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Items: 1 to 20 of 407

1.

rs1489952866 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    2:190659682 (GRCh38)
    2:191524408 (GRCh37)
    Canonical SPDI:
    NC_000002.12:190659681:G:A
    Gene:
    NAB1 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000002.12:g.190659682G>A, NC_000002.11:g.191524408G>A, NM_005966.4:c.506G>A, NM_005966.3:c.506G>A, XM_011511219.4:c.506G>A, XM_011511219.3:c.506G>A, XM_011511219.2:c.506G>A, XM_011511219.1:c.506G>A, XM_017004172.3:c.506G>A, XM_017004172.2:c.506G>A, XM_017004172.1:c.506G>A, XM_017004175.3:c.506G>A, XM_017004175.2:c.506G>A, XM_017004175.1:c.506G>A, XM_005246583.2:c.506G>A, XM_005246583.1:c.506G>A, XM_024452917.2:c.506G>A, XM_024452917.1:c.506G>A, XM_017004173.2:c.506G>A, XM_017004173.1:c.506G>A, XM_017004176.2:c.506G>A, XM_017004176.1:c.506G>A, NM_001321312.2:c.506G>A, NM_001321312.1:c.506G>A, XM_005246582.2:c.506G>A, XM_005246582.1:c.506G>A, XM_017004170.2:c.506G>A, XM_017004170.1:c.506G>A, XM_047444442.1:c.506G>A, XM_047444452.1:c.506G>A, XM_047444451.1:c.506G>A, XM_047444468.1:c.506G>A, XM_047444453.1:c.506G>A, XM_047444454.1:c.506G>A, XM_047444456.1:c.506G>A, XM_047444467.1:c.506G>A, XM_047444443.1:c.506G>A, XM_047444457.1:c.506G>A, XM_047444469.1:c.506G>A, XM_047444476.1:c.506G>A, XM_047444460.1:c.506G>A, XM_047444448.1:c.506G>A, XM_047444461.1:c.506G>A, XM_047444447.1:c.506G>A, XM_047444444.1:c.506G>A, XM_047444446.1:c.506G>A, XM_047444459.1:c.506G>A, XM_047444445.1:c.506G>A, XM_047444458.1:c.506G>A, XM_047444470.1:c.506G>A, XM_047444471.1:c.506G>A, XM_047444466.1:c.506G>A, XM_047444472.1:c.506G>A, XM_047444465.1:c.506G>A, XM_047444450.1:c.506G>A, XM_047444449.1:c.506G>A, XM_047444462.1:c.506G>A, XM_047444464.1:c.506G>A, XM_047444473.1:c.506G>A, XM_047444474.1:c.506G>A, NM_001321313.1:c.506G>A, XM_017004174.1:c.506G>A, NM_001321314.1:c.506G>A, XM_047444475.1:c.506G>A, NM_001321315.1:c.506G>A, NP_005957.2:p.Ser169Asn, XP_011509521.1:p.Ser169Asn, XP_016859661.1:p.Ser169Asn, XP_016859664.1:p.Ser169Asn, XP_005246640.1:p.Ser169Asn, XP_024308685.1:p.Ser169Asn, XP_016859662.1:p.Ser169Asn, XP_016859665.1:p.Ser169Asn, NP_001308241.1:p.Ser169Asn, XP_005246639.1:p.Ser169Asn, XP_016859659.1:p.Ser169Asn, XP_047300398.1:p.Ser169Asn, XP_047300408.1:p.Ser169Asn, XP_047300407.1:p.Ser169Asn, XP_047300424.1:p.Ser169Asn, XP_047300409.1:p.Ser169Asn, XP_047300410.1:p.Ser169Asn, XP_047300412.1:p.Ser169Asn, XP_047300423.1:p.Ser169Asn, XP_047300399.1:p.Ser169Asn, XP_047300413.1:p.Ser169Asn, XP_047300425.1:p.Ser169Asn, XP_047300432.1:p.Ser169Asn, XP_047300416.1:p.Ser169Asn, XP_047300404.1:p.Ser169Asn, XP_047300417.1:p.Ser169Asn, XP_047300403.1:p.Ser169Asn, XP_047300400.1:p.Ser169Asn, XP_047300402.1:p.Ser169Asn, XP_047300415.1:p.Ser169Asn, XP_047300401.1:p.Ser169Asn, XP_047300414.1:p.Ser169Asn, XP_047300426.1:p.Ser169Asn, XP_047300427.1:p.Ser169Asn, XP_047300422.1:p.Ser169Asn, XP_047300428.1:p.Ser169Asn, XP_047300421.1:p.Ser169Asn, XP_047300406.1:p.Ser169Asn, XP_047300405.1:p.Ser169Asn, XP_047300418.1:p.Ser169Asn, XP_047300420.1:p.Ser169Asn, XP_047300429.1:p.Ser169Asn, XP_047300430.1:p.Ser169Asn, NP_001308242.1:p.Ser169Asn, XP_016859663.1:p.Ser169Asn, NP_001308243.1:p.Ser169Asn, XP_047300431.1:p.Ser169Asn, NP_001308244.1:p.Ser169Asn

    2.

    rs1489531986 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      2:190659697 (GRCh38)
      2:191524423 (GRCh37)
      Canonical SPDI:
      NC_000002.12:190659696:C:T
      Gene:
      NAB1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000008/2 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.190659697C>T, NC_000002.11:g.191524423C>T, NM_005966.4:c.521C>T, NM_005966.3:c.521C>T, XM_011511219.4:c.521C>T, XM_011511219.3:c.521C>T, XM_011511219.2:c.521C>T, XM_011511219.1:c.521C>T, XM_017004172.3:c.521C>T, XM_017004172.2:c.521C>T, XM_017004172.1:c.521C>T, XM_017004175.3:c.521C>T, XM_017004175.2:c.521C>T, XM_017004175.1:c.521C>T, XM_005246583.2:c.521C>T, XM_005246583.1:c.521C>T, XM_024452917.2:c.521C>T, XM_024452917.1:c.521C>T, XM_017004173.2:c.521C>T, XM_017004173.1:c.521C>T, XM_017004176.2:c.521C>T, XM_017004176.1:c.521C>T, NM_001321312.2:c.521C>T, NM_001321312.1:c.521C>T, XM_005246582.2:c.521C>T, XM_005246582.1:c.521C>T, XM_017004170.2:c.521C>T, XM_017004170.1:c.521C>T, XM_047444442.1:c.521C>T, XM_047444452.1:c.521C>T, XM_047444451.1:c.521C>T, XM_047444468.1:c.521C>T, XM_047444453.1:c.521C>T, XM_047444454.1:c.521C>T, XM_047444456.1:c.521C>T, XM_047444467.1:c.521C>T, XM_047444443.1:c.521C>T, XM_047444457.1:c.521C>T, XM_047444469.1:c.521C>T, XM_047444476.1:c.521C>T, XM_047444460.1:c.521C>T, XM_047444448.1:c.521C>T, XM_047444461.1:c.521C>T, XM_047444447.1:c.521C>T, XM_047444444.1:c.521C>T, XM_047444446.1:c.521C>T, XM_047444459.1:c.521C>T, XM_047444445.1:c.521C>T, XM_047444458.1:c.521C>T, XM_047444470.1:c.521C>T, XM_047444471.1:c.521C>T, XM_047444466.1:c.521C>T, XM_047444472.1:c.521C>T, XM_047444465.1:c.521C>T, XM_047444450.1:c.521C>T, XM_047444449.1:c.521C>T, XM_047444462.1:c.521C>T, XM_047444464.1:c.521C>T, XM_047444473.1:c.521C>T, XM_047444474.1:c.521C>T, NM_001321313.1:c.521C>T, XM_017004174.1:c.521C>T, NM_001321314.1:c.521C>T, XM_047444475.1:c.521C>T, NM_001321315.1:c.521C>T, NP_005957.2:p.Ser174Phe, XP_011509521.1:p.Ser174Phe, XP_016859661.1:p.Ser174Phe, XP_016859664.1:p.Ser174Phe, XP_005246640.1:p.Ser174Phe, XP_024308685.1:p.Ser174Phe, XP_016859662.1:p.Ser174Phe, XP_016859665.1:p.Ser174Phe, NP_001308241.1:p.Ser174Phe, XP_005246639.1:p.Ser174Phe, XP_016859659.1:p.Ser174Phe, XP_047300398.1:p.Ser174Phe, XP_047300408.1:p.Ser174Phe, XP_047300407.1:p.Ser174Phe, XP_047300424.1:p.Ser174Phe, XP_047300409.1:p.Ser174Phe, XP_047300410.1:p.Ser174Phe, XP_047300412.1:p.Ser174Phe, XP_047300423.1:p.Ser174Phe, XP_047300399.1:p.Ser174Phe, XP_047300413.1:p.Ser174Phe, XP_047300425.1:p.Ser174Phe, XP_047300432.1:p.Ser174Phe, XP_047300416.1:p.Ser174Phe, XP_047300404.1:p.Ser174Phe, XP_047300417.1:p.Ser174Phe, XP_047300403.1:p.Ser174Phe, XP_047300400.1:p.Ser174Phe, XP_047300402.1:p.Ser174Phe, XP_047300415.1:p.Ser174Phe, XP_047300401.1:p.Ser174Phe, XP_047300414.1:p.Ser174Phe, XP_047300426.1:p.Ser174Phe, XP_047300427.1:p.Ser174Phe, XP_047300422.1:p.Ser174Phe, XP_047300428.1:p.Ser174Phe, XP_047300421.1:p.Ser174Phe, XP_047300406.1:p.Ser174Phe, XP_047300405.1:p.Ser174Phe, XP_047300418.1:p.Ser174Phe, XP_047300420.1:p.Ser174Phe, XP_047300429.1:p.Ser174Phe, XP_047300430.1:p.Ser174Phe, NP_001308242.1:p.Ser174Phe, XP_016859663.1:p.Ser174Phe, NP_001308243.1:p.Ser174Phe, XP_047300431.1:p.Ser174Phe, NP_001308244.1:p.Ser174Phe

      3.

      rs1481969779 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        2:190659347 (GRCh38)
        2:191524073 (GRCh37)
        Canonical SPDI:
        NC_000002.12:190659346:C:T
        Gene:
        NAB1 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000002.12:g.190659347C>T, NC_000002.11:g.191524073C>T, NM_005966.4:c.171C>T, NM_005966.3:c.171C>T, XM_011511219.4:c.171C>T, XM_011511219.3:c.171C>T, XM_011511219.2:c.171C>T, XM_011511219.1:c.171C>T, XM_017004172.3:c.171C>T, XM_017004172.2:c.171C>T, XM_017004172.1:c.171C>T, XM_017004175.3:c.171C>T, XM_017004175.2:c.171C>T, XM_017004175.1:c.171C>T, XM_005246583.2:c.171C>T, XM_005246583.1:c.171C>T, XM_024452917.2:c.171C>T, XM_024452917.1:c.171C>T, XM_017004173.2:c.171C>T, XM_017004173.1:c.171C>T, XM_017004176.2:c.171C>T, XM_017004176.1:c.171C>T, NM_001321312.2:c.171C>T, NM_001321312.1:c.171C>T, XM_005246582.2:c.171C>T, XM_005246582.1:c.171C>T, XM_017004170.2:c.171C>T, XM_017004170.1:c.171C>T, XM_047444442.1:c.171C>T, XM_047444452.1:c.171C>T, XM_047444451.1:c.171C>T, XM_047444468.1:c.171C>T, XM_047444453.1:c.171C>T, XM_047444454.1:c.171C>T, XM_047444456.1:c.171C>T, XM_047444467.1:c.171C>T, XM_047444443.1:c.171C>T, XM_047444457.1:c.171C>T, XM_047444469.1:c.171C>T, XM_047444476.1:c.171C>T, XM_047444460.1:c.171C>T, XM_047444448.1:c.171C>T, XM_047444461.1:c.171C>T, XM_047444447.1:c.171C>T, XM_047444444.1:c.171C>T, XM_047444446.1:c.171C>T, XM_047444459.1:c.171C>T, XM_047444445.1:c.171C>T, XM_047444458.1:c.171C>T, XM_047444470.1:c.171C>T, XM_047444471.1:c.171C>T, XM_047444466.1:c.171C>T, XM_047444472.1:c.171C>T, XM_047444465.1:c.171C>T, XM_047444450.1:c.171C>T, XM_047444449.1:c.171C>T, XM_047444462.1:c.171C>T, XM_047444464.1:c.171C>T, XM_047444473.1:c.171C>T, XM_047444474.1:c.171C>T, NM_001321313.1:c.171C>T, XM_017004174.1:c.171C>T, NM_001321314.1:c.171C>T, XM_047444475.1:c.171C>T, NM_001321315.1:c.171C>T

        4.

        rs1481144465 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          2:190685514 (GRCh38)
          2:191550240 (GRCh37)
          Canonical SPDI:
          NC_000002.12:190685513:T:C
          Gene:
          NAB1 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000142/2 (ALFA)
          C=0.000007/1 (GnomAD)
          C=0.000008/2 (GnomAD_exomes)
          C=0.000008/2 (TOPMED)
          HGVS:
          NC_000002.12:g.190685514T>C, NC_000002.11:g.191550240T>C, NM_005966.4:c.1134T>C, NM_005966.3:c.1134T>C, XM_011511219.4:c.1134T>C, XM_011511219.3:c.1134T>C, XM_011511219.2:c.1134T>C, XM_011511219.1:c.1134T>C, XM_017004172.3:c.1131T>C, XM_017004172.2:c.1131T>C, XM_017004172.1:c.1131T>C, XM_017004175.3:c.1044T>C, XM_017004175.2:c.1044T>C, XM_017004175.1:c.1044T>C, XM_005246583.2:c.1134T>C, XM_005246583.1:c.1134T>C, XM_024452917.2:c.1134T>C, XM_024452917.1:c.1134T>C, XM_017004173.2:c.1131T>C, XM_017004173.1:c.1131T>C, XM_017004176.2:c.1134T>C, XM_017004176.1:c.1134T>C, NM_001321312.2:c.1134T>C, NM_001321312.1:c.1134T>C, XM_005246582.2:c.1134T>C, XM_005246582.1:c.1134T>C, XM_017004170.2:c.1134T>C, XM_017004170.1:c.1134T>C, XM_047444442.1:c.1134T>C, XM_047444452.1:c.1134T>C, XM_047444451.1:c.1134T>C, XM_047444468.1:c.1044T>C, XM_047444453.1:c.1134T>C, XM_047444454.1:c.1134T>C, XM_047444456.1:c.1134T>C, XM_047444467.1:c.1044T>C, XM_047444443.1:c.1134T>C, XM_047444457.1:c.1131T>C, XM_047444469.1:c.1044T>C, XM_047444476.1:c.1044T>C, XM_047444460.1:c.1131T>C, XM_047444448.1:c.1134T>C, XM_047444461.1:c.1131T>C, XM_047444447.1:c.1134T>C, XM_047444444.1:c.1134T>C, XM_047444446.1:c.1134T>C, XM_047444459.1:c.1131T>C, XM_047444445.1:c.1134T>C, XM_047444458.1:c.1131T>C, XM_047444470.1:c.1044T>C, XM_047444471.1:c.1044T>C, XM_047444466.1:c.1131T>C, XM_047444472.1:c.1044T>C, XM_047444465.1:c.1131T>C, XM_047444450.1:c.1134T>C, XM_047444449.1:c.1134T>C, XM_047444462.1:c.1131T>C, XM_047444464.1:c.1131T>C, XM_047444473.1:c.1044T>C, XM_047444474.1:c.1044T>C, NM_001321313.1:c.1134T>C, XM_017004174.1:c.1131T>C, NM_001321314.1:c.1131T>C, XM_047444475.1:c.1044T>C, NM_001321315.1:c.1044T>C

          5.

          rs1476478814 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            2:190690287 (GRCh38)
            2:191555013 (GRCh37)
            Canonical SPDI:
            NC_000002.12:190690286:C:T
            Gene:
            NAB1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000031/1 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000016/4 (GnomAD_exomes)
            HGVS:
            NC_000002.12:g.190690287C>T, NC_000002.11:g.191555013C>T, NM_005966.4:c.1418C>T, NM_005966.3:c.1418C>T, XM_011511219.4:c.1418C>T, XM_011511219.3:c.1418C>T, XM_011511219.2:c.1418C>T, XM_011511219.1:c.1418C>T, XM_017004172.3:c.1415C>T, XM_017004172.2:c.1415C>T, XM_017004172.1:c.1415C>T, XM_017004175.3:c.1328C>T, XM_017004175.2:c.1328C>T, XM_017004175.1:c.1328C>T, XM_005246583.2:c.1418C>T, XM_005246583.1:c.1418C>T, XM_024452917.2:c.1418C>T, XM_024452917.1:c.1418C>T, XM_017004173.2:c.1415C>T, XM_017004173.1:c.1415C>T, XM_017004176.2:c.1418C>T, XM_017004176.1:c.1418C>T, NM_001321312.2:c.1418C>T, NM_001321312.1:c.1418C>T, XM_005246582.2:c.1418C>T, XM_005246582.1:c.1418C>T, XM_017004170.2:c.1418C>T, XM_017004170.1:c.1418C>T, XM_047444442.1:c.1418C>T, XM_047444452.1:c.1418C>T, XM_047444451.1:c.1418C>T, XM_047444468.1:c.1328C>T, XM_047444453.1:c.1418C>T, XM_047444454.1:c.1418C>T, XM_047444456.1:c.1418C>T, XM_047444467.1:c.1328C>T, XM_047444443.1:c.1418C>T, XM_047444457.1:c.1415C>T, XM_047444469.1:c.1328C>T, XM_047444476.1:c.1328C>T, XM_047444460.1:c.1415C>T, XM_047444448.1:c.1418C>T, XM_047444461.1:c.1415C>T, XM_047444447.1:c.1418C>T, XM_047444444.1:c.1418C>T, XM_047444446.1:c.1418C>T, XM_047444459.1:c.1415C>T, XM_047444445.1:c.1418C>T, XM_047444458.1:c.1415C>T, XM_047444470.1:c.1328C>T, XM_047444471.1:c.1328C>T, XM_047444466.1:c.1415C>T, XM_047444472.1:c.1328C>T, XM_047444465.1:c.1415C>T, XM_047444450.1:c.1418C>T, XM_047444449.1:c.1418C>T, XM_047444462.1:c.1415C>T, XM_047444464.1:c.1415C>T, XM_047444473.1:c.1328C>T, XM_047444474.1:c.1328C>T, NM_001321313.1:c.1418C>T, XM_017004174.1:c.1415C>T, NM_001321314.1:c.1415C>T, XM_047444475.1:c.1328C>T, NM_001321315.1:c.1328C>T, NP_005957.2:p.Thr473Ile, XP_011509521.1:p.Thr473Ile, XP_016859661.1:p.Thr472Ile, XP_016859664.1:p.Thr443Ile, XP_005246640.1:p.Thr473Ile, XP_024308685.1:p.Thr473Ile, XP_016859662.1:p.Thr472Ile, XP_016859665.1:p.Thr473Ile, NP_001308241.1:p.Thr473Ile, XP_005246639.1:p.Thr473Ile, XP_016859659.1:p.Thr473Ile, XP_047300398.1:p.Thr473Ile, XP_047300408.1:p.Thr473Ile, XP_047300407.1:p.Thr473Ile, XP_047300424.1:p.Thr443Ile, XP_047300409.1:p.Thr473Ile, XP_047300410.1:p.Thr473Ile, XP_047300412.1:p.Thr473Ile, XP_047300423.1:p.Thr443Ile, XP_047300399.1:p.Thr473Ile, XP_047300413.1:p.Thr472Ile, XP_047300425.1:p.Thr443Ile, XP_047300432.1:p.Thr443Ile, XP_047300416.1:p.Thr472Ile, XP_047300404.1:p.Thr473Ile, XP_047300417.1:p.Thr472Ile, XP_047300403.1:p.Thr473Ile, XP_047300400.1:p.Thr473Ile, XP_047300402.1:p.Thr473Ile, XP_047300415.1:p.Thr472Ile, XP_047300401.1:p.Thr473Ile, XP_047300414.1:p.Thr472Ile, XP_047300426.1:p.Thr443Ile, XP_047300427.1:p.Thr443Ile, XP_047300422.1:p.Thr472Ile, XP_047300428.1:p.Thr443Ile, XP_047300421.1:p.Thr472Ile, XP_047300406.1:p.Thr473Ile, XP_047300405.1:p.Thr473Ile, XP_047300418.1:p.Thr472Ile, XP_047300420.1:p.Thr472Ile, XP_047300429.1:p.Thr443Ile, XP_047300430.1:p.Thr443Ile, NP_001308242.1:p.Thr473Ile, XP_016859663.1:p.Thr472Ile, NP_001308243.1:p.Thr472Ile, XP_047300431.1:p.Thr443Ile, NP_001308244.1:p.Thr443Ile

            6.

            rs1473477253 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              2:190687241 (GRCh38)
              2:191551967 (GRCh37)
              Canonical SPDI:
              NC_000002.12:190687240:C:T
              Gene:
              NAB1 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000008/2 (TOPMED)
              HGVS:
              NC_000002.12:g.190687241C>T, NC_000002.11:g.191551967C>T, NM_005966.4:c.1299C>T, NM_005966.3:c.1299C>T, XM_011511219.4:c.1299C>T, XM_011511219.3:c.1299C>T, XM_011511219.2:c.1299C>T, XM_011511219.1:c.1299C>T, XM_017004172.3:c.1296C>T, XM_017004172.2:c.1296C>T, XM_017004172.1:c.1296C>T, XM_017004175.3:c.1209C>T, XM_017004175.2:c.1209C>T, XM_017004175.1:c.1209C>T, XM_005246583.2:c.1299C>T, XM_005246583.1:c.1299C>T, XM_024452917.2:c.1299C>T, XM_024452917.1:c.1299C>T, XM_017004173.2:c.1296C>T, XM_017004173.1:c.1296C>T, XM_017004176.2:c.1299C>T, XM_017004176.1:c.1299C>T, NM_001321312.2:c.1299C>T, NM_001321312.1:c.1299C>T, XM_005246582.2:c.1299C>T, XM_005246582.1:c.1299C>T, XM_017004170.2:c.1299C>T, XM_017004170.1:c.1299C>T, XM_047444442.1:c.1299C>T, XM_047444452.1:c.1299C>T, XM_047444451.1:c.1299C>T, XM_047444468.1:c.1209C>T, XM_047444453.1:c.1299C>T, XM_047444454.1:c.1299C>T, XM_047444456.1:c.1299C>T, XM_047444467.1:c.1209C>T, XM_047444443.1:c.1299C>T, XM_047444457.1:c.1296C>T, XM_047444469.1:c.1209C>T, XM_047444476.1:c.1209C>T, XM_047444460.1:c.1296C>T, XM_047444448.1:c.1299C>T, XM_047444461.1:c.1296C>T, XM_047444447.1:c.1299C>T, XM_047444444.1:c.1299C>T, XM_047444446.1:c.1299C>T, XM_047444459.1:c.1296C>T, XM_047444445.1:c.1299C>T, XM_047444458.1:c.1296C>T, XM_047444470.1:c.1209C>T, XM_047444471.1:c.1209C>T, XM_047444466.1:c.1296C>T, XM_047444472.1:c.1209C>T, XM_047444465.1:c.1296C>T, XM_047444450.1:c.1299C>T, XM_047444449.1:c.1299C>T, XM_047444462.1:c.1296C>T, XM_047444464.1:c.1296C>T, XM_047444473.1:c.1209C>T, XM_047444474.1:c.1209C>T, NM_001321313.1:c.1299C>T, XM_017004174.1:c.1296C>T, NM_001321314.1:c.1296C>T, XM_047444475.1:c.1209C>T, NM_001321315.1:c.1209C>T

              7.

              rs1473283573 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                2:190659711 (GRCh38)
                2:191524437 (GRCh37)
                Canonical SPDI:
                NC_000002.12:190659710:G:A
                Gene:
                NAB1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000002.12:g.190659711G>A, NC_000002.11:g.191524437G>A, NM_005966.4:c.535G>A, NM_005966.3:c.535G>A, XM_011511219.4:c.535G>A, XM_011511219.3:c.535G>A, XM_011511219.2:c.535G>A, XM_011511219.1:c.535G>A, XM_017004172.3:c.535G>A, XM_017004172.2:c.535G>A, XM_017004172.1:c.535G>A, XM_017004175.3:c.535G>A, XM_017004175.2:c.535G>A, XM_017004175.1:c.535G>A, XM_005246583.2:c.535G>A, XM_005246583.1:c.535G>A, XM_024452917.2:c.535G>A, XM_024452917.1:c.535G>A, XM_017004173.2:c.535G>A, XM_017004173.1:c.535G>A, XM_017004176.2:c.535G>A, XM_017004176.1:c.535G>A, NM_001321312.2:c.535G>A, NM_001321312.1:c.535G>A, XM_005246582.2:c.535G>A, XM_005246582.1:c.535G>A, XM_017004170.2:c.535G>A, XM_017004170.1:c.535G>A, XM_047444442.1:c.535G>A, XM_047444452.1:c.535G>A, XM_047444451.1:c.535G>A, XM_047444468.1:c.535G>A, XM_047444453.1:c.535G>A, XM_047444454.1:c.535G>A, XM_047444456.1:c.535G>A, XM_047444467.1:c.535G>A, XM_047444443.1:c.535G>A, XM_047444457.1:c.535G>A, XM_047444469.1:c.535G>A, XM_047444476.1:c.535G>A, XM_047444460.1:c.535G>A, XM_047444448.1:c.535G>A, XM_047444461.1:c.535G>A, XM_047444447.1:c.535G>A, XM_047444444.1:c.535G>A, XM_047444446.1:c.535G>A, XM_047444459.1:c.535G>A, XM_047444445.1:c.535G>A, XM_047444458.1:c.535G>A, XM_047444470.1:c.535G>A, XM_047444471.1:c.535G>A, XM_047444466.1:c.535G>A, XM_047444472.1:c.535G>A, XM_047444465.1:c.535G>A, XM_047444450.1:c.535G>A, XM_047444449.1:c.535G>A, XM_047444462.1:c.535G>A, XM_047444464.1:c.535G>A, XM_047444473.1:c.535G>A, XM_047444474.1:c.535G>A, NM_001321313.1:c.535G>A, XM_017004174.1:c.535G>A, NM_001321314.1:c.535G>A, XM_047444475.1:c.535G>A, NM_001321315.1:c.535G>A, NP_005957.2:p.Gly179Ser, XP_011509521.1:p.Gly179Ser, XP_016859661.1:p.Gly179Ser, XP_016859664.1:p.Gly179Ser, XP_005246640.1:p.Gly179Ser, XP_024308685.1:p.Gly179Ser, XP_016859662.1:p.Gly179Ser, XP_016859665.1:p.Gly179Ser, NP_001308241.1:p.Gly179Ser, XP_005246639.1:p.Gly179Ser, XP_016859659.1:p.Gly179Ser, XP_047300398.1:p.Gly179Ser, XP_047300408.1:p.Gly179Ser, XP_047300407.1:p.Gly179Ser, XP_047300424.1:p.Gly179Ser, XP_047300409.1:p.Gly179Ser, XP_047300410.1:p.Gly179Ser, XP_047300412.1:p.Gly179Ser, XP_047300423.1:p.Gly179Ser, XP_047300399.1:p.Gly179Ser, XP_047300413.1:p.Gly179Ser, XP_047300425.1:p.Gly179Ser, XP_047300432.1:p.Gly179Ser, XP_047300416.1:p.Gly179Ser, XP_047300404.1:p.Gly179Ser, XP_047300417.1:p.Gly179Ser, XP_047300403.1:p.Gly179Ser, XP_047300400.1:p.Gly179Ser, XP_047300402.1:p.Gly179Ser, XP_047300415.1:p.Gly179Ser, XP_047300401.1:p.Gly179Ser, XP_047300414.1:p.Gly179Ser, XP_047300426.1:p.Gly179Ser, XP_047300427.1:p.Gly179Ser, XP_047300422.1:p.Gly179Ser, XP_047300428.1:p.Gly179Ser, XP_047300421.1:p.Gly179Ser, XP_047300406.1:p.Gly179Ser, XP_047300405.1:p.Gly179Ser, XP_047300418.1:p.Gly179Ser, XP_047300420.1:p.Gly179Ser, XP_047300429.1:p.Gly179Ser, XP_047300430.1:p.Gly179Ser, NP_001308242.1:p.Gly179Ser, XP_016859663.1:p.Gly179Ser, NP_001308243.1:p.Gly179Ser, XP_047300431.1:p.Gly179Ser, NP_001308244.1:p.Gly179Ser

                8.

                rs1466810197 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  2:190659806 (GRCh38)
                  2:191524532 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:190659805:G:T
                  Gene:
                  NAB1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000002.12:g.190659806G>T, NC_000002.11:g.191524532G>T, NM_005966.4:c.630G>T, NM_005966.3:c.630G>T, XM_011511219.4:c.630G>T, XM_011511219.3:c.630G>T, XM_011511219.2:c.630G>T, XM_011511219.1:c.630G>T, XM_017004172.3:c.630G>T, XM_017004172.2:c.630G>T, XM_017004172.1:c.630G>T, XM_017004175.3:c.630G>T, XM_017004175.2:c.630G>T, XM_017004175.1:c.630G>T, XM_005246583.2:c.630G>T, XM_005246583.1:c.630G>T, XM_024452917.2:c.630G>T, XM_024452917.1:c.630G>T, XM_017004173.2:c.630G>T, XM_017004173.1:c.630G>T, XM_017004176.2:c.630G>T, XM_017004176.1:c.630G>T, NM_001321312.2:c.630G>T, NM_001321312.1:c.630G>T, XM_005246582.2:c.630G>T, XM_005246582.1:c.630G>T, XM_017004170.2:c.630G>T, XM_017004170.1:c.630G>T, XM_047444442.1:c.630G>T, XM_047444452.1:c.630G>T, XM_047444451.1:c.630G>T, XM_047444468.1:c.630G>T, XM_047444453.1:c.630G>T, XM_047444454.1:c.630G>T, XM_047444456.1:c.630G>T, XM_047444467.1:c.630G>T, XM_047444443.1:c.630G>T, XM_047444457.1:c.630G>T, XM_047444469.1:c.630G>T, XM_047444476.1:c.630G>T, XM_047444460.1:c.630G>T, XM_047444448.1:c.630G>T, XM_047444461.1:c.630G>T, XM_047444447.1:c.630G>T, XM_047444444.1:c.630G>T, XM_047444446.1:c.630G>T, XM_047444459.1:c.630G>T, XM_047444445.1:c.630G>T, XM_047444458.1:c.630G>T, XM_047444470.1:c.630G>T, XM_047444471.1:c.630G>T, XM_047444466.1:c.630G>T, XM_047444472.1:c.630G>T, XM_047444465.1:c.630G>T, XM_047444450.1:c.630G>T, XM_047444449.1:c.630G>T, XM_047444462.1:c.630G>T, XM_047444464.1:c.630G>T, XM_047444473.1:c.630G>T, XM_047444474.1:c.630G>T, NM_001321313.1:c.630G>T, XM_017004174.1:c.630G>T, NM_001321314.1:c.630G>T, XM_047444475.1:c.630G>T, NM_001321315.1:c.630G>T

                  9.

                  rs1465241971 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    2:190690281 (GRCh38)
                    2:191555007 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:190690280:C:T
                    Gene:
                    NAB1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000021/3 (GnomAD)
                    HGVS:
                    NC_000002.12:g.190690281C>T, NC_000002.11:g.191555007C>T, NM_005966.4:c.1412C>T, NM_005966.3:c.1412C>T, XM_011511219.4:c.1412C>T, XM_011511219.3:c.1412C>T, XM_011511219.2:c.1412C>T, XM_011511219.1:c.1412C>T, XM_017004172.3:c.1409C>T, XM_017004172.2:c.1409C>T, XM_017004172.1:c.1409C>T, XM_017004175.3:c.1322C>T, XM_017004175.2:c.1322C>T, XM_017004175.1:c.1322C>T, XM_005246583.2:c.1412C>T, XM_005246583.1:c.1412C>T, XM_024452917.2:c.1412C>T, XM_024452917.1:c.1412C>T, XM_017004173.2:c.1409C>T, XM_017004173.1:c.1409C>T, XM_017004176.2:c.1412C>T, XM_017004176.1:c.1412C>T, NM_001321312.2:c.1412C>T, NM_001321312.1:c.1412C>T, XM_005246582.2:c.1412C>T, XM_005246582.1:c.1412C>T, XM_017004170.2:c.1412C>T, XM_017004170.1:c.1412C>T, XM_047444442.1:c.1412C>T, XM_047444452.1:c.1412C>T, XM_047444451.1:c.1412C>T, XM_047444468.1:c.1322C>T, XM_047444453.1:c.1412C>T, XM_047444454.1:c.1412C>T, XM_047444456.1:c.1412C>T, XM_047444467.1:c.1322C>T, XM_047444443.1:c.1412C>T, XM_047444457.1:c.1409C>T, XM_047444469.1:c.1322C>T, XM_047444476.1:c.1322C>T, XM_047444460.1:c.1409C>T, XM_047444448.1:c.1412C>T, XM_047444461.1:c.1409C>T, XM_047444447.1:c.1412C>T, XM_047444444.1:c.1412C>T, XM_047444446.1:c.1412C>T, XM_047444459.1:c.1409C>T, XM_047444445.1:c.1412C>T, XM_047444458.1:c.1409C>T, XM_047444470.1:c.1322C>T, XM_047444471.1:c.1322C>T, XM_047444466.1:c.1409C>T, XM_047444472.1:c.1322C>T, XM_047444465.1:c.1409C>T, XM_047444450.1:c.1412C>T, XM_047444449.1:c.1412C>T, XM_047444462.1:c.1409C>T, XM_047444464.1:c.1409C>T, XM_047444473.1:c.1322C>T, XM_047444474.1:c.1322C>T, NM_001321313.1:c.1412C>T, XM_017004174.1:c.1409C>T, NM_001321314.1:c.1409C>T, XM_047444475.1:c.1322C>T, NM_001321315.1:c.1322C>T, NP_005957.2:p.Ala471Val, XP_011509521.1:p.Ala471Val, XP_016859661.1:p.Ala470Val, XP_016859664.1:p.Ala441Val, XP_005246640.1:p.Ala471Val, XP_024308685.1:p.Ala471Val, XP_016859662.1:p.Ala470Val, XP_016859665.1:p.Ala471Val, NP_001308241.1:p.Ala471Val, XP_005246639.1:p.Ala471Val, XP_016859659.1:p.Ala471Val, XP_047300398.1:p.Ala471Val, XP_047300408.1:p.Ala471Val, XP_047300407.1:p.Ala471Val, XP_047300424.1:p.Ala441Val, XP_047300409.1:p.Ala471Val, XP_047300410.1:p.Ala471Val, XP_047300412.1:p.Ala471Val, XP_047300423.1:p.Ala441Val, XP_047300399.1:p.Ala471Val, XP_047300413.1:p.Ala470Val, XP_047300425.1:p.Ala441Val, XP_047300432.1:p.Ala441Val, XP_047300416.1:p.Ala470Val, XP_047300404.1:p.Ala471Val, XP_047300417.1:p.Ala470Val, XP_047300403.1:p.Ala471Val, XP_047300400.1:p.Ala471Val, XP_047300402.1:p.Ala471Val, XP_047300415.1:p.Ala470Val, XP_047300401.1:p.Ala471Val, XP_047300414.1:p.Ala470Val, XP_047300426.1:p.Ala441Val, XP_047300427.1:p.Ala441Val, XP_047300422.1:p.Ala470Val, XP_047300428.1:p.Ala441Val, XP_047300421.1:p.Ala470Val, XP_047300406.1:p.Ala471Val, XP_047300405.1:p.Ala471Val, XP_047300418.1:p.Ala470Val, XP_047300420.1:p.Ala470Val, XP_047300429.1:p.Ala441Val, XP_047300430.1:p.Ala441Val, NP_001308242.1:p.Ala471Val, XP_016859663.1:p.Ala470Val, NP_001308243.1:p.Ala470Val, XP_047300431.1:p.Ala441Val, NP_001308244.1:p.Ala441Val

                    10.

                    rs1462127540 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      2:190685528 (GRCh38)
                      2:191550254 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:190685527:G:C
                      Gene:
                      NAB1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000007/1 (GnomAD)
                      C=0.000045/12 (TOPMED)
                      C=0.000142/2 (TOMMO)
                      HGVS:
                      NC_000002.12:g.190685528G>C, NC_000002.11:g.191550254G>C, NM_005966.4:c.1148G>C, NM_005966.3:c.1148G>C, XM_011511219.4:c.1148G>C, XM_011511219.3:c.1148G>C, XM_011511219.2:c.1148G>C, XM_011511219.1:c.1148G>C, XM_017004172.3:c.1145G>C, XM_017004172.2:c.1145G>C, XM_017004172.1:c.1145G>C, XM_017004175.3:c.1058G>C, XM_017004175.2:c.1058G>C, XM_017004175.1:c.1058G>C, XM_005246583.2:c.1148G>C, XM_005246583.1:c.1148G>C, XM_024452917.2:c.1148G>C, XM_024452917.1:c.1148G>C, XM_017004173.2:c.1145G>C, XM_017004173.1:c.1145G>C, XM_017004176.2:c.1148G>C, XM_017004176.1:c.1148G>C, NM_001321312.2:c.1148G>C, NM_001321312.1:c.1148G>C, XM_005246582.2:c.1148G>C, XM_005246582.1:c.1148G>C, XM_017004170.2:c.1148G>C, XM_017004170.1:c.1148G>C, XM_047444442.1:c.1148G>C, XM_047444452.1:c.1148G>C, XM_047444451.1:c.1148G>C, XM_047444468.1:c.1058G>C, XM_047444453.1:c.1148G>C, XM_047444454.1:c.1148G>C, XM_047444456.1:c.1148G>C, XM_047444467.1:c.1058G>C, XM_047444443.1:c.1148G>C, XM_047444457.1:c.1145G>C, XM_047444469.1:c.1058G>C, XM_047444476.1:c.1058G>C, XM_047444460.1:c.1145G>C, XM_047444448.1:c.1148G>C, XM_047444461.1:c.1145G>C, XM_047444447.1:c.1148G>C, XM_047444444.1:c.1148G>C, XM_047444446.1:c.1148G>C, XM_047444459.1:c.1145G>C, XM_047444445.1:c.1148G>C, XM_047444458.1:c.1145G>C, XM_047444470.1:c.1058G>C, XM_047444471.1:c.1058G>C, XM_047444466.1:c.1145G>C, XM_047444472.1:c.1058G>C, XM_047444465.1:c.1145G>C, XM_047444450.1:c.1148G>C, XM_047444449.1:c.1148G>C, XM_047444462.1:c.1145G>C, XM_047444464.1:c.1145G>C, XM_047444473.1:c.1058G>C, XM_047444474.1:c.1058G>C, NM_001321313.1:c.1148G>C, XM_017004174.1:c.1145G>C, NM_001321314.1:c.1145G>C, XM_047444475.1:c.1058G>C, NM_001321315.1:c.1058G>C, NP_005957.2:p.Gly383Ala, XP_011509521.1:p.Gly383Ala, XP_016859661.1:p.Gly382Ala, XP_016859664.1:p.Gly353Ala, XP_005246640.1:p.Gly383Ala, XP_024308685.1:p.Gly383Ala, XP_016859662.1:p.Gly382Ala, XP_016859665.1:p.Gly383Ala, NP_001308241.1:p.Gly383Ala, XP_005246639.1:p.Gly383Ala, XP_016859659.1:p.Gly383Ala, XP_047300398.1:p.Gly383Ala, XP_047300408.1:p.Gly383Ala, XP_047300407.1:p.Gly383Ala, XP_047300424.1:p.Gly353Ala, XP_047300409.1:p.Gly383Ala, XP_047300410.1:p.Gly383Ala, XP_047300412.1:p.Gly383Ala, XP_047300423.1:p.Gly353Ala, XP_047300399.1:p.Gly383Ala, XP_047300413.1:p.Gly382Ala, XP_047300425.1:p.Gly353Ala, XP_047300432.1:p.Gly353Ala, XP_047300416.1:p.Gly382Ala, XP_047300404.1:p.Gly383Ala, XP_047300417.1:p.Gly382Ala, XP_047300403.1:p.Gly383Ala, XP_047300400.1:p.Gly383Ala, XP_047300402.1:p.Gly383Ala, XP_047300415.1:p.Gly382Ala, XP_047300401.1:p.Gly383Ala, XP_047300414.1:p.Gly382Ala, XP_047300426.1:p.Gly353Ala, XP_047300427.1:p.Gly353Ala, XP_047300422.1:p.Gly382Ala, XP_047300428.1:p.Gly353Ala, XP_047300421.1:p.Gly382Ala, XP_047300406.1:p.Gly383Ala, XP_047300405.1:p.Gly383Ala, XP_047300418.1:p.Gly382Ala, XP_047300420.1:p.Gly382Ala, XP_047300429.1:p.Gly353Ala, XP_047300430.1:p.Gly353Ala, NP_001308242.1:p.Gly383Ala, XP_016859663.1:p.Gly382Ala, NP_001308243.1:p.Gly382Ala, XP_047300431.1:p.Gly353Ala, NP_001308244.1:p.Gly353Ala

                      11.

                      rs1460253832 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        2:190659859 (GRCh38)
                        2:191524585 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:190659858:T:C
                        Gene:
                        NAB1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000008/2 (TOPMED)
                        C=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000002.12:g.190659859T>C, NC_000002.11:g.191524585T>C, NM_005966.4:c.683T>C, NM_005966.3:c.683T>C, XM_011511219.4:c.683T>C, XM_011511219.3:c.683T>C, XM_011511219.2:c.683T>C, XM_011511219.1:c.683T>C, XM_017004172.3:c.683T>C, XM_017004172.2:c.683T>C, XM_017004172.1:c.683T>C, XM_017004175.3:c.683T>C, XM_017004175.2:c.683T>C, XM_017004175.1:c.683T>C, XM_005246583.2:c.683T>C, XM_005246583.1:c.683T>C, XM_024452917.2:c.683T>C, XM_024452917.1:c.683T>C, XM_017004173.2:c.683T>C, XM_017004173.1:c.683T>C, XM_017004176.2:c.683T>C, XM_017004176.1:c.683T>C, NM_001321312.2:c.683T>C, NM_001321312.1:c.683T>C, XM_005246582.2:c.683T>C, XM_005246582.1:c.683T>C, XM_017004170.2:c.683T>C, XM_017004170.1:c.683T>C, XM_047444442.1:c.683T>C, XM_047444452.1:c.683T>C, XM_047444451.1:c.683T>C, XM_047444468.1:c.683T>C, XM_047444453.1:c.683T>C, XM_047444454.1:c.683T>C, XM_047444456.1:c.683T>C, XM_047444467.1:c.683T>C, XM_047444443.1:c.683T>C, XM_047444457.1:c.683T>C, XM_047444469.1:c.683T>C, XM_047444476.1:c.683T>C, XM_047444460.1:c.683T>C, XM_047444448.1:c.683T>C, XM_047444461.1:c.683T>C, XM_047444447.1:c.683T>C, XM_047444444.1:c.683T>C, XM_047444446.1:c.683T>C, XM_047444459.1:c.683T>C, XM_047444445.1:c.683T>C, XM_047444458.1:c.683T>C, XM_047444470.1:c.683T>C, XM_047444471.1:c.683T>C, XM_047444466.1:c.683T>C, XM_047444472.1:c.683T>C, XM_047444465.1:c.683T>C, XM_047444450.1:c.683T>C, XM_047444449.1:c.683T>C, XM_047444462.1:c.683T>C, XM_047444464.1:c.683T>C, XM_047444473.1:c.683T>C, XM_047444474.1:c.683T>C, NM_001321313.1:c.683T>C, XM_017004174.1:c.683T>C, NM_001321314.1:c.683T>C, XM_047444475.1:c.683T>C, NM_001321315.1:c.683T>C, NP_005957.2:p.Leu228Ser, XP_011509521.1:p.Leu228Ser, XP_016859661.1:p.Leu228Ser, XP_016859664.1:p.Leu228Ser, XP_005246640.1:p.Leu228Ser, XP_024308685.1:p.Leu228Ser, XP_016859662.1:p.Leu228Ser, XP_016859665.1:p.Leu228Ser, NP_001308241.1:p.Leu228Ser, XP_005246639.1:p.Leu228Ser, XP_016859659.1:p.Leu228Ser, XP_047300398.1:p.Leu228Ser, XP_047300408.1:p.Leu228Ser, XP_047300407.1:p.Leu228Ser, XP_047300424.1:p.Leu228Ser, XP_047300409.1:p.Leu228Ser, XP_047300410.1:p.Leu228Ser, XP_047300412.1:p.Leu228Ser, XP_047300423.1:p.Leu228Ser, XP_047300399.1:p.Leu228Ser, XP_047300413.1:p.Leu228Ser, XP_047300425.1:p.Leu228Ser, XP_047300432.1:p.Leu228Ser, XP_047300416.1:p.Leu228Ser, XP_047300404.1:p.Leu228Ser, XP_047300417.1:p.Leu228Ser, XP_047300403.1:p.Leu228Ser, XP_047300400.1:p.Leu228Ser, XP_047300402.1:p.Leu228Ser, XP_047300415.1:p.Leu228Ser, XP_047300401.1:p.Leu228Ser, XP_047300414.1:p.Leu228Ser, XP_047300426.1:p.Leu228Ser, XP_047300427.1:p.Leu228Ser, XP_047300422.1:p.Leu228Ser, XP_047300428.1:p.Leu228Ser, XP_047300421.1:p.Leu228Ser, XP_047300406.1:p.Leu228Ser, XP_047300405.1:p.Leu228Ser, XP_047300418.1:p.Leu228Ser, XP_047300420.1:p.Leu228Ser, XP_047300429.1:p.Leu228Ser, XP_047300430.1:p.Leu228Ser, NP_001308242.1:p.Leu228Ser, XP_016859663.1:p.Leu228Ser, NP_001308243.1:p.Leu228Ser, XP_047300431.1:p.Leu228Ser, NP_001308244.1:p.Leu228Ser

                        12.

                        rs1456117336 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          2:190670336 (GRCh38)
                          2:191535062 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:190670335:A:G
                          Gene:
                          NAB1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000035/1 (TOMMO)
                          HGVS:
                          NC_000002.12:g.190670336A>G, NC_000002.11:g.191535062A>G, NM_005966.4:c.830A>G, NM_005966.3:c.830A>G, XM_011511219.4:c.830A>G, XM_011511219.3:c.830A>G, XM_011511219.2:c.830A>G, XM_011511219.1:c.830A>G, XM_017004172.3:c.830A>G, XM_017004172.2:c.830A>G, XM_017004172.1:c.830A>G, XM_017004175.3:c.830A>G, XM_017004175.2:c.830A>G, XM_017004175.1:c.830A>G, XM_005246583.2:c.830A>G, XM_005246583.1:c.830A>G, XM_024452917.2:c.830A>G, XM_024452917.1:c.830A>G, XM_017004173.2:c.830A>G, XM_017004173.1:c.830A>G, XM_017004176.2:c.830A>G, XM_017004176.1:c.830A>G, NM_001321312.2:c.830A>G, NM_001321312.1:c.830A>G, XM_005246582.2:c.830A>G, XM_005246582.1:c.830A>G, XM_017004170.2:c.830A>G, XM_017004170.1:c.830A>G, XM_047444442.1:c.830A>G, XM_047444452.1:c.830A>G, XM_047444451.1:c.830A>G, XM_047444468.1:c.830A>G, XM_047444453.1:c.830A>G, XM_047444454.1:c.830A>G, XM_047444456.1:c.830A>G, XM_047444467.1:c.830A>G, XM_047444443.1:c.830A>G, XM_047444457.1:c.830A>G, XM_047444469.1:c.830A>G, XM_047444476.1:c.830A>G, XM_047444460.1:c.830A>G, XM_047444448.1:c.830A>G, XM_047444461.1:c.830A>G, XM_047444447.1:c.830A>G, XM_047444444.1:c.830A>G, XM_047444446.1:c.830A>G, XM_047444459.1:c.830A>G, XM_047444445.1:c.830A>G, XM_047444458.1:c.830A>G, XM_047444470.1:c.830A>G, XM_047444471.1:c.830A>G, XM_047444466.1:c.830A>G, XM_047444472.1:c.830A>G, XM_047444465.1:c.830A>G, XM_047444450.1:c.830A>G, XM_047444449.1:c.830A>G, XM_047444462.1:c.830A>G, XM_047444464.1:c.830A>G, XM_047444473.1:c.830A>G, XM_047444474.1:c.830A>G, NM_001321313.1:c.830A>G, XM_017004174.1:c.830A>G, NM_001321314.1:c.830A>G, XM_047444475.1:c.830A>G, NM_001321315.1:c.830A>G, NP_005957.2:p.Asn277Ser, XP_011509521.1:p.Asn277Ser, XP_016859661.1:p.Asn277Ser, XP_016859664.1:p.Asn277Ser, XP_005246640.1:p.Asn277Ser, XP_024308685.1:p.Asn277Ser, XP_016859662.1:p.Asn277Ser, XP_016859665.1:p.Asn277Ser, NP_001308241.1:p.Asn277Ser, XP_005246639.1:p.Asn277Ser, XP_016859659.1:p.Asn277Ser, XP_047300398.1:p.Asn277Ser, XP_047300408.1:p.Asn277Ser, XP_047300407.1:p.Asn277Ser, XP_047300424.1:p.Asn277Ser, XP_047300409.1:p.Asn277Ser, XP_047300410.1:p.Asn277Ser, XP_047300412.1:p.Asn277Ser, XP_047300423.1:p.Asn277Ser, XP_047300399.1:p.Asn277Ser, XP_047300413.1:p.Asn277Ser, XP_047300425.1:p.Asn277Ser, XP_047300432.1:p.Asn277Ser, XP_047300416.1:p.Asn277Ser, XP_047300404.1:p.Asn277Ser, XP_047300417.1:p.Asn277Ser, XP_047300403.1:p.Asn277Ser, XP_047300400.1:p.Asn277Ser, XP_047300402.1:p.Asn277Ser, XP_047300415.1:p.Asn277Ser, XP_047300401.1:p.Asn277Ser, XP_047300414.1:p.Asn277Ser, XP_047300426.1:p.Asn277Ser, XP_047300427.1:p.Asn277Ser, XP_047300422.1:p.Asn277Ser, XP_047300428.1:p.Asn277Ser, XP_047300421.1:p.Asn277Ser, XP_047300406.1:p.Asn277Ser, XP_047300405.1:p.Asn277Ser, XP_047300418.1:p.Asn277Ser, XP_047300420.1:p.Asn277Ser, XP_047300429.1:p.Asn277Ser, XP_047300430.1:p.Asn277Ser, NP_001308242.1:p.Asn277Ser, XP_016859663.1:p.Asn277Ser, NP_001308243.1:p.Asn277Ser, XP_047300431.1:p.Asn277Ser, NP_001308244.1:p.Asn277Ser

                          13.

                          rs1453174900 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            2:190670400 (GRCh38)
                            2:191535126 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:190670399:T:C
                            Gene:
                            NAB1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.190670400T>C, NC_000002.11:g.191535126T>C, NM_005966.4:c.894T>C, NM_005966.3:c.894T>C, XM_011511219.4:c.894T>C, XM_011511219.3:c.894T>C, XM_011511219.2:c.894T>C, XM_011511219.1:c.894T>C, XM_017004172.3:c.894T>C, XM_017004172.2:c.894T>C, XM_017004172.1:c.894T>C, XM_017004175.3:c.894T>C, XM_017004175.2:c.894T>C, XM_017004175.1:c.894T>C, XM_005246583.2:c.894T>C, XM_005246583.1:c.894T>C, XM_024452917.2:c.894T>C, XM_024452917.1:c.894T>C, XM_017004173.2:c.894T>C, XM_017004173.1:c.894T>C, XM_017004176.2:c.894T>C, XM_017004176.1:c.894T>C, NM_001321312.2:c.894T>C, NM_001321312.1:c.894T>C, XM_005246582.2:c.894T>C, XM_005246582.1:c.894T>C, XM_017004170.2:c.894T>C, XM_017004170.1:c.894T>C, XM_047444442.1:c.894T>C, XM_047444452.1:c.894T>C, XM_047444451.1:c.894T>C, XM_047444468.1:c.894T>C, XM_047444453.1:c.894T>C, XM_047444454.1:c.894T>C, XM_047444456.1:c.894T>C, XM_047444467.1:c.894T>C, XM_047444443.1:c.894T>C, XM_047444457.1:c.894T>C, XM_047444469.1:c.894T>C, XM_047444476.1:c.894T>C, XM_047444460.1:c.894T>C, XM_047444448.1:c.894T>C, XM_047444461.1:c.894T>C, XM_047444447.1:c.894T>C, XM_047444444.1:c.894T>C, XM_047444446.1:c.894T>C, XM_047444459.1:c.894T>C, XM_047444445.1:c.894T>C, XM_047444458.1:c.894T>C, XM_047444470.1:c.894T>C, XM_047444471.1:c.894T>C, XM_047444466.1:c.894T>C, XM_047444472.1:c.894T>C, XM_047444465.1:c.894T>C, XM_047444450.1:c.894T>C, XM_047444449.1:c.894T>C, XM_047444462.1:c.894T>C, XM_047444464.1:c.894T>C, XM_047444473.1:c.894T>C, XM_047444474.1:c.894T>C, NM_001321313.1:c.894T>C, XM_017004174.1:c.894T>C, NM_001321314.1:c.894T>C, XM_047444475.1:c.894T>C, NM_001321315.1:c.894T>C

                            14.

                            rs1450224197 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              2:190687237 (GRCh38)
                              2:191551963 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:190687236:A:G
                              Gene:
                              NAB1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              HGVS:
                              NC_000002.12:g.190687237A>G, NC_000002.11:g.191551963A>G, NM_005966.4:c.1295A>G, NM_005966.3:c.1295A>G, XM_011511219.4:c.1295A>G, XM_011511219.3:c.1295A>G, XM_011511219.2:c.1295A>G, XM_011511219.1:c.1295A>G, XM_017004172.3:c.1292A>G, XM_017004172.2:c.1292A>G, XM_017004172.1:c.1292A>G, XM_017004175.3:c.1205A>G, XM_017004175.2:c.1205A>G, XM_017004175.1:c.1205A>G, XM_005246583.2:c.1295A>G, XM_005246583.1:c.1295A>G, XM_024452917.2:c.1295A>G, XM_024452917.1:c.1295A>G, XM_017004173.2:c.1292A>G, XM_017004173.1:c.1292A>G, XM_017004176.2:c.1295A>G, XM_017004176.1:c.1295A>G, NM_001321312.2:c.1295A>G, NM_001321312.1:c.1295A>G, XM_005246582.2:c.1295A>G, XM_005246582.1:c.1295A>G, XM_017004170.2:c.1295A>G, XM_017004170.1:c.1295A>G, XM_047444442.1:c.1295A>G, XM_047444452.1:c.1295A>G, XM_047444451.1:c.1295A>G, XM_047444468.1:c.1205A>G, XM_047444453.1:c.1295A>G, XM_047444454.1:c.1295A>G, XM_047444456.1:c.1295A>G, XM_047444467.1:c.1205A>G, XM_047444443.1:c.1295A>G, XM_047444457.1:c.1292A>G, XM_047444469.1:c.1205A>G, XM_047444476.1:c.1205A>G, XM_047444460.1:c.1292A>G, XM_047444448.1:c.1295A>G, XM_047444461.1:c.1292A>G, XM_047444447.1:c.1295A>G, XM_047444444.1:c.1295A>G, XM_047444446.1:c.1295A>G, XM_047444459.1:c.1292A>G, XM_047444445.1:c.1295A>G, XM_047444458.1:c.1292A>G, XM_047444470.1:c.1205A>G, XM_047444471.1:c.1205A>G, XM_047444466.1:c.1292A>G, XM_047444472.1:c.1205A>G, XM_047444465.1:c.1292A>G, XM_047444450.1:c.1295A>G, XM_047444449.1:c.1295A>G, XM_047444462.1:c.1292A>G, XM_047444464.1:c.1292A>G, XM_047444473.1:c.1205A>G, XM_047444474.1:c.1205A>G, NM_001321313.1:c.1295A>G, XM_017004174.1:c.1292A>G, NM_001321314.1:c.1292A>G, XM_047444475.1:c.1205A>G, NM_001321315.1:c.1205A>G, NP_005957.2:p.Gln432Arg, XP_011509521.1:p.Gln432Arg, XP_016859661.1:p.Gln431Arg, XP_016859664.1:p.Gln402Arg, XP_005246640.1:p.Gln432Arg, XP_024308685.1:p.Gln432Arg, XP_016859662.1:p.Gln431Arg, XP_016859665.1:p.Gln432Arg, NP_001308241.1:p.Gln432Arg, XP_005246639.1:p.Gln432Arg, XP_016859659.1:p.Gln432Arg, XP_047300398.1:p.Gln432Arg, XP_047300408.1:p.Gln432Arg, XP_047300407.1:p.Gln432Arg, XP_047300424.1:p.Gln402Arg, XP_047300409.1:p.Gln432Arg, XP_047300410.1:p.Gln432Arg, XP_047300412.1:p.Gln432Arg, XP_047300423.1:p.Gln402Arg, XP_047300399.1:p.Gln432Arg, XP_047300413.1:p.Gln431Arg, XP_047300425.1:p.Gln402Arg, XP_047300432.1:p.Gln402Arg, XP_047300416.1:p.Gln431Arg, XP_047300404.1:p.Gln432Arg, XP_047300417.1:p.Gln431Arg, XP_047300403.1:p.Gln432Arg, XP_047300400.1:p.Gln432Arg, XP_047300402.1:p.Gln432Arg, XP_047300415.1:p.Gln431Arg, XP_047300401.1:p.Gln432Arg, XP_047300414.1:p.Gln431Arg, XP_047300426.1:p.Gln402Arg, XP_047300427.1:p.Gln402Arg, XP_047300422.1:p.Gln431Arg, XP_047300428.1:p.Gln402Arg, XP_047300421.1:p.Gln431Arg, XP_047300406.1:p.Gln432Arg, XP_047300405.1:p.Gln432Arg, XP_047300418.1:p.Gln431Arg, XP_047300420.1:p.Gln431Arg, XP_047300429.1:p.Gln402Arg, XP_047300430.1:p.Gln402Arg, NP_001308242.1:p.Gln432Arg, XP_016859663.1:p.Gln431Arg, NP_001308243.1:p.Gln431Arg, XP_047300431.1:p.Gln402Arg, NP_001308244.1:p.Gln402Arg

                              15.

                              rs1448626859 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C,T [Show Flanks]
                                Chromosome:
                                2:190659615 (GRCh38)
                                2:191524341 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:190659614:G:C,NC_000002.12:190659614:G:T
                                Gene:
                                NAB1 (Varview)
                                Functional Consequence:
                                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:
                                NC_000002.12:g.190659615G>C, NC_000002.12:g.190659615G>T, NC_000002.11:g.191524341G>C, NC_000002.11:g.191524341G>T, NM_005966.4:c.439G>C, NM_005966.4:c.439G>T, NM_005966.3:c.439G>C, NM_005966.3:c.439G>T, XM_011511219.4:c.439G>C, XM_011511219.4:c.439G>T, XM_011511219.3:c.439G>C, XM_011511219.3:c.439G>T, XM_011511219.2:c.439G>C, XM_011511219.2:c.439G>T, XM_011511219.1:c.439G>C, XM_011511219.1:c.439G>T, XM_017004172.3:c.439G>C, XM_017004172.3:c.439G>T, XM_017004172.2:c.439G>C, XM_017004172.2:c.439G>T, XM_017004172.1:c.439G>C, XM_017004172.1:c.439G>T, XM_017004175.3:c.439G>C, XM_017004175.3:c.439G>T, XM_017004175.2:c.439G>C, XM_017004175.2:c.439G>T, XM_017004175.1:c.439G>C, XM_017004175.1:c.439G>T, XM_005246583.2:c.439G>C, XM_005246583.2:c.439G>T, XM_005246583.1:c.439G>C, XM_005246583.1:c.439G>T, XM_024452917.2:c.439G>C, XM_024452917.2:c.439G>T, XM_024452917.1:c.439G>C, XM_024452917.1:c.439G>T, XM_017004173.2:c.439G>C, XM_017004173.2:c.439G>T, XM_017004173.1:c.439G>C, XM_017004173.1:c.439G>T, XM_017004176.2:c.439G>C, XM_017004176.2:c.439G>T, XM_017004176.1:c.439G>C, XM_017004176.1:c.439G>T, NM_001321312.2:c.439G>C, NM_001321312.2:c.439G>T, NM_001321312.1:c.439G>C, NM_001321312.1:c.439G>T, XM_005246582.2:c.439G>C, XM_005246582.2:c.439G>T, XM_005246582.1:c.439G>C, XM_005246582.1:c.439G>T, XM_017004170.2:c.439G>C, XM_017004170.2:c.439G>T, XM_017004170.1:c.439G>C, XM_017004170.1:c.439G>T, XM_047444442.1:c.439G>C, XM_047444442.1:c.439G>T, XM_047444452.1:c.439G>C, XM_047444452.1:c.439G>T, XM_047444451.1:c.439G>C, XM_047444451.1:c.439G>T, XM_047444468.1:c.439G>C, XM_047444468.1:c.439G>T, XM_047444453.1:c.439G>C, XM_047444453.1:c.439G>T, XM_047444454.1:c.439G>C, XM_047444454.1:c.439G>T, XM_047444456.1:c.439G>C, XM_047444456.1:c.439G>T, XM_047444467.1:c.439G>C, XM_047444467.1:c.439G>T, XM_047444443.1:c.439G>C, XM_047444443.1:c.439G>T, XM_047444457.1:c.439G>C, XM_047444457.1:c.439G>T, XM_047444469.1:c.439G>C, XM_047444469.1:c.439G>T, XM_047444476.1:c.439G>C, XM_047444476.1:c.439G>T, XM_047444460.1:c.439G>C, XM_047444460.1:c.439G>T, XM_047444448.1:c.439G>C, XM_047444448.1:c.439G>T, XM_047444461.1:c.439G>C, XM_047444461.1:c.439G>T, XM_047444447.1:c.439G>C, XM_047444447.1:c.439G>T, XM_047444444.1:c.439G>C, XM_047444444.1:c.439G>T, XM_047444446.1:c.439G>C, XM_047444446.1:c.439G>T, XM_047444459.1:c.439G>C, XM_047444459.1:c.439G>T, XM_047444445.1:c.439G>C, XM_047444445.1:c.439G>T, XM_047444458.1:c.439G>C, XM_047444458.1:c.439G>T, XM_047444470.1:c.439G>C, XM_047444470.1:c.439G>T, XM_047444471.1:c.439G>C, XM_047444471.1:c.439G>T, XM_047444466.1:c.439G>C, XM_047444466.1:c.439G>T, XM_047444472.1:c.439G>C, XM_047444472.1:c.439G>T, XM_047444465.1:c.439G>C, XM_047444465.1:c.439G>T, XM_047444450.1:c.439G>C, XM_047444450.1:c.439G>T, XM_047444449.1:c.439G>C, XM_047444449.1:c.439G>T, XM_047444462.1:c.439G>C, XM_047444462.1:c.439G>T, XM_047444464.1:c.439G>C, XM_047444464.1:c.439G>T, XM_047444473.1:c.439G>C, XM_047444473.1:c.439G>T, XM_047444474.1:c.439G>C, XM_047444474.1:c.439G>T, NM_001321313.1:c.439G>C, NM_001321313.1:c.439G>T, XM_017004174.1:c.439G>C, XM_017004174.1:c.439G>T, NM_001321314.1:c.439G>C, NM_001321314.1:c.439G>T, XM_047444475.1:c.439G>C, XM_047444475.1:c.439G>T, NM_001321315.1:c.439G>C, NM_001321315.1:c.439G>T, NP_005957.2:p.Val147Leu, NP_005957.2:p.Val147Phe, XP_011509521.1:p.Val147Leu, XP_011509521.1:p.Val147Phe, XP_016859661.1:p.Val147Leu, XP_016859661.1:p.Val147Phe, XP_016859664.1:p.Val147Leu, XP_016859664.1:p.Val147Phe, XP_005246640.1:p.Val147Leu, XP_005246640.1:p.Val147Phe, XP_024308685.1:p.Val147Leu, XP_024308685.1:p.Val147Phe, XP_016859662.1:p.Val147Leu, XP_016859662.1:p.Val147Phe, XP_016859665.1:p.Val147Leu, XP_016859665.1:p.Val147Phe, NP_001308241.1:p.Val147Leu, NP_001308241.1:p.Val147Phe, XP_005246639.1:p.Val147Leu, XP_005246639.1:p.Val147Phe, XP_016859659.1:p.Val147Leu, XP_016859659.1:p.Val147Phe, XP_047300398.1:p.Val147Leu, XP_047300398.1:p.Val147Phe, XP_047300408.1:p.Val147Leu, XP_047300408.1:p.Val147Phe, XP_047300407.1:p.Val147Leu, XP_047300407.1:p.Val147Phe, XP_047300424.1:p.Val147Leu, XP_047300424.1:p.Val147Phe, XP_047300409.1:p.Val147Leu, XP_047300409.1:p.Val147Phe, XP_047300410.1:p.Val147Leu, XP_047300410.1:p.Val147Phe, XP_047300412.1:p.Val147Leu, XP_047300412.1:p.Val147Phe, XP_047300423.1:p.Val147Leu, XP_047300423.1:p.Val147Phe, XP_047300399.1:p.Val147Leu, XP_047300399.1:p.Val147Phe, XP_047300413.1:p.Val147Leu, XP_047300413.1:p.Val147Phe, XP_047300425.1:p.Val147Leu, XP_047300425.1:p.Val147Phe, XP_047300432.1:p.Val147Leu, XP_047300432.1:p.Val147Phe, XP_047300416.1:p.Val147Leu, XP_047300416.1:p.Val147Phe, XP_047300404.1:p.Val147Leu, XP_047300404.1:p.Val147Phe, XP_047300417.1:p.Val147Leu, XP_047300417.1:p.Val147Phe, XP_047300403.1:p.Val147Leu, XP_047300403.1:p.Val147Phe, XP_047300400.1:p.Val147Leu, XP_047300400.1:p.Val147Phe, XP_047300402.1:p.Val147Leu, XP_047300402.1:p.Val147Phe, XP_047300415.1:p.Val147Leu, XP_047300415.1:p.Val147Phe, XP_047300401.1:p.Val147Leu, XP_047300401.1:p.Val147Phe, XP_047300414.1:p.Val147Leu, XP_047300414.1:p.Val147Phe, XP_047300426.1:p.Val147Leu, XP_047300426.1:p.Val147Phe, XP_047300427.1:p.Val147Leu, XP_047300427.1:p.Val147Phe, XP_047300422.1:p.Val147Leu, XP_047300422.1:p.Val147Phe, XP_047300428.1:p.Val147Leu, XP_047300428.1:p.Val147Phe, XP_047300421.1:p.Val147Leu, XP_047300421.1:p.Val147Phe, XP_047300406.1:p.Val147Leu, XP_047300406.1:p.Val147Phe, XP_047300405.1:p.Val147Leu, XP_047300405.1:p.Val147Phe, XP_047300418.1:p.Val147Leu, XP_047300418.1:p.Val147Phe, XP_047300420.1:p.Val147Leu, XP_047300420.1:p.Val147Phe, XP_047300429.1:p.Val147Leu, XP_047300429.1:p.Val147Phe, XP_047300430.1:p.Val147Leu, XP_047300430.1:p.Val147Phe, NP_001308242.1:p.Val147Leu, NP_001308242.1:p.Val147Phe, XP_016859663.1:p.Val147Leu, XP_016859663.1:p.Val147Phe, NP_001308243.1:p.Val147Leu, NP_001308243.1:p.Val147Phe, XP_047300431.1:p.Val147Leu, XP_047300431.1:p.Val147Phe, NP_001308244.1:p.Val147Leu, NP_001308244.1:p.Val147Phe

                                16.

                                rs1447801742 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  2:190670377 (GRCh38)
                                  2:191535103 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:190670376:C:A
                                  Gene:
                                  NAB1 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000002.12:g.190670377C>A, NC_000002.11:g.191535103C>A, NM_005966.4:c.871C>A, NM_005966.3:c.871C>A, XM_011511219.4:c.871C>A, XM_011511219.3:c.871C>A, XM_011511219.2:c.871C>A, XM_011511219.1:c.871C>A, XM_017004172.3:c.871C>A, XM_017004172.2:c.871C>A, XM_017004172.1:c.871C>A, XM_017004175.3:c.871C>A, XM_017004175.2:c.871C>A, XM_017004175.1:c.871C>A, XM_005246583.2:c.871C>A, XM_005246583.1:c.871C>A, XM_024452917.2:c.871C>A, XM_024452917.1:c.871C>A, XM_017004173.2:c.871C>A, XM_017004173.1:c.871C>A, XM_017004176.2:c.871C>A, XM_017004176.1:c.871C>A, NM_001321312.2:c.871C>A, NM_001321312.1:c.871C>A, XM_005246582.2:c.871C>A, XM_005246582.1:c.871C>A, XM_017004170.2:c.871C>A, XM_017004170.1:c.871C>A, XM_047444442.1:c.871C>A, XM_047444452.1:c.871C>A, XM_047444451.1:c.871C>A, XM_047444468.1:c.871C>A, XM_047444453.1:c.871C>A, XM_047444454.1:c.871C>A, XM_047444456.1:c.871C>A, XM_047444467.1:c.871C>A, XM_047444443.1:c.871C>A, XM_047444457.1:c.871C>A, XM_047444469.1:c.871C>A, XM_047444476.1:c.871C>A, XM_047444460.1:c.871C>A, XM_047444448.1:c.871C>A, XM_047444461.1:c.871C>A, XM_047444447.1:c.871C>A, XM_047444444.1:c.871C>A, XM_047444446.1:c.871C>A, XM_047444459.1:c.871C>A, XM_047444445.1:c.871C>A, XM_047444458.1:c.871C>A, XM_047444470.1:c.871C>A, XM_047444471.1:c.871C>A, XM_047444466.1:c.871C>A, XM_047444472.1:c.871C>A, XM_047444465.1:c.871C>A, XM_047444450.1:c.871C>A, XM_047444449.1:c.871C>A, XM_047444462.1:c.871C>A, XM_047444464.1:c.871C>A, XM_047444473.1:c.871C>A, XM_047444474.1:c.871C>A, NM_001321313.1:c.871C>A, XM_017004174.1:c.871C>A, NM_001321314.1:c.871C>A, XM_047444475.1:c.871C>A, NM_001321315.1:c.871C>A, NP_005957.2:p.Leu291Met, XP_011509521.1:p.Leu291Met, XP_016859661.1:p.Leu291Met, XP_016859664.1:p.Leu291Met, XP_005246640.1:p.Leu291Met, XP_024308685.1:p.Leu291Met, XP_016859662.1:p.Leu291Met, XP_016859665.1:p.Leu291Met, NP_001308241.1:p.Leu291Met, XP_005246639.1:p.Leu291Met, XP_016859659.1:p.Leu291Met, XP_047300398.1:p.Leu291Met, XP_047300408.1:p.Leu291Met, XP_047300407.1:p.Leu291Met, XP_047300424.1:p.Leu291Met, XP_047300409.1:p.Leu291Met, XP_047300410.1:p.Leu291Met, XP_047300412.1:p.Leu291Met, XP_047300423.1:p.Leu291Met, XP_047300399.1:p.Leu291Met, XP_047300413.1:p.Leu291Met, XP_047300425.1:p.Leu291Met, XP_047300432.1:p.Leu291Met, XP_047300416.1:p.Leu291Met, XP_047300404.1:p.Leu291Met, XP_047300417.1:p.Leu291Met, XP_047300403.1:p.Leu291Met, XP_047300400.1:p.Leu291Met, XP_047300402.1:p.Leu291Met, XP_047300415.1:p.Leu291Met, XP_047300401.1:p.Leu291Met, XP_047300414.1:p.Leu291Met, XP_047300426.1:p.Leu291Met, XP_047300427.1:p.Leu291Met, XP_047300422.1:p.Leu291Met, XP_047300428.1:p.Leu291Met, XP_047300421.1:p.Leu291Met, XP_047300406.1:p.Leu291Met, XP_047300405.1:p.Leu291Met, XP_047300418.1:p.Leu291Met, XP_047300420.1:p.Leu291Met, XP_047300429.1:p.Leu291Met, XP_047300430.1:p.Leu291Met, NP_001308242.1:p.Leu291Met, XP_016859663.1:p.Leu291Met, NP_001308243.1:p.Leu291Met, XP_047300431.1:p.Leu291Met, NP_001308244.1:p.Leu291Met

                                  17.

                                  rs1446368713 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    2:190659321 (GRCh38)
                                    2:191524047 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:190659320:T:A
                                    Gene:
                                    NAB1 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000002.12:g.190659321T>A, NC_000002.11:g.191524047T>A, NM_005966.4:c.145T>A, NM_005966.3:c.145T>A, XM_011511219.4:c.145T>A, XM_011511219.3:c.145T>A, XM_011511219.2:c.145T>A, XM_011511219.1:c.145T>A, XM_017004172.3:c.145T>A, XM_017004172.2:c.145T>A, XM_017004172.1:c.145T>A, XM_017004175.3:c.145T>A, XM_017004175.2:c.145T>A, XM_017004175.1:c.145T>A, XM_005246583.2:c.145T>A, XM_005246583.1:c.145T>A, XM_024452917.2:c.145T>A, XM_024452917.1:c.145T>A, XM_017004173.2:c.145T>A, XM_017004173.1:c.145T>A, XM_017004176.2:c.145T>A, XM_017004176.1:c.145T>A, NM_001321312.2:c.145T>A, NM_001321312.1:c.145T>A, XM_005246582.2:c.145T>A, XM_005246582.1:c.145T>A, XM_017004170.2:c.145T>A, XM_017004170.1:c.145T>A, XM_047444442.1:c.145T>A, XM_047444452.1:c.145T>A, XM_047444451.1:c.145T>A, XM_047444468.1:c.145T>A, XM_047444453.1:c.145T>A, XM_047444454.1:c.145T>A, XM_047444456.1:c.145T>A, XM_047444467.1:c.145T>A, XM_047444443.1:c.145T>A, XM_047444457.1:c.145T>A, XM_047444469.1:c.145T>A, XM_047444476.1:c.145T>A, XM_047444460.1:c.145T>A, XM_047444448.1:c.145T>A, XM_047444461.1:c.145T>A, XM_047444447.1:c.145T>A, XM_047444444.1:c.145T>A, XM_047444446.1:c.145T>A, XM_047444459.1:c.145T>A, XM_047444445.1:c.145T>A, XM_047444458.1:c.145T>A, XM_047444470.1:c.145T>A, XM_047444471.1:c.145T>A, XM_047444466.1:c.145T>A, XM_047444472.1:c.145T>A, XM_047444465.1:c.145T>A, XM_047444450.1:c.145T>A, XM_047444449.1:c.145T>A, XM_047444462.1:c.145T>A, XM_047444464.1:c.145T>A, XM_047444473.1:c.145T>A, XM_047444474.1:c.145T>A, NM_001321313.1:c.145T>A, XM_017004174.1:c.145T>A, NM_001321314.1:c.145T>A, XM_047444475.1:c.145T>A, NM_001321315.1:c.145T>A, NP_005957.2:p.Phe49Ile, XP_011509521.1:p.Phe49Ile, XP_016859661.1:p.Phe49Ile, XP_016859664.1:p.Phe49Ile, XP_005246640.1:p.Phe49Ile, XP_024308685.1:p.Phe49Ile, XP_016859662.1:p.Phe49Ile, XP_016859665.1:p.Phe49Ile, NP_001308241.1:p.Phe49Ile, XP_005246639.1:p.Phe49Ile, XP_016859659.1:p.Phe49Ile, XP_047300398.1:p.Phe49Ile, XP_047300408.1:p.Phe49Ile, XP_047300407.1:p.Phe49Ile, XP_047300424.1:p.Phe49Ile, XP_047300409.1:p.Phe49Ile, XP_047300410.1:p.Phe49Ile, XP_047300412.1:p.Phe49Ile, XP_047300423.1:p.Phe49Ile, XP_047300399.1:p.Phe49Ile, XP_047300413.1:p.Phe49Ile, XP_047300425.1:p.Phe49Ile, XP_047300432.1:p.Phe49Ile, XP_047300416.1:p.Phe49Ile, XP_047300404.1:p.Phe49Ile, XP_047300417.1:p.Phe49Ile, XP_047300403.1:p.Phe49Ile, XP_047300400.1:p.Phe49Ile, XP_047300402.1:p.Phe49Ile, XP_047300415.1:p.Phe49Ile, XP_047300401.1:p.Phe49Ile, XP_047300414.1:p.Phe49Ile, XP_047300426.1:p.Phe49Ile, XP_047300427.1:p.Phe49Ile, XP_047300422.1:p.Phe49Ile, XP_047300428.1:p.Phe49Ile, XP_047300421.1:p.Phe49Ile, XP_047300406.1:p.Phe49Ile, XP_047300405.1:p.Phe49Ile, XP_047300418.1:p.Phe49Ile, XP_047300420.1:p.Phe49Ile, XP_047300429.1:p.Phe49Ile, XP_047300430.1:p.Phe49Ile, NP_001308242.1:p.Phe49Ile, XP_016859663.1:p.Phe49Ile, NP_001308243.1:p.Phe49Ile, XP_047300431.1:p.Phe49Ile, NP_001308244.1:p.Phe49Ile

                                    18.

                                    rs1444348233 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      2:190687307 (GRCh38)
                                      2:191552033 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:190687306:C:T
                                      Gene:
                                      NAB1 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000002.12:g.190687307C>T, NC_000002.11:g.191552033C>T, NM_005966.4:c.1365C>T, NM_005966.3:c.1365C>T, XM_011511219.4:c.1365C>T, XM_011511219.3:c.1365C>T, XM_011511219.2:c.1365C>T, XM_011511219.1:c.1365C>T, XM_017004172.3:c.1362C>T, XM_017004172.2:c.1362C>T, XM_017004172.1:c.1362C>T, XM_017004175.3:c.1275C>T, XM_017004175.2:c.1275C>T, XM_017004175.1:c.1275C>T, XM_005246583.2:c.1365C>T, XM_005246583.1:c.1365C>T, XM_024452917.2:c.1365C>T, XM_024452917.1:c.1365C>T, XM_017004173.2:c.1362C>T, XM_017004173.1:c.1362C>T, XM_017004176.2:c.1365C>T, XM_017004176.1:c.1365C>T, NM_001321312.2:c.1365C>T, NM_001321312.1:c.1365C>T, XM_005246582.2:c.1365C>T, XM_005246582.1:c.1365C>T, XM_017004170.2:c.1365C>T, XM_017004170.1:c.1365C>T, XM_047444442.1:c.1365C>T, XM_047444452.1:c.1365C>T, XM_047444451.1:c.1365C>T, XM_047444468.1:c.1275C>T, XM_047444453.1:c.1365C>T, XM_047444454.1:c.1365C>T, XM_047444456.1:c.1365C>T, XM_047444467.1:c.1275C>T, XM_047444443.1:c.1365C>T, XM_047444457.1:c.1362C>T, XM_047444469.1:c.1275C>T, XM_047444476.1:c.1275C>T, XM_047444460.1:c.1362C>T, XM_047444448.1:c.1365C>T, XM_047444461.1:c.1362C>T, XM_047444447.1:c.1365C>T, XM_047444444.1:c.1365C>T, XM_047444446.1:c.1365C>T, XM_047444459.1:c.1362C>T, XM_047444445.1:c.1365C>T, XM_047444458.1:c.1362C>T, XM_047444470.1:c.1275C>T, XM_047444471.1:c.1275C>T, XM_047444466.1:c.1362C>T, XM_047444472.1:c.1275C>T, XM_047444465.1:c.1362C>T, XM_047444450.1:c.1365C>T, XM_047444449.1:c.1365C>T, XM_047444462.1:c.1362C>T, XM_047444464.1:c.1362C>T, XM_047444473.1:c.1275C>T, XM_047444474.1:c.1275C>T, NM_001321313.1:c.1365C>T, XM_017004174.1:c.1362C>T, NM_001321314.1:c.1362C>T, XM_047444475.1:c.1275C>T, NM_001321315.1:c.1275C>T

                                      19.

                                      rs1443024608 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        2:190659963 (GRCh38)
                                        2:191524689 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:190659962:A:G
                                        Gene:
                                        NAB1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        HGVS:
                                        NC_000002.12:g.190659963A>G, NC_000002.11:g.191524689A>G, NM_005966.4:c.787A>G, NM_005966.3:c.787A>G, XM_011511219.4:c.787A>G, XM_011511219.3:c.787A>G, XM_011511219.2:c.787A>G, XM_011511219.1:c.787A>G, XM_017004172.3:c.787A>G, XM_017004172.2:c.787A>G, XM_017004172.1:c.787A>G, XM_017004175.3:c.787A>G, XM_017004175.2:c.787A>G, XM_017004175.1:c.787A>G, XM_005246583.2:c.787A>G, XM_005246583.1:c.787A>G, XM_024452917.2:c.787A>G, XM_024452917.1:c.787A>G, XM_017004173.2:c.787A>G, XM_017004173.1:c.787A>G, XM_017004176.2:c.787A>G, XM_017004176.1:c.787A>G, NM_001321312.2:c.787A>G, NM_001321312.1:c.787A>G, XM_005246582.2:c.787A>G, XM_005246582.1:c.787A>G, XM_017004170.2:c.787A>G, XM_017004170.1:c.787A>G, XM_047444442.1:c.787A>G, XM_047444452.1:c.787A>G, XM_047444451.1:c.787A>G, XM_047444468.1:c.787A>G, XM_047444453.1:c.787A>G, XM_047444454.1:c.787A>G, XM_047444456.1:c.787A>G, XM_047444467.1:c.787A>G, XM_047444443.1:c.787A>G, XM_047444457.1:c.787A>G, XM_047444469.1:c.787A>G, XM_047444476.1:c.787A>G, XM_047444460.1:c.787A>G, XM_047444448.1:c.787A>G, XM_047444461.1:c.787A>G, XM_047444447.1:c.787A>G, XM_047444444.1:c.787A>G, XM_047444446.1:c.787A>G, XM_047444459.1:c.787A>G, XM_047444445.1:c.787A>G, XM_047444458.1:c.787A>G, XM_047444470.1:c.787A>G, XM_047444471.1:c.787A>G, XM_047444466.1:c.787A>G, XM_047444472.1:c.787A>G, XM_047444465.1:c.787A>G, XM_047444450.1:c.787A>G, XM_047444449.1:c.787A>G, XM_047444462.1:c.787A>G, XM_047444464.1:c.787A>G, XM_047444473.1:c.787A>G, XM_047444474.1:c.787A>G, NM_001321313.1:c.787A>G, XM_017004174.1:c.787A>G, NM_001321314.1:c.787A>G, XM_047444475.1:c.787A>G, NM_001321315.1:c.787A>G, NP_005957.2:p.Arg263Gly, XP_011509521.1:p.Arg263Gly, XP_016859661.1:p.Arg263Gly, XP_016859664.1:p.Arg263Gly, XP_005246640.1:p.Arg263Gly, XP_024308685.1:p.Arg263Gly, XP_016859662.1:p.Arg263Gly, XP_016859665.1:p.Arg263Gly, NP_001308241.1:p.Arg263Gly, XP_005246639.1:p.Arg263Gly, XP_016859659.1:p.Arg263Gly, XP_047300398.1:p.Arg263Gly, XP_047300408.1:p.Arg263Gly, XP_047300407.1:p.Arg263Gly, XP_047300424.1:p.Arg263Gly, XP_047300409.1:p.Arg263Gly, XP_047300410.1:p.Arg263Gly, XP_047300412.1:p.Arg263Gly, XP_047300423.1:p.Arg263Gly, XP_047300399.1:p.Arg263Gly, XP_047300413.1:p.Arg263Gly, XP_047300425.1:p.Arg263Gly, XP_047300432.1:p.Arg263Gly, XP_047300416.1:p.Arg263Gly, XP_047300404.1:p.Arg263Gly, XP_047300417.1:p.Arg263Gly, XP_047300403.1:p.Arg263Gly, XP_047300400.1:p.Arg263Gly, XP_047300402.1:p.Arg263Gly, XP_047300415.1:p.Arg263Gly, XP_047300401.1:p.Arg263Gly, XP_047300414.1:p.Arg263Gly, XP_047300426.1:p.Arg263Gly, XP_047300427.1:p.Arg263Gly, XP_047300422.1:p.Arg263Gly, XP_047300428.1:p.Arg263Gly, XP_047300421.1:p.Arg263Gly, XP_047300406.1:p.Arg263Gly, XP_047300405.1:p.Arg263Gly, XP_047300418.1:p.Arg263Gly, XP_047300420.1:p.Arg263Gly, XP_047300429.1:p.Arg263Gly, XP_047300430.1:p.Arg263Gly, NP_001308242.1:p.Arg263Gly, XP_016859663.1:p.Arg263Gly, NP_001308243.1:p.Arg263Gly, XP_047300431.1:p.Arg263Gly, NP_001308244.1:p.Arg263Gly

                                        20.

                                        rs1438116392 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          2:190659387 (GRCh38)
                                          2:191524113 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:190659386:G:A
                                          Gene:
                                          NAB1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000021/3 (GnomAD)
                                          HGVS:
                                          NC_000002.12:g.190659387G>A, NC_000002.11:g.191524113G>A, NM_005966.4:c.211G>A, NM_005966.3:c.211G>A, XM_011511219.4:c.211G>A, XM_011511219.3:c.211G>A, XM_011511219.2:c.211G>A, XM_011511219.1:c.211G>A, XM_017004172.3:c.211G>A, XM_017004172.2:c.211G>A, XM_017004172.1:c.211G>A, XM_017004175.3:c.211G>A, XM_017004175.2:c.211G>A, XM_017004175.1:c.211G>A, XM_005246583.2:c.211G>A, XM_005246583.1:c.211G>A, XM_024452917.2:c.211G>A, XM_024452917.1:c.211G>A, XM_017004173.2:c.211G>A, XM_017004173.1:c.211G>A, XM_017004176.2:c.211G>A, XM_017004176.1:c.211G>A, NM_001321312.2:c.211G>A, NM_001321312.1:c.211G>A, XM_005246582.2:c.211G>A, XM_005246582.1:c.211G>A, XM_017004170.2:c.211G>A, XM_017004170.1:c.211G>A, XM_047444442.1:c.211G>A, XM_047444452.1:c.211G>A, XM_047444451.1:c.211G>A, XM_047444468.1:c.211G>A, XM_047444453.1:c.211G>A, XM_047444454.1:c.211G>A, XM_047444456.1:c.211G>A, XM_047444467.1:c.211G>A, XM_047444443.1:c.211G>A, XM_047444457.1:c.211G>A, XM_047444469.1:c.211G>A, XM_047444476.1:c.211G>A, XM_047444460.1:c.211G>A, XM_047444448.1:c.211G>A, XM_047444461.1:c.211G>A, XM_047444447.1:c.211G>A, XM_047444444.1:c.211G>A, XM_047444446.1:c.211G>A, XM_047444459.1:c.211G>A, XM_047444445.1:c.211G>A, XM_047444458.1:c.211G>A, XM_047444470.1:c.211G>A, XM_047444471.1:c.211G>A, XM_047444466.1:c.211G>A, XM_047444472.1:c.211G>A, XM_047444465.1:c.211G>A, XM_047444450.1:c.211G>A, XM_047444449.1:c.211G>A, XM_047444462.1:c.211G>A, XM_047444464.1:c.211G>A, XM_047444473.1:c.211G>A, XM_047444474.1:c.211G>A, NM_001321313.1:c.211G>A, XM_017004174.1:c.211G>A, NM_001321314.1:c.211G>A, XM_047444475.1:c.211G>A, NM_001321315.1:c.211G>A, NP_005957.2:p.Ala71Thr, XP_011509521.1:p.Ala71Thr, XP_016859661.1:p.Ala71Thr, XP_016859664.1:p.Ala71Thr, XP_005246640.1:p.Ala71Thr, XP_024308685.1:p.Ala71Thr, XP_016859662.1:p.Ala71Thr, XP_016859665.1:p.Ala71Thr, NP_001308241.1:p.Ala71Thr, XP_005246639.1:p.Ala71Thr, XP_016859659.1:p.Ala71Thr, XP_047300398.1:p.Ala71Thr, XP_047300408.1:p.Ala71Thr, XP_047300407.1:p.Ala71Thr, XP_047300424.1:p.Ala71Thr, XP_047300409.1:p.Ala71Thr, XP_047300410.1:p.Ala71Thr, XP_047300412.1:p.Ala71Thr, XP_047300423.1:p.Ala71Thr, XP_047300399.1:p.Ala71Thr, XP_047300413.1:p.Ala71Thr, XP_047300425.1:p.Ala71Thr, XP_047300432.1:p.Ala71Thr, XP_047300416.1:p.Ala71Thr, XP_047300404.1:p.Ala71Thr, XP_047300417.1:p.Ala71Thr, XP_047300403.1:p.Ala71Thr, XP_047300400.1:p.Ala71Thr, XP_047300402.1:p.Ala71Thr, XP_047300415.1:p.Ala71Thr, XP_047300401.1:p.Ala71Thr, XP_047300414.1:p.Ala71Thr, XP_047300426.1:p.Ala71Thr, XP_047300427.1:p.Ala71Thr, XP_047300422.1:p.Ala71Thr, XP_047300428.1:p.Ala71Thr, XP_047300421.1:p.Ala71Thr, XP_047300406.1:p.Ala71Thr, XP_047300405.1:p.Ala71Thr, XP_047300418.1:p.Ala71Thr, XP_047300420.1:p.Ala71Thr, XP_047300429.1:p.Ala71Thr, XP_047300430.1:p.Ala71Thr, NP_001308242.1:p.Ala71Thr, XP_016859663.1:p.Ala71Thr, NP_001308243.1:p.Ala71Thr, XP_047300431.1:p.Ala71Thr, NP_001308244.1:p.Ala71Thr

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