U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 505

1.

rs1489493817 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    2:210023052 (GRCh38)
    2:210887776 (GRCh37)
    Canonical SPDI:
    NC_000002.12:210023051:G:A
    Gene:
    KANSL1L (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
    HGVS:
    NC_000002.12:g.210023052G>A, NC_000002.11:g.210887776G>A, XM_005246332.6:c.2834C>T, XM_005246332.5:c.2834C>T, XM_005246332.4:c.2834C>T, XM_005246332.3:c.2834C>T, XM_005246332.2:c.2834C>T, XM_005246332.1:c.2834C>T, XM_005246328.5:c.2960C>T, XM_005246328.4:c.2960C>T, XM_005246328.3:c.2960C>T, XM_005246328.2:c.2960C>T, XM_005246328.1:c.2960C>T, XM_005246329.5:c.2861C>T, XM_005246329.4:c.2861C>T, XM_005246329.3:c.2861C>T, XM_005246329.2:c.2861C>T, XM_005246329.1:c.2861C>T, NM_152519.4:c.2861C>T, NM_152519.3:c.2861C>T, NM_152519.2:c.2861C>T, XM_011510706.4:c.2861C>T, XM_011510706.3:c.2861C>T, XM_011510706.2:c.2861C>T, XM_011510706.1:c.2861C>T, XM_005246330.4:c.2861C>T, XM_005246330.3:c.2861C>T, XM_005246330.2:c.2861C>T, XM_005246330.1:c.2861C>T, XM_011510710.3:c.1577C>T, XM_011510710.2:c.1577C>T, XM_011510710.1:c.1577C>T, XM_017003431.2:c.1442C>T, XM_017003431.1:c.1442C>T, NM_001307976.2:c.2735C>T, NM_001307976.1:c.2735C>T, XM_017003430.2:c.2861C>T, XM_017003430.1:c.2861C>T, XM_047443489.1:c.2954C>T, XP_005246389.1:p.Thr945Ile, XP_005246385.1:p.Thr987Ile, XP_005246386.1:p.Thr954Ile, NP_689732.2:p.Thr954Ile, XP_011509008.1:p.Thr954Ile, XP_005246387.1:p.Thr954Ile, XP_011509012.1:p.Thr526Ile, XP_016858920.1:p.Thr481Ile, NP_001294905.1:p.Thr912Ile, XP_016858919.1:p.Thr954Ile, XP_047299445.1:p.Thr985Ile

    2.

    rs1487407852 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      2:210098098 (GRCh38)
      2:210962822 (GRCh37)
      Canonical SPDI:
      NC_000002.12:210098097:C:A
      Gene:
      KANSL1L (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.210098098C>A, NC_000002.11:g.210962822C>A, XM_005246332.6:c.1637G>T, XM_005246332.5:c.1637G>T, XM_005246332.4:c.1637G>T, XM_005246332.3:c.1637G>T, XM_005246332.2:c.1637G>T, XM_005246332.1:c.1637G>T, XM_005246334.6:c.1637G>T, XM_005246334.5:c.1637G>T, XM_005246334.4:c.1637G>T, XM_005246334.3:c.1637G>T, XM_005246334.2:c.1637G>T, XM_005246334.1:c.1637G>T, XM_005246328.5:c.1637G>T, XM_005246328.4:c.1637G>T, XM_005246328.3:c.1637G>T, XM_005246328.2:c.1637G>T, XM_005246328.1:c.1637G>T, XM_005246329.5:c.1538G>T, XM_005246329.4:c.1538G>T, XM_005246329.3:c.1538G>T, XM_005246329.2:c.1538G>T, XM_005246329.1:c.1538G>T, NM_152519.4:c.1538G>T, NM_152519.3:c.1538G>T, NM_152519.2:c.1538G>T, XM_011510706.4:c.1538G>T, XM_011510706.3:c.1538G>T, XM_011510706.2:c.1538G>T, XM_011510706.1:c.1538G>T, XM_005246330.4:c.1538G>T, XM_005246330.3:c.1538G>T, XM_005246330.2:c.1538G>T, XM_005246330.1:c.1538G>T, XM_006712320.4:c.1637G>T, XM_006712320.3:c.1637G>T, XM_006712320.2:c.1637G>T, XM_006712320.1:c.1637G>T, XM_011510710.3:c.254G>T, XM_011510710.2:c.254G>T, XM_011510710.1:c.254G>T, XM_011510709.3:c.1637G>T, XM_011510709.2:c.1637G>T, XM_011510709.1:c.1637G>T, NM_001307976.2:c.1538G>T, NM_001307976.1:c.1538G>T, XM_017003430.2:c.1538G>T, XM_017003430.1:c.1538G>T, XM_047443489.1:c.1631G>T, XM_047443492.1:c.1538G>T, XM_047443493.1:c.1538G>T, XM_047443490.1:c.1637G>T, XM_047443491.1:c.1637G>T, XP_005246389.1:p.Gly546Val, XP_005246391.1:p.Gly546Val, XP_005246385.1:p.Gly546Val, XP_005246386.1:p.Gly513Val, NP_689732.2:p.Gly513Val, XP_011509008.1:p.Gly513Val, XP_005246387.1:p.Gly513Val, XP_006712383.1:p.Gly546Val, XP_011509012.1:p.Gly85Val, XP_011509011.1:p.Gly546Val, NP_001294905.1:p.Gly513Val, XP_016858919.1:p.Gly513Val, XP_047299445.1:p.Gly544Val, XP_047299448.1:p.Gly513Val, XP_047299449.1:p.Gly513Val, XP_047299446.1:p.Gly546Val, XP_047299447.1:p.Gly546Val

      3.

      rs1485457806 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        2:210040447 (GRCh38)
        2:210905171 (GRCh37)
        Canonical SPDI:
        NC_000002.12:210040446:C:A
        Gene:
        KANSL1L (Varview), KANSL1L-AS1 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0.00005/1 (ALFA)
        HGVS:
        NC_000002.12:g.210040447C>A, NC_000002.11:g.210905171C>A, XM_005246332.6:c.2101G>T, XM_005246332.5:c.2101G>T, XM_005246332.4:c.2101G>T, XM_005246332.3:c.2101G>T, XM_005246332.2:c.2101G>T, XM_005246332.1:c.2101G>T, XM_005246328.5:c.2101G>T, XM_005246328.4:c.2101G>T, XM_005246328.3:c.2101G>T, XM_005246328.2:c.2101G>T, XM_005246328.1:c.2101G>T, XM_005246329.5:c.2002G>T, XM_005246329.4:c.2002G>T, XM_005246329.3:c.2002G>T, XM_005246329.2:c.2002G>T, XM_005246329.1:c.2002G>T, NM_152519.4:c.2002G>T, NM_152519.3:c.2002G>T, NM_152519.2:c.2002G>T, XM_011510706.4:c.2002G>T, XM_011510706.3:c.2002G>T, XM_011510706.2:c.2002G>T, XM_011510706.1:c.2002G>T, XM_005246330.4:c.2002G>T, XM_005246330.3:c.2002G>T, XM_005246330.2:c.2002G>T, XM_005246330.1:c.2002G>T, XM_011510710.3:c.718G>T, XM_011510710.2:c.718G>T, XM_011510710.1:c.718G>T, XM_017003431.2:c.583G>T, XM_017003431.1:c.583G>T, NM_001307976.2:c.2002G>T, NM_001307976.1:c.2002G>T, XM_017003430.2:c.2002G>T, XM_017003430.1:c.2002G>T, XM_047443489.1:c.2095G>T, XP_005246389.1:p.Asp701Tyr, XP_005246385.1:p.Asp701Tyr, XP_005246386.1:p.Asp668Tyr, NP_689732.2:p.Asp668Tyr, XP_011509008.1:p.Asp668Tyr, XP_005246387.1:p.Asp668Tyr, XP_011509012.1:p.Asp240Tyr, XP_016858920.1:p.Asp195Tyr, NP_001294905.1:p.Asp668Tyr, XP_016858919.1:p.Asp668Tyr, XP_047299445.1:p.Asp699Tyr

        4.

        rs1484777358 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          2:210043948 (GRCh38)
          2:210908672 (GRCh37)
          Canonical SPDI:
          NC_000002.12:210043947:A:G
          Gene:
          KANSL1L (Varview), KANSL1L-AS1 (Varview)
          Functional Consequence:
          intron_variant,synonymous_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          G=0.000035/1 (TOMMO)
          HGVS:
          NC_000002.12:g.210043948A>G, NC_000002.11:g.210908672A>G, XM_005246332.6:c.2011T>C, XM_005246332.5:c.2011T>C, XM_005246332.4:c.2011T>C, XM_005246332.3:c.2011T>C, XM_005246332.2:c.2011T>C, XM_005246332.1:c.2011T>C, XM_005246328.5:c.2011T>C, XM_005246328.4:c.2011T>C, XM_005246328.3:c.2011T>C, XM_005246328.2:c.2011T>C, XM_005246328.1:c.2011T>C, XM_005246329.5:c.1912T>C, XM_005246329.4:c.1912T>C, XM_005246329.3:c.1912T>C, XM_005246329.2:c.1912T>C, XM_005246329.1:c.1912T>C, NM_152519.4:c.1912T>C, NM_152519.3:c.1912T>C, NM_152519.2:c.1912T>C, XM_011510706.4:c.1912T>C, XM_011510706.3:c.1912T>C, XM_011510706.2:c.1912T>C, XM_011510706.1:c.1912T>C, XM_005246330.4:c.1912T>C, XM_005246330.3:c.1912T>C, XM_005246330.2:c.1912T>C, XM_005246330.1:c.1912T>C, XM_011510710.3:c.628T>C, XM_011510710.2:c.628T>C, XM_011510710.1:c.628T>C, XM_017003431.2:c.493T>C, XM_017003431.1:c.493T>C, NM_001307976.2:c.1912T>C, NM_001307976.1:c.1912T>C, XM_017003430.2:c.1912T>C, XM_017003430.1:c.1912T>C, XM_047443489.1:c.2005T>C, XM_047443490.1:c.*80T>C

          5.

          rs1478118431 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            2:210040450 (GRCh38)
            2:210905174 (GRCh37)
            Canonical SPDI:
            NC_000002.12:210040449:C:T
            Gene:
            KANSL1L (Varview), KANSL1L-AS1 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000002.12:g.210040450C>T, NC_000002.11:g.210905174C>T, XM_005246332.6:c.2098G>A, XM_005246332.5:c.2098G>A, XM_005246332.4:c.2098G>A, XM_005246332.3:c.2098G>A, XM_005246332.2:c.2098G>A, XM_005246332.1:c.2098G>A, XM_005246328.5:c.2098G>A, XM_005246328.4:c.2098G>A, XM_005246328.3:c.2098G>A, XM_005246328.2:c.2098G>A, XM_005246328.1:c.2098G>A, XM_005246329.5:c.1999G>A, XM_005246329.4:c.1999G>A, XM_005246329.3:c.1999G>A, XM_005246329.2:c.1999G>A, XM_005246329.1:c.1999G>A, NM_152519.4:c.1999G>A, NM_152519.3:c.1999G>A, NM_152519.2:c.1999G>A, XM_011510706.4:c.1999G>A, XM_011510706.3:c.1999G>A, XM_011510706.2:c.1999G>A, XM_011510706.1:c.1999G>A, XM_005246330.4:c.1999G>A, XM_005246330.3:c.1999G>A, XM_005246330.2:c.1999G>A, XM_005246330.1:c.1999G>A, XM_011510710.3:c.715G>A, XM_011510710.2:c.715G>A, XM_011510710.1:c.715G>A, XM_017003431.2:c.580G>A, XM_017003431.1:c.580G>A, NM_001307976.2:c.1999G>A, NM_001307976.1:c.1999G>A, XM_017003430.2:c.1999G>A, XM_017003430.1:c.1999G>A, XM_047443489.1:c.2092G>A, XP_005246389.1:p.Val700Ile, XP_005246385.1:p.Val700Ile, XP_005246386.1:p.Val667Ile, NP_689732.2:p.Val667Ile, XP_011509008.1:p.Val667Ile, XP_005246387.1:p.Val667Ile, XP_011509012.1:p.Val239Ile, XP_016858920.1:p.Val194Ile, NP_001294905.1:p.Val667Ile, XP_016858919.1:p.Val667Ile, XP_047299445.1:p.Val698Ile

            6.

            rs1477449558 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              2:210024059 (GRCh38)
              2:210888783 (GRCh37)
              Canonical SPDI:
              NC_000002.12:210024058:A:C
              Gene:
              KANSL1L (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
              HGVS:
              NC_000002.12:g.210024059A>C, NC_000002.11:g.210888783A>C, XM_005246332.6:c.2680T>G, XM_005246332.5:c.2680T>G, XM_005246332.4:c.2680T>G, XM_005246332.3:c.2680T>G, XM_005246332.2:c.2680T>G, XM_005246332.1:c.2680T>G, XM_005246328.5:c.2806T>G, XM_005246328.4:c.2806T>G, XM_005246328.3:c.2806T>G, XM_005246328.2:c.2806T>G, XM_005246328.1:c.2806T>G, XM_005246329.5:c.2707T>G, XM_005246329.4:c.2707T>G, XM_005246329.3:c.2707T>G, XM_005246329.2:c.2707T>G, XM_005246329.1:c.2707T>G, NM_152519.4:c.2707T>G, NM_152519.3:c.2707T>G, NM_152519.2:c.2707T>G, XM_011510706.4:c.2707T>G, XM_011510706.3:c.2707T>G, XM_011510706.2:c.2707T>G, XM_011510706.1:c.2707T>G, XM_005246330.4:c.2707T>G, XM_005246330.3:c.2707T>G, XM_005246330.2:c.2707T>G, XM_005246330.1:c.2707T>G, XM_011510710.3:c.1423T>G, XM_011510710.2:c.1423T>G, XM_011510710.1:c.1423T>G, XM_017003431.2:c.1288T>G, XM_017003431.1:c.1288T>G, NM_001307976.2:c.2581T>G, NM_001307976.1:c.2581T>G, XM_017003430.2:c.2707T>G, XM_017003430.1:c.2707T>G, XM_047443489.1:c.2800T>G, XP_005246389.1:p.Ser894Ala, XP_005246385.1:p.Ser936Ala, XP_005246386.1:p.Ser903Ala, NP_689732.2:p.Ser903Ala, XP_011509008.1:p.Ser903Ala, XP_005246387.1:p.Ser903Ala, XP_011509012.1:p.Ser475Ala, XP_016858920.1:p.Ser430Ala, NP_001294905.1:p.Ser861Ala, XP_016858919.1:p.Ser903Ala, XP_047299445.1:p.Ser934Ala

              7.

              rs1477221082 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                2:210040480 (GRCh38)
                2:210905204 (GRCh37)
                Canonical SPDI:
                NC_000002.12:210040479:T:C
                Gene:
                KANSL1L (Varview), KANSL1L-AS1 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000002.12:g.210040480T>C, NC_000002.11:g.210905204T>C, XM_005246332.6:c.2068A>G, XM_005246332.5:c.2068A>G, XM_005246332.4:c.2068A>G, XM_005246332.3:c.2068A>G, XM_005246332.2:c.2068A>G, XM_005246332.1:c.2068A>G, XM_005246328.5:c.2068A>G, XM_005246328.4:c.2068A>G, XM_005246328.3:c.2068A>G, XM_005246328.2:c.2068A>G, XM_005246328.1:c.2068A>G, XM_005246329.5:c.1969A>G, XM_005246329.4:c.1969A>G, XM_005246329.3:c.1969A>G, XM_005246329.2:c.1969A>G, XM_005246329.1:c.1969A>G, NM_152519.4:c.1969A>G, NM_152519.3:c.1969A>G, NM_152519.2:c.1969A>G, XM_011510706.4:c.1969A>G, XM_011510706.3:c.1969A>G, XM_011510706.2:c.1969A>G, XM_011510706.1:c.1969A>G, XM_005246330.4:c.1969A>G, XM_005246330.3:c.1969A>G, XM_005246330.2:c.1969A>G, XM_005246330.1:c.1969A>G, XM_011510710.3:c.685A>G, XM_011510710.2:c.685A>G, XM_011510710.1:c.685A>G, XM_017003431.2:c.550A>G, XM_017003431.1:c.550A>G, NM_001307976.2:c.1969A>G, NM_001307976.1:c.1969A>G, XM_017003430.2:c.1969A>G, XM_017003430.1:c.1969A>G, XM_047443489.1:c.2062A>G, XP_005246389.1:p.Ile690Val, XP_005246385.1:p.Ile690Val, XP_005246386.1:p.Ile657Val, NP_689732.2:p.Ile657Val, XP_011509008.1:p.Ile657Val, XP_005246387.1:p.Ile657Val, XP_011509012.1:p.Ile229Val, XP_016858920.1:p.Ile184Val, NP_001294905.1:p.Ile657Val, XP_016858919.1:p.Ile657Val, XP_047299445.1:p.Ile688Val

                8.

                rs1476897797 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A,C [Show Flanks]
                  Chromosome:
                  2:210025108 (GRCh38)
                  2:210889832 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:210025107:T:A,NC_000002.12:210025107:T:C
                  Gene:
                  KANSL1L (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000002.12:g.210025108T>A, NC_000002.12:g.210025108T>C, NC_000002.11:g.210889832T>A, NC_000002.11:g.210889832T>C, XM_005246332.6:c.2533A>T, XM_005246332.6:c.2533A>G, XM_005246332.5:c.2533A>T, XM_005246332.5:c.2533A>G, XM_005246332.4:c.2533A>T, XM_005246332.4:c.2533A>G, XM_005246332.3:c.2533A>T, XM_005246332.3:c.2533A>G, XM_005246332.2:c.2533A>T, XM_005246332.2:c.2533A>G, XM_005246332.1:c.2533A>T, XM_005246332.1:c.2533A>G, XM_005246328.5:c.2659A>T, XM_005246328.5:c.2659A>G, XM_005246328.4:c.2659A>T, XM_005246328.4:c.2659A>G, XM_005246328.3:c.2659A>T, XM_005246328.3:c.2659A>G, XM_005246328.2:c.2659A>T, XM_005246328.2:c.2659A>G, XM_005246328.1:c.2659A>T, XM_005246328.1:c.2659A>G, XM_005246329.5:c.2560A>T, XM_005246329.5:c.2560A>G, XM_005246329.4:c.2560A>T, XM_005246329.4:c.2560A>G, XM_005246329.3:c.2560A>T, XM_005246329.3:c.2560A>G, XM_005246329.2:c.2560A>T, XM_005246329.2:c.2560A>G, XM_005246329.1:c.2560A>T, XM_005246329.1:c.2560A>G, NM_152519.4:c.2560A>T, NM_152519.4:c.2560A>G, NM_152519.3:c.2560A>T, NM_152519.3:c.2560A>G, NM_152519.2:c.2560A>T, NM_152519.2:c.2560A>G, XM_011510706.4:c.2560A>T, XM_011510706.4:c.2560A>G, XM_011510706.3:c.2560A>T, XM_011510706.3:c.2560A>G, XM_011510706.2:c.2560A>T, XM_011510706.2:c.2560A>G, XM_011510706.1:c.2560A>T, XM_011510706.1:c.2560A>G, XM_005246330.4:c.2560A>T, XM_005246330.4:c.2560A>G, XM_005246330.3:c.2560A>T, XM_005246330.3:c.2560A>G, XM_005246330.2:c.2560A>T, XM_005246330.2:c.2560A>G, XM_005246330.1:c.2560A>T, XM_005246330.1:c.2560A>G, XM_011510710.3:c.1276A>T, XM_011510710.3:c.1276A>G, XM_011510710.2:c.1276A>T, XM_011510710.2:c.1276A>G, XM_011510710.1:c.1276A>T, XM_011510710.1:c.1276A>G, XM_017003431.2:c.1141A>T, XM_017003431.2:c.1141A>G, XM_017003431.1:c.1141A>T, XM_017003431.1:c.1141A>G, NM_001307976.2:c.2434A>T, NM_001307976.2:c.2434A>G, NM_001307976.1:c.2434A>T, NM_001307976.1:c.2434A>G, XM_017003430.2:c.2560A>T, XM_017003430.2:c.2560A>G, XM_017003430.1:c.2560A>T, XM_017003430.1:c.2560A>G, XM_047443489.1:c.2653A>T, XM_047443489.1:c.2653A>G, XP_005246389.1:p.Ser845Cys, XP_005246389.1:p.Ser845Gly, XP_005246385.1:p.Ser887Cys, XP_005246385.1:p.Ser887Gly, XP_005246386.1:p.Ser854Cys, XP_005246386.1:p.Ser854Gly, NP_689732.2:p.Ser854Cys, NP_689732.2:p.Ser854Gly, XP_011509008.1:p.Ser854Cys, XP_011509008.1:p.Ser854Gly, XP_005246387.1:p.Ser854Cys, XP_005246387.1:p.Ser854Gly, XP_011509012.1:p.Ser426Cys, XP_011509012.1:p.Ser426Gly, XP_016858920.1:p.Ser381Cys, XP_016858920.1:p.Ser381Gly, NP_001294905.1:p.Ser812Cys, NP_001294905.1:p.Ser812Gly, XP_016858919.1:p.Ser854Cys, XP_016858919.1:p.Ser854Gly, XP_047299445.1:p.Ser885Cys, XP_047299445.1:p.Ser885Gly

                  9.

                  rs1476641981 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    2:210029877 (GRCh38)
                    2:210894601 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:210029876:C:G
                    Gene:
                    KANSL1L (Varview), KANSL1L-AS1 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    G=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    NC_000002.12:g.210029877C>G, NC_000002.11:g.210894601C>G, XM_005246332.6:c.2170G>C, XM_005246332.5:c.2170G>C, XM_005246332.4:c.2170G>C, XM_005246332.3:c.2170G>C, XM_005246332.2:c.2170G>C, XM_005246332.1:c.2170G>C, XM_005246328.5:c.2296G>C, XM_005246328.4:c.2296G>C, XM_005246328.3:c.2296G>C, XM_005246328.2:c.2296G>C, XM_005246328.1:c.2296G>C, XM_005246329.5:c.2197G>C, XM_005246329.4:c.2197G>C, XM_005246329.3:c.2197G>C, XM_005246329.2:c.2197G>C, XM_005246329.1:c.2197G>C, NM_152519.4:c.2197G>C, NM_152519.3:c.2197G>C, NM_152519.2:c.2197G>C, XM_011510706.4:c.2197G>C, XM_011510706.3:c.2197G>C, XM_011510706.2:c.2197G>C, XM_011510706.1:c.2197G>C, XM_005246330.4:c.2197G>C, XM_005246330.3:c.2197G>C, XM_005246330.2:c.2197G>C, XM_005246330.1:c.2197G>C, XM_011510710.3:c.913G>C, XM_011510710.2:c.913G>C, XM_011510710.1:c.913G>C, XM_017003431.2:c.778G>C, XM_017003431.1:c.778G>C, NM_001307976.2:c.2071G>C, NM_001307976.1:c.2071G>C, XM_017003430.2:c.2197G>C, XM_017003430.1:c.2197G>C, XM_047443489.1:c.2290G>C, XP_005246389.1:p.Glu724Gln, XP_005246385.1:p.Glu766Gln, XP_005246386.1:p.Glu733Gln, NP_689732.2:p.Glu733Gln, XP_011509008.1:p.Glu733Gln, XP_005246387.1:p.Glu733Gln, XP_011509012.1:p.Glu305Gln, XP_016858920.1:p.Glu260Gln, NP_001294905.1:p.Glu691Gln, XP_016858919.1:p.Glu733Gln, XP_047299445.1:p.Glu764Gln

                    10.

                    rs1476632755 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      2:210024178 (GRCh38)
                      2:210888902 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:210024177:C:A
                      Gene:
                      KANSL1L (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000002.12:g.210024178C>A, NC_000002.11:g.210888902C>A, XM_005246332.6:c.2561G>T, XM_005246332.5:c.2561G>T, XM_005246332.4:c.2561G>T, XM_005246332.3:c.2561G>T, XM_005246332.2:c.2561G>T, XM_005246332.1:c.2561G>T, XM_005246328.5:c.2687G>T, XM_005246328.4:c.2687G>T, XM_005246328.3:c.2687G>T, XM_005246328.2:c.2687G>T, XM_005246328.1:c.2687G>T, XM_005246329.5:c.2588G>T, XM_005246329.4:c.2588G>T, XM_005246329.3:c.2588G>T, XM_005246329.2:c.2588G>T, XM_005246329.1:c.2588G>T, NM_152519.4:c.2588G>T, NM_152519.3:c.2588G>T, NM_152519.2:c.2588G>T, XM_011510706.4:c.2588G>T, XM_011510706.3:c.2588G>T, XM_011510706.2:c.2588G>T, XM_011510706.1:c.2588G>T, XM_005246330.4:c.2588G>T, XM_005246330.3:c.2588G>T, XM_005246330.2:c.2588G>T, XM_005246330.1:c.2588G>T, XM_011510710.3:c.1304G>T, XM_011510710.2:c.1304G>T, XM_011510710.1:c.1304G>T, XM_017003431.2:c.1169G>T, XM_017003431.1:c.1169G>T, NM_001307976.2:c.2462G>T, NM_001307976.1:c.2462G>T, XM_017003430.2:c.2588G>T, XM_017003430.1:c.2588G>T, XM_047443489.1:c.2681G>T, XP_005246389.1:p.Gly854Val, XP_005246385.1:p.Gly896Val, XP_005246386.1:p.Gly863Val, NP_689732.2:p.Gly863Val, XP_011509008.1:p.Gly863Val, XP_005246387.1:p.Gly863Val, XP_011509012.1:p.Gly435Val, XP_016858920.1:p.Gly390Val, NP_001294905.1:p.Gly821Val, XP_016858919.1:p.Gly863Val, XP_047299445.1:p.Gly894Val

                      11.

                      rs1475599005 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        2:210023138 (GRCh38)
                        2:210887862 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:210023137:T:G
                        Gene:
                        KANSL1L (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        G=0.000008/2 (GnomAD_exomes)
                        G=0.000011/3 (TOPMED)
                        HGVS:
                        NC_000002.12:g.210023138T>G, NC_000002.11:g.210887862T>G, XM_005246332.6:c.2748A>C, XM_005246332.5:c.2748A>C, XM_005246332.4:c.2748A>C, XM_005246332.3:c.2748A>C, XM_005246332.2:c.2748A>C, XM_005246332.1:c.2748A>C, XM_005246328.5:c.2874A>C, XM_005246328.4:c.2874A>C, XM_005246328.3:c.2874A>C, XM_005246328.2:c.2874A>C, XM_005246328.1:c.2874A>C, XM_005246329.5:c.2775A>C, XM_005246329.4:c.2775A>C, XM_005246329.3:c.2775A>C, XM_005246329.2:c.2775A>C, XM_005246329.1:c.2775A>C, NM_152519.4:c.2775A>C, NM_152519.3:c.2775A>C, NM_152519.2:c.2775A>C, XM_011510706.4:c.2775A>C, XM_011510706.3:c.2775A>C, XM_011510706.2:c.2775A>C, XM_011510706.1:c.2775A>C, XM_005246330.4:c.2775A>C, XM_005246330.3:c.2775A>C, XM_005246330.2:c.2775A>C, XM_005246330.1:c.2775A>C, XM_011510710.3:c.1491A>C, XM_011510710.2:c.1491A>C, XM_011510710.1:c.1491A>C, XM_017003431.2:c.1356A>C, XM_017003431.1:c.1356A>C, NM_001307976.2:c.2649A>C, NM_001307976.1:c.2649A>C, XM_017003430.2:c.2775A>C, XM_017003430.1:c.2775A>C, XM_047443489.1:c.2868A>C, XP_005246389.1:p.Glu916Asp, XP_005246385.1:p.Glu958Asp, XP_005246386.1:p.Glu925Asp, NP_689732.2:p.Glu925Asp, XP_011509008.1:p.Glu925Asp, XP_005246387.1:p.Glu925Asp, XP_011509012.1:p.Glu497Asp, XP_016858920.1:p.Glu452Asp, NP_001294905.1:p.Glu883Asp, XP_016858919.1:p.Glu925Asp, XP_047299445.1:p.Glu956Asp

                        12.

                        rs1473072246 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          2:210104187 (GRCh38)
                          2:210968911 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:210104186:C:G
                          Gene:
                          KANSL1L (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000011/3 (TOPMED)
                          HGVS:
                          NC_000002.12:g.210104187C>G, NC_000002.11:g.210968911C>G, XM_005246332.6:c.1444G>C, XM_005246332.5:c.1444G>C, XM_005246332.4:c.1444G>C, XM_005246332.3:c.1444G>C, XM_005246332.2:c.1444G>C, XM_005246332.1:c.1444G>C, XM_005246334.6:c.1444G>C, XM_005246334.5:c.1444G>C, XM_005246334.4:c.1444G>C, XM_005246334.3:c.1444G>C, XM_005246334.2:c.1444G>C, XM_005246334.1:c.1444G>C, XM_005246328.5:c.1444G>C, XM_005246328.4:c.1444G>C, XM_005246328.3:c.1444G>C, XM_005246328.2:c.1444G>C, XM_005246328.1:c.1444G>C, XM_005246329.5:c.1345G>C, XM_005246329.4:c.1345G>C, XM_005246329.3:c.1345G>C, XM_005246329.2:c.1345G>C, XM_005246329.1:c.1345G>C, NM_152519.4:c.1345G>C, NM_152519.3:c.1345G>C, NM_152519.2:c.1345G>C, XM_011510706.4:c.1345G>C, XM_011510706.3:c.1345G>C, XM_011510706.2:c.1345G>C, XM_011510706.1:c.1345G>C, XM_005246330.4:c.1345G>C, XM_005246330.3:c.1345G>C, XM_005246330.2:c.1345G>C, XM_005246330.1:c.1345G>C, XM_006712320.4:c.1444G>C, XM_006712320.3:c.1444G>C, XM_006712320.2:c.1444G>C, XM_006712320.1:c.1444G>C, XM_011510710.3:c.61G>C, XM_011510710.2:c.61G>C, XM_011510710.1:c.61G>C, XM_011510709.3:c.1444G>C, XM_011510709.2:c.1444G>C, XM_011510709.1:c.1444G>C, NM_001307976.2:c.1345G>C, NM_001307976.1:c.1345G>C, XM_017003430.2:c.1345G>C, XM_017003430.1:c.1345G>C, XM_047443489.1:c.1438G>C, XM_047443492.1:c.1345G>C, XM_047443493.1:c.1345G>C, XM_047443490.1:c.1444G>C, XM_047443491.1:c.1444G>C, XM_047443494.1:c.1444G>C, XP_005246389.1:p.Glu482Gln, XP_005246391.1:p.Glu482Gln, XP_005246385.1:p.Glu482Gln, XP_005246386.1:p.Glu449Gln, NP_689732.2:p.Glu449Gln, XP_011509008.1:p.Glu449Gln, XP_005246387.1:p.Glu449Gln, XP_006712383.1:p.Glu482Gln, XP_011509012.1:p.Glu21Gln, XP_011509011.1:p.Glu482Gln, NP_001294905.1:p.Glu449Gln, XP_016858919.1:p.Glu449Gln, XP_047299445.1:p.Glu480Gln, XP_047299448.1:p.Glu449Gln, XP_047299449.1:p.Glu449Gln, XP_047299446.1:p.Glu482Gln, XP_047299447.1:p.Glu482Gln, XP_047299450.1:p.Glu482Gln

                          13.

                          rs1465557678 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            2:210025185 (GRCh38)
                            2:210889909 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:210025184:A:C
                            Gene:
                            KANSL1L (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.000071/1 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000002.12:g.210025185A>C, NC_000002.11:g.210889909A>C, XM_005246332.6:c.2456T>G, XM_005246332.5:c.2456T>G, XM_005246332.4:c.2456T>G, XM_005246332.3:c.2456T>G, XM_005246332.2:c.2456T>G, XM_005246332.1:c.2456T>G, XM_005246328.5:c.2582T>G, XM_005246328.4:c.2582T>G, XM_005246328.3:c.2582T>G, XM_005246328.2:c.2582T>G, XM_005246328.1:c.2582T>G, XM_005246329.5:c.2483T>G, XM_005246329.4:c.2483T>G, XM_005246329.3:c.2483T>G, XM_005246329.2:c.2483T>G, XM_005246329.1:c.2483T>G, NM_152519.4:c.2483T>G, NM_152519.3:c.2483T>G, NM_152519.2:c.2483T>G, XM_011510706.4:c.2483T>G, XM_011510706.3:c.2483T>G, XM_011510706.2:c.2483T>G, XM_011510706.1:c.2483T>G, XM_005246330.4:c.2483T>G, XM_005246330.3:c.2483T>G, XM_005246330.2:c.2483T>G, XM_005246330.1:c.2483T>G, XM_011510710.3:c.1199T>G, XM_011510710.2:c.1199T>G, XM_011510710.1:c.1199T>G, XM_017003431.2:c.1064T>G, XM_017003431.1:c.1064T>G, NM_001307976.2:c.2357T>G, NM_001307976.1:c.2357T>G, XM_017003430.2:c.2483T>G, XM_017003430.1:c.2483T>G, XM_047443489.1:c.2576T>G, XP_005246389.1:p.Leu819Arg, XP_005246385.1:p.Leu861Arg, XP_005246386.1:p.Leu828Arg, NP_689732.2:p.Leu828Arg, XP_011509008.1:p.Leu828Arg, XP_005246387.1:p.Leu828Arg, XP_011509012.1:p.Leu400Arg, XP_016858920.1:p.Leu355Arg, NP_001294905.1:p.Leu786Arg, XP_016858919.1:p.Leu828Arg, XP_047299445.1:p.Leu859Arg

                            14.

                            rs1464490910 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              2:210075732 (GRCh38)
                              2:210940456 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:210075731:C:T
                              Gene:
                              KANSL1L (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000002.12:g.210075732C>T, NC_000002.11:g.210940456C>T, XM_005246332.6:c.1674G>A, XM_005246332.5:c.1674G>A, XM_005246332.4:c.1674G>A, XM_005246332.3:c.1674G>A, XM_005246332.2:c.1674G>A, XM_005246332.1:c.1674G>A, XM_005246328.5:c.1674G>A, XM_005246328.4:c.1674G>A, XM_005246328.3:c.1674G>A, XM_005246328.2:c.1674G>A, XM_005246328.1:c.1674G>A, XM_005246329.5:c.1575G>A, XM_005246329.4:c.1575G>A, XM_005246329.3:c.1575G>A, XM_005246329.2:c.1575G>A, XM_005246329.1:c.1575G>A, NM_152519.4:c.1575G>A, NM_152519.3:c.1575G>A, NM_152519.2:c.1575G>A, XM_011510706.4:c.1575G>A, XM_011510706.3:c.1575G>A, XM_011510706.2:c.1575G>A, XM_011510706.1:c.1575G>A, XM_005246330.4:c.1575G>A, XM_005246330.3:c.1575G>A, XM_005246330.2:c.1575G>A, XM_005246330.1:c.1575G>A, XM_011510710.3:c.291G>A, XM_011510710.2:c.291G>A, XM_011510710.1:c.291G>A, XM_017003431.2:c.156G>A, XM_017003431.1:c.156G>A, NM_001307976.2:c.1575G>A, NM_001307976.1:c.1575G>A, XM_017003430.2:c.1575G>A, XM_017003430.1:c.1575G>A, XM_047443489.1:c.1668G>A, XM_047443490.1:c.1674G>A, XM_047443494.1:c.*4G>A

                              15.

                              rs1463607395 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                2:210023132 (GRCh38)
                                2:210887856 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:210023131:C:T
                                Gene:
                                KANSL1L (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000002.12:g.210023132C>T, NC_000002.11:g.210887856C>T, XM_005246332.6:c.2754G>A, XM_005246332.5:c.2754G>A, XM_005246332.4:c.2754G>A, XM_005246332.3:c.2754G>A, XM_005246332.2:c.2754G>A, XM_005246332.1:c.2754G>A, XM_005246328.5:c.2880G>A, XM_005246328.4:c.2880G>A, XM_005246328.3:c.2880G>A, XM_005246328.2:c.2880G>A, XM_005246328.1:c.2880G>A, XM_005246329.5:c.2781G>A, XM_005246329.4:c.2781G>A, XM_005246329.3:c.2781G>A, XM_005246329.2:c.2781G>A, XM_005246329.1:c.2781G>A, NM_152519.4:c.2781G>A, NM_152519.3:c.2781G>A, NM_152519.2:c.2781G>A, XM_011510706.4:c.2781G>A, XM_011510706.3:c.2781G>A, XM_011510706.2:c.2781G>A, XM_011510706.1:c.2781G>A, XM_005246330.4:c.2781G>A, XM_005246330.3:c.2781G>A, XM_005246330.2:c.2781G>A, XM_005246330.1:c.2781G>A, XM_011510710.3:c.1497G>A, XM_011510710.2:c.1497G>A, XM_011510710.1:c.1497G>A, XM_017003431.2:c.1362G>A, XM_017003431.1:c.1362G>A, NM_001307976.2:c.2655G>A, NM_001307976.1:c.2655G>A, XM_017003430.2:c.2781G>A, XM_017003430.1:c.2781G>A, XM_047443489.1:c.2874G>A, XP_005246389.1:p.Met918Ile, XP_005246385.1:p.Met960Ile, XP_005246386.1:p.Met927Ile, NP_689732.2:p.Met927Ile, XP_011509008.1:p.Met927Ile, XP_005246387.1:p.Met927Ile, XP_011509012.1:p.Met499Ile, XP_016858920.1:p.Met454Ile, NP_001294905.1:p.Met885Ile, XP_016858919.1:p.Met927Ile, XP_047299445.1:p.Met958Ile

                                16.

                                rs1462451007 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  2:210027345 (GRCh38)
                                  2:210892069 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:210027344:C:T
                                  Gene:
                                  KANSL1L (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  T=0.000012/3 (GnomAD_exomes)
                                  HGVS:
                                  NC_000002.12:g.210027345C>T, NC_000002.11:g.210892069C>T, XM_005246332.6:c.2375G>A, XM_005246332.5:c.2375G>A, XM_005246332.4:c.2375G>A, XM_005246332.3:c.2375G>A, XM_005246332.2:c.2375G>A, XM_005246332.1:c.2375G>A, XM_005246328.5:c.2501G>A, XM_005246328.4:c.2501G>A, XM_005246328.3:c.2501G>A, XM_005246328.2:c.2501G>A, XM_005246328.1:c.2501G>A, XM_005246329.5:c.2402G>A, XM_005246329.4:c.2402G>A, XM_005246329.3:c.2402G>A, XM_005246329.2:c.2402G>A, XM_005246329.1:c.2402G>A, NM_152519.4:c.2402G>A, NM_152519.3:c.2402G>A, NM_152519.2:c.2402G>A, XM_011510706.4:c.2402G>A, XM_011510706.3:c.2402G>A, XM_011510706.2:c.2402G>A, XM_011510706.1:c.2402G>A, XM_005246330.4:c.2402G>A, XM_005246330.3:c.2402G>A, XM_005246330.2:c.2402G>A, XM_005246330.1:c.2402G>A, XM_011510710.3:c.1118G>A, XM_011510710.2:c.1118G>A, XM_011510710.1:c.1118G>A, XM_017003431.2:c.983G>A, XM_017003431.1:c.983G>A, NM_001307976.2:c.2276G>A, NM_001307976.1:c.2276G>A, XM_017003430.2:c.2402G>A, XM_017003430.1:c.2402G>A, XM_047443489.1:c.2495G>A, XP_005246389.1:p.Arg792Lys, XP_005246385.1:p.Arg834Lys, XP_005246386.1:p.Arg801Lys, NP_689732.2:p.Arg801Lys, XP_011509008.1:p.Arg801Lys, XP_005246387.1:p.Arg801Lys, XP_011509012.1:p.Arg373Lys, XP_016858920.1:p.Arg328Lys, NP_001294905.1:p.Arg759Lys, XP_016858919.1:p.Arg801Lys, XP_047299445.1:p.Arg832Lys

                                  17.

                                  rs1460845128 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    2:210028906 (GRCh38)
                                    2:210893630 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:210028905:T:C
                                    Gene:
                                    KANSL1L (Varview), KANSL1L-AS1 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000002.12:g.210028906T>C, NC_000002.11:g.210893630T>C, XM_005246332.6:c.2308A>G, XM_005246332.5:c.2308A>G, XM_005246332.4:c.2308A>G, XM_005246332.3:c.2308A>G, XM_005246332.2:c.2308A>G, XM_005246332.1:c.2308A>G, XM_005246328.5:c.2434A>G, XM_005246328.4:c.2434A>G, XM_005246328.3:c.2434A>G, XM_005246328.2:c.2434A>G, XM_005246328.1:c.2434A>G, XM_005246329.5:c.2335A>G, XM_005246329.4:c.2335A>G, XM_005246329.3:c.2335A>G, XM_005246329.2:c.2335A>G, XM_005246329.1:c.2335A>G, NM_152519.4:c.2335A>G, NM_152519.3:c.2335A>G, NM_152519.2:c.2335A>G, XM_011510706.4:c.2335A>G, XM_011510706.3:c.2335A>G, XM_011510706.2:c.2335A>G, XM_011510706.1:c.2335A>G, XM_005246330.4:c.2335A>G, XM_005246330.3:c.2335A>G, XM_005246330.2:c.2335A>G, XM_005246330.1:c.2335A>G, XM_011510710.3:c.1051A>G, XM_011510710.2:c.1051A>G, XM_011510710.1:c.1051A>G, XM_017003431.2:c.916A>G, XM_017003431.1:c.916A>G, NM_001307976.2:c.2209A>G, NM_001307976.1:c.2209A>G, XM_017003430.2:c.2335A>G, XM_017003430.1:c.2335A>G, XM_047443489.1:c.2428A>G, XP_005246389.1:p.Met770Val, XP_005246385.1:p.Met812Val, XP_005246386.1:p.Met779Val, NP_689732.2:p.Met779Val, XP_011509008.1:p.Met779Val, XP_005246387.1:p.Met779Val, XP_011509012.1:p.Met351Val, XP_016858920.1:p.Met306Val, NP_001294905.1:p.Met737Val, XP_016858919.1:p.Met779Val, XP_047299445.1:p.Met810Val

                                    18.

                                    rs1458408361 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      2:210031484 (GRCh38)
                                      2:210896208 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:210031483:A:G
                                      Gene:
                                      KANSL1L (Varview), KANSL1L-AS1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000002.12:g.210031484A>G, NC_000002.11:g.210896208A>G, XM_005246328.5:c.2191T>C, XM_005246328.4:c.2191T>C, XM_005246328.3:c.2191T>C, XM_005246328.2:c.2191T>C, XM_005246328.1:c.2191T>C, XM_005246329.5:c.2092T>C, XM_005246329.4:c.2092T>C, XM_005246329.3:c.2092T>C, XM_005246329.2:c.2092T>C, XM_005246329.1:c.2092T>C, NM_152519.4:c.2092T>C, NM_152519.3:c.2092T>C, NM_152519.2:c.2092T>C, XM_011510706.4:c.2092T>C, XM_011510706.3:c.2092T>C, XM_011510706.2:c.2092T>C, XM_011510706.1:c.2092T>C, XM_005246330.4:c.2092T>C, XM_005246330.3:c.2092T>C, XM_005246330.2:c.2092T>C, XM_005246330.1:c.2092T>C, XM_011510710.3:c.808T>C, XM_011510710.2:c.808T>C, XM_011510710.1:c.808T>C, XM_017003431.2:c.673T>C, XM_017003431.1:c.673T>C, XM_017003430.2:c.2092T>C, XM_017003430.1:c.2092T>C, XM_047443489.1:c.2185T>C, NR_110291.1:n.95A>G, XP_005246385.1:p.Ser731Pro, XP_005246386.1:p.Ser698Pro, NP_689732.2:p.Ser698Pro, XP_011509008.1:p.Ser698Pro, XP_005246387.1:p.Ser698Pro, XP_011509012.1:p.Ser270Pro, XP_016858920.1:p.Ser225Pro, XP_016858919.1:p.Ser698Pro, XP_047299445.1:p.Ser729Pro

                                      19.

                                      rs1455695228 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        2:210027323 (GRCh38)
                                        2:210892047 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:210027322:C:G
                                        Gene:
                                        KANSL1L (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000002.12:g.210027323C>G, NC_000002.11:g.210892047C>G, XM_005246332.6:c.2397G>C, XM_005246332.5:c.2397G>C, XM_005246332.4:c.2397G>C, XM_005246332.3:c.2397G>C, XM_005246332.2:c.2397G>C, XM_005246332.1:c.2397G>C, XM_005246328.5:c.2523G>C, XM_005246328.4:c.2523G>C, XM_005246328.3:c.2523G>C, XM_005246328.2:c.2523G>C, XM_005246328.1:c.2523G>C, XM_005246329.5:c.2424G>C, XM_005246329.4:c.2424G>C, XM_005246329.3:c.2424G>C, XM_005246329.2:c.2424G>C, XM_005246329.1:c.2424G>C, NM_152519.4:c.2424G>C, NM_152519.3:c.2424G>C, NM_152519.2:c.2424G>C, XM_011510706.4:c.2424G>C, XM_011510706.3:c.2424G>C, XM_011510706.2:c.2424G>C, XM_011510706.1:c.2424G>C, XM_005246330.4:c.2424G>C, XM_005246330.3:c.2424G>C, XM_005246330.2:c.2424G>C, XM_005246330.1:c.2424G>C, XM_011510710.3:c.1140G>C, XM_011510710.2:c.1140G>C, XM_011510710.1:c.1140G>C, XM_017003431.2:c.1005G>C, XM_017003431.1:c.1005G>C, NM_001307976.2:c.2298G>C, NM_001307976.1:c.2298G>C, XM_017003430.2:c.2424G>C, XM_017003430.1:c.2424G>C, XM_047443489.1:c.2517G>C, XP_005246389.1:p.Leu799Phe, XP_005246385.1:p.Leu841Phe, XP_005246386.1:p.Leu808Phe, NP_689732.2:p.Leu808Phe, XP_011509008.1:p.Leu808Phe, XP_005246387.1:p.Leu808Phe, XP_011509012.1:p.Leu380Phe, XP_016858920.1:p.Leu335Phe, NP_001294905.1:p.Leu766Phe, XP_016858919.1:p.Leu808Phe, XP_047299445.1:p.Leu839Phe

                                        20.

                                        rs1455264805 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          2:210024115 (GRCh38)
                                          2:210888839 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:210024114:G:A
                                          Gene:
                                          KANSL1L (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000002.12:g.210024115G>A, NC_000002.11:g.210888839G>A, XM_005246332.6:c.2624C>T, XM_005246332.5:c.2624C>T, XM_005246332.4:c.2624C>T, XM_005246332.3:c.2624C>T, XM_005246332.2:c.2624C>T, XM_005246332.1:c.2624C>T, XM_005246328.5:c.2750C>T, XM_005246328.4:c.2750C>T, XM_005246328.3:c.2750C>T, XM_005246328.2:c.2750C>T, XM_005246328.1:c.2750C>T, XM_005246329.5:c.2651C>T, XM_005246329.4:c.2651C>T, XM_005246329.3:c.2651C>T, XM_005246329.2:c.2651C>T, XM_005246329.1:c.2651C>T, NM_152519.4:c.2651C>T, NM_152519.3:c.2651C>T, NM_152519.2:c.2651C>T, XM_011510706.4:c.2651C>T, XM_011510706.3:c.2651C>T, XM_011510706.2:c.2651C>T, XM_011510706.1:c.2651C>T, XM_005246330.4:c.2651C>T, XM_005246330.3:c.2651C>T, XM_005246330.2:c.2651C>T, XM_005246330.1:c.2651C>T, XM_011510710.3:c.1367C>T, XM_011510710.2:c.1367C>T, XM_011510710.1:c.1367C>T, XM_017003431.2:c.1232C>T, XM_017003431.1:c.1232C>T, NM_001307976.2:c.2525C>T, NM_001307976.1:c.2525C>T, XM_017003430.2:c.2651C>T, XM_017003430.1:c.2651C>T, XM_047443489.1:c.2744C>T, XP_005246389.1:p.Ala875Val, XP_005246385.1:p.Ala917Val, XP_005246386.1:p.Ala884Val, NP_689732.2:p.Ala884Val, XP_011509008.1:p.Ala884Val, XP_005246387.1:p.Ala884Val, XP_011509012.1:p.Ala456Val, XP_016858920.1:p.Ala411Val, NP_001294905.1:p.Ala842Val, XP_016858919.1:p.Ala884Val, XP_047299445.1:p.Ala915Val

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...