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Items: 1 to 20 of 341

1.

rs1488030655 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    9:105464315 (GRCh38)
    9:108226596 (GRCh37)
    Canonical SPDI:
    NC_000009.12:105464314:C:T
    Gene:
    FSD1L (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
    Validated:
    by frequency
    MAF:
    T=0.000008/1 (GnomAD_exomes)
    HGVS:
    NC_000009.12:g.105464315C>T, NC_000009.11:g.108226596C>T, NM_031919.5:c.95C>T, NM_031919.4:c.95C>T, NM_031919.3:c.95C>T, XM_005252254.3:c.191C>T, XM_005252254.2:c.191C>T, XM_005252254.1:c.191C>T, NM_001145313.3:c.191C>T, NM_001145313.2:c.191C>T, NM_001145313.1:c.191C>T, XM_011519077.3:c.209C>T, XM_011519077.2:c.209C>T, XM_011519077.1:c.209C>T, XM_011519078.3:c.230C>T, XM_011519078.2:c.230C>T, XM_011519078.1:c.221C>T, XM_011519079.3:c.230C>T, XM_011519079.2:c.230C>T, XM_011519079.1:c.221C>T, XM_017015182.2:c.191C>T, XM_017015182.1:c.191C>T, NM_001330739.2:c.95C>T, NM_001330739.1:c.95C>T, NM_001287191.2:c.95C>T, NM_001287191.1:c.95C>T, XM_017015183.2:c.95C>T, XM_017015183.1:c.95C>T, NM_001287192.2:c.95C>T, NM_001287192.1:c.95C>T, XM_017015185.2:c.230C>T, XM_017015185.1:c.230C>T, XM_017015187.2:c.95C>T, XM_017015187.1:c.95C>T, NM_207647.2:c.95C>T, XM_047423949.1:c.191C>T, NP_114125.1:p.Thr32Ile, XP_005252311.1:p.Thr64Ile, NP_001138785.1:p.Thr64Ile, XP_011517379.1:p.Thr70Ile, XP_011517380.2:p.Thr77Ile, XP_011517381.2:p.Thr77Ile, XP_016870671.1:p.Thr64Ile, NP_001317668.1:p.Thr32Ile, NP_001274120.1:p.Thr32Ile, XP_016870672.1:p.Thr32Ile, NP_001274121.1:p.Thr32Ile, XP_016870674.1:p.Thr77Ile, XP_016870676.1:p.Thr32Ile, XP_047279905.1:p.Thr64Ile

    2.

    rs1487819372 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      9:105534525 (GRCh38)
      9:108296806 (GRCh37)
      Canonical SPDI:
      NC_000009.12:105534524:T:C
      Gene:
      FSD1L (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000008/2 (TOPMED)
      HGVS:
      NC_000009.12:g.105534525T>C, NC_000009.11:g.108296806T>C, XM_005252254.3:c.1091T>C, XM_005252254.2:c.1091T>C, XM_005252254.1:c.1091T>C, NM_001145313.3:c.1058T>C, NM_001145313.2:c.1058T>C, NM_001145313.1:c.1058T>C, XM_011519077.3:c.1109T>C, XM_011519077.2:c.1109T>C, XM_011519077.1:c.1109T>C, XM_011519078.3:c.1097T>C, XM_011519078.2:c.1097T>C, XM_011519078.1:c.1088T>C, XM_011519079.3:c.1094T>C, XM_011519079.2:c.1094T>C, XM_011519079.1:c.1085T>C, XM_011519080.3:c.434T>C, XM_011519080.2:c.434T>C, XM_011519080.1:c.434T>C, XM_017015182.2:c.1055T>C, XM_017015182.1:c.1055T>C, NM_001330739.2:c.995T>C, NM_001330739.1:c.995T>C, NM_001287191.2:c.992T>C, NM_001287191.1:c.992T>C, XM_017015183.2:c.962T>C, XM_017015183.1:c.962T>C, NM_001287192.2:c.959T>C, NM_001287192.1:c.959T>C, XM_017015184.2:c.620T>C, XM_017015184.1:c.620T>C, NM_207647.2:c.962T>C, XM_047423948.1:c.620T>C, XP_005252311.1:p.Val364Ala, NP_001138785.1:p.Val353Ala, XP_011517379.1:p.Val370Ala, XP_011517380.2:p.Val366Ala, XP_011517381.2:p.Val365Ala, XP_011517382.1:p.Val145Ala, XP_016870671.1:p.Val352Ala, NP_001317668.1:p.Val332Ala, NP_001274120.1:p.Val331Ala, XP_016870672.1:p.Val321Ala, NP_001274121.1:p.Val320Ala, XP_016870673.1:p.Val207Ala, XP_047279904.1:p.Val207Ala

      3.

      rs1487156153 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        9:105535173 (GRCh38)
        9:108297454 (GRCh37)
        Canonical SPDI:
        NC_000009.12:105535172:C:T
        Gene:
        FSD1L (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency
        MAF:
        T=0.000006/1 (GnomAD_exomes)
        HGVS:
        NC_000009.12:g.105535173C>T, NC_000009.11:g.108297454C>T, XM_005252254.3:c.1266C>T, XM_005252254.2:c.1266C>T, XM_005252254.1:c.1266C>T, NM_001145313.3:c.1233C>T, NM_001145313.2:c.1233C>T, NM_001145313.1:c.1233C>T, XM_011519077.3:c.1284C>T, XM_011519077.2:c.1284C>T, XM_011519077.1:c.1284C>T, XM_011519078.3:c.1272C>T, XM_011519078.2:c.1272C>T, XM_011519078.1:c.1263C>T, XM_011519079.3:c.1269C>T, XM_011519079.2:c.1269C>T, XM_011519079.1:c.1260C>T, XM_011519080.3:c.609C>T, XM_011519080.2:c.609C>T, XM_011519080.1:c.609C>T, XM_017015182.2:c.1230C>T, XM_017015182.1:c.1230C>T, NM_001330739.2:c.1170C>T, NM_001330739.1:c.1170C>T, NM_001287191.2:c.1167C>T, NM_001287191.1:c.1167C>T, XM_017015183.2:c.1137C>T, XM_017015183.1:c.1137C>T, NM_001287192.2:c.1134C>T, NM_001287192.1:c.1134C>T, XM_017015184.2:c.795C>T, XM_017015184.1:c.795C>T, NM_207647.2:c.1137C>T, XM_047423948.1:c.795C>T

        4.

        rs1485391628 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C,T [Show Flanks]
          Chromosome:
          9:105546358 (GRCh38)
          9:108308639 (GRCh37)
          Canonical SPDI:
          NC_000009.12:105546357:G:C,NC_000009.12:105546357:G:T
          Gene:
          FSD1L (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
          Validated:
          by frequency,by cluster
          MAF:
          T=0.000007/1 (GnomAD)
          C=0.000007/1 (GnomAD_exomes)
          HGVS:
          NC_000009.12:g.105546358G>C, NC_000009.12:g.105546358G>T, NC_000009.11:g.108308639G>C, NC_000009.11:g.108308639G>T, XM_005252254.3:c.1501G>C, XM_005252254.3:c.1501G>T, XM_005252254.2:c.1501G>C, XM_005252254.2:c.1501G>T, XM_005252254.1:c.1501G>C, XM_005252254.1:c.1501G>T, NM_001145313.3:c.1468G>C, NM_001145313.3:c.1468G>T, NM_001145313.2:c.1468G>C, NM_001145313.2:c.1468G>T, NM_001145313.1:c.1468G>C, NM_001145313.1:c.1468G>T, XM_011519077.3:c.1519G>C, XM_011519077.3:c.1519G>T, XM_011519077.2:c.1519G>C, XM_011519077.2:c.1519G>T, XM_011519077.1:c.1519G>C, XM_011519077.1:c.1519G>T, XM_011519078.3:c.1507G>C, XM_011519078.3:c.1507G>T, XM_011519078.2:c.1507G>C, XM_011519078.2:c.1507G>T, XM_011519078.1:c.1498G>C, XM_011519078.1:c.1498G>T, XM_011519079.3:c.1504G>C, XM_011519079.3:c.1504G>T, XM_011519079.2:c.1504G>C, XM_011519079.2:c.1504G>T, XM_011519079.1:c.1495G>C, XM_011519079.1:c.1495G>T, XM_011519080.3:c.844G>C, XM_011519080.3:c.844G>T, XM_011519080.2:c.844G>C, XM_011519080.2:c.844G>T, XM_011519080.1:c.844G>C, XM_011519080.1:c.844G>T, XM_017015182.2:c.1465G>C, XM_017015182.2:c.1465G>T, XM_017015182.1:c.1465G>C, XM_017015182.1:c.1465G>T, NM_001330739.2:c.1405G>C, NM_001330739.2:c.1405G>T, NM_001330739.1:c.1405G>C, NM_001330739.1:c.1405G>T, NM_001287191.2:c.1402G>C, NM_001287191.2:c.1402G>T, NM_001287191.1:c.1402G>C, NM_001287191.1:c.1402G>T, XM_017015183.2:c.1372G>C, XM_017015183.2:c.1372G>T, XM_017015183.1:c.1372G>C, XM_017015183.1:c.1372G>T, NM_001287192.2:c.1369G>C, NM_001287192.2:c.1369G>T, NM_001287192.1:c.1369G>C, NM_001287192.1:c.1369G>T, XM_017015185.2:c.1065G>C, XM_017015185.2:c.1065G>T, XM_017015185.1:c.1065G>C, XM_017015185.1:c.1065G>T, XM_017015187.2:c.930G>C, XM_017015187.2:c.930G>T, XM_017015187.1:c.930G>C, XM_017015187.1:c.930G>T, XM_017015184.2:c.1030G>C, XM_017015184.2:c.1030G>T, XM_017015184.1:c.1030G>C, XM_017015184.1:c.1030G>T, NM_207647.2:c.1372G>C, NM_207647.2:c.1372G>T, XM_047423949.1:c.1026G>C, XM_047423949.1:c.1026G>T, XM_047423948.1:c.1030G>C, XM_047423948.1:c.1030G>T, XP_005252311.1:p.Val501Leu, XP_005252311.1:p.Val501Leu, NP_001138785.1:p.Val490Leu, NP_001138785.1:p.Val490Leu, XP_011517379.1:p.Val507Leu, XP_011517379.1:p.Val507Leu, XP_011517380.2:p.Val503Leu, XP_011517380.2:p.Val503Leu, XP_011517381.2:p.Val502Leu, XP_011517381.2:p.Val502Leu, XP_011517382.1:p.Val282Leu, XP_011517382.1:p.Val282Leu, XP_016870671.1:p.Val489Leu, XP_016870671.1:p.Val489Leu, NP_001317668.1:p.Val469Leu, NP_001317668.1:p.Val469Leu, NP_001274120.1:p.Val468Leu, NP_001274120.1:p.Val468Leu, XP_016870672.1:p.Val458Leu, XP_016870672.1:p.Val458Leu, NP_001274121.1:p.Val457Leu, NP_001274121.1:p.Val457Leu, XP_016870674.1:p.Arg355Ser, XP_016870674.1:p.Arg355Ser, XP_016870676.1:p.Arg310Ser, XP_016870676.1:p.Arg310Ser, XP_016870673.1:p.Val344Leu, XP_016870673.1:p.Val344Leu, XP_047279905.1:p.Arg342Ser, XP_047279905.1:p.Arg342Ser, XP_047279904.1:p.Val344Leu, XP_047279904.1:p.Val344Leu

          5.

          rs1484933389 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            9:105535232 (GRCh38)
            9:108297513 (GRCh37)
            Canonical SPDI:
            NC_000009.12:105535231:C:T
            Gene:
            FSD1L (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000032/5 (GnomAD_exomes)
            T=0.000057/15 (TOPMED)
            T=0.000093/13 (GnomAD)
            HGVS:
            NC_000009.12:g.105535232C>T, NC_000009.11:g.108297513C>T, XM_005252254.3:c.1325C>T, XM_005252254.2:c.1325C>T, XM_005252254.1:c.1325C>T, NM_001145313.3:c.1292C>T, NM_001145313.2:c.1292C>T, NM_001145313.1:c.1292C>T, XM_011519077.3:c.1343C>T, XM_011519077.2:c.1343C>T, XM_011519077.1:c.1343C>T, XM_011519078.3:c.1331C>T, XM_011519078.2:c.1331C>T, XM_011519078.1:c.1322C>T, XM_011519079.3:c.1328C>T, XM_011519079.2:c.1328C>T, XM_011519079.1:c.1319C>T, XM_011519080.3:c.668C>T, XM_011519080.2:c.668C>T, XM_011519080.1:c.668C>T, XM_017015182.2:c.1289C>T, XM_017015182.1:c.1289C>T, NM_001330739.2:c.1229C>T, NM_001330739.1:c.1229C>T, NM_001287191.2:c.1226C>T, NM_001287191.1:c.1226C>T, XM_017015183.2:c.1196C>T, XM_017015183.1:c.1196C>T, NM_001287192.2:c.1193C>T, NM_001287192.1:c.1193C>T, XM_017015184.2:c.854C>T, XM_017015184.1:c.854C>T, NM_207647.2:c.1196C>T, XM_047423948.1:c.854C>T, XP_005252311.1:p.Thr442Ile, NP_001138785.1:p.Thr431Ile, XP_011517379.1:p.Thr448Ile, XP_011517380.2:p.Thr444Ile, XP_011517381.2:p.Thr443Ile, XP_011517382.1:p.Thr223Ile, XP_016870671.1:p.Thr430Ile, NP_001317668.1:p.Thr410Ile, NP_001274120.1:p.Thr409Ile, XP_016870672.1:p.Thr399Ile, NP_001274121.1:p.Thr398Ile, XP_016870673.1:p.Thr285Ile, XP_047279904.1:p.Thr285Ile

            6.

            rs1482578744 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              9:105508696 (GRCh38)
              9:108270977 (GRCh37)
              Canonical SPDI:
              NC_000009.12:105508695:A:G
              Gene:
              FSD1L (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
              Validated:
              by frequency
              MAF:
              G=0.000025/4 (GnomAD_exomes)
              HGVS:
              NC_000009.12:g.105508696A>G, NC_000009.11:g.108270977A>G, XM_005252254.3:c.876A>G, XM_005252254.2:c.876A>G, XM_005252254.1:c.876A>G, NM_001145313.3:c.876A>G, NM_001145313.2:c.876A>G, NM_001145313.1:c.876A>G, XM_011519077.3:c.894A>G, XM_011519077.2:c.894A>G, XM_011519077.1:c.894A>G, XM_011519078.3:c.915A>G, XM_011519078.2:c.915A>G, XM_011519078.1:c.906A>G, XM_011519079.3:c.915A>G, XM_011519079.2:c.915A>G, XM_011519079.1:c.906A>G, XM_011519080.3:c.219A>G, XM_011519080.2:c.219A>G, XM_011519080.1:c.219A>G, XM_017015182.2:c.876A>G, XM_017015182.1:c.876A>G, NM_001330739.2:c.780A>G, NM_001330739.1:c.780A>G, NM_001287191.2:c.780A>G, NM_001287191.1:c.780A>G, XM_017015183.2:c.780A>G, XM_017015183.1:c.780A>G, NM_001287192.2:c.780A>G, NM_001287192.1:c.780A>G, XM_017015185.2:c.915A>G, XM_017015185.1:c.915A>G, XM_017015187.2:c.780A>G, XM_017015187.1:c.780A>G, XM_017015184.2:c.405A>G, XM_017015184.1:c.405A>G, NM_207647.2:c.780A>G, XM_047423949.1:c.876A>G, XM_047423948.1:c.405A>G

              7.

              rs1481429526 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                9:105512866 (GRCh38)
                9:108275147 (GRCh37)
                Canonical SPDI:
                NC_000009.12:105512865:T:C
                Gene:
                FSD1L (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                Validated:
                by frequency
                MAF:
                C=0.000007/1 (GnomAD_exomes)
                HGVS:
                NC_000009.12:g.105512866T>C, NC_000009.11:g.108275147T>C, XM_005252254.3:c.955T>C, XM_005252254.2:c.955T>C, XM_005252254.1:c.955T>C, NM_001145313.3:c.955T>C, NM_001145313.2:c.955T>C, NM_001145313.1:c.955T>C, XM_011519077.3:c.973T>C, XM_011519077.2:c.973T>C, XM_011519077.1:c.973T>C, XM_011519078.3:c.994T>C, XM_011519078.2:c.994T>C, XM_011519078.1:c.985T>C, XM_011519079.3:c.994T>C, XM_011519079.2:c.994T>C, XM_011519079.1:c.985T>C, XM_011519080.3:c.298T>C, XM_011519080.2:c.298T>C, XM_011519080.1:c.298T>C, XM_017015182.2:c.955T>C, XM_017015182.1:c.955T>C, NM_001330739.2:c.859T>C, NM_001330739.1:c.859T>C, NM_001287191.2:c.859T>C, NM_001287191.1:c.859T>C, XM_017015183.2:c.859T>C, XM_017015183.1:c.859T>C, NM_001287192.2:c.859T>C, NM_001287192.1:c.859T>C, XM_017015185.2:c.994T>C, XM_017015185.1:c.994T>C, XM_017015187.2:c.859T>C, XM_017015187.1:c.859T>C, XM_017015184.2:c.484T>C, XM_017015184.1:c.484T>C, NM_207647.2:c.859T>C, XM_047423949.1:c.955T>C, XM_047423948.1:c.484T>C, XP_005252311.1:p.Cys319Arg, NP_001138785.1:p.Cys319Arg, XP_011517379.1:p.Cys325Arg, XP_011517380.2:p.Cys332Arg, XP_011517381.2:p.Cys332Arg, XP_011517382.1:p.Cys100Arg, XP_016870671.1:p.Cys319Arg, NP_001317668.1:p.Cys287Arg, NP_001274120.1:p.Cys287Arg, XP_016870672.1:p.Cys287Arg, NP_001274121.1:p.Cys287Arg, XP_016870674.1:p.Cys332Arg, XP_016870676.1:p.Cys287Arg, XP_016870673.1:p.Cys162Arg, XP_047279905.1:p.Cys319Arg, XP_047279904.1:p.Cys162Arg

                8.

                rs1478257522 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  9:105546362 (GRCh38)
                  9:108308643 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:105546361:G:A
                  Gene:
                  FSD1L (Varview)
                  Functional Consequence:
                  coding_sequence_variant,stop_gained,genic_downstream_transcript_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000007/1 (GnomAD_exomes)
                  HGVS:
                  NC_000009.12:g.105546362G>A, NC_000009.11:g.108308643G>A, XM_005252254.3:c.1505G>A, XM_005252254.2:c.1505G>A, XM_005252254.1:c.1505G>A, NM_001145313.3:c.1472G>A, NM_001145313.2:c.1472G>A, NM_001145313.1:c.1472G>A, XM_011519077.3:c.1523G>A, XM_011519077.2:c.1523G>A, XM_011519077.1:c.1523G>A, XM_011519078.3:c.1511G>A, XM_011519078.2:c.1511G>A, XM_011519078.1:c.1502G>A, XM_011519079.3:c.1508G>A, XM_011519079.2:c.1508G>A, XM_011519079.1:c.1499G>A, XM_011519080.3:c.848G>A, XM_011519080.2:c.848G>A, XM_011519080.1:c.848G>A, XM_017015182.2:c.1469G>A, XM_017015182.1:c.1469G>A, NM_001330739.2:c.1409G>A, NM_001330739.1:c.1409G>A, NM_001287191.2:c.1406G>A, NM_001287191.1:c.1406G>A, XM_017015183.2:c.1376G>A, XM_017015183.1:c.1376G>A, NM_001287192.2:c.1373G>A, NM_001287192.1:c.1373G>A, XM_017015185.2:c.1069G>A, XM_017015185.1:c.1069G>A, XM_017015187.2:c.934G>A, XM_017015187.1:c.934G>A, XM_017015184.2:c.1034G>A, XM_017015184.1:c.1034G>A, NM_207647.2:c.1376G>A, XM_047423949.1:c.1030G>A, XM_047423948.1:c.1034G>A, XP_005252311.1:p.Trp502Ter, NP_001138785.1:p.Trp491Ter, XP_011517379.1:p.Trp508Ter, XP_011517380.2:p.Trp504Ter, XP_011517381.2:p.Trp503Ter, XP_011517382.1:p.Trp283Ter, XP_016870671.1:p.Trp490Ter, NP_001317668.1:p.Trp470Ter, NP_001274120.1:p.Trp469Ter, XP_016870672.1:p.Trp459Ter, NP_001274121.1:p.Trp458Ter, XP_016870674.1:p.Gly357Ser, XP_016870676.1:p.Gly312Ser, XP_016870673.1:p.Trp345Ter, XP_047279905.1:p.Gly344Ser, XP_047279904.1:p.Trp345Ter

                  9.

                  rs1477857415 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    9:105471964 (GRCh38)
                    9:108234245 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:105471963:A:G
                    Gene:
                    FSD1L (Varview)
                    Functional Consequence:
                    intron_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000008/2 (TOPMED)
                    G=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000009.12:g.105471964A>G, NC_000009.11:g.108234245A>G, NM_031919.5:c.304A>G, NM_031919.4:c.304A>G, NM_031919.3:c.304A>G, XM_005252254.3:c.400A>G, XM_005252254.2:c.400A>G, XM_005252254.1:c.400A>G, NM_001145313.3:c.400A>G, NM_001145313.2:c.400A>G, NM_001145313.1:c.400A>G, XM_011519077.3:c.418A>G, XM_011519077.2:c.418A>G, XM_011519077.1:c.418A>G, XM_011519078.3:c.439A>G, XM_011519078.2:c.439A>G, XM_011519078.1:c.430A>G, XM_011519079.3:c.439A>G, XM_011519079.2:c.439A>G, XM_011519079.1:c.430A>G, XM_017015182.2:c.400A>G, XM_017015182.1:c.400A>G, NM_001330739.2:c.304A>G, NM_001330739.1:c.304A>G, NM_001287191.2:c.304A>G, NM_001287191.1:c.304A>G, XM_017015183.2:c.304A>G, XM_017015183.1:c.304A>G, NM_001287192.2:c.304A>G, NM_001287192.1:c.304A>G, XM_017015185.2:c.439A>G, XM_017015185.1:c.439A>G, XM_017015187.2:c.304A>G, XM_017015187.1:c.304A>G, NM_207647.2:c.304A>G, XM_047423949.1:c.400A>G, XM_047423948.1:c.-49A>G, NP_114125.1:p.Thr102Ala, XP_005252311.1:p.Thr134Ala, NP_001138785.1:p.Thr134Ala, XP_011517379.1:p.Thr140Ala, XP_011517380.2:p.Thr147Ala, XP_011517381.2:p.Thr147Ala, XP_016870671.1:p.Thr134Ala, NP_001317668.1:p.Thr102Ala, NP_001274120.1:p.Thr102Ala, XP_016870672.1:p.Thr102Ala, NP_001274121.1:p.Thr102Ala, XP_016870674.1:p.Thr147Ala, XP_016870676.1:p.Thr102Ala, XP_047279905.1:p.Thr134Ala

                    10.

                    rs1476027545 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->T [Show Flanks]
                      Chromosome:
                      9:105484399 (GRCh38)
                      9:108246681 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:105484399:TTT:TTTT
                      Gene:
                      FSD1L (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_upstream_transcript_variant,frameshift_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000007/1 (GnomAD_exomes)
                      HGVS:
                      NC_000009.12:g.105484402dup, NC_000009.11:g.108246683dup, XM_005252254.3:c.486dup, XM_005252254.2:c.486dup, XM_005252254.1:c.486dup, NM_001145313.3:c.486dup, NM_001145313.2:c.486dup, NM_001145313.1:c.486dup, XM_011519077.3:c.504dup, XM_011519077.2:c.504dup, XM_011519077.1:c.504dup, XM_011519078.3:c.525dup, XM_011519078.2:c.525dup, XM_011519078.1:c.516dup, XM_011519079.3:c.525dup, XM_011519079.2:c.525dup, XM_011519079.1:c.516dup, XM_017015182.2:c.486dup, XM_017015182.1:c.486dup, NM_001330739.2:c.390dup, NM_001330739.1:c.390dup, NM_001287191.2:c.390dup, NM_001287191.1:c.390dup, XM_017015183.2:c.390dup, XM_017015183.1:c.390dup, NM_001287192.2:c.390dup, NM_001287192.1:c.390dup, XM_017015185.2:c.525dup, XM_017015185.1:c.525dup, XM_017015187.2:c.390dup, XM_017015187.1:c.390dup, XM_017015184.2:c.15dup, XM_017015184.1:c.15dup, NM_207647.2:c.390dup, XM_047423949.1:c.486dup, XM_047423948.1:c.15dup, XP_005252311.1:p.Arg163fs, NP_001138785.1:p.Arg163fs, XP_011517379.1:p.Arg169fs, XP_011517380.2:p.Arg176fs, XP_011517381.2:p.Arg176fs, XP_016870671.1:p.Arg163fs, NP_001317668.1:p.Arg131fs, NP_001274120.1:p.Arg131fs, XP_016870672.1:p.Arg131fs, NP_001274121.1:p.Arg131fs, XP_016870674.1:p.Arg176fs, XP_016870676.1:p.Arg131fs, XP_016870673.1:p.Arg6fs, XP_047279905.1:p.Arg163fs, XP_047279904.1:p.Arg6fs

                      11.

                      rs1475311532 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        9:105508638 (GRCh38)
                        9:108270919 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:105508637:A:G
                        Gene:
                        FSD1L (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000006/1 (GnomAD_exomes)
                        G=0.000014/2 (GnomAD)
                        G=0.000019/5 (TOPMED)
                        HGVS:
                        NC_000009.12:g.105508638A>G, NC_000009.11:g.108270919A>G, XM_005252254.3:c.818A>G, XM_005252254.2:c.818A>G, XM_005252254.1:c.818A>G, NM_001145313.3:c.818A>G, NM_001145313.2:c.818A>G, NM_001145313.1:c.818A>G, XM_011519077.3:c.836A>G, XM_011519077.2:c.836A>G, XM_011519077.1:c.836A>G, XM_011519078.3:c.857A>G, XM_011519078.2:c.857A>G, XM_011519078.1:c.848A>G, XM_011519079.3:c.857A>G, XM_011519079.2:c.857A>G, XM_011519079.1:c.848A>G, XM_011519080.3:c.161A>G, XM_011519080.2:c.161A>G, XM_011519080.1:c.161A>G, XM_017015182.2:c.818A>G, XM_017015182.1:c.818A>G, NM_001330739.2:c.722A>G, NM_001330739.1:c.722A>G, NM_001287191.2:c.722A>G, NM_001287191.1:c.722A>G, XM_017015183.2:c.722A>G, XM_017015183.1:c.722A>G, NM_001287192.2:c.722A>G, NM_001287192.1:c.722A>G, XM_017015185.2:c.857A>G, XM_017015185.1:c.857A>G, XM_017015187.2:c.722A>G, XM_017015187.1:c.722A>G, XM_017015184.2:c.347A>G, XM_017015184.1:c.347A>G, NM_207647.2:c.722A>G, XM_047423949.1:c.818A>G, XM_047423948.1:c.347A>G, XP_005252311.1:p.Tyr273Cys, NP_001138785.1:p.Tyr273Cys, XP_011517379.1:p.Tyr279Cys, XP_011517380.2:p.Tyr286Cys, XP_011517381.2:p.Tyr286Cys, XP_011517382.1:p.Tyr54Cys, XP_016870671.1:p.Tyr273Cys, NP_001317668.1:p.Tyr241Cys, NP_001274120.1:p.Tyr241Cys, XP_016870672.1:p.Tyr241Cys, NP_001274121.1:p.Tyr241Cys, XP_016870674.1:p.Tyr286Cys, XP_016870676.1:p.Tyr241Cys, XP_016870673.1:p.Tyr116Cys, XP_047279905.1:p.Tyr273Cys, XP_047279904.1:p.Tyr116Cys

                        12.

                        rs1471715156 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CTTT>- [Show Flanks]
                          Chromosome:
                          9:105484410 (GRCh38)
                          9:108246691 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:105484405:CTTTCTTT:CTTT
                          Gene:
                          FSD1L (Varview)
                          Functional Consequence:
                          coding_sequence_variant,stop_gained,genic_upstream_transcript_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          CTTTCTTT=0./0 (ALFA)
                          -=0./0 (GnomAD)
                          HGVS:
                          NC_000009.12:g.105484406CTTT[1], NC_000009.11:g.108246687CTTT[1], XM_005252254.3:c.494_497del, XM_005252254.2:c.494_497del, XM_005252254.1:c.494_497del, NM_001145313.3:c.494_497del, NM_001145313.2:c.494_497del, NM_001145313.1:c.494_497del, XM_011519077.3:c.512_515del, XM_011519077.2:c.512_515del, XM_011519077.1:c.512_515del, XM_011519078.3:c.533_536del, XM_011519078.2:c.533_536del, XM_011519078.1:c.524_527del, XM_011519079.3:c.533_536del, XM_011519079.2:c.533_536del, XM_011519079.1:c.524_527del, XM_017015182.2:c.494_497del, XM_017015182.1:c.494_497del, NM_001330739.2:c.398_401del, NM_001330739.1:c.398_401del, NM_001287191.2:c.398_401del, NM_001287191.1:c.398_401del, XM_017015183.2:c.398_401del, XM_017015183.1:c.398_401del, NM_001287192.2:c.398_401del, NM_001287192.1:c.398_401del, XM_017015185.2:c.533_536del, XM_017015185.1:c.533_536del, XM_017015187.2:c.398_401del, XM_017015187.1:c.398_401del, XM_017015184.2:c.23_26del, XM_017015184.1:c.23_26del, NM_207647.2:c.398_401del, XM_047423949.1:c.494_497del, XM_047423948.1:c.23_26del, XP_005252311.1:p.Leu164_Ser165insTer, NP_001138785.1:p.Leu164_Ser165insTer, XP_011517379.1:p.Leu170_Ser171insTer, XP_011517380.2:p.Leu177_Ser178insTer, XP_011517381.2:p.Leu177_Ser178insTer, XP_016870671.1:p.Leu164_Ser165insTer, NP_001317668.1:p.Leu132_Ser133insTer, NP_001274120.1:p.Leu132_Ser133insTer, XP_016870672.1:p.Leu132_Ser133insTer, NP_001274121.1:p.Leu132_Ser133insTer, XP_016870674.1:p.Leu177_Ser178insTer, XP_016870676.1:p.Leu132_Ser133insTer, XP_016870673.1:p.Leu7_Ser8insTer, XP_047279905.1:p.Leu164_Ser165insTer, XP_047279904.1:p.Leu7_Ser8insTer

                          13.

                          rs1471412687 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            9:105546402 (GRCh38)
                            9:108308683 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:105546401:A:C
                            Gene:
                            FSD1L (Varview)
                            Functional Consequence:
                            coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            HGVS:
                            NC_000009.12:g.105546402A>C, NC_000009.11:g.108308683A>C, XM_005252254.3:c.1545A>C, XM_005252254.2:c.1545A>C, XM_005252254.1:c.1545A>C, NM_001145313.3:c.1512A>C, NM_001145313.2:c.1512A>C, NM_001145313.1:c.1512A>C, XM_011519077.3:c.1563A>C, XM_011519077.2:c.1563A>C, XM_011519077.1:c.1563A>C, XM_011519078.3:c.1551A>C, XM_011519078.2:c.1551A>C, XM_011519078.1:c.1542A>C, XM_011519079.3:c.1548A>C, XM_011519079.2:c.1548A>C, XM_011519079.1:c.1539A>C, XM_011519080.3:c.888A>C, XM_011519080.2:c.888A>C, XM_011519080.1:c.888A>C, XM_017015182.2:c.1509A>C, XM_017015182.1:c.1509A>C, NM_001330739.2:c.1449A>C, NM_001330739.1:c.1449A>C, NM_001287191.2:c.1446A>C, NM_001287191.1:c.1446A>C, XM_017015183.2:c.1416A>C, XM_017015183.1:c.1416A>C, NM_001287192.2:c.1413A>C, NM_001287192.1:c.1413A>C, XM_017015185.2:c.*20A>C, XM_017015185.1:c.*20A>C, XM_017015187.2:c.*20A>C, XM_017015187.1:c.*20A>C, XM_017015184.2:c.1074A>C, XM_017015184.1:c.1074A>C, NM_207647.2:c.1416A>C, XM_047423949.1:c.*20A>C, XM_047423948.1:c.1074A>C

                            14.

                            rs1468919611 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->TCACATTT [Show Flanks]
                              Chromosome:
                              9:105506578 (GRCh38)
                              9:108268860 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:105506578::TCACATTT
                              Gene:
                              FSD1L (Varview)
                              Functional Consequence:
                              coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              TCACATTT=0.000006/1 (GnomAD_exomes)
                              HGVS:
                              NC_000009.12:g.105506578_105506579insTCACATTT, NC_000009.11:g.108268859_108268860insTCACATTT, XM_005252254.3:c.766_767insTCACATTT, XM_005252254.2:c.766_767insTCACATTT, XM_005252254.1:c.766_767insTCACATTT, NM_001145313.3:c.766_767insTCACATTT, NM_001145313.2:c.766_767insTCACATTT, NM_001145313.1:c.766_767insTCACATTT, XM_011519077.3:c.784_785insTCACATTT, XM_011519077.2:c.784_785insTCACATTT, XM_011519077.1:c.784_785insTCACATTT, XM_011519078.3:c.805_806insTCACATTT, XM_011519078.2:c.805_806insTCACATTT, XM_011519078.1:c.796_797insTCACATTT, XM_011519079.3:c.805_806insTCACATTT, XM_011519079.2:c.805_806insTCACATTT, XM_011519079.1:c.796_797insTCACATTT, XM_011519080.3:c.109_110insTCACATTT, XM_011519080.2:c.109_110insTCACATTT, XM_011519080.1:c.109_110insTCACATTT, XM_017015182.2:c.766_767insTCACATTT, XM_017015182.1:c.766_767insTCACATTT, NM_001330739.2:c.670_671insTCACATTT, NM_001330739.1:c.670_671insTCACATTT, NM_001287191.2:c.670_671insTCACATTT, NM_001287191.1:c.670_671insTCACATTT, XM_017015183.2:c.670_671insTCACATTT, XM_017015183.1:c.670_671insTCACATTT, NM_001287192.2:c.670_671insTCACATTT, NM_001287192.1:c.670_671insTCACATTT, XM_017015185.2:c.805_806insTCACATTT, XM_017015185.1:c.805_806insTCACATTT, XM_017015187.2:c.670_671insTCACATTT, XM_017015187.1:c.670_671insTCACATTT, XM_017015184.2:c.295_296insTCACATTT, XM_017015184.1:c.295_296insTCACATTT, NM_207647.2:c.670_671insTCACATTT, XM_047423949.1:c.766_767insTCACATTT, XM_047423948.1:c.295_296insTCACATTT, XP_005252311.1:p.Asn256fs, NP_001138785.1:p.Asn256fs, XP_011517379.1:p.Asn262fs, XP_011517380.2:p.Asn269fs, XP_011517381.2:p.Asn269fs, XP_011517382.1:p.Asn37fs, XP_016870671.1:p.Asn256fs, NP_001317668.1:p.Asn224fs, NP_001274120.1:p.Asn224fs, XP_016870672.1:p.Asn224fs, NP_001274121.1:p.Asn224fs, XP_016870674.1:p.Asn269fs, XP_016870676.1:p.Asn224fs, XP_016870673.1:p.Asn99fs, XP_047279905.1:p.Asn256fs, XP_047279904.1:p.Asn99fs

                              15.

                              rs1468142313 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                9:105535275 (GRCh38)
                                9:108297556 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:105535274:T:C
                                Gene:
                                FSD1L (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000009.12:g.105535275T>C, NC_000009.11:g.108297556T>C, XM_005252254.3:c.1368T>C, XM_005252254.2:c.1368T>C, XM_005252254.1:c.1368T>C, NM_001145313.3:c.1335T>C, NM_001145313.2:c.1335T>C, NM_001145313.1:c.1335T>C, XM_011519077.3:c.1386T>C, XM_011519077.2:c.1386T>C, XM_011519077.1:c.1386T>C, XM_011519078.3:c.1374T>C, XM_011519078.2:c.1374T>C, XM_011519078.1:c.1365T>C, XM_011519079.3:c.1371T>C, XM_011519079.2:c.1371T>C, XM_011519079.1:c.1362T>C, XM_011519080.3:c.711T>C, XM_011519080.2:c.711T>C, XM_011519080.1:c.711T>C, XM_017015182.2:c.1332T>C, XM_017015182.1:c.1332T>C, NM_001330739.2:c.1272T>C, NM_001330739.1:c.1272T>C, NM_001287191.2:c.1269T>C, NM_001287191.1:c.1269T>C, XM_017015183.2:c.1239T>C, XM_017015183.1:c.1239T>C, NM_001287192.2:c.1236T>C, NM_001287192.1:c.1236T>C, XM_017015184.2:c.897T>C, XM_017015184.1:c.897T>C, NM_207647.2:c.1239T>C, XM_047423948.1:c.897T>C

                                16.

                                rs1468042478 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  9:105534527 (GRCh38)
                                  9:108296808 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:105534526:G:T
                                  Gene:
                                  FSD1L (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
                                  HGVS:
                                  NC_000009.12:g.105534527G>T, NC_000009.11:g.108296808G>T, XM_005252254.3:c.1093G>T, XM_005252254.2:c.1093G>T, XM_005252254.1:c.1093G>T, NM_001145313.3:c.1060G>T, NM_001145313.2:c.1060G>T, NM_001145313.1:c.1060G>T, XM_011519077.3:c.1111G>T, XM_011519077.2:c.1111G>T, XM_011519077.1:c.1111G>T, XM_011519078.3:c.1099G>T, XM_011519078.2:c.1099G>T, XM_011519078.1:c.1090G>T, XM_011519079.3:c.1096G>T, XM_011519079.2:c.1096G>T, XM_011519079.1:c.1087G>T, XM_011519080.3:c.436G>T, XM_011519080.2:c.436G>T, XM_011519080.1:c.436G>T, XM_017015182.2:c.1057G>T, XM_017015182.1:c.1057G>T, NM_001330739.2:c.997G>T, NM_001330739.1:c.997G>T, NM_001287191.2:c.994G>T, NM_001287191.1:c.994G>T, XM_017015183.2:c.964G>T, XM_017015183.1:c.964G>T, NM_001287192.2:c.961G>T, NM_001287192.1:c.961G>T, XM_017015184.2:c.622G>T, XM_017015184.1:c.622G>T, NM_207647.2:c.964G>T, XM_047423948.1:c.622G>T, XP_005252311.1:p.Gly365Cys, NP_001138785.1:p.Gly354Cys, XP_011517379.1:p.Gly371Cys, XP_011517380.2:p.Gly367Cys, XP_011517381.2:p.Gly366Cys, XP_011517382.1:p.Gly146Cys, XP_016870671.1:p.Gly353Cys, NP_001317668.1:p.Gly333Cys, NP_001274120.1:p.Gly332Cys, XP_016870672.1:p.Gly322Cys, NP_001274121.1:p.Gly321Cys, XP_016870673.1:p.Gly208Cys, XP_047279904.1:p.Gly208Cys

                                  17.

                                  rs1467453450 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    9:105506513 (GRCh38)
                                    9:108268794 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:105506512:A:G
                                    Gene:
                                    FSD1L (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,genic_downstream_transcript_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_000009.12:g.105506513A>G, NC_000009.11:g.108268794A>G, XM_005252254.3:c.701A>G, XM_005252254.2:c.701A>G, XM_005252254.1:c.701A>G, NM_001145313.3:c.701A>G, NM_001145313.2:c.701A>G, NM_001145313.1:c.701A>G, XM_011519077.3:c.719A>G, XM_011519077.2:c.719A>G, XM_011519077.1:c.719A>G, XM_011519078.3:c.740A>G, XM_011519078.2:c.740A>G, XM_011519078.1:c.731A>G, XM_011519079.3:c.740A>G, XM_011519079.2:c.740A>G, XM_011519079.1:c.731A>G, XM_011519080.3:c.44A>G, XM_011519080.2:c.44A>G, XM_011519080.1:c.44A>G, XM_017015182.2:c.701A>G, XM_017015182.1:c.701A>G, NM_001330739.2:c.605A>G, NM_001330739.1:c.605A>G, NM_001287191.2:c.605A>G, NM_001287191.1:c.605A>G, XM_017015183.2:c.605A>G, XM_017015183.1:c.605A>G, NM_001287192.2:c.605A>G, NM_001287192.1:c.605A>G, XM_017015185.2:c.740A>G, XM_017015185.1:c.740A>G, XM_017015187.2:c.605A>G, XM_017015187.1:c.605A>G, XM_017015184.2:c.230A>G, XM_017015184.1:c.230A>G, NM_207647.2:c.605A>G, XM_047423949.1:c.701A>G, XM_047423948.1:c.230A>G, XP_005252311.1:p.His234Arg, NP_001138785.1:p.His234Arg, XP_011517379.1:p.His240Arg, XP_011517380.2:p.His247Arg, XP_011517381.2:p.His247Arg, XP_011517382.1:p.His15Arg, XP_016870671.1:p.His234Arg, NP_001317668.1:p.His202Arg, NP_001274120.1:p.His202Arg, XP_016870672.1:p.His202Arg, NP_001274121.1:p.His202Arg, XP_016870674.1:p.His247Arg, XP_016870676.1:p.His202Arg, XP_016870673.1:p.His77Arg, XP_047279905.1:p.His234Arg, XP_047279904.1:p.His77Arg

                                    18.

                                    rs1466305762 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      9:105468215 (GRCh38)
                                      9:108230496 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:105468214:C:T
                                      Gene:
                                      FSD1L (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.00003/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000009.12:g.105468215C>T, NC_000009.11:g.108230496C>T, NM_031919.5:c.134C>T, NM_031919.4:c.134C>T, NM_031919.3:c.134C>T, XM_005252254.3:c.230C>T, XM_005252254.2:c.230C>T, XM_005252254.1:c.230C>T, NM_001145313.3:c.230C>T, NM_001145313.2:c.230C>T, NM_001145313.1:c.230C>T, XM_011519077.3:c.248C>T, XM_011519077.2:c.248C>T, XM_011519077.1:c.248C>T, XM_011519078.3:c.269C>T, XM_011519078.2:c.269C>T, XM_011519078.1:c.260C>T, XM_011519079.3:c.269C>T, XM_011519079.2:c.269C>T, XM_011519079.1:c.260C>T, XM_017015182.2:c.230C>T, XM_017015182.1:c.230C>T, NM_001330739.2:c.134C>T, NM_001330739.1:c.134C>T, NM_001287191.2:c.134C>T, NM_001287191.1:c.134C>T, XM_017015183.2:c.134C>T, XM_017015183.1:c.134C>T, NM_001287192.2:c.134C>T, NM_001287192.1:c.134C>T, XM_017015185.2:c.269C>T, XM_017015185.1:c.269C>T, XM_017015187.2:c.134C>T, XM_017015187.1:c.134C>T, NM_207647.2:c.134C>T, XM_047423949.1:c.230C>T, NP_114125.1:p.Ser45Leu, XP_005252311.1:p.Ser77Leu, NP_001138785.1:p.Ser77Leu, XP_011517379.1:p.Ser83Leu, XP_011517380.2:p.Ser90Leu, XP_011517381.2:p.Ser90Leu, XP_016870671.1:p.Ser77Leu, NP_001317668.1:p.Ser45Leu, NP_001274120.1:p.Ser45Leu, XP_016870672.1:p.Ser45Leu, NP_001274121.1:p.Ser45Leu, XP_016870674.1:p.Ser90Leu, XP_016870676.1:p.Ser45Leu, XP_047279905.1:p.Ser77Leu

                                      19.

                                      rs1463911276 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        9:105534568 (GRCh38)
                                        9:108296849 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:105534567:T:C
                                        Gene:
                                        FSD1L (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000006/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000009.12:g.105534568T>C, NC_000009.11:g.108296849T>C, XM_005252254.3:c.1134T>C, XM_005252254.2:c.1134T>C, XM_005252254.1:c.1134T>C, NM_001145313.3:c.1101T>C, NM_001145313.2:c.1101T>C, NM_001145313.1:c.1101T>C, XM_011519077.3:c.1152T>C, XM_011519077.2:c.1152T>C, XM_011519077.1:c.1152T>C, XM_011519078.3:c.1140T>C, XM_011519078.2:c.1140T>C, XM_011519078.1:c.1131T>C, XM_011519079.3:c.1137T>C, XM_011519079.2:c.1137T>C, XM_011519079.1:c.1128T>C, XM_011519080.3:c.477T>C, XM_011519080.2:c.477T>C, XM_011519080.1:c.477T>C, XM_017015182.2:c.1098T>C, XM_017015182.1:c.1098T>C, NM_001330739.2:c.1038T>C, NM_001330739.1:c.1038T>C, NM_001287191.2:c.1035T>C, NM_001287191.1:c.1035T>C, XM_017015183.2:c.1005T>C, XM_017015183.1:c.1005T>C, NM_001287192.2:c.1002T>C, NM_001287192.1:c.1002T>C, XM_017015184.2:c.663T>C, XM_017015184.1:c.663T>C, NM_207647.2:c.1005T>C, XM_047423948.1:c.663T>C

                                        20.

                                        rs1463800389 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AGA>- [Show Flanks]
                                          Chromosome:
                                          9:105506481 (GRCh38)
                                          9:108268762 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:105506474:AGAAGAAGA:AGAAGA
                                          Gene:
                                          FSD1L (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,inframe_deletion,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          -=0.000006/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000009.12:g.105506475AGA[2], NC_000009.11:g.108268756AGA[2], XM_005252254.3:c.663AGA[2], XM_005252254.2:c.663AGA[2], XM_005252254.1:c.663AGA[2], NM_001145313.3:c.663AGA[2], NM_001145313.2:c.663AGA[2], NM_001145313.1:c.663AGA[2], XM_011519077.3:c.681AGA[2], XM_011519077.2:c.681AGA[2], XM_011519077.1:c.681AGA[2], XM_011519078.3:c.702AGA[2], XM_011519078.2:c.702AGA[2], XM_011519078.1:c.693AGA[2], XM_011519079.3:c.702AGA[2], XM_011519079.2:c.702AGA[2], XM_011519079.1:c.693AGA[2], XM_011519080.3:c.6AGA[2], XM_011519080.2:c.6AGA[2], XM_011519080.1:c.6AGA[2], XM_017015182.2:c.663AGA[2], XM_017015182.1:c.663AGA[2], NM_001330739.2:c.567AGA[2], NM_001330739.1:c.567AGA[2], NM_001287191.2:c.567AGA[2], NM_001287191.1:c.567AGA[2], XM_017015183.2:c.567AGA[2], XM_017015183.1:c.567AGA[2], NM_001287192.2:c.567AGA[2], NM_001287192.1:c.567AGA[2], XM_017015185.2:c.702AGA[2], XM_017015185.1:c.702AGA[2], XM_017015187.2:c.567AGA[2], XM_017015187.1:c.567AGA[2], XM_017015184.2:c.192AGA[2], XM_017015184.1:c.192AGA[2], NM_207647.2:c.567AGA[2], XM_047423949.1:c.663AGA[2], XM_047423948.1:c.192AGA[2], XP_005252311.1:p.Glu223del, NP_001138785.1:p.Glu223del, XP_011517379.1:p.Glu229del, XP_011517380.2:p.Glu236del, XP_011517381.2:p.Glu236del, XP_011517382.1:p.Glu4del, XP_016870671.1:p.Glu223del, NP_001317668.1:p.Glu191del, NP_001274120.1:p.Glu191del, XP_016870672.1:p.Glu191del, NP_001274121.1:p.Glu191del, XP_016870674.1:p.Glu236del, XP_016870676.1:p.Glu191del, XP_016870673.1:p.Glu66del, XP_047279905.1:p.Glu223del, XP_047279904.1:p.Glu66del

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