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Items: 1 to 20 of 1492

1.

rs1490964680 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    1:167829346 (GRCh38)
    1:167798584 (GRCh37)
    Canonical SPDI:
    NC_000001.11:167829345:A:G
    Gene:
    ADCY10 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.167829346A>G, NC_000001.10:g.167798584A>G, NG_016139.2:g.89788T>C, NG_016139.1:g.89870T>C, NM_018417.6:c.3671T>C, NM_018417.5:c.3671T>C, NM_018417.4:c.3671T>C, NM_001167749.3:c.3212T>C, NM_001167749.2:c.3212T>C, NM_001167749.1:c.3212T>C, NM_001297772.2:c.3395T>C, NM_001297772.1:c.3395T>C, XM_006711449.5:c.3671T>C, XM_006711449.4:c.3671T>C, XM_006711449.3:c.3671T>C, XM_006711449.2:c.3671T>C, XM_006711449.1:c.3671T>C, XM_011509760.4:c.3671T>C, XM_011509760.3:c.3671T>C, XM_011509760.2:c.3671T>C, XM_011509760.1:c.3671T>C, XM_011509762.4:c.3527T>C, XM_011509762.3:c.3527T>C, XM_011509762.2:c.3527T>C, XM_011509762.1:c.3527T>C, XM_017001778.3:c.*12T>C, XM_017001778.2:c.*12T>C, XM_017001778.1:c.*12T>C, NM_018673.1:c.3671T>C, XM_047425153.1:c.3671T>C, NP_060887.2:p.Leu1224Pro, NP_001161221.1:p.Leu1071Pro, NP_001284701.1:p.Leu1132Pro, XP_006711512.1:p.Leu1224Pro, XP_011508062.1:p.Leu1224Pro, XP_011508064.1:p.Leu1176Pro, XP_047281109.1:p.Leu1224Pro

    2.

    rs1490512674 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      1:167833142 (GRCh38)
      1:167802380 (GRCh37)
      Canonical SPDI:
      NC_000001.11:167833141:C:T
      Gene:
      ADCY10 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_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)
      HGVS:
      NC_000001.11:g.167833142C>T, NC_000001.10:g.167802380C>T, NG_016139.2:g.85992G>A, NG_016139.1:g.86074G>A, NM_018417.6:c.3438G>A, NM_018417.5:c.3438G>A, NM_018417.4:c.3438G>A, NM_001167749.3:c.2979G>A, NM_001167749.2:c.2979G>A, NM_001167749.1:c.2979G>A, NM_001297772.2:c.3162G>A, NM_001297772.1:c.3162G>A, XM_005245330.6:c.3438G>A, XM_005245330.5:c.3438G>A, XM_005245330.4:c.3438G>A, XM_005245330.3:c.3438G>A, XM_005245330.2:c.3438G>A, XM_005245330.1:c.3438G>A, XM_006711449.5:c.3438G>A, XM_006711449.4:c.3438G>A, XM_006711449.3:c.3438G>A, XM_006711449.2:c.3438G>A, XM_006711449.1:c.3438G>A, XM_011509760.4:c.3438G>A, XM_011509760.3:c.3438G>A, XM_011509760.2:c.3438G>A, XM_011509760.1:c.3438G>A, XM_011509762.4:c.3294G>A, XM_011509762.3:c.3294G>A, XM_011509762.2:c.3294G>A, XM_011509762.1:c.3294G>A, XM_011509763.4:c.3433G>A, XM_011509763.3:c.3433G>A, XM_011509763.2:c.3433G>A, XM_011509763.1:c.3433G>A, XM_017001778.3:c.3433G>A, XM_017001778.2:c.3433G>A, XM_017001778.1:c.3433G>A, NM_018673.1:c.3438G>A, XM_047425153.1:c.3438G>A, XP_011508065.1:p.Asp1145Asn, XP_016857267.1:p.Asp1145Asn

      3.

      rs1489558358 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:167810898 (GRCh38)
        1:167780135 (GRCh37)
        Canonical SPDI:
        NC_000001.11:167810897:C:T
        Gene:
        ADCY10 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        T=0.000008/2 (TOPMED)
        T=0.000014/2 (GnomAD)
        HGVS:
        NC_000001.11:g.167810898C>T, NC_000001.10:g.167780135C>T, NG_016139.2:g.108236G>A, NG_016139.1:g.108319G>A, NM_018417.6:c.4498G>A, NM_018417.5:c.4498G>A, NM_018417.4:c.4498G>A, NM_001167749.3:c.4039G>A, NM_001167749.2:c.4039G>A, NM_001167749.1:c.4039G>A, NM_001297772.2:c.4222G>A, NM_001297772.1:c.4222G>A, XM_011509760.4:c.4498G>A, XM_011509760.3:c.4498G>A, XM_011509760.2:c.4498G>A, XM_011509760.1:c.4498G>A, XM_011509762.4:c.4354G>A, XM_011509762.3:c.4354G>A, XM_011509762.2:c.4354G>A, XM_011509762.1:c.4354G>A, XM_011509763.4:c.4336G>A, XM_011509763.3:c.4336G>A, XM_011509763.2:c.4336G>A, XM_011509763.1:c.4336G>A, NM_018673.1:c.4498G>A, NP_060887.2:p.Val1500Met, NP_001161221.1:p.Val1347Met, NP_001284701.1:p.Val1408Met, XP_011508062.1:p.Val1500Met, XP_011508064.1:p.Val1452Met, XP_011508065.1:p.Val1446Met

        4.

        rs1489187200 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          1:167836324 (GRCh38)
          1:167805562 (GRCh37)
          Canonical SPDI:
          NC_000001.11:167836323:A:G
          Gene:
          ADCY10 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          HGVS:
          NC_000001.11:g.167836324A>G, NC_000001.10:g.167805562A>G, NG_016139.2:g.82810T>C, NG_016139.1:g.82892T>C, NM_018417.6:c.3294T>C, NM_018417.5:c.3294T>C, NM_018417.4:c.3294T>C, NM_001167749.3:c.2835T>C, NM_001167749.2:c.2835T>C, NM_001167749.1:c.2835T>C, NM_001297772.2:c.3018T>C, NM_001297772.1:c.3018T>C, XM_005245330.6:c.3294T>C, XM_005245330.5:c.3294T>C, XM_005245330.4:c.3294T>C, XM_005245330.3:c.3294T>C, XM_005245330.2:c.3294T>C, XM_005245330.1:c.3294T>C, XM_006711449.5:c.3294T>C, XM_006711449.4:c.3294T>C, XM_006711449.3:c.3294T>C, XM_006711449.2:c.3294T>C, XM_006711449.1:c.3294T>C, XM_011509760.4:c.3294T>C, XM_011509760.3:c.3294T>C, XM_011509760.2:c.3294T>C, XM_011509760.1:c.3294T>C, XM_011509762.4:c.3150T>C, XM_011509762.3:c.3150T>C, XM_011509762.2:c.3150T>C, XM_011509762.1:c.3150T>C, XM_011509763.4:c.3294T>C, XM_011509763.3:c.3294T>C, XM_011509763.2:c.3294T>C, XM_011509763.1:c.3294T>C, XM_011509766.4:c.3294T>C, XM_011509766.3:c.3294T>C, XM_011509766.2:c.3294T>C, XM_011509766.1:c.3294T>C, XM_017001778.3:c.3294T>C, XM_017001778.2:c.3294T>C, XM_017001778.1:c.3294T>C, NM_018673.1:c.3294T>C, XM_047425153.1:c.3294T>C

          5.

          rs1488097535 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:167880580 (GRCh38)
            1:167849818 (GRCh37)
            Canonical SPDI:
            NC_000001.11:167880579:G:A
            Gene:
            ADCY10 (Varview), DCAF6 (Varview)
            Functional Consequence:
            intron_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.000111/1 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000001.11:g.167880580G>A, NC_000001.10:g.167849818G>A, NG_016139.2:g.38554C>T, NG_016139.1:g.38636C>T, NM_018417.6:c.1050C>T, NM_018417.5:c.1050C>T, NM_018417.4:c.1050C>T, NM_001167749.3:c.591C>T, NM_001167749.2:c.591C>T, NM_001167749.1:c.591C>T, NM_001297772.2:c.774C>T, NM_001297772.1:c.774C>T, XM_005245330.6:c.1050C>T, XM_005245330.5:c.1050C>T, XM_005245330.4:c.1050C>T, XM_005245330.3:c.1050C>T, XM_005245330.2:c.1050C>T, XM_005245330.1:c.1050C>T, XM_006711449.5:c.1050C>T, XM_006711449.4:c.1050C>T, XM_006711449.3:c.1050C>T, XM_006711449.2:c.1050C>T, XM_006711449.1:c.1050C>T, XM_011509760.4:c.1050C>T, XM_011509760.3:c.1050C>T, XM_011509760.2:c.1050C>T, XM_011509760.1:c.1050C>T, XM_011509762.4:c.906C>T, XM_011509762.3:c.906C>T, XM_011509762.2:c.906C>T, XM_011509762.1:c.906C>T, XM_011509763.4:c.1050C>T, XM_011509763.3:c.1050C>T, XM_011509763.2:c.1050C>T, XM_011509763.1:c.1050C>T, XM_011509766.4:c.1050C>T, XM_011509766.3:c.1050C>T, XM_011509766.2:c.1050C>T, XM_011509766.1:c.1050C>T, XM_017001778.3:c.1050C>T, XM_017001778.2:c.1050C>T, XM_017001778.1:c.1050C>T, NM_018673.1:c.1050C>T, XM_047425153.1:c.1050C>T

            6.

            rs1487543558 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              1:167810825 (GRCh38)
              1:167780062 (GRCh37)
              Canonical SPDI:
              NC_000001.11:167810824:A:G
              Gene:
              ADCY10 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.167810825A>G, NC_000001.10:g.167780062A>G, NG_016139.2:g.108309T>C, NG_016139.1:g.108392T>C, NM_018417.6:c.4571T>C, NM_018417.5:c.4571T>C, NM_018417.4:c.4571T>C, NM_001167749.3:c.4112T>C, NM_001167749.2:c.4112T>C, NM_001167749.1:c.4112T>C, NM_001297772.2:c.4295T>C, NM_001297772.1:c.4295T>C, XM_011509760.4:c.4571T>C, XM_011509760.3:c.4571T>C, XM_011509760.2:c.4571T>C, XM_011509760.1:c.4571T>C, XM_011509762.4:c.4427T>C, XM_011509762.3:c.4427T>C, XM_011509762.2:c.4427T>C, XM_011509762.1:c.4427T>C, XM_011509763.4:c.4409T>C, XM_011509763.3:c.4409T>C, XM_011509763.2:c.4409T>C, XM_011509763.1:c.4409T>C, NM_018673.1:c.4571T>C, NP_060887.2:p.Met1524Thr, NP_001161221.1:p.Met1371Thr, NP_001284701.1:p.Met1432Thr, XP_011508062.1:p.Met1524Thr, XP_011508064.1:p.Met1476Thr, XP_011508065.1:p.Met1470Thr

              7.

              rs1486684034 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->T [Show Flanks]
                Chromosome:
                1:167833037 (GRCh38)
                1:167802276 (GRCh37)
                Canonical SPDI:
                NC_000001.11:167833037:TTTTT:TTTTTT
                Gene:
                ADCY10 (Varview)
                Functional Consequence:
                frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTT=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000001.11:g.167833042dup, NC_000001.10:g.167802280dup, NG_016139.2:g.86096dup, NG_016139.1:g.86178dup, NM_018417.6:c.3542dup, NM_018417.5:c.3542dup, NM_018417.4:c.3542dup, NM_001167749.3:c.3083dup, NM_001167749.2:c.3083dup, NM_001167749.1:c.3083dup, NM_001297772.2:c.3266dup, NM_001297772.1:c.3266dup, XM_005245330.6:c.3542dup, XM_005245330.5:c.3542dup, XM_005245330.4:c.3542dup, XM_005245330.3:c.3542dup, XM_005245330.2:c.3542dup, XM_005245330.1:c.3542dup, XM_006711449.5:c.3542dup, XM_006711449.4:c.3542dup, XM_006711449.3:c.3542dup, XM_006711449.2:c.3542dup, XM_006711449.1:c.3542dup, XM_011509760.4:c.3542dup, XM_011509760.3:c.3542dup, XM_011509760.2:c.3542dup, XM_011509760.1:c.3542dup, XM_011509762.4:c.3398dup, XM_011509762.3:c.3398dup, XM_011509762.2:c.3398dup, XM_011509762.1:c.3398dup, XM_011509763.4:c.3537dup, XM_011509763.3:c.3537dup, XM_011509763.2:c.3537dup, XM_011509763.1:c.3537dup, XM_017001778.3:c.3537dup, XM_017001778.2:c.3537dup, XM_017001778.1:c.3537dup, NM_018673.1:c.3542dup, XM_047425153.1:c.3542dup, NP_060887.2:p.Asn1181fs, NP_001161221.1:p.Asn1028fs, NP_001284701.1:p.Asn1089fs, XP_005245387.1:p.Asn1181fs, XP_006711512.1:p.Asn1181fs, XP_011508062.1:p.Asn1181fs, XP_011508064.1:p.Asn1133fs, XP_011508065.1:p.Gln1180fs, XP_016857267.1:p.Gln1180fs, XP_047281109.1:p.Asn1181fs

                8.

                rs1486443067 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:167823093 (GRCh38)
                  1:167792331 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:167823092:C:T
                  Gene:
                  ADCY10 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1485952278 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CTG>- [Show Flanks]
                    Chromosome:
                    1:167870350 (GRCh38)
                    1:167839588 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:167870345:GCTGCTG:GCTG
                    Gene:
                    ADCY10 (Varview), DCAF6 (Varview)
                    Functional Consequence:
                    inframe_deletion,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    GCTG=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000001.11:g.167870347CTG[1], NC_000001.10:g.167839585CTG[1], NG_016139.2:g.48783AGC[1], NG_016139.1:g.48865AGC[1], NM_018417.6:c.1522AGC[1], NM_018417.5:c.1522AGC[1], NM_018417.4:c.1522AGC[1], NM_001167749.3:c.1063AGC[1], NM_001167749.2:c.1063AGC[1], NM_001167749.1:c.1063AGC[1], NM_001297772.2:c.1246AGC[1], NM_001297772.1:c.1246AGC[1], XM_005245330.6:c.1522AGC[1], XM_005245330.5:c.1522AGC[1], XM_005245330.4:c.1522AGC[1], XM_005245330.3:c.1522AGC[1], XM_005245330.2:c.1522AGC[1], XM_005245330.1:c.1522AGC[1], XM_006711449.5:c.1522AGC[1], XM_006711449.4:c.1522AGC[1], XM_006711449.3:c.1522AGC[1], XM_006711449.2:c.1522AGC[1], XM_006711449.1:c.1522AGC[1], XM_011509760.4:c.1522AGC[1], XM_011509760.3:c.1522AGC[1], XM_011509760.2:c.1522AGC[1], XM_011509760.1:c.1522AGC[1], XM_011509762.4:c.1378AGC[1], XM_011509762.3:c.1378AGC[1], XM_011509762.2:c.1378AGC[1], XM_011509762.1:c.1378AGC[1], XM_011509763.4:c.1522AGC[1], XM_011509763.3:c.1522AGC[1], XM_011509763.2:c.1522AGC[1], XM_011509763.1:c.1522AGC[1], XM_011509766.4:c.1522AGC[1], XM_011509766.3:c.1522AGC[1], XM_011509766.2:c.1522AGC[1], XM_011509766.1:c.1522AGC[1], XM_017001778.3:c.1522AGC[1], XM_017001778.2:c.1522AGC[1], XM_017001778.1:c.1522AGC[1], NM_018673.1:c.1522AGC[1], XM_047425153.1:c.1522AGC[1], NP_060887.2:p.Ser509del, NP_001161221.1:p.Ser356del, NP_001284701.1:p.Ser417del, XP_005245387.1:p.Ser509del, XP_006711512.1:p.Ser509del, XP_011508062.1:p.Ser509del, XP_011508064.1:p.Ser461del, XP_011508065.1:p.Ser509del, XP_011508068.1:p.Ser509del, XP_016857267.1:p.Ser509del, XP_047281109.1:p.Ser509del

                    10.

                    rs1485273641 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:167809770 (GRCh38)
                      1:167779007 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:167809769:A:G
                      Gene:
                      ADCY10 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000001.11:g.167809770A>G, NC_000001.10:g.167779007A>G, NG_016139.2:g.109364T>C, NG_016139.1:g.109447T>C, NM_018417.6:c.4741T>C, NM_018417.5:c.4741T>C, NM_018417.4:c.4741T>C, NM_001167749.3:c.4282T>C, NM_001167749.2:c.4282T>C, NM_001167749.1:c.4282T>C, NM_001297772.2:c.4465T>C, NM_001297772.1:c.4465T>C, XM_006711449.5:c.4552T>C, XM_006711449.4:c.4552T>C, XM_006711449.3:c.4552T>C, XM_006711449.2:c.4552T>C, XM_006711449.1:c.4552T>C, XM_011509760.4:c.4741T>C, XM_011509760.3:c.4741T>C, XM_011509760.2:c.4741T>C, XM_011509760.1:c.4741T>C, XM_011509762.4:c.4597T>C, XM_011509762.3:c.4597T>C, XM_011509762.2:c.4597T>C, XM_011509762.1:c.4597T>C, XM_011509763.4:c.4579T>C, XM_011509763.3:c.4579T>C, XM_011509763.2:c.4579T>C, XM_011509763.1:c.4579T>C, NM_018673.1:c.4741T>C, NP_060887.2:p.Trp1581Arg, NP_001161221.1:p.Trp1428Arg, NP_001284701.1:p.Trp1489Arg, XP_006711512.1:p.Trp1518Arg, XP_011508062.1:p.Trp1581Arg, XP_011508064.1:p.Trp1533Arg, XP_011508065.1:p.Trp1527Arg

                      11.

                      rs1485169415 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TGATGGAAGCTGAT>- [Show Flanks]
                        Chromosome:
                        1:167861025 (GRCh38)
                        1:167830263 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:167861023:TTGATGGAAGCTGAT:T
                        Gene:
                        ADCY10 (Varview)
                        Functional Consequence:
                        frameshift_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        -=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.167861025_167861038del, NC_000001.10:g.167830263_167830276del, NG_016139.2:g.58097_58110del, NG_016139.1:g.58179_58192del, NM_018417.6:c.1643_1656del, NM_018417.5:c.1643_1656del, NM_018417.4:c.1643_1656del, NM_001167749.3:c.1184_1197del, NM_001167749.2:c.1184_1197del, NM_001167749.1:c.1184_1197del, NM_001297772.2:c.1367_1380del, NM_001297772.1:c.1367_1380del, XM_005245330.6:c.1643_1656del, XM_005245330.5:c.1643_1656del, XM_005245330.4:c.1643_1656del, XM_005245330.3:c.1643_1656del, XM_005245330.2:c.1643_1656del, XM_005245330.1:c.1643_1656del, XM_006711449.5:c.1643_1656del, XM_006711449.4:c.1643_1656del, XM_006711449.3:c.1643_1656del, XM_006711449.2:c.1643_1656del, XM_006711449.1:c.1643_1656del, XM_011509760.4:c.1643_1656del, XM_011509760.3:c.1643_1656del, XM_011509760.2:c.1643_1656del, XM_011509760.1:c.1643_1656del, XM_011509762.4:c.1499_1512del, XM_011509762.3:c.1499_1512del, XM_011509762.2:c.1499_1512del, XM_011509762.1:c.1499_1512del, XM_011509763.4:c.1643_1656del, XM_011509763.3:c.1643_1656del, XM_011509763.2:c.1643_1656del, XM_011509763.1:c.1643_1656del, XM_011509766.4:c.1643_1656del, XM_011509766.3:c.1643_1656del, XM_011509766.2:c.1643_1656del, XM_011509766.1:c.1643_1656del, XM_017001778.3:c.1643_1656del, XM_017001778.2:c.1643_1656del, XM_017001778.1:c.1643_1656del, NM_018673.1:c.1643_1656del, XM_047425153.1:c.1643_1656del, NP_060887.2:p.Ile548fs, NP_001161221.1:p.Ile395fs, NP_001284701.1:p.Ile456fs, XP_005245387.1:p.Ile548fs, XP_006711512.1:p.Ile548fs, XP_011508062.1:p.Ile548fs, XP_011508064.1:p.Ile500fs, XP_011508065.1:p.Ile548fs, XP_011508068.1:p.Ile548fs, XP_016857267.1:p.Ile548fs, XP_047281109.1:p.Ile548fs

                        12.

                        rs1484151994 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          1:167899466 (GRCh38)
                          1:167868704 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:167899465:C:A
                          Gene:
                          ADCY10 (Varview), DCAF6 (Varview)
                          Functional Consequence:
                          intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000001.11:g.167899466C>A, NC_000001.10:g.167868704C>A, NG_016139.2:g.19668G>T, NG_016139.1:g.19750G>T, NM_018417.6:c.599G>T, NM_018417.5:c.599G>T, NM_018417.4:c.599G>T, NM_001167749.3:c.140G>T, NM_001167749.2:c.140G>T, NM_001167749.1:c.140G>T, NM_001297772.2:c.323G>T, NM_001297772.1:c.323G>T, XM_005245330.6:c.599G>T, XM_005245330.5:c.599G>T, XM_005245330.4:c.599G>T, XM_005245330.3:c.599G>T, XM_005245330.2:c.599G>T, XM_005245330.1:c.599G>T, XM_006711449.5:c.599G>T, XM_006711449.4:c.599G>T, XM_006711449.3:c.599G>T, XM_006711449.2:c.599G>T, XM_006711449.1:c.599G>T, XM_011509760.4:c.599G>T, XM_011509760.3:c.599G>T, XM_011509760.2:c.599G>T, XM_011509760.1:c.599G>T, XM_011509762.4:c.455G>T, XM_011509762.3:c.455G>T, XM_011509762.2:c.455G>T, XM_011509762.1:c.455G>T, XM_011509763.4:c.599G>T, XM_011509763.3:c.599G>T, XM_011509763.2:c.599G>T, XM_011509763.1:c.599G>T, XM_011509766.4:c.599G>T, XM_011509766.3:c.599G>T, XM_011509766.2:c.599G>T, XM_011509766.1:c.599G>T, XM_017001778.3:c.599G>T, XM_017001778.2:c.599G>T, XM_017001778.1:c.599G>T, NM_018673.1:c.599G>T, XM_047425153.1:c.599G>T, NP_060887.2:p.Ser200Ile, NP_001161221.1:p.Ser47Ile, NP_001284701.1:p.Ser108Ile, XP_005245387.1:p.Ser200Ile, XP_006711512.1:p.Ser200Ile, XP_011508062.1:p.Ser200Ile, XP_011508064.1:p.Ser152Ile, XP_011508065.1:p.Ser200Ile, XP_011508068.1:p.Ser200Ile, XP_016857267.1:p.Ser200Ile, XP_047281109.1:p.Ser200Ile

                          13.

                          rs1483324671 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:167846166 (GRCh38)
                            1:167815404 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:167846165:C:T
                            Gene:
                            ADCY10 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000001.11:g.167846166C>T, NC_000001.10:g.167815404C>T, NG_016139.2:g.72968G>A, NG_016139.1:g.73050G>A, NM_018417.6:c.2535G>A, NM_018417.5:c.2535G>A, NM_018417.4:c.2535G>A, NM_001167749.3:c.2076G>A, NM_001167749.2:c.2076G>A, NM_001167749.1:c.2076G>A, NM_001297772.2:c.2259G>A, NM_001297772.1:c.2259G>A, XM_005245330.6:c.2535G>A, XM_005245330.5:c.2535G>A, XM_005245330.4:c.2535G>A, XM_005245330.3:c.2535G>A, XM_005245330.2:c.2535G>A, XM_005245330.1:c.2535G>A, XM_006711449.5:c.2535G>A, XM_006711449.4:c.2535G>A, XM_006711449.3:c.2535G>A, XM_006711449.2:c.2535G>A, XM_006711449.1:c.2535G>A, XM_011509760.4:c.2535G>A, XM_011509760.3:c.2535G>A, XM_011509760.2:c.2535G>A, XM_011509760.1:c.2535G>A, XM_011509762.4:c.2391G>A, XM_011509762.3:c.2391G>A, XM_011509762.2:c.2391G>A, XM_011509762.1:c.2391G>A, XM_011509763.4:c.2535G>A, XM_011509763.3:c.2535G>A, XM_011509763.2:c.2535G>A, XM_011509763.1:c.2535G>A, XM_011509766.4:c.2535G>A, XM_011509766.3:c.2535G>A, XM_011509766.2:c.2535G>A, XM_011509766.1:c.2535G>A, XM_017001778.3:c.2535G>A, XM_017001778.2:c.2535G>A, XM_017001778.1:c.2535G>A, NM_018673.1:c.2535G>A, XM_047425153.1:c.2535G>A

                            14.

                            rs1482532266 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              1:167883607 (GRCh38)
                              1:167852845 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:167883606:C:A
                              Gene:
                              ADCY10 (Varview), DCAF6 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              A=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000001.11:g.167883607C>A, NC_000001.10:g.167852845C>A, NG_016139.2:g.35527G>T, NG_016139.1:g.35609G>T, NM_018417.6:c.850G>T, NM_018417.5:c.850G>T, NM_018417.4:c.850G>T, NM_001167749.3:c.391G>T, NM_001167749.2:c.391G>T, NM_001167749.1:c.391G>T, NM_001297772.2:c.574G>T, NM_001297772.1:c.574G>T, XM_005245330.6:c.850G>T, XM_005245330.5:c.850G>T, XM_005245330.4:c.850G>T, XM_005245330.3:c.850G>T, XM_005245330.2:c.850G>T, XM_005245330.1:c.850G>T, XM_006711449.5:c.850G>T, XM_006711449.4:c.850G>T, XM_006711449.3:c.850G>T, XM_006711449.2:c.850G>T, XM_006711449.1:c.850G>T, XM_011509760.4:c.850G>T, XM_011509760.3:c.850G>T, XM_011509760.2:c.850G>T, XM_011509760.1:c.850G>T, XM_011509762.4:c.706G>T, XM_011509762.3:c.706G>T, XM_011509762.2:c.706G>T, XM_011509762.1:c.706G>T, XM_011509763.4:c.850G>T, XM_011509763.3:c.850G>T, XM_011509763.2:c.850G>T, XM_011509763.1:c.850G>T, XM_011509766.4:c.850G>T, XM_011509766.3:c.850G>T, XM_011509766.2:c.850G>T, XM_011509766.1:c.850G>T, XM_017001778.3:c.850G>T, XM_017001778.2:c.850G>T, XM_017001778.1:c.850G>T, NM_018673.1:c.850G>T, XM_047425153.1:c.850G>T, NP_060887.2:p.Gly284Cys, NP_001161221.1:p.Gly131Cys, NP_001284701.1:p.Gly192Cys, XP_005245387.1:p.Gly284Cys, XP_006711512.1:p.Gly284Cys, XP_011508062.1:p.Gly284Cys, XP_011508064.1:p.Gly236Cys, XP_011508065.1:p.Gly284Cys, XP_011508068.1:p.Gly284Cys, XP_016857267.1:p.Gly284Cys, XP_047281109.1:p.Gly284Cys

                              15.

                              rs1482068653 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                1:167845848 (GRCh38)
                                1:167815086 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:167845847:C:A,NC_000001.11:167845847:C:T
                                Gene:
                                ADCY10 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.00003/1 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                T=0.000007/1 (GnomAD)
                                T=0.000035/1 (TOMMO)
                                HGVS:
                                NC_000001.11:g.167845848C>A, NC_000001.11:g.167845848C>T, NC_000001.10:g.167815086C>A, NC_000001.10:g.167815086C>T, NG_016139.2:g.73286G>T, NG_016139.2:g.73286G>A, NG_016139.1:g.73368G>T, NG_016139.1:g.73368G>A, NM_018417.6:c.2722G>T, NM_018417.6:c.2722G>A, NM_018417.5:c.2722G>T, NM_018417.5:c.2722G>A, NM_018417.4:c.2722G>T, NM_018417.4:c.2722G>A, NM_001167749.3:c.2263G>T, NM_001167749.3:c.2263G>A, NM_001167749.2:c.2263G>T, NM_001167749.2:c.2263G>A, NM_001167749.1:c.2263G>T, NM_001167749.1:c.2263G>A, NM_001297772.2:c.2446G>T, NM_001297772.2:c.2446G>A, NM_001297772.1:c.2446G>T, NM_001297772.1:c.2446G>A, XM_005245330.6:c.2722G>T, XM_005245330.6:c.2722G>A, XM_005245330.5:c.2722G>T, XM_005245330.5:c.2722G>A, XM_005245330.4:c.2722G>T, XM_005245330.4:c.2722G>A, XM_005245330.3:c.2722G>T, XM_005245330.3:c.2722G>A, XM_005245330.2:c.2722G>T, XM_005245330.2:c.2722G>A, XM_005245330.1:c.2722G>T, XM_005245330.1:c.2722G>A, XM_006711449.5:c.2722G>T, XM_006711449.5:c.2722G>A, XM_006711449.4:c.2722G>T, XM_006711449.4:c.2722G>A, XM_006711449.3:c.2722G>T, XM_006711449.3:c.2722G>A, XM_006711449.2:c.2722G>T, XM_006711449.2:c.2722G>A, XM_006711449.1:c.2722G>T, XM_006711449.1:c.2722G>A, XM_011509760.4:c.2722G>T, XM_011509760.4:c.2722G>A, XM_011509760.3:c.2722G>T, XM_011509760.3:c.2722G>A, XM_011509760.2:c.2722G>T, XM_011509760.2:c.2722G>A, XM_011509760.1:c.2722G>T, XM_011509760.1:c.2722G>A, XM_011509762.4:c.2578G>T, XM_011509762.4:c.2578G>A, XM_011509762.3:c.2578G>T, XM_011509762.3:c.2578G>A, XM_011509762.2:c.2578G>T, XM_011509762.2:c.2578G>A, XM_011509762.1:c.2578G>T, XM_011509762.1:c.2578G>A, XM_011509763.4:c.2722G>T, XM_011509763.4:c.2722G>A, XM_011509763.3:c.2722G>T, XM_011509763.3:c.2722G>A, XM_011509763.2:c.2722G>T, XM_011509763.2:c.2722G>A, XM_011509763.1:c.2722G>T, XM_011509763.1:c.2722G>A, XM_011509766.4:c.2722G>T, XM_011509766.4:c.2722G>A, XM_011509766.3:c.2722G>T, XM_011509766.3:c.2722G>A, XM_011509766.2:c.2722G>T, XM_011509766.2:c.2722G>A, XM_011509766.1:c.2722G>T, XM_011509766.1:c.2722G>A, XM_017001778.3:c.2722G>T, XM_017001778.3:c.2722G>A, XM_017001778.2:c.2722G>T, XM_017001778.2:c.2722G>A, XM_017001778.1:c.2722G>T, XM_017001778.1:c.2722G>A, NM_018673.1:c.2722G>T, NM_018673.1:c.2722G>A, XM_047425153.1:c.2722G>T, XM_047425153.1:c.2722G>A, NP_060887.2:p.Gly908Cys, NP_060887.2:p.Gly908Ser, NP_001161221.1:p.Gly755Cys, NP_001161221.1:p.Gly755Ser, NP_001284701.1:p.Gly816Cys, NP_001284701.1:p.Gly816Ser, XP_005245387.1:p.Gly908Cys, XP_005245387.1:p.Gly908Ser, XP_006711512.1:p.Gly908Cys, XP_006711512.1:p.Gly908Ser, XP_011508062.1:p.Gly908Cys, XP_011508062.1:p.Gly908Ser, XP_011508064.1:p.Gly860Cys, XP_011508064.1:p.Gly860Ser, XP_011508065.1:p.Gly908Cys, XP_011508065.1:p.Gly908Ser, XP_011508068.1:p.Gly908Cys, XP_011508068.1:p.Gly908Ser, XP_016857267.1:p.Gly908Cys, XP_016857267.1:p.Gly908Ser, XP_047281109.1:p.Gly908Cys, XP_047281109.1:p.Gly908Ser

                                16.

                                rs1480914192 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:167809783 (GRCh38)
                                  1:167779020 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:167809782:C:T
                                  Gene:
                                  ADCY10 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1480526120 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:167810854 (GRCh38)
                                    1:167780091 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:167810853:G:A
                                    Gene:
                                    ADCY10 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_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:

                                    18.

                                    rs1479882916 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:167899628 (GRCh38)
                                      1:167868866 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:167899627:C:T
                                      Gene:
                                      ADCY10 (Varview), DCAF6 (Varview)
                                      Functional Consequence:
                                      missense_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      NC_000001.11:g.167899628C>T, NC_000001.10:g.167868866C>T, NG_016139.2:g.19506G>A, NG_016139.1:g.19588G>A, NM_018417.6:c.437G>A, NM_018417.5:c.437G>A, NM_018417.4:c.437G>A, NM_001167749.3:c.-23G>A, NM_001167749.2:c.-23G>A, NM_001167749.1:c.-23G>A, NM_001297772.2:c.161G>A, NM_001297772.1:c.161G>A, XM_005245330.6:c.437G>A, XM_005245330.5:c.437G>A, XM_005245330.4:c.437G>A, XM_005245330.3:c.437G>A, XM_005245330.2:c.437G>A, XM_005245330.1:c.437G>A, XM_006711449.5:c.437G>A, XM_006711449.4:c.437G>A, XM_006711449.3:c.437G>A, XM_006711449.2:c.437G>A, XM_006711449.1:c.437G>A, XM_011509760.4:c.437G>A, XM_011509760.3:c.437G>A, XM_011509760.2:c.437G>A, XM_011509760.1:c.437G>A, XM_011509762.4:c.293G>A, XM_011509762.3:c.293G>A, XM_011509762.2:c.293G>A, XM_011509762.1:c.293G>A, XM_011509763.4:c.437G>A, XM_011509763.3:c.437G>A, XM_011509763.2:c.437G>A, XM_011509763.1:c.437G>A, XM_011509766.4:c.437G>A, XM_011509766.3:c.437G>A, XM_011509766.2:c.437G>A, XM_011509766.1:c.437G>A, XM_017001778.3:c.437G>A, XM_017001778.2:c.437G>A, XM_017001778.1:c.437G>A, NM_018673.1:c.437G>A, XM_047425153.1:c.437G>A, NP_060887.2:p.Gly146Glu, NP_001284701.1:p.Gly54Glu, XP_005245387.1:p.Gly146Glu, XP_006711512.1:p.Gly146Glu, XP_011508062.1:p.Gly146Glu, XP_011508064.1:p.Gly98Glu, XP_011508065.1:p.Gly146Glu, XP_011508068.1:p.Gly146Glu, XP_016857267.1:p.Gly146Glu, XP_047281109.1:p.Gly146Glu

                                      19.

                                      rs1479516263 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        1:167836520 (GRCh38)
                                        1:167805758 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:167836519:T:A
                                        Gene:
                                        ADCY10 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.167836520T>A, NC_000001.10:g.167805758T>A, NG_016139.2:g.82614A>T, NG_016139.1:g.82696A>T, NM_018417.6:c.3098A>T, NM_018417.5:c.3098A>T, NM_018417.4:c.3098A>T, NM_001167749.3:c.2639A>T, NM_001167749.2:c.2639A>T, NM_001167749.1:c.2639A>T, NM_001297772.2:c.2822A>T, NM_001297772.1:c.2822A>T, XM_005245330.6:c.3098A>T, XM_005245330.5:c.3098A>T, XM_005245330.4:c.3098A>T, XM_005245330.3:c.3098A>T, XM_005245330.2:c.3098A>T, XM_005245330.1:c.3098A>T, XM_006711449.5:c.3098A>T, XM_006711449.4:c.3098A>T, XM_006711449.3:c.3098A>T, XM_006711449.2:c.3098A>T, XM_006711449.1:c.3098A>T, XM_011509760.4:c.3098A>T, XM_011509760.3:c.3098A>T, XM_011509760.2:c.3098A>T, XM_011509760.1:c.3098A>T, XM_011509762.4:c.2954A>T, XM_011509762.3:c.2954A>T, XM_011509762.2:c.2954A>T, XM_011509762.1:c.2954A>T, XM_011509763.4:c.3098A>T, XM_011509763.3:c.3098A>T, XM_011509763.2:c.3098A>T, XM_011509763.1:c.3098A>T, XM_011509766.4:c.3098A>T, XM_011509766.3:c.3098A>T, XM_011509766.2:c.3098A>T, XM_011509766.1:c.3098A>T, XM_017001778.3:c.3098A>T, XM_017001778.2:c.3098A>T, XM_017001778.1:c.3098A>T, NM_018673.1:c.3098A>T, XM_047425153.1:c.3098A>T, NP_060887.2:p.Lys1033Met, NP_001161221.1:p.Lys880Met, NP_001284701.1:p.Lys941Met, XP_005245387.1:p.Lys1033Met, XP_006711512.1:p.Lys1033Met, XP_011508062.1:p.Lys1033Met, XP_011508064.1:p.Lys985Met, XP_011508065.1:p.Lys1033Met, XP_011508068.1:p.Lys1033Met, XP_016857267.1:p.Lys1033Met, XP_047281109.1:p.Lys1033Met

                                        20.

                                        rs1478891584 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          1:167845575 (GRCh38)
                                          1:167814813 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:167845574:G:A,NC_000001.11:167845574:G:T
                                          Gene:
                                          ADCY10 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          T=0.000007/1 (GnomAD)
                                          A=0.000008/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000001.11:g.167845575G>A, NC_000001.11:g.167845575G>T, NC_000001.10:g.167814813G>A, NC_000001.10:g.167814813G>T, NG_016139.2:g.73559C>T, NG_016139.2:g.73559C>A, NG_016139.1:g.73641C>T, NG_016139.1:g.73641C>A, NM_018417.6:c.2995C>T, NM_018417.6:c.2995C>A, NM_018417.5:c.2995C>T, NM_018417.5:c.2995C>A, NM_018417.4:c.2995C>T, NM_018417.4:c.2995C>A, NM_001167749.3:c.2536C>T, NM_001167749.3:c.2536C>A, NM_001167749.2:c.2536C>T, NM_001167749.2:c.2536C>A, NM_001167749.1:c.2536C>T, NM_001167749.1:c.2536C>A, NM_001297772.2:c.2719C>T, NM_001297772.2:c.2719C>A, NM_001297772.1:c.2719C>T, NM_001297772.1:c.2719C>A, XM_005245330.6:c.2995C>T, XM_005245330.6:c.2995C>A, XM_005245330.5:c.2995C>T, XM_005245330.5:c.2995C>A, XM_005245330.4:c.2995C>T, XM_005245330.4:c.2995C>A, XM_005245330.3:c.2995C>T, XM_005245330.3:c.2995C>A, XM_005245330.2:c.2995C>T, XM_005245330.2:c.2995C>A, XM_005245330.1:c.2995C>T, XM_005245330.1:c.2995C>A, XM_006711449.5:c.2995C>T, XM_006711449.5:c.2995C>A, XM_006711449.4:c.2995C>T, XM_006711449.4:c.2995C>A, XM_006711449.3:c.2995C>T, XM_006711449.3:c.2995C>A, XM_006711449.2:c.2995C>T, XM_006711449.2:c.2995C>A, XM_006711449.1:c.2995C>T, XM_006711449.1:c.2995C>A, XM_011509760.4:c.2995C>T, XM_011509760.4:c.2995C>A, XM_011509760.3:c.2995C>T, XM_011509760.3:c.2995C>A, XM_011509760.2:c.2995C>T, XM_011509760.2:c.2995C>A, XM_011509760.1:c.2995C>T, XM_011509760.1:c.2995C>A, XM_011509762.4:c.2851C>T, XM_011509762.4:c.2851C>A, XM_011509762.3:c.2851C>T, XM_011509762.3:c.2851C>A, XM_011509762.2:c.2851C>T, XM_011509762.2:c.2851C>A, XM_011509762.1:c.2851C>T, XM_011509762.1:c.2851C>A, XM_011509763.4:c.2995C>T, XM_011509763.4:c.2995C>A, XM_011509763.3:c.2995C>T, XM_011509763.3:c.2995C>A, XM_011509763.2:c.2995C>T, XM_011509763.2:c.2995C>A, XM_011509763.1:c.2995C>T, XM_011509763.1:c.2995C>A, XM_011509766.4:c.2995C>T, XM_011509766.4:c.2995C>A, XM_011509766.3:c.2995C>T, XM_011509766.3:c.2995C>A, XM_011509766.2:c.2995C>T, XM_011509766.2:c.2995C>A, XM_011509766.1:c.2995C>T, XM_011509766.1:c.2995C>A, XM_017001778.3:c.2995C>T, XM_017001778.3:c.2995C>A, XM_017001778.2:c.2995C>T, XM_017001778.2:c.2995C>A, XM_017001778.1:c.2995C>T, XM_017001778.1:c.2995C>A, NM_018673.1:c.2995C>T, NM_018673.1:c.2995C>A, XM_047425153.1:c.2995C>T, XM_047425153.1:c.2995C>A, NP_060887.2:p.His999Tyr, NP_060887.2:p.His999Asn, NP_001161221.1:p.His846Tyr, NP_001161221.1:p.His846Asn, NP_001284701.1:p.His907Tyr, NP_001284701.1:p.His907Asn, XP_005245387.1:p.His999Tyr, XP_005245387.1:p.His999Asn, XP_006711512.1:p.His999Tyr, XP_006711512.1:p.His999Asn, XP_011508062.1:p.His999Tyr, XP_011508062.1:p.His999Asn, XP_011508064.1:p.His951Tyr, XP_011508064.1:p.His951Asn, XP_011508065.1:p.His999Tyr, XP_011508065.1:p.His999Asn, XP_011508068.1:p.His999Tyr, XP_011508068.1:p.His999Asn, XP_016857267.1:p.His999Tyr, XP_016857267.1:p.His999Asn, XP_047281109.1:p.His999Tyr, XP_047281109.1:p.His999Asn

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