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Items: 1 to 20 of 648

1.

rs1486338954 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    4:41014084 (GRCh38)
    4:41016101 (GRCh37)
    Canonical SPDI:
    NC_000004.12:41014081:CTCT:CT
    Gene:
    APBB2 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,coding_sequence_variant,frameshift_variant
    Validated:
    by frequency
    MAF:
    -=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000004.12:g.41014082CT[1], NC_000004.11:g.41016099CT[1], NG_013337.1:g.205534AG[1], NM_173075.5:c.335_336del, NM_173075.4:c.335_336del, NM_004307.2:c.335_336del, NM_004307.1:c.335_336del, NM_001166050.2:c.335_336del, NM_001166050.1:c.335_336del, NM_001330656.2:c.335_336del, NM_001330656.1:c.335_336del, NM_001330658.2:c.335_336del, NM_001330658.1:c.335_336del, XM_006714005.5:c.335_336del, XM_006714005.4:c.335_336del, XM_006714005.3:c.335_336del, XM_006714005.2:c.335_336del, XM_006714005.1:c.335_336del, XM_006714010.5:c.335_336del, XM_006714010.4:c.335_336del, XM_006714010.3:c.335_336del, XM_006714010.2:c.335_336del, XM_006714010.1:c.335_336del, XM_006714011.5:c.335_336del, XM_006714011.4:c.335_336del, XM_006714011.3:c.335_336del, XM_006714011.2:c.335_336del, XM_006714011.1:c.335_336del, XM_006714012.5:c.335_336del, XM_006714012.4:c.335_336del, XM_006714012.3:c.335_336del, XM_006714012.2:c.335_336del, XM_006714012.1:c.335_336del, XM_006714008.5:c.335_336del, XM_006714008.4:c.335_336del, XM_006714008.3:c.335_336del, XM_006714008.2:c.335_336del, XM_006714008.1:c.335_336del, XM_011513687.4:c.335_336del, XM_011513687.3:c.335_336del, XM_011513687.2:c.335_336del, XM_011513687.1:c.335_336del, XM_017008146.3:c.284_285del, XM_017008146.2:c.284_285del, XM_017008146.1:c.284_285del, XM_017008144.3:c.335_336del, XM_017008144.2:c.335_336del, XM_017008144.1:c.335_336del, XM_017008145.3:c.335_336del, XM_017008145.2:c.335_336del, XM_017008145.1:c.335_336del, XM_017008151.3:c.335_336del, XM_017008151.2:c.335_336del, XM_017008151.1:c.335_336del, XM_017008152.3:c.335_336del, XM_017008152.2:c.335_336del, XM_017008152.1:c.335_336del, XM_017008154.3:c.335_336del, XM_017008154.2:c.335_336del, XM_017008154.1:c.335_336del, XM_017008148.3:c.284_285del, XM_017008148.2:c.284_285del, XM_017008148.1:c.284_285del, XM_047450160.1:c.335_336del, XM_047450167.1:c.335_336del, XM_047450171.1:c.335_336del, XM_047450177.1:c.335_336del, XM_047450182.1:c.335_336del, XM_047450185.1:c.335_336del, XM_047450189.1:c.335_336del, XM_047450162.1:c.335_336del, XM_047450168.1:c.335_336del, XM_047450174.1:c.335_336del, XM_047450163.1:c.335_336del, XM_047450178.1:c.335_336del, XM_047450159.1:c.335_336del, XM_047450170.1:c.335_336del, XM_047450172.1:c.335_336del, XM_047450179.1:c.335_336del, XM_047450161.1:c.335_336del, XM_047450166.1:c.335_336del, XM_047450173.1:c.335_336del, XM_047450180.1:c.335_336del, XM_047450183.1:c.335_336del, XM_047450184.1:c.335_336del, XM_047450186.1:c.335_336del, XM_047450190.1:c.335_336del, XM_047450164.1:c.335_336del, XM_047450169.1:c.335_336del, XM_047450175.1:c.335_336del, XM_047450181.1:c.335_336del, XM_047450187.1:c.335_336del, XM_047450191.1:c.335_336del, XM_047450165.1:c.335_336del, XM_047450176.1:c.335_336del, XM_047450188.1:c.335_336del, NP_775098.2:p.Glu112fs, NP_004298.1:p.Glu112fs, NP_001159522.1:p.Glu112fs, NP_001317585.1:p.Glu112fs, NP_001317587.1:p.Glu112fs, XP_006714068.1:p.Glu112fs, XP_006714073.1:p.Glu112fs, XP_006714074.1:p.Glu112fs, XP_006714075.1:p.Glu112fs, XP_006714071.1:p.Glu112fs, XP_011511989.1:p.Glu112fs, XP_016863635.1:p.Glu95fs, XP_016863633.1:p.Glu112fs, XP_016863634.1:p.Glu112fs, XP_016863640.1:p.Glu112fs, XP_016863641.1:p.Glu112fs, XP_016863643.1:p.Glu112fs, XP_016863637.1:p.Glu95fs, XP_047306116.1:p.Glu112fs, XP_047306123.1:p.Glu112fs, XP_047306127.1:p.Glu112fs, XP_047306133.1:p.Glu112fs, XP_047306138.1:p.Glu112fs, XP_047306141.1:p.Glu112fs, XP_047306145.1:p.Glu112fs, XP_047306118.1:p.Glu112fs, XP_047306124.1:p.Glu112fs, XP_047306130.1:p.Glu112fs, XP_047306119.1:p.Glu112fs, XP_047306134.1:p.Glu112fs, XP_047306115.1:p.Glu112fs, XP_047306126.1:p.Glu112fs, XP_047306128.1:p.Glu112fs, XP_047306135.1:p.Glu112fs, XP_047306117.1:p.Glu112fs, XP_047306122.1:p.Glu112fs, XP_047306129.1:p.Glu112fs, XP_047306136.1:p.Glu112fs, XP_047306139.1:p.Glu112fs, XP_047306140.1:p.Glu112fs, XP_047306142.1:p.Glu112fs, XP_047306146.1:p.Glu112fs, XP_047306120.1:p.Glu112fs, XP_047306125.1:p.Glu112fs, XP_047306131.1:p.Glu112fs, XP_047306137.1:p.Glu112fs, XP_047306143.1:p.Glu112fs, XP_047306147.1:p.Glu112fs, XP_047306121.1:p.Glu112fs, XP_047306132.1:p.Glu112fs, XP_047306144.1:p.Glu112fs

    2.

    rs1484467691 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      4:41014183 (GRCh38)
      4:41016200 (GRCh37)
      Canonical SPDI:
      NC_000004.12:41014182:T:C
      Gene:
      APBB2 (Varview)
      Functional Consequence:
      missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000004.12:g.41014183T>C, NC_000004.11:g.41016200T>C, NG_013337.1:g.205436A>G, NM_173075.5:c.235A>G, NM_173075.4:c.235A>G, NM_004307.2:c.235A>G, NM_004307.1:c.235A>G, NM_001166050.2:c.235A>G, NM_001166050.1:c.235A>G, NM_001330656.2:c.235A>G, NM_001330656.1:c.235A>G, NM_001330658.2:c.235A>G, NM_001330658.1:c.235A>G, XM_006714005.5:c.235A>G, XM_006714005.4:c.235A>G, XM_006714005.3:c.235A>G, XM_006714005.2:c.235A>G, XM_006714005.1:c.235A>G, XM_006714010.5:c.235A>G, XM_006714010.4:c.235A>G, XM_006714010.3:c.235A>G, XM_006714010.2:c.235A>G, XM_006714010.1:c.235A>G, XM_006714011.5:c.235A>G, XM_006714011.4:c.235A>G, XM_006714011.3:c.235A>G, XM_006714011.2:c.235A>G, XM_006714011.1:c.235A>G, XM_006714012.5:c.235A>G, XM_006714012.4:c.235A>G, XM_006714012.3:c.235A>G, XM_006714012.2:c.235A>G, XM_006714012.1:c.235A>G, XM_006714008.5:c.235A>G, XM_006714008.4:c.235A>G, XM_006714008.3:c.235A>G, XM_006714008.2:c.235A>G, XM_006714008.1:c.235A>G, XM_011513687.4:c.235A>G, XM_011513687.3:c.235A>G, XM_011513687.2:c.235A>G, XM_011513687.1:c.235A>G, XM_017008146.3:c.184A>G, XM_017008146.2:c.184A>G, XM_017008146.1:c.184A>G, XM_017008144.3:c.235A>G, XM_017008144.2:c.235A>G, XM_017008144.1:c.235A>G, XM_017008145.3:c.235A>G, XM_017008145.2:c.235A>G, XM_017008145.1:c.235A>G, XM_017008151.3:c.235A>G, XM_017008151.2:c.235A>G, XM_017008151.1:c.235A>G, XM_017008152.3:c.235A>G, XM_017008152.2:c.235A>G, XM_017008152.1:c.235A>G, XM_017008154.3:c.235A>G, XM_017008154.2:c.235A>G, XM_017008154.1:c.235A>G, XM_017008148.3:c.184A>G, XM_017008148.2:c.184A>G, XM_017008148.1:c.184A>G, XM_047450160.1:c.235A>G, XM_047450167.1:c.235A>G, XM_047450171.1:c.235A>G, XM_047450177.1:c.235A>G, XM_047450182.1:c.235A>G, XM_047450185.1:c.235A>G, XM_047450189.1:c.235A>G, XM_047450162.1:c.235A>G, XM_047450168.1:c.235A>G, XM_047450174.1:c.235A>G, XM_047450163.1:c.235A>G, XM_047450178.1:c.235A>G, XM_047450159.1:c.235A>G, XM_047450170.1:c.235A>G, XM_047450172.1:c.235A>G, XM_047450179.1:c.235A>G, XM_047450161.1:c.235A>G, XM_047450166.1:c.235A>G, XM_047450173.1:c.235A>G, XM_047450180.1:c.235A>G, XM_047450183.1:c.235A>G, XM_047450184.1:c.235A>G, XM_047450186.1:c.235A>G, XM_047450190.1:c.235A>G, XM_047450164.1:c.235A>G, XM_047450169.1:c.235A>G, XM_047450175.1:c.235A>G, XM_047450181.1:c.235A>G, XM_047450187.1:c.235A>G, XM_047450191.1:c.235A>G, XM_047450165.1:c.235A>G, XM_047450176.1:c.235A>G, XM_047450188.1:c.235A>G, NP_775098.2:p.Met79Val, NP_004298.1:p.Met79Val, NP_001159522.1:p.Met79Val, NP_001317585.1:p.Met79Val, NP_001317587.1:p.Met79Val, XP_006714068.1:p.Met79Val, XP_006714073.1:p.Met79Val, XP_006714074.1:p.Met79Val, XP_006714075.1:p.Met79Val, XP_006714071.1:p.Met79Val, XP_011511989.1:p.Met79Val, XP_016863635.1:p.Met62Val, XP_016863633.1:p.Met79Val, XP_016863634.1:p.Met79Val, XP_016863640.1:p.Met79Val, XP_016863641.1:p.Met79Val, XP_016863643.1:p.Met79Val, XP_016863637.1:p.Met62Val, XP_047306116.1:p.Met79Val, XP_047306123.1:p.Met79Val, XP_047306127.1:p.Met79Val, XP_047306133.1:p.Met79Val, XP_047306138.1:p.Met79Val, XP_047306141.1:p.Met79Val, XP_047306145.1:p.Met79Val, XP_047306118.1:p.Met79Val, XP_047306124.1:p.Met79Val, XP_047306130.1:p.Met79Val, XP_047306119.1:p.Met79Val, XP_047306134.1:p.Met79Val, XP_047306115.1:p.Met79Val, XP_047306126.1:p.Met79Val, XP_047306128.1:p.Met79Val, XP_047306135.1:p.Met79Val, XP_047306117.1:p.Met79Val, XP_047306122.1:p.Met79Val, XP_047306129.1:p.Met79Val, XP_047306136.1:p.Met79Val, XP_047306139.1:p.Met79Val, XP_047306140.1:p.Met79Val, XP_047306142.1:p.Met79Val, XP_047306146.1:p.Met79Val, XP_047306120.1:p.Met79Val, XP_047306125.1:p.Met79Val, XP_047306131.1:p.Met79Val, XP_047306137.1:p.Met79Val, XP_047306143.1:p.Met79Val, XP_047306147.1:p.Met79Val, XP_047306121.1:p.Met79Val, XP_047306132.1:p.Met79Val, XP_047306144.1:p.Met79Val

      3.

      rs1483338542 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        4:40890370 (GRCh38)
        4:40892387 (GRCh37)
        Canonical SPDI:
        NC_000004.12:40890369:T:C
        Gene:
        APBB2 (Varview)
        Functional Consequence:
        missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0.000094/2 (ALFA)
        C=0.000008/2 (GnomAD_exomes)
        HGVS:
        NC_000004.12:g.40890370T>C, NC_000004.11:g.40892387T>C, NG_013337.1:g.329249A>G, NM_173075.5:c.1457A>G, NM_173075.4:c.1457A>G, NM_004307.2:c.1523A>G, NM_004307.1:c.1523A>G, NM_001166050.2:c.1520A>G, NM_001166050.1:c.1520A>G, NM_001330656.2:c.1457A>G, NM_001330656.1:c.1457A>G, NM_001330658.2:c.1457A>G, NM_001330658.1:c.1457A>G, XM_006714005.5:c.1523A>G, XM_006714005.4:c.1523A>G, XM_006714005.3:c.1523A>G, XM_006714005.2:c.1523A>G, XM_006714005.1:c.1523A>G, XM_006714010.5:c.1520A>G, XM_006714010.4:c.1520A>G, XM_006714010.3:c.1520A>G, XM_006714010.2:c.1520A>G, XM_006714010.1:c.1520A>G, XM_006714011.5:c.1460A>G, XM_006714011.4:c.1460A>G, XM_006714011.3:c.1460A>G, XM_006714011.2:c.1460A>G, XM_006714011.1:c.1460A>G, XM_006714012.5:c.1457A>G, XM_006714012.4:c.1457A>G, XM_006714012.3:c.1457A>G, XM_006714012.2:c.1457A>G, XM_006714012.1:c.1457A>G, XM_006714008.5:c.1523A>G, XM_006714008.4:c.1523A>G, XM_006714008.3:c.1523A>G, XM_006714008.2:c.1523A>G, XM_006714008.1:c.1523A>G, XM_011513687.4:c.1460A>G, XM_011513687.3:c.1460A>G, XM_011513687.2:c.1460A>G, XM_011513687.1:c.1460A>G, XM_017008146.3:c.1472A>G, XM_017008146.2:c.1472A>G, XM_017008146.1:c.1472A>G, XM_017008144.3:c.1520A>G, XM_017008144.2:c.1520A>G, XM_017008144.1:c.1520A>G, XM_017008145.3:c.1523A>G, XM_017008145.2:c.1523A>G, XM_017008145.1:c.1523A>G, XM_017008151.3:c.1460A>G, XM_017008151.2:c.1460A>G, XM_017008151.1:c.1460A>G, XM_017008152.3:c.1457A>G, XM_017008152.2:c.1457A>G, XM_017008152.1:c.1457A>G, XM_017008154.3:c.1460A>G, XM_017008154.2:c.1460A>G, XM_017008154.1:c.1460A>G, XM_017008148.3:c.1472A>G, XM_017008148.2:c.1472A>G, XM_017008148.1:c.1472A>G, XM_047450160.1:c.1523A>G, XM_047450167.1:c.1520A>G, XM_047450171.1:c.1523A>G, XM_047450177.1:c.1520A>G, XM_047450182.1:c.1457A>G, XM_047450185.1:c.1460A>G, XM_047450189.1:c.1457A>G, XM_047450162.1:c.1523A>G, XM_047450168.1:c.1520A>G, XM_047450174.1:c.1523A>G, XM_047450163.1:c.1523A>G, XM_047450178.1:c.1520A>G, XM_047450159.1:c.1523A>G, XM_047450170.1:c.1520A>G, XM_047450172.1:c.1523A>G, XM_047450179.1:c.1520A>G, XM_047450161.1:c.1523A>G, XM_047450166.1:c.1520A>G, XM_047450173.1:c.1523A>G, XM_047450180.1:c.1520A>G, XM_047450183.1:c.1457A>G, XM_047450184.1:c.1457A>G, XM_047450186.1:c.1460A>G, XM_047450190.1:c.1457A>G, XM_047450164.1:c.1523A>G, XM_047450169.1:c.1520A>G, XM_047450175.1:c.1523A>G, XM_047450181.1:c.1520A>G, XM_047450187.1:c.1460A>G, XM_047450191.1:c.1457A>G, XM_047450165.1:c.1523A>G, XM_047450176.1:c.1523A>G, XM_047450188.1:c.1460A>G, NP_775098.2:p.Asn486Ser, NP_004298.1:p.Asn508Ser, NP_001159522.1:p.Asn507Ser, NP_001317585.1:p.Asn486Ser, NP_001317587.1:p.Asn486Ser, XP_006714068.1:p.Asn508Ser, XP_006714073.1:p.Asn507Ser, XP_006714074.1:p.Asn487Ser, XP_006714075.1:p.Asn486Ser, XP_006714071.1:p.Asn508Ser, XP_011511989.1:p.Asn487Ser, XP_016863635.1:p.Asn491Ser, XP_016863633.1:p.Asn507Ser, XP_016863634.1:p.Asn508Ser, XP_016863640.1:p.Asn487Ser, XP_016863641.1:p.Asn486Ser, XP_016863643.1:p.Asn487Ser, XP_016863637.1:p.Asn491Ser, XP_047306116.1:p.Asn508Ser, XP_047306123.1:p.Asn507Ser, XP_047306127.1:p.Asn508Ser, XP_047306133.1:p.Asn507Ser, XP_047306138.1:p.Asn486Ser, XP_047306141.1:p.Asn487Ser, XP_047306145.1:p.Asn486Ser, XP_047306118.1:p.Asn508Ser, XP_047306124.1:p.Asn507Ser, XP_047306130.1:p.Asn508Ser, XP_047306119.1:p.Asn508Ser, XP_047306134.1:p.Asn507Ser, XP_047306115.1:p.Asn508Ser, XP_047306126.1:p.Asn507Ser, XP_047306128.1:p.Asn508Ser, XP_047306135.1:p.Asn507Ser, XP_047306117.1:p.Asn508Ser, XP_047306122.1:p.Asn507Ser, XP_047306129.1:p.Asn508Ser, XP_047306136.1:p.Asn507Ser, XP_047306139.1:p.Asn486Ser, XP_047306140.1:p.Asn486Ser, XP_047306142.1:p.Asn487Ser, XP_047306146.1:p.Asn486Ser, XP_047306120.1:p.Asn508Ser, XP_047306125.1:p.Asn507Ser, XP_047306131.1:p.Asn508Ser, XP_047306137.1:p.Asn507Ser, XP_047306143.1:p.Asn487Ser, XP_047306147.1:p.Asn486Ser, XP_047306121.1:p.Asn508Ser, XP_047306132.1:p.Asn508Ser, XP_047306144.1:p.Asn487Ser

        4.

        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

          5.

          rs1480344059 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            A>- [Show Flanks]
            Chromosome:
            4:41014388 (GRCh38)
            4:41016405 (GRCh37)
            Canonical SPDI:
            NC_000004.12:41014387:A:
            Gene:
            APBB2 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,coding_sequence_variant,frameshift_variant,5_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            -=0.000007/1 (GnomAD)
            HGVS:
            NC_000004.12:g.41014388del, NC_000004.11:g.41016405del, NG_013337.1:g.205231del, NM_173075.5:c.30del, NM_173075.4:c.30del, NM_004307.2:c.30del, NM_004307.1:c.30del, NM_001166050.2:c.30del, NM_001166050.1:c.30del, NM_001330656.2:c.30del, NM_001330656.1:c.30del, NM_001330658.2:c.30del, NM_001330658.1:c.30del, XM_006714005.5:c.30del, XM_006714005.4:c.30del, XM_006714005.3:c.30del, XM_006714005.2:c.30del, XM_006714005.1:c.30del, XM_006714010.5:c.30del, XM_006714010.4:c.30del, XM_006714010.3:c.30del, XM_006714010.2:c.30del, XM_006714010.1:c.30del, XM_006714011.5:c.30del, XM_006714011.4:c.30del, XM_006714011.3:c.30del, XM_006714011.2:c.30del, XM_006714011.1:c.30del, XM_006714012.5:c.30del, XM_006714012.4:c.30del, XM_006714012.3:c.30del, XM_006714012.2:c.30del, XM_006714012.1:c.30del, XM_006714008.5:c.30del, XM_006714008.4:c.30del, XM_006714008.3:c.30del, XM_006714008.2:c.30del, XM_006714008.1:c.30del, XM_011513687.4:c.30del, XM_011513687.3:c.30del, XM_011513687.2:c.30del, XM_011513687.1:c.30del, XM_017008146.3:c.-22del, XM_017008146.2:c.-22del, XM_017008146.1:c.-22del, XM_017008144.3:c.30del, XM_017008144.2:c.30del, XM_017008144.1:c.30del, XM_017008145.3:c.30del, XM_017008145.2:c.30del, XM_017008145.1:c.30del, XM_017008151.3:c.30del, XM_017008151.2:c.30del, XM_017008151.1:c.30del, XM_017008152.3:c.30del, XM_017008152.2:c.30del, XM_017008152.1:c.30del, XM_017008154.3:c.30del, XM_017008154.2:c.30del, XM_017008154.1:c.30del, XM_017008148.3:c.-22del, XM_017008148.2:c.-22del, XM_017008148.1:c.-22del, XM_047450160.1:c.30del, XM_047450167.1:c.30del, XM_047450171.1:c.30del, XM_047450177.1:c.30del, XM_047450182.1:c.30del, XM_047450185.1:c.30del, XM_047450189.1:c.30del, XM_047450162.1:c.30del, XM_047450168.1:c.30del, XM_047450174.1:c.30del, XM_047450163.1:c.30del, XM_047450178.1:c.30del, XM_047450159.1:c.30del, XM_047450170.1:c.30del, XM_047450172.1:c.30del, XM_047450179.1:c.30del, XM_047450161.1:c.30del, XM_047450166.1:c.30del, XM_047450173.1:c.30del, XM_047450180.1:c.30del, XM_047450183.1:c.30del, XM_047450184.1:c.30del, XM_047450186.1:c.30del, XM_047450190.1:c.30del, XM_047450164.1:c.30del, XM_047450169.1:c.30del, XM_047450175.1:c.30del, XM_047450181.1:c.30del, XM_047450187.1:c.30del, XM_047450191.1:c.30del, XM_047450165.1:c.30del, XM_047450176.1:c.30del, XM_047450188.1:c.30del, NP_775098.2:p.Val11fs, NP_004298.1:p.Val11fs, NP_001159522.1:p.Val11fs, NP_001317585.1:p.Val11fs, NP_001317587.1:p.Val11fs, XP_006714068.1:p.Val11fs, XP_006714073.1:p.Val11fs, XP_006714074.1:p.Val11fs, XP_006714075.1:p.Val11fs, XP_006714071.1:p.Val11fs, XP_011511989.1:p.Val11fs, XP_016863633.1:p.Val11fs, XP_016863634.1:p.Val11fs, XP_016863640.1:p.Val11fs, XP_016863641.1:p.Val11fs, XP_016863643.1:p.Val11fs, XP_047306116.1:p.Val11fs, XP_047306123.1:p.Val11fs, XP_047306127.1:p.Val11fs, XP_047306133.1:p.Val11fs, XP_047306138.1:p.Val11fs, XP_047306141.1:p.Val11fs, XP_047306145.1:p.Val11fs, XP_047306118.1:p.Val11fs, XP_047306124.1:p.Val11fs, XP_047306130.1:p.Val11fs, XP_047306119.1:p.Val11fs, XP_047306134.1:p.Val11fs, XP_047306115.1:p.Val11fs, XP_047306126.1:p.Val11fs, XP_047306128.1:p.Val11fs, XP_047306135.1:p.Val11fs, XP_047306117.1:p.Val11fs, XP_047306122.1:p.Val11fs, XP_047306129.1:p.Val11fs, XP_047306136.1:p.Val11fs, XP_047306139.1:p.Val11fs, XP_047306140.1:p.Val11fs, XP_047306142.1:p.Val11fs, XP_047306146.1:p.Val11fs, XP_047306120.1:p.Val11fs, XP_047306125.1:p.Val11fs, XP_047306131.1:p.Val11fs, XP_047306137.1:p.Val11fs, XP_047306143.1:p.Val11fs, XP_047306147.1:p.Val11fs, XP_047306121.1:p.Val11fs, XP_047306132.1:p.Val11fs, XP_047306144.1:p.Val11fs

            6.

            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

              7.

              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

                8.

                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

                  9.

                  rs1475226620 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    4:41014379 (GRCh38)
                    4:41016396 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:41014378:G:A
                    Gene:
                    APBB2 (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000031/1 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000007/1 (GnomAD)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000004.12:g.41014379G>A, NC_000004.11:g.41016396G>A, NG_013337.1:g.205240C>T, NM_173075.5:c.39C>T, NM_173075.4:c.39C>T, NM_004307.2:c.39C>T, NM_004307.1:c.39C>T, NM_001166050.2:c.39C>T, NM_001166050.1:c.39C>T, NM_001330656.2:c.39C>T, NM_001330656.1:c.39C>T, NM_001330658.2:c.39C>T, NM_001330658.1:c.39C>T, XM_006714005.5:c.39C>T, XM_006714005.4:c.39C>T, XM_006714005.3:c.39C>T, XM_006714005.2:c.39C>T, XM_006714005.1:c.39C>T, XM_006714010.5:c.39C>T, XM_006714010.4:c.39C>T, XM_006714010.3:c.39C>T, XM_006714010.2:c.39C>T, XM_006714010.1:c.39C>T, XM_006714011.5:c.39C>T, XM_006714011.4:c.39C>T, XM_006714011.3:c.39C>T, XM_006714011.2:c.39C>T, XM_006714011.1:c.39C>T, XM_006714012.5:c.39C>T, XM_006714012.4:c.39C>T, XM_006714012.3:c.39C>T, XM_006714012.2:c.39C>T, XM_006714012.1:c.39C>T, XM_006714008.5:c.39C>T, XM_006714008.4:c.39C>T, XM_006714008.3:c.39C>T, XM_006714008.2:c.39C>T, XM_006714008.1:c.39C>T, XM_011513687.4:c.39C>T, XM_011513687.3:c.39C>T, XM_011513687.2:c.39C>T, XM_011513687.1:c.39C>T, XM_017008146.3:c.-13C>T, XM_017008146.2:c.-13C>T, XM_017008146.1:c.-13C>T, XM_017008144.3:c.39C>T, XM_017008144.2:c.39C>T, XM_017008144.1:c.39C>T, XM_017008145.3:c.39C>T, XM_017008145.2:c.39C>T, XM_017008145.1:c.39C>T, XM_017008151.3:c.39C>T, XM_017008151.2:c.39C>T, XM_017008151.1:c.39C>T, XM_017008152.3:c.39C>T, XM_017008152.2:c.39C>T, XM_017008152.1:c.39C>T, XM_017008154.3:c.39C>T, XM_017008154.2:c.39C>T, XM_017008154.1:c.39C>T, XM_017008148.3:c.-13C>T, XM_017008148.2:c.-13C>T, XM_017008148.1:c.-13C>T, XM_047450160.1:c.39C>T, XM_047450167.1:c.39C>T, XM_047450171.1:c.39C>T, XM_047450177.1:c.39C>T, XM_047450182.1:c.39C>T, XM_047450185.1:c.39C>T, XM_047450189.1:c.39C>T, XM_047450162.1:c.39C>T, XM_047450168.1:c.39C>T, XM_047450174.1:c.39C>T, XM_047450163.1:c.39C>T, XM_047450178.1:c.39C>T, XM_047450159.1:c.39C>T, XM_047450170.1:c.39C>T, XM_047450172.1:c.39C>T, XM_047450179.1:c.39C>T, XM_047450161.1:c.39C>T, XM_047450166.1:c.39C>T, XM_047450173.1:c.39C>T, XM_047450180.1:c.39C>T, XM_047450183.1:c.39C>T, XM_047450184.1:c.39C>T, XM_047450186.1:c.39C>T, XM_047450190.1:c.39C>T, XM_047450164.1:c.39C>T, XM_047450169.1:c.39C>T, XM_047450175.1:c.39C>T, XM_047450181.1:c.39C>T, XM_047450187.1:c.39C>T, XM_047450191.1:c.39C>T, XM_047450165.1:c.39C>T, XM_047450176.1:c.39C>T, XM_047450188.1:c.39C>T

                    10.

                    rs1474136588 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      4:41014090 (GRCh38)
                      4:41016107 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:41014089:C:A
                      Gene:
                      APBB2 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000004.12:g.41014090C>A, NC_000004.11:g.41016107C>A, NG_013337.1:g.205529G>T, NM_173075.5:c.328G>T, NM_173075.4:c.328G>T, NM_004307.2:c.328G>T, NM_004307.1:c.328G>T, NM_001166050.2:c.328G>T, NM_001166050.1:c.328G>T, NM_001330656.2:c.328G>T, NM_001330656.1:c.328G>T, NM_001330658.2:c.328G>T, NM_001330658.1:c.328G>T, XM_006714005.5:c.328G>T, XM_006714005.4:c.328G>T, XM_006714005.3:c.328G>T, XM_006714005.2:c.328G>T, XM_006714005.1:c.328G>T, XM_006714010.5:c.328G>T, XM_006714010.4:c.328G>T, XM_006714010.3:c.328G>T, XM_006714010.2:c.328G>T, XM_006714010.1:c.328G>T, XM_006714011.5:c.328G>T, XM_006714011.4:c.328G>T, XM_006714011.3:c.328G>T, XM_006714011.2:c.328G>T, XM_006714011.1:c.328G>T, XM_006714012.5:c.328G>T, XM_006714012.4:c.328G>T, XM_006714012.3:c.328G>T, XM_006714012.2:c.328G>T, XM_006714012.1:c.328G>T, XM_006714008.5:c.328G>T, XM_006714008.4:c.328G>T, XM_006714008.3:c.328G>T, XM_006714008.2:c.328G>T, XM_006714008.1:c.328G>T, XM_011513687.4:c.328G>T, XM_011513687.3:c.328G>T, XM_011513687.2:c.328G>T, XM_011513687.1:c.328G>T, XM_017008146.3:c.277G>T, XM_017008146.2:c.277G>T, XM_017008146.1:c.277G>T, XM_017008144.3:c.328G>T, XM_017008144.2:c.328G>T, XM_017008144.1:c.328G>T, XM_017008145.3:c.328G>T, XM_017008145.2:c.328G>T, XM_017008145.1:c.328G>T, XM_017008151.3:c.328G>T, XM_017008151.2:c.328G>T, XM_017008151.1:c.328G>T, XM_017008152.3:c.328G>T, XM_017008152.2:c.328G>T, XM_017008152.1:c.328G>T, XM_017008154.3:c.328G>T, XM_017008154.2:c.328G>T, XM_017008154.1:c.328G>T, XM_017008148.3:c.277G>T, XM_017008148.2:c.277G>T, XM_017008148.1:c.277G>T, XM_047450160.1:c.328G>T, XM_047450167.1:c.328G>T, XM_047450171.1:c.328G>T, XM_047450177.1:c.328G>T, XM_047450182.1:c.328G>T, XM_047450185.1:c.328G>T, XM_047450189.1:c.328G>T, XM_047450162.1:c.328G>T, XM_047450168.1:c.328G>T, XM_047450174.1:c.328G>T, XM_047450163.1:c.328G>T, XM_047450178.1:c.328G>T, XM_047450159.1:c.328G>T, XM_047450170.1:c.328G>T, XM_047450172.1:c.328G>T, XM_047450179.1:c.328G>T, XM_047450161.1:c.328G>T, XM_047450166.1:c.328G>T, XM_047450173.1:c.328G>T, XM_047450180.1:c.328G>T, XM_047450183.1:c.328G>T, XM_047450184.1:c.328G>T, XM_047450186.1:c.328G>T, XM_047450190.1:c.328G>T, XM_047450164.1:c.328G>T, XM_047450169.1:c.328G>T, XM_047450175.1:c.328G>T, XM_047450181.1:c.328G>T, XM_047450187.1:c.328G>T, XM_047450191.1:c.328G>T, XM_047450165.1:c.328G>T, XM_047450176.1:c.328G>T, XM_047450188.1:c.328G>T, NP_775098.2:p.Ala110Ser, NP_004298.1:p.Ala110Ser, NP_001159522.1:p.Ala110Ser, NP_001317585.1:p.Ala110Ser, NP_001317587.1:p.Ala110Ser, XP_006714068.1:p.Ala110Ser, XP_006714073.1:p.Ala110Ser, XP_006714074.1:p.Ala110Ser, XP_006714075.1:p.Ala110Ser, XP_006714071.1:p.Ala110Ser, XP_011511989.1:p.Ala110Ser, XP_016863635.1:p.Ala93Ser, XP_016863633.1:p.Ala110Ser, XP_016863634.1:p.Ala110Ser, XP_016863640.1:p.Ala110Ser, XP_016863641.1:p.Ala110Ser, XP_016863643.1:p.Ala110Ser, XP_016863637.1:p.Ala93Ser, XP_047306116.1:p.Ala110Ser, XP_047306123.1:p.Ala110Ser, XP_047306127.1:p.Ala110Ser, XP_047306133.1:p.Ala110Ser, XP_047306138.1:p.Ala110Ser, XP_047306141.1:p.Ala110Ser, XP_047306145.1:p.Ala110Ser, XP_047306118.1:p.Ala110Ser, XP_047306124.1:p.Ala110Ser, XP_047306130.1:p.Ala110Ser, XP_047306119.1:p.Ala110Ser, XP_047306134.1:p.Ala110Ser, XP_047306115.1:p.Ala110Ser, XP_047306126.1:p.Ala110Ser, XP_047306128.1:p.Ala110Ser, XP_047306135.1:p.Ala110Ser, XP_047306117.1:p.Ala110Ser, XP_047306122.1:p.Ala110Ser, XP_047306129.1:p.Ala110Ser, XP_047306136.1:p.Ala110Ser, XP_047306139.1:p.Ala110Ser, XP_047306140.1:p.Ala110Ser, XP_047306142.1:p.Ala110Ser, XP_047306146.1:p.Ala110Ser, XP_047306120.1:p.Ala110Ser, XP_047306125.1:p.Ala110Ser, XP_047306131.1:p.Ala110Ser, XP_047306137.1:p.Ala110Ser, XP_047306143.1:p.Ala110Ser, XP_047306147.1:p.Ala110Ser, XP_047306121.1:p.Ala110Ser, XP_047306132.1:p.Ala110Ser, XP_047306144.1:p.Ala110Ser

                      11.

                      rs1473681897 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        4:40934627 (GRCh38)
                        4:40936644 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:40934626:A:T
                        Gene:
                        APBB2 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0.000047/1 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000004.12:g.40934627A>T, NC_000004.11:g.40936644A>T, NG_013337.1:g.284992T>A, NM_173075.5:c.1114T>A, NM_173075.4:c.1114T>A, NM_004307.2:c.1180T>A, NM_004307.1:c.1180T>A, NM_001166050.2:c.1177T>A, NM_001166050.1:c.1177T>A, NM_001330656.2:c.1114T>A, NM_001330656.1:c.1114T>A, NM_001330658.2:c.1114T>A, NM_001330658.1:c.1114T>A, XM_006714005.5:c.1180T>A, XM_006714005.4:c.1180T>A, XM_006714005.3:c.1180T>A, XM_006714005.2:c.1180T>A, XM_006714005.1:c.1180T>A, XM_006714010.5:c.1177T>A, XM_006714010.4:c.1177T>A, XM_006714010.3:c.1177T>A, XM_006714010.2:c.1177T>A, XM_006714010.1:c.1177T>A, XM_006714011.5:c.1117T>A, XM_006714011.4:c.1117T>A, XM_006714011.3:c.1117T>A, XM_006714011.2:c.1117T>A, XM_006714011.1:c.1117T>A, XM_006714012.5:c.1114T>A, XM_006714012.4:c.1114T>A, XM_006714012.3:c.1114T>A, XM_006714012.2:c.1114T>A, XM_006714012.1:c.1114T>A, XM_006714008.5:c.1180T>A, XM_006714008.4:c.1180T>A, XM_006714008.3:c.1180T>A, XM_006714008.2:c.1180T>A, XM_006714008.1:c.1180T>A, XM_011513687.4:c.1117T>A, XM_011513687.3:c.1117T>A, XM_011513687.2:c.1117T>A, XM_011513687.1:c.1117T>A, XM_017008146.3:c.1129T>A, XM_017008146.2:c.1129T>A, XM_017008146.1:c.1129T>A, XM_017008144.3:c.1177T>A, XM_017008144.2:c.1177T>A, XM_017008144.1:c.1177T>A, XM_017008145.3:c.1180T>A, XM_017008145.2:c.1180T>A, XM_017008145.1:c.1180T>A, XM_017008151.3:c.1117T>A, XM_017008151.2:c.1117T>A, XM_017008151.1:c.1117T>A, XM_017008152.3:c.1114T>A, XM_017008152.2:c.1114T>A, XM_017008152.1:c.1114T>A, XM_017008154.3:c.1117T>A, XM_017008154.2:c.1117T>A, XM_017008154.1:c.1117T>A, XM_017008148.3:c.1129T>A, XM_017008148.2:c.1129T>A, XM_017008148.1:c.1129T>A, XM_047450160.1:c.1180T>A, XM_047450167.1:c.1177T>A, XM_047450171.1:c.1180T>A, XM_047450177.1:c.1177T>A, XM_047450182.1:c.1114T>A, XM_047450185.1:c.1117T>A, XM_047450189.1:c.1114T>A, XM_047450162.1:c.1180T>A, XM_047450168.1:c.1177T>A, XM_047450174.1:c.1180T>A, XM_047450163.1:c.1180T>A, XM_047450178.1:c.1177T>A, XM_047450159.1:c.1180T>A, XM_047450170.1:c.1177T>A, XM_047450172.1:c.1180T>A, XM_047450179.1:c.1177T>A, XM_047450161.1:c.1180T>A, XM_047450166.1:c.1177T>A, XM_047450173.1:c.1180T>A, XM_047450180.1:c.1177T>A, XM_047450183.1:c.1114T>A, XM_047450184.1:c.1114T>A, XM_047450186.1:c.1117T>A, XM_047450190.1:c.1114T>A, XM_047450164.1:c.1180T>A, XM_047450169.1:c.1177T>A, XM_047450175.1:c.1180T>A, XM_047450181.1:c.1177T>A, XM_047450187.1:c.1117T>A, XM_047450191.1:c.1114T>A, XM_047450165.1:c.1180T>A, XM_047450176.1:c.1180T>A, XM_047450188.1:c.1117T>A, NP_775098.2:p.Ser372Thr, NP_004298.1:p.Ser394Thr, NP_001159522.1:p.Ser393Thr, NP_001317585.1:p.Ser372Thr, NP_001317587.1:p.Ser372Thr, XP_006714068.1:p.Ser394Thr, XP_006714073.1:p.Ser393Thr, XP_006714074.1:p.Ser373Thr, XP_006714075.1:p.Ser372Thr, XP_006714071.1:p.Ser394Thr, XP_011511989.1:p.Ser373Thr, XP_016863635.1:p.Ser377Thr, XP_016863633.1:p.Ser393Thr, XP_016863634.1:p.Ser394Thr, XP_016863640.1:p.Ser373Thr, XP_016863641.1:p.Ser372Thr, XP_016863643.1:p.Ser373Thr, XP_016863637.1:p.Ser377Thr, XP_047306116.1:p.Ser394Thr, XP_047306123.1:p.Ser393Thr, XP_047306127.1:p.Ser394Thr, XP_047306133.1:p.Ser393Thr, XP_047306138.1:p.Ser372Thr, XP_047306141.1:p.Ser373Thr, XP_047306145.1:p.Ser372Thr, XP_047306118.1:p.Ser394Thr, XP_047306124.1:p.Ser393Thr, XP_047306130.1:p.Ser394Thr, XP_047306119.1:p.Ser394Thr, XP_047306134.1:p.Ser393Thr, XP_047306115.1:p.Ser394Thr, XP_047306126.1:p.Ser393Thr, XP_047306128.1:p.Ser394Thr, XP_047306135.1:p.Ser393Thr, XP_047306117.1:p.Ser394Thr, XP_047306122.1:p.Ser393Thr, XP_047306129.1:p.Ser394Thr, XP_047306136.1:p.Ser393Thr, XP_047306139.1:p.Ser372Thr, XP_047306140.1:p.Ser372Thr, XP_047306142.1:p.Ser373Thr, XP_047306146.1:p.Ser372Thr, XP_047306120.1:p.Ser394Thr, XP_047306125.1:p.Ser393Thr, XP_047306131.1:p.Ser394Thr, XP_047306137.1:p.Ser393Thr, XP_047306143.1:p.Ser373Thr, XP_047306147.1:p.Ser372Thr, XP_047306121.1:p.Ser394Thr, XP_047306132.1:p.Ser394Thr, XP_047306144.1:p.Ser373Thr

                        12.

                        rs1473571997 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          4:40890477 (GRCh38)
                          4:40892494 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:40890476:G:A
                          Gene:
                          APBB2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000004.12:g.40890477G>A, NC_000004.11:g.40892494G>A, NG_013337.1:g.329142C>T, NM_173075.5:c.1350C>T, NM_173075.4:c.1350C>T, NM_004307.2:c.1416C>T, NM_004307.1:c.1416C>T, NM_001166050.2:c.1413C>T, NM_001166050.1:c.1413C>T, NM_001330656.2:c.1350C>T, NM_001330656.1:c.1350C>T, NM_001330658.2:c.1350C>T, NM_001330658.1:c.1350C>T, XM_006714005.5:c.1416C>T, XM_006714005.4:c.1416C>T, XM_006714005.3:c.1416C>T, XM_006714005.2:c.1416C>T, XM_006714005.1:c.1416C>T, XM_006714010.5:c.1413C>T, XM_006714010.4:c.1413C>T, XM_006714010.3:c.1413C>T, XM_006714010.2:c.1413C>T, XM_006714010.1:c.1413C>T, XM_006714011.5:c.1353C>T, XM_006714011.4:c.1353C>T, XM_006714011.3:c.1353C>T, XM_006714011.2:c.1353C>T, XM_006714011.1:c.1353C>T, XM_006714012.5:c.1350C>T, XM_006714012.4:c.1350C>T, XM_006714012.3:c.1350C>T, XM_006714012.2:c.1350C>T, XM_006714012.1:c.1350C>T, XM_006714008.5:c.1416C>T, XM_006714008.4:c.1416C>T, XM_006714008.3:c.1416C>T, XM_006714008.2:c.1416C>T, XM_006714008.1:c.1416C>T, XM_011513687.4:c.1353C>T, XM_011513687.3:c.1353C>T, XM_011513687.2:c.1353C>T, XM_011513687.1:c.1353C>T, XM_017008146.3:c.1365C>T, XM_017008146.2:c.1365C>T, XM_017008146.1:c.1365C>T, XM_017008144.3:c.1413C>T, XM_017008144.2:c.1413C>T, XM_017008144.1:c.1413C>T, XM_017008145.3:c.1416C>T, XM_017008145.2:c.1416C>T, XM_017008145.1:c.1416C>T, XM_017008151.3:c.1353C>T, XM_017008151.2:c.1353C>T, XM_017008151.1:c.1353C>T, XM_017008152.3:c.1350C>T, XM_017008152.2:c.1350C>T, XM_017008152.1:c.1350C>T, XM_017008154.3:c.1353C>T, XM_017008154.2:c.1353C>T, XM_017008154.1:c.1353C>T, XM_017008148.3:c.1365C>T, XM_017008148.2:c.1365C>T, XM_017008148.1:c.1365C>T, XM_047450160.1:c.1416C>T, XM_047450167.1:c.1413C>T, XM_047450171.1:c.1416C>T, XM_047450177.1:c.1413C>T, XM_047450182.1:c.1350C>T, XM_047450185.1:c.1353C>T, XM_047450189.1:c.1350C>T, XM_047450162.1:c.1416C>T, XM_047450168.1:c.1413C>T, XM_047450174.1:c.1416C>T, XM_047450163.1:c.1416C>T, XM_047450178.1:c.1413C>T, XM_047450159.1:c.1416C>T, XM_047450170.1:c.1413C>T, XM_047450172.1:c.1416C>T, XM_047450179.1:c.1413C>T, XM_047450161.1:c.1416C>T, XM_047450166.1:c.1413C>T, XM_047450173.1:c.1416C>T, XM_047450180.1:c.1413C>T, XM_047450183.1:c.1350C>T, XM_047450184.1:c.1350C>T, XM_047450186.1:c.1353C>T, XM_047450190.1:c.1350C>T, XM_047450164.1:c.1416C>T, XM_047450169.1:c.1413C>T, XM_047450175.1:c.1416C>T, XM_047450181.1:c.1413C>T, XM_047450187.1:c.1353C>T, XM_047450191.1:c.1350C>T, XM_047450165.1:c.1416C>T, XM_047450176.1:c.1416C>T, XM_047450188.1:c.1353C>T

                          13.

                          rs1473309856 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            4:40830559 (GRCh38)
                            4:40832576 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:40830558:T:C
                            Gene:
                            APBB2 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000004.12:g.40830559T>C, NC_000004.11:g.40832576T>C, NG_013337.1:g.389060A>G, NM_173075.5:c.1482A>G, NM_173075.4:c.1482A>G, NM_004307.2:c.1548A>G, NM_004307.1:c.1548A>G, NM_001166050.2:c.1545A>G, NM_001166050.1:c.1545A>G, NM_001330656.2:c.1482A>G, NM_001330656.1:c.1482A>G, NM_001330658.2:c.1482A>G, NM_001330658.1:c.1482A>G, NM_001166051.2:c.-100A>G, NM_001166051.1:c.-100A>G, NM_001166052.2:c.-100A>G, NM_001166052.1:c.-100A>G, NM_001166053.1:c.-100A>G, NM_001166054.1:c.-100A>G, XM_006714005.5:c.1554A>G, XM_006714005.4:c.1554A>G, XM_006714005.3:c.1554A>G, XM_006714005.2:c.1554A>G, XM_006714005.1:c.1554A>G, XM_006714010.5:c.1551A>G, XM_006714010.4:c.1551A>G, XM_006714010.3:c.1551A>G, XM_006714010.2:c.1551A>G, XM_006714010.1:c.1551A>G, XM_006714011.5:c.1491A>G, XM_006714011.4:c.1491A>G, XM_006714011.3:c.1491A>G, XM_006714011.2:c.1491A>G, XM_006714011.1:c.1491A>G, XM_006714012.5:c.1488A>G, XM_006714012.4:c.1488A>G, XM_006714012.3:c.1488A>G, XM_006714012.2:c.1488A>G, XM_006714012.1:c.1488A>G, XM_006714008.5:c.1554A>G, XM_006714008.4:c.1554A>G, XM_006714008.3:c.1554A>G, XM_006714008.2:c.1554A>G, XM_006714008.1:c.1554A>G, XM_011513687.4:c.1485A>G, XM_011513687.3:c.1485A>G, XM_011513687.2:c.1485A>G, XM_011513687.1:c.1485A>G, XM_017008146.3:c.1503A>G, XM_017008146.2:c.1503A>G, XM_017008146.1:c.1503A>G, XM_017008144.3:c.1551A>G, XM_017008144.2:c.1551A>G, XM_017008144.1:c.1551A>G, XM_017008145.3:c.1548A>G, XM_017008145.2:c.1548A>G, XM_017008145.1:c.1548A>G, XM_017008151.3:c.1491A>G, XM_017008151.2:c.1491A>G, XM_017008151.1:c.1491A>G, XM_017008152.3:c.1488A>G, XM_017008152.2:c.1488A>G, XM_017008152.1:c.1488A>G, XM_017008154.3:c.1485A>G, XM_017008154.2:c.1485A>G, XM_017008154.1:c.1485A>G, XM_017008148.3:c.1503A>G, XM_017008148.2:c.1503A>G, XM_017008148.1:c.1503A>G, XM_047450160.1:c.1554A>G, XM_047450167.1:c.1551A>G, XM_047450171.1:c.1548A>G, XM_047450177.1:c.1545A>G, XM_047450182.1:c.1488A>G, XM_047450185.1:c.1485A>G, XM_047450189.1:c.1482A>G, XM_047450162.1:c.1554A>G, XM_047450168.1:c.1551A>G, XM_047450174.1:c.1548A>G, XM_047450163.1:c.1554A>G, XM_047450178.1:c.1545A>G, XM_047450159.1:c.1554A>G, XM_047450170.1:c.1551A>G, XM_047450172.1:c.1548A>G, XM_047450179.1:c.1545A>G, XM_047450161.1:c.1554A>G, XM_047450166.1:c.1551A>G, XM_047450173.1:c.1548A>G, XM_047450180.1:c.1545A>G, XM_047450183.1:c.1488A>G, XM_047450184.1:c.1488A>G, XM_047450186.1:c.1485A>G, XM_047450190.1:c.1482A>G, XM_047450164.1:c.1554A>G, XM_047450169.1:c.1551A>G, XM_047450175.1:c.1548A>G, XM_047450181.1:c.1545A>G, XM_047450187.1:c.1485A>G, XM_047450191.1:c.1482A>G, XM_047450165.1:c.1554A>G, XM_047450176.1:c.1548A>G, XM_047450188.1:c.1485A>G

                            14.

                            rs1472049414 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              4:40893289 (GRCh38)
                              4:40895306 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:40893288:T:A
                              Gene:
                              APBB2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000004.12:g.40893289T>A, NC_000004.11:g.40895306T>A, NG_013337.1:g.326330A>T, NM_173075.5:c.1311A>T, NM_173075.4:c.1311A>T, NM_004307.2:c.1377A>T, NM_004307.1:c.1377A>T, NM_001166050.2:c.1374A>T, NM_001166050.1:c.1374A>T, NM_001330656.2:c.1311A>T, NM_001330656.1:c.1311A>T, NM_001330658.2:c.1311A>T, NM_001330658.1:c.1311A>T, XM_006714005.5:c.1377A>T, XM_006714005.4:c.1377A>T, XM_006714005.3:c.1377A>T, XM_006714005.2:c.1377A>T, XM_006714005.1:c.1377A>T, XM_006714010.5:c.1374A>T, XM_006714010.4:c.1374A>T, XM_006714010.3:c.1374A>T, XM_006714010.2:c.1374A>T, XM_006714010.1:c.1374A>T, XM_006714011.5:c.1314A>T, XM_006714011.4:c.1314A>T, XM_006714011.3:c.1314A>T, XM_006714011.2:c.1314A>T, XM_006714011.1:c.1314A>T, XM_006714012.5:c.1311A>T, XM_006714012.4:c.1311A>T, XM_006714012.3:c.1311A>T, XM_006714012.2:c.1311A>T, XM_006714012.1:c.1311A>T, XM_006714008.5:c.1377A>T, XM_006714008.4:c.1377A>T, XM_006714008.3:c.1377A>T, XM_006714008.2:c.1377A>T, XM_006714008.1:c.1377A>T, XM_011513687.4:c.1314A>T, XM_011513687.3:c.1314A>T, XM_011513687.2:c.1314A>T, XM_011513687.1:c.1314A>T, XM_017008146.3:c.1326A>T, XM_017008146.2:c.1326A>T, XM_017008146.1:c.1326A>T, XM_017008144.3:c.1374A>T, XM_017008144.2:c.1374A>T, XM_017008144.1:c.1374A>T, XM_017008145.3:c.1377A>T, XM_017008145.2:c.1377A>T, XM_017008145.1:c.1377A>T, XM_017008151.3:c.1314A>T, XM_017008151.2:c.1314A>T, XM_017008151.1:c.1314A>T, XM_017008152.3:c.1311A>T, XM_017008152.2:c.1311A>T, XM_017008152.1:c.1311A>T, XM_017008154.3:c.1314A>T, XM_017008154.2:c.1314A>T, XM_017008154.1:c.1314A>T, XM_017008148.3:c.1326A>T, XM_017008148.2:c.1326A>T, XM_017008148.1:c.1326A>T, XM_047450160.1:c.1377A>T, XM_047450167.1:c.1374A>T, XM_047450171.1:c.1377A>T, XM_047450177.1:c.1374A>T, XM_047450182.1:c.1311A>T, XM_047450185.1:c.1314A>T, XM_047450189.1:c.1311A>T, XM_047450162.1:c.1377A>T, XM_047450168.1:c.1374A>T, XM_047450174.1:c.1377A>T, XM_047450163.1:c.1377A>T, XM_047450178.1:c.1374A>T, XM_047450159.1:c.1377A>T, XM_047450170.1:c.1374A>T, XM_047450172.1:c.1377A>T, XM_047450179.1:c.1374A>T, XM_047450161.1:c.1377A>T, XM_047450166.1:c.1374A>T, XM_047450173.1:c.1377A>T, XM_047450180.1:c.1374A>T, XM_047450183.1:c.1311A>T, XM_047450184.1:c.1311A>T, XM_047450186.1:c.1314A>T, XM_047450190.1:c.1311A>T, XM_047450164.1:c.1377A>T, XM_047450169.1:c.1374A>T, XM_047450175.1:c.1377A>T, XM_047450181.1:c.1374A>T, XM_047450187.1:c.1314A>T, XM_047450191.1:c.1311A>T, XM_047450165.1:c.1377A>T, XM_047450176.1:c.1377A>T, XM_047450188.1:c.1314A>T

                              15.

                              rs1461517703 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                4:40934620 (GRCh38)
                                4:40936637 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:40934619:T:G
                                Gene:
                                APBB2 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000004.12:g.40934620T>G, NC_000004.11:g.40936637T>G, NG_013337.1:g.284999A>C, NM_173075.5:c.1121A>C, NM_173075.4:c.1121A>C, NM_004307.2:c.1187A>C, NM_004307.1:c.1187A>C, NM_001166050.2:c.1184A>C, NM_001166050.1:c.1184A>C, NM_001330656.2:c.1121A>C, NM_001330656.1:c.1121A>C, NM_001330658.2:c.1121A>C, NM_001330658.1:c.1121A>C, XM_006714005.5:c.1187A>C, XM_006714005.4:c.1187A>C, XM_006714005.3:c.1187A>C, XM_006714005.2:c.1187A>C, XM_006714005.1:c.1187A>C, XM_006714010.5:c.1184A>C, XM_006714010.4:c.1184A>C, XM_006714010.3:c.1184A>C, XM_006714010.2:c.1184A>C, XM_006714010.1:c.1184A>C, XM_006714011.5:c.1124A>C, XM_006714011.4:c.1124A>C, XM_006714011.3:c.1124A>C, XM_006714011.2:c.1124A>C, XM_006714011.1:c.1124A>C, XM_006714012.5:c.1121A>C, XM_006714012.4:c.1121A>C, XM_006714012.3:c.1121A>C, XM_006714012.2:c.1121A>C, XM_006714012.1:c.1121A>C, XM_006714008.5:c.1187A>C, XM_006714008.4:c.1187A>C, XM_006714008.3:c.1187A>C, XM_006714008.2:c.1187A>C, XM_006714008.1:c.1187A>C, XM_011513687.4:c.1124A>C, XM_011513687.3:c.1124A>C, XM_011513687.2:c.1124A>C, XM_011513687.1:c.1124A>C, XM_017008146.3:c.1136A>C, XM_017008146.2:c.1136A>C, XM_017008146.1:c.1136A>C, XM_017008144.3:c.1184A>C, XM_017008144.2:c.1184A>C, XM_017008144.1:c.1184A>C, XM_017008145.3:c.1187A>C, XM_017008145.2:c.1187A>C, XM_017008145.1:c.1187A>C, XM_017008151.3:c.1124A>C, XM_017008151.2:c.1124A>C, XM_017008151.1:c.1124A>C, XM_017008152.3:c.1121A>C, XM_017008152.2:c.1121A>C, XM_017008152.1:c.1121A>C, XM_017008154.3:c.1124A>C, XM_017008154.2:c.1124A>C, XM_017008154.1:c.1124A>C, XM_017008148.3:c.1136A>C, XM_017008148.2:c.1136A>C, XM_017008148.1:c.1136A>C, XM_047450160.1:c.1187A>C, XM_047450167.1:c.1184A>C, XM_047450171.1:c.1187A>C, XM_047450177.1:c.1184A>C, XM_047450182.1:c.1121A>C, XM_047450185.1:c.1124A>C, XM_047450189.1:c.1121A>C, XM_047450162.1:c.1187A>C, XM_047450168.1:c.1184A>C, XM_047450174.1:c.1187A>C, XM_047450163.1:c.1187A>C, XM_047450178.1:c.1184A>C, XM_047450159.1:c.1187A>C, XM_047450170.1:c.1184A>C, XM_047450172.1:c.1187A>C, XM_047450179.1:c.1184A>C, XM_047450161.1:c.1187A>C, XM_047450166.1:c.1184A>C, XM_047450173.1:c.1187A>C, XM_047450180.1:c.1184A>C, XM_047450183.1:c.1121A>C, XM_047450184.1:c.1121A>C, XM_047450186.1:c.1124A>C, XM_047450190.1:c.1121A>C, XM_047450164.1:c.1187A>C, XM_047450169.1:c.1184A>C, XM_047450175.1:c.1187A>C, XM_047450181.1:c.1184A>C, XM_047450187.1:c.1124A>C, XM_047450191.1:c.1121A>C, XM_047450165.1:c.1187A>C, XM_047450176.1:c.1187A>C, XM_047450188.1:c.1124A>C, NP_775098.2:p.Lys374Thr, NP_004298.1:p.Lys396Thr, NP_001159522.1:p.Lys395Thr, NP_001317585.1:p.Lys374Thr, NP_001317587.1:p.Lys374Thr, XP_006714068.1:p.Lys396Thr, XP_006714073.1:p.Lys395Thr, XP_006714074.1:p.Lys375Thr, XP_006714075.1:p.Lys374Thr, XP_006714071.1:p.Lys396Thr, XP_011511989.1:p.Lys375Thr, XP_016863635.1:p.Lys379Thr, XP_016863633.1:p.Lys395Thr, XP_016863634.1:p.Lys396Thr, XP_016863640.1:p.Lys375Thr, XP_016863641.1:p.Lys374Thr, XP_016863643.1:p.Lys375Thr, XP_016863637.1:p.Lys379Thr, XP_047306116.1:p.Lys396Thr, XP_047306123.1:p.Lys395Thr, XP_047306127.1:p.Lys396Thr, XP_047306133.1:p.Lys395Thr, XP_047306138.1:p.Lys374Thr, XP_047306141.1:p.Lys375Thr, XP_047306145.1:p.Lys374Thr, XP_047306118.1:p.Lys396Thr, XP_047306124.1:p.Lys395Thr, XP_047306130.1:p.Lys396Thr, XP_047306119.1:p.Lys396Thr, XP_047306134.1:p.Lys395Thr, XP_047306115.1:p.Lys396Thr, XP_047306126.1:p.Lys395Thr, XP_047306128.1:p.Lys396Thr, XP_047306135.1:p.Lys395Thr, XP_047306117.1:p.Lys396Thr, XP_047306122.1:p.Lys395Thr, XP_047306129.1:p.Lys396Thr, XP_047306136.1:p.Lys395Thr, XP_047306139.1:p.Lys374Thr, XP_047306140.1:p.Lys374Thr, XP_047306142.1:p.Lys375Thr, XP_047306146.1:p.Lys374Thr, XP_047306120.1:p.Lys396Thr, XP_047306125.1:p.Lys395Thr, XP_047306131.1:p.Lys396Thr, XP_047306137.1:p.Lys395Thr, XP_047306143.1:p.Lys375Thr, XP_047306147.1:p.Lys374Thr, XP_047306121.1:p.Lys396Thr, XP_047306132.1:p.Lys396Thr, XP_047306144.1:p.Lys375Thr

                                16.

                                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

                                  17.

                                  rs1458648384 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    4:40890409 (GRCh38)
                                    4:40892426 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:40890408:G:C
                                    Gene:
                                    APBB2 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000004.12:g.40890409G>C, NC_000004.11:g.40892426G>C, NG_013337.1:g.329210C>G, NM_173075.5:c.1418C>G, NM_173075.4:c.1418C>G, NM_004307.2:c.1484C>G, NM_004307.1:c.1484C>G, NM_001166050.2:c.1481C>G, NM_001166050.1:c.1481C>G, NM_001330656.2:c.1418C>G, NM_001330656.1:c.1418C>G, NM_001330658.2:c.1418C>G, NM_001330658.1:c.1418C>G, XM_006714005.5:c.1484C>G, XM_006714005.4:c.1484C>G, XM_006714005.3:c.1484C>G, XM_006714005.2:c.1484C>G, XM_006714005.1:c.1484C>G, XM_006714010.5:c.1481C>G, XM_006714010.4:c.1481C>G, XM_006714010.3:c.1481C>G, XM_006714010.2:c.1481C>G, XM_006714010.1:c.1481C>G, XM_006714011.5:c.1421C>G, XM_006714011.4:c.1421C>G, XM_006714011.3:c.1421C>G, XM_006714011.2:c.1421C>G, XM_006714011.1:c.1421C>G, XM_006714012.5:c.1418C>G, XM_006714012.4:c.1418C>G, XM_006714012.3:c.1418C>G, XM_006714012.2:c.1418C>G, XM_006714012.1:c.1418C>G, XM_006714008.5:c.1484C>G, XM_006714008.4:c.1484C>G, XM_006714008.3:c.1484C>G, XM_006714008.2:c.1484C>G, XM_006714008.1:c.1484C>G, XM_011513687.4:c.1421C>G, XM_011513687.3:c.1421C>G, XM_011513687.2:c.1421C>G, XM_011513687.1:c.1421C>G, XM_017008146.3:c.1433C>G, XM_017008146.2:c.1433C>G, XM_017008146.1:c.1433C>G, XM_017008144.3:c.1481C>G, XM_017008144.2:c.1481C>G, XM_017008144.1:c.1481C>G, XM_017008145.3:c.1484C>G, XM_017008145.2:c.1484C>G, XM_017008145.1:c.1484C>G, XM_017008151.3:c.1421C>G, XM_017008151.2:c.1421C>G, XM_017008151.1:c.1421C>G, XM_017008152.3:c.1418C>G, XM_017008152.2:c.1418C>G, XM_017008152.1:c.1418C>G, XM_017008154.3:c.1421C>G, XM_017008154.2:c.1421C>G, XM_017008154.1:c.1421C>G, XM_017008148.3:c.1433C>G, XM_017008148.2:c.1433C>G, XM_017008148.1:c.1433C>G, XM_047450160.1:c.1484C>G, XM_047450167.1:c.1481C>G, XM_047450171.1:c.1484C>G, XM_047450177.1:c.1481C>G, XM_047450182.1:c.1418C>G, XM_047450185.1:c.1421C>G, XM_047450189.1:c.1418C>G, XM_047450162.1:c.1484C>G, XM_047450168.1:c.1481C>G, XM_047450174.1:c.1484C>G, XM_047450163.1:c.1484C>G, XM_047450178.1:c.1481C>G, XM_047450159.1:c.1484C>G, XM_047450170.1:c.1481C>G, XM_047450172.1:c.1484C>G, XM_047450179.1:c.1481C>G, XM_047450161.1:c.1484C>G, XM_047450166.1:c.1481C>G, XM_047450173.1:c.1484C>G, XM_047450180.1:c.1481C>G, XM_047450183.1:c.1418C>G, XM_047450184.1:c.1418C>G, XM_047450186.1:c.1421C>G, XM_047450190.1:c.1418C>G, XM_047450164.1:c.1484C>G, XM_047450169.1:c.1481C>G, XM_047450175.1:c.1484C>G, XM_047450181.1:c.1481C>G, XM_047450187.1:c.1421C>G, XM_047450191.1:c.1418C>G, XM_047450165.1:c.1484C>G, XM_047450176.1:c.1484C>G, XM_047450188.1:c.1421C>G, NP_775098.2:p.Pro473Arg, NP_004298.1:p.Pro495Arg, NP_001159522.1:p.Pro494Arg, NP_001317585.1:p.Pro473Arg, NP_001317587.1:p.Pro473Arg, XP_006714068.1:p.Pro495Arg, XP_006714073.1:p.Pro494Arg, XP_006714074.1:p.Pro474Arg, XP_006714075.1:p.Pro473Arg, XP_006714071.1:p.Pro495Arg, XP_011511989.1:p.Pro474Arg, XP_016863635.1:p.Pro478Arg, XP_016863633.1:p.Pro494Arg, XP_016863634.1:p.Pro495Arg, XP_016863640.1:p.Pro474Arg, XP_016863641.1:p.Pro473Arg, XP_016863643.1:p.Pro474Arg, XP_016863637.1:p.Pro478Arg, XP_047306116.1:p.Pro495Arg, XP_047306123.1:p.Pro494Arg, XP_047306127.1:p.Pro495Arg, XP_047306133.1:p.Pro494Arg, XP_047306138.1:p.Pro473Arg, XP_047306141.1:p.Pro474Arg, XP_047306145.1:p.Pro473Arg, XP_047306118.1:p.Pro495Arg, XP_047306124.1:p.Pro494Arg, XP_047306130.1:p.Pro495Arg, XP_047306119.1:p.Pro495Arg, XP_047306134.1:p.Pro494Arg, XP_047306115.1:p.Pro495Arg, XP_047306126.1:p.Pro494Arg, XP_047306128.1:p.Pro495Arg, XP_047306135.1:p.Pro494Arg, XP_047306117.1:p.Pro495Arg, XP_047306122.1:p.Pro494Arg, XP_047306129.1:p.Pro495Arg, XP_047306136.1:p.Pro494Arg, XP_047306139.1:p.Pro473Arg, XP_047306140.1:p.Pro473Arg, XP_047306142.1:p.Pro474Arg, XP_047306146.1:p.Pro473Arg, XP_047306120.1:p.Pro495Arg, XP_047306125.1:p.Pro494Arg, XP_047306131.1:p.Pro495Arg, XP_047306137.1:p.Pro494Arg, XP_047306143.1:p.Pro474Arg, XP_047306147.1:p.Pro473Arg, XP_047306121.1:p.Pro495Arg, XP_047306132.1:p.Pro495Arg, XP_047306144.1:p.Pro474Arg

                                    18.

                                    rs1456036963 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      4:40890469 (GRCh38)
                                      4:40892486 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:40890468:A:T
                                      Gene:
                                      APBB2 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000004.12:g.40890469A>T, NC_000004.11:g.40892486A>T, NG_013337.1:g.329150T>A, NM_173075.5:c.1358T>A, NM_173075.4:c.1358T>A, NM_004307.2:c.1424T>A, NM_004307.1:c.1424T>A, NM_001166050.2:c.1421T>A, NM_001166050.1:c.1421T>A, NM_001330656.2:c.1358T>A, NM_001330656.1:c.1358T>A, NM_001330658.2:c.1358T>A, NM_001330658.1:c.1358T>A, XM_006714005.5:c.1424T>A, XM_006714005.4:c.1424T>A, XM_006714005.3:c.1424T>A, XM_006714005.2:c.1424T>A, XM_006714005.1:c.1424T>A, XM_006714010.5:c.1421T>A, XM_006714010.4:c.1421T>A, XM_006714010.3:c.1421T>A, XM_006714010.2:c.1421T>A, XM_006714010.1:c.1421T>A, XM_006714011.5:c.1361T>A, XM_006714011.4:c.1361T>A, XM_006714011.3:c.1361T>A, XM_006714011.2:c.1361T>A, XM_006714011.1:c.1361T>A, XM_006714012.5:c.1358T>A, XM_006714012.4:c.1358T>A, XM_006714012.3:c.1358T>A, XM_006714012.2:c.1358T>A, XM_006714012.1:c.1358T>A, XM_006714008.5:c.1424T>A, XM_006714008.4:c.1424T>A, XM_006714008.3:c.1424T>A, XM_006714008.2:c.1424T>A, XM_006714008.1:c.1424T>A, XM_011513687.4:c.1361T>A, XM_011513687.3:c.1361T>A, XM_011513687.2:c.1361T>A, XM_011513687.1:c.1361T>A, XM_017008146.3:c.1373T>A, XM_017008146.2:c.1373T>A, XM_017008146.1:c.1373T>A, XM_017008144.3:c.1421T>A, XM_017008144.2:c.1421T>A, XM_017008144.1:c.1421T>A, XM_017008145.3:c.1424T>A, XM_017008145.2:c.1424T>A, XM_017008145.1:c.1424T>A, XM_017008151.3:c.1361T>A, XM_017008151.2:c.1361T>A, XM_017008151.1:c.1361T>A, XM_017008152.3:c.1358T>A, XM_017008152.2:c.1358T>A, XM_017008152.1:c.1358T>A, XM_017008154.3:c.1361T>A, XM_017008154.2:c.1361T>A, XM_017008154.1:c.1361T>A, XM_017008148.3:c.1373T>A, XM_017008148.2:c.1373T>A, XM_017008148.1:c.1373T>A, XM_047450160.1:c.1424T>A, XM_047450167.1:c.1421T>A, XM_047450171.1:c.1424T>A, XM_047450177.1:c.1421T>A, XM_047450182.1:c.1358T>A, XM_047450185.1:c.1361T>A, XM_047450189.1:c.1358T>A, XM_047450162.1:c.1424T>A, XM_047450168.1:c.1421T>A, XM_047450174.1:c.1424T>A, XM_047450163.1:c.1424T>A, XM_047450178.1:c.1421T>A, XM_047450159.1:c.1424T>A, XM_047450170.1:c.1421T>A, XM_047450172.1:c.1424T>A, XM_047450179.1:c.1421T>A, XM_047450161.1:c.1424T>A, XM_047450166.1:c.1421T>A, XM_047450173.1:c.1424T>A, XM_047450180.1:c.1421T>A, XM_047450183.1:c.1358T>A, XM_047450184.1:c.1358T>A, XM_047450186.1:c.1361T>A, XM_047450190.1:c.1358T>A, XM_047450164.1:c.1424T>A, XM_047450169.1:c.1421T>A, XM_047450175.1:c.1424T>A, XM_047450181.1:c.1421T>A, XM_047450187.1:c.1361T>A, XM_047450191.1:c.1358T>A, XM_047450165.1:c.1424T>A, XM_047450176.1:c.1424T>A, XM_047450188.1:c.1361T>A, NP_775098.2:p.Leu453Gln, NP_004298.1:p.Leu475Gln, NP_001159522.1:p.Leu474Gln, NP_001317585.1:p.Leu453Gln, NP_001317587.1:p.Leu453Gln, XP_006714068.1:p.Leu475Gln, XP_006714073.1:p.Leu474Gln, XP_006714074.1:p.Leu454Gln, XP_006714075.1:p.Leu453Gln, XP_006714071.1:p.Leu475Gln, XP_011511989.1:p.Leu454Gln, XP_016863635.1:p.Leu458Gln, XP_016863633.1:p.Leu474Gln, XP_016863634.1:p.Leu475Gln, XP_016863640.1:p.Leu454Gln, XP_016863641.1:p.Leu453Gln, XP_016863643.1:p.Leu454Gln, XP_016863637.1:p.Leu458Gln, XP_047306116.1:p.Leu475Gln, XP_047306123.1:p.Leu474Gln, XP_047306127.1:p.Leu475Gln, XP_047306133.1:p.Leu474Gln, XP_047306138.1:p.Leu453Gln, XP_047306141.1:p.Leu454Gln, XP_047306145.1:p.Leu453Gln, XP_047306118.1:p.Leu475Gln, XP_047306124.1:p.Leu474Gln, XP_047306130.1:p.Leu475Gln, XP_047306119.1:p.Leu475Gln, XP_047306134.1:p.Leu474Gln, XP_047306115.1:p.Leu475Gln, XP_047306126.1:p.Leu474Gln, XP_047306128.1:p.Leu475Gln, XP_047306135.1:p.Leu474Gln, XP_047306117.1:p.Leu475Gln, XP_047306122.1:p.Leu474Gln, XP_047306129.1:p.Leu475Gln, XP_047306136.1:p.Leu474Gln, XP_047306139.1:p.Leu453Gln, XP_047306140.1:p.Leu453Gln, XP_047306142.1:p.Leu454Gln, XP_047306146.1:p.Leu453Gln, XP_047306120.1:p.Leu475Gln, XP_047306125.1:p.Leu474Gln, XP_047306131.1:p.Leu475Gln, XP_047306137.1:p.Leu474Gln, XP_047306143.1:p.Leu454Gln, XP_047306147.1:p.Leu453Gln, XP_047306121.1:p.Leu475Gln, XP_047306132.1:p.Leu475Gln, XP_047306144.1:p.Leu454Gln

                                      19.

                                      rs1455856036 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        4:40944873 (GRCh38)
                                        4:40946890 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:40944872:C:T
                                        Gene:
                                        APBB2 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:
                                        NC_000004.12:g.40944873C>T, NC_000004.11:g.40946890C>T, NG_013337.1:g.274746G>A, NM_173075.5:c.1033G>A, NM_173075.4:c.1033G>A, NM_004307.2:c.1036G>A, NM_004307.1:c.1036G>A, NM_001166050.2:c.1033G>A, NM_001166050.1:c.1033G>A, NM_001330656.2:c.1033G>A, NM_001330656.1:c.1033G>A, NM_001330658.2:c.1033G>A, NM_001330658.1:c.1033G>A, XM_006714005.5:c.1036G>A, XM_006714005.4:c.1036G>A, XM_006714005.3:c.1036G>A, XM_006714005.2:c.1036G>A, XM_006714005.1:c.1036G>A, XM_006714010.5:c.1033G>A, XM_006714010.4:c.1033G>A, XM_006714010.3:c.1033G>A, XM_006714010.2:c.1033G>A, XM_006714010.1:c.1033G>A, XM_006714011.5:c.1036G>A, XM_006714011.4:c.1036G>A, XM_006714011.3:c.1036G>A, XM_006714011.2:c.1036G>A, XM_006714011.1:c.1036G>A, XM_006714012.5:c.1033G>A, XM_006714012.4:c.1033G>A, XM_006714012.3:c.1033G>A, XM_006714012.2:c.1033G>A, XM_006714012.1:c.1033G>A, XM_006714008.5:c.1036G>A, XM_006714008.4:c.1036G>A, XM_006714008.3:c.1036G>A, XM_006714008.2:c.1036G>A, XM_006714008.1:c.1036G>A, XM_011513687.4:c.1036G>A, XM_011513687.3:c.1036G>A, XM_011513687.2:c.1036G>A, XM_011513687.1:c.1036G>A, XM_017008146.3:c.985G>A, XM_017008146.2:c.985G>A, XM_017008146.1:c.985G>A, XM_017008144.3:c.1033G>A, XM_017008144.2:c.1033G>A, XM_017008144.1:c.1033G>A, XM_017008145.3:c.1036G>A, XM_017008145.2:c.1036G>A, XM_017008145.1:c.1036G>A, XM_017008151.3:c.1036G>A, XM_017008151.2:c.1036G>A, XM_017008151.1:c.1036G>A, XM_017008152.3:c.1033G>A, XM_017008152.2:c.1033G>A, XM_017008152.1:c.1033G>A, XM_017008154.3:c.1036G>A, XM_017008154.2:c.1036G>A, XM_017008154.1:c.1036G>A, XM_017008148.3:c.985G>A, XM_017008148.2:c.985G>A, XM_017008148.1:c.985G>A, XM_047450160.1:c.1036G>A, XM_047450167.1:c.1033G>A, XM_047450171.1:c.1036G>A, XM_047450177.1:c.1033G>A, XM_047450182.1:c.1033G>A, XM_047450185.1:c.1036G>A, XM_047450189.1:c.1033G>A, XM_047450162.1:c.1036G>A, XM_047450168.1:c.1033G>A, XM_047450174.1:c.1036G>A, XM_047450163.1:c.1036G>A, XM_047450178.1:c.1033G>A, XM_047450159.1:c.1036G>A, XM_047450170.1:c.1033G>A, XM_047450172.1:c.1036G>A, XM_047450179.1:c.1033G>A, XM_047450161.1:c.1036G>A, XM_047450166.1:c.1033G>A, XM_047450173.1:c.1036G>A, XM_047450180.1:c.1033G>A, XM_047450183.1:c.1033G>A, XM_047450184.1:c.1033G>A, XM_047450186.1:c.1036G>A, XM_047450190.1:c.1033G>A, XM_047450164.1:c.1036G>A, XM_047450169.1:c.1033G>A, XM_047450175.1:c.1036G>A, XM_047450181.1:c.1033G>A, XM_047450187.1:c.1036G>A, XM_047450191.1:c.1033G>A, XM_047450165.1:c.1036G>A, XM_047450176.1:c.1036G>A, XM_047450188.1:c.1036G>A, NP_775098.2:p.Glu345Lys, NP_004298.1:p.Glu346Lys, NP_001159522.1:p.Glu345Lys, NP_001317585.1:p.Glu345Lys, NP_001317587.1:p.Glu345Lys, XP_006714068.1:p.Glu346Lys, XP_006714073.1:p.Glu345Lys, XP_006714074.1:p.Glu346Lys, XP_006714075.1:p.Glu345Lys, XP_006714071.1:p.Glu346Lys, XP_011511989.1:p.Glu346Lys, XP_016863635.1:p.Glu329Lys, XP_016863633.1:p.Glu345Lys, XP_016863634.1:p.Glu346Lys, XP_016863640.1:p.Glu346Lys, XP_016863641.1:p.Glu345Lys, XP_016863643.1:p.Glu346Lys, XP_016863637.1:p.Glu329Lys, XP_047306116.1:p.Glu346Lys, XP_047306123.1:p.Glu345Lys, XP_047306127.1:p.Glu346Lys, XP_047306133.1:p.Glu345Lys, XP_047306138.1:p.Glu345Lys, XP_047306141.1:p.Glu346Lys, XP_047306145.1:p.Glu345Lys, XP_047306118.1:p.Glu346Lys, XP_047306124.1:p.Glu345Lys, XP_047306130.1:p.Glu346Lys, XP_047306119.1:p.Glu346Lys, XP_047306134.1:p.Glu345Lys, XP_047306115.1:p.Glu346Lys, XP_047306126.1:p.Glu345Lys, XP_047306128.1:p.Glu346Lys, XP_047306135.1:p.Glu345Lys, XP_047306117.1:p.Glu346Lys, XP_047306122.1:p.Glu345Lys, XP_047306129.1:p.Glu346Lys, XP_047306136.1:p.Glu345Lys, XP_047306139.1:p.Glu345Lys, XP_047306140.1:p.Glu345Lys, XP_047306142.1:p.Glu346Lys, XP_047306146.1:p.Glu345Lys, XP_047306120.1:p.Glu346Lys, XP_047306125.1:p.Glu345Lys, XP_047306131.1:p.Glu346Lys, XP_047306137.1:p.Glu345Lys, XP_047306143.1:p.Glu346Lys, XP_047306147.1:p.Glu345Lys, XP_047306121.1:p.Glu346Lys, XP_047306132.1:p.Glu346Lys, XP_047306144.1:p.Glu346Lys

                                        20.

                                        rs1453072666 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          4:41014322 (GRCh38)
                                          4:41016339 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:41014321:T:C
                                          Gene:
                                          APBB2 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000224/1 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000223/1 (Estonian)
                                          HGVS:
                                          NC_000004.12:g.41014322T>C, NC_000004.11:g.41016339T>C, NG_013337.1:g.205297A>G, NM_173075.5:c.96A>G, NM_173075.4:c.96A>G, NM_004307.2:c.96A>G, NM_004307.1:c.96A>G, NM_001166050.2:c.96A>G, NM_001166050.1:c.96A>G, NM_001330656.2:c.96A>G, NM_001330656.1:c.96A>G, NM_001330658.2:c.96A>G, NM_001330658.1:c.96A>G, XM_006714005.5:c.96A>G, XM_006714005.4:c.96A>G, XM_006714005.3:c.96A>G, XM_006714005.2:c.96A>G, XM_006714005.1:c.96A>G, XM_006714010.5:c.96A>G, XM_006714010.4:c.96A>G, XM_006714010.3:c.96A>G, XM_006714010.2:c.96A>G, XM_006714010.1:c.96A>G, XM_006714011.5:c.96A>G, XM_006714011.4:c.96A>G, XM_006714011.3:c.96A>G, XM_006714011.2:c.96A>G, XM_006714011.1:c.96A>G, XM_006714012.5:c.96A>G, XM_006714012.4:c.96A>G, XM_006714012.3:c.96A>G, XM_006714012.2:c.96A>G, XM_006714012.1:c.96A>G, XM_006714008.5:c.96A>G, XM_006714008.4:c.96A>G, XM_006714008.3:c.96A>G, XM_006714008.2:c.96A>G, XM_006714008.1:c.96A>G, XM_011513687.4:c.96A>G, XM_011513687.3:c.96A>G, XM_011513687.2:c.96A>G, XM_011513687.1:c.96A>G, XM_017008146.3:c.45A>G, XM_017008146.2:c.45A>G, XM_017008146.1:c.45A>G, XM_017008144.3:c.96A>G, XM_017008144.2:c.96A>G, XM_017008144.1:c.96A>G, XM_017008145.3:c.96A>G, XM_017008145.2:c.96A>G, XM_017008145.1:c.96A>G, XM_017008151.3:c.96A>G, XM_017008151.2:c.96A>G, XM_017008151.1:c.96A>G, XM_017008152.3:c.96A>G, XM_017008152.2:c.96A>G, XM_017008152.1:c.96A>G, XM_017008154.3:c.96A>G, XM_017008154.2:c.96A>G, XM_017008154.1:c.96A>G, XM_017008148.3:c.45A>G, XM_017008148.2:c.45A>G, XM_017008148.1:c.45A>G, XM_047450160.1:c.96A>G, XM_047450167.1:c.96A>G, XM_047450171.1:c.96A>G, XM_047450177.1:c.96A>G, XM_047450182.1:c.96A>G, XM_047450185.1:c.96A>G, XM_047450189.1:c.96A>G, XM_047450162.1:c.96A>G, XM_047450168.1:c.96A>G, XM_047450174.1:c.96A>G, XM_047450163.1:c.96A>G, XM_047450178.1:c.96A>G, XM_047450159.1:c.96A>G, XM_047450170.1:c.96A>G, XM_047450172.1:c.96A>G, XM_047450179.1:c.96A>G, XM_047450161.1:c.96A>G, XM_047450166.1:c.96A>G, XM_047450173.1:c.96A>G, XM_047450180.1:c.96A>G, XM_047450183.1:c.96A>G, XM_047450184.1:c.96A>G, XM_047450186.1:c.96A>G, XM_047450190.1:c.96A>G, XM_047450164.1:c.96A>G, XM_047450169.1:c.96A>G, XM_047450175.1:c.96A>G, XM_047450181.1:c.96A>G, XM_047450187.1:c.96A>G, XM_047450191.1:c.96A>G, XM_047450165.1:c.96A>G, XM_047450176.1:c.96A>G, XM_047450188.1:c.96A>G

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