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Items: 1 to 20 of 610

1.

rs1490498578 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    11:74906427 (GRCh38)
    11:74617472 (GRCh37)
    Canonical SPDI:
    NC_000011.10:74906426:C:T
    Gene:
    XRRA1 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant,5_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:
    NC_000011.10:g.74906427C>T, NC_000011.9:g.74617472C>T, NM_182969.4:c.791G>A, NM_182969.3:c.791G>A, NM_182969.2:c.791G>A, XM_011544763.3:c.815G>A, XM_011544763.2:c.815G>A, XM_011544763.1:c.815G>A, XM_005273770.3:c.92G>A, XM_005273770.2:c.92G>A, XM_005273770.1:c.92G>A, XM_017017222.3:c.815G>A, XM_017017222.2:c.815G>A, XM_017017222.1:c.815G>A, XM_017017228.3:c.92G>A, XM_017017228.2:c.92G>A, XM_017017228.1:c.92G>A, NM_001270381.3:c.92G>A, NM_001270381.2:c.92G>A, NM_001270381.1:c.92G>A, XM_017017224.3:c.815G>A, XM_017017224.2:c.815G>A, XM_017017224.1:c.815G>A, NM_001270380.3:c.791G>A, NM_001270380.2:c.791G>A, NM_001270380.1:c.791G>A, XM_011544755.2:c.815G>A, XM_011544755.1:c.815G>A, XM_011544756.2:c.815G>A, XM_011544756.1:c.815G>A, XM_011544758.2:c.644G>A, XM_011544758.1:c.644G>A, XM_011544757.2:c.815G>A, XM_011544757.1:c.815G>A, XM_011544765.2:c.92G>A, XM_011544765.1:c.92G>A, XM_011544759.2:c.620G>A, XM_011544759.1:c.620G>A, XM_017017221.2:c.815G>A, XM_017017221.1:c.815G>A, XM_011544761.2:c.572G>A, XM_011544761.1:c.572G>A, XM_011544762.2:c.815G>A, XM_011544762.1:c.815G>A, NM_001378157.1:c.815G>A, NM_001378158.1:c.815G>A, XM_047426397.1:c.92G>A, NM_001378165.1:c.-174G>A, NM_001378161.1:c.92G>A, XM_047426386.1:c.815G>A, XM_047426382.1:c.791G>A, NM_001378166.1:c.-174G>A, NM_001378159.1:c.815G>A, XM_047426388.1:c.92G>A, NM_001378162.1:c.92G>A, NM_001378174.1:c.-174G>A, XM_047426391.1:c.92G>A, XM_047426383.1:c.644G>A, XM_047426400.1:c.92G>A, XM_047426390.1:c.644G>A, NM_001378169.1:c.-174G>A, XM_047426392.1:c.92G>A, XM_047426393.1:c.92G>A, XM_047426384.1:c.644G>A, NM_001378163.1:c.92G>A, NM_001378160.1:c.815G>A, NM_001378164.1:c.92G>A, XM_047426394.1:c.92G>A, NM_001378170.1:c.92G>A, NM_001378175.1:c.-174G>A, XM_047426395.1:c.92G>A, XM_047426387.1:c.572G>A, XM_047426396.1:c.92G>A, NM_001378176.1:c.-174G>A, XM_047426385.1:c.326G>A, XM_047426405.1:c.92G>A, NM_001378167.1:c.-174G>A, NR_165434.1:n.855G>A, XM_047426399.1:c.92G>A, NM_001378173.1:c.92G>A, NM_001378172.1:c.92G>A, XM_047426401.1:c.92G>A, XM_047426389.1:c.326G>A, XM_047426402.1:c.92G>A, XM_047426406.1:c.92G>A, XM_047426404.1:c.92G>A, NM_001378168.1:c.92G>A, XM_047426407.1:c.92G>A, XM_047426408.1:c.92G>A, NM_001378171.1:c.92G>A, NP_892014.1:p.Arg264Lys, XP_011543065.1:p.Arg272Lys, XP_005273827.1:p.Arg31Lys, XP_016872711.1:p.Arg272Lys, XP_016872717.1:p.Arg31Lys, NP_001257310.1:p.Arg31Lys, XP_016872713.1:p.Arg272Lys, NP_001257309.1:p.Arg264Lys, XP_011543057.1:p.Arg272Lys, XP_011543058.1:p.Arg272Lys, XP_011543060.1:p.Arg215Lys, XP_011543059.1:p.Arg272Lys, XP_011543067.1:p.Arg31Lys, XP_011543061.1:p.Arg207Lys, XP_016872710.1:p.Arg272Lys, XP_011543063.1:p.Arg191Lys, XP_011543064.1:p.Arg272Lys, NP_001365086.1:p.Arg272Lys, NP_001365087.1:p.Arg272Lys, XP_047282353.1:p.Arg31Lys, NP_001365090.1:p.Arg31Lys, XP_047282342.1:p.Arg272Lys, XP_047282338.1:p.Arg264Lys, NP_001365088.1:p.Arg272Lys, XP_047282344.1:p.Arg31Lys, NP_001365091.1:p.Arg31Lys, XP_047282347.1:p.Arg31Lys, XP_047282339.1:p.Arg215Lys, XP_047282356.1:p.Arg31Lys, XP_047282346.1:p.Arg215Lys, XP_047282348.1:p.Arg31Lys, XP_047282349.1:p.Arg31Lys, XP_047282340.1:p.Arg215Lys, NP_001365092.1:p.Arg31Lys, NP_001365089.1:p.Arg272Lys, NP_001365093.1:p.Arg31Lys, XP_047282350.1:p.Arg31Lys, NP_001365099.1:p.Arg31Lys, XP_047282351.1:p.Arg31Lys, XP_047282343.1:p.Arg191Lys, XP_047282352.1:p.Arg31Lys, XP_047282341.1:p.Arg109Lys, XP_047282361.1:p.Arg31Lys, XP_047282355.1:p.Arg31Lys, NP_001365102.1:p.Arg31Lys, NP_001365101.1:p.Arg31Lys, XP_047282357.1:p.Arg31Lys, XP_047282345.1:p.Arg109Lys, XP_047282358.1:p.Arg31Lys, XP_047282362.1:p.Arg31Lys, XP_047282360.1:p.Arg31Lys, NP_001365097.1:p.Arg31Lys, XP_047282363.1:p.Arg31Lys, XP_047282364.1:p.Arg31Lys, NP_001365100.1:p.Arg31Lys

    2.

    rs1490140228 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->ACG [Show Flanks]
      Chromosome:
      11:74906243 (GRCh38)
      11:74617289 (GRCh37)
      Canonical SPDI:
      NC_000011.10:74906243:CG:CGACG
      Gene:
      XRRA1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,intron_variant,inframe_insertion
      Validated:
      by frequency
      MAF:
      CGA=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000011.10:g.74906245_74906246insACG, NC_000011.9:g.74617290_74617291insACG, NM_182969.4:c.974_975insTCG, NM_182969.3:c.974_975insTCG, NM_182969.2:c.974_975insTCG, XM_011544763.3:c.998_999insTCG, XM_011544763.2:c.998_999insTCG, XM_011544763.1:c.998_999insTCG, XM_005273770.3:c.275_276insTCG, XM_005273770.2:c.275_276insTCG, XM_005273770.1:c.275_276insTCG, XM_017017222.3:c.998_999insTCG, XM_017017222.2:c.998_999insTCG, XM_017017222.1:c.998_999insTCG, XM_017017228.3:c.275_276insTCG, XM_017017228.2:c.275_276insTCG, XM_017017228.1:c.275_276insTCG, NM_001270381.3:c.275_276insTCG, NM_001270381.2:c.275_276insTCG, NM_001270381.1:c.275_276insTCG, XM_017017224.3:c.998_999insTCG, XM_017017224.2:c.998_999insTCG, XM_017017224.1:c.998_999insTCG, NM_001270380.3:c.974_975insTCG, NM_001270380.2:c.974_975insTCG, NM_001270380.1:c.974_975insTCG, XM_011544755.2:c.998_999insTCG, XM_011544755.1:c.998_999insTCG, XM_011544756.2:c.998_999insTCG, XM_011544756.1:c.998_999insTCG, XM_011544758.2:c.827_828insTCG, XM_011544758.1:c.827_828insTCG, XM_011544757.2:c.998_999insTCG, XM_011544757.1:c.998_999insTCG, XM_011544765.2:c.275_276insTCG, XM_011544765.1:c.275_276insTCG, XM_011544759.2:c.803_804insTCG, XM_011544759.1:c.803_804insTCG, XM_017017221.2:c.998_999insTCG, XM_017017221.1:c.998_999insTCG, XM_011544761.2:c.755_756insTCG, XM_011544761.1:c.755_756insTCG, XM_011544762.2:c.998_999insTCG, XM_011544762.1:c.998_999insTCG, NM_001378157.1:c.998_999insTCG, NM_001378158.1:c.998_999insTCG, XM_047426397.1:c.275_276insTCG, NM_001378165.1:c.10_11insTCG, NM_001378161.1:c.275_276insTCG, XM_047426386.1:c.998_999insTCG, XM_047426382.1:c.974_975insTCG, NM_001378166.1:c.10_11insTCG, NM_001378159.1:c.998_999insTCG, XM_047426388.1:c.275_276insTCG, NM_001378162.1:c.275_276insTCG, NM_001378174.1:c.10_11insTCG, XM_047426391.1:c.275_276insTCG, XM_047426383.1:c.827_828insTCG, XM_047426400.1:c.275_276insTCG, XM_047426390.1:c.827_828insTCG, NM_001378169.1:c.10_11insTCG, XM_047426392.1:c.275_276insTCG, XM_047426393.1:c.275_276insTCG, XM_047426384.1:c.827_828insTCG, NM_001378163.1:c.275_276insTCG, NM_001378160.1:c.998_999insTCG, NM_001378164.1:c.275_276insTCG, XM_047426394.1:c.275_276insTCG, NM_001378170.1:c.275_276insTCG, NM_001378175.1:c.10_11insTCG, XM_047426395.1:c.275_276insTCG, XM_047426387.1:c.755_756insTCG, XM_047426396.1:c.275_276insTCG, NM_001378176.1:c.10_11insTCG, XM_047426385.1:c.509_510insTCG, XM_047426405.1:c.275_276insTCG, NM_001378167.1:c.10_11insTCG, NR_165434.1:n.1038_1039insTCG, XM_047426399.1:c.275_276insTCG, NM_001378173.1:c.275_276insTCG, NM_001378172.1:c.275_276insTCG, XM_047426401.1:c.275_276insTCG, XM_047426389.1:c.509_510insTCG, XM_047426402.1:c.275_276insTCG, XM_047426406.1:c.275_276insTCG, XM_047426404.1:c.275_276insTCG, NM_001378168.1:c.275_276insTCG, XM_047426407.1:c.275_276insTCG, XM_047426408.1:c.275_276insTCG, NM_001378171.1:c.275_276insTCG, NP_892014.1:p.Arg325dup, XP_011543065.1:p.Arg333dup, XP_005273827.1:p.Arg92dup, XP_016872711.1:p.Arg333dup, XP_016872717.1:p.Arg92dup, NP_001257310.1:p.Arg92dup, XP_016872713.1:p.Arg333dup, NP_001257309.1:p.Arg325dup, XP_011543057.1:p.Arg333dup, XP_011543058.1:p.Arg333dup, XP_011543060.1:p.Arg276dup, XP_011543059.1:p.Arg333dup, XP_011543067.1:p.Arg92dup, XP_011543061.1:p.Arg268dup, XP_016872710.1:p.Arg333dup, XP_011543063.1:p.Arg252dup, XP_011543064.1:p.Arg333dup, NP_001365086.1:p.Arg333dup, NP_001365087.1:p.Arg333dup, XP_047282353.1:p.Arg92dup, NP_001365094.1:p.Gly4_Gln5insVal, NP_001365090.1:p.Arg92dup, XP_047282342.1:p.Arg333dup, XP_047282338.1:p.Arg325dup, NP_001365095.1:p.Gly4_Gln5insVal, NP_001365088.1:p.Arg333dup, XP_047282344.1:p.Arg92dup, NP_001365091.1:p.Arg92dup, NP_001365103.1:p.Gly4_Gln5insVal, XP_047282347.1:p.Arg92dup, XP_047282339.1:p.Arg276dup, XP_047282356.1:p.Arg92dup, XP_047282346.1:p.Arg276dup, NP_001365098.1:p.Gly4_Gln5insVal, XP_047282348.1:p.Arg92dup, XP_047282349.1:p.Arg92dup, XP_047282340.1:p.Arg276dup, NP_001365092.1:p.Arg92dup, NP_001365089.1:p.Arg333dup, NP_001365093.1:p.Arg92dup, XP_047282350.1:p.Arg92dup, NP_001365099.1:p.Arg92dup, NP_001365104.1:p.Gly4_Gln5insVal, XP_047282351.1:p.Arg92dup, XP_047282343.1:p.Arg252dup, XP_047282352.1:p.Arg92dup, NP_001365105.1:p.Gly4_Gln5insVal, XP_047282341.1:p.Arg170dup, XP_047282361.1:p.Arg92dup, NP_001365096.1:p.Gly4_Gln5insVal, XP_047282355.1:p.Arg92dup, NP_001365102.1:p.Arg92dup, NP_001365101.1:p.Arg92dup, XP_047282357.1:p.Arg92dup, XP_047282345.1:p.Arg170dup, XP_047282358.1:p.Arg92dup, XP_047282362.1:p.Arg92dup, XP_047282360.1:p.Arg92dup, NP_001365097.1:p.Arg92dup, XP_047282363.1:p.Arg92dup, XP_047282364.1:p.Arg92dup, NP_001365100.1:p.Arg92dup

      3.

      rs1490079480 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        11:74851202 (GRCh38)
        11:74562247 (GRCh37)
        Canonical SPDI:
        NC_000011.10:74851201:C:T
        Gene:
        XRRA1 (Varview)
        Functional Consequence:
        coding_sequence_variant,stop_gained,non_coding_transcript_variant,intron_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000011.10:g.74851202C>T, NC_000011.9:g.74562247C>T, NM_182969.4:c.1242G>A, NM_182969.3:c.1242G>A, NM_182969.2:c.1242G>A, XM_011544763.3:c.1266G>A, XM_011544763.2:c.1266G>A, XM_011544763.1:c.1266G>A, XM_005273770.3:c.543G>A, XM_005273770.2:c.543G>A, XM_005273770.1:c.543G>A, XM_017017222.3:c.1140G>A, XM_017017222.2:c.1140G>A, XM_017017222.1:c.1140G>A, XM_017017228.3:c.543G>A, XM_017017228.2:c.543G>A, XM_017017228.1:c.543G>A, NM_001270381.3:c.417G>A, NM_001270381.2:c.417G>A, NM_001270381.1:c.417G>A, XM_017017224.3:c.1005G>A, XM_017017224.2:c.1005G>A, XM_017017224.1:c.1005G>A, NM_001270380.3:c.981G>A, NM_001270380.2:c.981G>A, NM_001270380.1:c.981G>A, XM_011544755.2:c.1221G>A, XM_011544755.1:c.1221G>A, XM_011544756.2:c.1140G>A, XM_011544756.1:c.1140G>A, XM_011544758.2:c.1095G>A, XM_011544758.1:c.1095G>A, XM_011544757.2:c.1095G>A, XM_011544757.1:c.1095G>A, XM_011544765.2:c.543G>A, XM_011544765.1:c.543G>A, XM_011544759.2:c.1071G>A, XM_011544759.1:c.1071G>A, XM_011544761.2:c.1023G>A, XM_011544761.1:c.1023G>A, XM_011544762.2:c.1005G>A, XM_011544762.1:c.1005G>A, NM_001378157.1:c.1266G>A, NM_001378158.1:c.1221G>A, XM_047426397.1:c.417G>A, NM_001378165.1:c.111G>A, NM_001378161.1:c.372G>A, XM_047426386.1:c.1095G>A, XM_047426382.1:c.981G>A, NM_001378166.1:c.111G>A, XM_047426388.1:c.543G>A, NM_001378162.1:c.282G>A, NM_001378174.1:c.111G>A, XM_047426400.1:c.417G>A, XM_047426390.1:c.969G>A, NM_001378169.1:c.66G>A, XM_047426392.1:c.543G>A, XM_047426393.1:c.282G>A, XM_047426384.1:c.834G>A, XM_047426394.1:c.417G>A, NM_001378170.1:c.282G>A, NM_001378175.1:c.111G>A, XM_047426387.1:c.762G>A, NM_001378176.1:c.111G>A, XM_047426385.1:c.777G>A, XM_047426405.1:c.417G>A, NM_001378167.1:c.111G>A, NR_165435.1:n.1019G>A, XM_047426399.1:c.282G>A, NR_165436.1:n.951G>A, XM_047426401.1:c.282G>A, XM_047426389.1:c.651G>A, XM_047426406.1:c.282G>A, NM_001378168.1:c.417G>A, XM_047426407.1:c.282G>A, NR_165437.1:n.671G>A, NM_001378171.1:c.282G>A, XM_047426403.1:c.306G>A, XP_011543057.1:p.Trp407Ter, XP_011543059.1:p.Trp365Ter, NP_001365087.1:p.Trp407Ter, NP_001365090.1:p.Trp124Ter, XP_047282342.1:p.Trp365Ter, NP_001365098.1:p.Trp22Ter

        4.

        rs1488750281 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          T>- [Show Flanks]
          Chromosome:
          11:74906342 (GRCh38)
          11:74617387 (GRCh37)
          Canonical SPDI:
          NC_000011.10:74906341:TTT:TT
          Gene:
          XRRA1 (Varview)
          Functional Consequence:
          coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TT=0.000071/1 (ALFA)
          -=0.000004/1 (GnomAD_exomes)
          -=0.000004/1 (TOPMED)
          HGVS:
          NC_000011.10:g.74906344del, NC_000011.9:g.74617389del, NM_182969.4:c.876del, NM_182969.3:c.876del, NM_182969.2:c.876del, XM_011544763.3:c.900del, XM_011544763.2:c.900del, XM_011544763.1:c.900del, XM_005273770.3:c.177del, XM_005273770.2:c.177del, XM_005273770.1:c.177del, XM_017017222.3:c.900del, XM_017017222.2:c.900del, XM_017017222.1:c.900del, XM_017017228.3:c.177del, XM_017017228.2:c.177del, XM_017017228.1:c.177del, NM_001270381.3:c.177del, NM_001270381.2:c.177del, NM_001270381.1:c.177del, XM_017017224.3:c.900del, XM_017017224.2:c.900del, XM_017017224.1:c.900del, NM_001270380.3:c.876del, NM_001270380.2:c.876del, NM_001270380.1:c.876del, XM_011544755.2:c.900del, XM_011544755.1:c.900del, XM_011544756.2:c.900del, XM_011544756.1:c.900del, XM_011544758.2:c.729del, XM_011544758.1:c.729del, XM_011544757.2:c.900del, XM_011544757.1:c.900del, XM_011544765.2:c.177del, XM_011544765.1:c.177del, XM_011544759.2:c.705del, XM_011544759.1:c.705del, XM_017017221.2:c.900del, XM_017017221.1:c.900del, XM_011544761.2:c.657del, XM_011544761.1:c.657del, XM_011544762.2:c.900del, XM_011544762.1:c.900del, NM_001378157.1:c.900del, NM_001378158.1:c.900del, XM_047426397.1:c.177del, NM_001378165.1:c.-89del, NM_001378161.1:c.177del, XM_047426386.1:c.900del, XM_047426382.1:c.876del, NM_001378166.1:c.-89del, NM_001378159.1:c.900del, XM_047426388.1:c.177del, NM_001378162.1:c.177del, NM_001378174.1:c.-89del, XM_047426391.1:c.177del, XM_047426383.1:c.729del, XM_047426400.1:c.177del, XM_047426390.1:c.729del, NM_001378169.1:c.-89del, XM_047426392.1:c.177del, XM_047426393.1:c.177del, XM_047426384.1:c.729del, NM_001378163.1:c.177del, NM_001378160.1:c.900del, NM_001378164.1:c.177del, XM_047426394.1:c.177del, NM_001378170.1:c.177del, NM_001378175.1:c.-89del, XM_047426395.1:c.177del, XM_047426387.1:c.657del, XM_047426396.1:c.177del, NM_001378176.1:c.-89del, XM_047426385.1:c.411del, XM_047426405.1:c.177del, NM_001378167.1:c.-89del, NR_165434.1:n.940del, XM_047426399.1:c.177del, NM_001378173.1:c.177del, NM_001378172.1:c.177del, XM_047426401.1:c.177del, XM_047426389.1:c.411del, XM_047426402.1:c.177del, XM_047426406.1:c.177del, XM_047426404.1:c.177del, NM_001378168.1:c.177del, XM_047426407.1:c.177del, XM_047426408.1:c.177del, NM_001378171.1:c.177del, NP_892014.1:p.Glu293fs, XP_011543065.1:p.Glu301fs, XP_005273827.1:p.Glu60fs, XP_016872711.1:p.Glu301fs, XP_016872717.1:p.Glu60fs, NP_001257310.1:p.Glu60fs, XP_016872713.1:p.Glu301fs, NP_001257309.1:p.Glu293fs, XP_011543057.1:p.Glu301fs, XP_011543058.1:p.Glu301fs, XP_011543060.1:p.Glu244fs, XP_011543059.1:p.Glu301fs, XP_011543067.1:p.Glu60fs, XP_011543061.1:p.Glu236fs, XP_016872710.1:p.Glu301fs, XP_011543063.1:p.Glu220fs, XP_011543064.1:p.Glu301fs, NP_001365086.1:p.Glu301fs, NP_001365087.1:p.Glu301fs, XP_047282353.1:p.Glu60fs, NP_001365090.1:p.Glu60fs, XP_047282342.1:p.Glu301fs, XP_047282338.1:p.Glu293fs, NP_001365088.1:p.Glu301fs, XP_047282344.1:p.Glu60fs, NP_001365091.1:p.Glu60fs, XP_047282347.1:p.Glu60fs, XP_047282339.1:p.Glu244fs, XP_047282356.1:p.Glu60fs, XP_047282346.1:p.Glu244fs, XP_047282348.1:p.Glu60fs, XP_047282349.1:p.Glu60fs, XP_047282340.1:p.Glu244fs, NP_001365092.1:p.Glu60fs, NP_001365089.1:p.Glu301fs, NP_001365093.1:p.Glu60fs, XP_047282350.1:p.Glu60fs, NP_001365099.1:p.Glu60fs, XP_047282351.1:p.Glu60fs, XP_047282343.1:p.Glu220fs, XP_047282352.1:p.Glu60fs, XP_047282341.1:p.Glu138fs, XP_047282361.1:p.Glu60fs, XP_047282355.1:p.Glu60fs, NP_001365102.1:p.Glu60fs, NP_001365101.1:p.Glu60fs, XP_047282357.1:p.Glu60fs, XP_047282345.1:p.Glu138fs, XP_047282358.1:p.Glu60fs, XP_047282362.1:p.Glu60fs, XP_047282360.1:p.Glu60fs, NP_001365097.1:p.Glu60fs, XP_047282363.1:p.Glu60fs, XP_047282364.1:p.Glu60fs, NP_001365100.1:p.Glu60fs

          5.

          rs1487895206 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            11:74845271 (GRCh38)
            11:74556316 (GRCh37)
            Canonical SPDI:
            NC_000011.10:74845270:C:T
            Gene:
            XRRA1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            T=0.000008/2 (GnomAD_exomes)
            HGVS:
            NC_000011.10:g.74845271C>T, NC_000011.9:g.74556316C>T, NM_182969.4:c.1705G>A, NM_182969.3:c.1705G>A, NM_182969.2:c.1705G>A, XM_011544763.3:c.1729G>A, XM_011544763.2:c.1729G>A, XM_011544763.1:c.1729G>A, XM_005273770.3:c.1006G>A, XM_005273770.2:c.1006G>A, XM_005273770.1:c.1006G>A, XM_017017222.3:c.1603G>A, XM_017017222.2:c.1603G>A, XM_017017222.1:c.1603G>A, XM_017017228.3:c.1006G>A, XM_017017228.2:c.1006G>A, XM_017017228.1:c.1006G>A, NM_001270381.3:c.880G>A, NM_001270381.2:c.880G>A, NM_001270381.1:c.880G>A, XM_017017224.3:c.1468G>A, XM_017017224.2:c.1468G>A, XM_017017224.1:c.1468G>A, NM_001270380.3:c.1444G>A, NM_001270380.2:c.1444G>A, NM_001270380.1:c.1444G>A, XM_011544755.2:c.1684G>A, XM_011544755.1:c.1684G>A, XM_011544756.2:c.1603G>A, XM_011544756.1:c.1603G>A, XM_011544758.2:c.1558G>A, XM_011544758.1:c.1558G>A, XM_011544757.2:c.1558G>A, XM_011544757.1:c.1558G>A, XM_011544765.2:c.1006G>A, XM_011544765.1:c.1006G>A, XM_011544759.2:c.1534G>A, XM_011544759.1:c.1534G>A, XM_017017221.2:c.1519G>A, XM_017017221.1:c.1519G>A, XM_011544761.2:c.1486G>A, XM_011544761.1:c.1486G>A, XM_011544762.2:c.1468G>A, XM_011544762.1:c.1468G>A, NM_001378157.1:c.1729G>A, NM_001378158.1:c.1684G>A, XM_047426397.1:c.880G>A, NM_001378165.1:c.574G>A, NM_001378161.1:c.835G>A, XM_047426386.1:c.1558G>A, XM_047426382.1:c.1444G>A, NM_001378166.1:c.574G>A, NM_001378159.1:c.1393G>A, XM_047426388.1:c.1006G>A, NM_001378162.1:c.745G>A, NM_001378174.1:c.574G>A, XM_047426391.1:c.796G>A, XM_047426383.1:c.1348G>A, XM_047426400.1:c.880G>A, XM_047426390.1:c.1432G>A, NM_001378169.1:c.529G>A, XM_047426392.1:c.1006G>A, XM_047426393.1:c.745G>A, XM_047426384.1:c.1297G>A, NM_001378163.1:c.670G>A, NM_001378160.1:c.1393G>A, NM_001378164.1:c.670G>A, XM_047426394.1:c.880G>A, NM_001378170.1:c.745G>A, NM_001378175.1:c.574G>A, XM_047426395.1:c.670G>A, XM_047426387.1:c.1225G>A, XM_047426396.1:c.670G>A, NM_001378176.1:c.574G>A, XM_047426385.1:c.1240G>A, XM_047426405.1:c.880G>A, NM_001378167.1:c.574G>A, NR_165434.1:n.1486G>A, NR_165435.1:n.1482G>A, XM_047426399.1:c.745G>A, NM_001378173.1:c.670G>A, NM_001378172.1:c.670G>A, NR_165436.1:n.1414G>A, XM_047426401.1:c.745G>A, XM_047426389.1:c.1114G>A, XM_047426402.1:c.670G>A, XM_047426406.1:c.745G>A, XM_047426404.1:c.670G>A, NM_001378168.1:c.880G>A, XM_047426407.1:c.745G>A, XM_047426408.1:c.670G>A, NR_165437.1:n.1134G>A, NM_001378171.1:c.745G>A, NR_165438.1:n.967G>A, XM_047426403.1:c.769G>A, NR_165439.1:n.832G>A, NP_892014.1:p.Val569Met, XP_011543065.1:p.Val577Met, XP_005273827.1:p.Val336Met, XP_016872711.1:p.Val535Met, XP_016872717.1:p.Val336Met, NP_001257310.1:p.Val294Met, XP_016872713.1:p.Val490Met, NP_001257309.1:p.Val482Met, XP_011543057.1:p.Val562Met, XP_011543058.1:p.Val535Met, XP_011543060.1:p.Val520Met, XP_011543059.1:p.Val520Met, XP_011543067.1:p.Val336Met, XP_011543061.1:p.Val512Met, XP_016872710.1:p.Val507Met, XP_011543063.1:p.Val496Met, XP_011543064.1:p.Val490Met, NP_001365086.1:p.Val577Met, NP_001365087.1:p.Val562Met, XP_047282353.1:p.Val294Met, NP_001365094.1:p.Val192Met, NP_001365090.1:p.Val279Met, XP_047282342.1:p.Val520Met, XP_047282338.1:p.Val482Met, NP_001365095.1:p.Val192Met, NP_001365088.1:p.Val465Met, XP_047282344.1:p.Val336Met, NP_001365091.1:p.Val249Met, NP_001365103.1:p.Val192Met, XP_047282347.1:p.Val266Met, XP_047282339.1:p.Val450Met, XP_047282356.1:p.Val294Met, XP_047282346.1:p.Val478Met, NP_001365098.1:p.Val177Met, XP_047282348.1:p.Val336Met, XP_047282349.1:p.Val249Met, XP_047282340.1:p.Val433Met, NP_001365092.1:p.Val224Met, NP_001365089.1:p.Val465Met, NP_001365093.1:p.Val224Met, XP_047282350.1:p.Val294Met, NP_001365099.1:p.Val249Met, NP_001365104.1:p.Val192Met, XP_047282351.1:p.Val224Met, XP_047282343.1:p.Val409Met, XP_047282352.1:p.Val224Met, NP_001365105.1:p.Val192Met, XP_047282341.1:p.Val414Met, XP_047282361.1:p.Val294Met, NP_001365096.1:p.Val192Met, XP_047282355.1:p.Val249Met, NP_001365102.1:p.Val224Met, NP_001365101.1:p.Val224Met, XP_047282357.1:p.Val249Met, XP_047282345.1:p.Val372Met, XP_047282358.1:p.Val224Met, XP_047282362.1:p.Val249Met, XP_047282360.1:p.Val224Met, NP_001365097.1:p.Val294Met, XP_047282363.1:p.Val249Met, XP_047282364.1:p.Val224Met, NP_001365100.1:p.Val249Met, XP_047282359.1:p.Val257Met

            6.

            rs1487447513 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->GCAT [Show Flanks]
              Chromosome:
              11:74848302 (GRCh38)
              11:74559348 (GRCh37)
              Canonical SPDI:
              NC_000011.10:74848302:GCAT:GCATGCAT
              Gene:
              XRRA1 (Varview)
              Functional Consequence:
              frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              GCATGCAT=0./0 (ALFA)
              HGVS:
              NC_000011.10:g.74848303_74848306dup, NC_000011.9:g.74559348_74559351dup, NM_182969.4:c.1513_1516dup, NM_182969.3:c.1513_1516dup, NM_182969.2:c.1513_1516dup, XM_011544763.3:c.1537_1540dup, XM_011544763.2:c.1537_1540dup, XM_011544763.1:c.1537_1540dup, XM_005273770.3:c.814_817dup, XM_005273770.2:c.814_817dup, XM_005273770.1:c.814_817dup, XM_017017222.3:c.1411_1414dup, XM_017017222.2:c.1411_1414dup, XM_017017222.1:c.1411_1414dup, XM_017017228.3:c.814_817dup, XM_017017228.2:c.814_817dup, XM_017017228.1:c.814_817dup, NM_001270381.3:c.688_691dup, NM_001270381.2:c.688_691dup, NM_001270381.1:c.688_691dup, XM_017017224.3:c.1276_1279dup, XM_017017224.2:c.1276_1279dup, XM_017017224.1:c.1276_1279dup, NM_001270380.3:c.1252_1255dup, NM_001270380.2:c.1252_1255dup, NM_001270380.1:c.1252_1255dup, XM_011544755.2:c.1492_1495dup, XM_011544755.1:c.1492_1495dup, XM_011544756.2:c.1411_1414dup, XM_011544756.1:c.1411_1414dup, XM_011544758.2:c.1366_1369dup, XM_011544758.1:c.1366_1369dup, XM_011544757.2:c.1366_1369dup, XM_011544757.1:c.1366_1369dup, XM_011544765.2:c.814_817dup, XM_011544765.1:c.814_817dup, XM_011544759.2:c.1342_1345dup, XM_011544759.1:c.1342_1345dup, XM_017017221.2:c.1327_1330dup, XM_017017221.1:c.1327_1330dup, XM_011544761.2:c.1294_1297dup, XM_011544761.1:c.1294_1297dup, XM_011544762.2:c.1276_1279dup, XM_011544762.1:c.1276_1279dup, NM_001378157.1:c.1537_1540dup, NM_001378158.1:c.1492_1495dup, XM_047426397.1:c.688_691dup, NM_001378165.1:c.382_385dup, NM_001378161.1:c.643_646dup, XM_047426386.1:c.1366_1369dup, XM_047426382.1:c.1252_1255dup, NM_001378166.1:c.382_385dup, NM_001378159.1:c.1201_1204dup, XM_047426388.1:c.814_817dup, NM_001378162.1:c.553_556dup, NM_001378174.1:c.382_385dup, XM_047426391.1:c.604_607dup, XM_047426383.1:c.1156_1159dup, XM_047426400.1:c.688_691dup, XM_047426390.1:c.1240_1243dup, NM_001378169.1:c.337_340dup, XM_047426392.1:c.814_817dup, XM_047426393.1:c.553_556dup, XM_047426384.1:c.1105_1108dup, NM_001378163.1:c.478_481dup, NM_001378160.1:c.1201_1204dup, NM_001378164.1:c.478_481dup, XM_047426394.1:c.688_691dup, NM_001378170.1:c.553_556dup, NM_001378175.1:c.382_385dup, XM_047426395.1:c.478_481dup, XM_047426387.1:c.1033_1036dup, XM_047426396.1:c.478_481dup, NM_001378176.1:c.382_385dup, XM_047426385.1:c.1048_1051dup, XM_047426405.1:c.688_691dup, NM_001378167.1:c.382_385dup, NR_165434.1:n.1294_1297dup, NR_165435.1:n.1290_1293dup, XM_047426399.1:c.553_556dup, NM_001378173.1:c.478_481dup, NM_001378172.1:c.478_481dup, NR_165436.1:n.1222_1225dup, XM_047426401.1:c.553_556dup, XM_047426389.1:c.922_925dup, XM_047426402.1:c.478_481dup, XM_047426406.1:c.553_556dup, XM_047426404.1:c.478_481dup, NM_001378168.1:c.688_691dup, XM_047426407.1:c.553_556dup, XM_047426408.1:c.478_481dup, NR_165437.1:n.942_945dup, NM_001378171.1:c.553_556dup, NR_165438.1:n.775_778dup, XM_047426403.1:c.577_580dup, NR_165439.1:n.640_643dup, NP_892014.1:p.Pro506fs, XP_011543065.1:p.Pro514fs, XP_005273827.1:p.Pro273fs, XP_016872711.1:p.Pro472fs, XP_016872717.1:p.Pro273fs, NP_001257310.1:p.Pro231fs, XP_016872713.1:p.Pro427fs, NP_001257309.1:p.Pro419fs, XP_011543057.1:p.Pro499fs, XP_011543058.1:p.Pro472fs, XP_011543060.1:p.Pro457fs, XP_011543059.1:p.Pro457fs, XP_011543067.1:p.Pro273fs, XP_011543061.1:p.Pro449fs, XP_016872710.1:p.Pro444fs, XP_011543063.1:p.Pro433fs, XP_011543064.1:p.Pro427fs, NP_001365086.1:p.Pro514fs, NP_001365087.1:p.Pro499fs, XP_047282353.1:p.Pro231fs, NP_001365094.1:p.Pro129fs, NP_001365090.1:p.Pro216fs, XP_047282342.1:p.Pro457fs, XP_047282338.1:p.Pro419fs, NP_001365095.1:p.Pro129fs, NP_001365088.1:p.Pro402fs, XP_047282344.1:p.Pro273fs, NP_001365091.1:p.Pro186fs, NP_001365103.1:p.Pro129fs, XP_047282347.1:p.Pro203fs, XP_047282339.1:p.Pro387fs, XP_047282356.1:p.Pro231fs, XP_047282346.1:p.Pro415fs, NP_001365098.1:p.Pro114fs, XP_047282348.1:p.Pro273fs, XP_047282349.1:p.Pro186fs, XP_047282340.1:p.Pro370fs, NP_001365092.1:p.Pro161fs, NP_001365089.1:p.Pro402fs, NP_001365093.1:p.Pro161fs, XP_047282350.1:p.Pro231fs, NP_001365099.1:p.Pro186fs, NP_001365104.1:p.Pro129fs, XP_047282351.1:p.Pro161fs, XP_047282343.1:p.Pro346fs, XP_047282352.1:p.Pro161fs, NP_001365105.1:p.Pro129fs, XP_047282341.1:p.Pro351fs, XP_047282361.1:p.Pro231fs, NP_001365096.1:p.Pro129fs, XP_047282355.1:p.Pro186fs, NP_001365102.1:p.Pro161fs, NP_001365101.1:p.Pro161fs, XP_047282357.1:p.Pro186fs, XP_047282345.1:p.Pro309fs, XP_047282358.1:p.Pro161fs, XP_047282362.1:p.Pro186fs, XP_047282360.1:p.Pro161fs, NP_001365097.1:p.Pro231fs, XP_047282363.1:p.Pro186fs, XP_047282364.1:p.Pro161fs, NP_001365100.1:p.Pro186fs, XP_047282359.1:p.Pro194fs

              7.

              rs1486492625 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                11:74936949 (GRCh38)
                11:74647994 (GRCh37)
                Canonical SPDI:
                NC_000011.10:74936948:T:C
                Gene:
                XRRA1 (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant
                HGVS:
                NC_000011.10:g.74936949T>C, NC_000011.9:g.74647994T>C, NM_182969.4:c.214A>G, NM_182969.3:c.214A>G, NM_182969.2:c.214A>G, XM_011544763.3:c.214A>G, XM_011544763.2:c.214A>G, XM_011544763.1:c.214A>G, XM_005273770.3:c.-510A>G, XM_005273770.2:c.-510A>G, XM_005273770.1:c.-510A>G, XM_017017222.3:c.214A>G, XM_017017222.2:c.214A>G, XM_017017222.1:c.214A>G, XM_017017228.3:c.-510A>G, XM_017017228.2:c.-510A>G, XM_017017228.1:c.-510A>G, NM_001270381.3:c.-510A>G, NM_001270381.2:c.-510A>G, NM_001270381.1:c.-510A>G, XM_017017224.3:c.214A>G, XM_017017224.2:c.214A>G, XM_017017224.1:c.214A>G, NM_001270380.3:c.214A>G, NM_001270380.2:c.214A>G, NM_001270380.1:c.214A>G, XM_011544755.2:c.214A>G, XM_011544755.1:c.214A>G, XM_011544756.2:c.214A>G, XM_011544756.1:c.214A>G, XM_011544758.2:c.214A>G, XM_011544758.1:c.214A>G, XM_011544757.2:c.214A>G, XM_011544757.1:c.214A>G, XM_011544765.2:c.-486A>G, XM_011544765.1:c.-486A>G, XM_011544759.2:c.214A>G, XM_011544759.1:c.214A>G, XM_017017221.2:c.214A>G, XM_017017221.1:c.214A>G, XM_011544761.2:c.214A>G, XM_011544761.1:c.214A>G, XM_011544762.2:c.214A>G, XM_011544762.1:c.214A>G, NM_001378157.1:c.214A>G, NM_001378158.1:c.214A>G, XM_047426397.1:c.-510A>G, NM_001378165.1:c.-775A>G, NM_001378161.1:c.-510A>G, XM_047426386.1:c.214A>G, XM_047426382.1:c.214A>G, NM_001378166.1:c.-775A>G, NM_001378159.1:c.214A>G, XM_047426388.1:c.-339A>G, NM_001378162.1:c.-510A>G, NM_001378174.1:c.-775A>G, XM_047426391.1:c.-510A>G, XM_047426383.1:c.214A>G, XM_047426400.1:c.-510A>G, XM_047426390.1:c.214A>G, NM_001378169.1:c.-677A>G, XM_047426392.1:c.-267A>G, XM_047426393.1:c.-510A>G, XM_047426384.1:c.214A>G, NM_001378163.1:c.-510A>G, NM_001378160.1:c.214A>G, NM_001378164.1:c.-486A>G, XM_047426394.1:c.-339A>G, NM_001378170.1:c.-510A>G, NM_001378175.1:c.-677A>G, XM_047426395.1:c.-510A>G, XM_047426387.1:c.214A>G, XM_047426396.1:c.-486A>G, NM_001378176.1:c.-677A>G, XM_047426405.1:c.-339A>G, NM_001378167.1:c.-532A>G, NR_165434.1:n.352A>G, NR_165435.1:n.352A>G, XM_047426399.1:c.-339A>G, NM_001378173.1:c.-510A>G, NM_001378172.1:c.-412A>G, NR_165436.1:n.284A>G, XM_047426401.1:c.-267A>G, XM_047426402.1:c.-339A>G, XM_047426406.1:c.-339A>G, XM_047426404.1:c.-267A>G, NM_001378168.1:c.-133A>G, XM_047426407.1:c.-267A>G, XM_047426408.1:c.-339A>G, NR_165437.1:n.284A>G, NM_001378171.1:c.-133A>G, NR_165438.1:n.284A>G, NR_165439.1:n.284A>G, NP_892014.1:p.Lys72Glu, XP_011543065.1:p.Lys72Glu, XP_016872711.1:p.Lys72Glu, XP_016872713.1:p.Lys72Glu, NP_001257309.1:p.Lys72Glu, XP_011543057.1:p.Lys72Glu, XP_011543058.1:p.Lys72Glu, XP_011543060.1:p.Lys72Glu, XP_011543059.1:p.Lys72Glu, XP_011543061.1:p.Lys72Glu, XP_016872710.1:p.Lys72Glu, XP_011543063.1:p.Lys72Glu, XP_011543064.1:p.Lys72Glu, NP_001365086.1:p.Lys72Glu, NP_001365087.1:p.Lys72Glu, XP_047282342.1:p.Lys72Glu, XP_047282338.1:p.Lys72Glu, NP_001365088.1:p.Lys72Glu, XP_047282339.1:p.Lys72Glu, XP_047282346.1:p.Lys72Glu, XP_047282340.1:p.Lys72Glu, NP_001365089.1:p.Lys72Glu, XP_047282343.1:p.Lys72Glu

                8.

                rs1481560775 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  11:74848334 (GRCh38)
                  11:74559379 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:74848333:A:G
                  Gene:
                  XRRA1 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000011.10:g.74848334A>G, NC_000011.9:g.74559379A>G, NM_182969.4:c.1485T>C, NM_182969.3:c.1485T>C, NM_182969.2:c.1485T>C, XM_011544763.3:c.1509T>C, XM_011544763.2:c.1509T>C, XM_011544763.1:c.1509T>C, XM_005273770.3:c.786T>C, XM_005273770.2:c.786T>C, XM_005273770.1:c.786T>C, XM_017017222.3:c.1383T>C, XM_017017222.2:c.1383T>C, XM_017017222.1:c.1383T>C, XM_017017228.3:c.786T>C, XM_017017228.2:c.786T>C, XM_017017228.1:c.786T>C, NM_001270381.3:c.660T>C, NM_001270381.2:c.660T>C, NM_001270381.1:c.660T>C, XM_017017224.3:c.1248T>C, XM_017017224.2:c.1248T>C, XM_017017224.1:c.1248T>C, NM_001270380.3:c.1224T>C, NM_001270380.2:c.1224T>C, NM_001270380.1:c.1224T>C, XM_011544755.2:c.1464T>C, XM_011544755.1:c.1464T>C, XM_011544756.2:c.1383T>C, XM_011544756.1:c.1383T>C, XM_011544758.2:c.1338T>C, XM_011544758.1:c.1338T>C, XM_011544757.2:c.1338T>C, XM_011544757.1:c.1338T>C, XM_011544765.2:c.786T>C, XM_011544765.1:c.786T>C, XM_011544759.2:c.1314T>C, XM_011544759.1:c.1314T>C, XM_017017221.2:c.1299T>C, XM_017017221.1:c.1299T>C, XM_011544761.2:c.1266T>C, XM_011544761.1:c.1266T>C, XM_011544762.2:c.1248T>C, XM_011544762.1:c.1248T>C, NM_001378157.1:c.1509T>C, NM_001378158.1:c.1464T>C, XM_047426397.1:c.660T>C, NM_001378165.1:c.354T>C, NM_001378161.1:c.615T>C, XM_047426386.1:c.1338T>C, XM_047426382.1:c.1224T>C, NM_001378166.1:c.354T>C, NM_001378159.1:c.1173T>C, XM_047426388.1:c.786T>C, NM_001378162.1:c.525T>C, NM_001378174.1:c.354T>C, XM_047426391.1:c.576T>C, XM_047426383.1:c.1128T>C, XM_047426400.1:c.660T>C, XM_047426390.1:c.1212T>C, NM_001378169.1:c.309T>C, XM_047426392.1:c.786T>C, XM_047426393.1:c.525T>C, XM_047426384.1:c.1077T>C, NM_001378163.1:c.450T>C, NM_001378160.1:c.1173T>C, NM_001378164.1:c.450T>C, XM_047426394.1:c.660T>C, NM_001378170.1:c.525T>C, NM_001378175.1:c.354T>C, XM_047426395.1:c.450T>C, XM_047426387.1:c.1005T>C, XM_047426396.1:c.450T>C, NM_001378176.1:c.354T>C, XM_047426385.1:c.1020T>C, XM_047426405.1:c.660T>C, NM_001378167.1:c.354T>C, NR_165434.1:n.1266T>C, NR_165435.1:n.1262T>C, XM_047426399.1:c.525T>C, NM_001378173.1:c.450T>C, NM_001378172.1:c.450T>C, NR_165436.1:n.1194T>C, XM_047426401.1:c.525T>C, XM_047426389.1:c.894T>C, XM_047426402.1:c.450T>C, XM_047426406.1:c.525T>C, XM_047426404.1:c.450T>C, NM_001378168.1:c.660T>C, XM_047426407.1:c.525T>C, XM_047426408.1:c.450T>C, NR_165437.1:n.914T>C, NM_001378171.1:c.525T>C, NR_165438.1:n.747T>C, XM_047426403.1:c.549T>C, NR_165439.1:n.612T>C

                  9.

                  rs1479396976 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    11:74851117 (GRCh38)
                    11:74562162 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:74851116:C:A
                    Gene:
                    XRRA1 (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0.000047/1 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000011.10:g.74851117C>A, NC_000011.9:g.74562162C>A, NM_182969.4:c.1327G>T, NM_182969.3:c.1327G>T, NM_182969.2:c.1327G>T, XM_011544763.3:c.1351G>T, XM_011544763.2:c.1351G>T, XM_011544763.1:c.1351G>T, XM_005273770.3:c.628G>T, XM_005273770.2:c.628G>T, XM_005273770.1:c.628G>T, XM_017017222.3:c.1225G>T, XM_017017222.2:c.1225G>T, XM_017017222.1:c.1225G>T, XM_017017228.3:c.628G>T, XM_017017228.2:c.628G>T, XM_017017228.1:c.628G>T, NM_001270381.3:c.502G>T, NM_001270381.2:c.502G>T, NM_001270381.1:c.502G>T, XM_017017224.3:c.1090G>T, XM_017017224.2:c.1090G>T, XM_017017224.1:c.1090G>T, NM_001270380.3:c.1066G>T, NM_001270380.2:c.1066G>T, NM_001270380.1:c.1066G>T, XM_011544755.2:c.1306G>T, XM_011544755.1:c.1306G>T, XM_011544756.2:c.1225G>T, XM_011544756.1:c.1225G>T, XM_011544758.2:c.1180G>T, XM_011544758.1:c.1180G>T, XM_011544757.2:c.1180G>T, XM_011544757.1:c.1180G>T, XM_011544765.2:c.628G>T, XM_011544765.1:c.628G>T, XM_011544759.2:c.1156G>T, XM_011544759.1:c.1156G>T, XM_011544761.2:c.1108G>T, XM_011544761.1:c.1108G>T, XM_011544762.2:c.1090G>T, XM_011544762.1:c.1090G>T, NM_001378157.1:c.1351G>T, NM_001378158.1:c.1306G>T, XM_047426397.1:c.502G>T, NM_001378165.1:c.196G>T, NM_001378161.1:c.457G>T, XM_047426386.1:c.1180G>T, XM_047426382.1:c.1066G>T, NM_001378166.1:c.196G>T, XM_047426388.1:c.628G>T, NM_001378162.1:c.367G>T, NM_001378174.1:c.196G>T, XM_047426400.1:c.502G>T, XM_047426390.1:c.1054G>T, NM_001378169.1:c.151G>T, XM_047426392.1:c.628G>T, XM_047426393.1:c.367G>T, XM_047426384.1:c.919G>T, XM_047426394.1:c.502G>T, NM_001378170.1:c.367G>T, NM_001378175.1:c.196G>T, XM_047426387.1:c.847G>T, NM_001378176.1:c.196G>T, XM_047426385.1:c.862G>T, XM_047426405.1:c.502G>T, NM_001378167.1:c.196G>T, NR_165435.1:n.1104G>T, XM_047426399.1:c.367G>T, NR_165436.1:n.1036G>T, XM_047426401.1:c.367G>T, XM_047426389.1:c.736G>T, XM_047426406.1:c.367G>T, NM_001378168.1:c.502G>T, XM_047426407.1:c.367G>T, NR_165437.1:n.756G>T, NM_001378171.1:c.367G>T, XM_047426403.1:c.391G>T, NP_892014.1:p.Val443Phe, XP_011543065.1:p.Val451Phe, XP_005273827.1:p.Val210Phe, XP_016872711.1:p.Val409Phe, XP_016872717.1:p.Val210Phe, NP_001257310.1:p.Val168Phe, XP_016872713.1:p.Val364Phe, NP_001257309.1:p.Val356Phe, XP_011543057.1:p.Val436Phe, XP_011543058.1:p.Val409Phe, XP_011543060.1:p.Val394Phe, XP_011543059.1:p.Val394Phe, XP_011543067.1:p.Val210Phe, XP_011543061.1:p.Val386Phe, XP_011543063.1:p.Val370Phe, XP_011543064.1:p.Val364Phe, NP_001365086.1:p.Val451Phe, NP_001365087.1:p.Val436Phe, XP_047282353.1:p.Val168Phe, NP_001365094.1:p.Val66Phe, NP_001365090.1:p.Val153Phe, XP_047282342.1:p.Val394Phe, XP_047282338.1:p.Val356Phe, NP_001365095.1:p.Val66Phe, XP_047282344.1:p.Val210Phe, NP_001365091.1:p.Val123Phe, NP_001365103.1:p.Val66Phe, XP_047282356.1:p.Val168Phe, XP_047282346.1:p.Val352Phe, NP_001365098.1:p.Val51Phe, XP_047282348.1:p.Val210Phe, XP_047282349.1:p.Val123Phe, XP_047282340.1:p.Val307Phe, XP_047282350.1:p.Val168Phe, NP_001365099.1:p.Val123Phe, NP_001365104.1:p.Val66Phe, XP_047282343.1:p.Val283Phe, NP_001365105.1:p.Val66Phe, XP_047282341.1:p.Val288Phe, XP_047282361.1:p.Val168Phe, NP_001365096.1:p.Val66Phe, XP_047282355.1:p.Val123Phe, XP_047282357.1:p.Val123Phe, XP_047282345.1:p.Val246Phe, XP_047282362.1:p.Val123Phe, NP_001365097.1:p.Val168Phe, XP_047282363.1:p.Val123Phe, NP_001365100.1:p.Val123Phe, XP_047282359.1:p.Val131Phe

                    10.

                    rs1476978101 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      11:74844244 (GRCh38)
                      11:74555289 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:74844243:T:C
                      Gene:
                      XRRA1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000028/1 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      C=0.000008/2 (GnomAD_exomes)
                      HGVS:
                      NC_000011.10:g.74844244T>C, NC_000011.9:g.74555289T>C, NM_182969.4:c.1943A>G, NM_182969.3:c.1943A>G, NM_182969.2:c.1943A>G, XM_011544763.3:c.1967A>G, XM_011544763.2:c.1967A>G, XM_011544763.1:c.1967A>G, XM_005273770.3:c.1244A>G, XM_005273770.2:c.1244A>G, XM_005273770.1:c.1244A>G, XM_017017222.3:c.1841A>G, XM_017017222.2:c.1841A>G, XM_017017222.1:c.1841A>G, XM_017017228.3:c.1244A>G, XM_017017228.2:c.1244A>G, XM_017017228.1:c.1244A>G, NM_001270381.3:c.1118A>G, NM_001270381.2:c.1118A>G, NM_001270381.1:c.1118A>G, XM_017017224.3:c.1706A>G, XM_017017224.2:c.1706A>G, XM_017017224.1:c.1706A>G, NM_001270380.3:c.1682A>G, NM_001270380.2:c.1682A>G, NM_001270380.1:c.1682A>G, XM_011544755.2:c.1922A>G, XM_011544755.1:c.1922A>G, XM_011544756.2:c.1841A>G, XM_011544756.1:c.1841A>G, XM_011544758.2:c.1796A>G, XM_011544758.1:c.1796A>G, XM_011544757.2:c.1796A>G, XM_011544757.1:c.1796A>G, XM_011544765.2:c.1244A>G, XM_011544765.1:c.1244A>G, XM_011544759.2:c.1772A>G, XM_011544759.1:c.1772A>G, XM_017017221.2:c.1757A>G, XM_017017221.1:c.1757A>G, XM_011544761.2:c.1724A>G, XM_011544761.1:c.1724A>G, XM_011544762.2:c.1706A>G, XM_011544762.1:c.1706A>G, NM_001378157.1:c.1967A>G, NM_001378158.1:c.1922A>G, XM_047426397.1:c.1118A>G, NM_001378165.1:c.812A>G, NM_001378161.1:c.1073A>G, XM_047426386.1:c.1796A>G, XM_047426382.1:c.1682A>G, NM_001378166.1:c.812A>G, NM_001378159.1:c.1631A>G, XM_047426388.1:c.1244A>G, NM_001378162.1:c.983A>G, NM_001378174.1:c.812A>G, XM_047426391.1:c.1034A>G, XM_047426383.1:c.1586A>G, XM_047426400.1:c.1118A>G, XM_047426390.1:c.1670A>G, NM_001378169.1:c.767A>G, XM_047426392.1:c.1244A>G, XM_047426393.1:c.983A>G, XM_047426384.1:c.1535A>G, NM_001378163.1:c.908A>G, NM_001378160.1:c.1631A>G, NM_001378164.1:c.908A>G, XM_047426394.1:c.1118A>G, NM_001378170.1:c.983A>G, NM_001378175.1:c.812A>G, XM_047426395.1:c.908A>G, XM_047426387.1:c.1463A>G, XM_047426396.1:c.908A>G, NM_001378176.1:c.812A>G, XM_047426385.1:c.1478A>G, XM_047426405.1:c.1118A>G, NM_001378167.1:c.812A>G, NR_165434.1:n.1724A>G, NR_165435.1:n.1720A>G, XM_047426399.1:c.983A>G, NM_001378173.1:c.908A>G, NM_001378172.1:c.908A>G, NR_165436.1:n.1652A>G, XM_047426401.1:c.983A>G, XM_047426389.1:c.1352A>G, XM_047426402.1:c.908A>G, XM_047426406.1:c.983A>G, XM_047426404.1:c.908A>G, NM_001378168.1:c.1118A>G, XM_047426407.1:c.983A>G, XM_047426408.1:c.908A>G, NR_165437.1:n.1372A>G, NM_001378171.1:c.983A>G, NR_165438.1:n.1205A>G, XM_047426403.1:c.1007A>G, NR_165439.1:n.1070A>G, NP_892014.1:p.Lys648Arg, XP_011543065.1:p.Lys656Arg, XP_005273827.1:p.Lys415Arg, XP_016872711.1:p.Lys614Arg, XP_016872717.1:p.Lys415Arg, NP_001257310.1:p.Lys373Arg, XP_016872713.1:p.Lys569Arg, NP_001257309.1:p.Lys561Arg, XP_011543057.1:p.Lys641Arg, XP_011543058.1:p.Lys614Arg, XP_011543060.1:p.Lys599Arg, XP_011543059.1:p.Lys599Arg, XP_011543067.1:p.Lys415Arg, XP_011543061.1:p.Lys591Arg, XP_016872710.1:p.Lys586Arg, XP_011543063.1:p.Lys575Arg, XP_011543064.1:p.Lys569Arg, NP_001365086.1:p.Lys656Arg, NP_001365087.1:p.Lys641Arg, XP_047282353.1:p.Lys373Arg, NP_001365094.1:p.Lys271Arg, NP_001365090.1:p.Lys358Arg, XP_047282342.1:p.Lys599Arg, XP_047282338.1:p.Lys561Arg, NP_001365095.1:p.Lys271Arg, NP_001365088.1:p.Lys544Arg, XP_047282344.1:p.Lys415Arg, NP_001365091.1:p.Lys328Arg, NP_001365103.1:p.Lys271Arg, XP_047282347.1:p.Lys345Arg, XP_047282339.1:p.Lys529Arg, XP_047282356.1:p.Lys373Arg, XP_047282346.1:p.Lys557Arg, NP_001365098.1:p.Lys256Arg, XP_047282348.1:p.Lys415Arg, XP_047282349.1:p.Lys328Arg, XP_047282340.1:p.Lys512Arg, NP_001365092.1:p.Lys303Arg, NP_001365089.1:p.Lys544Arg, NP_001365093.1:p.Lys303Arg, XP_047282350.1:p.Lys373Arg, NP_001365099.1:p.Lys328Arg, NP_001365104.1:p.Lys271Arg, XP_047282351.1:p.Lys303Arg, XP_047282343.1:p.Lys488Arg, XP_047282352.1:p.Lys303Arg, NP_001365105.1:p.Lys271Arg, XP_047282341.1:p.Lys493Arg, XP_047282361.1:p.Lys373Arg, NP_001365096.1:p.Lys271Arg, XP_047282355.1:p.Lys328Arg, NP_001365102.1:p.Lys303Arg, NP_001365101.1:p.Lys303Arg, XP_047282357.1:p.Lys328Arg, XP_047282345.1:p.Lys451Arg, XP_047282358.1:p.Lys303Arg, XP_047282362.1:p.Lys328Arg, XP_047282360.1:p.Lys303Arg, NP_001365097.1:p.Lys373Arg, XP_047282363.1:p.Lys328Arg, XP_047282364.1:p.Lys303Arg, NP_001365100.1:p.Lys328Arg, XP_047282359.1:p.Lys336Arg

                      11.

                      rs1476141365 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        11:74936885 (GRCh38)
                        11:74647930 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:74936884:A:G
                        Gene:
                        XRRA1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000011.10:g.74936885A>G, NC_000011.9:g.74647930A>G, NM_182969.4:c.278T>C, NM_182969.3:c.278T>C, NM_182969.2:c.278T>C, XM_011544763.3:c.278T>C, XM_011544763.2:c.278T>C, XM_011544763.1:c.278T>C, XM_005273770.3:c.-446T>C, XM_005273770.2:c.-446T>C, XM_005273770.1:c.-446T>C, XM_017017222.3:c.278T>C, XM_017017222.2:c.278T>C, XM_017017222.1:c.278T>C, XM_017017228.3:c.-446T>C, XM_017017228.2:c.-446T>C, XM_017017228.1:c.-446T>C, NM_001270381.3:c.-446T>C, NM_001270381.2:c.-446T>C, NM_001270381.1:c.-446T>C, XM_017017224.3:c.278T>C, XM_017017224.2:c.278T>C, XM_017017224.1:c.278T>C, NM_001270380.3:c.278T>C, NM_001270380.2:c.278T>C, NM_001270380.1:c.278T>C, XM_011544755.2:c.278T>C, XM_011544755.1:c.278T>C, XM_011544756.2:c.278T>C, XM_011544756.1:c.278T>C, XM_011544758.2:c.278T>C, XM_011544758.1:c.278T>C, XM_011544757.2:c.278T>C, XM_011544757.1:c.278T>C, XM_011544765.2:c.-422T>C, XM_011544765.1:c.-422T>C, XM_011544759.2:c.278T>C, XM_011544759.1:c.278T>C, XM_017017221.2:c.278T>C, XM_017017221.1:c.278T>C, XM_011544761.2:c.278T>C, XM_011544761.1:c.278T>C, XM_011544762.2:c.278T>C, XM_011544762.1:c.278T>C, NM_001378157.1:c.278T>C, NM_001378158.1:c.278T>C, XM_047426397.1:c.-446T>C, NM_001378165.1:c.-711T>C, NM_001378161.1:c.-446T>C, XM_047426386.1:c.278T>C, XM_047426382.1:c.278T>C, NM_001378166.1:c.-711T>C, NM_001378159.1:c.278T>C, XM_047426388.1:c.-275T>C, NM_001378162.1:c.-446T>C, NM_001378174.1:c.-711T>C, XM_047426391.1:c.-446T>C, XM_047426383.1:c.278T>C, XM_047426400.1:c.-446T>C, XM_047426390.1:c.278T>C, NM_001378169.1:c.-613T>C, XM_047426392.1:c.-203T>C, XM_047426393.1:c.-446T>C, XM_047426384.1:c.278T>C, NM_001378163.1:c.-446T>C, NM_001378160.1:c.278T>C, NM_001378164.1:c.-422T>C, XM_047426394.1:c.-275T>C, NM_001378170.1:c.-446T>C, NM_001378175.1:c.-613T>C, XM_047426395.1:c.-446T>C, XM_047426387.1:c.278T>C, XM_047426396.1:c.-422T>C, NM_001378176.1:c.-613T>C, XM_047426405.1:c.-275T>C, NM_001378167.1:c.-468T>C, NR_165434.1:n.416T>C, NR_165435.1:n.416T>C, XM_047426399.1:c.-275T>C, NM_001378173.1:c.-446T>C, NM_001378172.1:c.-348T>C, NR_165436.1:n.348T>C, XM_047426401.1:c.-203T>C, XM_047426402.1:c.-275T>C, XM_047426406.1:c.-275T>C, XM_047426404.1:c.-203T>C, NM_001378168.1:c.-69T>C, XM_047426407.1:c.-203T>C, XM_047426408.1:c.-275T>C, NR_165437.1:n.348T>C, NM_001378171.1:c.-69T>C, NR_165438.1:n.348T>C, NR_165439.1:n.348T>C, NP_892014.1:p.Leu93Pro, XP_011543065.1:p.Leu93Pro, XP_016872711.1:p.Leu93Pro, XP_016872713.1:p.Leu93Pro, NP_001257309.1:p.Leu93Pro, XP_011543057.1:p.Leu93Pro, XP_011543058.1:p.Leu93Pro, XP_011543060.1:p.Leu93Pro, XP_011543059.1:p.Leu93Pro, XP_011543061.1:p.Leu93Pro, XP_016872710.1:p.Leu93Pro, XP_011543063.1:p.Leu93Pro, XP_011543064.1:p.Leu93Pro, NP_001365086.1:p.Leu93Pro, NP_001365087.1:p.Leu93Pro, XP_047282342.1:p.Leu93Pro, XP_047282338.1:p.Leu93Pro, NP_001365088.1:p.Leu93Pro, XP_047282339.1:p.Leu93Pro, XP_047282346.1:p.Leu93Pro, XP_047282340.1:p.Leu93Pro, NP_001365089.1:p.Leu93Pro, XP_047282343.1:p.Leu93Pro

                        12.

                        rs1472547398 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          11:74930302 (GRCh38)
                          11:74641347 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:74930301:A:G
                          Gene:
                          XRRA1 (Varview), LOC107984352 (Varview)
                          Functional Consequence:
                          intron_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
                          HGVS:
                          NC_000011.10:g.74930302A>G, NC_000011.9:g.74641347A>G, NM_182969.4:c.398T>C, NM_182969.3:c.398T>C, NM_182969.2:c.398T>C, XM_011544763.3:c.422T>C, XM_011544763.2:c.422T>C, XM_011544763.1:c.422T>C, XM_005273770.3:c.-302T>C, XM_005273770.2:c.-302T>C, XM_005273770.1:c.-302T>C, XM_017017222.3:c.422T>C, XM_017017222.2:c.422T>C, XM_017017222.1:c.422T>C, XM_017017228.3:c.-302T>C, XM_017017228.2:c.-302T>C, XM_017017228.1:c.-302T>C, NM_001270381.3:c.-302T>C, NM_001270381.2:c.-302T>C, NM_001270381.1:c.-302T>C, XM_017017224.3:c.422T>C, XM_017017224.2:c.422T>C, XM_017017224.1:c.422T>C, NM_001270380.3:c.398T>C, NM_001270380.2:c.398T>C, NM_001270380.1:c.398T>C, XM_011544755.2:c.422T>C, XM_011544755.1:c.422T>C, XM_011544756.2:c.422T>C, XM_011544756.1:c.422T>C, XM_011544757.2:c.422T>C, XM_011544757.1:c.422T>C, XM_011544765.2:c.-302T>C, XM_011544765.1:c.-302T>C, XM_017017221.2:c.422T>C, XM_017017221.1:c.422T>C, XM_011544762.2:c.422T>C, XM_011544762.1:c.422T>C, NM_001378157.1:c.422T>C, NM_001378158.1:c.422T>C, XM_047426397.1:c.-302T>C, NM_001378165.1:c.-567T>C, NM_001378161.1:c.-302T>C, XM_047426386.1:c.422T>C, XM_047426382.1:c.398T>C, NM_001378166.1:c.-567T>C, NM_001378159.1:c.422T>C, NM_001378162.1:c.-302T>C, NM_001378174.1:c.-567T>C, XM_047426391.1:c.-302T>C, XM_047426400.1:c.-302T>C, NM_001378169.1:c.-469T>C, XM_047426393.1:c.-302T>C, NM_001378163.1:c.-302T>C, NM_001378160.1:c.422T>C, NM_001378164.1:c.-302T>C, NM_001378170.1:c.-302T>C, NM_001378175.1:c.-469T>C, XM_047426395.1:c.-302T>C, XM_047426396.1:c.-302T>C, NM_001378176.1:c.-469T>C, XM_047426385.1:c.-94T>C, NR_165434.1:n.560T>C, NR_165435.1:n.560T>C, NM_001378173.1:c.-302T>C, NM_001378172.1:c.-204T>C, NR_165436.1:n.492T>C, XM_047426389.1:c.-94T>C, NR_165437.1:n.492T>C, XM_047426403.1:c.-94T>C, NP_892014.1:p.Leu133Pro, XP_011543065.1:p.Leu141Pro, XP_016872711.1:p.Leu141Pro, XP_016872713.1:p.Leu141Pro, NP_001257309.1:p.Leu133Pro, XP_011543057.1:p.Leu141Pro, XP_011543058.1:p.Leu141Pro, XP_011543059.1:p.Leu141Pro, XP_016872710.1:p.Leu141Pro, XP_011543064.1:p.Leu141Pro, NP_001365086.1:p.Leu141Pro, NP_001365087.1:p.Leu141Pro, XP_047282342.1:p.Leu141Pro, XP_047282338.1:p.Leu133Pro, NP_001365088.1:p.Leu141Pro, NP_001365089.1:p.Leu141Pro

                          13.

                          rs1471596525 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            11:74936982 (GRCh38)
                            11:74648027 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:74936981:T:A
                            Gene:
                            XRRA1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000011.10:g.74936982T>A, NC_000011.9:g.74648027T>A, NM_182969.4:c.181A>T, NM_182969.3:c.181A>T, NM_182969.2:c.181A>T, XM_011544763.3:c.181A>T, XM_011544763.2:c.181A>T, XM_011544763.1:c.181A>T, XM_005273770.3:c.-543A>T, XM_005273770.2:c.-543A>T, XM_005273770.1:c.-543A>T, XM_017017222.3:c.181A>T, XM_017017222.2:c.181A>T, XM_017017222.1:c.181A>T, XM_017017228.3:c.-543A>T, XM_017017228.2:c.-543A>T, XM_017017228.1:c.-543A>T, NM_001270381.3:c.-543A>T, NM_001270381.2:c.-543A>T, NM_001270381.1:c.-543A>T, XM_017017224.3:c.181A>T, XM_017017224.2:c.181A>T, XM_017017224.1:c.181A>T, NM_001270380.3:c.181A>T, NM_001270380.2:c.181A>T, NM_001270380.1:c.181A>T, XM_011544755.2:c.181A>T, XM_011544755.1:c.181A>T, XM_011544756.2:c.181A>T, XM_011544756.1:c.181A>T, XM_011544758.2:c.181A>T, XM_011544758.1:c.181A>T, XM_011544757.2:c.181A>T, XM_011544757.1:c.181A>T, XM_011544765.2:c.-519A>T, XM_011544765.1:c.-519A>T, XM_011544759.2:c.181A>T, XM_011544759.1:c.181A>T, XM_017017221.2:c.181A>T, XM_017017221.1:c.181A>T, XM_011544761.2:c.181A>T, XM_011544761.1:c.181A>T, XM_011544762.2:c.181A>T, XM_011544762.1:c.181A>T, NM_001378157.1:c.181A>T, NM_001378158.1:c.181A>T, XM_047426397.1:c.-543A>T, NM_001378165.1:c.-808A>T, NM_001378161.1:c.-543A>T, XM_047426386.1:c.181A>T, XM_047426382.1:c.181A>T, NM_001378166.1:c.-808A>T, NM_001378159.1:c.181A>T, XM_047426388.1:c.-372A>T, NM_001378162.1:c.-543A>T, NM_001378174.1:c.-808A>T, XM_047426391.1:c.-543A>T, XM_047426383.1:c.181A>T, XM_047426400.1:c.-543A>T, XM_047426390.1:c.181A>T, NM_001378169.1:c.-710A>T, XM_047426392.1:c.-300A>T, XM_047426393.1:c.-543A>T, XM_047426384.1:c.181A>T, NM_001378163.1:c.-543A>T, NM_001378160.1:c.181A>T, NM_001378164.1:c.-519A>T, XM_047426394.1:c.-372A>T, NM_001378170.1:c.-543A>T, NM_001378175.1:c.-710A>T, XM_047426395.1:c.-543A>T, XM_047426387.1:c.181A>T, XM_047426396.1:c.-519A>T, NM_001378176.1:c.-710A>T, XM_047426405.1:c.-372A>T, NM_001378167.1:c.-565A>T, NR_165434.1:n.319A>T, NR_165435.1:n.319A>T, XM_047426399.1:c.-372A>T, NM_001378173.1:c.-543A>T, NM_001378172.1:c.-445A>T, NR_165436.1:n.251A>T, XM_047426401.1:c.-300A>T, XM_047426402.1:c.-372A>T, XM_047426406.1:c.-372A>T, XM_047426404.1:c.-300A>T, NM_001378168.1:c.-166A>T, XM_047426407.1:c.-300A>T, XM_047426408.1:c.-372A>T, NR_165437.1:n.251A>T, NM_001378171.1:c.-166A>T, NR_165438.1:n.251A>T, NR_165439.1:n.251A>T, NP_892014.1:p.Ser61Cys, XP_011543065.1:p.Ser61Cys, XP_016872711.1:p.Ser61Cys, XP_016872713.1:p.Ser61Cys, NP_001257309.1:p.Ser61Cys, XP_011543057.1:p.Ser61Cys, XP_011543058.1:p.Ser61Cys, XP_011543060.1:p.Ser61Cys, XP_011543059.1:p.Ser61Cys, XP_011543061.1:p.Ser61Cys, XP_016872710.1:p.Ser61Cys, XP_011543063.1:p.Ser61Cys, XP_011543064.1:p.Ser61Cys, NP_001365086.1:p.Ser61Cys, NP_001365087.1:p.Ser61Cys, XP_047282342.1:p.Ser61Cys, XP_047282338.1:p.Ser61Cys, NP_001365088.1:p.Ser61Cys, XP_047282339.1:p.Ser61Cys, XP_047282346.1:p.Ser61Cys, XP_047282340.1:p.Ser61Cys, NP_001365089.1:p.Ser61Cys, XP_047282343.1:p.Ser61Cys

                            14.

                            rs1468918011 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              11:74940790 (GRCh38)
                              11:74651835 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:74940789:T:C
                              Gene:
                              XRRA1 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000011.10:g.74940790T>C, NC_000011.9:g.74651835T>C, NM_182969.4:c.89A>G, NM_182969.3:c.89A>G, NM_182969.2:c.89A>G, XM_011544763.3:c.89A>G, XM_011544763.2:c.89A>G, XM_011544763.1:c.89A>G, XM_017017222.3:c.89A>G, XM_017017222.2:c.89A>G, XM_017017222.1:c.89A>G, XM_017017224.3:c.89A>G, XM_017017224.2:c.89A>G, XM_017017224.1:c.89A>G, NM_001270380.3:c.89A>G, NM_001270380.2:c.89A>G, NM_001270380.1:c.89A>G, XM_011544755.2:c.89A>G, XM_011544755.1:c.89A>G, XM_011544756.2:c.89A>G, XM_011544756.1:c.89A>G, XM_011544758.2:c.89A>G, XM_011544758.1:c.89A>G, XM_011544757.2:c.89A>G, XM_011544757.1:c.89A>G, XM_011544759.2:c.89A>G, XM_011544759.1:c.89A>G, XM_017017221.2:c.89A>G, XM_017017221.1:c.89A>G, XM_011544761.2:c.89A>G, XM_011544761.1:c.89A>G, XM_011544762.2:c.89A>G, XM_011544762.1:c.89A>G, NM_001378157.1:c.89A>G, NM_001378158.1:c.89A>G, XM_047426386.1:c.89A>G, XM_047426382.1:c.89A>G, NM_001378159.1:c.89A>G, XM_047426383.1:c.89A>G, XM_047426390.1:c.89A>G, XM_047426384.1:c.89A>G, NM_001378160.1:c.89A>G, XM_047426387.1:c.89A>G, NP_892014.1:p.Glu30Gly, XP_011543065.1:p.Glu30Gly, XP_016872711.1:p.Glu30Gly, XP_016872713.1:p.Glu30Gly, NP_001257309.1:p.Glu30Gly, XP_011543057.1:p.Glu30Gly, XP_011543058.1:p.Glu30Gly, XP_011543060.1:p.Glu30Gly, XP_011543059.1:p.Glu30Gly, XP_011543061.1:p.Glu30Gly, XP_016872710.1:p.Glu30Gly, XP_011543063.1:p.Glu30Gly, XP_011543064.1:p.Glu30Gly, NP_001365086.1:p.Glu30Gly, NP_001365087.1:p.Glu30Gly, XP_047282342.1:p.Glu30Gly, XP_047282338.1:p.Glu30Gly, NP_001365088.1:p.Glu30Gly, XP_047282339.1:p.Glu30Gly, XP_047282346.1:p.Glu30Gly, XP_047282340.1:p.Glu30Gly, NP_001365089.1:p.Glu30Gly, XP_047282343.1:p.Glu30Gly

                              15.

                              rs1466857660 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                11:74851110 (GRCh38)
                                11:74562155 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:74851109:A:C
                                Gene:
                                XRRA1 (Varview)
                                Functional Consequence:
                                intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000007/1 (GnomAD)
                                C=0.000011/3 (TOPMED)
                                HGVS:
                                NC_000011.10:g.74851110A>C, NC_000011.9:g.74562155A>C, NM_182969.4:c.1334T>G, NM_182969.3:c.1334T>G, NM_182969.2:c.1334T>G, XM_011544763.3:c.1358T>G, XM_011544763.2:c.1358T>G, XM_011544763.1:c.1358T>G, XM_005273770.3:c.635T>G, XM_005273770.2:c.635T>G, XM_005273770.1:c.635T>G, XM_017017222.3:c.1232T>G, XM_017017222.2:c.1232T>G, XM_017017222.1:c.1232T>G, XM_017017228.3:c.635T>G, XM_017017228.2:c.635T>G, XM_017017228.1:c.635T>G, NM_001270381.3:c.509T>G, NM_001270381.2:c.509T>G, NM_001270381.1:c.509T>G, XM_017017224.3:c.1097T>G, XM_017017224.2:c.1097T>G, XM_017017224.1:c.1097T>G, NM_001270380.3:c.1073T>G, NM_001270380.2:c.1073T>G, NM_001270380.1:c.1073T>G, XM_011544755.2:c.1313T>G, XM_011544755.1:c.1313T>G, XM_011544756.2:c.1232T>G, XM_011544756.1:c.1232T>G, XM_011544758.2:c.1187T>G, XM_011544758.1:c.1187T>G, XM_011544757.2:c.1187T>G, XM_011544757.1:c.1187T>G, XM_011544765.2:c.635T>G, XM_011544765.1:c.635T>G, XM_011544759.2:c.1163T>G, XM_011544759.1:c.1163T>G, XM_011544761.2:c.1115T>G, XM_011544761.1:c.1115T>G, XM_011544762.2:c.1097T>G, XM_011544762.1:c.1097T>G, NM_001378157.1:c.1358T>G, NM_001378158.1:c.1313T>G, XM_047426397.1:c.509T>G, NM_001378165.1:c.203T>G, NM_001378161.1:c.464T>G, XM_047426386.1:c.1187T>G, XM_047426382.1:c.1073T>G, NM_001378166.1:c.203T>G, XM_047426388.1:c.635T>G, NM_001378162.1:c.374T>G, NM_001378174.1:c.203T>G, XM_047426400.1:c.509T>G, XM_047426390.1:c.1061T>G, NM_001378169.1:c.158T>G, XM_047426392.1:c.635T>G, XM_047426393.1:c.374T>G, XM_047426384.1:c.926T>G, XM_047426394.1:c.509T>G, NM_001378170.1:c.374T>G, NM_001378175.1:c.203T>G, XM_047426387.1:c.854T>G, NM_001378176.1:c.203T>G, XM_047426385.1:c.869T>G, XM_047426405.1:c.509T>G, NM_001378167.1:c.203T>G, NR_165435.1:n.1111T>G, XM_047426399.1:c.374T>G, NR_165436.1:n.1043T>G, XM_047426401.1:c.374T>G, XM_047426389.1:c.743T>G, XM_047426406.1:c.374T>G, NM_001378168.1:c.509T>G, XM_047426407.1:c.374T>G, NR_165437.1:n.763T>G, NM_001378171.1:c.374T>G, XM_047426403.1:c.398T>G, NP_892014.1:p.Met445Arg, XP_011543065.1:p.Met453Arg, XP_005273827.1:p.Met212Arg, XP_016872711.1:p.Met411Arg, XP_016872717.1:p.Met212Arg, NP_001257310.1:p.Met170Arg, XP_016872713.1:p.Met366Arg, NP_001257309.1:p.Met358Arg, XP_011543057.1:p.Met438Arg, XP_011543058.1:p.Met411Arg, XP_011543060.1:p.Met396Arg, XP_011543059.1:p.Met396Arg, XP_011543067.1:p.Met212Arg, XP_011543061.1:p.Met388Arg, XP_011543063.1:p.Met372Arg, XP_011543064.1:p.Met366Arg, NP_001365086.1:p.Met453Arg, NP_001365087.1:p.Met438Arg, XP_047282353.1:p.Met170Arg, NP_001365094.1:p.Met68Arg, NP_001365090.1:p.Met155Arg, XP_047282342.1:p.Met396Arg, XP_047282338.1:p.Met358Arg, NP_001365095.1:p.Met68Arg, XP_047282344.1:p.Met212Arg, NP_001365091.1:p.Met125Arg, NP_001365103.1:p.Met68Arg, XP_047282356.1:p.Met170Arg, XP_047282346.1:p.Met354Arg, NP_001365098.1:p.Met53Arg, XP_047282348.1:p.Met212Arg, XP_047282349.1:p.Met125Arg, XP_047282340.1:p.Met309Arg, XP_047282350.1:p.Met170Arg, NP_001365099.1:p.Met125Arg, NP_001365104.1:p.Met68Arg, XP_047282343.1:p.Met285Arg, NP_001365105.1:p.Met68Arg, XP_047282341.1:p.Met290Arg, XP_047282361.1:p.Met170Arg, NP_001365096.1:p.Met68Arg, XP_047282355.1:p.Met125Arg, XP_047282357.1:p.Met125Arg, XP_047282345.1:p.Met248Arg, XP_047282362.1:p.Met125Arg, NP_001365097.1:p.Met170Arg, XP_047282363.1:p.Met125Arg, NP_001365100.1:p.Met125Arg, XP_047282359.1:p.Met133Arg

                                16.

                                rs1466001528 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  11:74921311 (GRCh38)
                                  11:74632356 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:74921310:C:G
                                  Gene:
                                  XRRA1 (Varview)
                                  Functional Consequence:
                                  missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000011.10:g.74921311C>G, NC_000011.9:g.74632356C>G, NM_182969.4:c.535G>C, NM_182969.3:c.535G>C, NM_182969.2:c.535G>C, XM_011544763.3:c.559G>C, XM_011544763.2:c.559G>C, XM_011544763.1:c.559G>C, XM_005273770.3:c.-165G>C, XM_005273770.2:c.-165G>C, XM_005273770.1:c.-165G>C, XM_017017222.3:c.559G>C, XM_017017222.2:c.559G>C, XM_017017222.1:c.559G>C, XM_017017228.3:c.-165G>C, XM_017017228.2:c.-165G>C, XM_017017228.1:c.-165G>C, NM_001270381.3:c.-165G>C, NM_001270381.2:c.-165G>C, NM_001270381.1:c.-165G>C, XM_017017224.3:c.559G>C, XM_017017224.2:c.559G>C, XM_017017224.1:c.559G>C, NM_001270380.3:c.535G>C, NM_001270380.2:c.535G>C, NM_001270380.1:c.535G>C, XM_011544755.2:c.559G>C, XM_011544755.1:c.559G>C, XM_011544756.2:c.559G>C, XM_011544756.1:c.559G>C, XM_011544758.2:c.388G>C, XM_011544758.1:c.388G>C, XM_011544757.2:c.559G>C, XM_011544757.1:c.559G>C, XM_011544765.2:c.-165G>C, XM_011544765.1:c.-165G>C, XM_011544759.2:c.364G>C, XM_011544759.1:c.364G>C, XM_017017221.2:c.559G>C, XM_017017221.1:c.559G>C, XM_011544761.2:c.316G>C, XM_011544761.1:c.316G>C, XM_011544762.2:c.559G>C, XM_011544762.1:c.559G>C, NM_001378157.1:c.559G>C, NM_001378158.1:c.559G>C, XM_047426397.1:c.-165G>C, NM_001378165.1:c.-430G>C, NM_001378161.1:c.-165G>C, XM_047426386.1:c.559G>C, XM_047426382.1:c.535G>C, NM_001378166.1:c.-430G>C, NM_001378159.1:c.559G>C, XM_047426388.1:c.-165G>C, NM_001378162.1:c.-165G>C, NM_001378174.1:c.-430G>C, XM_047426391.1:c.-165G>C, XM_047426383.1:c.388G>C, XM_047426400.1:c.-165G>C, XM_047426390.1:c.388G>C, NM_001378169.1:c.-430G>C, XM_047426392.1:c.-165G>C, XM_047426393.1:c.-165G>C, XM_047426384.1:c.388G>C, NM_001378163.1:c.-165G>C, NM_001378160.1:c.559G>C, NM_001378164.1:c.-165G>C, XM_047426394.1:c.-165G>C, NM_001378170.1:c.-165G>C, NM_001378175.1:c.-430G>C, XM_047426395.1:c.-165G>C, XM_047426387.1:c.316G>C, XM_047426396.1:c.-165G>C, NM_001378176.1:c.-430G>C, XM_047426385.1:c.-55G>C, XM_047426405.1:c.-165G>C, NM_001378167.1:c.-430G>C, NR_165434.1:n.599G>C, NR_165435.1:n.697G>C, XM_047426399.1:c.-165G>C, NM_001378173.1:c.-165G>C, NM_001378172.1:c.-165G>C, NR_165436.1:n.629G>C, XM_047426401.1:c.-165G>C, XM_047426389.1:c.-55G>C, XM_047426402.1:c.-165G>C, XM_047426406.1:c.-165G>C, XM_047426404.1:c.-165G>C, XM_047426407.1:c.-165G>C, XM_047426408.1:c.-165G>C, NR_165437.1:n.531G>C, NR_165438.1:n.386G>C, XM_047426403.1:c.-55G>C, NR_165439.1:n.386G>C, NP_892014.1:p.Ala179Pro, XP_011543065.1:p.Ala187Pro, XP_016872711.1:p.Ala187Pro, XP_016872713.1:p.Ala187Pro, NP_001257309.1:p.Ala179Pro, XP_011543057.1:p.Ala187Pro, XP_011543058.1:p.Ala187Pro, XP_011543060.1:p.Ala130Pro, XP_011543059.1:p.Ala187Pro, XP_011543061.1:p.Ala122Pro, XP_016872710.1:p.Ala187Pro, XP_011543063.1:p.Ala106Pro, XP_011543064.1:p.Ala187Pro, NP_001365086.1:p.Ala187Pro, NP_001365087.1:p.Ala187Pro, XP_047282342.1:p.Ala187Pro, XP_047282338.1:p.Ala179Pro, NP_001365088.1:p.Ala187Pro, XP_047282339.1:p.Ala130Pro, XP_047282346.1:p.Ala130Pro, XP_047282340.1:p.Ala130Pro, NP_001365089.1:p.Ala187Pro, XP_047282343.1:p.Ala106Pro

                                  17.

                                  rs1461237891 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    11:74933871 (GRCh38)
                                    11:74644916 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:74933870:A:G
                                    Gene:
                                    XRRA1 (Varview), LOC107984352 (Varview)
                                    Functional Consequence:
                                    missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000011.10:g.74933871A>G, NC_000011.9:g.74644916A>G, NM_182969.4:c.281T>C, NM_182969.3:c.281T>C, NM_182969.2:c.281T>C, XM_011544763.3:c.281T>C, XM_011544763.2:c.281T>C, XM_011544763.1:c.281T>C, XM_005273770.3:c.-443T>C, XM_005273770.2:c.-443T>C, XM_005273770.1:c.-443T>C, XM_017017222.3:c.281T>C, XM_017017222.2:c.281T>C, XM_017017222.1:c.281T>C, XM_017017228.3:c.-443T>C, XM_017017228.2:c.-443T>C, XM_017017228.1:c.-443T>C, NM_001270381.3:c.-443T>C, NM_001270381.2:c.-443T>C, NM_001270381.1:c.-443T>C, XM_017017224.3:c.281T>C, XM_017017224.2:c.281T>C, XM_017017224.1:c.281T>C, NM_001270380.3:c.281T>C, NM_001270380.2:c.281T>C, NM_001270380.1:c.281T>C, XM_011544755.2:c.281T>C, XM_011544755.1:c.281T>C, XM_011544756.2:c.281T>C, XM_011544756.1:c.281T>C, XM_011544758.2:c.281T>C, XM_011544758.1:c.281T>C, XM_011544757.2:c.281T>C, XM_011544757.1:c.281T>C, XM_011544765.2:c.-419T>C, XM_011544765.1:c.-419T>C, XM_011544759.2:c.281T>C, XM_011544759.1:c.281T>C, XM_017017221.2:c.281T>C, XM_017017221.1:c.281T>C, XM_011544762.2:c.281T>C, XM_011544762.1:c.281T>C, NM_001378157.1:c.281T>C, NM_001378158.1:c.281T>C, XM_047426397.1:c.-443T>C, NM_001378165.1:c.-708T>C, NM_001378161.1:c.-443T>C, XM_047426386.1:c.281T>C, XM_047426382.1:c.281T>C, NM_001378166.1:c.-708T>C, NM_001378159.1:c.281T>C, XM_047426388.1:c.-272T>C, NM_001378162.1:c.-443T>C, NM_001378174.1:c.-708T>C, XM_047426391.1:c.-443T>C, XM_047426383.1:c.281T>C, XM_047426400.1:c.-443T>C, XM_047426390.1:c.281T>C, NM_001378169.1:c.-610T>C, XM_047426393.1:c.-443T>C, XM_047426384.1:c.281T>C, NM_001378163.1:c.-443T>C, NM_001378160.1:c.281T>C, NM_001378164.1:c.-419T>C, XM_047426394.1:c.-272T>C, NM_001378170.1:c.-443T>C, NM_001378175.1:c.-610T>C, XM_047426395.1:c.-443T>C, XM_047426396.1:c.-419T>C, NM_001378176.1:c.-610T>C, XM_047426405.1:c.-272T>C, NR_165434.1:n.419T>C, NR_165435.1:n.419T>C, XM_047426399.1:c.-272T>C, NM_001378173.1:c.-443T>C, NM_001378172.1:c.-345T>C, NR_165436.1:n.351T>C, XM_047426402.1:c.-272T>C, XM_047426406.1:c.-272T>C, XM_047426408.1:c.-272T>C, NR_165437.1:n.351T>C, NP_892014.1:p.Leu94Pro, XP_011543065.1:p.Leu94Pro, XP_016872711.1:p.Leu94Pro, XP_016872713.1:p.Leu94Pro, NP_001257309.1:p.Leu94Pro, XP_011543057.1:p.Leu94Pro, XP_011543058.1:p.Leu94Pro, XP_011543060.1:p.Leu94Pro, XP_011543059.1:p.Leu94Pro, XP_011543061.1:p.Leu94Pro, XP_016872710.1:p.Leu94Pro, XP_011543064.1:p.Leu94Pro, NP_001365086.1:p.Leu94Pro, NP_001365087.1:p.Leu94Pro, XP_047282342.1:p.Leu94Pro, XP_047282338.1:p.Leu94Pro, NP_001365088.1:p.Leu94Pro, XP_047282339.1:p.Leu94Pro, XP_047282346.1:p.Leu94Pro, XP_047282340.1:p.Leu94Pro, NP_001365089.1:p.Leu94Pro

                                    18.

                                    rs1457971839 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      11:74907155 (GRCh38)
                                      11:74618200 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:74907154:C:G
                                      Gene:
                                      XRRA1 (Varview)
                                      Functional Consequence:
                                      missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000011.10:g.74907155C>G, NC_000011.9:g.74618200C>G, NM_182969.4:c.751G>C, NM_182969.3:c.751G>C, NM_182969.2:c.751G>C, XM_011544763.3:c.775G>C, XM_011544763.2:c.775G>C, XM_011544763.1:c.775G>C, XM_005273770.3:c.52G>C, XM_005273770.2:c.52G>C, XM_005273770.1:c.52G>C, XM_017017222.3:c.775G>C, XM_017017222.2:c.775G>C, XM_017017222.1:c.775G>C, XM_017017228.3:c.52G>C, XM_017017228.2:c.52G>C, XM_017017228.1:c.52G>C, NM_001270381.3:c.52G>C, NM_001270381.2:c.52G>C, NM_001270381.1:c.52G>C, XM_017017224.3:c.775G>C, XM_017017224.2:c.775G>C, XM_017017224.1:c.775G>C, NM_001270380.3:c.751G>C, NM_001270380.2:c.751G>C, NM_001270380.1:c.751G>C, XM_011544755.2:c.775G>C, XM_011544755.1:c.775G>C, XM_011544756.2:c.775G>C, XM_011544756.1:c.775G>C, XM_011544758.2:c.604G>C, XM_011544758.1:c.604G>C, XM_011544757.2:c.775G>C, XM_011544757.1:c.775G>C, XM_011544765.2:c.52G>C, XM_011544765.1:c.52G>C, XM_011544759.2:c.580G>C, XM_011544759.1:c.580G>C, XM_017017221.2:c.775G>C, XM_017017221.1:c.775G>C, XM_011544761.2:c.532G>C, XM_011544761.1:c.532G>C, XM_011544762.2:c.775G>C, XM_011544762.1:c.775G>C, NM_001378157.1:c.775G>C, NM_001378158.1:c.775G>C, XM_047426397.1:c.52G>C, NM_001378165.1:c.-214G>C, NM_001378161.1:c.52G>C, XM_047426386.1:c.775G>C, XM_047426382.1:c.751G>C, NM_001378166.1:c.-214G>C, NM_001378159.1:c.775G>C, XM_047426388.1:c.52G>C, NM_001378162.1:c.52G>C, NM_001378174.1:c.-214G>C, XM_047426391.1:c.52G>C, XM_047426383.1:c.604G>C, XM_047426400.1:c.52G>C, XM_047426390.1:c.604G>C, NM_001378169.1:c.-214G>C, XM_047426392.1:c.52G>C, XM_047426393.1:c.52G>C, XM_047426384.1:c.604G>C, NM_001378163.1:c.52G>C, NM_001378160.1:c.775G>C, NM_001378164.1:c.52G>C, XM_047426394.1:c.52G>C, NM_001378170.1:c.52G>C, NM_001378175.1:c.-214G>C, XM_047426395.1:c.52G>C, XM_047426387.1:c.532G>C, XM_047426396.1:c.52G>C, NM_001378176.1:c.-214G>C, XM_047426385.1:c.286G>C, XM_047426405.1:c.52G>C, NM_001378167.1:c.-214G>C, NR_165434.1:n.815G>C, NR_165435.1:n.913G>C, XM_047426399.1:c.52G>C, NM_001378173.1:c.52G>C, NM_001378172.1:c.52G>C, NR_165436.1:n.845G>C, XM_047426401.1:c.52G>C, XM_047426389.1:c.286G>C, XM_047426402.1:c.52G>C, XM_047426406.1:c.52G>C, XM_047426404.1:c.52G>C, NM_001378168.1:c.52G>C, XM_047426407.1:c.52G>C, XM_047426408.1:c.52G>C, NM_001378171.1:c.52G>C, NP_892014.1:p.Gly251Arg, XP_011543065.1:p.Gly259Arg, XP_005273827.1:p.Gly18Arg, XP_016872711.1:p.Gly259Arg, XP_016872717.1:p.Gly18Arg, NP_001257310.1:p.Gly18Arg, XP_016872713.1:p.Gly259Arg, NP_001257309.1:p.Gly251Arg, XP_011543057.1:p.Gly259Arg, XP_011543058.1:p.Gly259Arg, XP_011543060.1:p.Gly202Arg, XP_011543059.1:p.Gly259Arg, XP_011543067.1:p.Gly18Arg, XP_011543061.1:p.Gly194Arg, XP_016872710.1:p.Gly259Arg, XP_011543063.1:p.Gly178Arg, XP_011543064.1:p.Gly259Arg, NP_001365086.1:p.Gly259Arg, NP_001365087.1:p.Gly259Arg, XP_047282353.1:p.Gly18Arg, NP_001365090.1:p.Gly18Arg, XP_047282342.1:p.Gly259Arg, XP_047282338.1:p.Gly251Arg, NP_001365088.1:p.Gly259Arg, XP_047282344.1:p.Gly18Arg, NP_001365091.1:p.Gly18Arg, XP_047282347.1:p.Gly18Arg, XP_047282339.1:p.Gly202Arg, XP_047282356.1:p.Gly18Arg, XP_047282346.1:p.Gly202Arg, XP_047282348.1:p.Gly18Arg, XP_047282349.1:p.Gly18Arg, XP_047282340.1:p.Gly202Arg, NP_001365092.1:p.Gly18Arg, NP_001365089.1:p.Gly259Arg, NP_001365093.1:p.Gly18Arg, XP_047282350.1:p.Gly18Arg, NP_001365099.1:p.Gly18Arg, XP_047282351.1:p.Gly18Arg, XP_047282343.1:p.Gly178Arg, XP_047282352.1:p.Gly18Arg, XP_047282341.1:p.Gly96Arg, XP_047282361.1:p.Gly18Arg, XP_047282355.1:p.Gly18Arg, NP_001365102.1:p.Gly18Arg, NP_001365101.1:p.Gly18Arg, XP_047282357.1:p.Gly18Arg, XP_047282345.1:p.Gly96Arg, XP_047282358.1:p.Gly18Arg, XP_047282362.1:p.Gly18Arg, XP_047282360.1:p.Gly18Arg, NP_001365097.1:p.Gly18Arg, XP_047282363.1:p.Gly18Arg, XP_047282364.1:p.Gly18Arg, NP_001365100.1:p.Gly18Arg

                                      19.

                                      rs1454903236 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G [Show Flanks]
                                        Chromosome:
                                        11:74937047 (GRCh38)
                                        11:74648092 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:74937046:A:C,NC_000011.10:74937046:A:G
                                        Gene:
                                        XRRA1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000011.10:g.74937047A>C, NC_000011.10:g.74937047A>G, NC_000011.9:g.74648092A>C, NC_000011.9:g.74648092A>G, NM_182969.4:c.116T>G, NM_182969.4:c.116T>C, NM_182969.3:c.116T>G, NM_182969.3:c.116T>C, NM_182969.2:c.116T>G, NM_182969.2:c.116T>C, XM_011544763.3:c.116T>G, XM_011544763.3:c.116T>C, XM_011544763.2:c.116T>G, XM_011544763.2:c.116T>C, XM_011544763.1:c.116T>G, XM_011544763.1:c.116T>C, XM_005273770.3:c.-608T>G, XM_005273770.3:c.-608T>C, XM_005273770.2:c.-608T>G, XM_005273770.2:c.-608T>C, XM_005273770.1:c.-608T>G, XM_005273770.1:c.-608T>C, XM_017017222.3:c.116T>G, XM_017017222.3:c.116T>C, XM_017017222.2:c.116T>G, XM_017017222.2:c.116T>C, XM_017017222.1:c.116T>G, XM_017017222.1:c.116T>C, XM_017017228.3:c.-608T>G, XM_017017228.3:c.-608T>C, XM_017017228.2:c.-608T>G, XM_017017228.2:c.-608T>C, XM_017017228.1:c.-608T>G, XM_017017228.1:c.-608T>C, NM_001270381.3:c.-608T>G, NM_001270381.3:c.-608T>C, NM_001270381.2:c.-608T>G, NM_001270381.2:c.-608T>C, NM_001270381.1:c.-608T>G, NM_001270381.1:c.-608T>C, XM_017017224.3:c.116T>G, XM_017017224.3:c.116T>C, XM_017017224.2:c.116T>G, XM_017017224.2:c.116T>C, XM_017017224.1:c.116T>G, XM_017017224.1:c.116T>C, NM_001270380.3:c.116T>G, NM_001270380.3:c.116T>C, NM_001270380.2:c.116T>G, NM_001270380.2:c.116T>C, NM_001270380.1:c.116T>G, NM_001270380.1:c.116T>C, XM_011544755.2:c.116T>G, XM_011544755.2:c.116T>C, XM_011544755.1:c.116T>G, XM_011544755.1:c.116T>C, XM_011544756.2:c.116T>G, XM_011544756.2:c.116T>C, XM_011544756.1:c.116T>G, XM_011544756.1:c.116T>C, XM_011544758.2:c.116T>G, XM_011544758.2:c.116T>C, XM_011544758.1:c.116T>G, XM_011544758.1:c.116T>C, XM_011544757.2:c.116T>G, XM_011544757.2:c.116T>C, XM_011544757.1:c.116T>G, XM_011544757.1:c.116T>C, XM_011544765.2:c.-584T>G, XM_011544765.2:c.-584T>C, XM_011544765.1:c.-584T>G, XM_011544765.1:c.-584T>C, XM_011544759.2:c.116T>G, XM_011544759.2:c.116T>C, XM_011544759.1:c.116T>G, XM_011544759.1:c.116T>C, XM_017017221.2:c.116T>G, XM_017017221.2:c.116T>C, XM_017017221.1:c.116T>G, XM_017017221.1:c.116T>C, XM_011544761.2:c.116T>G, XM_011544761.2:c.116T>C, XM_011544761.1:c.116T>G, XM_011544761.1:c.116T>C, XM_011544762.2:c.116T>G, XM_011544762.2:c.116T>C, XM_011544762.1:c.116T>G, XM_011544762.1:c.116T>C, NM_001378157.1:c.116T>G, NM_001378157.1:c.116T>C, NM_001378158.1:c.116T>G, NM_001378158.1:c.116T>C, XM_047426397.1:c.-608T>G, XM_047426397.1:c.-608T>C, NM_001378165.1:c.-873T>G, NM_001378165.1:c.-873T>C, NM_001378161.1:c.-608T>G, NM_001378161.1:c.-608T>C, XM_047426386.1:c.116T>G, XM_047426386.1:c.116T>C, XM_047426382.1:c.116T>G, XM_047426382.1:c.116T>C, NM_001378166.1:c.-873T>G, NM_001378166.1:c.-873T>C, NM_001378159.1:c.116T>G, NM_001378159.1:c.116T>C, XM_047426388.1:c.-437T>G, XM_047426388.1:c.-437T>C, NM_001378162.1:c.-608T>G, NM_001378162.1:c.-608T>C, NM_001378174.1:c.-873T>G, NM_001378174.1:c.-873T>C, XM_047426391.1:c.-608T>G, XM_047426391.1:c.-608T>C, XM_047426383.1:c.116T>G, XM_047426383.1:c.116T>C, XM_047426400.1:c.-608T>G, XM_047426400.1:c.-608T>C, XM_047426390.1:c.116T>G, XM_047426390.1:c.116T>C, NM_001378169.1:c.-775T>G, NM_001378169.1:c.-775T>C, XM_047426392.1:c.-365T>G, XM_047426392.1:c.-365T>C, XM_047426393.1:c.-608T>G, XM_047426393.1:c.-608T>C, XM_047426384.1:c.116T>G, XM_047426384.1:c.116T>C, NM_001378163.1:c.-608T>G, NM_001378163.1:c.-608T>C, NM_001378160.1:c.116T>G, NM_001378160.1:c.116T>C, NM_001378164.1:c.-584T>G, NM_001378164.1:c.-584T>C, XM_047426394.1:c.-437T>G, XM_047426394.1:c.-437T>C, NM_001378170.1:c.-608T>G, NM_001378170.1:c.-608T>C, NM_001378175.1:c.-775T>G, NM_001378175.1:c.-775T>C, XM_047426395.1:c.-608T>G, XM_047426395.1:c.-608T>C, XM_047426387.1:c.116T>G, XM_047426387.1:c.116T>C, XM_047426396.1:c.-584T>G, XM_047426396.1:c.-584T>C, NM_001378176.1:c.-775T>G, NM_001378176.1:c.-775T>C, XM_047426405.1:c.-437T>G, XM_047426405.1:c.-437T>C, NM_001378167.1:c.-630T>G, NM_001378167.1:c.-630T>C, NR_165434.1:n.254T>G, NR_165434.1:n.254T>C, NR_165435.1:n.254T>G, NR_165435.1:n.254T>C, XM_047426399.1:c.-437T>G, XM_047426399.1:c.-437T>C, NM_001378173.1:c.-608T>G, NM_001378173.1:c.-608T>C, NM_001378172.1:c.-510T>G, NM_001378172.1:c.-510T>C, NR_165436.1:n.186T>G, NR_165436.1:n.186T>C, XM_047426401.1:c.-365T>G, XM_047426401.1:c.-365T>C, XM_047426402.1:c.-437T>G, XM_047426402.1:c.-437T>C, XM_047426406.1:c.-437T>G, XM_047426406.1:c.-437T>C, XM_047426404.1:c.-365T>G, XM_047426404.1:c.-365T>C, NM_001378168.1:c.-231T>G, NM_001378168.1:c.-231T>C, XM_047426407.1:c.-365T>G, XM_047426407.1:c.-365T>C, XM_047426408.1:c.-437T>G, XM_047426408.1:c.-437T>C, NR_165437.1:n.186T>G, NR_165437.1:n.186T>C, NM_001378171.1:c.-231T>G, NM_001378171.1:c.-231T>C, NR_165438.1:n.186T>G, NR_165438.1:n.186T>C, NR_165439.1:n.186T>G, NR_165439.1:n.186T>C, NP_892014.1:p.Val39Gly, NP_892014.1:p.Val39Ala, XP_011543065.1:p.Val39Gly, XP_011543065.1:p.Val39Ala, XP_016872711.1:p.Val39Gly, XP_016872711.1:p.Val39Ala, XP_016872713.1:p.Val39Gly, XP_016872713.1:p.Val39Ala, NP_001257309.1:p.Val39Gly, NP_001257309.1:p.Val39Ala, XP_011543057.1:p.Val39Gly, XP_011543057.1:p.Val39Ala, XP_011543058.1:p.Val39Gly, XP_011543058.1:p.Val39Ala, XP_011543060.1:p.Val39Gly, XP_011543060.1:p.Val39Ala, XP_011543059.1:p.Val39Gly, XP_011543059.1:p.Val39Ala, XP_011543061.1:p.Val39Gly, XP_011543061.1:p.Val39Ala, XP_016872710.1:p.Val39Gly, XP_016872710.1:p.Val39Ala, XP_011543063.1:p.Val39Gly, XP_011543063.1:p.Val39Ala, XP_011543064.1:p.Val39Gly, XP_011543064.1:p.Val39Ala, NP_001365086.1:p.Val39Gly, NP_001365086.1:p.Val39Ala, NP_001365087.1:p.Val39Gly, NP_001365087.1:p.Val39Ala, XP_047282342.1:p.Val39Gly, XP_047282342.1:p.Val39Ala, XP_047282338.1:p.Val39Gly, XP_047282338.1:p.Val39Ala, NP_001365088.1:p.Val39Gly, NP_001365088.1:p.Val39Ala, XP_047282339.1:p.Val39Gly, XP_047282339.1:p.Val39Ala, XP_047282346.1:p.Val39Gly, XP_047282346.1:p.Val39Ala, XP_047282340.1:p.Val39Gly, XP_047282340.1:p.Val39Ala, NP_001365089.1:p.Val39Gly, NP_001365089.1:p.Val39Ala, XP_047282343.1:p.Val39Gly, XP_047282343.1:p.Val39Ala

                                        20.

                                        rs1453664830 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          CTC>- [Show Flanks]
                                          Chromosome:
                                          11:74906381 (GRCh38)
                                          11:74617426 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:74906380:CTC:
                                          Gene:
                                          XRRA1 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant,coding_sequence_variant,inframe_deletion,5_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          -=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          -=0.000008/2 (GnomAD_exomes)
                                          -=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000011.10:g.74906381_74906383del, NC_000011.9:g.74617426_74617428del, NM_182969.4:c.835_837del, NM_182969.3:c.835_837del, NM_182969.2:c.835_837del, XM_011544763.3:c.859_861del, XM_011544763.2:c.859_861del, XM_011544763.1:c.859_861del, XM_005273770.3:c.136_138del, XM_005273770.2:c.136_138del, XM_005273770.1:c.136_138del, XM_017017222.3:c.859_861del, XM_017017222.2:c.859_861del, XM_017017222.1:c.859_861del, XM_017017228.3:c.136_138del, XM_017017228.2:c.136_138del, XM_017017228.1:c.136_138del, NM_001270381.3:c.136_138del, NM_001270381.2:c.136_138del, NM_001270381.1:c.136_138del, XM_017017224.3:c.859_861del, XM_017017224.2:c.859_861del, XM_017017224.1:c.859_861del, NM_001270380.3:c.835_837del, NM_001270380.2:c.835_837del, NM_001270380.1:c.835_837del, XM_011544755.2:c.859_861del, XM_011544755.1:c.859_861del, XM_011544756.2:c.859_861del, XM_011544756.1:c.859_861del, XM_011544758.2:c.688_690del, XM_011544758.1:c.688_690del, XM_011544757.2:c.859_861del, XM_011544757.1:c.859_861del, XM_011544765.2:c.136_138del, XM_011544765.1:c.136_138del, XM_011544759.2:c.664_666del, XM_011544759.1:c.664_666del, XM_017017221.2:c.859_861del, XM_017017221.1:c.859_861del, XM_011544761.2:c.616_618del, XM_011544761.1:c.616_618del, XM_011544762.2:c.859_861del, XM_011544762.1:c.859_861del, NM_001378157.1:c.859_861del, NM_001378158.1:c.859_861del, XM_047426397.1:c.136_138del, NM_001378165.1:c.-130_-128del, NM_001378161.1:c.136_138del, XM_047426386.1:c.859_861del, XM_047426382.1:c.835_837del, NM_001378166.1:c.-130_-128del, NM_001378159.1:c.859_861del, XM_047426388.1:c.136_138del, NM_001378162.1:c.136_138del, NM_001378174.1:c.-130_-128del, XM_047426391.1:c.136_138del, XM_047426383.1:c.688_690del, XM_047426400.1:c.136_138del, XM_047426390.1:c.688_690del, NM_001378169.1:c.-130_-128del, XM_047426392.1:c.136_138del, XM_047426393.1:c.136_138del, XM_047426384.1:c.688_690del, NM_001378163.1:c.136_138del, NM_001378160.1:c.859_861del, NM_001378164.1:c.136_138del, XM_047426394.1:c.136_138del, NM_001378170.1:c.136_138del, NM_001378175.1:c.-130_-128del, XM_047426395.1:c.136_138del, XM_047426387.1:c.616_618del, XM_047426396.1:c.136_138del, NM_001378176.1:c.-130_-128del, XM_047426385.1:c.370_372del, XM_047426405.1:c.136_138del, NM_001378167.1:c.-130_-128del, NR_165434.1:n.899_901del, XM_047426399.1:c.136_138del, NM_001378173.1:c.136_138del, NM_001378172.1:c.136_138del, XM_047426401.1:c.136_138del, XM_047426389.1:c.370_372del, XM_047426402.1:c.136_138del, XM_047426406.1:c.136_138del, XM_047426404.1:c.136_138del, NM_001378168.1:c.136_138del, XM_047426407.1:c.136_138del, XM_047426408.1:c.136_138del, NM_001378171.1:c.136_138del, NP_892014.1:p.Glu279del, XP_011543065.1:p.Glu287del, XP_005273827.1:p.Glu46del, XP_016872711.1:p.Glu287del, XP_016872717.1:p.Glu46del, NP_001257310.1:p.Glu46del, XP_016872713.1:p.Glu287del, NP_001257309.1:p.Glu279del, XP_011543057.1:p.Glu287del, XP_011543058.1:p.Glu287del, XP_011543060.1:p.Glu230del, XP_011543059.1:p.Glu287del, XP_011543067.1:p.Glu46del, XP_011543061.1:p.Glu222del, XP_016872710.1:p.Glu287del, XP_011543063.1:p.Glu206del, XP_011543064.1:p.Glu287del, NP_001365086.1:p.Glu287del, NP_001365087.1:p.Glu287del, XP_047282353.1:p.Glu46del, NP_001365090.1:p.Glu46del, XP_047282342.1:p.Glu287del, XP_047282338.1:p.Glu279del, NP_001365088.1:p.Glu287del, XP_047282344.1:p.Glu46del, NP_001365091.1:p.Glu46del, XP_047282347.1:p.Glu46del, XP_047282339.1:p.Glu230del, XP_047282356.1:p.Glu46del, XP_047282346.1:p.Glu230del, XP_047282348.1:p.Glu46del, XP_047282349.1:p.Glu46del, XP_047282340.1:p.Glu230del, NP_001365092.1:p.Glu46del, NP_001365089.1:p.Glu287del, NP_001365093.1:p.Glu46del, XP_047282350.1:p.Glu46del, NP_001365099.1:p.Glu46del, XP_047282351.1:p.Glu46del, XP_047282343.1:p.Glu206del, XP_047282352.1:p.Glu46del, XP_047282341.1:p.Glu124del, XP_047282361.1:p.Glu46del, XP_047282355.1:p.Glu46del, NP_001365102.1:p.Glu46del, NP_001365101.1:p.Glu46del, XP_047282357.1:p.Glu46del, XP_047282345.1:p.Glu124del, XP_047282358.1:p.Glu46del, XP_047282362.1:p.Glu46del, XP_047282360.1:p.Glu46del, NP_001365097.1:p.Glu46del, XP_047282363.1:p.Glu46del, XP_047282364.1:p.Glu46del, NP_001365100.1:p.Glu46del

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