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Items: 1 to 20 of 438

1.

rs1490599776 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    11:903098 (GRCh38)
    11:903098 (GRCh37)
    Canonical SPDI:
    NC_000011.10:903097:T:C
    Gene:
    CHID1 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000011.10:g.903098T>C, NC_000011.9:g.903098T>C, NM_023947.4:c.125A>G, NM_023947.3:c.125A>G, XM_011520302.4:c.380A>G, XM_011520302.3:c.380A>G, XM_011520302.2:c.380A>G, XM_011520302.1:c.380A>G, XM_011520301.4:c.380A>G, XM_011520301.3:c.380A>G, XM_011520301.2:c.380A>G, XM_011520301.1:c.380A>G, XM_011520299.3:c.380A>G, XM_011520299.2:c.380A>G, XM_011520299.1:c.380A>G, XM_011520300.3:c.380A>G, XM_011520300.2:c.380A>G, XM_011520300.1:c.380A>G, XM_017018167.3:c.125A>G, XM_017018167.2:c.125A>G, XM_017018167.1:c.125A>G, XM_017018166.2:c.125A>G, XM_017018166.1:c.125A>G, NM_001142674.2:c.125A>G, NM_001142674.1:c.125A>G, NM_001142676.2:c.200A>G, NM_001142676.1:c.200A>G, NM_001142675.2:c.125A>G, NM_001142675.1:c.125A>G, NM_001142677.2:c.125A>G, NM_001142677.1:c.125A>G, XM_024448663.2:c.125A>G, XM_024448663.1:c.125A>G, XM_047427481.1:c.125A>G, XM_047427480.1:c.125A>G, XM_047427479.1:c.125A>G, XM_047427484.1:c.125A>G, XM_047427482.1:c.380A>G, XM_047427483.1:c.125A>G, XM_047427486.1:c.125A>G, XM_047427485.1:c.125A>G, NP_076436.3:p.Asp42Gly, XP_011518604.1:p.Asp127Gly, XP_011518603.1:p.Asp127Gly, XP_011518601.1:p.Asp127Gly, XP_011518602.1:p.Asp127Gly, XP_016873656.1:p.Asp42Gly, XP_016873655.1:p.Asp42Gly, NP_001136146.1:p.Asp42Gly, NP_001136148.1:p.Asp67Gly, NP_001136147.1:p.Asp42Gly, NP_001136149.1:p.Asp42Gly, XP_024304431.1:p.Asp42Gly, XP_047283437.1:p.Asp42Gly, XP_047283436.1:p.Asp42Gly, XP_047283435.1:p.Asp42Gly, XP_047283440.1:p.Asp42Gly, XP_047283438.1:p.Asp127Gly, XP_047283439.1:p.Asp42Gly, XP_047283442.1:p.Asp42Gly, XP_047283441.1:p.Asp42Gly

    2.

    rs1489063390 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      11:884140 (GRCh38)
      11:884140 (GRCh37)
      Canonical SPDI:
      NC_000011.10:884139:T:C
      Gene:
      CHID1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000011.10:g.884140T>C, NC_000011.9:g.884140T>C, NM_023947.4:c.731A>G, NM_023947.3:c.731A>G, XM_011520302.4:c.986A>G, XM_011520302.3:c.986A>G, XM_011520302.2:c.986A>G, XM_011520302.1:c.986A>G, XM_011520301.4:c.986A>G, XM_011520301.3:c.986A>G, XM_011520301.2:c.986A>G, XM_011520301.1:c.986A>G, XM_011520299.3:c.986A>G, XM_011520299.2:c.986A>G, XM_011520299.1:c.986A>G, XM_011520300.3:c.893A>G, XM_011520300.2:c.893A>G, XM_011520300.1:c.893A>G, XM_017018167.3:c.731A>G, XM_017018167.2:c.731A>G, XM_017018167.1:c.731A>G, XM_017018166.2:c.731A>G, XM_017018166.1:c.731A>G, NM_001142674.2:c.731A>G, NM_001142674.1:c.731A>G, NM_001142676.2:c.806A>G, NM_001142676.1:c.806A>G, NM_001142675.2:c.731A>G, NM_001142675.1:c.731A>G, NM_001142677.2:c.638A>G, NM_001142677.1:c.638A>G, XM_024448663.2:c.731A>G, XM_024448663.1:c.731A>G, XM_047427481.1:c.731A>G, XM_047427480.1:c.731A>G, XM_047427479.1:c.731A>G, XM_047427484.1:c.638A>G, XM_047427482.1:c.893A>G, XM_047427483.1:c.731A>G, XM_047427486.1:c.638A>G, XM_047427485.1:c.638A>G, NP_076436.3:p.Lys244Arg, XP_011518604.1:p.Lys329Arg, XP_011518603.1:p.Lys329Arg, XP_011518601.1:p.Lys329Arg, XP_011518602.1:p.Lys298Arg, XP_016873656.1:p.Lys244Arg, XP_016873655.1:p.Lys244Arg, NP_001136146.1:p.Lys244Arg, NP_001136148.1:p.Lys269Arg, NP_001136147.1:p.Lys244Arg, NP_001136149.1:p.Lys213Arg, XP_024304431.1:p.Lys244Arg, XP_047283437.1:p.Lys244Arg, XP_047283436.1:p.Lys244Arg, XP_047283435.1:p.Lys244Arg, XP_047283440.1:p.Lys213Arg, XP_047283438.1:p.Lys298Arg, XP_047283439.1:p.Lys244Arg, XP_047283442.1:p.Lys213Arg, XP_047283441.1:p.Lys213Arg

      3.

      rs1488415148 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AT>- [Show Flanks]
        Chromosome:
        11:900041 (GRCh38)
        11:900041 (GRCh37)
        Canonical SPDI:
        NC_000011.10:900039:TAT:T
        Gene:
        CHID1 (Varview)
        Functional Consequence:
        frameshift_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        -=0.000004/1 (GnomAD_exomes)
        -=0.000004/1 (TOPMED)
        HGVS:
        NC_000011.10:g.900041_900042del, NC_000011.9:g.900041_900042del, NM_023947.4:c.509_510del, NM_023947.3:c.509_510del, XM_011520302.4:c.764_765del, XM_011520302.3:c.764_765del, XM_011520302.2:c.764_765del, XM_011520302.1:c.764_765del, XM_011520301.4:c.764_765del, XM_011520301.3:c.764_765del, XM_011520301.2:c.764_765del, XM_011520301.1:c.764_765del, XM_011520299.3:c.764_765del, XM_011520299.2:c.764_765del, XM_011520299.1:c.764_765del, XM_011520300.3:c.764_765del, XM_011520300.2:c.764_765del, XM_011520300.1:c.764_765del, XM_017018167.3:c.509_510del, XM_017018167.2:c.509_510del, XM_017018167.1:c.509_510del, XM_017018166.2:c.509_510del, XM_017018166.1:c.509_510del, NM_001142674.2:c.509_510del, NM_001142674.1:c.509_510del, NM_001142676.2:c.584_585del, NM_001142676.1:c.584_585del, NM_001142675.2:c.509_510del, NM_001142675.1:c.509_510del, NM_001142677.2:c.509_510del, NM_001142677.1:c.509_510del, XM_024448663.2:c.509_510del, XM_024448663.1:c.509_510del, XM_047427481.1:c.509_510del, XM_047427480.1:c.509_510del, XM_047427479.1:c.509_510del, XM_047427484.1:c.509_510del, XM_047427482.1:c.764_765del, XM_047427483.1:c.509_510del, XM_047427486.1:c.509_510del, XM_047427485.1:c.509_510del, NP_076436.3:p.Ile170fs, XP_011518604.1:p.Ile255fs, XP_011518603.1:p.Ile255fs, XP_011518601.1:p.Ile255fs, XP_011518602.1:p.Ile255fs, XP_016873656.1:p.Ile170fs, XP_016873655.1:p.Ile170fs, NP_001136146.1:p.Ile170fs, NP_001136148.1:p.Ile195fs, NP_001136147.1:p.Ile170fs, NP_001136149.1:p.Ile170fs, XP_024304431.1:p.Ile170fs, XP_047283437.1:p.Ile170fs, XP_047283436.1:p.Ile170fs, XP_047283435.1:p.Ile170fs, XP_047283440.1:p.Ile170fs, XP_047283438.1:p.Ile255fs, XP_047283439.1:p.Ile170fs, XP_047283442.1:p.Ile170fs, XP_047283441.1:p.Ile170fs

        4.

        rs1487517317 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          11:883176 (GRCh38)
          11:883176 (GRCh37)
          Canonical SPDI:
          NC_000011.10:883175:C:T
          Gene:
          CHID1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000011.10:g.883176C>T, NC_000011.9:g.883176C>T, NM_023947.4:c.931G>A, NM_023947.3:c.931G>A, XM_011520302.4:c.1186G>A, XM_011520302.3:c.1186G>A, XM_011520302.2:c.1186G>A, XM_011520302.1:c.1186G>A, XM_011520301.4:c.1186G>A, XM_011520301.3:c.1186G>A, XM_011520301.2:c.1186G>A, XM_011520301.1:c.1186G>A, XM_011520299.3:c.1186G>A, XM_011520299.2:c.1186G>A, XM_011520299.1:c.1186G>A, XM_011520300.3:c.1093G>A, XM_011520300.2:c.1093G>A, XM_011520300.1:c.1093G>A, XM_017018167.3:c.931G>A, XM_017018167.2:c.931G>A, XM_017018167.1:c.931G>A, XM_017018166.2:c.931G>A, XM_017018166.1:c.931G>A, NM_001142674.2:c.931G>A, NM_001142674.1:c.931G>A, NM_001142676.2:c.1006G>A, NM_001142676.1:c.1006G>A, NM_001142675.2:c.931G>A, NM_001142675.1:c.931G>A, NM_001142677.2:c.838G>A, NM_001142677.1:c.838G>A, XM_024448663.2:c.931G>A, XM_024448663.1:c.931G>A, XM_047427481.1:c.931G>A, XM_047427480.1:c.931G>A, XM_047427479.1:c.931G>A, XM_047427484.1:c.838G>A, XM_047427482.1:c.1093G>A, XM_047427483.1:c.931G>A, XM_047427486.1:c.838G>A, XM_047427485.1:c.838G>A, NP_076436.3:p.Asp311Asn, XP_011518604.1:p.Asp396Asn, XP_011518603.1:p.Asp396Asn, XP_011518601.1:p.Asp396Asn, XP_011518602.1:p.Asp365Asn, XP_016873656.1:p.Asp311Asn, XP_016873655.1:p.Asp311Asn, NP_001136146.1:p.Asp311Asn, NP_001136148.1:p.Asp336Asn, NP_001136147.1:p.Asp311Asn, NP_001136149.1:p.Asp280Asn, XP_024304431.1:p.Asp311Asn, XP_047283437.1:p.Asp311Asn, XP_047283436.1:p.Asp311Asn, XP_047283435.1:p.Asp311Asn, XP_047283440.1:p.Asp280Asn, XP_047283438.1:p.Asp365Asn, XP_047283439.1:p.Asp311Asn, XP_047283442.1:p.Asp280Asn, XP_047283441.1:p.Asp280Asn

          5.

          rs1487507985 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            11:884086 (GRCh38)
            11:884086 (GRCh37)
            Canonical SPDI:
            NC_000011.10:884085:T:A
            Gene:
            CHID1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000015/4 (TOPMED)
            HGVS:
            NC_000011.10:g.884086T>A, NC_000011.9:g.884086T>A, NM_023947.4:c.785A>T, NM_023947.3:c.785A>T, XM_011520302.4:c.1040A>T, XM_011520302.3:c.1040A>T, XM_011520302.2:c.1040A>T, XM_011520302.1:c.1040A>T, XM_011520301.4:c.1040A>T, XM_011520301.3:c.1040A>T, XM_011520301.2:c.1040A>T, XM_011520301.1:c.1040A>T, XM_011520299.3:c.1040A>T, XM_011520299.2:c.1040A>T, XM_011520299.1:c.1040A>T, XM_011520300.3:c.947A>T, XM_011520300.2:c.947A>T, XM_011520300.1:c.947A>T, XM_017018167.3:c.785A>T, XM_017018167.2:c.785A>T, XM_017018167.1:c.785A>T, XM_017018166.2:c.785A>T, XM_017018166.1:c.785A>T, NM_001142674.2:c.785A>T, NM_001142674.1:c.785A>T, NM_001142676.2:c.860A>T, NM_001142676.1:c.860A>T, NM_001142675.2:c.785A>T, NM_001142675.1:c.785A>T, NM_001142677.2:c.692A>T, NM_001142677.1:c.692A>T, XM_024448663.2:c.785A>T, XM_024448663.1:c.785A>T, XM_047427481.1:c.785A>T, XM_047427480.1:c.785A>T, XM_047427479.1:c.785A>T, XM_047427484.1:c.692A>T, XM_047427482.1:c.947A>T, XM_047427483.1:c.785A>T, XM_047427486.1:c.692A>T, XM_047427485.1:c.692A>T, NP_076436.3:p.Asp262Val, XP_011518604.1:p.Asp347Val, XP_011518603.1:p.Asp347Val, XP_011518601.1:p.Asp347Val, XP_011518602.1:p.Asp316Val, XP_016873656.1:p.Asp262Val, XP_016873655.1:p.Asp262Val, NP_001136146.1:p.Asp262Val, NP_001136148.1:p.Asp287Val, NP_001136147.1:p.Asp262Val, NP_001136149.1:p.Asp231Val, XP_024304431.1:p.Asp262Val, XP_047283437.1:p.Asp262Val, XP_047283436.1:p.Asp262Val, XP_047283435.1:p.Asp262Val, XP_047283440.1:p.Asp231Val, XP_047283438.1:p.Asp316Val, XP_047283439.1:p.Asp262Val, XP_047283442.1:p.Asp231Val, XP_047283441.1:p.Asp231Val

            6.

            rs1486910105 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              11:884092 (GRCh38)
              11:884092 (GRCh37)
              Canonical SPDI:
              NC_000011.10:884091:G:A
              Gene:
              CHID1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000008/2 (TOPMED)
              HGVS:
              NC_000011.10:g.884092G>A, NC_000011.9:g.884092G>A, NM_023947.4:c.779C>T, NM_023947.3:c.779C>T, XM_011520302.4:c.1034C>T, XM_011520302.3:c.1034C>T, XM_011520302.2:c.1034C>T, XM_011520302.1:c.1034C>T, XM_011520301.4:c.1034C>T, XM_011520301.3:c.1034C>T, XM_011520301.2:c.1034C>T, XM_011520301.1:c.1034C>T, XM_011520299.3:c.1034C>T, XM_011520299.2:c.1034C>T, XM_011520299.1:c.1034C>T, XM_011520300.3:c.941C>T, XM_011520300.2:c.941C>T, XM_011520300.1:c.941C>T, XM_017018167.3:c.779C>T, XM_017018167.2:c.779C>T, XM_017018167.1:c.779C>T, XM_017018166.2:c.779C>T, XM_017018166.1:c.779C>T, NM_001142674.2:c.779C>T, NM_001142674.1:c.779C>T, NM_001142676.2:c.854C>T, NM_001142676.1:c.854C>T, NM_001142675.2:c.779C>T, NM_001142675.1:c.779C>T, NM_001142677.2:c.686C>T, NM_001142677.1:c.686C>T, XM_024448663.2:c.779C>T, XM_024448663.1:c.779C>T, XM_047427481.1:c.779C>T, XM_047427480.1:c.779C>T, XM_047427479.1:c.779C>T, XM_047427484.1:c.686C>T, XM_047427482.1:c.941C>T, XM_047427483.1:c.779C>T, XM_047427486.1:c.686C>T, XM_047427485.1:c.686C>T, NP_076436.3:p.Thr260Ile, XP_011518604.1:p.Thr345Ile, XP_011518603.1:p.Thr345Ile, XP_011518601.1:p.Thr345Ile, XP_011518602.1:p.Thr314Ile, XP_016873656.1:p.Thr260Ile, XP_016873655.1:p.Thr260Ile, NP_001136146.1:p.Thr260Ile, NP_001136148.1:p.Thr285Ile, NP_001136147.1:p.Thr260Ile, NP_001136149.1:p.Thr229Ile, XP_024304431.1:p.Thr260Ile, XP_047283437.1:p.Thr260Ile, XP_047283436.1:p.Thr260Ile, XP_047283435.1:p.Thr260Ile, XP_047283440.1:p.Thr229Ile, XP_047283438.1:p.Thr314Ile, XP_047283439.1:p.Thr260Ile, XP_047283442.1:p.Thr229Ile, XP_047283441.1:p.Thr229Ile

              7.

              rs1481369979 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                11:904797 (GRCh38)
                11:904797 (GRCh37)
                Canonical SPDI:
                NC_000011.10:904796:A:G
                Gene:
                CHID1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000011.10:g.904797A>G, NC_000011.9:g.904797A>G, NM_023947.4:c.20T>C, NM_023947.3:c.20T>C, XM_011520302.4:c.275T>C, XM_011520302.3:c.275T>C, XM_011520302.2:c.275T>C, XM_011520302.1:c.275T>C, XM_011520301.4:c.275T>C, XM_011520301.3:c.275T>C, XM_011520301.2:c.275T>C, XM_011520301.1:c.275T>C, XM_011520299.3:c.275T>C, XM_011520299.2:c.275T>C, XM_011520299.1:c.275T>C, XM_011520300.3:c.275T>C, XM_011520300.2:c.275T>C, XM_011520300.1:c.275T>C, XM_017018167.3:c.20T>C, XM_017018167.2:c.20T>C, XM_017018167.1:c.20T>C, XM_017018166.2:c.20T>C, XM_017018166.1:c.20T>C, NM_001142674.2:c.20T>C, NM_001142674.1:c.20T>C, NM_001142676.2:c.20T>C, NM_001142676.1:c.20T>C, NM_001142675.2:c.20T>C, NM_001142675.1:c.20T>C, NM_001142677.2:c.20T>C, NM_001142677.1:c.20T>C, XM_024448663.2:c.20T>C, XM_024448663.1:c.20T>C, XM_047427481.1:c.20T>C, XM_047427480.1:c.20T>C, XM_047427479.1:c.20T>C, XM_047427484.1:c.20T>C, XM_047427482.1:c.275T>C, XM_047427483.1:c.20T>C, XM_047427486.1:c.20T>C, XM_047427485.1:c.20T>C, NP_076436.3:p.Leu7Pro, XP_011518604.1:p.Leu92Pro, XP_011518603.1:p.Leu92Pro, XP_011518601.1:p.Leu92Pro, XP_011518602.1:p.Leu92Pro, XP_016873656.1:p.Leu7Pro, XP_016873655.1:p.Leu7Pro, NP_001136146.1:p.Leu7Pro, NP_001136148.1:p.Leu7Pro, NP_001136147.1:p.Leu7Pro, NP_001136149.1:p.Leu7Pro, XP_024304431.1:p.Leu7Pro, XP_047283437.1:p.Leu7Pro, XP_047283436.1:p.Leu7Pro, XP_047283435.1:p.Leu7Pro, XP_047283440.1:p.Leu7Pro, XP_047283438.1:p.Leu92Pro, XP_047283439.1:p.Leu7Pro, XP_047283442.1:p.Leu7Pro, XP_047283441.1:p.Leu7Pro

                8.

                rs1469938918 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  11:869930 (GRCh38)
                  11:869930 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:869929:G:A
                  Gene:
                  CHID1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1468389732 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    11:869901 (GRCh38)
                    11:869901 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:869900:C:T
                    Gene:
                    CHID1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,stop_gained,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000224/1 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000223/1 (Estonian)
                    HGVS:
                    NC_000011.10:g.869901C>T, NC_000011.9:g.869901C>T, NM_023947.4:c.1139G>A, NM_023947.3:c.1139G>A, XM_011520299.3:c.1394G>A, XM_011520299.2:c.1394G>A, XM_011520299.1:c.1394G>A, XM_011520300.3:c.1301G>A, XM_011520300.2:c.1301G>A, XM_011520300.1:c.1301G>A, XM_017018166.2:c.1139G>A, XM_017018166.1:c.1139G>A, NM_001142674.2:c.1139G>A, NM_001142674.1:c.1139G>A, NM_001142676.2:c.1214G>A, NM_001142676.1:c.1214G>A, NM_001142675.2:c.1139G>A, NM_001142675.1:c.1139G>A, NM_001142677.2:c.1046G>A, NM_001142677.1:c.1046G>A, XM_047427481.1:c.1139G>A, XM_047427480.1:c.1139G>A, XM_047427479.1:c.1139G>A, XM_047427484.1:c.1046G>A, NP_076436.3:p.Trp380Ter, XP_011518601.1:p.Trp465Ter, XP_011518602.1:p.Trp434Ter, XP_016873655.1:p.Trp380Ter, NP_001136146.1:p.Trp380Ter, NP_001136148.1:p.Trp405Ter, NP_001136147.1:p.Trp380Ter, NP_001136149.1:p.Trp349Ter, XP_047283437.1:p.Trp380Ter, XP_047283436.1:p.Trp380Ter, XP_047283435.1:p.Trp380Ter, XP_047283440.1:p.Trp349Ter

                    10.

                    rs1465003824 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      CT>- [Show Flanks]
                      Chromosome:
                      11:870441 (GRCh38)
                      11:870441 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:870438:CTCT:CT
                      Gene:
                      CHID1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      CTCT=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      -=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000011.10:g.870439CT[1], NC_000011.9:g.870439CT[1], NM_023947.4:c.1019_1020del, NM_023947.3:c.1019_1020del, XM_011520299.3:c.1274_1275del, XM_011520299.2:c.1274_1275del, XM_011520299.1:c.1274_1275del, XM_011520300.3:c.1181_1182del, XM_011520300.2:c.1181_1182del, XM_011520300.1:c.1181_1182del, XM_017018166.2:c.1019_1020del, XM_017018166.1:c.1019_1020del, NM_001142674.2:c.1019_1020del, NM_001142674.1:c.1019_1020del, NM_001142676.2:c.1094_1095del, NM_001142676.1:c.1094_1095del, NM_001142675.2:c.1019_1020del, NM_001142675.1:c.1019_1020del, NM_001142677.2:c.926_927del, NM_001142677.1:c.926_927del, XM_047427481.1:c.1019_1020del, XM_047427480.1:c.1019_1020del, XM_047427479.1:c.1019_1020del, XM_047427484.1:c.926_927del, NP_076436.3:p.Glu340fs, XP_011518601.1:p.Glu425fs, XP_011518602.1:p.Glu394fs, XP_016873655.1:p.Glu340fs, NP_001136146.1:p.Glu340fs, NP_001136148.1:p.Glu365fs, NP_001136147.1:p.Glu340fs, NP_001136149.1:p.Glu309fs, XP_047283437.1:p.Glu340fs, XP_047283436.1:p.Glu340fs, XP_047283435.1:p.Glu340fs, XP_047283440.1:p.Glu309fs

                      11.

                      rs1464572112 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        11:893476 (GRCh38)
                        11:893476 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:893475:G:A,NC_000011.10:893475:G:C
                        Gene:
                        CHID1 (Varview)
                        Functional Consequence:
                        intron_variant,coding_sequence_variant,missense_variant,stop_gained
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        A=0.000013/2 (GnomAD_exomes)
                        HGVS:
                        NC_000011.10:g.893476G>A, NC_000011.10:g.893476G>C, NC_000011.9:g.893476G>A, NC_000011.9:g.893476G>C, NM_023947.4:c.652C>T, NM_023947.4:c.652C>G, NM_023947.3:c.652C>T, NM_023947.3:c.652C>G, XM_011520302.4:c.907C>T, XM_011520302.4:c.907C>G, XM_011520302.3:c.907C>T, XM_011520302.3:c.907C>G, XM_011520302.2:c.907C>T, XM_011520302.2:c.907C>G, XM_011520302.1:c.907C>T, XM_011520302.1:c.907C>G, XM_011520301.4:c.907C>T, XM_011520301.4:c.907C>G, XM_011520301.3:c.907C>T, XM_011520301.3:c.907C>G, XM_011520301.2:c.907C>T, XM_011520301.2:c.907C>G, XM_011520301.1:c.907C>T, XM_011520301.1:c.907C>G, XM_011520299.3:c.907C>T, XM_011520299.3:c.907C>G, XM_011520299.2:c.907C>T, XM_011520299.2:c.907C>G, XM_011520299.1:c.907C>T, XM_011520299.1:c.907C>G, XM_017018167.3:c.652C>T, XM_017018167.3:c.652C>G, XM_017018167.2:c.652C>T, XM_017018167.2:c.652C>G, XM_017018167.1:c.652C>T, XM_017018167.1:c.652C>G, XM_017018166.2:c.652C>T, XM_017018166.2:c.652C>G, XM_017018166.1:c.652C>T, XM_017018166.1:c.652C>G, NM_001142674.2:c.652C>T, NM_001142674.2:c.652C>G, NM_001142674.1:c.652C>T, NM_001142674.1:c.652C>G, NM_001142676.2:c.727C>T, NM_001142676.2:c.727C>G, NM_001142676.1:c.727C>T, NM_001142676.1:c.727C>G, NM_001142675.2:c.652C>T, NM_001142675.2:c.652C>G, NM_001142675.1:c.652C>T, NM_001142675.1:c.652C>G, XM_024448663.2:c.652C>T, XM_024448663.2:c.652C>G, XM_024448663.1:c.652C>T, XM_024448663.1:c.652C>G, XM_047427481.1:c.652C>T, XM_047427481.1:c.652C>G, XM_047427480.1:c.652C>T, XM_047427480.1:c.652C>G, XM_047427479.1:c.652C>T, XM_047427479.1:c.652C>G, XM_047427483.1:c.652C>T, XM_047427483.1:c.652C>G, NP_076436.3:p.Gln218Ter, NP_076436.3:p.Gln218Glu, XP_011518604.1:p.Gln303Ter, XP_011518604.1:p.Gln303Glu, XP_011518603.1:p.Gln303Ter, XP_011518603.1:p.Gln303Glu, XP_011518601.1:p.Gln303Ter, XP_011518601.1:p.Gln303Glu, XP_016873656.1:p.Gln218Ter, XP_016873656.1:p.Gln218Glu, XP_016873655.1:p.Gln218Ter, XP_016873655.1:p.Gln218Glu, NP_001136146.1:p.Gln218Ter, NP_001136146.1:p.Gln218Glu, NP_001136148.1:p.Gln243Ter, NP_001136148.1:p.Gln243Glu, NP_001136147.1:p.Gln218Ter, NP_001136147.1:p.Gln218Glu, XP_024304431.1:p.Gln218Ter, XP_024304431.1:p.Gln218Glu, XP_047283437.1:p.Gln218Ter, XP_047283437.1:p.Gln218Glu, XP_047283436.1:p.Gln218Ter, XP_047283436.1:p.Gln218Glu, XP_047283435.1:p.Gln218Ter, XP_047283435.1:p.Gln218Glu, XP_047283439.1:p.Gln218Ter, XP_047283439.1:p.Gln218Glu

                        12.

                        rs1464058370 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          11:893516 (GRCh38)
                          11:893516 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:893515:G:A
                          Gene:
                          CHID1 (Varview)
                          Functional Consequence:
                          intron_variant,synonymous_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:

                          13.

                          rs1460810850 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            11:900071 (GRCh38)
                            11:900071 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:900070:A:G
                            Gene:
                            CHID1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000011.10:g.900071A>G, NC_000011.9:g.900071A>G, NM_023947.4:c.479T>C, NM_023947.3:c.479T>C, XM_011520302.4:c.734T>C, XM_011520302.3:c.734T>C, XM_011520302.2:c.734T>C, XM_011520302.1:c.734T>C, XM_011520301.4:c.734T>C, XM_011520301.3:c.734T>C, XM_011520301.2:c.734T>C, XM_011520301.1:c.734T>C, XM_011520299.3:c.734T>C, XM_011520299.2:c.734T>C, XM_011520299.1:c.734T>C, XM_011520300.3:c.734T>C, XM_011520300.2:c.734T>C, XM_011520300.1:c.734T>C, XM_017018167.3:c.479T>C, XM_017018167.2:c.479T>C, XM_017018167.1:c.479T>C, XM_017018166.2:c.479T>C, XM_017018166.1:c.479T>C, NM_001142674.2:c.479T>C, NM_001142674.1:c.479T>C, NM_001142676.2:c.554T>C, NM_001142676.1:c.554T>C, NM_001142675.2:c.479T>C, NM_001142675.1:c.479T>C, NM_001142677.2:c.479T>C, NM_001142677.1:c.479T>C, XM_024448663.2:c.479T>C, XM_024448663.1:c.479T>C, XM_047427481.1:c.479T>C, XM_047427480.1:c.479T>C, XM_047427479.1:c.479T>C, XM_047427484.1:c.479T>C, XM_047427482.1:c.734T>C, XM_047427483.1:c.479T>C, XM_047427486.1:c.479T>C, XM_047427485.1:c.479T>C, NP_076436.3:p.Phe160Ser, XP_011518604.1:p.Phe245Ser, XP_011518603.1:p.Phe245Ser, XP_011518601.1:p.Phe245Ser, XP_011518602.1:p.Phe245Ser, XP_016873656.1:p.Phe160Ser, XP_016873655.1:p.Phe160Ser, NP_001136146.1:p.Phe160Ser, NP_001136148.1:p.Phe185Ser, NP_001136147.1:p.Phe160Ser, NP_001136149.1:p.Phe160Ser, XP_024304431.1:p.Phe160Ser, XP_047283437.1:p.Phe160Ser, XP_047283436.1:p.Phe160Ser, XP_047283435.1:p.Phe160Ser, XP_047283440.1:p.Phe160Ser, XP_047283438.1:p.Phe245Ser, XP_047283439.1:p.Phe160Ser, XP_047283442.1:p.Phe160Ser, XP_047283441.1:p.Phe160Ser

                            14.

                            rs1455281031 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              11:893510 (GRCh38)
                              11:893510 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:893509:G:A,NC_000011.10:893509:G:C
                              Gene:
                              CHID1 (Varview)
                              Functional Consequence:
                              intron_variant,missense_variant,synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000011.10:g.893510G>A, NC_000011.10:g.893510G>C, NC_000011.9:g.893510G>A, NC_000011.9:g.893510G>C, NM_023947.4:c.618C>T, NM_023947.4:c.618C>G, NM_023947.3:c.618C>T, NM_023947.3:c.618C>G, XM_011520302.4:c.873C>T, XM_011520302.4:c.873C>G, XM_011520302.3:c.873C>T, XM_011520302.3:c.873C>G, XM_011520302.2:c.873C>T, XM_011520302.2:c.873C>G, XM_011520302.1:c.873C>T, XM_011520302.1:c.873C>G, XM_011520301.4:c.873C>T, XM_011520301.4:c.873C>G, XM_011520301.3:c.873C>T, XM_011520301.3:c.873C>G, XM_011520301.2:c.873C>T, XM_011520301.2:c.873C>G, XM_011520301.1:c.873C>T, XM_011520301.1:c.873C>G, XM_011520299.3:c.873C>T, XM_011520299.3:c.873C>G, XM_011520299.2:c.873C>T, XM_011520299.2:c.873C>G, XM_011520299.1:c.873C>T, XM_011520299.1:c.873C>G, XM_017018167.3:c.618C>T, XM_017018167.3:c.618C>G, XM_017018167.2:c.618C>T, XM_017018167.2:c.618C>G, XM_017018167.1:c.618C>T, XM_017018167.1:c.618C>G, XM_017018166.2:c.618C>T, XM_017018166.2:c.618C>G, XM_017018166.1:c.618C>T, XM_017018166.1:c.618C>G, NM_001142674.2:c.618C>T, NM_001142674.2:c.618C>G, NM_001142674.1:c.618C>T, NM_001142674.1:c.618C>G, NM_001142676.2:c.693C>T, NM_001142676.2:c.693C>G, NM_001142676.1:c.693C>T, NM_001142676.1:c.693C>G, NM_001142675.2:c.618C>T, NM_001142675.2:c.618C>G, NM_001142675.1:c.618C>T, NM_001142675.1:c.618C>G, XM_024448663.2:c.618C>T, XM_024448663.2:c.618C>G, XM_024448663.1:c.618C>T, XM_024448663.1:c.618C>G, XM_047427481.1:c.618C>T, XM_047427481.1:c.618C>G, XM_047427480.1:c.618C>T, XM_047427480.1:c.618C>G, XM_047427479.1:c.618C>T, XM_047427479.1:c.618C>G, XM_047427483.1:c.618C>T, XM_047427483.1:c.618C>G, NP_076436.3:p.Ile206Met, XP_011518604.1:p.Ile291Met, XP_011518603.1:p.Ile291Met, XP_011518601.1:p.Ile291Met, XP_016873656.1:p.Ile206Met, XP_016873655.1:p.Ile206Met, NP_001136146.1:p.Ile206Met, NP_001136148.1:p.Ile231Met, NP_001136147.1:p.Ile206Met, XP_024304431.1:p.Ile206Met, XP_047283437.1:p.Ile206Met, XP_047283436.1:p.Ile206Met, XP_047283435.1:p.Ile206Met, XP_047283439.1:p.Ile206Met

                              15.

                              rs1449957305 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                11:893432 (GRCh38)
                                11:893432 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:893431:G:A
                                Gene:
                                CHID1 (Varview)
                                Functional Consequence:
                                intron_variant,synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000006/1 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1449934133 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  11:870456 (GRCh38)
                                  11:870456 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:870455:C:T
                                  Gene:
                                  CHID1 (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  T=0.000011/3 (TOPMED)
                                  T=0.000546/1 (Korea1K)
                                  HGVS:
                                  NC_000011.10:g.870456C>T, NC_000011.9:g.870456C>T, NM_023947.4:c.1003G>A, NM_023947.3:c.1003G>A, XM_011520299.3:c.1258G>A, XM_011520299.2:c.1258G>A, XM_011520299.1:c.1258G>A, XM_011520300.3:c.1165G>A, XM_011520300.2:c.1165G>A, XM_011520300.1:c.1165G>A, XM_017018166.2:c.1003G>A, XM_017018166.1:c.1003G>A, NM_001142674.2:c.1003G>A, NM_001142674.1:c.1003G>A, NM_001142676.2:c.1078G>A, NM_001142676.1:c.1078G>A, NM_001142675.2:c.1003G>A, NM_001142675.1:c.1003G>A, NM_001142677.2:c.910G>A, NM_001142677.1:c.910G>A, XM_047427481.1:c.1003G>A, XM_047427480.1:c.1003G>A, XM_047427479.1:c.1003G>A, XM_047427484.1:c.910G>A, NP_076436.3:p.Asp335Asn, XP_011518601.1:p.Asp420Asn, XP_011518602.1:p.Asp389Asn, XP_016873655.1:p.Asp335Asn, NP_001136146.1:p.Asp335Asn, NP_001136148.1:p.Asp360Asn, NP_001136147.1:p.Asp335Asn, NP_001136149.1:p.Asp304Asn, XP_047283437.1:p.Asp335Asn, XP_047283436.1:p.Asp335Asn, XP_047283435.1:p.Asp335Asn, XP_047283440.1:p.Asp304Asn

                                  17.

                                  rs1449013855 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    G>-,GG [Show Flanks]
                                    Chromosome:
                                    11:893429 (GRCh38)
                                    11:893429 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:893428:GGGGG:GGGG,NC_000011.10:893428:GGGGG:GGGGGG
                                    Gene:
                                    CHID1 (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,frameshift_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    -=0.00007/1 (TOMMO)
                                    HGVS:
                                    NC_000011.10:g.893433del, NC_000011.10:g.893433dup, NC_000011.9:g.893433del, NC_000011.9:g.893433dup, NM_023947.4:c.699del, NM_023947.4:c.699dup, NM_023947.3:c.699del, NM_023947.3:c.699dup, XM_011520302.4:c.954del, XM_011520302.4:c.954dup, XM_011520302.3:c.954del, XM_011520302.3:c.954dup, XM_011520302.2:c.954del, XM_011520302.2:c.954dup, XM_011520302.1:c.954del, XM_011520302.1:c.954dup, XM_011520301.4:c.954del, XM_011520301.4:c.954dup, XM_011520301.3:c.954del, XM_011520301.3:c.954dup, XM_011520301.2:c.954del, XM_011520301.2:c.954dup, XM_011520301.1:c.954del, XM_011520301.1:c.954dup, XM_011520299.3:c.954del, XM_011520299.3:c.954dup, XM_011520299.2:c.954del, XM_011520299.2:c.954dup, XM_011520299.1:c.954del, XM_011520299.1:c.954dup, XM_017018167.3:c.699del, XM_017018167.3:c.699dup, XM_017018167.2:c.699del, XM_017018167.2:c.699dup, XM_017018167.1:c.699del, XM_017018167.1:c.699dup, XM_017018166.2:c.699del, XM_017018166.2:c.699dup, XM_017018166.1:c.699del, XM_017018166.1:c.699dup, NM_001142674.2:c.699del, NM_001142674.2:c.699dup, NM_001142674.1:c.699del, NM_001142674.1:c.699dup, NM_001142676.2:c.774del, NM_001142676.2:c.774dup, NM_001142676.1:c.774del, NM_001142676.1:c.774dup, NM_001142675.2:c.699del, NM_001142675.2:c.699dup, NM_001142675.1:c.699del, NM_001142675.1:c.699dup, XM_024448663.2:c.699del, XM_024448663.2:c.699dup, XM_024448663.1:c.699del, XM_024448663.1:c.699dup, XM_047427481.1:c.699del, XM_047427481.1:c.699dup, XM_047427480.1:c.699del, XM_047427480.1:c.699dup, XM_047427479.1:c.699del, XM_047427479.1:c.699dup, XM_047427483.1:c.699del, XM_047427483.1:c.699dup, NP_076436.3:p.Thr235fs, NP_076436.3:p.Gly234fs, XP_011518604.1:p.Thr320fs, XP_011518604.1:p.Gly319fs, XP_011518603.1:p.Thr320fs, XP_011518603.1:p.Gly319fs, XP_011518601.1:p.Thr320fs, XP_011518601.1:p.Gly319fs, XP_016873656.1:p.Thr235fs, XP_016873656.1:p.Gly234fs, XP_016873655.1:p.Thr235fs, XP_016873655.1:p.Gly234fs, NP_001136146.1:p.Thr235fs, NP_001136146.1:p.Gly234fs, NP_001136148.1:p.Thr260fs, NP_001136148.1:p.Gly259fs, NP_001136147.1:p.Thr235fs, NP_001136147.1:p.Gly234fs, XP_024304431.1:p.Thr235fs, XP_024304431.1:p.Gly234fs, XP_047283437.1:p.Thr235fs, XP_047283437.1:p.Gly234fs, XP_047283436.1:p.Thr235fs, XP_047283436.1:p.Gly234fs, XP_047283435.1:p.Thr235fs, XP_047283435.1:p.Gly234fs, XP_047283439.1:p.Thr235fs, XP_047283439.1:p.Gly234fs

                                    18.

                                    rs1447629600 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      11:893480 (GRCh38)
                                      11:893480 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:893479:C:T
                                      Gene:
                                      CHID1 (Varview)
                                      Functional Consequence:
                                      intron_variant,synonymous_variant,coding_sequence_variant
                                      HGVS:

                                      19.

                                      rs1445954455 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        11:900973 (GRCh38)
                                        11:900973 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:900972:C:T
                                        Gene:
                                        CHID1 (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_000011.10:g.900973C>T, NC_000011.9:g.900973C>T, NM_023947.4:c.402G>A, NM_023947.3:c.402G>A, XM_011520302.4:c.657G>A, XM_011520302.3:c.657G>A, XM_011520302.2:c.657G>A, XM_011520302.1:c.657G>A, XM_011520301.4:c.657G>A, XM_011520301.3:c.657G>A, XM_011520301.2:c.657G>A, XM_011520301.1:c.657G>A, XM_011520299.3:c.657G>A, XM_011520299.2:c.657G>A, XM_011520299.1:c.657G>A, XM_011520300.3:c.657G>A, XM_011520300.2:c.657G>A, XM_011520300.1:c.657G>A, XM_017018167.3:c.402G>A, XM_017018167.2:c.402G>A, XM_017018167.1:c.402G>A, XM_017018166.2:c.402G>A, XM_017018166.1:c.402G>A, NM_001142674.2:c.402G>A, NM_001142674.1:c.402G>A, NM_001142676.2:c.477G>A, NM_001142676.1:c.477G>A, NM_001142675.2:c.402G>A, NM_001142675.1:c.402G>A, NM_001142677.2:c.402G>A, NM_001142677.1:c.402G>A, XM_024448663.2:c.402G>A, XM_024448663.1:c.402G>A, XM_047427481.1:c.402G>A, XM_047427480.1:c.402G>A, XM_047427479.1:c.402G>A, XM_047427484.1:c.402G>A, XM_047427482.1:c.657G>A, XM_047427483.1:c.402G>A, XM_047427486.1:c.402G>A, XM_047427485.1:c.402G>A, NP_076436.3:p.Met134Ile, XP_011518604.1:p.Met219Ile, XP_011518603.1:p.Met219Ile, XP_011518601.1:p.Met219Ile, XP_011518602.1:p.Met219Ile, XP_016873656.1:p.Met134Ile, XP_016873655.1:p.Met134Ile, NP_001136146.1:p.Met134Ile, NP_001136148.1:p.Met159Ile, NP_001136147.1:p.Met134Ile, NP_001136149.1:p.Met134Ile, XP_024304431.1:p.Met134Ile, XP_047283437.1:p.Met134Ile, XP_047283436.1:p.Met134Ile, XP_047283435.1:p.Met134Ile, XP_047283440.1:p.Met134Ile, XP_047283438.1:p.Met219Ile, XP_047283439.1:p.Met134Ile, XP_047283442.1:p.Met134Ile, XP_047283441.1:p.Met134Ile

                                        20.

                                        rs1441968015 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          11:900006 (GRCh38)
                                          11:900006 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:900005:T:G
                                          Gene:
                                          CHID1 (Varview)
                                          Functional Consequence:
                                          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)
                                          HGVS:
                                          NC_000011.10:g.900006T>G, NC_000011.9:g.900006T>G, NM_023947.4:c.544A>C, NM_023947.3:c.544A>C, XM_011520302.4:c.799A>C, XM_011520302.3:c.799A>C, XM_011520302.2:c.799A>C, XM_011520302.1:c.799A>C, XM_011520301.4:c.799A>C, XM_011520301.3:c.799A>C, XM_011520301.2:c.799A>C, XM_011520301.1:c.799A>C, XM_011520299.3:c.799A>C, XM_011520299.2:c.799A>C, XM_011520299.1:c.799A>C, XM_011520300.3:c.799A>C, XM_011520300.2:c.799A>C, XM_011520300.1:c.799A>C, XM_017018167.3:c.544A>C, XM_017018167.2:c.544A>C, XM_017018167.1:c.544A>C, XM_017018166.2:c.544A>C, XM_017018166.1:c.544A>C, NM_001142674.2:c.544A>C, NM_001142674.1:c.544A>C, NM_001142676.2:c.619A>C, NM_001142676.1:c.619A>C, NM_001142675.2:c.544A>C, NM_001142675.1:c.544A>C, NM_001142677.2:c.544A>C, NM_001142677.1:c.544A>C, XM_024448663.2:c.544A>C, XM_024448663.1:c.544A>C, XM_047427481.1:c.544A>C, XM_047427480.1:c.544A>C, XM_047427479.1:c.544A>C, XM_047427484.1:c.544A>C, XM_047427482.1:c.799A>C, XM_047427483.1:c.544A>C, XM_047427486.1:c.544A>C, XM_047427485.1:c.544A>C, NP_076436.3:p.Lys182Gln, XP_011518604.1:p.Lys267Gln, XP_011518603.1:p.Lys267Gln, XP_011518601.1:p.Lys267Gln, XP_011518602.1:p.Lys267Gln, XP_016873656.1:p.Lys182Gln, XP_016873655.1:p.Lys182Gln, NP_001136146.1:p.Lys182Gln, NP_001136148.1:p.Lys207Gln, NP_001136147.1:p.Lys182Gln, NP_001136149.1:p.Lys182Gln, XP_024304431.1:p.Lys182Gln, XP_047283437.1:p.Lys182Gln, XP_047283436.1:p.Lys182Gln, XP_047283435.1:p.Lys182Gln, XP_047283440.1:p.Lys182Gln, XP_047283438.1:p.Lys267Gln, XP_047283439.1:p.Lys182Gln, XP_047283442.1:p.Lys182Gln, XP_047283441.1:p.Lys182Gln

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