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1.

rs1489708505 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    2:96612500 (GRCh38)
    2:97278237 (GRCh37)
    Canonical SPDI:
    NC_000002.12:96612499:C:T
    Gene:
    KANSL3 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000002.12:g.96612500C>T, NC_000002.11:g.97278237C>T, NM_017991.4:c.715G>A, XM_011511457.4:c.976G>A, XM_011511457.3:c.976G>A, XM_011511457.2:c.976G>A, XM_011511457.1:c.976G>A, XM_011511455.4:c.976G>A, XM_011511455.3:c.976G>A, XM_011511455.2:c.976G>A, XM_011511455.1:c.976G>A, XM_011511456.4:c.976G>A, XM_011511456.3:c.976G>A, XM_011511456.2:c.976G>A, XM_011511456.1:c.976G>A, XM_011511454.4:c.976G>A, XM_011511454.3:c.976G>A, XM_011511454.2:c.976G>A, XM_011511454.1:c.976G>A, XM_011511458.4:c.976G>A, XM_011511458.3:c.976G>A, XM_011511458.2:c.976G>A, XM_011511458.1:c.976G>A, XM_011511459.4:c.976G>A, XM_011511459.3:c.976G>A, XM_011511459.2:c.976G>A, XM_011511459.1:c.976G>A, XM_011511460.4:c.976G>A, XM_011511460.3:c.976G>A, XM_011511460.2:c.976G>A, XM_011511460.1:c.976G>A, XM_011511461.4:c.976G>A, XM_011511461.3:c.976G>A, XM_011511461.2:c.976G>A, XM_011511461.1:c.976G>A, XM_011511462.4:c.805G>A, XM_011511462.3:c.805G>A, XM_011511462.2:c.805G>A, XM_011511462.1:c.805G>A, NM_017991.3:c.715G>A, NM_001115016.3:c.976G>A, NM_001115016.2:c.976G>A, NM_001349259.2:c.715G>A, NM_001349259.1:c.715G>A, NM_001349257.2:c.976G>A, NM_001349257.1:c.976G>A, NM_001349258.2:c.976G>A, NM_001349258.1:c.976G>A, NR_047653.2:n.1117G>A, NR_047653.1:n.1184G>A, NR_047654.2:n.1117G>A, NR_047654.1:n.1184G>A, NM_001349261.2:c.292G>A, NM_001349261.1:c.292G>A, XM_005263987.2:c.976G>A, XM_005263987.1:c.976G>A, NR_047655.2:n.965G>A, NR_047655.1:n.1032G>A, NM_001349260.2:c.358G>A, NM_001349260.1:c.358G>A, NR_146099.2:n.1117G>A, NR_146099.1:n.1184G>A, NR_047656.2:n.965G>A, NR_047656.1:n.1032G>A, NM_017991.2:c.640G>A, NR_047657.2:n.1056G>A, NR_047657.1:n.1123G>A, NR_146101.2:n.965G>A, NR_146101.1:n.1032G>A, NR_146102.2:n.1018G>A, NR_146102.1:n.1085G>A, NM_001349262.2:c.292G>A, NM_001349262.1:c.292G>A, NR_146098.2:n.1056G>A, NR_146098.1:n.1123G>A, NR_146100.2:n.965G>A, NR_146100.1:n.1032G>A, NR_047658.2:n.1031G>A, NR_047658.1:n.1100G>A, NM_001349256.2:c.976G>A, NM_001349256.1:c.976G>A, XM_047445028.1:c.976G>A, XM_047444998.1:c.976G>A, XM_047445024.1:c.976G>A, XM_047445030.1:c.976G>A, XM_047445012.1:c.976G>A, XM_047445015.1:c.976G>A, XM_047445018.1:c.976G>A, XM_047445013.1:c.976G>A, XM_047445021.1:c.976G>A, XM_047445031.1:c.976G>A, XM_047445032.1:c.805G>A, XM_047445033.1:c.805G>A, XM_047445048.1:c.292G>A, XM_047445047.1:c.292G>A, XM_047445007.1:c.976G>A, XM_047445006.1:c.976G>A, XM_047445010.1:c.976G>A, XM_047444995.1:c.976G>A, XM_047444996.1:c.976G>A, XM_047445005.1:c.976G>A, XM_047445034.1:c.577G>A, XM_047445042.1:c.358G>A, XM_047445043.1:c.292G>A, XM_047445039.1:c.976G>A, XM_047445035.1:c.976G>A, XM_047445046.1:c.292G>A, NM_017991.1:c.715G>A, XM_047445049.1:c.976G>A, XM_047445052.1:c.976G>A, XP_011509759.1:p.Glu326Lys, XP_011509757.1:p.Glu326Lys, XP_011509758.1:p.Glu326Lys, XP_011509756.1:p.Glu326Lys, XP_011509760.1:p.Glu326Lys, XP_011509761.1:p.Glu326Lys, XP_011509762.1:p.Glu326Lys, XP_011509763.1:p.Glu326Lys, XP_011509764.1:p.Glu269Lys, NP_001108488.1:p.Glu326Lys, NP_001336188.1:p.Glu239Lys, NP_001336186.1:p.Glu326Lys, NP_001336187.1:p.Glu326Lys, NP_001336190.1:p.Glu98Lys, XP_005264044.1:p.Glu326Lys, NP_001336189.1:p.Glu120Lys, NP_001336191.1:p.Glu98Lys, NP_001336185.1:p.Glu326Lys, XP_047300984.1:p.Glu326Lys, XP_047300954.1:p.Glu326Lys, XP_047300980.1:p.Glu326Lys, XP_047300986.1:p.Glu326Lys, XP_047300968.1:p.Glu326Lys, XP_047300971.1:p.Glu326Lys, XP_047300974.1:p.Glu326Lys, XP_047300969.1:p.Glu326Lys, XP_047300977.1:p.Glu326Lys, XP_047300987.1:p.Glu326Lys, XP_047300988.1:p.Glu269Lys, XP_047300989.1:p.Glu269Lys, XP_047301004.1:p.Glu98Lys, XP_047301003.1:p.Glu98Lys, XP_047300963.1:p.Glu326Lys, XP_047300962.1:p.Glu326Lys, XP_047300966.1:p.Glu326Lys, XP_047300951.1:p.Glu326Lys, XP_047300952.1:p.Glu326Lys, XP_047300961.1:p.Glu326Lys, XP_047300990.1:p.Glu193Lys, XP_047300998.1:p.Glu120Lys, XP_047300999.1:p.Glu98Lys, XP_047300995.1:p.Glu326Lys, XP_047300991.1:p.Glu326Lys, XP_047301002.1:p.Glu98Lys, XP_047301005.1:p.Glu326Lys, XP_047301008.1:p.Glu326Lys

    2.

    rs1486471705 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      2:96608605 (GRCh38)
      2:97274342 (GRCh37)
      Canonical SPDI:
      NC_000002.12:96608604:C:G,NC_000002.12:96608604:C:T
      Gene:
      KANSL3 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by cluster
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.96608605C>G, NC_000002.12:g.96608605C>T, NC_000002.11:g.97274342C>G, NC_000002.11:g.97274342C>T, NG_082597.1:g.716C>G, NG_082597.1:g.716C>T, NM_017991.4:c.1383G>C, NM_017991.4:c.1383G>A, XM_011511457.4:c.1644G>C, XM_011511457.4:c.1644G>A, XM_011511457.3:c.1644G>C, XM_011511457.3:c.1644G>A, XM_011511457.2:c.1644G>C, XM_011511457.2:c.1644G>A, XM_011511457.1:c.1644G>C, XM_011511457.1:c.1644G>A, XM_011511455.4:c.1644G>C, XM_011511455.4:c.1644G>A, XM_011511455.3:c.1644G>C, XM_011511455.3:c.1644G>A, XM_011511455.2:c.1644G>C, XM_011511455.2:c.1644G>A, XM_011511455.1:c.1644G>C, XM_011511455.1:c.1644G>A, XM_011511456.4:c.1644G>C, XM_011511456.4:c.1644G>A, XM_011511456.3:c.1644G>C, XM_011511456.3:c.1644G>A, XM_011511456.2:c.1644G>C, XM_011511456.2:c.1644G>A, XM_011511456.1:c.1644G>C, XM_011511456.1:c.1644G>A, XM_011511454.4:c.1644G>C, XM_011511454.4:c.1644G>A, XM_011511454.3:c.1644G>C, XM_011511454.3:c.1644G>A, XM_011511454.2:c.1644G>C, XM_011511454.2:c.1644G>A, XM_011511454.1:c.1644G>C, XM_011511454.1:c.1644G>A, XM_011511458.4:c.1644G>C, XM_011511458.4:c.1644G>A, XM_011511458.3:c.1644G>C, XM_011511458.3:c.1644G>A, XM_011511458.2:c.1644G>C, XM_011511458.2:c.1644G>A, XM_011511458.1:c.1644G>C, XM_011511458.1:c.1644G>A, XM_011511459.4:c.1569G>C, XM_011511459.4:c.1569G>A, XM_011511459.3:c.1569G>C, XM_011511459.3:c.1569G>A, XM_011511459.2:c.1569G>C, XM_011511459.2:c.1569G>A, XM_011511459.1:c.1569G>C, XM_011511459.1:c.1569G>A, XM_011511460.4:c.1644G>C, XM_011511460.4:c.1644G>A, XM_011511460.3:c.1644G>C, XM_011511460.3:c.1644G>A, XM_011511460.2:c.1644G>C, XM_011511460.2:c.1644G>A, XM_011511460.1:c.1644G>C, XM_011511460.1:c.1644G>A, XM_011511461.4:c.1644G>C, XM_011511461.4:c.1644G>A, XM_011511461.3:c.1644G>C, XM_011511461.3:c.1644G>A, XM_011511461.2:c.1644G>C, XM_011511461.2:c.1644G>A, XM_011511461.1:c.1644G>C, XM_011511461.1:c.1644G>A, XM_011511462.4:c.1473G>C, XM_011511462.4:c.1473G>A, XM_011511462.3:c.1473G>C, XM_011511462.3:c.1473G>A, XM_011511462.2:c.1473G>C, XM_011511462.2:c.1473G>A, XM_011511462.1:c.1473G>C, XM_011511462.1:c.1473G>A, NM_017991.3:c.1383G>C, NM_017991.3:c.1383G>A, NM_001115016.3:c.1644G>C, NM_001115016.3:c.1644G>A, NM_001115016.2:c.1644G>C, NM_001115016.2:c.1644G>A, NM_001349259.2:c.1383G>C, NM_001349259.2:c.1383G>A, NM_001349259.1:c.1383G>C, NM_001349259.1:c.1383G>A, NM_001349257.2:c.1644G>C, NM_001349257.2:c.1644G>A, NM_001349257.1:c.1644G>C, NM_001349257.1:c.1644G>A, NM_001349258.2:c.1644G>C, NM_001349258.2:c.1644G>A, NM_001349258.1:c.1644G>C, NM_001349258.1:c.1644G>A, NR_047653.2:n.1785G>C, NR_047653.2:n.1785G>A, NR_047653.1:n.1852G>C, NR_047653.1:n.1852G>A, NR_047654.2:n.1785G>C, NR_047654.2:n.1785G>A, NR_047654.1:n.1852G>C, NR_047654.1:n.1852G>A, NM_001349261.2:c.960G>C, NM_001349261.2:c.960G>A, NM_001349261.1:c.960G>C, NM_001349261.1:c.960G>A, XM_005263987.2:c.1644G>C, XM_005263987.2:c.1644G>A, XM_005263987.1:c.1644G>C, XM_005263987.1:c.1644G>A, NR_047655.2:n.1633G>C, NR_047655.2:n.1633G>A, NR_047655.1:n.1700G>C, NR_047655.1:n.1700G>A, NM_001349260.2:c.1026G>C, NM_001349260.2:c.1026G>A, NM_001349260.1:c.1026G>C, NM_001349260.1:c.1026G>A, NR_146099.2:n.1785G>C, NR_146099.2:n.1785G>A, NR_146099.1:n.1852G>C, NR_146099.1:n.1852G>A, NR_047656.2:n.1633G>C, NR_047656.2:n.1633G>A, NR_047656.1:n.1700G>C, NR_047656.1:n.1700G>A, NM_017991.2:c.1308G>C, NM_017991.2:c.1308G>A, NR_047657.2:n.1724G>C, NR_047657.2:n.1724G>A, NR_047657.1:n.1791G>C, NR_047657.1:n.1791G>A, NR_146101.2:n.1633G>C, NR_146101.2:n.1633G>A, NR_146101.1:n.1700G>C, NR_146101.1:n.1700G>A, NR_146102.2:n.1686G>C, NR_146102.2:n.1686G>A, NR_146102.1:n.1753G>C, NR_146102.1:n.1753G>A, NM_001349262.2:c.960G>C, NM_001349262.2:c.960G>A, NM_001349262.1:c.960G>C, NM_001349262.1:c.960G>A, NR_146098.2:n.1724G>C, NR_146098.2:n.1724G>A, NR_146098.1:n.1791G>C, NR_146098.1:n.1791G>A, NR_146100.2:n.1633G>C, NR_146100.2:n.1633G>A, NR_146100.1:n.1700G>C, NR_146100.1:n.1700G>A, NR_047658.2:n.1699G>C, NR_047658.2:n.1699G>A, NR_047658.1:n.1768G>C, NR_047658.1:n.1768G>A, NM_001349256.2:c.1644G>C, NM_001349256.2:c.1644G>A, NM_001349256.1:c.1644G>C, NM_001349256.1:c.1644G>A, XM_047445028.1:c.1644G>C, XM_047445028.1:c.1644G>A, XM_047444998.1:c.1644G>C, XM_047444998.1:c.1644G>A, XM_047445024.1:c.1644G>C, XM_047445024.1:c.1644G>A, XM_047445030.1:c.1644G>C, XM_047445030.1:c.1644G>A, XM_047445012.1:c.1644G>C, XM_047445012.1:c.1644G>A, XM_047445015.1:c.1644G>C, XM_047445015.1:c.1644G>A, XM_047445018.1:c.1644G>C, XM_047445018.1:c.1644G>A, XM_047445013.1:c.1644G>C, XM_047445013.1:c.1644G>A, XM_047445021.1:c.1644G>C, XM_047445021.1:c.1644G>A, XM_047445031.1:c.1569G>C, XM_047445031.1:c.1569G>A, XM_047445032.1:c.1473G>C, XM_047445032.1:c.1473G>A, XM_047445033.1:c.1473G>C, XM_047445033.1:c.1473G>A, XM_047445048.1:c.960G>C, XM_047445048.1:c.960G>A, XM_047445047.1:c.960G>C, XM_047445047.1:c.960G>A, XM_047445007.1:c.1644G>C, XM_047445007.1:c.1644G>A, XM_047445006.1:c.1644G>C, XM_047445006.1:c.1644G>A, XM_047445010.1:c.1644G>C, XM_047445010.1:c.1644G>A, XM_047444995.1:c.1644G>C, XM_047444995.1:c.1644G>A, XM_047444996.1:c.1644G>C, XM_047444996.1:c.1644G>A, XM_047445005.1:c.1644G>C, XM_047445005.1:c.1644G>A, XM_047445034.1:c.1245G>C, XM_047445034.1:c.1245G>A, XM_047445042.1:c.1026G>C, XM_047445042.1:c.1026G>A, XM_047445043.1:c.960G>C, XM_047445043.1:c.960G>A, XM_047445039.1:c.1644G>C, XM_047445039.1:c.1644G>A, XM_047445035.1:c.1644G>C, XM_047445035.1:c.1644G>A, XM_047445046.1:c.960G>C, XM_047445046.1:c.960G>A, NM_017991.1:c.1383G>C, NM_017991.1:c.1383G>A, XM_047445049.1:c.1644G>C, XM_047445049.1:c.1644G>A, XM_047445052.1:c.1644G>C, XM_047445052.1:c.1644G>A

      3.

      rs1485494318 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,T [Show Flanks]
        Chromosome:
        2:96637039 (GRCh38)
        2:97302776 (GRCh37)
        Canonical SPDI:
        NC_000002.12:96637038:C:A,NC_000002.12:96637038:C:T
        Gene:
        KANSL3 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by cluster
        HGVS:
        NC_000002.12:g.96637039C>A, NC_000002.12:g.96637039C>T, NC_000002.11:g.97302776C>A, NC_000002.11:g.97302776C>T, NM_017991.4:c.-226G>T, NM_017991.4:c.-226G>A, XM_011511457.4:c.97G>T, XM_011511457.4:c.97G>A, XM_011511457.3:c.97G>T, XM_011511457.3:c.97G>A, XM_011511457.2:c.97G>T, XM_011511457.2:c.97G>A, XM_011511457.1:c.97G>T, XM_011511457.1:c.97G>A, XM_011511455.4:c.97G>T, XM_011511455.4:c.97G>A, XM_011511455.3:c.97G>T, XM_011511455.3:c.97G>A, XM_011511455.2:c.97G>T, XM_011511455.2:c.97G>A, XM_011511455.1:c.97G>T, XM_011511455.1:c.97G>A, XM_011511456.4:c.97G>T, XM_011511456.4:c.97G>A, XM_011511456.3:c.97G>T, XM_011511456.3:c.97G>A, XM_011511456.2:c.97G>T, XM_011511456.2:c.97G>A, XM_011511456.1:c.97G>T, XM_011511456.1:c.97G>A, XM_011511454.4:c.97G>T, XM_011511454.4:c.97G>A, XM_011511454.3:c.97G>T, XM_011511454.3:c.97G>A, XM_011511454.2:c.97G>T, XM_011511454.2:c.97G>A, XM_011511454.1:c.97G>T, XM_011511454.1:c.97G>A, XM_011511458.4:c.97G>T, XM_011511458.4:c.97G>A, XM_011511458.3:c.97G>T, XM_011511458.3:c.97G>A, XM_011511458.2:c.97G>T, XM_011511458.2:c.97G>A, XM_011511458.1:c.97G>T, XM_011511458.1:c.97G>A, XM_011511459.4:c.97G>T, XM_011511459.4:c.97G>A, XM_011511459.3:c.97G>T, XM_011511459.3:c.97G>A, XM_011511459.2:c.97G>T, XM_011511459.2:c.97G>A, XM_011511459.1:c.97G>T, XM_011511459.1:c.97G>A, XM_011511460.4:c.97G>T, XM_011511460.4:c.97G>A, XM_011511460.3:c.97G>T, XM_011511460.3:c.97G>A, XM_011511460.2:c.97G>T, XM_011511460.2:c.97G>A, XM_011511460.1:c.97G>T, XM_011511460.1:c.97G>A, XM_011511461.4:c.97G>T, XM_011511461.4:c.97G>A, XM_011511461.3:c.97G>T, XM_011511461.3:c.97G>A, XM_011511461.2:c.97G>T, XM_011511461.2:c.97G>A, XM_011511461.1:c.97G>T, XM_011511461.1:c.97G>A, XM_011511462.4:c.97G>T, XM_011511462.4:c.97G>A, XM_011511462.3:c.97G>T, XM_011511462.3:c.97G>A, XM_011511462.2:c.97G>T, XM_011511462.2:c.97G>A, XM_011511462.1:c.97G>T, XM_011511462.1:c.97G>A, NM_017991.3:c.-226G>T, NM_017991.3:c.-226G>A, NM_001115016.3:c.97G>T, NM_001115016.3:c.97G>A, NM_001115016.2:c.97G>T, NM_001115016.2:c.97G>A, NM_001349259.2:c.-226G>T, NM_001349259.2:c.-226G>A, NM_001349259.1:c.-226G>T, NM_001349259.1:c.-226G>A, NM_001349257.2:c.97G>T, NM_001349257.2:c.97G>A, NM_001349257.1:c.97G>T, NM_001349257.1:c.97G>A, NM_001349258.2:c.97G>T, NM_001349258.2:c.97G>A, NM_001349258.1:c.97G>T, NM_001349258.1:c.97G>A, NR_047653.2:n.177G>T, NR_047653.2:n.177G>A, NR_047653.1:n.244G>T, NR_047653.1:n.244G>A, NR_047654.2:n.177G>T, NR_047654.2:n.177G>A, NR_047654.1:n.244G>T, NR_047654.1:n.244G>A, NM_001349261.2:c.-550G>T, NM_001349261.2:c.-550G>A, NM_001349261.1:c.-550G>T, NM_001349261.1:c.-550G>A, XM_005263987.2:c.97G>T, XM_005263987.2:c.97G>A, XM_005263987.1:c.97G>T, XM_005263987.1:c.97G>A, NR_047655.2:n.177G>T, NR_047655.2:n.177G>A, NR_047655.1:n.244G>T, NR_047655.1:n.244G>A, NM_001349260.2:c.-431G>T, NM_001349260.2:c.-431G>A, NM_001349260.1:c.-431G>T, NM_001349260.1:c.-431G>A, NR_146099.2:n.177G>T, NR_146099.2:n.177G>A, NR_146099.1:n.244G>T, NR_146099.1:n.244G>A, NR_047656.2:n.177G>T, NR_047656.2:n.177G>A, NR_047656.1:n.244G>T, NR_047656.1:n.244G>A, NR_047657.2:n.177G>T, NR_047657.2:n.177G>A, NR_047657.1:n.244G>T, NR_047657.1:n.244G>A, NR_146101.2:n.177G>T, NR_146101.2:n.177G>A, NR_146101.1:n.244G>T, NR_146101.1:n.244G>A, NR_146102.2:n.177G>T, NR_146102.2:n.177G>A, NR_146102.1:n.244G>T, NR_146102.1:n.244G>A, NM_001349262.2:c.-311G>T, NM_001349262.2:c.-311G>A, NM_001349262.1:c.-311G>T, NM_001349262.1:c.-311G>A, NR_146098.2:n.177G>T, NR_146098.2:n.177G>A, NR_146098.1:n.244G>T, NR_146098.1:n.244G>A, NR_146100.2:n.177G>T, NR_146100.2:n.177G>A, NR_146100.1:n.244G>T, NR_146100.1:n.244G>A, NR_047658.2:n.190G>T, NR_047658.2:n.190G>A, NR_047658.1:n.259G>T, NR_047658.1:n.259G>A, NM_001349256.2:c.97G>T, NM_001349256.2:c.97G>A, NM_001349256.1:c.97G>T, NM_001349256.1:c.97G>A, XM_047445028.1:c.97G>T, XM_047445028.1:c.97G>A, XM_047444998.1:c.97G>T, XM_047444998.1:c.97G>A, XM_047445024.1:c.97G>T, XM_047445024.1:c.97G>A, XM_047445030.1:c.97G>T, XM_047445030.1:c.97G>A, XM_047445012.1:c.97G>T, XM_047445012.1:c.97G>A, XM_047445015.1:c.97G>T, XM_047445015.1:c.97G>A, XM_047445018.1:c.97G>T, XM_047445018.1:c.97G>A, XM_047445013.1:c.97G>T, XM_047445013.1:c.97G>A, XM_047445021.1:c.97G>T, XM_047445021.1:c.97G>A, XM_047445031.1:c.97G>T, XM_047445031.1:c.97G>A, XM_047445032.1:c.97G>T, XM_047445032.1:c.97G>A, XM_047445033.1:c.97G>T, XM_047445033.1:c.97G>A, XM_047445007.1:c.97G>T, XM_047445007.1:c.97G>A, XM_047445006.1:c.97G>T, XM_047445006.1:c.97G>A, XM_047445010.1:c.97G>T, XM_047445010.1:c.97G>A, XM_047444995.1:c.97G>T, XM_047444995.1:c.97G>A, XM_047444996.1:c.97G>T, XM_047444996.1:c.97G>A, XM_047445005.1:c.97G>T, XM_047445005.1:c.97G>A, XM_047445039.1:c.97G>T, XM_047445039.1:c.97G>A, XM_047445035.1:c.97G>T, XM_047445035.1:c.97G>A, XM_047445049.1:c.97G>T, XM_047445049.1:c.97G>A, XM_047445052.1:c.97G>T, XM_047445052.1:c.97G>A, XP_011509759.1:p.Asp33Tyr, XP_011509759.1:p.Asp33Asn, XP_011509757.1:p.Asp33Tyr, XP_011509757.1:p.Asp33Asn, XP_011509758.1:p.Asp33Tyr, XP_011509758.1:p.Asp33Asn, XP_011509756.1:p.Asp33Tyr, XP_011509756.1:p.Asp33Asn, XP_011509760.1:p.Asp33Tyr, XP_011509760.1:p.Asp33Asn, XP_011509761.1:p.Asp33Tyr, XP_011509761.1:p.Asp33Asn, XP_011509762.1:p.Asp33Tyr, XP_011509762.1:p.Asp33Asn, XP_011509763.1:p.Asp33Tyr, XP_011509763.1:p.Asp33Asn, XP_011509764.1:p.Asp33Tyr, XP_011509764.1:p.Asp33Asn, NP_001108488.1:p.Asp33Tyr, NP_001108488.1:p.Asp33Asn, NP_001336186.1:p.Asp33Tyr, NP_001336186.1:p.Asp33Asn, NP_001336187.1:p.Asp33Tyr, NP_001336187.1:p.Asp33Asn, XP_005264044.1:p.Asp33Tyr, XP_005264044.1:p.Asp33Asn, NP_001336185.1:p.Asp33Tyr, NP_001336185.1:p.Asp33Asn, XP_047300984.1:p.Asp33Tyr, XP_047300984.1:p.Asp33Asn, XP_047300954.1:p.Asp33Tyr, XP_047300954.1:p.Asp33Asn, XP_047300980.1:p.Asp33Tyr, XP_047300980.1:p.Asp33Asn, XP_047300986.1:p.Asp33Tyr, XP_047300986.1:p.Asp33Asn, XP_047300968.1:p.Asp33Tyr, XP_047300968.1:p.Asp33Asn, XP_047300971.1:p.Asp33Tyr, XP_047300971.1:p.Asp33Asn, XP_047300974.1:p.Asp33Tyr, XP_047300974.1:p.Asp33Asn, XP_047300969.1:p.Asp33Tyr, XP_047300969.1:p.Asp33Asn, XP_047300977.1:p.Asp33Tyr, XP_047300977.1:p.Asp33Asn, XP_047300987.1:p.Asp33Tyr, XP_047300987.1:p.Asp33Asn, XP_047300988.1:p.Asp33Tyr, XP_047300988.1:p.Asp33Asn, XP_047300989.1:p.Asp33Tyr, XP_047300989.1:p.Asp33Asn, XP_047300963.1:p.Asp33Tyr, XP_047300963.1:p.Asp33Asn, XP_047300962.1:p.Asp33Tyr, XP_047300962.1:p.Asp33Asn, XP_047300966.1:p.Asp33Tyr, XP_047300966.1:p.Asp33Asn, XP_047300951.1:p.Asp33Tyr, XP_047300951.1:p.Asp33Asn, XP_047300952.1:p.Asp33Tyr, XP_047300952.1:p.Asp33Asn, XP_047300961.1:p.Asp33Tyr, XP_047300961.1:p.Asp33Asn, XP_047300995.1:p.Asp33Tyr, XP_047300995.1:p.Asp33Asn, XP_047300991.1:p.Asp33Tyr, XP_047300991.1:p.Asp33Asn, XP_047301005.1:p.Asp33Tyr, XP_047301005.1:p.Asp33Asn, XP_047301008.1:p.Asp33Tyr, XP_047301008.1:p.Asp33Asn

        4.

        rs1485121488 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          2:96612827 (GRCh38)
          2:97278564 (GRCh37)
          Canonical SPDI:
          NC_000002.12:96612826:G:A,NC_000002.12:96612826:G:C
          Gene:
          KANSL3 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000008/2 (TOPMED)
          C=0.000156/1 (1000Genomes)
          HGVS:
          NC_000002.12:g.96612827G>A, NC_000002.12:g.96612827G>C, NC_000002.11:g.97278564G>A, NC_000002.11:g.97278564G>C, NM_017991.4:c.642C>T, NM_017991.4:c.642C>G, XM_011511457.4:c.903C>T, XM_011511457.4:c.903C>G, XM_011511457.3:c.903C>T, XM_011511457.3:c.903C>G, XM_011511457.2:c.903C>T, XM_011511457.2:c.903C>G, XM_011511457.1:c.903C>T, XM_011511457.1:c.903C>G, XM_011511455.4:c.903C>T, XM_011511455.4:c.903C>G, XM_011511455.3:c.903C>T, XM_011511455.3:c.903C>G, XM_011511455.2:c.903C>T, XM_011511455.2:c.903C>G, XM_011511455.1:c.903C>T, XM_011511455.1:c.903C>G, XM_011511456.4:c.903C>T, XM_011511456.4:c.903C>G, XM_011511456.3:c.903C>T, XM_011511456.3:c.903C>G, XM_011511456.2:c.903C>T, XM_011511456.2:c.903C>G, XM_011511456.1:c.903C>T, XM_011511456.1:c.903C>G, XM_011511454.4:c.903C>T, XM_011511454.4:c.903C>G, XM_011511454.3:c.903C>T, XM_011511454.3:c.903C>G, XM_011511454.2:c.903C>T, XM_011511454.2:c.903C>G, XM_011511454.1:c.903C>T, XM_011511454.1:c.903C>G, XM_011511458.4:c.903C>T, XM_011511458.4:c.903C>G, XM_011511458.3:c.903C>T, XM_011511458.3:c.903C>G, XM_011511458.2:c.903C>T, XM_011511458.2:c.903C>G, XM_011511458.1:c.903C>T, XM_011511458.1:c.903C>G, XM_011511459.4:c.903C>T, XM_011511459.4:c.903C>G, XM_011511459.3:c.903C>T, XM_011511459.3:c.903C>G, XM_011511459.2:c.903C>T, XM_011511459.2:c.903C>G, XM_011511459.1:c.903C>T, XM_011511459.1:c.903C>G, XM_011511460.4:c.903C>T, XM_011511460.4:c.903C>G, XM_011511460.3:c.903C>T, XM_011511460.3:c.903C>G, XM_011511460.2:c.903C>T, XM_011511460.2:c.903C>G, XM_011511460.1:c.903C>T, XM_011511460.1:c.903C>G, XM_011511461.4:c.903C>T, XM_011511461.4:c.903C>G, XM_011511461.3:c.903C>T, XM_011511461.3:c.903C>G, XM_011511461.2:c.903C>T, XM_011511461.2:c.903C>G, XM_011511461.1:c.903C>T, XM_011511461.1:c.903C>G, XM_011511462.4:c.732C>T, XM_011511462.4:c.732C>G, XM_011511462.3:c.732C>T, XM_011511462.3:c.732C>G, XM_011511462.2:c.732C>T, XM_011511462.2:c.732C>G, XM_011511462.1:c.732C>T, XM_011511462.1:c.732C>G, NM_017991.3:c.642C>T, NM_017991.3:c.642C>G, NM_001115016.3:c.903C>T, NM_001115016.3:c.903C>G, NM_001115016.2:c.903C>T, NM_001115016.2:c.903C>G, NM_001349259.2:c.642C>T, NM_001349259.2:c.642C>G, NM_001349259.1:c.642C>T, NM_001349259.1:c.642C>G, NM_001349257.2:c.903C>T, NM_001349257.2:c.903C>G, NM_001349257.1:c.903C>T, NM_001349257.1:c.903C>G, NM_001349258.2:c.903C>T, NM_001349258.2:c.903C>G, NM_001349258.1:c.903C>T, NM_001349258.1:c.903C>G, NR_047653.2:n.1044C>T, NR_047653.2:n.1044C>G, NR_047653.1:n.1111C>T, NR_047653.1:n.1111C>G, NR_047654.2:n.1044C>T, NR_047654.2:n.1044C>G, NR_047654.1:n.1111C>T, NR_047654.1:n.1111C>G, NM_001349261.2:c.219C>T, NM_001349261.2:c.219C>G, NM_001349261.1:c.219C>T, NM_001349261.1:c.219C>G, XM_005263987.2:c.903C>T, XM_005263987.2:c.903C>G, XM_005263987.1:c.903C>T, XM_005263987.1:c.903C>G, NR_047655.2:n.892C>T, NR_047655.2:n.892C>G, NR_047655.1:n.959C>T, NR_047655.1:n.959C>G, NM_001349260.2:c.285C>T, NM_001349260.2:c.285C>G, NM_001349260.1:c.285C>T, NM_001349260.1:c.285C>G, NR_146099.2:n.1044C>T, NR_146099.2:n.1044C>G, NR_146099.1:n.1111C>T, NR_146099.1:n.1111C>G, NR_047656.2:n.892C>T, NR_047656.2:n.892C>G, NR_047656.1:n.959C>T, NR_047656.1:n.959C>G, NM_017991.2:c.567C>T, NM_017991.2:c.567C>G, NR_047657.2:n.983C>T, NR_047657.2:n.983C>G, NR_047657.1:n.1050C>T, NR_047657.1:n.1050C>G, NR_146101.2:n.892C>T, NR_146101.2:n.892C>G, NR_146101.1:n.959C>T, NR_146101.1:n.959C>G, NR_146102.2:n.945C>T, NR_146102.2:n.945C>G, NR_146102.1:n.1012C>T, NR_146102.1:n.1012C>G, NM_001349262.2:c.219C>T, NM_001349262.2:c.219C>G, NM_001349262.1:c.219C>T, NM_001349262.1:c.219C>G, NR_146098.2:n.983C>T, NR_146098.2:n.983C>G, NR_146098.1:n.1050C>T, NR_146098.1:n.1050C>G, NR_146100.2:n.892C>T, NR_146100.2:n.892C>G, NR_146100.1:n.959C>T, NR_146100.1:n.959C>G, NR_047658.2:n.958C>T, NR_047658.2:n.958C>G, NR_047658.1:n.1027C>T, NR_047658.1:n.1027C>G, NM_001349256.2:c.903C>T, NM_001349256.2:c.903C>G, NM_001349256.1:c.903C>T, NM_001349256.1:c.903C>G, XM_047445028.1:c.903C>T, XM_047445028.1:c.903C>G, XM_047444998.1:c.903C>T, XM_047444998.1:c.903C>G, XM_047445024.1:c.903C>T, XM_047445024.1:c.903C>G, XM_047445030.1:c.903C>T, XM_047445030.1:c.903C>G, XM_047445012.1:c.903C>T, XM_047445012.1:c.903C>G, XM_047445015.1:c.903C>T, XM_047445015.1:c.903C>G, XM_047445018.1:c.903C>T, XM_047445018.1:c.903C>G, XM_047445013.1:c.903C>T, XM_047445013.1:c.903C>G, XM_047445021.1:c.903C>T, XM_047445021.1:c.903C>G, XM_047445031.1:c.903C>T, XM_047445031.1:c.903C>G, XM_047445032.1:c.732C>T, XM_047445032.1:c.732C>G, XM_047445033.1:c.732C>T, XM_047445033.1:c.732C>G, XM_047445048.1:c.219C>T, XM_047445048.1:c.219C>G, XM_047445047.1:c.219C>T, XM_047445047.1:c.219C>G, XM_047445007.1:c.903C>T, XM_047445007.1:c.903C>G, XM_047445006.1:c.903C>T, XM_047445006.1:c.903C>G, XM_047445010.1:c.903C>T, XM_047445010.1:c.903C>G, XM_047444995.1:c.903C>T, XM_047444995.1:c.903C>G, XM_047444996.1:c.903C>T, XM_047444996.1:c.903C>G, XM_047445005.1:c.903C>T, XM_047445005.1:c.903C>G, XM_047445034.1:c.504C>T, XM_047445034.1:c.504C>G, XM_047445042.1:c.285C>T, XM_047445042.1:c.285C>G, XM_047445043.1:c.219C>T, XM_047445043.1:c.219C>G, XM_047445039.1:c.903C>T, XM_047445039.1:c.903C>G, XM_047445035.1:c.903C>T, XM_047445035.1:c.903C>G, XM_047445046.1:c.219C>T, XM_047445046.1:c.219C>G, NM_017991.1:c.642C>T, NM_017991.1:c.642C>G, XM_047445049.1:c.903C>T, XM_047445049.1:c.903C>G, XM_047445052.1:c.903C>T, XM_047445052.1:c.903C>G, XP_011509759.1:p.Cys301Trp, XP_011509757.1:p.Cys301Trp, XP_011509758.1:p.Cys301Trp, XP_011509756.1:p.Cys301Trp, XP_011509760.1:p.Cys301Trp, XP_011509761.1:p.Cys301Trp, XP_011509762.1:p.Cys301Trp, XP_011509763.1:p.Cys301Trp, XP_011509764.1:p.Cys244Trp, NP_001108488.1:p.Cys301Trp, NP_001336188.1:p.Cys214Trp, NP_001336186.1:p.Cys301Trp, NP_001336187.1:p.Cys301Trp, NP_001336190.1:p.Cys73Trp, XP_005264044.1:p.Cys301Trp, NP_001336189.1:p.Cys95Trp, NP_001336191.1:p.Cys73Trp, NP_001336185.1:p.Cys301Trp, XP_047300984.1:p.Cys301Trp, XP_047300954.1:p.Cys301Trp, XP_047300980.1:p.Cys301Trp, XP_047300986.1:p.Cys301Trp, XP_047300968.1:p.Cys301Trp, XP_047300971.1:p.Cys301Trp, XP_047300974.1:p.Cys301Trp, XP_047300969.1:p.Cys301Trp, XP_047300977.1:p.Cys301Trp, XP_047300987.1:p.Cys301Trp, XP_047300988.1:p.Cys244Trp, XP_047300989.1:p.Cys244Trp, XP_047301004.1:p.Cys73Trp, XP_047301003.1:p.Cys73Trp, XP_047300963.1:p.Cys301Trp, XP_047300962.1:p.Cys301Trp, XP_047300966.1:p.Cys301Trp, XP_047300951.1:p.Cys301Trp, XP_047300952.1:p.Cys301Trp, XP_047300961.1:p.Cys301Trp, XP_047300990.1:p.Cys168Trp, XP_047300998.1:p.Cys95Trp, XP_047300999.1:p.Cys73Trp, XP_047300995.1:p.Cys301Trp, XP_047300991.1:p.Cys301Trp, XP_047301002.1:p.Cys73Trp, XP_047301005.1:p.Cys301Trp, XP_047301008.1:p.Cys301Trp

          5.

          rs1484803964 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            2:96601707 (GRCh38)
            2:97267444 (GRCh37)
            Canonical SPDI:
            NC_000002.12:96601706:G:A,NC_000002.12:96601706:G:C
            Gene:
            KANSL3 (Varview)
            Functional Consequence:
            coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            C=0.000008/2 (TOPMED)
            C=0.000029/4 (GnomAD)
            HGVS:
            NC_000002.12:g.96601707G>A, NC_000002.12:g.96601707G>C, NC_000002.11:g.97267444G>A, NC_000002.11:g.97267444G>C, NM_017991.4:c.2291C>T, NM_017991.4:c.2291C>G, XM_011511457.4:c.2630C>T, XM_011511457.4:c.2630C>G, XM_011511457.3:c.2630C>T, XM_011511457.3:c.2630C>G, XM_011511457.2:c.2630C>T, XM_011511457.2:c.2630C>G, XM_011511457.1:c.2630C>T, XM_011511457.1:c.2630C>G, XM_011511455.4:c.2630C>T, XM_011511455.4:c.2630C>G, XM_011511455.3:c.2630C>T, XM_011511455.3:c.2630C>G, XM_011511455.2:c.2630C>T, XM_011511455.2:c.2630C>G, XM_011511455.1:c.2630C>T, XM_011511455.1:c.2630C>G, XM_011511456.4:c.2630C>T, XM_011511456.4:c.2630C>G, XM_011511456.3:c.2630C>T, XM_011511456.3:c.2630C>G, XM_011511456.2:c.2630C>T, XM_011511456.2:c.2630C>G, XM_011511456.1:c.2630C>T, XM_011511456.1:c.2630C>G, XM_011511454.4:c.2630C>T, XM_011511454.4:c.2630C>G, XM_011511454.3:c.2630C>T, XM_011511454.3:c.2630C>G, XM_011511454.2:c.2630C>T, XM_011511454.2:c.2630C>G, XM_011511454.1:c.2630C>T, XM_011511454.1:c.2630C>G, XM_011511458.4:c.2624C>T, XM_011511458.4:c.2624C>G, XM_011511458.3:c.2624C>T, XM_011511458.3:c.2624C>G, XM_011511458.2:c.2624C>T, XM_011511458.2:c.2624C>G, XM_011511458.1:c.2624C>T, XM_011511458.1:c.2624C>G, XM_011511459.4:c.2555C>T, XM_011511459.4:c.2555C>G, XM_011511459.3:c.2555C>T, XM_011511459.3:c.2555C>G, XM_011511459.2:c.2555C>T, XM_011511459.2:c.2555C>G, XM_011511459.1:c.2555C>T, XM_011511459.1:c.2555C>G, XM_011511460.4:c.2552C>T, XM_011511460.4:c.2552C>G, XM_011511460.3:c.2552C>T, XM_011511460.3:c.2552C>G, XM_011511460.2:c.2552C>T, XM_011511460.2:c.2552C>G, XM_011511460.1:c.2552C>T, XM_011511460.1:c.2552C>G, XM_011511461.4:c.2546C>T, XM_011511461.4:c.2546C>G, XM_011511461.3:c.2546C>T, XM_011511461.3:c.2546C>G, XM_011511461.2:c.2546C>T, XM_011511461.2:c.2546C>G, XM_011511461.1:c.2546C>T, XM_011511461.1:c.2546C>G, XM_011511462.4:c.2459C>T, XM_011511462.4:c.2459C>G, XM_011511462.3:c.2459C>T, XM_011511462.3:c.2459C>G, XM_011511462.2:c.2459C>T, XM_011511462.2:c.2459C>G, XM_011511462.1:c.2459C>T, XM_011511462.1:c.2459C>G, NM_017991.3:c.2291C>T, NM_017991.3:c.2291C>G, NM_001115016.3:c.2552C>T, NM_001115016.3:c.2552C>G, NM_001115016.2:c.2552C>T, NM_001115016.2:c.2552C>G, NM_001349259.2:c.2369C>T, NM_001349259.2:c.2369C>G, NM_001349259.1:c.2369C>T, NM_001349259.1:c.2369C>G, NM_001349257.2:c.2630C>T, NM_001349257.2:c.2630C>G, NM_001349257.1:c.2630C>T, NM_001349257.1:c.2630C>G, NM_001349258.2:c.2624C>T, NM_001349258.2:c.2624C>G, NM_001349258.1:c.2624C>T, NM_001349258.1:c.2624C>G, NR_047653.2:n.2693C>T, NR_047653.2:n.2693C>G, NR_047653.1:n.2760C>T, NR_047653.1:n.2760C>G, NR_047654.2:n.2687C>T, NR_047654.2:n.2687C>G, NR_047654.1:n.2754C>T, NR_047654.1:n.2754C>G, NM_001349261.2:c.1946C>T, NM_001349261.2:c.1946C>G, NM_001349261.1:c.1946C>T, NM_001349261.1:c.1946C>G, XM_005263987.2:c.2546C>T, XM_005263987.2:c.2546C>G, XM_005263987.1:c.2546C>T, XM_005263987.1:c.2546C>G, NR_047655.2:n.2619C>T, NR_047655.2:n.2619C>G, NR_047655.1:n.2686C>T, NR_047655.1:n.2686C>G, NM_001349260.2:c.1997C>T, NM_001349260.2:c.1997C>G, NM_001349260.1:c.1997C>T, NM_001349260.1:c.1997C>G, NR_146099.2:n.2548C>T, NR_146099.2:n.2548C>G, NR_146099.1:n.2615C>T, NR_146099.1:n.2615C>G, NR_047656.2:n.2541C>T, NR_047656.2:n.2541C>G, NR_047656.1:n.2608C>T, NR_047656.1:n.2608C>G, NM_017991.2:c.2210C>T, NM_017991.2:c.2210C>G, NR_047657.2:n.2487C>T, NR_047657.2:n.2487C>G, NR_047657.1:n.2554C>T, NR_047657.1:n.2554C>G, NR_146101.2:n.2396C>T, NR_146101.2:n.2396C>G, NR_146101.1:n.2463C>T, NR_146101.1:n.2463C>G, NR_146102.2:n.2475C>T, NR_146102.2:n.2475C>G, NR_146102.1:n.2542C>T, NR_146102.1:n.2542C>G, NM_001349262.2:c.1946C>T, NM_001349262.2:c.1946C>G, NM_001349262.1:c.1946C>T, NM_001349262.1:c.1946C>G, NR_146098.2:n.2409C>T, NR_146098.2:n.2409C>G, NR_146098.1:n.2476C>T, NR_146098.1:n.2476C>G, NR_146100.2:n.2396C>T, NR_146100.2:n.2396C>G, NR_146100.1:n.2463C>T, NR_146100.1:n.2463C>G, NR_047658.2:n.2384C>T, NR_047658.2:n.2384C>G, NR_047658.1:n.2453C>T, NR_047658.1:n.2453C>G, NM_001349256.2:c.2630C>T, NM_001349256.2:c.2630C>G, NM_001349256.1:c.2630C>T, NM_001349256.1:c.2630C>G, XM_047445028.1:c.2552C>T, XM_047445028.1:c.2552C>G, XM_047444998.1:c.2630C>T, XM_047444998.1:c.2630C>G, XM_047445024.1:c.2552C>T, XM_047445024.1:c.2552C>G, XM_047445030.1:c.2546C>T, XM_047445030.1:c.2546C>G, XM_047445012.1:c.2552C>T, XM_047445012.1:c.2552C>G, XM_047445015.1:c.2552C>T, XM_047445015.1:c.2552C>G, XM_047445018.1:c.2552C>T, XM_047445018.1:c.2552C>G, XM_047445013.1:c.2552C>T, XM_047445013.1:c.2552C>G, XM_047445021.1:c.2546C>T, XM_047445021.1:c.2546C>G, XM_047445031.1:c.2477C>T, XM_047445031.1:c.2477C>G, XM_047445032.1:c.2381C>T, XM_047445032.1:c.2381C>G, XM_047445033.1:c.2375C>T, XM_047445033.1:c.2375C>G, XM_047445048.1:c.1862C>T, XM_047445048.1:c.1862C>G, XM_047445047.1:c.1868C>T, XM_047445047.1:c.1868C>G, XM_047445007.1:c.2552C>T, XM_047445007.1:c.2552C>G, XM_047445006.1:c.2552C>T, XM_047445006.1:c.2552C>G, XM_047445010.1:c.2546C>T, XM_047445010.1:c.2546C>G, XM_047444995.1:c.2630C>T, XM_047444995.1:c.2630C>G, XM_047444996.1:c.2630C>T, XM_047444996.1:c.2630C>G, XM_047445005.1:c.2552C>T, XM_047445005.1:c.2552C>G, XM_047445034.1:c.2231C>T, XM_047445034.1:c.2231C>G, XM_047445042.1:c.2012C>T, XM_047445042.1:c.2012C>G, XM_047445043.1:c.1946C>T, XM_047445043.1:c.1946C>G, XM_047445039.1:c.*64C>T, XM_047445039.1:c.*64C>G, XM_047445046.1:c.1946C>T, XM_047445046.1:c.1946C>G, XP_011509759.1:p.Pro877Leu, XP_011509759.1:p.Pro877Arg, XP_011509757.1:p.Pro877Leu, XP_011509757.1:p.Pro877Arg, XP_011509758.1:p.Pro877Leu, XP_011509758.1:p.Pro877Arg, XP_011509756.1:p.Pro877Leu, XP_011509756.1:p.Pro877Arg, XP_011509760.1:p.Pro875Leu, XP_011509760.1:p.Pro875Arg, XP_011509761.1:p.Pro852Leu, XP_011509761.1:p.Pro852Arg, XP_011509762.1:p.Pro851Leu, XP_011509762.1:p.Pro851Arg, XP_011509763.1:p.Pro849Leu, XP_011509763.1:p.Pro849Arg, XP_011509764.1:p.Pro820Leu, XP_011509764.1:p.Pro820Arg, NP_001108488.1:p.Pro851Leu, NP_001108488.1:p.Pro851Arg, NP_001336188.1:p.Pro790Leu, NP_001336188.1:p.Pro790Arg, NP_001336186.1:p.Pro877Leu, NP_001336186.1:p.Pro877Arg, NP_001336187.1:p.Pro875Leu, NP_001336187.1:p.Pro875Arg, NP_001336190.1:p.Pro649Leu, NP_001336190.1:p.Pro649Arg, XP_005264044.1:p.Pro849Leu, XP_005264044.1:p.Pro849Arg, NP_001336189.1:p.Pro666Leu, NP_001336189.1:p.Pro666Arg, NP_001336191.1:p.Pro649Leu, NP_001336191.1:p.Pro649Arg, NP_001336185.1:p.Pro877Leu, NP_001336185.1:p.Pro877Arg, XP_047300984.1:p.Pro851Leu, XP_047300984.1:p.Pro851Arg, XP_047300954.1:p.Pro877Leu, XP_047300954.1:p.Pro877Arg, XP_047300980.1:p.Pro851Leu, XP_047300980.1:p.Pro851Arg, XP_047300986.1:p.Pro849Leu, XP_047300986.1:p.Pro849Arg, XP_047300968.1:p.Pro851Leu, XP_047300968.1:p.Pro851Arg, XP_047300971.1:p.Pro851Leu, XP_047300971.1:p.Pro851Arg, XP_047300974.1:p.Pro851Leu, XP_047300974.1:p.Pro851Arg, XP_047300969.1:p.Pro851Leu, XP_047300969.1:p.Pro851Arg, XP_047300977.1:p.Pro849Leu, XP_047300977.1:p.Pro849Arg, XP_047300987.1:p.Pro826Leu, XP_047300987.1:p.Pro826Arg, XP_047300988.1:p.Pro794Leu, XP_047300988.1:p.Pro794Arg, XP_047300989.1:p.Pro792Leu, XP_047300989.1:p.Pro792Arg, XP_047301004.1:p.Pro621Leu, XP_047301004.1:p.Pro621Arg, XP_047301003.1:p.Pro623Leu, XP_047301003.1:p.Pro623Arg, XP_047300963.1:p.Pro851Leu, XP_047300963.1:p.Pro851Arg, XP_047300962.1:p.Pro851Leu, XP_047300962.1:p.Pro851Arg, XP_047300966.1:p.Pro849Leu, XP_047300966.1:p.Pro849Arg, XP_047300951.1:p.Pro877Leu, XP_047300951.1:p.Pro877Arg, XP_047300952.1:p.Pro877Leu, XP_047300952.1:p.Pro877Arg, XP_047300961.1:p.Pro851Leu, XP_047300961.1:p.Pro851Arg, XP_047300990.1:p.Pro744Leu, XP_047300990.1:p.Pro744Arg, XP_047300998.1:p.Pro671Leu, XP_047300998.1:p.Pro671Arg, XP_047300999.1:p.Pro649Leu, XP_047300999.1:p.Pro649Arg, XP_047301002.1:p.Pro649Leu, XP_047301002.1:p.Pro649Arg

            6.

            rs1484213235 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              2:96602265 (GRCh38)
              2:97268002 (GRCh37)
              Canonical SPDI:
              NC_000002.12:96602264:C:T
              Gene:
              KANSL3 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000224/1 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000008/2 (GnomAD_exomes)
              T=0.000223/1 (Estonian)
              HGVS:
              NC_000002.12:g.96602265C>T, NC_000002.11:g.97268002C>T, NM_017991.4:c.2072G>A, XM_011511457.4:c.2411G>A, XM_011511457.3:c.2411G>A, XM_011511457.2:c.2411G>A, XM_011511457.1:c.2411G>A, XM_011511455.4:c.2411G>A, XM_011511455.3:c.2411G>A, XM_011511455.2:c.2411G>A, XM_011511455.1:c.2411G>A, XM_011511456.4:c.2411G>A, XM_011511456.3:c.2411G>A, XM_011511456.2:c.2411G>A, XM_011511456.1:c.2411G>A, XM_011511454.4:c.2411G>A, XM_011511454.3:c.2411G>A, XM_011511454.2:c.2411G>A, XM_011511454.1:c.2411G>A, XM_011511458.4:c.2405G>A, XM_011511458.3:c.2405G>A, XM_011511458.2:c.2405G>A, XM_011511458.1:c.2405G>A, XM_011511459.4:c.2336G>A, XM_011511459.3:c.2336G>A, XM_011511459.2:c.2336G>A, XM_011511459.1:c.2336G>A, XM_011511460.4:c.2333G>A, XM_011511460.3:c.2333G>A, XM_011511460.2:c.2333G>A, XM_011511460.1:c.2333G>A, XM_011511461.4:c.2327G>A, XM_011511461.3:c.2327G>A, XM_011511461.2:c.2327G>A, XM_011511461.1:c.2327G>A, XM_011511462.4:c.2240G>A, XM_011511462.3:c.2240G>A, XM_011511462.2:c.2240G>A, XM_011511462.1:c.2240G>A, NM_017991.3:c.2072G>A, NM_001115016.3:c.2333G>A, NM_001115016.2:c.2333G>A, NM_001349259.2:c.2150G>A, NM_001349259.1:c.2150G>A, NM_001349257.2:c.2411G>A, NM_001349257.1:c.2411G>A, NM_001349258.2:c.2405G>A, NM_001349258.1:c.2405G>A, NR_047653.2:n.2474G>A, NR_047653.1:n.2541G>A, NR_047654.2:n.2468G>A, NR_047654.1:n.2535G>A, NM_001349261.2:c.1727G>A, NM_001349261.1:c.1727G>A, XM_005263987.2:c.2327G>A, XM_005263987.1:c.2327G>A, NR_047655.2:n.2400G>A, NR_047655.1:n.2467G>A, NM_001349260.2:c.1778G>A, NM_001349260.1:c.1778G>A, NR_047656.2:n.2322G>A, NR_047656.1:n.2389G>A, NM_017991.2:c.1991G>A, NM_001349262.2:c.1727G>A, NM_001349262.1:c.1727G>A, NM_001349256.2:c.2411G>A, NM_001349256.1:c.2411G>A, XM_047445028.1:c.2333G>A, XM_047444998.1:c.2411G>A, XM_047445024.1:c.2333G>A, XM_047445030.1:c.2327G>A, XM_047445012.1:c.2333G>A, XM_047445015.1:c.2333G>A, XM_047445018.1:c.2333G>A, XM_047445013.1:c.2333G>A, XM_047445021.1:c.2327G>A, XM_047445031.1:c.2258G>A, XM_047445032.1:c.2162G>A, XM_047445033.1:c.2156G>A, XM_047445048.1:c.1643G>A, XM_047445047.1:c.1649G>A, XM_047445007.1:c.2333G>A, XM_047445006.1:c.2333G>A, XM_047445010.1:c.2327G>A, XM_047444995.1:c.2411G>A, XM_047444996.1:c.2411G>A, XM_047445005.1:c.2333G>A, XM_047445034.1:c.2012G>A, XM_047445042.1:c.1793G>A, XM_047445043.1:c.1727G>A, XM_047445035.1:c.2301G>A, XM_047445046.1:c.1727G>A, XP_011509759.1:p.Arg804His, XP_011509757.1:p.Arg804His, XP_011509758.1:p.Arg804His, XP_011509756.1:p.Arg804His, XP_011509760.1:p.Arg802His, XP_011509761.1:p.Arg779His, XP_011509762.1:p.Arg778His, XP_011509763.1:p.Arg776His, XP_011509764.1:p.Arg747His, NP_001108488.1:p.Arg778His, NP_001336188.1:p.Arg717His, NP_001336186.1:p.Arg804His, NP_001336187.1:p.Arg802His, NP_001336190.1:p.Arg576His, XP_005264044.1:p.Arg776His, NP_001336189.1:p.Arg593His, NP_001336191.1:p.Arg576His, NP_001336185.1:p.Arg804His, XP_047300984.1:p.Arg778His, XP_047300954.1:p.Arg804His, XP_047300980.1:p.Arg778His, XP_047300986.1:p.Arg776His, XP_047300968.1:p.Arg778His, XP_047300971.1:p.Arg778His, XP_047300974.1:p.Arg778His, XP_047300969.1:p.Arg778His, XP_047300977.1:p.Arg776His, XP_047300987.1:p.Arg753His, XP_047300988.1:p.Arg721His, XP_047300989.1:p.Arg719His, XP_047301004.1:p.Arg548His, XP_047301003.1:p.Arg550His, XP_047300963.1:p.Arg778His, XP_047300962.1:p.Arg778His, XP_047300966.1:p.Arg776His, XP_047300951.1:p.Arg804His, XP_047300952.1:p.Arg804His, XP_047300961.1:p.Arg778His, XP_047300990.1:p.Arg671His, XP_047300998.1:p.Arg598His, XP_047300999.1:p.Arg576His, XP_047301002.1:p.Arg576His

              7.

              rs1483756465 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                2:96605392 (GRCh38)
                2:97271129 (GRCh37)
                Canonical SPDI:
                NC_000002.12:96605391:T:C
                Gene:
                KANSL3 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency,by cluster
                MAF:
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000002.12:g.96605392T>C, NC_000002.11:g.97271129T>C, NM_017991.4:c.1600A>G, XM_011511457.4:c.1939A>G, XM_011511457.3:c.1939A>G, XM_011511457.2:c.1939A>G, XM_011511457.1:c.1939A>G, XM_011511455.4:c.1939A>G, XM_011511455.3:c.1939A>G, XM_011511455.2:c.1939A>G, XM_011511455.1:c.1939A>G, XM_011511456.4:c.1939A>G, XM_011511456.3:c.1939A>G, XM_011511456.2:c.1939A>G, XM_011511456.1:c.1939A>G, XM_011511454.4:c.1939A>G, XM_011511454.3:c.1939A>G, XM_011511454.2:c.1939A>G, XM_011511454.1:c.1939A>G, XM_011511458.4:c.1939A>G, XM_011511458.3:c.1939A>G, XM_011511458.2:c.1939A>G, XM_011511458.1:c.1939A>G, XM_011511459.4:c.1864A>G, XM_011511459.3:c.1864A>G, XM_011511459.2:c.1864A>G, XM_011511459.1:c.1864A>G, XM_011511460.4:c.1861A>G, XM_011511460.3:c.1861A>G, XM_011511460.2:c.1861A>G, XM_011511460.1:c.1861A>G, XM_011511461.4:c.1861A>G, XM_011511461.3:c.1861A>G, XM_011511461.2:c.1861A>G, XM_011511461.1:c.1861A>G, XM_011511462.4:c.1768A>G, XM_011511462.3:c.1768A>G, XM_011511462.2:c.1768A>G, XM_011511462.1:c.1768A>G, NM_017991.3:c.1600A>G, NM_001115016.3:c.1861A>G, NM_001115016.2:c.1861A>G, NM_001349259.2:c.1678A>G, NM_001349259.1:c.1678A>G, NM_001349257.2:c.1939A>G, NM_001349257.1:c.1939A>G, NM_001349258.2:c.1939A>G, NM_001349258.1:c.1939A>G, NR_047653.2:n.2002A>G, NR_047653.1:n.2069A>G, NR_047654.2:n.2002A>G, NR_047654.1:n.2069A>G, NM_001349261.2:c.1255A>G, NM_001349261.1:c.1255A>G, XM_005263987.2:c.1861A>G, XM_005263987.1:c.1861A>G, NR_047655.2:n.1928A>G, NR_047655.1:n.1995A>G, NM_001349260.2:c.1306A>G, NM_001349260.1:c.1306A>G, NR_146099.2:n.2080A>G, NR_146099.1:n.2147A>G, NR_047656.2:n.1850A>G, NR_047656.1:n.1917A>G, NM_017991.2:c.1525A>G, NR_047657.2:n.2019A>G, NR_047657.1:n.2086A>G, NR_146101.2:n.1928A>G, NR_146101.1:n.1995A>G, NR_146102.2:n.2007A>G, NR_146102.1:n.2074A>G, NM_001349262.2:c.1255A>G, NM_001349262.1:c.1255A>G, NR_146098.2:n.1941A>G, NR_146098.1:n.2008A>G, NR_146100.2:n.1928A>G, NR_146100.1:n.1995A>G, NR_047658.2:n.1916A>G, NR_047658.1:n.1985A>G, NM_001349256.2:c.1939A>G, NM_001349256.1:c.1939A>G, XM_047445028.1:c.1861A>G, XM_047444998.1:c.1939A>G, XM_047445024.1:c.1861A>G, XM_047445030.1:c.1861A>G, XM_047445012.1:c.1861A>G, XM_047445015.1:c.1861A>G, XM_047445018.1:c.1861A>G, XM_047445013.1:c.1861A>G, XM_047445021.1:c.1861A>G, XM_047445031.1:c.1786A>G, XM_047445032.1:c.1690A>G, XM_047445033.1:c.1690A>G, XM_047445048.1:c.1177A>G, XM_047445047.1:c.1177A>G, XM_047445007.1:c.1861A>G, XM_047445006.1:c.1861A>G, XM_047445010.1:c.1861A>G, XM_047444995.1:c.1939A>G, XM_047444996.1:c.1939A>G, XM_047445005.1:c.1861A>G, XM_047445034.1:c.1540A>G, XM_047445042.1:c.1321A>G, XM_047445043.1:c.1255A>G, XM_047445039.1:c.1939A>G, XM_047445035.1:c.1939A>G, XM_047445046.1:c.1255A>G, XP_011509759.1:p.Lys647Glu, XP_011509757.1:p.Lys647Glu, XP_011509758.1:p.Lys647Glu, XP_011509756.1:p.Lys647Glu, XP_011509760.1:p.Lys647Glu, XP_011509761.1:p.Lys622Glu, XP_011509762.1:p.Lys621Glu, XP_011509763.1:p.Lys621Glu, XP_011509764.1:p.Lys590Glu, NP_001108488.1:p.Lys621Glu, NP_001336188.1:p.Lys560Glu, NP_001336186.1:p.Lys647Glu, NP_001336187.1:p.Lys647Glu, NP_001336190.1:p.Lys419Glu, XP_005264044.1:p.Lys621Glu, NP_001336189.1:p.Lys436Glu, NP_001336191.1:p.Lys419Glu, NP_001336185.1:p.Lys647Glu, XP_047300984.1:p.Lys621Glu, XP_047300954.1:p.Lys647Glu, XP_047300980.1:p.Lys621Glu, XP_047300986.1:p.Lys621Glu, XP_047300968.1:p.Lys621Glu, XP_047300971.1:p.Lys621Glu, XP_047300974.1:p.Lys621Glu, XP_047300969.1:p.Lys621Glu, XP_047300977.1:p.Lys621Glu, XP_047300987.1:p.Lys596Glu, XP_047300988.1:p.Lys564Glu, XP_047300989.1:p.Lys564Glu, XP_047301004.1:p.Lys393Glu, XP_047301003.1:p.Lys393Glu, XP_047300963.1:p.Lys621Glu, XP_047300962.1:p.Lys621Glu, XP_047300966.1:p.Lys621Glu, XP_047300951.1:p.Lys647Glu, XP_047300952.1:p.Lys647Glu, XP_047300961.1:p.Lys621Glu, XP_047300990.1:p.Lys514Glu, XP_047300998.1:p.Lys441Glu, XP_047300999.1:p.Lys419Glu, XP_047300995.1:p.Lys647Glu, XP_047300991.1:p.Lys647Glu, XP_047301002.1:p.Lys419Glu

                8.

                rs1482820963 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  2:96631384 (GRCh38)
                  2:97297121 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:96631383:C:T
                  Gene:
                  KANSL3 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000002.12:g.96631384C>T, NC_000002.11:g.97297121C>T, NM_017991.4:c.53G>A, XM_011511457.4:c.314G>A, XM_011511457.3:c.314G>A, XM_011511457.2:c.314G>A, XM_011511457.1:c.314G>A, XM_011511455.4:c.314G>A, XM_011511455.3:c.314G>A, XM_011511455.2:c.314G>A, XM_011511455.1:c.314G>A, XM_011511456.4:c.314G>A, XM_011511456.3:c.314G>A, XM_011511456.2:c.314G>A, XM_011511456.1:c.314G>A, XM_011511454.4:c.314G>A, XM_011511454.3:c.314G>A, XM_011511454.2:c.314G>A, XM_011511454.1:c.314G>A, XM_011511458.4:c.314G>A, XM_011511458.3:c.314G>A, XM_011511458.2:c.314G>A, XM_011511458.1:c.314G>A, XM_011511459.4:c.314G>A, XM_011511459.3:c.314G>A, XM_011511459.2:c.314G>A, XM_011511459.1:c.314G>A, XM_011511460.4:c.314G>A, XM_011511460.3:c.314G>A, XM_011511460.2:c.314G>A, XM_011511460.1:c.314G>A, XM_011511461.4:c.314G>A, XM_011511461.3:c.314G>A, XM_011511461.2:c.314G>A, XM_011511461.1:c.314G>A, NM_017991.3:c.53G>A, NM_001115016.3:c.314G>A, NM_001115016.2:c.314G>A, NM_001349259.2:c.53G>A, NM_001349259.1:c.53G>A, NM_001349257.2:c.314G>A, NM_001349257.1:c.314G>A, NM_001349258.2:c.314G>A, NM_001349258.1:c.314G>A, NR_047653.2:n.455G>A, NR_047653.1:n.522G>A, NR_047654.2:n.455G>A, NR_047654.1:n.522G>A, NM_001349261.2:c.-333G>A, NM_001349261.1:c.-333G>A, XM_005263987.2:c.314G>A, XM_005263987.1:c.314G>A, NR_047655.2:n.394G>A, NR_047655.1:n.461G>A, NM_001349260.2:c.-214G>A, NM_001349260.1:c.-214G>A, NR_146099.2:n.455G>A, NR_146099.1:n.522G>A, NR_047656.2:n.394G>A, NR_047656.1:n.461G>A, NM_017991.2:c.-178G>A, NR_047657.2:n.394G>A, NR_047657.1:n.461G>A, NR_146101.2:n.394G>A, NR_146101.1:n.461G>A, NR_146102.2:n.394G>A, NR_146102.1:n.461G>A, NM_001349262.2:c.-94G>A, NM_001349262.1:c.-94G>A, NR_146098.2:n.394G>A, NR_146098.1:n.461G>A, NR_146100.2:n.394G>A, NR_146100.1:n.461G>A, NR_047658.2:n.407G>A, NR_047658.1:n.476G>A, NM_001349256.2:c.314G>A, NM_001349256.1:c.314G>A, XM_047445028.1:c.314G>A, XM_047444998.1:c.314G>A, XM_047445024.1:c.314G>A, XM_047445030.1:c.314G>A, XM_047445012.1:c.314G>A, XM_047445015.1:c.314G>A, XM_047445018.1:c.314G>A, XM_047445013.1:c.314G>A, XM_047445021.1:c.314G>A, XM_047445031.1:c.314G>A, XM_047445007.1:c.314G>A, XM_047445006.1:c.314G>A, XM_047445010.1:c.314G>A, XM_047444995.1:c.314G>A, XM_047444996.1:c.314G>A, XM_047445005.1:c.314G>A, XM_047445042.1:c.-214G>A, XM_047445039.1:c.314G>A, XM_047445035.1:c.314G>A, NM_017991.1:c.53G>A, XM_047445049.1:c.314G>A, XM_047445052.1:c.314G>A, XP_011509759.1:p.Arg105Gln, XP_011509757.1:p.Arg105Gln, XP_011509758.1:p.Arg105Gln, XP_011509756.1:p.Arg105Gln, XP_011509760.1:p.Arg105Gln, XP_011509761.1:p.Arg105Gln, XP_011509762.1:p.Arg105Gln, XP_011509763.1:p.Arg105Gln, NP_001108488.1:p.Arg105Gln, NP_001336188.1:p.Arg18Gln, NP_001336186.1:p.Arg105Gln, NP_001336187.1:p.Arg105Gln, XP_005264044.1:p.Arg105Gln, NP_001336185.1:p.Arg105Gln, XP_047300984.1:p.Arg105Gln, XP_047300954.1:p.Arg105Gln, XP_047300980.1:p.Arg105Gln, XP_047300986.1:p.Arg105Gln, XP_047300968.1:p.Arg105Gln, XP_047300971.1:p.Arg105Gln, XP_047300974.1:p.Arg105Gln, XP_047300969.1:p.Arg105Gln, XP_047300977.1:p.Arg105Gln, XP_047300987.1:p.Arg105Gln, XP_047300963.1:p.Arg105Gln, XP_047300962.1:p.Arg105Gln, XP_047300966.1:p.Arg105Gln, XP_047300951.1:p.Arg105Gln, XP_047300952.1:p.Arg105Gln, XP_047300961.1:p.Arg105Gln, XP_047300995.1:p.Arg105Gln, XP_047300991.1:p.Arg105Gln, XP_047301005.1:p.Arg105Gln, XP_047301008.1:p.Arg105Gln

                  9.

                  rs1481493292 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    2:96631406 (GRCh38)
                    2:97297143 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:96631405:T:C
                    Gene:
                    KANSL3 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.000031/1 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    C=0.000009/2 (GnomAD_exomes)
                    HGVS:
                    NC_000002.12:g.96631406T>C, NC_000002.11:g.97297143T>C, NM_017991.4:c.31A>G, XM_011511457.4:c.292A>G, XM_011511457.3:c.292A>G, XM_011511457.2:c.292A>G, XM_011511457.1:c.292A>G, XM_011511455.4:c.292A>G, XM_011511455.3:c.292A>G, XM_011511455.2:c.292A>G, XM_011511455.1:c.292A>G, XM_011511456.4:c.292A>G, XM_011511456.3:c.292A>G, XM_011511456.2:c.292A>G, XM_011511456.1:c.292A>G, XM_011511454.4:c.292A>G, XM_011511454.3:c.292A>G, XM_011511454.2:c.292A>G, XM_011511454.1:c.292A>G, XM_011511458.4:c.292A>G, XM_011511458.3:c.292A>G, XM_011511458.2:c.292A>G, XM_011511458.1:c.292A>G, XM_011511459.4:c.292A>G, XM_011511459.3:c.292A>G, XM_011511459.2:c.292A>G, XM_011511459.1:c.292A>G, XM_011511460.4:c.292A>G, XM_011511460.3:c.292A>G, XM_011511460.2:c.292A>G, XM_011511460.1:c.292A>G, XM_011511461.4:c.292A>G, XM_011511461.3:c.292A>G, XM_011511461.2:c.292A>G, XM_011511461.1:c.292A>G, NM_017991.3:c.31A>G, NM_001115016.3:c.292A>G, NM_001115016.2:c.292A>G, NM_001349259.2:c.31A>G, NM_001349259.1:c.31A>G, NM_001349257.2:c.292A>G, NM_001349257.1:c.292A>G, NM_001349258.2:c.292A>G, NM_001349258.1:c.292A>G, NR_047653.2:n.433A>G, NR_047653.1:n.500A>G, NR_047654.2:n.433A>G, NR_047654.1:n.500A>G, NM_001349261.2:c.-355A>G, NM_001349261.1:c.-355A>G, XM_005263987.2:c.292A>G, XM_005263987.1:c.292A>G, NR_047655.2:n.372A>G, NR_047655.1:n.439A>G, NM_001349260.2:c.-236A>G, NM_001349260.1:c.-236A>G, NR_146099.2:n.433A>G, NR_146099.1:n.500A>G, NR_047656.2:n.372A>G, NR_047656.1:n.439A>G, NM_017991.2:c.-200A>G, NR_047657.2:n.372A>G, NR_047657.1:n.439A>G, NR_146101.2:n.372A>G, NR_146101.1:n.439A>G, NR_146102.2:n.372A>G, NR_146102.1:n.439A>G, NM_001349262.2:c.-116A>G, NM_001349262.1:c.-116A>G, NR_146098.2:n.372A>G, NR_146098.1:n.439A>G, NR_146100.2:n.372A>G, NR_146100.1:n.439A>G, NR_047658.2:n.385A>G, NR_047658.1:n.454A>G, NM_001349256.2:c.292A>G, NM_001349256.1:c.292A>G, XM_047445028.1:c.292A>G, XM_047444998.1:c.292A>G, XM_047445024.1:c.292A>G, XM_047445030.1:c.292A>G, XM_047445012.1:c.292A>G, XM_047445015.1:c.292A>G, XM_047445018.1:c.292A>G, XM_047445013.1:c.292A>G, XM_047445021.1:c.292A>G, XM_047445031.1:c.292A>G, XM_047445007.1:c.292A>G, XM_047445006.1:c.292A>G, XM_047445010.1:c.292A>G, XM_047444995.1:c.292A>G, XM_047444996.1:c.292A>G, XM_047445005.1:c.292A>G, XM_047445039.1:c.292A>G, XM_047445035.1:c.292A>G, NM_017991.1:c.31A>G, XM_047445049.1:c.292A>G, XM_047445052.1:c.292A>G, XP_011509759.1:p.Ser98Gly, XP_011509757.1:p.Ser98Gly, XP_011509758.1:p.Ser98Gly, XP_011509756.1:p.Ser98Gly, XP_011509760.1:p.Ser98Gly, XP_011509761.1:p.Ser98Gly, XP_011509762.1:p.Ser98Gly, XP_011509763.1:p.Ser98Gly, NP_001108488.1:p.Ser98Gly, NP_001336188.1:p.Ser11Gly, NP_001336186.1:p.Ser98Gly, NP_001336187.1:p.Ser98Gly, XP_005264044.1:p.Ser98Gly, NP_001336185.1:p.Ser98Gly, XP_047300984.1:p.Ser98Gly, XP_047300954.1:p.Ser98Gly, XP_047300980.1:p.Ser98Gly, XP_047300986.1:p.Ser98Gly, XP_047300968.1:p.Ser98Gly, XP_047300971.1:p.Ser98Gly, XP_047300974.1:p.Ser98Gly, XP_047300969.1:p.Ser98Gly, XP_047300977.1:p.Ser98Gly, XP_047300987.1:p.Ser98Gly, XP_047300963.1:p.Ser98Gly, XP_047300962.1:p.Ser98Gly, XP_047300966.1:p.Ser98Gly, XP_047300951.1:p.Ser98Gly, XP_047300952.1:p.Ser98Gly, XP_047300961.1:p.Ser98Gly, XP_047300995.1:p.Ser98Gly, XP_047300991.1:p.Ser98Gly, XP_047301005.1:p.Ser98Gly, XP_047301008.1:p.Ser98Gly

                    10.

                    rs1481207374 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      2:96609532 (GRCh38)
                      2:97275269 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:96609531:C:T
                      Gene:
                      KANSL3 (Varview)
                      Functional Consequence:
                      synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000011/3 (TOPMED)
                      T=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000002.12:g.96609532C>T, NC_000002.11:g.97275269C>T, NM_017991.4:c.1089G>A, XM_011511457.4:c.1350G>A, XM_011511457.3:c.1350G>A, XM_011511457.2:c.1350G>A, XM_011511457.1:c.1350G>A, XM_011511455.4:c.1350G>A, XM_011511455.3:c.1350G>A, XM_011511455.2:c.1350G>A, XM_011511455.1:c.1350G>A, XM_011511456.4:c.1350G>A, XM_011511456.3:c.1350G>A, XM_011511456.2:c.1350G>A, XM_011511456.1:c.1350G>A, XM_011511454.4:c.1350G>A, XM_011511454.3:c.1350G>A, XM_011511454.2:c.1350G>A, XM_011511454.1:c.1350G>A, XM_011511458.4:c.1350G>A, XM_011511458.3:c.1350G>A, XM_011511458.2:c.1350G>A, XM_011511458.1:c.1350G>A, XM_011511459.4:c.1275G>A, XM_011511459.3:c.1275G>A, XM_011511459.2:c.1275G>A, XM_011511459.1:c.1275G>A, XM_011511460.4:c.1350G>A, XM_011511460.3:c.1350G>A, XM_011511460.2:c.1350G>A, XM_011511460.1:c.1350G>A, XM_011511461.4:c.1350G>A, XM_011511461.3:c.1350G>A, XM_011511461.2:c.1350G>A, XM_011511461.1:c.1350G>A, XM_011511462.4:c.1179G>A, XM_011511462.3:c.1179G>A, XM_011511462.2:c.1179G>A, XM_011511462.1:c.1179G>A, NM_017991.3:c.1089G>A, NM_001115016.3:c.1350G>A, NM_001115016.2:c.1350G>A, NM_001349259.2:c.1089G>A, NM_001349259.1:c.1089G>A, NM_001349257.2:c.1350G>A, NM_001349257.1:c.1350G>A, NM_001349258.2:c.1350G>A, NM_001349258.1:c.1350G>A, NR_047653.2:n.1491G>A, NR_047653.1:n.1558G>A, NR_047654.2:n.1491G>A, NR_047654.1:n.1558G>A, NM_001349261.2:c.666G>A, NM_001349261.1:c.666G>A, XM_005263987.2:c.1350G>A, XM_005263987.1:c.1350G>A, NR_047655.2:n.1339G>A, NR_047655.1:n.1406G>A, NM_001349260.2:c.732G>A, NM_001349260.1:c.732G>A, NR_146099.2:n.1491G>A, NR_146099.1:n.1558G>A, NR_047656.2:n.1339G>A, NR_047656.1:n.1406G>A, NM_017991.2:c.1014G>A, NR_047657.2:n.1430G>A, NR_047657.1:n.1497G>A, NR_146101.2:n.1339G>A, NR_146101.1:n.1406G>A, NR_146102.2:n.1392G>A, NR_146102.1:n.1459G>A, NM_001349262.2:c.666G>A, NM_001349262.1:c.666G>A, NR_146098.2:n.1430G>A, NR_146098.1:n.1497G>A, NR_146100.2:n.1339G>A, NR_146100.1:n.1406G>A, NR_047658.2:n.1405G>A, NR_047658.1:n.1474G>A, NM_001349256.2:c.1350G>A, NM_001349256.1:c.1350G>A, XM_047445028.1:c.1350G>A, XM_047444998.1:c.1350G>A, XM_047445024.1:c.1350G>A, XM_047445030.1:c.1350G>A, XM_047445012.1:c.1350G>A, XM_047445015.1:c.1350G>A, XM_047445018.1:c.1350G>A, XM_047445013.1:c.1350G>A, XM_047445021.1:c.1350G>A, XM_047445031.1:c.1275G>A, XM_047445032.1:c.1179G>A, XM_047445033.1:c.1179G>A, XM_047445048.1:c.666G>A, XM_047445047.1:c.666G>A, XM_047445007.1:c.1350G>A, XM_047445006.1:c.1350G>A, XM_047445010.1:c.1350G>A, XM_047444995.1:c.1350G>A, XM_047444996.1:c.1350G>A, XM_047445005.1:c.1350G>A, XM_047445034.1:c.951G>A, XM_047445042.1:c.732G>A, XM_047445043.1:c.666G>A, XM_047445039.1:c.1350G>A, XM_047445035.1:c.1350G>A, XM_047445046.1:c.666G>A, NM_017991.1:c.1089G>A, XM_047445049.1:c.1350G>A, XM_047445052.1:c.1350G>A

                      11.

                      rs1479172383 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        2:96619519 (GRCh38)
                        2:97285256 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:96619518:C:T
                        Gene:
                        KANSL3 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
                        HGVS:
                        NC_000002.12:g.96619519C>T, NC_000002.11:g.97285256C>T, NM_017991.4:c.242G>A, XM_011511457.4:c.503G>A, XM_011511457.3:c.503G>A, XM_011511457.2:c.503G>A, XM_011511457.1:c.503G>A, XM_011511455.4:c.503G>A, XM_011511455.3:c.503G>A, XM_011511455.2:c.503G>A, XM_011511455.1:c.503G>A, XM_011511456.4:c.503G>A, XM_011511456.3:c.503G>A, XM_011511456.2:c.503G>A, XM_011511456.1:c.503G>A, XM_011511454.4:c.503G>A, XM_011511454.3:c.503G>A, XM_011511454.2:c.503G>A, XM_011511454.1:c.503G>A, XM_011511458.4:c.503G>A, XM_011511458.3:c.503G>A, XM_011511458.2:c.503G>A, XM_011511458.1:c.503G>A, XM_011511459.4:c.503G>A, XM_011511459.3:c.503G>A, XM_011511459.2:c.503G>A, XM_011511459.1:c.503G>A, XM_011511460.4:c.503G>A, XM_011511460.3:c.503G>A, XM_011511460.2:c.503G>A, XM_011511460.1:c.503G>A, XM_011511461.4:c.503G>A, XM_011511461.3:c.503G>A, XM_011511461.2:c.503G>A, XM_011511461.1:c.503G>A, XM_011511462.4:c.332G>A, XM_011511462.3:c.332G>A, XM_011511462.2:c.332G>A, XM_011511462.1:c.332G>A, NM_017991.3:c.242G>A, NM_001115016.3:c.503G>A, NM_001115016.2:c.503G>A, NM_001349259.2:c.242G>A, NM_001349259.1:c.242G>A, NM_001349257.2:c.503G>A, NM_001349257.1:c.503G>A, NM_001349258.2:c.503G>A, NM_001349258.1:c.503G>A, NR_047653.2:n.644G>A, NR_047653.1:n.711G>A, NR_047654.2:n.644G>A, NR_047654.1:n.711G>A, NM_001349261.2:c.-235G>A, NM_001349261.1:c.-235G>A, XM_005263987.2:c.503G>A, XM_005263987.1:c.503G>A, NR_047655.2:n.492G>A, NR_047655.1:n.559G>A, NM_001349260.2:c.-116G>A, NM_001349260.1:c.-116G>A, NR_146099.2:n.644G>A, NR_146099.1:n.711G>A, NR_047656.2:n.492G>A, NR_047656.1:n.559G>A, NM_017991.2:c.167G>A, NR_047657.2:n.583G>A, NR_047657.1:n.650G>A, NR_146101.2:n.492G>A, NR_146101.1:n.559G>A, NR_146102.2:n.492G>A, NR_146102.1:n.559G>A, NR_146098.2:n.583G>A, NR_146098.1:n.650G>A, NR_146100.2:n.492G>A, NR_146100.1:n.559G>A, NR_047658.2:n.505G>A, NR_047658.1:n.574G>A, NM_001349256.2:c.503G>A, NM_001349256.1:c.503G>A, XM_047445028.1:c.503G>A, XM_047444998.1:c.503G>A, XM_047445024.1:c.503G>A, XM_047445030.1:c.503G>A, XM_047445012.1:c.503G>A, XM_047445015.1:c.503G>A, XM_047445018.1:c.503G>A, XM_047445013.1:c.503G>A, XM_047445021.1:c.503G>A, XM_047445031.1:c.503G>A, XM_047445032.1:c.332G>A, XM_047445033.1:c.332G>A, XM_047445007.1:c.503G>A, XM_047445006.1:c.503G>A, XM_047445010.1:c.503G>A, XM_047444995.1:c.503G>A, XM_047444996.1:c.503G>A, XM_047445005.1:c.503G>A, XM_047445034.1:c.104G>A, XM_047445042.1:c.-116G>A, XM_047445039.1:c.503G>A, XM_047445035.1:c.503G>A, NM_017991.1:c.242G>A, XM_047445049.1:c.503G>A, XM_047445052.1:c.503G>A, XP_011509759.1:p.Arg168His, XP_011509757.1:p.Arg168His, XP_011509758.1:p.Arg168His, XP_011509756.1:p.Arg168His, XP_011509760.1:p.Arg168His, XP_011509761.1:p.Arg168His, XP_011509762.1:p.Arg168His, XP_011509763.1:p.Arg168His, XP_011509764.1:p.Arg111His, NP_001108488.1:p.Arg168His, NP_001336188.1:p.Arg81His, NP_001336186.1:p.Arg168His, NP_001336187.1:p.Arg168His, XP_005264044.1:p.Arg168His, NP_001336185.1:p.Arg168His, XP_047300984.1:p.Arg168His, XP_047300954.1:p.Arg168His, XP_047300980.1:p.Arg168His, XP_047300986.1:p.Arg168His, XP_047300968.1:p.Arg168His, XP_047300971.1:p.Arg168His, XP_047300974.1:p.Arg168His, XP_047300969.1:p.Arg168His, XP_047300977.1:p.Arg168His, XP_047300987.1:p.Arg168His, XP_047300988.1:p.Arg111His, XP_047300989.1:p.Arg111His, XP_047300963.1:p.Arg168His, XP_047300962.1:p.Arg168His, XP_047300966.1:p.Arg168His, XP_047300951.1:p.Arg168His, XP_047300952.1:p.Arg168His, XP_047300961.1:p.Arg168His, XP_047300990.1:p.Arg35His, XP_047300995.1:p.Arg168His, XP_047300991.1:p.Arg168His, XP_047301005.1:p.Arg168His, XP_047301008.1:p.Arg168His

                        12.

                        rs1478739499 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          2:96612515 (GRCh38)
                          2:97278252 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:96612514:C:T
                          Gene:
                          KANSL3 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000002.12:g.96612515C>T, NC_000002.11:g.97278252C>T, NM_017991.4:c.700G>A, XM_011511457.4:c.961G>A, XM_011511457.3:c.961G>A, XM_011511457.2:c.961G>A, XM_011511457.1:c.961G>A, XM_011511455.4:c.961G>A, XM_011511455.3:c.961G>A, XM_011511455.2:c.961G>A, XM_011511455.1:c.961G>A, XM_011511456.4:c.961G>A, XM_011511456.3:c.961G>A, XM_011511456.2:c.961G>A, XM_011511456.1:c.961G>A, XM_011511454.4:c.961G>A, XM_011511454.3:c.961G>A, XM_011511454.2:c.961G>A, XM_011511454.1:c.961G>A, XM_011511458.4:c.961G>A, XM_011511458.3:c.961G>A, XM_011511458.2:c.961G>A, XM_011511458.1:c.961G>A, XM_011511459.4:c.961G>A, XM_011511459.3:c.961G>A, XM_011511459.2:c.961G>A, XM_011511459.1:c.961G>A, XM_011511460.4:c.961G>A, XM_011511460.3:c.961G>A, XM_011511460.2:c.961G>A, XM_011511460.1:c.961G>A, XM_011511461.4:c.961G>A, XM_011511461.3:c.961G>A, XM_011511461.2:c.961G>A, XM_011511461.1:c.961G>A, XM_011511462.4:c.790G>A, XM_011511462.3:c.790G>A, XM_011511462.2:c.790G>A, XM_011511462.1:c.790G>A, NM_017991.3:c.700G>A, NM_001115016.3:c.961G>A, NM_001115016.2:c.961G>A, NM_001349259.2:c.700G>A, NM_001349259.1:c.700G>A, NM_001349257.2:c.961G>A, NM_001349257.1:c.961G>A, NM_001349258.2:c.961G>A, NM_001349258.1:c.961G>A, NR_047653.2:n.1102G>A, NR_047653.1:n.1169G>A, NR_047654.2:n.1102G>A, NR_047654.1:n.1169G>A, NM_001349261.2:c.277G>A, NM_001349261.1:c.277G>A, XM_005263987.2:c.961G>A, XM_005263987.1:c.961G>A, NR_047655.2:n.950G>A, NR_047655.1:n.1017G>A, NM_001349260.2:c.343G>A, NM_001349260.1:c.343G>A, NR_146099.2:n.1102G>A, NR_146099.1:n.1169G>A, NR_047656.2:n.950G>A, NR_047656.1:n.1017G>A, NM_017991.2:c.625G>A, NR_047657.2:n.1041G>A, NR_047657.1:n.1108G>A, NR_146101.2:n.950G>A, NR_146101.1:n.1017G>A, NR_146102.2:n.1003G>A, NR_146102.1:n.1070G>A, NM_001349262.2:c.277G>A, NM_001349262.1:c.277G>A, NR_146098.2:n.1041G>A, NR_146098.1:n.1108G>A, NR_146100.2:n.950G>A, NR_146100.1:n.1017G>A, NR_047658.2:n.1016G>A, NR_047658.1:n.1085G>A, NM_001349256.2:c.961G>A, NM_001349256.1:c.961G>A, XM_047445028.1:c.961G>A, XM_047444998.1:c.961G>A, XM_047445024.1:c.961G>A, XM_047445030.1:c.961G>A, XM_047445012.1:c.961G>A, XM_047445015.1:c.961G>A, XM_047445018.1:c.961G>A, XM_047445013.1:c.961G>A, XM_047445021.1:c.961G>A, XM_047445031.1:c.961G>A, XM_047445032.1:c.790G>A, XM_047445033.1:c.790G>A, XM_047445048.1:c.277G>A, XM_047445047.1:c.277G>A, XM_047445007.1:c.961G>A, XM_047445006.1:c.961G>A, XM_047445010.1:c.961G>A, XM_047444995.1:c.961G>A, XM_047444996.1:c.961G>A, XM_047445005.1:c.961G>A, XM_047445034.1:c.562G>A, XM_047445042.1:c.343G>A, XM_047445043.1:c.277G>A, XM_047445039.1:c.961G>A, XM_047445035.1:c.961G>A, XM_047445046.1:c.277G>A, NM_017991.1:c.700G>A, XM_047445049.1:c.961G>A, XM_047445052.1:c.961G>A, XP_011509759.1:p.Val321Ile, XP_011509757.1:p.Val321Ile, XP_011509758.1:p.Val321Ile, XP_011509756.1:p.Val321Ile, XP_011509760.1:p.Val321Ile, XP_011509761.1:p.Val321Ile, XP_011509762.1:p.Val321Ile, XP_011509763.1:p.Val321Ile, XP_011509764.1:p.Val264Ile, NP_001108488.1:p.Val321Ile, NP_001336188.1:p.Val234Ile, NP_001336186.1:p.Val321Ile, NP_001336187.1:p.Val321Ile, NP_001336190.1:p.Val93Ile, XP_005264044.1:p.Val321Ile, NP_001336189.1:p.Val115Ile, NP_001336191.1:p.Val93Ile, NP_001336185.1:p.Val321Ile, XP_047300984.1:p.Val321Ile, XP_047300954.1:p.Val321Ile, XP_047300980.1:p.Val321Ile, XP_047300986.1:p.Val321Ile, XP_047300968.1:p.Val321Ile, XP_047300971.1:p.Val321Ile, XP_047300974.1:p.Val321Ile, XP_047300969.1:p.Val321Ile, XP_047300977.1:p.Val321Ile, XP_047300987.1:p.Val321Ile, XP_047300988.1:p.Val264Ile, XP_047300989.1:p.Val264Ile, XP_047301004.1:p.Val93Ile, XP_047301003.1:p.Val93Ile, XP_047300963.1:p.Val321Ile, XP_047300962.1:p.Val321Ile, XP_047300966.1:p.Val321Ile, XP_047300951.1:p.Val321Ile, XP_047300952.1:p.Val321Ile, XP_047300961.1:p.Val321Ile, XP_047300990.1:p.Val188Ile, XP_047300998.1:p.Val115Ile, XP_047300999.1:p.Val93Ile, XP_047300995.1:p.Val321Ile, XP_047300991.1:p.Val321Ile, XP_047301002.1:p.Val93Ile, XP_047301005.1:p.Val321Ile, XP_047301008.1:p.Val321Ile

                          13.

                          rs1477330733 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            2:96619403 (GRCh38)
                            2:97285140 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:96619402:T:C
                            Gene:
                            KANSL3 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,initiator_codon_variant,intron_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            C=0.000177/3 (TOMMO)
                            HGVS:
                            NC_000002.12:g.96619403T>C, NC_000002.11:g.97285140T>C, NM_017991.4:c.358A>G, XM_011511457.4:c.619A>G, XM_011511457.3:c.619A>G, XM_011511457.2:c.619A>G, XM_011511457.1:c.619A>G, XM_011511455.4:c.619A>G, XM_011511455.3:c.619A>G, XM_011511455.2:c.619A>G, XM_011511455.1:c.619A>G, XM_011511456.4:c.619A>G, XM_011511456.3:c.619A>G, XM_011511456.2:c.619A>G, XM_011511456.1:c.619A>G, XM_011511454.4:c.619A>G, XM_011511454.3:c.619A>G, XM_011511454.2:c.619A>G, XM_011511454.1:c.619A>G, XM_011511458.4:c.619A>G, XM_011511458.3:c.619A>G, XM_011511458.2:c.619A>G, XM_011511458.1:c.619A>G, XM_011511459.4:c.619A>G, XM_011511459.3:c.619A>G, XM_011511459.2:c.619A>G, XM_011511459.1:c.619A>G, XM_011511460.4:c.619A>G, XM_011511460.3:c.619A>G, XM_011511460.2:c.619A>G, XM_011511460.1:c.619A>G, XM_011511461.4:c.619A>G, XM_011511461.3:c.619A>G, XM_011511461.2:c.619A>G, XM_011511461.1:c.619A>G, XM_011511462.4:c.448A>G, XM_011511462.3:c.448A>G, XM_011511462.2:c.448A>G, XM_011511462.1:c.448A>G, NM_017991.3:c.358A>G, NM_001115016.3:c.619A>G, NM_001115016.2:c.619A>G, NM_001349259.2:c.358A>G, NM_001349259.1:c.358A>G, NM_001349257.2:c.619A>G, NM_001349257.1:c.619A>G, NM_001349258.2:c.619A>G, NM_001349258.1:c.619A>G, NR_047653.2:n.760A>G, NR_047653.1:n.827A>G, NR_047654.2:n.760A>G, NR_047654.1:n.827A>G, NM_001349261.2:c.-119A>G, NM_001349261.1:c.-119A>G, XM_005263987.2:c.619A>G, XM_005263987.1:c.619A>G, NR_047655.2:n.608A>G, NR_047655.1:n.675A>G, NM_001349260.2:c.1A>G, NM_001349260.1:c.1A>G, NR_146099.2:n.760A>G, NR_146099.1:n.827A>G, NR_047656.2:n.608A>G, NR_047656.1:n.675A>G, NM_017991.2:c.283A>G, NR_047657.2:n.699A>G, NR_047657.1:n.766A>G, NR_146101.2:n.608A>G, NR_146101.1:n.675A>G, NR_146102.2:n.608A>G, NR_146102.1:n.675A>G, NR_146098.2:n.699A>G, NR_146098.1:n.766A>G, NR_146100.2:n.608A>G, NR_146100.1:n.675A>G, NR_047658.2:n.621A>G, NR_047658.1:n.690A>G, NM_001349256.2:c.619A>G, NM_001349256.1:c.619A>G, XM_047445028.1:c.619A>G, XM_047444998.1:c.619A>G, XM_047445024.1:c.619A>G, XM_047445030.1:c.619A>G, XM_047445012.1:c.619A>G, XM_047445015.1:c.619A>G, XM_047445018.1:c.619A>G, XM_047445013.1:c.619A>G, XM_047445021.1:c.619A>G, XM_047445031.1:c.619A>G, XM_047445032.1:c.448A>G, XM_047445033.1:c.448A>G, XM_047445048.1:c.-119A>G, XM_047445007.1:c.619A>G, XM_047445006.1:c.619A>G, XM_047445010.1:c.619A>G, XM_047444995.1:c.619A>G, XM_047444996.1:c.619A>G, XM_047445005.1:c.619A>G, XM_047445034.1:c.220A>G, XM_047445042.1:c.1A>G, XM_047445039.1:c.619A>G, XM_047445035.1:c.619A>G, NM_017991.1:c.358A>G, XM_047445049.1:c.619A>G, XM_047445052.1:c.619A>G, XP_011509759.1:p.Met207Val, XP_011509757.1:p.Met207Val, XP_011509758.1:p.Met207Val, XP_011509756.1:p.Met207Val, XP_011509760.1:p.Met207Val, XP_011509761.1:p.Met207Val, XP_011509762.1:p.Met207Val, XP_011509763.1:p.Met207Val, XP_011509764.1:p.Met150Val, NP_001108488.1:p.Met207Val, NP_001336188.1:p.Met120Val, NP_001336186.1:p.Met207Val, NP_001336187.1:p.Met207Val, XP_005264044.1:p.Met207Val, NP_001336189.1:p.Met1Val, NP_001336185.1:p.Met207Val, XP_047300984.1:p.Met207Val, XP_047300954.1:p.Met207Val, XP_047300980.1:p.Met207Val, XP_047300986.1:p.Met207Val, XP_047300968.1:p.Met207Val, XP_047300971.1:p.Met207Val, XP_047300974.1:p.Met207Val, XP_047300969.1:p.Met207Val, XP_047300977.1:p.Met207Val, XP_047300987.1:p.Met207Val, XP_047300988.1:p.Met150Val, XP_047300989.1:p.Met150Val, XP_047300963.1:p.Met207Val, XP_047300962.1:p.Met207Val, XP_047300966.1:p.Met207Val, XP_047300951.1:p.Met207Val, XP_047300952.1:p.Met207Val, XP_047300961.1:p.Met207Val, XP_047300990.1:p.Met74Val, XP_047300998.1:p.Met1Val, XP_047300995.1:p.Met207Val, XP_047300991.1:p.Met207Val, XP_047301005.1:p.Met207Val, XP_047301008.1:p.Met207Val

                            14.

                            rs1475753470 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              2:96602334 (GRCh38)
                              2:97268071 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:96602333:G:C
                              Gene:
                              KANSL3 (Varview)
                              Functional Consequence:
                              missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000015/4 (TOPMED)
                              HGVS:
                              NC_000002.12:g.96602334G>C, NC_000002.11:g.97268071G>C, NM_017991.4:c.2003C>G, XM_011511457.4:c.2342C>G, XM_011511457.3:c.2342C>G, XM_011511457.2:c.2342C>G, XM_011511457.1:c.2342C>G, XM_011511455.4:c.2342C>G, XM_011511455.3:c.2342C>G, XM_011511455.2:c.2342C>G, XM_011511455.1:c.2342C>G, XM_011511456.4:c.2342C>G, XM_011511456.3:c.2342C>G, XM_011511456.2:c.2342C>G, XM_011511456.1:c.2342C>G, XM_011511454.4:c.2342C>G, XM_011511454.3:c.2342C>G, XM_011511454.2:c.2342C>G, XM_011511454.1:c.2342C>G, XM_011511458.4:c.2336C>G, XM_011511458.3:c.2336C>G, XM_011511458.2:c.2336C>G, XM_011511458.1:c.2336C>G, XM_011511459.4:c.2267C>G, XM_011511459.3:c.2267C>G, XM_011511459.2:c.2267C>G, XM_011511459.1:c.2267C>G, XM_011511460.4:c.2264C>G, XM_011511460.3:c.2264C>G, XM_011511460.2:c.2264C>G, XM_011511460.1:c.2264C>G, XM_011511461.4:c.2258C>G, XM_011511461.3:c.2258C>G, XM_011511461.2:c.2258C>G, XM_011511461.1:c.2258C>G, XM_011511462.4:c.2171C>G, XM_011511462.3:c.2171C>G, XM_011511462.2:c.2171C>G, XM_011511462.1:c.2171C>G, NM_017991.3:c.2003C>G, NM_001115016.3:c.2264C>G, NM_001115016.2:c.2264C>G, NM_001349259.2:c.2081C>G, NM_001349259.1:c.2081C>G, NM_001349257.2:c.2342C>G, NM_001349257.1:c.2342C>G, NM_001349258.2:c.2336C>G, NM_001349258.1:c.2336C>G, NR_047653.2:n.2405C>G, NR_047653.1:n.2472C>G, NR_047654.2:n.2399C>G, NR_047654.1:n.2466C>G, NM_001349261.2:c.1658C>G, NM_001349261.1:c.1658C>G, XM_005263987.2:c.2258C>G, XM_005263987.1:c.2258C>G, NR_047655.2:n.2331C>G, NR_047655.1:n.2398C>G, NM_001349260.2:c.1709C>G, NM_001349260.1:c.1709C>G, NR_047656.2:n.2253C>G, NR_047656.1:n.2320C>G, NM_017991.2:c.1922C>G, NM_001349262.2:c.1658C>G, NM_001349262.1:c.1658C>G, NM_001349256.2:c.2342C>G, NM_001349256.1:c.2342C>G, XM_047445028.1:c.2264C>G, XM_047444998.1:c.2342C>G, XM_047445024.1:c.2264C>G, XM_047445030.1:c.2258C>G, XM_047445012.1:c.2264C>G, XM_047445015.1:c.2264C>G, XM_047445018.1:c.2264C>G, XM_047445013.1:c.2264C>G, XM_047445021.1:c.2258C>G, XM_047445031.1:c.2189C>G, XM_047445032.1:c.2093C>G, XM_047445033.1:c.2087C>G, XM_047445048.1:c.1574C>G, XM_047445047.1:c.1580C>G, XM_047445007.1:c.2264C>G, XM_047445006.1:c.2264C>G, XM_047445010.1:c.2258C>G, XM_047444995.1:c.2342C>G, XM_047444996.1:c.2342C>G, XM_047445005.1:c.2264C>G, XM_047445034.1:c.1943C>G, XM_047445042.1:c.1724C>G, XM_047445043.1:c.1658C>G, XM_047445035.1:c.2232C>G, XM_047445046.1:c.1658C>G, XP_011509759.1:p.Thr781Ser, XP_011509757.1:p.Thr781Ser, XP_011509758.1:p.Thr781Ser, XP_011509756.1:p.Thr781Ser, XP_011509760.1:p.Thr779Ser, XP_011509761.1:p.Thr756Ser, XP_011509762.1:p.Thr755Ser, XP_011509763.1:p.Thr753Ser, XP_011509764.1:p.Thr724Ser, NP_001108488.1:p.Thr755Ser, NP_001336188.1:p.Thr694Ser, NP_001336186.1:p.Thr781Ser, NP_001336187.1:p.Thr779Ser, NP_001336190.1:p.Thr553Ser, XP_005264044.1:p.Thr753Ser, NP_001336189.1:p.Thr570Ser, NP_001336191.1:p.Thr553Ser, NP_001336185.1:p.Thr781Ser, XP_047300984.1:p.Thr755Ser, XP_047300954.1:p.Thr781Ser, XP_047300980.1:p.Thr755Ser, XP_047300986.1:p.Thr753Ser, XP_047300968.1:p.Thr755Ser, XP_047300971.1:p.Thr755Ser, XP_047300974.1:p.Thr755Ser, XP_047300969.1:p.Thr755Ser, XP_047300977.1:p.Thr753Ser, XP_047300987.1:p.Thr730Ser, XP_047300988.1:p.Thr698Ser, XP_047300989.1:p.Thr696Ser, XP_047301004.1:p.Thr525Ser, XP_047301003.1:p.Thr527Ser, XP_047300963.1:p.Thr755Ser, XP_047300962.1:p.Thr755Ser, XP_047300966.1:p.Thr753Ser, XP_047300951.1:p.Thr781Ser, XP_047300952.1:p.Thr781Ser, XP_047300961.1:p.Thr755Ser, XP_047300990.1:p.Thr648Ser, XP_047300998.1:p.Thr575Ser, XP_047300999.1:p.Thr553Ser, XP_047300991.1:p.His744Gln, XP_047301002.1:p.Thr553Ser

                              15.

                              rs1474049050 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                2:96612467 (GRCh38)
                                2:97278204 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:96612466:G:C
                                Gene:
                                KANSL3 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000224/1 (ALFA)
                                C=0.000007/1 (GnomAD)
                                C=0.000223/1 (Estonian)
                                HGVS:
                                NC_000002.12:g.96612467G>C, NC_000002.11:g.97278204G>C, NM_017991.4:c.748C>G, XM_011511457.4:c.1009C>G, XM_011511457.3:c.1009C>G, XM_011511457.2:c.1009C>G, XM_011511457.1:c.1009C>G, XM_011511455.4:c.1009C>G, XM_011511455.3:c.1009C>G, XM_011511455.2:c.1009C>G, XM_011511455.1:c.1009C>G, XM_011511456.4:c.1009C>G, XM_011511456.3:c.1009C>G, XM_011511456.2:c.1009C>G, XM_011511456.1:c.1009C>G, XM_011511454.4:c.1009C>G, XM_011511454.3:c.1009C>G, XM_011511454.2:c.1009C>G, XM_011511454.1:c.1009C>G, XM_011511458.4:c.1009C>G, XM_011511458.3:c.1009C>G, XM_011511458.2:c.1009C>G, XM_011511458.1:c.1009C>G, XM_011511459.4:c.1009C>G, XM_011511459.3:c.1009C>G, XM_011511459.2:c.1009C>G, XM_011511459.1:c.1009C>G, XM_011511460.4:c.1009C>G, XM_011511460.3:c.1009C>G, XM_011511460.2:c.1009C>G, XM_011511460.1:c.1009C>G, XM_011511461.4:c.1009C>G, XM_011511461.3:c.1009C>G, XM_011511461.2:c.1009C>G, XM_011511461.1:c.1009C>G, XM_011511462.4:c.838C>G, XM_011511462.3:c.838C>G, XM_011511462.2:c.838C>G, XM_011511462.1:c.838C>G, NM_017991.3:c.748C>G, NM_001115016.3:c.1009C>G, NM_001115016.2:c.1009C>G, NM_001349259.2:c.748C>G, NM_001349259.1:c.748C>G, NM_001349257.2:c.1009C>G, NM_001349257.1:c.1009C>G, NM_001349258.2:c.1009C>G, NM_001349258.1:c.1009C>G, NR_047653.2:n.1150C>G, NR_047653.1:n.1217C>G, NR_047654.2:n.1150C>G, NR_047654.1:n.1217C>G, NM_001349261.2:c.325C>G, NM_001349261.1:c.325C>G, XM_005263987.2:c.1009C>G, XM_005263987.1:c.1009C>G, NR_047655.2:n.998C>G, NR_047655.1:n.1065C>G, NM_001349260.2:c.391C>G, NM_001349260.1:c.391C>G, NR_146099.2:n.1150C>G, NR_146099.1:n.1217C>G, NR_047656.2:n.998C>G, NR_047656.1:n.1065C>G, NM_017991.2:c.673C>G, NR_047657.2:n.1089C>G, NR_047657.1:n.1156C>G, NR_146101.2:n.998C>G, NR_146101.1:n.1065C>G, NR_146102.2:n.1051C>G, NR_146102.1:n.1118C>G, NM_001349262.2:c.325C>G, NM_001349262.1:c.325C>G, NR_146098.2:n.1089C>G, NR_146098.1:n.1156C>G, NR_146100.2:n.998C>G, NR_146100.1:n.1065C>G, NR_047658.2:n.1064C>G, NR_047658.1:n.1133C>G, NM_001349256.2:c.1009C>G, NM_001349256.1:c.1009C>G, XM_047445028.1:c.1009C>G, XM_047444998.1:c.1009C>G, XM_047445024.1:c.1009C>G, XM_047445030.1:c.1009C>G, XM_047445012.1:c.1009C>G, XM_047445015.1:c.1009C>G, XM_047445018.1:c.1009C>G, XM_047445013.1:c.1009C>G, XM_047445021.1:c.1009C>G, XM_047445031.1:c.1009C>G, XM_047445032.1:c.838C>G, XM_047445033.1:c.838C>G, XM_047445048.1:c.325C>G, XM_047445047.1:c.325C>G, XM_047445007.1:c.1009C>G, XM_047445006.1:c.1009C>G, XM_047445010.1:c.1009C>G, XM_047444995.1:c.1009C>G, XM_047444996.1:c.1009C>G, XM_047445005.1:c.1009C>G, XM_047445034.1:c.610C>G, XM_047445042.1:c.391C>G, XM_047445043.1:c.325C>G, XM_047445039.1:c.1009C>G, XM_047445035.1:c.1009C>G, XM_047445046.1:c.325C>G, NM_017991.1:c.748C>G, XM_047445049.1:c.1009C>G, XM_047445052.1:c.1009C>G, XP_011509759.1:p.Leu337Val, XP_011509757.1:p.Leu337Val, XP_011509758.1:p.Leu337Val, XP_011509756.1:p.Leu337Val, XP_011509760.1:p.Leu337Val, XP_011509761.1:p.Leu337Val, XP_011509762.1:p.Leu337Val, XP_011509763.1:p.Leu337Val, XP_011509764.1:p.Leu280Val, NP_001108488.1:p.Leu337Val, NP_001336188.1:p.Leu250Val, NP_001336186.1:p.Leu337Val, NP_001336187.1:p.Leu337Val, NP_001336190.1:p.Leu109Val, XP_005264044.1:p.Leu337Val, NP_001336189.1:p.Leu131Val, NP_001336191.1:p.Leu109Val, NP_001336185.1:p.Leu337Val, XP_047300984.1:p.Leu337Val, XP_047300954.1:p.Leu337Val, XP_047300980.1:p.Leu337Val, XP_047300986.1:p.Leu337Val, XP_047300968.1:p.Leu337Val, XP_047300971.1:p.Leu337Val, XP_047300974.1:p.Leu337Val, XP_047300969.1:p.Leu337Val, XP_047300977.1:p.Leu337Val, XP_047300987.1:p.Leu337Val, XP_047300988.1:p.Leu280Val, XP_047300989.1:p.Leu280Val, XP_047301004.1:p.Leu109Val, XP_047301003.1:p.Leu109Val, XP_047300963.1:p.Leu337Val, XP_047300962.1:p.Leu337Val, XP_047300966.1:p.Leu337Val, XP_047300951.1:p.Leu337Val, XP_047300952.1:p.Leu337Val, XP_047300961.1:p.Leu337Val, XP_047300990.1:p.Leu204Val, XP_047300998.1:p.Leu131Val, XP_047300999.1:p.Leu109Val, XP_047300995.1:p.Leu337Val, XP_047300991.1:p.Leu337Val, XP_047301002.1:p.Leu109Val, XP_047301005.1:p.Leu337Val, XP_047301008.1:p.Leu337Val

                                16.

                                rs1473408579 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  2:96612869 (GRCh38)
                                  2:97278606 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:96612868:G:A
                                  Gene:
                                  KANSL3 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  A=0.0005/1 (Korea1K)
                                  HGVS:
                                  NC_000002.12:g.96612869G>A, NC_000002.11:g.97278606G>A, NM_017991.4:c.600C>T, XM_011511457.4:c.861C>T, XM_011511457.3:c.861C>T, XM_011511457.2:c.861C>T, XM_011511457.1:c.861C>T, XM_011511455.4:c.861C>T, XM_011511455.3:c.861C>T, XM_011511455.2:c.861C>T, XM_011511455.1:c.861C>T, XM_011511456.4:c.861C>T, XM_011511456.3:c.861C>T, XM_011511456.2:c.861C>T, XM_011511456.1:c.861C>T, XM_011511454.4:c.861C>T, XM_011511454.3:c.861C>T, XM_011511454.2:c.861C>T, XM_011511454.1:c.861C>T, XM_011511458.4:c.861C>T, XM_011511458.3:c.861C>T, XM_011511458.2:c.861C>T, XM_011511458.1:c.861C>T, XM_011511459.4:c.861C>T, XM_011511459.3:c.861C>T, XM_011511459.2:c.861C>T, XM_011511459.1:c.861C>T, XM_011511460.4:c.861C>T, XM_011511460.3:c.861C>T, XM_011511460.2:c.861C>T, XM_011511460.1:c.861C>T, XM_011511461.4:c.861C>T, XM_011511461.3:c.861C>T, XM_011511461.2:c.861C>T, XM_011511461.1:c.861C>T, XM_011511462.4:c.690C>T, XM_011511462.3:c.690C>T, XM_011511462.2:c.690C>T, XM_011511462.1:c.690C>T, NM_017991.3:c.600C>T, NM_001115016.3:c.861C>T, NM_001115016.2:c.861C>T, NM_001349259.2:c.600C>T, NM_001349259.1:c.600C>T, NM_001349257.2:c.861C>T, NM_001349257.1:c.861C>T, NM_001349258.2:c.861C>T, NM_001349258.1:c.861C>T, NR_047653.2:n.1002C>T, NR_047653.1:n.1069C>T, NR_047654.2:n.1002C>T, NR_047654.1:n.1069C>T, NM_001349261.2:c.177C>T, NM_001349261.1:c.177C>T, XM_005263987.2:c.861C>T, XM_005263987.1:c.861C>T, NR_047655.2:n.850C>T, NR_047655.1:n.917C>T, NM_001349260.2:c.243C>T, NM_001349260.1:c.243C>T, NR_146099.2:n.1002C>T, NR_146099.1:n.1069C>T, NR_047656.2:n.850C>T, NR_047656.1:n.917C>T, NM_017991.2:c.525C>T, NR_047657.2:n.941C>T, NR_047657.1:n.1008C>T, NR_146101.2:n.850C>T, NR_146101.1:n.917C>T, NR_146102.2:n.903C>T, NR_146102.1:n.970C>T, NM_001349262.2:c.177C>T, NM_001349262.1:c.177C>T, NR_146098.2:n.941C>T, NR_146098.1:n.1008C>T, NR_146100.2:n.850C>T, NR_146100.1:n.917C>T, NR_047658.2:n.916C>T, NR_047658.1:n.985C>T, NM_001349256.2:c.861C>T, NM_001349256.1:c.861C>T, XM_047445028.1:c.861C>T, XM_047444998.1:c.861C>T, XM_047445024.1:c.861C>T, XM_047445030.1:c.861C>T, XM_047445012.1:c.861C>T, XM_047445015.1:c.861C>T, XM_047445018.1:c.861C>T, XM_047445013.1:c.861C>T, XM_047445021.1:c.861C>T, XM_047445031.1:c.861C>T, XM_047445032.1:c.690C>T, XM_047445033.1:c.690C>T, XM_047445048.1:c.177C>T, XM_047445047.1:c.177C>T, XM_047445007.1:c.861C>T, XM_047445006.1:c.861C>T, XM_047445010.1:c.861C>T, XM_047444995.1:c.861C>T, XM_047444996.1:c.861C>T, XM_047445005.1:c.861C>T, XM_047445034.1:c.462C>T, XM_047445042.1:c.243C>T, XM_047445043.1:c.177C>T, XM_047445039.1:c.861C>T, XM_047445035.1:c.861C>T, XM_047445046.1:c.177C>T, NM_017991.1:c.600C>T, XM_047445049.1:c.861C>T, XM_047445052.1:c.861C>T

                                  17.

                                  rs1473245196 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    2:96602273 (GRCh38)
                                    2:97268010 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:96602272:G:A
                                    Gene:
                                    KANSL3 (Varview)
                                    Functional Consequence:
                                    missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
                                    HGVS:
                                    NC_000002.12:g.96602273G>A, NC_000002.11:g.97268010G>A, NM_017991.4:c.2064C>T, XM_011511457.4:c.2403C>T, XM_011511457.3:c.2403C>T, XM_011511457.2:c.2403C>T, XM_011511457.1:c.2403C>T, XM_011511455.4:c.2403C>T, XM_011511455.3:c.2403C>T, XM_011511455.2:c.2403C>T, XM_011511455.1:c.2403C>T, XM_011511456.4:c.2403C>T, XM_011511456.3:c.2403C>T, XM_011511456.2:c.2403C>T, XM_011511456.1:c.2403C>T, XM_011511454.4:c.2403C>T, XM_011511454.3:c.2403C>T, XM_011511454.2:c.2403C>T, XM_011511454.1:c.2403C>T, XM_011511458.4:c.2397C>T, XM_011511458.3:c.2397C>T, XM_011511458.2:c.2397C>T, XM_011511458.1:c.2397C>T, XM_011511459.4:c.2328C>T, XM_011511459.3:c.2328C>T, XM_011511459.2:c.2328C>T, XM_011511459.1:c.2328C>T, XM_011511460.4:c.2325C>T, XM_011511460.3:c.2325C>T, XM_011511460.2:c.2325C>T, XM_011511460.1:c.2325C>T, XM_011511461.4:c.2319C>T, XM_011511461.3:c.2319C>T, XM_011511461.2:c.2319C>T, XM_011511461.1:c.2319C>T, XM_011511462.4:c.2232C>T, XM_011511462.3:c.2232C>T, XM_011511462.2:c.2232C>T, XM_011511462.1:c.2232C>T, NM_017991.3:c.2064C>T, NM_001115016.3:c.2325C>T, NM_001115016.2:c.2325C>T, NM_001349259.2:c.2142C>T, NM_001349259.1:c.2142C>T, NM_001349257.2:c.2403C>T, NM_001349257.1:c.2403C>T, NM_001349258.2:c.2397C>T, NM_001349258.1:c.2397C>T, NR_047653.2:n.2466C>T, NR_047653.1:n.2533C>T, NR_047654.2:n.2460C>T, NR_047654.1:n.2527C>T, NM_001349261.2:c.1719C>T, NM_001349261.1:c.1719C>T, XM_005263987.2:c.2319C>T, XM_005263987.1:c.2319C>T, NR_047655.2:n.2392C>T, NR_047655.1:n.2459C>T, NM_001349260.2:c.1770C>T, NM_001349260.1:c.1770C>T, NR_047656.2:n.2314C>T, NR_047656.1:n.2381C>T, NM_017991.2:c.1983C>T, NM_001349262.2:c.1719C>T, NM_001349262.1:c.1719C>T, NM_001349256.2:c.2403C>T, NM_001349256.1:c.2403C>T, XM_047445028.1:c.2325C>T, XM_047444998.1:c.2403C>T, XM_047445024.1:c.2325C>T, XM_047445030.1:c.2319C>T, XM_047445012.1:c.2325C>T, XM_047445015.1:c.2325C>T, XM_047445018.1:c.2325C>T, XM_047445013.1:c.2325C>T, XM_047445021.1:c.2319C>T, XM_047445031.1:c.2250C>T, XM_047445032.1:c.2154C>T, XM_047445033.1:c.2148C>T, XM_047445048.1:c.1635C>T, XM_047445047.1:c.1641C>T, XM_047445007.1:c.2325C>T, XM_047445006.1:c.2325C>T, XM_047445010.1:c.2319C>T, XM_047444995.1:c.2403C>T, XM_047444996.1:c.2403C>T, XM_047445005.1:c.2325C>T, XM_047445034.1:c.2004C>T, XM_047445042.1:c.1785C>T, XM_047445043.1:c.1719C>T, XM_047445035.1:c.2293C>T, XM_047445046.1:c.1719C>T, XP_047300991.1:p.His765Tyr

                                    18.

                                    rs1470745300 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      2:96605432 (GRCh38)
                                      2:97271169 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:96605431:A:G
                                      Gene:
                                      KANSL3 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,synonymous_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000002.12:g.96605432A>G, NC_000002.11:g.97271169A>G, NM_017991.4:c.1560T>C, XM_011511457.4:c.1899T>C, XM_011511457.3:c.1899T>C, XM_011511457.2:c.1899T>C, XM_011511457.1:c.1899T>C, XM_011511455.4:c.1899T>C, XM_011511455.3:c.1899T>C, XM_011511455.2:c.1899T>C, XM_011511455.1:c.1899T>C, XM_011511456.4:c.1899T>C, XM_011511456.3:c.1899T>C, XM_011511456.2:c.1899T>C, XM_011511456.1:c.1899T>C, XM_011511454.4:c.1899T>C, XM_011511454.3:c.1899T>C, XM_011511454.2:c.1899T>C, XM_011511454.1:c.1899T>C, XM_011511458.4:c.1899T>C, XM_011511458.3:c.1899T>C, XM_011511458.2:c.1899T>C, XM_011511458.1:c.1899T>C, XM_011511459.4:c.1824T>C, XM_011511459.3:c.1824T>C, XM_011511459.2:c.1824T>C, XM_011511459.1:c.1824T>C, XM_011511460.4:c.1821T>C, XM_011511460.3:c.1821T>C, XM_011511460.2:c.1821T>C, XM_011511460.1:c.1821T>C, XM_011511461.4:c.1821T>C, XM_011511461.3:c.1821T>C, XM_011511461.2:c.1821T>C, XM_011511461.1:c.1821T>C, XM_011511462.4:c.1728T>C, XM_011511462.3:c.1728T>C, XM_011511462.2:c.1728T>C, XM_011511462.1:c.1728T>C, NM_017991.3:c.1560T>C, NM_001115016.3:c.1821T>C, NM_001115016.2:c.1821T>C, NM_001349259.2:c.1638T>C, NM_001349259.1:c.1638T>C, NM_001349257.2:c.1899T>C, NM_001349257.1:c.1899T>C, NM_001349258.2:c.1899T>C, NM_001349258.1:c.1899T>C, NR_047653.2:n.1962T>C, NR_047653.1:n.2029T>C, NR_047654.2:n.1962T>C, NR_047654.1:n.2029T>C, NM_001349261.2:c.1215T>C, NM_001349261.1:c.1215T>C, XM_005263987.2:c.1821T>C, XM_005263987.1:c.1821T>C, NR_047655.2:n.1888T>C, NR_047655.1:n.1955T>C, NM_001349260.2:c.1266T>C, NM_001349260.1:c.1266T>C, NR_146099.2:n.2040T>C, NR_146099.1:n.2107T>C, NR_047656.2:n.1810T>C, NR_047656.1:n.1877T>C, NM_017991.2:c.1485T>C, NR_047657.2:n.1979T>C, NR_047657.1:n.2046T>C, NR_146101.2:n.1888T>C, NR_146101.1:n.1955T>C, NR_146102.2:n.1967T>C, NR_146102.1:n.2034T>C, NM_001349262.2:c.1215T>C, NM_001349262.1:c.1215T>C, NR_146098.2:n.1901T>C, NR_146098.1:n.1968T>C, NR_146100.2:n.1888T>C, NR_146100.1:n.1955T>C, NR_047658.2:n.1876T>C, NR_047658.1:n.1945T>C, NM_001349256.2:c.1899T>C, NM_001349256.1:c.1899T>C, XM_047445028.1:c.1821T>C, XM_047444998.1:c.1899T>C, XM_047445024.1:c.1821T>C, XM_047445030.1:c.1821T>C, XM_047445012.1:c.1821T>C, XM_047445015.1:c.1821T>C, XM_047445018.1:c.1821T>C, XM_047445013.1:c.1821T>C, XM_047445021.1:c.1821T>C, XM_047445031.1:c.1746T>C, XM_047445032.1:c.1650T>C, XM_047445033.1:c.1650T>C, XM_047445048.1:c.1137T>C, XM_047445047.1:c.1137T>C, XM_047445007.1:c.1821T>C, XM_047445006.1:c.1821T>C, XM_047445010.1:c.1821T>C, XM_047444995.1:c.1899T>C, XM_047444996.1:c.1899T>C, XM_047445005.1:c.1821T>C, XM_047445034.1:c.1500T>C, XM_047445042.1:c.1281T>C, XM_047445043.1:c.1215T>C, XM_047445039.1:c.1899T>C, XM_047445035.1:c.1899T>C, XM_047445046.1:c.1215T>C, NM_017991.1:c.1560T>C

                                      19.

                                      rs1470685483 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        2:96609006 (GRCh38)
                                        2:97274743 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:96609005:G:C
                                        Gene:
                                        KANSL3 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000006/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000002.12:g.96609006G>C, NC_000002.11:g.97274743G>C, NG_082597.1:g.1117G>C, NM_017991.4:c.1181C>G, XM_011511457.4:c.1442C>G, XM_011511457.3:c.1442C>G, XM_011511457.2:c.1442C>G, XM_011511457.1:c.1442C>G, XM_011511455.4:c.1442C>G, XM_011511455.3:c.1442C>G, XM_011511455.2:c.1442C>G, XM_011511455.1:c.1442C>G, XM_011511456.4:c.1442C>G, XM_011511456.3:c.1442C>G, XM_011511456.2:c.1442C>G, XM_011511456.1:c.1442C>G, XM_011511454.4:c.1442C>G, XM_011511454.3:c.1442C>G, XM_011511454.2:c.1442C>G, XM_011511454.1:c.1442C>G, XM_011511458.4:c.1442C>G, XM_011511458.3:c.1442C>G, XM_011511458.2:c.1442C>G, XM_011511458.1:c.1442C>G, XM_011511459.4:c.1367C>G, XM_011511459.3:c.1367C>G, XM_011511459.2:c.1367C>G, XM_011511459.1:c.1367C>G, XM_011511460.4:c.1442C>G, XM_011511460.3:c.1442C>G, XM_011511460.2:c.1442C>G, XM_011511460.1:c.1442C>G, XM_011511461.4:c.1442C>G, XM_011511461.3:c.1442C>G, XM_011511461.2:c.1442C>G, XM_011511461.1:c.1442C>G, XM_011511462.4:c.1271C>G, XM_011511462.3:c.1271C>G, XM_011511462.2:c.1271C>G, XM_011511462.1:c.1271C>G, NM_017991.3:c.1181C>G, NM_001115016.3:c.1442C>G, NM_001115016.2:c.1442C>G, NM_001349259.2:c.1181C>G, NM_001349259.1:c.1181C>G, NM_001349257.2:c.1442C>G, NM_001349257.1:c.1442C>G, NM_001349258.2:c.1442C>G, NM_001349258.1:c.1442C>G, NR_047653.2:n.1583C>G, NR_047653.1:n.1650C>G, NR_047654.2:n.1583C>G, NR_047654.1:n.1650C>G, NM_001349261.2:c.758C>G, NM_001349261.1:c.758C>G, XM_005263987.2:c.1442C>G, XM_005263987.1:c.1442C>G, NR_047655.2:n.1431C>G, NR_047655.1:n.1498C>G, NM_001349260.2:c.824C>G, NM_001349260.1:c.824C>G, NR_146099.2:n.1583C>G, NR_146099.1:n.1650C>G, NR_047656.2:n.1431C>G, NR_047656.1:n.1498C>G, NM_017991.2:c.1106C>G, NR_047657.2:n.1522C>G, NR_047657.1:n.1589C>G, NR_146101.2:n.1431C>G, NR_146101.1:n.1498C>G, NR_146102.2:n.1484C>G, NR_146102.1:n.1551C>G, NM_001349262.2:c.758C>G, NM_001349262.1:c.758C>G, NR_146098.2:n.1522C>G, NR_146098.1:n.1589C>G, NR_146100.2:n.1431C>G, NR_146100.1:n.1498C>G, NR_047658.2:n.1497C>G, NR_047658.1:n.1566C>G, NM_001349256.2:c.1442C>G, NM_001349256.1:c.1442C>G, XM_047445028.1:c.1442C>G, XM_047444998.1:c.1442C>G, XM_047445024.1:c.1442C>G, XM_047445030.1:c.1442C>G, XM_047445012.1:c.1442C>G, XM_047445015.1:c.1442C>G, XM_047445018.1:c.1442C>G, XM_047445013.1:c.1442C>G, XM_047445021.1:c.1442C>G, XM_047445031.1:c.1367C>G, XM_047445032.1:c.1271C>G, XM_047445033.1:c.1271C>G, XM_047445048.1:c.758C>G, XM_047445047.1:c.758C>G, XM_047445007.1:c.1442C>G, XM_047445006.1:c.1442C>G, XM_047445010.1:c.1442C>G, XM_047444995.1:c.1442C>G, XM_047444996.1:c.1442C>G, XM_047445005.1:c.1442C>G, XM_047445034.1:c.1043C>G, XM_047445042.1:c.824C>G, XM_047445043.1:c.758C>G, XM_047445039.1:c.1442C>G, XM_047445035.1:c.1442C>G, XM_047445046.1:c.758C>G, NM_017991.1:c.1181C>G, XM_047445049.1:c.1442C>G, XM_047445052.1:c.1442C>G, XP_011509759.1:p.Ser481Cys, XP_011509757.1:p.Ser481Cys, XP_011509758.1:p.Ser481Cys, XP_011509756.1:p.Ser481Cys, XP_011509760.1:p.Ser481Cys, XP_011509761.1:p.Ser456Cys, XP_011509762.1:p.Ser481Cys, XP_011509763.1:p.Ser481Cys, XP_011509764.1:p.Ser424Cys, NP_001108488.1:p.Ser481Cys, NP_001336188.1:p.Ser394Cys, NP_001336186.1:p.Ser481Cys, NP_001336187.1:p.Ser481Cys, NP_001336190.1:p.Ser253Cys, XP_005264044.1:p.Ser481Cys, NP_001336189.1:p.Ser275Cys, NP_001336191.1:p.Ser253Cys, NP_001336185.1:p.Ser481Cys, XP_047300984.1:p.Ser481Cys, XP_047300954.1:p.Ser481Cys, XP_047300980.1:p.Ser481Cys, XP_047300986.1:p.Ser481Cys, XP_047300968.1:p.Ser481Cys, XP_047300971.1:p.Ser481Cys, XP_047300974.1:p.Ser481Cys, XP_047300969.1:p.Ser481Cys, XP_047300977.1:p.Ser481Cys, XP_047300987.1:p.Ser456Cys, XP_047300988.1:p.Ser424Cys, XP_047300989.1:p.Ser424Cys, XP_047301004.1:p.Ser253Cys, XP_047301003.1:p.Ser253Cys, XP_047300963.1:p.Ser481Cys, XP_047300962.1:p.Ser481Cys, XP_047300966.1:p.Ser481Cys, XP_047300951.1:p.Ser481Cys, XP_047300952.1:p.Ser481Cys, XP_047300961.1:p.Ser481Cys, XP_047300990.1:p.Ser348Cys, XP_047300998.1:p.Ser275Cys, XP_047300999.1:p.Ser253Cys, XP_047300995.1:p.Ser481Cys, XP_047300991.1:p.Ser481Cys, XP_047301002.1:p.Ser253Cys, XP_047301005.1:p.Ser481Cys, XP_047301008.1:p.Ser481Cys

                                        20.

                                        rs1469356203 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          2:96636952 (GRCh38)
                                          2:97302689 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:96636951:C:A
                                          Gene:
                                          KANSL3 (Varview)
                                          Functional Consequence:
                                          missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000007/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000002.12:g.96636952C>A, NC_000002.11:g.97302689C>A, NM_017991.4:c.-139G>T, XM_011511457.4:c.184G>T, XM_011511457.3:c.184G>T, XM_011511457.2:c.184G>T, XM_011511457.1:c.184G>T, XM_011511455.4:c.184G>T, XM_011511455.3:c.184G>T, XM_011511455.2:c.184G>T, XM_011511455.1:c.184G>T, XM_011511456.4:c.184G>T, XM_011511456.3:c.184G>T, XM_011511456.2:c.184G>T, XM_011511456.1:c.184G>T, XM_011511454.4:c.184G>T, XM_011511454.3:c.184G>T, XM_011511454.2:c.184G>T, XM_011511454.1:c.184G>T, XM_011511458.4:c.184G>T, XM_011511458.3:c.184G>T, XM_011511458.2:c.184G>T, XM_011511458.1:c.184G>T, XM_011511459.4:c.184G>T, XM_011511459.3:c.184G>T, XM_011511459.2:c.184G>T, XM_011511459.1:c.184G>T, XM_011511460.4:c.184G>T, XM_011511460.3:c.184G>T, XM_011511460.2:c.184G>T, XM_011511460.1:c.184G>T, XM_011511461.4:c.184G>T, XM_011511461.3:c.184G>T, XM_011511461.2:c.184G>T, XM_011511461.1:c.184G>T, XM_011511462.4:c.184G>T, XM_011511462.3:c.184G>T, XM_011511462.2:c.184G>T, XM_011511462.1:c.184G>T, NM_017991.3:c.-139G>T, NM_001115016.3:c.184G>T, NM_001115016.2:c.184G>T, NM_001349259.2:c.-139G>T, NM_001349259.1:c.-139G>T, NM_001349257.2:c.184G>T, NM_001349257.1:c.184G>T, NM_001349258.2:c.184G>T, NM_001349258.1:c.184G>T, NR_047653.2:n.264G>T, NR_047653.1:n.331G>T, NR_047654.2:n.264G>T, NR_047654.1:n.331G>T, NM_001349261.2:c.-463G>T, NM_001349261.1:c.-463G>T, XM_005263987.2:c.184G>T, XM_005263987.1:c.184G>T, NR_047655.2:n.264G>T, NR_047655.1:n.331G>T, NM_001349260.2:c.-344G>T, NM_001349260.1:c.-344G>T, NR_146099.2:n.264G>T, NR_146099.1:n.331G>T, NR_047656.2:n.264G>T, NR_047656.1:n.331G>T, NR_047657.2:n.264G>T, NR_047657.1:n.331G>T, NR_146101.2:n.264G>T, NR_146101.1:n.331G>T, NR_146102.2:n.264G>T, NR_146102.1:n.331G>T, NM_001349262.2:c.-224G>T, NM_001349262.1:c.-224G>T, NR_146098.2:n.264G>T, NR_146098.1:n.331G>T, NR_146100.2:n.264G>T, NR_146100.1:n.331G>T, NR_047658.2:n.277G>T, NR_047658.1:n.346G>T, NM_001349256.2:c.184G>T, NM_001349256.1:c.184G>T, XM_047445028.1:c.184G>T, XM_047444998.1:c.184G>T, XM_047445024.1:c.184G>T, XM_047445030.1:c.184G>T, XM_047445012.1:c.184G>T, XM_047445015.1:c.184G>T, XM_047445018.1:c.184G>T, XM_047445013.1:c.184G>T, XM_047445021.1:c.184G>T, XM_047445031.1:c.184G>T, XM_047445032.1:c.184G>T, XM_047445033.1:c.184G>T, XM_047445007.1:c.184G>T, XM_047445006.1:c.184G>T, XM_047445010.1:c.184G>T, XM_047444995.1:c.184G>T, XM_047444996.1:c.184G>T, XM_047445005.1:c.184G>T, XM_047445039.1:c.184G>T, XM_047445035.1:c.184G>T, XM_047445049.1:c.184G>T, XM_047445052.1:c.184G>T, XP_011509759.1:p.Val62Phe, XP_011509757.1:p.Val62Phe, XP_011509758.1:p.Val62Phe, XP_011509756.1:p.Val62Phe, XP_011509760.1:p.Val62Phe, XP_011509761.1:p.Val62Phe, XP_011509762.1:p.Val62Phe, XP_011509763.1:p.Val62Phe, XP_011509764.1:p.Val62Phe, NP_001108488.1:p.Val62Phe, NP_001336186.1:p.Val62Phe, NP_001336187.1:p.Val62Phe, XP_005264044.1:p.Val62Phe, NP_001336185.1:p.Val62Phe, XP_047300984.1:p.Val62Phe, XP_047300954.1:p.Val62Phe, XP_047300980.1:p.Val62Phe, XP_047300986.1:p.Val62Phe, XP_047300968.1:p.Val62Phe, XP_047300971.1:p.Val62Phe, XP_047300974.1:p.Val62Phe, XP_047300969.1:p.Val62Phe, XP_047300977.1:p.Val62Phe, XP_047300987.1:p.Val62Phe, XP_047300988.1:p.Val62Phe, XP_047300989.1:p.Val62Phe, XP_047300963.1:p.Val62Phe, XP_047300962.1:p.Val62Phe, XP_047300966.1:p.Val62Phe, XP_047300951.1:p.Val62Phe, XP_047300952.1:p.Val62Phe, XP_047300961.1:p.Val62Phe, XP_047300995.1:p.Val62Phe, XP_047300991.1:p.Val62Phe, XP_047301005.1:p.Val62Phe, XP_047301008.1:p.Val62Phe

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