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Items: 1 to 20 of 1591

1.

rs1490169454 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    21:46545173 (GRCh38)
    21:47965086 (GRCh37)
    Canonical SPDI:
    NC_000021.9:46545172:A:G
    Gene:
    DIP2A (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    HGVS:
    NC_000021.9:g.46545173A>G, NC_000021.8:g.47965086A>G, NG_015996.1:g.91225A>G, NM_015151.4:c.2213A>G, NM_015151.3:c.2213A>G, NM_206889.3:c.2213A>G, NM_206889.2:c.2213A>G, NM_206891.3:c.2213A>G, NM_206891.2:c.2213A>G, NM_206890.3:c.2213A>G, NM_206890.2:c.2213A>G, NM_001353942.2:c.2216A>G, NM_001353942.1:c.2216A>G, NM_001146116.2:c.2201A>G, NM_001146116.1:c.2201A>G, NM_001353943.2:c.2213A>G, NM_001353943.1:c.2213A>G, NM_001146115.2:c.2084A>G, NM_001146115.1:c.2084A>G, NM_001353944.2:c.1964A>G, NM_001353944.1:c.1964A>G, XM_017028302.3:c.1961A>G, XM_017028302.2:c.1961A>G, XM_017028302.1:c.1961A>G, XM_017028293.2:c.2318A>G, XM_017028293.1:c.2318A>G, XM_011529501.2:c.2321A>G, XM_011529501.1:c.2321A>G, XM_011529502.2:c.2321A>G, XM_011529502.1:c.2321A>G, XR_007067786.1:n.2325A>G, XR_007067785.1:n.2562A>G, XR_007067784.1:n.2562A>G, NM_001410751.1:c.2213A>G, XM_047440707.1:c.2318A>G, XM_047440708.1:c.2216A>G, XM_047440709.1:c.2213A>G, XM_047440710.1:c.2189A>G, XM_047440711.1:c.2189A>G, XM_047440716.1:c.2321A>G, XM_047440712.1:c.2084A>G, XM_047440713.1:c.2084A>G, XM_047440715.1:c.1961A>G, XM_047440714.1:c.2321A>G, XM_047440717.1:c.2318A>G, XM_047440718.1:c.2216A>G, XM_047440719.1:c.2213A>G, XM_047440720.1:c.2084A>G, NM_001146114.1:c.2021A>G, NP_055966.2:p.Tyr738Cys, NP_996772.1:p.Tyr738Cys, NP_996774.1:p.Tyr738Cys, NP_996773.1:p.Tyr738Cys, NP_001340871.1:p.Tyr739Cys, NP_001139588.1:p.Tyr734Cys, NP_001340872.1:p.Tyr738Cys, NP_001139587.1:p.Tyr695Cys, NP_001340873.1:p.Tyr655Cys, XP_016883791.1:p.Tyr654Cys, XP_016883782.1:p.Tyr773Cys, XP_011527803.1:p.Tyr774Cys, XP_011527804.1:p.Tyr774Cys, XP_047296663.1:p.Tyr773Cys, XP_047296664.1:p.Tyr739Cys, XP_047296665.1:p.Tyr738Cys, XP_047296666.1:p.Tyr730Cys, XP_047296667.1:p.Tyr730Cys, XP_047296672.1:p.Tyr774Cys, XP_047296668.1:p.Tyr695Cys, XP_047296669.1:p.Tyr695Cys, XP_047296671.1:p.Tyr654Cys, XP_047296670.1:p.Tyr774Cys, XP_047296673.1:p.Tyr773Cys, XP_047296674.1:p.Tyr739Cys, XP_047296675.1:p.Tyr738Cys, XP_047296676.1:p.Tyr695Cys

    2.

    rs1489806243 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      21:46537248 (GRCh38)
      21:47957161 (GRCh37)
      Canonical SPDI:
      NC_000021.9:46537247:A:G
      Gene:
      DIP2A (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,non_coding_transcript_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000021.9:g.46537248A>G, NC_000021.8:g.47957161A>G, NG_015996.1:g.83300A>G, NM_015151.4:c.1667A>G, NM_015151.3:c.1667A>G, NM_206889.3:c.1667A>G, NM_206889.2:c.1667A>G, NM_206891.3:c.1667A>G, NM_206891.2:c.1667A>G, NM_206890.3:c.1667A>G, NM_206890.2:c.1667A>G, NM_001353942.2:c.1670A>G, NM_001353942.1:c.1670A>G, NM_001146116.2:c.1655A>G, NM_001146116.1:c.1655A>G, NM_001353943.2:c.1667A>G, NM_001353943.1:c.1667A>G, NM_001146115.2:c.1538A>G, NM_001146115.1:c.1538A>G, NM_001353944.2:c.1418A>G, NM_001353944.1:c.1418A>G, XM_017028302.3:c.1415A>G, XM_017028302.2:c.1415A>G, XM_017028302.1:c.1415A>G, XM_017028293.2:c.1772A>G, XM_017028293.1:c.1772A>G, XM_011529501.2:c.1775A>G, XM_011529501.1:c.1775A>G, XM_011529502.2:c.1775A>G, XM_011529502.1:c.1775A>G, XR_007067786.1:n.1779A>G, XR_007067785.1:n.2016A>G, XR_007067784.1:n.2016A>G, NM_001410751.1:c.1667A>G, XM_047440707.1:c.1772A>G, XM_047440708.1:c.1670A>G, XM_047440709.1:c.1667A>G, XM_047440710.1:c.1643A>G, XM_047440711.1:c.1643A>G, XM_047440716.1:c.1775A>G, XM_047440712.1:c.1538A>G, XM_047440713.1:c.1538A>G, XM_047440715.1:c.1415A>G, XM_047440714.1:c.1775A>G, XM_047440717.1:c.1772A>G, XM_047440718.1:c.1670A>G, XM_047440719.1:c.1667A>G, XM_047440720.1:c.1538A>G, NM_001146114.1:c.1475A>G, NP_055966.2:p.Asp556Gly, NP_996772.1:p.Asp556Gly, NP_996774.1:p.Asp556Gly, NP_996773.1:p.Asp556Gly, NP_001340871.1:p.Asp557Gly, NP_001139588.1:p.Asp552Gly, NP_001340872.1:p.Asp556Gly, NP_001139587.1:p.Asp513Gly, NP_001340873.1:p.Asp473Gly, XP_016883791.1:p.Asp472Gly, XP_016883782.1:p.Asp591Gly, XP_011527803.1:p.Asp592Gly, XP_011527804.1:p.Asp592Gly, XP_047296663.1:p.Asp591Gly, XP_047296664.1:p.Asp557Gly, XP_047296665.1:p.Asp556Gly, XP_047296666.1:p.Asp548Gly, XP_047296667.1:p.Asp548Gly, XP_047296672.1:p.Asp592Gly, XP_047296668.1:p.Asp513Gly, XP_047296669.1:p.Asp513Gly, XP_047296671.1:p.Asp472Gly, XP_047296670.1:p.Asp592Gly, XP_047296673.1:p.Asp591Gly, XP_047296674.1:p.Asp557Gly, XP_047296675.1:p.Asp556Gly, XP_047296676.1:p.Asp513Gly

      3.

      rs1488892329 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        21:46541775 (GRCh38)
        21:47961688 (GRCh37)
        Canonical SPDI:
        NC_000021.9:46541774:C:A
        Gene:
        DIP2A (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000021.9:g.46541775C>A, NC_000021.8:g.47961688C>A, NG_015996.1:g.87827C>A, NM_015151.4:c.2056C>A, NM_015151.3:c.2056C>A, NM_206889.3:c.2056C>A, NM_206889.2:c.2056C>A, NM_206891.3:c.2056C>A, NM_206891.2:c.2056C>A, NM_206890.3:c.2056C>A, NM_206890.2:c.2056C>A, NM_001353942.2:c.2059C>A, NM_001353942.1:c.2059C>A, NM_001146116.2:c.2044C>A, NM_001146116.1:c.2044C>A, NM_001353943.2:c.2056C>A, NM_001353943.1:c.2056C>A, NM_001146115.2:c.1927C>A, NM_001146115.1:c.1927C>A, NM_001353944.2:c.1807C>A, NM_001353944.1:c.1807C>A, XM_017028302.3:c.1804C>A, XM_017028302.2:c.1804C>A, XM_017028302.1:c.1804C>A, XM_017028293.2:c.2161C>A, XM_017028293.1:c.2161C>A, XM_011529501.2:c.2164C>A, XM_011529501.1:c.2164C>A, XM_011529502.2:c.2164C>A, XM_011529502.1:c.2164C>A, XR_007067786.1:n.2168C>A, XR_007067785.1:n.2405C>A, XR_007067784.1:n.2405C>A, NM_001410751.1:c.2056C>A, XM_047440707.1:c.2161C>A, XM_047440708.1:c.2059C>A, XM_047440709.1:c.2056C>A, XM_047440710.1:c.2032C>A, XM_047440711.1:c.2032C>A, XM_047440716.1:c.2164C>A, XM_047440712.1:c.1927C>A, XM_047440713.1:c.1927C>A, XM_047440715.1:c.1804C>A, XM_047440714.1:c.2164C>A, XM_047440717.1:c.2161C>A, XM_047440718.1:c.2059C>A, XM_047440719.1:c.2056C>A, XM_047440720.1:c.1927C>A, NM_001146114.1:c.1864C>A, NP_055966.2:p.Pro686Thr, NP_996772.1:p.Pro686Thr, NP_996774.1:p.Pro686Thr, NP_996773.1:p.Pro686Thr, NP_001340871.1:p.Pro687Thr, NP_001139588.1:p.Pro682Thr, NP_001340872.1:p.Pro686Thr, NP_001139587.1:p.Pro643Thr, NP_001340873.1:p.Pro603Thr, XP_016883791.1:p.Pro602Thr, XP_016883782.1:p.Pro721Thr, XP_011527803.1:p.Pro722Thr, XP_011527804.1:p.Pro722Thr, XP_047296663.1:p.Pro721Thr, XP_047296664.1:p.Pro687Thr, XP_047296665.1:p.Pro686Thr, XP_047296666.1:p.Pro678Thr, XP_047296667.1:p.Pro678Thr, XP_047296672.1:p.Pro722Thr, XP_047296668.1:p.Pro643Thr, XP_047296669.1:p.Pro643Thr, XP_047296671.1:p.Pro602Thr, XP_047296670.1:p.Pro722Thr, XP_047296673.1:p.Pro721Thr, XP_047296674.1:p.Pro687Thr, XP_047296675.1:p.Pro686Thr, XP_047296676.1:p.Pro643Thr

        4.

        rs1488886957 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->TAT [Show Flanks]
          Chromosome:
          21:46541823 (GRCh38)
          21:47961737 (GRCh37)
          Canonical SPDI:
          NC_000021.9:46541823:TTAT:TTATTAT
          Gene:
          DIP2A (Varview)
          Functional Consequence:
          inframe_insertion,coding_sequence_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTATTAT=0.000071/1 (ALFA)
          TTA=0.000007/1 (GnomAD)
          HGVS:
          NC_000021.9:g.46541825_46541827dup, NC_000021.8:g.47961738_47961740dup, NG_015996.1:g.87877_87879dup, NM_015151.4:c.2106_2108dup, NM_015151.3:c.2106_2108dup, NM_206889.3:c.2106_2108dup, NM_206889.2:c.2106_2108dup, NM_206891.3:c.2106_2108dup, NM_206891.2:c.2106_2108dup, NM_206890.3:c.2106_2108dup, NM_206890.2:c.2106_2108dup, NM_001353942.2:c.2109_2111dup, NM_001353942.1:c.2109_2111dup, NM_001146116.2:c.2094_2096dup, NM_001146116.1:c.2094_2096dup, NM_001353943.2:c.2106_2108dup, NM_001353943.1:c.2106_2108dup, NM_001146115.2:c.1977_1979dup, NM_001146115.1:c.1977_1979dup, NM_001353944.2:c.1857_1859dup, NM_001353944.1:c.1857_1859dup, XM_017028302.3:c.1854_1856dup, XM_017028302.2:c.1854_1856dup, XM_017028302.1:c.1854_1856dup, XM_017028293.2:c.2211_2213dup, XM_017028293.1:c.2211_2213dup, XM_011529501.2:c.2214_2216dup, XM_011529501.1:c.2214_2216dup, XM_011529502.2:c.2214_2216dup, XM_011529502.1:c.2214_2216dup, XR_007067786.1:n.2218_2220dup, XR_007067785.1:n.2455_2457dup, XR_007067784.1:n.2455_2457dup, NM_001410751.1:c.2106_2108dup, XM_047440707.1:c.2211_2213dup, XM_047440708.1:c.2109_2111dup, XM_047440709.1:c.2106_2108dup, XM_047440710.1:c.2082_2084dup, XM_047440711.1:c.2082_2084dup, XM_047440716.1:c.2214_2216dup, XM_047440712.1:c.1977_1979dup, XM_047440713.1:c.1977_1979dup, XM_047440715.1:c.1854_1856dup, XM_047440714.1:c.2214_2216dup, XM_047440717.1:c.2211_2213dup, XM_047440718.1:c.2109_2111dup, XM_047440719.1:c.2106_2108dup, XM_047440720.1:c.1977_1979dup, NM_001146114.1:c.1914_1916dup, NP_055966.2:p.Ile703dup, NP_996772.1:p.Ile703dup, NP_996774.1:p.Ile703dup, NP_996773.1:p.Ile703dup, NP_001340871.1:p.Ile704dup, NP_001139588.1:p.Ile699dup, NP_001340872.1:p.Ile703dup, NP_001139587.1:p.Ile660dup, NP_001340873.1:p.Ile620dup, XP_016883791.1:p.Ile619dup, XP_016883782.1:p.Ile738dup, XP_011527803.1:p.Ile739dup, XP_011527804.1:p.Ile739dup, XP_047296663.1:p.Ile738dup, XP_047296664.1:p.Ile704dup, XP_047296665.1:p.Ile703dup, XP_047296666.1:p.Ile695dup, XP_047296667.1:p.Ile695dup, XP_047296672.1:p.Ile739dup, XP_047296668.1:p.Ile660dup, XP_047296669.1:p.Ile660dup, XP_047296671.1:p.Ile619dup, XP_047296670.1:p.Ile739dup, XP_047296673.1:p.Ile738dup, XP_047296674.1:p.Ile704dup, XP_047296675.1:p.Ile703dup, XP_047296676.1:p.Ile660dup

          5.

          rs1488777381 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            21:46557726 (GRCh38)
            21:47977639 (GRCh37)
            Canonical SPDI:
            NC_000021.9:46557725:C:A
            Gene:
            DIP2A (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
            HGVS:

            6.

            rs1487989099 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              21:46511465 (GRCh38)
              21:47931378 (GRCh37)
              Canonical SPDI:
              NC_000021.9:46511464:G:A
              Gene:
              DIP2A (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency,by cluster
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              A=0.000071/1 (TOMMO)
              HGVS:
              NC_000021.9:g.46511465G>A, NC_000021.8:g.47931378G>A, NG_015996.1:g.57517G>A, NM_015151.4:c.953G>A, NM_015151.3:c.953G>A, NM_206889.3:c.953G>A, NM_206889.2:c.953G>A, NM_206891.3:c.953G>A, NM_206891.2:c.953G>A, NM_206890.3:c.953G>A, NM_206890.2:c.953G>A, NM_001353942.2:c.956G>A, NM_001353942.1:c.956G>A, NM_001146116.2:c.941G>A, NM_001146116.1:c.941G>A, NM_001353943.2:c.953G>A, NM_001353943.1:c.953G>A, NM_001146115.2:c.824G>A, NM_001146115.1:c.824G>A, NM_001353944.2:c.704G>A, NM_001353944.1:c.704G>A, XM_017028302.3:c.701G>A, XM_017028302.2:c.701G>A, XM_017028302.1:c.701G>A, XM_017028293.2:c.1058G>A, XM_017028293.1:c.1058G>A, XM_011529501.2:c.1061G>A, XM_011529501.1:c.1061G>A, XM_011529502.2:c.1061G>A, XM_011529502.1:c.1061G>A, XR_007067786.1:n.1065G>A, XR_007067785.1:n.1302G>A, XR_007067784.1:n.1302G>A, NM_001410751.1:c.953G>A, XM_047440707.1:c.1058G>A, XM_047440708.1:c.956G>A, XM_047440709.1:c.953G>A, XM_047440710.1:c.929G>A, XM_047440711.1:c.929G>A, XM_047440716.1:c.1061G>A, XM_047440712.1:c.824G>A, XM_047440713.1:c.824G>A, XM_047440715.1:c.701G>A, XM_047440714.1:c.1061G>A, XM_047440717.1:c.1058G>A, XM_047440718.1:c.956G>A, XM_047440719.1:c.953G>A, XM_047440720.1:c.824G>A, NM_001146114.1:c.761G>A, NP_055966.2:p.Ser318Asn, NP_996772.1:p.Ser318Asn, NP_996774.1:p.Ser318Asn, NP_996773.1:p.Ser318Asn, NP_001340871.1:p.Ser319Asn, NP_001139588.1:p.Ser314Asn, NP_001340872.1:p.Ser318Asn, NP_001139587.1:p.Ser275Asn, NP_001340873.1:p.Ser235Asn, XP_016883791.1:p.Ser234Asn, XP_016883782.1:p.Ser353Asn, XP_011527803.1:p.Ser354Asn, XP_011527804.1:p.Ser354Asn, XP_047296663.1:p.Ser353Asn, XP_047296664.1:p.Ser319Asn, XP_047296665.1:p.Ser318Asn, XP_047296666.1:p.Ser310Asn, XP_047296667.1:p.Ser310Asn, XP_047296672.1:p.Ser354Asn, XP_047296668.1:p.Ser275Asn, XP_047296669.1:p.Ser275Asn, XP_047296671.1:p.Ser234Asn, XP_047296670.1:p.Ser354Asn, XP_047296673.1:p.Ser353Asn, XP_047296674.1:p.Ser319Asn, XP_047296675.1:p.Ser318Asn, XP_047296676.1:p.Ser275Asn

              7.

              rs1486823758 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                21:46556049 (GRCh38)
                21:47975962 (GRCh37)
                Canonical SPDI:
                NC_000021.9:46556048:G:A
                Gene:
                DIP2A (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000021.9:g.46556049G>A, NC_000021.8:g.47975962G>A, NG_015996.1:g.102101G>A, NM_015151.4:c.3456G>A, NM_015151.3:c.3456G>A, NM_001353942.2:c.3459G>A, NM_001353942.1:c.3459G>A, NM_001146116.2:c.3444G>A, NM_001146116.1:c.3444G>A, NM_001353943.2:c.3456G>A, NM_001353943.1:c.3456G>A, XM_017028302.3:c.3204G>A, XM_017028302.2:c.3204G>A, XM_017028302.1:c.3204G>A, XM_017028293.2:c.3561G>A, XM_017028293.1:c.3561G>A, XM_011529501.2:c.3564G>A, XM_011529501.1:c.3564G>A, XR_007067786.1:n.3568G>A, XR_007067785.1:n.3805G>A, XR_007067784.1:n.3805G>A, NM_001410751.1:c.3456G>A, XM_047440707.1:c.3561G>A, XM_047440708.1:c.3459G>A, XM_047440709.1:c.3456G>A, XM_047440710.1:c.3432G>A, XM_047440711.1:c.3432G>A, XM_047440716.1:c.3564G>A, XM_047440712.1:c.3327G>A, XM_047440713.1:c.3327G>A, XM_047440715.1:c.3204G>A, XM_047440714.1:c.3564G>A, XM_047440717.1:c.3561G>A, XM_047440718.1:c.3459G>A, XM_047440719.1:c.3456G>A, XM_047440720.1:c.3327G>A, NM_001146114.1:c.3264G>A

                8.

                rs1486071628 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  21:46554834 (GRCh38)
                  21:47974747 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:46554833:G:A
                  Gene:
                  DIP2A (Varview)
                  Functional Consequence:
                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.00002/3 (GnomAD_exomes)
                  HGVS:
                  NC_000021.9:g.46554834G>A, NC_000021.8:g.47974747G>A, NG_015996.1:g.100886G>A, NM_015151.4:c.3289G>A, NM_015151.3:c.3289G>A, NM_001353942.2:c.3292G>A, NM_001353942.1:c.3292G>A, NM_001146116.2:c.3277G>A, NM_001146116.1:c.3277G>A, NM_001353943.2:c.3289G>A, NM_001353943.1:c.3289G>A, XM_017028302.3:c.3037G>A, XM_017028302.2:c.3037G>A, XM_017028302.1:c.3037G>A, XM_017028293.2:c.3394G>A, XM_017028293.1:c.3394G>A, XM_011529501.2:c.3397G>A, XM_011529501.1:c.3397G>A, XR_007067786.1:n.3401G>A, XR_007067785.1:n.3638G>A, XR_007067784.1:n.3638G>A, NM_001410751.1:c.3289G>A, XM_047440707.1:c.3394G>A, XM_047440708.1:c.3292G>A, XM_047440709.1:c.3289G>A, XM_047440710.1:c.3265G>A, XM_047440711.1:c.3265G>A, XM_047440716.1:c.3397G>A, XM_047440712.1:c.3160G>A, XM_047440713.1:c.3160G>A, XM_047440715.1:c.3037G>A, XM_047440714.1:c.3397G>A, XM_047440717.1:c.3394G>A, XM_047440718.1:c.3292G>A, XM_047440719.1:c.3289G>A, XM_047440720.1:c.3160G>A, NM_001146114.1:c.3097G>A, NP_055966.2:p.Ala1097Thr, NP_001340871.1:p.Ala1098Thr, NP_001139588.1:p.Ala1093Thr, NP_001340872.1:p.Ala1097Thr, XP_016883791.1:p.Ala1013Thr, XP_016883782.1:p.Ala1132Thr, XP_011527803.1:p.Ala1133Thr, XP_047296663.1:p.Ala1132Thr, XP_047296664.1:p.Ala1098Thr, XP_047296665.1:p.Ala1097Thr, XP_047296666.1:p.Ala1089Thr, XP_047296667.1:p.Ala1089Thr, XP_047296672.1:p.Ala1133Thr, XP_047296668.1:p.Ala1054Thr, XP_047296669.1:p.Ala1054Thr, XP_047296671.1:p.Ala1013Thr, XP_047296670.1:p.Ala1133Thr, XP_047296673.1:p.Ala1132Thr, XP_047296674.1:p.Ala1098Thr, XP_047296675.1:p.Ala1097Thr, XP_047296676.1:p.Ala1054Thr

                  9.

                  rs1485158424 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    21:46545261 (GRCh38)
                    21:47965174 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:46545260:G:A
                    Gene:
                    DIP2A (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000021.9:g.46545261G>A, NC_000021.8:g.47965174G>A, NG_015996.1:g.91313G>A, NM_015151.4:c.2301G>A, NM_015151.3:c.2301G>A, NM_206889.3:c.2301G>A, NM_206889.2:c.2301G>A, NM_206891.3:c.2301G>A, NM_206891.2:c.2301G>A, NM_206890.3:c.2301G>A, NM_206890.2:c.2301G>A, NM_001353942.2:c.2304G>A, NM_001353942.1:c.2304G>A, NM_001146116.2:c.2289G>A, NM_001146116.1:c.2289G>A, NM_001353943.2:c.2301G>A, NM_001353943.1:c.2301G>A, NM_001146115.2:c.2172G>A, NM_001146115.1:c.2172G>A, NM_001353944.2:c.2052G>A, NM_001353944.1:c.2052G>A, XM_017028302.3:c.2049G>A, XM_017028302.2:c.2049G>A, XM_017028302.1:c.2049G>A, XM_017028293.2:c.2406G>A, XM_017028293.1:c.2406G>A, XM_011529501.2:c.2409G>A, XM_011529501.1:c.2409G>A, XM_011529502.2:c.2409G>A, XM_011529502.1:c.2409G>A, XR_007067786.1:n.2413G>A, XR_007067785.1:n.2650G>A, XR_007067784.1:n.2650G>A, NM_001410751.1:c.2301G>A, XM_047440707.1:c.2406G>A, XM_047440708.1:c.2304G>A, XM_047440709.1:c.2301G>A, XM_047440710.1:c.2277G>A, XM_047440711.1:c.2277G>A, XM_047440716.1:c.2409G>A, XM_047440712.1:c.2172G>A, XM_047440713.1:c.2172G>A, XM_047440715.1:c.2049G>A, XM_047440714.1:c.2409G>A, XM_047440717.1:c.2406G>A, XM_047440718.1:c.2304G>A, XM_047440719.1:c.2301G>A, XM_047440720.1:c.2172G>A, NM_001146114.1:c.2109G>A

                    10.

                    rs1484896141 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      21:46459198 (GRCh38)
                      21:47879111 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:46459197:G:T
                      Gene:
                      DIP2A (Varview), LOC124905046 (Varview)
                      Functional Consequence:
                      stop_gained,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000008/1 (GnomAD_exomes)
                      HGVS:
                      NC_000021.9:g.46459198G>T, NC_000021.8:g.47879111G>T, NG_015996.1:g.5250G>T, NM_015151.4:c.67G>T, NM_015151.3:c.67G>T, NM_206889.3:c.67G>T, NM_206889.2:c.67G>T, NM_206891.3:c.67G>T, NM_206891.2:c.67G>T, NM_206890.3:c.67G>T, NM_206890.2:c.67G>T, NM_001353942.2:c.67G>T, NM_001353942.1:c.67G>T, NM_001146116.2:c.67G>T, NM_001146116.1:c.67G>T, NM_001353943.2:c.67G>T, NM_001353943.1:c.67G>T, NM_001146115.2:c.67G>T, NM_001146115.1:c.67G>T, NM_001353944.2:c.67G>T, NM_001353944.1:c.67G>T, XM_017028302.3:c.67G>T, XM_017028302.2:c.67G>T, XM_017028302.1:c.67G>T, XM_017028293.2:c.67G>T, XM_017028293.1:c.67G>T, XM_011529501.2:c.67G>T, XM_011529501.1:c.67G>T, XM_011529502.2:c.67G>T, XM_011529502.1:c.67G>T, XR_007067786.1:n.308G>T, XR_007067785.1:n.308G>T, XR_007067784.1:n.308G>T, NM_001410751.1:c.67G>T, XM_047440707.1:c.67G>T, XM_047440708.1:c.67G>T, XM_047440709.1:c.67G>T, XM_047440710.1:c.67G>T, XM_047440711.1:c.67G>T, XM_047440716.1:c.67G>T, XM_047440712.1:c.67G>T, XM_047440713.1:c.67G>T, XM_047440715.1:c.67G>T, XM_047440714.1:c.67G>T, XM_047440717.1:c.67G>T, XM_047440718.1:c.67G>T, XM_047440719.1:c.67G>T, XM_047440720.1:c.67G>T, NM_001146114.1:c.67G>T, NP_055966.2:p.Glu23Ter, NP_996772.1:p.Glu23Ter, NP_996774.1:p.Glu23Ter, NP_996773.1:p.Glu23Ter, NP_001340871.1:p.Glu23Ter, NP_001139588.1:p.Glu23Ter, NP_001340872.1:p.Glu23Ter, NP_001139587.1:p.Glu23Ter, NP_001340873.1:p.Glu23Ter, XP_016883791.1:p.Glu23Ter, XP_016883782.1:p.Glu23Ter, XP_011527803.1:p.Glu23Ter, XP_011527804.1:p.Glu23Ter, XP_047296663.1:p.Glu23Ter, XP_047296664.1:p.Glu23Ter, XP_047296665.1:p.Glu23Ter, XP_047296666.1:p.Glu23Ter, XP_047296667.1:p.Glu23Ter, XP_047296672.1:p.Glu23Ter, XP_047296668.1:p.Glu23Ter, XP_047296669.1:p.Glu23Ter, XP_047296671.1:p.Glu23Ter, XP_047296670.1:p.Glu23Ter, XP_047296673.1:p.Glu23Ter, XP_047296674.1:p.Glu23Ter, XP_047296675.1:p.Glu23Ter, XP_047296676.1:p.Glu23Ter

                      11.

                      rs1484289044 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        21:46538544 (GRCh38)
                        21:47958457 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:46538543:G:T
                        Gene:
                        DIP2A (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,non_coding_transcript_variant
                        HGVS:
                        NC_000021.9:g.46538544G>T, NC_000021.8:g.47958457G>T, NG_015996.1:g.84596G>T, NM_015151.4:c.1863G>T, NM_015151.3:c.1863G>T, NM_206889.3:c.1863G>T, NM_206889.2:c.1863G>T, NM_206891.3:c.1863G>T, NM_206891.2:c.1863G>T, NM_206890.3:c.1863G>T, NM_206890.2:c.1863G>T, NM_001353942.2:c.1866G>T, NM_001353942.1:c.1866G>T, NM_001146116.2:c.1851G>T, NM_001146116.1:c.1851G>T, NM_001353943.2:c.1863G>T, NM_001353943.1:c.1863G>T, NM_001146115.2:c.1734G>T, NM_001146115.1:c.1734G>T, NM_001353944.2:c.1614G>T, NM_001353944.1:c.1614G>T, XM_017028302.3:c.1611G>T, XM_017028302.2:c.1611G>T, XM_017028302.1:c.1611G>T, XM_017028293.2:c.1968G>T, XM_017028293.1:c.1968G>T, XM_011529501.2:c.1971G>T, XM_011529501.1:c.1971G>T, XM_011529502.2:c.1971G>T, XM_011529502.1:c.1971G>T, XR_007067786.1:n.1975G>T, XR_007067785.1:n.2212G>T, XR_007067784.1:n.2212G>T, NM_001410751.1:c.1863G>T, XM_047440707.1:c.1968G>T, XM_047440708.1:c.1866G>T, XM_047440709.1:c.1863G>T, XM_047440710.1:c.1839G>T, XM_047440711.1:c.1839G>T, XM_047440716.1:c.1971G>T, XM_047440712.1:c.1734G>T, XM_047440713.1:c.1734G>T, XM_047440715.1:c.1611G>T, XM_047440714.1:c.1971G>T, XM_047440717.1:c.1968G>T, XM_047440718.1:c.1866G>T, XM_047440719.1:c.1863G>T, XM_047440720.1:c.1734G>T, NM_001146114.1:c.1671G>T, NP_055966.2:p.Gln621His, NP_996772.1:p.Gln621His, NP_996774.1:p.Gln621His, NP_996773.1:p.Gln621His, NP_001340871.1:p.Gln622His, NP_001139588.1:p.Gln617His, NP_001340872.1:p.Gln621His, NP_001139587.1:p.Gln578His, NP_001340873.1:p.Gln538His, XP_016883791.1:p.Gln537His, XP_016883782.1:p.Gln656His, XP_011527803.1:p.Gln657His, XP_011527804.1:p.Gln657His, XP_047296663.1:p.Gln656His, XP_047296664.1:p.Gln622His, XP_047296665.1:p.Gln621His, XP_047296666.1:p.Gln613His, XP_047296667.1:p.Gln613His, XP_047296672.1:p.Gln657His, XP_047296668.1:p.Gln578His, XP_047296669.1:p.Gln578His, XP_047296671.1:p.Gln537His, XP_047296670.1:p.Gln657His, XP_047296673.1:p.Gln656His, XP_047296674.1:p.Gln622His, XP_047296675.1:p.Gln621His, XP_047296676.1:p.Gln578His

                        12.

                        rs1483090022 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          21:46558251 (GRCh38)
                          21:47978164 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:46558250:G:A
                          Gene:
                          DIP2A (Varview)
                          Functional Consequence:
                          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000132/2 (ALFA)
                          A=0.000008/2 (TOPMED)
                          A=0.000223/1 (Estonian)
                          HGVS:
                          NC_000021.9:g.46558251G>A, NC_000021.8:g.47978164G>A, NG_015996.1:g.104303G>A, NM_015151.4:c.3827G>A, NM_015151.3:c.3827G>A, NM_001353942.2:c.3830G>A, NM_001353942.1:c.3830G>A, NM_001146116.2:c.3815G>A, NM_001146116.1:c.3815G>A, NM_001353943.2:c.3827G>A, NM_001353943.1:c.3827G>A, XM_017028302.3:c.3575G>A, XM_017028302.2:c.3575G>A, XM_017028302.1:c.3575G>A, XM_017028293.2:c.3932G>A, XM_017028293.1:c.3932G>A, XR_007067786.1:n.3939G>A, XR_007067785.1:n.4176G>A, XR_007067784.1:n.4176G>A, NM_001410751.1:c.3827G>A, XM_047440707.1:c.3932G>A, XM_047440708.1:c.3830G>A, XM_047440709.1:c.3827G>A, XM_047440710.1:c.3803G>A, XM_047440711.1:c.3803G>A, XM_047440716.1:c.3935G>A, XM_047440712.1:c.3698G>A, XM_047440713.1:c.3698G>A, XM_047440715.1:c.3575G>A, XM_047440714.1:c.3935G>A, NP_055966.2:p.Arg1276His, NP_001340871.1:p.Arg1277His, NP_001139588.1:p.Arg1272His, NP_001340872.1:p.Arg1276His, XP_016883791.1:p.Arg1192His, XP_016883782.1:p.Arg1311His, XP_047296663.1:p.Arg1311His, XP_047296664.1:p.Arg1277His, XP_047296665.1:p.Arg1276His, XP_047296666.1:p.Arg1268His, XP_047296667.1:p.Arg1268His, XP_047296672.1:p.Arg1312His, XP_047296668.1:p.Arg1233His, XP_047296669.1:p.Arg1233His, XP_047296671.1:p.Arg1192His, XP_047296670.1:p.Arg1312His

                          13.

                          rs1481727928 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            21:46554900 (GRCh38)
                            21:47974813 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:46554899:G:A
                            Gene:
                            DIP2A (Varview)
                            Functional Consequence:
                            missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                            HGVS:
                            NC_000021.9:g.46554900G>A, NC_000021.8:g.47974813G>A, NG_015996.1:g.100952G>A, NM_015151.4:c.3355G>A, NM_015151.3:c.3355G>A, NM_001353942.2:c.3358G>A, NM_001353942.1:c.3358G>A, NM_001146116.2:c.3343G>A, NM_001146116.1:c.3343G>A, NM_001353943.2:c.3355G>A, NM_001353943.1:c.3355G>A, XM_017028302.3:c.3103G>A, XM_017028302.2:c.3103G>A, XM_017028302.1:c.3103G>A, XM_017028293.2:c.3460G>A, XM_017028293.1:c.3460G>A, XM_011529501.2:c.3463G>A, XM_011529501.1:c.3463G>A, XR_007067786.1:n.3467G>A, XR_007067785.1:n.3704G>A, XR_007067784.1:n.3704G>A, NM_001410751.1:c.3355G>A, XM_047440707.1:c.3460G>A, XM_047440708.1:c.3358G>A, XM_047440709.1:c.3355G>A, XM_047440710.1:c.3331G>A, XM_047440711.1:c.3331G>A, XM_047440716.1:c.3463G>A, XM_047440712.1:c.3226G>A, XM_047440713.1:c.3226G>A, XM_047440715.1:c.3103G>A, XM_047440714.1:c.3463G>A, XM_047440717.1:c.3460G>A, XM_047440718.1:c.3358G>A, XM_047440719.1:c.3355G>A, XM_047440720.1:c.3226G>A, NM_001146114.1:c.3163G>A, NP_055966.2:p.Asp1119Asn, NP_001340871.1:p.Asp1120Asn, NP_001139588.1:p.Asp1115Asn, NP_001340872.1:p.Asp1119Asn, XP_016883791.1:p.Asp1035Asn, XP_016883782.1:p.Asp1154Asn, XP_011527803.1:p.Asp1155Asn, XP_047296663.1:p.Asp1154Asn, XP_047296664.1:p.Asp1120Asn, XP_047296665.1:p.Asp1119Asn, XP_047296666.1:p.Asp1111Asn, XP_047296667.1:p.Asp1111Asn, XP_047296672.1:p.Asp1155Asn, XP_047296668.1:p.Asp1076Asn, XP_047296669.1:p.Asp1076Asn, XP_047296671.1:p.Asp1035Asn, XP_047296670.1:p.Asp1155Asn, XP_047296673.1:p.Asp1154Asn, XP_047296674.1:p.Asp1120Asn, XP_047296675.1:p.Asp1119Asn, XP_047296676.1:p.Asp1076Asn

                            14.

                            rs1480285520 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              21:46560767 (GRCh38)
                              21:47980680 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:46560766:G:T
                              Gene:
                              DIP2A (Varview)
                              Functional Consequence:
                              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000021.9:g.46560767G>T, NC_000021.8:g.47980680G>T, NG_015996.1:g.106819G>T, NM_015151.4:c.4015G>T, NM_015151.3:c.4015G>T, NM_001353942.2:c.4018G>T, NM_001353942.1:c.4018G>T, NM_001146116.2:c.4003G>T, NM_001146116.1:c.4003G>T, NM_001353943.2:c.4015G>T, NM_001353943.1:c.4015G>T, XM_017028302.3:c.3763G>T, XM_017028302.2:c.3763G>T, XM_017028302.1:c.3763G>T, XM_017028293.2:c.4120G>T, XM_017028293.1:c.4120G>T, XR_007067786.1:n.4127G>T, XR_007067785.1:n.4364G>T, XR_007067784.1:n.4364G>T, NM_001410751.1:c.4045G>T, XM_047440707.1:c.4150G>T, XM_047440708.1:c.4048G>T, XM_047440709.1:c.4045G>T, XM_047440710.1:c.4021G>T, XM_047440711.1:c.3991G>T, XM_047440716.1:c.4123G>T, XM_047440712.1:c.3916G>T, XM_047440713.1:c.3886G>T, XM_047440715.1:c.3793G>T, XM_047440714.1:c.4153G>T, NP_055966.2:p.Ala1339Ser, NP_001340871.1:p.Ala1340Ser, NP_001139588.1:p.Ala1335Ser, NP_001340872.1:p.Ala1339Ser, XP_016883791.1:p.Ala1255Ser, XP_016883782.1:p.Ala1374Ser, XP_047296663.1:p.Ala1384Ser, XP_047296664.1:p.Ala1350Ser, XP_047296665.1:p.Ala1349Ser, XP_047296666.1:p.Ala1341Ser, XP_047296667.1:p.Ala1331Ser, XP_047296672.1:p.Ala1375Ser, XP_047296668.1:p.Ala1306Ser, XP_047296669.1:p.Ala1296Ser, XP_047296671.1:p.Ala1265Ser, XP_047296670.1:p.Ala1385Ser

                              15.

                              rs1479960333 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                21:46563861 (GRCh38)
                                21:47983774 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:46563860:C:G,NC_000021.9:46563860:C:T
                                Gene:
                                DIP2A (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                T=0.000008/2 (GnomAD_exomes)
                                G=0.000015/4 (TOPMED)
                                T=0.000035/1 (TOMMO)
                                HGVS:
                                NC_000021.9:g.46563861C>G, NC_000021.9:g.46563861C>T, NC_000021.8:g.47983774C>G, NC_000021.8:g.47983774C>T, NG_015996.1:g.109913C>G, NG_015996.1:g.109913C>T, NM_015151.4:c.4093C>G, NM_015151.4:c.4093C>T, NM_015151.3:c.4093C>G, NM_015151.3:c.4093C>T, NM_001353942.2:c.4096C>G, NM_001353942.2:c.4096C>T, NM_001353942.1:c.4096C>G, NM_001353942.1:c.4096C>T, NM_001146116.2:c.4081C>G, NM_001146116.2:c.4081C>T, NM_001146116.1:c.4081C>G, NM_001146116.1:c.4081C>T, NM_001353943.2:c.4093C>G, NM_001353943.2:c.4093C>T, NM_001353943.1:c.4093C>G, NM_001353943.1:c.4093C>T, XM_017028302.3:c.3841C>G, XM_017028302.3:c.3841C>T, XM_017028302.2:c.3841C>G, XM_017028302.2:c.3841C>T, XM_017028302.1:c.3841C>G, XM_017028302.1:c.3841C>T, XM_017028293.2:c.4198C>G, XM_017028293.2:c.4198C>T, XM_017028293.1:c.4198C>G, XM_017028293.1:c.4198C>T, XR_007067786.1:n.4205C>G, XR_007067786.1:n.4205C>T, XR_007067785.1:n.4442C>G, XR_007067785.1:n.4442C>T, XR_007067784.1:n.4442C>G, XR_007067784.1:n.4442C>T, NM_001410751.1:c.4123C>G, NM_001410751.1:c.4123C>T, XM_047440707.1:c.4228C>G, XM_047440707.1:c.4228C>T, XM_047440708.1:c.4126C>G, XM_047440708.1:c.4126C>T, XM_047440709.1:c.4123C>G, XM_047440709.1:c.4123C>T, XM_047440710.1:c.4099C>G, XM_047440710.1:c.4099C>T, XM_047440711.1:c.4069C>G, XM_047440711.1:c.4069C>T, XM_047440716.1:c.*867C>G, XM_047440716.1:c.*867C>T, XM_047440712.1:c.3994C>G, XM_047440712.1:c.3994C>T, XM_047440713.1:c.3964C>G, XM_047440713.1:c.3964C>T, XM_047440715.1:c.3871C>G, XM_047440715.1:c.3871C>T, XM_047440714.1:c.4343C>G, XM_047440714.1:c.4343C>T, NP_055966.2:p.Leu1365Val, NP_055966.2:p.Leu1365Phe, NP_001340871.1:p.Leu1366Val, NP_001340871.1:p.Leu1366Phe, NP_001139588.1:p.Leu1361Val, NP_001139588.1:p.Leu1361Phe, NP_001340872.1:p.Leu1365Val, NP_001340872.1:p.Leu1365Phe, XP_016883791.1:p.Leu1281Val, XP_016883791.1:p.Leu1281Phe, XP_016883782.1:p.Leu1400Val, XP_016883782.1:p.Leu1400Phe, XP_047296663.1:p.Leu1410Val, XP_047296663.1:p.Leu1410Phe, XP_047296664.1:p.Leu1376Val, XP_047296664.1:p.Leu1376Phe, XP_047296665.1:p.Leu1375Val, XP_047296665.1:p.Leu1375Phe, XP_047296666.1:p.Leu1367Val, XP_047296666.1:p.Leu1367Phe, XP_047296667.1:p.Leu1357Val, XP_047296667.1:p.Leu1357Phe, XP_047296668.1:p.Leu1332Val, XP_047296668.1:p.Leu1332Phe, XP_047296669.1:p.Leu1322Val, XP_047296669.1:p.Leu1322Phe, XP_047296671.1:p.Leu1291Val, XP_047296671.1:p.Leu1291Phe, XP_047296670.1:p.Pro1448Arg, XP_047296670.1:p.Pro1448Leu

                                16.

                                rs1479606266 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  21:46484816 (GRCh38)
                                  21:47904729 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:46484815:C:G
                                  Gene:
                                  DIP2A (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                  HGVS:
                                  NC_000021.9:g.46484816C>G, NC_000021.8:g.47904729C>G, NG_015996.1:g.30868C>G, NM_015151.4:c.151C>G, NM_015151.3:c.151C>G, NM_206889.3:c.151C>G, NM_206889.2:c.151C>G, NM_206891.3:c.151C>G, NM_206891.2:c.151C>G, NM_206890.3:c.151C>G, NM_206890.2:c.151C>G, NM_001353942.2:c.151C>G, NM_001353942.1:c.151C>G, NM_001146116.2:c.151C>G, NM_001146116.1:c.151C>G, NM_001353943.2:c.151C>G, NM_001353943.1:c.151C>G, NM_001146115.2:c.151C>G, NM_001146115.1:c.151C>G, NM_001353944.2:c.151C>G, NM_001353944.1:c.151C>G, XM_017028302.3:c.151C>G, XM_017028302.2:c.151C>G, XM_017028302.1:c.151C>G, XM_017028293.2:c.151C>G, XM_017028293.1:c.151C>G, XM_011529501.2:c.151C>G, XM_011529501.1:c.151C>G, XM_011529502.2:c.151C>G, XM_011529502.1:c.151C>G, XR_007067786.1:n.392C>G, XR_007067785.1:n.392C>G, XR_007067784.1:n.392C>G, NM_001410751.1:c.151C>G, XM_047440707.1:c.151C>G, XM_047440708.1:c.151C>G, XM_047440709.1:c.151C>G, XM_047440710.1:c.151C>G, XM_047440711.1:c.151C>G, XM_047440716.1:c.151C>G, XM_047440712.1:c.151C>G, XM_047440713.1:c.151C>G, XM_047440715.1:c.151C>G, XM_047440714.1:c.151C>G, XM_047440717.1:c.151C>G, XM_047440718.1:c.151C>G, XM_047440719.1:c.151C>G, XM_047440720.1:c.151C>G, NP_055966.2:p.Pro51Ala, NP_996772.1:p.Pro51Ala, NP_996774.1:p.Pro51Ala, NP_996773.1:p.Pro51Ala, NP_001340871.1:p.Pro51Ala, NP_001139588.1:p.Pro51Ala, NP_001340872.1:p.Pro51Ala, NP_001139587.1:p.Pro51Ala, NP_001340873.1:p.Pro51Ala, XP_016883791.1:p.Pro51Ala, XP_016883782.1:p.Pro51Ala, XP_011527803.1:p.Pro51Ala, XP_011527804.1:p.Pro51Ala, XP_047296663.1:p.Pro51Ala, XP_047296664.1:p.Pro51Ala, XP_047296665.1:p.Pro51Ala, XP_047296666.1:p.Pro51Ala, XP_047296667.1:p.Pro51Ala, XP_047296672.1:p.Pro51Ala, XP_047296668.1:p.Pro51Ala, XP_047296669.1:p.Pro51Ala, XP_047296671.1:p.Pro51Ala, XP_047296670.1:p.Pro51Ala, XP_047296673.1:p.Pro51Ala, XP_047296674.1:p.Pro51Ala, XP_047296675.1:p.Pro51Ala, XP_047296676.1:p.Pro51Ala

                                  17.

                                  rs1479571486 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    21:46558368 (GRCh38)
                                    21:47978281 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:46558367:G:A
                                    Gene:
                                    DIP2A (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                                    HGVS:
                                    NC_000021.9:g.46558368G>A, NC_000021.8:g.47978281G>A, NG_015996.1:g.104420G>A, NM_015151.4:c.3944G>A, NM_015151.3:c.3944G>A, NM_001353942.2:c.3947G>A, NM_001353942.1:c.3947G>A, NM_001146116.2:c.3932G>A, NM_001146116.1:c.3932G>A, NM_001353943.2:c.3944G>A, NM_001353943.1:c.3944G>A, XM_017028302.3:c.3692G>A, XM_017028302.2:c.3692G>A, XM_017028302.1:c.3692G>A, XM_017028293.2:c.4049G>A, XM_017028293.1:c.4049G>A, XR_007067786.1:n.4056G>A, XR_007067785.1:n.4293G>A, XR_007067784.1:n.4293G>A, NM_001410751.1:c.3944G>A, XM_047440707.1:c.4049G>A, XM_047440708.1:c.3947G>A, XM_047440709.1:c.3944G>A, XM_047440710.1:c.3920G>A, XM_047440711.1:c.3920G>A, XM_047440716.1:c.4052G>A, XM_047440712.1:c.3815G>A, XM_047440713.1:c.3815G>A, XM_047440715.1:c.3692G>A, XM_047440714.1:c.4052G>A, NP_055966.2:p.Arg1315Lys, NP_001340871.1:p.Arg1316Lys, NP_001139588.1:p.Arg1311Lys, NP_001340872.1:p.Arg1315Lys, XP_016883791.1:p.Arg1231Lys, XP_016883782.1:p.Arg1350Lys, XP_047296663.1:p.Arg1350Lys, XP_047296664.1:p.Arg1316Lys, XP_047296665.1:p.Arg1315Lys, XP_047296666.1:p.Arg1307Lys, XP_047296667.1:p.Arg1307Lys, XP_047296672.1:p.Arg1351Lys, XP_047296668.1:p.Arg1272Lys, XP_047296669.1:p.Arg1272Lys, XP_047296671.1:p.Arg1231Lys, XP_047296670.1:p.Arg1351Lys

                                    18.

                                    rs1479567659 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      21:46545232 (GRCh38)
                                      21:47965145 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:46545231:G:A
                                      Gene:
                                      DIP2A (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000021.9:g.46545232G>A, NC_000021.8:g.47965145G>A, NG_015996.1:g.91284G>A, NM_015151.4:c.2272G>A, NM_015151.3:c.2272G>A, NM_206889.3:c.2272G>A, NM_206889.2:c.2272G>A, NM_206891.3:c.2272G>A, NM_206891.2:c.2272G>A, NM_206890.3:c.2272G>A, NM_206890.2:c.2272G>A, NM_001353942.2:c.2275G>A, NM_001353942.1:c.2275G>A, NM_001146116.2:c.2260G>A, NM_001146116.1:c.2260G>A, NM_001353943.2:c.2272G>A, NM_001353943.1:c.2272G>A, NM_001146115.2:c.2143G>A, NM_001146115.1:c.2143G>A, NM_001353944.2:c.2023G>A, NM_001353944.1:c.2023G>A, XM_017028302.3:c.2020G>A, XM_017028302.2:c.2020G>A, XM_017028302.1:c.2020G>A, XM_017028293.2:c.2377G>A, XM_017028293.1:c.2377G>A, XM_011529501.2:c.2380G>A, XM_011529501.1:c.2380G>A, XM_011529502.2:c.2380G>A, XM_011529502.1:c.2380G>A, XR_007067786.1:n.2384G>A, XR_007067785.1:n.2621G>A, XR_007067784.1:n.2621G>A, NM_001410751.1:c.2272G>A, XM_047440707.1:c.2377G>A, XM_047440708.1:c.2275G>A, XM_047440709.1:c.2272G>A, XM_047440710.1:c.2248G>A, XM_047440711.1:c.2248G>A, XM_047440716.1:c.2380G>A, XM_047440712.1:c.2143G>A, XM_047440713.1:c.2143G>A, XM_047440715.1:c.2020G>A, XM_047440714.1:c.2380G>A, XM_047440717.1:c.2377G>A, XM_047440718.1:c.2275G>A, XM_047440719.1:c.2272G>A, XM_047440720.1:c.2143G>A, NM_001146114.1:c.2080G>A, NP_055966.2:p.Ala758Thr, NP_996772.1:p.Ala758Thr, NP_996774.1:p.Ala758Thr, NP_996773.1:p.Ala758Thr, NP_001340871.1:p.Ala759Thr, NP_001139588.1:p.Ala754Thr, NP_001340872.1:p.Ala758Thr, NP_001139587.1:p.Ala715Thr, NP_001340873.1:p.Ala675Thr, XP_016883791.1:p.Ala674Thr, XP_016883782.1:p.Ala793Thr, XP_011527803.1:p.Ala794Thr, XP_011527804.1:p.Ala794Thr, XP_047296663.1:p.Ala793Thr, XP_047296664.1:p.Ala759Thr, XP_047296665.1:p.Ala758Thr, XP_047296666.1:p.Ala750Thr, XP_047296667.1:p.Ala750Thr, XP_047296672.1:p.Ala794Thr, XP_047296668.1:p.Ala715Thr, XP_047296669.1:p.Ala715Thr, XP_047296671.1:p.Ala674Thr, XP_047296670.1:p.Ala794Thr, XP_047296673.1:p.Ala793Thr, XP_047296674.1:p.Ala759Thr, XP_047296675.1:p.Ala758Thr, XP_047296676.1:p.Ala715Thr

                                      19.

                                      rs1479018269 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        21:46558326 (GRCh38)
                                        21:47978239 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:46558325:T:G
                                        Gene:
                                        DIP2A (Varview)
                                        Functional Consequence:
                                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                                        HGVS:
                                        NC_000021.9:g.46558326T>G, NC_000021.8:g.47978239T>G, NG_015996.1:g.104378T>G, NM_015151.4:c.3902T>G, NM_015151.3:c.3902T>G, NM_001353942.2:c.3905T>G, NM_001353942.1:c.3905T>G, NM_001146116.2:c.3890T>G, NM_001146116.1:c.3890T>G, NM_001353943.2:c.3902T>G, NM_001353943.1:c.3902T>G, XM_017028302.3:c.3650T>G, XM_017028302.2:c.3650T>G, XM_017028302.1:c.3650T>G, XM_017028293.2:c.4007T>G, XM_017028293.1:c.4007T>G, XR_007067786.1:n.4014T>G, XR_007067785.1:n.4251T>G, XR_007067784.1:n.4251T>G, NM_001410751.1:c.3902T>G, XM_047440707.1:c.4007T>G, XM_047440708.1:c.3905T>G, XM_047440709.1:c.3902T>G, XM_047440710.1:c.3878T>G, XM_047440711.1:c.3878T>G, XM_047440716.1:c.4010T>G, XM_047440712.1:c.3773T>G, XM_047440713.1:c.3773T>G, XM_047440715.1:c.3650T>G, XM_047440714.1:c.4010T>G, NP_055966.2:p.Leu1301Arg, NP_001340871.1:p.Leu1302Arg, NP_001139588.1:p.Leu1297Arg, NP_001340872.1:p.Leu1301Arg, XP_016883791.1:p.Leu1217Arg, XP_016883782.1:p.Leu1336Arg, XP_047296663.1:p.Leu1336Arg, XP_047296664.1:p.Leu1302Arg, XP_047296665.1:p.Leu1301Arg, XP_047296666.1:p.Leu1293Arg, XP_047296667.1:p.Leu1293Arg, XP_047296672.1:p.Leu1337Arg, XP_047296668.1:p.Leu1258Arg, XP_047296669.1:p.Leu1258Arg, XP_047296671.1:p.Leu1217Arg, XP_047296670.1:p.Leu1337Arg

                                        20.

                                        rs1478743770 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AGA>- [Show Flanks]
                                          Chromosome:
                                          21:46556000 (GRCh38)
                                          21:47975913 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:46555995:AAGAAGA:AAGA
                                          Gene:
                                          DIP2A (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,inframe_deletion,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          AAGA=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000021.9:g.46555997AGA[1], NC_000021.8:g.47975910AGA[1], NG_015996.1:g.102049AGA[1], NM_015151.4:c.3404AGA[1], NM_015151.3:c.3404AGA[1], NM_001353942.2:c.3407AGA[1], NM_001353942.1:c.3407AGA[1], NM_001146116.2:c.3392AGA[1], NM_001146116.1:c.3392AGA[1], NM_001353943.2:c.3404AGA[1], NM_001353943.1:c.3404AGA[1], XM_017028302.3:c.3152AGA[1], XM_017028302.2:c.3152AGA[1], XM_017028302.1:c.3152AGA[1], XM_017028293.2:c.3509AGA[1], XM_017028293.1:c.3509AGA[1], XM_011529501.2:c.3512AGA[1], XM_011529501.1:c.3512AGA[1], XR_007067786.1:n.3516AGA[1], XR_007067785.1:n.3753AGA[1], XR_007067784.1:n.3753AGA[1], NM_001410751.1:c.3404AGA[1], XM_047440707.1:c.3509AGA[1], XM_047440708.1:c.3407AGA[1], XM_047440709.1:c.3404AGA[1], XM_047440710.1:c.3380AGA[1], XM_047440711.1:c.3380AGA[1], XM_047440716.1:c.3512AGA[1], XM_047440712.1:c.3275AGA[1], XM_047440713.1:c.3275AGA[1], XM_047440715.1:c.3152AGA[1], XM_047440714.1:c.3512AGA[1], XM_047440717.1:c.3509AGA[1], XM_047440718.1:c.3407AGA[1], XM_047440719.1:c.3404AGA[1], XM_047440720.1:c.3275AGA[1], NM_001146114.1:c.3212AGA[1], NP_055966.2:p.Lys1136del, NP_001340871.1:p.Lys1137del, NP_001139588.1:p.Lys1132del, NP_001340872.1:p.Lys1136del, XP_016883791.1:p.Lys1052del, XP_016883782.1:p.Lys1171del, XP_011527803.1:p.Lys1172del, XP_047296663.1:p.Lys1171del, XP_047296664.1:p.Lys1137del, XP_047296665.1:p.Lys1136del, XP_047296666.1:p.Lys1128del, XP_047296667.1:p.Lys1128del, XP_047296672.1:p.Lys1172del, XP_047296668.1:p.Lys1093del, XP_047296669.1:p.Lys1093del, XP_047296671.1:p.Lys1052del, XP_047296670.1:p.Lys1172del, XP_047296673.1:p.Lys1171del, XP_047296674.1:p.Lys1137del, XP_047296675.1:p.Lys1136del, XP_047296676.1:p.Lys1093del

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