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Items: 1 to 20 of 1703

1.

rs1490379276 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    6:30705908 (GRCh38)
    6:30673685 (GRCh37)
    Canonical SPDI:
    NC_000006.12:30705907:G:A
    Gene:
    MDC1 (Varview), MDC1-AS1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,intron_variant
    Validated:
    by frequency,by cluster
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000006.12:g.30705908G>A, NC_000006.11:g.30673685G>A, NT_113891.3:g.2185649G>A, NT_113891.2:g.2185755G>A, NT_167248.2:g.1961022G>A, NT_167248.1:g.1966618G>A, NT_167245.2:g.1961760G>A, NT_167245.1:g.1967345G>A, NT_167249.2:g.2006694G>A, NT_167249.1:g.2005992G>A, NT_167246.2:g.2016160G>A, NT_167246.1:g.2021780G>A, NT_167247.2:g.2049984G>A, NT_167247.1:g.2055569G>A, NT_167244.2:g.2035413G>A, NT_167244.1:g.1985329G>A, XM_005249494.6:c.3275C>T, XM_005249494.5:c.3275C>T, XM_005249494.4:c.3275C>T, XM_005249494.3:c.3275C>T, XM_005249494.2:c.3275C>T, XM_005249494.1:c.3275C>T, XM_005249497.5:c.2768C>T, XM_005249497.4:c.2768C>T, XM_005249497.3:c.2768C>T, XM_005249497.2:c.2768C>T, XM_005249497.1:c.2768C>T, XM_005249498.5:c.2546C>T, XM_005249498.4:c.2546C>T, XM_005249498.3:c.2546C>T, XM_005249498.2:c.2546C>T, XM_005249498.1:c.2546C>T, XM_011515003.4:c.3275C>T, XM_011515003.3:c.3275C>T, XM_011515003.2:c.3275C>T, XM_011515003.1:c.3275C>T, XM_011515004.4:c.2891C>T, XM_011515004.3:c.2891C>T, XM_011515004.2:c.2891C>T, XM_011515004.1:c.2891C>T, XM_005249492.3:c.3338C>T, XM_005249492.2:c.3338C>T, XM_005249492.1:c.3338C>T, NM_014641.3:c.3275C>T, NM_014641.2:c.3275C>T, XM_017011522.3:c.2543C>T, XM_017011522.2:c.2543C>T, XM_017011522.1:c.2543C>T, XM_047419583.1:c.3275C>T, XM_047419581.1:c.3335C>T, XM_047419586.1:c.2705C>T, XM_047419587.1:c.2546C>T, XM_047419588.1:c.2483C>T, XM_047419589.1:c.2480C>T, XM_047419585.1:c.2765C>T, XM_047419580.1:c.3338C>T, XM_047419582.1:c.3275C>T, XM_047419584.1:c.3275C>T, XP_005249551.1:p.Ala1092Val, XP_005249554.1:p.Ala923Val, XP_005249555.1:p.Ala849Val, XP_011513305.1:p.Ala1092Val, XP_011513306.1:p.Ala964Val, XP_005249549.1:p.Ala1113Val, NP_055456.2:p.Ala1092Val, XP_016867011.1:p.Ala848Val, XP_047275539.1:p.Ala1092Val, XP_047275537.1:p.Ala1112Val, XP_047275542.1:p.Ala902Val, XP_047275543.1:p.Ala849Val, XP_047275544.1:p.Ala828Val, XP_047275545.1:p.Ala827Val, XP_047275541.1:p.Ala922Val, XP_047275536.1:p.Ala1113Val, XP_047275538.1:p.Ala1092Val, XP_047275540.1:p.Ala1092Val

    2.

    rs1489434473 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      6:30712188 (GRCh38)
      6:30679965 (GRCh37)
      Canonical SPDI:
      NC_000006.12:30712187:G:A
      Gene:
      MDC1 (Varview), MDC1-AS1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,intron_variant
      Validated:
      by frequency
      MAF:
      A=0.000008/2 (GnomAD_exomes)
      HGVS:
      NC_000006.12:g.30712188G>A, NC_000006.11:g.30679965G>A, NT_113891.3:g.2191928G>A, NT_113891.2:g.2192034G>A, NT_167248.2:g.1967300G>A, NT_167248.1:g.1972896G>A, NT_167245.2:g.1968039G>A, NT_167245.1:g.1973624G>A, NT_167249.2:g.2012973G>A, NT_167249.1:g.2012271G>A, NT_167246.2:g.2022439G>A, NT_167246.1:g.2028059G>A, NT_167247.2:g.2056263G>A, NT_167247.1:g.2061848G>A, NT_167244.2:g.2041692G>A, NT_167244.1:g.1991608G>A, XM_005249494.6:c.1754C>T, XM_005249494.5:c.1754C>T, XM_005249494.4:c.1754C>T, XM_005249494.3:c.1754C>T, XM_005249494.2:c.1754C>T, XM_005249494.1:c.1754C>T, XM_005249497.5:c.1817C>T, XM_005249497.4:c.1817C>T, XM_005249497.3:c.1817C>T, XM_005249497.2:c.1817C>T, XM_005249497.1:c.1817C>T, XM_005249498.5:c.1817C>T, XM_005249498.4:c.1817C>T, XM_005249498.3:c.1817C>T, XM_005249498.2:c.1817C>T, XM_005249498.1:c.1817C>T, XM_011515003.4:c.1754C>T, XM_011515003.3:c.1754C>T, XM_011515003.2:c.1754C>T, XM_011515003.1:c.1754C>T, XM_011515004.4:c.1370C>T, XM_011515004.3:c.1370C>T, XM_011515004.2:c.1370C>T, XM_011515004.1:c.1370C>T, XM_005249492.3:c.1817C>T, XM_005249492.2:c.1817C>T, XM_005249492.1:c.1817C>T, NM_014641.3:c.1754C>T, NM_014641.2:c.1754C>T, XM_017011522.3:c.1817C>T, XM_017011522.2:c.1817C>T, XM_017011522.1:c.1817C>T, XM_047419583.1:c.1754C>T, XM_047419581.1:c.1817C>T, XM_047419582.1:c.1754C>T, XM_047419585.1:c.1817C>T, XM_047419586.1:c.1754C>T, XM_047419587.1:c.1817C>T, XM_047419588.1:c.1754C>T, XM_047419589.1:c.1754C>T, XM_047419580.1:c.1817C>T, XM_047419584.1:c.1754C>T, XP_005249551.1:p.Thr585Ile, XP_005249554.1:p.Thr606Ile, XP_005249555.1:p.Thr606Ile, XP_011513305.1:p.Thr585Ile, XP_011513306.1:p.Thr457Ile, XP_005249549.1:p.Thr606Ile, NP_055456.2:p.Thr585Ile, XP_016867011.1:p.Thr606Ile, XP_047275539.1:p.Thr585Ile, XP_047275537.1:p.Thr606Ile, XP_047275538.1:p.Thr585Ile, XP_047275541.1:p.Thr606Ile, XP_047275542.1:p.Thr585Ile, XP_047275543.1:p.Thr606Ile, XP_047275544.1:p.Thr585Ile, XP_047275545.1:p.Thr585Ile, XP_047275536.1:p.Thr606Ile, XP_047275540.1:p.Thr585Ile

      3.

      rs1489214016 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CT>- [Show Flanks]
        Chromosome:
        6:30700627 (GRCh38)
        6:30668404 (GRCh37)
        Canonical SPDI:
        NC_000006.12:30700622:CTCTCT:CTCT
        Gene:
        MDC1 (Varview)
        Functional Consequence:
        coding_sequence_variant,frameshift_variant
        Validated:
        by frequency
        MAF:
        -=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000006.12:g.30700623CT[2], NC_000006.11:g.30668400CT[2], NT_113891.3:g.2180363CT[2], NT_113891.2:g.2180469CT[2], NT_167248.2:g.1955736CT[2], NT_167248.1:g.1961332CT[2], NT_167245.2:g.1956475CT[2], NT_167245.1:g.1962060CT[2], NT_167249.2:g.2001409CT[2], NT_167249.1:g.2000707CT[2], NT_167246.2:g.2010875CT[2], NT_167246.1:g.2016495CT[2], NT_167247.2:g.2044699CT[2], NT_167247.1:g.2050284CT[2], NT_167244.2:g.2030128CT[2], NT_167244.1:g.1980044CT[2], XM_005249494.6:c.6111_6112del, XM_005249494.5:c.6111_6112del, XM_005249494.4:c.6111_6112del, XM_005249494.3:c.6111_6112del, XM_005249494.2:c.6111_6112del, XM_005249494.1:c.6111_6112del, XM_005249497.5:c.5604_5605del, XM_005249497.4:c.5604_5605del, XM_005249497.3:c.5604_5605del, XM_005249497.2:c.5604_5605del, XM_005249497.1:c.5604_5605del, XM_005249498.5:c.5382_5383del, XM_005249498.4:c.5382_5383del, XM_005249498.3:c.5382_5383del, XM_005249498.2:c.5382_5383del, XM_005249498.1:c.5382_5383del, XM_011515003.4:c.6111_6112del, XM_011515003.3:c.6111_6112del, XM_011515003.2:c.6111_6112del, XM_011515003.1:c.6111_6112del, XM_011515004.4:c.5727_5728del, XM_011515004.3:c.5727_5728del, XM_011515004.2:c.5727_5728del, XM_011515004.1:c.5727_5728del, XM_005249492.3:c.6174_6175del, XM_005249492.2:c.6174_6175del, XM_005249492.1:c.6174_6175del, NM_014641.3:c.6111_6112del, NM_014641.2:c.6111_6112del, XM_017011522.3:c.5379_5380del, XM_017011522.2:c.5379_5380del, XM_017011522.1:c.5379_5380del, XM_047419583.1:c.6111_6112del, XM_047419580.1:c.6174_6175del, XM_047419581.1:c.6171_6172del, XM_047419582.1:c.6111_6112del, XM_047419584.1:c.6111_6112del, XM_047419585.1:c.5601_5602del, XM_047419587.1:c.5382_5383del, XM_047419588.1:c.5319_5320del, XM_047419589.1:c.5316_5317del, XM_047419586.1:c.5541_5542del, XP_005249551.1:p.Arg2037fs, XP_005249554.1:p.Arg1868fs, XP_005249555.1:p.Arg1794fs, XP_011513305.1:p.Arg2037fs, XP_011513306.1:p.Arg1909fs, XP_005249549.1:p.Arg2058fs, NP_055456.2:p.Arg2037fs, XP_016867011.1:p.Arg1793fs, XP_047275539.1:p.Arg2037fs, XP_047275536.1:p.Arg2058fs, XP_047275537.1:p.Arg2057fs, XP_047275538.1:p.Arg2037fs, XP_047275540.1:p.Arg2037fs, XP_047275541.1:p.Arg1867fs, XP_047275543.1:p.Arg1794fs, XP_047275544.1:p.Arg1773fs, XP_047275545.1:p.Arg1772fs, XP_047275542.1:p.Arg1847fs

        4.

        rs1488035891 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          6:30705798 (GRCh38)
          6:30673575 (GRCh37)
          Canonical SPDI:
          NC_000006.12:30705797:G:A
          Gene:
          MDC1 (Varview), MDC1-AS1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,intron_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_000006.12:g.30705798G>A, NC_000006.11:g.30673575G>A, NT_113891.3:g.2185539G>A, NT_113891.2:g.2185645G>A, NT_167248.2:g.1960912G>A, NT_167248.1:g.1966508G>A, NT_167245.2:g.1961650G>A, NT_167245.1:g.1967235G>A, NT_167249.2:g.2006584G>A, NT_167249.1:g.2005882G>A, NT_167246.2:g.2016050G>A, NT_167246.1:g.2021670G>A, NT_167247.2:g.2049874G>A, NT_167247.1:g.2055459G>A, NT_167244.2:g.2035303G>A, NT_167244.1:g.1985219G>A, XM_005249494.6:c.3385C>T, XM_005249494.5:c.3385C>T, XM_005249494.4:c.3385C>T, XM_005249494.3:c.3385C>T, XM_005249494.2:c.3385C>T, XM_005249494.1:c.3385C>T, XM_005249497.5:c.2878C>T, XM_005249497.4:c.2878C>T, XM_005249497.3:c.2878C>T, XM_005249497.2:c.2878C>T, XM_005249497.1:c.2878C>T, XM_005249498.5:c.2656C>T, XM_005249498.4:c.2656C>T, XM_005249498.3:c.2656C>T, XM_005249498.2:c.2656C>T, XM_005249498.1:c.2656C>T, XM_011515003.4:c.3385C>T, XM_011515003.3:c.3385C>T, XM_011515003.2:c.3385C>T, XM_011515003.1:c.3385C>T, XM_011515004.4:c.3001C>T, XM_011515004.3:c.3001C>T, XM_011515004.2:c.3001C>T, XM_011515004.1:c.3001C>T, XM_005249492.3:c.3448C>T, XM_005249492.2:c.3448C>T, XM_005249492.1:c.3448C>T, NM_014641.3:c.3385C>T, NM_014641.2:c.3385C>T, XM_017011522.3:c.2653C>T, XM_017011522.2:c.2653C>T, XM_017011522.1:c.2653C>T, XM_047419583.1:c.3385C>T, XM_047419581.1:c.3445C>T, XM_047419585.1:c.2875C>T, XM_047419586.1:c.2815C>T, XM_047419588.1:c.2593C>T, XM_047419589.1:c.2590C>T, XM_047419580.1:c.3448C>T, XM_047419584.1:c.3385C>T, XM_047419587.1:c.2656C>T, XM_047419582.1:c.3385C>T, XP_005249551.1:p.Pro1129Ser, XP_005249554.1:p.Pro960Ser, XP_005249555.1:p.Pro886Ser, XP_011513305.1:p.Pro1129Ser, XP_011513306.1:p.Pro1001Ser, XP_005249549.1:p.Pro1150Ser, NP_055456.2:p.Pro1129Ser, XP_016867011.1:p.Pro885Ser, XP_047275539.1:p.Pro1129Ser, XP_047275537.1:p.Pro1149Ser, XP_047275541.1:p.Pro959Ser, XP_047275542.1:p.Pro939Ser, XP_047275544.1:p.Pro865Ser, XP_047275545.1:p.Pro864Ser, XP_047275536.1:p.Pro1150Ser, XP_047275540.1:p.Pro1129Ser, XP_047275543.1:p.Pro886Ser, XP_047275538.1:p.Pro1129Ser

          5.

          rs1487619003 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            6:30705495 (GRCh38)
            6:30673272 (GRCh37)
            Canonical SPDI:
            NC_000006.12:30705494:C:A,NC_000006.12:30705494:C:T
            Gene:
            MDC1 (Varview), MDC1-AS1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,stop_gained,intron_variant
            Validated:
            by frequency,by cluster
            MAF:
            T=0.00036/6 (TOMMO)
            HGVS:
            NC_000006.12:g.30705495C>A, NC_000006.12:g.30705495C>T, NC_000006.11:g.30673272C>A, NC_000006.11:g.30673272C>T, NT_113891.3:g.2185236C>A, NT_113891.3:g.2185236C>T, NT_113891.2:g.2185342C>A, NT_113891.2:g.2185342C>T, NT_167248.2:g.1960609C>A, NT_167248.2:g.1960609C>T, NT_167248.1:g.1966205C>A, NT_167248.1:g.1966205C>T, NT_167245.2:g.1961347C>A, NT_167245.2:g.1961347C>T, NT_167245.1:g.1966932C>A, NT_167245.1:g.1966932C>T, NT_167249.2:g.2006281C>A, NT_167249.2:g.2006281C>T, NT_167249.1:g.2005579C>A, NT_167249.1:g.2005579C>T, NT_167246.2:g.2015747C>A, NT_167246.2:g.2015747C>T, NT_167246.1:g.2021367C>A, NT_167246.1:g.2021367C>T, NT_167247.2:g.2049571C>A, NT_167247.2:g.2049571C>T, NT_167247.1:g.2055156C>A, NT_167247.1:g.2055156C>T, NT_167244.2:g.2035000C>A, NT_167244.2:g.2035000C>T, NT_167244.1:g.1984916C>A, NT_167244.1:g.1984916C>T, XM_005249494.6:c.3688G>T, XM_005249494.6:c.3688G>A, XM_005249494.5:c.3688G>T, XM_005249494.5:c.3688G>A, XM_005249494.4:c.3688G>T, XM_005249494.4:c.3688G>A, XM_005249494.3:c.3688G>T, XM_005249494.3:c.3688G>A, XM_005249494.2:c.3688G>T, XM_005249494.2:c.3688G>A, XM_005249494.1:c.3688G>T, XM_005249494.1:c.3688G>A, XM_005249497.5:c.3181G>T, XM_005249497.5:c.3181G>A, XM_005249497.4:c.3181G>T, XM_005249497.4:c.3181G>A, XM_005249497.3:c.3181G>T, XM_005249497.3:c.3181G>A, XM_005249497.2:c.3181G>T, XM_005249497.2:c.3181G>A, XM_005249497.1:c.3181G>T, XM_005249497.1:c.3181G>A, XM_005249498.5:c.2959G>T, XM_005249498.5:c.2959G>A, XM_005249498.4:c.2959G>T, XM_005249498.4:c.2959G>A, XM_005249498.3:c.2959G>T, XM_005249498.3:c.2959G>A, XM_005249498.2:c.2959G>T, XM_005249498.2:c.2959G>A, XM_005249498.1:c.2959G>T, XM_005249498.1:c.2959G>A, XM_011515003.4:c.3688G>T, XM_011515003.4:c.3688G>A, XM_011515003.3:c.3688G>T, XM_011515003.3:c.3688G>A, XM_011515003.2:c.3688G>T, XM_011515003.2:c.3688G>A, XM_011515003.1:c.3688G>T, XM_011515003.1:c.3688G>A, XM_011515004.4:c.3304G>T, XM_011515004.4:c.3304G>A, XM_011515004.3:c.3304G>T, XM_011515004.3:c.3304G>A, XM_011515004.2:c.3304G>T, XM_011515004.2:c.3304G>A, XM_011515004.1:c.3304G>T, XM_011515004.1:c.3304G>A, XM_005249492.3:c.3751G>T, XM_005249492.3:c.3751G>A, XM_005249492.2:c.3751G>T, XM_005249492.2:c.3751G>A, XM_005249492.1:c.3751G>T, XM_005249492.1:c.3751G>A, NM_014641.3:c.3688G>T, NM_014641.3:c.3688G>A, NM_014641.2:c.3688G>T, NM_014641.2:c.3688G>A, XM_017011522.3:c.2956G>T, XM_017011522.3:c.2956G>A, XM_017011522.2:c.2956G>T, XM_017011522.2:c.2956G>A, XM_017011522.1:c.2956G>T, XM_017011522.1:c.2956G>A, XM_047419581.1:c.3748G>T, XM_047419581.1:c.3748G>A, XM_047419582.1:c.3688G>T, XM_047419582.1:c.3688G>A, XM_047419585.1:c.3178G>T, XM_047419585.1:c.3178G>A, XM_047419586.1:c.3118G>T, XM_047419586.1:c.3118G>A, XM_047419587.1:c.2959G>T, XM_047419587.1:c.2959G>A, XM_047419588.1:c.2896G>T, XM_047419588.1:c.2896G>A, XM_047419589.1:c.2893G>T, XM_047419589.1:c.2893G>A, XM_047419583.1:c.3688G>T, XM_047419583.1:c.3688G>A, XM_047419580.1:c.3751G>T, XM_047419580.1:c.3751G>A, XM_047419584.1:c.3688G>T, XM_047419584.1:c.3688G>A, XP_005249551.1:p.Gly1230Ter, XP_005249551.1:p.Gly1230Arg, XP_005249554.1:p.Gly1061Ter, XP_005249554.1:p.Gly1061Arg, XP_005249555.1:p.Gly987Ter, XP_005249555.1:p.Gly987Arg, XP_011513305.1:p.Gly1230Ter, XP_011513305.1:p.Gly1230Arg, XP_011513306.1:p.Gly1102Ter, XP_011513306.1:p.Gly1102Arg, XP_005249549.1:p.Gly1251Ter, XP_005249549.1:p.Gly1251Arg, NP_055456.2:p.Gly1230Ter, NP_055456.2:p.Gly1230Arg, XP_016867011.1:p.Gly986Ter, XP_016867011.1:p.Gly986Arg, XP_047275537.1:p.Gly1250Ter, XP_047275537.1:p.Gly1250Arg, XP_047275538.1:p.Gly1230Ter, XP_047275538.1:p.Gly1230Arg, XP_047275541.1:p.Gly1060Ter, XP_047275541.1:p.Gly1060Arg, XP_047275542.1:p.Gly1040Ter, XP_047275542.1:p.Gly1040Arg, XP_047275543.1:p.Gly987Ter, XP_047275543.1:p.Gly987Arg, XP_047275544.1:p.Gly966Ter, XP_047275544.1:p.Gly966Arg, XP_047275545.1:p.Gly965Ter, XP_047275545.1:p.Gly965Arg, XP_047275539.1:p.Gly1230Ter, XP_047275539.1:p.Gly1230Arg, XP_047275536.1:p.Gly1251Ter, XP_047275536.1:p.Gly1251Arg, XP_047275540.1:p.Gly1230Ter, XP_047275540.1:p.Gly1230Arg

            6.

            rs1487605672 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              6:30702767 (GRCh38)
              6:30670544 (GRCh37)
              Canonical SPDI:
              NC_000006.12:30702766:C:T
              Gene:
              MDC1 (Varview), MDC1-AS1 (Varview)
              Functional Consequence:
              coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000006.12:g.30702767C>T, NC_000006.11:g.30670544C>T, NT_113891.3:g.2182508C>T, NT_113891.2:g.2182614C>T, NT_167248.2:g.1957881C>T, NT_167248.1:g.1963477C>T, NT_167245.2:g.1958619C>T, NT_167245.1:g.1964204C>T, NT_167249.2:g.2003553C>T, NT_167249.1:g.2002851C>T, NT_167246.2:g.2013019C>T, NT_167246.1:g.2018639C>T, NT_167247.2:g.2046843C>T, NT_167247.1:g.2052428C>T, NT_167244.2:g.2032272C>T, NT_167244.1:g.1982188C>T, XM_005249494.6:c.5976G>A, XM_005249494.5:c.5976G>A, XM_005249494.4:c.5976G>A, XM_005249494.3:c.5976G>A, XM_005249494.2:c.5976G>A, XM_005249494.1:c.5976G>A, XM_005249497.5:c.5469G>A, XM_005249497.4:c.5469G>A, XM_005249497.3:c.5469G>A, XM_005249497.2:c.5469G>A, XM_005249497.1:c.5469G>A, XM_005249498.5:c.5247G>A, XM_005249498.4:c.5247G>A, XM_005249498.3:c.5247G>A, XM_005249498.2:c.5247G>A, XM_005249498.1:c.5247G>A, XM_011515003.4:c.5976G>A, XM_011515003.3:c.5976G>A, XM_011515003.2:c.5976G>A, XM_011515003.1:c.5976G>A, XM_011515004.4:c.5592G>A, XM_011515004.3:c.5592G>A, XM_011515004.2:c.5592G>A, XM_011515004.1:c.5592G>A, XM_005249492.3:c.6039G>A, XM_005249492.2:c.6039G>A, XM_005249492.1:c.6039G>A, NM_014641.3:c.5976G>A, NM_014641.2:c.5976G>A, XM_017011522.3:c.5244G>A, XM_017011522.2:c.5244G>A, XM_017011522.1:c.5244G>A, XM_047419583.1:c.5976G>A, XM_047419580.1:c.6039G>A, XM_047419581.1:c.6036G>A, XM_047419582.1:c.5976G>A, XM_047419584.1:c.5976G>A, XM_047419585.1:c.5466G>A, XM_047419587.1:c.5247G>A, XM_047419588.1:c.5184G>A, XM_047419589.1:c.5181G>A, XM_047419586.1:c.5406G>A

              7.

              rs1487438149 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                6:30713200 (GRCh38)
                6:30680977 (GRCh37)
                Canonical SPDI:
                NC_000006.12:30713199:A:C
                Gene:
                MDC1 (Varview), MDC1-AS1 (Varview)
                Functional Consequence:
                coding_sequence_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000006.12:g.30713200A>C, NC_000006.11:g.30680977A>C, NT_113891.3:g.2192940A>C, NT_113891.2:g.2193046A>C, NT_167248.2:g.1968312A>C, NT_167248.1:g.1973908A>C, NT_167245.2:g.1969051A>C, NT_167245.1:g.1974636A>C, NT_167249.2:g.2013985A>C, NT_167249.1:g.2013283A>C, NT_167246.2:g.2023451A>C, NT_167246.1:g.2029071A>C, NT_167247.2:g.2057275A>C, NT_167247.1:g.2062860A>C, NT_167244.2:g.2042704A>C, NT_167244.1:g.1992620A>C, XM_005249494.6:c.742T>G, XM_005249494.5:c.742T>G, XM_005249494.4:c.742T>G, XM_005249494.3:c.742T>G, XM_005249494.2:c.742T>G, XM_005249494.1:c.742T>G, XM_005249497.5:c.805T>G, XM_005249497.4:c.805T>G, XM_005249497.3:c.805T>G, XM_005249497.2:c.805T>G, XM_005249497.1:c.805T>G, XM_005249498.5:c.805T>G, XM_005249498.4:c.805T>G, XM_005249498.3:c.805T>G, XM_005249498.2:c.805T>G, XM_005249498.1:c.805T>G, XM_011515003.4:c.742T>G, XM_011515003.3:c.742T>G, XM_011515003.2:c.742T>G, XM_011515003.1:c.742T>G, XM_011515004.4:c.358T>G, XM_011515004.3:c.358T>G, XM_011515004.2:c.358T>G, XM_011515004.1:c.358T>G, XM_005249492.3:c.805T>G, XM_005249492.2:c.805T>G, XM_005249492.1:c.805T>G, NM_014641.3:c.742T>G, NM_014641.2:c.742T>G, XM_017011522.3:c.805T>G, XM_017011522.2:c.805T>G, XM_017011522.1:c.805T>G, XM_047419581.1:c.805T>G, XM_047419580.1:c.805T>G, XM_047419582.1:c.742T>G, XM_047419583.1:c.742T>G, XM_047419589.1:c.742T>G, XM_047419587.1:c.805T>G, XM_047419588.1:c.742T>G, XM_047419585.1:c.805T>G, XM_047419586.1:c.742T>G, XM_047419584.1:c.742T>G, XP_005249551.1:p.Ser248Ala, XP_005249554.1:p.Ser269Ala, XP_005249555.1:p.Ser269Ala, XP_011513305.1:p.Ser248Ala, XP_011513306.1:p.Ser120Ala, XP_005249549.1:p.Ser269Ala, NP_055456.2:p.Ser248Ala, XP_016867011.1:p.Ser269Ala, XP_047275537.1:p.Ser269Ala, XP_047275536.1:p.Ser269Ala, XP_047275538.1:p.Ser248Ala, XP_047275539.1:p.Ser248Ala, XP_047275545.1:p.Ser248Ala, XP_047275543.1:p.Ser269Ala, XP_047275544.1:p.Ser248Ala, XP_047275541.1:p.Ser269Ala, XP_047275542.1:p.Ser248Ala, XP_047275540.1:p.Ser248Ala

                8.

                rs1487128962 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G,T [Show Flanks]
                  Chromosome:
                  6:30705399 (GRCh38)
                  6:30673176 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:30705398:A:G,NC_000006.12:30705398:A:T
                  Gene:
                  MDC1 (Varview), MDC1-AS1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.05463/648 (ALFA)
                  G=0.00029/23 (GnomAD)
                  G=0.00385/63 (TOMMO)
                  G=0.06434/188 (KOREAN)
                  HGVS:
                  NC_000006.12:g.30705399A>G, NC_000006.12:g.30705399A>T, NC_000006.11:g.30673176A>G, NC_000006.11:g.30673176A>T, NT_113891.3:g.2185140A>G, NT_113891.3:g.2185140A>T, NT_113891.2:g.2185246A>G, NT_113891.2:g.2185246A>T, NT_167248.2:g.1960513A>G, NT_167248.2:g.1960513A>T, NT_167248.1:g.1966109A>G, NT_167248.1:g.1966109A>T, NT_167245.2:g.1961251A>G, NT_167245.2:g.1961251A>T, NT_167245.1:g.1966836A>G, NT_167245.1:g.1966836A>T, NT_167249.2:g.2006185A>G, NT_167249.2:g.2006185A>T, NT_167249.1:g.2005483A>G, NT_167249.1:g.2005483A>T, NT_167246.2:g.2015651A>G, NT_167246.2:g.2015651A>T, NT_167246.1:g.2021271A>G, NT_167246.1:g.2021271A>T, NT_167247.2:g.2049475A>G, NT_167247.2:g.2049475A>T, NT_167247.1:g.2055060A>G, NT_167247.1:g.2055060A>T, NT_167244.2:g.2034904A>G, NT_167244.2:g.2034904A>T, NT_167244.1:g.1984820A>G, NT_167244.1:g.1984820A>T, XM_005249494.6:c.3784T>C, XM_005249494.6:c.3784T>A, XM_005249494.5:c.3784T>C, XM_005249494.5:c.3784T>A, XM_005249494.4:c.3784T>C, XM_005249494.4:c.3784T>A, XM_005249494.3:c.3784T>C, XM_005249494.3:c.3784T>A, XM_005249494.2:c.3784T>C, XM_005249494.2:c.3784T>A, XM_005249494.1:c.3784T>C, XM_005249494.1:c.3784T>A, XM_005249497.5:c.3277T>C, XM_005249497.5:c.3277T>A, XM_005249497.4:c.3277T>C, XM_005249497.4:c.3277T>A, XM_005249497.3:c.3277T>C, XM_005249497.3:c.3277T>A, XM_005249497.2:c.3277T>C, XM_005249497.2:c.3277T>A, XM_005249497.1:c.3277T>C, XM_005249497.1:c.3277T>A, XM_005249498.5:c.3055T>C, XM_005249498.5:c.3055T>A, XM_005249498.4:c.3055T>C, XM_005249498.4:c.3055T>A, XM_005249498.3:c.3055T>C, XM_005249498.3:c.3055T>A, XM_005249498.2:c.3055T>C, XM_005249498.2:c.3055T>A, XM_005249498.1:c.3055T>C, XM_005249498.1:c.3055T>A, XM_011515003.4:c.3784T>C, XM_011515003.4:c.3784T>A, XM_011515003.3:c.3784T>C, XM_011515003.3:c.3784T>A, XM_011515003.2:c.3784T>C, XM_011515003.2:c.3784T>A, XM_011515003.1:c.3784T>C, XM_011515003.1:c.3784T>A, XM_011515004.4:c.3400T>C, XM_011515004.4:c.3400T>A, XM_011515004.3:c.3400T>C, XM_011515004.3:c.3400T>A, XM_011515004.2:c.3400T>C, XM_011515004.2:c.3400T>A, XM_011515004.1:c.3400T>C, XM_011515004.1:c.3400T>A, XM_005249492.3:c.3847T>C, XM_005249492.3:c.3847T>A, XM_005249492.2:c.3847T>C, XM_005249492.2:c.3847T>A, XM_005249492.1:c.3847T>C, XM_005249492.1:c.3847T>A, NM_014641.3:c.3784T>C, NM_014641.3:c.3784T>A, NM_014641.2:c.3784T>C, NM_014641.2:c.3784T>A, XM_017011522.3:c.3052T>C, XM_017011522.3:c.3052T>A, XM_017011522.2:c.3052T>C, XM_017011522.2:c.3052T>A, XM_017011522.1:c.3052T>C, XM_017011522.1:c.3052T>A, XM_047419581.1:c.3844T>C, XM_047419581.1:c.3844T>A, XM_047419582.1:c.3784T>C, XM_047419582.1:c.3784T>A, XM_047419585.1:c.3274T>C, XM_047419585.1:c.3274T>A, XM_047419586.1:c.3214T>C, XM_047419586.1:c.3214T>A, XM_047419587.1:c.3055T>C, XM_047419587.1:c.3055T>A, XM_047419588.1:c.2992T>C, XM_047419588.1:c.2992T>A, XM_047419589.1:c.2989T>C, XM_047419589.1:c.2989T>A, XM_047419583.1:c.3784T>C, XM_047419583.1:c.3784T>A, XM_047419580.1:c.3847T>C, XM_047419580.1:c.3847T>A, XM_047419584.1:c.3784T>C, XM_047419584.1:c.3784T>A, XP_005249551.1:p.Ser1262Pro, XP_005249551.1:p.Ser1262Thr, XP_005249554.1:p.Ser1093Pro, XP_005249554.1:p.Ser1093Thr, XP_005249555.1:p.Ser1019Pro, XP_005249555.1:p.Ser1019Thr, XP_011513305.1:p.Ser1262Pro, XP_011513305.1:p.Ser1262Thr, XP_011513306.1:p.Ser1134Pro, XP_011513306.1:p.Ser1134Thr, XP_005249549.1:p.Ser1283Pro, XP_005249549.1:p.Ser1283Thr, NP_055456.2:p.Ser1262Pro, NP_055456.2:p.Ser1262Thr, XP_016867011.1:p.Ser1018Pro, XP_016867011.1:p.Ser1018Thr, XP_047275537.1:p.Ser1282Pro, XP_047275537.1:p.Ser1282Thr, XP_047275538.1:p.Ser1262Pro, XP_047275538.1:p.Ser1262Thr, XP_047275541.1:p.Ser1092Pro, XP_047275541.1:p.Ser1092Thr, XP_047275542.1:p.Ser1072Pro, XP_047275542.1:p.Ser1072Thr, XP_047275543.1:p.Ser1019Pro, XP_047275543.1:p.Ser1019Thr, XP_047275544.1:p.Ser998Pro, XP_047275544.1:p.Ser998Thr, XP_047275545.1:p.Ser997Pro, XP_047275545.1:p.Ser997Thr, XP_047275539.1:p.Ser1262Pro, XP_047275539.1:p.Ser1262Thr, XP_047275536.1:p.Ser1283Pro, XP_047275536.1:p.Ser1283Thr, XP_047275540.1:p.Ser1262Pro, XP_047275540.1:p.Ser1262Thr

                  9.

                  rs1486158347 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    6:30713007 (GRCh38)
                    6:30680784 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:30713006:C:T
                    Gene:
                    MDC1 (Varview), MDC1-AS1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000006.12:g.30713007C>T, NC_000006.11:g.30680784C>T, NT_113891.3:g.2192747C>T, NT_113891.2:g.2192853C>T, NT_167248.2:g.1968119C>T, NT_167248.1:g.1973715C>T, NT_167245.2:g.1968858C>T, NT_167245.1:g.1974443C>T, NT_167249.2:g.2013792C>T, NT_167249.1:g.2013090C>T, NT_167246.2:g.2023258C>T, NT_167246.1:g.2028878C>T, NT_167247.2:g.2057082C>T, NT_167247.1:g.2062667C>T, NT_167244.2:g.2042511C>T, NT_167244.1:g.1992427C>T, XM_005249494.6:c.935G>A, XM_005249494.5:c.935G>A, XM_005249494.4:c.935G>A, XM_005249494.3:c.935G>A, XM_005249494.2:c.935G>A, XM_005249494.1:c.935G>A, XM_005249497.5:c.998G>A, XM_005249497.4:c.998G>A, XM_005249497.3:c.998G>A, XM_005249497.2:c.998G>A, XM_005249497.1:c.998G>A, XM_005249498.5:c.998G>A, XM_005249498.4:c.998G>A, XM_005249498.3:c.998G>A, XM_005249498.2:c.998G>A, XM_005249498.1:c.998G>A, XM_011515003.4:c.935G>A, XM_011515003.3:c.935G>A, XM_011515003.2:c.935G>A, XM_011515003.1:c.935G>A, XM_011515004.4:c.551G>A, XM_011515004.3:c.551G>A, XM_011515004.2:c.551G>A, XM_011515004.1:c.551G>A, XM_005249492.3:c.998G>A, XM_005249492.2:c.998G>A, XM_005249492.1:c.998G>A, NM_014641.3:c.935G>A, NM_014641.2:c.935G>A, XM_017011522.3:c.998G>A, XM_017011522.2:c.998G>A, XM_017011522.1:c.998G>A, XM_047419583.1:c.935G>A, XM_047419581.1:c.998G>A, XM_047419586.1:c.935G>A, XM_047419587.1:c.998G>A, XM_047419588.1:c.935G>A, XM_047419589.1:c.935G>A, XM_047419582.1:c.935G>A, NR_133647.1:n.561C>T, XM_047419585.1:c.998G>A, XM_047419580.1:c.998G>A, XM_047419584.1:c.935G>A, XP_005249551.1:p.Arg312Lys, XP_005249554.1:p.Arg333Lys, XP_005249555.1:p.Arg333Lys, XP_011513305.1:p.Arg312Lys, XP_011513306.1:p.Arg184Lys, XP_005249549.1:p.Arg333Lys, NP_055456.2:p.Arg312Lys, XP_016867011.1:p.Arg333Lys, XP_047275539.1:p.Arg312Lys, XP_047275537.1:p.Arg333Lys, XP_047275542.1:p.Arg312Lys, XP_047275543.1:p.Arg333Lys, XP_047275544.1:p.Arg312Lys, XP_047275545.1:p.Arg312Lys, XP_047275538.1:p.Arg312Lys, XP_047275541.1:p.Arg333Lys, XP_047275536.1:p.Arg333Lys, XP_047275540.1:p.Arg312Lys

                    10.

                    rs1486004108 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      6:30702640 (GRCh38)
                      6:30670417 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:30702639:A:G
                      Gene:
                      MDC1 (Varview), MDC1-AS1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000006.12:g.30702640A>G, NC_000006.11:g.30670417A>G, NT_113891.3:g.2182381A>G, NT_113891.2:g.2182487A>G, NT_167248.2:g.1957754A>G, NT_167248.1:g.1963350A>G, NT_167245.2:g.1958492A>G, NT_167245.1:g.1964077A>G, NT_167249.2:g.2003426A>G, NT_167249.1:g.2002724A>G, NT_167246.2:g.2012892A>G, NT_167246.1:g.2018512A>G, NT_167247.2:g.2046716A>G, NT_167247.1:g.2052301A>G, NT_167244.2:g.2032145A>G, NT_167244.1:g.1982061A>G, XM_005249494.6:c.6015T>C, XM_005249494.5:c.6015T>C, XM_005249494.4:c.6015T>C, XM_005249494.3:c.6015T>C, XM_005249494.2:c.6015T>C, XM_005249494.1:c.6015T>C, XM_005249497.5:c.5508T>C, XM_005249497.4:c.5508T>C, XM_005249497.3:c.5508T>C, XM_005249497.2:c.5508T>C, XM_005249497.1:c.5508T>C, XM_005249498.5:c.5286T>C, XM_005249498.4:c.5286T>C, XM_005249498.3:c.5286T>C, XM_005249498.2:c.5286T>C, XM_005249498.1:c.5286T>C, XM_011515003.4:c.6015T>C, XM_011515003.3:c.6015T>C, XM_011515003.2:c.6015T>C, XM_011515003.1:c.6015T>C, XM_011515004.4:c.5631T>C, XM_011515004.3:c.5631T>C, XM_011515004.2:c.5631T>C, XM_011515004.1:c.5631T>C, XM_005249492.3:c.6078T>C, XM_005249492.2:c.6078T>C, XM_005249492.1:c.6078T>C, NM_014641.3:c.6015T>C, NM_014641.2:c.6015T>C, XM_017011522.3:c.5283T>C, XM_017011522.2:c.5283T>C, XM_017011522.1:c.5283T>C, XM_047419581.1:c.6075T>C, XM_047419580.1:c.6078T>C, XM_047419582.1:c.6015T>C, XM_047419583.1:c.6015T>C, XM_047419589.1:c.5220T>C, XM_047419587.1:c.5286T>C, XM_047419588.1:c.5223T>C, XM_047419585.1:c.5505T>C, XM_047419586.1:c.5445T>C, XM_047419584.1:c.6015T>C

                      11.

                      rs1485338216 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        6:30704721 (GRCh38)
                        6:30672498 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:30704720:T:G
                        Gene:
                        MDC1 (Varview), MDC1-AS1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,intron_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        G=0.00135/23 (TOMMO)
                        HGVS:
                        NC_000006.12:g.30704721T>G, NC_000006.11:g.30672498T>G, NT_113891.3:g.2184462T>G, NT_113891.2:g.2184568T>G, NT_167248.2:g.1959835T>G, NT_167248.1:g.1965431T>G, NT_167245.2:g.1960573T>G, NT_167245.1:g.1966158T>G, NT_167249.2:g.2005507T>G, NT_167249.1:g.2004805T>G, NT_167246.2:g.2014973T>G, NT_167246.1:g.2020593T>G, NT_167247.2:g.2048797T>G, NT_167247.1:g.2054382T>G, NT_167244.2:g.2034226T>G, NT_167244.1:g.1984142T>G, XM_005249494.6:c.4462A>C, XM_005249494.5:c.4462A>C, XM_005249494.4:c.4462A>C, XM_005249494.3:c.4462A>C, XM_005249494.2:c.4462A>C, XM_005249494.1:c.4462A>C, XM_005249497.5:c.3955A>C, XM_005249497.4:c.3955A>C, XM_005249497.3:c.3955A>C, XM_005249497.2:c.3955A>C, XM_005249497.1:c.3955A>C, XM_005249498.5:c.3733A>C, XM_005249498.4:c.3733A>C, XM_005249498.3:c.3733A>C, XM_005249498.2:c.3733A>C, XM_005249498.1:c.3733A>C, XM_011515003.4:c.4462A>C, XM_011515003.3:c.4462A>C, XM_011515003.2:c.4462A>C, XM_011515003.1:c.4462A>C, XM_011515004.4:c.4078A>C, XM_011515004.3:c.4078A>C, XM_011515004.2:c.4078A>C, XM_011515004.1:c.4078A>C, XM_005249492.3:c.4525A>C, XM_005249492.2:c.4525A>C, XM_005249492.1:c.4525A>C, NM_014641.3:c.4462A>C, NM_014641.2:c.4462A>C, XM_017011522.3:c.3730A>C, XM_017011522.2:c.3730A>C, XM_017011522.1:c.3730A>C, XM_047419581.1:c.4522A>C, XM_047419582.1:c.4462A>C, XM_047419585.1:c.3952A>C, XM_047419586.1:c.3892A>C, XM_047419587.1:c.3733A>C, XM_047419588.1:c.3670A>C, XM_047419589.1:c.3667A>C, XM_047419583.1:c.4462A>C, XM_047419580.1:c.4525A>C, XM_047419584.1:c.4462A>C, XP_005249551.1:p.Thr1488Pro, XP_005249554.1:p.Thr1319Pro, XP_005249555.1:p.Thr1245Pro, XP_011513305.1:p.Thr1488Pro, XP_011513306.1:p.Thr1360Pro, XP_005249549.1:p.Thr1509Pro, NP_055456.2:p.Thr1488Pro, XP_016867011.1:p.Thr1244Pro, XP_047275537.1:p.Thr1508Pro, XP_047275538.1:p.Thr1488Pro, XP_047275541.1:p.Thr1318Pro, XP_047275542.1:p.Thr1298Pro, XP_047275543.1:p.Thr1245Pro, XP_047275544.1:p.Thr1224Pro, XP_047275545.1:p.Thr1223Pro, XP_047275539.1:p.Thr1488Pro, XP_047275536.1:p.Thr1509Pro, XP_047275540.1:p.Thr1488Pro

                        12.

                        rs1485307012 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          6:30713239 (GRCh38)
                          6:30681016 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:30713238:A:G
                          Gene:
                          MDC1 (Varview), MDC1-AS1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000006.12:g.30713239A>G, NC_000006.11:g.30681016A>G, NT_113891.3:g.2192979A>G, NT_113891.2:g.2193085A>G, NT_167248.2:g.1968351A>G, NT_167248.1:g.1973947A>G, NT_167245.2:g.1969090A>G, NT_167245.1:g.1974675A>G, NT_167249.2:g.2014024A>G, NT_167249.1:g.2013322A>G, NT_167246.2:g.2023490A>G, NT_167246.1:g.2029110A>G, NT_167247.2:g.2057314A>G, NT_167247.1:g.2062899A>G, NT_167244.2:g.2042743A>G, NT_167244.1:g.1992659A>G, XM_005249494.6:c.703T>C, XM_005249494.5:c.703T>C, XM_005249494.4:c.703T>C, XM_005249494.3:c.703T>C, XM_005249494.2:c.703T>C, XM_005249494.1:c.703T>C, XM_005249497.5:c.766T>C, XM_005249497.4:c.766T>C, XM_005249497.3:c.766T>C, XM_005249497.2:c.766T>C, XM_005249497.1:c.766T>C, XM_005249498.5:c.766T>C, XM_005249498.4:c.766T>C, XM_005249498.3:c.766T>C, XM_005249498.2:c.766T>C, XM_005249498.1:c.766T>C, XM_011515003.4:c.703T>C, XM_011515003.3:c.703T>C, XM_011515003.2:c.703T>C, XM_011515003.1:c.703T>C, XM_011515004.4:c.319T>C, XM_011515004.3:c.319T>C, XM_011515004.2:c.319T>C, XM_011515004.1:c.319T>C, XM_005249492.3:c.766T>C, XM_005249492.2:c.766T>C, XM_005249492.1:c.766T>C, NM_014641.3:c.703T>C, NM_014641.2:c.703T>C, XM_017011522.3:c.766T>C, XM_017011522.2:c.766T>C, XM_017011522.1:c.766T>C, XM_047419581.1:c.766T>C, XM_047419580.1:c.766T>C, XM_047419582.1:c.703T>C, XM_047419583.1:c.703T>C, XM_047419589.1:c.703T>C, XM_047419587.1:c.766T>C, XM_047419588.1:c.703T>C, XM_047419585.1:c.766T>C, XM_047419586.1:c.703T>C, XM_047419584.1:c.703T>C, XP_005249551.1:p.Ser235Pro, XP_005249554.1:p.Ser256Pro, XP_005249555.1:p.Ser256Pro, XP_011513305.1:p.Ser235Pro, XP_011513306.1:p.Ser107Pro, XP_005249549.1:p.Ser256Pro, NP_055456.2:p.Ser235Pro, XP_016867011.1:p.Ser256Pro, XP_047275537.1:p.Ser256Pro, XP_047275536.1:p.Ser256Pro, XP_047275538.1:p.Ser235Pro, XP_047275539.1:p.Ser235Pro, XP_047275545.1:p.Ser235Pro, XP_047275543.1:p.Ser256Pro, XP_047275544.1:p.Ser235Pro, XP_047275541.1:p.Ser256Pro, XP_047275542.1:p.Ser235Pro, XP_047275540.1:p.Ser235Pro

                          13.

                          rs1485286813 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            6:30704000 (GRCh38)
                            6:30671777 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:30703999:C:T
                            Gene:
                            MDC1 (Varview), MDC1-AS1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,intron_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000006.12:g.30704000C>T, NC_000006.11:g.30671777C>T, NT_113891.3:g.2183741C>T, NT_113891.2:g.2183847C>T, NT_167248.2:g.1959114C>T, NT_167248.1:g.1964710C>T, NT_167245.2:g.1959852C>T, NT_167245.1:g.1965437C>T, NT_167249.2:g.2004786C>T, NT_167249.1:g.2004084C>T, NT_167246.2:g.2014252C>T, NT_167246.1:g.2019872C>T, NT_167247.2:g.2048076C>T, NT_167247.1:g.2053661C>T, NT_167244.2:g.2033505C>T, NT_167244.1:g.1983421C>T, XM_005249494.6:c.5183G>A, XM_005249494.5:c.5183G>A, XM_005249494.4:c.5183G>A, XM_005249494.3:c.5183G>A, XM_005249494.2:c.5183G>A, XM_005249494.1:c.5183G>A, XM_005249497.5:c.4676G>A, XM_005249497.4:c.4676G>A, XM_005249497.3:c.4676G>A, XM_005249497.2:c.4676G>A, XM_005249497.1:c.4676G>A, XM_005249498.5:c.4454G>A, XM_005249498.4:c.4454G>A, XM_005249498.3:c.4454G>A, XM_005249498.2:c.4454G>A, XM_005249498.1:c.4454G>A, XM_011515003.4:c.5183G>A, XM_011515003.3:c.5183G>A, XM_011515003.2:c.5183G>A, XM_011515003.1:c.5183G>A, XM_011515004.4:c.4799G>A, XM_011515004.3:c.4799G>A, XM_011515004.2:c.4799G>A, XM_011515004.1:c.4799G>A, XM_005249492.3:c.5246G>A, XM_005249492.2:c.5246G>A, XM_005249492.1:c.5246G>A, NM_014641.3:c.5183G>A, NM_014641.2:c.5183G>A, XM_017011522.3:c.4451G>A, XM_017011522.2:c.4451G>A, XM_017011522.1:c.4451G>A, XM_047419583.1:c.5183G>A, XM_047419581.1:c.5243G>A, XM_047419582.1:c.5183G>A, XM_047419585.1:c.4673G>A, XM_047419586.1:c.4613G>A, XM_047419587.1:c.4454G>A, XM_047419588.1:c.4391G>A, XM_047419589.1:c.4388G>A, XM_047419580.1:c.5246G>A, XM_047419584.1:c.5183G>A, XP_005249551.1:p.Gly1728Glu, XP_005249554.1:p.Gly1559Glu, XP_005249555.1:p.Gly1485Glu, XP_011513305.1:p.Gly1728Glu, XP_011513306.1:p.Gly1600Glu, XP_005249549.1:p.Gly1749Glu, NP_055456.2:p.Gly1728Glu, XP_016867011.1:p.Gly1484Glu, XP_047275539.1:p.Gly1728Glu, XP_047275537.1:p.Gly1748Glu, XP_047275538.1:p.Gly1728Glu, XP_047275541.1:p.Gly1558Glu, XP_047275542.1:p.Gly1538Glu, XP_047275543.1:p.Gly1485Glu, XP_047275544.1:p.Gly1464Glu, XP_047275545.1:p.Gly1463Glu, XP_047275536.1:p.Gly1749Glu, XP_047275540.1:p.Gly1728Glu

                            14.

                            rs1484877740 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              6:30704641 (GRCh38)
                              6:30672418 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:30704640:G:A
                              Gene:
                              MDC1 (Varview), MDC1-AS1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000006.12:g.30704641G>A, NC_000006.11:g.30672418G>A, NT_113891.3:g.2184382G>A, NT_113891.2:g.2184488G>A, NT_167248.2:g.1959755G>A, NT_167248.1:g.1965351G>A, NT_167245.2:g.1960493G>A, NT_167245.1:g.1966078G>A, NT_167249.2:g.2005427G>A, NT_167249.1:g.2004725G>A, NT_167246.2:g.2014893G>A, NT_167246.1:g.2020513G>A, NT_167247.2:g.2048717G>A, NT_167247.1:g.2054302G>A, NT_167244.2:g.2034146G>A, NT_167244.1:g.1984062G>A, XM_005249494.6:c.4542C>T, XM_005249494.5:c.4542C>T, XM_005249494.4:c.4542C>T, XM_005249494.3:c.4542C>T, XM_005249494.2:c.4542C>T, XM_005249494.1:c.4542C>T, XM_005249497.5:c.4035C>T, XM_005249497.4:c.4035C>T, XM_005249497.3:c.4035C>T, XM_005249497.2:c.4035C>T, XM_005249497.1:c.4035C>T, XM_005249498.5:c.3813C>T, XM_005249498.4:c.3813C>T, XM_005249498.3:c.3813C>T, XM_005249498.2:c.3813C>T, XM_005249498.1:c.3813C>T, XM_011515003.4:c.4542C>T, XM_011515003.3:c.4542C>T, XM_011515003.2:c.4542C>T, XM_011515003.1:c.4542C>T, XM_011515004.4:c.4158C>T, XM_011515004.3:c.4158C>T, XM_011515004.2:c.4158C>T, XM_011515004.1:c.4158C>T, XM_005249492.3:c.4605C>T, XM_005249492.2:c.4605C>T, XM_005249492.1:c.4605C>T, NM_014641.3:c.4542C>T, NM_014641.2:c.4542C>T, XM_017011522.3:c.3810C>T, XM_017011522.2:c.3810C>T, XM_017011522.1:c.3810C>T, XM_047419583.1:c.4542C>T, XM_047419581.1:c.4602C>T, XM_047419585.1:c.4032C>T, XM_047419586.1:c.3972C>T, XM_047419587.1:c.3813C>T, XM_047419588.1:c.3750C>T, XM_047419589.1:c.3747C>T, XM_047419580.1:c.4605C>T, XM_047419584.1:c.4542C>T, XM_047419582.1:c.4542C>T

                              15.

                              rs1484606263 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                6:30703173 (GRCh38)
                                6:30670950 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:30703172:G:A
                                Gene:
                                MDC1 (Varview), MDC1-AS1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000006.12:g.30703173G>A, NC_000006.11:g.30670950G>A, NT_113891.3:g.2182914G>A, NT_113891.2:g.2183020G>A, NT_167248.2:g.1958287G>A, NT_167248.1:g.1963883G>A, NT_167245.2:g.1959025G>A, NT_167245.1:g.1964610G>A, NT_167249.2:g.2003959G>A, NT_167249.1:g.2003257G>A, NT_167246.2:g.2013425G>A, NT_167246.1:g.2019045G>A, NT_167247.2:g.2047249G>A, NT_167247.1:g.2052834G>A, NT_167244.2:g.2032678G>A, NT_167244.1:g.1982594G>A, XM_005249494.6:c.5796C>T, XM_005249494.5:c.5796C>T, XM_005249494.4:c.5796C>T, XM_005249494.3:c.5796C>T, XM_005249494.2:c.5796C>T, XM_005249494.1:c.5796C>T, XM_005249497.5:c.5289C>T, XM_005249497.4:c.5289C>T, XM_005249497.3:c.5289C>T, XM_005249497.2:c.5289C>T, XM_005249497.1:c.5289C>T, XM_005249498.5:c.5067C>T, XM_005249498.4:c.5067C>T, XM_005249498.3:c.5067C>T, XM_005249498.2:c.5067C>T, XM_005249498.1:c.5067C>T, XM_011515003.4:c.5796C>T, XM_011515003.3:c.5796C>T, XM_011515003.2:c.5796C>T, XM_011515003.1:c.5796C>T, XM_011515004.4:c.5412C>T, XM_011515004.3:c.5412C>T, XM_011515004.2:c.5412C>T, XM_011515004.1:c.5412C>T, XM_005249492.3:c.5859C>T, XM_005249492.2:c.5859C>T, XM_005249492.1:c.5859C>T, NM_014641.3:c.5796C>T, NM_014641.2:c.5796C>T, XM_017011522.3:c.5064C>T, XM_017011522.2:c.5064C>T, XM_017011522.1:c.5064C>T, XM_047419583.1:c.5796C>T, XM_047419581.1:c.5856C>T, XM_047419586.1:c.5226C>T, XM_047419587.1:c.5067C>T, XM_047419588.1:c.5004C>T, XM_047419589.1:c.5001C>T, XM_047419582.1:c.5796C>T, NR_133647.1:n.107G>A, XM_047419585.1:c.5286C>T, XM_047419580.1:c.5859C>T, XM_047419584.1:c.5796C>T

                                16.

                                rs1484431775 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  6:30703643 (GRCh38)
                                  6:30671420 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:30703642:G:A
                                  Gene:
                                  MDC1 (Varview), MDC1-AS1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,intron_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_000006.12:g.30703643G>A, NC_000006.11:g.30671420G>A, NT_113891.3:g.2183384G>A, NT_113891.2:g.2183490G>A, NT_167248.2:g.1958757G>A, NT_167248.1:g.1964353G>A, NT_167245.2:g.1959495G>A, NT_167245.1:g.1965080G>A, NT_167249.2:g.2004429G>A, NT_167249.1:g.2003727G>A, NT_167246.2:g.2013895G>A, NT_167246.1:g.2019515G>A, NT_167247.2:g.2047719G>A, NT_167247.1:g.2053304G>A, NT_167244.2:g.2033148G>A, NT_167244.1:g.1983064G>A, XM_005249494.6:c.5540C>T, XM_005249494.5:c.5540C>T, XM_005249494.4:c.5540C>T, XM_005249494.3:c.5540C>T, XM_005249494.2:c.5540C>T, XM_005249494.1:c.5540C>T, XM_005249497.5:c.5033C>T, XM_005249497.4:c.5033C>T, XM_005249497.3:c.5033C>T, XM_005249497.2:c.5033C>T, XM_005249497.1:c.5033C>T, XM_005249498.5:c.4811C>T, XM_005249498.4:c.4811C>T, XM_005249498.3:c.4811C>T, XM_005249498.2:c.4811C>T, XM_005249498.1:c.4811C>T, XM_011515003.4:c.5540C>T, XM_011515003.3:c.5540C>T, XM_011515003.2:c.5540C>T, XM_011515003.1:c.5540C>T, XM_011515004.4:c.5156C>T, XM_011515004.3:c.5156C>T, XM_011515004.2:c.5156C>T, XM_011515004.1:c.5156C>T, XM_005249492.3:c.5603C>T, XM_005249492.2:c.5603C>T, XM_005249492.1:c.5603C>T, NM_014641.3:c.5540C>T, NM_014641.2:c.5540C>T, XM_017011522.3:c.4808C>T, XM_017011522.2:c.4808C>T, XM_017011522.1:c.4808C>T, XM_047419583.1:c.5540C>T, XM_047419581.1:c.5600C>T, XM_047419585.1:c.5030C>T, XM_047419586.1:c.4970C>T, XM_047419587.1:c.4811C>T, XM_047419588.1:c.4748C>T, XM_047419589.1:c.4745C>T, XM_047419580.1:c.5603C>T, XM_047419584.1:c.5540C>T, XM_047419582.1:c.5540C>T, XP_005249551.1:p.Ala1847Val, XP_005249554.1:p.Ala1678Val, XP_005249555.1:p.Ala1604Val, XP_011513305.1:p.Ala1847Val, XP_011513306.1:p.Ala1719Val, XP_005249549.1:p.Ala1868Val, NP_055456.2:p.Ala1847Val, XP_016867011.1:p.Ala1603Val, XP_047275539.1:p.Ala1847Val, XP_047275537.1:p.Ala1867Val, XP_047275541.1:p.Ala1677Val, XP_047275542.1:p.Ala1657Val, XP_047275543.1:p.Ala1604Val, XP_047275544.1:p.Ala1583Val, XP_047275545.1:p.Ala1582Val, XP_047275536.1:p.Ala1868Val, XP_047275540.1:p.Ala1847Val, XP_047275538.1:p.Ala1847Val

                                  17.

                                  rs1484053084 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    6:30712404 (GRCh38)
                                    6:30680181 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:30712403:C:T
                                    Gene:
                                    MDC1 (Varview), MDC1-AS1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000006.12:g.30712404C>T, NC_000006.11:g.30680181C>T, NT_113891.3:g.2192144C>T, NT_113891.2:g.2192250C>T, NT_167248.2:g.1967516C>T, NT_167248.1:g.1973112C>T, NT_167245.2:g.1968255C>T, NT_167245.1:g.1973840C>T, NT_167249.2:g.2013189C>T, NT_167249.1:g.2012487C>T, NT_167246.2:g.2022655C>T, NT_167246.1:g.2028275C>T, NT_167247.2:g.2056479C>T, NT_167247.1:g.2062064C>T, NT_167244.2:g.2041908C>T, NT_167244.1:g.1991824C>T, XM_005249494.6:c.1538G>A, XM_005249494.5:c.1538G>A, XM_005249494.4:c.1538G>A, XM_005249494.3:c.1538G>A, XM_005249494.2:c.1538G>A, XM_005249494.1:c.1538G>A, XM_005249497.5:c.1601G>A, XM_005249497.4:c.1601G>A, XM_005249497.3:c.1601G>A, XM_005249497.2:c.1601G>A, XM_005249497.1:c.1601G>A, XM_005249498.5:c.1601G>A, XM_005249498.4:c.1601G>A, XM_005249498.3:c.1601G>A, XM_005249498.2:c.1601G>A, XM_005249498.1:c.1601G>A, XM_011515003.4:c.1538G>A, XM_011515003.3:c.1538G>A, XM_011515003.2:c.1538G>A, XM_011515003.1:c.1538G>A, XM_011515004.4:c.1154G>A, XM_011515004.3:c.1154G>A, XM_011515004.2:c.1154G>A, XM_011515004.1:c.1154G>A, XM_005249492.3:c.1601G>A, XM_005249492.2:c.1601G>A, XM_005249492.1:c.1601G>A, NM_014641.3:c.1538G>A, NM_014641.2:c.1538G>A, XM_017011522.3:c.1601G>A, XM_017011522.2:c.1601G>A, XM_017011522.1:c.1601G>A, XM_047419583.1:c.1538G>A, XM_047419581.1:c.1601G>A, XM_047419582.1:c.1538G>A, XM_047419585.1:c.1601G>A, XM_047419586.1:c.1538G>A, XM_047419587.1:c.1601G>A, XM_047419588.1:c.1538G>A, XM_047419589.1:c.1538G>A, NR_133647.1:n.220C>T, XM_047419580.1:c.1601G>A, XM_047419584.1:c.1538G>A, XP_005249551.1:p.Ser513Asn, XP_005249554.1:p.Ser534Asn, XP_005249555.1:p.Ser534Asn, XP_011513305.1:p.Ser513Asn, XP_011513306.1:p.Ser385Asn, XP_005249549.1:p.Ser534Asn, NP_055456.2:p.Ser513Asn, XP_016867011.1:p.Ser534Asn, XP_047275539.1:p.Ser513Asn, XP_047275537.1:p.Ser534Asn, XP_047275538.1:p.Ser513Asn, XP_047275541.1:p.Ser534Asn, XP_047275542.1:p.Ser513Asn, XP_047275543.1:p.Ser534Asn, XP_047275544.1:p.Ser513Asn, XP_047275545.1:p.Ser513Asn, XP_047275536.1:p.Ser534Asn, XP_047275540.1:p.Ser513Asn

                                    18.

                                    rs1484006647 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      6:30704764 (GRCh38)
                                      6:30672541 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:30704763:A:G
                                      Gene:
                                      MDC1 (Varview), MDC1-AS1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.00067/8 (ALFA)
                                      G=0.00103/29 (TOMMO)
                                      G=0.00582/17 (KOREAN)
                                      HGVS:
                                      NC_000006.12:g.30704764A>G, NC_000006.11:g.30672541A>G, NT_113891.3:g.2184505A>G, NT_113891.2:g.2184611A>G, NT_167248.2:g.1959878A>G, NT_167248.1:g.1965474A>G, NT_167245.2:g.1960616A>G, NT_167245.1:g.1966201A>G, NT_167249.2:g.2005550A>G, NT_167249.1:g.2004848A>G, NT_167246.2:g.2015016A>G, NT_167246.1:g.2020636A>G, NT_167247.2:g.2048840A>G, NT_167247.1:g.2054425A>G, NT_167244.2:g.2034269A>G, NT_167244.1:g.1984185A>G, XM_005249494.6:c.4419T>C, XM_005249494.5:c.4419T>C, XM_005249494.4:c.4419T>C, XM_005249494.3:c.4419T>C, XM_005249494.2:c.4419T>C, XM_005249494.1:c.4419T>C, XM_005249497.5:c.3912T>C, XM_005249497.4:c.3912T>C, XM_005249497.3:c.3912T>C, XM_005249497.2:c.3912T>C, XM_005249497.1:c.3912T>C, XM_005249498.5:c.3690T>C, XM_005249498.4:c.3690T>C, XM_005249498.3:c.3690T>C, XM_005249498.2:c.3690T>C, XM_005249498.1:c.3690T>C, XM_011515003.4:c.4419T>C, XM_011515003.3:c.4419T>C, XM_011515003.2:c.4419T>C, XM_011515003.1:c.4419T>C, XM_011515004.4:c.4035T>C, XM_011515004.3:c.4035T>C, XM_011515004.2:c.4035T>C, XM_011515004.1:c.4035T>C, XM_005249492.3:c.4482T>C, XM_005249492.2:c.4482T>C, XM_005249492.1:c.4482T>C, NM_014641.3:c.4419T>C, NM_014641.2:c.4419T>C, XM_017011522.3:c.3687T>C, XM_017011522.2:c.3687T>C, XM_017011522.1:c.3687T>C, XM_047419583.1:c.4419T>C, XM_047419581.1:c.4479T>C, XM_047419586.1:c.3849T>C, XM_047419587.1:c.3690T>C, XM_047419588.1:c.3627T>C, XM_047419589.1:c.3624T>C, XM_047419585.1:c.3909T>C, XM_047419580.1:c.4482T>C, XM_047419582.1:c.4419T>C, XM_047419584.1:c.4419T>C

                                      19.

                                      rs1484001642 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        6:30712498 (GRCh38)
                                        6:30680275 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:30712497:T:C
                                        Gene:
                                        MDC1 (Varview), MDC1-AS1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000006.12:g.30712498T>C, NC_000006.11:g.30680275T>C, NT_113891.3:g.2192238T>C, NT_113891.2:g.2192344T>C, NT_167248.2:g.1967610T>C, NT_167248.1:g.1973206T>C, NT_167245.2:g.1968349T>C, NT_167245.1:g.1973934T>C, NT_167249.2:g.2013283T>C, NT_167249.1:g.2012581T>C, NT_167246.2:g.2022749T>C, NT_167246.1:g.2028369T>C, NT_167247.2:g.2056573T>C, NT_167247.1:g.2062158T>C, NT_167244.2:g.2042002T>C, NT_167244.1:g.1991918T>C, XM_005249494.6:c.1444A>G, XM_005249494.5:c.1444A>G, XM_005249494.4:c.1444A>G, XM_005249494.3:c.1444A>G, XM_005249494.2:c.1444A>G, XM_005249494.1:c.1444A>G, XM_005249497.5:c.1507A>G, XM_005249497.4:c.1507A>G, XM_005249497.3:c.1507A>G, XM_005249497.2:c.1507A>G, XM_005249497.1:c.1507A>G, XM_005249498.5:c.1507A>G, XM_005249498.4:c.1507A>G, XM_005249498.3:c.1507A>G, XM_005249498.2:c.1507A>G, XM_005249498.1:c.1507A>G, XM_011515003.4:c.1444A>G, XM_011515003.3:c.1444A>G, XM_011515003.2:c.1444A>G, XM_011515003.1:c.1444A>G, XM_011515004.4:c.1060A>G, XM_011515004.3:c.1060A>G, XM_011515004.2:c.1060A>G, XM_011515004.1:c.1060A>G, XM_005249492.3:c.1507A>G, XM_005249492.2:c.1507A>G, XM_005249492.1:c.1507A>G, NM_014641.3:c.1444A>G, NM_014641.2:c.1444A>G, XM_017011522.3:c.1507A>G, XM_017011522.2:c.1507A>G, XM_017011522.1:c.1507A>G, XM_047419583.1:c.1444A>G, XM_047419581.1:c.1507A>G, XM_047419582.1:c.1444A>G, XM_047419585.1:c.1507A>G, XM_047419586.1:c.1444A>G, XM_047419587.1:c.1507A>G, XM_047419588.1:c.1444A>G, XM_047419589.1:c.1444A>G, XM_047419580.1:c.1507A>G, XM_047419584.1:c.1444A>G, XP_005249551.1:p.Arg482Gly, XP_005249554.1:p.Arg503Gly, XP_005249555.1:p.Arg503Gly, XP_011513305.1:p.Arg482Gly, XP_011513306.1:p.Arg354Gly, XP_005249549.1:p.Arg503Gly, NP_055456.2:p.Arg482Gly, XP_016867011.1:p.Arg503Gly, XP_047275539.1:p.Arg482Gly, XP_047275537.1:p.Arg503Gly, XP_047275538.1:p.Arg482Gly, XP_047275541.1:p.Arg503Gly, XP_047275542.1:p.Arg482Gly, XP_047275543.1:p.Arg503Gly, XP_047275544.1:p.Arg482Gly, XP_047275545.1:p.Arg482Gly, XP_047275536.1:p.Arg503Gly, XP_047275540.1:p.Arg482Gly

                                        20.

                                        rs1483865347 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AAG>- [Show Flanks]
                                          Chromosome:
                                          6:30712619 (GRCh38)
                                          6:30680396 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:30712616:AGAAG:AG
                                          Gene:
                                          MDC1 (Varview), MDC1-AS1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,inframe_deletion,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AG=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          -=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000006.12:g.30712619_30712621del, NC_000006.11:g.30680396_30680398del, NT_113891.3:g.2192359_2192361del, NT_113891.2:g.2192465_2192467del, NT_167248.2:g.1967731_1967733del, NT_167248.1:g.1973327_1973329del, NT_167245.2:g.1968470_1968472del, NT_167245.1:g.1974055_1974057del, NT_167249.2:g.2013404_2013406del, NT_167249.1:g.2012702_2012704del, NT_167246.2:g.2022870_2022872del, NT_167246.1:g.2028490_2028492del, NT_167247.2:g.2056694_2056696del, NT_167247.1:g.2062279_2062281del, NT_167244.2:g.2042123_2042125del, NT_167244.1:g.1992039_1992041del, XM_005249494.6:c.1323_1325del, XM_005249494.5:c.1323_1325del, XM_005249494.4:c.1323_1325del, XM_005249494.3:c.1323_1325del, XM_005249494.2:c.1323_1325del, XM_005249494.1:c.1323_1325del, XM_005249497.5:c.1386_1388del, XM_005249497.4:c.1386_1388del, XM_005249497.3:c.1386_1388del, XM_005249497.2:c.1386_1388del, XM_005249497.1:c.1386_1388del, XM_005249498.5:c.1386_1388del, XM_005249498.4:c.1386_1388del, XM_005249498.3:c.1386_1388del, XM_005249498.2:c.1386_1388del, XM_005249498.1:c.1386_1388del, XM_011515003.4:c.1323_1325del, XM_011515003.3:c.1323_1325del, XM_011515003.2:c.1323_1325del, XM_011515003.1:c.1323_1325del, XM_011515004.4:c.939_941del, XM_011515004.3:c.939_941del, XM_011515004.2:c.939_941del, XM_011515004.1:c.939_941del, XM_005249492.3:c.1386_1388del, XM_005249492.2:c.1386_1388del, XM_005249492.1:c.1386_1388del, NM_014641.3:c.1323_1325del, NM_014641.2:c.1323_1325del, XM_017011522.3:c.1386_1388del, XM_017011522.2:c.1386_1388del, XM_017011522.1:c.1386_1388del, XM_047419583.1:c.1323_1325del, XM_047419581.1:c.1386_1388del, XM_047419582.1:c.1323_1325del, XM_047419585.1:c.1386_1388del, XM_047419586.1:c.1323_1325del, XM_047419587.1:c.1386_1388del, XM_047419588.1:c.1323_1325del, XM_047419589.1:c.1323_1325del, XM_047419580.1:c.1386_1388del, XM_047419584.1:c.1323_1325del, XP_005249551.1:p.Leu442del, XP_005249554.1:p.Leu463del, XP_005249555.1:p.Leu463del, XP_011513305.1:p.Leu442del, XP_011513306.1:p.Leu314del, XP_005249549.1:p.Leu463del, NP_055456.2:p.Leu442del, XP_016867011.1:p.Leu463del, XP_047275539.1:p.Leu442del, XP_047275537.1:p.Leu463del, XP_047275538.1:p.Leu442del, XP_047275541.1:p.Leu463del, XP_047275542.1:p.Leu442del, XP_047275543.1:p.Leu463del, XP_047275544.1:p.Leu442del, XP_047275545.1:p.Leu442del, XP_047275536.1:p.Leu463del, XP_047275540.1:p.Leu442del

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