_001166050.2:c.1871A>G, NM_001166050.1:c.1871A>G, NM_001330656.2:c.1808A>G, NM_001330656.1:c.1808A>G, NM_001330658.2:c.1808A>G, NM_001330658.1:c.1808A>G, NM_001166051.2:c.227A>G, NM_001166051.1:c.227A>G, NM_001166052.2:c.227A>G, NM_001166052.1:c.227A>G, NM_001166053.1:c.227A>G, NM_001166054.1:c.227A>G, XM_006714005.5:c.1880A>G, XM_006714005.4:c.1880A>G, XM_006714005.3:c.1880A>G, XM_006714005.2:c.1880A>G, XM_006714005.1:c.1880A>G, XM_006714010.5:c.1877A>G, XM_006714010.4:c.1877A>G, XM_006714010.3:c.1877A>G, XM_006714010.2:c.1877A>G, XM_006714010.1:c.1877A>G, XM_006714011.5:c.1817A>G, XM_006714011.4:c.1817A>G, XM_006714011.3:c.1817A>G, XM_006714011.2:c.1817A>G, XM_006714011.1:c.1817A>G, XM_006714012.5:c.1814A>G, XM_006714012.4:c.1814A>G, XM_006714012.3:c.1814A>G, XM_006714012.2:c.1814A>G, XM_006714012.1:c.1814A>G, XM_006714008.5:c.1880A>G, XM_006714008.4:c.1880A>G, XM_006714008.3:c.1880A>G, XM_006714008.2:c.1880A>G, XM_006714008.1:c.1880A>G, XM_011513687.4:c.1811A>G, XM_011513687.3:c.1811A>G, XM_011513687.2:c.1811A>G, XM_011513687.1:c.1811A>G, XM_017008146.3:c.1829A>G, XM_017008146.2:c.1829A>G, XM_017008146.1:c.1829A>G, XM_017008144.3:c.1877A>G, XM_017008144.2:c.1877A>G, XM_017008144.1:c.1877A>G, XM_017008145.3:c.1874A>G, XM_017008145.2:c.1874A>G, XM_017008145.1:c.1874A>G, XM_017008151.3:c.1817A>G, XM_017008151.2:c.1817A>G, XM_017008151.1:c.1817A>G, XM_017008152.3:c.1814A>G, XM_017008152.2:c.1814A>G, XM_017008152.1:c.1814A>G, XM_017008154.3:c.1811A>G, XM_017008154.2:c.1811A>G, XM_017008154.1:c.1811A>G, XM_017008148.3:c.1829A>G, XM_017008148.2:c.1829A>G, XM_017008148.1:c.1829A>G, XM_047450160.1:c.1880A>G, XM_047450167.1:c.1877A>G, XM_047450171.1:c.1874A>G, XM_047450177.1:c.1871A>G, XM_047450182.1:c.1814A>G, XM_047450185.1:c.1811A>G, XM_047450189.1:c.1808A>G, XM_047450162.1:c.1880A>G, XM_047450168.1:c.1877A>G, XM_047450174.1:c.1874A>G, XM_047450163.1:c.1880A>G, XM_047450178.1:c.1871A>G, XM_047450159.1:c.1880A>G, XM_047450170.1:c.1877A>G, XM_047450172.1:c.1874A>G, XM_047450179.1:c.1871A>G, XM_047450161.1:c.1880A>G, XM_047450166.1:c.1877A>G, XM_047450173.1:c.1874A>G, XM_047450180.1:c.1871A>G, XM_047450183.1:c.1814A>G, XM_047450184.1:c.1814A>G, XM_047450186.1:c.1811A>G, XM_047450190.1:c.1808A>G, XM_047450164.1:c.1880A>G, XM_047450169.1:c.1877A>G, XM_047450175.1:c.1874A>G, XM_047450181.1:c.1871A>G, XM_047450187.1:c.1811A>G, XM_047450191.1:c.1808A>G, XM_047450165.1:c.1880A>G, XM_047450176.1:c.1874A>G, XM_047450188.1:c.1811A>G, NP_775098.2:p.Asp602Gly, NP_004298.1:p.Asp625Gly, NP_001159522.1:p.Asp624Gly, NP_001317585.1:p.Asp603Gly, NP_001317587.1:p.Asp603Gly, NP_001159523.1:p.Asp76Gly, NP_001159524.1:p.Asp76Gly, NP_001159525.1:p.Asp76Gly, NP_001159526.1:p.Asp76Gly, XP_006714068.1:p.Asp627Gly, XP_006714073.1:p.Asp626Gly, XP_006714074.1:p.Asp606Gly, XP_006714075.1:p.Asp605Gly, XP_006714071.1:p.Asp627Gly, XP_011511989.1:p.Asp604Gly, XP_016863635.1:p.Asp610Gly, XP_016863633.1:p.Asp626Gly, XP_016863634.1:p.Asp625Gly, XP_016863640.1:p.Asp606Gly, XP_016863641.1:p.Asp605Gly, XP_016863643.1:p.Asp604Gly, XP_016863637.1:p.Asp610Gly, XP_047306116.1:p.Asp627Gly, XP_047306123.1:p.Asp626Gly, XP_047306127.1:p.Asp625Gly, XP_047306133.1:p.Asp624Gly, XP_047306138.1:p.Asp605Gly, XP_047306141.1:p.Asp604Gly, XP_047306145.1:p.Asp603Gly, XP_047306118.1:p.Asp627Gly, XP_047306124.1:p.Asp626Gly, XP_047306130.1:p.Asp625Gly, XP_047306119.1:p.Asp627Gly, XP_047306134.1:p.Asp624Gly, XP_047306115.1:p.Asp627Gly, XP_047306126.1:p.Asp626Gly, XP_047306128.1:p.Asp625Gly, XP_047306135.1:p.Asp624Gly, XP_047306117.1:p.Asp627Gly, XP_047306122.1:p.Asp626Gly, XP_047306129.1:p.Asp625Gly, XP_047306136.1:p.Asp624Gly, XP_047306139.1:p.Asp605Gly, XP_047306140.1:p.Asp605Gly, XP_047306142.1:p.Asp604Gly, XP_047306146.1:p.Asp603Gly, XP_047306120.1:p.Asp627Gly, XP_047306125.1:p.Asp626Gly, XP_047306131.1:p.Asp625Gly, XP_047306137.1:p.Asp624Gly, XP_047306143.1:p.Asp604Gly, XP_047306147.1:p.Asp603Gly, XP_047306121.1:p.Asp627Gly, XP_047306132.1:p.Asp625Gly, XP_047306144.1:p.Asp604Gly

      3.

      rs1476184305 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        4:40821879 (GRCh38)
        4:40823896 (GRCh37)
        Canonical SPDI:
        NC_000004.12:40821878:C:T
        Gene:
        APBB2 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000004.12:g.40821879C>T, NC_000004.11:g.40823896C>T, NG_013337.1:g.397740G>A, NM_173075.5:c.2035G>A, NM_173075.4:c.2035G>A, NM_004307.2:c.2104G>A, NM_004307.1:c.2104G>A, NM_001166050.2:c.2101G>A, NM_001166050.1:c.2101G>A, NM_001330656.2:c.2038G>A, NM_001330656.1:c.2038G>A, NM_001330658.2:c.2038G>A, NM_001330658.1:c.2038G>A, NM_001166051.2:c.457G>A, NM_001166051.1:c.457G>A, NM_001166052.2:c.457G>A, NM_001166052.1:c.457G>A, NM_001166053.1:c.457G>A, NM_001166054.1:c.457G>A, XM_006714005.5:c.2110G>A, XM_006714005.4:c.2110G>A, XM_006714005.3:c.2110G>A, XM_006714005.2:c.2110G>A, XM_006714005.1:c.2110G>A, XM_006714010.5:c.2107G>A, XM_006714010.4:c.2107G>A, XM_006714010.3:c.2107G>A, XM_006714010.2:c.2107G>A, XM_006714010.1:c.2107G>A, XM_006714011.5:c.2047G>A, XM_006714011.4:c.2047G>A, XM_006714011.3:c.2047G>A, XM_006714011.2:c.2047G>A, XM_006714011.1:c.2047G>A, XM_006714012.5:c.2044G>A, XM_006714012.4:c.2044G>A, XM_006714012.3:c.2044G>A, XM_006714012.2:c.2044G>A, XM_006714012.1:c.2044G>A, XM_006714008.5:c.2110G>A, XM_006714008.4:c.2110G>A, XM_006714008.3:c.2110G>A, XM_006714008.2:c.2110G>A, XM_006714008.1:c.2110G>A, XM_011513687.4:c.2041G>A, XM_011513687.3:c.2041G>A, XM_011513687.2:c.2041G>A, XM_011513687.1:c.2041G>A, XM_017008146.3:c.2059G>A, XM_017008146.2:c.2059G>A, XM_017008146.1:c.2059G>A, XM_017008144.3:c.2107G>A, XM_017008144.2:c.2107G>A, XM_017008144.1:c.2107G>A, XM_017008145.3:c.2104G>A, XM_017008145.2:c.2104G>A, XM_017008145.1:c.2104G>A, XM_017008151.3:c.2047G>A, XM_017008151.2:c.2047G>A, XM_017008151.1:c.2047G>A, XM_017008152.3:c.2044G>A, XM_017008152.2:c.2044G>A, XM_017008152.1:c.2044G>A, XM_017008154.3:c.2041G>A, XM_017008154.2:c.2041G>A, XM_017008154.1:c.2041G>A, XM_017008148.3:c.2059G>A, XM_017008148.2:c.2059G>A, XM_017008148.1:c.2059G>A, XM_047450160.1:c.2110G>A, XM_047450167.1:c.2107G>A, XM_047450171.1:c.2104G>A, XM_047450177.1:c.2101G>A, XM_047450182.1:c.2044G>A, XM_047450185.1:c.2041G>A, XM_047450189.1:c.2038G>A, XM_047450162.1:c.2110G>A, XM_047450168.1:c.2107G>A, XM_047450174.1:c.2104G>A, XM_047450163.1:c.2110G>A, XM_047450178.1:c.2101G>A, XM_047450159.1:c.2110G>A, XM_047450170.1:c.2107G>A, XM_047450172.1:c.2104G>A, XM_047450179.1:c.2101G>A, XM_047450161.1:c.2110G>A, XM_047450166.1:c.2107G>A, XM_047450173.1:c.2104G>A, XM_047450180.1:c.2101G>A, XM_047450183.1:c.2044G>A, XM_047450184.1:c.2044G>A, XM_047450186.1:c.2041G>A, XM_047450190.1:c.2038G>A, XM_047450164.1:c.2110G>A, XM_047450169.1:c.2107G>A, XM_047450175.1:c.2104G>A, XM_047450181.1:c.2101G>A, XM_047450187.1:c.2041G>A, XM_047450191.1:c.2038G>A, XM_047450165.1:c.2110G>A, XM_047450176.1:c.2104G>A, XM_047450188.1:c.2041G>A, NP_775098.2:p.Ala679Thr, NP_004298.1:p.Ala702Thr, NP_001159522.1:p.Ala701Thr, NP_001317585.1:p.Ala680Thr, NP_001317587.1:p.Ala680Thr, NP_001159523.1:p.Ala153Thr, NP_001159524.1:p.Ala153Thr, NP_001159525.1:p.Ala153Thr, NP_001159526.1:p.Ala153Thr, XP_006714068.1:p.Ala704Thr, XP_006714073.1:p.Ala703Thr, XP_006714074.1:p.Ala683Thr, XP_006714075.1:p.Ala682Thr, XP_006714071.1:p.Ala704Thr, XP_011511989.1:p.Ala681Thr, XP_016863635.1:p.Ala687Thr, XP_016863633.1:p.Ala703Thr, XP_016863634.1:p.Ala702Thr, XP_016863640.1:p.Ala683Thr, XP_016863641.1:p.Ala682Thr, XP_016863643.1:p.Ala681Thr, XP_016863637.1:p.Ala687Thr, XP_047306116.1:p.Ala704Thr, XP_047306123.1:p.Ala703Thr, XP_047306127.1:p.Ala702Thr, XP_047306133.1:p.Ala701Thr, XP_047306138.1:p.Ala682Thr, XP_047306141.1:p.Ala681Thr, XP_047306145.1:p.Ala680Thr, XP_047306118.1:p.Ala704Thr, XP_047306124.1:p.Ala703Thr, XP_047306130.1:p.Ala702Thr, XP_047306119.1:p.Ala704Thr, XP_047306134.1:p.Ala701Thr, XP_047306115.1:p.Ala704Thr, XP_047306126.1:p.Ala703Thr, XP_047306128.1:p.Ala702Thr, XP_047306135.1:p.Ala701Thr, XP_047306117.1:p.Ala704Thr, XP_047306122.1:p.Ala703Thr, XP_047306129.1:p.Ala702Thr, XP_047306136.1:p.Ala701Thr, XP_047306139.1:p.Ala682Thr, XP_047306140.1:p.Ala682Thr, XP_047306142.1:p.Ala681Thr, XP_047306146.1:p.Ala680Thr, XP_047306120.1:p.Ala704Thr, XP_047306125.1:p.Ala703Thr, XP_047306131.1:p.Ala702Thr, XP_047306137.1:p.Ala701Thr, XP_047306143.1:p.Ala681Thr, XP_047306147.1:p.Ala680Thr, XP_047306121.1:p.Ala704Thr, XP_047306132.1:p.Ala702Thr, XP_047306144.1:p.Ala681Thr

        4.

        rs1476135957 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          4:40827161 (GRCh38)
          4:40829178 (GRCh37)
          Canonical SPDI:
          NC_000004.12:40827160:G:T
          Gene:
          APBB2 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000004.12:g.40827161G>T, NC_000004.11:g.40829178G>T, NG_013337.1:g.392458C>A, NM_173075.5:c.1637C>A, NM_173075.4:c.1637C>A, NM_004307.2:c.1703C>A, NM_004307.1:c.1703C>A, NM_001166050.2:c.1700C>A, NM_001166050.1:c.1700C>A, NM_001330656.2:c.1637C>A, NM_001330656.1:c.1637C>A, NM_001330658.2:c.1637C>A, NM_001330658.1:c.1637C>A, NM_001166051.2:c.56C>A, NM_001166051.1:c.56C>A, NM_001166052.2:c.56C>A, NM_001166052.1:c.56C>A, NM_001166053.1:c.56C>A, NM_001166054.1:c.56C>A, XM_006714005.5:c.1709C>A, XM_006714005.4:c.1709C>A, XM_006714005.3:c.1709C>A, XM_006714005.2:c.1709C>A, XM_006714005.1:c.1709C>A, XM_006714010.5:c.1706C>A, XM_006714010.4:c.1706C>A, XM_006714010.3:c.1706C>A, XM_006714010.2:c.1706C>A, XM_006714010.1:c.1706C>A, XM_006714011.5:c.1646C>A, XM_006714011.4:c.1646C>A, XM_006714011.3:c.1646C>A, XM_006714011.2:c.1646C>A, XM_006714011.1:c.1646C>A, XM_006714012.5:c.1643C>A, XM_006714012.4:c.1643C>A, XM_006714012.3:c.1643C>A, XM_006714012.2:c.1643C>A, XM_006714012.1:c.1643C>A, XM_006714008.5:c.1709C>A, XM_006714008.4:c.1709C>A, XM_006714008.3:c.1709C>A, XM_006714008.2:c.1709C>A, XM_006714008.1:c.1709C>A, XM_011513687.4:c.1640C>A, XM_011513687.3:c.1640C>A, XM_011513687.2:c.1640C>A, XM_011513687.1:c.1640C>A, XM_017008146.3:c.1658C>A, XM_017008146.2:c.1658C>A, XM_017008146.1:c.1658C>A, XM_017008144.3:c.1706C>A, XM_017008144.2:c.1706C>A, XM_017008144.1:c.1706C>A, XM_017008145.3:c.1703C>A, XM_017008145.2:c.1703C>A, XM_017008145.1:c.1703C>A, XM_017008151.3:c.1646C>A, XM_017008151.2:c.1646C>A, XM_017008151.1:c.1646C>A, XM_017008152.3:c.1643C>A, XM_017008152.2:c.1643C>A, XM_017008152.1:c.1643C>A, XM_017008154.3:c.1640C>A, XM_017008154.2:c.1640C>A, XM_017008154.1:c.1640C>A, XM_017008148.3:c.1658C>A, XM_017008148.2:c.1658C>A, XM_017008148.1:c.1658C>A, XM_047450160.1:c.1709C>A, XM_047450167.1:c.1706C>A, XM_047450171.1:c.1703C>A, XM_047450177.1:c.1700C>A, XM_047450182.1:c.1643C>A, XM_047450185.1:c.1640C>A, XM_047450189.1:c.1637C>A, XM_047450162.1:c.1709C>A, XM_047450168.1:c.1706C>A, XM_047450174.1:c.1703C>A, XM_047450163.1:c.1709C>A, XM_047450178.1:c.1700C>A, XM_047450159.1:c.1709C>A, XM_047450170.1:c.1706C>A, XM_047450172.1:c.1703C>A, XM_047450179.1:c.1700C>A, XM_047450161.1:c.1709C>A, XM_047450166.1:c.1706C>A, XM_047450173.1:c.1703C>A, XM_047450180.1:c.1700C>A, XM_047450183.1:c.1643C>A, XM_047450184.1:c.1643C>A, XM_047450186.1:c.1640C>A, XM_047450190.1:c.1637C>A, XM_047450164.1:c.1709C>A, XM_047450169.1:c.1706C>A, XM_047450175.1:c.1703C>A, XM_047450181.1:c.1700C>A, XM_047450187.1:c.1640C>A, XM_047450191.1:c.1637C>A, XM_047450165.1:c.1709C>A, XM_047450176.1:c.1703C>A, XM_047450188.1:c.1640C>A, NP_775098.2:p.Ala546Asp, NP_004298.1:p.Ala568Asp, NP_001159522.1:p.Ala567Asp, NP_001317585.1:p.Ala546Asp, NP_001317587.1:p.Ala546Asp, NP_001159523.1:p.Ala19Asp, NP_001159524.1:p.Ala19Asp, NP_001159525.1:p.Ala19Asp, NP_001159526.1:p.Ala19Asp, XP_006714068.1:p.Ala570Asp, XP_006714073.1:p.Ala569Asp, XP_006714074.1:p.Ala549Asp, XP_006714075.1:p.Ala548Asp, XP_006714071.1:p.Ala570Asp, XP_011511989.1:p.Ala547Asp, XP_016863635.1:p.Ala553Asp, XP_016863633.1:p.Ala569Asp, XP_016863634.1:p.Ala568Asp, XP_016863640.1:p.Ala549Asp, XP_016863641.1:p.Ala548Asp, XP_016863643.1:p.Ala547Asp, XP_016863637.1:p.Ala553Asp, XP_047306116.1:p.Ala570Asp, XP_047306123.1:p.Ala569Asp, XP_047306127.1:p.Ala568Asp, XP_047306133.1:p.Ala567Asp, XP_047306138.1:p.Ala548Asp, XP_047306141.1:p.Ala547Asp, XP_047306145.1:p.Ala546Asp, XP_047306118.1:p.Ala570Asp, XP_047306124.1:p.Ala569Asp, XP_047306130.1:p.Ala568Asp, XP_047306119.1:p.Ala570Asp, XP_047306134.1:p.Ala567Asp, XP_047306115.1:p.Ala570Asp, XP_047306126.1:p.Ala569Asp, XP_047306128.1:p.Ala568Asp, XP_047306135.1:p.Ala567Asp, XP_047306117.1:p.Ala570Asp, XP_047306122.1:p.Ala569Asp, XP_047306129.1:p.Ala568Asp, XP_047306136.1:p.Ala567Asp, XP_047306139.1:p.Ala548Asp, XP_047306140.1:p.Ala548Asp, XP_047306142.1:p.Ala547Asp, XP_047306146.1:p.Ala546Asp, XP_047306120.1:p.Ala570Asp, XP_047306125.1:p.Ala569Asp, XP_047306131.1:p.Ala568Asp, XP_047306137.1:p.Ala567Asp, XP_047306143.1:p.Ala547Asp, XP_047306147.1:p.Ala546Asp, XP_047306121.1:p.Ala570Asp, XP_047306132.1:p.Ala568Asp, XP_047306144.1:p.Ala547Asp

          5.

          rs1460566186 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            4:40816111 (GRCh38)
            4:40818128 (GRCh37)
            Canonical SPDI:
            NC_000004.12:40816110:G:A
            Gene:
            APBB2 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000015/4 (TOPMED)
            HGVS:
            NC_000004.12:g.40816111G>A, NC_000004.11:g.40818128G>A, NG_013337.1:g.403508C>T, NM_173075.5:c.2192C>T, NM_173075.4:c.2192C>T, NM_004307.2:c.2261C>T, NM_004307.1:c.2261C>T, NM_001166050.2:c.2258C>T, NM_001166050.1:c.2258C>T, NM_001330656.2:c.2195C>T, NM_001330656.1:c.2195C>T, NM_001330658.2:c.2195C>T, NM_001330658.1:c.2195C>T, NM_001166051.2:c.614C>T, NM_001166051.1:c.614C>T, NM_001166052.2:c.614C>T, NM_001166052.1:c.614C>T, NM_001166053.1:c.614C>T, NM_001166054.1:c.614C>T, XM_006714005.5:c.2267C>T, XM_006714005.4:c.2267C>T, XM_006714005.3:c.2267C>T, XM_006714005.2:c.2267C>T, XM_006714005.1:c.2267C>T, XM_006714010.5:c.2264C>T, XM_006714010.4:c.2264C>T, XM_006714010.3:c.2264C>T, XM_006714010.2:c.2264C>T, XM_006714010.1:c.2264C>T, XM_006714011.5:c.2204C>T, XM_006714011.4:c.2204C>T, XM_006714011.3:c.2204C>T, XM_006714011.2:c.2204C>T, XM_006714011.1:c.2204C>T, XM_006714012.5:c.2201C>T, XM_006714012.4:c.2201C>T, XM_006714012.3:c.2201C>T, XM_006714012.2:c.2201C>T, XM_006714012.1:c.2201C>T, XM_006714008.5:c.2267C>T, XM_006714008.4:c.2267C>T, XM_006714008.3:c.2267C>T, XM_006714008.2:c.2267C>T, XM_006714008.1:c.2267C>T, XM_011513687.4:c.2198C>T, XM_011513687.3:c.2198C>T, XM_011513687.2:c.2198C>T, XM_011513687.1:c.2198C>T, XM_017008146.3:c.2216C>T, XM_017008146.2:c.2216C>T, XM_017008146.1:c.2216C>T, XM_017008144.3:c.2264C>T, XM_017008144.2:c.2264C>T, XM_017008144.1:c.2264C>T, XM_017008145.3:c.2261C>T, XM_017008145.2:c.2261C>T, XM_017008145.1:c.2261C>T, XM_017008151.3:c.2204C>T, XM_017008151.2:c.2204C>T, XM_017008151.1:c.2204C>T, XM_017008152.3:c.2201C>T, XM_017008152.2:c.2201C>T, XM_017008152.1:c.2201C>T, XM_017008154.3:c.2198C>T, XM_017008154.2:c.2198C>T, XM_017008154.1:c.2198C>T, XM_017008148.3:c.2216C>T, XM_017008148.2:c.2216C>T, XM_017008148.1:c.2216C>T, XM_047450160.1:c.2267C>T, XM_047450167.1:c.2264C>T, XM_047450171.1:c.2261C>T, XM_047450177.1:c.2258C>T, XM_047450182.1:c.2201C>T, XM_047450185.1:c.2198C>T, XM_047450189.1:c.2195C>T, XM_047450162.1:c.2267C>T, XM_047450168.1:c.2264C>T, XM_047450174.1:c.2261C>T, XM_047450163.1:c.2267C>T, XM_047450178.1:c.2258C>T, XM_047450159.1:c.2267C>T, XM_047450170.1:c.2264C>T, XM_047450172.1:c.2261C>T, XM_047450179.1:c.2258C>T, XM_047450161.1:c.2267C>T, XM_047450166.1:c.2264C>T, XM_047450173.1:c.2261C>T, XM_047450180.1:c.2258C>T, XM_047450183.1:c.2201C>T, XM_047450184.1:c.2201C>T, XM_047450186.1:c.2198C>T, XM_047450190.1:c.2195C>T, XM_047450164.1:c.2267C>T, XM_047450169.1:c.2264C>T, XM_047450175.1:c.2261C>T, XM_047450181.1:c.2258C>T, XM_047450187.1:c.2198C>T, XM_047450191.1:c.2195C>T, XM_047450165.1:c.2267C>T, XM_047450176.1:c.2261C>T, XM_047450188.1:c.2198C>T, NP_775098.2:p.Pro731Leu, NP_004298.1:p.Pro754Leu, NP_001159522.1:p.Pro753Leu, NP_001317585.1:p.Pro732Leu, NP_001317587.1:p.Pro732Leu, NP_001159523.1:p.Pro205Leu, NP_001159524.1:p.Pro205Leu, NP_001159525.1:p.Pro205Leu, NP_001159526.1:p.Pro205Leu, XP_006714068.1:p.Pro756Leu, XP_006714073.1:p.Pro755Leu, XP_006714074.1:p.Pro735Leu, XP_006714075.1:p.Pro734Leu, XP_006714071.1:p.Pro756Leu, XP_011511989.1:p.Pro733Leu, XP_016863635.1:p.Pro739Leu, XP_016863633.1:p.Pro755Leu, XP_016863634.1:p.Pro754Leu, XP_016863640.1:p.Pro735Leu, XP_016863641.1:p.Pro734Leu, XP_016863643.1:p.Pro733Leu, XP_016863637.1:p.Pro739Leu, XP_047306116.1:p.Pro756Leu, XP_047306123.1:p.Pro755Leu, XP_047306127.1:p.Pro754Leu, XP_047306133.1:p.Pro753Leu, XP_047306138.1:p.Pro734Leu, XP_047306141.1:p.Pro733Leu, XP_047306145.1:p.Pro732Leu, XP_047306118.1:p.Pro756Leu, XP_047306124.1:p.Pro755Leu, XP_047306130.1:p.Pro754Leu, XP_047306119.1:p.Pro756Leu, XP_047306134.1:p.Pro753Leu, XP_047306115.1:p.Pro756Leu, XP_047306126.1:p.Pro755Leu, XP_047306128.1:p.Pro754Leu, XP_047306135.1:p.Pro753Leu, XP_047306117.1:p.Pro756Leu, XP_047306122.1:p.Pro755Leu, XP_047306129.1:p.Pro754Leu, XP_047306136.1:p.Pro753Leu, XP_047306139.1:p.Pro734Leu, XP_047306140.1:p.Pro734Leu, XP_047306142.1:p.Pro733Leu, XP_047306146.1:p.Pro732Leu, XP_047306120.1:p.Pro756Leu, XP_047306125.1:p.Pro755Leu, XP_047306131.1:p.Pro754Leu, XP_047306137.1:p.Pro753Leu, XP_047306143.1:p.Pro733Leu, XP_047306147.1:p.Pro732Leu, XP_047306121.1:p.Pro756Leu, XP_047306132.1:p.Pro754Leu, XP_047306144.1:p.Pro733Leu

            6.

            rs1441236164 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              4:40827198 (GRCh38)
              4:40829215 (GRCh37)
              Canonical SPDI:
              NC_000004.12:40827197:C:G
              Gene:
              APBB2 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000008/2 (GnomAD_exomes)
              HGVS:
              NC_000004.12:g.40827198C>G, NC_000004.11:g.40829215C>G, NG_013337.1:g.392421G>C, NM_173075.5:c.1600G>C, NM_173075.4:c.1600G>C, NM_004307.2:c.1666G>C, NM_004307.1:c.1666G>C, NM_001166050.2:c.1663G>C, NM_001166050.1:c.1663G>C, NM_001330656.2:c.1600G>C, NM_001330656.1:c.1600G>C, NM_001330658.2:c.1600G>C, NM_001330658.1:c.1600G>C, NM_001166051.2:c.19G>C, NM_001166051.1:c.19G>C, NM_001166052.2:c.19G>C, NM_001166052.1:c.19G>C, NM_001166053.1:c.19G>C, NM_001166054.1:c.19G>C, XM_006714005.5:c.1672G>C, XM_006714005.4:c.1672G>C, XM_006714005.3:c.1672G>C, XM_006714005.2:c.1672G>C, XM_006714005.1:c.1672G>C, XM_006714010.5:c.1669G>C, XM_006714010.4:c.1669G>C, XM_006714010.3:c.1669G>C, XM_006714010.2:c.1669G>C, XM_006714010.1:c.1669G>C, XM_006714011.5:c.1609G>C, XM_006714011.4:c.1609G>C, XM_006714011.3:c.1609G>C, XM_006714011.2:c.1609G>C, XM_006714011.1:c.1609G>C, XM_006714012.5:c.1606G>C, XM_006714012.4:c.1606G>C, XM_006714012.3:c.1606G>C, XM_006714012.2:c.1606G>C, XM_006714012.1:c.1606G>C, XM_006714008.5:c.1672G>C, XM_006714008.4:c.1672G>C, XM_006714008.3:c.1672G>C, XM_006714008.2:c.1672G>C, XM_006714008.1:c.1672G>C, XM_011513687.4:c.1603G>C, XM_011513687.3:c.1603G>C, XM_011513687.2:c.1603G>C, XM_011513687.1:c.1603G>C, XM_017008146.3:c.1621G>C, XM_017008146.2:c.1621G>C, XM_017008146.1:c.1621G>C, XM_017008144.3:c.1669G>C, XM_017008144.2:c.1669G>C, XM_017008144.1:c.1669G>C, XM_017008145.3:c.1666G>C, XM_017008145.2:c.1666G>C, XM_017008145.1:c.1666G>C, XM_017008151.3:c.1609G>C, XM_017008151.2:c.1609G>C, XM_017008151.1:c.1609G>C, XM_017008152.3:c.1606G>C, XM_017008152.2:c.1606G>C, XM_017008152.1:c.1606G>C, XM_017008154.3:c.1603G>C, XM_017008154.2:c.1603G>C, XM_017008154.1:c.1603G>C, XM_017008148.3:c.1621G>C, XM_017008148.2:c.1621G>C, XM_017008148.1:c.1621G>C, XM_047450160.1:c.1672G>C, XM_047450167.1:c.1669G>C, XM_047450171.1:c.1666G>C, XM_047450177.1:c.1663G>C, XM_047450182.1:c.1606G>C, XM_047450185.1:c.1603G>C, XM_047450189.1:c.1600G>C, XM_047450162.1:c.1672G>C, XM_047450168.1:c.1669G>C, XM_047450174.1:c.1666G>C, XM_047450163.1:c.1672G>C, XM_047450178.1:c.1663G>C, XM_047450159.1:c.1672G>C, XM_047450170.1:c.1669G>C, XM_047450172.1:c.1666G>C, XM_047450179.1:c.1663G>C, XM_047450161.1:c.1672G>C, XM_047450166.1:c.1669G>C, XM_047450173.1:c.1666G>C, XM_047450180.1:c.1663G>C, XM_047450183.1:c.1606G>C, XM_047450184.1:c.1606G>C, XM_047450186.1:c.1603G>C, XM_047450190.1:c.1600G>C, XM_047450164.1:c.1672G>C, XM_047450169.1:c.1669G>C, XM_047450175.1:c.1666G>C, XM_047450181.1:c.1663G>C, XM_047450187.1:c.1603G>C, XM_047450191.1:c.1600G>C, XM_047450165.1:c.1672G>C, XM_047450176.1:c.1666G>C, XM_047450188.1:c.1603G>C, NP_775098.2:p.Ala534Pro, NP_004298.1:p.Ala556Pro, NP_001159522.1:p.Ala555Pro, NP_001317585.1:p.Ala534Pro, NP_001317587.1:p.Ala534Pro, NP_001159523.1:p.Ala7Pro, NP_001159524.1:p.Ala7Pro, NP_001159525.1:p.Ala7Pro, NP_001159526.1:p.Ala7Pro, XP_006714068.1:p.Ala558Pro, XP_006714073.1:p.Ala557Pro, XP_006714074.1:p.Ala537Pro, XP_006714075.1:p.Ala536Pro, XP_006714071.1:p.Ala558Pro, XP_011511989.1:p.Ala535Pro, XP_016863635.1:p.Ala541Pro, XP_016863633.1:p.Ala557Pro, XP_016863634.1:p.Ala556Pro, XP_016863640.1:p.Ala537Pro, XP_016863641.1:p.Ala536Pro, XP_016863643.1:p.Ala535Pro, XP_016863637.1:p.Ala541Pro, XP_047306116.1:p.Ala558Pro, XP_047306123.1:p.Ala557Pro, XP_047306127.1:p.Ala556Pro, XP_047306133.1:p.Ala555Pro, XP_047306138.1:p.Ala536Pro, XP_047306141.1:p.Ala535Pro, XP_047306145.1:p.Ala534Pro, XP_047306118.1:p.Ala558Pro, XP_047306124.1:p.Ala557Pro, XP_047306130.1:p.Ala556Pro, XP_047306119.1:p.Ala558Pro, XP_047306134.1:p.Ala555Pro, XP_047306115.1:p.Ala558Pro, XP_047306126.1:p.Ala557Pro, XP_047306128.1:p.Ala556Pro, XP_047306135.1:p.Ala555Pro, XP_047306117.1:p.Ala558Pro, XP_047306122.1:p.Ala557Pro, XP_047306129.1:p.Ala556Pro, XP_047306136.1:p.Ala555Pro, XP_047306139.1:p.Ala536Pro, XP_047306140.1:p.Ala536Pro, XP_047306142.1:p.Ala535Pro, XP_047306146.1:p.Ala534Pro, XP_047306120.1:p.Ala558Pro, XP_047306125.1:p.Ala557Pro, XP_047306131.1:p.Ala556Pro, XP_047306137.1:p.Ala555Pro, XP_047306143.1:p.Ala535Pro, XP_047306147.1:p.Ala534Pro, XP_047306121.1:p.Ala558Pro, XP_047306132.1:p.Ala556Pro, XP_047306144.1:p.Ala535Pro

              7.

              rs1437661276 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                4:40823664 (GRCh38)
                4:40825681 (GRCh37)
                Canonical SPDI:
                NC_000004.12:40823663:C:G
                Gene:
                APBB2 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                NC_000004.12:g.40823664C>G, NC_000004.11:g.40825681C>G, NG_013337.1:g.395955G>C, NM_173075.5:c.1843G>C, NM_173075.4:c.1843G>C, NM_004307.2:c.1912G>C, NM_004307.1:c.1912G>C, NM_001166050.2:c.1909G>C, NM_001166050.1:c.1909G>C, NM_001330656.2:c.1846G>C, NM_001330656.1:c.1846G>C, NM_001330658.2:c.1846G>C, NM_001330658.1:c.1846G>C, NM_001166051.2:c.265G>C, NM_001166051.1:c.265G>C, NM_001166052.2:c.265G>C, NM_001166052.1:c.265G>C, NM_001166053.1:c.265G>C, NM_001166054.1:c.265G>C, XM_006714005.5:c.1918G>C, XM_006714005.4:c.1918G>C, XM_006714005.3:c.1918G>C, XM_006714005.2:c.1918G>C, XM_006714005.1:c.1918G>C, XM_006714010.5:c.1915G>C, XM_006714010.4:c.1915G>C, XM_006714010.3:c.1915G>C, XM_006714010.2:c.1915G>C, XM_006714010.1:c.1915G>C, XM_006714011.5:c.1855G>C, XM_006714011.4:c.1855G>C, XM_006714011.3:c.1855G>C, XM_006714011.2:c.1855G>C, XM_006714011.1:c.1855G>C, XM_006714012.5:c.1852G>C, XM_006714012.4:c.1852G>C, XM_006714012.3:c.1852G>C, XM_006714012.2:c.1852G>C, XM_006714012.1:c.1852G>C, XM_006714008.5:c.1918G>C, XM_006714008.4:c.1918G>C, XM_006714008.3:c.1918G>C, XM_006714008.2:c.1918G>C, XM_006714008.1:c.1918G>C, XM_011513687.4:c.1849G>C, XM_011513687.3:c.1849G>C, XM_011513687.2:c.1849G>C, XM_011513687.1:c.1849G>C, XM_017008146.3:c.1867G>C, XM_017008146.2:c.1867G>C, XM_017008146.1:c.1867G>C, XM_017008144.3:c.1915G>C, XM_017008144.2:c.1915G>C, XM_017008144.1:c.1915G>C, XM_017008145.3:c.1912G>C, XM_017008145.2:c.1912G>C, XM_017008145.1:c.1912G>C, XM_017008151.3:c.1855G>C, XM_017008151.2:c.1855G>C, XM_017008151.1:c.1855G>C, XM_017008152.3:c.1852G>C, XM_017008152.2:c.1852G>C, XM_017008152.1:c.1852G>C, XM_017008154.3:c.1849G>C, XM_017008154.2:c.1849G>C, XM_017008154.1:c.1849G>C, XM_017008148.3:c.1867G>C, XM_017008148.2:c.1867G>C, XM_017008148.1:c.1867G>C, XM_047450160.1:c.1918G>C, XM_047450167.1:c.1915G>C, XM_047450171.1:c.1912G>C, XM_047450177.1:c.1909G>C, XM_047450182.1:c.1852G>C, XM_047450185.1:c.1849G>C, XM_047450189.1:c.1846G>C, XM_047450162.1:c.1918G>C, XM_047450168.1:c.1915G>C, XM_047450174.1:c.1912G>C, XM_047450163.1:c.1918G>C, XM_047450178.1:c.1909G>C, XM_047450159.1:c.1918G>C, XM_047450170.1:c.1915G>C, XM_047450172.1:c.1912G>C, XM_047450179.1:c.1909G>C, XM_047450161.1:c.1918G>C, XM_047450166.1:c.1915G>C, XM_047450173.1:c.1912G>C, XM_047450180.1:c.1909G>C, XM_047450183.1:c.1852G>C, XM_047450184.1:c.1852G>C, XM_047450186.1:c.1849G>C, XM_047450190.1:c.1846G>C, XM_047450164.1:c.1918G>C, XM_047450169.1:c.1915G>C, XM_047450175.1:c.1912G>C, XM_047450181.1:c.1909G>C, XM_047450187.1:c.1849G>C, XM_047450191.1:c.1846G>C, XM_047450165.1:c.1918G>C, XM_047450176.1:c.1912G>C, XM_047450188.1:c.1849G>C, NP_775098.2:p.Val615Leu, NP_004298.1:p.Val638Leu, NP_001159522.1:p.Val637Leu, NP_001317585.1:p.Val616Leu, NP_001317587.1:p.Val616Leu, NP_001159523.1:p.Val89Leu, NP_001159524.1:p.Val89Leu, NP_001159525.1:p.Val89Leu, NP_001159526.1:p.Val89Leu, XP_006714068.1:p.Val640Leu, XP_006714073.1:p.Val639Leu, XP_006714074.1:p.Val619Leu, XP_006714075.1:p.Val618Leu, XP_006714071.1:p.Val640Leu, XP_011511989.1:p.Val617Leu, XP_016863635.1:p.Val623Leu, XP_016863633.1:p.Val639Leu, XP_016863634.1:p.Val638Leu, XP_016863640.1:p.Val619Leu, XP_016863641.1:p.Val618Leu, XP_016863643.1:p.Val617Leu, XP_016863637.1:p.Val623Leu, XP_047306116.1:p.Val640Leu, XP_047306123.1:p.Val639Leu, XP_047306127.1:p.Val638Leu, XP_047306133.1:p.Val637Leu, XP_047306138.1:p.Val618Leu, XP_047306141.1:p.Val617Leu, XP_047306145.1:p.Val616Leu, XP_047306118.1:p.Val640Leu, XP_047306124.1:p.Val639Leu, XP_047306130.1:p.Val638Leu, XP_047306119.1:p.Val640Leu, XP_047306134.1:p.Val637Leu, XP_047306115.1:p.Val640Leu, XP_047306126.1:p.Val639Leu, XP_047306128.1:p.Val638Leu, XP_047306135.1:p.Val637Leu, XP_047306117.1:p.Val640Leu, XP_047306122.1:p.Val639Leu, XP_047306129.1:p.Val638Leu, XP_047306136.1:p.Val637Leu, XP_047306139.1:p.Val618Leu, XP_047306140.1:p.Val618Leu, XP_047306142.1:p.Val617Leu, XP_047306146.1:p.Val616Leu, XP_047306120.1:p.Val640Leu, XP_047306125.1:p.Val639Leu, XP_047306131.1:p.Val638Leu, XP_047306137.1:p.Val637Leu, XP_047306143.1:p.Val617Leu, XP_047306147.1:p.Val616Leu, XP_047306121.1:p.Val640Leu, XP_047306132.1:p.Val638Leu, XP_047306144.1:p.Val617Leu

                8.

                rs1436245169 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  4:40816165 (GRCh38)
                  4:40818182 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:40816164:G:A
                  Gene:
                  APBB2 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000004.12:g.40816165G>A, NC_000004.11:g.40818182G>A, NG_013337.1:g.403454C>T, NM_173075.5:c.2138C>T, NM_173075.4:c.2138C>T, NM_004307.2:c.2207C>T, NM_004307.1:c.2207C>T, NM_001166050.2:c.2204C>T, NM_001166050.1:c.2204C>T, NM_001330656.2:c.2141C>T, NM_001330656.1:c.2141C>T, NM_001330658.2:c.2141C>T, NM_001330658.1:c.2141C>T, NM_001166051.2:c.560C>T, NM_001166051.1:c.560C>T, NM_001166052.2:c.560C>T, NM_001166052.1:c.560C>T, NM_001166053.1:c.560C>T, NM_001166054.1:c.560C>T, XM_006714005.5:c.2213C>T, XM_006714005.4:c.2213C>T, XM_006714005.3:c.2213C>T, XM_006714005.2:c.2213C>T, XM_006714005.1:c.2213C>T, XM_006714010.5:c.2210C>T, XM_006714010.4:c.2210C>T, XM_006714010.3:c.2210C>T, XM_006714010.2:c.2210C>T, XM_006714010.1:c.2210C>T, XM_006714011.5:c.2150C>T, XM_006714011.4:c.2150C>T, XM_006714011.3:c.2150C>T, XM_006714011.2:c.2150C>T, XM_006714011.1:c.2150C>T, XM_006714012.5:c.2147C>T, XM_006714012.4:c.2147C>T, XM_006714012.3:c.2147C>T, XM_006714012.2:c.2147C>T, XM_006714012.1:c.2147C>T, XM_006714008.5:c.2213C>T, XM_006714008.4:c.2213C>T, XM_006714008.3:c.2213C>T, XM_006714008.2:c.2213C>T, XM_006714008.1:c.2213C>T, XM_011513687.4:c.2144C>T, XM_011513687.3:c.2144C>T, XM_011513687.2:c.2144C>T, XM_011513687.1:c.2144C>T, XM_017008146.3:c.2162C>T, XM_017008146.2:c.2162C>T, XM_017008146.1:c.2162C>T, XM_017008144.3:c.2210C>T, XM_017008144.2:c.2210C>T, XM_017008144.1:c.2210C>T, XM_017008145.3:c.2207C>T, XM_017008145.2:c.2207C>T, XM_017008145.1:c.2207C>T, XM_017008151.3:c.2150C>T, XM_017008151.2:c.2150C>T, XM_017008151.1:c.2150C>T, XM_017008152.3:c.2147C>T, XM_017008152.2:c.2147C>T, XM_017008152.1:c.2147C>T, XM_017008154.3:c.2144C>T, XM_017008154.2:c.2144C>T, XM_017008154.1:c.2144C>T, XM_017008148.3:c.2162C>T, XM_017008148.2:c.2162C>T, XM_017008148.1:c.2162C>T, XM_047450160.1:c.2213C>T, XM_047450167.1:c.2210C>T, XM_047450171.1:c.2207C>T, XM_047450177.1:c.2204C>T, XM_047450182.1:c.2147C>T, XM_047450185.1:c.2144C>T, XM_047450189.1:c.2141C>T, XM_047450162.1:c.2213C>T, XM_047450168.1:c.2210C>T, XM_047450174.1:c.2207C>T, XM_047450163.1:c.2213C>T, XM_047450178.1:c.2204C>T, XM_047450159.1:c.2213C>T, XM_047450170.1:c.2210C>T, XM_047450172.1:c.2207C>T, XM_047450179.1:c.2204C>T, XM_047450161.1:c.2213C>T, XM_047450166.1:c.2210C>T, XM_047450173.1:c.2207C>T, XM_047450180.1:c.2204C>T, XM_047450183.1:c.2147C>T, XM_047450184.1:c.2147C>T, XM_047450186.1:c.2144C>T, XM_047450190.1:c.2141C>T, XM_047450164.1:c.2213C>T, XM_047450169.1:c.2210C>T, XM_047450175.1:c.2207C>T, XM_047450181.1:c.2204C>T, XM_047450187.1:c.2144C>T, XM_047450191.1:c.2141C>T, XM_047450165.1:c.2213C>T, XM_047450176.1:c.2207C>T, XM_047450188.1:c.2144C>T, NP_775098.2:p.Thr713Ile, NP_004298.1:p.Thr736Ile, NP_001159522.1:p.Thr735Ile, NP_001317585.1:p.Thr714Ile, NP_001317587.1:p.Thr714Ile, NP_001159523.1:p.Thr187Ile, NP_001159524.1:p.Thr187Ile, NP_001159525.1:p.Thr187Ile, NP_001159526.1:p.Thr187Ile, XP_006714068.1:p.Thr738Ile, XP_006714073.1:p.Thr737Ile, XP_006714074.1:p.Thr717Ile, XP_006714075.1:p.Thr716Ile, XP_006714071.1:p.Thr738Ile, XP_011511989.1:p.Thr715Ile, XP_016863635.1:p.Thr721Ile, XP_016863633.1:p.Thr737Ile, XP_016863634.1:p.Thr736Ile, XP_016863640.1:p.Thr717Ile, XP_016863641.1:p.Thr716Ile, XP_016863643.1:p.Thr715Ile, XP_016863637.1:p.Thr721Ile, XP_047306116.1:p.Thr738Ile, XP_047306123.1:p.Thr737Ile, XP_047306127.1:p.Thr736Ile, XP_047306133.1:p.Thr735Ile, XP_047306138.1:p.Thr716Ile, XP_047306141.1:p.Thr715Ile, XP_047306145.1:p.Thr714Ile, XP_047306118.1:p.Thr738Ile, XP_047306124.1:p.Thr737Ile, XP_047306130.1:p.Thr736Ile, XP_047306119.1:p.Thr738Ile, XP_047306134.1:p.Thr735Ile, XP_047306115.1:p.Thr738Ile, XP_047306126.1:p.Thr737Ile, XP_047306128.1:p.Thr736Ile, XP_047306135.1:p.Thr735Ile, XP_047306117.1:p.Thr738Ile, XP_047306122.1:p.Thr737Ile, XP_047306129.1:p.Thr736Ile, XP_047306136.1:p.Thr735Ile, XP_047306139.1:p.Thr716Ile, XP_047306140.1:p.Thr716Ile, XP_047306142.1:p.Thr715Ile, XP_047306146.1:p.Thr714Ile, XP_047306120.1:p.Thr738Ile, XP_047306125.1:p.Thr737Ile, XP_047306131.1:p.Thr736Ile, XP_047306137.1:p.Thr735Ile, XP_047306143.1:p.Thr715Ile, XP_047306147.1:p.Thr714Ile, XP_047306121.1:p.Thr738Ile, XP_047306132.1:p.Thr736Ile, XP_047306144.1:p.Thr715Ile

                  9.

                  rs1435270793 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    4:40816150 (GRCh38)
                    4:40818167 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:40816149:C:A
                    Gene:
                    APBB2 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    A=0.000342/1 (KOREAN)
                    HGVS:
                    NC_000004.12:g.40816150C>A, NC_000004.11:g.40818167C>A, NG_013337.1:g.403469G>T, NM_173075.5:c.2153G>T, NM_173075.4:c.2153G>T, NM_004307.2:c.2222G>T, NM_004307.1:c.2222G>T, NM_001166050.2:c.2219G>T, NM_001166050.1:c.2219G>T, NM_001330656.2:c.2156G>T, NM_001330656.1:c.2156G>T, NM_001330658.2:c.2156G>T, NM_001330658.1:c.2156G>T, NM_001166051.2:c.575G>T, NM_001166051.1:c.575G>T, NM_001166052.2:c.575G>T, NM_001166052.1:c.575G>T, NM_001166053.1:c.575G>T, NM_001166054.1:c.575G>T, XM_006714005.5:c.2228G>T, XM_006714005.4:c.2228G>T, XM_006714005.3:c.2228G>T, XM_006714005.2:c.2228G>T, XM_006714005.1:c.2228G>T, XM_006714010.5:c.2225G>T, XM_006714010.4:c.2225G>T, XM_006714010.3:c.2225G>T, XM_006714010.2:c.2225G>T, XM_006714010.1:c.2225G>T, XM_006714011.5:c.2165G>T, XM_006714011.4:c.2165G>T, XM_006714011.3:c.2165G>T, XM_006714011.2:c.2165G>T, XM_006714011.1:c.2165G>T, XM_006714012.5:c.2162G>T, XM_006714012.4:c.2162G>T, XM_006714012.3:c.2162G>T, XM_006714012.2:c.2162G>T, XM_006714012.1:c.2162G>T, XM_006714008.5:c.2228G>T, XM_006714008.4:c.2228G>T, XM_006714008.3:c.2228G>T, XM_006714008.2:c.2228G>T, XM_006714008.1:c.2228G>T, XM_011513687.4:c.2159G>T, XM_011513687.3:c.2159G>T, XM_011513687.2:c.2159G>T, XM_011513687.1:c.2159G>T, XM_017008146.3:c.2177G>T, XM_017008146.2:c.2177G>T, XM_017008146.1:c.2177G>T, XM_017008144.3:c.2225G>T, XM_017008144.2:c.2225G>T, XM_017008144.1:c.2225G>T, XM_017008145.3:c.2222G>T, XM_017008145.2:c.2222G>T, XM_017008145.1:c.2222G>T, XM_017008151.3:c.2165G>T, XM_017008151.2:c.2165G>T, XM_017008151.1:c.2165G>T, XM_017008152.3:c.2162G>T, XM_017008152.2:c.2162G>T, XM_017008152.1:c.2162G>T, XM_017008154.3:c.2159G>T, XM_017008154.2:c.2159G>T, XM_017008154.1:c.2159G>T, XM_017008148.3:c.2177G>T, XM_017008148.2:c.2177G>T, XM_017008148.1:c.2177G>T, XM_047450160.1:c.2228G>T, XM_047450167.1:c.2225G>T, XM_047450171.1:c.2222G>T, XM_047450177.1:c.2219G>T, XM_047450182.1:c.2162G>T, XM_047450185.1:c.2159G>T, XM_047450189.1:c.2156G>T, XM_047450162.1:c.2228G>T, XM_047450168.1:c.2225G>T, XM_047450174.1:c.2222G>T, XM_047450163.1:c.2228G>T, XM_047450178.1:c.2219G>T, XM_047450159.1:c.2228G>T, XM_047450170.1:c.2225G>T, XM_047450172.1:c.2222G>T, XM_047450179.1:c.2219G>T, XM_047450161.1:c.2228G>T, XM_047450166.1:c.2225G>T, XM_047450173.1:c.2222G>T, XM_047450180.1:c.2219G>T, XM_047450183.1:c.2162G>T, XM_047450184.1:c.2162G>T, XM_047450186.1:c.2159G>T, XM_047450190.1:c.2156G>T, XM_047450164.1:c.2228G>T, XM_047450169.1:c.2225G>T, XM_047450175.1:c.2222G>T, XM_047450181.1:c.2219G>T, XM_047450187.1:c.2159G>T, XM_047450191.1:c.2156G>T, XM_047450165.1:c.2228G>T, XM_047450176.1:c.2222G>T, XM_047450188.1:c.2159G>T, NP_775098.2:p.Gly718Val, NP_004298.1:p.Gly741Val, NP_001159522.1:p.Gly740Val, NP_001317585.1:p.Gly719Val, NP_001317587.1:p.Gly719Val, NP_001159523.1:p.Gly192Val, NP_001159524.1:p.Gly192Val, NP_001159525.1:p.Gly192Val, NP_001159526.1:p.Gly192Val, XP_006714068.1:p.Gly743Val, XP_006714073.1:p.Gly742Val, XP_006714074.1:p.Gly722Val, XP_006714075.1:p.Gly721Val, XP_006714071.1:p.Gly743Val, XP_011511989.1:p.Gly720Val, XP_016863635.1:p.Gly726Val, XP_016863633.1:p.Gly742Val, XP_016863634.1:p.Gly741Val, XP_016863640.1:p.Gly722Val, XP_016863641.1:p.Gly721Val, XP_016863643.1:p.Gly720Val, XP_016863637.1:p.Gly726Val, XP_047306116.1:p.Gly743Val, XP_047306123.1:p.Gly742Val, XP_047306127.1:p.Gly741Val, XP_047306133.1:p.Gly740Val, XP_047306138.1:p.Gly721Val, XP_047306141.1:p.Gly720Val, XP_047306145.1:p.Gly719Val, XP_047306118.1:p.Gly743Val, XP_047306124.1:p.Gly742Val, XP_047306130.1:p.Gly741Val, XP_047306119.1:p.Gly743Val, XP_047306134.1:p.Gly740Val, XP_047306115.1:p.Gly743Val, XP_047306126.1:p.Gly742Val, XP_047306128.1:p.Gly741Val, XP_047306135.1:p.Gly740Val, XP_047306117.1:p.Gly743Val, XP_047306122.1:p.Gly742Val, XP_047306129.1:p.Gly741Val, XP_047306136.1:p.Gly740Val, XP_047306139.1:p.Gly721Val, XP_047306140.1:p.Gly721Val, XP_047306142.1:p.Gly720Val, XP_047306146.1:p.Gly719Val, XP_047306120.1:p.Gly743Val, XP_047306125.1:p.Gly742Val, XP_047306131.1:p.Gly741Val, XP_047306137.1:p.Gly740Val, XP_047306143.1:p.Gly720Val, XP_047306147.1:p.Gly719Val, XP_047306121.1:p.Gly743Val, XP_047306132.1:p.Gly741Val, XP_047306144.1:p.Gly720Val

                    10.

                    rs1433619180 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      4:40825890 (GRCh38)
                      4:40827907 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:40825889:C:G,NC_000004.12:40825889:C:T
                      Gene:
                      APBB2 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0.00005/1 (ALFA)
                      HGVS:
                      NC_000004.12:g.40825890C>G, NC_000004.12:g.40825890C>T, NC_000004.11:g.40827907C>G, NC_000004.11:g.40827907C>T, NG_013337.1:g.393729G>C, NG_013337.1:g.393729G>A, NM_173075.5:c.1744G>C, NM_173075.5:c.1744G>A, NM_173075.4:c.1744G>C, NM_173075.4:c.1744G>A, NM_004307.2:c.1813G>C, NM_004307.2:c.1813G>A, NM_004307.1:c.1813G>C, NM_004307.1:c.1813G>A, NM_001166050.2:c.1810G>C, NM_001166050.2:c.1810G>A, NM_001166050.1:c.1810G>C, NM_001166050.1:c.1810G>A, NM_001330656.2:c.1747G>C, NM_001330656.2:c.1747G>A, NM_001330656.1:c.1747G>C, NM_001330656.1:c.1747G>A, NM_001330658.2:c.1747G>C, NM_001330658.2:c.1747G>A, NM_001330658.1:c.1747G>C, NM_001330658.1:c.1747G>A, NM_001166051.2:c.166G>C, NM_001166051.2:c.166G>A, NM_001166051.1:c.166G>C, NM_001166051.1:c.166G>A, NM_001166052.2:c.166G>C, NM_001166052.2:c.166G>A, NM_001166052.1:c.166G>C, NM_001166052.1:c.166G>A, NM_001166053.1:c.166G>C, NM_001166053.1:c.166G>A, NM_001166054.1:c.166G>C, NM_001166054.1:c.166G>A, XM_006714005.5:c.1819G>C, XM_006714005.5:c.1819G>A, XM_006714005.4:c.1819G>C, XM_006714005.4:c.1819G>A, XM_006714005.3:c.1819G>C, XM_006714005.3:c.1819G>A, XM_006714005.2:c.1819G>C, XM_006714005.2:c.1819G>A, XM_006714005.1:c.1819G>C, XM_006714005.1:c.1819G>A, XM_006714010.5:c.1816G>C, XM_006714010.5:c.1816G>A, XM_006714010.4:c.1816G>C, XM_006714010.4:c.1816G>A, XM_006714010.3:c.1816G>C, XM_006714010.3:c.1816G>A, XM_006714010.2:c.1816G>C, XM_006714010.2:c.1816G>A, XM_006714010.1:c.1816G>C, XM_006714010.1:c.1816G>A, XM_006714011.5:c.1756G>C, XM_006714011.5:c.1756G>A, XM_006714011.4:c.1756G>C, XM_006714011.4:c.1756G>A, XM_006714011.3:c.1756G>C, XM_006714011.3:c.1756G>A, XM_006714011.2:c.1756G>C, XM_006714011.2:c.1756G>A, XM_006714011.1:c.1756G>C, XM_006714011.1:c.1756G>A, XM_006714012.5:c.1753G>C, XM_006714012.5:c.1753G>A, XM_006714012.4:c.1753G>C, XM_006714012.4:c.1753G>A, XM_006714012.3:c.1753G>C, XM_006714012.3:c.1753G>A, XM_006714012.2:c.1753G>C, XM_006714012.2:c.1753G>A, XM_006714012.1:c.1753G>C, XM_006714012.1:c.1753G>A, XM_006714008.5:c.1819G>C, XM_006714008.5:c.1819G>A, XM_006714008.4:c.1819G>C, XM_006714008.4:c.1819G>A, XM_006714008.3:c.1819G>C, XM_006714008.3:c.1819G>A, XM_006714008.2:c.1819G>C, XM_006714008.2:c.1819G>A, XM_006714008.1:c.1819G>C, XM_006714008.1:c.1819G>A, XM_011513687.4:c.1750G>C, XM_011513687.4:c.1750G>A, XM_011513687.3:c.1750G>C, XM_011513687.3:c.1750G>A, XM_011513687.2:c.1750G>C, XM_011513687.2:c.1750G>A, XM_011513687.1:c.1750G>C, XM_011513687.1:c.1750G>A, XM_017008146.3:c.1768G>C, XM_017008146.3:c.1768G>A, XM_017008146.2:c.1768G>C, XM_017008146.2:c.1768G>A, XM_017008146.1:c.1768G>C, XM_017008146.1:c.1768G>A, XM_017008144.3:c.1816G>C, XM_017008144.3:c.1816G>A, XM_017008144.2:c.1816G>C, XM_017008144.2:c.1816G>A, XM_017008144.1:c.1816G>C, XM_017008144.1:c.1816G>A, XM_017008145.3:c.1813G>C, XM_017008145.3:c.1813G>A, XM_017008145.2:c.1813G>C, XM_017008145.2:c.1813G>A, XM_017008145.1:c.1813G>C, XM_017008145.1:c.1813G>A, XM_017008151.3:c.1756G>C, XM_017008151.3:c.1756G>A, XM_017008151.2:c.1756G>C, XM_017008151.2:c.1756G>A, XM_017008151.1:c.1756G>C, XM_017008151.1:c.1756G>A, XM_017008152.3:c.1753G>C, XM_017008152.3:c.1753G>A, XM_017008152.2:c.1753G>C, XM_017008152.2:c.1753G>A, XM_017008152.1:c.1753G>C, XM_017008152.1:c.1753G>A, XM_017008154.3:c.1750G>C, XM_017008154.3:c.1750G>A, XM_017008154.2:c.1750G>C, XM_017008154.2:c.1750G>A, XM_017008154.1:c.1750G>C, XM_017008154.1:c.1750G>A, XM_017008148.3:c.1768G>C, XM_017008148.3:c.1768G>A, XM_017008148.2:c.1768G>C, XM_017008148.2:c.1768G>A, XM_017008148.1:c.1768G>C, XM_017008148.1:c.1768G>A, XM_047450160.1:c.1819G>C, XM_047450160.1:c.1819G>A, XM_047450167.1:c.1816G>C, XM_047450167.1:c.1816G>A, XM_047450171.1:c.1813G>C, XM_047450171.1:c.1813G>A, XM_047450177.1:c.1810G>C, XM_047450177.1:c.1810G>A, XM_047450182.1:c.1753G>C, XM_047450182.1:c.1753G>A, XM_047450185.1:c.1750G>C, XM_047450185.1:c.1750G>A, XM_047450189.1:c.1747G>C, XM_047450189.1:c.1747G>A, XM_047450162.1:c.1819G>C, XM_047450162.1:c.1819G>A, XM_047450168.1:c.1816G>C, XM_047450168.1:c.1816G>A, XM_047450174.1:c.1813G>C, XM_047450174.1:c.1813G>A, XM_047450163.1:c.1819G>C, XM_047450163.1:c.1819G>A, XM_047450178.1:c.1810G>C, XM_047450178.1:c.1810G>A, XM_047450159.1:c.1819G>C, XM_047450159.1:c.1819G>A, XM_047450170.1:c.1816G>C, XM_047450170.1:c.1816G>A, XM_047450172.1:c.1813G>C, XM_047450172.1:c.1813G>A, XM_047450179.1:c.1810G>C, XM_047450179.1:c.1810G>A, XM_047450161.1:c.1819G>C, XM_047450161.1:c.1819G>A, XM_047450166.1:c.1816G>C, XM_047450166.1:c.1816G>A, XM_047450173.1:c.1813G>C, XM_047450173.1:c.1813G>A, XM_047450180.1:c.1810G>C, XM_047450180.1:c.1810G>A, XM_047450183.1:c.1753G>C, XM_047450183.1:c.1753G>A, XM_047450184.1:c.1753G>C, XM_047450184.1:c.1753G>A, XM_047450186.1:c.1750G>C, XM_047450186.1:c.1750G>A, XM_047450190.1:c.1747G>C, XM_047450190.1:c.1747G>A, XM_047450164.1:c.1819G>C, XM_047450164.1:c.1819G>A, XM_047450169.1:c.1816G>C, XM_047450169.1:c.1816G>A, XM_047450175.1:c.1813G>C, XM_047450175.1:c.1813G>A, XM_047450181.1:c.1810G>C, XM_047450181.1:c.1810G>A, XM_047450187.1:c.1750G>C, XM_047450187.1:c.1750G>A, XM_047450191.1:c.1747G>C, XM_047450191.1:c.1747G>A, XM_047450165.1:c.1819G>C, XM_047450165.1:c.1819G>A, XM_047450176.1:c.1813G>C, XM_047450176.1:c.1813G>A, XM_047450188.1:c.1750G>C, XM_047450188.1:c.1750G>A, NP_775098.2:p.Val582Leu, NP_775098.2:p.Val582Ile, NP_004298.1:p.Val605Leu, NP_004298.1:p.Val605Ile, NP_001159522.1:p.Val604Leu, NP_001159522.1:p.Val604Ile, NP_001317585.1:p.Val583Leu, NP_001317585.1:p.Val583Ile, NP_001317587.1:p.Val583Leu, NP_001317587.1:p.Val583Ile, NP_001159523.1:p.Val56Leu, NP_001159523.1:p.Val56Ile, NP_001159524.1:p.Val56Leu, NP_001159524.1:p.Val56Ile, NP_001159525.1:p.Val56Leu, NP_001159525.1:p.Val56Ile, NP_001159526.1:p.Val56Leu, NP_001159526.1:p.Val56Ile, XP_006714068.1:p.Val607Leu, XP_006714068.1:p.Val607Ile, XP_006714073.1:p.Val606Leu, XP_006714073.1:p.Val606Ile, XP_006714074.1:p.Val586Leu, XP_006714074.1:p.Val586Ile, XP_006714075.1:p.Val585Leu, XP_006714075.1:p.Val585Ile, XP_006714071.1:p.Val607Leu, XP_006714071.1:p.Val607Ile, XP_011511989.1:p.Val584Leu, XP_011511989.1:p.Val584Ile, XP_016863635.1:p.Val590Leu, XP_016863635.1:p.Val590Ile, XP_016863633.1:p.Val606Leu, XP_016863633.1:p.Val606Ile, XP_016863634.1:p.Val605Leu, XP_016863634.1:p.Val605Ile, XP_016863640.1:p.Val586Leu, XP_016863640.1:p.Val586Ile, XP_016863641.1:p.Val585Leu, XP_016863641.1:p.Val585Ile, XP_016863643.1:p.Val584Leu, XP_016863643.1:p.Val584Ile, XP_016863637.1:p.Val590Leu, XP_016863637.1:p.Val590Ile, XP_047306116.1:p.Val607Leu, XP_047306116.1:p.Val607Ile, XP_047306123.1:p.Val606Leu, XP_047306123.1:p.Val606Ile, XP_047306127.1:p.Val605Leu, XP_047306127.1:p.Val605Ile, XP_047306133.1:p.Val604Leu, XP_047306133.1:p.Val604Ile, XP_047306138.1:p.Val585Leu, XP_047306138.1:p.Val585Ile, XP_047306141.1:p.Val584Leu, XP_047306141.1:p.Val584Ile, XP_047306145.1:p.Val583Leu, XP_047306145.1:p.Val583Ile, XP_047306118.1:p.Val607Leu, XP_047306118.1:p.Val607Ile, XP_047306124.1:p.Val606Leu, XP_047306124.1:p.Val606Ile, XP_047306130.1:p.Val605Leu, XP_047306130.1:p.Val605Ile, XP_047306119.1:p.Val607Leu, XP_047306119.1:p.Val607Ile, XP_047306134.1:p.Val604Leu, XP_047306134.1:p.Val604Ile, XP_047306115.1:p.Val607Leu, XP_047306115.1:p.Val607Ile, XP_047306126.1:p.Val606Leu, XP_047306126.1:p.Val606Ile, XP_047306128.1:p.Val605Leu, XP_047306128.1:p.Val605Ile, XP_047306135.1:p.Val604Leu, XP_047306135.1:p.Val604Ile, XP_047306117.1:p.Val607Leu, XP_047306117.1:p.Val607Ile, XP_047306122.1:p.Val606Leu, XP_047306122.1:p.Val606Ile, XP_047306129.1:p.Val605Leu, XP_047306129.1:p.Val605Ile, XP_047306136.1:p.Val604Leu, XP_047306136.1:p.Val604Ile, XP_047306139.1:p.Val585Leu, XP_047306139.1:p.Val585Ile, XP_047306140.1:p.Val585Leu, XP_047306140.1:p.Val585Ile, XP_047306142.1:p.Val584Leu, XP_047306142.1:p.Val584Ile, XP_047306146.1:p.Val583Leu, XP_047306146.1:p.Val583Ile, XP_047306120.1:p.Val607Leu, XP_047306120.1:p.Val607Ile, XP_047306125.1:p.Val606Leu, XP_047306125.1:p.Val606Ile, XP_047306131.1:p.Val605Leu, XP_047306131.1:p.Val605Ile, XP_047306137.1:p.Val604Leu, XP_047306137.1:p.Val604Ile, XP_047306143.1:p.Val584Leu, XP_047306143.1:p.Val584Ile, XP_047306147.1:p.Val583Leu, XP_047306147.1:p.Val583Ile, XP_047306121.1:p.Val607Leu, XP_047306121.1:p.Val607Ile, XP_047306132.1:p.Val605Leu, XP_047306132.1:p.Val605Ile, XP_047306144.1:p.Val584Leu, XP_047306144.1:p.Val584Ile

                      11.

                      rs1431055439 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        4:40827211 (GRCh38)
                        4:40829228 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:40827210:A:T
                        Gene:
                        APBB2 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        T=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        NC_000004.12:g.40827211A>T, NC_000004.11:g.40829228A>T, NG_013337.1:g.392408T>A, NM_173075.5:c.1587T>A, NM_173075.4:c.1587T>A, NM_004307.2:c.1653T>A, NM_004307.1:c.1653T>A, NM_001166050.2:c.1650T>A, NM_001166050.1:c.1650T>A, NM_001330656.2:c.1587T>A, NM_001330656.1:c.1587T>A, NM_001330658.2:c.1587T>A, NM_001330658.1:c.1587T>A, NM_001166051.2:c.6T>A, NM_001166051.1:c.6T>A, NM_001166052.2:c.6T>A, NM_001166052.1:c.6T>A, NM_001166053.1:c.6T>A, NM_001166054.1:c.6T>A, XM_006714005.5:c.1659T>A, XM_006714005.4:c.1659T>A, XM_006714005.3:c.1659T>A, XM_006714005.2:c.1659T>A, XM_006714005.1:c.1659T>A, XM_006714010.5:c.1656T>A, XM_006714010.4:c.1656T>A, XM_006714010.3:c.1656T>A, XM_006714010.2:c.1656T>A, XM_006714010.1:c.1656T>A, XM_006714011.5:c.1596T>A, XM_006714011.4:c.1596T>A, XM_006714011.3:c.1596T>A, XM_006714011.2:c.1596T>A, XM_006714011.1:c.1596T>A, XM_006714012.5:c.1593T>A, XM_006714012.4:c.1593T>A, XM_006714012.3:c.1593T>A, XM_006714012.2:c.1593T>A, XM_006714012.1:c.1593T>A, XM_006714008.5:c.1659T>A, XM_006714008.4:c.1659T>A, XM_006714008.3:c.1659T>A, XM_006714008.2:c.1659T>A, XM_006714008.1:c.1659T>A, XM_011513687.4:c.1590T>A, XM_011513687.3:c.1590T>A, XM_011513687.2:c.1590T>A, XM_011513687.1:c.1590T>A, XM_017008146.3:c.1608T>A, XM_017008146.2:c.1608T>A, XM_017008146.1:c.1608T>A, XM_017008144.3:c.1656T>A, XM_017008144.2:c.1656T>A, XM_017008144.1:c.1656T>A, XM_017008145.3:c.1653T>A, XM_017008145.2:c.1653T>A, XM_017008145.1:c.1653T>A, XM_017008151.3:c.1596T>A, XM_017008151.2:c.1596T>A, XM_017008151.1:c.1596T>A, XM_017008152.3:c.1593T>A, XM_017008152.2:c.1593T>A, XM_017008152.1:c.1593T>A, XM_017008154.3:c.1590T>A, XM_017008154.2:c.1590T>A, XM_017008154.1:c.1590T>A, XM_017008148.3:c.1608T>A, XM_017008148.2:c.1608T>A, XM_017008148.1:c.1608T>A, XM_047450160.1:c.1659T>A, XM_047450167.1:c.1656T>A, XM_047450171.1:c.1653T>A, XM_047450177.1:c.1650T>A, XM_047450182.1:c.1593T>A, XM_047450185.1:c.1590T>A, XM_047450189.1:c.1587T>A, XM_047450162.1:c.1659T>A, XM_047450168.1:c.1656T>A, XM_047450174.1:c.1653T>A, XM_047450163.1:c.1659T>A, XM_047450178.1:c.1650T>A, XM_047450159.1:c.1659T>A, XM_047450170.1:c.1656T>A, XM_047450172.1:c.1653T>A, XM_047450179.1:c.1650T>A, XM_047450161.1:c.1659T>A, XM_047450166.1:c.1656T>A, XM_047450173.1:c.1653T>A, XM_047450180.1:c.1650T>A, XM_047450183.1:c.1593T>A, XM_047450184.1:c.1593T>A, XM_047450186.1:c.1590T>A, XM_047450190.1:c.1587T>A, XM_047450164.1:c.1659T>A, XM_047450169.1:c.1656T>A, XM_047450175.1:c.1653T>A, XM_047450181.1:c.1650T>A, XM_047450187.1:c.1590T>A, XM_047450191.1:c.1587T>A, XM_047450165.1:c.1659T>A, XM_047450176.1:c.1653T>A, XM_047450188.1:c.1590T>A

                        12.

                        rs1428318395 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          4:40827151 (GRCh38)
                          4:40829168 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:40827150:G:T
                          Gene:
                          APBB2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000004.12:g.40827151G>T, NC_000004.11:g.40829168G>T, NG_013337.1:g.392468C>A, NM_173075.5:c.1647C>A, NM_173075.4:c.1647C>A, NM_004307.2:c.1713C>A, NM_004307.1:c.1713C>A, NM_001166050.2:c.1710C>A, NM_001166050.1:c.1710C>A, NM_001330656.2:c.1647C>A, NM_001330656.1:c.1647C>A, NM_001330658.2:c.1647C>A, NM_001330658.1:c.1647C>A, NM_001166051.2:c.66C>A, NM_001166051.1:c.66C>A, NM_001166052.2:c.66C>A, NM_001166052.1:c.66C>A, NM_001166053.1:c.66C>A, NM_001166054.1:c.66C>A, XM_006714005.5:c.1719C>A, XM_006714005.4:c.1719C>A, XM_006714005.3:c.1719C>A, XM_006714005.2:c.1719C>A, XM_006714005.1:c.1719C>A, XM_006714010.5:c.1716C>A, XM_006714010.4:c.1716C>A, XM_006714010.3:c.1716C>A, XM_006714010.2:c.1716C>A, XM_006714010.1:c.1716C>A, XM_006714011.5:c.1656C>A, XM_006714011.4:c.1656C>A, XM_006714011.3:c.1656C>A, XM_006714011.2:c.1656C>A, XM_006714011.1:c.1656C>A, XM_006714012.5:c.1653C>A, XM_006714012.4:c.1653C>A, XM_006714012.3:c.1653C>A, XM_006714012.2:c.1653C>A, XM_006714012.1:c.1653C>A, XM_006714008.5:c.1719C>A, XM_006714008.4:c.1719C>A, XM_006714008.3:c.1719C>A, XM_006714008.2:c.1719C>A, XM_006714008.1:c.1719C>A, XM_011513687.4:c.1650C>A, XM_011513687.3:c.1650C>A, XM_011513687.2:c.1650C>A, XM_011513687.1:c.1650C>A, XM_017008146.3:c.1668C>A, XM_017008146.2:c.1668C>A, XM_017008146.1:c.1668C>A, XM_017008144.3:c.1716C>A, XM_017008144.2:c.1716C>A, XM_017008144.1:c.1716C>A, XM_017008145.3:c.1713C>A, XM_017008145.2:c.1713C>A, XM_017008145.1:c.1713C>A, XM_017008151.3:c.1656C>A, XM_017008151.2:c.1656C>A, XM_017008151.1:c.1656C>A, XM_017008152.3:c.1653C>A, XM_017008152.2:c.1653C>A, XM_017008152.1:c.1653C>A, XM_017008154.3:c.1650C>A, XM_017008154.2:c.1650C>A, XM_017008154.1:c.1650C>A, XM_017008148.3:c.1668C>A, XM_017008148.2:c.1668C>A, XM_017008148.1:c.1668C>A, XM_047450160.1:c.1719C>A, XM_047450167.1:c.1716C>A, XM_047450171.1:c.1713C>A, XM_047450177.1:c.1710C>A, XM_047450182.1:c.1653C>A, XM_047450185.1:c.1650C>A, XM_047450189.1:c.1647C>A, XM_047450162.1:c.1719C>A, XM_047450168.1:c.1716C>A, XM_047450174.1:c.1713C>A, XM_047450163.1:c.1719C>A, XM_047450178.1:c.1710C>A, XM_047450159.1:c.1719C>A, XM_047450170.1:c.1716C>A, XM_047450172.1:c.1713C>A, XM_047450179.1:c.1710C>A, XM_047450161.1:c.1719C>A, XM_047450166.1:c.1716C>A, XM_047450173.1:c.1713C>A, XM_047450180.1:c.1710C>A, XM_047450183.1:c.1653C>A, XM_047450184.1:c.1653C>A, XM_047450186.1:c.1650C>A, XM_047450190.1:c.1647C>A, XM_047450164.1:c.1719C>A, XM_047450169.1:c.1716C>A, XM_047450175.1:c.1713C>A, XM_047450181.1:c.1710C>A, XM_047450187.1:c.1650C>A, XM_047450191.1:c.1647C>A, XM_047450165.1:c.1719C>A, XM_047450176.1:c.1713C>A, XM_047450188.1:c.1650C>A, NP_775098.2:p.Asn549Lys, NP_004298.1:p.Asn571Lys, NP_001159522.1:p.Asn570Lys, NP_001317585.1:p.Asn549Lys, NP_001317587.1:p.Asn549Lys, NP_001159523.1:p.Asn22Lys, NP_001159524.1:p.Asn22Lys, NP_001159525.1:p.Asn22Lys, NP_001159526.1:p.Asn22Lys, XP_006714068.1:p.Asn573Lys, XP_006714073.1:p.Asn572Lys, XP_006714074.1:p.Asn552Lys, XP_006714075.1:p.Asn551Lys, XP_006714071.1:p.Asn573Lys, XP_011511989.1:p.Asn550Lys, XP_016863635.1:p.Asn556Lys, XP_016863633.1:p.Asn572Lys, XP_016863634.1:p.Asn571Lys, XP_016863640.1:p.Asn552Lys, XP_016863641.1:p.Asn551Lys, XP_016863643.1:p.Asn550Lys, XP_016863637.1:p.Asn556Lys, XP_047306116.1:p.Asn573Lys, XP_047306123.1:p.Asn572Lys, XP_047306127.1:p.Asn571Lys, XP_047306133.1:p.Asn570Lys, XP_047306138.1:p.Asn551Lys, XP_047306141.1:p.Asn550Lys, XP_047306145.1:p.Asn549Lys, XP_047306118.1:p.Asn573Lys, XP_047306124.1:p.Asn572Lys, XP_047306130.1:p.Asn571Lys, XP_047306119.1:p.Asn573Lys, XP_047306134.1:p.Asn570Lys, XP_047306115.1:p.Asn573Lys, XP_047306126.1:p.Asn572Lys, XP_047306128.1:p.Asn571Lys, XP_047306135.1:p.Asn570Lys, XP_047306117.1:p.Asn573Lys, XP_047306122.1:p.Asn572Lys, XP_047306129.1:p.Asn571Lys, XP_047306136.1:p.Asn570Lys, XP_047306139.1:p.Asn551Lys, XP_047306140.1:p.Asn551Lys, XP_047306142.1:p.Asn550Lys, XP_047306146.1:p.Asn549Lys, XP_047306120.1:p.Asn573Lys, XP_047306125.1:p.Asn572Lys, XP_047306131.1:p.Asn571Lys, XP_047306137.1:p.Asn570Lys, XP_047306143.1:p.Asn550Lys, XP_047306147.1:p.Asn549Lys, XP_047306121.1:p.Asn573Lys, XP_047306132.1:p.Asn571Lys, XP_047306144.1:p.Asn550Lys

                          13.

                          rs1413637426 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            4:40825966 (GRCh38)
                            4:40827983 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:40825965:A:G
                            Gene:
                            APBB2 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0.000111/1 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000004.12:g.40825966A>G, NC_000004.11:g.40827983A>G, NG_013337.1:g.393653T>C, NM_173075.5:c.1668T>C, NM_173075.4:c.1668T>C, NM_004307.2:c.1737T>C, NM_004307.1:c.1737T>C, NM_001166050.2:c.1734T>C, NM_001166050.1:c.1734T>C, NM_001330656.2:c.1671T>C, NM_001330656.1:c.1671T>C, NM_001330658.2:c.1671T>C, NM_001330658.1:c.1671T>C, NM_001166051.2:c.90T>C, NM_001166051.1:c.90T>C, NM_001166052.2:c.90T>C, NM_001166052.1:c.90T>C, NM_001166053.1:c.90T>C, NM_001166054.1:c.90T>C, XM_006714005.5:c.1743T>C, XM_006714005.4:c.1743T>C, XM_006714005.3:c.1743T>C, XM_006714005.2:c.1743T>C, XM_006714005.1:c.1743T>C, XM_006714010.5:c.1740T>C, XM_006714010.4:c.1740T>C, XM_006714010.3:c.1740T>C, XM_006714010.2:c.1740T>C, XM_006714010.1:c.1740T>C, XM_006714011.5:c.1680T>C, XM_006714011.4:c.1680T>C, XM_006714011.3:c.1680T>C, XM_006714011.2:c.1680T>C, XM_006714011.1:c.1680T>C, XM_006714012.5:c.1677T>C, XM_006714012.4:c.1677T>C, XM_006714012.3:c.1677T>C, XM_006714012.2:c.1677T>C, XM_006714012.1:c.1677T>C, XM_006714008.5:c.1743T>C, XM_006714008.4:c.1743T>C, XM_006714008.3:c.1743T>C, XM_006714008.2:c.1743T>C, XM_006714008.1:c.1743T>C, XM_011513687.4:c.1674T>C, XM_011513687.3:c.1674T>C, XM_011513687.2:c.1674T>C, XM_011513687.1:c.1674T>C, XM_017008146.3:c.1692T>C, XM_017008146.2:c.1692T>C, XM_017008146.1:c.1692T>C, XM_017008144.3:c.1740T>C, XM_017008144.2:c.1740T>C, XM_017008144.1:c.1740T>C, XM_017008145.3:c.1737T>C, XM_017008145.2:c.1737T>C, XM_017008145.1:c.1737T>C, XM_017008151.3:c.1680T>C, XM_017008151.2:c.1680T>C, XM_017008151.1:c.1680T>C, XM_017008152.3:c.1677T>C, XM_017008152.2:c.1677T>C, XM_017008152.1:c.1677T>C, XM_017008154.3:c.1674T>C, XM_017008154.2:c.1674T>C, XM_017008154.1:c.1674T>C, XM_017008148.3:c.1692T>C, XM_017008148.2:c.1692T>C, XM_017008148.1:c.1692T>C, XM_047450160.1:c.1743T>C, XM_047450167.1:c.1740T>C, XM_047450171.1:c.1737T>C, XM_047450177.1:c.1734T>C, XM_047450182.1:c.1677T>C, XM_047450185.1:c.1674T>C, XM_047450189.1:c.1671T>C, XM_047450162.1:c.1743T>C, XM_047450168.1:c.1740T>C, XM_047450174.1:c.1737T>C, XM_047450163.1:c.1743T>C, XM_047450178.1:c.1734T>C, XM_047450159.1:c.1743T>C, XM_047450170.1:c.1740T>C, XM_047450172.1:c.1737T>C, XM_047450179.1:c.1734T>C, XM_047450161.1:c.1743T>C, XM_047450166.1:c.1740T>C, XM_047450173.1:c.1737T>C, XM_047450180.1:c.1734T>C, XM_047450183.1:c.1677T>C, XM_047450184.1:c.1677T>C, XM_047450186.1:c.1674T>C, XM_047450190.1:c.1671T>C, XM_047450164.1:c.1743T>C, XM_047450169.1:c.1740T>C, XM_047450175.1:c.1737T>C, XM_047450181.1:c.1734T>C, XM_047450187.1:c.1674T>C, XM_047450191.1:c.1671T>C, XM_047450165.1:c.1743T>C, XM_047450176.1:c.1737T>C, XM_047450188.1:c.1674T>C

                            14.

                            rs1406245464 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              4:40823745 (GRCh38)
                              4:40825762 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:40823744:T:C
                              Gene:
                              APBB2 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000004.12:g.40823745T>C, NC_000004.11:g.40825762T>C, NG_013337.1:g.395874A>G, NM_173075.5:c.1762A>G, NM_173075.4:c.1762A>G, NM_004307.2:c.1831A>G, NM_004307.1:c.1831A>G, NM_001166050.2:c.1828A>G, NM_001166050.1:c.1828A>G, NM_001330656.2:c.1765A>G, NM_001330656.1:c.1765A>G, NM_001330658.2:c.1765A>G, NM_001330658.1:c.1765A>G, NM_001166051.2:c.184A>G, NM_001166051.1:c.184A>G, NM_001166052.2:c.184A>G, NM_001166052.1:c.184A>G, NM_001166053.1:c.184A>G, NM_001166054.1:c.184A>G, XM_006714005.5:c.1837A>G, XM_006714005.4:c.1837A>G, XM_006714005.3:c.1837A>G, XM_006714005.2:c.1837A>G, XM_006714005.1:c.1837A>G, XM_006714010.5:c.1834A>G, XM_006714010.4:c.1834A>G, XM_006714010.3:c.1834A>G, XM_006714010.2:c.1834A>G, XM_006714010.1:c.1834A>G, XM_006714011.5:c.1774A>G, XM_006714011.4:c.1774A>G, XM_006714011.3:c.1774A>G, XM_006714011.2:c.1774A>G, XM_006714011.1:c.1774A>G, XM_006714012.5:c.1771A>G, XM_006714012.4:c.1771A>G, XM_006714012.3:c.1771A>G, XM_006714012.2:c.1771A>G, XM_006714012.1:c.1771A>G, XM_006714008.5:c.1837A>G, XM_006714008.4:c.1837A>G, XM_006714008.3:c.1837A>G, XM_006714008.2:c.1837A>G, XM_006714008.1:c.1837A>G, XM_011513687.4:c.1768A>G, XM_011513687.3:c.1768A>G, XM_011513687.2:c.1768A>G, XM_011513687.1:c.1768A>G, XM_017008146.3:c.1786A>G, XM_017008146.2:c.1786A>G, XM_017008146.1:c.1786A>G, XM_017008144.3:c.1834A>G, XM_017008144.2:c.1834A>G, XM_017008144.1:c.1834A>G, XM_017008145.3:c.1831A>G, XM_017008145.2:c.1831A>G, XM_017008145.1:c.1831A>G, XM_017008151.3:c.1774A>G, XM_017008151.2:c.1774A>G, XM_017008151.1:c.1774A>G, XM_017008152.3:c.1771A>G, XM_017008152.2:c.1771A>G, XM_017008152.1:c.1771A>G, XM_017008154.3:c.1768A>G, XM_017008154.2:c.1768A>G, XM_017008154.1:c.1768A>G, XM_017008148.3:c.1786A>G, XM_017008148.2:c.1786A>G, XM_017008148.1:c.1786A>G, XM_047450160.1:c.1837A>G, XM_047450167.1:c.1834A>G, XM_047450171.1:c.1831A>G, XM_047450177.1:c.1828A>G, XM_047450182.1:c.1771A>G, XM_047450185.1:c.1768A>G, XM_047450189.1:c.1765A>G, XM_047450162.1:c.1837A>G, XM_047450168.1:c.1834A>G, XM_047450174.1:c.1831A>G, XM_047450163.1:c.1837A>G, XM_047450178.1:c.1828A>G, XM_047450159.1:c.1837A>G, XM_047450170.1:c.1834A>G, XM_047450172.1:c.1831A>G, XM_047450179.1:c.1828A>G, XM_047450161.1:c.1837A>G, XM_047450166.1:c.1834A>G, XM_047450173.1:c.1831A>G, XM_047450180.1:c.1828A>G, XM_047450183.1:c.1771A>G, XM_047450184.1:c.1771A>G, XM_047450186.1:c.1768A>G, XM_047450190.1:c.1765A>G, XM_047450164.1:c.1837A>G, XM_047450169.1:c.1834A>G, XM_047450175.1:c.1831A>G, XM_047450181.1:c.1828A>G, XM_047450187.1:c.1768A>G, XM_047450191.1:c.1765A>G, XM_047450165.1:c.1837A>G, XM_047450176.1:c.1831A>G, XM_047450188.1:c.1768A>G, NP_775098.2:p.Asn588Asp, NP_004298.1:p.Asn611Asp, NP_001159522.1:p.Asn610Asp, NP_001317585.1:p.Asn589Asp, NP_001317587.1:p.Asn589Asp, NP_001159523.1:p.Asn62Asp, NP_001159524.1:p.Asn62Asp, NP_001159525.1:p.Asn62Asp, NP_001159526.1:p.Asn62Asp, XP_006714068.1:p.Asn613Asp, XP_006714073.1:p.Asn612Asp, XP_006714074.1:p.Asn592Asp, XP_006714075.1:p.Asn591Asp, XP_006714071.1:p.Asn613Asp, XP_011511989.1:p.Asn590Asp, XP_016863635.1:p.Asn596Asp, XP_016863633.1:p.Asn612Asp, XP_016863634.1:p.Asn611Asp, XP_016863640.1:p.Asn592Asp, XP_016863641.1:p.Asn591Asp, XP_016863643.1:p.Asn590Asp, XP_016863637.1:p.Asn596Asp, XP_047306116.1:p.Asn613Asp, XP_047306123.1:p.Asn612Asp, XP_047306127.1:p.Asn611Asp, XP_047306133.1:p.Asn610Asp, XP_047306138.1:p.Asn591Asp, XP_047306141.1:p.Asn590Asp, XP_047306145.1:p.Asn589Asp, XP_047306118.1:p.Asn613Asp, XP_047306124.1:p.Asn612Asp, XP_047306130.1:p.Asn611Asp, XP_047306119.1:p.Asn613Asp, XP_047306134.1:p.Asn610Asp, XP_047306115.1:p.Asn613Asp, XP_047306126.1:p.Asn612Asp, XP_047306128.1:p.Asn611Asp, XP_047306135.1:p.Asn610Asp, XP_047306117.1:p.Asn613Asp, XP_047306122.1:p.Asn612Asp, XP_047306129.1:p.Asn611Asp, XP_047306136.1:p.Asn610Asp, XP_047306139.1:p.Asn591Asp, XP_047306140.1:p.Asn591Asp, XP_047306142.1:p.Asn590Asp, XP_047306146.1:p.Asn589Asp, XP_047306120.1:p.Asn613Asp, XP_047306125.1:p.Asn612Asp, XP_047306131.1:p.Asn611Asp, XP_047306137.1:p.Asn610Asp, XP_047306143.1:p.Asn590Asp, XP_047306147.1:p.Asn589Asp, XP_047306121.1:p.Asn613Asp, XP_047306132.1:p.Asn611Asp, XP_047306144.1:p.Asn590Asp

                              15.

                              rs1403213383 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                4:40816135 (GRCh38)
                                4:40818152 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:40816134:A:G
                                Gene:
                                APBB2 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000071/1 (ALFA)
                                G=0.000014/2 (GnomAD)
                                G=0.000023/6 (TOPMED)
                                HGVS:
                                NC_000004.12:g.40816135A>G, NC_000004.11:g.40818152A>G, NG_013337.1:g.403484T>C, NM_173075.5:c.2168T>C, NM_173075.4:c.2168T>C, NM_004307.2:c.2237T>C, NM_004307.1:c.2237T>C, NM_001166050.2:c.2234T>C, NM_001166050.1:c.2234T>C, NM_001330656.2:c.2171T>C, NM_001330656.1:c.2171T>C, NM_001330658.2:c.2171T>C, NM_001330658.1:c.2171T>C, NM_001166051.2:c.590T>C, NM_001166051.1:c.590T>C, NM_001166052.2:c.590T>C, NM_001166052.1:c.590T>C, NM_001166053.1:c.590T>C, NM_001166054.1:c.590T>C, XM_006714005.5:c.2243T>C, XM_006714005.4:c.2243T>C, XM_006714005.3:c.2243T>C, XM_006714005.2:c.2243T>C, XM_006714005.1:c.2243T>C, XM_006714010.5:c.2240T>C, XM_006714010.4:c.2240T>C, XM_006714010.3:c.2240T>C, XM_006714010.2:c.2240T>C, XM_006714010.1:c.2240T>C, XM_006714011.5:c.2180T>C, XM_006714011.4:c.2180T>C, XM_006714011.3:c.2180T>C, XM_006714011.2:c.2180T>C, XM_006714011.1:c.2180T>C, XM_006714012.5:c.2177T>C, XM_006714012.4:c.2177T>C, XM_006714012.3:c.2177T>C, XM_006714012.2:c.2177T>C, XM_006714012.1:c.2177T>C, XM_006714008.5:c.2243T>C, XM_006714008.4:c.2243T>C, XM_006714008.3:c.2243T>C, XM_006714008.2:c.2243T>C, XM_006714008.1:c.2243T>C, XM_011513687.4:c.2174T>C, XM_011513687.3:c.2174T>C, XM_011513687.2:c.2174T>C, XM_011513687.1:c.2174T>C, XM_017008146.3:c.2192T>C, XM_017008146.2:c.2192T>C, XM_017008146.1:c.2192T>C, XM_017008144.3:c.2240T>C, XM_017008144.2:c.2240T>C, XM_017008144.1:c.2240T>C, XM_017008145.3:c.2237T>C, XM_017008145.2:c.2237T>C, XM_017008145.1:c.2237T>C, XM_017008151.3:c.2180T>C, XM_017008151.2:c.2180T>C, XM_017008151.1:c.2180T>C, XM_017008152.3:c.2177T>C, XM_017008152.2:c.2177T>C, XM_017008152.1:c.2177T>C, XM_017008154.3:c.2174T>C, XM_017008154.2:c.2174T>C, XM_017008154.1:c.2174T>C, XM_017008148.3:c.2192T>C, XM_017008148.2:c.2192T>C, XM_017008148.1:c.2192T>C, XM_047450160.1:c.2243T>C, XM_047450167.1:c.2240T>C, XM_047450171.1:c.2237T>C, XM_047450177.1:c.2234T>C, XM_047450182.1:c.2177T>C, XM_047450185.1:c.2174T>C, XM_047450189.1:c.2171T>C, XM_047450162.1:c.2243T>C, XM_047450168.1:c.2240T>C, XM_047450174.1:c.2237T>C, XM_047450163.1:c.2243T>C, XM_047450178.1:c.2234T>C, XM_047450159.1:c.2243T>C, XM_047450170.1:c.2240T>C, XM_047450172.1:c.2237T>C, XM_047450179.1:c.2234T>C, XM_047450161.1:c.2243T>C, XM_047450166.1:c.2240T>C, XM_047450173.1:c.2237T>C, XM_047450180.1:c.2234T>C, XM_047450183.1:c.2177T>C, XM_047450184.1:c.2177T>C, XM_047450186.1:c.2174T>C, XM_047450190.1:c.2171T>C, XM_047450164.1:c.2243T>C, XM_047450169.1:c.2240T>C, XM_047450175.1:c.2237T>C, XM_047450181.1:c.2234T>C, XM_047450187.1:c.2174T>C, XM_047450191.1:c.2171T>C, XM_047450165.1:c.2243T>C, XM_047450176.1:c.2237T>C, XM_047450188.1:c.2174T>C, NP_775098.2:p.Ile723Thr, NP_004298.1:p.Ile746Thr, NP_001159522.1:p.Ile745Thr, NP_001317585.1:p.Ile724Thr, NP_001317587.1:p.Ile724Thr, NP_001159523.1:p.Ile197Thr, NP_001159524.1:p.Ile197Thr, NP_001159525.1:p.Ile197Thr, NP_001159526.1:p.Ile197Thr, XP_006714068.1:p.Ile748Thr, XP_006714073.1:p.Ile747Thr, XP_006714074.1:p.Ile727Thr, XP_006714075.1:p.Ile726Thr, XP_006714071.1:p.Ile748Thr, XP_011511989.1:p.Ile725Thr, XP_016863635.1:p.Ile731Thr, XP_016863633.1:p.Ile747Thr, XP_016863634.1:p.Ile746Thr, XP_016863640.1:p.Ile727Thr, XP_016863641.1:p.Ile726Thr, XP_016863643.1:p.Ile725Thr, XP_016863637.1:p.Ile731Thr, XP_047306116.1:p.Ile748Thr, XP_047306123.1:p.Ile747Thr, XP_047306127.1:p.Ile746Thr, XP_047306133.1:p.Ile745Thr, XP_047306138.1:p.Ile726Thr, XP_047306141.1:p.Ile725Thr, XP_047306145.1:p.Ile724Thr, XP_047306118.1:p.Ile748Thr, XP_047306124.1:p.Ile747Thr, XP_047306130.1:p.Ile746Thr, XP_047306119.1:p.Ile748Thr, XP_047306134.1:p.Ile745Thr, XP_047306115.1:p.Ile748Thr, XP_047306126.1:p.Ile747Thr, XP_047306128.1:p.Ile746Thr, XP_047306135.1:p.Ile745Thr, XP_047306117.1:p.Ile748Thr, XP_047306122.1:p.Ile747Thr, XP_047306129.1:p.Ile746Thr, XP_047306136.1:p.Ile745Thr, XP_047306139.1:p.Ile726Thr, XP_047306140.1:p.Ile726Thr, XP_047306142.1:p.Ile725Thr, XP_047306146.1:p.Ile724Thr, XP_047306120.1:p.Ile748Thr, XP_047306125.1:p.Ile747Thr, XP_047306131.1:p.Ile746Thr, XP_047306137.1:p.Ile745Thr, XP_047306143.1:p.Ile725Thr, XP_047306147.1:p.Ile724Thr, XP_047306121.1:p.Ile748Thr, XP_047306132.1:p.Ile746Thr, XP_047306144.1:p.Ile725Thr

                                16.

                                rs1399826576 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  4:40816121 (GRCh38)
                                  4:40818138 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:40816120:G:A,NC_000004.12:40816120:G:C
                                  Gene:
                                  APBB2 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,stop_gained
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  A=0.000177/3 (TOMMO)
                                  HGVS:
                                  NC_000004.12:g.40816121G>A, NC_000004.12:g.40816121G>C, NC_000004.11:g.40818138G>A, NC_000004.11:g.40818138G>C, NG_013337.1:g.403498C>T, NG_013337.1:g.403498C>G, NM_173075.5:c.2182C>T, NM_173075.5:c.2182C>G, NM_173075.4:c.2182C>T, NM_173075.4:c.2182C>G, NM_004307.2:c.2251C>T, NM_004307.2:c.2251C>G, NM_004307.1:c.2251C>T, NM_004307.1:c.2251C>G, NM_001166050.2:c.2248C>T, NM_001166050.2:c.2248C>G, NM_001166050.1:c.2248C>T, NM_001166050.1:c.2248C>G, NM_001330656.2:c.2185C>T, NM_001330656.2:c.2185C>G, NM_001330656.1:c.2185C>T, NM_001330656.1:c.2185C>G, NM_001330658.2:c.2185C>T, NM_001330658.2:c.2185C>G, NM_001330658.1:c.2185C>T, NM_001330658.1:c.2185C>G, NM_001166051.2:c.604C>T, NM_001166051.2:c.604C>G, NM_001166051.1:c.604C>T, NM_001166051.1:c.604C>G, NM_001166052.2:c.604C>T, NM_001166052.2:c.604C>G, NM_001166052.1:c.604C>T, NM_001166052.1:c.604C>G, NM_001166053.1:c.604C>T, NM_001166053.1:c.604C>G, NM_001166054.1:c.604C>T, NM_001166054.1:c.604C>G, XM_006714005.5:c.2257C>T, XM_006714005.5:c.2257C>G, XM_006714005.4:c.2257C>T, XM_006714005.4:c.2257C>G, XM_006714005.3:c.2257C>T, XM_006714005.3:c.2257C>G, XM_006714005.2:c.2257C>T, XM_006714005.2:c.2257C>G, XM_006714005.1:c.2257C>T, XM_006714005.1:c.2257C>G, XM_006714010.5:c.2254C>T, XM_006714010.5:c.2254C>G, XM_006714010.4:c.2254C>T, XM_006714010.4:c.2254C>G, XM_006714010.3:c.2254C>T, XM_006714010.3:c.2254C>G, XM_006714010.2:c.2254C>T, XM_006714010.2:c.2254C>G, XM_006714010.1:c.2254C>T, XM_006714010.1:c.2254C>G, XM_006714011.5:c.2194C>T, XM_006714011.5:c.2194C>G, XM_006714011.4:c.2194C>T, XM_006714011.4:c.2194C>G, XM_006714011.3:c.2194C>T, XM_006714011.3:c.2194C>G, XM_006714011.2:c.2194C>T, XM_006714011.2:c.2194C>G, XM_006714011.1:c.2194C>T, XM_006714011.1:c.2194C>G, XM_006714012.5:c.2191C>T, XM_006714012.5:c.2191C>G, XM_006714012.4:c.2191C>T, XM_006714012.4:c.2191C>G, XM_006714012.3:c.2191C>T, XM_006714012.3:c.2191C>G, XM_006714012.2:c.2191C>T, XM_006714012.2:c.2191C>G, XM_006714012.1:c.2191C>T, XM_006714012.1:c.2191C>G, XM_006714008.5:c.2257C>T, XM_006714008.5:c.2257C>G, XM_006714008.4:c.2257C>T, XM_006714008.4:c.2257C>G, XM_006714008.3:c.2257C>T, XM_006714008.3:c.2257C>G, XM_006714008.2:c.2257C>T, XM_006714008.2:c.2257C>G, XM_006714008.1:c.2257C>T, XM_006714008.1:c.2257C>G, XM_011513687.4:c.2188C>T, XM_011513687.4:c.2188C>G, XM_011513687.3:c.2188C>T, XM_011513687.3:c.2188C>G, XM_011513687.2:c.2188C>T, XM_011513687.2:c.2188C>G, XM_011513687.1:c.2188C>T, XM_011513687.1:c.2188C>G, XM_017008146.3:c.2206C>T, XM_017008146.3:c.2206C>G, XM_017008146.2:c.2206C>T, XM_017008146.2:c.2206C>G, XM_017008146.1:c.2206C>T, XM_017008146.1:c.2206C>G, XM_017008144.3:c.2254C>T, XM_017008144.3:c.2254C>G, XM_017008144.2:c.2254C>T, XM_017008144.2:c.2254C>G, XM_017008144.1:c.2254C>T, XM_017008144.1:c.2254C>G, XM_017008145.3:c.2251C>T, XM_017008145.3:c.2251C>G, XM_017008145.2:c.2251C>T, XM_017008145.2:c.2251C>G, XM_017008145.1:c.2251C>T, XM_017008145.1:c.2251C>G, XM_017008151.3:c.2194C>T, XM_017008151.3:c.2194C>G, XM_017008151.2:c.2194C>T, XM_017008151.2:c.2194C>G, XM_017008151.1:c.2194C>T, XM_017008151.1:c.2194C>G, XM_017008152.3:c.2191C>T, XM_017008152.3:c.2191C>G, XM_017008152.2:c.2191C>T, XM_017008152.2:c.2191C>G, XM_017008152.1:c.2191C>T, XM_017008152.1:c.2191C>G, XM_017008154.3:c.2188C>T, XM_017008154.3:c.2188C>G, XM_017008154.2:c.2188C>T, XM_017008154.2:c.2188C>G, XM_017008154.1:c.2188C>T, XM_017008154.1:c.2188C>G, XM_017008148.3:c.2206C>T, XM_017008148.3:c.2206C>G, XM_017008148.2:c.2206C>T, XM_017008148.2:c.2206C>G, XM_017008148.1:c.2206C>T, XM_017008148.1:c.2206C>G, XM_047450160.1:c.2257C>T, XM_047450160.1:c.2257C>G, XM_047450167.1:c.2254C>T, XM_047450167.1:c.2254C>G, XM_047450171.1:c.2251C>T, XM_047450171.1:c.2251C>G, XM_047450177.1:c.2248C>T, XM_047450177.1:c.2248C>G, XM_047450182.1:c.2191C>T, XM_047450182.1:c.2191C>G, XM_047450185.1:c.2188C>T, XM_047450185.1:c.2188C>G, XM_047450189.1:c.2185C>T, XM_047450189.1:c.2185C>G, XM_047450162.1:c.2257C>T, XM_047450162.1:c.2257C>G, XM_047450168.1:c.2254C>T, XM_047450168.1:c.2254C>G, XM_047450174.1:c.2251C>T, XM_047450174.1:c.2251C>G, XM_047450163.1:c.2257C>T, XM_047450163.1:c.2257C>G, XM_047450178.1:c.2248C>T, XM_047450178.1:c.2248C>G, XM_047450159.1:c.2257C>T, XM_047450159.1:c.2257C>G, XM_047450170.1:c.2254C>T, XM_047450170.1:c.2254C>G, XM_047450172.1:c.2251C>T, XM_047450172.1:c.2251C>G, XM_047450179.1:c.2248C>T, XM_047450179.1:c.2248C>G, XM_047450161.1:c.2257C>T, XM_047450161.1:c.2257C>G, XM_047450166.1:c.2254C>T, XM_047450166.1:c.2254C>G, XM_047450173.1:c.2251C>T, XM_047450173.1:c.2251C>G, XM_047450180.1:c.2248C>T, XM_047450180.1:c.2248C>G, XM_047450183.1:c.2191C>T, XM_047450183.1:c.2191C>G, XM_047450184.1:c.2191C>T, XM_047450184.1:c.2191C>G, XM_047450186.1:c.2188C>T, XM_047450186.1:c.2188C>G, XM_047450190.1:c.2185C>T, XM_047450190.1:c.2185C>G, XM_047450164.1:c.2257C>T, XM_047450164.1:c.2257C>G, XM_047450169.1:c.2254C>T, XM_047450169.1:c.2254C>G, XM_047450175.1:c.2251C>T, XM_047450175.1:c.2251C>G, XM_047450181.1:c.2248C>T, XM_047450181.1:c.2248C>G, XM_047450187.1:c.2188C>T, XM_047450187.1:c.2188C>G, XM_047450191.1:c.2185C>T, XM_047450191.1:c.2185C>G, XM_047450165.1:c.2257C>T, XM_047450165.1:c.2257C>G, XM_047450176.1:c.2251C>T, XM_047450176.1:c.2251C>G, XM_047450188.1:c.2188C>T, XM_047450188.1:c.2188C>G, NP_775098.2:p.Gln728Ter, NP_775098.2:p.Gln728Glu, NP_004298.1:p.Gln751Ter, NP_004298.1:p.Gln751Glu, NP_001159522.1:p.Gln750Ter, NP_001159522.1:p.Gln750Glu, NP_001317585.1:p.Gln729Ter, NP_001317585.1:p.Gln729Glu, NP_001317587.1:p.Gln729Ter, NP_001317587.1:p.Gln729Glu, NP_001159523.1:p.Gln202Ter, NP_001159523.1:p.Gln202Glu, NP_001159524.1:p.Gln202Ter, NP_001159524.1:p.Gln202Glu, NP_001159525.1:p.Gln202Ter, NP_001159525.1:p.Gln202Glu, NP_001159526.1:p.Gln202Ter, NP_001159526.1:p.Gln202Glu, XP_006714068.1:p.Gln753Ter, XP_006714068.1:p.Gln753Glu, XP_006714073.1:p.Gln752Ter, XP_006714073.1:p.Gln752Glu, XP_006714074.1:p.Gln732Ter, XP_006714074.1:p.Gln732Glu, XP_006714075.1:p.Gln731Ter, XP_006714075.1:p.Gln731Glu, XP_006714071.1:p.Gln753Ter, XP_006714071.1:p.Gln753Glu, XP_011511989.1:p.Gln730Ter, XP_011511989.1:p.Gln730Glu, XP_016863635.1:p.Gln736Ter, XP_016863635.1:p.Gln736Glu, XP_016863633.1:p.Gln752Ter, XP_016863633.1:p.Gln752Glu, XP_016863634.1:p.Gln751Ter, XP_016863634.1:p.Gln751Glu, XP_016863640.1:p.Gln732Ter, XP_016863640.1:p.Gln732Glu, XP_016863641.1:p.Gln731Ter, XP_016863641.1:p.Gln731Glu, XP_016863643.1:p.Gln730Ter, XP_016863643.1:p.Gln730Glu, XP_016863637.1:p.Gln736Ter, XP_016863637.1:p.Gln736Glu, XP_047306116.1:p.Gln753Ter, XP_047306116.1:p.Gln753Glu, XP_047306123.1:p.Gln752Ter, XP_047306123.1:p.Gln752Glu, XP_047306127.1:p.Gln751Ter, XP_047306127.1:p.Gln751Glu, XP_047306133.1:p.Gln750Ter, XP_047306133.1:p.Gln750Glu, XP_047306138.1:p.Gln731Ter, XP_047306138.1:p.Gln731Glu, XP_047306141.1:p.Gln730Ter, XP_047306141.1:p.Gln730Glu, XP_047306145.1:p.Gln729Ter, XP_047306145.1:p.Gln729Glu, XP_047306118.1:p.Gln753Ter, XP_047306118.1:p.Gln753Glu, XP_047306124.1:p.Gln752Ter, XP_047306124.1:p.Gln752Glu, XP_047306130.1:p.Gln751Ter, XP_047306130.1:p.Gln751Glu, XP_047306119.1:p.Gln753Ter, XP_047306119.1:p.Gln753Glu, XP_047306134.1:p.Gln750Ter, XP_047306134.1:p.Gln750Glu, XP_047306115.1:p.Gln753Ter, XP_047306115.1:p.Gln753Glu, XP_047306126.1:p.Gln752Ter, XP_047306126.1:p.Gln752Glu, XP_047306128.1:p.Gln751Ter, XP_047306128.1:p.Gln751Glu, XP_047306135.1:p.Gln750Ter, XP_047306135.1:p.Gln750Glu, XP_047306117.1:p.Gln753Ter, XP_047306117.1:p.Gln753Glu, XP_047306122.1:p.Gln752Ter, XP_047306122.1:p.Gln752Glu, XP_047306129.1:p.Gln751Ter, XP_047306129.1:p.Gln751Glu, XP_047306136.1:p.Gln750Ter, XP_047306136.1:p.Gln750Glu, XP_047306139.1:p.Gln731Ter, XP_047306139.1:p.Gln731Glu, XP_047306140.1:p.Gln731Ter, XP_047306140.1:p.Gln731Glu, XP_047306142.1:p.Gln730Ter, XP_047306142.1:p.Gln730Glu, XP_047306146.1:p.Gln729Ter, XP_047306146.1:p.Gln729Glu, XP_047306120.1:p.Gln753Ter, XP_047306120.1:p.Gln753Glu, XP_047306125.1:p.Gln752Ter, XP_047306125.1:p.Gln752Glu, XP_047306131.1:p.Gln751Ter, XP_047306131.1:p.Gln751Glu, XP_047306137.1:p.Gln750Ter, XP_047306137.1:p.Gln750Glu, XP_047306143.1:p.Gln730Ter, XP_047306143.1:p.Gln730Glu, XP_047306147.1:p.Gln729Ter, XP_047306147.1:p.Gln729Glu, XP_047306121.1:p.Gln753Ter, XP_047306121.1:p.Gln753Glu, XP_047306132.1:p.Gln751Ter, XP_047306132.1:p.Gln751Glu, XP_047306144.1:p.Gln730Ter, XP_047306144.1:p.Gln730Glu

                                  17.

                                  rs1399630604 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    4:40816203 (GRCh38)
                                    4:40818220 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:40816202:A:G
                                    Gene:
                                    APBB2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/2 (GnomAD_exomes)
                                    G=0.000011/3 (TOPMED)
                                    G=0.000021/3 (GnomAD)
                                    HGVS:
                                    NC_000004.12:g.40816203A>G, NC_000004.11:g.40818220A>G, NG_013337.1:g.403416T>C, NM_173075.5:c.2100T>C, NM_173075.4:c.2100T>C, NM_004307.2:c.2169T>C, NM_004307.1:c.2169T>C, NM_001166050.2:c.2166T>C, NM_001166050.1:c.2166T>C, NM_001330656.2:c.2103T>C, NM_001330656.1:c.2103T>C, NM_001330658.2:c.2103T>C, NM_001330658.1:c.2103T>C, NM_001166051.2:c.522T>C, NM_001166051.1:c.522T>C, NM_001166052.2:c.522T>C, NM_001166052.1:c.522T>C, NM_001166053.1:c.522T>C, NM_001166054.1:c.522T>C, XM_006714005.5:c.2175T>C, XM_006714005.4:c.2175T>C, XM_006714005.3:c.2175T>C, XM_006714005.2:c.2175T>C, XM_006714005.1:c.2175T>C, XM_006714010.5:c.2172T>C, XM_006714010.4:c.2172T>C, XM_006714010.3:c.2172T>C, XM_006714010.2:c.2172T>C, XM_006714010.1:c.2172T>C, XM_006714011.5:c.2112T>C, XM_006714011.4:c.2112T>C, XM_006714011.3:c.2112T>C, XM_006714011.2:c.2112T>C, XM_006714011.1:c.2112T>C, XM_006714012.5:c.2109T>C, XM_006714012.4:c.2109T>C, XM_006714012.3:c.2109T>C, XM_006714012.2:c.2109T>C, XM_006714012.1:c.2109T>C, XM_006714008.5:c.2175T>C, XM_006714008.4:c.2175T>C, XM_006714008.3:c.2175T>C, XM_006714008.2:c.2175T>C, XM_006714008.1:c.2175T>C, XM_011513687.4:c.2106T>C, XM_011513687.3:c.2106T>C, XM_011513687.2:c.2106T>C, XM_011513687.1:c.2106T>C, XM_017008146.3:c.2124T>C, XM_017008146.2:c.2124T>C, XM_017008146.1:c.2124T>C, XM_017008144.3:c.2172T>C, XM_017008144.2:c.2172T>C, XM_017008144.1:c.2172T>C, XM_017008145.3:c.2169T>C, XM_017008145.2:c.2169T>C, XM_017008145.1:c.2169T>C, XM_017008151.3:c.2112T>C, XM_017008151.2:c.2112T>C, XM_017008151.1:c.2112T>C, XM_017008152.3:c.2109T>C, XM_017008152.2:c.2109T>C, XM_017008152.1:c.2109T>C, XM_017008154.3:c.2106T>C, XM_017008154.2:c.2106T>C, XM_017008154.1:c.2106T>C, XM_017008148.3:c.2124T>C, XM_017008148.2:c.2124T>C, XM_017008148.1:c.2124T>C, XM_047450160.1:c.2175T>C, XM_047450167.1:c.2172T>C, XM_047450171.1:c.2169T>C, XM_047450177.1:c.2166T>C, XM_047450182.1:c.2109T>C, XM_047450185.1:c.2106T>C, XM_047450189.1:c.2103T>C, XM_047450162.1:c.2175T>C, XM_047450168.1:c.2172T>C, XM_047450174.1:c.2169T>C, XM_047450163.1:c.2175T>C, XM_047450178.1:c.2166T>C, XM_047450159.1:c.2175T>C, XM_047450170.1:c.2172T>C, XM_047450172.1:c.2169T>C, XM_047450179.1:c.2166T>C, XM_047450161.1:c.2175T>C, XM_047450166.1:c.2172T>C, XM_047450173.1:c.2169T>C, XM_047450180.1:c.2166T>C, XM_047450183.1:c.2109T>C, XM_047450184.1:c.2109T>C, XM_047450186.1:c.2106T>C, XM_047450190.1:c.2103T>C, XM_047450164.1:c.2175T>C, XM_047450169.1:c.2172T>C, XM_047450175.1:c.2169T>C, XM_047450181.1:c.2166T>C, XM_047450187.1:c.2106T>C, XM_047450191.1:c.2103T>C, XM_047450165.1:c.2175T>C, XM_047450176.1:c.2169T>C, XM_047450188.1:c.2106T>C

                                    18.

                                    rs1395471465 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      4:40821881 (GRCh38)
                                      4:40823898 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:40821880:G:A
                                      Gene:
                                      APBB2 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      HGVS:
                                      NC_000004.12:g.40821881G>A, NC_000004.11:g.40823898G>A, NG_013337.1:g.397738C>T, NM_173075.5:c.2033C>T, NM_173075.4:c.2033C>T, NM_004307.2:c.2102C>T, NM_004307.1:c.2102C>T, NM_001166050.2:c.2099C>T, NM_001166050.1:c.2099C>T, NM_001330656.2:c.2036C>T, NM_001330656.1:c.2036C>T, NM_001330658.2:c.2036C>T, NM_001330658.1:c.2036C>T, NM_001166051.2:c.455C>T, NM_001166051.1:c.455C>T, NM_001166052.2:c.455C>T, NM_001166052.1:c.455C>T, NM_001166053.1:c.455C>T, NM_001166054.1:c.455C>T, XM_006714005.5:c.2108C>T, XM_006714005.4:c.2108C>T, XM_006714005.3:c.2108C>T, XM_006714005.2:c.2108C>T, XM_006714005.1:c.2108C>T, XM_006714010.5:c.2105C>T, XM_006714010.4:c.2105C>T, XM_006714010.3:c.2105C>T, XM_006714010.2:c.2105C>T, XM_006714010.1:c.2105C>T, XM_006714011.5:c.2045C>T, XM_006714011.4:c.2045C>T, XM_006714011.3:c.2045C>T, XM_006714011.2:c.2045C>T, XM_006714011.1:c.2045C>T, XM_006714012.5:c.2042C>T, XM_006714012.4:c.2042C>T, XM_006714012.3:c.2042C>T, XM_006714012.2:c.2042C>T, XM_006714012.1:c.2042C>T, XM_006714008.5:c.2108C>T, XM_006714008.4:c.2108C>T, XM_006714008.3:c.2108C>T, XM_006714008.2:c.2108C>T, XM_006714008.1:c.2108C>T, XM_011513687.4:c.2039C>T, XM_011513687.3:c.2039C>T, XM_011513687.2:c.2039C>T, XM_011513687.1:c.2039C>T, XM_017008146.3:c.2057C>T, XM_017008146.2:c.2057C>T, XM_017008146.1:c.2057C>T, XM_017008144.3:c.2105C>T, XM_017008144.2:c.2105C>T, XM_017008144.1:c.2105C>T, XM_017008145.3:c.2102C>T, XM_017008145.2:c.2102C>T, XM_017008145.1:c.2102C>T, XM_017008151.3:c.2045C>T, XM_017008151.2:c.2045C>T, XM_017008151.1:c.2045C>T, XM_017008152.3:c.2042C>T, XM_017008152.2:c.2042C>T, XM_017008152.1:c.2042C>T, XM_017008154.3:c.2039C>T, XM_017008154.2:c.2039C>T, XM_017008154.1:c.2039C>T, XM_017008148.3:c.2057C>T, XM_017008148.2:c.2057C>T, XM_017008148.1:c.2057C>T, XM_047450160.1:c.2108C>T, XM_047450167.1:c.2105C>T, XM_047450171.1:c.2102C>T, XM_047450177.1:c.2099C>T, XM_047450182.1:c.2042C>T, XM_047450185.1:c.2039C>T, XM_047450189.1:c.2036C>T, XM_047450162.1:c.2108C>T, XM_047450168.1:c.2105C>T, XM_047450174.1:c.2102C>T, XM_047450163.1:c.2108C>T, XM_047450178.1:c.2099C>T, XM_047450159.1:c.2108C>T, XM_047450170.1:c.2105C>T, XM_047450172.1:c.2102C>T, XM_047450179.1:c.2099C>T, XM_047450161.1:c.2108C>T, XM_047450166.1:c.2105C>T, XM_047450173.1:c.2102C>T, XM_047450180.1:c.2099C>T, XM_047450183.1:c.2042C>T, XM_047450184.1:c.2042C>T, XM_047450186.1:c.2039C>T, XM_047450190.1:c.2036C>T, XM_047450164.1:c.2108C>T, XM_047450169.1:c.2105C>T, XM_047450175.1:c.2102C>T, XM_047450181.1:c.2099C>T, XM_047450187.1:c.2039C>T, XM_047450191.1:c.2036C>T, XM_047450165.1:c.2108C>T, XM_047450176.1:c.2102C>T, XM_047450188.1:c.2039C>T, NP_775098.2:p.Ala678Val, NP_004298.1:p.Ala701Val, NP_001159522.1:p.Ala700Val, NP_001317585.1:p.Ala679Val, NP_001317587.1:p.Ala679Val, NP_001159523.1:p.Ala152Val, NP_001159524.1:p.Ala152Val, NP_001159525.1:p.Ala152Val, NP_001159526.1:p.Ala152Val, XP_006714068.1:p.Ala703Val, XP_006714073.1:p.Ala702Val, XP_006714074.1:p.Ala682Val, XP_006714075.1:p.Ala681Val, XP_006714071.1:p.Ala703Val, XP_011511989.1:p.Ala680Val, XP_016863635.1:p.Ala686Val, XP_016863633.1:p.Ala702Val, XP_016863634.1:p.Ala701Val, XP_016863640.1:p.Ala682Val, XP_016863641.1:p.Ala681Val, XP_016863643.1:p.Ala680Val, XP_016863637.1:p.Ala686Val, XP_047306116.1:p.Ala703Val, XP_047306123.1:p.Ala702Val, XP_047306127.1:p.Ala701Val, XP_047306133.1:p.Ala700Val, XP_047306138.1:p.Ala681Val, XP_047306141.1:p.Ala680Val, XP_047306145.1:p.Ala679Val, XP_047306118.1:p.Ala703Val, XP_047306124.1:p.Ala702Val, XP_047306130.1:p.Ala701Val, XP_047306119.1:p.Ala703Val, XP_047306134.1:p.Ala700Val, XP_047306115.1:p.Ala703Val, XP_047306126.1:p.Ala702Val, XP_047306128.1:p.Ala701Val, XP_047306135.1:p.Ala700Val, XP_047306117.1:p.Ala703Val, XP_047306122.1:p.Ala702Val, XP_047306129.1:p.Ala701Val, XP_047306136.1:p.Ala700Val, XP_047306139.1:p.Ala681Val, XP_047306140.1:p.Ala681Val, XP_047306142.1:p.Ala680Val, XP_047306146.1:p.Ala679Val, XP_047306120.1:p.Ala703Val, XP_047306125.1:p.Ala702Val, XP_047306131.1:p.Ala701Val, XP_047306137.1:p.Ala700Val, XP_047306143.1:p.Ala680Val, XP_047306147.1:p.Ala679Val, XP_047306121.1:p.Ala703Val, XP_047306132.1:p.Ala701Val, XP_047306144.1:p.Ala680Val

                                      19.

                                      rs1392460457 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        4:40823651 (GRCh38)
                                        4:40825668 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:40823650:C:T
                                        Gene:
                                        APBB2 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (GnomAD_exomes)
                                        T=0.000045/12 (TOPMED)
                                        T=0.000057/8 (GnomAD)
                                        HGVS:
                                        NC_000004.12:g.40823651C>T, NC_000004.11:g.40825668C>T, NG_013337.1:g.395968G>A, NM_173075.5:c.1856G>A, NM_173075.4:c.1856G>A, NM_004307.2:c.1925G>A, NM_004307.1:c.1925G>A, NM_001166050.2:c.1922G>A, NM_001166050.1:c.1922G>A, NM_001330656.2:c.1859G>A, NM_001330656.1:c.1859G>A, NM_001330658.2:c.1859G>A, NM_001330658.1:c.1859G>A, NM_001166051.2:c.278G>A, NM_001166051.1:c.278G>A, NM_001166052.2:c.278G>A, NM_001166052.1:c.278G>A, NM_001166053.1:c.278G>A, NM_001166054.1:c.278G>A, XM_006714005.5:c.1931G>A, XM_006714005.4:c.1931G>A, XM_006714005.3:c.1931G>A, XM_006714005.2:c.1931G>A, XM_006714005.1:c.1931G>A, XM_006714010.5:c.1928G>A, XM_006714010.4:c.1928G>A, XM_006714010.3:c.1928G>A, XM_006714010.2:c.1928G>A, XM_006714010.1:c.1928G>A, XM_006714011.5:c.1868G>A, XM_006714011.4:c.1868G>A, XM_006714011.3:c.1868G>A, XM_006714011.2:c.1868G>A, XM_006714011.1:c.1868G>A, XM_006714012.5:c.1865G>A, XM_006714012.4:c.1865G>A, XM_006714012.3:c.1865G>A, XM_006714012.2:c.1865G>A, XM_006714012.1:c.1865G>A, XM_006714008.5:c.1931G>A, XM_006714008.4:c.1931G>A, XM_006714008.3:c.1931G>A, XM_006714008.2:c.1931G>A, XM_006714008.1:c.1931G>A, XM_011513687.4:c.1862G>A, XM_011513687.3:c.1862G>A, XM_011513687.2:c.1862G>A, XM_011513687.1:c.1862G>A, XM_017008146.3:c.1880G>A, XM_017008146.2:c.1880G>A, XM_017008146.1:c.1880G>A, XM_017008144.3:c.1928G>A, XM_017008144.2:c.1928G>A, XM_017008144.1:c.1928G>A, XM_017008145.3:c.1925G>A, XM_017008145.2:c.1925G>A, XM_017008145.1:c.1925G>A, XM_017008151.3:c.1868G>A, XM_017008151.2:c.1868G>A, XM_017008151.1:c.1868G>A, XM_017008152.3:c.1865G>A, XM_017008152.2:c.1865G>A, XM_017008152.1:c.1865G>A, XM_017008154.3:c.1862G>A, XM_017008154.2:c.1862G>A, XM_017008154.1:c.1862G>A, XM_017008148.3:c.1880G>A, XM_017008148.2:c.1880G>A, XM_017008148.1:c.1880G>A, XM_047450160.1:c.1931G>A, XM_047450167.1:c.1928G>A, XM_047450171.1:c.1925G>A, XM_047450177.1:c.1922G>A, XM_047450182.1:c.1865G>A, XM_047450185.1:c.1862G>A, XM_047450189.1:c.1859G>A, XM_047450162.1:c.1931G>A, XM_047450168.1:c.1928G>A, XM_047450174.1:c.1925G>A, XM_047450163.1:c.1931G>A, XM_047450178.1:c.1922G>A, XM_047450159.1:c.1931G>A, XM_047450170.1:c.1928G>A, XM_047450172.1:c.1925G>A, XM_047450179.1:c.1922G>A, XM_047450161.1:c.1931G>A, XM_047450166.1:c.1928G>A, XM_047450173.1:c.1925G>A, XM_047450180.1:c.1922G>A, XM_047450183.1:c.1865G>A, XM_047450184.1:c.1865G>A, XM_047450186.1:c.1862G>A, XM_047450190.1:c.1859G>A, XM_047450164.1:c.1931G>A, XM_047450169.1:c.1928G>A, XM_047450175.1:c.1925G>A, XM_047450181.1:c.1922G>A, XM_047450187.1:c.1862G>A, XM_047450191.1:c.1859G>A, XM_047450165.1:c.1931G>A, XM_047450176.1:c.1925G>A, XM_047450188.1:c.1862G>A, NP_775098.2:p.Ser619Asn, NP_004298.1:p.Ser642Asn, NP_001159522.1:p.Ser641Asn, NP_001317585.1:p.Ser620Asn, NP_001317587.1:p.Ser620Asn, NP_001159523.1:p.Ser93Asn, NP_001159524.1:p.Ser93Asn, NP_001159525.1:p.Ser93Asn, NP_001159526.1:p.Ser93Asn, XP_006714068.1:p.Ser644Asn, XP_006714073.1:p.Ser643Asn, XP_006714074.1:p.Ser623Asn, XP_006714075.1:p.Ser622Asn, XP_006714071.1:p.Ser644Asn, XP_011511989.1:p.Ser621Asn, XP_016863635.1:p.Ser627Asn, XP_016863633.1:p.Ser643Asn, XP_016863634.1:p.Ser642Asn, XP_016863640.1:p.Ser623Asn, XP_016863641.1:p.Ser622Asn, XP_016863643.1:p.Ser621Asn, XP_016863637.1:p.Ser627Asn, XP_047306116.1:p.Ser644Asn, XP_047306123.1:p.Ser643Asn, XP_047306127.1:p.Ser642Asn, XP_047306133.1:p.Ser641Asn, XP_047306138.1:p.Ser622Asn, XP_047306141.1:p.Ser621Asn, XP_047306145.1:p.Ser620Asn, XP_047306118.1:p.Ser644Asn, XP_047306124.1:p.Ser643Asn, XP_047306130.1:p.Ser642Asn, XP_047306119.1:p.Ser644Asn, XP_047306134.1:p.Ser641Asn, XP_047306115.1:p.Ser644Asn, XP_047306126.1:p.Ser643Asn, XP_047306128.1:p.Ser642Asn, XP_047306135.1:p.Ser641Asn, XP_047306117.1:p.Ser644Asn, XP_047306122.1:p.Ser643Asn, XP_047306129.1:p.Ser642Asn, XP_047306136.1:p.Ser641Asn, XP_047306139.1:p.Ser622Asn, XP_047306140.1:p.Ser622Asn, XP_047306142.1:p.Ser621Asn, XP_047306146.1:p.Ser620Asn, XP_047306120.1:p.Ser644Asn, XP_047306125.1:p.Ser643Asn, XP_047306131.1:p.Ser642Asn, XP_047306137.1:p.Ser641Asn, XP_047306143.1:p.Ser621Asn, XP_047306147.1:p.Ser620Asn, XP_047306121.1:p.Ser644Asn, XP_047306132.1:p.Ser642Asn, XP_047306144.1:p.Ser621Asn

                                        20.

                                        rs1388631438 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          4:40821980 (GRCh38)
                                          4:40823997 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:40821979:T:C
                                          Gene:
                                          APBB2 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (GnomAD_exomes)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000004.12:g.40821980T>C, NC_000004.11:g.40823997T>C, NG_013337.1:g.397639A>G, NM_173075.5:c.1934A>G, NM_173075.4:c.1934A>G, NM_004307.2:c.2003A>G, NM_004307.1:c.2003A>G, NM_001166050.2:c.2000A>G, NM_001166050.1:c.2000A>G, NM_001330656.2:c.1937A>G, NM_001330656.1:c.1937A>G, NM_001330658.2:c.1937A>G, NM_001330658.1:c.1937A>G, NM_001166051.2:c.356A>G, NM_001166051.1:c.356A>G, NM_001166052.2:c.356A>G, NM_001166052.1:c.356A>G, NM_001166053.1:c.356A>G, NM_001166054.1:c.356A>G, XM_006714005.5:c.2009A>G, XM_006714005.4:c.2009A>G, XM_006714005.3:c.2009A>G, XM_006714005.2:c.2009A>G, XM_006714005.1:c.2009A>G, XM_006714010.5:c.2006A>G, XM_006714010.4:c.2006A>G, XM_006714010.3:c.2006A>G, XM_006714010.2:c.2006A>G, XM_006714010.1:c.2006A>G, XM_006714011.5:c.1946A>G, XM_006714011.4:c.1946A>G, XM_006714011.3:c.1946A>G, XM_006714011.2:c.1946A>G, XM_006714011.1:c.1946A>G, XM_006714012.5:c.1943A>G, XM_006714012.4:c.1943A>G, XM_006714012.3:c.1943A>G, XM_006714012.2:c.1943A>G, XM_006714012.1:c.1943A>G, XM_006714008.5:c.2009A>G, XM_006714008.4:c.2009A>G, XM_006714008.3:c.2009A>G, XM_006714008.2:c.2009A>G, XM_006714008.1:c.2009A>G, XM_011513687.4:c.1940A>G, XM_011513687.3:c.1940A>G, XM_011513687.2:c.1940A>G, XM_011513687.1:c.1940A>G, XM_017008146.3:c.1958A>G, XM_017008146.2:c.1958A>G, XM_017008146.1:c.1958A>G, XM_017008144.3:c.2006A>G, XM_017008144.2:c.2006A>G, XM_017008144.1:c.2006A>G, XM_017008145.3:c.2003A>G, XM_017008145.2:c.2003A>G, XM_017008145.1:c.2003A>G, XM_017008151.3:c.1946A>G, XM_017008151.2:c.1946A>G, XM_017008151.1:c.1946A>G, XM_017008152.3:c.1943A>G, XM_017008152.2:c.1943A>G, XM_017008152.1:c.1943A>G, XM_017008154.3:c.1940A>G, XM_017008154.2:c.1940A>G, XM_017008154.1:c.1940A>G, XM_017008148.3:c.1958A>G, XM_017008148.2:c.1958A>G, XM_017008148.1:c.1958A>G, XM_047450160.1:c.2009A>G, XM_047450167.1:c.2006A>G, XM_047450171.1:c.2003A>G, XM_047450177.1:c.2000A>G, XM_047450182.1:c.1943A>G, XM_047450185.1:c.1940A>G, XM_047450189.1:c.1937A>G, XM_047450162.1:c.2009A>G, XM_047450168.1:c.2006A>G, XM_047450174.1:c.2003A>G, XM_047450163.1:c.2009A>G, XM_047450178.1:c.2000A>G, XM_047450159.1:c.2009A>G, XM_047450170.1:c.2006A>G, XM_047450172.1:c.2003A>G, XM_047450179.1:c.2000A>G, XM_047450161.1:c.2009A>G, XM_047450166.1:c.2006A>G, XM_047450173.1:c.2003A>G, XM_047450180.1:c.2000A>G, XM_047450183.1:c.1943A>G, XM_047450184.1:c.1943A>G, XM_047450186.1:c.1940A>G, XM_047450190.1:c.1937A>G, XM_047450164.1:c.2009A>G, XM_047450169.1:c.2006A>G, XM_047450175.1:c.2003A>G, XM_047450181.1:c.2000A>G, XM_047450187.1:c.1940A>G, XM_047450191.1:c.1937A>G, XM_047450165.1:c.2009A>G, XM_047450176.1:c.2003A>G, XM_047450188.1:c.1940A>G, NP_775098.2:p.His645Arg, NP_004298.1:p.His668Arg, NP_001159522.1:p.His667Arg, NP_001317585.1:p.His646Arg, NP_001317587.1:p.His646Arg, NP_001159523.1:p.His119Arg, NP_001159524.1:p.His119Arg, NP_001159525.1:p.His119Arg, NP_001159526.1:p.His119Arg, XP_006714068.1:p.His670Arg, XP_006714073.1:p.His669Arg, XP_006714074.1:p.His649Arg, XP_006714075.1:p.His648Arg, XP_006714071.1:p.His670Arg, XP_011511989.1:p.His647Arg, XP_016863635.1:p.His653Arg, XP_016863633.1:p.His669Arg, XP_016863634.1:p.His668Arg, XP_016863640.1:p.His649Arg, XP_016863641.1:p.His648Arg, XP_016863643.1:p.His647Arg, XP_016863637.1:p.His653Arg, XP_047306116.1:p.His670Arg, XP_047306123.1:p.His669Arg, XP_047306127.1:p.His668Arg, XP_047306133.1:p.His667Arg, XP_047306138.1:p.His648Arg, XP_047306141.1:p.His647Arg, XP_047306145.1:p.His646Arg, XP_047306118.1:p.His670Arg, XP_047306124.1:p.His669Arg, XP_047306130.1:p.His668Arg, XP_047306119.1:p.His670Arg, XP_047306134.1:p.His667Arg, XP_047306115.1:p.His670Arg, XP_047306126.1:p.His669Arg, XP_047306128.1:p.His668Arg, XP_047306135.1:p.His667Arg, XP_047306117.1:p.His670Arg, XP_047306122.1:p.His669Arg, XP_047306129.1:p.His668Arg, XP_047306136.1:p.His667Arg, XP_047306139.1:p.His648Arg, XP_047306140.1:p.His648Arg, XP_047306142.1:p.His647Arg, XP_047306146.1:p.His646Arg, XP_047306120.1:p.His670Arg, XP_047306125.1:p.His669Arg, XP_047306131.1:p.His668Arg, XP_047306137.1:p.His667Arg, XP_047306143.1:p.His647Arg, XP_047306147.1:p.His646Arg, XP_047306121.1:p.His670Arg, XP_047306132.1:p.His668Arg, XP_047306144.1:p.His647Arg

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