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Items: 1 to 20 of 1095

1.

rs1489059637 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    16:28830967 (GRCh38)
    16:28842288 (GRCh37)
    Canonical SPDI:
    NC_000016.10:28830966:T:C
    Gene:
    ATXN2L (Varview)
    Functional Consequence:
    coding_sequence_variant,intron_variant,missense_variant
    HGVS:
    NC_000016.10:g.28830967T>C, NC_000016.9:g.28842288T>C, XM_006721012.5:c.1216T>C, XM_006721012.4:c.1216T>C, XM_006721012.3:c.1216T>C, XM_006721012.2:c.1216T>C, XM_006721012.1:c.1216T>C, NM_007245.4:c.1216T>C, NM_007245.3:c.1216T>C, NM_017492.4:c.1216T>C, NM_017492.3:c.1216T>C, XM_011545719.3:c.1216T>C, XM_011545719.2:c.1216T>C, XM_011545719.1:c.1216T>C, NM_148414.3:c.1216T>C, NM_148414.2:c.1216T>C, NM_145714.3:c.1216T>C, NM_145714.2:c.1216T>C, NM_148415.3:c.1216T>C, NM_148415.2:c.1216T>C, NM_148416.3:c.1216T>C, NM_148416.2:c.1216T>C, XM_006721011.2:c.1216T>C, XM_006721011.1:c.1216T>C, XM_005255062.2:c.1216T>C, XM_005255062.1:c.1216T>C, NM_001308230.2:c.1216T>C, NM_001308230.1:c.1216T>C, XM_005255074.2:c.1216T>C, XM_005255074.1:c.1216T>C, NM_001387171.1:c.1216T>C, NM_001387172.1:c.1216T>C, NM_001387178.1:c.1216T>C, NM_001387180.1:c.1216T>C, XM_047433526.1:c.1216T>C, NM_001387187.1:c.1216T>C, NM_001387186.1:c.1216T>C, NM_001387188.1:c.1216T>C, XM_047433534.1:c.1036T>C, XM_047433538.1:c.1036T>C, XM_047433539.1:c.1036T>C, XM_047433530.1:c.1216T>C, XM_047433531.1:c.1216T>C, XM_047433532.1:c.1216T>C, NM_001387166.1:c.1216T>C, XM_047433536.1:c.1216T>C, XM_047433525.1:c.1216T>C, NM_001387168.1:c.1216T>C, XM_047433537.1:c.1216T>C, NM_001387167.1:c.1216T>C, NM_001387170.1:c.1216T>C, NM_001387173.1:c.1216T>C, NM_001387174.1:c.1216T>C, NM_001387176.1:c.1216T>C, NM_001387169.1:c.1216T>C, XM_047433544.1:c.1036T>C, XM_047433545.1:c.1036T>C, NM_001387175.1:c.1216T>C, NM_001387179.1:c.1216T>C, NM_001387185.1:c.1216T>C, XM_047433549.1:c.1036T>C, XM_047433529.1:c.1216T>C, NM_001387193.1:c.1216T>C, NM_001387183.1:c.1216T>C, NM_001387181.1:c.1216T>C, NM_001387182.1:c.1216T>C, NM_001387196.1:c.1216T>C, XM_047433528.1:c.1216T>C, NM_001387194.1:c.1216T>C, NM_001387195.1:c.1216T>C, XM_047433527.1:c.1216T>C, NM_001387184.1:c.1216T>C, NM_001387198.1:c.1216T>C, NM_001387189.1:c.1216T>C, NM_001387197.1:c.1216T>C, NM_001387192.1:c.1216T>C, NM_001387190.1:c.1216T>C, NM_001387191.1:c.1216T>C, NM_001387200.1:c.1216T>C, XM_047433533.1:c.1216T>C, XM_047433535.1:c.1216T>C, NM_001387199.1:c.1216T>C, NM_001387202.1:c.1216T>C, XM_047433540.1:c.1036T>C, XM_047433541.1:c.1036T>C, XM_047433542.1:c.1036T>C, XM_047433543.1:c.1036T>C, NM_001387204.1:c.1216T>C, NM_001387177.1:c.1216T>C, XM_047433546.1:c.1036T>C, XM_047433548.1:c.1036T>C, XP_006721075.1:p.Ser406Pro, NP_009176.2:p.Ser406Pro, NP_059867.3:p.Ser406Pro, XP_011544021.1:p.Ser406Pro, NP_680780.1:p.Ser406Pro, NP_663760.1:p.Ser406Pro, NP_680781.1:p.Ser406Pro, NP_680782.1:p.Ser406Pro, XP_006721074.1:p.Ser406Pro, XP_005255119.1:p.Ser406Pro, NP_001295159.1:p.Ser406Pro, XP_005255131.1:p.Ser406Pro, NP_001374100.1:p.Ser406Pro, NP_001374101.1:p.Ser406Pro, NP_001374107.1:p.Ser406Pro, NP_001374109.1:p.Ser406Pro, XP_047289482.1:p.Ser406Pro, NP_001374116.1:p.Ser406Pro, NP_001374115.1:p.Ser406Pro, NP_001374117.1:p.Ser406Pro, XP_047289490.1:p.Ser346Pro, XP_047289494.1:p.Ser346Pro, XP_047289495.1:p.Ser346Pro, XP_047289486.1:p.Ser406Pro, XP_047289487.1:p.Ser406Pro, XP_047289488.1:p.Ser406Pro, NP_001374095.1:p.Ser406Pro, XP_047289492.1:p.Ser406Pro, XP_047289481.1:p.Ser406Pro, NP_001374097.1:p.Ser406Pro, XP_047289493.1:p.Ser406Pro, NP_001374096.1:p.Ser406Pro, NP_001374099.1:p.Ser406Pro, NP_001374102.1:p.Ser406Pro, NP_001374103.1:p.Ser406Pro, NP_001374105.1:p.Ser406Pro, NP_001374098.1:p.Ser406Pro, XP_047289500.1:p.Ser346Pro, XP_047289501.1:p.Ser346Pro, NP_001374104.1:p.Ser406Pro, NP_001374108.1:p.Ser406Pro, NP_001374114.1:p.Ser406Pro, XP_047289505.1:p.Ser346Pro, XP_047289485.1:p.Ser406Pro, NP_001374122.1:p.Ser406Pro, NP_001374112.1:p.Ser406Pro, NP_001374110.1:p.Ser406Pro, NP_001374111.1:p.Ser406Pro, NP_001374125.1:p.Ser406Pro, XP_047289484.1:p.Ser406Pro, NP_001374123.1:p.Ser406Pro, NP_001374124.1:p.Ser406Pro, XP_047289483.1:p.Ser406Pro, NP_001374113.1:p.Ser406Pro, NP_001374127.1:p.Ser406Pro, NP_001374118.1:p.Ser406Pro, NP_001374126.1:p.Ser406Pro, NP_001374121.1:p.Ser406Pro, NP_001374119.1:p.Ser406Pro, NP_001374120.1:p.Ser406Pro, NP_001374129.1:p.Ser406Pro, XP_047289489.1:p.Ser406Pro, XP_047289491.1:p.Ser406Pro, NP_001374128.1:p.Ser406Pro, NP_001374131.1:p.Ser406Pro, XP_047289496.1:p.Ser346Pro, XP_047289497.1:p.Ser346Pro, XP_047289498.1:p.Ser346Pro, XP_047289499.1:p.Ser346Pro, NP_001374133.1:p.Ser406Pro, NP_001374106.1:p.Ser406Pro, XP_047289502.1:p.Ser346Pro, XP_047289504.1:p.Ser346Pro

    2.

    rs1487144703 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      16:28833099 (GRCh38)
      16:28844420 (GRCh37)
      Canonical SPDI:
      NC_000016.10:28833098:T:C
      Gene:
      ATXN2L (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000016.10:g.28833099T>C, NC_000016.9:g.28844420T>C, XM_006721012.5:c.1718T>C, XM_006721012.4:c.1718T>C, XM_006721012.3:c.1718T>C, XM_006721012.2:c.1718T>C, XM_006721012.1:c.1718T>C, NM_007245.4:c.1700T>C, NM_007245.3:c.1700T>C, NM_017492.4:c.1700T>C, NM_017492.3:c.1700T>C, XM_011545719.3:c.1718T>C, XM_011545719.2:c.1718T>C, XM_011545719.1:c.1718T>C, NM_148414.3:c.1700T>C, NM_148414.2:c.1700T>C, NM_145714.3:c.1700T>C, NM_145714.2:c.1700T>C, NM_148415.3:c.1700T>C, NM_148415.2:c.1700T>C, NM_148416.3:c.1700T>C, NM_148416.2:c.1700T>C, XM_006721011.2:c.1718T>C, XM_006721011.1:c.1718T>C, XM_005255062.2:c.1718T>C, XM_005255062.1:c.1718T>C, NM_001308230.2:c.1718T>C, NM_001308230.1:c.1718T>C, XM_005255074.2:c.1718T>C, XM_005255074.1:c.1718T>C, NM_001387171.1:c.1718T>C, NM_001387172.1:c.1718T>C, NM_001387178.1:c.1700T>C, NM_001387180.1:c.1700T>C, XM_047433526.1:c.1646T>C, NM_001387187.1:c.1631T>C, NM_001387186.1:c.1628T>C, NM_001387188.1:c.1628T>C, XM_047433534.1:c.1538T>C, NM_001387203.1:c.1511T>C, XM_047433538.1:c.1448T>C, XM_047433539.1:c.1448T>C, XM_047433530.1:c.1718T>C, XM_047433531.1:c.1700T>C, XM_047433532.1:c.1700T>C, NM_001387166.1:c.1718T>C, XM_047433536.1:c.1646T>C, XM_047433525.1:c.1718T>C, NM_001387168.1:c.1700T>C, XM_047433537.1:c.1628T>C, NM_001387167.1:c.1700T>C, NM_001387170.1:c.1718T>C, NM_001387173.1:c.1700T>C, NM_001387174.1:c.1700T>C, NM_001387176.1:c.1700T>C, NM_001387169.1:c.1718T>C, XM_047433544.1:c.1520T>C, XM_047433545.1:c.1520T>C, NM_001387175.1:c.1700T>C, NM_001387179.1:c.1628T>C, NM_001387185.1:c.1628T>C, XM_047433549.1:c.1448T>C, XM_047433529.1:c.1718T>C, NM_001387193.1:c.1718T>C, NM_001387183.1:c.1700T>C, NM_001387181.1:c.1718T>C, NM_001387182.1:c.1718T>C, NM_001387196.1:c.1700T>C, XM_047433528.1:c.1718T>C, NM_001387194.1:c.1700T>C, NM_001387195.1:c.1700T>C, XM_047433527.1:c.1718T>C, NM_001387184.1:c.1700T>C, NM_001387198.1:c.1700T>C, NM_001387189.1:c.1718T>C, NM_001387197.1:c.1646T>C, NM_001387192.1:c.1700T>C, NM_001387190.1:c.1718T>C, NM_001387191.1:c.1700T>C, NM_001387200.1:c.1646T>C, XM_047433533.1:c.1646T>C, XM_047433535.1:c.1628T>C, NM_001387199.1:c.1631T>C, NM_001387202.1:c.1628T>C, XM_047433540.1:c.1538T>C, XM_047433541.1:c.1538T>C, XM_047433542.1:c.1520T>C, XM_047433543.1:c.1520T>C, NM_001387204.1:c.1700T>C, NM_001387177.1:c.1700T>C, XM_047433546.1:c.1448T>C, XM_047433548.1:c.1448T>C, XP_006721075.1:p.Phe573Ser, NP_009176.2:p.Phe567Ser, NP_059867.3:p.Phe567Ser, XP_011544021.1:p.Phe573Ser, NP_680780.1:p.Phe567Ser, NP_663760.1:p.Phe567Ser, NP_680781.1:p.Phe567Ser, NP_680782.1:p.Phe567Ser, XP_006721074.1:p.Phe573Ser, XP_005255119.1:p.Phe573Ser, NP_001295159.1:p.Phe573Ser, XP_005255131.1:p.Phe573Ser, NP_001374100.1:p.Phe573Ser, NP_001374101.1:p.Phe573Ser, NP_001374107.1:p.Phe567Ser, NP_001374109.1:p.Phe567Ser, XP_047289482.1:p.Phe549Ser, NP_001374116.1:p.Phe544Ser, NP_001374115.1:p.Phe543Ser, NP_001374117.1:p.Phe543Ser, XP_047289490.1:p.Phe513Ser, NP_001374132.1:p.Phe504Ser, XP_047289494.1:p.Phe483Ser, XP_047289495.1:p.Phe483Ser, XP_047289486.1:p.Phe573Ser, XP_047289487.1:p.Phe567Ser, XP_047289488.1:p.Phe567Ser, NP_001374095.1:p.Phe573Ser, XP_047289492.1:p.Phe549Ser, XP_047289481.1:p.Phe573Ser, NP_001374097.1:p.Phe567Ser, XP_047289493.1:p.Phe543Ser, NP_001374096.1:p.Phe567Ser, NP_001374099.1:p.Phe573Ser, NP_001374102.1:p.Phe567Ser, NP_001374103.1:p.Phe567Ser, NP_001374105.1:p.Phe567Ser, NP_001374098.1:p.Phe573Ser, XP_047289500.1:p.Phe507Ser, XP_047289501.1:p.Phe507Ser, NP_001374104.1:p.Phe567Ser, NP_001374108.1:p.Phe543Ser, NP_001374114.1:p.Phe543Ser, XP_047289505.1:p.Phe483Ser, XP_047289485.1:p.Phe573Ser, NP_001374122.1:p.Phe573Ser, NP_001374112.1:p.Phe567Ser, NP_001374110.1:p.Phe573Ser, NP_001374111.1:p.Phe573Ser, NP_001374125.1:p.Phe567Ser, XP_047289484.1:p.Phe573Ser, NP_001374123.1:p.Phe567Ser, NP_001374124.1:p.Phe567Ser, XP_047289483.1:p.Phe573Ser, NP_001374113.1:p.Phe567Ser, NP_001374127.1:p.Phe567Ser, NP_001374118.1:p.Phe573Ser, NP_001374126.1:p.Phe549Ser, NP_001374121.1:p.Phe567Ser, NP_001374119.1:p.Phe573Ser, NP_001374120.1:p.Phe567Ser, NP_001374129.1:p.Phe549Ser, XP_047289489.1:p.Phe549Ser, XP_047289491.1:p.Phe543Ser, NP_001374128.1:p.Phe544Ser, NP_001374131.1:p.Phe543Ser, XP_047289496.1:p.Phe513Ser, XP_047289497.1:p.Phe513Ser, XP_047289498.1:p.Phe507Ser, XP_047289499.1:p.Phe507Ser, NP_001374133.1:p.Phe567Ser, NP_001374106.1:p.Phe567Ser, XP_047289502.1:p.Phe483Ser, XP_047289504.1:p.Phe483Ser

      3.

      rs1486154376 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C,T [Show Flanks]
        Chromosome:
        16:28835980 (GRCh38)
        16:28847301 (GRCh37)
        Canonical SPDI:
        NC_000016.10:28835979:G:C,NC_000016.10:28835979:G:T
        Gene:
        ATXN2L (Varview)
        Functional Consequence:
        coding_sequence_variant,intron_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        NC_000016.10:g.28835980G>C, NC_000016.10:g.28835980G>T, NC_000016.9:g.28847301G>C, NC_000016.9:g.28847301G>T, XM_006721012.5:c.2964G>C, XM_006721012.5:c.2964G>T, XM_006721012.4:c.2964G>C, XM_006721012.4:c.2964G>T, XM_006721012.3:c.2964G>C, XM_006721012.3:c.2964G>T, XM_006721012.2:c.2964G>C, XM_006721012.2:c.2964G>T, XM_006721012.1:c.2964G>C, XM_006721012.1:c.2964G>T, NM_007245.4:c.2943G>C, NM_007245.4:c.2943G>T, NM_007245.3:c.2943G>C, NM_007245.3:c.2943G>T, NM_017492.4:c.2943G>C, NM_017492.4:c.2943G>T, NM_017492.3:c.2943G>C, NM_017492.3:c.2943G>T, XM_011545719.3:c.2964G>C, XM_011545719.3:c.2964G>T, XM_011545719.2:c.2964G>C, XM_011545719.2:c.2964G>T, XM_011545719.1:c.2964G>C, XM_011545719.1:c.2964G>T, NM_148414.3:c.2943G>C, NM_148414.3:c.2943G>T, NM_148414.2:c.2943G>C, NM_148414.2:c.2943G>T, NM_145714.3:c.2943G>C, NM_145714.3:c.2943G>T, NM_145714.2:c.2943G>C, NM_145714.2:c.2943G>T, NM_148415.3:c.2943G>C, NM_148415.3:c.2943G>T, NM_148415.2:c.2943G>C, NM_148415.2:c.2943G>T, NM_148416.3:c.2943G>C, NM_148416.3:c.2943G>T, NM_148416.2:c.2943G>C, NM_148416.2:c.2943G>T, XM_006721011.2:c.2964G>C, XM_006721011.2:c.2964G>T, XM_006721011.1:c.2964G>C, XM_006721011.1:c.2964G>T, XM_005255062.2:c.2964G>C, XM_005255062.2:c.2964G>T, XM_005255062.1:c.2964G>C, XM_005255062.1:c.2964G>T, NM_001308230.2:c.2961G>C, NM_001308230.2:c.2961G>T, NM_001308230.1:c.2961G>C, NM_001308230.1:c.2961G>T, XM_005255074.2:c.2964G>C, XM_005255074.2:c.2964G>T, XM_005255074.1:c.2964G>C, XM_005255074.1:c.2964G>T, NM_001387171.1:c.2964G>C, NM_001387171.1:c.2964G>T, NM_001387172.1:c.2961G>C, NM_001387172.1:c.2961G>T, NM_001387178.1:c.2946G>C, NM_001387178.1:c.2946G>T, NM_001387180.1:c.2937G>C, NM_001387180.1:c.2937G>T, XM_047433526.1:c.2889G>C, XM_047433526.1:c.2889G>T, NM_001387187.1:c.2874G>C, NM_001387187.1:c.2874G>T, NM_001387186.1:c.2874G>C, NM_001387186.1:c.2874G>T, NM_001387188.1:c.2871G>C, NM_001387188.1:c.2871G>T, XM_047433534.1:c.2781G>C, XM_047433534.1:c.2781G>T, NM_001387203.1:c.2754G>C, NM_001387203.1:c.2754G>T, XM_047433538.1:c.2694G>C, XM_047433538.1:c.2694G>T, XM_047433539.1:c.2691G>C, XM_047433539.1:c.2691G>T, XM_047433530.1:c.2961G>C, XM_047433530.1:c.2961G>T, XM_047433531.1:c.2946G>C, XM_047433531.1:c.2946G>T, XM_047433532.1:c.2943G>C, XM_047433532.1:c.2943G>T, NM_001387166.1:c.2961G>C, NM_001387166.1:c.2961G>T, XM_047433536.1:c.2889G>C, XM_047433536.1:c.2889G>T, XM_047433525.1:c.2964G>C, XM_047433525.1:c.2964G>T, NM_001387168.1:c.2943G>C, NM_001387168.1:c.2943G>T, XM_047433537.1:c.2871G>C, XM_047433537.1:c.2871G>T, NM_001387167.1:c.2943G>C, NM_001387167.1:c.2943G>T, NM_001387170.1:c.2961G>C, NM_001387170.1:c.2961G>T, NM_001387173.1:c.2946G>C, NM_001387173.1:c.2946G>T, NM_001387174.1:c.2943G>C, NM_001387174.1:c.2943G>T, NM_001387176.1:c.2943G>C, NM_001387176.1:c.2943G>T, NM_001387169.1:c.2961G>C, NM_001387169.1:c.2961G>T, XM_047433544.1:c.2766G>C, XM_047433544.1:c.2766G>T, XM_047433545.1:c.2763G>C, XM_047433545.1:c.2763G>T, NM_001387175.1:c.2943G>C, NM_001387175.1:c.2943G>T, NM_001387179.1:c.2871G>C, NM_001387179.1:c.2871G>T, NM_001387185.1:c.2871G>C, NM_001387185.1:c.2871G>T, XM_047433549.1:c.2694G>C, XM_047433549.1:c.2694G>T, XM_047433529.1:c.2964G>C, XM_047433529.1:c.2964G>T, NM_001387193.1:c.2961G>C, NM_001387193.1:c.2961G>T, NM_001387183.1:c.2946G>C, NM_001387183.1:c.2946G>T, NM_001387181.1:c.2964G>C, NM_001387181.1:c.2964G>T, NM_001387182.1:c.2961G>C, NM_001387182.1:c.2961G>T, NM_001387196.1:c.2943G>C, NM_001387196.1:c.2943G>T, XM_047433528.1:c.2964G>C, XM_047433528.1:c.2964G>T, NM_001387194.1:c.2946G>C, NM_001387194.1:c.2946G>T, NM_001387195.1:c.2943G>C, NM_001387195.1:c.2943G>T, XM_047433527.1:c.2964G>C, XM_047433527.1:c.2964G>T, NM_001387184.1:c.2946G>C, NM_001387184.1:c.2946G>T, NM_001387198.1:c.2943G>C, NM_001387198.1:c.2943G>T, NM_001387189.1:c.2961G>C, NM_001387189.1:c.2961G>T, NM_001387197.1:c.2889G>C, NM_001387197.1:c.2889G>T, NM_001387192.1:c.2946G>C, NM_001387192.1:c.2946G>T, NM_001387190.1:c.2961G>C, NM_001387190.1:c.2961G>T, NM_001387191.1:c.2946G>C, NM_001387191.1:c.2946G>T, NM_001387200.1:c.2889G>C, NM_001387200.1:c.2889G>T, XM_047433533.1:c.2889G>C, XM_047433533.1:c.2889G>T, XM_047433535.1:c.2874G>C, XM_047433535.1:c.2874G>T, NM_001387199.1:c.2874G>C, NM_001387199.1:c.2874G>T, NM_001387202.1:c.2871G>C, NM_001387202.1:c.2871G>T, XM_047433540.1:c.2784G>C, XM_047433540.1:c.2784G>T, XM_047433541.1:c.2781G>C, XM_047433541.1:c.2781G>T, XM_047433542.1:c.2766G>C, XM_047433542.1:c.2766G>T, XM_047433543.1:c.2763G>C, XM_047433543.1:c.2763G>T, NM_001387177.1:c.2943G>C, NM_001387177.1:c.2943G>T, XM_047433546.1:c.2694G>C, XM_047433546.1:c.2694G>T, XM_047433548.1:c.2691G>C, XM_047433548.1:c.2691G>T

        4.

        rs1484061752 has merged into rs779020531 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CGCCGCCGC>-,CGC,CGCCGC,CGCCGCCGCCGC,CGCCGCCGCCGCCGC,CGCCGCCGCCGCCGCCGC [Show Flanks]
          Chromosome:
          16:28823504 (GRCh38)
          16:28834825 (GRCh37)
          Canonical SPDI:
          NC_000016.10:28823498:GCCGCCGCCGCCGC:GCCGC,NC_000016.10:28823498:GCCGCCGCCGCCGC:GCCGCCGC,NC_000016.10:28823498:GCCGCCGCCGCCGC:GCCGCCGCCGC,NC_000016.10:28823498:GCCGCCGCCGCCGC:GCCGCCGCCGCCGCCGC,NC_000016.10:28823498:GCCGCCGCCGCCGC:GCCGCCGCCGCCGCCGCCGC,NC_000016.10:28823498:GCCGCCGCCGCCGC:GCCGCCGCCGCCGCCGCCGCCGC
          Gene:
          ATXN2L (Varview), LOC124903672 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,inframe_insertion,coding_sequence_variant,inframe_deletion
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GCCGCCGC=0./0 (ALFA)
          GCC=0.00031/2 (1000Genomes)
          GCC=0.00169/3 (Korea1K)
          GCC=0.00389/65 (TOMMO)
          -=0.00688/14 (GoESP)
          -=0.01351/19 (ExAC)
          HGVS:
          NC_000016.10:g.28823501CGC[1], NC_000016.10:g.28823501CGC[2], NC_000016.10:g.28823501CGC[3], NC_000016.10:g.28823501CGC[5], NC_000016.10:g.28823501CGC[6], NC_000016.10:g.28823501CGC[7], NC_000016.9:g.28834822CGC[1], NC_000016.9:g.28834822CGC[2], NC_000016.9:g.28834822CGC[3], NC_000016.9:g.28834822CGC[5], NC_000016.9:g.28834822CGC[6], NC_000016.9:g.28834822CGC[7], XM_006721012.5:c.242CGC[1], XM_006721012.5:c.242CGC[2], XM_006721012.5:c.242CGC[3], XM_006721012.5:c.242CGC[5], XM_006721012.5:c.242CGC[6], XM_006721012.5:c.242CGC[7], XM_006721012.4:c.242CGC[1], XM_006721012.4:c.242CGC[2], XM_006721012.4:c.242CGC[3], XM_006721012.4:c.242CGC[5], XM_006721012.4:c.242CGC[6], XM_006721012.4:c.242CGC[7], XM_006721012.3:c.242CGC[1], XM_006721012.3:c.242CGC[2], XM_006721012.3:c.242CGC[3], XM_006721012.3:c.242CGC[5], XM_006721012.3:c.242CGC[6], XM_006721012.3:c.242CGC[7], XM_006721012.2:c.242CGC[1], XM_006721012.2:c.242CGC[2], XM_006721012.2:c.242CGC[3], XM_006721012.2:c.242CGC[5], XM_006721012.2:c.242CGC[6], XM_006721012.2:c.242CGC[7], XM_006721012.1:c.242CGC[1], XM_006721012.1:c.242CGC[2], XM_006721012.1:c.242CGC[3], XM_006721012.1:c.242CGC[5], XM_006721012.1:c.242CGC[6], XM_006721012.1:c.242CGC[7], NM_007245.4:c.242CGC[1], NM_007245.4:c.242CGC[2], NM_007245.4:c.242CGC[3], NM_007245.4:c.242CGC[5], NM_007245.4:c.242CGC[6], NM_007245.4:c.242CGC[7], NM_007245.3:c.242CGC[1], NM_007245.3:c.242CGC[2], NM_007245.3:c.242CGC[3], NM_007245.3:c.242CGC[5], NM_007245.3:c.242CGC[6], NM_007245.3:c.242CGC[7], NM_017492.4:c.242CGC[1], NM_017492.4:c.242CGC[2], NM_017492.4:c.242CGC[3], NM_017492.4:c.242CGC[5], NM_017492.4:c.242CGC[6], NM_017492.4:c.242CGC[7], NM_017492.3:c.242CGC[1], NM_017492.3:c.242CGC[2], NM_017492.3:c.242CGC[3], NM_017492.3:c.242CGC[5], NM_017492.3:c.242CGC[6], NM_017492.3:c.242CGC[7], XM_011545719.3:c.242CGC[1], XM_011545719.3:c.242CGC[2], XM_011545719.3:c.242CGC[3], XM_011545719.3:c.242CGC[5], XM_011545719.3:c.242CGC[6], XM_011545719.3:c.242CGC[7], XM_011545719.2:c.242CGC[1], XM_011545719.2:c.242CGC[2], XM_011545719.2:c.242CGC[3], XM_011545719.2:c.242CGC[5], XM_011545719.2:c.242CGC[6], XM_011545719.2:c.242CGC[7], XM_011545719.1:c.242CGC[1], XM_011545719.1:c.242CGC[2], XM_011545719.1:c.242CGC[3], XM_011545719.1:c.242CGC[5], XM_011545719.1:c.242CGC[6], XM_011545719.1:c.242CGC[7], NM_148414.3:c.242CGC[1], NM_148414.3:c.242CGC[2], NM_148414.3:c.242CGC[3], NM_148414.3:c.242CGC[5], NM_148414.3:c.242CGC[6], NM_148414.3:c.242CGC[7], NM_148414.2:c.242CGC[1], NM_148414.2:c.242CGC[2], NM_148414.2:c.242CGC[3], NM_148414.2:c.242CGC[5], NM_148414.2:c.242CGC[6], NM_148414.2:c.242CGC[7], NM_145714.3:c.242CGC[1], NM_145714.3:c.242CGC[2], NM_145714.3:c.242CGC[3], NM_145714.3:c.242CGC[5], NM_145714.3:c.242CGC[6], NM_145714.3:c.242CGC[7], NM_145714.2:c.242CGC[1], NM_145714.2:c.242CGC[2], NM_145714.2:c.242CGC[3], NM_145714.2:c.242CGC[5], NM_145714.2:c.242CGC[6], NM_145714.2:c.242CGC[7], NM_148415.3:c.242CGC[1], NM_148415.3:c.242CGC[2], NM_148415.3:c.242CGC[3], NM_148415.3:c.242CGC[5], NM_148415.3:c.242CGC[6], NM_148415.3:c.242CGC[7], NM_148415.2:c.242CGC[1], NM_148415.2:c.242CGC[2], NM_148415.2:c.242CGC[3], NM_148415.2:c.242CGC[5], NM_148415.2:c.242CGC[6], NM_148415.2:c.242CGC[7], NM_148416.3:c.242CGC[1], NM_148416.3:c.242CGC[2], NM_148416.3:c.242CGC[3], NM_148416.3:c.242CGC[5], NM_148416.3:c.242CGC[6], NM_148416.3:c.242CGC[7], NM_148416.2:c.242CGC[1], NM_148416.2:c.242CGC[2], NM_148416.2:c.242CGC[3], NM_148416.2:c.242CGC[5], NM_148416.2:c.242CGC[6], NM_148416.2:c.242CGC[7], XM_006721011.2:c.242CGC[1], XM_006721011.2:c.242CGC[2], XM_006721011.2:c.242CGC[3], XM_006721011.2:c.242CGC[5], XM_006721011.2:c.242CGC[6], XM_006721011.2:c.242CGC[7], XM_006721011.1:c.242CGC[1], XM_006721011.1:c.242CGC[2], XM_006721011.1:c.242CGC[3], XM_006721011.1:c.242CGC[5], XM_006721011.1:c.242CGC[6], XM_006721011.1:c.242CGC[7], XM_005255062.2:c.242CGC[1], XM_005255062.2:c.242CGC[2], XM_005255062.2:c.242CGC[3], XM_005255062.2:c.242CGC[5], XM_005255062.2:c.242CGC[6], XM_005255062.2:c.242CGC[7], XM_005255062.1:c.242CGC[1], XM_005255062.1:c.242CGC[2], XM_005255062.1:c.242CGC[3], XM_005255062.1:c.242CGC[5], XM_005255062.1:c.242CGC[6], XM_005255062.1:c.242CGC[7], NM_001308230.2:c.242CGC[1], NM_001308230.2:c.242CGC[2], NM_001308230.2:c.242CGC[3], NM_001308230.2:c.242CGC[5], NM_001308230.2:c.242CGC[6], NM_001308230.2:c.242CGC[7], NM_001308230.1:c.242CGC[1], NM_001308230.1:c.242CGC[2], NM_001308230.1:c.242CGC[3], NM_001308230.1:c.242CGC[5], NM_001308230.1:c.242CGC[6], NM_001308230.1:c.242CGC[7], XM_005255074.2:c.242CGC[1], XM_005255074.2:c.242CGC[2], XM_005255074.2:c.242CGC[3], XM_005255074.2:c.242CGC[5], XM_005255074.2:c.242CGC[6], XM_005255074.2:c.242CGC[7], XM_005255074.1:c.242CGC[1], XM_005255074.1:c.242CGC[2], XM_005255074.1:c.242CGC[3], XM_005255074.1:c.242CGC[5], XM_005255074.1:c.242CGC[6], XM_005255074.1:c.242CGC[7], NM_001387171.1:c.242CGC[1], NM_001387171.1:c.242CGC[2], NM_001387171.1:c.242CGC[3], NM_001387171.1:c.242CGC[5], NM_001387171.1:c.242CGC[6], NM_001387171.1:c.242CGC[7], NM_001387172.1:c.242CGC[1], NM_001387172.1:c.242CGC[2], NM_001387172.1:c.242CGC[3], NM_001387172.1:c.242CGC[5], NM_001387172.1:c.242CGC[6], NM_001387172.1:c.242CGC[7], NM_001387178.1:c.242CGC[1], NM_001387178.1:c.242CGC[2], NM_001387178.1:c.242CGC[3], NM_001387178.1:c.242CGC[5], NM_001387178.1:c.242CGC[6], NM_001387178.1:c.242CGC[7], NM_001387180.1:c.242CGC[1], NM_001387180.1:c.242CGC[2], NM_001387180.1:c.242CGC[3], NM_001387180.1:c.242CGC[5], NM_001387180.1:c.242CGC[6], NM_001387180.1:c.242CGC[7], XM_047433526.1:c.242CGC[1], XM_047433526.1:c.242CGC[2], XM_047433526.1:c.242CGC[3], XM_047433526.1:c.242CGC[5], XM_047433526.1:c.242CGC[6], XM_047433526.1:c.242CGC[7], NM_001387187.1:c.242CGC[1], NM_001387187.1:c.242CGC[2], NM_001387187.1:c.242CGC[3], NM_001387187.1:c.242CGC[5], NM_001387187.1:c.242CGC[6], NM_001387187.1:c.242CGC[7], NM_001387186.1:c.242CGC[1], NM_001387186.1:c.242CGC[2], NM_001387186.1:c.242CGC[3], NM_001387186.1:c.242CGC[5], NM_001387186.1:c.242CGC[6], NM_001387186.1:c.242CGC[7], NM_001387188.1:c.242CGC[1], NM_001387188.1:c.242CGC[2], NM_001387188.1:c.242CGC[3], NM_001387188.1:c.242CGC[5], NM_001387188.1:c.242CGC[6], NM_001387188.1:c.242CGC[7], NM_001387203.1:c.242CGC[1], NM_001387203.1:c.242CGC[2], NM_001387203.1:c.242CGC[3], NM_001387203.1:c.242CGC[5], NM_001387203.1:c.242CGC[6], NM_001387203.1:c.242CGC[7], XM_047433530.1:c.242CGC[1], XM_047433530.1:c.242CGC[2], XM_047433530.1:c.242CGC[3], XM_047433530.1:c.242CGC[5], XM_047433530.1:c.242CGC[6], XM_047433530.1:c.242CGC[7], XM_047433531.1:c.242CGC[1], XM_047433531.1:c.242CGC[2], XM_047433531.1:c.242CGC[3], XM_047433531.1:c.242CGC[5], XM_047433531.1:c.242CGC[6], XM_047433531.1:c.242CGC[7], XM_047433532.1:c.242CGC[1], XM_047433532.1:c.242CGC[2], XM_047433532.1:c.242CGC[3], XM_047433532.1:c.242CGC[5], XM_047433532.1:c.242CGC[6], XM_047433532.1:c.242CGC[7], NM_001387166.1:c.242CGC[1], NM_001387166.1:c.242CGC[2], NM_001387166.1:c.242CGC[3], NM_001387166.1:c.242CGC[5], NM_001387166.1:c.242CGC[6], NM_001387166.1:c.242CGC[7], XM_047433536.1:c.242CGC[1], XM_047433536.1:c.242CGC[2], XM_047433536.1:c.242CGC[3], XM_047433536.1:c.242CGC[5], XM_047433536.1:c.242CGC[6], XM_047433536.1:c.242CGC[7], XM_047433525.1:c.242CGC[1], XM_047433525.1:c.242CGC[2], XM_047433525.1:c.242CGC[3], XM_047433525.1:c.242CGC[5], XM_047433525.1:c.242CGC[6], XM_047433525.1:c.242CGC[7], NM_001387168.1:c.242CGC[1], NM_001387168.1:c.242CGC[2], NM_001387168.1:c.242CGC[3], NM_001387168.1:c.242CGC[5], NM_001387168.1:c.242CGC[6], NM_001387168.1:c.242CGC[7], XM_047433537.1:c.242CGC[1], XM_047433537.1:c.242CGC[2], XM_047433537.1:c.242CGC[3], XM_047433537.1:c.242CGC[5], XM_047433537.1:c.242CGC[6], XM_047433537.1:c.242CGC[7], NM_001387167.1:c.242CGC[1], NM_001387167.1:c.242CGC[2], NM_001387167.1:c.242CGC[3], NM_001387167.1:c.242CGC[5], NM_001387167.1:c.242CGC[6], NM_001387167.1:c.242CGC[7], NM_001387170.1:c.242CGC[1], NM_001387170.1:c.242CGC[2], NM_001387170.1:c.242CGC[3], NM_001387170.1:c.242CGC[5], NM_001387170.1:c.242CGC[6], NM_001387170.1:c.242CGC[7], NM_001387173.1:c.242CGC[1], NM_001387173.1:c.242CGC[2], NM_001387173.1:c.242CGC[3], NM_001387173.1:c.242CGC[5], NM_001387173.1:c.242CGC[6], NM_001387173.1:c.242CGC[7], NM_001387174.1:c.242CGC[1], NM_001387174.1:c.242CGC[2], NM_001387174.1:c.242CGC[3], NM_001387174.1:c.242CGC[5], NM_001387174.1:c.242CGC[6], NM_001387174.1:c.242CGC[7], NM_001387176.1:c.242CGC[1], NM_001387176.1:c.242CGC[2], NM_001387176.1:c.242CGC[3], NM_001387176.1:c.242CGC[5], NM_001387176.1:c.242CGC[6], NM_001387176.1:c.242CGC[7], NM_001387169.1:c.242CGC[1], NM_001387169.1:c.242CGC[2], NM_001387169.1:c.242CGC[3], NM_001387169.1:c.242CGC[5], NM_001387169.1:c.242CGC[6], NM_001387169.1:c.242CGC[7], NM_001387175.1:c.242CGC[1], NM_001387175.1:c.242CGC[2], NM_001387175.1:c.242CGC[3], NM_001387175.1:c.242CGC[5], NM_001387175.1:c.242CGC[6], NM_001387175.1:c.242CGC[7], NM_001387179.1:c.242CGC[1], NM_001387179.1:c.242CGC[2], NM_001387179.1:c.242CGC[3], NM_001387179.1:c.242CGC[5], NM_001387179.1:c.242CGC[6], NM_001387179.1:c.242CGC[7], NM_001387185.1:c.242CGC[1], NM_001387185.1:c.242CGC[2], NM_001387185.1:c.242CGC[3], NM_001387185.1:c.242CGC[5], NM_001387185.1:c.242CGC[6], NM_001387185.1:c.242CGC[7], XM_047433529.1:c.242CGC[1], XM_047433529.1:c.242CGC[2], XM_047433529.1:c.242CGC[3], XM_047433529.1:c.242CGC[5], XM_047433529.1:c.242CGC[6], XM_047433529.1:c.242CGC[7], NM_001387193.1:c.242CGC[1], NM_001387193.1:c.242CGC[2], NM_001387193.1:c.242CGC[3], NM_001387193.1:c.242CGC[5], NM_001387193.1:c.242CGC[6], NM_001387193.1:c.242CGC[7], NM_001387183.1:c.242CGC[1], NM_001387183.1:c.242CGC[2], NM_001387183.1:c.242CGC[3], NM_001387183.1:c.242CGC[5], NM_001387183.1:c.242CGC[6], NM_001387183.1:c.242CGC[7], NM_001387181.1:c.242CGC[1], NM_001387181.1:c.242CGC[2], NM_001387181.1:c.242CGC[3], NM_001387181.1:c.242CGC[5], NM_001387181.1:c.242CGC[6], NM_001387181.1:c.242CGC[7], NM_001387182.1:c.242CGC[1], NM_001387182.1:c.242CGC[2], NM_001387182.1:c.242CGC[3], NM_001387182.1:c.242CGC[5], NM_001387182.1:c.242CGC[6], NM_001387182.1:c.242CGC[7], NM_001387196.1:c.242CGC[1], NM_001387196.1:c.242CGC[2], NM_001387196.1:c.242CGC[3], NM_001387196.1:c.242CGC[5], NM_001387196.1:c.242CGC[6], NM_001387196.1:c.242CGC[7], XM_047433528.1:c.242CGC[1], XM_047433528.1:c.242CGC[2], XM_047433528.1:c.242CGC[3], XM_047433528.1:c.242CGC[5], XM_047433528.1:c.242CGC[6], XM_047433528.1:c.242CGC[7], NM_001387194.1:c.242CGC[1], NM_001387194.1:c.242CGC[2], NM_001387194.1:c.242CGC[3], NM_001387194.1:c.242CGC[5], NM_001387194.1:c.242CGC[6], NM_001387194.1:c.242CGC[7], NM_001387195.1:c.242CGC[1], NM_001387195.1:c.242CGC[2], NM_001387195.1:c.242CGC[3], NM_001387195.1:c.242CGC[5], NM_001387195.1:c.242CGC[6], NM_001387195.1:c.242CGC[7], XM_047433527.1:c.242CGC[1], XM_047433527.1:c.242CGC[2], XM_047433527.1:c.242CGC[3], XM_047433527.1:c.242CGC[5], XM_047433527.1:c.242CGC[6], XM_047433527.1:c.242CGC[7], NM_001387184.1:c.242CGC[1], NM_001387184.1:c.242CGC[2], NM_001387184.1:c.242CGC[3], NM_001387184.1:c.242CGC[5], NM_001387184.1:c.242CGC[6], NM_001387184.1:c.242CGC[7], NM_001387198.1:c.242CGC[1], NM_001387198.1:c.242CGC[2], NM_001387198.1:c.242CGC[3], NM_001387198.1:c.242CGC[5], NM_001387198.1:c.242CGC[6], NM_001387198.1:c.242CGC[7], NM_001387189.1:c.242CGC[1], NM_001387189.1:c.242CGC[2], NM_001387189.1:c.242CGC[3], NM_001387189.1:c.242CGC[5], NM_001387189.1:c.242CGC[6], NM_001387189.1:c.242CGC[7], NM_001387197.1:c.242CGC[1], NM_001387197.1:c.242CGC[2], NM_001387197.1:c.242CGC[3], NM_001387197.1:c.242CGC[5], NM_001387197.1:c.242CGC[6], NM_001387197.1:c.242CGC[7], NM_001387192.1:c.242CGC[1], NM_001387192.1:c.242CGC[2], NM_001387192.1:c.242CGC[3], NM_001387192.1:c.242CGC[5], NM_001387192.1:c.242CGC[6], NM_001387192.1:c.242CGC[7], NM_001387190.1:c.242CGC[1], NM_001387190.1:c.242CGC[2], NM_001387190.1:c.242CGC[3], NM_001387190.1:c.242CGC[5], NM_001387190.1:c.242CGC[6], NM_001387190.1:c.242CGC[7], NM_001387191.1:c.242CGC[1], NM_001387191.1:c.242CGC[2], NM_001387191.1:c.242CGC[3], NM_001387191.1:c.242CGC[5], NM_001387191.1:c.242CGC[6], NM_001387191.1:c.242CGC[7], NM_001387200.1:c.242CGC[1], NM_001387200.1:c.242CGC[2], NM_001387200.1:c.242CGC[3], NM_001387200.1:c.242CGC[5], NM_001387200.1:c.242CGC[6], NM_001387200.1:c.242CGC[7], XM_047433533.1:c.242CGC[1], XM_047433533.1:c.242CGC[2], XM_047433533.1:c.242CGC[3], XM_047433533.1:c.242CGC[5], XM_047433533.1:c.242CGC[6], XM_047433533.1:c.242CGC[7], XM_047433535.1:c.242CGC[1], XM_047433535.1:c.242CGC[2], XM_047433535.1:c.242CGC[3], XM_047433535.1:c.242CGC[5], XM_047433535.1:c.242CGC[6], XM_047433535.1:c.242CGC[7], NM_001387199.1:c.242CGC[1], NM_001387199.1:c.242CGC[2], NM_001387199.1:c.242CGC[3], NM_001387199.1:c.242CGC[5], NM_001387199.1:c.242CGC[6], NM_001387199.1:c.242CGC[7], NM_001387202.1:c.242CGC[1], NM_001387202.1:c.242CGC[2], NM_001387202.1:c.242CGC[3], NM_001387202.1:c.242CGC[5], NM_001387202.1:c.242CGC[6], NM_001387202.1:c.242CGC[7], NM_001387204.1:c.242CGC[1], NM_001387204.1:c.242CGC[2], NM_001387204.1:c.242CGC[3], NM_001387204.1:c.242CGC[5], NM_001387204.1:c.242CGC[6], NM_001387204.1:c.242CGC[7], NM_001387177.1:c.242CGC[1], NM_001387177.1:c.242CGC[2], NM_001387177.1:c.242CGC[3], NM_001387177.1:c.242CGC[5], NM_001387177.1:c.242CGC[6], NM_001387177.1:c.242CGC[7], XP_006721075.1:p.Pro82_Pro84del, XP_006721075.1:p.Pro83_Pro84del, XP_006721075.1:p.Pro84del, XP_006721075.1:p.Pro84dup, XP_006721075.1:p.Pro83_Pro84dup, XP_006721075.1:p.Pro82_Pro84dup, NP_009176.2:p.Pro82_Pro84del, NP_009176.2:p.Pro83_Pro84del, NP_009176.2:p.Pro84del, NP_009176.2:p.Pro84dup, NP_009176.2:p.Pro83_Pro84dup, NP_009176.2:p.Pro82_Pro84dup, NP_059867.3:p.Pro82_Pro84del, NP_059867.3:p.Pro83_Pro84del, NP_059867.3:p.Pro84del, NP_059867.3:p.Pro84dup, NP_059867.3:p.Pro83_Pro84dup, NP_059867.3:p.Pro82_Pro84dup, XP_011544021.1:p.Pro82_Pro84del, XP_011544021.1:p.Pro83_Pro84del, XP_011544021.1:p.Pro84del, XP_011544021.1:p.Pro84dup, XP_011544021.1:p.Pro83_Pro84dup, XP_011544021.1:p.Pro82_Pro84dup, NP_680780.1:p.Pro82_Pro84del, NP_680780.1:p.Pro83_Pro84del, NP_680780.1:p.Pro84del, NP_680780.1:p.Pro84dup, NP_680780.1:p.Pro83_Pro84dup, NP_680780.1:p.Pro82_Pro84dup, NP_663760.1:p.Pro82_Pro84del, NP_663760.1:p.Pro83_Pro84del, NP_663760.1:p.Pro84del, NP_663760.1:p.Pro84dup, NP_663760.1:p.Pro83_Pro84dup, NP_663760.1:p.Pro82_Pro84dup, NP_680781.1:p.Pro82_Pro84del, NP_680781.1:p.Pro83_Pro84del, NP_680781.1:p.Pro84del, NP_680781.1:p.Pro84dup, NP_680781.1:p.Pro83_Pro84dup, NP_680781.1:p.Pro82_Pro84dup, NP_680782.1:p.Pro82_Pro84del, NP_680782.1:p.Pro83_Pro84del, NP_680782.1:p.Pro84del, NP_680782.1:p.Pro84dup, NP_680782.1:p.Pro83_Pro84dup, NP_680782.1:p.Pro82_Pro84dup, XP_006721074.1:p.Pro82_Pro84del, XP_006721074.1:p.Pro83_Pro84del, XP_006721074.1:p.Pro84del, XP_006721074.1:p.Pro84dup, XP_006721074.1:p.Pro83_Pro84dup, XP_006721074.1:p.Pro82_Pro84dup, XP_005255119.1:p.Pro82_Pro84del, XP_005255119.1:p.Pro83_Pro84del, XP_005255119.1:p.Pro84del, XP_005255119.1:p.Pro84dup, XP_005255119.1:p.Pro83_Pro84dup, XP_005255119.1:p.Pro82_Pro84dup, NP_001295159.1:p.Pro82_Pro84del, NP_001295159.1:p.Pro83_Pro84del, NP_001295159.1:p.Pro84del, NP_001295159.1:p.Pro84dup, NP_001295159.1:p.Pro83_Pro84dup, NP_001295159.1:p.Pro82_Pro84dup, XP_005255131.1:p.Pro82_Pro84del, XP_005255131.1:p.Pro83_Pro84del, XP_005255131.1:p.Pro84del, XP_005255131.1:p.Pro84dup, XP_005255131.1:p.Pro83_Pro84dup, XP_005255131.1:p.Pro82_Pro84dup, NP_001374100.1:p.Pro82_Pro84del, NP_001374100.1:p.Pro83_Pro84del, NP_001374100.1:p.Pro84del, NP_001374100.1:p.Pro84dup, NP_001374100.1:p.Pro83_Pro84dup, NP_001374100.1:p.Pro82_Pro84dup, NP_001374101.1:p.Pro82_Pro84del, NP_001374101.1:p.Pro83_Pro84del, NP_001374101.1:p.Pro84del, NP_001374101.1:p.Pro84dup, NP_001374101.1:p.Pro83_Pro84dup, NP_001374101.1:p.Pro82_Pro84dup, NP_001374107.1:p.Pro82_Pro84del, NP_001374107.1:p.Pro83_Pro84del, NP_001374107.1:p.Pro84del, NP_001374107.1:p.Pro84dup, NP_001374107.1:p.Pro83_Pro84dup, NP_001374107.1:p.Pro82_Pro84dup, NP_001374109.1:p.Pro82_Pro84del, NP_001374109.1:p.Pro83_Pro84del, NP_001374109.1:p.Pro84del, NP_001374109.1:p.Pro84dup, NP_001374109.1:p.Pro83_Pro84dup, NP_001374109.1:p.Pro82_Pro84dup, XP_047289482.1:p.Pro82_Pro84del, XP_047289482.1:p.Pro83_Pro84del, XP_047289482.1:p.Pro84del, XP_047289482.1:p.Pro84dup, XP_047289482.1:p.Pro83_Pro84dup, XP_047289482.1:p.Pro82_Pro84dup, NP_001374116.1:p.Pro82_Pro84del, NP_001374116.1:p.Pro83_Pro84del, NP_001374116.1:p.Pro84del, NP_001374116.1:p.Pro84dup, NP_001374116.1:p.Pro83_Pro84dup, NP_001374116.1:p.Pro82_Pro84dup, NP_001374115.1:p.Pro82_Pro84del, NP_001374115.1:p.Pro83_Pro84del, NP_001374115.1:p.Pro84del, NP_001374115.1:p.Pro84dup, NP_001374115.1:p.Pro83_Pro84dup, NP_001374115.1:p.Pro82_Pro84dup, NP_001374117.1:p.Pro82_Pro84del, NP_001374117.1:p.Pro83_Pro84del, NP_001374117.1:p.Pro84del, NP_001374117.1:p.Pro84dup, NP_001374117.1:p.Pro83_Pro84dup, NP_001374117.1:p.Pro82_Pro84dup, NP_001374132.1:p.Pro82_Pro84del, NP_001374132.1:p.Pro83_Pro84del, NP_001374132.1:p.Pro84del, NP_001374132.1:p.Pro84dup, NP_001374132.1:p.Pro83_Pro84dup, NP_001374132.1:p.Pro82_Pro84dup, XP_047289486.1:p.Pro82_Pro84del, XP_047289486.1:p.Pro83_Pro84del, XP_047289486.1:p.Pro84del, XP_047289486.1:p.Pro84dup, XP_047289486.1:p.Pro83_Pro84dup, XP_047289486.1:p.Pro82_Pro84dup, XP_047289487.1:p.Pro82_Pro84del, XP_047289487.1:p.Pro83_Pro84del, XP_047289487.1:p.Pro84del, XP_047289487.1:p.Pro84dup, XP_047289487.1:p.Pro83_Pro84dup, XP_047289487.1:p.Pro82_Pro84dup, XP_047289488.1:p.Pro82_Pro84del, XP_047289488.1:p.Pro83_Pro84del, XP_047289488.1:p.Pro84del, XP_047289488.1:p.Pro84dup, XP_047289488.1:p.Pro83_Pro84dup, XP_047289488.1:p.Pro82_Pro84dup, NP_001374095.1:p.Pro82_Pro84del, NP_001374095.1:p.Pro83_Pro84del, NP_001374095.1:p.Pro84del, NP_001374095.1:p.Pro84dup, NP_001374095.1:p.Pro83_Pro84dup, NP_001374095.1:p.Pro82_Pro84dup, XP_047289492.1:p.Pro82_Pro84del, XP_047289492.1:p.Pro83_Pro84del, XP_047289492.1:p.Pro84del, XP_047289492.1:p.Pro84dup, XP_047289492.1:p.Pro83_Pro84dup, XP_047289492.1:p.Pro82_Pro84dup, XP_047289481.1:p.Pro82_Pro84del, XP_047289481.1:p.Pro83_Pro84del, XP_047289481.1:p.Pro84del, XP_047289481.1:p.Pro84dup, XP_047289481.1:p.Pro83_Pro84dup, XP_047289481.1:p.Pro82_Pro84dup, NP_001374097.1:p.Pro82_Pro84del, NP_001374097.1:p.Pro83_Pro84del, NP_001374097.1:p.Pro84del, NP_001374097.1:p.Pro84dup, NP_001374097.1:p.Pro83_Pro84dup, NP_001374097.1:p.Pro82_Pro84dup, XP_047289493.1:p.Pro82_Pro84del, XP_047289493.1:p.Pro83_Pro84del, XP_047289493.1:p.Pro84del, XP_047289493.1:p.Pro84dup, XP_047289493.1:p.Pro83_Pro84dup, XP_047289493.1:p.Pro82_Pro84dup, NP_001374096.1:p.Pro82_Pro84del, NP_001374096.1:p.Pro83_Pro84del, NP_001374096.1:p.Pro84del, NP_001374096.1:p.Pro84dup, NP_001374096.1:p.Pro83_Pro84dup, NP_001374096.1:p.Pro82_Pro84dup, NP_001374099.1:p.Pro82_Pro84del, NP_001374099.1:p.Pro83_Pro84del, NP_001374099.1:p.Pro84del, NP_001374099.1:p.Pro84dup, NP_001374099.1:p.Pro83_Pro84dup, NP_001374099.1:p.Pro82_Pro84dup, NP_001374102.1:p.Pro82_Pro84del, NP_001374102.1:p.Pro83_Pro84del, NP_001374102.1:p.Pro84del, NP_001374102.1:p.Pro84dup, NP_001374102.1:p.Pro83_Pro84dup, NP_001374102.1:p.Pro82_Pro84dup, NP_001374103.1:p.Pro82_Pro84del, NP_001374103.1:p.Pro83_Pro84del, NP_001374103.1:p.Pro84del, NP_001374103.1:p.Pro84dup, NP_001374103.1:p.Pro83_Pro84dup, NP_001374103.1:p.Pro82_Pro84dup, NP_001374105.1:p.Pro82_Pro84del, NP_001374105.1:p.Pro83_Pro84del, NP_001374105.1:p.Pro84del, NP_001374105.1:p.Pro84dup, NP_001374105.1:p.Pro83_Pro84dup, NP_001374105.1:p.Pro82_Pro84dup, NP_001374098.1:p.Pro82_Pro84del, NP_001374098.1:p.Pro83_Pro84del, NP_001374098.1:p.Pro84del, NP_001374098.1:p.Pro84dup, NP_001374098.1:p.Pro83_Pro84dup, NP_001374098.1:p.Pro82_Pro84dup, NP_001374104.1:p.Pro82_Pro84del, NP_001374104.1:p.Pro83_Pro84del, NP_001374104.1:p.Pro84del, NP_001374104.1:p.Pro84dup, NP_001374104.1:p.Pro83_Pro84dup, NP_001374104.1:p.Pro82_Pro84dup, NP_001374108.1:p.Pro82_Pro84del, NP_001374108.1:p.Pro83_Pro84del, NP_001374108.1:p.Pro84del, NP_001374108.1:p.Pro84dup, NP_001374108.1:p.Pro83_Pro84dup, NP_001374108.1:p.Pro82_Pro84dup, NP_001374114.1:p.Pro82_Pro84del, NP_001374114.1:p.Pro83_Pro84del, NP_001374114.1:p.Pro84del, NP_001374114.1:p.Pro84dup, NP_001374114.1:p.Pro83_Pro84dup, NP_001374114.1:p.Pro82_Pro84dup, XP_047289485.1:p.Pro82_Pro84del, XP_047289485.1:p.Pro83_Pro84del, XP_047289485.1:p.Pro84del, XP_047289485.1:p.Pro84dup, XP_047289485.1:p.Pro83_Pro84dup, XP_047289485.1:p.Pro82_Pro84dup, NP_001374122.1:p.Pro82_Pro84del, NP_001374122.1:p.Pro83_Pro84del, NP_001374122.1:p.Pro84del, NP_001374122.1:p.Pro84dup, NP_001374122.1:p.Pro83_Pro84dup, NP_001374122.1:p.Pro82_Pro84dup, NP_001374112.1:p.Pro82_Pro84del, NP_001374112.1:p.Pro83_Pro84del, NP_001374112.1:p.Pro84del, NP_001374112.1:p.Pro84dup, NP_001374112.1:p.Pro83_Pro84dup, NP_001374112.1:p.Pro82_Pro84dup, NP_001374110.1:p.Pro82_Pro84del, NP_001374110.1:p.Pro83_Pro84del, NP_001374110.1:p.Pro84del, NP_001374110.1:p.Pro84dup, NP_001374110.1:p.Pro83_Pro84dup, NP_001374110.1:p.Pro82_Pro84dup, NP_001374111.1:p.Pro82_Pro84del, NP_001374111.1:p.Pro83_Pro84del, NP_001374111.1:p.Pro84del, NP_001374111.1:p.Pro84dup, NP_001374111.1:p.Pro83_Pro84dup, NP_001374111.1:p.Pro82_Pro84dup, NP_001374125.1:p.Pro82_Pro84del, NP_001374125.1:p.Pro83_Pro84del, NP_001374125.1:p.Pro84del, NP_001374125.1:p.Pro84dup, NP_001374125.1:p.Pro83_Pro84dup, NP_001374125.1:p.Pro82_Pro84dup, XP_047289484.1:p.Pro82_Pro84del, XP_047289484.1:p.Pro83_Pro84del, XP_047289484.1:p.Pro84del, XP_047289484.1:p.Pro84dup, XP_047289484.1:p.Pro83_Pro84dup, XP_047289484.1:p.Pro82_Pro84dup, NP_001374123.1:p.Pro82_Pro84del, NP_001374123.1:p.Pro83_Pro84del, NP_001374123.1:p.Pro84del, NP_001374123.1:p.Pro84dup, NP_001374123.1:p.Pro83_Pro84dup, NP_001374123.1:p.Pro82_Pro84dup, NP_001374124.1:p.Pro82_Pro84del, NP_001374124.1:p.Pro83_Pro84del, NP_001374124.1:p.Pro84del, NP_001374124.1:p.Pro84dup, NP_001374124.1:p.Pro83_Pro84dup, NP_001374124.1:p.Pro82_Pro84dup, XP_047289483.1:p.Pro82_Pro84del, XP_047289483.1:p.Pro83_Pro84del, XP_047289483.1:p.Pro84del, XP_047289483.1:p.Pro84dup, XP_047289483.1:p.Pro83_Pro84dup, XP_047289483.1:p.Pro82_Pro84dup, NP_001374113.1:p.Pro82_Pro84del, NP_001374113.1:p.Pro83_Pro84del, NP_001374113.1:p.Pro84del, NP_001374113.1:p.Pro84dup, NP_001374113.1:p.Pro83_Pro84dup, NP_001374113.1:p.Pro82_Pro84dup, NP_001374127.1:p.Pro82_Pro84del, NP_001374127.1:p.Pro83_Pro84del, NP_001374127.1:p.Pro84del, NP_001374127.1:p.Pro84dup, NP_001374127.1:p.Pro83_Pro84dup, NP_001374127.1:p.Pro82_Pro84dup, NP_001374118.1:p.Pro82_Pro84del, NP_001374118.1:p.Pro83_Pro84del, NP_001374118.1:p.Pro84del, NP_001374118.1:p.Pro84dup, NP_001374118.1:p.Pro83_Pro84dup, NP_001374118.1:p.Pro82_Pro84dup, NP_001374126.1:p.Pro82_Pro84del, NP_001374126.1:p.Pro83_Pro84del, NP_001374126.1:p.Pro84del, NP_001374126.1:p.Pro84dup, NP_001374126.1:p.Pro83_Pro84dup, NP_001374126.1:p.Pro82_Pro84dup, NP_001374121.1:p.Pro82_Pro84del, NP_001374121.1:p.Pro83_Pro84del, NP_001374121.1:p.Pro84del, NP_001374121.1:p.Pro84dup, NP_001374121.1:p.Pro83_Pro84dup, NP_001374121.1:p.Pro82_Pro84dup, NP_001374119.1:p.Pro82_Pro84del, NP_001374119.1:p.Pro83_Pro84del, NP_001374119.1:p.Pro84del, NP_001374119.1:p.Pro84dup, NP_001374119.1:p.Pro83_Pro84dup, NP_001374119.1:p.Pro82_Pro84dup, NP_001374120.1:p.Pro82_Pro84del, NP_001374120.1:p.Pro83_Pro84del, NP_001374120.1:p.Pro84del, NP_001374120.1:p.Pro84dup, NP_001374120.1:p.Pro83_Pro84dup, NP_001374120.1:p.Pro82_Pro84dup, NP_001374129.1:p.Pro82_Pro84del, NP_001374129.1:p.Pro83_Pro84del, NP_001374129.1:p.Pro84del, NP_001374129.1:p.Pro84dup, NP_001374129.1:p.Pro83_Pro84dup, NP_001374129.1:p.Pro82_Pro84dup, XP_047289489.1:p.Pro82_Pro84del, XP_047289489.1:p.Pro83_Pro84del, XP_047289489.1:p.Pro84del, XP_047289489.1:p.Pro84dup, XP_047289489.1:p.Pro83_Pro84dup, XP_047289489.1:p.Pro82_Pro84dup, XP_047289491.1:p.Pro82_Pro84del, XP_047289491.1:p.Pro83_Pro84del, XP_047289491.1:p.Pro84del, XP_047289491.1:p.Pro84dup, XP_047289491.1:p.Pro83_Pro84dup, XP_047289491.1:p.Pro82_Pro84dup, NP_001374128.1:p.Pro82_Pro84del, NP_001374128.1:p.Pro83_Pro84del, NP_001374128.1:p.Pro84del, NP_001374128.1:p.Pro84dup, NP_001374128.1:p.Pro83_Pro84dup, NP_001374128.1:p.Pro82_Pro84dup, NP_001374131.1:p.Pro82_Pro84del, NP_001374131.1:p.Pro83_Pro84del, NP_001374131.1:p.Pro84del, NP_001374131.1:p.Pro84dup, NP_001374131.1:p.Pro83_Pro84dup, NP_001374131.1:p.Pro82_Pro84dup, NP_001374133.1:p.Pro82_Pro84del, NP_001374133.1:p.Pro83_Pro84del, NP_001374133.1:p.Pro84del, NP_001374133.1:p.Pro84dup, NP_001374133.1:p.Pro83_Pro84dup, NP_001374133.1:p.Pro82_Pro84dup, NP_001374106.1:p.Pro82_Pro84del, NP_001374106.1:p.Pro83_Pro84del, NP_001374106.1:p.Pro84del, NP_001374106.1:p.Pro84dup, NP_001374106.1:p.Pro83_Pro84dup, NP_001374106.1:p.Pro82_Pro84dup

          5.

          rs1482891890 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            16:28835117 (GRCh38)
            16:28846438 (GRCh37)
            Canonical SPDI:
            NC_000016.10:28835116:C:G
            Gene:
            ATXN2L (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            NC_000016.10:g.28835117C>G, NC_000016.9:g.28846438C>G, XM_006721012.5:c.2511C>G, XM_006721012.4:c.2511C>G, XM_006721012.3:c.2511C>G, XM_006721012.2:c.2511C>G, XM_006721012.1:c.2511C>G, NM_007245.4:c.2493C>G, NM_007245.3:c.2493C>G, NM_017492.4:c.2493C>G, NM_017492.3:c.2493C>G, XM_011545719.3:c.2511C>G, XM_011545719.2:c.2511C>G, XM_011545719.1:c.2511C>G, NM_148414.3:c.2493C>G, NM_148414.2:c.2493C>G, NM_145714.3:c.2493C>G, NM_145714.2:c.2493C>G, NM_148415.3:c.2493C>G, NM_148415.2:c.2493C>G, NM_148416.3:c.2493C>G, NM_148416.2:c.2493C>G, XM_006721011.2:c.2511C>G, XM_006721011.1:c.2511C>G, XM_005255062.2:c.2511C>G, XM_005255062.1:c.2511C>G, NM_001308230.2:c.2511C>G, NM_001308230.1:c.2511C>G, XM_005255074.2:c.2511C>G, XM_005255074.1:c.2511C>G, NM_001387171.1:c.2511C>G, NM_001387172.1:c.2511C>G, NM_001387178.1:c.2493C>G, NM_001387180.1:c.2493C>G, XM_047433526.1:c.2439C>G, NM_001387187.1:c.2424C>G, NM_001387186.1:c.2421C>G, NM_001387188.1:c.2421C>G, XM_047433534.1:c.2331C>G, NM_001387203.1:c.2304C>G, XM_047433538.1:c.2241C>G, XM_047433539.1:c.2241C>G, XM_047433530.1:c.2511C>G, XM_047433531.1:c.2493C>G, XM_047433532.1:c.2493C>G, NM_001387166.1:c.2511C>G, XM_047433536.1:c.2439C>G, XM_047433525.1:c.2511C>G, NM_001387168.1:c.2493C>G, XM_047433537.1:c.2421C>G, NM_001387167.1:c.2493C>G, NM_001387170.1:c.2511C>G, NM_001387173.1:c.2493C>G, NM_001387174.1:c.2493C>G, NM_001387176.1:c.2493C>G, NM_001387169.1:c.2511C>G, XM_047433544.1:c.2313C>G, XM_047433545.1:c.2313C>G, NM_001387175.1:c.2493C>G, NM_001387179.1:c.2421C>G, NM_001387185.1:c.2421C>G, XM_047433549.1:c.2241C>G, XM_047433529.1:c.2511C>G, NM_001387193.1:c.2511C>G, NM_001387183.1:c.2493C>G, NM_001387181.1:c.2511C>G, NM_001387182.1:c.2511C>G, NM_001387196.1:c.2493C>G, XM_047433528.1:c.2511C>G, NM_001387194.1:c.2493C>G, NM_001387195.1:c.2493C>G, XM_047433527.1:c.2511C>G, NM_001387184.1:c.2493C>G, NM_001387198.1:c.2493C>G, NM_001387189.1:c.2511C>G, NM_001387197.1:c.2439C>G, NM_001387192.1:c.2493C>G, NM_001387190.1:c.2511C>G, NM_001387191.1:c.2493C>G, NM_001387200.1:c.2439C>G, XM_047433533.1:c.2439C>G, XM_047433535.1:c.2421C>G, NM_001387199.1:c.2424C>G, NM_001387202.1:c.2421C>G, XM_047433540.1:c.2331C>G, XM_047433541.1:c.2331C>G, XM_047433542.1:c.2313C>G, XM_047433543.1:c.2313C>G, NM_001387204.1:c.2493C>G, NM_001387177.1:c.2493C>G, XM_047433546.1:c.2241C>G, XM_047433548.1:c.2241C>G

            6.

            rs1482655310 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              16:28823413 (GRCh38)
              16:28834734 (GRCh37)
              Canonical SPDI:
              NC_000016.10:28823412:C:A
              Gene:
              ATXN2L (Varview), LOC124903672 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_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_000016.10:g.28823413C>A, NC_000016.9:g.28834734C>A, XM_006721012.5:c.154C>A, XM_006721012.4:c.154C>A, XM_006721012.3:c.154C>A, XM_006721012.2:c.154C>A, XM_006721012.1:c.154C>A, NM_007245.4:c.154C>A, NM_007245.3:c.154C>A, NM_017492.4:c.154C>A, NM_017492.3:c.154C>A, XM_011545719.3:c.154C>A, XM_011545719.2:c.154C>A, XM_011545719.1:c.154C>A, NM_148414.3:c.154C>A, NM_148414.2:c.154C>A, NM_145714.3:c.154C>A, NM_145714.2:c.154C>A, NM_148415.3:c.154C>A, NM_148415.2:c.154C>A, NM_148416.3:c.154C>A, NM_148416.2:c.154C>A, XM_006721011.2:c.154C>A, XM_006721011.1:c.154C>A, XM_005255062.2:c.154C>A, XM_005255062.1:c.154C>A, NM_001308230.2:c.154C>A, NM_001308230.1:c.154C>A, XM_005255074.2:c.154C>A, XM_005255074.1:c.154C>A, NM_001387171.1:c.154C>A, NM_001387172.1:c.154C>A, NM_001387178.1:c.154C>A, NM_001387180.1:c.154C>A, XM_047433526.1:c.154C>A, NM_001387187.1:c.154C>A, NM_001387186.1:c.154C>A, NM_001387188.1:c.154C>A, NM_001387203.1:c.154C>A, XM_047433530.1:c.154C>A, XM_047433531.1:c.154C>A, XM_047433532.1:c.154C>A, NM_001387166.1:c.154C>A, XM_047433536.1:c.154C>A, XM_047433525.1:c.154C>A, NM_001387168.1:c.154C>A, XM_047433537.1:c.154C>A, NM_001387167.1:c.154C>A, NM_001387170.1:c.154C>A, NM_001387173.1:c.154C>A, NM_001387174.1:c.154C>A, NM_001387176.1:c.154C>A, NM_001387169.1:c.154C>A, NM_001387175.1:c.154C>A, NM_001387179.1:c.154C>A, NM_001387185.1:c.154C>A, XM_047433529.1:c.154C>A, NM_001387193.1:c.154C>A, NM_001387183.1:c.154C>A, NM_001387181.1:c.154C>A, NM_001387182.1:c.154C>A, NM_001387196.1:c.154C>A, XM_047433528.1:c.154C>A, NM_001387194.1:c.154C>A, NM_001387195.1:c.154C>A, XM_047433527.1:c.154C>A, NM_001387184.1:c.154C>A, NM_001387198.1:c.154C>A, NM_001387189.1:c.154C>A, NM_001387197.1:c.154C>A, NM_001387192.1:c.154C>A, NM_001387190.1:c.154C>A, NM_001387191.1:c.154C>A, NM_001387200.1:c.154C>A, XM_047433533.1:c.154C>A, XM_047433535.1:c.154C>A, NM_001387199.1:c.154C>A, NM_001387202.1:c.154C>A, NM_001387204.1:c.154C>A, NM_001387177.1:c.154C>A, XP_006721075.1:p.Pro52Thr, NP_009176.2:p.Pro52Thr, NP_059867.3:p.Pro52Thr, XP_011544021.1:p.Pro52Thr, NP_680780.1:p.Pro52Thr, NP_663760.1:p.Pro52Thr, NP_680781.1:p.Pro52Thr, NP_680782.1:p.Pro52Thr, XP_006721074.1:p.Pro52Thr, XP_005255119.1:p.Pro52Thr, NP_001295159.1:p.Pro52Thr, XP_005255131.1:p.Pro52Thr, NP_001374100.1:p.Pro52Thr, NP_001374101.1:p.Pro52Thr, NP_001374107.1:p.Pro52Thr, NP_001374109.1:p.Pro52Thr, XP_047289482.1:p.Pro52Thr, NP_001374116.1:p.Pro52Thr, NP_001374115.1:p.Pro52Thr, NP_001374117.1:p.Pro52Thr, NP_001374132.1:p.Pro52Thr, XP_047289486.1:p.Pro52Thr, XP_047289487.1:p.Pro52Thr, XP_047289488.1:p.Pro52Thr, NP_001374095.1:p.Pro52Thr, XP_047289492.1:p.Pro52Thr, XP_047289481.1:p.Pro52Thr, NP_001374097.1:p.Pro52Thr, XP_047289493.1:p.Pro52Thr, NP_001374096.1:p.Pro52Thr, NP_001374099.1:p.Pro52Thr, NP_001374102.1:p.Pro52Thr, NP_001374103.1:p.Pro52Thr, NP_001374105.1:p.Pro52Thr, NP_001374098.1:p.Pro52Thr, NP_001374104.1:p.Pro52Thr, NP_001374108.1:p.Pro52Thr, NP_001374114.1:p.Pro52Thr, XP_047289485.1:p.Pro52Thr, NP_001374122.1:p.Pro52Thr, NP_001374112.1:p.Pro52Thr, NP_001374110.1:p.Pro52Thr, NP_001374111.1:p.Pro52Thr, NP_001374125.1:p.Pro52Thr, XP_047289484.1:p.Pro52Thr, NP_001374123.1:p.Pro52Thr, NP_001374124.1:p.Pro52Thr, XP_047289483.1:p.Pro52Thr, NP_001374113.1:p.Pro52Thr, NP_001374127.1:p.Pro52Thr, NP_001374118.1:p.Pro52Thr, NP_001374126.1:p.Pro52Thr, NP_001374121.1:p.Pro52Thr, NP_001374119.1:p.Pro52Thr, NP_001374120.1:p.Pro52Thr, NP_001374129.1:p.Pro52Thr, XP_047289489.1:p.Pro52Thr, XP_047289491.1:p.Pro52Thr, NP_001374128.1:p.Pro52Thr, NP_001374131.1:p.Pro52Thr, NP_001374133.1:p.Pro52Thr, NP_001374106.1:p.Pro52Thr

              7.

              rs1479459001 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                16:28830674 (GRCh38)
                16:28841995 (GRCh37)
                Canonical SPDI:
                NC_000016.10:28830673:G:A
                Gene:
                ATXN2L (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                NC_000016.10:g.28830674G>A, NC_000016.9:g.28841995G>A, XM_006721012.5:c.1094G>A, XM_006721012.4:c.1094G>A, XM_006721012.3:c.1094G>A, XM_006721012.2:c.1094G>A, XM_006721012.1:c.1094G>A, NM_007245.4:c.1094G>A, NM_007245.3:c.1094G>A, NM_017492.4:c.1094G>A, NM_017492.3:c.1094G>A, XM_011545719.3:c.1094G>A, XM_011545719.2:c.1094G>A, XM_011545719.1:c.1094G>A, NM_148414.3:c.1094G>A, NM_148414.2:c.1094G>A, NM_145714.3:c.1094G>A, NM_145714.2:c.1094G>A, NM_148415.3:c.1094G>A, NM_148415.2:c.1094G>A, NM_148416.3:c.1094G>A, NM_148416.2:c.1094G>A, XM_006721011.2:c.1094G>A, XM_006721011.1:c.1094G>A, XM_005255062.2:c.1094G>A, XM_005255062.1:c.1094G>A, NM_001308230.2:c.1094G>A, NM_001308230.1:c.1094G>A, XM_005255074.2:c.1094G>A, XM_005255074.1:c.1094G>A, NM_001387171.1:c.1094G>A, NM_001387172.1:c.1094G>A, NM_001387178.1:c.1094G>A, NM_001387180.1:c.1094G>A, XM_047433526.1:c.1094G>A, NM_001387187.1:c.1094G>A, NM_001387186.1:c.1094G>A, NM_001387188.1:c.1094G>A, XM_047433534.1:c.914G>A, NM_001387203.1:c.928G>A, XM_047433538.1:c.914G>A, XM_047433539.1:c.914G>A, XM_047433530.1:c.1094G>A, XM_047433531.1:c.1094G>A, XM_047433532.1:c.1094G>A, NM_001387166.1:c.1094G>A, XM_047433536.1:c.1094G>A, XM_047433525.1:c.1094G>A, NM_001387168.1:c.1094G>A, XM_047433537.1:c.1094G>A, NM_001387167.1:c.1094G>A, NM_001387170.1:c.1094G>A, NM_001387173.1:c.1094G>A, NM_001387174.1:c.1094G>A, NM_001387176.1:c.1094G>A, NM_001387169.1:c.1094G>A, XM_047433544.1:c.914G>A, XM_047433545.1:c.914G>A, NM_001387175.1:c.1094G>A, NM_001387179.1:c.1094G>A, NM_001387185.1:c.1094G>A, XM_047433549.1:c.914G>A, XM_047433529.1:c.1094G>A, NM_001387193.1:c.1094G>A, NM_001387183.1:c.1094G>A, NM_001387181.1:c.1094G>A, NM_001387182.1:c.1094G>A, NM_001387196.1:c.1094G>A, XM_047433528.1:c.1094G>A, NM_001387194.1:c.1094G>A, NM_001387195.1:c.1094G>A, XM_047433527.1:c.1094G>A, NM_001387184.1:c.1094G>A, NM_001387198.1:c.1094G>A, NM_001387189.1:c.1094G>A, NM_001387197.1:c.1094G>A, NM_001387192.1:c.1094G>A, NM_001387190.1:c.1094G>A, NM_001387191.1:c.1094G>A, NM_001387200.1:c.1094G>A, XM_047433533.1:c.1094G>A, XM_047433535.1:c.1094G>A, NM_001387199.1:c.1094G>A, NM_001387202.1:c.1094G>A, XM_047433540.1:c.914G>A, XM_047433541.1:c.914G>A, XM_047433542.1:c.914G>A, XM_047433543.1:c.914G>A, NM_001387204.1:c.1094G>A, NM_001387177.1:c.1094G>A, XM_047433546.1:c.914G>A, XM_047433548.1:c.914G>A, XP_006721075.1:p.Arg365Gln, NP_009176.2:p.Arg365Gln, NP_059867.3:p.Arg365Gln, XP_011544021.1:p.Arg365Gln, NP_680780.1:p.Arg365Gln, NP_663760.1:p.Arg365Gln, NP_680781.1:p.Arg365Gln, NP_680782.1:p.Arg365Gln, XP_006721074.1:p.Arg365Gln, XP_005255119.1:p.Arg365Gln, NP_001295159.1:p.Arg365Gln, XP_005255131.1:p.Arg365Gln, NP_001374100.1:p.Arg365Gln, NP_001374101.1:p.Arg365Gln, NP_001374107.1:p.Arg365Gln, NP_001374109.1:p.Arg365Gln, XP_047289482.1:p.Arg365Gln, NP_001374116.1:p.Arg365Gln, NP_001374115.1:p.Arg365Gln, NP_001374117.1:p.Arg365Gln, XP_047289490.1:p.Arg305Gln, NP_001374132.1:p.Asp310Asn, XP_047289494.1:p.Arg305Gln, XP_047289495.1:p.Arg305Gln, XP_047289486.1:p.Arg365Gln, XP_047289487.1:p.Arg365Gln, XP_047289488.1:p.Arg365Gln, NP_001374095.1:p.Arg365Gln, XP_047289492.1:p.Arg365Gln, XP_047289481.1:p.Arg365Gln, NP_001374097.1:p.Arg365Gln, XP_047289493.1:p.Arg365Gln, NP_001374096.1:p.Arg365Gln, NP_001374099.1:p.Arg365Gln, NP_001374102.1:p.Arg365Gln, NP_001374103.1:p.Arg365Gln, NP_001374105.1:p.Arg365Gln, NP_001374098.1:p.Arg365Gln, XP_047289500.1:p.Arg305Gln, XP_047289501.1:p.Arg305Gln, NP_001374104.1:p.Arg365Gln, NP_001374108.1:p.Arg365Gln, NP_001374114.1:p.Arg365Gln, XP_047289505.1:p.Arg305Gln, XP_047289485.1:p.Arg365Gln, NP_001374122.1:p.Arg365Gln, NP_001374112.1:p.Arg365Gln, NP_001374110.1:p.Arg365Gln, NP_001374111.1:p.Arg365Gln, NP_001374125.1:p.Arg365Gln, XP_047289484.1:p.Arg365Gln, NP_001374123.1:p.Arg365Gln, NP_001374124.1:p.Arg365Gln, XP_047289483.1:p.Arg365Gln, NP_001374113.1:p.Arg365Gln, NP_001374127.1:p.Arg365Gln, NP_001374118.1:p.Arg365Gln, NP_001374126.1:p.Arg365Gln, NP_001374121.1:p.Arg365Gln, NP_001374119.1:p.Arg365Gln, NP_001374120.1:p.Arg365Gln, NP_001374129.1:p.Arg365Gln, XP_047289489.1:p.Arg365Gln, XP_047289491.1:p.Arg365Gln, NP_001374128.1:p.Arg365Gln, NP_001374131.1:p.Arg365Gln, XP_047289496.1:p.Arg305Gln, XP_047289497.1:p.Arg305Gln, XP_047289498.1:p.Arg305Gln, XP_047289499.1:p.Arg305Gln, NP_001374133.1:p.Arg365Gln, NP_001374106.1:p.Arg365Gln, XP_047289502.1:p.Arg305Gln, XP_047289504.1:p.Arg305Gln

                8.

                rs1478281306 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  16:28833342 (GRCh38)
                  16:28844663 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:28833341:G:T
                  Gene:
                  ATXN2L (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000016.10:g.28833342G>T, NC_000016.9:g.28844663G>T, XM_006721012.5:c.1961G>T, XM_006721012.4:c.1961G>T, XM_006721012.3:c.1961G>T, XM_006721012.2:c.1961G>T, XM_006721012.1:c.1961G>T, NM_007245.4:c.1943G>T, NM_007245.3:c.1943G>T, NM_017492.4:c.1943G>T, NM_017492.3:c.1943G>T, XM_011545719.3:c.1961G>T, XM_011545719.2:c.1961G>T, XM_011545719.1:c.1961G>T, NM_148414.3:c.1943G>T, NM_148414.2:c.1943G>T, NM_145714.3:c.1943G>T, NM_145714.2:c.1943G>T, NM_148415.3:c.1943G>T, NM_148415.2:c.1943G>T, NM_148416.3:c.1943G>T, NM_148416.2:c.1943G>T, XM_006721011.2:c.1961G>T, XM_006721011.1:c.1961G>T, XM_005255062.2:c.1961G>T, XM_005255062.1:c.1961G>T, NM_001308230.2:c.1961G>T, NM_001308230.1:c.1961G>T, XM_005255074.2:c.1961G>T, XM_005255074.1:c.1961G>T, NM_001387171.1:c.1961G>T, NM_001387172.1:c.1961G>T, NM_001387178.1:c.1943G>T, NM_001387180.1:c.1943G>T, XM_047433526.1:c.1889G>T, NM_001387187.1:c.1874G>T, NM_001387186.1:c.1871G>T, NM_001387188.1:c.1871G>T, XM_047433534.1:c.1781G>T, NM_001387203.1:c.1754G>T, XM_047433538.1:c.1691G>T, XM_047433539.1:c.1691G>T, XM_047433530.1:c.1961G>T, XM_047433531.1:c.1943G>T, XM_047433532.1:c.1943G>T, NM_001387166.1:c.1961G>T, XM_047433536.1:c.1889G>T, XM_047433525.1:c.1961G>T, NM_001387168.1:c.1943G>T, XM_047433537.1:c.1871G>T, NM_001387167.1:c.1943G>T, NM_001387170.1:c.1961G>T, NM_001387173.1:c.1943G>T, NM_001387174.1:c.1943G>T, NM_001387176.1:c.1943G>T, NM_001387169.1:c.1961G>T, XM_047433544.1:c.1763G>T, XM_047433545.1:c.1763G>T, NM_001387175.1:c.1943G>T, NM_001387179.1:c.1871G>T, NM_001387185.1:c.1871G>T, XM_047433549.1:c.1691G>T, XM_047433529.1:c.1961G>T, NM_001387193.1:c.1961G>T, NM_001387183.1:c.1943G>T, NM_001387181.1:c.1961G>T, NM_001387182.1:c.1961G>T, NM_001387196.1:c.1943G>T, XM_047433528.1:c.1961G>T, NM_001387194.1:c.1943G>T, NM_001387195.1:c.1943G>T, XM_047433527.1:c.1961G>T, NM_001387184.1:c.1943G>T, NM_001387198.1:c.1943G>T, NM_001387189.1:c.1961G>T, NM_001387197.1:c.1889G>T, NM_001387192.1:c.1943G>T, NM_001387190.1:c.1961G>T, NM_001387191.1:c.1943G>T, NM_001387200.1:c.1889G>T, XM_047433533.1:c.1889G>T, XM_047433535.1:c.1871G>T, NM_001387199.1:c.1874G>T, NM_001387202.1:c.1871G>T, XM_047433540.1:c.1781G>T, XM_047433541.1:c.1781G>T, XM_047433542.1:c.1763G>T, XM_047433543.1:c.1763G>T, NM_001387204.1:c.1943G>T, NM_001387177.1:c.1943G>T, XM_047433546.1:c.1691G>T, XM_047433548.1:c.1691G>T, XP_006721075.1:p.Gly654Val, NP_009176.2:p.Gly648Val, NP_059867.3:p.Gly648Val, XP_011544021.1:p.Gly654Val, NP_680780.1:p.Gly648Val, NP_663760.1:p.Gly648Val, NP_680781.1:p.Gly648Val, NP_680782.1:p.Gly648Val, XP_006721074.1:p.Gly654Val, XP_005255119.1:p.Gly654Val, NP_001295159.1:p.Gly654Val, XP_005255131.1:p.Gly654Val, NP_001374100.1:p.Gly654Val, NP_001374101.1:p.Gly654Val, NP_001374107.1:p.Gly648Val, NP_001374109.1:p.Gly648Val, XP_047289482.1:p.Gly630Val, NP_001374116.1:p.Gly625Val, NP_001374115.1:p.Gly624Val, NP_001374117.1:p.Gly624Val, XP_047289490.1:p.Gly594Val, NP_001374132.1:p.Gly585Val, XP_047289494.1:p.Gly564Val, XP_047289495.1:p.Gly564Val, XP_047289486.1:p.Gly654Val, XP_047289487.1:p.Gly648Val, XP_047289488.1:p.Gly648Val, NP_001374095.1:p.Gly654Val, XP_047289492.1:p.Gly630Val, XP_047289481.1:p.Gly654Val, NP_001374097.1:p.Gly648Val, XP_047289493.1:p.Gly624Val, NP_001374096.1:p.Gly648Val, NP_001374099.1:p.Gly654Val, NP_001374102.1:p.Gly648Val, NP_001374103.1:p.Gly648Val, NP_001374105.1:p.Gly648Val, NP_001374098.1:p.Gly654Val, XP_047289500.1:p.Gly588Val, XP_047289501.1:p.Gly588Val, NP_001374104.1:p.Gly648Val, NP_001374108.1:p.Gly624Val, NP_001374114.1:p.Gly624Val, XP_047289505.1:p.Gly564Val, XP_047289485.1:p.Gly654Val, NP_001374122.1:p.Gly654Val, NP_001374112.1:p.Gly648Val, NP_001374110.1:p.Gly654Val, NP_001374111.1:p.Gly654Val, NP_001374125.1:p.Gly648Val, XP_047289484.1:p.Gly654Val, NP_001374123.1:p.Gly648Val, NP_001374124.1:p.Gly648Val, XP_047289483.1:p.Gly654Val, NP_001374113.1:p.Gly648Val, NP_001374127.1:p.Gly648Val, NP_001374118.1:p.Gly654Val, NP_001374126.1:p.Gly630Val, NP_001374121.1:p.Gly648Val, NP_001374119.1:p.Gly654Val, NP_001374120.1:p.Gly648Val, NP_001374129.1:p.Gly630Val, XP_047289489.1:p.Gly630Val, XP_047289491.1:p.Gly624Val, NP_001374128.1:p.Gly625Val, NP_001374131.1:p.Gly624Val, XP_047289496.1:p.Gly594Val, XP_047289497.1:p.Gly594Val, XP_047289498.1:p.Gly588Val, XP_047289499.1:p.Gly588Val, NP_001374133.1:p.Gly648Val, NP_001374106.1:p.Gly648Val, XP_047289502.1:p.Gly564Val, XP_047289504.1:p.Gly564Val

                  9.

                  rs1477739695 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    16:28833328 (GRCh38)
                    16:28844649 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:28833327:A:G
                    Gene:
                    ATXN2L (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000051/1 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000016.10:g.28833328A>G, NC_000016.9:g.28844649A>G, XM_006721012.5:c.1947A>G, XM_006721012.4:c.1947A>G, XM_006721012.3:c.1947A>G, XM_006721012.2:c.1947A>G, XM_006721012.1:c.1947A>G, NM_007245.4:c.1929A>G, NM_007245.3:c.1929A>G, NM_017492.4:c.1929A>G, NM_017492.3:c.1929A>G, XM_011545719.3:c.1947A>G, XM_011545719.2:c.1947A>G, XM_011545719.1:c.1947A>G, NM_148414.3:c.1929A>G, NM_148414.2:c.1929A>G, NM_145714.3:c.1929A>G, NM_145714.2:c.1929A>G, NM_148415.3:c.1929A>G, NM_148415.2:c.1929A>G, NM_148416.3:c.1929A>G, NM_148416.2:c.1929A>G, XM_006721011.2:c.1947A>G, XM_006721011.1:c.1947A>G, XM_005255062.2:c.1947A>G, XM_005255062.1:c.1947A>G, NM_001308230.2:c.1947A>G, NM_001308230.1:c.1947A>G, XM_005255074.2:c.1947A>G, XM_005255074.1:c.1947A>G, NM_001387171.1:c.1947A>G, NM_001387172.1:c.1947A>G, NM_001387178.1:c.1929A>G, NM_001387180.1:c.1929A>G, XM_047433526.1:c.1875A>G, NM_001387187.1:c.1860A>G, NM_001387186.1:c.1857A>G, NM_001387188.1:c.1857A>G, XM_047433534.1:c.1767A>G, NM_001387203.1:c.1740A>G, XM_047433538.1:c.1677A>G, XM_047433539.1:c.1677A>G, XM_047433530.1:c.1947A>G, XM_047433531.1:c.1929A>G, XM_047433532.1:c.1929A>G, NM_001387166.1:c.1947A>G, XM_047433536.1:c.1875A>G, XM_047433525.1:c.1947A>G, NM_001387168.1:c.1929A>G, XM_047433537.1:c.1857A>G, NM_001387167.1:c.1929A>G, NM_001387170.1:c.1947A>G, NM_001387173.1:c.1929A>G, NM_001387174.1:c.1929A>G, NM_001387176.1:c.1929A>G, NM_001387169.1:c.1947A>G, XM_047433544.1:c.1749A>G, XM_047433545.1:c.1749A>G, NM_001387175.1:c.1929A>G, NM_001387179.1:c.1857A>G, NM_001387185.1:c.1857A>G, XM_047433549.1:c.1677A>G, XM_047433529.1:c.1947A>G, NM_001387193.1:c.1947A>G, NM_001387183.1:c.1929A>G, NM_001387181.1:c.1947A>G, NM_001387182.1:c.1947A>G, NM_001387196.1:c.1929A>G, XM_047433528.1:c.1947A>G, NM_001387194.1:c.1929A>G, NM_001387195.1:c.1929A>G, XM_047433527.1:c.1947A>G, NM_001387184.1:c.1929A>G, NM_001387198.1:c.1929A>G, NM_001387189.1:c.1947A>G, NM_001387197.1:c.1875A>G, NM_001387192.1:c.1929A>G, NM_001387190.1:c.1947A>G, NM_001387191.1:c.1929A>G, NM_001387200.1:c.1875A>G, XM_047433533.1:c.1875A>G, XM_047433535.1:c.1857A>G, NM_001387199.1:c.1860A>G, NM_001387202.1:c.1857A>G, XM_047433540.1:c.1767A>G, XM_047433541.1:c.1767A>G, XM_047433542.1:c.1749A>G, XM_047433543.1:c.1749A>G, NM_001387204.1:c.1929A>G, NM_001387177.1:c.1929A>G, XM_047433546.1:c.1677A>G, XM_047433548.1:c.1677A>G

                    10.

                    rs1475702655 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      16:28830754 (GRCh38)
                      16:28842075 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:28830753:C:G
                      Gene:
                      ATXN2L (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000016.10:g.28830754C>G, NC_000016.9:g.28842075C>G, XM_006721012.5:c.1174C>G, XM_006721012.4:c.1174C>G, XM_006721012.3:c.1174C>G, XM_006721012.2:c.1174C>G, XM_006721012.1:c.1174C>G, NM_007245.4:c.1174C>G, NM_007245.3:c.1174C>G, NM_017492.4:c.1174C>G, NM_017492.3:c.1174C>G, XM_011545719.3:c.1174C>G, XM_011545719.2:c.1174C>G, XM_011545719.1:c.1174C>G, NM_148414.3:c.1174C>G, NM_148414.2:c.1174C>G, NM_145714.3:c.1174C>G, NM_145714.2:c.1174C>G, NM_148415.3:c.1174C>G, NM_148415.2:c.1174C>G, NM_148416.3:c.1174C>G, NM_148416.2:c.1174C>G, XM_006721011.2:c.1174C>G, XM_006721011.1:c.1174C>G, XM_005255062.2:c.1174C>G, XM_005255062.1:c.1174C>G, NM_001308230.2:c.1174C>G, NM_001308230.1:c.1174C>G, XM_005255074.2:c.1174C>G, XM_005255074.1:c.1174C>G, NM_001387171.1:c.1174C>G, NM_001387172.1:c.1174C>G, NM_001387178.1:c.1174C>G, NM_001387180.1:c.1174C>G, XM_047433526.1:c.1174C>G, NM_001387187.1:c.1174C>G, NM_001387186.1:c.1174C>G, NM_001387188.1:c.1174C>G, XM_047433534.1:c.994C>G, NM_001387203.1:c.1008C>G, XM_047433538.1:c.994C>G, XM_047433539.1:c.994C>G, XM_047433530.1:c.1174C>G, XM_047433531.1:c.1174C>G, XM_047433532.1:c.1174C>G, NM_001387166.1:c.1174C>G, XM_047433536.1:c.1174C>G, XM_047433525.1:c.1174C>G, NM_001387168.1:c.1174C>G, XM_047433537.1:c.1174C>G, NM_001387167.1:c.1174C>G, NM_001387170.1:c.1174C>G, NM_001387173.1:c.1174C>G, NM_001387174.1:c.1174C>G, NM_001387176.1:c.1174C>G, NM_001387169.1:c.1174C>G, XM_047433544.1:c.994C>G, XM_047433545.1:c.994C>G, NM_001387175.1:c.1174C>G, NM_001387179.1:c.1174C>G, NM_001387185.1:c.1174C>G, XM_047433549.1:c.994C>G, XM_047433529.1:c.1174C>G, NM_001387193.1:c.1174C>G, NM_001387183.1:c.1174C>G, NM_001387181.1:c.1174C>G, NM_001387182.1:c.1174C>G, NM_001387196.1:c.1174C>G, XM_047433528.1:c.1174C>G, NM_001387194.1:c.1174C>G, NM_001387195.1:c.1174C>G, XM_047433527.1:c.1174C>G, NM_001387184.1:c.1174C>G, NM_001387198.1:c.1174C>G, NM_001387189.1:c.1174C>G, NM_001387197.1:c.1174C>G, NM_001387192.1:c.1174C>G, NM_001387190.1:c.1174C>G, NM_001387191.1:c.1174C>G, NM_001387200.1:c.1174C>G, XM_047433533.1:c.1174C>G, XM_047433535.1:c.1174C>G, NM_001387199.1:c.1174C>G, NM_001387202.1:c.1174C>G, XM_047433540.1:c.994C>G, XM_047433541.1:c.994C>G, XM_047433542.1:c.994C>G, XM_047433543.1:c.994C>G, NM_001387204.1:c.1174C>G, NM_001387177.1:c.1174C>G, XM_047433546.1:c.994C>G, XM_047433548.1:c.994C>G, XP_006721075.1:p.Pro392Ala, NP_009176.2:p.Pro392Ala, NP_059867.3:p.Pro392Ala, XP_011544021.1:p.Pro392Ala, NP_680780.1:p.Pro392Ala, NP_663760.1:p.Pro392Ala, NP_680781.1:p.Pro392Ala, NP_680782.1:p.Pro392Ala, XP_006721074.1:p.Pro392Ala, XP_005255119.1:p.Pro392Ala, NP_001295159.1:p.Pro392Ala, XP_005255131.1:p.Pro392Ala, NP_001374100.1:p.Pro392Ala, NP_001374101.1:p.Pro392Ala, NP_001374107.1:p.Pro392Ala, NP_001374109.1:p.Pro392Ala, XP_047289482.1:p.Pro392Ala, NP_001374116.1:p.Pro392Ala, NP_001374115.1:p.Pro392Ala, NP_001374117.1:p.Pro392Ala, XP_047289490.1:p.Pro332Ala, XP_047289494.1:p.Pro332Ala, XP_047289495.1:p.Pro332Ala, XP_047289486.1:p.Pro392Ala, XP_047289487.1:p.Pro392Ala, XP_047289488.1:p.Pro392Ala, NP_001374095.1:p.Pro392Ala, XP_047289492.1:p.Pro392Ala, XP_047289481.1:p.Pro392Ala, NP_001374097.1:p.Pro392Ala, XP_047289493.1:p.Pro392Ala, NP_001374096.1:p.Pro392Ala, NP_001374099.1:p.Pro392Ala, NP_001374102.1:p.Pro392Ala, NP_001374103.1:p.Pro392Ala, NP_001374105.1:p.Pro392Ala, NP_001374098.1:p.Pro392Ala, XP_047289500.1:p.Pro332Ala, XP_047289501.1:p.Pro332Ala, NP_001374104.1:p.Pro392Ala, NP_001374108.1:p.Pro392Ala, NP_001374114.1:p.Pro392Ala, XP_047289505.1:p.Pro332Ala, XP_047289485.1:p.Pro392Ala, NP_001374122.1:p.Pro392Ala, NP_001374112.1:p.Pro392Ala, NP_001374110.1:p.Pro392Ala, NP_001374111.1:p.Pro392Ala, NP_001374125.1:p.Pro392Ala, XP_047289484.1:p.Pro392Ala, NP_001374123.1:p.Pro392Ala, NP_001374124.1:p.Pro392Ala, XP_047289483.1:p.Pro392Ala, NP_001374113.1:p.Pro392Ala, NP_001374127.1:p.Pro392Ala, NP_001374118.1:p.Pro392Ala, NP_001374126.1:p.Pro392Ala, NP_001374121.1:p.Pro392Ala, NP_001374119.1:p.Pro392Ala, NP_001374120.1:p.Pro392Ala, NP_001374129.1:p.Pro392Ala, XP_047289489.1:p.Pro392Ala, XP_047289491.1:p.Pro392Ala, NP_001374128.1:p.Pro392Ala, NP_001374131.1:p.Pro392Ala, XP_047289496.1:p.Pro332Ala, XP_047289497.1:p.Pro332Ala, XP_047289498.1:p.Pro332Ala, XP_047289499.1:p.Pro332Ala, NP_001374133.1:p.Pro392Ala, NP_001374106.1:p.Pro392Ala, XP_047289502.1:p.Pro332Ala, XP_047289504.1:p.Pro332Ala

                      11.

                      rs1475639496 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        16:28836078 (GRCh38)
                        16:28847399 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:28836077:C:G
                        Gene:
                        ATXN2L (Varview)
                        Functional Consequence:
                        coding_sequence_variant,stop_gained,intron_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_000016.10:g.28836078C>G, NC_000016.9:g.28847399C>G, XM_006721012.5:c.3062C>G, XM_006721012.4:c.3062C>G, XM_006721012.3:c.3062C>G, XM_006721012.2:c.3062C>G, XM_006721012.1:c.3062C>G, NM_007245.4:c.3041C>G, NM_007245.3:c.3041C>G, NM_017492.4:c.3041C>G, NM_017492.3:c.3041C>G, XM_011545719.3:c.3062C>G, XM_011545719.2:c.3062C>G, XM_011545719.1:c.3062C>G, NM_148414.3:c.3041C>G, NM_148414.2:c.3041C>G, NM_145714.3:c.3041C>G, NM_145714.2:c.3041C>G, NM_148415.3:c.3041C>G, NM_148415.2:c.3041C>G, NM_148416.3:c.3041C>G, NM_148416.2:c.3041C>G, XM_006721011.2:c.3062C>G, XM_006721011.1:c.3062C>G, XM_005255062.2:c.3062C>G, XM_005255062.1:c.3062C>G, NM_001308230.2:c.3059C>G, NM_001308230.1:c.3059C>G, XM_005255074.2:c.3062C>G, XM_005255074.1:c.3062C>G, NM_001387171.1:c.3062C>G, NM_001387172.1:c.3059C>G, NM_001387178.1:c.3044C>G, NM_001387180.1:c.3035C>G, XM_047433526.1:c.2987C>G, NM_001387187.1:c.2972C>G, NM_001387186.1:c.2972C>G, NM_001387188.1:c.2969C>G, XM_047433534.1:c.2879C>G, NM_001387203.1:c.2852C>G, XM_047433538.1:c.2792C>G, XM_047433539.1:c.2789C>G, XM_047433530.1:c.3059C>G, XM_047433531.1:c.3044C>G, XM_047433532.1:c.3041C>G, NM_001387166.1:c.3059C>G, XM_047433536.1:c.2987C>G, XM_047433525.1:c.3062C>G, NM_001387168.1:c.3041C>G, XM_047433537.1:c.2969C>G, NM_001387167.1:c.3041C>G, NM_001387170.1:c.3059C>G, NM_001387173.1:c.3044C>G, NM_001387174.1:c.3041C>G, NM_001387176.1:c.3041C>G, NM_001387169.1:c.3059C>G, XM_047433544.1:c.2864C>G, XM_047433545.1:c.2861C>G, NM_001387175.1:c.3041C>G, NM_001387179.1:c.2969C>G, NM_001387185.1:c.2969C>G, XM_047433549.1:c.2792C>G, XM_047433529.1:c.3062C>G, NM_001387193.1:c.3059C>G, NM_001387183.1:c.3044C>G, NM_001387181.1:c.3062C>G, NM_001387182.1:c.3059C>G, NM_001387196.1:c.3041C>G, XM_047433528.1:c.3062C>G, NM_001387194.1:c.3044C>G, NM_001387195.1:c.3041C>G, XM_047433527.1:c.3062C>G, NM_001387184.1:c.3044C>G, NM_001387198.1:c.3041C>G, NM_001387189.1:c.3059C>G, NM_001387197.1:c.2987C>G, NM_001387192.1:c.3044C>G, NM_001387190.1:c.3059C>G, NM_001387191.1:c.3044C>G, NM_001387200.1:c.2987C>G, XM_047433533.1:c.2987C>G, XM_047433535.1:c.2972C>G, NM_001387199.1:c.2972C>G, NM_001387202.1:c.2969C>G, XM_047433540.1:c.2882C>G, XM_047433541.1:c.2879C>G, XM_047433542.1:c.2864C>G, XM_047433543.1:c.2861C>G, NM_001387177.1:c.3041C>G, XM_047433546.1:c.2792C>G, XM_047433548.1:c.2789C>G, XP_006721075.1:p.Ser1021Ter, NP_009176.2:p.Ser1014Ter, NP_059867.3:p.Ser1014Ter, XP_011544021.1:p.Ser1021Ter, NP_680780.1:p.Ser1014Ter, NP_663760.1:p.Ser1014Ter, NP_680781.1:p.Ser1014Ter, NP_680782.1:p.Ser1014Ter, XP_006721074.1:p.Ser1021Ter, XP_005255119.1:p.Ser1021Ter, NP_001295159.1:p.Ser1020Ter, XP_005255131.1:p.Ser1021Ter, NP_001374100.1:p.Ser1021Ter, NP_001374101.1:p.Ser1020Ter, NP_001374107.1:p.Ser1015Ter, NP_001374109.1:p.Ser1012Ter, XP_047289482.1:p.Ser996Ter, NP_001374116.1:p.Ser991Ter, NP_001374115.1:p.Ser991Ter, NP_001374117.1:p.Ser990Ter, XP_047289490.1:p.Ser960Ter, NP_001374132.1:p.Ser951Ter, XP_047289494.1:p.Ser931Ter, XP_047289495.1:p.Ser930Ter, XP_047289486.1:p.Ser1020Ter, XP_047289487.1:p.Ser1015Ter, XP_047289488.1:p.Ser1014Ter, NP_001374095.1:p.Ser1020Ter, XP_047289492.1:p.Ser996Ter, XP_047289481.1:p.Ser1021Ter, NP_001374097.1:p.Ser1014Ter, XP_047289493.1:p.Ser990Ter, NP_001374096.1:p.Ser1014Ter, NP_001374099.1:p.Ser1020Ter, NP_001374102.1:p.Ser1015Ter, NP_001374103.1:p.Ser1014Ter, NP_001374105.1:p.Ser1014Ter, NP_001374098.1:p.Ser1020Ter, XP_047289500.1:p.Ser955Ter, XP_047289501.1:p.Ser954Ter, NP_001374104.1:p.Ser1014Ter, NP_001374108.1:p.Ser990Ter, NP_001374114.1:p.Ser990Ter, XP_047289505.1:p.Ser931Ter, XP_047289485.1:p.Ser1021Ter, NP_001374122.1:p.Ser1020Ter, NP_001374112.1:p.Ser1015Ter, NP_001374110.1:p.Ser1021Ter, NP_001374111.1:p.Ser1020Ter, NP_001374125.1:p.Ser1014Ter, XP_047289484.1:p.Ser1021Ter, NP_001374123.1:p.Ser1015Ter, NP_001374124.1:p.Ser1014Ter, XP_047289483.1:p.Ser1021Ter, NP_001374113.1:p.Ser1015Ter, NP_001374127.1:p.Ser1014Ter, NP_001374118.1:p.Ser1020Ter, NP_001374126.1:p.Ser996Ter, NP_001374121.1:p.Ser1015Ter, NP_001374119.1:p.Ser1020Ter, NP_001374120.1:p.Ser1015Ter, NP_001374129.1:p.Ser996Ter, XP_047289489.1:p.Ser996Ter, XP_047289491.1:p.Ser991Ter, NP_001374128.1:p.Ser991Ter, NP_001374131.1:p.Ser990Ter, XP_047289496.1:p.Ser961Ter, XP_047289497.1:p.Ser960Ter, XP_047289498.1:p.Ser955Ter, XP_047289499.1:p.Ser954Ter, NP_001374106.1:p.Ser1014Ter, XP_047289502.1:p.Ser931Ter, XP_047289504.1:p.Ser930Ter

                        12.

                        rs1474255215 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          16:28829484 (GRCh38)
                          16:28840805 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:28829483:T:G
                          Gene:
                          ATXN2L (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,synonymous_variant
                          HGVS:
                          NC_000016.10:g.28829484T>G, NC_000016.9:g.28840805T>G, XM_006721012.5:c.825T>G, XM_006721012.4:c.825T>G, XM_006721012.3:c.825T>G, XM_006721012.2:c.825T>G, XM_006721012.1:c.825T>G, NM_007245.4:c.825T>G, NM_007245.3:c.825T>G, NM_017492.4:c.825T>G, NM_017492.3:c.825T>G, XM_011545719.3:c.825T>G, XM_011545719.2:c.825T>G, XM_011545719.1:c.825T>G, NM_148414.3:c.825T>G, NM_148414.2:c.825T>G, NM_145714.3:c.825T>G, NM_145714.2:c.825T>G, NM_148415.3:c.825T>G, NM_148415.2:c.825T>G, NM_148416.3:c.825T>G, NM_148416.2:c.825T>G, XM_006721011.2:c.825T>G, XM_006721011.1:c.825T>G, XM_005255062.2:c.825T>G, XM_005255062.1:c.825T>G, NM_001308230.2:c.825T>G, NM_001308230.1:c.825T>G, XM_005255074.2:c.825T>G, XM_005255074.1:c.825T>G, NM_001387171.1:c.825T>G, NM_001387172.1:c.825T>G, NM_001387178.1:c.825T>G, NM_001387180.1:c.825T>G, XM_047433526.1:c.825T>G, NM_001387187.1:c.825T>G, NM_001387186.1:c.825T>G, NM_001387188.1:c.825T>G, XM_047433534.1:c.645T>G, XM_047433538.1:c.645T>G, XM_047433539.1:c.645T>G, XM_047433530.1:c.825T>G, XM_047433531.1:c.825T>G, XM_047433532.1:c.825T>G, NM_001387166.1:c.825T>G, XM_047433536.1:c.825T>G, XM_047433525.1:c.825T>G, NM_001387168.1:c.825T>G, XM_047433537.1:c.825T>G, NM_001387167.1:c.825T>G, NM_001387170.1:c.825T>G, NM_001387173.1:c.825T>G, NM_001387174.1:c.825T>G, NM_001387176.1:c.825T>G, NM_001387169.1:c.825T>G, XM_047433544.1:c.645T>G, XM_047433545.1:c.645T>G, NM_001387175.1:c.825T>G, NM_001387179.1:c.825T>G, NM_001387185.1:c.825T>G, XM_047433549.1:c.645T>G, XM_047433529.1:c.825T>G, NM_001387193.1:c.825T>G, NM_001387183.1:c.825T>G, NM_001387181.1:c.825T>G, NM_001387182.1:c.825T>G, NM_001387196.1:c.825T>G, XM_047433528.1:c.825T>G, NM_001387194.1:c.825T>G, NM_001387195.1:c.825T>G, XM_047433527.1:c.825T>G, NM_001387184.1:c.825T>G, NM_001387198.1:c.825T>G, NM_001387189.1:c.825T>G, NM_001387197.1:c.825T>G, NM_001387192.1:c.825T>G, NM_001387190.1:c.825T>G, NM_001387191.1:c.825T>G, NM_001387200.1:c.825T>G, XM_047433533.1:c.825T>G, XM_047433535.1:c.825T>G, NM_001387199.1:c.825T>G, NM_001387202.1:c.825T>G, XM_047433540.1:c.645T>G, XM_047433541.1:c.645T>G, XM_047433542.1:c.645T>G, XM_047433543.1:c.645T>G, NM_001387204.1:c.825T>G, NM_001387177.1:c.825T>G, XM_047433546.1:c.645T>G, XM_047433548.1:c.645T>G

                          13.

                          rs1472168448 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            16:28825796 (GRCh38)
                            16:28837117 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:28825795:A:C
                            Gene:
                            ATXN2L (Varview), LOC124903672 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000016.10:g.28825796A>C, NC_000016.9:g.28837117A>C, XM_006721012.5:c.420A>C, XM_006721012.4:c.420A>C, XM_006721012.3:c.420A>C, XM_006721012.2:c.420A>C, XM_006721012.1:c.420A>C, NM_007245.4:c.420A>C, NM_007245.3:c.420A>C, NM_017492.4:c.420A>C, NM_017492.3:c.420A>C, XM_011545719.3:c.420A>C, XM_011545719.2:c.420A>C, XM_011545719.1:c.420A>C, NM_148414.3:c.420A>C, NM_148414.2:c.420A>C, NM_145714.3:c.420A>C, NM_145714.2:c.420A>C, NM_148415.3:c.420A>C, NM_148415.2:c.420A>C, NM_148416.3:c.420A>C, NM_148416.2:c.420A>C, XM_006721011.2:c.420A>C, XM_006721011.1:c.420A>C, XM_005255062.2:c.420A>C, XM_005255062.1:c.420A>C, NM_001308230.2:c.420A>C, NM_001308230.1:c.420A>C, XM_005255074.2:c.420A>C, XM_005255074.1:c.420A>C, NM_001387171.1:c.420A>C, NM_001387172.1:c.420A>C, NM_001387178.1:c.420A>C, NM_001387180.1:c.420A>C, XM_047433526.1:c.420A>C, NM_001387187.1:c.420A>C, NM_001387186.1:c.420A>C, NM_001387188.1:c.420A>C, XM_047433534.1:c.240A>C, NM_001387203.1:c.420A>C, XM_047433538.1:c.240A>C, XM_047433539.1:c.240A>C, XM_047433530.1:c.420A>C, XM_047433531.1:c.420A>C, XM_047433532.1:c.420A>C, NM_001387166.1:c.420A>C, XM_047433536.1:c.420A>C, XM_047433525.1:c.420A>C, NM_001387168.1:c.420A>C, XM_047433537.1:c.420A>C, NM_001387167.1:c.420A>C, NM_001387170.1:c.420A>C, NM_001387173.1:c.420A>C, NM_001387174.1:c.420A>C, NM_001387176.1:c.420A>C, NM_001387169.1:c.420A>C, XM_047433544.1:c.240A>C, XM_047433545.1:c.240A>C, NM_001387175.1:c.420A>C, NM_001387179.1:c.420A>C, NM_001387185.1:c.420A>C, XM_047433549.1:c.240A>C, XM_047433529.1:c.420A>C, NM_001387193.1:c.420A>C, NM_001387183.1:c.420A>C, NM_001387181.1:c.420A>C, NM_001387182.1:c.420A>C, NM_001387196.1:c.420A>C, XM_047433528.1:c.420A>C, NM_001387194.1:c.420A>C, NM_001387195.1:c.420A>C, XM_047433527.1:c.420A>C, NM_001387184.1:c.420A>C, NM_001387198.1:c.420A>C, NM_001387189.1:c.420A>C, NM_001387197.1:c.420A>C, NM_001387192.1:c.420A>C, NM_001387190.1:c.420A>C, NM_001387191.1:c.420A>C, NM_001387200.1:c.420A>C, XM_047433533.1:c.420A>C, XM_047433535.1:c.420A>C, NM_001387199.1:c.420A>C, NM_001387202.1:c.420A>C, XM_047433540.1:c.240A>C, XM_047433541.1:c.240A>C, XM_047433542.1:c.240A>C, XM_047433543.1:c.240A>C, NM_001387204.1:c.420A>C, NM_001387177.1:c.420A>C, XM_047433546.1:c.240A>C, XM_047433548.1:c.240A>C, XP_006721075.1:p.Lys140Asn, NP_009176.2:p.Lys140Asn, NP_059867.3:p.Lys140Asn, XP_011544021.1:p.Lys140Asn, NP_680780.1:p.Lys140Asn, NP_663760.1:p.Lys140Asn, NP_680781.1:p.Lys140Asn, NP_680782.1:p.Lys140Asn, XP_006721074.1:p.Lys140Asn, XP_005255119.1:p.Lys140Asn, NP_001295159.1:p.Lys140Asn, XP_005255131.1:p.Lys140Asn, NP_001374100.1:p.Lys140Asn, NP_001374101.1:p.Lys140Asn, NP_001374107.1:p.Lys140Asn, NP_001374109.1:p.Lys140Asn, XP_047289482.1:p.Lys140Asn, NP_001374116.1:p.Lys140Asn, NP_001374115.1:p.Lys140Asn, NP_001374117.1:p.Lys140Asn, XP_047289490.1:p.Lys80Asn, NP_001374132.1:p.Lys140Asn, XP_047289494.1:p.Lys80Asn, XP_047289495.1:p.Lys80Asn, XP_047289486.1:p.Lys140Asn, XP_047289487.1:p.Lys140Asn, XP_047289488.1:p.Lys140Asn, NP_001374095.1:p.Lys140Asn, XP_047289492.1:p.Lys140Asn, XP_047289481.1:p.Lys140Asn, NP_001374097.1:p.Lys140Asn, XP_047289493.1:p.Lys140Asn, NP_001374096.1:p.Lys140Asn, NP_001374099.1:p.Lys140Asn, NP_001374102.1:p.Lys140Asn, NP_001374103.1:p.Lys140Asn, NP_001374105.1:p.Lys140Asn, NP_001374098.1:p.Lys140Asn, XP_047289500.1:p.Lys80Asn, XP_047289501.1:p.Lys80Asn, NP_001374104.1:p.Lys140Asn, NP_001374108.1:p.Lys140Asn, NP_001374114.1:p.Lys140Asn, XP_047289505.1:p.Lys80Asn, XP_047289485.1:p.Lys140Asn, NP_001374122.1:p.Lys140Asn, NP_001374112.1:p.Lys140Asn, NP_001374110.1:p.Lys140Asn, NP_001374111.1:p.Lys140Asn, NP_001374125.1:p.Lys140Asn, XP_047289484.1:p.Lys140Asn, NP_001374123.1:p.Lys140Asn, NP_001374124.1:p.Lys140Asn, XP_047289483.1:p.Lys140Asn, NP_001374113.1:p.Lys140Asn, NP_001374127.1:p.Lys140Asn, NP_001374118.1:p.Lys140Asn, NP_001374126.1:p.Lys140Asn, NP_001374121.1:p.Lys140Asn, NP_001374119.1:p.Lys140Asn, NP_001374120.1:p.Lys140Asn, NP_001374129.1:p.Lys140Asn, XP_047289489.1:p.Lys140Asn, XP_047289491.1:p.Lys140Asn, NP_001374128.1:p.Lys140Asn, NP_001374131.1:p.Lys140Asn, XP_047289496.1:p.Lys80Asn, XP_047289497.1:p.Lys80Asn, XP_047289498.1:p.Lys80Asn, XP_047289499.1:p.Lys80Asn, NP_001374133.1:p.Lys140Asn, NP_001374106.1:p.Lys140Asn, XP_047289502.1:p.Lys80Asn, XP_047289504.1:p.Lys80Asn

                            14.

                            rs1470691071 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              16:28829976 (GRCh38)
                              16:28841297 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:28829975:G:A
                              Gene:
                              ATXN2L (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000016.10:g.28829976G>A, NC_000016.9:g.28841297G>A, XM_006721012.5:c.952G>A, XM_006721012.4:c.952G>A, XM_006721012.3:c.952G>A, XM_006721012.2:c.952G>A, XM_006721012.1:c.952G>A, NM_007245.4:c.952G>A, NM_007245.3:c.952G>A, NM_017492.4:c.952G>A, NM_017492.3:c.952G>A, XM_011545719.3:c.952G>A, XM_011545719.2:c.952G>A, XM_011545719.1:c.952G>A, NM_148414.3:c.952G>A, NM_148414.2:c.952G>A, NM_145714.3:c.952G>A, NM_145714.2:c.952G>A, NM_148415.3:c.952G>A, NM_148415.2:c.952G>A, NM_148416.3:c.952G>A, NM_148416.2:c.952G>A, XM_006721011.2:c.952G>A, XM_006721011.1:c.952G>A, XM_005255062.2:c.952G>A, XM_005255062.1:c.952G>A, NM_001308230.2:c.952G>A, NM_001308230.1:c.952G>A, XM_005255074.2:c.952G>A, XM_005255074.1:c.952G>A, NM_001387171.1:c.952G>A, NM_001387172.1:c.952G>A, NM_001387178.1:c.952G>A, NM_001387180.1:c.952G>A, XM_047433526.1:c.952G>A, NM_001387187.1:c.952G>A, NM_001387186.1:c.952G>A, NM_001387188.1:c.952G>A, XM_047433534.1:c.772G>A, NM_001387203.1:c.786G>A, XM_047433538.1:c.772G>A, XM_047433539.1:c.772G>A, XM_047433530.1:c.952G>A, XM_047433531.1:c.952G>A, XM_047433532.1:c.952G>A, NM_001387166.1:c.952G>A, XM_047433536.1:c.952G>A, XM_047433525.1:c.952G>A, NM_001387168.1:c.952G>A, XM_047433537.1:c.952G>A, NM_001387167.1:c.952G>A, NM_001387170.1:c.952G>A, NM_001387173.1:c.952G>A, NM_001387174.1:c.952G>A, NM_001387176.1:c.952G>A, NM_001387169.1:c.952G>A, XM_047433544.1:c.772G>A, XM_047433545.1:c.772G>A, NM_001387175.1:c.952G>A, NM_001387179.1:c.952G>A, NM_001387185.1:c.952G>A, XM_047433549.1:c.772G>A, XM_047433529.1:c.952G>A, NM_001387193.1:c.952G>A, NM_001387183.1:c.952G>A, NM_001387181.1:c.952G>A, NM_001387182.1:c.952G>A, NM_001387196.1:c.952G>A, XM_047433528.1:c.952G>A, NM_001387194.1:c.952G>A, NM_001387195.1:c.952G>A, XM_047433527.1:c.952G>A, NM_001387184.1:c.952G>A, NM_001387198.1:c.952G>A, NM_001387189.1:c.952G>A, NM_001387197.1:c.952G>A, NM_001387192.1:c.952G>A, NM_001387190.1:c.952G>A, NM_001387191.1:c.952G>A, NM_001387200.1:c.952G>A, XM_047433533.1:c.952G>A, XM_047433535.1:c.952G>A, NM_001387199.1:c.952G>A, NM_001387202.1:c.952G>A, XM_047433540.1:c.772G>A, XM_047433541.1:c.772G>A, XM_047433542.1:c.772G>A, XM_047433543.1:c.772G>A, NM_001387204.1:c.952G>A, NM_001387177.1:c.952G>A, XM_047433546.1:c.772G>A, XM_047433548.1:c.772G>A, XP_006721075.1:p.Asp318Asn, NP_009176.2:p.Asp318Asn, NP_059867.3:p.Asp318Asn, XP_011544021.1:p.Asp318Asn, NP_680780.1:p.Asp318Asn, NP_663760.1:p.Asp318Asn, NP_680781.1:p.Asp318Asn, NP_680782.1:p.Asp318Asn, XP_006721074.1:p.Asp318Asn, XP_005255119.1:p.Asp318Asn, NP_001295159.1:p.Asp318Asn, XP_005255131.1:p.Asp318Asn, NP_001374100.1:p.Asp318Asn, NP_001374101.1:p.Asp318Asn, NP_001374107.1:p.Asp318Asn, NP_001374109.1:p.Asp318Asn, XP_047289482.1:p.Asp318Asn, NP_001374116.1:p.Asp318Asn, NP_001374115.1:p.Asp318Asn, NP_001374117.1:p.Asp318Asn, XP_047289490.1:p.Asp258Asn, XP_047289494.1:p.Asp258Asn, XP_047289495.1:p.Asp258Asn, XP_047289486.1:p.Asp318Asn, XP_047289487.1:p.Asp318Asn, XP_047289488.1:p.Asp318Asn, NP_001374095.1:p.Asp318Asn, XP_047289492.1:p.Asp318Asn, XP_047289481.1:p.Asp318Asn, NP_001374097.1:p.Asp318Asn, XP_047289493.1:p.Asp318Asn, NP_001374096.1:p.Asp318Asn, NP_001374099.1:p.Asp318Asn, NP_001374102.1:p.Asp318Asn, NP_001374103.1:p.Asp318Asn, NP_001374105.1:p.Asp318Asn, NP_001374098.1:p.Asp318Asn, XP_047289500.1:p.Asp258Asn, XP_047289501.1:p.Asp258Asn, NP_001374104.1:p.Asp318Asn, NP_001374108.1:p.Asp318Asn, NP_001374114.1:p.Asp318Asn, XP_047289505.1:p.Asp258Asn, XP_047289485.1:p.Asp318Asn, NP_001374122.1:p.Asp318Asn, NP_001374112.1:p.Asp318Asn, NP_001374110.1:p.Asp318Asn, NP_001374111.1:p.Asp318Asn, NP_001374125.1:p.Asp318Asn, XP_047289484.1:p.Asp318Asn, NP_001374123.1:p.Asp318Asn, NP_001374124.1:p.Asp318Asn, XP_047289483.1:p.Asp318Asn, NP_001374113.1:p.Asp318Asn, NP_001374127.1:p.Asp318Asn, NP_001374118.1:p.Asp318Asn, NP_001374126.1:p.Asp318Asn, NP_001374121.1:p.Asp318Asn, NP_001374119.1:p.Asp318Asn, NP_001374120.1:p.Asp318Asn, NP_001374129.1:p.Asp318Asn, XP_047289489.1:p.Asp318Asn, XP_047289491.1:p.Asp318Asn, NP_001374128.1:p.Asp318Asn, NP_001374131.1:p.Asp318Asn, XP_047289496.1:p.Asp258Asn, XP_047289497.1:p.Asp258Asn, XP_047289498.1:p.Asp258Asn, XP_047289499.1:p.Asp258Asn, NP_001374133.1:p.Asp318Asn, NP_001374106.1:p.Asp318Asn, XP_047289502.1:p.Asp258Asn, XP_047289504.1:p.Asp258Asn

                              15.

                              rs1470531820 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                16:28834104 (GRCh38)
                                16:28845425 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:28834103:A:C
                                Gene:
                                ATXN2L (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                C=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000016.10:g.28834104A>C, NC_000016.9:g.28845425A>C, XM_006721012.5:c.2083A>C, XM_006721012.4:c.2083A>C, XM_006721012.3:c.2083A>C, XM_006721012.2:c.2083A>C, XM_006721012.1:c.2083A>C, NM_007245.4:c.2065A>C, NM_007245.3:c.2065A>C, NM_017492.4:c.2065A>C, NM_017492.3:c.2065A>C, XM_011545719.3:c.2083A>C, XM_011545719.2:c.2083A>C, XM_011545719.1:c.2083A>C, NM_148414.3:c.2065A>C, NM_148414.2:c.2065A>C, NM_145714.3:c.2065A>C, NM_145714.2:c.2065A>C, NM_148415.3:c.2065A>C, NM_148415.2:c.2065A>C, NM_148416.3:c.2065A>C, NM_148416.2:c.2065A>C, XM_006721011.2:c.2083A>C, XM_006721011.1:c.2083A>C, XM_005255062.2:c.2083A>C, XM_005255062.1:c.2083A>C, NM_001308230.2:c.2083A>C, NM_001308230.1:c.2083A>C, XM_005255074.2:c.2083A>C, XM_005255074.1:c.2083A>C, NM_001387171.1:c.2083A>C, NM_001387172.1:c.2083A>C, NM_001387178.1:c.2065A>C, NM_001387180.1:c.2065A>C, XM_047433526.1:c.2011A>C, NM_001387187.1:c.1996A>C, NM_001387186.1:c.1993A>C, NM_001387188.1:c.1993A>C, XM_047433534.1:c.1903A>C, NM_001387203.1:c.1876A>C, XM_047433538.1:c.1813A>C, XM_047433539.1:c.1813A>C, XM_047433530.1:c.2083A>C, XM_047433531.1:c.2065A>C, XM_047433532.1:c.2065A>C, NM_001387166.1:c.2083A>C, XM_047433536.1:c.2011A>C, XM_047433525.1:c.2083A>C, NM_001387168.1:c.2065A>C, XM_047433537.1:c.1993A>C, NM_001387167.1:c.2065A>C, NM_001387170.1:c.2083A>C, NM_001387173.1:c.2065A>C, NM_001387174.1:c.2065A>C, NM_001387176.1:c.2065A>C, NM_001387169.1:c.2083A>C, XM_047433544.1:c.1885A>C, XM_047433545.1:c.1885A>C, NM_001387175.1:c.2065A>C, NM_001387179.1:c.1993A>C, NM_001387185.1:c.1993A>C, XM_047433549.1:c.1813A>C, XM_047433529.1:c.2083A>C, NM_001387193.1:c.2083A>C, NM_001387183.1:c.2065A>C, NM_001387181.1:c.2083A>C, NM_001387182.1:c.2083A>C, NM_001387196.1:c.2065A>C, XM_047433528.1:c.2083A>C, NM_001387194.1:c.2065A>C, NM_001387195.1:c.2065A>C, XM_047433527.1:c.2083A>C, NM_001387184.1:c.2065A>C, NM_001387198.1:c.2065A>C, NM_001387189.1:c.2083A>C, NM_001387197.1:c.2011A>C, NM_001387192.1:c.2065A>C, NM_001387190.1:c.2083A>C, NM_001387191.1:c.2065A>C, NM_001387200.1:c.2011A>C, XM_047433533.1:c.2011A>C, XM_047433535.1:c.1993A>C, NM_001387199.1:c.1996A>C, NM_001387202.1:c.1993A>C, XM_047433540.1:c.1903A>C, XM_047433541.1:c.1903A>C, XM_047433542.1:c.1885A>C, XM_047433543.1:c.1885A>C, NM_001387204.1:c.2065A>C, NM_001387177.1:c.2065A>C, XM_047433546.1:c.1813A>C, XM_047433548.1:c.1813A>C, XP_006721075.1:p.Thr695Pro, NP_009176.2:p.Thr689Pro, NP_059867.3:p.Thr689Pro, XP_011544021.1:p.Thr695Pro, NP_680780.1:p.Thr689Pro, NP_663760.1:p.Thr689Pro, NP_680781.1:p.Thr689Pro, NP_680782.1:p.Thr689Pro, XP_006721074.1:p.Thr695Pro, XP_005255119.1:p.Thr695Pro, NP_001295159.1:p.Thr695Pro, XP_005255131.1:p.Thr695Pro, NP_001374100.1:p.Thr695Pro, NP_001374101.1:p.Thr695Pro, NP_001374107.1:p.Thr689Pro, NP_001374109.1:p.Thr689Pro, XP_047289482.1:p.Thr671Pro, NP_001374116.1:p.Thr666Pro, NP_001374115.1:p.Thr665Pro, NP_001374117.1:p.Thr665Pro, XP_047289490.1:p.Thr635Pro, NP_001374132.1:p.Thr626Pro, XP_047289494.1:p.Thr605Pro, XP_047289495.1:p.Thr605Pro, XP_047289486.1:p.Thr695Pro, XP_047289487.1:p.Thr689Pro, XP_047289488.1:p.Thr689Pro, NP_001374095.1:p.Thr695Pro, XP_047289492.1:p.Thr671Pro, XP_047289481.1:p.Thr695Pro, NP_001374097.1:p.Thr689Pro, XP_047289493.1:p.Thr665Pro, NP_001374096.1:p.Thr689Pro, NP_001374099.1:p.Thr695Pro, NP_001374102.1:p.Thr689Pro, NP_001374103.1:p.Thr689Pro, NP_001374105.1:p.Thr689Pro, NP_001374098.1:p.Thr695Pro, XP_047289500.1:p.Thr629Pro, XP_047289501.1:p.Thr629Pro, NP_001374104.1:p.Thr689Pro, NP_001374108.1:p.Thr665Pro, NP_001374114.1:p.Thr665Pro, XP_047289505.1:p.Thr605Pro, XP_047289485.1:p.Thr695Pro, NP_001374122.1:p.Thr695Pro, NP_001374112.1:p.Thr689Pro, NP_001374110.1:p.Thr695Pro, NP_001374111.1:p.Thr695Pro, NP_001374125.1:p.Thr689Pro, XP_047289484.1:p.Thr695Pro, NP_001374123.1:p.Thr689Pro, NP_001374124.1:p.Thr689Pro, XP_047289483.1:p.Thr695Pro, NP_001374113.1:p.Thr689Pro, NP_001374127.1:p.Thr689Pro, NP_001374118.1:p.Thr695Pro, NP_001374126.1:p.Thr671Pro, NP_001374121.1:p.Thr689Pro, NP_001374119.1:p.Thr695Pro, NP_001374120.1:p.Thr689Pro, NP_001374129.1:p.Thr671Pro, XP_047289489.1:p.Thr671Pro, XP_047289491.1:p.Thr665Pro, NP_001374128.1:p.Thr666Pro, NP_001374131.1:p.Thr665Pro, XP_047289496.1:p.Thr635Pro, XP_047289497.1:p.Thr635Pro, XP_047289498.1:p.Thr629Pro, XP_047289499.1:p.Thr629Pro, NP_001374133.1:p.Thr689Pro, NP_001374106.1:p.Thr689Pro, XP_047289502.1:p.Thr605Pro, XP_047289504.1:p.Thr605Pro

                                16.

                                rs1470248425 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  16:28834633 (GRCh38)
                                  16:28845954 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:28834632:C:T
                                  Gene:
                                  ATXN2L (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000016.10:g.28834633C>T, NC_000016.9:g.28845954C>T, XM_006721012.5:c.2391C>T, XM_006721012.4:c.2391C>T, XM_006721012.3:c.2391C>T, XM_006721012.2:c.2391C>T, XM_006721012.1:c.2391C>T, NM_007245.4:c.2373C>T, NM_007245.3:c.2373C>T, NM_017492.4:c.2373C>T, NM_017492.3:c.2373C>T, XM_011545719.3:c.2391C>T, XM_011545719.2:c.2391C>T, XM_011545719.1:c.2391C>T, NM_148414.3:c.2373C>T, NM_148414.2:c.2373C>T, NM_145714.3:c.2373C>T, NM_145714.2:c.2373C>T, NM_148415.3:c.2373C>T, NM_148415.2:c.2373C>T, NM_148416.3:c.2373C>T, NM_148416.2:c.2373C>T, XM_006721011.2:c.2391C>T, XM_006721011.1:c.2391C>T, XM_005255062.2:c.2391C>T, XM_005255062.1:c.2391C>T, NM_001308230.2:c.2391C>T, NM_001308230.1:c.2391C>T, XM_005255074.2:c.2391C>T, XM_005255074.1:c.2391C>T, NM_001387171.1:c.2391C>T, NM_001387172.1:c.2391C>T, NM_001387178.1:c.2373C>T, NM_001387180.1:c.2373C>T, XM_047433526.1:c.2319C>T, NM_001387187.1:c.2304C>T, NM_001387186.1:c.2301C>T, NM_001387188.1:c.2301C>T, XM_047433534.1:c.2211C>T, NM_001387203.1:c.2184C>T, XM_047433538.1:c.2121C>T, XM_047433539.1:c.2121C>T, XM_047433530.1:c.2391C>T, XM_047433531.1:c.2373C>T, XM_047433532.1:c.2373C>T, NM_001387166.1:c.2391C>T, XM_047433536.1:c.2319C>T, XM_047433525.1:c.2391C>T, NM_001387168.1:c.2373C>T, XM_047433537.1:c.2301C>T, NM_001387167.1:c.2373C>T, NM_001387170.1:c.2391C>T, NM_001387173.1:c.2373C>T, NM_001387174.1:c.2373C>T, NM_001387176.1:c.2373C>T, NM_001387169.1:c.2391C>T, XM_047433544.1:c.2193C>T, XM_047433545.1:c.2193C>T, NM_001387175.1:c.2373C>T, NM_001387179.1:c.2301C>T, NM_001387185.1:c.2301C>T, XM_047433549.1:c.2121C>T, XM_047433529.1:c.2391C>T, NM_001387193.1:c.2391C>T, NM_001387183.1:c.2373C>T, NM_001387181.1:c.2391C>T, NM_001387182.1:c.2391C>T, NM_001387196.1:c.2373C>T, XM_047433528.1:c.2391C>T, NM_001387194.1:c.2373C>T, NM_001387195.1:c.2373C>T, XM_047433527.1:c.2391C>T, NM_001387184.1:c.2373C>T, NM_001387198.1:c.2373C>T, NM_001387189.1:c.2391C>T, NM_001387197.1:c.2319C>T, NM_001387192.1:c.2373C>T, NM_001387190.1:c.2391C>T, NM_001387191.1:c.2373C>T, NM_001387200.1:c.2319C>T, XM_047433533.1:c.2319C>T, XM_047433535.1:c.2301C>T, NM_001387199.1:c.2304C>T, NM_001387202.1:c.2301C>T, XM_047433540.1:c.2211C>T, XM_047433541.1:c.2211C>T, XM_047433542.1:c.2193C>T, XM_047433543.1:c.2193C>T, NM_001387204.1:c.2373C>T, NM_001387177.1:c.2373C>T, XM_047433546.1:c.2121C>T, XM_047433548.1:c.2121C>T

                                  17.

                                  rs1467681661 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    16:28830736 (GRCh38)
                                    16:28842057 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:28830735:C:T
                                    Gene:
                                    ATXN2L (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000016.10:g.28830736C>T, NC_000016.9:g.28842057C>T, XM_006721012.5:c.1156C>T, XM_006721012.4:c.1156C>T, XM_006721012.3:c.1156C>T, XM_006721012.2:c.1156C>T, XM_006721012.1:c.1156C>T, NM_007245.4:c.1156C>T, NM_007245.3:c.1156C>T, NM_017492.4:c.1156C>T, NM_017492.3:c.1156C>T, XM_011545719.3:c.1156C>T, XM_011545719.2:c.1156C>T, XM_011545719.1:c.1156C>T, NM_148414.3:c.1156C>T, NM_148414.2:c.1156C>T, NM_145714.3:c.1156C>T, NM_145714.2:c.1156C>T, NM_148415.3:c.1156C>T, NM_148415.2:c.1156C>T, NM_148416.3:c.1156C>T, NM_148416.2:c.1156C>T, XM_006721011.2:c.1156C>T, XM_006721011.1:c.1156C>T, XM_005255062.2:c.1156C>T, XM_005255062.1:c.1156C>T, NM_001308230.2:c.1156C>T, NM_001308230.1:c.1156C>T, XM_005255074.2:c.1156C>T, XM_005255074.1:c.1156C>T, NM_001387171.1:c.1156C>T, NM_001387172.1:c.1156C>T, NM_001387178.1:c.1156C>T, NM_001387180.1:c.1156C>T, XM_047433526.1:c.1156C>T, NM_001387187.1:c.1156C>T, NM_001387186.1:c.1156C>T, NM_001387188.1:c.1156C>T, XM_047433534.1:c.976C>T, NM_001387203.1:c.990C>T, XM_047433538.1:c.976C>T, XM_047433539.1:c.976C>T, XM_047433530.1:c.1156C>T, XM_047433531.1:c.1156C>T, XM_047433532.1:c.1156C>T, NM_001387166.1:c.1156C>T, XM_047433536.1:c.1156C>T, XM_047433525.1:c.1156C>T, NM_001387168.1:c.1156C>T, XM_047433537.1:c.1156C>T, NM_001387167.1:c.1156C>T, NM_001387170.1:c.1156C>T, NM_001387173.1:c.1156C>T, NM_001387174.1:c.1156C>T, NM_001387176.1:c.1156C>T, NM_001387169.1:c.1156C>T, XM_047433544.1:c.976C>T, XM_047433545.1:c.976C>T, NM_001387175.1:c.1156C>T, NM_001387179.1:c.1156C>T, NM_001387185.1:c.1156C>T, XM_047433549.1:c.976C>T, XM_047433529.1:c.1156C>T, NM_001387193.1:c.1156C>T, NM_001387183.1:c.1156C>T, NM_001387181.1:c.1156C>T, NM_001387182.1:c.1156C>T, NM_001387196.1:c.1156C>T, XM_047433528.1:c.1156C>T, NM_001387194.1:c.1156C>T, NM_001387195.1:c.1156C>T, XM_047433527.1:c.1156C>T, NM_001387184.1:c.1156C>T, NM_001387198.1:c.1156C>T, NM_001387189.1:c.1156C>T, NM_001387197.1:c.1156C>T, NM_001387192.1:c.1156C>T, NM_001387190.1:c.1156C>T, NM_001387191.1:c.1156C>T, NM_001387200.1:c.1156C>T, XM_047433533.1:c.1156C>T, XM_047433535.1:c.1156C>T, NM_001387199.1:c.1156C>T, NM_001387202.1:c.1156C>T, XM_047433540.1:c.976C>T, XM_047433541.1:c.976C>T, XM_047433542.1:c.976C>T, XM_047433543.1:c.976C>T, NM_001387204.1:c.1156C>T, NM_001387177.1:c.1156C>T, XM_047433546.1:c.976C>T, XM_047433548.1:c.976C>T, XP_006721075.1:p.His386Tyr, NP_009176.2:p.His386Tyr, NP_059867.3:p.His386Tyr, XP_011544021.1:p.His386Tyr, NP_680780.1:p.His386Tyr, NP_663760.1:p.His386Tyr, NP_680781.1:p.His386Tyr, NP_680782.1:p.His386Tyr, XP_006721074.1:p.His386Tyr, XP_005255119.1:p.His386Tyr, NP_001295159.1:p.His386Tyr, XP_005255131.1:p.His386Tyr, NP_001374100.1:p.His386Tyr, NP_001374101.1:p.His386Tyr, NP_001374107.1:p.His386Tyr, NP_001374109.1:p.His386Tyr, XP_047289482.1:p.His386Tyr, NP_001374116.1:p.His386Tyr, NP_001374115.1:p.His386Tyr, NP_001374117.1:p.His386Tyr, XP_047289490.1:p.His326Tyr, XP_047289494.1:p.His326Tyr, XP_047289495.1:p.His326Tyr, XP_047289486.1:p.His386Tyr, XP_047289487.1:p.His386Tyr, XP_047289488.1:p.His386Tyr, NP_001374095.1:p.His386Tyr, XP_047289492.1:p.His386Tyr, XP_047289481.1:p.His386Tyr, NP_001374097.1:p.His386Tyr, XP_047289493.1:p.His386Tyr, NP_001374096.1:p.His386Tyr, NP_001374099.1:p.His386Tyr, NP_001374102.1:p.His386Tyr, NP_001374103.1:p.His386Tyr, NP_001374105.1:p.His386Tyr, NP_001374098.1:p.His386Tyr, XP_047289500.1:p.His326Tyr, XP_047289501.1:p.His326Tyr, NP_001374104.1:p.His386Tyr, NP_001374108.1:p.His386Tyr, NP_001374114.1:p.His386Tyr, XP_047289505.1:p.His326Tyr, XP_047289485.1:p.His386Tyr, NP_001374122.1:p.His386Tyr, NP_001374112.1:p.His386Tyr, NP_001374110.1:p.His386Tyr, NP_001374111.1:p.His386Tyr, NP_001374125.1:p.His386Tyr, XP_047289484.1:p.His386Tyr, NP_001374123.1:p.His386Tyr, NP_001374124.1:p.His386Tyr, XP_047289483.1:p.His386Tyr, NP_001374113.1:p.His386Tyr, NP_001374127.1:p.His386Tyr, NP_001374118.1:p.His386Tyr, NP_001374126.1:p.His386Tyr, NP_001374121.1:p.His386Tyr, NP_001374119.1:p.His386Tyr, NP_001374120.1:p.His386Tyr, NP_001374129.1:p.His386Tyr, XP_047289489.1:p.His386Tyr, XP_047289491.1:p.His386Tyr, NP_001374128.1:p.His386Tyr, NP_001374131.1:p.His386Tyr, XP_047289496.1:p.His326Tyr, XP_047289497.1:p.His326Tyr, XP_047289498.1:p.His326Tyr, XP_047289499.1:p.His326Tyr, NP_001374133.1:p.His386Tyr, NP_001374106.1:p.His386Tyr, XP_047289502.1:p.His326Tyr, XP_047289504.1:p.His326Tyr

                                    18.

                                    rs1466667595 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      16:28832233 (GRCh38)
                                      16:28843554 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:28832232:C:T
                                      Gene:
                                      ATXN2L (Varview)
                                      Functional Consequence:
                                      intron_variant,synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000016.10:g.28832233C>T, NC_000016.9:g.28843554C>T, XM_006721012.5:c.1368C>T, XM_006721012.4:c.1368C>T, XM_006721012.3:c.1368C>T, XM_006721012.2:c.1368C>T, XM_006721012.1:c.1368C>T, NM_007245.4:c.1350C>T, NM_007245.3:c.1350C>T, NM_017492.4:c.1350C>T, NM_017492.3:c.1350C>T, XM_011545719.3:c.1368C>T, XM_011545719.2:c.1368C>T, XM_011545719.1:c.1368C>T, NM_148414.3:c.1350C>T, NM_148414.2:c.1350C>T, NM_145714.3:c.1350C>T, NM_145714.2:c.1350C>T, NM_148415.3:c.1350C>T, NM_148415.2:c.1350C>T, NM_148416.3:c.1350C>T, NM_148416.2:c.1350C>T, XM_006721011.2:c.1368C>T, XM_006721011.1:c.1368C>T, XM_005255062.2:c.1368C>T, XM_005255062.1:c.1368C>T, NM_001308230.2:c.1368C>T, NM_001308230.1:c.1368C>T, XM_005255074.2:c.1368C>T, XM_005255074.1:c.1368C>T, NM_001387171.1:c.1368C>T, NM_001387172.1:c.1368C>T, NM_001387178.1:c.1350C>T, NM_001387180.1:c.1350C>T, XM_047433526.1:c.1368C>T, NM_001387186.1:c.1350C>T, NM_001387188.1:c.1350C>T, XM_047433534.1:c.1188C>T, NM_001387203.1:c.1161C>T, XM_047433538.1:c.1170C>T, XM_047433539.1:c.1170C>T, XM_047433530.1:c.1368C>T, XM_047433531.1:c.1350C>T, XM_047433532.1:c.1350C>T, NM_001387166.1:c.1368C>T, XM_047433536.1:c.1368C>T, XM_047433525.1:c.1368C>T, NM_001387168.1:c.1350C>T, XM_047433537.1:c.1350C>T, NM_001387167.1:c.1350C>T, NM_001387170.1:c.1368C>T, NM_001387173.1:c.1350C>T, NM_001387174.1:c.1350C>T, NM_001387176.1:c.1350C>T, NM_001387169.1:c.1368C>T, XM_047433544.1:c.1170C>T, XM_047433545.1:c.1170C>T, NM_001387175.1:c.1350C>T, NM_001387179.1:c.1350C>T, NM_001387185.1:c.1350C>T, XM_047433549.1:c.1170C>T, XM_047433529.1:c.1368C>T, NM_001387193.1:c.1368C>T, NM_001387183.1:c.1350C>T, NM_001387181.1:c.1368C>T, NM_001387182.1:c.1368C>T, NM_001387196.1:c.1350C>T, XM_047433528.1:c.1368C>T, NM_001387194.1:c.1350C>T, NM_001387195.1:c.1350C>T, XM_047433527.1:c.1368C>T, NM_001387184.1:c.1350C>T, NM_001387198.1:c.1350C>T, NM_001387189.1:c.1368C>T, NM_001387197.1:c.1368C>T, NM_001387192.1:c.1350C>T, NM_001387190.1:c.1368C>T, NM_001387191.1:c.1350C>T, NM_001387200.1:c.1368C>T, XM_047433533.1:c.1368C>T, XM_047433535.1:c.1350C>T, NM_001387202.1:c.1350C>T, XM_047433540.1:c.1188C>T, XM_047433541.1:c.1188C>T, XM_047433542.1:c.1170C>T, XM_047433543.1:c.1170C>T, NM_001387204.1:c.1350C>T, NM_001387177.1:c.1350C>T, XM_047433546.1:c.1170C>T, XM_047433548.1:c.1170C>T

                                      19.

                                      rs1466515495 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        16:28829977 (GRCh38)
                                        16:28841298 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:28829976:A:G
                                        Gene:
                                        ATXN2L (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000016.10:g.28829977A>G, NC_000016.9:g.28841298A>G, XM_006721012.5:c.953A>G, XM_006721012.4:c.953A>G, XM_006721012.3:c.953A>G, XM_006721012.2:c.953A>G, XM_006721012.1:c.953A>G, NM_007245.4:c.953A>G, NM_007245.3:c.953A>G, NM_017492.4:c.953A>G, NM_017492.3:c.953A>G, XM_011545719.3:c.953A>G, XM_011545719.2:c.953A>G, XM_011545719.1:c.953A>G, NM_148414.3:c.953A>G, NM_148414.2:c.953A>G, NM_145714.3:c.953A>G, NM_145714.2:c.953A>G, NM_148415.3:c.953A>G, NM_148415.2:c.953A>G, NM_148416.3:c.953A>G, NM_148416.2:c.953A>G, XM_006721011.2:c.953A>G, XM_006721011.1:c.953A>G, XM_005255062.2:c.953A>G, XM_005255062.1:c.953A>G, NM_001308230.2:c.953A>G, NM_001308230.1:c.953A>G, XM_005255074.2:c.953A>G, XM_005255074.1:c.953A>G, NM_001387171.1:c.953A>G, NM_001387172.1:c.953A>G, NM_001387178.1:c.953A>G, NM_001387180.1:c.953A>G, XM_047433526.1:c.953A>G, NM_001387187.1:c.953A>G, NM_001387186.1:c.953A>G, NM_001387188.1:c.953A>G, XM_047433534.1:c.773A>G, NM_001387203.1:c.787A>G, XM_047433538.1:c.773A>G, XM_047433539.1:c.773A>G, XM_047433530.1:c.953A>G, XM_047433531.1:c.953A>G, XM_047433532.1:c.953A>G, NM_001387166.1:c.953A>G, XM_047433536.1:c.953A>G, XM_047433525.1:c.953A>G, NM_001387168.1:c.953A>G, XM_047433537.1:c.953A>G, NM_001387167.1:c.953A>G, NM_001387170.1:c.953A>G, NM_001387173.1:c.953A>G, NM_001387174.1:c.953A>G, NM_001387176.1:c.953A>G, NM_001387169.1:c.953A>G, XM_047433544.1:c.773A>G, XM_047433545.1:c.773A>G, NM_001387175.1:c.953A>G, NM_001387179.1:c.953A>G, NM_001387185.1:c.953A>G, XM_047433549.1:c.773A>G, XM_047433529.1:c.953A>G, NM_001387193.1:c.953A>G, NM_001387183.1:c.953A>G, NM_001387181.1:c.953A>G, NM_001387182.1:c.953A>G, NM_001387196.1:c.953A>G, XM_047433528.1:c.953A>G, NM_001387194.1:c.953A>G, NM_001387195.1:c.953A>G, XM_047433527.1:c.953A>G, NM_001387184.1:c.953A>G, NM_001387198.1:c.953A>G, NM_001387189.1:c.953A>G, NM_001387197.1:c.953A>G, NM_001387192.1:c.953A>G, NM_001387190.1:c.953A>G, NM_001387191.1:c.953A>G, NM_001387200.1:c.953A>G, XM_047433533.1:c.953A>G, XM_047433535.1:c.953A>G, NM_001387199.1:c.953A>G, NM_001387202.1:c.953A>G, XM_047433540.1:c.773A>G, XM_047433541.1:c.773A>G, XM_047433542.1:c.773A>G, XM_047433543.1:c.773A>G, NM_001387204.1:c.953A>G, NM_001387177.1:c.953A>G, XM_047433546.1:c.773A>G, XM_047433548.1:c.773A>G, XP_006721075.1:p.Asp318Gly, NP_009176.2:p.Asp318Gly, NP_059867.3:p.Asp318Gly, XP_011544021.1:p.Asp318Gly, NP_680780.1:p.Asp318Gly, NP_663760.1:p.Asp318Gly, NP_680781.1:p.Asp318Gly, NP_680782.1:p.Asp318Gly, XP_006721074.1:p.Asp318Gly, XP_005255119.1:p.Asp318Gly, NP_001295159.1:p.Asp318Gly, XP_005255131.1:p.Asp318Gly, NP_001374100.1:p.Asp318Gly, NP_001374101.1:p.Asp318Gly, NP_001374107.1:p.Asp318Gly, NP_001374109.1:p.Asp318Gly, XP_047289482.1:p.Asp318Gly, NP_001374116.1:p.Asp318Gly, NP_001374115.1:p.Asp318Gly, NP_001374117.1:p.Asp318Gly, XP_047289490.1:p.Asp258Gly, NP_001374132.1:p.Thr263Ala, XP_047289494.1:p.Asp258Gly, XP_047289495.1:p.Asp258Gly, XP_047289486.1:p.Asp318Gly, XP_047289487.1:p.Asp318Gly, XP_047289488.1:p.Asp318Gly, NP_001374095.1:p.Asp318Gly, XP_047289492.1:p.Asp318Gly, XP_047289481.1:p.Asp318Gly, NP_001374097.1:p.Asp318Gly, XP_047289493.1:p.Asp318Gly, NP_001374096.1:p.Asp318Gly, NP_001374099.1:p.Asp318Gly, NP_001374102.1:p.Asp318Gly, NP_001374103.1:p.Asp318Gly, NP_001374105.1:p.Asp318Gly, NP_001374098.1:p.Asp318Gly, XP_047289500.1:p.Asp258Gly, XP_047289501.1:p.Asp258Gly, NP_001374104.1:p.Asp318Gly, NP_001374108.1:p.Asp318Gly, NP_001374114.1:p.Asp318Gly, XP_047289505.1:p.Asp258Gly, XP_047289485.1:p.Asp318Gly, NP_001374122.1:p.Asp318Gly, NP_001374112.1:p.Asp318Gly, NP_001374110.1:p.Asp318Gly, NP_001374111.1:p.Asp318Gly, NP_001374125.1:p.Asp318Gly, XP_047289484.1:p.Asp318Gly, NP_001374123.1:p.Asp318Gly, NP_001374124.1:p.Asp318Gly, XP_047289483.1:p.Asp318Gly, NP_001374113.1:p.Asp318Gly, NP_001374127.1:p.Asp318Gly, NP_001374118.1:p.Asp318Gly, NP_001374126.1:p.Asp318Gly, NP_001374121.1:p.Asp318Gly, NP_001374119.1:p.Asp318Gly, NP_001374120.1:p.Asp318Gly, NP_001374129.1:p.Asp318Gly, XP_047289489.1:p.Asp318Gly, XP_047289491.1:p.Asp318Gly, NP_001374128.1:p.Asp318Gly, NP_001374131.1:p.Asp318Gly, XP_047289496.1:p.Asp258Gly, XP_047289497.1:p.Asp258Gly, XP_047289498.1:p.Asp258Gly, XP_047289499.1:p.Asp258Gly, NP_001374133.1:p.Asp318Gly, NP_001374106.1:p.Asp318Gly, XP_047289502.1:p.Asp258Gly, XP_047289504.1:p.Asp258Gly

                                        20.

                                        rs1466066008 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          16:28836014 (GRCh38)
                                          16:28847335 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:28836013:C:G,NC_000016.10:28836013:C:T
                                          Gene:
                                          ATXN2L (Varview)
                                          Functional Consequence:
                                          intron_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000016.10:g.28836014C>G, NC_000016.10:g.28836014C>T, NC_000016.9:g.28847335C>G, NC_000016.9:g.28847335C>T, XM_006721012.5:c.2998C>G, XM_006721012.5:c.2998C>T, XM_006721012.4:c.2998C>G, XM_006721012.4:c.2998C>T, XM_006721012.3:c.2998C>G, XM_006721012.3:c.2998C>T, XM_006721012.2:c.2998C>G, XM_006721012.2:c.2998C>T, XM_006721012.1:c.2998C>G, XM_006721012.1:c.2998C>T, NM_007245.4:c.2977C>G, NM_007245.4:c.2977C>T, NM_007245.3:c.2977C>G, NM_007245.3:c.2977C>T, NM_017492.4:c.2977C>G, NM_017492.4:c.2977C>T, NM_017492.3:c.2977C>G, NM_017492.3:c.2977C>T, XM_011545719.3:c.2998C>G, XM_011545719.3:c.2998C>T, XM_011545719.2:c.2998C>G, XM_011545719.2:c.2998C>T, XM_011545719.1:c.2998C>G, XM_011545719.1:c.2998C>T, NM_148414.3:c.2977C>G, NM_148414.3:c.2977C>T, NM_148414.2:c.2977C>G, NM_148414.2:c.2977C>T, NM_145714.3:c.2977C>G, NM_145714.3:c.2977C>T, NM_145714.2:c.2977C>G, NM_145714.2:c.2977C>T, NM_148415.3:c.2977C>G, NM_148415.3:c.2977C>T, NM_148415.2:c.2977C>G, NM_148415.2:c.2977C>T, NM_148416.3:c.2977C>G, NM_148416.3:c.2977C>T, NM_148416.2:c.2977C>G, NM_148416.2:c.2977C>T, XM_006721011.2:c.2998C>G, XM_006721011.2:c.2998C>T, XM_006721011.1:c.2998C>G, XM_006721011.1:c.2998C>T, XM_005255062.2:c.2998C>G, XM_005255062.2:c.2998C>T, XM_005255062.1:c.2998C>G, XM_005255062.1:c.2998C>T, NM_001308230.2:c.2995C>G, NM_001308230.2:c.2995C>T, NM_001308230.1:c.2995C>G, NM_001308230.1:c.2995C>T, XM_005255074.2:c.2998C>G, XM_005255074.2:c.2998C>T, XM_005255074.1:c.2998C>G, XM_005255074.1:c.2998C>T, NM_001387171.1:c.2998C>G, NM_001387171.1:c.2998C>T, NM_001387172.1:c.2995C>G, NM_001387172.1:c.2995C>T, NM_001387178.1:c.2980C>G, NM_001387178.1:c.2980C>T, NM_001387180.1:c.2971C>G, NM_001387180.1:c.2971C>T, XM_047433526.1:c.2923C>G, XM_047433526.1:c.2923C>T, NM_001387187.1:c.2908C>G, NM_001387187.1:c.2908C>T, NM_001387186.1:c.2908C>G, NM_001387186.1:c.2908C>T, NM_001387188.1:c.2905C>G, NM_001387188.1:c.2905C>T, XM_047433534.1:c.2815C>G, XM_047433534.1:c.2815C>T, NM_001387203.1:c.2788C>G, NM_001387203.1:c.2788C>T, XM_047433538.1:c.2728C>G, XM_047433538.1:c.2728C>T, XM_047433539.1:c.2725C>G, XM_047433539.1:c.2725C>T, XM_047433530.1:c.2995C>G, XM_047433530.1:c.2995C>T, XM_047433531.1:c.2980C>G, XM_047433531.1:c.2980C>T, XM_047433532.1:c.2977C>G, XM_047433532.1:c.2977C>T, NM_001387166.1:c.2995C>G, NM_001387166.1:c.2995C>T, XM_047433536.1:c.2923C>G, XM_047433536.1:c.2923C>T, XM_047433525.1:c.2998C>G, XM_047433525.1:c.2998C>T, NM_001387168.1:c.2977C>G, NM_001387168.1:c.2977C>T, XM_047433537.1:c.2905C>G, XM_047433537.1:c.2905C>T, NM_001387167.1:c.2977C>G, NM_001387167.1:c.2977C>T, NM_001387170.1:c.2995C>G, NM_001387170.1:c.2995C>T, NM_001387173.1:c.2980C>G, NM_001387173.1:c.2980C>T, NM_001387174.1:c.2977C>G, NM_001387174.1:c.2977C>T, NM_001387176.1:c.2977C>G, NM_001387176.1:c.2977C>T, NM_001387169.1:c.2995C>G, NM_001387169.1:c.2995C>T, XM_047433544.1:c.2800C>G, XM_047433544.1:c.2800C>T, XM_047433545.1:c.2797C>G, XM_047433545.1:c.2797C>T, NM_001387175.1:c.2977C>G, NM_001387175.1:c.2977C>T, NM_001387179.1:c.2905C>G, NM_001387179.1:c.2905C>T, NM_001387185.1:c.2905C>G, NM_001387185.1:c.2905C>T, XM_047433549.1:c.2728C>G, XM_047433549.1:c.2728C>T, XM_047433529.1:c.2998C>G, XM_047433529.1:c.2998C>T, NM_001387193.1:c.2995C>G, NM_001387193.1:c.2995C>T, NM_001387183.1:c.2980C>G, NM_001387183.1:c.2980C>T, NM_001387181.1:c.2998C>G, NM_001387181.1:c.2998C>T, NM_001387182.1:c.2995C>G, NM_001387182.1:c.2995C>T, NM_001387196.1:c.2977C>G, NM_001387196.1:c.2977C>T, XM_047433528.1:c.2998C>G, XM_047433528.1:c.2998C>T, NM_001387194.1:c.2980C>G, NM_001387194.1:c.2980C>T, NM_001387195.1:c.2977C>G, NM_001387195.1:c.2977C>T, XM_047433527.1:c.2998C>G, XM_047433527.1:c.2998C>T, NM_001387184.1:c.2980C>G, NM_001387184.1:c.2980C>T, NM_001387198.1:c.2977C>G, NM_001387198.1:c.2977C>T, NM_001387189.1:c.2995C>G, NM_001387189.1:c.2995C>T, NM_001387197.1:c.2923C>G, NM_001387197.1:c.2923C>T, NM_001387192.1:c.2980C>G, NM_001387192.1:c.2980C>T, NM_001387190.1:c.2995C>G, NM_001387190.1:c.2995C>T, NM_001387191.1:c.2980C>G, NM_001387191.1:c.2980C>T, NM_001387200.1:c.2923C>G, NM_001387200.1:c.2923C>T, XM_047433533.1:c.2923C>G, XM_047433533.1:c.2923C>T, XM_047433535.1:c.2908C>G, XM_047433535.1:c.2908C>T, NM_001387199.1:c.2908C>G, NM_001387199.1:c.2908C>T, NM_001387202.1:c.2905C>G, NM_001387202.1:c.2905C>T, XM_047433540.1:c.2818C>G, XM_047433540.1:c.2818C>T, XM_047433541.1:c.2815C>G, XM_047433541.1:c.2815C>T, XM_047433542.1:c.2800C>G, XM_047433542.1:c.2800C>T, XM_047433543.1:c.2797C>G, XM_047433543.1:c.2797C>T, NM_001387177.1:c.2977C>G, NM_001387177.1:c.2977C>T, XM_047433546.1:c.2728C>G, XM_047433546.1:c.2728C>T, XM_047433548.1:c.2725C>G, XM_047433548.1:c.2725C>T, XP_006721075.1:p.Pro1000Ala, XP_006721075.1:p.Pro1000Ser, NP_009176.2:p.Pro993Ala, NP_009176.2:p.Pro993Ser, NP_059867.3:p.Pro993Ala, NP_059867.3:p.Pro993Ser, XP_011544021.1:p.Pro1000Ala, XP_011544021.1:p.Pro1000Ser, NP_680780.1:p.Pro993Ala, NP_680780.1:p.Pro993Ser, NP_663760.1:p.Pro993Ala, NP_663760.1:p.Pro993Ser, NP_680781.1:p.Pro993Ala, NP_680781.1:p.Pro993Ser, NP_680782.1:p.Pro993Ala, NP_680782.1:p.Pro993Ser, XP_006721074.1:p.Pro1000Ala, XP_006721074.1:p.Pro1000Ser, XP_005255119.1:p.Pro1000Ala, XP_005255119.1:p.Pro1000Ser, NP_001295159.1:p.Pro999Ala, NP_001295159.1:p.Pro999Ser, XP_005255131.1:p.Pro1000Ala, XP_005255131.1:p.Pro1000Ser, NP_001374100.1:p.Pro1000Ala, NP_001374100.1:p.Pro1000Ser, NP_001374101.1:p.Pro999Ala, NP_001374101.1:p.Pro999Ser, NP_001374107.1:p.Pro994Ala, NP_001374107.1:p.Pro994Ser, NP_001374109.1:p.Pro991Ala, NP_001374109.1:p.Pro991Ser, XP_047289482.1:p.Pro975Ala, XP_047289482.1:p.Pro975Ser, NP_001374116.1:p.Pro970Ala, NP_001374116.1:p.Pro970Ser, NP_001374115.1:p.Pro970Ala, NP_001374115.1:p.Pro970Ser, NP_001374117.1:p.Pro969Ala, NP_001374117.1:p.Pro969Ser, XP_047289490.1:p.Pro939Ala, XP_047289490.1:p.Pro939Ser, NP_001374132.1:p.Pro930Ala, NP_001374132.1:p.Pro930Ser, XP_047289494.1:p.Pro910Ala, XP_047289494.1:p.Pro910Ser, XP_047289495.1:p.Pro909Ala, XP_047289495.1:p.Pro909Ser, XP_047289486.1:p.Pro999Ala, XP_047289486.1:p.Pro999Ser, XP_047289487.1:p.Pro994Ala, XP_047289487.1:p.Pro994Ser, XP_047289488.1:p.Pro993Ala, XP_047289488.1:p.Pro993Ser, NP_001374095.1:p.Pro999Ala, NP_001374095.1:p.Pro999Ser, XP_047289492.1:p.Pro975Ala, XP_047289492.1:p.Pro975Ser, XP_047289481.1:p.Pro1000Ala, XP_047289481.1:p.Pro1000Ser, NP_001374097.1:p.Pro993Ala, NP_001374097.1:p.Pro993Ser, XP_047289493.1:p.Pro969Ala, XP_047289493.1:p.Pro969Ser, NP_001374096.1:p.Pro993Ala, NP_001374096.1:p.Pro993Ser, NP_001374099.1:p.Pro999Ala, NP_001374099.1:p.Pro999Ser, NP_001374102.1:p.Pro994Ala, NP_001374102.1:p.Pro994Ser, NP_001374103.1:p.Pro993Ala, NP_001374103.1:p.Pro993Ser, NP_001374105.1:p.Pro993Ala, NP_001374105.1:p.Pro993Ser, NP_001374098.1:p.Pro999Ala, NP_001374098.1:p.Pro999Ser, XP_047289500.1:p.Pro934Ala, XP_047289500.1:p.Pro934Ser, XP_047289501.1:p.Pro933Ala, XP_047289501.1:p.Pro933Ser, NP_001374104.1:p.Pro993Ala, NP_001374104.1:p.Pro993Ser, NP_001374108.1:p.Pro969Ala, NP_001374108.1:p.Pro969Ser, NP_001374114.1:p.Pro969Ala, NP_001374114.1:p.Pro969Ser, XP_047289505.1:p.Pro910Ala, XP_047289505.1:p.Pro910Ser, XP_047289485.1:p.Pro1000Ala, XP_047289485.1:p.Pro1000Ser, NP_001374122.1:p.Pro999Ala, NP_001374122.1:p.Pro999Ser, NP_001374112.1:p.Pro994Ala, NP_001374112.1:p.Pro994Ser, NP_001374110.1:p.Pro1000Ala, NP_001374110.1:p.Pro1000Ser, NP_001374111.1:p.Pro999Ala, NP_001374111.1:p.Pro999Ser, NP_001374125.1:p.Pro993Ala, NP_001374125.1:p.Pro993Ser, XP_047289484.1:p.Pro1000Ala, XP_047289484.1:p.Pro1000Ser, NP_001374123.1:p.Pro994Ala, NP_001374123.1:p.Pro994Ser, NP_001374124.1:p.Pro993Ala, NP_001374124.1:p.Pro993Ser, XP_047289483.1:p.Pro1000Ala, XP_047289483.1:p.Pro1000Ser, NP_001374113.1:p.Pro994Ala, NP_001374113.1:p.Pro994Ser, NP_001374127.1:p.Pro993Ala, NP_001374127.1:p.Pro993Ser, NP_001374118.1:p.Pro999Ala, NP_001374118.1:p.Pro999Ser, NP_001374126.1:p.Pro975Ala, NP_001374126.1:p.Pro975Ser, NP_001374121.1:p.Pro994Ala, NP_001374121.1:p.Pro994Ser, NP_001374119.1:p.Pro999Ala, NP_001374119.1:p.Pro999Ser, NP_001374120.1:p.Pro994Ala, NP_001374120.1:p.Pro994Ser, NP_001374129.1:p.Pro975Ala, NP_001374129.1:p.Pro975Ser, XP_047289489.1:p.Pro975Ala, XP_047289489.1:p.Pro975Ser, XP_047289491.1:p.Pro970Ala, XP_047289491.1:p.Pro970Ser, NP_001374128.1:p.Pro970Ala, NP_001374128.1:p.Pro970Ser, NP_001374131.1:p.Pro969Ala, NP_001374131.1:p.Pro969Ser, XP_047289496.1:p.Pro940Ala, XP_047289496.1:p.Pro940Ser, XP_047289497.1:p.Pro939Ala, XP_047289497.1:p.Pro939Ser, XP_047289498.1:p.Pro934Ala, XP_047289498.1:p.Pro934Ser, XP_047289499.1:p.Pro933Ala, XP_047289499.1:p.Pro933Ser, NP_001374106.1:p.Pro993Ala, NP_001374106.1:p.Pro993Ser, XP_047289502.1:p.Pro910Ala, XP_047289502.1:p.Pro910Ser, XP_047289504.1:p.Pro909Ala, XP_047289504.1:p.Pro909Ser

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