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Links from Protein

Items: 1 to 20 of 886

1.

rs1491003628 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    19:10687464 (GRCh38)
    19:10798140 (GRCh37)
    Canonical SPDI:
    NC_000019.10:10687463:G:A
    Gene:
    ILF3 (Varview)
    Functional Consequence:
    synonymous_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:

    2.

    rs1489673038 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      19:10689182 (GRCh38)
      19:10799858 (GRCh37)
      Canonical SPDI:
      NC_000019.10:10689181:G:A
      Gene:
      ILF3 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
      HGVS:
      NC_000019.10:g.10689182G>A, NC_000019.9:g.10799858G>A, NG_029220.1:g.39922G>A, NM_012218.4:c.2555G>A, NM_012218.3:c.2555G>A, NM_017620.3:c.2567G>A, NM_017620.2:c.2567G>A, NM_001394808.1:c.2567G>A, NM_001394811.1:c.2555G>A, NM_001394810.1:c.2567G>A, NM_001394809.1:c.2567G>A, NM_001394812.1:c.2555G>A, NM_001394813.1:c.2438G>A, NM_001394814.1:c.2426G>A, NM_001394815.1:c.2204G>A, NM_001394817.1:c.2192G>A, NM_001394816.1:c.2204G>A, XM_047438779.1:c.2567G>A, XM_047438778.1:c.2567G>A, NM_001394825.1:c.*507G>A, XM_047438780.1:c.1772G>A, XM_047438781.1:c.1562G>A, NP_036350.2:p.Gly852Asp, NP_060090.2:p.Gly856Asp, NP_001381737.1:p.Gly856Asp, NP_001381740.1:p.Gly852Asp, NP_001381739.1:p.Gly856Asp, NP_001381738.1:p.Gly856Asp, NP_001381741.1:p.Gly852Asp, NP_001381742.1:p.Gly813Asp, NP_001381743.1:p.Gly809Asp, NP_001381744.1:p.Gly735Asp, NP_001381746.1:p.Gly731Asp, NP_001381745.1:p.Gly735Asp, XP_047294735.1:p.Gly856Asp, XP_047294734.1:p.Gly856Asp, XP_047294736.1:p.Gly591Asp, XP_047294737.1:p.Gly521Asp

      3.

      rs1488351208 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        19:10680418 (GRCh38)
        19:10791094 (GRCh37)
        Canonical SPDI:
        NC_000019.10:10680417:G:A
        Gene:
        ILF3 (Varview)
        Functional Consequence:
        missense_variant,intron_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000015/4 (TOPMED)
        HGVS:
        NC_000019.10:g.10680418G>A, NC_000019.9:g.10791094G>A, NG_029220.1:g.31158G>A, NM_012218.4:c.932G>A, NM_012218.3:c.932G>A, NM_004516.4:c.932G>A, NM_004516.3:c.932G>A, NM_017620.3:c.932G>A, NM_017620.2:c.932G>A, NM_153464.3:c.932G>A, NM_153464.2:c.932G>A, NM_001137673.2:c.932G>A, NM_001137673.1:c.932G>A, NM_001394808.1:c.932G>A, NM_001394811.1:c.932G>A, NM_001394810.1:c.932G>A, NM_001394809.1:c.932G>A, NM_001394812.1:c.932G>A, NM_001394813.1:c.932G>A, NM_001394814.1:c.932G>A, NM_001394815.1:c.932G>A, NM_001394817.1:c.932G>A, NM_001394816.1:c.932G>A, NM_001394821.1:c.932G>A, NM_001394824.1:c.932G>A, NM_001394822.1:c.932G>A, NM_001394823.1:c.932G>A, NM_001394826.1:c.932G>A, NM_001394827.1:c.932G>A, NM_001394818.1:c.932G>A, NM_001394819.1:c.932G>A, NM_001394820.1:c.932G>A, XM_047438779.1:c.932G>A, XM_047438778.1:c.932G>A, NM_001394825.1:c.932G>A, XM_047438780.1:c.137G>A, NP_036350.2:p.Arg311Gln, NP_004507.2:p.Arg311Gln, NP_060090.2:p.Arg311Gln, NP_703194.1:p.Arg311Gln, NP_001131145.1:p.Arg311Gln, NP_001381737.1:p.Arg311Gln, NP_001381740.1:p.Arg311Gln, NP_001381739.1:p.Arg311Gln, NP_001381738.1:p.Arg311Gln, NP_001381741.1:p.Arg311Gln, NP_001381742.1:p.Arg311Gln, NP_001381743.1:p.Arg311Gln, NP_001381744.1:p.Arg311Gln, NP_001381746.1:p.Arg311Gln, NP_001381745.1:p.Arg311Gln, NP_001381750.1:p.Arg311Gln, NP_001381753.1:p.Arg311Gln, NP_001381751.1:p.Arg311Gln, NP_001381752.1:p.Arg311Gln, NP_001381755.1:p.Arg311Gln, NP_001381756.1:p.Arg311Gln, NP_001381747.1:p.Arg311Gln, NP_001381748.1:p.Arg311Gln, NP_001381749.1:p.Arg311Gln, XP_047294735.1:p.Arg311Gln, XP_047294734.1:p.Arg311Gln, XP_047294736.1:p.Arg46Gln

        4.

        rs1488276998 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,G [Show Flanks]
          Chromosome:
          19:10682012 (GRCh38)
          19:10792688 (GRCh37)
          Canonical SPDI:
          NC_000019.10:10682011:C:A,NC_000019.10:10682011:C:G
          Gene:
          ILF3 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          G=0.000004/1 (TOPMED)
          G=0.000014/2 (GnomAD)
          HGVS:
          NC_000019.10:g.10682012C>A, NC_000019.10:g.10682012C>G, NC_000019.9:g.10792688C>A, NC_000019.9:g.10792688C>G, NG_029220.1:g.32752C>A, NG_029220.1:g.32752C>G, NM_012218.4:c.1200C>A, NM_012218.4:c.1200C>G, NM_012218.3:c.1200C>A, NM_012218.3:c.1200C>G, NM_004516.4:c.1200C>A, NM_004516.4:c.1200C>G, NM_004516.3:c.1200C>A, NM_004516.3:c.1200C>G, NM_017620.3:c.1200C>A, NM_017620.3:c.1200C>G, NM_017620.2:c.1200C>A, NM_017620.2:c.1200C>G, NM_153464.3:c.1200C>A, NM_153464.3:c.1200C>G, NM_153464.2:c.1200C>A, NM_153464.2:c.1200C>G, NM_001137673.2:c.1200C>A, NM_001137673.2:c.1200C>G, NM_001137673.1:c.1200C>A, NM_001137673.1:c.1200C>G, NM_001394808.1:c.1200C>A, NM_001394808.1:c.1200C>G, NM_001394811.1:c.1200C>A, NM_001394811.1:c.1200C>G, NM_001394810.1:c.1200C>A, NM_001394810.1:c.1200C>G, NM_001394809.1:c.1200C>A, NM_001394809.1:c.1200C>G, NM_001394812.1:c.1200C>A, NM_001394812.1:c.1200C>G, NM_001394813.1:c.1200C>A, NM_001394813.1:c.1200C>G, NM_001394814.1:c.1200C>A, NM_001394814.1:c.1200C>G, NM_001394815.1:c.1200C>A, NM_001394815.1:c.1200C>G, NM_001394817.1:c.1200C>A, NM_001394817.1:c.1200C>G, NM_001394816.1:c.1200C>A, NM_001394816.1:c.1200C>G, NM_001394821.1:c.1200C>A, NM_001394821.1:c.1200C>G, NM_001394824.1:c.1200C>A, NM_001394824.1:c.1200C>G, NM_001394822.1:c.1200C>A, NM_001394822.1:c.1200C>G, NM_001394823.1:c.1200C>A, NM_001394823.1:c.1200C>G, NM_001394826.1:c.1200C>A, NM_001394826.1:c.1200C>G, NM_001394827.1:c.1200C>A, NM_001394827.1:c.1200C>G, NM_001394818.1:c.1200C>A, NM_001394818.1:c.1200C>G, NM_001394819.1:c.1200C>A, NM_001394819.1:c.1200C>G, NM_001394820.1:c.1200C>A, NM_001394820.1:c.1200C>G, XM_047438779.1:c.1200C>A, XM_047438779.1:c.1200C>G, XM_047438778.1:c.1200C>A, XM_047438778.1:c.1200C>G, NM_001394825.1:c.1200C>A, NM_001394825.1:c.1200C>G, XM_047438780.1:c.405C>A, XM_047438780.1:c.405C>G, XM_047438781.1:c.195C>A, XM_047438781.1:c.195C>G

          5.

          rs1487437991 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            19:10682115 (GRCh38)
            19:10792791 (GRCh37)
            Canonical SPDI:
            NC_000019.10:10682114:T:A
            Gene:
            ILF3 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000019.10:g.10682115T>A, NC_000019.9:g.10792791T>A, NG_029220.1:g.32855T>A, NM_012218.4:c.1303T>A, NM_012218.3:c.1303T>A, NM_004516.4:c.1303T>A, NM_004516.3:c.1303T>A, NM_017620.3:c.1303T>A, NM_017620.2:c.1303T>A, NM_153464.3:c.1303T>A, NM_153464.2:c.1303T>A, NM_001137673.2:c.1303T>A, NM_001137673.1:c.1303T>A, NM_001394808.1:c.1303T>A, NM_001394811.1:c.1303T>A, NM_001394810.1:c.1303T>A, NM_001394809.1:c.1303T>A, NM_001394812.1:c.1303T>A, NM_001394813.1:c.1303T>A, NM_001394814.1:c.1303T>A, NM_001394815.1:c.1303T>A, NM_001394817.1:c.1303T>A, NM_001394816.1:c.1303T>A, NM_001394821.1:c.1303T>A, NM_001394824.1:c.1303T>A, NM_001394822.1:c.1303T>A, NM_001394823.1:c.1303T>A, NM_001394826.1:c.1303T>A, NM_001394827.1:c.1303T>A, NM_001394818.1:c.1303T>A, NM_001394819.1:c.1303T>A, NM_001394820.1:c.1303T>A, XM_047438779.1:c.1303T>A, XM_047438778.1:c.1303T>A, NM_001394825.1:c.1303T>A, XM_047438780.1:c.508T>A, XM_047438781.1:c.298T>A, NP_036350.2:p.Ser435Thr, NP_004507.2:p.Ser435Thr, NP_060090.2:p.Ser435Thr, NP_703194.1:p.Ser435Thr, NP_001131145.1:p.Ser435Thr, NP_001381737.1:p.Ser435Thr, NP_001381740.1:p.Ser435Thr, NP_001381739.1:p.Ser435Thr, NP_001381738.1:p.Ser435Thr, NP_001381741.1:p.Ser435Thr, NP_001381742.1:p.Ser435Thr, NP_001381743.1:p.Ser435Thr, NP_001381744.1:p.Ser435Thr, NP_001381746.1:p.Ser435Thr, NP_001381745.1:p.Ser435Thr, NP_001381750.1:p.Ser435Thr, NP_001381753.1:p.Ser435Thr, NP_001381751.1:p.Ser435Thr, NP_001381752.1:p.Ser435Thr, NP_001381755.1:p.Ser435Thr, NP_001381756.1:p.Ser435Thr, NP_001381747.1:p.Ser435Thr, NP_001381748.1:p.Ser435Thr, NP_001381749.1:p.Ser435Thr, XP_047294735.1:p.Ser435Thr, XP_047294734.1:p.Ser435Thr, XP_047294736.1:p.Ser170Thr, XP_047294737.1:p.Ser100Thr

            6.

            rs1485939977 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              19:10682129 (GRCh38)
              19:10792805 (GRCh37)
              Canonical SPDI:
              NC_000019.10:10682128:T:C
              Gene:
              ILF3 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000019.10:g.10682129T>C, NC_000019.9:g.10792805T>C, NG_029220.1:g.32869T>C, NM_012218.4:c.1317T>C, NM_012218.3:c.1317T>C, NM_004516.4:c.1317T>C, NM_004516.3:c.1317T>C, NM_017620.3:c.1317T>C, NM_017620.2:c.1317T>C, NM_153464.3:c.1317T>C, NM_153464.2:c.1317T>C, NM_001137673.2:c.1317T>C, NM_001137673.1:c.1317T>C, NM_001394808.1:c.1317T>C, NM_001394811.1:c.1317T>C, NM_001394810.1:c.1317T>C, NM_001394809.1:c.1317T>C, NM_001394812.1:c.1317T>C, NM_001394813.1:c.1317T>C, NM_001394814.1:c.1317T>C, NM_001394815.1:c.1317T>C, NM_001394817.1:c.1317T>C, NM_001394816.1:c.1317T>C, NM_001394821.1:c.1317T>C, NM_001394824.1:c.1317T>C, NM_001394822.1:c.1317T>C, NM_001394823.1:c.1317T>C, NM_001394826.1:c.1317T>C, NM_001394827.1:c.1317T>C, NM_001394818.1:c.1317T>C, NM_001394819.1:c.1317T>C, NM_001394820.1:c.1317T>C, XM_047438779.1:c.1317T>C, XM_047438778.1:c.1317T>C, NM_001394825.1:c.1317T>C, XM_047438780.1:c.522T>C, XM_047438781.1:c.312T>C

              7.

              rs1484349756 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                19:10677301 (GRCh38)
                19:10787977 (GRCh37)
                Canonical SPDI:
                NC_000019.10:10677300:T:C
                Gene:
                ILF3 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000019.10:g.10677301T>C, NC_000019.9:g.10787977T>C, NG_029220.1:g.28041T>C, NM_012218.4:c.550T>C, NM_012218.3:c.550T>C, NM_004516.4:c.550T>C, NM_004516.3:c.550T>C, NM_017620.3:c.550T>C, NM_017620.2:c.550T>C, NM_153464.3:c.550T>C, NM_153464.2:c.550T>C, NM_001137673.2:c.550T>C, NM_001137673.1:c.550T>C, NM_001394808.1:c.550T>C, NM_001394811.1:c.550T>C, NM_001394810.1:c.550T>C, NM_001394809.1:c.550T>C, NM_001394812.1:c.550T>C, NM_001394813.1:c.550T>C, NM_001394814.1:c.550T>C, NM_001394815.1:c.550T>C, NM_001394817.1:c.550T>C, NM_001394816.1:c.550T>C, NM_001394821.1:c.550T>C, NM_001394824.1:c.550T>C, NM_001394822.1:c.550T>C, NM_001394823.1:c.550T>C, NM_001394826.1:c.550T>C, NM_001394827.1:c.550T>C, NM_001394818.1:c.550T>C, NM_001394819.1:c.550T>C, NM_001394820.1:c.550T>C, XM_047438779.1:c.550T>C, XM_047438778.1:c.550T>C, NM_001394825.1:c.550T>C, XM_047438780.1:c.-154T>C

                8.

                rs1483524324 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  19:10678617 (GRCh38)
                  19:10789293 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:10678616:G:A
                  Gene:
                  ILF3 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  NC_000019.10:g.10678617G>A, NC_000019.9:g.10789293G>A, NG_029220.1:g.29357G>A, NM_012218.4:c.564G>A, NM_012218.3:c.564G>A, NM_004516.4:c.564G>A, NM_004516.3:c.564G>A, NM_017620.3:c.564G>A, NM_017620.2:c.564G>A, NM_153464.3:c.564G>A, NM_153464.2:c.564G>A, NM_001137673.2:c.564G>A, NM_001137673.1:c.564G>A, NM_001394808.1:c.564G>A, NM_001394811.1:c.564G>A, NM_001394810.1:c.564G>A, NM_001394809.1:c.564G>A, NM_001394812.1:c.564G>A, NM_001394813.1:c.564G>A, NM_001394814.1:c.564G>A, NM_001394815.1:c.564G>A, NM_001394817.1:c.564G>A, NM_001394816.1:c.564G>A, NM_001394821.1:c.564G>A, NM_001394824.1:c.564G>A, NM_001394822.1:c.564G>A, NM_001394823.1:c.564G>A, NM_001394826.1:c.564G>A, NM_001394827.1:c.564G>A, NM_001394818.1:c.564G>A, NM_001394819.1:c.564G>A, NM_001394820.1:c.564G>A, XM_047438779.1:c.564G>A, XM_047438778.1:c.564G>A, NM_001394825.1:c.564G>A

                  9.

                  rs1482617308 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    19:10687353 (GRCh38)
                    19:10798029 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:10687352:C:G,NC_000019.10:10687352:C:T
                    Gene:
                    ILF3 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant,intron_variant
                    HGVS:
                    NC_000019.10:g.10687353C>G, NC_000019.10:g.10687353C>T, NC_000019.9:g.10798029C>G, NC_000019.9:g.10798029C>T, NG_029220.1:g.38093C>G, NG_029220.1:g.38093C>T, NM_012218.4:c.2067C>G, NM_012218.4:c.2067C>T, NM_012218.3:c.2067C>G, NM_012218.3:c.2067C>T, NM_017620.3:c.2079C>G, NM_017620.3:c.2079C>T, NM_017620.2:c.2079C>G, NM_017620.2:c.2079C>T, NM_001394808.1:c.2079C>G, NM_001394808.1:c.2079C>T, NM_001394811.1:c.2067C>G, NM_001394811.1:c.2067C>T, NM_001394810.1:c.2079C>G, NM_001394810.1:c.2079C>T, NM_001394809.1:c.2079C>G, NM_001394809.1:c.2079C>T, NM_001394812.1:c.2067C>G, NM_001394812.1:c.2067C>T, NM_001394813.1:c.2079C>G, NM_001394813.1:c.2079C>T, NM_001394814.1:c.2067C>G, NM_001394814.1:c.2067C>T, XM_047438779.1:c.2079C>G, XM_047438779.1:c.2079C>T, XM_047438778.1:c.2079C>G, XM_047438778.1:c.2079C>T, NM_001394825.1:c.*19C>G, NM_001394825.1:c.*19C>T, XM_047438780.1:c.1284C>G, XM_047438780.1:c.1284C>T, XM_047438781.1:c.1074C>G, XM_047438781.1:c.1074C>T, NP_036350.2:p.Phe689Leu, NP_060090.2:p.Phe693Leu, NP_001381737.1:p.Phe693Leu, NP_001381740.1:p.Phe689Leu, NP_001381739.1:p.Phe693Leu, NP_001381738.1:p.Phe693Leu, NP_001381741.1:p.Phe689Leu, NP_001381742.1:p.Phe693Leu, NP_001381743.1:p.Phe689Leu, XP_047294735.1:p.Phe693Leu, XP_047294734.1:p.Phe693Leu, XP_047294736.1:p.Phe428Leu, XP_047294737.1:p.Phe358Leu

                    10.

                    rs1481593726 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      19:10687411 (GRCh38)
                      19:10798087 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:10687410:G:A
                      Gene:
                      ILF3 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000019.10:g.10687411G>A, NC_000019.9:g.10798087G>A, NG_029220.1:g.38151G>A, NM_012218.4:c.2125G>A, NM_012218.3:c.2125G>A, NM_017620.3:c.2137G>A, NM_017620.2:c.2137G>A, NM_001394808.1:c.2137G>A, NM_001394811.1:c.2125G>A, NM_001394810.1:c.2137G>A, NM_001394809.1:c.2137G>A, NM_001394812.1:c.2125G>A, NM_001394813.1:c.2137G>A, NM_001394814.1:c.2125G>A, XM_047438779.1:c.2137G>A, XM_047438778.1:c.2137G>A, NM_001394825.1:c.*77G>A, XM_047438780.1:c.1342G>A, XM_047438781.1:c.1132G>A, NP_036350.2:p.Gly709Ser, NP_060090.2:p.Gly713Ser, NP_001381737.1:p.Gly713Ser, NP_001381740.1:p.Gly709Ser, NP_001381739.1:p.Gly713Ser, NP_001381738.1:p.Gly713Ser, NP_001381741.1:p.Gly709Ser, NP_001381742.1:p.Gly713Ser, NP_001381743.1:p.Gly709Ser, XP_047294735.1:p.Gly713Ser, XP_047294734.1:p.Gly713Ser, XP_047294736.1:p.Gly448Ser, XP_047294737.1:p.Gly378Ser

                      11.

                      rs1481005744 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        19:10689226 (GRCh38)
                        19:10799902 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:10689225:T:C
                        Gene:
                        ILF3 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000019.10:g.10689226T>C, NC_000019.9:g.10799902T>C, NG_029220.1:g.39966T>C, NM_012218.4:c.2599T>C, NM_012218.3:c.2599T>C, NM_017620.3:c.2611T>C, NM_017620.2:c.2611T>C, NM_001394808.1:c.2611T>C, NM_001394811.1:c.2599T>C, NM_001394810.1:c.2611T>C, NM_001394809.1:c.2611T>C, NM_001394812.1:c.2599T>C, NM_001394813.1:c.2482T>C, NM_001394814.1:c.2470T>C, NM_001394815.1:c.2248T>C, NM_001394817.1:c.2236T>C, NM_001394816.1:c.2248T>C, XM_047438779.1:c.2611T>C, XM_047438778.1:c.2611T>C, NM_001394825.1:c.*551T>C, XM_047438780.1:c.1816T>C, XM_047438781.1:c.1606T>C, NP_036350.2:p.Tyr867His, NP_060090.2:p.Tyr871His, NP_001381737.1:p.Tyr871His, NP_001381740.1:p.Tyr867His, NP_001381739.1:p.Tyr871His, NP_001381738.1:p.Tyr871His, NP_001381741.1:p.Tyr867His, NP_001381742.1:p.Tyr828His, NP_001381743.1:p.Tyr824His, NP_001381744.1:p.Tyr750His, NP_001381746.1:p.Tyr746His, NP_001381745.1:p.Tyr750His, XP_047294735.1:p.Tyr871His, XP_047294734.1:p.Tyr871His, XP_047294736.1:p.Tyr606His, XP_047294737.1:p.Tyr536His

                        12.

                        rs1478961685 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          19:10671136 (GRCh38)
                          19:10781812 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:10671135:A:G
                          Gene:
                          ILF3 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,missense_variant,coding_sequence_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_000019.10:g.10671136A>G, NC_000019.9:g.10781812A>G, NG_029220.1:g.21876A>G, NM_012218.4:c.166A>G, NM_012218.3:c.166A>G, NM_004516.4:c.166A>G, NM_004516.3:c.166A>G, NM_017620.3:c.166A>G, NM_017620.2:c.166A>G, NM_153464.3:c.166A>G, NM_153464.2:c.166A>G, NM_001137673.2:c.166A>G, NM_001137673.1:c.166A>G, NM_001394808.1:c.166A>G, NM_001394811.1:c.166A>G, NM_001394810.1:c.166A>G, NM_001394809.1:c.166A>G, NM_001394812.1:c.166A>G, NM_001394813.1:c.166A>G, NM_001394814.1:c.166A>G, NM_001394815.1:c.166A>G, NM_001394817.1:c.166A>G, NM_001394816.1:c.166A>G, NM_001394821.1:c.166A>G, NM_001394824.1:c.166A>G, NM_001394822.1:c.166A>G, NM_001394823.1:c.166A>G, NM_001394826.1:c.166A>G, NM_001394827.1:c.166A>G, NM_001394818.1:c.166A>G, NM_001394819.1:c.166A>G, NM_001394820.1:c.166A>G, XM_047438779.1:c.166A>G, XM_047438778.1:c.166A>G, NM_001394825.1:c.166A>G, NP_036350.2:p.Ser56Gly, NP_004507.2:p.Ser56Gly, NP_060090.2:p.Ser56Gly, NP_703194.1:p.Ser56Gly, NP_001131145.1:p.Ser56Gly, NP_001381737.1:p.Ser56Gly, NP_001381740.1:p.Ser56Gly, NP_001381739.1:p.Ser56Gly, NP_001381738.1:p.Ser56Gly, NP_001381741.1:p.Ser56Gly, NP_001381742.1:p.Ser56Gly, NP_001381743.1:p.Ser56Gly, NP_001381744.1:p.Ser56Gly, NP_001381746.1:p.Ser56Gly, NP_001381745.1:p.Ser56Gly, NP_001381750.1:p.Ser56Gly, NP_001381753.1:p.Ser56Gly, NP_001381751.1:p.Ser56Gly, NP_001381752.1:p.Ser56Gly, NP_001381755.1:p.Ser56Gly, NP_001381756.1:p.Ser56Gly, NP_001381747.1:p.Ser56Gly, NP_001381748.1:p.Ser56Gly, NP_001381749.1:p.Ser56Gly, XP_047294735.1:p.Ser56Gly, XP_047294734.1:p.Ser56Gly

                          13.

                          rs1476869599 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            19:10687689 (GRCh38)
                            19:10798365 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:10687688:C:T
                            Gene:
                            ILF3 (Varview)
                            Functional Consequence:
                            synonymous_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1476198467 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              19:10680439 (GRCh38)
                              19:10791115 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:10680438:C:T
                              Gene:
                              ILF3 (Varview)
                              Functional Consequence:
                              missense_variant,intron_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000019.10:g.10680439C>T, NC_000019.9:g.10791115C>T, NG_029220.1:g.31179C>T, NM_012218.4:c.953C>T, NM_012218.3:c.953C>T, NM_004516.4:c.953C>T, NM_004516.3:c.953C>T, NM_017620.3:c.953C>T, NM_017620.2:c.953C>T, NM_153464.3:c.953C>T, NM_153464.2:c.953C>T, NM_001137673.2:c.953C>T, NM_001137673.1:c.953C>T, NM_001394808.1:c.953C>T, NM_001394811.1:c.953C>T, NM_001394810.1:c.953C>T, NM_001394809.1:c.953C>T, NM_001394812.1:c.953C>T, NM_001394813.1:c.953C>T, NM_001394814.1:c.953C>T, NM_001394815.1:c.953C>T, NM_001394817.1:c.953C>T, NM_001394816.1:c.953C>T, NM_001394821.1:c.953C>T, NM_001394824.1:c.953C>T, NM_001394822.1:c.953C>T, NM_001394823.1:c.953C>T, NM_001394826.1:c.953C>T, NM_001394827.1:c.953C>T, NM_001394818.1:c.953C>T, NM_001394819.1:c.953C>T, NM_001394820.1:c.953C>T, XM_047438779.1:c.953C>T, XM_047438778.1:c.953C>T, NM_001394825.1:c.953C>T, XM_047438780.1:c.158C>T, NP_036350.2:p.Ala318Val, NP_004507.2:p.Ala318Val, NP_060090.2:p.Ala318Val, NP_703194.1:p.Ala318Val, NP_001131145.1:p.Ala318Val, NP_001381737.1:p.Ala318Val, NP_001381740.1:p.Ala318Val, NP_001381739.1:p.Ala318Val, NP_001381738.1:p.Ala318Val, NP_001381741.1:p.Ala318Val, NP_001381742.1:p.Ala318Val, NP_001381743.1:p.Ala318Val, NP_001381744.1:p.Ala318Val, NP_001381746.1:p.Ala318Val, NP_001381745.1:p.Ala318Val, NP_001381750.1:p.Ala318Val, NP_001381753.1:p.Ala318Val, NP_001381751.1:p.Ala318Val, NP_001381752.1:p.Ala318Val, NP_001381755.1:p.Ala318Val, NP_001381756.1:p.Ala318Val, NP_001381747.1:p.Ala318Val, NP_001381748.1:p.Ala318Val, NP_001381749.1:p.Ala318Val, XP_047294735.1:p.Ala318Val, XP_047294734.1:p.Ala318Val, XP_047294736.1:p.Ala53Val

                              15.

                              rs1475416769 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TCC>- [Show Flanks]
                                Chromosome:
                                19:10687593 (GRCh38)
                                19:10798269 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:10687590:CCTCC:CC
                                Gene:
                                ILF3 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,inframe_deletion,intron_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                CC=0./0 (ALFA)
                                -=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000019.10:g.10687593_10687595del, NC_000019.9:g.10798269_10798271del, NG_029220.1:g.38333_38335del, NM_012218.4:c.2307_2309del, NM_012218.3:c.2307_2309del, NM_017620.3:c.2319_2321del, NM_017620.2:c.2319_2321del, NM_001394808.1:c.2319_2321del, NM_001394811.1:c.2307_2309del, NM_001394810.1:c.2319_2321del, NM_001394809.1:c.2319_2321del, NM_001394812.1:c.2307_2309del, NM_001394813.1:c.2319_2321del, NM_001394814.1:c.2307_2309del, XM_047438779.1:c.2319_2321del, XM_047438778.1:c.2319_2321del, NM_001394825.1:c.*259_*261del, XM_047438780.1:c.1524_1526del, XM_047438781.1:c.1314_1316del, NP_036350.2:p.Pro770del, NP_060090.2:p.Pro774del, NP_001381737.1:p.Pro774del, NP_001381740.1:p.Pro770del, NP_001381739.1:p.Pro774del, NP_001381738.1:p.Pro774del, NP_001381741.1:p.Pro770del, NP_001381742.1:p.Pro774del, NP_001381743.1:p.Pro770del, XP_047294735.1:p.Pro774del, XP_047294734.1:p.Pro774del, XP_047294736.1:p.Pro509del, XP_047294737.1:p.Pro439del

                                16.

                                rs1475024017 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  19:10682091 (GRCh38)
                                  19:10792767 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:10682090:G:A
                                  Gene:
                                  ILF3 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  HGVS:
                                  NC_000019.10:g.10682091G>A, NC_000019.9:g.10792767G>A, NG_029220.1:g.32831G>A, NM_012218.4:c.1279G>A, NM_012218.3:c.1279G>A, NM_004516.4:c.1279G>A, NM_004516.3:c.1279G>A, NM_017620.3:c.1279G>A, NM_017620.2:c.1279G>A, NM_153464.3:c.1279G>A, NM_153464.2:c.1279G>A, NM_001137673.2:c.1279G>A, NM_001137673.1:c.1279G>A, NM_001394808.1:c.1279G>A, NM_001394811.1:c.1279G>A, NM_001394810.1:c.1279G>A, NM_001394809.1:c.1279G>A, NM_001394812.1:c.1279G>A, NM_001394813.1:c.1279G>A, NM_001394814.1:c.1279G>A, NM_001394815.1:c.1279G>A, NM_001394817.1:c.1279G>A, NM_001394816.1:c.1279G>A, NM_001394821.1:c.1279G>A, NM_001394824.1:c.1279G>A, NM_001394822.1:c.1279G>A, NM_001394823.1:c.1279G>A, NM_001394826.1:c.1279G>A, NM_001394827.1:c.1279G>A, NM_001394818.1:c.1279G>A, NM_001394819.1:c.1279G>A, NM_001394820.1:c.1279G>A, XM_047438779.1:c.1279G>A, XM_047438778.1:c.1279G>A, NM_001394825.1:c.1279G>A, XM_047438780.1:c.484G>A, XM_047438781.1:c.274G>A, NP_036350.2:p.Val427Ile, NP_004507.2:p.Val427Ile, NP_060090.2:p.Val427Ile, NP_703194.1:p.Val427Ile, NP_001131145.1:p.Val427Ile, NP_001381737.1:p.Val427Ile, NP_001381740.1:p.Val427Ile, NP_001381739.1:p.Val427Ile, NP_001381738.1:p.Val427Ile, NP_001381741.1:p.Val427Ile, NP_001381742.1:p.Val427Ile, NP_001381743.1:p.Val427Ile, NP_001381744.1:p.Val427Ile, NP_001381746.1:p.Val427Ile, NP_001381745.1:p.Val427Ile, NP_001381750.1:p.Val427Ile, NP_001381753.1:p.Val427Ile, NP_001381751.1:p.Val427Ile, NP_001381752.1:p.Val427Ile, NP_001381755.1:p.Val427Ile, NP_001381756.1:p.Val427Ile, NP_001381747.1:p.Val427Ile, NP_001381748.1:p.Val427Ile, NP_001381749.1:p.Val427Ile, XP_047294735.1:p.Val427Ile, XP_047294734.1:p.Val427Ile, XP_047294736.1:p.Val162Ile, XP_047294737.1:p.Val92Ile

                                  17.

                                  rs1474881535 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    19:10679125 (GRCh38)
                                    19:10789801 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:10679124:T:C
                                    Gene:
                                    ILF3 (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000019.10:g.10679125T>C, NC_000019.9:g.10789801T>C, NG_029220.1:g.29865T>C, NM_012218.4:c.680T>C, NM_012218.3:c.680T>C, NM_004516.4:c.680T>C, NM_004516.3:c.680T>C, NM_017620.3:c.680T>C, NM_017620.2:c.680T>C, NM_153464.3:c.680T>C, NM_153464.2:c.680T>C, NM_001137673.2:c.680T>C, NM_001137673.1:c.680T>C, NM_001394808.1:c.680T>C, NM_001394811.1:c.680T>C, NM_001394810.1:c.680T>C, NM_001394809.1:c.680T>C, NM_001394812.1:c.680T>C, NM_001394813.1:c.680T>C, NM_001394814.1:c.680T>C, NM_001394815.1:c.680T>C, NM_001394817.1:c.680T>C, NM_001394816.1:c.680T>C, NM_001394821.1:c.680T>C, NM_001394824.1:c.680T>C, NM_001394822.1:c.680T>C, NM_001394823.1:c.680T>C, NM_001394826.1:c.680T>C, NM_001394827.1:c.680T>C, NM_001394818.1:c.680T>C, NM_001394819.1:c.680T>C, NM_001394820.1:c.680T>C, XM_047438779.1:c.680T>C, XM_047438778.1:c.680T>C, NM_001394825.1:c.680T>C, XM_047438780.1:c.-116T>C, NP_036350.2:p.Val227Ala, NP_004507.2:p.Val227Ala, NP_060090.2:p.Val227Ala, NP_703194.1:p.Val227Ala, NP_001131145.1:p.Val227Ala, NP_001381737.1:p.Val227Ala, NP_001381740.1:p.Val227Ala, NP_001381739.1:p.Val227Ala, NP_001381738.1:p.Val227Ala, NP_001381741.1:p.Val227Ala, NP_001381742.1:p.Val227Ala, NP_001381743.1:p.Val227Ala, NP_001381744.1:p.Val227Ala, NP_001381746.1:p.Val227Ala, NP_001381745.1:p.Val227Ala, NP_001381750.1:p.Val227Ala, NP_001381753.1:p.Val227Ala, NP_001381751.1:p.Val227Ala, NP_001381752.1:p.Val227Ala, NP_001381755.1:p.Val227Ala, NP_001381756.1:p.Val227Ala, NP_001381747.1:p.Val227Ala, NP_001381748.1:p.Val227Ala, NP_001381749.1:p.Val227Ala, XP_047294735.1:p.Val227Ala, XP_047294734.1:p.Val227Ala

                                    18.

                                    rs1473503487 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      19:10683459 (GRCh38)
                                      19:10794135 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:10683458:C:T
                                      Gene:
                                      ILF3 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000019.10:g.10683459C>T, NC_000019.9:g.10794135C>T, NG_029220.1:g.34199C>T, NM_012218.4:c.1768C>T, NM_012218.3:c.1768C>T, NM_004516.4:c.1768C>T, NM_004516.3:c.1768C>T, NM_017620.3:c.1780C>T, NM_017620.2:c.1780C>T, NM_153464.3:c.1768C>T, NM_153464.2:c.1768C>T, NM_001137673.2:c.1780C>T, NM_001137673.1:c.1780C>T, NM_001394808.1:c.1780C>T, NM_001394811.1:c.1768C>T, NM_001394810.1:c.1780C>T, NM_001394809.1:c.1780C>T, NM_001394812.1:c.1768C>T, NM_001394813.1:c.1780C>T, NM_001394814.1:c.1768C>T, NM_001394815.1:c.1780C>T, NM_001394817.1:c.1768C>T, NM_001394816.1:c.1780C>T, NM_001394821.1:c.1780C>T, NM_001394824.1:c.1768C>T, NM_001394822.1:c.1780C>T, NM_001394823.1:c.1780C>T, NM_001394826.1:c.1768C>T, NM_001394827.1:c.1780C>T, NM_001394818.1:c.1780C>T, NM_001394819.1:c.1768C>T, NM_001394820.1:c.1768C>T, XM_047438779.1:c.1780C>T, XM_047438778.1:c.1780C>T, NM_001394825.1:c.1768C>T, XM_047438780.1:c.985C>T, XM_047438781.1:c.775C>T, NP_036350.2:p.Pro590Ser, NP_004507.2:p.Pro590Ser, NP_060090.2:p.Pro594Ser, NP_703194.1:p.Pro590Ser, NP_001131145.1:p.Pro594Ser, NP_001381737.1:p.Pro594Ser, NP_001381740.1:p.Pro590Ser, NP_001381739.1:p.Pro594Ser, NP_001381738.1:p.Pro594Ser, NP_001381741.1:p.Pro590Ser, NP_001381742.1:p.Pro594Ser, NP_001381743.1:p.Pro590Ser, NP_001381744.1:p.Pro594Ser, NP_001381746.1:p.Pro590Ser, NP_001381745.1:p.Pro594Ser, NP_001381750.1:p.Pro594Ser, NP_001381753.1:p.Pro590Ser, NP_001381751.1:p.Pro594Ser, NP_001381752.1:p.Pro594Ser, NP_001381755.1:p.Pro590Ser, NP_001381756.1:p.Pro594Ser, NP_001381747.1:p.Pro594Ser, NP_001381748.1:p.Pro590Ser, NP_001381749.1:p.Pro590Ser, XP_047294735.1:p.Pro594Ser, XP_047294734.1:p.Pro594Ser, XP_047294736.1:p.Pro329Ser, XP_047294737.1:p.Pro259Ser

                                      19.

                                      rs1473316500 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,G [Show Flanks]
                                        Chromosome:
                                        19:10671451 (GRCh38)
                                        19:10782127 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:10671450:T:A,NC_000019.10:10671450:T:G
                                        Gene:
                                        ILF3 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        A=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000019.10:g.10671451T>A, NC_000019.10:g.10671451T>G, NC_000019.9:g.10782127T>A, NC_000019.9:g.10782127T>G, NG_029220.1:g.22191T>A, NG_029220.1:g.22191T>G, NM_012218.4:c.327T>A, NM_012218.4:c.327T>G, NM_012218.3:c.327T>A, NM_012218.3:c.327T>G, NM_004516.4:c.327T>A, NM_004516.4:c.327T>G, NM_004516.3:c.327T>A, NM_004516.3:c.327T>G, NM_017620.3:c.327T>A, NM_017620.3:c.327T>G, NM_017620.2:c.327T>A, NM_017620.2:c.327T>G, NM_153464.3:c.327T>A, NM_153464.3:c.327T>G, NM_153464.2:c.327T>A, NM_153464.2:c.327T>G, NM_001137673.2:c.327T>A, NM_001137673.2:c.327T>G, NM_001137673.1:c.327T>A, NM_001137673.1:c.327T>G, NM_001394808.1:c.327T>A, NM_001394808.1:c.327T>G, NM_001394811.1:c.327T>A, NM_001394811.1:c.327T>G, NM_001394810.1:c.327T>A, NM_001394810.1:c.327T>G, NM_001394809.1:c.327T>A, NM_001394809.1:c.327T>G, NM_001394812.1:c.327T>A, NM_001394812.1:c.327T>G, NM_001394813.1:c.327T>A, NM_001394813.1:c.327T>G, NM_001394814.1:c.327T>A, NM_001394814.1:c.327T>G, NM_001394815.1:c.327T>A, NM_001394815.1:c.327T>G, NM_001394817.1:c.327T>A, NM_001394817.1:c.327T>G, NM_001394816.1:c.327T>A, NM_001394816.1:c.327T>G, NM_001394821.1:c.327T>A, NM_001394821.1:c.327T>G, NM_001394824.1:c.327T>A, NM_001394824.1:c.327T>G, NM_001394822.1:c.327T>A, NM_001394822.1:c.327T>G, NM_001394823.1:c.327T>A, NM_001394823.1:c.327T>G, NM_001394826.1:c.327T>A, NM_001394826.1:c.327T>G, NM_001394827.1:c.327T>A, NM_001394827.1:c.327T>G, NM_001394818.1:c.327T>A, NM_001394818.1:c.327T>G, NM_001394819.1:c.327T>A, NM_001394819.1:c.327T>G, NM_001394820.1:c.327T>A, NM_001394820.1:c.327T>G, XM_047438779.1:c.327T>A, XM_047438779.1:c.327T>G, XM_047438778.1:c.327T>A, XM_047438778.1:c.327T>G, NM_001394825.1:c.327T>A, NM_001394825.1:c.327T>G, NP_036350.2:p.Asp109Glu, NP_036350.2:p.Asp109Glu, NP_004507.2:p.Asp109Glu, NP_004507.2:p.Asp109Glu, NP_060090.2:p.Asp109Glu, NP_060090.2:p.Asp109Glu, NP_703194.1:p.Asp109Glu, NP_703194.1:p.Asp109Glu, NP_001131145.1:p.Asp109Glu, NP_001131145.1:p.Asp109Glu, NP_001381737.1:p.Asp109Glu, NP_001381737.1:p.Asp109Glu, NP_001381740.1:p.Asp109Glu, NP_001381740.1:p.Asp109Glu, NP_001381739.1:p.Asp109Glu, NP_001381739.1:p.Asp109Glu, NP_001381738.1:p.Asp109Glu, NP_001381738.1:p.Asp109Glu, NP_001381741.1:p.Asp109Glu, NP_001381741.1:p.Asp109Glu, NP_001381742.1:p.Asp109Glu, NP_001381742.1:p.Asp109Glu, NP_001381743.1:p.Asp109Glu, NP_001381743.1:p.Asp109Glu, NP_001381744.1:p.Asp109Glu, NP_001381744.1:p.Asp109Glu, NP_001381746.1:p.Asp109Glu, NP_001381746.1:p.Asp109Glu, NP_001381745.1:p.Asp109Glu, NP_001381745.1:p.Asp109Glu, NP_001381750.1:p.Asp109Glu, NP_001381750.1:p.Asp109Glu, NP_001381753.1:p.Asp109Glu, NP_001381753.1:p.Asp109Glu, NP_001381751.1:p.Asp109Glu, NP_001381751.1:p.Asp109Glu, NP_001381752.1:p.Asp109Glu, NP_001381752.1:p.Asp109Glu, NP_001381755.1:p.Asp109Glu, NP_001381755.1:p.Asp109Glu, NP_001381756.1:p.Asp109Glu, NP_001381756.1:p.Asp109Glu, NP_001381747.1:p.Asp109Glu, NP_001381747.1:p.Asp109Glu, NP_001381748.1:p.Asp109Glu, NP_001381748.1:p.Asp109Glu, NP_001381749.1:p.Asp109Glu, NP_001381749.1:p.Asp109Glu, XP_047294735.1:p.Asp109Glu, XP_047294735.1:p.Asp109Glu, XP_047294734.1:p.Asp109Glu, XP_047294734.1:p.Asp109Glu

                                        20.

                                        rs1471979823 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          GGG>- [Show Flanks]
                                          Chromosome:
                                          19:10688629 (GRCh38)
                                          19:10799305 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:10688626:GGGGG:GG
                                          Gene:
                                          ILF3 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,inframe_deletion,intron_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          GG=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          -=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000019.10:g.10688629_10688631del, NC_000019.9:g.10799305_10799307del, NG_029220.1:g.39369_39371del, NM_012218.4:c.2502_2504del, NM_012218.3:c.2502_2504del, NM_017620.3:c.2514_2516del, NM_017620.2:c.2514_2516del, NM_001394808.1:c.2514_2516del, NM_001394811.1:c.2502_2504del, NM_001394810.1:c.2514_2516del, NM_001394809.1:c.2514_2516del, NM_001394812.1:c.2502_2504del, NM_001394815.1:c.2151_2153del, NM_001394817.1:c.2139_2141del, NM_001394816.1:c.2151_2153del, XM_047438779.1:c.2514_2516del, XM_047438778.1:c.2514_2516del, NM_001394825.1:c.*454_*456del, XM_047438780.1:c.1719_1721del, XM_047438781.1:c.1509_1511del, NP_036350.2:p.Gly835del, NP_060090.2:p.Gly839del, NP_001381737.1:p.Gly839del, NP_001381740.1:p.Gly835del, NP_001381739.1:p.Gly839del, NP_001381738.1:p.Gly839del, NP_001381741.1:p.Gly835del, NP_001381744.1:p.Gly718del, NP_001381746.1:p.Gly714del, NP_001381745.1:p.Gly718del, XP_047294735.1:p.Gly839del, XP_047294734.1:p.Gly839del, XP_047294736.1:p.Gly574del, XP_047294737.1:p.Gly504del

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