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Items: 1 to 20 of 1408

1.

rs1490717876 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    6:33185012 (GRCh38)
    6:33152789 (GRCh37)
    Canonical SPDI:
    NC_000006.12:33185011:G:A,NC_000006.12:33185011:G:C
    Gene:
    COL11A2 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    HGVS:
    NC_000006.12:g.33185012G>A, NC_000006.12:g.33185012G>C, NC_000006.11:g.33152789G>A, NC_000006.11:g.33152789G>C, NG_011589.1:g.12457C>T, NG_011589.1:g.12457C>G, NM_080680.3:c.919C>T, NM_080680.3:c.919C>G, NM_080680.2:c.919C>T, NM_080680.2:c.919C>G, NM_080681.3:c.841C>T, NM_080681.3:c.841C>G, NM_080681.2:c.841C>T, NM_080681.2:c.841C>G, NT_113891.3:g.4596519G>A, NT_113891.3:g.4596519G>C, NT_113891.2:g.4596625G>A, NT_113891.2:g.4596625G>C, NT_167245.2:g.4428511G>A, NT_167245.2:g.4428511G>C, NT_167245.1:g.4434096G>A, NT_167245.1:g.4434096G>C, NT_167248.2:g.4379415G>A, NT_167248.2:g.4379415G>C, NT_167248.1:g.4385011G>A, NT_167248.1:g.4385011G>C, NT_167246.2:g.4604484G>A, NT_167246.2:g.4604484G>C, NT_167246.1:g.4610104G>A, NT_167246.1:g.4610104G>C, NT_167247.2:g.4620968G>A, NT_167247.2:g.4620968G>C, NT_167247.1:g.4626553G>A, NT_167247.1:g.4626553G>C, NT_167249.2:g.4633656G>A, NT_167249.2:g.4633656G>C, NT_167249.1:g.4632954G>A, NT_167249.1:g.4632954G>C, XM_011514299.3:c.205C>T, XM_011514299.3:c.205C>G, XM_011514299.2:c.205C>T, XM_011514299.2:c.205C>G, XM_011514299.1:c.205C>T, XM_011514299.1:c.205C>G, XM_011514300.3:c.205C>T, XM_011514300.3:c.205C>G, XM_011514300.2:c.205C>T, XM_011514300.2:c.205C>G, XM_011514300.1:c.205C>T, XM_011514300.1:c.205C>G, XM_017010250.2:c.919C>T, XM_017010250.2:c.919C>G, XM_017010250.1:c.919C>T, XM_017010250.1:c.919C>G, XM_047418183.1:c.73C>T, XM_047418183.1:c.73C>G, XM_047418182.1:c.919C>T, XM_047418182.1:c.919C>G, NP_542411.2:p.Leu307Phe, NP_542411.2:p.Leu307Val, NP_542412.2:p.Leu281Phe, NP_542412.2:p.Leu281Val, XP_011512601.1:p.Leu69Phe, XP_011512601.1:p.Leu69Val, XP_011512602.1:p.Leu69Phe, XP_011512602.1:p.Leu69Val, XP_016865739.1:p.Leu307Phe, XP_016865739.1:p.Leu307Val, XP_047274139.1:p.Leu25Phe, XP_047274139.1:p.Leu25Val, XP_047274138.1:p.Leu307Phe, XP_047274138.1:p.Leu307Val

    2.

    rs1490664513 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      C>- [Show Flanks]
      Chromosome:
      6:33166178 (GRCh38)
      6:33133955 (GRCh37)
      Canonical SPDI:
      NC_000006.12:33166177:CC:C
      Gene:
      COL11A2 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
      Validated:
      by frequency,by alfa
      MAF:
      CC=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      HGVS:
      NC_000006.12:g.33166179del, NC_000006.11:g.33133956del, NG_011589.1:g.31291del, NM_080680.3:c.4421del, NM_080680.2:c.4421del, NM_080681.3:c.4163del, NM_080681.2:c.4163del, NM_080679.3:c.4100del, NM_080679.2:c.4100del, NT_113891.3:g.4577687del, NT_113891.2:g.4577793del, NT_167245.2:g.4409678del, NT_167245.1:g.4415263del, NT_167248.2:g.4360583del, NT_167248.1:g.4366179del, NT_167246.2:g.4585652del, NT_167246.1:g.4591272del, NT_167247.2:g.4602137del, NT_167247.1:g.4607722del, NT_167249.2:g.4614825del, NT_167249.1:g.4614123del, XM_011514299.3:c.3707del, XM_011514299.2:c.3707del, XM_011514299.1:c.3707del, XM_011514302.3:c.3308del, XM_011514302.2:c.3308del, XM_011514302.1:c.3308del, XM_011514300.3:c.3527del, XM_011514300.2:c.3527del, XM_011514300.1:c.3527del, XM_017010251.3:c.3239del, XM_017010251.2:c.3239del, XM_017010251.1:c.3239del, XM_017010250.2:c.4421del, XM_017010250.1:c.4421del, XM_047418182.1:c.4241del, XM_047418183.1:c.3575del, NP_542411.2:p.Gly1474fs, NP_542412.2:p.Gly1388fs, NP_542410.2:p.Gly1367fs, XP_011512601.1:p.Gly1236fs, XP_011512604.1:p.Gly1103fs, XP_011512602.1:p.Gly1176fs, XP_016865740.1:p.Gly1080fs, XP_016865739.1:p.Gly1474fs, XP_047274138.1:p.Gly1414fs, XP_047274139.1:p.Gly1192fs

      3.

      rs1490102197 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        6:33178136 (GRCh38)
        6:33145913 (GRCh37)
        Canonical SPDI:
        NC_000006.12:33178135:G:A,NC_000006.12:33178135:G:T
        Gene:
        COL11A2 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
        Validated:
        by frequency,by cluster
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        T=0.000684/2 (KOREAN)
        HGVS:
        NC_000006.12:g.33178136G>A, NC_000006.12:g.33178136G>T, NC_000006.11:g.33145913G>A, NC_000006.11:g.33145913G>T, NG_011589.1:g.19333C>T, NG_011589.1:g.19333C>A, NM_080680.3:c.1868C>T, NM_080680.3:c.1868C>A, NM_080680.2:c.1868C>T, NM_080680.2:c.1868C>A, NM_080681.3:c.1610C>T, NM_080681.3:c.1610C>A, NM_080681.2:c.1610C>T, NM_080681.2:c.1610C>A, NM_080679.3:c.1547C>T, NM_080679.3:c.1547C>A, NM_080679.2:c.1547C>T, NM_080679.2:c.1547C>A, NT_113891.3:g.4589643G>A, NT_113891.3:g.4589643G>T, NT_113891.2:g.4589749G>A, NT_113891.2:g.4589749G>T, NT_167245.2:g.4421635G>A, NT_167245.2:g.4421635G>T, NT_167245.1:g.4427220G>A, NT_167245.1:g.4427220G>T, NT_167248.2:g.4372540G>A, NT_167248.2:g.4372540G>T, NT_167248.1:g.4378136G>A, NT_167248.1:g.4378136G>T, NT_167246.2:g.4597609G>A, NT_167246.2:g.4597609G>T, NT_167246.1:g.4603229G>A, NT_167246.1:g.4603229G>T, NT_167247.2:g.4614093G>A, NT_167247.2:g.4614093G>T, NT_167247.1:g.4619678G>A, NT_167247.1:g.4619678G>T, NT_167249.2:g.4626781G>A, NT_167249.2:g.4626781G>T, NT_167249.1:g.4626079G>A, NT_167249.1:g.4626079G>T, XM_011514299.3:c.1154C>T, XM_011514299.3:c.1154C>A, XM_011514299.2:c.1154C>T, XM_011514299.2:c.1154C>A, XM_011514299.1:c.1154C>T, XM_011514299.1:c.1154C>A, XM_011514302.3:c.755C>T, XM_011514302.3:c.755C>A, XM_011514302.2:c.755C>T, XM_011514302.2:c.755C>A, XM_011514302.1:c.755C>T, XM_011514302.1:c.755C>A, XM_011514300.3:c.974C>T, XM_011514300.3:c.974C>A, XM_011514300.2:c.974C>T, XM_011514300.2:c.974C>A, XM_011514300.1:c.974C>T, XM_011514300.1:c.974C>A, XM_017010251.3:c.686C>T, XM_017010251.3:c.686C>A, XM_017010251.2:c.686C>T, XM_017010251.2:c.686C>A, XM_017010251.1:c.686C>T, XM_017010251.1:c.686C>A, XM_017010250.2:c.1868C>T, XM_017010250.2:c.1868C>A, XM_017010250.1:c.1868C>T, XM_017010250.1:c.1868C>A, XM_047418183.1:c.1022C>T, XM_047418183.1:c.1022C>A, XM_047418182.1:c.1688C>T, XM_047418182.1:c.1688C>A, NP_542411.2:p.Pro623Leu, NP_542411.2:p.Pro623His, NP_542412.2:p.Pro537Leu, NP_542412.2:p.Pro537His, NP_542410.2:p.Pro516Leu, NP_542410.2:p.Pro516His, XP_011512601.1:p.Pro385Leu, XP_011512601.1:p.Pro385His, XP_011512604.1:p.Pro252Leu, XP_011512604.1:p.Pro252His, XP_011512602.1:p.Pro325Leu, XP_011512602.1:p.Pro325His, XP_016865740.1:p.Pro229Leu, XP_016865740.1:p.Pro229His, XP_016865739.1:p.Pro623Leu, XP_016865739.1:p.Pro623His, XP_047274139.1:p.Pro341Leu, XP_047274139.1:p.Pro341His, XP_047274138.1:p.Pro563Leu, XP_047274138.1:p.Pro563His

        4.

        rs1489909983 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          6:33185427 (GRCh38)
          6:33153204 (GRCh37)
          Canonical SPDI:
          NC_000006.12:33185426:G:A
          Gene:
          COL11A2 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:

          5.

          rs1489748072 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            6:33164436 (GRCh38)
            6:33132213 (GRCh37)
            Canonical SPDI:
            NC_000006.12:33164435:A:G
            Gene:
            COL11A2 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0.000047/1 (ALFA)
            G=0.000005/1 (GnomAD_exomes)
            HGVS:
            NC_000006.12:g.33164436A>G, NC_000006.11:g.33132213A>G, NG_011589.1:g.33033T>C, NM_080680.3:c.4901T>C, NM_080680.2:c.4901T>C, NM_080681.3:c.4643T>C, NM_080681.2:c.4643T>C, NM_080679.3:c.4580T>C, NM_080679.2:c.4580T>C, NT_113891.3:g.4575944A>G, NT_113891.2:g.4576050A>G, NT_167245.2:g.4407935A>G, NT_167245.1:g.4413520A>G, NT_167248.2:g.4358840A>G, NT_167248.1:g.4364436A>G, NT_167246.2:g.4583909A>G, NT_167246.1:g.4589529A>G, NT_167247.2:g.4600394A>G, NT_167247.1:g.4605979A>G, NT_167249.2:g.4613082A>G, NT_167249.1:g.4612380A>G, XM_011514299.3:c.4187T>C, XM_011514299.2:c.4187T>C, XM_011514299.1:c.4187T>C, XM_011514302.3:c.3788T>C, XM_011514302.2:c.3788T>C, XM_011514302.1:c.3788T>C, XM_011514300.3:c.4007T>C, XM_011514300.2:c.4007T>C, XM_011514300.1:c.4007T>C, XM_017010251.3:c.3719T>C, XM_017010251.2:c.3719T>C, XM_017010251.1:c.3719T>C, XM_017010250.2:c.4901T>C, XM_017010250.1:c.4901T>C, XM_047418183.1:c.4055T>C, XM_047418182.1:c.4721T>C, NP_542411.2:p.Val1634Ala, NP_542412.2:p.Val1548Ala, NP_542410.2:p.Val1527Ala, XP_011512601.1:p.Val1396Ala, XP_011512604.1:p.Val1263Ala, XP_011512602.1:p.Val1336Ala, XP_016865740.1:p.Val1240Ala, XP_016865739.1:p.Val1634Ala, XP_047274139.1:p.Val1352Ala, XP_047274138.1:p.Val1574Ala

            6.

            rs1488408001 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              6:33171165 (GRCh38)
              6:33138942 (GRCh37)
              Canonical SPDI:
              NC_000006.12:33171164:G:A,NC_000006.12:33171164:G:T
              Gene:
              COL11A2 (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              T=0.000004/1 (TOPMED)
              HGVS:
              NC_000006.12:g.33171165G>A, NC_000006.12:g.33171165G>T, NC_000006.11:g.33138942G>A, NC_000006.11:g.33138942G>T, NG_011589.1:g.26304C>T, NG_011589.1:g.26304C>A, NM_080680.3:c.3315C>T, NM_080680.3:c.3315C>A, NM_080680.2:c.3315C>T, NM_080680.2:c.3315C>A, NM_080681.3:c.3057C>T, NM_080681.3:c.3057C>A, NM_080681.2:c.3057C>T, NM_080681.2:c.3057C>A, NM_080679.3:c.2994C>T, NM_080679.3:c.2994C>A, NM_080679.2:c.2994C>T, NM_080679.2:c.2994C>A, NT_113891.3:g.4582673G>A, NT_113891.3:g.4582673G>T, NT_113891.2:g.4582779G>A, NT_113891.2:g.4582779G>T, NT_167245.2:g.4414664G>A, NT_167245.2:g.4414664G>T, NT_167245.1:g.4420249G>A, NT_167245.1:g.4420249G>T, NT_167248.2:g.4365569G>A, NT_167248.2:g.4365569G>T, NT_167248.1:g.4371165G>A, NT_167248.1:g.4371165G>T, NT_167246.2:g.4590638G>A, NT_167246.2:g.4590638G>T, NT_167246.1:g.4596258G>A, NT_167246.1:g.4596258G>T, NT_167247.2:g.4607122G>A, NT_167247.2:g.4607122G>T, NT_167247.1:g.4612707G>A, NT_167247.1:g.4612707G>T, NT_167249.2:g.4619810G>A, NT_167249.2:g.4619810G>T, NT_167249.1:g.4619108G>A, NT_167249.1:g.4619108G>T, XM_011514299.3:c.2601C>T, XM_011514299.3:c.2601C>A, XM_011514299.2:c.2601C>T, XM_011514299.2:c.2601C>A, XM_011514299.1:c.2601C>T, XM_011514299.1:c.2601C>A, XM_011514302.3:c.2202C>T, XM_011514302.3:c.2202C>A, XM_011514302.2:c.2202C>T, XM_011514302.2:c.2202C>A, XM_011514302.1:c.2202C>T, XM_011514302.1:c.2202C>A, XM_011514300.3:c.2421C>T, XM_011514300.3:c.2421C>A, XM_011514300.2:c.2421C>T, XM_011514300.2:c.2421C>A, XM_011514300.1:c.2421C>T, XM_011514300.1:c.2421C>A, XM_017010251.3:c.2133C>T, XM_017010251.3:c.2133C>A, XM_017010251.2:c.2133C>T, XM_017010251.2:c.2133C>A, XM_017010251.1:c.2133C>T, XM_017010251.1:c.2133C>A, XM_017010250.2:c.3315C>T, XM_017010250.2:c.3315C>A, XM_017010250.1:c.3315C>T, XM_017010250.1:c.3315C>A, XM_047418182.1:c.3135C>T, XM_047418182.1:c.3135C>A, XM_047418183.1:c.2469C>T, XM_047418183.1:c.2469C>A

              7.

              rs1487938923 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                6:33165629 (GRCh38)
                6:33133406 (GRCh37)
                Canonical SPDI:
                NC_000006.12:33165628:A:G
                Gene:
                COL11A2 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000006.12:g.33165629A>G, NC_000006.11:g.33133406A>G, NG_011589.1:g.31840T>C, NM_080680.3:c.4670T>C, NM_080680.2:c.4670T>C, NM_080681.3:c.4412T>C, NM_080681.2:c.4412T>C, NM_080679.3:c.4349T>C, NM_080679.2:c.4349T>C, NT_113891.3:g.4577137A>G, NT_113891.2:g.4577243A>G, NT_167245.2:g.4409128A>G, NT_167245.1:g.4414713A>G, NT_167248.2:g.4360033A>G, NT_167248.1:g.4365629A>G, NT_167246.2:g.4585102A>G, NT_167246.1:g.4590722A>G, NT_167247.2:g.4601587A>G, NT_167247.1:g.4607172A>G, NT_167249.2:g.4614275A>G, NT_167249.1:g.4613573A>G, XM_011514299.3:c.3956T>C, XM_011514299.2:c.3956T>C, XM_011514299.1:c.3956T>C, XM_011514302.3:c.3557T>C, XM_011514302.2:c.3557T>C, XM_011514302.1:c.3557T>C, XM_011514300.3:c.3776T>C, XM_011514300.2:c.3776T>C, XM_011514300.1:c.3776T>C, XM_017010251.3:c.3488T>C, XM_017010251.2:c.3488T>C, XM_017010251.1:c.3488T>C, XM_017010250.2:c.4670T>C, XM_017010250.1:c.4670T>C, XM_047418183.1:c.3824T>C, XM_047418182.1:c.4490T>C, NP_542411.2:p.Met1557Thr, NP_542412.2:p.Met1471Thr, NP_542410.2:p.Met1450Thr, XP_011512601.1:p.Met1319Thr, XP_011512604.1:p.Met1186Thr, XP_011512602.1:p.Met1259Thr, XP_016865740.1:p.Met1163Thr, XP_016865739.1:p.Met1557Thr, XP_047274139.1:p.Met1275Thr, XP_047274138.1:p.Met1497Thr

                8.

                rs1487343187 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  6:33176284 (GRCh38)
                  6:33144061 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:33176283:C:T
                  Gene:
                  COL11A2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                  HGVS:
                  NC_000006.12:g.33176284C>T, NC_000006.11:g.33144061C>T, NG_011589.1:g.21185G>A, NM_080680.3:c.2189G>A, NM_080680.2:c.2189G>A, NM_080681.3:c.1931G>A, NM_080681.2:c.1931G>A, NM_080679.3:c.1868G>A, NM_080679.2:c.1868G>A, NT_113891.3:g.4587791C>T, NT_113891.2:g.4587897C>T, NT_167245.2:g.4419783C>T, NT_167245.1:g.4425368C>T, NT_167248.2:g.4370688C>T, NT_167248.1:g.4376284C>T, NT_167246.2:g.4595757C>T, NT_167246.1:g.4601377C>T, NT_167247.2:g.4612241C>T, NT_167247.1:g.4617826C>T, NT_167249.2:g.4624929C>T, NT_167249.1:g.4624227C>T, XM_011514299.3:c.1475G>A, XM_011514299.2:c.1475G>A, XM_011514299.1:c.1475G>A, XM_011514302.3:c.1076G>A, XM_011514302.2:c.1076G>A, XM_011514302.1:c.1076G>A, XM_011514300.3:c.1295G>A, XM_011514300.2:c.1295G>A, XM_011514300.1:c.1295G>A, XM_017010251.3:c.1007G>A, XM_017010251.2:c.1007G>A, XM_017010251.1:c.1007G>A, XM_017010250.2:c.2189G>A, XM_017010250.1:c.2189G>A, XM_047418182.1:c.2009G>A, XM_047418183.1:c.1343G>A, NP_542411.2:p.Gly730Asp, NP_542412.2:p.Gly644Asp, NP_542410.2:p.Gly623Asp, XP_011512601.1:p.Gly492Asp, XP_011512604.1:p.Gly359Asp, XP_011512602.1:p.Gly432Asp, XP_016865740.1:p.Gly336Asp, XP_016865739.1:p.Gly730Asp, XP_047274138.1:p.Gly670Asp, XP_047274139.1:p.Gly448Asp

                  9.

                  rs1487325262 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    6:33164394 (GRCh38)
                    6:33132171 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:33164393:T:A
                    Gene:
                    COL11A2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                    Clinical significance:
                    likely-pathogenic
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000006.12:g.33164394T>A, NC_000006.11:g.33132171T>A, NG_011589.1:g.33075A>T, NM_080680.3:c.4943A>T, NM_080680.2:c.4943A>T, NM_080681.3:c.4685A>T, NM_080681.2:c.4685A>T, NM_080679.3:c.4622A>T, NM_080679.2:c.4622A>T, NT_113891.3:g.4575902T>A, NT_113891.2:g.4576008T>A, NT_167245.2:g.4407893T>A, NT_167245.1:g.4413478T>A, NT_167248.2:g.4358798T>A, NT_167248.1:g.4364394T>A, NT_167246.2:g.4583867T>A, NT_167246.1:g.4589487T>A, NT_167247.2:g.4600352T>A, NT_167247.1:g.4605937T>A, NT_167249.2:g.4613040T>A, NT_167249.1:g.4612338T>A, XM_011514299.3:c.4229A>T, XM_011514299.2:c.4229A>T, XM_011514299.1:c.4229A>T, XM_011514302.3:c.3830A>T, XM_011514302.2:c.3830A>T, XM_011514302.1:c.3830A>T, XM_011514300.3:c.4049A>T, XM_011514300.2:c.4049A>T, XM_011514300.1:c.4049A>T, XM_017010251.3:c.3761A>T, XM_017010251.2:c.3761A>T, XM_017010251.1:c.3761A>T, XM_017010250.2:c.4943A>T, XM_017010250.1:c.4943A>T, XM_047418183.1:c.4097A>T, XM_047418182.1:c.4763A>T, NP_542411.2:p.His1648Leu, NP_542412.2:p.His1562Leu, NP_542410.2:p.His1541Leu, XP_011512601.1:p.His1410Leu, XP_011512604.1:p.His1277Leu, XP_011512602.1:p.His1350Leu, XP_016865740.1:p.His1254Leu, XP_016865739.1:p.His1648Leu, XP_047274139.1:p.His1366Leu, XP_047274138.1:p.His1588Leu

                    10.

                    rs1487152821 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      6:33180274 (GRCh38)
                      6:33148051 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:33180273:G:A
                      Gene:
                      COL11A2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_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)
                      HGVS:
                      NC_000006.12:g.33180274G>A, NC_000006.11:g.33148051G>A, NG_011589.1:g.17195C>T, NM_080680.3:c.1343C>T, NM_080680.2:c.1343C>T, NM_080681.3:c.1085C>T, NM_080681.2:c.1085C>T, NM_080679.3:c.1022C>T, NM_080679.2:c.1022C>T, NT_113891.3:g.4591781G>A, NT_113891.2:g.4591887G>A, NT_167245.2:g.4423773G>A, NT_167245.1:g.4429358G>A, NT_167248.2:g.4374678G>A, NT_167248.1:g.4380274G>A, NT_167246.2:g.4599747G>A, NT_167246.1:g.4605367G>A, NT_167247.2:g.4616231G>A, NT_167247.1:g.4621816G>A, NT_167249.2:g.4628919G>A, NT_167249.1:g.4628217G>A, XM_011514299.3:c.629C>T, XM_011514299.2:c.629C>T, XM_011514299.1:c.629C>T, XM_011514302.3:c.230C>T, XM_011514302.2:c.230C>T, XM_011514302.1:c.230C>T, XM_011514300.3:c.449C>T, XM_011514300.2:c.449C>T, XM_011514300.1:c.449C>T, XM_017010251.3:c.161C>T, XM_017010251.2:c.161C>T, XM_017010251.1:c.161C>T, XM_017010250.2:c.1343C>T, XM_017010250.1:c.1343C>T, XM_047418183.1:c.497C>T, XM_047418182.1:c.1163C>T, NP_542411.2:p.Thr448Ile, NP_542412.2:p.Thr362Ile, NP_542410.2:p.Thr341Ile, XP_011512601.1:p.Thr210Ile, XP_011512604.1:p.Thr77Ile, XP_011512602.1:p.Thr150Ile, XP_016865740.1:p.Thr54Ile, XP_016865739.1:p.Thr448Ile, XP_047274139.1:p.Thr166Ile, XP_047274138.1:p.Thr388Ile

                      11.

                      rs1486478872 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        6:33172065 (GRCh38)
                        6:33139842 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:33172064:G:A,NC_000006.12:33172064:G:T
                        Gene:
                        COL11A2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000006.12:g.33172065G>A, NC_000006.12:g.33172065G>T, NC_000006.11:g.33139842G>A, NC_000006.11:g.33139842G>T, NG_011589.1:g.25404C>T, NG_011589.1:g.25404C>A, NM_080680.3:c.3027C>T, NM_080680.3:c.3027C>A, NM_080680.2:c.3027C>T, NM_080680.2:c.3027C>A, NM_080681.3:c.2769C>T, NM_080681.3:c.2769C>A, NM_080681.2:c.2769C>T, NM_080681.2:c.2769C>A, NM_080679.3:c.2706C>T, NM_080679.3:c.2706C>A, NM_080679.2:c.2706C>T, NM_080679.2:c.2706C>A, NT_113891.3:g.4583573G>A, NT_113891.3:g.4583573G>T, NT_113891.2:g.4583679G>A, NT_113891.2:g.4583679G>T, NT_167245.2:g.4415564G>A, NT_167245.2:g.4415564G>T, NT_167245.1:g.4421149G>A, NT_167245.1:g.4421149G>T, NT_167248.2:g.4366469G>A, NT_167248.2:g.4366469G>T, NT_167248.1:g.4372065G>A, NT_167248.1:g.4372065G>T, NT_167246.2:g.4591538G>A, NT_167246.2:g.4591538G>T, NT_167246.1:g.4597158G>A, NT_167246.1:g.4597158G>T, NT_167247.2:g.4608022G>A, NT_167247.2:g.4608022G>T, NT_167247.1:g.4613607G>A, NT_167247.1:g.4613607G>T, NT_167249.2:g.4620710G>A, NT_167249.2:g.4620710G>T, NT_167249.1:g.4620008G>A, NT_167249.1:g.4620008G>T, XM_011514299.3:c.2313C>T, XM_011514299.3:c.2313C>A, XM_011514299.2:c.2313C>T, XM_011514299.2:c.2313C>A, XM_011514299.1:c.2313C>T, XM_011514299.1:c.2313C>A, XM_011514302.3:c.1914C>T, XM_011514302.3:c.1914C>A, XM_011514302.2:c.1914C>T, XM_011514302.2:c.1914C>A, XM_011514302.1:c.1914C>T, XM_011514302.1:c.1914C>A, XM_011514300.3:c.2133C>T, XM_011514300.3:c.2133C>A, XM_011514300.2:c.2133C>T, XM_011514300.2:c.2133C>A, XM_011514300.1:c.2133C>T, XM_011514300.1:c.2133C>A, XM_017010251.3:c.1845C>T, XM_017010251.3:c.1845C>A, XM_017010251.2:c.1845C>T, XM_017010251.2:c.1845C>A, XM_017010251.1:c.1845C>T, XM_017010251.1:c.1845C>A, XM_017010250.2:c.3027C>T, XM_017010250.2:c.3027C>A, XM_017010250.1:c.3027C>T, XM_017010250.1:c.3027C>A, XM_047418182.1:c.2847C>T, XM_047418182.1:c.2847C>A, XM_047418183.1:c.2181C>T, XM_047418183.1:c.2181C>A

                        12.

                        rs1485334101 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          6:33172373 (GRCh38)
                          6:33140150 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:33172372:G:A,NC_000006.12:33172372:G:T
                          Gene:
                          COL11A2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,synonymous_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          G=0.5/1 (SGDP_PRJ)
                          HGVS:
                          NC_000006.12:g.33172373G>A, NC_000006.12:g.33172373G>T, NC_000006.11:g.33140150G>A, NC_000006.11:g.33140150G>T, NG_011589.1:g.25096C>T, NG_011589.1:g.25096C>A, NM_080680.3:c.2904C>T, NM_080680.3:c.2904C>A, NM_080680.2:c.2904C>T, NM_080680.2:c.2904C>A, NM_080681.3:c.2646C>T, NM_080681.3:c.2646C>A, NM_080681.2:c.2646C>T, NM_080681.2:c.2646C>A, NM_080679.3:c.2583C>T, NM_080679.3:c.2583C>A, NM_080679.2:c.2583C>T, NM_080679.2:c.2583C>A, NT_113891.3:g.4583881G>A, NT_113891.3:g.4583881G>T, NT_113891.2:g.4583987G>A, NT_113891.2:g.4583987G>T, NT_167245.2:g.4415872G>A, NT_167245.2:g.4415872G>T, NT_167245.1:g.4421457G>A, NT_167245.1:g.4421457G>T, NT_167248.2:g.4366777G>A, NT_167248.2:g.4366777G>T, NT_167248.1:g.4372373G>A, NT_167248.1:g.4372373G>T, NT_167246.2:g.4591846G>A, NT_167246.2:g.4591846G>T, NT_167246.1:g.4597466G>A, NT_167246.1:g.4597466G>T, NT_167247.2:g.4608330G>A, NT_167247.2:g.4608330G>T, NT_167247.1:g.4613915G>A, NT_167247.1:g.4613915G>T, NT_167249.2:g.4621018G>A, NT_167249.2:g.4621018G>T, NT_167249.1:g.4620316G>A, NT_167249.1:g.4620316G>T, XM_011514299.3:c.2190C>T, XM_011514299.3:c.2190C>A, XM_011514299.2:c.2190C>T, XM_011514299.2:c.2190C>A, XM_011514299.1:c.2190C>T, XM_011514299.1:c.2190C>A, XM_011514302.3:c.1791C>T, XM_011514302.3:c.1791C>A, XM_011514302.2:c.1791C>T, XM_011514302.2:c.1791C>A, XM_011514302.1:c.1791C>T, XM_011514302.1:c.1791C>A, XM_011514300.3:c.2010C>T, XM_011514300.3:c.2010C>A, XM_011514300.2:c.2010C>T, XM_011514300.2:c.2010C>A, XM_011514300.1:c.2010C>T, XM_011514300.1:c.2010C>A, XM_017010251.3:c.1722C>T, XM_017010251.3:c.1722C>A, XM_017010251.2:c.1722C>T, XM_017010251.2:c.1722C>A, XM_017010251.1:c.1722C>T, XM_017010251.1:c.1722C>A, XM_017010250.2:c.2904C>T, XM_017010250.2:c.2904C>A, XM_017010250.1:c.2904C>T, XM_017010250.1:c.2904C>A, XM_047418182.1:c.2724C>T, XM_047418182.1:c.2724C>A, XM_047418183.1:c.2058C>T, XM_047418183.1:c.2058C>A, NP_542411.2:p.Asp968Glu, NP_542412.2:p.Asp882Glu, NP_542410.2:p.Asp861Glu, XP_011512601.1:p.Asp730Glu, XP_011512604.1:p.Asp597Glu, XP_011512602.1:p.Asp670Glu, XP_016865740.1:p.Asp574Glu, XP_016865739.1:p.Asp968Glu, XP_047274138.1:p.Asp908Glu, XP_047274139.1:p.Asp686Glu

                          13.

                          rs1484454426 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            6:33172344 (GRCh38)
                            6:33140121 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:33172343:T:G
                            Gene:
                            COL11A2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000028/1 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000006.12:g.33172344T>G, NC_000006.11:g.33140121T>G, NG_011589.1:g.25125A>C, NM_080680.3:c.2933A>C, NM_080680.2:c.2933A>C, NM_080681.3:c.2675A>C, NM_080681.2:c.2675A>C, NM_080679.3:c.2612A>C, NM_080679.2:c.2612A>C, NT_113891.3:g.4583852T>G, NT_113891.2:g.4583958T>G, NT_167245.2:g.4415843T>G, NT_167245.1:g.4421428T>G, NT_167248.2:g.4366748T>G, NT_167248.1:g.4372344T>G, NT_167246.2:g.4591817T>G, NT_167246.1:g.4597437T>G, NT_167247.2:g.4608301T>G, NT_167247.1:g.4613886T>G, NT_167249.2:g.4620989T>G, NT_167249.1:g.4620287T>G, XM_011514299.3:c.2219A>C, XM_011514299.2:c.2219A>C, XM_011514299.1:c.2219A>C, XM_011514302.3:c.1820A>C, XM_011514302.2:c.1820A>C, XM_011514302.1:c.1820A>C, XM_011514300.3:c.2039A>C, XM_011514300.2:c.2039A>C, XM_011514300.1:c.2039A>C, XM_017010251.3:c.1751A>C, XM_017010251.2:c.1751A>C, XM_017010251.1:c.1751A>C, XM_017010250.2:c.2933A>C, XM_017010250.1:c.2933A>C, XM_047418183.1:c.2087A>C, XM_047418182.1:c.2753A>C, NP_542411.2:p.Asp978Ala, NP_542412.2:p.Asp892Ala, NP_542410.2:p.Asp871Ala, XP_011512601.1:p.Asp740Ala, XP_011512604.1:p.Asp607Ala, XP_011512602.1:p.Asp680Ala, XP_016865740.1:p.Asp584Ala, XP_016865739.1:p.Asp978Ala, XP_047274139.1:p.Asp696Ala, XP_047274138.1:p.Asp918Ala

                            14.

                            rs1483323590 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              6:33174532 (GRCh38)
                              6:33142309 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:33174531:G:A,NC_000006.12:33174531:G:C
                              Gene:
                              COL11A2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                              Clinical significance:
                              uncertain-significance
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000006.12:g.33174532G>A, NC_000006.12:g.33174532G>C, NC_000006.11:g.33142309G>A, NC_000006.11:g.33142309G>C, NG_011589.1:g.22937C>T, NG_011589.1:g.22937C>G, NM_080680.3:c.2425C>T, NM_080680.3:c.2425C>G, NM_080680.2:c.2425C>T, NM_080680.2:c.2425C>G, NM_080681.3:c.2167C>T, NM_080681.3:c.2167C>G, NM_080681.2:c.2167C>T, NM_080681.2:c.2167C>G, NM_080679.3:c.2104C>T, NM_080679.3:c.2104C>G, NM_080679.2:c.2104C>T, NM_080679.2:c.2104C>G, NT_113891.3:g.4586039G>A, NT_113891.3:g.4586039G>C, NT_113891.2:g.4586145G>A, NT_113891.2:g.4586145G>C, NT_167245.2:g.4418031G>A, NT_167245.2:g.4418031G>C, NT_167245.1:g.4423616G>A, NT_167245.1:g.4423616G>C, NT_167248.2:g.4368936G>A, NT_167248.2:g.4368936G>C, NT_167248.1:g.4374532G>A, NT_167248.1:g.4374532G>C, NT_167246.2:g.4594005G>A, NT_167246.2:g.4594005G>C, NT_167246.1:g.4599625G>A, NT_167246.1:g.4599625G>C, NT_167247.2:g.4610489G>A, NT_167247.2:g.4610489G>C, NT_167247.1:g.4616074G>A, NT_167247.1:g.4616074G>C, NT_167249.2:g.4623177G>A, NT_167249.2:g.4623177G>C, NT_167249.1:g.4622475G>A, NT_167249.1:g.4622475G>C, XM_011514299.3:c.1711C>T, XM_011514299.3:c.1711C>G, XM_011514299.2:c.1711C>T, XM_011514299.2:c.1711C>G, XM_011514299.1:c.1711C>T, XM_011514299.1:c.1711C>G, XM_011514302.3:c.1312C>T, XM_011514302.3:c.1312C>G, XM_011514302.2:c.1312C>T, XM_011514302.2:c.1312C>G, XM_011514302.1:c.1312C>T, XM_011514302.1:c.1312C>G, XM_011514300.3:c.1531C>T, XM_011514300.3:c.1531C>G, XM_011514300.2:c.1531C>T, XM_011514300.2:c.1531C>G, XM_011514300.1:c.1531C>T, XM_011514300.1:c.1531C>G, XM_017010251.3:c.1243C>T, XM_017010251.3:c.1243C>G, XM_017010251.2:c.1243C>T, XM_017010251.2:c.1243C>G, XM_017010251.1:c.1243C>T, XM_017010251.1:c.1243C>G, XM_017010250.2:c.2425C>T, XM_017010250.2:c.2425C>G, XM_017010250.1:c.2425C>T, XM_017010250.1:c.2425C>G, XM_047418183.1:c.1579C>T, XM_047418183.1:c.1579C>G, XM_047418182.1:c.2245C>T, XM_047418182.1:c.2245C>G, NP_542411.2:p.Pro809Ser, NP_542411.2:p.Pro809Ala, NP_542412.2:p.Pro723Ser, NP_542412.2:p.Pro723Ala, NP_542410.2:p.Pro702Ser, NP_542410.2:p.Pro702Ala, XP_011512601.1:p.Pro571Ser, XP_011512601.1:p.Pro571Ala, XP_011512604.1:p.Pro438Ser, XP_011512604.1:p.Pro438Ala, XP_011512602.1:p.Pro511Ser, XP_011512602.1:p.Pro511Ala, XP_016865740.1:p.Pro415Ser, XP_016865740.1:p.Pro415Ala, XP_016865739.1:p.Pro809Ser, XP_016865739.1:p.Pro809Ala, XP_047274139.1:p.Pro527Ser, XP_047274139.1:p.Pro527Ala, XP_047274138.1:p.Pro749Ser, XP_047274138.1:p.Pro749Ala

                              15.

                              rs1482045805 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                6:33179740 (GRCh38)
                                6:33147517 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:33179739:C:G,NC_000006.12:33179739:C:T
                                Gene:
                                COL11A2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,synonymous_variant
                                HGVS:
                                NC_000006.12:g.33179740C>G, NC_000006.12:g.33179740C>T, NC_000006.11:g.33147517C>G, NC_000006.11:g.33147517C>T, NG_011589.1:g.17729G>C, NG_011589.1:g.17729G>A, NM_080680.3:c.1425G>C, NM_080680.3:c.1425G>A, NM_080680.2:c.1425G>C, NM_080680.2:c.1425G>A, NM_080681.3:c.1167G>C, NM_080681.3:c.1167G>A, NM_080681.2:c.1167G>C, NM_080681.2:c.1167G>A, NM_080679.3:c.1104G>C, NM_080679.3:c.1104G>A, NM_080679.2:c.1104G>C, NM_080679.2:c.1104G>A, NT_113891.3:g.4591247C>G, NT_113891.3:g.4591247C>T, NT_113891.2:g.4591353C>G, NT_113891.2:g.4591353C>T, NT_167245.2:g.4423239C>G, NT_167245.2:g.4423239C>T, NT_167245.1:g.4428824C>G, NT_167245.1:g.4428824C>T, NT_167248.2:g.4374144C>G, NT_167248.2:g.4374144C>T, NT_167248.1:g.4379740C>G, NT_167248.1:g.4379740C>T, NT_167246.2:g.4599213C>G, NT_167246.2:g.4599213C>T, NT_167246.1:g.4604833C>G, NT_167246.1:g.4604833C>T, NT_167247.2:g.4615697C>G, NT_167247.2:g.4615697C>T, NT_167247.1:g.4621282C>G, NT_167247.1:g.4621282C>T, NT_167249.2:g.4628385C>G, NT_167249.2:g.4628385C>T, NT_167249.1:g.4627683C>G, NT_167249.1:g.4627683C>T, XM_011514299.3:c.711G>C, XM_011514299.3:c.711G>A, XM_011514299.2:c.711G>C, XM_011514299.2:c.711G>A, XM_011514299.1:c.711G>C, XM_011514299.1:c.711G>A, XM_011514302.3:c.312G>C, XM_011514302.3:c.312G>A, XM_011514302.2:c.312G>C, XM_011514302.2:c.312G>A, XM_011514302.1:c.312G>C, XM_011514302.1:c.312G>A, XM_011514300.3:c.531G>C, XM_011514300.3:c.531G>A, XM_011514300.2:c.531G>C, XM_011514300.2:c.531G>A, XM_011514300.1:c.531G>C, XM_011514300.1:c.531G>A, XM_017010251.3:c.243G>C, XM_017010251.3:c.243G>A, XM_017010251.2:c.243G>C, XM_017010251.2:c.243G>A, XM_017010251.1:c.243G>C, XM_017010251.1:c.243G>A, XM_017010250.2:c.1425G>C, XM_017010250.2:c.1425G>A, XM_017010250.1:c.1425G>C, XM_017010250.1:c.1425G>A, XM_047418183.1:c.579G>C, XM_047418183.1:c.579G>A, XM_047418182.1:c.1245G>C, XM_047418182.1:c.1245G>A, NP_542411.2:p.Gln475His, NP_542412.2:p.Gln389His, NP_542410.2:p.Gln368His, XP_011512601.1:p.Gln237His, XP_011512604.1:p.Gln104His, XP_011512602.1:p.Gln177His, XP_016865740.1:p.Gln81His, XP_016865739.1:p.Gln475His, XP_047274139.1:p.Gln193His, XP_047274138.1:p.Gln415His

                                16.

                                rs1481362106 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  6:33174197 (GRCh38)
                                  6:33141974 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:33174196:A:G
                                  Gene:
                                  COL11A2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                  HGVS:
                                  NC_000006.12:g.33174197A>G, NC_000006.11:g.33141974A>G, NG_011589.1:g.23272T>C, NM_080680.3:c.2452T>C, NM_080680.2:c.2452T>C, NM_080681.3:c.2194T>C, NM_080681.2:c.2194T>C, NM_080679.3:c.2131T>C, NM_080679.2:c.2131T>C, NT_113891.3:g.4585705A>G, NT_113891.2:g.4585811A>G, NT_167245.2:g.4417696A>G, NT_167245.1:g.4423281A>G, NT_167248.2:g.4368601A>G, NT_167248.1:g.4374197A>G, NT_167246.2:g.4593670A>G, NT_167246.1:g.4599290A>G, NT_167247.2:g.4610154A>G, NT_167247.1:g.4615739A>G, NT_167249.2:g.4622842A>G, NT_167249.1:g.4622140A>G, XM_011514299.3:c.1738T>C, XM_011514299.2:c.1738T>C, XM_011514299.1:c.1738T>C, XM_011514302.3:c.1339T>C, XM_011514302.2:c.1339T>C, XM_011514302.1:c.1339T>C, XM_011514300.3:c.1558T>C, XM_011514300.2:c.1558T>C, XM_011514300.1:c.1558T>C, XM_017010251.3:c.1270T>C, XM_017010251.2:c.1270T>C, XM_017010251.1:c.1270T>C, XM_017010250.2:c.2452T>C, XM_017010250.1:c.2452T>C, XM_047418182.1:c.2272T>C, XM_047418183.1:c.1606T>C, NP_542411.2:p.Phe818Leu, NP_542412.2:p.Phe732Leu, NP_542410.2:p.Phe711Leu, XP_011512601.1:p.Phe580Leu, XP_011512604.1:p.Phe447Leu, XP_011512602.1:p.Phe520Leu, XP_016865740.1:p.Phe424Leu, XP_016865739.1:p.Phe818Leu, XP_047274138.1:p.Phe758Leu, XP_047274139.1:p.Phe536Leu

                                  17.

                                  rs1480837654 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    6:33172301 (GRCh38)
                                    6:33140078 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:33172300:G:A
                                    Gene:
                                    COL11A2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                    HGVS:
                                    NC_000006.12:g.33172301G>A, NC_000006.11:g.33140078G>A, NG_011589.1:g.25168C>T, NM_080680.3:c.2976C>T, NM_080680.2:c.2976C>T, NM_080681.3:c.2718C>T, NM_080681.2:c.2718C>T, NM_080679.3:c.2655C>T, NM_080679.2:c.2655C>T, NT_113891.3:g.4583809G>A, NT_113891.2:g.4583915G>A, NT_167245.2:g.4415800G>A, NT_167245.1:g.4421385G>A, NT_167248.2:g.4366705G>A, NT_167248.1:g.4372301G>A, NT_167246.2:g.4591774G>A, NT_167246.1:g.4597394G>A, NT_167247.2:g.4608258G>A, NT_167247.1:g.4613843G>A, NT_167249.2:g.4620946G>A, NT_167249.1:g.4620244G>A, XM_011514299.3:c.2262C>T, XM_011514299.2:c.2262C>T, XM_011514299.1:c.2262C>T, XM_011514302.3:c.1863C>T, XM_011514302.2:c.1863C>T, XM_011514302.1:c.1863C>T, XM_011514300.3:c.2082C>T, XM_011514300.2:c.2082C>T, XM_011514300.1:c.2082C>T, XM_017010251.3:c.1794C>T, XM_017010251.2:c.1794C>T, XM_017010251.1:c.1794C>T, XM_017010250.2:c.2976C>T, XM_017010250.1:c.2976C>T, XM_047418183.1:c.2130C>T, XM_047418182.1:c.2796C>T

                                    18.

                                    rs1480725418 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      6:33170340 (GRCh38)
                                      6:33138117 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:33170339:G:A
                                      Gene:
                                      COL11A2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000011/3 (TOPMED)
                                      A=0.000021/3 (GnomAD)
                                      HGVS:
                                      NC_000006.12:g.33170340G>A, NC_000006.11:g.33138117G>A, NG_011589.1:g.27129C>T, NM_080680.3:c.3568C>T, NM_080680.2:c.3568C>T, NM_080681.3:c.3310C>T, NM_080681.2:c.3310C>T, NM_080679.3:c.3247C>T, NM_080679.2:c.3247C>T, NT_113891.3:g.4581849G>A, NT_113891.2:g.4581955G>A, NT_167245.2:g.4413839G>A, NT_167245.1:g.4419424G>A, NT_167248.2:g.4364745G>A, NT_167248.1:g.4370341G>A, NT_167246.2:g.4589814G>A, NT_167246.1:g.4595434G>A, NT_167247.2:g.4606298G>A, NT_167247.1:g.4611883G>A, NT_167249.2:g.4618986G>A, NT_167249.1:g.4618284G>A, XM_011514299.3:c.2854C>T, XM_011514299.2:c.2854C>T, XM_011514299.1:c.2854C>T, XM_011514302.3:c.2455C>T, XM_011514302.2:c.2455C>T, XM_011514302.1:c.2455C>T, XM_011514300.3:c.2674C>T, XM_011514300.2:c.2674C>T, XM_011514300.1:c.2674C>T, XM_017010251.3:c.2386C>T, XM_017010251.2:c.2386C>T, XM_017010251.1:c.2386C>T, XM_017010250.2:c.3568C>T, XM_017010250.1:c.3568C>T, XM_047418182.1:c.3388C>T, XM_047418183.1:c.2722C>T, NP_542411.2:p.Pro1190Ser, NP_542412.2:p.Pro1104Ser, NP_542410.2:p.Pro1083Ser, XP_011512601.1:p.Pro952Ser, XP_011512604.1:p.Pro819Ser, XP_011512602.1:p.Pro892Ser, XP_016865740.1:p.Pro796Ser, XP_016865739.1:p.Pro1190Ser, XP_047274138.1:p.Pro1130Ser, XP_047274139.1:p.Pro908Ser

                                      19.

                                      rs1480679012 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        6:33166817 (GRCh38)
                                        6:33134594 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:33166816:C:T
                                        Gene:
                                        COL11A2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000006.12:g.33166817C>T, NC_000006.11:g.33134594C>T, NG_011589.1:g.30652G>A, NM_080680.3:c.4241G>A, NM_080680.2:c.4241G>A, NM_080681.3:c.3983G>A, NM_080681.2:c.3983G>A, NM_080679.3:c.3920G>A, NM_080679.2:c.3920G>A, NT_113891.3:g.4578325C>T, NT_113891.2:g.4578431C>T, NT_167245.2:g.4410316C>T, NT_167245.1:g.4415901C>T, NT_167248.2:g.4361221C>T, NT_167248.1:g.4366817C>T, NT_167246.2:g.4586290C>T, NT_167246.1:g.4591910C>T, NT_167247.2:g.4602775C>T, NT_167247.1:g.4608360C>T, NT_167249.2:g.4615463C>T, NT_167249.1:g.4614761C>T, XM_011514299.3:c.3527G>A, XM_011514299.2:c.3527G>A, XM_011514299.1:c.3527G>A, XM_011514302.3:c.3128G>A, XM_011514302.2:c.3128G>A, XM_011514302.1:c.3128G>A, XM_011514300.3:c.3347G>A, XM_011514300.2:c.3347G>A, XM_011514300.1:c.3347G>A, XM_017010251.3:c.3059G>A, XM_017010251.2:c.3059G>A, XM_017010251.1:c.3059G>A, XM_017010250.2:c.4241G>A, XM_017010250.1:c.4241G>A, XM_047418183.1:c.3395G>A, XM_047418182.1:c.4061G>A, NP_542411.2:p.Gly1414Asp, NP_542412.2:p.Gly1328Asp, NP_542410.2:p.Gly1307Asp, XP_011512601.1:p.Gly1176Asp, XP_011512604.1:p.Gly1043Asp, XP_011512602.1:p.Gly1116Asp, XP_016865740.1:p.Gly1020Asp, XP_016865739.1:p.Gly1414Asp, XP_047274139.1:p.Gly1132Asp, XP_047274138.1:p.Gly1354Asp

                                        20.

                                        rs1480626588 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          6:33167851 (GRCh38)
                                          6:33135628 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:33167850:C:T
                                          Gene:
                                          COL11A2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000006.12:g.33167851C>T, NC_000006.11:g.33135628C>T, NG_011589.1:g.29618G>A, NM_080680.3:c.3962G>A, NM_080680.2:c.3962G>A, NM_080681.3:c.3704G>A, NM_080681.2:c.3704G>A, NM_080679.3:c.3641G>A, NM_080679.2:c.3641G>A, NT_113891.3:g.4579359C>T, NT_113891.2:g.4579465C>T, NT_167245.2:g.4411350C>T, NT_167245.1:g.4416935C>T, NT_167248.2:g.4362255C>T, NT_167248.1:g.4367851C>T, NT_167246.2:g.4587324C>T, NT_167246.1:g.4592944C>T, NT_167247.2:g.4603809C>T, NT_167247.1:g.4609394C>T, NT_167249.2:g.4616497C>T, NT_167249.1:g.4615795C>T, XM_011514299.3:c.3248G>A, XM_011514299.2:c.3248G>A, XM_011514299.1:c.3248G>A, XM_011514302.3:c.2849G>A, XM_011514302.2:c.2849G>A, XM_011514302.1:c.2849G>A, XM_011514300.3:c.3068G>A, XM_011514300.2:c.3068G>A, XM_011514300.1:c.3068G>A, XM_017010251.3:c.2780G>A, XM_017010251.2:c.2780G>A, XM_017010251.1:c.2780G>A, XM_017010250.2:c.3962G>A, XM_017010250.1:c.3962G>A, XM_047418183.1:c.3116G>A, XM_047418182.1:c.3782G>A, NP_542411.2:p.Gly1321Asp, NP_542412.2:p.Gly1235Asp, NP_542410.2:p.Gly1214Asp, XP_011512601.1:p.Gly1083Asp, XP_011512604.1:p.Gly950Asp, XP_011512602.1:p.Gly1023Asp, XP_016865740.1:p.Gly927Asp, XP_016865739.1:p.Gly1321Asp, XP_047274139.1:p.Gly1039Asp, XP_047274138.1:p.Gly1261Asp

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