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Items: 1 to 20 of 339

1.

rs1489943126 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    4:149686458 (GRCh38)
    4:150607610 (GRCh37)
    Canonical SPDI:
    NC_000004.12:149686457:T:C
    Gene:
    IQCM (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000008/2 (TOPMED)
    HGVS:

    2.

    rs1488767153 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      4:149433483 (GRCh38)
      4:150354635 (GRCh37)
      Canonical SPDI:
      NC_000004.12:149433482:C:T
      Gene:
      IQCM (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      NC_000004.12:g.149433483C>T, NC_000004.11:g.150354635C>T, XM_017008901.3:c.1342G>A, XM_017008901.2:c.1342G>A, XM_017008901.1:c.1342G>A, XM_017008900.3:c.1342G>A, XM_017008900.2:c.1342G>A, XM_017008900.1:c.1342G>A, XM_017008903.3:c.1303G>A, XM_017008903.2:c.1303G>A, XM_017008903.1:c.1303G>A, XM_017008902.3:c.1342G>A, XM_017008902.2:c.1342G>A, XM_017008902.1:c.1342G>A, XM_017008904.3:c.934G>A, XM_017008904.2:c.934G>A, XM_017008904.1:c.934G>A, NM_001363507.2:c.1303G>A, NM_001363507.1:c.1303G>A, NM_001363509.2:c.1303G>A, NM_001363509.1:c.1303G>A, NM_001378177.1:c.1342G>A, NM_001378180.1:c.856G>A, NM_001378179.1:c.1303G>A, NM_001378178.1:c.1342G>A, NM_001378182.1:c.895G>A, NM_001378181.1:c.895G>A, NM_001378184.1:c.856G>A, XM_047450076.1:c.895G>A, XP_016864390.1:p.Glu448Lys, XP_016864389.1:p.Glu448Lys, XP_016864392.1:p.Glu435Lys, XP_016864391.1:p.Glu448Lys, XP_016864393.1:p.Glu312Lys, NP_001350436.1:p.Glu435Lys, NP_001350438.1:p.Glu435Lys, NP_001365106.1:p.Glu448Lys, NP_001365109.1:p.Glu286Lys, NP_001365108.1:p.Glu435Lys, NP_001365107.1:p.Glu448Lys, NP_001365111.1:p.Glu299Lys, NP_001365110.1:p.Glu299Lys, NP_001365113.1:p.Glu286Lys, XP_047306032.1:p.Glu299Lys

      3.

      rs1488327125 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        4:149735456 (GRCh38)
        4:150656608 (GRCh37)
        Canonical SPDI:
        NC_000004.12:149735455:G:A
        Gene:
        IQCM (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_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_000004.12:g.149735456G>A, NC_000004.11:g.150656608G>A, XM_011532456.4:c.40C>T, XM_011532456.3:c.40C>T, XM_011532456.2:c.40C>T, XM_011532456.1:c.40C>T, XM_017008901.3:c.40C>T, XM_017008901.2:c.40C>T, XM_017008901.1:c.40C>T, XM_017008900.3:c.40C>T, XM_017008900.2:c.40C>T, XM_017008900.1:c.40C>T, XM_017008903.3:c.40C>T, XM_017008903.2:c.40C>T, XM_017008903.1:c.40C>T, XM_017008902.3:c.40C>T, XM_017008902.2:c.40C>T, XM_017008902.1:c.40C>T, XM_017008904.3:c.-369C>T, XM_017008904.2:c.-369C>T, XM_017008904.1:c.-369C>T, NM_001363507.2:c.40C>T, NM_001363507.1:c.40C>T, NM_001363509.2:c.40C>T, NM_001363509.1:c.40C>T, NM_001378177.1:c.40C>T, NM_001378180.1:c.-317C>T, NM_001378179.1:c.40C>T, NM_001378178.1:c.40C>T, NM_001378182.1:c.-317C>T, NM_001378181.1:c.-369C>T, NM_001378184.1:c.-317C>T, NM_001378187.1:c.40C>T, NM_001378185.1:c.40C>T, NM_001378186.1:c.40C>T, XP_011530758.1:p.Pro14Ser, XP_016864390.1:p.Pro14Ser, XP_016864389.1:p.Pro14Ser, XP_016864392.1:p.Pro14Ser, XP_016864391.1:p.Pro14Ser, NP_001350436.1:p.Pro14Ser, NP_001350438.1:p.Pro14Ser, NP_001365106.1:p.Pro14Ser, NP_001365108.1:p.Pro14Ser, NP_001365107.1:p.Pro14Ser, NP_001365116.1:p.Pro14Ser, NP_001365114.1:p.Pro14Ser, NP_001365115.1:p.Pro14Ser

        4.

        rs1487978600 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          4:149733387 (GRCh38)
          4:150654539 (GRCh37)
          Canonical SPDI:
          NC_000004.12:149733386:C:A,NC_000004.12:149733386:C:T
          Gene:
          IQCM (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.00022/4 (ALFA)
          T=0.00089/4 (Estonian)
          HGVS:
          NC_000004.12:g.149733387C>A, NC_000004.12:g.149733387C>T, NC_000004.11:g.150654539C>A, NC_000004.11:g.150654539C>T, XM_011532456.4:c.242G>T, XM_011532456.4:c.242G>A, XM_011532456.3:c.242G>T, XM_011532456.3:c.242G>A, XM_011532456.2:c.242G>T, XM_011532456.2:c.242G>A, XM_011532456.1:c.242G>T, XM_011532456.1:c.242G>A, XM_017008901.3:c.242G>T, XM_017008901.3:c.242G>A, XM_017008901.2:c.242G>T, XM_017008901.2:c.242G>A, XM_017008901.1:c.242G>T, XM_017008901.1:c.242G>A, XM_017008900.3:c.242G>T, XM_017008900.3:c.242G>A, XM_017008900.2:c.242G>T, XM_017008900.2:c.242G>A, XM_017008900.1:c.242G>T, XM_017008900.1:c.242G>A, XM_017008903.3:c.242G>T, XM_017008903.3:c.242G>A, XM_017008903.2:c.242G>T, XM_017008903.2:c.242G>A, XM_017008903.1:c.242G>T, XM_017008903.1:c.242G>A, XM_017008902.3:c.242G>T, XM_017008902.3:c.242G>A, XM_017008902.2:c.242G>T, XM_017008902.2:c.242G>A, XM_017008902.1:c.242G>T, XM_017008902.1:c.242G>A, XM_017008904.3:c.-167G>T, XM_017008904.3:c.-167G>A, XM_017008904.2:c.-167G>T, XM_017008904.2:c.-167G>A, XM_017008904.1:c.-167G>T, XM_017008904.1:c.-167G>A, NM_001363507.2:c.242G>T, NM_001363507.2:c.242G>A, NM_001363507.1:c.242G>T, NM_001363507.1:c.242G>A, NM_001363509.2:c.242G>T, NM_001363509.2:c.242G>A, NM_001363509.1:c.242G>T, NM_001363509.1:c.242G>A, NM_001378177.1:c.242G>T, NM_001378177.1:c.242G>A, NM_001378180.1:c.-115G>T, NM_001378180.1:c.-115G>A, NM_001378179.1:c.242G>T, NM_001378179.1:c.242G>A, NM_001378178.1:c.242G>T, NM_001378178.1:c.242G>A, NM_001378182.1:c.-115G>T, NM_001378182.1:c.-115G>A, NM_001378181.1:c.-167G>T, NM_001378181.1:c.-167G>A, NM_001378184.1:c.-115G>T, NM_001378184.1:c.-115G>A, NM_001378187.1:c.242G>T, NM_001378187.1:c.242G>A, NM_001378185.1:c.242G>T, NM_001378185.1:c.242G>A, NM_001378186.1:c.242G>T, NM_001378186.1:c.242G>A, XP_011530758.1:p.Arg81Leu, XP_011530758.1:p.Arg81Gln, XP_016864390.1:p.Arg81Leu, XP_016864390.1:p.Arg81Gln, XP_016864389.1:p.Arg81Leu, XP_016864389.1:p.Arg81Gln, XP_016864392.1:p.Arg81Leu, XP_016864392.1:p.Arg81Gln, XP_016864391.1:p.Arg81Leu, XP_016864391.1:p.Arg81Gln, NP_001350436.1:p.Arg81Leu, NP_001350436.1:p.Arg81Gln, NP_001350438.1:p.Arg81Leu, NP_001350438.1:p.Arg81Gln, NP_001365106.1:p.Arg81Leu, NP_001365106.1:p.Arg81Gln, NP_001365108.1:p.Arg81Leu, NP_001365108.1:p.Arg81Gln, NP_001365107.1:p.Arg81Leu, NP_001365107.1:p.Arg81Gln, NP_001365116.1:p.Arg81Leu, NP_001365116.1:p.Arg81Gln, NP_001365114.1:p.Arg81Leu, NP_001365114.1:p.Arg81Gln, NP_001365115.1:p.Arg81Leu, NP_001365115.1:p.Arg81Gln

          5.

          rs1481091793 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            4:149610057 (GRCh38)
            4:150531209 (GRCh37)
            Canonical SPDI:
            NC_000004.12:149610056:G:A
            Gene:
            IQCM (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000035/1 (TOMMO)
            A=0.000072/10 (GnomAD)
            A=0.000072/19 (TOPMED)
            HGVS:

            6.

            rs1480158463 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              4:149433405 (GRCh38)
              4:150354557 (GRCh37)
              Canonical SPDI:
              NC_000004.12:149433404:T:C
              Gene:
              IQCM (Varview)
              Functional Consequence:
              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
              HGVS:
              NC_000004.12:g.149433405T>C, NC_000004.11:g.150354557T>C, XM_017008901.3:c.1420A>G, XM_017008901.2:c.1420A>G, XM_017008901.1:c.1420A>G, XM_017008900.3:c.1420A>G, XM_017008900.2:c.1420A>G, XM_017008900.1:c.1420A>G, XM_017008903.3:c.1381A>G, XM_017008903.2:c.1381A>G, XM_017008903.1:c.1381A>G, XM_017008902.3:c.1420A>G, XM_017008902.2:c.1420A>G, XM_017008902.1:c.1420A>G, XM_017008904.3:c.1012A>G, XM_017008904.2:c.1012A>G, XM_017008904.1:c.1012A>G, NM_001363507.2:c.1381A>G, NM_001363507.1:c.1381A>G, NM_001363509.2:c.1381A>G, NM_001363509.1:c.1381A>G, NM_001378177.1:c.1420A>G, NM_001378180.1:c.934A>G, NM_001378179.1:c.1381A>G, NM_001378178.1:c.1420A>G, NM_001378182.1:c.973A>G, NM_001378181.1:c.973A>G, NM_001378184.1:c.934A>G, XM_047450076.1:c.973A>G, XP_016864390.1:p.Arg474Gly, XP_016864389.1:p.Arg474Gly, XP_016864392.1:p.Arg461Gly, XP_016864391.1:p.Arg474Gly, XP_016864393.1:p.Arg338Gly, NP_001350436.1:p.Arg461Gly, NP_001350438.1:p.Arg461Gly, NP_001365106.1:p.Arg474Gly, NP_001365109.1:p.Arg312Gly, NP_001365108.1:p.Arg461Gly, NP_001365107.1:p.Arg474Gly, NP_001365111.1:p.Arg325Gly, NP_001365110.1:p.Arg325Gly, NP_001365113.1:p.Arg312Gly, XP_047306032.1:p.Arg325Gly

              7.

              rs1476973319 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                4:149563829 (GRCh38)
                4:150484981 (GRCh37)
                Canonical SPDI:
                NC_000004.12:149563828:G:A
                Gene:
                IQCM (Varview)
                Functional Consequence:
                missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000094/1 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000004.12:g.149563829G>A, NC_000004.11:g.150484981G>A, XM_011532456.4:c.850C>T, XM_011532456.3:c.850C>T, XM_011532456.2:c.850C>T, XM_011532456.1:c.850C>T, XM_017008901.3:c.850C>T, XM_017008901.2:c.850C>T, XM_017008901.1:c.850C>T, XM_017008900.3:c.850C>T, XM_017008900.2:c.850C>T, XM_017008900.1:c.850C>T, XM_017008903.3:c.811C>T, XM_017008903.2:c.811C>T, XM_017008903.1:c.811C>T, XM_017008902.3:c.850C>T, XM_017008902.2:c.850C>T, XM_017008902.1:c.850C>T, XM_017008904.3:c.442C>T, XM_017008904.2:c.442C>T, XM_017008904.1:c.442C>T, NM_001363507.2:c.811C>T, NM_001363507.1:c.811C>T, NM_001363509.2:c.811C>T, NM_001363509.1:c.811C>T, NM_001378177.1:c.850C>T, NM_001378180.1:c.364C>T, NM_001378179.1:c.811C>T, NM_001378178.1:c.850C>T, NM_001378182.1:c.403C>T, NM_001378181.1:c.403C>T, NM_001378184.1:c.364C>T, XM_047450076.1:c.403C>T, XP_011530758.1:p.His284Tyr, XP_016864390.1:p.His284Tyr, XP_016864389.1:p.His284Tyr, XP_016864392.1:p.His271Tyr, XP_016864391.1:p.His284Tyr, XP_016864393.1:p.His148Tyr, NP_001350436.1:p.His271Tyr, NP_001350438.1:p.His271Tyr, NP_001365106.1:p.His284Tyr, NP_001365109.1:p.His122Tyr, NP_001365108.1:p.His271Tyr, NP_001365107.1:p.His284Tyr, NP_001365111.1:p.His135Tyr, NP_001365110.1:p.His135Tyr, NP_001365113.1:p.His122Tyr, XP_047306032.1:p.His135Tyr

                8.

                rs1472710472 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  A>- [Show Flanks]
                  Chromosome:
                  4:149587977 (GRCh38)
                  4:150509129 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:149587976:AA:A
                  Gene:
                  IQCM (Varview)
                  Functional Consequence:
                  frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AA=0./0 (ALFA)
                  -=0.000026/7 (TOPMED)
                  -=0.000029/4 (GnomAD)
                  HGVS:
                  NC_000004.12:g.149587978del, NC_000004.11:g.150509130del, XM_011532456.4:c.741del, XM_011532456.3:c.741del, XM_011532456.2:c.741del, XM_011532456.1:c.741del, XM_017008901.3:c.741del, XM_017008901.2:c.741del, XM_017008901.1:c.741del, XM_017008900.3:c.741del, XM_017008900.2:c.741del, XM_017008900.1:c.741del, XM_017008903.3:c.702del, XM_017008903.2:c.702del, XM_017008903.1:c.702del, XM_017008902.3:c.741del, XM_017008902.2:c.741del, XM_017008902.1:c.741del, XM_017008904.3:c.333del, XM_017008904.2:c.333del, XM_017008904.1:c.333del, NM_001363507.2:c.702del, NM_001363507.1:c.702del, NM_001363509.2:c.702del, NM_001363509.1:c.702del, NM_001378177.1:c.741del, NM_001378180.1:c.255del, NM_001378179.1:c.702del, NM_001378178.1:c.741del, NM_001378182.1:c.294del, NM_001378181.1:c.294del, NM_001378184.1:c.255del, XM_047450076.1:c.294del, XP_011530758.1:p.Lys249fs, XP_016864390.1:p.Lys249fs, XP_016864389.1:p.Lys249fs, XP_016864392.1:p.Lys236fs, XP_016864391.1:p.Lys249fs, XP_016864393.1:p.Lys113fs, NP_001350436.1:p.Lys236fs, NP_001350438.1:p.Lys236fs, NP_001365106.1:p.Lys249fs, NP_001365109.1:p.Lys87fs, NP_001365108.1:p.Lys236fs, NP_001365107.1:p.Lys249fs, NP_001365111.1:p.Lys100fs, NP_001365110.1:p.Lys100fs, NP_001365113.1:p.Lys87fs, XP_047306032.1:p.Lys100fs

                  9.

                  rs1471407561 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    4:149563754 (GRCh38)
                    4:150484906 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:149563753:C:T
                    Gene:
                    IQCM (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000071/1 (ALFA)
                    T=0.000011/3 (TOPMED)
                    HGVS:
                    NC_000004.12:g.149563754C>T, NC_000004.11:g.150484906C>T, XM_011532456.4:c.925G>A, XM_011532456.3:c.925G>A, XM_011532456.2:c.925G>A, XM_011532456.1:c.925G>A, XM_017008901.3:c.925G>A, XM_017008901.2:c.925G>A, XM_017008901.1:c.925G>A, XM_017008900.3:c.925G>A, XM_017008900.2:c.925G>A, XM_017008900.1:c.925G>A, XM_017008903.3:c.886G>A, XM_017008903.2:c.886G>A, XM_017008903.1:c.886G>A, XM_017008902.3:c.925G>A, XM_017008902.2:c.925G>A, XM_017008902.1:c.925G>A, XM_017008904.3:c.517G>A, XM_017008904.2:c.517G>A, XM_017008904.1:c.517G>A, NM_001363507.2:c.886G>A, NM_001363507.1:c.886G>A, NM_001363509.2:c.886G>A, NM_001363509.1:c.886G>A, NM_001378177.1:c.925G>A, NM_001378180.1:c.439G>A, NM_001378179.1:c.886G>A, NM_001378178.1:c.925G>A, NM_001378182.1:c.478G>A, NM_001378181.1:c.478G>A, NM_001378184.1:c.439G>A, XM_047450076.1:c.478G>A, XP_011530758.1:p.Val309Ile, XP_016864390.1:p.Val309Ile, XP_016864389.1:p.Val309Ile, XP_016864392.1:p.Val296Ile, XP_016864391.1:p.Val309Ile, XP_016864393.1:p.Val173Ile, NP_001350436.1:p.Val296Ile, NP_001350438.1:p.Val296Ile, NP_001365106.1:p.Val309Ile, NP_001365109.1:p.Val147Ile, NP_001365108.1:p.Val296Ile, NP_001365107.1:p.Val309Ile, NP_001365111.1:p.Val160Ile, NP_001365110.1:p.Val160Ile, NP_001365113.1:p.Val147Ile, XP_047306032.1:p.Val160Ile

                    10.

                    rs1468723026 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      4:149563804 (GRCh38)
                      4:150484956 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:149563803:C:T
                      Gene:
                      IQCM (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0.000084/1 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000004.12:g.149563804C>T, NC_000004.11:g.150484956C>T, XM_011532456.4:c.875G>A, XM_011532456.3:c.875G>A, XM_011532456.2:c.875G>A, XM_011532456.1:c.875G>A, XM_017008901.3:c.875G>A, XM_017008901.2:c.875G>A, XM_017008901.1:c.875G>A, XM_017008900.3:c.875G>A, XM_017008900.2:c.875G>A, XM_017008900.1:c.875G>A, XM_017008903.3:c.836G>A, XM_017008903.2:c.836G>A, XM_017008903.1:c.836G>A, XM_017008902.3:c.875G>A, XM_017008902.2:c.875G>A, XM_017008902.1:c.875G>A, XM_017008904.3:c.467G>A, XM_017008904.2:c.467G>A, XM_017008904.1:c.467G>A, NM_001363507.2:c.836G>A, NM_001363507.1:c.836G>A, NM_001363509.2:c.836G>A, NM_001363509.1:c.836G>A, NM_001378177.1:c.875G>A, NM_001378180.1:c.389G>A, NM_001378179.1:c.836G>A, NM_001378178.1:c.875G>A, NM_001378182.1:c.428G>A, NM_001378181.1:c.428G>A, NM_001378184.1:c.389G>A, XM_047450076.1:c.428G>A, XP_011530758.1:p.Arg292Gln, XP_016864390.1:p.Arg292Gln, XP_016864389.1:p.Arg292Gln, XP_016864392.1:p.Arg279Gln, XP_016864391.1:p.Arg292Gln, XP_016864393.1:p.Arg156Gln, NP_001350436.1:p.Arg279Gln, NP_001350438.1:p.Arg279Gln, NP_001365106.1:p.Arg292Gln, NP_001365109.1:p.Arg130Gln, NP_001365108.1:p.Arg279Gln, NP_001365107.1:p.Arg292Gln, NP_001365111.1:p.Arg143Gln, NP_001365110.1:p.Arg143Gln, NP_001365113.1:p.Arg130Gln, XP_047306032.1:p.Arg143Gln

                      11.

                      rs1463953003 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        4:149563882 (GRCh38)
                        4:150485034 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:149563881:C:A,NC_000004.12:149563881:C:T
                        Gene:
                        IQCM (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000004.12:g.149563882C>A, NC_000004.12:g.149563882C>T, NC_000004.11:g.150485034C>A, NC_000004.11:g.150485034C>T, XM_011532456.4:c.797G>T, XM_011532456.4:c.797G>A, XM_011532456.3:c.797G>T, XM_011532456.3:c.797G>A, XM_011532456.2:c.797G>T, XM_011532456.2:c.797G>A, XM_011532456.1:c.797G>T, XM_011532456.1:c.797G>A, XM_017008901.3:c.797G>T, XM_017008901.3:c.797G>A, XM_017008901.2:c.797G>T, XM_017008901.2:c.797G>A, XM_017008901.1:c.797G>T, XM_017008901.1:c.797G>A, XM_017008900.3:c.797G>T, XM_017008900.3:c.797G>A, XM_017008900.2:c.797G>T, XM_017008900.2:c.797G>A, XM_017008900.1:c.797G>T, XM_017008900.1:c.797G>A, XM_017008903.3:c.758G>T, XM_017008903.3:c.758G>A, XM_017008903.2:c.758G>T, XM_017008903.2:c.758G>A, XM_017008903.1:c.758G>T, XM_017008903.1:c.758G>A, XM_017008902.3:c.797G>T, XM_017008902.3:c.797G>A, XM_017008902.2:c.797G>T, XM_017008902.2:c.797G>A, XM_017008902.1:c.797G>T, XM_017008902.1:c.797G>A, XM_017008904.3:c.389G>T, XM_017008904.3:c.389G>A, XM_017008904.2:c.389G>T, XM_017008904.2:c.389G>A, XM_017008904.1:c.389G>T, XM_017008904.1:c.389G>A, NM_001363507.2:c.758G>T, NM_001363507.2:c.758G>A, NM_001363507.1:c.758G>T, NM_001363507.1:c.758G>A, NM_001363509.2:c.758G>T, NM_001363509.2:c.758G>A, NM_001363509.1:c.758G>T, NM_001363509.1:c.758G>A, NM_001378177.1:c.797G>T, NM_001378177.1:c.797G>A, NM_001378180.1:c.311G>T, NM_001378180.1:c.311G>A, NM_001378179.1:c.758G>T, NM_001378179.1:c.758G>A, NM_001378178.1:c.797G>T, NM_001378178.1:c.797G>A, NM_001378182.1:c.350G>T, NM_001378182.1:c.350G>A, NM_001378181.1:c.350G>T, NM_001378181.1:c.350G>A, NM_001378184.1:c.311G>T, NM_001378184.1:c.311G>A, XM_047450076.1:c.350G>T, XM_047450076.1:c.350G>A, XP_011530758.1:p.Gly266Val, XP_011530758.1:p.Gly266Asp, XP_016864390.1:p.Gly266Val, XP_016864390.1:p.Gly266Asp, XP_016864389.1:p.Gly266Val, XP_016864389.1:p.Gly266Asp, XP_016864392.1:p.Gly253Val, XP_016864392.1:p.Gly253Asp, XP_016864391.1:p.Gly266Val, XP_016864391.1:p.Gly266Asp, XP_016864393.1:p.Gly130Val, XP_016864393.1:p.Gly130Asp, NP_001350436.1:p.Gly253Val, NP_001350436.1:p.Gly253Asp, NP_001350438.1:p.Gly253Val, NP_001350438.1:p.Gly253Asp, NP_001365106.1:p.Gly266Val, NP_001365106.1:p.Gly266Asp, NP_001365109.1:p.Gly104Val, NP_001365109.1:p.Gly104Asp, NP_001365108.1:p.Gly253Val, NP_001365108.1:p.Gly253Asp, NP_001365107.1:p.Gly266Val, NP_001365107.1:p.Gly266Asp, NP_001365111.1:p.Gly117Val, NP_001365111.1:p.Gly117Asp, NP_001365110.1:p.Gly117Val, NP_001365110.1:p.Gly117Asp, NP_001365113.1:p.Gly104Val, NP_001365113.1:p.Gly104Asp, XP_047306032.1:p.Gly117Val, XP_047306032.1:p.Gly117Asp

                        12.

                        rs1459110312 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          4:149352050 (GRCh38)
                          4:150273202 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:149352049:T:C
                          Gene:
                          IQCM (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1457612754 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,T [Show Flanks]
                            Chromosome:
                            4:149733491 (GRCh38)
                            4:150654643 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:149733490:A:C,NC_000004.12:149733490:A:T
                            Gene:
                            IQCM (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.000071/1 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000004.12:g.149733491A>C, NC_000004.12:g.149733491A>T, NC_000004.11:g.150654643A>C, NC_000004.11:g.150654643A>T, XM_011532456.4:c.138T>G, XM_011532456.4:c.138T>A, XM_011532456.3:c.138T>G, XM_011532456.3:c.138T>A, XM_011532456.2:c.138T>G, XM_011532456.2:c.138T>A, XM_011532456.1:c.138T>G, XM_011532456.1:c.138T>A, XM_017008901.3:c.138T>G, XM_017008901.3:c.138T>A, XM_017008901.2:c.138T>G, XM_017008901.2:c.138T>A, XM_017008901.1:c.138T>G, XM_017008901.1:c.138T>A, XM_017008900.3:c.138T>G, XM_017008900.3:c.138T>A, XM_017008900.2:c.138T>G, XM_017008900.2:c.138T>A, XM_017008900.1:c.138T>G, XM_017008900.1:c.138T>A, XM_017008903.3:c.138T>G, XM_017008903.3:c.138T>A, XM_017008903.2:c.138T>G, XM_017008903.2:c.138T>A, XM_017008903.1:c.138T>G, XM_017008903.1:c.138T>A, XM_017008902.3:c.138T>G, XM_017008902.3:c.138T>A, XM_017008902.2:c.138T>G, XM_017008902.2:c.138T>A, XM_017008902.1:c.138T>G, XM_017008902.1:c.138T>A, XM_017008904.3:c.-271T>G, XM_017008904.3:c.-271T>A, XM_017008904.2:c.-271T>G, XM_017008904.2:c.-271T>A, XM_017008904.1:c.-271T>G, XM_017008904.1:c.-271T>A, NM_001363507.2:c.138T>G, NM_001363507.2:c.138T>A, NM_001363507.1:c.138T>G, NM_001363507.1:c.138T>A, NM_001363509.2:c.138T>G, NM_001363509.2:c.138T>A, NM_001363509.1:c.138T>G, NM_001363509.1:c.138T>A, NM_001378177.1:c.138T>G, NM_001378177.1:c.138T>A, NM_001378180.1:c.-219T>G, NM_001378180.1:c.-219T>A, NM_001378179.1:c.138T>G, NM_001378179.1:c.138T>A, NM_001378178.1:c.138T>G, NM_001378178.1:c.138T>A, NM_001378182.1:c.-219T>G, NM_001378182.1:c.-219T>A, NM_001378181.1:c.-271T>G, NM_001378181.1:c.-271T>A, NM_001378184.1:c.-219T>G, NM_001378184.1:c.-219T>A, NM_001378187.1:c.138T>G, NM_001378187.1:c.138T>A, NM_001378185.1:c.138T>G, NM_001378185.1:c.138T>A, NM_001378186.1:c.138T>G, NM_001378186.1:c.138T>A

                            14.

                            rs1457156979 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              4:149735418 (GRCh38)
                              4:150656570 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:149735417:T:A
                              Gene:
                              IQCM (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0.000071/1 (ALFA)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000004.12:g.149735418T>A, NC_000004.11:g.150656570T>A, XM_011532456.4:c.78A>T, XM_011532456.3:c.78A>T, XM_011532456.2:c.78A>T, XM_011532456.1:c.78A>T, XM_017008901.3:c.78A>T, XM_017008901.2:c.78A>T, XM_017008901.1:c.78A>T, XM_017008900.3:c.78A>T, XM_017008900.2:c.78A>T, XM_017008900.1:c.78A>T, XM_017008903.3:c.78A>T, XM_017008903.2:c.78A>T, XM_017008903.1:c.78A>T, XM_017008902.3:c.78A>T, XM_017008902.2:c.78A>T, XM_017008902.1:c.78A>T, XM_017008904.3:c.-331A>T, XM_017008904.2:c.-331A>T, XM_017008904.1:c.-331A>T, NM_001363507.2:c.78A>T, NM_001363507.1:c.78A>T, NM_001363509.2:c.78A>T, NM_001363509.1:c.78A>T, NM_001378177.1:c.78A>T, NM_001378180.1:c.-279A>T, NM_001378179.1:c.78A>T, NM_001378178.1:c.78A>T, NM_001378182.1:c.-279A>T, NM_001378181.1:c.-331A>T, NM_001378184.1:c.-279A>T, NM_001378187.1:c.78A>T, NM_001378185.1:c.78A>T, NM_001378186.1:c.78A>T, XP_011530758.1:p.Glu26Asp, XP_016864390.1:p.Glu26Asp, XP_016864389.1:p.Glu26Asp, XP_016864392.1:p.Glu26Asp, XP_016864391.1:p.Glu26Asp, NP_001350436.1:p.Glu26Asp, NP_001350438.1:p.Glu26Asp, NP_001365106.1:p.Glu26Asp, NP_001365108.1:p.Glu26Asp, NP_001365107.1:p.Glu26Asp, NP_001365116.1:p.Glu26Asp, NP_001365114.1:p.Glu26Asp, NP_001365115.1:p.Glu26Asp

                              15.

                              rs1454851356 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                4:149563872 (GRCh38)
                                4:150485024 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:149563871:A:T
                                Gene:
                                IQCM (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000004.12:g.149563872A>T, NC_000004.11:g.150485024A>T, XM_011532456.4:c.807T>A, XM_011532456.3:c.807T>A, XM_011532456.2:c.807T>A, XM_011532456.1:c.807T>A, XM_017008901.3:c.807T>A, XM_017008901.2:c.807T>A, XM_017008901.1:c.807T>A, XM_017008900.3:c.807T>A, XM_017008900.2:c.807T>A, XM_017008900.1:c.807T>A, XM_017008903.3:c.768T>A, XM_017008903.2:c.768T>A, XM_017008903.1:c.768T>A, XM_017008902.3:c.807T>A, XM_017008902.2:c.807T>A, XM_017008902.1:c.807T>A, XM_017008904.3:c.399T>A, XM_017008904.2:c.399T>A, XM_017008904.1:c.399T>A, NM_001363507.2:c.768T>A, NM_001363507.1:c.768T>A, NM_001363509.2:c.768T>A, NM_001363509.1:c.768T>A, NM_001378177.1:c.807T>A, NM_001378180.1:c.321T>A, NM_001378179.1:c.768T>A, NM_001378178.1:c.807T>A, NM_001378182.1:c.360T>A, NM_001378181.1:c.360T>A, NM_001378184.1:c.321T>A, XM_047450076.1:c.360T>A, XP_011530758.1:p.Asn269Lys, XP_016864390.1:p.Asn269Lys, XP_016864389.1:p.Asn269Lys, XP_016864392.1:p.Asn256Lys, XP_016864391.1:p.Asn269Lys, XP_016864393.1:p.Asn133Lys, NP_001350436.1:p.Asn256Lys, NP_001350438.1:p.Asn256Lys, NP_001365106.1:p.Asn269Lys, NP_001365109.1:p.Asn107Lys, NP_001365108.1:p.Asn256Lys, NP_001365107.1:p.Asn269Lys, NP_001365111.1:p.Asn120Lys, NP_001365110.1:p.Asn120Lys, NP_001365113.1:p.Asn107Lys, XP_047306032.1:p.Asn120Lys

                                16.

                                rs1454605252 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  4:149548494 (GRCh38)
                                  4:150469646 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:149548493:G:A,NC_000004.12:149548493:G:C
                                  Gene:
                                  IQCM (Varview)
                                  Functional Consequence:
                                  stop_gained,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000004.12:g.149548494G>A, NC_000004.12:g.149548494G>C, NC_000004.11:g.150469646G>A, NC_000004.11:g.150469646G>C, XM_011532456.4:c.1228C>T, XM_011532456.4:c.1228C>G, XM_011532456.3:c.1228C>T, XM_011532456.3:c.1228C>G, XM_011532456.2:c.1228C>T, XM_011532456.2:c.1228C>G, XM_011532456.1:c.1228C>T, XM_011532456.1:c.1228C>G, XM_017008901.3:c.1228C>T, XM_017008901.3:c.1228C>G, XM_017008901.2:c.1228C>T, XM_017008901.2:c.1228C>G, XM_017008901.1:c.1228C>T, XM_017008901.1:c.1228C>G, XM_017008900.3:c.1228C>T, XM_017008900.3:c.1228C>G, XM_017008900.2:c.1228C>T, XM_017008900.2:c.1228C>G, XM_017008900.1:c.1228C>T, XM_017008900.1:c.1228C>G, XM_017008903.3:c.1189C>T, XM_017008903.3:c.1189C>G, XM_017008903.2:c.1189C>T, XM_017008903.2:c.1189C>G, XM_017008903.1:c.1189C>T, XM_017008903.1:c.1189C>G, XM_017008902.3:c.1228C>T, XM_017008902.3:c.1228C>G, XM_017008902.2:c.1228C>T, XM_017008902.2:c.1228C>G, XM_017008902.1:c.1228C>T, XM_017008902.1:c.1228C>G, XM_017008904.3:c.820C>T, XM_017008904.3:c.820C>G, XM_017008904.2:c.820C>T, XM_017008904.2:c.820C>G, XM_017008904.1:c.820C>T, XM_017008904.1:c.820C>G, NM_001363507.2:c.1189C>T, NM_001363507.2:c.1189C>G, NM_001363507.1:c.1189C>T, NM_001363507.1:c.1189C>G, NM_001363509.2:c.1189C>T, NM_001363509.2:c.1189C>G, NM_001363509.1:c.1189C>T, NM_001363509.1:c.1189C>G, NM_001378177.1:c.1228C>T, NM_001378177.1:c.1228C>G, NM_001378180.1:c.742C>T, NM_001378180.1:c.742C>G, NM_001378179.1:c.1189C>T, NM_001378179.1:c.1189C>G, NM_001378178.1:c.1228C>T, NM_001378178.1:c.1228C>G, NM_001378182.1:c.781C>T, NM_001378182.1:c.781C>G, NM_001378181.1:c.781C>T, NM_001378181.1:c.781C>G, NM_001378184.1:c.742C>T, NM_001378184.1:c.742C>G, XM_047450076.1:c.781C>T, XM_047450076.1:c.781C>G, XP_011530758.1:p.Gln410Ter, XP_011530758.1:p.Gln410Glu, XP_016864390.1:p.Gln410Ter, XP_016864390.1:p.Gln410Glu, XP_016864389.1:p.Gln410Ter, XP_016864389.1:p.Gln410Glu, XP_016864392.1:p.Gln397Ter, XP_016864392.1:p.Gln397Glu, XP_016864391.1:p.Gln410Ter, XP_016864391.1:p.Gln410Glu, XP_016864393.1:p.Gln274Ter, XP_016864393.1:p.Gln274Glu, NP_001350436.1:p.Gln397Ter, NP_001350436.1:p.Gln397Glu, NP_001350438.1:p.Gln397Ter, NP_001350438.1:p.Gln397Glu, NP_001365106.1:p.Gln410Ter, NP_001365106.1:p.Gln410Glu, NP_001365109.1:p.Gln248Ter, NP_001365109.1:p.Gln248Glu, NP_001365108.1:p.Gln397Ter, NP_001365108.1:p.Gln397Glu, NP_001365107.1:p.Gln410Ter, NP_001365107.1:p.Gln410Glu, NP_001365111.1:p.Gln261Ter, NP_001365111.1:p.Gln261Glu, NP_001365110.1:p.Gln261Ter, NP_001365110.1:p.Gln261Glu, NP_001365113.1:p.Gln248Ter, NP_001365113.1:p.Gln248Glu, XP_047306032.1:p.Gln261Ter, XP_047306032.1:p.Gln261Glu

                                  17.

                                  rs1454079739 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,G [Show Flanks]
                                    Chromosome:
                                    4:149621237 (GRCh38)
                                    4:150542389 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:149621236:T:A,NC_000004.12:149621236:T:G
                                    Gene:
                                    IQCM (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    A=0.000021/3 (GnomAD)
                                    HGVS:
                                    NC_000004.12:g.149621237T>A, NC_000004.12:g.149621237T>G, NC_000004.11:g.150542389T>A, NC_000004.11:g.150542389T>G, XM_011532456.4:c.573A>T, XM_011532456.4:c.573A>C, XM_011532456.3:c.573A>T, XM_011532456.3:c.573A>C, XM_011532456.2:c.573A>T, XM_011532456.2:c.573A>C, XM_011532456.1:c.573A>T, XM_011532456.1:c.573A>C, XM_017008901.3:c.573A>T, XM_017008901.3:c.573A>C, XM_017008901.2:c.573A>T, XM_017008901.2:c.573A>C, XM_017008901.1:c.573A>T, XM_017008901.1:c.573A>C, XM_017008900.3:c.573A>T, XM_017008900.3:c.573A>C, XM_017008900.2:c.573A>T, XM_017008900.2:c.573A>C, XM_017008900.1:c.573A>T, XM_017008900.1:c.573A>C, XM_017008903.3:c.573A>T, XM_017008903.3:c.573A>C, XM_017008903.2:c.573A>T, XM_017008903.2:c.573A>C, XM_017008903.1:c.573A>T, XM_017008903.1:c.573A>C, XM_017008902.3:c.573A>T, XM_017008902.3:c.573A>C, XM_017008902.2:c.573A>T, XM_017008902.2:c.573A>C, XM_017008902.1:c.573A>T, XM_017008902.1:c.573A>C, XM_017008904.3:c.165A>T, XM_017008904.3:c.165A>C, XM_017008904.2:c.165A>T, XM_017008904.2:c.165A>C, XM_017008904.1:c.165A>T, XM_017008904.1:c.165A>C, NM_001363507.2:c.573A>T, NM_001363507.2:c.573A>C, NM_001363507.1:c.573A>T, NM_001363507.1:c.573A>C, NM_001363509.2:c.573A>T, NM_001363509.2:c.573A>C, NM_001363509.1:c.573A>T, NM_001363509.1:c.573A>C, NM_001378177.1:c.573A>T, NM_001378177.1:c.573A>C, NM_001378180.1:c.126A>T, NM_001378180.1:c.126A>C, NM_001378179.1:c.573A>T, NM_001378179.1:c.573A>C, NM_001378178.1:c.573A>T, NM_001378178.1:c.573A>C, NM_001378182.1:c.126A>T, NM_001378182.1:c.126A>C, NM_001378181.1:c.165A>T, NM_001378181.1:c.165A>C, NM_001378184.1:c.126A>T, NM_001378184.1:c.126A>C, XM_047450076.1:c.126A>T, XM_047450076.1:c.126A>C

                                    18.

                                    rs1452160614 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      4:149553166 (GRCh38)
                                      4:150474318 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:149553165:T:A
                                      Gene:
                                      IQCM (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=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000004.12:g.149553166T>A, NC_000004.11:g.150474318T>A, XM_011532456.4:c.1109A>T, XM_011532456.3:c.1109A>T, XM_011532456.2:c.1109A>T, XM_011532456.1:c.1109A>T, XM_017008901.3:c.1109A>T, XM_017008901.2:c.1109A>T, XM_017008901.1:c.1109A>T, XM_017008900.3:c.1109A>T, XM_017008900.2:c.1109A>T, XM_017008900.1:c.1109A>T, XM_017008903.3:c.1070A>T, XM_017008903.2:c.1070A>T, XM_017008903.1:c.1070A>T, XM_017008902.3:c.1109A>T, XM_017008902.2:c.1109A>T, XM_017008902.1:c.1109A>T, XM_017008904.3:c.701A>T, XM_017008904.2:c.701A>T, XM_017008904.1:c.701A>T, NM_001363507.2:c.1070A>T, NM_001363507.1:c.1070A>T, NM_001363509.2:c.1070A>T, NM_001363509.1:c.1070A>T, NM_001378177.1:c.1109A>T, NM_001378180.1:c.623A>T, NM_001378179.1:c.1070A>T, NM_001378178.1:c.1109A>T, NM_001378182.1:c.662A>T, NM_001378181.1:c.662A>T, NM_001378184.1:c.623A>T, XM_047450076.1:c.662A>T, XP_011530758.1:p.Glu370Val, XP_016864390.1:p.Glu370Val, XP_016864389.1:p.Glu370Val, XP_016864392.1:p.Glu357Val, XP_016864391.1:p.Glu370Val, XP_016864393.1:p.Glu234Val, NP_001350436.1:p.Glu357Val, NP_001350438.1:p.Glu357Val, NP_001365106.1:p.Glu370Val, NP_001365109.1:p.Glu208Val, NP_001365108.1:p.Glu357Val, NP_001365107.1:p.Glu370Val, NP_001365111.1:p.Glu221Val, NP_001365110.1:p.Glu221Val, NP_001365113.1:p.Glu208Val, XP_047306032.1:p.Glu221Val

                                      19.

                                      rs1451756176 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        4:149548555 (GRCh38)
                                        4:150469707 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:149548554:C:G
                                        Gene:
                                        IQCM (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000004.12:g.149548555C>G, NC_000004.11:g.150469707C>G, XM_011532456.4:c.1167G>C, XM_011532456.3:c.1167G>C, XM_011532456.2:c.1167G>C, XM_011532456.1:c.1167G>C, XM_017008901.3:c.1167G>C, XM_017008901.2:c.1167G>C, XM_017008901.1:c.1167G>C, XM_017008900.3:c.1167G>C, XM_017008900.2:c.1167G>C, XM_017008900.1:c.1167G>C, XM_017008903.3:c.1128G>C, XM_017008903.2:c.1128G>C, XM_017008903.1:c.1128G>C, XM_017008902.3:c.1167G>C, XM_017008902.2:c.1167G>C, XM_017008902.1:c.1167G>C, XM_017008904.3:c.759G>C, XM_017008904.2:c.759G>C, XM_017008904.1:c.759G>C, NM_001363507.2:c.1128G>C, NM_001363507.1:c.1128G>C, NM_001363509.2:c.1128G>C, NM_001363509.1:c.1128G>C, NM_001378177.1:c.1167G>C, NM_001378180.1:c.681G>C, NM_001378179.1:c.1128G>C, NM_001378178.1:c.1167G>C, NM_001378182.1:c.720G>C, NM_001378181.1:c.720G>C, NM_001378184.1:c.681G>C, XM_047450076.1:c.720G>C, XP_011530758.1:p.Trp389Cys, XP_016864390.1:p.Trp389Cys, XP_016864389.1:p.Trp389Cys, XP_016864392.1:p.Trp376Cys, XP_016864391.1:p.Trp389Cys, XP_016864393.1:p.Trp253Cys, NP_001350436.1:p.Trp376Cys, NP_001350438.1:p.Trp376Cys, NP_001365106.1:p.Trp389Cys, NP_001365109.1:p.Trp227Cys, NP_001365108.1:p.Trp376Cys, NP_001365107.1:p.Trp389Cys, NP_001365111.1:p.Trp240Cys, NP_001365110.1:p.Trp240Cys, NP_001365113.1:p.Trp227Cys, XP_047306032.1:p.Trp240Cys

                                        20.

                                        rs1447177968 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->T [Show Flanks]
                                          Chromosome:
                                          4:149433453 (GRCh38)
                                          4:150354606 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:149433453:T:TT
                                          Gene:
                                          IQCM (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TT=0.000214/3 (ALFA)
                                          T=0.0001/14 (GnomAD)
                                          T=0.00011/29 (TOPMED)
                                          HGVS:
                                          NC_000004.12:g.149433454dup, NC_000004.11:g.150354606dup, XM_017008901.3:c.1371dup, XM_017008901.2:c.1371dup, XM_017008901.1:c.1371dup, XM_017008900.3:c.1371dup, XM_017008900.2:c.1371dup, XM_017008900.1:c.1371dup, XM_017008903.3:c.1332dup, XM_017008903.2:c.1332dup, XM_017008903.1:c.1332dup, XM_017008902.3:c.1371dup, XM_017008902.2:c.1371dup, XM_017008902.1:c.1371dup, XM_017008904.3:c.963dup, XM_017008904.2:c.963dup, XM_017008904.1:c.963dup, NM_001363507.2:c.1332dup, NM_001363507.1:c.1332dup, NM_001363509.2:c.1332dup, NM_001363509.1:c.1332dup, NM_001378177.1:c.1371dup, NM_001378180.1:c.885dup, NM_001378179.1:c.1332dup, NM_001378178.1:c.1371dup, NM_001378182.1:c.924dup, NM_001378181.1:c.924dup, NM_001378184.1:c.885dup, XM_047450076.1:c.924dup, XP_016864390.1:p.Leu458fs, XP_016864389.1:p.Leu458fs, XP_016864392.1:p.Leu445fs, XP_016864391.1:p.Leu458fs, XP_016864393.1:p.Leu322fs, NP_001350436.1:p.Leu445fs, NP_001350438.1:p.Leu445fs, NP_001365106.1:p.Leu458fs, NP_001365109.1:p.Leu296fs, NP_001365108.1:p.Leu445fs, NP_001365107.1:p.Leu458fs, NP_001365111.1:p.Leu309fs, NP_001365110.1:p.Leu309fs, NP_001365113.1:p.Leu296fs, XP_047306032.1:p.Leu309fs

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