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Items: 1 to 20 of 1458

1.

rs1489741768 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    9:114168414 (GRCh38)
    9:116930694 (GRCh37)
    Canonical SPDI:
    NC_000009.12:114168413:G:A,NC_000009.12:114168413:G:T
    Gene:
    COL27A1 (Varview)
    Functional Consequence:
    missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,stop_gained
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000007/1 (GnomAD)
    A=0.000008/2 (GnomAD_exomes)
    T=0.000343/1 (KOREAN)
    HGVS:
    NC_000009.12:g.114168414G>A, NC_000009.12:g.114168414G>T, NC_000009.11:g.116930694G>A, NC_000009.11:g.116930694G>T, NG_034260.1:g.17870G>A, NG_034260.1:g.17870G>T, NM_032888.4:c.859G>A, NM_032888.4:c.859G>T, NM_032888.3:c.859G>A, NM_032888.3:c.859G>T, NM_032888.2:c.859G>A, NM_032888.2:c.859G>T, XR_929860.4:n.1273G>A, XR_929860.4:n.1273G>T, XR_929860.3:n.1336G>A, XR_929860.3:n.1336G>T, XR_929860.2:n.1335G>A, XR_929860.2:n.1335G>T, XR_929860.1:n.1335G>A, XR_929860.1:n.1335G>T, XM_011519142.4:c.859G>A, XM_011519142.4:c.859G>T, XM_011519142.3:c.859G>A, XM_011519142.3:c.859G>T, XM_011519142.2:c.859G>A, XM_011519142.2:c.859G>T, XM_011519142.1:c.859G>A, XM_011519142.1:c.859G>T, XM_006717308.3:c.859G>A, XM_006717308.3:c.859G>T, XM_006717308.2:c.859G>A, XM_006717308.2:c.859G>T, XM_006717308.1:c.859G>A, XM_006717308.1:c.859G>T, XM_011519138.3:c.853G>A, XM_011519138.3:c.853G>T, XM_011519138.2:c.853G>A, XM_011519138.2:c.853G>T, XM_011519138.1:c.853G>A, XM_011519138.1:c.853G>T, XM_011519143.3:c.859G>A, XM_011519143.3:c.859G>T, XM_011519143.2:c.859G>A, XM_011519143.2:c.859G>T, XM_011519143.1:c.859G>A, XM_011519143.1:c.859G>T, XM_011519144.3:c.859G>A, XM_011519144.3:c.859G>T, XM_011519144.2:c.859G>A, XM_011519144.2:c.859G>T, XM_011519144.1:c.859G>A, XM_011519144.1:c.859G>T, XM_011519140.2:c.859G>A, XM_011519140.2:c.859G>T, XM_011519140.1:c.859G>A, XM_011519140.1:c.859G>T, XM_017015239.2:c.859G>A, XM_017015239.2:c.859G>T, XM_017015239.1:c.859G>A, XM_017015239.1:c.859G>T, XM_047423992.1:c.853G>A, XM_047423992.1:c.853G>T, XM_047423993.1:c.859G>A, XM_047423993.1:c.859G>T, XM_047423994.1:c.859G>A, XM_047423994.1:c.859G>T, XM_047423995.1:c.859G>A, XM_047423995.1:c.859G>T, NP_116277.2:p.Gly287Arg, NP_116277.2:p.Gly287Ter, XP_011517444.1:p.Gly287Arg, XP_011517444.1:p.Gly287Ter, XP_006717371.1:p.Gly287Arg, XP_006717371.1:p.Gly287Ter, XP_011517440.1:p.Gly285Arg, XP_011517440.1:p.Gly285Ter, XP_011517445.1:p.Gly287Arg, XP_011517445.1:p.Gly287Ter, XP_011517446.1:p.Gly287Arg, XP_011517446.1:p.Gly287Ter, XP_011517442.1:p.Gly287Arg, XP_011517442.1:p.Gly287Ter, XP_016870728.1:p.Gly287Arg, XP_016870728.1:p.Gly287Ter, XP_047279948.1:p.Gly285Arg, XP_047279948.1:p.Gly285Ter, XP_047279949.1:p.Gly287Arg, XP_047279949.1:p.Gly287Ter, XP_047279950.1:p.Gly287Arg, XP_047279950.1:p.Gly287Ter, XP_047279951.1:p.Gly287Arg, XP_047279951.1:p.Gly287Ter

    2.

    rs1488869404 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      9:114168646 (GRCh38)
      9:116930926 (GRCh37)
      Canonical SPDI:
      NC_000009.12:114168645:T:C
      Gene:
      COL27A1 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000009.12:g.114168646T>C, NC_000009.11:g.116930926T>C, NG_034260.1:g.18102T>C, NM_032888.4:c.1091T>C, NM_032888.3:c.1091T>C, NM_032888.2:c.1091T>C, XR_929860.4:n.1505T>C, XR_929860.3:n.1568T>C, XR_929860.2:n.1567T>C, XR_929860.1:n.1567T>C, XM_011519142.4:c.1091T>C, XM_011519142.3:c.1091T>C, XM_011519142.2:c.1091T>C, XM_011519142.1:c.1091T>C, XM_006717308.3:c.1091T>C, XM_006717308.2:c.1091T>C, XM_006717308.1:c.1091T>C, XM_011519138.3:c.1085T>C, XM_011519138.2:c.1085T>C, XM_011519138.1:c.1085T>C, XM_011519143.3:c.1091T>C, XM_011519143.2:c.1091T>C, XM_011519143.1:c.1091T>C, XM_011519144.3:c.1091T>C, XM_011519144.2:c.1091T>C, XM_011519144.1:c.1091T>C, XM_011519140.2:c.1091T>C, XM_011519140.1:c.1091T>C, XM_017015239.2:c.1091T>C, XM_017015239.1:c.1091T>C, XM_047423992.1:c.1085T>C, XM_047423993.1:c.1091T>C, XM_047423994.1:c.1091T>C, XM_047423995.1:c.1091T>C, NP_116277.2:p.Ile364Thr, XP_011517444.1:p.Ile364Thr, XP_006717371.1:p.Ile364Thr, XP_011517440.1:p.Ile362Thr, XP_011517445.1:p.Ile364Thr, XP_011517446.1:p.Ile364Thr, XP_011517442.1:p.Ile364Thr, XP_016870728.1:p.Ile364Thr, XP_047279948.1:p.Ile362Thr, XP_047279949.1:p.Ile364Thr, XP_047279950.1:p.Ile364Thr, XP_047279951.1:p.Ile364Thr

      3.

      rs1488690427 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        9:114168689 (GRCh38)
        9:116930969 (GRCh37)
        Canonical SPDI:
        NC_000009.12:114168688:A:G
        Gene:
        COL27A1 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
        Validated:
        by frequency,by cluster
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000009.12:g.114168689A>G, NC_000009.11:g.116930969A>G, NG_034260.1:g.18145A>G, NM_032888.4:c.1134A>G, NM_032888.3:c.1134A>G, NM_032888.2:c.1134A>G, XR_929860.4:n.1548A>G, XR_929860.3:n.1611A>G, XR_929860.2:n.1610A>G, XR_929860.1:n.1610A>G, XM_011519142.4:c.1134A>G, XM_011519142.3:c.1134A>G, XM_011519142.2:c.1134A>G, XM_011519142.1:c.1134A>G, XM_006717308.3:c.1134A>G, XM_006717308.2:c.1134A>G, XM_006717308.1:c.1134A>G, XM_011519138.3:c.1128A>G, XM_011519138.2:c.1128A>G, XM_011519138.1:c.1128A>G, XM_011519143.3:c.1134A>G, XM_011519143.2:c.1134A>G, XM_011519143.1:c.1134A>G, XM_011519144.3:c.1134A>G, XM_011519144.2:c.1134A>G, XM_011519144.1:c.1134A>G, XM_011519140.2:c.1134A>G, XM_011519140.1:c.1134A>G, XM_017015239.2:c.1134A>G, XM_017015239.1:c.1134A>G, XM_047423992.1:c.1128A>G, XM_047423993.1:c.1134A>G, XM_047423994.1:c.1134A>G, XM_047423995.1:c.1134A>G

        4.

        rs1488586440 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          9:114205771 (GRCh38)
          9:116968051 (GRCh37)
          Canonical SPDI:
          NC_000009.12:114205770:C:T
          Gene:
          COL27A1 (Varview)
          Functional Consequence:
          missense_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000009.12:g.114205771C>T, NC_000009.11:g.116968051C>T, NG_034260.1:g.55227C>T, NM_032888.4:c.2182C>T, NM_032888.3:c.2182C>T, NM_032888.2:c.2182C>T, XR_929860.4:n.2596C>T, XR_929860.3:n.2659C>T, XR_929860.2:n.2658C>T, XR_929860.1:n.2658C>T, XM_011519142.4:c.2182C>T, XM_011519142.3:c.2182C>T, XM_011519142.2:c.2182C>T, XM_011519142.1:c.2182C>T, XM_006717308.3:c.2128C>T, XM_006717308.2:c.2128C>T, XM_006717308.1:c.2128C>T, XM_011519138.3:c.2176C>T, XM_011519138.2:c.2176C>T, XM_011519138.1:c.2176C>T, XM_011519143.3:c.2182C>T, XM_011519143.2:c.2182C>T, XM_011519143.1:c.2182C>T, XM_011519144.3:c.2182C>T, XM_011519144.2:c.2182C>T, XM_011519144.1:c.2182C>T, XM_011519140.2:c.2182C>T, XM_011519140.1:c.2182C>T, XM_017015239.2:c.2182C>T, XM_017015239.1:c.2182C>T, XM_047423992.1:c.2122C>T, XM_047423993.1:c.2182C>T, XM_047423994.1:c.2182C>T, XM_047423995.1:c.2182C>T, NP_116277.2:p.Pro728Ser, XP_011517444.1:p.Pro728Ser, XP_006717371.1:p.Pro710Ser, XP_011517440.1:p.Pro726Ser, XP_011517445.1:p.Pro728Ser, XP_011517446.1:p.Pro728Ser, XP_011517442.1:p.Pro728Ser, XP_016870728.1:p.Pro728Ser, XP_047279948.1:p.Pro708Ser, XP_047279949.1:p.Pro728Ser, XP_047279950.1:p.Pro728Ser, XP_047279951.1:p.Pro728Ser

          5.

          rs1486756602 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            9:114267514 (GRCh38)
            9:117029794 (GRCh37)
            Canonical SPDI:
            NC_000009.12:114267513:G:A,NC_000009.12:114267513:G:T
            Gene:
            COL27A1 (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            A=0.000004/1 (TOPMED)
            HGVS:
            NC_000009.12:g.114267514G>A, NC_000009.12:g.114267514G>T, NC_000009.11:g.117029794G>A, NC_000009.11:g.117029794G>T, NG_034260.1:g.116970G>A, NG_034260.1:g.116970G>T, NM_032888.4:c.3458G>A, NM_032888.4:c.3458G>T, NM_032888.3:c.3458G>A, NM_032888.3:c.3458G>T, NM_032888.2:c.3458G>A, NM_032888.2:c.3458G>T, XR_929860.4:n.3872G>A, XR_929860.4:n.3872G>T, XR_929860.3:n.3935G>A, XR_929860.3:n.3935G>T, XR_929860.2:n.3934G>A, XR_929860.2:n.3934G>T, XR_929860.1:n.3934G>A, XR_929860.1:n.3934G>T, XM_006717310.4:c.1139G>A, XM_006717310.4:c.1139G>T, XM_006717310.3:c.1139G>A, XM_006717310.3:c.1139G>T, XM_006717310.2:c.1139G>A, XM_006717310.2:c.1139G>T, XM_006717310.1:c.1139G>A, XM_006717310.1:c.1139G>T, XM_011519145.4:c.1025G>A, XM_011519145.4:c.1025G>T, XM_011519145.3:c.1025G>A, XM_011519145.3:c.1025G>T, XM_011519145.2:c.1025G>A, XM_011519145.2:c.1025G>T, XM_011519145.1:c.1025G>A, XM_011519145.1:c.1025G>T, XM_011519142.4:c.3458G>A, XM_011519142.4:c.3458G>T, XM_011519142.3:c.3458G>A, XM_011519142.3:c.3458G>T, XM_011519142.2:c.3458G>A, XM_011519142.2:c.3458G>T, XM_011519142.1:c.3458G>A, XM_011519142.1:c.3458G>T, XM_006717308.3:c.3404G>A, XM_006717308.3:c.3404G>T, XM_006717308.2:c.3404G>A, XM_006717308.2:c.3404G>T, XM_006717308.1:c.3404G>A, XM_006717308.1:c.3404G>T, XM_011519138.3:c.3452G>A, XM_011519138.3:c.3452G>T, XM_011519138.2:c.3452G>A, XM_011519138.2:c.3452G>T, XM_011519138.1:c.3452G>A, XM_011519138.1:c.3452G>T, XM_011519143.3:c.3458G>A, XM_011519143.3:c.3458G>T, XM_011519143.2:c.3458G>A, XM_011519143.2:c.3458G>T, XM_011519143.1:c.3458G>A, XM_011519143.1:c.3458G>T, XM_011519144.3:c.3458G>A, XM_011519144.3:c.3458G>T, XM_011519144.2:c.3458G>A, XM_011519144.2:c.3458G>T, XM_011519144.1:c.3458G>A, XM_011519144.1:c.3458G>T, XM_011519140.2:c.3404G>A, XM_011519140.2:c.3404G>T, XM_011519140.1:c.3404G>A, XM_011519140.1:c.3404G>T, XM_017015239.2:c.3458G>A, XM_017015239.2:c.3458G>T, XM_017015239.1:c.3458G>A, XM_017015239.1:c.3458G>T, XM_047423992.1:c.3398G>A, XM_047423992.1:c.3398G>T, XM_047423993.1:c.3458G>A, XM_047423993.1:c.3458G>T, NP_116277.2:p.Gly1153Asp, NP_116277.2:p.Gly1153Val, XP_006717373.1:p.Gly380Asp, XP_006717373.1:p.Gly380Val, XP_011517447.1:p.Gly342Asp, XP_011517447.1:p.Gly342Val, XP_011517444.1:p.Gly1153Asp, XP_011517444.1:p.Gly1153Val, XP_006717371.1:p.Gly1135Asp, XP_006717371.1:p.Gly1135Val, XP_011517440.1:p.Gly1151Asp, XP_011517440.1:p.Gly1151Val, XP_011517445.1:p.Gly1153Asp, XP_011517445.1:p.Gly1153Val, XP_011517446.1:p.Gly1153Asp, XP_011517446.1:p.Gly1153Val, XP_011517442.1:p.Gly1135Asp, XP_011517442.1:p.Gly1135Val, XP_016870728.1:p.Gly1153Asp, XP_016870728.1:p.Gly1153Val, XP_047279948.1:p.Gly1133Asp, XP_047279948.1:p.Gly1133Val, XP_047279949.1:p.Gly1153Asp, XP_047279949.1:p.Gly1153Val

            6.

            rs1486695620 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              9:114282326 (GRCh38)
              9:117044606 (GRCh37)
              Canonical SPDI:
              NC_000009.12:114282325:C:A
              Gene:
              COL27A1 (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              A=0.000004/1 (TOPMED)
              HGVS:
              NC_000009.12:g.114282326C>A, NC_000009.11:g.117044606C>A, NG_034260.1:g.131782C>A, NM_032888.4:c.3767C>A, NM_032888.3:c.3767C>A, NM_032888.2:c.3767C>A, XR_929860.4:n.4181C>A, XR_929860.3:n.4244C>A, XR_929860.2:n.4243C>A, XR_929860.1:n.4243C>A, XM_006717310.4:c.1448C>A, XM_006717310.3:c.1448C>A, XM_006717310.2:c.1448C>A, XM_006717310.1:c.1448C>A, XM_011519145.4:c.1334C>A, XM_011519145.3:c.1334C>A, XM_011519145.2:c.1334C>A, XM_011519145.1:c.1334C>A, XM_011519142.4:c.3767C>A, XM_011519142.3:c.3767C>A, XM_011519142.2:c.3767C>A, XM_011519142.1:c.3767C>A, XM_006717308.3:c.3713C>A, XM_006717308.2:c.3713C>A, XM_006717308.1:c.3713C>A, XM_011519138.3:c.3761C>A, XM_011519138.2:c.3761C>A, XM_011519138.1:c.3761C>A, XM_011519143.3:c.3767C>A, XM_011519143.2:c.3767C>A, XM_011519143.1:c.3767C>A, XM_011519144.3:c.3767C>A, XM_011519144.2:c.3767C>A, XM_011519144.1:c.3767C>A, XM_011519140.2:c.3713C>A, XM_011519140.1:c.3713C>A, XM_047423992.1:c.3707C>A, XM_047423993.1:c.3767C>A, NP_116277.2:p.Ala1256Asp, XP_006717373.1:p.Ala483Asp, XP_011517447.1:p.Ala445Asp, XP_011517444.1:p.Ala1256Asp, XP_006717371.1:p.Ala1238Asp, XP_011517440.1:p.Ala1254Asp, XP_011517445.1:p.Ala1256Asp, XP_011517446.1:p.Ala1256Asp, XP_011517442.1:p.Ala1238Asp, XP_047279948.1:p.Ala1236Asp, XP_047279949.1:p.Ala1256Asp

              7.

              rs1484731004 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                9:114167761 (GRCh38)
                9:116930041 (GRCh37)
                Canonical SPDI:
                NC_000009.12:114167760:C:T
                Gene:
                COL27A1 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000224/1 (ALFA)
                T=0.000014/2 (GnomAD)
                T=0.000223/1 (Estonian)
                HGVS:
                NC_000009.12:g.114167761C>T, NC_000009.11:g.116930041C>T, NG_034260.1:g.17217C>T, NM_032888.4:c.206C>T, NM_032888.3:c.206C>T, NM_032888.2:c.206C>T, XR_929860.4:n.620C>T, XR_929860.3:n.683C>T, XR_929860.2:n.682C>T, XR_929860.1:n.682C>T, XM_011519142.4:c.206C>T, XM_011519142.3:c.206C>T, XM_011519142.2:c.206C>T, XM_011519142.1:c.206C>T, XM_006717308.3:c.206C>T, XM_006717308.2:c.206C>T, XM_006717308.1:c.206C>T, XM_011519138.3:c.200C>T, XM_011519138.2:c.200C>T, XM_011519138.1:c.200C>T, XM_011519143.3:c.206C>T, XM_011519143.2:c.206C>T, XM_011519143.1:c.206C>T, XM_011519144.3:c.206C>T, XM_011519144.2:c.206C>T, XM_011519144.1:c.206C>T, XM_011519140.2:c.206C>T, XM_011519140.1:c.206C>T, XM_017015239.2:c.206C>T, XM_017015239.1:c.206C>T, XM_047423992.1:c.200C>T, XM_047423993.1:c.206C>T, XM_047423994.1:c.206C>T, XM_047423995.1:c.206C>T, NP_116277.2:p.Pro69Leu, XP_011517444.1:p.Pro69Leu, XP_006717371.1:p.Pro69Leu, XP_011517440.1:p.Pro67Leu, XP_011517445.1:p.Pro69Leu, XP_011517446.1:p.Pro69Leu, XP_011517442.1:p.Pro69Leu, XP_016870728.1:p.Pro69Leu, XP_047279948.1:p.Pro67Leu, XP_047279949.1:p.Pro69Leu, XP_047279950.1:p.Pro69Leu, XP_047279951.1:p.Pro69Leu

                8.

                rs1484138524 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AG>- [Show Flanks]
                  Chromosome:
                  9:114219817 (GRCh38)
                  9:116982097 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:114219814:AGAG:AG
                  Gene:
                  COL27A1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,frameshift_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AGAG=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000009.12:g.114219815AG[1], NC_000009.11:g.116982095AG[1], NG_034260.1:g.69271AG[1], NM_032888.4:c.2394_2395del, NM_032888.3:c.2394_2395del, NM_032888.2:c.2394_2395del, XR_929860.4:n.2806AG[1], XR_929860.3:n.2869AG[1], XR_929860.2:n.2868AG[1], XR_929860.1:n.2868AG[1], XM_006717310.4:c.75_76del, XM_006717310.3:c.75_76del, XM_006717310.2:c.75_76del, XM_006717310.1:c.75_76del, XM_011519142.4:c.2394_2395del, XM_011519142.3:c.2394_2395del, XM_011519142.2:c.2394_2395del, XM_011519142.1:c.2394_2395del, XM_006717308.3:c.2340_2341del, XM_006717308.2:c.2340_2341del, XM_006717308.1:c.2340_2341del, XM_011519138.3:c.2388_2389del, XM_011519138.2:c.2388_2389del, XM_011519138.1:c.2388_2389del, XM_011519143.3:c.2394_2395del, XM_011519143.2:c.2394_2395del, XM_011519143.1:c.2394_2395del, XM_011519144.3:c.2394_2395del, XM_011519144.2:c.2394_2395del, XM_011519144.1:c.2394_2395del, XM_011519140.2:c.2394_2395del, XM_011519140.1:c.2394_2395del, XM_017015239.2:c.2394_2395del, XM_017015239.1:c.2394_2395del, XM_047423992.1:c.2334_2335del, XM_047423993.1:c.2394_2395del, XM_047423994.1:c.2394_2395del, XM_047423995.1:c.2394_2395del, NP_116277.2:p.Gly799fs, XP_006717373.1:p.Gly26fs, XP_011517444.1:p.Gly799fs, XP_006717371.1:p.Gly781fs, XP_011517440.1:p.Gly797fs, XP_011517445.1:p.Gly799fs, XP_011517446.1:p.Gly799fs, XP_011517442.1:p.Gly799fs, XP_016870728.1:p.Gly799fs, XP_047279948.1:p.Gly779fs, XP_047279949.1:p.Gly799fs, XP_047279950.1:p.Gly799fs, XP_047279951.1:p.Gly799fs

                  9.

                  rs1483741643 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    9:114168550 (GRCh38)
                    9:116930830 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:114168549:C:T
                    Gene:
                    COL27A1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    T=0./0 (KOREAN)
                    T=0.000004/1 (GnomAD_exomes)
                    T=0.000248/4 (TOMMO)
                    T=0.000546/1 (Korea1K)
                    HGVS:
                    NC_000009.12:g.114168550C>T, NC_000009.11:g.116930830C>T, NG_034260.1:g.18006C>T, NM_032888.4:c.995C>T, NM_032888.3:c.995C>T, NM_032888.2:c.995C>T, XR_929860.4:n.1409C>T, XR_929860.3:n.1472C>T, XR_929860.2:n.1471C>T, XR_929860.1:n.1471C>T, XM_011519142.4:c.995C>T, XM_011519142.3:c.995C>T, XM_011519142.2:c.995C>T, XM_011519142.1:c.995C>T, XM_006717308.3:c.995C>T, XM_006717308.2:c.995C>T, XM_006717308.1:c.995C>T, XM_011519138.3:c.989C>T, XM_011519138.2:c.989C>T, XM_011519138.1:c.989C>T, XM_011519143.3:c.995C>T, XM_011519143.2:c.995C>T, XM_011519143.1:c.995C>T, XM_011519144.3:c.995C>T, XM_011519144.2:c.995C>T, XM_011519144.1:c.995C>T, XM_011519140.2:c.995C>T, XM_011519140.1:c.995C>T, XM_017015239.2:c.995C>T, XM_017015239.1:c.995C>T, XM_047423992.1:c.989C>T, XM_047423993.1:c.995C>T, XM_047423994.1:c.995C>T, XM_047423995.1:c.995C>T, NP_116277.2:p.Ala332Val, XP_011517444.1:p.Ala332Val, XP_006717371.1:p.Ala332Val, XP_011517440.1:p.Ala330Val, XP_011517445.1:p.Ala332Val, XP_011517446.1:p.Ala332Val, XP_011517442.1:p.Ala332Val, XP_016870728.1:p.Ala332Val, XP_047279948.1:p.Ala330Val, XP_047279949.1:p.Ala332Val, XP_047279950.1:p.Ala332Val, XP_047279951.1:p.Ala332Val

                    10.

                    rs1482449735 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      9:114168875 (GRCh38)
                      9:116931155 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:114168874:C:T
                      Gene:
                      COL27A1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0.000111/1 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000009.12:g.114168875C>T, NC_000009.11:g.116931155C>T, NG_034260.1:g.18331C>T, NM_032888.4:c.1320C>T, NM_032888.3:c.1320C>T, NM_032888.2:c.1320C>T, XR_929860.4:n.1734C>T, XR_929860.3:n.1797C>T, XR_929860.2:n.1796C>T, XR_929860.1:n.1796C>T, XM_011519142.4:c.1320C>T, XM_011519142.3:c.1320C>T, XM_011519142.2:c.1320C>T, XM_011519142.1:c.1320C>T, XM_006717308.3:c.1320C>T, XM_006717308.2:c.1320C>T, XM_006717308.1:c.1320C>T, XM_011519138.3:c.1314C>T, XM_011519138.2:c.1314C>T, XM_011519138.1:c.1314C>T, XM_011519143.3:c.1320C>T, XM_011519143.2:c.1320C>T, XM_011519143.1:c.1320C>T, XM_011519144.3:c.1320C>T, XM_011519144.2:c.1320C>T, XM_011519144.1:c.1320C>T, XM_011519140.2:c.1320C>T, XM_011519140.1:c.1320C>T, XM_017015239.2:c.1320C>T, XM_017015239.1:c.1320C>T, XM_047423992.1:c.1314C>T, XM_047423993.1:c.1320C>T, XM_047423994.1:c.1320C>T, XM_047423995.1:c.1320C>T

                      11.

                      rs1481916612 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        9:114240446 (GRCh38)
                        9:117002726 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:114240445:G:A,NC_000009.12:114240445:G:T
                        Gene:
                        COL27A1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000008/2 (TOPMED)
                        G=0.5/1 (SGDP_PRJ)
                        HGVS:
                        NC_000009.12:g.114240446G>A, NC_000009.12:g.114240446G>T, NC_000009.11:g.117002726G>A, NC_000009.11:g.117002726G>T, NG_034260.1:g.89902G>A, NG_034260.1:g.89902G>T, NM_032888.4:c.2794G>A, NM_032888.4:c.2794G>T, NM_032888.3:c.2794G>A, NM_032888.3:c.2794G>T, NM_032888.2:c.2794G>A, NM_032888.2:c.2794G>T, XR_929860.4:n.3208G>A, XR_929860.4:n.3208G>T, XR_929860.3:n.3271G>A, XR_929860.3:n.3271G>T, XR_929860.2:n.3270G>A, XR_929860.2:n.3270G>T, XR_929860.1:n.3270G>A, XR_929860.1:n.3270G>T, XM_006717310.4:c.475G>A, XM_006717310.4:c.475G>T, XM_006717310.3:c.475G>A, XM_006717310.3:c.475G>T, XM_006717310.2:c.475G>A, XM_006717310.2:c.475G>T, XM_006717310.1:c.475G>A, XM_006717310.1:c.475G>T, XM_011519145.4:c.361G>A, XM_011519145.4:c.361G>T, XM_011519145.3:c.361G>A, XM_011519145.3:c.361G>T, XM_011519145.2:c.361G>A, XM_011519145.2:c.361G>T, XM_011519145.1:c.361G>A, XM_011519145.1:c.361G>T, XM_011519142.4:c.2794G>A, XM_011519142.4:c.2794G>T, XM_011519142.3:c.2794G>A, XM_011519142.3:c.2794G>T, XM_011519142.2:c.2794G>A, XM_011519142.2:c.2794G>T, XM_011519142.1:c.2794G>A, XM_011519142.1:c.2794G>T, XM_006717308.3:c.2740G>A, XM_006717308.3:c.2740G>T, XM_006717308.2:c.2740G>A, XM_006717308.2:c.2740G>T, XM_006717308.1:c.2740G>A, XM_006717308.1:c.2740G>T, XM_011519138.3:c.2788G>A, XM_011519138.3:c.2788G>T, XM_011519138.2:c.2788G>A, XM_011519138.2:c.2788G>T, XM_011519138.1:c.2788G>A, XM_011519138.1:c.2788G>T, XM_011519143.3:c.2794G>A, XM_011519143.3:c.2794G>T, XM_011519143.2:c.2794G>A, XM_011519143.2:c.2794G>T, XM_011519143.1:c.2794G>A, XM_011519143.1:c.2794G>T, XM_011519144.3:c.2794G>A, XM_011519144.3:c.2794G>T, XM_011519144.2:c.2794G>A, XM_011519144.2:c.2794G>T, XM_011519144.1:c.2794G>A, XM_011519144.1:c.2794G>T, XM_011519140.2:c.2794G>A, XM_011519140.2:c.2794G>T, XM_011519140.1:c.2794G>A, XM_011519140.1:c.2794G>T, XM_017015239.2:c.2794G>A, XM_017015239.2:c.2794G>T, XM_017015239.1:c.2794G>A, XM_017015239.1:c.2794G>T, XM_047423992.1:c.2734G>A, XM_047423992.1:c.2734G>T, XM_047423993.1:c.2794G>A, XM_047423993.1:c.2794G>T, XM_047423994.1:c.2794G>A, XM_047423994.1:c.2794G>T, XM_047423995.1:c.2794G>A, XM_047423995.1:c.2794G>T, NP_116277.2:p.Ala932Thr, NP_116277.2:p.Ala932Ser, XP_006717373.1:p.Ala159Thr, XP_006717373.1:p.Ala159Ser, XP_011517447.1:p.Ala121Thr, XP_011517447.1:p.Ala121Ser, XP_011517444.1:p.Ala932Thr, XP_011517444.1:p.Ala932Ser, XP_006717371.1:p.Ala914Thr, XP_006717371.1:p.Ala914Ser, XP_011517440.1:p.Ala930Thr, XP_011517440.1:p.Ala930Ser, XP_011517445.1:p.Ala932Thr, XP_011517445.1:p.Ala932Ser, XP_011517446.1:p.Ala932Thr, XP_011517446.1:p.Ala932Ser, XP_011517442.1:p.Ala932Thr, XP_011517442.1:p.Ala932Ser, XP_016870728.1:p.Ala932Thr, XP_016870728.1:p.Ala932Ser, XP_047279948.1:p.Ala912Thr, XP_047279948.1:p.Ala912Ser, XP_047279949.1:p.Ala932Thr, XP_047279949.1:p.Ala932Ser, XP_047279950.1:p.Ala932Thr, XP_047279950.1:p.Ala932Ser, XP_047279951.1:p.Ala932Thr, XP_047279951.1:p.Ala932Ser

                        12.

                        rs1481890557 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          9:114275677 (GRCh38)
                          9:117037957 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:114275676:C:T
                          Gene:
                          COL27A1 (Varview)
                          Functional Consequence:
                          missense_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000006/1 (GnomAD_exomes)
                          T=0.000008/2 (TOPMED)
                          T=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000009.12:g.114275677C>T, NC_000009.11:g.117037957C>T, NG_034260.1:g.125133C>T, NM_032888.4:c.3626C>T, NM_032888.3:c.3626C>T, NM_032888.2:c.3626C>T, XR_929860.4:n.4040C>T, XR_929860.3:n.4103C>T, XR_929860.2:n.4102C>T, XR_929860.1:n.4102C>T, XM_006717310.4:c.1307C>T, XM_006717310.3:c.1307C>T, XM_006717310.2:c.1307C>T, XM_006717310.1:c.1307C>T, XM_011519145.4:c.1193C>T, XM_011519145.3:c.1193C>T, XM_011519145.2:c.1193C>T, XM_011519145.1:c.1193C>T, XM_011519142.4:c.3626C>T, XM_011519142.3:c.3626C>T, XM_011519142.2:c.3626C>T, XM_011519142.1:c.3626C>T, XM_006717308.3:c.3572C>T, XM_006717308.2:c.3572C>T, XM_006717308.1:c.3572C>T, XM_011519138.3:c.3620C>T, XM_011519138.2:c.3620C>T, XM_011519138.1:c.3620C>T, XM_011519143.3:c.3626C>T, XM_011519143.2:c.3626C>T, XM_011519143.1:c.3626C>T, XM_011519144.3:c.3626C>T, XM_011519144.2:c.3626C>T, XM_011519144.1:c.3626C>T, XM_011519140.2:c.3572C>T, XM_011519140.1:c.3572C>T, XM_017015239.2:c.*19C>T, XM_017015239.1:c.*19C>T, XM_047423992.1:c.3566C>T, XM_047423993.1:c.3626C>T, NP_116277.2:p.Pro1209Leu, XP_006717373.1:p.Pro436Leu, XP_011517447.1:p.Pro398Leu, XP_011517444.1:p.Pro1209Leu, XP_006717371.1:p.Pro1191Leu, XP_011517440.1:p.Pro1207Leu, XP_011517445.1:p.Pro1209Leu, XP_011517446.1:p.Pro1209Leu, XP_011517442.1:p.Pro1191Leu, XP_047279948.1:p.Pro1189Leu, XP_047279949.1:p.Pro1209Leu

                          13.

                          rs1481776317 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            9:114167994 (GRCh38)
                            9:116930274 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:114167993:T:A
                            Gene:
                            COL27A1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
                            HGVS:
                            NC_000009.12:g.114167994T>A, NC_000009.11:g.116930274T>A, NG_034260.1:g.17450T>A, NM_032888.4:c.439T>A, NM_032888.3:c.439T>A, NM_032888.2:c.439T>A, XR_929860.4:n.853T>A, XR_929860.3:n.916T>A, XR_929860.2:n.915T>A, XR_929860.1:n.915T>A, XM_011519142.4:c.439T>A, XM_011519142.3:c.439T>A, XM_011519142.2:c.439T>A, XM_011519142.1:c.439T>A, XM_006717308.3:c.439T>A, XM_006717308.2:c.439T>A, XM_006717308.1:c.439T>A, XM_011519138.3:c.433T>A, XM_011519138.2:c.433T>A, XM_011519138.1:c.433T>A, XM_011519143.3:c.439T>A, XM_011519143.2:c.439T>A, XM_011519143.1:c.439T>A, XM_011519144.3:c.439T>A, XM_011519144.2:c.439T>A, XM_011519144.1:c.439T>A, XM_011519140.2:c.439T>A, XM_011519140.1:c.439T>A, XM_017015239.2:c.439T>A, XM_017015239.1:c.439T>A, XM_047423992.1:c.433T>A, XM_047423993.1:c.439T>A, XM_047423994.1:c.439T>A, XM_047423995.1:c.439T>A, NP_116277.2:p.Phe147Ile, XP_011517444.1:p.Phe147Ile, XP_006717371.1:p.Phe147Ile, XP_011517440.1:p.Phe145Ile, XP_011517445.1:p.Phe147Ile, XP_011517446.1:p.Phe147Ile, XP_011517442.1:p.Phe147Ile, XP_016870728.1:p.Phe147Ile, XP_047279948.1:p.Phe145Ile, XP_047279949.1:p.Phe147Ile, XP_047279950.1:p.Phe147Ile, XP_047279951.1:p.Phe147Ile

                            14.

                            rs1481273116 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              9:114156002 (GRCh38)
                              9:116918282 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:114156001:G:C
                              Gene:
                              COL27A1 (Varview), LOC105376225 (Varview)
                              Functional Consequence:
                              intron_variant,missense_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000009.12:g.114156002G>C, NC_000009.11:g.116918282G>C, NG_034260.1:g.5458G>C, NM_032888.4:c.52G>C, NM_032888.3:c.52G>C, NM_032888.2:c.52G>C, XR_929860.4:n.466G>C, XR_929860.3:n.529G>C, XR_929860.2:n.528G>C, XR_929860.1:n.528G>C, XM_011519142.4:c.52G>C, XM_011519142.3:c.52G>C, XM_011519142.2:c.52G>C, XM_011519142.1:c.52G>C, XM_006717308.3:c.52G>C, XM_006717308.2:c.52G>C, XM_006717308.1:c.52G>C, XM_011519143.3:c.52G>C, XM_011519143.2:c.52G>C, XM_011519143.1:c.52G>C, XM_011519144.3:c.52G>C, XM_011519144.2:c.52G>C, XM_011519144.1:c.52G>C, XM_011519140.2:c.52G>C, XM_011519140.1:c.52G>C, XM_017015239.2:c.52G>C, XM_017015239.1:c.52G>C, XM_047423993.1:c.52G>C, XM_047423994.1:c.52G>C, XM_047423995.1:c.52G>C, NP_116277.2:p.Ala18Pro, XP_011517444.1:p.Ala18Pro, XP_006717371.1:p.Ala18Pro, XP_011517445.1:p.Ala18Pro, XP_011517446.1:p.Ala18Pro, XP_011517442.1:p.Ala18Pro, XP_016870728.1:p.Ala18Pro, XP_047279949.1:p.Ala18Pro, XP_047279950.1:p.Ala18Pro, XP_047279951.1:p.Ala18Pro

                              15.

                              rs1480711825 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                9:114162761 (GRCh38)
                                9:116925041 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:114162760:G:A
                                Gene:
                                COL27A1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000009.12:g.114162761G>A, NC_000009.11:g.116925041G>A, NG_034260.1:g.12217G>A, NM_032888.4:c.109G>A, NM_032888.3:c.109G>A, NM_032888.2:c.109G>A, XR_929860.4:n.523G>A, XR_929860.3:n.586G>A, XR_929860.2:n.585G>A, XR_929860.1:n.585G>A, XM_011519142.4:c.109G>A, XM_011519142.3:c.109G>A, XM_011519142.2:c.109G>A, XM_011519142.1:c.109G>A, XM_006717308.3:c.109G>A, XM_006717308.2:c.109G>A, XM_006717308.1:c.109G>A, XM_011519138.3:c.103G>A, XM_011519138.2:c.103G>A, XM_011519138.1:c.103G>A, XM_011519143.3:c.109G>A, XM_011519143.2:c.109G>A, XM_011519143.1:c.109G>A, XM_011519144.3:c.109G>A, XM_011519144.2:c.109G>A, XM_011519144.1:c.109G>A, XM_011519140.2:c.109G>A, XM_011519140.1:c.109G>A, XM_017015239.2:c.109G>A, XM_017015239.1:c.109G>A, XM_047423992.1:c.103G>A, XM_047423993.1:c.109G>A, XM_047423994.1:c.109G>A, XM_047423995.1:c.109G>A, NP_116277.2:p.Ala37Thr, XP_011517444.1:p.Ala37Thr, XP_006717371.1:p.Ala37Thr, XP_011517440.1:p.Ala35Thr, XP_011517445.1:p.Ala37Thr, XP_011517446.1:p.Ala37Thr, XP_011517442.1:p.Ala37Thr, XP_016870728.1:p.Ala37Thr, XP_047279948.1:p.Ala35Thr, XP_047279949.1:p.Ala37Thr, XP_047279950.1:p.Ala37Thr, XP_047279951.1:p.Ala37Thr

                                16.

                                rs1480040741 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,G [Show Flanks]
                                  Chromosome:
                                  9:114167998 (GRCh38)
                                  9:116930278 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:114167997:A:C,NC_000009.12:114167997:A:G
                                  Gene:
                                  COL27A1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000051/1 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  C=0.000008/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000009.12:g.114167998A>C, NC_000009.12:g.114167998A>G, NC_000009.11:g.116930278A>C, NC_000009.11:g.116930278A>G, NG_034260.1:g.17454A>C, NG_034260.1:g.17454A>G, NM_032888.4:c.443A>C, NM_032888.4:c.443A>G, NM_032888.3:c.443A>C, NM_032888.3:c.443A>G, NM_032888.2:c.443A>C, NM_032888.2:c.443A>G, XR_929860.4:n.857A>C, XR_929860.4:n.857A>G, XR_929860.3:n.920A>C, XR_929860.3:n.920A>G, XR_929860.2:n.919A>C, XR_929860.2:n.919A>G, XR_929860.1:n.919A>C, XR_929860.1:n.919A>G, XM_011519142.4:c.443A>C, XM_011519142.4:c.443A>G, XM_011519142.3:c.443A>C, XM_011519142.3:c.443A>G, XM_011519142.2:c.443A>C, XM_011519142.2:c.443A>G, XM_011519142.1:c.443A>C, XM_011519142.1:c.443A>G, XM_006717308.3:c.443A>C, XM_006717308.3:c.443A>G, XM_006717308.2:c.443A>C, XM_006717308.2:c.443A>G, XM_006717308.1:c.443A>C, XM_006717308.1:c.443A>G, XM_011519138.3:c.437A>C, XM_011519138.3:c.437A>G, XM_011519138.2:c.437A>C, XM_011519138.2:c.437A>G, XM_011519138.1:c.437A>C, XM_011519138.1:c.437A>G, XM_011519143.3:c.443A>C, XM_011519143.3:c.443A>G, XM_011519143.2:c.443A>C, XM_011519143.2:c.443A>G, XM_011519143.1:c.443A>C, XM_011519143.1:c.443A>G, XM_011519144.3:c.443A>C, XM_011519144.3:c.443A>G, XM_011519144.2:c.443A>C, XM_011519144.2:c.443A>G, XM_011519144.1:c.443A>C, XM_011519144.1:c.443A>G, XM_011519140.2:c.443A>C, XM_011519140.2:c.443A>G, XM_011519140.1:c.443A>C, XM_011519140.1:c.443A>G, XM_017015239.2:c.443A>C, XM_017015239.2:c.443A>G, XM_017015239.1:c.443A>C, XM_017015239.1:c.443A>G, XM_047423992.1:c.437A>C, XM_047423992.1:c.437A>G, XM_047423993.1:c.443A>C, XM_047423993.1:c.443A>G, XM_047423994.1:c.443A>C, XM_047423994.1:c.443A>G, XM_047423995.1:c.443A>C, XM_047423995.1:c.443A>G, NP_116277.2:p.Asp148Ala, NP_116277.2:p.Asp148Gly, XP_011517444.1:p.Asp148Ala, XP_011517444.1:p.Asp148Gly, XP_006717371.1:p.Asp148Ala, XP_006717371.1:p.Asp148Gly, XP_011517440.1:p.Asp146Ala, XP_011517440.1:p.Asp146Gly, XP_011517445.1:p.Asp148Ala, XP_011517445.1:p.Asp148Gly, XP_011517446.1:p.Asp148Ala, XP_011517446.1:p.Asp148Gly, XP_011517442.1:p.Asp148Ala, XP_011517442.1:p.Asp148Gly, XP_016870728.1:p.Asp148Ala, XP_016870728.1:p.Asp148Gly, XP_047279948.1:p.Asp146Ala, XP_047279948.1:p.Asp146Gly, XP_047279949.1:p.Asp148Ala, XP_047279949.1:p.Asp148Gly, XP_047279950.1:p.Asp148Ala, XP_047279950.1:p.Asp148Gly, XP_047279951.1:p.Asp148Ala, XP_047279951.1:p.Asp148Gly

                                  17.

                                  rs1478351814 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    9:114168055 (GRCh38)
                                    9:116930335 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:114168054:C:G,NC_000009.12:114168054:C:T
                                    Gene:
                                    COL27A1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    G=0.000035/1 (TOMMO)
                                    HGVS:
                                    NC_000009.12:g.114168055C>G, NC_000009.12:g.114168055C>T, NC_000009.11:g.116930335C>G, NC_000009.11:g.116930335C>T, NG_034260.1:g.17511C>G, NG_034260.1:g.17511C>T, NM_032888.4:c.500C>G, NM_032888.4:c.500C>T, NM_032888.3:c.500C>G, NM_032888.3:c.500C>T, NM_032888.2:c.500C>G, NM_032888.2:c.500C>T, XR_929860.4:n.914C>G, XR_929860.4:n.914C>T, XR_929860.3:n.977C>G, XR_929860.3:n.977C>T, XR_929860.2:n.976C>G, XR_929860.2:n.976C>T, XR_929860.1:n.976C>G, XR_929860.1:n.976C>T, XM_011519142.4:c.500C>G, XM_011519142.4:c.500C>T, XM_011519142.3:c.500C>G, XM_011519142.3:c.500C>T, XM_011519142.2:c.500C>G, XM_011519142.2:c.500C>T, XM_011519142.1:c.500C>G, XM_011519142.1:c.500C>T, XM_006717308.3:c.500C>G, XM_006717308.3:c.500C>T, XM_006717308.2:c.500C>G, XM_006717308.2:c.500C>T, XM_006717308.1:c.500C>G, XM_006717308.1:c.500C>T, XM_011519138.3:c.494C>G, XM_011519138.3:c.494C>T, XM_011519138.2:c.494C>G, XM_011519138.2:c.494C>T, XM_011519138.1:c.494C>G, XM_011519138.1:c.494C>T, XM_011519143.3:c.500C>G, XM_011519143.3:c.500C>T, XM_011519143.2:c.500C>G, XM_011519143.2:c.500C>T, XM_011519143.1:c.500C>G, XM_011519143.1:c.500C>T, XM_011519144.3:c.500C>G, XM_011519144.3:c.500C>T, XM_011519144.2:c.500C>G, XM_011519144.2:c.500C>T, XM_011519144.1:c.500C>G, XM_011519144.1:c.500C>T, XM_011519140.2:c.500C>G, XM_011519140.2:c.500C>T, XM_011519140.1:c.500C>G, XM_011519140.1:c.500C>T, XM_017015239.2:c.500C>G, XM_017015239.2:c.500C>T, XM_017015239.1:c.500C>G, XM_017015239.1:c.500C>T, XM_047423992.1:c.494C>G, XM_047423992.1:c.494C>T, XM_047423993.1:c.500C>G, XM_047423993.1:c.500C>T, XM_047423994.1:c.500C>G, XM_047423994.1:c.500C>T, XM_047423995.1:c.500C>G, XM_047423995.1:c.500C>T, NP_116277.2:p.Thr167Arg, NP_116277.2:p.Thr167Ile, XP_011517444.1:p.Thr167Arg, XP_011517444.1:p.Thr167Ile, XP_006717371.1:p.Thr167Arg, XP_006717371.1:p.Thr167Ile, XP_011517440.1:p.Thr165Arg, XP_011517440.1:p.Thr165Ile, XP_011517445.1:p.Thr167Arg, XP_011517445.1:p.Thr167Ile, XP_011517446.1:p.Thr167Arg, XP_011517446.1:p.Thr167Ile, XP_011517442.1:p.Thr167Arg, XP_011517442.1:p.Thr167Ile, XP_016870728.1:p.Thr167Arg, XP_016870728.1:p.Thr167Ile, XP_047279948.1:p.Thr165Arg, XP_047279948.1:p.Thr165Ile, XP_047279949.1:p.Thr167Arg, XP_047279949.1:p.Thr167Ile, XP_047279950.1:p.Thr167Arg, XP_047279950.1:p.Thr167Ile, XP_047279951.1:p.Thr167Arg, XP_047279951.1:p.Thr167Ile

                                    18.

                                    rs1477779976 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      9:114168192 (GRCh38)
                                      9:116930472 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:114168191:C:T
                                      Gene:
                                      COL27A1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      T=0.000021/3 (GnomAD)
                                      HGVS:
                                      NC_000009.12:g.114168192C>T, NC_000009.11:g.116930472C>T, NG_034260.1:g.17648C>T, NM_032888.4:c.637C>T, NM_032888.3:c.637C>T, NM_032888.2:c.637C>T, XR_929860.4:n.1051C>T, XR_929860.3:n.1114C>T, XR_929860.2:n.1113C>T, XR_929860.1:n.1113C>T, XM_011519142.4:c.637C>T, XM_011519142.3:c.637C>T, XM_011519142.2:c.637C>T, XM_011519142.1:c.637C>T, XM_006717308.3:c.637C>T, XM_006717308.2:c.637C>T, XM_006717308.1:c.637C>T, XM_011519138.3:c.631C>T, XM_011519138.2:c.631C>T, XM_011519138.1:c.631C>T, XM_011519143.3:c.637C>T, XM_011519143.2:c.637C>T, XM_011519143.1:c.637C>T, XM_011519144.3:c.637C>T, XM_011519144.2:c.637C>T, XM_011519144.1:c.637C>T, XM_011519140.2:c.637C>T, XM_011519140.1:c.637C>T, XM_017015239.2:c.637C>T, XM_017015239.1:c.637C>T, XM_047423992.1:c.631C>T, XM_047423993.1:c.637C>T, XM_047423994.1:c.637C>T, XM_047423995.1:c.637C>T, NP_116277.2:p.Leu213Phe, XP_011517444.1:p.Leu213Phe, XP_006717371.1:p.Leu213Phe, XP_011517440.1:p.Leu211Phe, XP_011517445.1:p.Leu213Phe, XP_011517446.1:p.Leu213Phe, XP_011517442.1:p.Leu213Phe, XP_016870728.1:p.Leu213Phe, XP_047279948.1:p.Leu211Phe, XP_047279949.1:p.Leu213Phe, XP_047279950.1:p.Leu213Phe, XP_047279951.1:p.Leu213Phe

                                      19.

                                      rs1473879521 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G [Show Flanks]
                                        Chromosome:
                                        9:114264359 (GRCh38)
                                        9:117026639 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:114264358:C:A,NC_000009.12:114264358:C:G
                                        Gene:
                                        COL27A1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0.000048/1 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000009.12:g.114264359C>A, NC_000009.12:g.114264359C>G, NC_000009.11:g.117026639C>A, NC_000009.11:g.117026639C>G, NG_034260.1:g.113815C>A, NG_034260.1:g.113815C>G, NM_032888.4:c.3200C>A, NM_032888.4:c.3200C>G, NM_032888.3:c.3200C>A, NM_032888.3:c.3200C>G, NM_032888.2:c.3200C>A, NM_032888.2:c.3200C>G, XR_929860.4:n.3614C>A, XR_929860.4:n.3614C>G, XR_929860.3:n.3677C>A, XR_929860.3:n.3677C>G, XR_929860.2:n.3676C>A, XR_929860.2:n.3676C>G, XR_929860.1:n.3676C>A, XR_929860.1:n.3676C>G, XM_006717310.4:c.881C>A, XM_006717310.4:c.881C>G, XM_006717310.3:c.881C>A, XM_006717310.3:c.881C>G, XM_006717310.2:c.881C>A, XM_006717310.2:c.881C>G, XM_006717310.1:c.881C>A, XM_006717310.1:c.881C>G, XM_011519145.4:c.767C>A, XM_011519145.4:c.767C>G, XM_011519145.3:c.767C>A, XM_011519145.3:c.767C>G, XM_011519145.2:c.767C>A, XM_011519145.2:c.767C>G, XM_011519145.1:c.767C>A, XM_011519145.1:c.767C>G, XM_011519142.4:c.3200C>A, XM_011519142.4:c.3200C>G, XM_011519142.3:c.3200C>A, XM_011519142.3:c.3200C>G, XM_011519142.2:c.3200C>A, XM_011519142.2:c.3200C>G, XM_011519142.1:c.3200C>A, XM_011519142.1:c.3200C>G, XM_006717308.3:c.3146C>A, XM_006717308.3:c.3146C>G, XM_006717308.2:c.3146C>A, XM_006717308.2:c.3146C>G, XM_006717308.1:c.3146C>A, XM_006717308.1:c.3146C>G, XM_011519138.3:c.3194C>A, XM_011519138.3:c.3194C>G, XM_011519138.2:c.3194C>A, XM_011519138.2:c.3194C>G, XM_011519138.1:c.3194C>A, XM_011519138.1:c.3194C>G, XM_011519143.3:c.3200C>A, XM_011519143.3:c.3200C>G, XM_011519143.2:c.3200C>A, XM_011519143.2:c.3200C>G, XM_011519143.1:c.3200C>A, XM_011519143.1:c.3200C>G, XM_011519144.3:c.3200C>A, XM_011519144.3:c.3200C>G, XM_011519144.2:c.3200C>A, XM_011519144.2:c.3200C>G, XM_011519144.1:c.3200C>A, XM_011519144.1:c.3200C>G, XM_011519140.2:c.3146C>A, XM_011519140.2:c.3146C>G, XM_011519140.1:c.3146C>A, XM_011519140.1:c.3146C>G, XM_017015239.2:c.3200C>A, XM_017015239.2:c.3200C>G, XM_017015239.1:c.3200C>A, XM_017015239.1:c.3200C>G, XM_047423992.1:c.3140C>A, XM_047423992.1:c.3140C>G, XM_047423993.1:c.3200C>A, XM_047423993.1:c.3200C>G, XM_047423994.1:c.3207C>A, XM_047423994.1:c.3207C>G, XM_047423995.1:c.3153C>A, XM_047423995.1:c.3153C>G, NP_116277.2:p.Pro1067His, NP_116277.2:p.Pro1067Arg, XP_006717373.1:p.Pro294His, XP_006717373.1:p.Pro294Arg, XP_011517447.1:p.Pro256His, XP_011517447.1:p.Pro256Arg, XP_011517444.1:p.Pro1067His, XP_011517444.1:p.Pro1067Arg, XP_006717371.1:p.Pro1049His, XP_006717371.1:p.Pro1049Arg, XP_011517440.1:p.Pro1065His, XP_011517440.1:p.Pro1065Arg, XP_011517445.1:p.Pro1067His, XP_011517445.1:p.Pro1067Arg, XP_011517446.1:p.Pro1067His, XP_011517446.1:p.Pro1067Arg, XP_011517442.1:p.Pro1049His, XP_011517442.1:p.Pro1049Arg, XP_016870728.1:p.Pro1067His, XP_016870728.1:p.Pro1067Arg, XP_047279948.1:p.Pro1047His, XP_047279948.1:p.Pro1047Arg, XP_047279949.1:p.Pro1067His, XP_047279949.1:p.Pro1067Arg

                                        20.

                                        rs1472969488 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          9:114243531 (GRCh38)
                                          9:117005811 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:114243530:C:A
                                          Gene:
                                          COL27A1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000009.12:g.114243531C>A, NC_000009.11:g.117005811C>A, NG_034260.1:g.92987C>A, NM_032888.4:c.2905C>A, NM_032888.3:c.2905C>A, NM_032888.2:c.2905C>A, XR_929860.4:n.3319C>A, XR_929860.3:n.3382C>A, XR_929860.2:n.3381C>A, XR_929860.1:n.3381C>A, XM_006717310.4:c.586C>A, XM_006717310.3:c.586C>A, XM_006717310.2:c.586C>A, XM_006717310.1:c.586C>A, XM_011519145.4:c.472C>A, XM_011519145.3:c.472C>A, XM_011519145.2:c.472C>A, XM_011519145.1:c.472C>A, XM_011519142.4:c.2905C>A, XM_011519142.3:c.2905C>A, XM_011519142.2:c.2905C>A, XM_011519142.1:c.2905C>A, XM_006717308.3:c.2851C>A, XM_006717308.2:c.2851C>A, XM_006717308.1:c.2851C>A, XM_011519138.3:c.2899C>A, XM_011519138.2:c.2899C>A, XM_011519138.1:c.2899C>A, XM_011519143.3:c.2905C>A, XM_011519143.2:c.2905C>A, XM_011519143.1:c.2905C>A, XM_011519144.3:c.2905C>A, XM_011519144.2:c.2905C>A, XM_011519144.1:c.2905C>A, XM_011519140.2:c.2905C>A, XM_011519140.1:c.2905C>A, XM_017015239.2:c.2905C>A, XM_017015239.1:c.2905C>A, XM_047423992.1:c.2845C>A, XM_047423993.1:c.2905C>A, XM_047423994.1:c.2905C>A, XM_047423995.1:c.2905C>A, NP_116277.2:p.Pro969Thr, XP_006717373.1:p.Pro196Thr, XP_011517447.1:p.Pro158Thr, XP_011517444.1:p.Pro969Thr, XP_006717371.1:p.Pro951Thr, XP_011517440.1:p.Pro967Thr, XP_011517445.1:p.Pro969Thr, XP_011517446.1:p.Pro969Thr, XP_011517442.1:p.Pro969Thr, XP_016870728.1:p.Pro969Thr, XP_047279948.1:p.Pro949Thr, XP_047279949.1:p.Pro969Thr, XP_047279950.1:p.Pro969Thr, XP_047279951.1:p.Pro969Thr

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