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Items: 1 to 20 of 447

1.

rs1490818087 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    2:203239100 (GRCh38)
    2:204103823 (GRCh37)
    Canonical SPDI:
    NC_000002.12:203239099:T:C
    Gene:
    CYP20A1 (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:

    2.

    rs1489086015 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      2:203285702 (GRCh38)
      2:204150425 (GRCh37)
      Canonical SPDI:
      NC_000002.12:203285701:C:T
      Gene:
      CYP20A1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000002.12:g.203285702C>T, NC_000002.11:g.204150425C>T, NG_007956.1:g.52262C>T, NM_177538.3:c.941C>T, NM_177538.2:c.941C>T, NM_001371698.1:c.635C>T, NM_001371705.1:c.257C>T, NM_001371695.1:c.965C>T, NM_001371706.1:c.257C>T, NR_163985.1:n.986C>T, NM_001371697.1:c.635C>T, NM_001371696.1:c.635C>T, NM_001371702.1:c.257C>T, NM_001371699.1:c.440C>T, NM_001371703.1:c.257C>T, NM_001371704.1:c.257C>T, NR_163984.1:n.740C>T, NM_001371701.1:c.440C>T, NM_001371700.1:c.440C>T, NM_020674.2:c.*235C>T, NM_020674.1:c.860C>T, NP_803882.1:p.Pro314Leu, NP_001358627.1:p.Pro212Leu, NP_001358634.1:p.Pro86Leu, NP_001358624.1:p.Pro322Leu, NP_001358635.1:p.Pro86Leu, NP_001358626.1:p.Pro212Leu, NP_001358625.1:p.Pro212Leu, NP_001358631.1:p.Pro86Leu, NP_001358628.1:p.Pro147Leu, NP_001358632.1:p.Pro86Leu, NP_001358633.1:p.Pro86Leu, NP_001358630.1:p.Pro147Leu, NP_001358629.1:p.Pro147Leu

      3.

      rs1488757967 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        2:203246755 (GRCh38)
        2:204111478 (GRCh37)
        Canonical SPDI:
        NC_000002.12:203246754:A:T
        Gene:
        CYP20A1 (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.0002/1 (ALFA)
        T=0.0002/1 (Estonian)
        HGVS:

        4.

        rs1486309631 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          2:203296766 (GRCh38)
          2:204161489 (GRCh37)
          Canonical SPDI:
          NC_000002.12:203296765:A:G
          Gene:
          CYP20A1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by cluster
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000002.12:g.203296766A>G, NC_000002.11:g.204161489A>G, NG_007956.1:g.63326A>G, NM_177538.3:c.1247A>G, NM_177538.2:c.1247A>G, NM_001371698.1:c.941A>G, NM_001371705.1:c.563A>G, NM_001371695.1:c.1271A>G, NM_001371706.1:c.563A>G, NR_163985.1:n.1180A>G, NR_163981.1:n.1171A>G, NM_001371697.1:c.941A>G, NR_163982.1:n.1092A>G, NM_001371696.1:c.941A>G, NM_001371702.1:c.563A>G, NM_001371699.1:c.746A>G, NM_001371703.1:c.563A>G, NM_001371704.1:c.563A>G, NR_163984.1:n.934A>G, NM_001371701.1:c.746A>G, NM_001371700.1:c.746A>G, NR_163983.1:n.875A>G, NM_020674.2:c.*541A>G, NM_020674.1:c.1166A>G, NP_803882.1:p.Tyr416Cys, NP_001358627.1:p.Tyr314Cys, NP_001358634.1:p.Tyr188Cys, NP_001358624.1:p.Tyr424Cys, NP_001358635.1:p.Tyr188Cys, NP_001358626.1:p.Tyr314Cys, NP_001358625.1:p.Tyr314Cys, NP_001358631.1:p.Tyr188Cys, NP_001358628.1:p.Tyr249Cys, NP_001358632.1:p.Tyr188Cys, NP_001358633.1:p.Tyr188Cys, NP_001358630.1:p.Tyr249Cys, NP_001358629.1:p.Tyr249Cys

          5.

          rs1480039443 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            2:203251968 (GRCh38)
            2:204116691 (GRCh37)
            Canonical SPDI:
            NC_000002.12:203251967:G:A
            Gene:
            CYP20A1 (Varview)
            Functional Consequence:
            synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000028/1 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000009/2 (GnomAD_exomes)
            A=0.000011/3 (TOPMED)
            HGVS:

            6.

            rs1477421647 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              2:203296791 (GRCh38)
              2:204161514 (GRCh37)
              Canonical SPDI:
              NC_000002.12:203296790:T:C
              Gene:
              CYP20A1 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000004/1 (TOPMED)
              HGVS:

              7.

              rs1476733514 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                TGGGAGC>- [Show Flanks]
                Chromosome:
                2:203239109 (GRCh38)
                2:204103832 (GRCh37)
                Canonical SPDI:
                NC_000002.12:203239108:TGGGAGC:
                Gene:
                CYP20A1 (Varview)
                Functional Consequence:
                frameshift_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0./0 (ALFA)
                -=0.000004/1 (GnomAD_exomes)
                -=0.000008/2 (TOPMED)
                HGVS:

                8.

                rs1472797095 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  GGAA>- [Show Flanks]
                  Chromosome:
                  2:203278627 (GRCh38)
                  2:204143350 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:203278620:AAGGAAGGAA:AAGGAA
                  Gene:
                  CYP20A1 (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
                  HGVS:
                  NC_000002.12:g.203278623GGAA[1], NC_000002.11:g.204143346GGAA[1], NG_007956.1:g.45183GGAA[1], NM_177538.3:c.734_737del, NM_177538.2:c.734_737del, NM_001371698.1:c.428_431del, NM_001371705.1:c.50_53del, NM_001371695.1:c.758_761del, NM_001371706.1:c.50_53del, NR_163985.1:n.775GGAA[1], NR_163981.1:n.775GGAA[1], NM_001371697.1:c.428_431del, NR_163982.1:n.696GGAA[1], NM_001371696.1:c.428_431del, NM_001371702.1:c.50_53del, NM_001371699.1:c.233_236del, NM_001371703.1:c.50_53del, NM_001371704.1:c.50_53del, NR_163984.1:n.529GGAA[1], NR_163983.1:n.479GGAA[1], NM_020674.2:c.*24GGAA[1], NM_020674.1:c.654_657del, NP_803882.1:p.Arg245fs, NP_001358627.1:p.Arg143fs, NP_001358634.1:p.Arg17fs, NP_001358624.1:p.Arg253fs, NP_001358635.1:p.Arg17fs, NP_001358626.1:p.Arg143fs, NP_001358625.1:p.Arg143fs, NP_001358631.1:p.Arg17fs, NP_001358628.1:p.Arg78fs, NP_001358632.1:p.Arg17fs, NP_001358633.1:p.Arg17fs

                  9.

                  rs1471473488 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    2:203266629 (GRCh38)
                    2:204131352 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:203266628:G:A
                    Gene:
                    CYP20A1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000002.12:g.203266629G>A, NC_000002.11:g.204131352G>A, NG_007956.1:g.33189G>A, NM_177538.3:c.548G>A, NM_177538.2:c.548G>A, NM_001371698.1:c.242G>A, NM_001371705.1:c.-58G>A, NM_001371695.1:c.548G>A, NM_001371706.1:c.-58G>A, NR_163985.1:n.593G>A, NR_163981.1:n.593G>A, NM_001371697.1:c.242G>A, NR_163982.1:n.593G>A, NM_001371696.1:c.242G>A, NM_001371702.1:c.-58G>A, NM_001371699.1:c.47G>A, NM_001371703.1:c.-58G>A, NM_001371704.1:c.-58G>A, NR_163984.1:n.426G>A, NM_001371701.1:c.242G>A, NM_001371700.1:c.242G>A, NR_163983.1:n.376G>A, NM_020674.2:c.548G>A, XM_047445157.1:c.548G>A, NM_020674.1:c.548G>A, NP_803882.1:p.Ser183Asn, NP_001358627.1:p.Ser81Asn, NP_001358624.1:p.Ser183Asn, NP_001358626.1:p.Ser81Asn, NP_001358625.1:p.Ser81Asn, NP_001358628.1:p.Ser16Asn, NP_001358630.1:p.Ser81Asn, NP_001358629.1:p.Ser81Asn, XP_047301113.1:p.Ser183Asn

                    10.

                    rs1469031933 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      2:203285684 (GRCh38)
                      2:204150407 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:203285683:A:G
                      Gene:
                      CYP20A1 (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000002.12:g.203285684A>G, NC_000002.11:g.204150407A>G, NG_007956.1:g.52244A>G, NM_177538.3:c.923A>G, NM_177538.2:c.923A>G, NM_001371698.1:c.617A>G, NM_001371705.1:c.239A>G, NM_001371695.1:c.947A>G, NM_001371706.1:c.239A>G, NR_163985.1:n.968A>G, NM_001371697.1:c.617A>G, NM_001371696.1:c.617A>G, NM_001371702.1:c.239A>G, NM_001371699.1:c.422A>G, NM_001371703.1:c.239A>G, NM_001371704.1:c.239A>G, NR_163984.1:n.722A>G, NM_001371701.1:c.422A>G, NM_001371700.1:c.422A>G, NM_020674.2:c.*217A>G, NM_020674.1:c.842A>G, NP_803882.1:p.Gln308Arg, NP_001358627.1:p.Gln206Arg, NP_001358634.1:p.Gln80Arg, NP_001358624.1:p.Gln316Arg, NP_001358635.1:p.Gln80Arg, NP_001358626.1:p.Gln206Arg, NP_001358625.1:p.Gln206Arg, NP_001358631.1:p.Gln80Arg, NP_001358628.1:p.Gln141Arg, NP_001358632.1:p.Gln80Arg, NP_001358633.1:p.Gln80Arg, NP_001358630.1:p.Gln141Arg, NP_001358629.1:p.Gln141Arg

                      11.

                      rs1466886926 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        2:203272716 (GRCh38)
                        2:204137439 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:203272715:A:G
                        Gene:
                        CYP20A1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000071/1 (ALFA)
                        G=0.000007/1 (GnomAD)
                        G=0.000011/3 (TOPMED)
                        HGVS:

                        12.

                        rs1466186590 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          2:203252098 (GRCh38)
                          2:204116821 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:203252097:C:T
                          Gene:
                          CYP20A1 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1461011641 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            2:203266587 (GRCh38)
                            2:204131310 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:203266586:T:C
                            Gene:
                            CYP20A1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.203266587T>C, NC_000002.11:g.204131310T>C, NG_007956.1:g.33147T>C, NM_177538.3:c.506T>C, NM_177538.2:c.506T>C, NM_001371698.1:c.200T>C, NM_001371705.1:c.-100T>C, NM_001371695.1:c.506T>C, NM_001371706.1:c.-100T>C, NR_163985.1:n.551T>C, NR_163981.1:n.551T>C, NM_001371697.1:c.200T>C, NR_163982.1:n.551T>C, NM_001371696.1:c.200T>C, NM_001371702.1:c.-100T>C, NM_001371699.1:c.5T>C, NM_001371703.1:c.-100T>C, NM_001371704.1:c.-100T>C, NR_163984.1:n.384T>C, NM_001371701.1:c.200T>C, NM_001371700.1:c.200T>C, NR_163983.1:n.334T>C, NM_020674.2:c.506T>C, XM_047445157.1:c.506T>C, NM_020674.1:c.506T>C, NP_803882.1:p.Leu169Pro, NP_001358627.1:p.Leu67Pro, NP_001358624.1:p.Leu169Pro, NP_001358626.1:p.Leu67Pro, NP_001358625.1:p.Leu67Pro, NP_001358628.1:p.Leu2Pro, NP_001358630.1:p.Leu67Pro, NP_001358629.1:p.Leu67Pro, XP_047301113.1:p.Leu169Pro

                            14.

                            rs1456868583 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              2:203289869 (GRCh38)
                              2:204154592 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:203289868:C:T
                              Gene:
                              CYP20A1 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000002.12:g.203289869C>T, NC_000002.11:g.204154592C>T, NG_007956.1:g.56429C>T, NM_177538.3:c.1076C>T, NM_177538.2:c.1076C>T, NM_001371698.1:c.770C>T, NM_001371705.1:c.392C>T, NM_001371695.1:c.1100C>T, NM_001371706.1:c.392C>T, NR_163981.1:n.1000C>T, NM_001371697.1:c.770C>T, NR_163982.1:n.921C>T, NM_001371696.1:c.770C>T, NM_001371702.1:c.392C>T, NM_001371699.1:c.575C>T, NM_001371703.1:c.392C>T, NM_001371704.1:c.392C>T, NM_001371701.1:c.575C>T, NM_001371700.1:c.575C>T, NR_163983.1:n.704C>T, NM_020674.2:c.*370C>T, XM_047445157.1:c.*58C>T, NM_020674.1:c.995C>T, NP_803882.1:p.Pro359Leu, NP_001358627.1:p.Pro257Leu, NP_001358634.1:p.Pro131Leu, NP_001358624.1:p.Pro367Leu, NP_001358635.1:p.Pro131Leu, NP_001358626.1:p.Pro257Leu, NP_001358625.1:p.Pro257Leu, NP_001358631.1:p.Pro131Leu, NP_001358628.1:p.Pro192Leu, NP_001358632.1:p.Pro131Leu, NP_001358633.1:p.Pro131Leu, NP_001358630.1:p.Pro192Leu, NP_001358629.1:p.Pro192Leu

                              15.

                              rs1456787741 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                2:203246809 (GRCh38)
                                2:204111532 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:203246808:T:G
                                Gene:
                                CYP20A1 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:

                                16.

                                rs1448840746 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  2:203292302 (GRCh38)
                                  2:204157025 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:203292301:C:T
                                  Gene:
                                  CYP20A1 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000002.12:g.203292302C>T, NC_000002.11:g.204157025C>T, NG_007956.1:g.58862C>T, NM_177538.3:c.1124C>T, NM_177538.2:c.1124C>T, NM_001371698.1:c.818C>T, NM_001371705.1:c.440C>T, NM_001371695.1:c.1148C>T, NM_001371706.1:c.440C>T, NR_163985.1:n.1057C>T, NR_163981.1:n.1048C>T, NM_001371697.1:c.818C>T, NR_163982.1:n.969C>T, NM_001371696.1:c.818C>T, NM_001371702.1:c.440C>T, NM_001371699.1:c.623C>T, NM_001371703.1:c.440C>T, NM_001371704.1:c.440C>T, NR_163984.1:n.811C>T, NM_001371701.1:c.623C>T, NM_001371700.1:c.623C>T, NR_163983.1:n.752C>T, NM_020674.2:c.*418C>T, NM_020674.1:c.1043C>T, NP_803882.1:p.Pro375Leu, NP_001358627.1:p.Pro273Leu, NP_001358634.1:p.Pro147Leu, NP_001358624.1:p.Pro383Leu, NP_001358635.1:p.Pro147Leu, NP_001358626.1:p.Pro273Leu, NP_001358625.1:p.Pro273Leu, NP_001358631.1:p.Pro147Leu, NP_001358628.1:p.Pro208Leu, NP_001358632.1:p.Pro147Leu, NP_001358633.1:p.Pro147Leu, NP_001358630.1:p.Pro208Leu, NP_001358629.1:p.Pro208Leu

                                  17.

                                  rs1445738560 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    2:203266547 (GRCh38)
                                    2:204131270 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:203266546:T:C
                                    Gene:
                                    CYP20A1 (Varview)
                                    Functional Consequence:
                                    missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000002.12:g.203266547T>C, NC_000002.11:g.204131270T>C, NG_007956.1:g.33107T>C, NM_177538.3:c.466T>C, NM_177538.2:c.466T>C, NM_001371698.1:c.160T>C, NM_001371705.1:c.-140T>C, NM_001371695.1:c.466T>C, NM_001371706.1:c.-140T>C, NR_163985.1:n.511T>C, NR_163981.1:n.511T>C, NM_001371697.1:c.160T>C, NR_163982.1:n.511T>C, NM_001371696.1:c.160T>C, NM_001371702.1:c.-140T>C, NM_001371699.1:c.-36T>C, NM_001371703.1:c.-140T>C, NM_001371704.1:c.-140T>C, NR_163984.1:n.344T>C, NM_001371701.1:c.160T>C, NM_001371700.1:c.160T>C, NR_163983.1:n.294T>C, NM_020674.2:c.466T>C, XM_047445157.1:c.466T>C, NM_020674.1:c.466T>C, NP_803882.1:p.Tyr156His, NP_001358627.1:p.Tyr54His, NP_001358624.1:p.Tyr156His, NP_001358626.1:p.Tyr54His, NP_001358625.1:p.Tyr54His, NP_001358630.1:p.Tyr54His, NP_001358629.1:p.Tyr54His, XP_047301113.1:p.Tyr156His

                                    18.

                                    rs1445249108 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      2:203245880 (GRCh38)
                                      2:204110603 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:203245879:C:T
                                      Gene:
                                      CYP20A1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:

                                      19.

                                      rs1444541985 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        2:203280088 (GRCh38)
                                        2:204144811 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:203280087:G:A
                                        Gene:
                                        CYP20A1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1444339561 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          2:203266663 (GRCh38)
                                          2:204131386 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:203266662:C:G
                                          Gene:
                                          CYP20A1 (Varview)
                                          Functional Consequence:
                                          missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000002.12:g.203266663C>G, NC_000002.11:g.204131386C>G, NG_007956.1:g.33223C>G, NM_177538.3:c.582C>G, NM_177538.2:c.582C>G, NM_001371698.1:c.276C>G, NM_001371705.1:c.-24C>G, NM_001371695.1:c.582C>G, NM_001371706.1:c.-24C>G, NR_163985.1:n.627C>G, NR_163981.1:n.627C>G, NM_001371697.1:c.276C>G, NR_163982.1:n.627C>G, NM_001371696.1:c.276C>G, NM_001371702.1:c.-24C>G, NM_001371699.1:c.81C>G, NM_001371703.1:c.-24C>G, NM_001371704.1:c.-24C>G, NR_163984.1:n.460C>G, NM_001371701.1:c.276C>G, NM_001371700.1:c.276C>G, NR_163983.1:n.410C>G, NM_020674.2:c.582C>G, XM_047445157.1:c.582C>G, NM_020674.1:c.582C>G, NP_803882.1:p.Phe194Leu, NP_001358627.1:p.Phe92Leu, NP_001358624.1:p.Phe194Leu, NP_001358626.1:p.Phe92Leu, NP_001358625.1:p.Phe92Leu, NP_001358628.1:p.Phe27Leu, NP_001358630.1:p.Phe92Leu, NP_001358629.1:p.Phe92Leu, XP_047301113.1:p.Phe194Leu

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