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Items: 1 to 20 of 135

1.

rs1485648464 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    21:46286981 (GRCh38)
    21:47706895 (GRCh37)
    Canonical SPDI:
    NC_000021.9:46286980:T:A
    Gene:
    MCM3AP (Varview), YBEY (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000021.9:g.46286981T>A, NC_000021.8:g.47706895T>A, NG_033881.1:g.3342A>T, XM_005261156.5:c.68T>A, XM_005261156.4:c.455T>A, XM_005261156.3:c.455T>A, XM_005261156.2:c.68T>A, XM_005261156.1:c.68T>A, NM_001006114.3:c.68T>A, NM_001006114.2:c.68T>A, NM_001006114.1:c.68T>A, XM_011529635.3:c.68T>A, XM_011529635.2:c.68T>A, XM_011529635.1:c.68T>A, XM_011529630.3:c.68T>A, XM_011529630.2:c.68T>A, XM_011529630.1:c.68T>A, NM_058181.3:c.68T>A, NM_058181.2:c.68T>A, NM_058181.1:c.68T>A, XM_011529633.3:c.68T>A, XM_011529633.2:c.68T>A, XM_011529633.1:c.68T>A, XM_011529629.3:c.68T>A, XM_011529629.2:c.68T>A, XM_011529629.1:c.68T>A, XM_011529634.3:c.68T>A, XM_011529634.2:c.455T>A, XM_011529634.1:c.68T>A, XM_011529631.3:c.68T>A, XM_011529631.2:c.68T>A, XM_011529631.1:c.68T>A, NM_001314026.2:c.68T>A, NM_001314026.1:c.68T>A, NM_001314022.2:c.68T>A, NM_001314022.1:c.68T>A, NM_001314025.2:c.68T>A, NM_001314025.1:c.68T>A, XM_017028394.2:c.68T>A, XM_017028394.1:c.455T>A, NM_001314023.2:c.68T>A, NM_001314023.1:c.68T>A, NM_001314024.2:c.68T>A, NM_001314024.1:c.68T>A, XM_047440898.1:c.68T>A, XM_047440900.1:c.68T>A, XM_047440899.1:c.68T>A, XM_047440901.1:c.68T>A, XM_047440902.1:c.68T>A, XM_047440903.1:c.68T>A, XM_047440897.1:c.68T>A, XP_005261213.3:p.Ile23Asn, NP_001006114.1:p.Ile23Asn, XP_011527937.1:p.Ile23Asn, XP_011527932.1:p.Ile23Asn, NP_478061.1:p.Ile23Asn, XP_011527935.1:p.Ile23Asn, XP_011527931.1:p.Ile23Asn, XP_011527936.3:p.Ile23Asn, XP_011527933.1:p.Ile23Asn, NP_001300955.1:p.Ile23Asn, NP_001300951.1:p.Ile23Asn, NP_001300954.1:p.Ile23Asn, XP_016883883.2:p.Ile23Asn, NP_001300952.1:p.Ile23Asn, NP_001300953.1:p.Ile23Asn, XP_047296854.1:p.Ile23Asn, XP_047296856.1:p.Ile23Asn, XP_047296855.1:p.Ile23Asn, XP_047296857.1:p.Ile23Asn, XP_047296858.1:p.Ile23Asn, XP_047296859.1:p.Ile23Asn, XP_047296853.1:p.Ile23Asn

    2.

    rs1485117022 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      21:46291413 (GRCh38)
      21:47711327 (GRCh37)
      Canonical SPDI:
      NC_000021.9:46291412:A:G
      Gene:
      YBEY (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      G=0.000106/2 (TOMMO)
      HGVS:
      NC_000021.9:g.46291413A>G, NC_000021.8:g.47711327A>G, NM_001006114.3:c.290A>G, NM_001006114.2:c.290A>G, NM_001006114.1:c.290A>G, XM_011529635.3:c.290A>G, XM_011529635.2:c.290A>G, XM_011529635.1:c.290A>G, XM_011529630.3:c.290A>G, XM_011529630.2:c.290A>G, XM_011529630.1:c.290A>G, NM_058181.3:c.290A>G, NM_058181.2:c.290A>G, NM_058181.1:c.290A>G, XM_011529633.3:c.290A>G, XM_011529633.2:c.290A>G, XM_011529633.1:c.290A>G, XM_011529629.3:c.290A>G, XM_011529629.2:c.290A>G, XM_011529629.1:c.290A>G, XM_011529631.3:c.290A>G, XM_011529631.2:c.290A>G, XM_011529631.1:c.290A>G, NM_001314026.2:c.290A>G, NM_001314026.1:c.290A>G, NM_001314025.2:c.290A>G, NM_001314025.1:c.290A>G, NM_001314023.2:c.155A>G, NM_001314023.1:c.155A>G, XM_047440898.1:c.290A>G, XM_047440901.1:c.290A>G, XM_047440902.1:c.290A>G, XM_047440897.1:c.290A>G, NP_001006114.1:p.Tyr97Cys, XP_011527937.1:p.Tyr97Cys, XP_011527932.1:p.Tyr97Cys, NP_478061.1:p.Tyr97Cys, XP_011527935.1:p.Tyr97Cys, XP_011527931.1:p.Tyr97Cys, XP_011527933.1:p.Tyr97Cys, NP_001300955.1:p.Tyr97Cys, NP_001300954.1:p.Tyr97Cys, NP_001300952.1:p.Tyr52Cys, XP_047296854.1:p.Tyr97Cys, XP_047296857.1:p.Tyr97Cys, XP_047296858.1:p.Tyr97Cys, XP_047296853.1:p.Tyr97Cys

      3.

      rs1484635684 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->TTG [Show Flanks]
        Chromosome:
        21:46287091 (GRCh38)
        21:47707006 (GRCh37)
        Canonical SPDI:
        NC_000021.9:46287091::TTG
        Gene:
        MCM3AP (Varview), YBEY (Varview)
        Functional Consequence:
        intron_variant,inframe_indel,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
        HGVS:
        NC_000021.9:g.46287091_46287092insTTG, NC_000021.8:g.47707005_47707006insTTG, NG_033881.1:g.3231_3232insCAA, XM_005261156.5:c.178_179insTTG, XM_005261156.4:c.565_566insTTG, XM_005261156.3:c.565_566insTTG, XM_005261156.2:c.178_179insTTG, XM_005261156.1:c.178_179insTTG, NM_001006114.3:c.178_179insTTG, NM_001006114.2:c.178_179insTTG, NM_001006114.1:c.178_179insTTG, XM_011529635.3:c.178_179insTTG, XM_011529635.2:c.178_179insTTG, XM_011529635.1:c.178_179insTTG, XM_011529630.3:c.178_179insTTG, XM_011529630.2:c.178_179insTTG, XM_011529630.1:c.178_179insTTG, NM_058181.3:c.178_179insTTG, NM_058181.2:c.178_179insTTG, NM_058181.1:c.178_179insTTG, XM_011529633.3:c.178_179insTTG, XM_011529633.2:c.178_179insTTG, XM_011529633.1:c.178_179insTTG, XM_011529629.3:c.178_179insTTG, XM_011529629.2:c.178_179insTTG, XM_011529629.1:c.178_179insTTG, XM_011529634.3:c.178_179insTTG, XM_011529634.2:c.565_566insTTG, XM_011529634.1:c.178_179insTTG, XM_011529631.3:c.178_179insTTG, XM_011529631.2:c.178_179insTTG, XM_011529631.1:c.178_179insTTG, NM_001314026.2:c.178_179insTTG, NM_001314026.1:c.178_179insTTG, NM_001314022.2:c.178_179insTTG, NM_001314022.1:c.178_179insTTG, NM_001314025.2:c.178_179insTTG, NM_001314025.1:c.178_179insTTG, XM_017028394.2:c.178_179insTTG, XM_017028394.1:c.565_566insTTG, XM_047440898.1:c.178_179insTTG, XM_047440900.1:c.178_179insTTG, XM_047440899.1:c.178_179insTTG, XM_047440901.1:c.178_179insTTG, XM_047440902.1:c.178_179insTTG, XM_047440903.1:c.178_179insTTG, XM_047440897.1:c.178_179insTTG, XP_005261213.3:p.Pro60delinsLeuAla, NP_001006114.1:p.Pro60delinsLeuAla, XP_011527937.1:p.Pro60delinsLeuAla, XP_011527932.1:p.Pro60delinsLeuAla, NP_478061.1:p.Pro60delinsLeuAla, XP_011527935.1:p.Pro60delinsLeuAla, XP_011527931.1:p.Pro60delinsLeuAla, XP_011527936.3:p.Pro60delinsLeuAla, XP_011527933.1:p.Pro60delinsLeuAla, NP_001300955.1:p.Pro60delinsLeuAla, NP_001300951.1:p.Pro60delinsLeuAla, NP_001300954.1:p.Pro60delinsLeuAla, XP_016883883.2:p.Pro60delinsLeuAla, XP_047296854.1:p.Pro60delinsLeuAla, XP_047296856.1:p.Pro60delinsLeuAla, XP_047296855.1:p.Pro60delinsLeuAla, XP_047296857.1:p.Pro60delinsLeuAla, XP_047296858.1:p.Pro60delinsLeuAla, XP_047296859.1:p.Pro60delinsLeuAla, XP_047296853.1:p.Pro60delinsLeuAla

        4.

        rs1484081139 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          21:46287082 (GRCh38)
          21:47706996 (GRCh37)
          Canonical SPDI:
          NC_000021.9:46287081:A:G
          Gene:
          MCM3AP (Varview), YBEY (Varview)
          Functional Consequence:
          intron_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000021.9:g.46287082A>G, NC_000021.8:g.47706996A>G, NG_033881.1:g.3241T>C, XM_005261156.5:c.169A>G, XM_005261156.4:c.556A>G, XM_005261156.3:c.556A>G, XM_005261156.2:c.169A>G, XM_005261156.1:c.169A>G, NM_001006114.3:c.169A>G, NM_001006114.2:c.169A>G, NM_001006114.1:c.169A>G, XM_011529635.3:c.169A>G, XM_011529635.2:c.169A>G, XM_011529635.1:c.169A>G, XM_011529630.3:c.169A>G, XM_011529630.2:c.169A>G, XM_011529630.1:c.169A>G, NM_058181.3:c.169A>G, NM_058181.2:c.169A>G, NM_058181.1:c.169A>G, XM_011529633.3:c.169A>G, XM_011529633.2:c.169A>G, XM_011529633.1:c.169A>G, XM_011529629.3:c.169A>G, XM_011529629.2:c.169A>G, XM_011529629.1:c.169A>G, XM_011529634.3:c.169A>G, XM_011529634.2:c.556A>G, XM_011529634.1:c.169A>G, XM_011529631.3:c.169A>G, XM_011529631.2:c.169A>G, XM_011529631.1:c.169A>G, NM_001314026.2:c.169A>G, NM_001314026.1:c.169A>G, NM_001314022.2:c.169A>G, NM_001314022.1:c.169A>G, NM_001314025.2:c.169A>G, NM_001314025.1:c.169A>G, XM_017028394.2:c.169A>G, XM_017028394.1:c.556A>G, XM_047440898.1:c.169A>G, XM_047440900.1:c.169A>G, XM_047440899.1:c.169A>G, XM_047440901.1:c.169A>G, XM_047440902.1:c.169A>G, XM_047440903.1:c.169A>G, XM_047440897.1:c.169A>G, XP_005261213.3:p.Arg57Gly, NP_001006114.1:p.Arg57Gly, XP_011527937.1:p.Arg57Gly, XP_011527932.1:p.Arg57Gly, NP_478061.1:p.Arg57Gly, XP_011527935.1:p.Arg57Gly, XP_011527931.1:p.Arg57Gly, XP_011527936.3:p.Arg57Gly, XP_011527933.1:p.Arg57Gly, NP_001300955.1:p.Arg57Gly, NP_001300951.1:p.Arg57Gly, NP_001300954.1:p.Arg57Gly, XP_016883883.2:p.Arg57Gly, XP_047296854.1:p.Arg57Gly, XP_047296856.1:p.Arg57Gly, XP_047296855.1:p.Arg57Gly, XP_047296857.1:p.Arg57Gly, XP_047296858.1:p.Arg57Gly, XP_047296859.1:p.Arg57Gly, XP_047296853.1:p.Arg57Gly

          5.

          rs1483461887 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C,G [Show Flanks]
            Chromosome:
            21:46287076 (GRCh38)
            21:47706990 (GRCh37)
            Canonical SPDI:
            NC_000021.9:46287075:A:C,NC_000021.9:46287075:A:G
            Gene:
            MCM3AP (Varview), YBEY (Varview)
            Functional Consequence:
            intron_variant,missense_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            NC_000021.9:g.46287076A>C, NC_000021.9:g.46287076A>G, NC_000021.8:g.47706990A>C, NC_000021.8:g.47706990A>G, NG_033881.1:g.3247T>G, NG_033881.1:g.3247T>C, XM_005261156.5:c.163A>C, XM_005261156.5:c.163A>G, XM_005261156.4:c.550A>C, XM_005261156.4:c.550A>G, XM_005261156.3:c.550A>C, XM_005261156.3:c.550A>G, XM_005261156.2:c.163A>C, XM_005261156.2:c.163A>G, XM_005261156.1:c.163A>C, XM_005261156.1:c.163A>G, NM_001006114.3:c.163A>C, NM_001006114.3:c.163A>G, NM_001006114.2:c.163A>C, NM_001006114.2:c.163A>G, NM_001006114.1:c.163A>C, NM_001006114.1:c.163A>G, XM_011529635.3:c.163A>C, XM_011529635.3:c.163A>G, XM_011529635.2:c.163A>C, XM_011529635.2:c.163A>G, XM_011529635.1:c.163A>C, XM_011529635.1:c.163A>G, XM_011529630.3:c.163A>C, XM_011529630.3:c.163A>G, XM_011529630.2:c.163A>C, XM_011529630.2:c.163A>G, XM_011529630.1:c.163A>C, XM_011529630.1:c.163A>G, NM_058181.3:c.163A>C, NM_058181.3:c.163A>G, NM_058181.2:c.163A>C, NM_058181.2:c.163A>G, NM_058181.1:c.163A>C, NM_058181.1:c.163A>G, XM_011529633.3:c.163A>C, XM_011529633.3:c.163A>G, XM_011529633.2:c.163A>C, XM_011529633.2:c.163A>G, XM_011529633.1:c.163A>C, XM_011529633.1:c.163A>G, XM_011529629.3:c.163A>C, XM_011529629.3:c.163A>G, XM_011529629.2:c.163A>C, XM_011529629.2:c.163A>G, XM_011529629.1:c.163A>C, XM_011529629.1:c.163A>G, XM_011529634.3:c.163A>C, XM_011529634.3:c.163A>G, XM_011529634.2:c.550A>C, XM_011529634.2:c.550A>G, XM_011529634.1:c.163A>C, XM_011529634.1:c.163A>G, XM_011529631.3:c.163A>C, XM_011529631.3:c.163A>G, XM_011529631.2:c.163A>C, XM_011529631.2:c.163A>G, XM_011529631.1:c.163A>C, XM_011529631.1:c.163A>G, NM_001314026.2:c.163A>C, NM_001314026.2:c.163A>G, NM_001314026.1:c.163A>C, NM_001314026.1:c.163A>G, NM_001314022.2:c.163A>C, NM_001314022.2:c.163A>G, NM_001314022.1:c.163A>C, NM_001314022.1:c.163A>G, NM_001314025.2:c.163A>C, NM_001314025.2:c.163A>G, NM_001314025.1:c.163A>C, NM_001314025.1:c.163A>G, XM_017028394.2:c.163A>C, XM_017028394.2:c.163A>G, XM_017028394.1:c.550A>C, XM_017028394.1:c.550A>G, XM_047440898.1:c.163A>C, XM_047440898.1:c.163A>G, XM_047440900.1:c.163A>C, XM_047440900.1:c.163A>G, XM_047440899.1:c.163A>C, XM_047440899.1:c.163A>G, XM_047440901.1:c.163A>C, XM_047440901.1:c.163A>G, XM_047440902.1:c.163A>C, XM_047440902.1:c.163A>G, XM_047440903.1:c.163A>C, XM_047440903.1:c.163A>G, XM_047440897.1:c.163A>C, XM_047440897.1:c.163A>G, XP_005261213.3:p.Arg55Gly, NP_001006114.1:p.Arg55Gly, XP_011527937.1:p.Arg55Gly, XP_011527932.1:p.Arg55Gly, NP_478061.1:p.Arg55Gly, XP_011527935.1:p.Arg55Gly, XP_011527931.1:p.Arg55Gly, XP_011527936.3:p.Arg55Gly, XP_011527933.1:p.Arg55Gly, NP_001300955.1:p.Arg55Gly, NP_001300951.1:p.Arg55Gly, NP_001300954.1:p.Arg55Gly, XP_016883883.2:p.Arg55Gly, XP_047296854.1:p.Arg55Gly, XP_047296856.1:p.Arg55Gly, XP_047296855.1:p.Arg55Gly, XP_047296857.1:p.Arg55Gly, XP_047296858.1:p.Arg55Gly, XP_047296859.1:p.Arg55Gly, XP_047296853.1:p.Arg55Gly

            6.

            rs1472058693 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              21:46291337 (GRCh38)
              21:47711251 (GRCh37)
              Canonical SPDI:
              NC_000021.9:46291336:C:G
              Gene:
              YBEY (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0.000071/1 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              NC_000021.9:g.46291337C>G, NC_000021.8:g.47711251C>G, NM_001006114.3:c.214C>G, NM_001006114.2:c.214C>G, NM_001006114.1:c.214C>G, XM_011529635.3:c.214C>G, XM_011529635.2:c.214C>G, XM_011529635.1:c.214C>G, XM_011529630.3:c.214C>G, XM_011529630.2:c.214C>G, XM_011529630.1:c.214C>G, NM_058181.3:c.214C>G, NM_058181.2:c.214C>G, NM_058181.1:c.214C>G, XM_011529633.3:c.214C>G, XM_011529633.2:c.214C>G, XM_011529633.1:c.214C>G, XM_011529629.3:c.214C>G, XM_011529629.2:c.214C>G, XM_011529629.1:c.214C>G, XM_011529631.3:c.214C>G, XM_011529631.2:c.214C>G, XM_011529631.1:c.214C>G, NM_001314026.2:c.214C>G, NM_001314026.1:c.214C>G, NM_001314025.2:c.214C>G, NM_001314025.1:c.214C>G, NM_001314023.2:c.79C>G, NM_001314023.1:c.79C>G, XM_047440898.1:c.214C>G, XM_047440901.1:c.214C>G, XM_047440902.1:c.214C>G, XM_047440897.1:c.214C>G, NP_001006114.1:p.Leu72Val, XP_011527937.1:p.Leu72Val, XP_011527932.1:p.Leu72Val, NP_478061.1:p.Leu72Val, XP_011527935.1:p.Leu72Val, XP_011527931.1:p.Leu72Val, XP_011527933.1:p.Leu72Val, NP_001300955.1:p.Leu72Val, NP_001300954.1:p.Leu72Val, NP_001300952.1:p.Leu27Val, XP_047296854.1:p.Leu72Val, XP_047296857.1:p.Leu72Val, XP_047296858.1:p.Leu72Val, XP_047296853.1:p.Leu72Val

              7.

              rs1466998363 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                C>- [Show Flanks]
                Chromosome:
                21:46286949 (GRCh38)
                21:47706863 (GRCh37)
                Canonical SPDI:
                NC_000021.9:46286948:CCCC:CCC
                Gene:
                MCM3AP (Varview), YBEY (Varview)
                Functional Consequence:
                coding_sequence_variant,upstream_transcript_variant,frameshift_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CCC=0.0002/1 (ALFA)
                -=0.0002/1 (Estonian)
                HGVS:
                NC_000021.9:g.46286952del, NC_000021.8:g.47706866del, NG_033881.1:g.3374del, XM_005261156.5:c.39del, XM_005261156.4:c.426del, XM_005261156.3:c.426del, XM_005261156.2:c.39del, XM_005261156.1:c.39del, NM_001006114.3:c.39del, NM_001006114.2:c.39del, NM_001006114.1:c.39del, XM_011529635.3:c.39del, XM_011529635.2:c.39del, XM_011529635.1:c.39del, XM_011529630.3:c.39del, XM_011529630.2:c.39del, XM_011529630.1:c.39del, NM_058181.3:c.39del, NM_058181.2:c.39del, NM_058181.1:c.39del, XM_011529633.3:c.39del, XM_011529633.2:c.39del, XM_011529633.1:c.39del, XM_011529629.3:c.39del, XM_011529629.2:c.39del, XM_011529629.1:c.39del, XM_011529634.3:c.39del, XM_011529634.2:c.426del, XM_011529634.1:c.39del, XM_011529631.3:c.39del, XM_011529631.2:c.39del, XM_011529631.1:c.39del, NM_001314026.2:c.39del, NM_001314026.1:c.39del, NM_001314022.2:c.39del, NM_001314022.1:c.39del, NM_001314025.2:c.39del, NM_001314025.1:c.39del, XM_017028394.2:c.39del, XM_017028394.1:c.426del, NM_001314023.2:c.39del, NM_001314023.1:c.39del, NM_001314024.2:c.39del, NM_001314024.1:c.39del, XM_047440898.1:c.39del, XM_047440900.1:c.39del, XM_047440899.1:c.39del, XM_047440901.1:c.39del, XM_047440902.1:c.39del, XM_047440903.1:c.39del, XM_047440897.1:c.39del, XP_005261213.3:p.Ile14fs, NP_001006114.1:p.Ile14fs, XP_011527937.1:p.Ile14fs, XP_011527932.1:p.Ile14fs, NP_478061.1:p.Ile14fs, XP_011527935.1:p.Ile14fs, XP_011527931.1:p.Ile14fs, XP_011527936.3:p.Ile14fs, XP_011527933.1:p.Ile14fs, NP_001300955.1:p.Ile14fs, NP_001300951.1:p.Ile14fs, NP_001300954.1:p.Ile14fs, XP_016883883.2:p.Ile14fs, NP_001300952.1:p.Ile14fs, NP_001300953.1:p.Ile14fs, XP_047296854.1:p.Ile14fs, XP_047296856.1:p.Ile14fs, XP_047296855.1:p.Ile14fs, XP_047296857.1:p.Ile14fs, XP_047296858.1:p.Ile14fs, XP_047296859.1:p.Ile14fs, XP_047296853.1:p.Ile14fs

                8.

                rs1466898144 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  21:46286991 (GRCh38)
                  21:47706905 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:46286990:A:G
                  Gene:
                  MCM3AP (Varview), YBEY (Varview)
                  Functional Consequence:
                  intron_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000008/2 (TOPMED)
                  G=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000021.9:g.46286991A>G, NC_000021.8:g.47706905A>G, NG_033881.1:g.3332T>C, XM_005261156.5:c.78A>G, XM_005261156.4:c.465A>G, XM_005261156.3:c.465A>G, XM_005261156.2:c.78A>G, XM_005261156.1:c.78A>G, NM_001006114.3:c.78A>G, NM_001006114.2:c.78A>G, NM_001006114.1:c.78A>G, XM_011529635.3:c.78A>G, XM_011529635.2:c.78A>G, XM_011529635.1:c.78A>G, XM_011529630.3:c.78A>G, XM_011529630.2:c.78A>G, XM_011529630.1:c.78A>G, NM_058181.3:c.78A>G, NM_058181.2:c.78A>G, NM_058181.1:c.78A>G, XM_011529633.3:c.78A>G, XM_011529633.2:c.78A>G, XM_011529633.1:c.78A>G, XM_011529629.3:c.78A>G, XM_011529629.2:c.78A>G, XM_011529629.1:c.78A>G, XM_011529634.3:c.78A>G, XM_011529634.2:c.465A>G, XM_011529634.1:c.78A>G, XM_011529631.3:c.78A>G, XM_011529631.2:c.78A>G, XM_011529631.1:c.78A>G, NM_001314026.2:c.78A>G, NM_001314026.1:c.78A>G, NM_001314022.2:c.78A>G, NM_001314022.1:c.78A>G, NM_001314025.2:c.78A>G, NM_001314025.1:c.78A>G, XM_017028394.2:c.78A>G, XM_017028394.1:c.465A>G, XM_047440898.1:c.78A>G, XM_047440900.1:c.78A>G, XM_047440899.1:c.78A>G, XM_047440901.1:c.78A>G, XM_047440902.1:c.78A>G, XM_047440903.1:c.78A>G, XM_047440897.1:c.78A>G

                  9.

                  rs1450286199 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    21:46291357 (GRCh38)
                    21:47711271 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:46291356:C:T
                    Gene:
                    YBEY (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000021.9:g.46291357C>T, NC_000021.8:g.47711271C>T, NM_001006114.3:c.234C>T, NM_001006114.2:c.234C>T, NM_001006114.1:c.234C>T, XM_011529635.3:c.234C>T, XM_011529635.2:c.234C>T, XM_011529635.1:c.234C>T, XM_011529630.3:c.234C>T, XM_011529630.2:c.234C>T, XM_011529630.1:c.234C>T, NM_058181.3:c.234C>T, NM_058181.2:c.234C>T, NM_058181.1:c.234C>T, XM_011529633.3:c.234C>T, XM_011529633.2:c.234C>T, XM_011529633.1:c.234C>T, XM_011529629.3:c.234C>T, XM_011529629.2:c.234C>T, XM_011529629.1:c.234C>T, XM_011529631.3:c.234C>T, XM_011529631.2:c.234C>T, XM_011529631.1:c.234C>T, NM_001314026.2:c.234C>T, NM_001314026.1:c.234C>T, NM_001314025.2:c.234C>T, NM_001314025.1:c.234C>T, NM_001314023.2:c.99C>T, NM_001314023.1:c.99C>T, XM_047440898.1:c.234C>T, XM_047440901.1:c.234C>T, XM_047440902.1:c.234C>T, XM_047440897.1:c.234C>T

                    10.

                    rs1428407913 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      21:46291434 (GRCh38)
                      21:47711348 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:46291433:A:C
                      Gene:
                      YBEY (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,intron_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000008/2 (GnomAD_exomes)
                      HGVS:
                      NC_000021.9:g.46291434A>C, NC_000021.8:g.47711348A>C, NM_001006114.3:c.311A>C, NM_001006114.2:c.311A>C, NM_001006114.1:c.311A>C, XM_011529635.3:c.311A>C, XM_011529635.2:c.311A>C, XM_011529635.1:c.311A>C, XM_011529630.3:c.311A>C, XM_011529630.2:c.311A>C, XM_011529630.1:c.311A>C, NM_058181.3:c.311A>C, NM_058181.2:c.311A>C, NM_058181.1:c.311A>C, XM_011529633.3:c.311A>C, XM_011529633.2:c.311A>C, XM_011529633.1:c.311A>C, XM_011529629.3:c.311A>C, XM_011529629.2:c.311A>C, XM_011529629.1:c.311A>C, XM_011529631.3:c.311A>C, XM_011529631.2:c.311A>C, XM_011529631.1:c.311A>C, NM_001314026.2:c.311A>C, NM_001314026.1:c.311A>C, NM_001314025.2:c.311A>C, NM_001314025.1:c.311A>C, NM_001314023.2:c.176A>C, NM_001314023.1:c.176A>C, XM_047440898.1:c.311A>C, XM_047440901.1:c.311A>C, XM_047440902.1:c.311A>C, XM_047440897.1:c.311A>C, NP_001006114.1:p.Glu104Ala, XP_011527937.1:p.Glu104Ala, XP_011527932.1:p.Glu104Ala, NP_478061.1:p.Glu104Ala, XP_011527935.1:p.Glu104Ala, XP_011527931.1:p.Glu104Ala, XP_011527933.1:p.Glu104Ala, NP_001300955.1:p.Glu104Ala, NP_001300954.1:p.Glu104Ala, NP_001300952.1:p.Glu59Ala, XP_047296854.1:p.Glu104Ala, XP_047296857.1:p.Glu104Ala, XP_047296858.1:p.Glu104Ala, XP_047296853.1:p.Glu104Ala

                      11.

                      rs1425370322 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        21:46286984 (GRCh38)
                        21:47706898 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:46286983:A:T
                        Gene:
                        MCM3AP (Varview), YBEY (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000021.9:g.46286984A>T, NC_000021.8:g.47706898A>T, NG_033881.1:g.3339T>A, XM_005261156.5:c.71A>T, XM_005261156.4:c.458A>T, XM_005261156.3:c.458A>T, XM_005261156.2:c.71A>T, XM_005261156.1:c.71A>T, NM_001006114.3:c.71A>T, NM_001006114.2:c.71A>T, NM_001006114.1:c.71A>T, XM_011529635.3:c.71A>T, XM_011529635.2:c.71A>T, XM_011529635.1:c.71A>T, XM_011529630.3:c.71A>T, XM_011529630.2:c.71A>T, XM_011529630.1:c.71A>T, NM_058181.3:c.71A>T, NM_058181.2:c.71A>T, NM_058181.1:c.71A>T, XM_011529633.3:c.71A>T, XM_011529633.2:c.71A>T, XM_011529633.1:c.71A>T, XM_011529629.3:c.71A>T, XM_011529629.2:c.71A>T, XM_011529629.1:c.71A>T, XM_011529634.3:c.71A>T, XM_011529634.2:c.458A>T, XM_011529634.1:c.71A>T, XM_011529631.3:c.71A>T, XM_011529631.2:c.71A>T, XM_011529631.1:c.71A>T, NM_001314026.2:c.71A>T, NM_001314026.1:c.71A>T, NM_001314022.2:c.71A>T, NM_001314022.1:c.71A>T, NM_001314025.2:c.71A>T, NM_001314025.1:c.71A>T, XM_017028394.2:c.71A>T, XM_017028394.1:c.458A>T, NM_001314023.2:c.71A>T, NM_001314023.1:c.71A>T, NM_001314024.2:c.71A>T, NM_001314024.1:c.71A>T, XM_047440898.1:c.71A>T, XM_047440900.1:c.71A>T, XM_047440899.1:c.71A>T, XM_047440901.1:c.71A>T, XM_047440902.1:c.71A>T, XM_047440903.1:c.71A>T, XM_047440897.1:c.71A>T, XP_005261213.3:p.Glu24Val, NP_001006114.1:p.Glu24Val, XP_011527937.1:p.Glu24Val, XP_011527932.1:p.Glu24Val, NP_478061.1:p.Glu24Val, XP_011527935.1:p.Glu24Val, XP_011527931.1:p.Glu24Val, XP_011527936.3:p.Glu24Val, XP_011527933.1:p.Glu24Val, NP_001300955.1:p.Glu24Val, NP_001300951.1:p.Glu24Val, NP_001300954.1:p.Glu24Val, XP_016883883.2:p.Glu24Val, NP_001300952.1:p.Glu24Val, NP_001300953.1:p.Glu24Val, XP_047296854.1:p.Glu24Val, XP_047296856.1:p.Glu24Val, XP_047296855.1:p.Glu24Val, XP_047296857.1:p.Glu24Val, XP_047296858.1:p.Glu24Val, XP_047296859.1:p.Glu24Val, XP_047296853.1:p.Glu24Val

                        12.

                        rs1419186566 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          21:46291417 (GRCh38)
                          21:47711331 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:46291416:C:G
                          Gene:
                          YBEY (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000014/2 (GnomAD)
                          G=0.000016/4 (GnomAD_exomes)
                          HGVS:
                          NC_000021.9:g.46291417C>G, NC_000021.8:g.47711331C>G, NM_001006114.3:c.294C>G, NM_001006114.2:c.294C>G, NM_001006114.1:c.294C>G, XM_011529635.3:c.294C>G, XM_011529635.2:c.294C>G, XM_011529635.1:c.294C>G, XM_011529630.3:c.294C>G, XM_011529630.2:c.294C>G, XM_011529630.1:c.294C>G, NM_058181.3:c.294C>G, NM_058181.2:c.294C>G, NM_058181.1:c.294C>G, XM_011529633.3:c.294C>G, XM_011529633.2:c.294C>G, XM_011529633.1:c.294C>G, XM_011529629.3:c.294C>G, XM_011529629.2:c.294C>G, XM_011529629.1:c.294C>G, XM_011529631.3:c.294C>G, XM_011529631.2:c.294C>G, XM_011529631.1:c.294C>G, NM_001314026.2:c.294C>G, NM_001314026.1:c.294C>G, NM_001314025.2:c.294C>G, NM_001314025.1:c.294C>G, NM_001314023.2:c.159C>G, NM_001314023.1:c.159C>G, XM_047440898.1:c.294C>G, XM_047440901.1:c.294C>G, XM_047440902.1:c.294C>G, XM_047440897.1:c.294C>G, NP_001006114.1:p.Ile98Met, XP_011527937.1:p.Ile98Met, XP_011527932.1:p.Ile98Met, NP_478061.1:p.Ile98Met, XP_011527935.1:p.Ile98Met, XP_011527931.1:p.Ile98Met, XP_011527933.1:p.Ile98Met, NP_001300955.1:p.Ile98Met, NP_001300954.1:p.Ile98Met, NP_001300952.1:p.Ile53Met, XP_047296854.1:p.Ile98Met, XP_047296857.1:p.Ile98Met, XP_047296858.1:p.Ile98Met, XP_047296853.1:p.Ile98Met

                          13.

                          rs1417054841 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            21:46286989 (GRCh38)
                            21:47706903 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:46286988:G:A
                            Gene:
                            MCM3AP (Varview), YBEY (Varview)
                            Functional Consequence:
                            coding_sequence_variant,upstream_transcript_variant,splice_donor_variant,missense_variant,2KB_upstream_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000021.9:g.46286989G>A, NC_000021.8:g.47706903G>A, NG_033881.1:g.3334C>T, XM_005261156.5:c.76G>A, XM_005261156.4:c.463G>A, XM_005261156.3:c.463G>A, XM_005261156.2:c.76G>A, XM_005261156.1:c.76G>A, NM_001006114.3:c.76G>A, NM_001006114.2:c.76G>A, NM_001006114.1:c.76G>A, XM_011529635.3:c.76G>A, XM_011529635.2:c.76G>A, XM_011529635.1:c.76G>A, XM_011529630.3:c.76G>A, XM_011529630.2:c.76G>A, XM_011529630.1:c.76G>A, NM_058181.3:c.76G>A, NM_058181.2:c.76G>A, NM_058181.1:c.76G>A, XM_011529633.3:c.76G>A, XM_011529633.2:c.76G>A, XM_011529633.1:c.76G>A, XM_011529629.3:c.76G>A, XM_011529629.2:c.76G>A, XM_011529629.1:c.76G>A, XM_011529634.3:c.76G>A, XM_011529634.2:c.463G>A, XM_011529634.1:c.76G>A, XM_011529631.3:c.76G>A, XM_011529631.2:c.76G>A, XM_011529631.1:c.76G>A, NM_001314026.2:c.76G>A, NM_001314026.1:c.76G>A, NM_001314022.2:c.76G>A, NM_001314022.1:c.76G>A, NM_001314025.2:c.76G>A, NM_001314025.1:c.76G>A, XM_017028394.2:c.76G>A, XM_017028394.1:c.463G>A, XM_047440898.1:c.76G>A, XM_047440900.1:c.76G>A, XM_047440899.1:c.76G>A, XM_047440901.1:c.76G>A, XM_047440902.1:c.76G>A, XM_047440903.1:c.76G>A, XM_047440897.1:c.76G>A, XP_005261213.3:p.Val26Ile, NP_001006114.1:p.Val26Ile, XP_011527937.1:p.Val26Ile, XP_011527932.1:p.Val26Ile, NP_478061.1:p.Val26Ile, XP_011527935.1:p.Val26Ile, XP_011527931.1:p.Val26Ile, XP_011527936.3:p.Val26Ile, XP_011527933.1:p.Val26Ile, NP_001300955.1:p.Val26Ile, NP_001300951.1:p.Val26Ile, NP_001300954.1:p.Val26Ile, XP_016883883.2:p.Val26Ile, XP_047296854.1:p.Val26Ile, XP_047296856.1:p.Val26Ile, XP_047296855.1:p.Val26Ile, XP_047296857.1:p.Val26Ile, XP_047296858.1:p.Val26Ile, XP_047296859.1:p.Val26Ile, XP_047296853.1:p.Val26Ile

                            14.

                            rs1406031521 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CAT>- [Show Flanks]
                              Chromosome:
                              21:46291483 (GRCh38)
                              21:47711397 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:46291480:ATCAT:AT
                              Gene:
                              YBEY (Varview)
                              Functional Consequence:
                              coding_sequence_variant,inframe_deletion,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              AT=0.000111/1 (ALFA)
                              -=0.000004/1 (GnomAD_exomes)
                              HGVS:

                              15.

                              rs1395260973 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                21:46291364 (GRCh38)
                                21:47711278 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:46291363:G:C
                                Gene:
                                YBEY (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000021.9:g.46291364G>C, NC_000021.8:g.47711278G>C, NM_001006114.3:c.241G>C, NM_001006114.2:c.241G>C, NM_001006114.1:c.241G>C, XM_011529635.3:c.241G>C, XM_011529635.2:c.241G>C, XM_011529635.1:c.241G>C, XM_011529630.3:c.241G>C, XM_011529630.2:c.241G>C, XM_011529630.1:c.241G>C, NM_058181.3:c.241G>C, NM_058181.2:c.241G>C, NM_058181.1:c.241G>C, XM_011529633.3:c.241G>C, XM_011529633.2:c.241G>C, XM_011529633.1:c.241G>C, XM_011529629.3:c.241G>C, XM_011529629.2:c.241G>C, XM_011529629.1:c.241G>C, XM_011529631.3:c.241G>C, XM_011529631.2:c.241G>C, XM_011529631.1:c.241G>C, NM_001314026.2:c.241G>C, NM_001314026.1:c.241G>C, NM_001314025.2:c.241G>C, NM_001314025.1:c.241G>C, NM_001314023.2:c.106G>C, NM_001314023.1:c.106G>C, XM_047440898.1:c.241G>C, XM_047440901.1:c.241G>C, XM_047440902.1:c.241G>C, XM_047440897.1:c.241G>C, NP_001006114.1:p.Asp81His, XP_011527937.1:p.Asp81His, XP_011527932.1:p.Asp81His, NP_478061.1:p.Asp81His, XP_011527935.1:p.Asp81His, XP_011527931.1:p.Asp81His, XP_011527933.1:p.Asp81His, NP_001300955.1:p.Asp81His, NP_001300954.1:p.Asp81His, NP_001300952.1:p.Asp36His, XP_047296854.1:p.Asp81His, XP_047296857.1:p.Asp81His, XP_047296858.1:p.Asp81His, XP_047296853.1:p.Asp81His

                                16.

                                rs1390929268 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  21:46287044 (GRCh38)
                                  21:47706958 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:46287043:A:G
                                  Gene:
                                  MCM3AP (Varview), YBEY (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,upstream_transcript_variant,intron_variant,missense_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0.000071/1 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000021.9:g.46287044A>G, NC_000021.8:g.47706958A>G, NG_033881.1:g.3279T>C, XM_005261156.5:c.131A>G, XM_005261156.4:c.518A>G, XM_005261156.3:c.518A>G, XM_005261156.2:c.131A>G, XM_005261156.1:c.131A>G, NM_001006114.3:c.131A>G, NM_001006114.2:c.131A>G, NM_001006114.1:c.131A>G, XM_011529635.3:c.131A>G, XM_011529635.2:c.131A>G, XM_011529635.1:c.131A>G, XM_011529630.3:c.131A>G, XM_011529630.2:c.131A>G, XM_011529630.1:c.131A>G, NM_058181.3:c.131A>G, NM_058181.2:c.131A>G, NM_058181.1:c.131A>G, XM_011529633.3:c.131A>G, XM_011529633.2:c.131A>G, XM_011529633.1:c.131A>G, XM_011529629.3:c.131A>G, XM_011529629.2:c.131A>G, XM_011529629.1:c.131A>G, XM_011529634.3:c.131A>G, XM_011529634.2:c.518A>G, XM_011529634.1:c.131A>G, XM_011529631.3:c.131A>G, XM_011529631.2:c.131A>G, XM_011529631.1:c.131A>G, NM_001314026.2:c.131A>G, NM_001314026.1:c.131A>G, NM_001314022.2:c.131A>G, NM_001314022.1:c.131A>G, NM_001314025.2:c.131A>G, NM_001314025.1:c.131A>G, XM_017028394.2:c.131A>G, XM_017028394.1:c.518A>G, XM_047440898.1:c.131A>G, XM_047440900.1:c.131A>G, XM_047440899.1:c.131A>G, XM_047440901.1:c.131A>G, XM_047440902.1:c.131A>G, XM_047440903.1:c.131A>G, XM_047440897.1:c.131A>G, XP_005261213.3:p.Asn44Ser, NP_001006114.1:p.Asn44Ser, XP_011527937.1:p.Asn44Ser, XP_011527932.1:p.Asn44Ser, NP_478061.1:p.Asn44Ser, XP_011527935.1:p.Asn44Ser, XP_011527931.1:p.Asn44Ser, XP_011527936.3:p.Asn44Ser, XP_011527933.1:p.Asn44Ser, NP_001300955.1:p.Asn44Ser, NP_001300951.1:p.Asn44Ser, NP_001300954.1:p.Asn44Ser, XP_016883883.2:p.Asn44Ser, XP_047296854.1:p.Asn44Ser, XP_047296856.1:p.Asn44Ser, XP_047296855.1:p.Asn44Ser, XP_047296857.1:p.Asn44Ser, XP_047296858.1:p.Asn44Ser, XP_047296859.1:p.Asn44Ser, XP_047296853.1:p.Asn44Ser

                                  17.

                                  rs1385214806 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    21:46286936 (GRCh38)
                                    21:47706850 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:46286935:T:G
                                    Gene:
                                    MCM3AP (Varview), YBEY (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000028/1 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000021.9:g.46286936T>G, NC_000021.8:g.47706850T>G, NG_033881.1:g.3387A>C, XM_005261156.5:c.23T>G, XM_005261156.4:c.410T>G, XM_005261156.3:c.410T>G, XM_005261156.2:c.23T>G, XM_005261156.1:c.23T>G, NM_001006114.3:c.23T>G, NM_001006114.2:c.23T>G, NM_001006114.1:c.23T>G, XM_011529635.3:c.23T>G, XM_011529635.2:c.23T>G, XM_011529635.1:c.23T>G, XM_011529630.3:c.23T>G, XM_011529630.2:c.23T>G, XM_011529630.1:c.23T>G, NM_058181.3:c.23T>G, NM_058181.2:c.23T>G, NM_058181.1:c.23T>G, XM_011529633.3:c.23T>G, XM_011529633.2:c.23T>G, XM_011529633.1:c.23T>G, XM_011529629.3:c.23T>G, XM_011529629.2:c.23T>G, XM_011529629.1:c.23T>G, XM_011529634.3:c.23T>G, XM_011529634.2:c.410T>G, XM_011529634.1:c.23T>G, XM_011529631.3:c.23T>G, XM_011529631.2:c.23T>G, XM_011529631.1:c.23T>G, NM_001314026.2:c.23T>G, NM_001314026.1:c.23T>G, NM_001314022.2:c.23T>G, NM_001314022.1:c.23T>G, NM_001314025.2:c.23T>G, NM_001314025.1:c.23T>G, XM_017028394.2:c.23T>G, XM_017028394.1:c.410T>G, NM_001314023.2:c.23T>G, NM_001314023.1:c.23T>G, NM_001314024.2:c.23T>G, NM_001314024.1:c.23T>G, XM_047440898.1:c.23T>G, XM_047440900.1:c.23T>G, XM_047440899.1:c.23T>G, XM_047440901.1:c.23T>G, XM_047440902.1:c.23T>G, XM_047440903.1:c.23T>G, XM_047440897.1:c.23T>G, XP_005261213.3:p.Leu8Arg, NP_001006114.1:p.Leu8Arg, XP_011527937.1:p.Leu8Arg, XP_011527932.1:p.Leu8Arg, NP_478061.1:p.Leu8Arg, XP_011527935.1:p.Leu8Arg, XP_011527931.1:p.Leu8Arg, XP_011527936.3:p.Leu8Arg, XP_011527933.1:p.Leu8Arg, NP_001300955.1:p.Leu8Arg, NP_001300951.1:p.Leu8Arg, NP_001300954.1:p.Leu8Arg, XP_016883883.2:p.Leu8Arg, NP_001300952.1:p.Leu8Arg, NP_001300953.1:p.Leu8Arg, XP_047296854.1:p.Leu8Arg, XP_047296856.1:p.Leu8Arg, XP_047296855.1:p.Leu8Arg, XP_047296857.1:p.Leu8Arg, XP_047296858.1:p.Leu8Arg, XP_047296859.1:p.Leu8Arg, XP_047296853.1:p.Leu8Arg

                                    18.

                                    rs1374085669 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      21:46287115 (GRCh38)
                                      21:47707029 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:46287114:T:C
                                      Gene:
                                      MCM3AP (Varview), YBEY (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000005/1 (GnomAD_exomes)
                                      C=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000021.9:g.46287115T>C, NC_000021.8:g.47707029T>C, NG_033881.1:g.3208A>G, XM_005261156.5:c.202T>C, XM_005261156.4:c.589T>C, XM_005261156.3:c.589T>C, XM_005261156.2:c.202T>C, XM_005261156.1:c.202T>C, NM_001006114.3:c.202T>C, NM_001006114.2:c.202T>C, NM_001006114.1:c.202T>C, XM_011529635.3:c.202T>C, XM_011529635.2:c.202T>C, XM_011529635.1:c.202T>C, XM_011529630.3:c.202T>C, XM_011529630.2:c.202T>C, XM_011529630.1:c.202T>C, NM_058181.3:c.202T>C, NM_058181.2:c.202T>C, NM_058181.1:c.202T>C, XM_011529633.3:c.202T>C, XM_011529633.2:c.202T>C, XM_011529633.1:c.202T>C, XM_011529629.3:c.202T>C, XM_011529629.2:c.202T>C, XM_011529629.1:c.202T>C, XM_011529634.3:c.202T>C, XM_011529634.2:c.589T>C, XM_011529634.1:c.202T>C, XM_011529631.3:c.202T>C, XM_011529631.2:c.202T>C, XM_011529631.1:c.202T>C, NM_001314026.2:c.202T>C, NM_001314026.1:c.202T>C, NM_001314022.2:c.202T>C, NM_001314022.1:c.202T>C, NM_001314025.2:c.202T>C, NM_001314025.1:c.202T>C, XM_017028394.2:c.202T>C, XM_017028394.1:c.589T>C, XM_047440898.1:c.202T>C, XM_047440900.1:c.202T>C, XM_047440899.1:c.202T>C, XM_047440901.1:c.202T>C, XM_047440902.1:c.202T>C, XM_047440903.1:c.202T>C, XM_047440897.1:c.202T>C, XP_005261213.3:p.Phe68Leu, NP_001006114.1:p.Phe68Leu, XP_011527937.1:p.Phe68Leu, XP_011527932.1:p.Phe68Leu, NP_478061.1:p.Phe68Leu, XP_011527935.1:p.Phe68Leu, XP_011527931.1:p.Phe68Leu, XP_011527936.3:p.Phe68Leu, XP_011527933.1:p.Phe68Leu, NP_001300955.1:p.Phe68Leu, NP_001300951.1:p.Phe68Leu, NP_001300954.1:p.Phe68Leu, XP_016883883.2:p.Phe68Leu, XP_047296854.1:p.Phe68Leu, XP_047296856.1:p.Phe68Leu, XP_047296855.1:p.Phe68Leu, XP_047296857.1:p.Phe68Leu, XP_047296858.1:p.Phe68Leu, XP_047296859.1:p.Phe68Leu, XP_047296853.1:p.Phe68Leu

                                      19.

                                      rs1363924065 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        21:46287023 (GRCh38)
                                        21:47706937 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:46287022:T:A
                                        Gene:
                                        MCM3AP (Varview), YBEY (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0.000047/1 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000021.9:g.46287023T>A, NC_000021.8:g.47706937T>A, NG_033881.1:g.3300A>T, XM_005261156.5:c.110T>A, XM_005261156.4:c.497T>A, XM_005261156.3:c.497T>A, XM_005261156.2:c.110T>A, XM_005261156.1:c.110T>A, NM_001006114.3:c.110T>A, NM_001006114.2:c.110T>A, NM_001006114.1:c.110T>A, XM_011529635.3:c.110T>A, XM_011529635.2:c.110T>A, XM_011529635.1:c.110T>A, XM_011529630.3:c.110T>A, XM_011529630.2:c.110T>A, XM_011529630.1:c.110T>A, NM_058181.3:c.110T>A, NM_058181.2:c.110T>A, NM_058181.1:c.110T>A, XM_011529633.3:c.110T>A, XM_011529633.2:c.110T>A, XM_011529633.1:c.110T>A, XM_011529629.3:c.110T>A, XM_011529629.2:c.110T>A, XM_011529629.1:c.110T>A, XM_011529634.3:c.110T>A, XM_011529634.2:c.497T>A, XM_011529634.1:c.110T>A, XM_011529631.3:c.110T>A, XM_011529631.2:c.110T>A, XM_011529631.1:c.110T>A, NM_001314026.2:c.110T>A, NM_001314026.1:c.110T>A, NM_001314022.2:c.110T>A, NM_001314022.1:c.110T>A, NM_001314025.2:c.110T>A, NM_001314025.1:c.110T>A, XM_017028394.2:c.110T>A, XM_017028394.1:c.497T>A, XM_047440898.1:c.110T>A, XM_047440900.1:c.110T>A, XM_047440899.1:c.110T>A, XM_047440901.1:c.110T>A, XM_047440902.1:c.110T>A, XM_047440903.1:c.110T>A, XM_047440897.1:c.110T>A, XP_005261213.3:p.Leu37Gln, NP_001006114.1:p.Leu37Gln, XP_011527937.1:p.Leu37Gln, XP_011527932.1:p.Leu37Gln, NP_478061.1:p.Leu37Gln, XP_011527935.1:p.Leu37Gln, XP_011527931.1:p.Leu37Gln, XP_011527936.3:p.Leu37Gln, XP_011527933.1:p.Leu37Gln, NP_001300955.1:p.Leu37Gln, NP_001300951.1:p.Leu37Gln, NP_001300954.1:p.Leu37Gln, XP_016883883.2:p.Leu37Gln, XP_047296854.1:p.Leu37Gln, XP_047296856.1:p.Leu37Gln, XP_047296855.1:p.Leu37Gln, XP_047296857.1:p.Leu37Gln, XP_047296858.1:p.Leu37Gln, XP_047296859.1:p.Leu37Gln, XP_047296853.1:p.Leu37Gln

                                        20.

                                        rs1357892067 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          CA>- [Show Flanks]
                                          Chromosome:
                                          21:46287075 (GRCh38)
                                          21:47706989 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:46287073:ACA:A
                                          Gene:
                                          MCM3AP (Varview), YBEY (Varview)
                                          Functional Consequence:
                                          stop_gained,inframe_indel,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000021.9:g.46287075_46287076del, NC_000021.8:g.47706989_47706990del, NG_033881.1:g.3248_3249del, XM_005261156.5:c.162_163del, XM_005261156.4:c.549_550del, XM_005261156.3:c.549_550del, XM_005261156.2:c.162_163del, XM_005261156.1:c.162_163del, NM_001006114.3:c.162_163del, NM_001006114.2:c.162_163del, NM_001006114.1:c.162_163del, XM_011529635.3:c.162_163del, XM_011529635.2:c.162_163del, XM_011529635.1:c.162_163del, XM_011529630.3:c.162_163del, XM_011529630.2:c.162_163del, XM_011529630.1:c.162_163del, NM_058181.3:c.162_163del, NM_058181.2:c.162_163del, NM_058181.1:c.162_163del, XM_011529633.3:c.162_163del, XM_011529633.2:c.162_163del, XM_011529633.1:c.162_163del, XM_011529629.3:c.162_163del, XM_011529629.2:c.162_163del, XM_011529629.1:c.162_163del, XM_011529634.3:c.162_163del, XM_011529634.2:c.549_550del, XM_011529634.1:c.162_163del, XM_011529631.3:c.162_163del, XM_011529631.2:c.162_163del, XM_011529631.1:c.162_163del, NM_001314026.2:c.162_163del, NM_001314026.1:c.162_163del, NM_001314022.2:c.162_163del, NM_001314022.1:c.162_163del, NM_001314025.2:c.162_163del, NM_001314025.1:c.162_163del, XM_017028394.2:c.162_163del, XM_017028394.1:c.549_550del, XM_047440898.1:c.162_163del, XM_047440900.1:c.162_163del, XM_047440899.1:c.162_163del, XM_047440901.1:c.162_163del, XM_047440902.1:c.162_163del, XM_047440903.1:c.162_163del, XM_047440897.1:c.162_163del, XP_005261213.3:p.Tyr54_Arg55delinsTer, NP_001006114.1:p.Tyr54_Arg55delinsTer, XP_011527937.1:p.Tyr54_Arg55delinsTer, XP_011527932.1:p.Tyr54_Arg55delinsTer, NP_478061.1:p.Tyr54_Arg55delinsTer, XP_011527935.1:p.Tyr54_Arg55delinsTer, XP_011527931.1:p.Tyr54_Arg55delinsTer, XP_011527936.3:p.Tyr54_Arg55delinsTer, XP_011527933.1:p.Tyr54_Arg55delinsTer, NP_001300955.1:p.Tyr54_Arg55delinsTer, NP_001300951.1:p.Tyr54_Arg55delinsTer, NP_001300954.1:p.Tyr54_Arg55delinsTer, XP_016883883.2:p.Tyr54_Arg55delinsTer, XP_047296854.1:p.Tyr54_Arg55delinsTer, XP_047296856.1:p.Tyr54_Arg55delinsTer, XP_047296855.1:p.Tyr54_Arg55delinsTer, XP_047296857.1:p.Tyr54_Arg55delinsTer, XP_047296858.1:p.Tyr54_Arg55delinsTer, XP_047296859.1:p.Tyr54_Arg55delinsTer, XP_047296853.1:p.Tyr54_Arg55delinsTer

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