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Items: 1 to 20 of 96

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.

    rs1467048332 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      21:46297631 (GRCh38)
      21:47717545 (GRCh37)
      Canonical SPDI:
      NC_000021.9:46297630:C:T
      Gene:
      YBEY (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      T=0.000008/2 (TOPMED)
      HGVS:

      3.

      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

        4.

        rs1464112985 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          21:46297604 (GRCh38)
          21:47717518 (GRCh37)
          Canonical SPDI:
          NC_000021.9:46297603:C:G
          Gene:
          YBEY (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          G=0.000016/1 (GnomAD_exomes)
          HGVS:

          5.

          rs1458699230 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            21:46297626 (GRCh38)
            21:47717540 (GRCh37)
            Canonical SPDI:
            NC_000021.9:46297625:G:C
            Gene:
            YBEY (Varview)
            Functional Consequence:
            missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            HGVS:

            6.

            rs1456956727 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              21:46297581 (GRCh38)
              21:47717495 (GRCh37)
              Canonical SPDI:
              NC_000021.9:46297580:C:T
              Gene:
              YBEY (Varview)
              Functional Consequence:
              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
              Validated:
              by cluster
              HGVS:

              7.

              rs1456005290 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                21:46296223 (GRCh38)
                21:47716137 (GRCh37)
                Canonical SPDI:
                NC_000021.9:46296222:G:A
                Gene:
                YBEY (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,coding_sequence_variant,stop_gained
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000021.9:g.46296223G>A, NC_000021.8:g.47716137G>A, XM_005261156.5:c.272G>A, XM_005261156.4:c.659G>A, XM_005261156.3:c.659G>A, XM_005261156.2:c.272G>A, XM_005261156.1:c.272G>A, XM_011529635.3:c.401G>A, XM_011529635.2:c.401G>A, XM_011529635.1:c.401G>A, XM_011529630.3:c.401G>A, XM_011529630.2:c.401G>A, XM_011529630.1:c.401G>A, NM_058181.3:c.401G>A, NM_058181.2:c.401G>A, NM_058181.1:c.401G>A, XM_011529633.3:c.401G>A, XM_011529633.2:c.401G>A, XM_011529633.1:c.401G>A, XM_011529629.3:c.401G>A, XM_011529629.2:c.401G>A, XM_011529629.1:c.401G>A, XM_011529634.3:c.272G>A, XM_011529634.2:c.659G>A, XM_011529634.1:c.272G>A, XM_011529631.3:c.401G>A, XM_011529631.2:c.401G>A, XM_011529631.1:c.401G>A, NM_001314022.2:c.272G>A, NM_001314022.1:c.272G>A, NM_001314025.2:c.401G>A, NM_001314025.1:c.401G>A, XM_017028394.2:c.272G>A, XM_017028394.1:c.659G>A, NM_001314023.2:c.266G>A, NM_001314023.1:c.266G>A, NM_001314024.2:c.137G>A, NM_001314024.1:c.137G>A, XM_047440898.1:c.401G>A, XM_047440900.1:c.272G>A, XM_047440899.1:c.272G>A, XM_047440901.1:c.401G>A, XM_047440902.1:c.401G>A, XM_047440903.1:c.272G>A, XM_047440897.1:c.401G>A, XP_005261213.3:p.Trp91Ter, XP_011527937.1:p.Trp134Ter, XP_011527932.1:p.Trp134Ter, NP_478061.1:p.Trp134Ter, XP_011527935.1:p.Trp134Ter, XP_011527931.1:p.Trp134Ter, XP_011527936.3:p.Trp91Ter, XP_011527933.1:p.Trp134Ter, NP_001300951.1:p.Trp91Ter, NP_001300954.1:p.Trp134Ter, XP_016883883.2:p.Trp91Ter, NP_001300952.1:p.Trp89Ter, NP_001300953.1:p.Trp46Ter, XP_047296854.1:p.Trp134Ter, XP_047296856.1:p.Trp91Ter, XP_047296855.1:p.Trp91Ter, XP_047296857.1:p.Trp134Ter, XP_047296858.1:p.Trp134Ter, XP_047296859.1:p.Trp91Ter, XP_047296853.1:p.Trp134Ter

                8.

                rs1454475376 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  21:46297592 (GRCh38)
                  21:47717506 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:46297591:C:T
                  Gene:
                  YBEY (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:

                  9.

                  rs1447395276 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    21:46296209 (GRCh38)
                    21:47716123 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:46296208:C:G,NC_000021.9:46296208:C:T
                    Gene:
                    YBEY (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    T=0.000016/4 (GnomAD_exomes)
                    HGVS:
                    NC_000021.9:g.46296209C>G, NC_000021.9:g.46296209C>T, NC_000021.8:g.47716123C>G, NC_000021.8:g.47716123C>T, XM_005261156.5:c.258C>G, XM_005261156.5:c.258C>T, XM_005261156.4:c.645C>G, XM_005261156.4:c.645C>T, XM_005261156.3:c.645C>G, XM_005261156.3:c.645C>T, XM_005261156.2:c.258C>G, XM_005261156.2:c.258C>T, XM_005261156.1:c.258C>G, XM_005261156.1:c.258C>T, XM_011529635.3:c.387C>G, XM_011529635.3:c.387C>T, XM_011529635.2:c.387C>G, XM_011529635.2:c.387C>T, XM_011529635.1:c.387C>G, XM_011529635.1:c.387C>T, XM_011529630.3:c.387C>G, XM_011529630.3:c.387C>T, XM_011529630.2:c.387C>G, XM_011529630.2:c.387C>T, XM_011529630.1:c.387C>G, XM_011529630.1:c.387C>T, NM_058181.3:c.387C>G, NM_058181.3:c.387C>T, NM_058181.2:c.387C>G, NM_058181.2:c.387C>T, NM_058181.1:c.387C>G, NM_058181.1:c.387C>T, XM_011529633.3:c.387C>G, XM_011529633.3:c.387C>T, XM_011529633.2:c.387C>G, XM_011529633.2:c.387C>T, XM_011529633.1:c.387C>G, XM_011529633.1:c.387C>T, XM_011529629.3:c.387C>G, XM_011529629.3:c.387C>T, XM_011529629.2:c.387C>G, XM_011529629.2:c.387C>T, XM_011529629.1:c.387C>G, XM_011529629.1:c.387C>T, XM_011529634.3:c.258C>G, XM_011529634.3:c.258C>T, XM_011529634.2:c.645C>G, XM_011529634.2:c.645C>T, XM_011529634.1:c.258C>G, XM_011529634.1:c.258C>T, XM_011529631.3:c.387C>G, XM_011529631.3:c.387C>T, XM_011529631.2:c.387C>G, XM_011529631.2:c.387C>T, XM_011529631.1:c.387C>G, XM_011529631.1:c.387C>T, NM_001314022.2:c.258C>G, NM_001314022.2:c.258C>T, NM_001314022.1:c.258C>G, NM_001314022.1:c.258C>T, NM_001314025.2:c.387C>G, NM_001314025.2:c.387C>T, NM_001314025.1:c.387C>G, NM_001314025.1:c.387C>T, XM_017028394.2:c.258C>G, XM_017028394.2:c.258C>T, XM_017028394.1:c.645C>G, XM_017028394.1:c.645C>T, NM_001314023.2:c.252C>G, NM_001314023.2:c.252C>T, NM_001314023.1:c.252C>G, NM_001314023.1:c.252C>T, NM_001314024.2:c.123C>G, NM_001314024.2:c.123C>T, NM_001314024.1:c.123C>G, NM_001314024.1:c.123C>T, XM_047440898.1:c.387C>G, XM_047440898.1:c.387C>T, XM_047440900.1:c.258C>G, XM_047440900.1:c.258C>T, XM_047440899.1:c.258C>G, XM_047440899.1:c.258C>T, XM_047440901.1:c.387C>G, XM_047440901.1:c.387C>T, XM_047440902.1:c.387C>G, XM_047440902.1:c.387C>T, XM_047440903.1:c.258C>G, XM_047440903.1:c.258C>T, XM_047440897.1:c.387C>G, XM_047440897.1:c.387C>T

                    10.

                    rs1437054343 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->A [Show Flanks]
                      Chromosome:
                      21:46297547 (GRCh38)
                      21:47717462 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:46297547:AA:AAA
                      Gene:
                      YBEY (Varview)
                      Functional Consequence:
                      frameshift_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAA=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:

                      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.

                        rs1416799417 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          21:46297613 (GRCh38)
                          21:47717527 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:46297612:G:A
                          Gene:
                          YBEY (Varview)
                          Functional Consequence:
                          synonymous_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000035/1 (TOMMO)
                          HGVS:

                          13.

                          rs1409614373 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            21:46297596 (GRCh38)
                            21:47717510 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:46297595:C:T
                            Gene:
                            YBEY (Varview)
                            Functional Consequence:
                            synonymous_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000021/3 (GnomAD)
                            T=0.000023/6 (TOPMED)
                            HGVS:

                            14.

                            rs1402573419 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              21:46297611 (GRCh38)
                              21:47717525 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:46297610:C:T
                              Gene:
                              YBEY (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1397449614 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                21:46296163 (GRCh38)
                                21:47716077 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:46296162:T:A
                                Gene:
                                YBEY (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.000047/1 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000021.9:g.46296163T>A, NC_000021.8:g.47716077T>A, XM_005261156.5:c.212T>A, XM_005261156.4:c.599T>A, XM_005261156.3:c.599T>A, XM_005261156.2:c.212T>A, XM_005261156.1:c.212T>A, XM_011529635.3:c.341T>A, XM_011529635.2:c.341T>A, XM_011529635.1:c.341T>A, XM_011529630.3:c.341T>A, XM_011529630.2:c.341T>A, XM_011529630.1:c.341T>A, NM_058181.3:c.341T>A, NM_058181.2:c.341T>A, NM_058181.1:c.341T>A, XM_011529633.3:c.341T>A, XM_011529633.2:c.341T>A, XM_011529633.1:c.341T>A, XM_011529629.3:c.341T>A, XM_011529629.2:c.341T>A, XM_011529629.1:c.341T>A, XM_011529634.3:c.212T>A, XM_011529634.2:c.599T>A, XM_011529634.1:c.212T>A, XM_011529631.3:c.341T>A, XM_011529631.2:c.341T>A, XM_011529631.1:c.341T>A, NM_001314022.2:c.212T>A, NM_001314022.1:c.212T>A, NM_001314025.2:c.341T>A, NM_001314025.1:c.341T>A, XM_017028394.2:c.212T>A, XM_017028394.1:c.599T>A, NM_001314023.2:c.206T>A, NM_001314023.1:c.206T>A, NM_001314024.2:c.77T>A, NM_001314024.1:c.77T>A, XM_047440898.1:c.341T>A, XM_047440900.1:c.212T>A, XM_047440899.1:c.212T>A, XM_047440901.1:c.341T>A, XM_047440902.1:c.341T>A, XM_047440903.1:c.212T>A, XM_047440897.1:c.341T>A, XP_005261213.3:p.Val71Glu, XP_011527937.1:p.Val114Glu, XP_011527932.1:p.Val114Glu, NP_478061.1:p.Val114Glu, XP_011527935.1:p.Val114Glu, XP_011527931.1:p.Val114Glu, XP_011527936.3:p.Val71Glu, XP_011527933.1:p.Val114Glu, NP_001300951.1:p.Val71Glu, NP_001300954.1:p.Val114Glu, XP_016883883.2:p.Val71Glu, NP_001300952.1:p.Val69Glu, NP_001300953.1:p.Val26Glu, XP_047296854.1:p.Val114Glu, XP_047296856.1:p.Val71Glu, XP_047296855.1:p.Val71Glu, XP_047296857.1:p.Val114Glu, XP_047296858.1:p.Val114Glu, XP_047296859.1:p.Val71Glu, XP_047296853.1:p.Val114Glu

                                16.

                                rs1395493439 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  G>- [Show Flanks]
                                  Chromosome:
                                  21:46297612 (GRCh38)
                                  21:47717526 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:46297611:GGGG:GGG
                                  Gene:
                                  YBEY (Varview)
                                  Functional Consequence:
                                  frameshift_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                  HGVS:

                                  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.

                                    rs1384783557 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      21:46296173 (GRCh38)
                                      21:47716087 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:46296172:C:T
                                      Gene:
                                      YBEY (Varview)
                                      Functional Consequence:
                                      synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000021.9:g.46296173C>T, NC_000021.8:g.47716087C>T, XM_005261156.5:c.222C>T, XM_005261156.4:c.609C>T, XM_005261156.3:c.609C>T, XM_005261156.2:c.222C>T, XM_005261156.1:c.222C>T, XM_011529635.3:c.351C>T, XM_011529635.2:c.351C>T, XM_011529635.1:c.351C>T, XM_011529630.3:c.351C>T, XM_011529630.2:c.351C>T, XM_011529630.1:c.351C>T, NM_058181.3:c.351C>T, NM_058181.2:c.351C>T, NM_058181.1:c.351C>T, XM_011529633.3:c.351C>T, XM_011529633.2:c.351C>T, XM_011529633.1:c.351C>T, XM_011529629.3:c.351C>T, XM_011529629.2:c.351C>T, XM_011529629.1:c.351C>T, XM_011529634.3:c.222C>T, XM_011529634.2:c.609C>T, XM_011529634.1:c.222C>T, XM_011529631.3:c.351C>T, XM_011529631.2:c.351C>T, XM_011529631.1:c.351C>T, NM_001314022.2:c.222C>T, NM_001314022.1:c.222C>T, NM_001314025.2:c.351C>T, NM_001314025.1:c.351C>T, XM_017028394.2:c.222C>T, XM_017028394.1:c.609C>T, NM_001314023.2:c.216C>T, NM_001314023.1:c.216C>T, NM_001314024.2:c.87C>T, NM_001314024.1:c.87C>T, XM_047440898.1:c.351C>T, XM_047440900.1:c.222C>T, XM_047440899.1:c.222C>T, XM_047440901.1:c.351C>T, XM_047440902.1:c.351C>T, XM_047440903.1:c.222C>T, XM_047440897.1:c.351C>T

                                      19.

                                      rs1372533075 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        21:46297598 (GRCh38)
                                        21:47717512 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:46297597:G:A
                                        Gene:
                                        YBEY (Varview)
                                        Functional Consequence:
                                        synonymous_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000084/1 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000011/3 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1372067489 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,G,T [Show Flanks]
                                          Chromosome:
                                          21:46297568 (GRCh38)
                                          21:47717482 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:46297567:C:A,NC_000021.9:46297567:C:G,NC_000021.9:46297567:C:T
                                          Gene:
                                          YBEY (Varview)
                                          Functional Consequence:
                                          synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000021.9:g.46297568C>A, NC_000021.9:g.46297568C>G, NC_000021.9:g.46297568C>T, NC_000021.8:g.47717482C>A, NC_000021.8:g.47717482C>G, NC_000021.8:g.47717482C>T, XM_005261156.5:c.309C>A, XM_005261156.5:c.309C>G, XM_005261156.5:c.309C>T, XM_005261156.4:c.696C>A, XM_005261156.4:c.696C>G, XM_005261156.4:c.696C>T, XM_005261156.3:c.696C>A, XM_005261156.3:c.696C>G, XM_005261156.3:c.696C>T, XM_005261156.2:c.309C>A, XM_005261156.2:c.309C>G, XM_005261156.2:c.309C>T, XM_005261156.1:c.309C>A, XM_005261156.1:c.309C>G, XM_005261156.1:c.309C>T, NM_058181.3:c.438C>A, NM_058181.3:c.438C>G, NM_058181.3:c.438C>T, NM_058181.2:c.438C>A, NM_058181.2:c.438C>G, NM_058181.2:c.438C>T, NM_058181.1:c.438C>A, NM_058181.1:c.438C>G, NM_058181.1:c.438C>T, NM_001314022.2:c.309C>A, NM_001314022.2:c.309C>G, NM_001314022.2:c.309C>T, NM_001314022.1:c.309C>A, NM_001314022.1:c.309C>G, NM_001314022.1:c.309C>T, NM_001314025.2:c.438C>A, NM_001314025.2:c.438C>G, NM_001314025.2:c.438C>T, NM_001314025.1:c.438C>A, NM_001314025.1:c.438C>G, NM_001314025.1:c.438C>T, NM_001314023.2:c.303C>A, NM_001314023.2:c.303C>G, NM_001314023.2:c.303C>T, NM_001314023.1:c.303C>A, NM_001314023.1:c.303C>G, NM_001314023.1:c.303C>T, NM_001314024.2:c.174C>A, NM_001314024.2:c.174C>G, NM_001314024.2:c.174C>T, NM_001314024.1:c.174C>A, NM_001314024.1:c.174C>G, NM_001314024.1:c.174C>T, XM_047440902.1:c.438C>A, XM_047440902.1:c.438C>G, XM_047440902.1:c.438C>T, XM_047440903.1:c.309C>A, XM_047440903.1:c.309C>G, XM_047440903.1:c.309C>T, XP_005261213.3:p.Asp103Glu, XP_005261213.3:p.Asp103Glu, NP_478061.1:p.Asp146Glu, NP_478061.1:p.Asp146Glu, NP_001300951.1:p.Asp103Glu, NP_001300951.1:p.Asp103Glu, NP_001300954.1:p.Asp146Glu, NP_001300954.1:p.Asp146Glu, NP_001300952.1:p.Asp101Glu, NP_001300952.1:p.Asp101Glu, NP_001300953.1:p.Asp58Glu, NP_001300953.1:p.Asp58Glu, XP_047296858.1:p.Asp146Glu, XP_047296858.1:p.Asp146Glu, XP_047296859.1:p.Asp103Glu, XP_047296859.1:p.Asp103Glu

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