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Items: 1 to 20 of 280

1.

rs1489459676 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    2:3604378 (GRCh38)
    2:3651968 (GRCh37)
    Canonical SPDI:
    NC_000002.12:3604377:G:A
    Gene:
    COLEC11 (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant
    HGVS:

    2.

    rs1481502288 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      2:3643496 (GRCh38)
      2:3691086 (GRCh37)
      Canonical SPDI:
      NC_000002.12:3643495:C:A
      Gene:
      COLEC11 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      A=0.000011/3 (TOPMED)
      HGVS:
      NC_000002.12:g.3643496C>A, NC_000002.11:g.3691086C>A, NG_031954.1:g.53665C>A, NM_024027.5:c.381C>A, NM_024027.4:c.381C>A, NM_199235.3:c.372C>A, NM_199235.2:c.372C>A, NR_045659.2:n.657C>A, NR_045659.1:n.937C>A, NM_001255983.2:c.309C>A, NM_001255983.1:c.309C>A, NM_001255982.2:c.309C>A, NM_001255982.1:c.309C>A, NM_001255984.2:c.237C>A, NM_001255984.1:c.237C>A, NM_001255985.1:c.423C>A, NM_001255986.1:c.303C>A, NM_001255988.1:c.231C>A, NM_001255987.1:c.231C>A, NM_001255989.1:c.159C>A, XM_005263853.5:c.351C>A, XM_005263853.4:c.351C>A, XM_005263853.3:c.351C>A, XM_005263853.2:c.351C>A, XM_005263853.1:c.351C>A, XM_006711897.4:c.351C>A, XM_006711897.3:c.351C>A, XM_006711897.2:c.351C>A, XM_006711897.1:c.351C>A, NP_076932.1:p.Asn127Lys, NP_954705.1:p.Asn124Lys, NP_001242912.1:p.Asn103Lys, NP_001242911.1:p.Asn103Lys, NP_001242913.1:p.Asn79Lys, NP_001242914.1:p.Asn141Lys, NP_001242915.1:p.Asn101Lys, NP_001242917.1:p.Asn77Lys, NP_001242916.1:p.Asn77Lys, NP_001242918.1:p.Asn53Lys, XP_005263910.1:p.Asn117Lys, XP_006711960.1:p.Asn117Lys

      3.

      rs1478182569 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ACG>- [Show Flanks]
        Chromosome:
        2:3644060 (GRCh38)
        2:3691650 (GRCh37)
        Canonical SPDI:
        NC_000002.12:3644056:ACGACG:ACG
        Gene:
        ALLC (Varview), COLEC11 (Varview)
        Functional Consequence:
        inframe_deletion,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by cluster
        MAF:
        -=0.000007/1 (GnomAD)
        HGVS:
        NC_000002.12:g.3644057ACG[1], NC_000002.11:g.3691647ACG[1], NG_031954.1:g.54226ACG[1], NM_024027.5:c.755ACG[1], NM_024027.4:c.755ACG[1], NM_199235.3:c.746ACG[1], NM_199235.2:c.746ACG[1], NR_045659.2:n.1031ACG[1], NR_045659.1:n.1311ACG[1], NM_001255983.2:c.683ACG[1], NM_001255983.1:c.683ACG[1], NM_001255982.2:c.683ACG[1], NM_001255982.1:c.683ACG[1], NM_001255984.2:c.611ACG[1], NM_001255984.1:c.611ACG[1], NM_001255985.1:c.797ACG[1], NM_001255986.1:c.677ACG[1], NM_001255988.1:c.605ACG[1], NM_001255987.1:c.605ACG[1], NM_001255989.1:c.533ACG[1], XM_005263853.5:c.725ACG[1], XM_005263853.4:c.725ACG[1], XM_005263853.3:c.725ACG[1], XM_005263853.2:c.725ACG[1], XM_005263853.1:c.725ACG[1], XM_006711897.4:c.725ACG[1], XM_006711897.3:c.725ACG[1], XM_006711897.2:c.725ACG[1], XM_006711897.1:c.725ACG[1], NP_076932.1:p.Asp253del, NP_954705.1:p.Asp250del, NP_001242912.1:p.Asp229del, NP_001242911.1:p.Asp229del, NP_001242913.1:p.Asp205del, NP_001242914.1:p.Asp267del, NP_001242915.1:p.Asp227del, NP_001242917.1:p.Asp203del, NP_001242916.1:p.Asp203del, NP_001242918.1:p.Asp179del, XP_005263910.1:p.Asp243del, XP_006711960.1:p.Asp243del

        4.

        rs1471620221 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          2:3643924 (GRCh38)
          2:3691514 (GRCh37)
          Canonical SPDI:
          NC_000002.12:3643923:C:G
          Gene:
          ALLC (Varview), COLEC11 (Varview)
          Functional Consequence:
          missense_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000002.12:g.3643924C>G, NC_000002.11:g.3691514C>G, NG_031954.1:g.54093C>G, NM_024027.5:c.622C>G, NM_024027.4:c.622C>G, NM_199235.3:c.613C>G, NM_199235.2:c.613C>G, NR_045659.2:n.898C>G, NR_045659.1:n.1178C>G, NM_001255983.2:c.550C>G, NM_001255983.1:c.550C>G, NM_001255982.2:c.550C>G, NM_001255982.1:c.550C>G, NM_001255984.2:c.478C>G, NM_001255984.1:c.478C>G, NM_001255985.1:c.664C>G, NM_001255986.1:c.544C>G, NM_001255988.1:c.472C>G, NM_001255987.1:c.472C>G, NM_001255989.1:c.400C>G, XM_005263853.5:c.592C>G, XM_005263853.4:c.592C>G, XM_005263853.3:c.592C>G, XM_005263853.2:c.592C>G, XM_005263853.1:c.592C>G, XM_006711897.4:c.592C>G, XM_006711897.3:c.592C>G, XM_006711897.2:c.592C>G, XM_006711897.1:c.592C>G, NP_076932.1:p.Leu208Val, NP_954705.1:p.Leu205Val, NP_001242912.1:p.Leu184Val, NP_001242911.1:p.Leu184Val, NP_001242913.1:p.Leu160Val, NP_001242914.1:p.Leu222Val, NP_001242915.1:p.Leu182Val, NP_001242917.1:p.Leu158Val, NP_001242916.1:p.Leu158Val, NP_001242918.1:p.Leu134Val, XP_005263910.1:p.Leu198Val, XP_006711960.1:p.Leu198Val

          5.

          rs1469528690 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            2:3643893 (GRCh38)
            2:3691483 (GRCh37)
            Canonical SPDI:
            NC_000002.12:3643892:C:T
            Gene:
            ALLC (Varview), COLEC11 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            T=0.000004/1 (TOPMED)
            HGVS:

            6.

            rs1465954977 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              2:3643865 (GRCh38)
              2:3691455 (GRCh37)
              Canonical SPDI:
              NC_000002.12:3643864:T:C
              Gene:
              ALLC (Varview), COLEC11 (Varview)
              Functional Consequence:
              upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant
              HGVS:
              NC_000002.12:g.3643865T>C, NC_000002.11:g.3691455T>C, NG_031954.1:g.54034T>C, NM_024027.5:c.563T>C, NM_024027.4:c.563T>C, NM_199235.3:c.554T>C, NM_199235.2:c.554T>C, NR_045659.2:n.839T>C, NR_045659.1:n.1119T>C, NM_001255983.2:c.491T>C, NM_001255983.1:c.491T>C, NM_001255982.2:c.491T>C, NM_001255982.1:c.491T>C, NM_001255984.2:c.419T>C, NM_001255984.1:c.419T>C, NM_001255985.1:c.605T>C, NM_001255986.1:c.485T>C, NM_001255988.1:c.413T>C, NM_001255987.1:c.413T>C, NM_001255989.1:c.341T>C, XM_005263853.5:c.533T>C, XM_005263853.4:c.533T>C, XM_005263853.3:c.533T>C, XM_005263853.2:c.533T>C, XM_005263853.1:c.533T>C, XM_006711897.4:c.533T>C, XM_006711897.3:c.533T>C, XM_006711897.2:c.533T>C, XM_006711897.1:c.533T>C, NP_076932.1:p.Leu188Pro, NP_954705.1:p.Leu185Pro, NP_001242912.1:p.Leu164Pro, NP_001242911.1:p.Leu164Pro, NP_001242913.1:p.Leu140Pro, NP_001242914.1:p.Leu202Pro, NP_001242915.1:p.Leu162Pro, NP_001242917.1:p.Leu138Pro, NP_001242916.1:p.Leu138Pro, NP_001242918.1:p.Leu114Pro, XP_005263910.1:p.Leu178Pro, XP_006711960.1:p.Leu178Pro

              7.

              rs1455160919 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                2:3643803 (GRCh38)
                2:3691393 (GRCh37)
                Canonical SPDI:
                NC_000002.12:3643802:G:A
                Gene:
                COLEC11 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:

                8.

                rs1454934765 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  2:3643860 (GRCh38)
                  2:3691450 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:3643859:T:C
                  Gene:
                  ALLC (Varview), COLEC11 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000094/1 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  C=0.000008/2 (TOPMED)
                  HGVS:

                  9.

                  rs1452270443 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    2:3643518 (GRCh38)
                    2:3691108 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:3643517:G:A
                    Gene:
                    COLEC11 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000002.12:g.3643518G>A, NC_000002.11:g.3691108G>A, NG_031954.1:g.53687G>A, NM_024027.5:c.403G>A, NM_024027.4:c.403G>A, NM_199235.3:c.394G>A, NM_199235.2:c.394G>A, NR_045659.2:n.679G>A, NR_045659.1:n.959G>A, NM_001255983.2:c.331G>A, NM_001255983.1:c.331G>A, NM_001255982.2:c.331G>A, NM_001255982.1:c.331G>A, NM_001255984.2:c.259G>A, NM_001255984.1:c.259G>A, NM_001255985.1:c.445G>A, NM_001255986.1:c.325G>A, NM_001255988.1:c.253G>A, NM_001255987.1:c.253G>A, NM_001255989.1:c.181G>A, XM_005263853.5:c.373G>A, XM_005263853.4:c.373G>A, XM_005263853.3:c.373G>A, XM_005263853.2:c.373G>A, XM_005263853.1:c.373G>A, XM_006711897.4:c.373G>A, XM_006711897.3:c.373G>A, XM_006711897.2:c.373G>A, XM_006711897.1:c.373G>A, NP_076932.1:p.Glu135Lys, NP_954705.1:p.Glu132Lys, NP_001242912.1:p.Glu111Lys, NP_001242911.1:p.Glu111Lys, NP_001242913.1:p.Glu87Lys, NP_001242914.1:p.Glu149Lys, NP_001242915.1:p.Glu109Lys, NP_001242917.1:p.Glu85Lys, NP_001242916.1:p.Glu85Lys, NP_001242918.1:p.Glu61Lys, XP_005263910.1:p.Glu125Lys, XP_006711960.1:p.Glu125Lys

                    10.

                    rs1446283337 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      2:3604349 (GRCh38)
                      2:3651939 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:3604348:G:T
                      Gene:
                      COLEC11 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      T=0.000014/2 (GnomAD)
                      HGVS:

                      11.

                      rs1444942273 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,G [Show Flanks]
                        Chromosome:
                        2:3643836 (GRCh38)
                        2:3691426 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:3643835:C:A,NC_000002.12:3643835:C:G
                        Gene:
                        ALLC (Varview), COLEC11 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000002.12:g.3643836C>A, NC_000002.12:g.3643836C>G, NC_000002.11:g.3691426C>A, NC_000002.11:g.3691426C>G, NG_031954.1:g.54005C>A, NG_031954.1:g.54005C>G, NM_024027.5:c.534C>A, NM_024027.5:c.534C>G, NM_024027.4:c.534C>A, NM_024027.4:c.534C>G, NM_199235.3:c.525C>A, NM_199235.3:c.525C>G, NM_199235.2:c.525C>A, NM_199235.2:c.525C>G, NR_045659.2:n.810C>A, NR_045659.2:n.810C>G, NR_045659.1:n.1090C>A, NR_045659.1:n.1090C>G, NM_001255983.2:c.462C>A, NM_001255983.2:c.462C>G, NM_001255983.1:c.462C>A, NM_001255983.1:c.462C>G, NM_001255982.2:c.462C>A, NM_001255982.2:c.462C>G, NM_001255982.1:c.462C>A, NM_001255982.1:c.462C>G, NM_001255984.2:c.390C>A, NM_001255984.2:c.390C>G, NM_001255984.1:c.390C>A, NM_001255984.1:c.390C>G, NM_001255985.1:c.576C>A, NM_001255985.1:c.576C>G, NM_001255986.1:c.456C>A, NM_001255986.1:c.456C>G, NM_001255988.1:c.384C>A, NM_001255988.1:c.384C>G, NM_001255987.1:c.384C>A, NM_001255987.1:c.384C>G, NM_001255989.1:c.312C>A, NM_001255989.1:c.312C>G, XM_005263853.5:c.504C>A, XM_005263853.5:c.504C>G, XM_005263853.4:c.504C>A, XM_005263853.4:c.504C>G, XM_005263853.3:c.504C>A, XM_005263853.3:c.504C>G, XM_005263853.2:c.504C>A, XM_005263853.2:c.504C>G, XM_005263853.1:c.504C>A, XM_005263853.1:c.504C>G, XM_006711897.4:c.504C>A, XM_006711897.4:c.504C>G, XM_006711897.3:c.504C>A, XM_006711897.3:c.504C>G, XM_006711897.2:c.504C>A, XM_006711897.2:c.504C>G, XM_006711897.1:c.504C>A, XM_006711897.1:c.504C>G, NP_076932.1:p.Ser178Arg, NP_076932.1:p.Ser178Arg, NP_954705.1:p.Ser175Arg, NP_954705.1:p.Ser175Arg, NP_001242912.1:p.Ser154Arg, NP_001242912.1:p.Ser154Arg, NP_001242911.1:p.Ser154Arg, NP_001242911.1:p.Ser154Arg, NP_001242913.1:p.Ser130Arg, NP_001242913.1:p.Ser130Arg, NP_001242914.1:p.Ser192Arg, NP_001242914.1:p.Ser192Arg, NP_001242915.1:p.Ser152Arg, NP_001242915.1:p.Ser152Arg, NP_001242917.1:p.Ser128Arg, NP_001242917.1:p.Ser128Arg, NP_001242916.1:p.Ser128Arg, NP_001242916.1:p.Ser128Arg, NP_001242918.1:p.Ser104Arg, NP_001242918.1:p.Ser104Arg, XP_005263910.1:p.Ser168Arg, XP_005263910.1:p.Ser168Arg, XP_006711960.1:p.Ser168Arg, XP_006711960.1:p.Ser168Arg

                        12.

                        rs1439911717 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          2:3613367 (GRCh38)
                          2:3660957 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:3613366:C:A
                          Gene:
                          COLEC11 (Varview)
                          Functional Consequence:
                          intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                          HGVS:

                          13.

                          rs1433143310 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            2:3643815 (GRCh38)
                            2:3691405 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:3643814:G:C
                            Gene:
                            COLEC11 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,non_coding_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            C=0.000007/1 (GnomAD)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000002.12:g.3643815G>C, NC_000002.11:g.3691405G>C, NG_031954.1:g.53984G>C, NM_024027.5:c.513G>C, NM_024027.4:c.513G>C, NM_199235.3:c.504G>C, NM_199235.2:c.504G>C, NR_045659.2:n.789G>C, NR_045659.1:n.1069G>C, NM_001255983.2:c.441G>C, NM_001255983.1:c.441G>C, NM_001255982.2:c.441G>C, NM_001255982.1:c.441G>C, NM_001255984.2:c.369G>C, NM_001255984.1:c.369G>C, NM_001255985.1:c.555G>C, NM_001255986.1:c.435G>C, NM_001255988.1:c.363G>C, NM_001255987.1:c.363G>C, NM_001255989.1:c.291G>C, XM_005263853.5:c.483G>C, XM_005263853.4:c.483G>C, XM_005263853.3:c.483G>C, XM_005263853.2:c.483G>C, XM_005263853.1:c.483G>C, XM_006711897.4:c.483G>C, XM_006711897.3:c.483G>C, XM_006711897.2:c.483G>C, XM_006711897.1:c.483G>C, NP_076932.1:p.Gln171His, NP_954705.1:p.Gln168His, NP_001242912.1:p.Gln147His, NP_001242911.1:p.Gln147His, NP_001242913.1:p.Gln123His, NP_001242914.1:p.Gln185His, NP_001242915.1:p.Gln145His, NP_001242917.1:p.Gln121His, NP_001242916.1:p.Gln121His, NP_001242918.1:p.Gln97His, XP_005263910.1:p.Gln161His, XP_006711960.1:p.Gln161His

                            14.

                            rs1432811350 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              2:3643458 (GRCh38)
                              2:3691048 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:3643457:T:C
                              Gene:
                              COLEC11 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000002.12:g.3643458T>C, NC_000002.11:g.3691048T>C, NG_031954.1:g.53627T>C, NM_024027.5:c.343T>C, NM_024027.4:c.343T>C, NM_199235.3:c.334T>C, NM_199235.2:c.334T>C, NR_045659.2:n.619T>C, NR_045659.1:n.899T>C, NM_001255983.2:c.271T>C, NM_001255983.1:c.271T>C, NM_001255982.2:c.271T>C, NM_001255982.1:c.271T>C, NM_001255984.2:c.199T>C, NM_001255984.1:c.199T>C, NM_001255985.1:c.385T>C, NM_001255986.1:c.265T>C, NM_001255988.1:c.193T>C, NM_001255987.1:c.193T>C, NM_001255989.1:c.121T>C, XM_005263853.5:c.313T>C, XM_005263853.4:c.313T>C, XM_005263853.3:c.313T>C, XM_005263853.2:c.313T>C, XM_005263853.1:c.313T>C, XM_006711897.4:c.313T>C, XM_006711897.3:c.313T>C, XM_006711897.2:c.313T>C, XM_006711897.1:c.313T>C, NP_076932.1:p.Cys115Arg, NP_954705.1:p.Cys112Arg, NP_001242912.1:p.Cys91Arg, NP_001242911.1:p.Cys91Arg, NP_001242913.1:p.Cys67Arg, NP_001242914.1:p.Cys129Arg, NP_001242915.1:p.Cys89Arg, NP_001242917.1:p.Cys65Arg, NP_001242916.1:p.Cys65Arg, NP_001242918.1:p.Cys41Arg, XP_005263910.1:p.Cys105Arg, XP_006711960.1:p.Cys105Arg

                              15.

                              rs1432352457 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                2:3643469 (GRCh38)
                                2:3691059 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:3643468:G:A
                                Gene:
                                COLEC11 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                HGVS:

                                16.

                                rs1430129638 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  2:3643886 (GRCh38)
                                  2:3691476 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:3643885:A:G
                                  Gene:
                                  ALLC (Varview), COLEC11 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000002.12:g.3643886A>G, NC_000002.11:g.3691476A>G, NG_031954.1:g.54055A>G, NM_024027.5:c.584A>G, NM_024027.4:c.584A>G, NM_199235.3:c.575A>G, NM_199235.2:c.575A>G, NR_045659.2:n.860A>G, NR_045659.1:n.1140A>G, NM_001255983.2:c.512A>G, NM_001255983.1:c.512A>G, NM_001255982.2:c.512A>G, NM_001255982.1:c.512A>G, NM_001255984.2:c.440A>G, NM_001255984.1:c.440A>G, NM_001255985.1:c.626A>G, NM_001255986.1:c.506A>G, NM_001255988.1:c.434A>G, NM_001255987.1:c.434A>G, NM_001255989.1:c.362A>G, XM_005263853.5:c.554A>G, XM_005263853.4:c.554A>G, XM_005263853.3:c.554A>G, XM_005263853.2:c.554A>G, XM_005263853.1:c.554A>G, XM_006711897.4:c.554A>G, XM_006711897.3:c.554A>G, XM_006711897.2:c.554A>G, XM_006711897.1:c.554A>G, NP_076932.1:p.Gln195Arg, NP_954705.1:p.Gln192Arg, NP_001242912.1:p.Gln171Arg, NP_001242911.1:p.Gln171Arg, NP_001242913.1:p.Gln147Arg, NP_001242914.1:p.Gln209Arg, NP_001242915.1:p.Gln169Arg, NP_001242917.1:p.Gln145Arg, NP_001242916.1:p.Gln145Arg, NP_001242918.1:p.Gln121Arg, XP_005263910.1:p.Gln185Arg, XP_006711960.1:p.Gln185Arg

                                  17.

                                  rs1429066494 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    2:3644064 (GRCh38)
                                    2:3691654 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:3644063:G:A,NC_000002.12:3644063:G:T
                                    Gene:
                                    ALLC (Varview), COLEC11 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000011/3 (TOPMED)
                                    HGVS:
                                    NC_000002.12:g.3644064G>A, NC_000002.12:g.3644064G>T, NC_000002.11:g.3691654G>A, NC_000002.11:g.3691654G>T, NG_031954.1:g.54233G>A, NG_031954.1:g.54233G>T, NM_024027.5:c.762G>A, NM_024027.5:c.762G>T, NM_024027.4:c.762G>A, NM_024027.4:c.762G>T, NM_199235.3:c.753G>A, NM_199235.3:c.753G>T, NM_199235.2:c.753G>A, NM_199235.2:c.753G>T, NR_045659.2:n.1038G>A, NR_045659.2:n.1038G>T, NR_045659.1:n.1318G>A, NR_045659.1:n.1318G>T, NM_001255983.2:c.690G>A, NM_001255983.2:c.690G>T, NM_001255983.1:c.690G>A, NM_001255983.1:c.690G>T, NM_001255982.2:c.690G>A, NM_001255982.2:c.690G>T, NM_001255982.1:c.690G>A, NM_001255982.1:c.690G>T, NM_001255984.2:c.618G>A, NM_001255984.2:c.618G>T, NM_001255984.1:c.618G>A, NM_001255984.1:c.618G>T, NM_001255985.1:c.804G>A, NM_001255985.1:c.804G>T, NM_001255986.1:c.684G>A, NM_001255986.1:c.684G>T, NM_001255988.1:c.612G>A, NM_001255988.1:c.612G>T, NM_001255987.1:c.612G>A, NM_001255987.1:c.612G>T, NM_001255989.1:c.540G>A, NM_001255989.1:c.540G>T, XM_005263853.5:c.732G>A, XM_005263853.5:c.732G>T, XM_005263853.4:c.732G>A, XM_005263853.4:c.732G>T, XM_005263853.3:c.732G>A, XM_005263853.3:c.732G>T, XM_005263853.2:c.732G>A, XM_005263853.2:c.732G>T, XM_005263853.1:c.732G>A, XM_005263853.1:c.732G>T, XM_006711897.4:c.732G>A, XM_006711897.4:c.732G>T, XM_006711897.3:c.732G>A, XM_006711897.3:c.732G>T, XM_006711897.2:c.732G>A, XM_006711897.2:c.732G>T, XM_006711897.1:c.732G>A, XM_006711897.1:c.732G>T

                                    18.

                                    rs1426153875 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      2:3644076 (GRCh38)
                                      2:3691666 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:3644075:C:G,NC_000002.12:3644075:C:T
                                      Gene:
                                      ALLC (Varview), COLEC11 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      NC_000002.12:g.3644076C>G, NC_000002.12:g.3644076C>T, NC_000002.11:g.3691666C>G, NC_000002.11:g.3691666C>T, NG_031954.1:g.54245C>G, NG_031954.1:g.54245C>T, NM_024027.5:c.774C>G, NM_024027.5:c.774C>T, NM_024027.4:c.774C>G, NM_024027.4:c.774C>T, NM_199235.3:c.765C>G, NM_199235.3:c.765C>T, NM_199235.2:c.765C>G, NM_199235.2:c.765C>T, NR_045659.2:n.1050C>G, NR_045659.2:n.1050C>T, NR_045659.1:n.1330C>G, NR_045659.1:n.1330C>T, NM_001255983.2:c.702C>G, NM_001255983.2:c.702C>T, NM_001255983.1:c.702C>G, NM_001255983.1:c.702C>T, NM_001255982.2:c.702C>G, NM_001255982.2:c.702C>T, NM_001255982.1:c.702C>G, NM_001255982.1:c.702C>T, NM_001255984.2:c.630C>G, NM_001255984.2:c.630C>T, NM_001255984.1:c.630C>G, NM_001255984.1:c.630C>T, NM_001255985.1:c.816C>G, NM_001255985.1:c.816C>T, NM_001255986.1:c.696C>G, NM_001255986.1:c.696C>T, NM_001255988.1:c.624C>G, NM_001255988.1:c.624C>T, NM_001255987.1:c.624C>G, NM_001255987.1:c.624C>T, NM_001255989.1:c.552C>G, NM_001255989.1:c.552C>T, XM_005263853.5:c.744C>G, XM_005263853.5:c.744C>T, XM_005263853.4:c.744C>G, XM_005263853.4:c.744C>T, XM_005263853.3:c.744C>G, XM_005263853.3:c.744C>T, XM_005263853.2:c.744C>G, XM_005263853.2:c.744C>T, XM_005263853.1:c.744C>G, XM_005263853.1:c.744C>T, XM_006711897.4:c.744C>G, XM_006711897.4:c.744C>T, XM_006711897.3:c.744C>G, XM_006711897.3:c.744C>T, XM_006711897.2:c.744C>G, XM_006711897.2:c.744C>T, XM_006711897.1:c.744C>G, XM_006711897.1:c.744C>T

                                      19.

                                      rs1424717283 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        2:3644080 (GRCh38)
                                        2:3691670 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:3644079:A:G
                                        Gene:
                                        ALLC (Varview), COLEC11 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000002.12:g.3644080A>G, NC_000002.11:g.3691670A>G, NG_031954.1:g.54249A>G, NM_024027.5:c.778A>G, NM_024027.4:c.778A>G, NM_199235.3:c.769A>G, NM_199235.2:c.769A>G, NR_045659.2:n.1054A>G, NR_045659.1:n.1334A>G, NM_001255983.2:c.706A>G, NM_001255983.1:c.706A>G, NM_001255982.2:c.706A>G, NM_001255982.1:c.706A>G, NM_001255984.2:c.634A>G, NM_001255984.1:c.634A>G, NM_001255985.1:c.820A>G, NM_001255986.1:c.700A>G, NM_001255988.1:c.628A>G, NM_001255987.1:c.628A>G, NM_001255989.1:c.556A>G, XM_005263853.5:c.748A>G, XM_005263853.4:c.748A>G, XM_005263853.3:c.748A>G, XM_005263853.2:c.748A>G, XM_005263853.1:c.748A>G, XM_006711897.4:c.748A>G, XM_006711897.3:c.748A>G, XM_006711897.2:c.748A>G, XM_006711897.1:c.748A>G, NP_076932.1:p.Met260Val, NP_954705.1:p.Met257Val, NP_001242912.1:p.Met236Val, NP_001242911.1:p.Met236Val, NP_001242913.1:p.Met212Val, NP_001242914.1:p.Met274Val, NP_001242915.1:p.Met234Val, NP_001242917.1:p.Met210Val, NP_001242916.1:p.Met210Val, NP_001242918.1:p.Met186Val, XP_005263910.1:p.Met250Val, XP_006711960.1:p.Met250Val

                                        20.

                                        rs1423555436 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          2:3644066 (GRCh38)
                                          2:3691656 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:3644065:C:T
                                          Gene:
                                          ALLC (Varview), COLEC11 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000447/2 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000446/2 (Estonian)
                                          HGVS:
                                          NC_000002.12:g.3644066C>T, NC_000002.11:g.3691656C>T, NG_031954.1:g.54235C>T, NM_024027.5:c.764C>T, NM_024027.4:c.764C>T, NM_199235.3:c.755C>T, NM_199235.2:c.755C>T, NR_045659.2:n.1040C>T, NR_045659.1:n.1320C>T, NM_001255983.2:c.692C>T, NM_001255983.1:c.692C>T, NM_001255982.2:c.692C>T, NM_001255982.1:c.692C>T, NM_001255984.2:c.620C>T, NM_001255984.1:c.620C>T, NM_001255985.1:c.806C>T, NM_001255986.1:c.686C>T, NM_001255988.1:c.614C>T, NM_001255987.1:c.614C>T, NM_001255989.1:c.542C>T, XM_005263853.5:c.734C>T, XM_005263853.4:c.734C>T, XM_005263853.3:c.734C>T, XM_005263853.2:c.734C>T, XM_005263853.1:c.734C>T, XM_006711897.4:c.734C>T, XM_006711897.3:c.734C>T, XM_006711897.2:c.734C>T, XM_006711897.1:c.734C>T, NP_076932.1:p.Ala255Val, NP_954705.1:p.Ala252Val, NP_001242912.1:p.Ala231Val, NP_001242911.1:p.Ala231Val, NP_001242913.1:p.Ala207Val, NP_001242914.1:p.Ala269Val, NP_001242915.1:p.Ala229Val, NP_001242917.1:p.Ala205Val, NP_001242916.1:p.Ala205Val, NP_001242918.1:p.Ala181Val, XP_005263910.1:p.Ala245Val, XP_006711960.1:p.Ala245Val

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