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Items: 1 to 20 of 907

1.

rs1490720160 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    10:11485170 (GRCh38)
    10:11527169 (GRCh37)
    Canonical SPDI:
    NC_000010.11:11485169:C:T
    Gene:
    USP6NL (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000008/2 (TOPMED)
    T=0.000021/3 (GnomAD)
    HGVS:
    NC_000010.11:g.11485170C>T, NC_000010.10:g.11527169C>T, NM_014688.5:c.824G>A, NM_014688.4:c.824G>A, NM_014688.3:c.824G>A, NM_014688.2:c.824G>A, NM_001080491.5:c.875G>A, NM_001080491.4:c.875G>A, NM_001080491.3:c.875G>A, NM_001080491.2:c.875G>A, XM_006717542.4:c.908G>A, XM_006717542.3:c.908G>A, XM_006717542.2:c.908G>A, XM_006717542.1:c.908G>A, XM_011519762.3:c.908G>A, XM_011519762.2:c.908G>A, XM_011519762.1:c.908G>A, XM_011519763.3:c.356G>A, XM_011519763.2:c.356G>A, XM_011519763.1:c.356G>A, XM_017016971.2:c.878G>A, XM_017016971.1:c.878G>A, XM_024448263.2:c.587G>A, XM_024448263.1:c.587G>A, XM_047426036.1:c.908G>A, NM_001391959.1:c.893G>A, XM_047426037.1:c.824G>A, NM_001391960.1:c.677G>A, NM_001391961.1:c.824G>A, XM_047426038.1:c.356G>A, NP_055503.1:p.Arg275His, NP_001073960.1:p.Arg292His, XP_006717605.1:p.Arg303His, XP_011518064.1:p.Arg303His, XP_011518065.1:p.Arg119His, XP_016872460.1:p.Arg293His, XP_024304031.1:p.Arg196His, XP_047281992.1:p.Arg303His, NP_001378888.1:p.Arg298His, XP_047281993.1:p.Arg275His, NP_001378889.1:p.Arg226His, NP_001378890.1:p.Arg275His, XP_047281994.1:p.Arg119His

    2.

    rs1489425861 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      10:11462506 (GRCh38)
      10:11504505 (GRCh37)
      Canonical SPDI:
      NC_000010.11:11462505:G:A
      Gene:
      USP6NL (Varview), LOC105376411 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000010.11:g.11462506G>A, NC_000010.10:g.11504505G>A, NM_014688.5:c.2422C>T, NM_014688.4:c.2422C>T, NM_014688.3:c.2422C>T, NM_014688.2:c.2422C>T, NM_001080491.5:c.2473C>T, NM_001080491.4:c.2473C>T, NM_001080491.3:c.2473C>T, NM_001080491.2:c.2473C>T, XM_006717542.4:c.2506C>T, XM_006717542.3:c.2506C>T, XM_006717542.2:c.2506C>T, XM_006717542.1:c.2506C>T, XM_011519762.3:c.2506C>T, XM_011519762.2:c.2506C>T, XM_011519762.1:c.2506C>T, XM_011519763.3:c.1954C>T, XM_011519763.2:c.1954C>T, XM_011519763.1:c.1954C>T, XM_017016971.2:c.2476C>T, XM_017016971.1:c.2476C>T, XM_024448263.2:c.2185C>T, XM_024448263.1:c.2185C>T, XM_047426036.1:c.2506C>T, NM_001391959.1:c.2491C>T, XM_047426037.1:c.2422C>T, NM_001391960.1:c.2275C>T, NM_001391961.1:c.2269C>T, XM_047426038.1:c.1954C>T, NP_055503.1:p.Pro808Ser, NP_001073960.1:p.Pro825Ser, XP_006717605.1:p.Pro836Ser, XP_011518064.1:p.Pro836Ser, XP_011518065.1:p.Pro652Ser, XP_016872460.1:p.Pro826Ser, XP_024304031.1:p.Pro729Ser, XP_047281992.1:p.Pro836Ser, NP_001378888.1:p.Pro831Ser, XP_047281993.1:p.Pro808Ser, NP_001378889.1:p.Pro759Ser, NP_001378890.1:p.Pro757Ser, XP_047281994.1:p.Pro652Ser

      3.

      rs1488368376 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        10:11463671 (GRCh38)
        10:11505670 (GRCh37)
        Canonical SPDI:
        NC_000010.11:11463670:C:T
        Gene:
        USP6NL (Varview), LOC105376411 (Varview)
        Functional Consequence:
        synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:

        4.

        rs1488356322 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          10:11463807 (GRCh38)
          10:11505806 (GRCh37)
          Canonical SPDI:
          NC_000010.11:11463806:G:A
          Gene:
          USP6NL (Varview), LOC105376411 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          HGVS:
          NC_000010.11:g.11463807G>A, NC_000010.10:g.11505806G>A, NM_014688.5:c.1121C>T, NM_014688.4:c.1121C>T, NM_014688.3:c.1121C>T, NM_014688.2:c.1121C>T, NM_001080491.5:c.1172C>T, NM_001080491.4:c.1172C>T, NM_001080491.3:c.1172C>T, NM_001080491.2:c.1172C>T, XM_006717542.4:c.1205C>T, XM_006717542.3:c.1205C>T, XM_006717542.2:c.1205C>T, XM_006717542.1:c.1205C>T, XM_011519762.3:c.1205C>T, XM_011519762.2:c.1205C>T, XM_011519762.1:c.1205C>T, XM_011519763.3:c.653C>T, XM_011519763.2:c.653C>T, XM_011519763.1:c.653C>T, XR_930658.3:n.25G>A, XR_930658.2:n.25G>A, XR_930658.1:n.25G>A, XM_017016971.2:c.1175C>T, XM_017016971.1:c.1175C>T, XM_024448263.2:c.884C>T, XM_024448263.1:c.884C>T, XM_047426036.1:c.1205C>T, NM_001391959.1:c.1190C>T, XM_047426037.1:c.1121C>T, NM_001391960.1:c.974C>T, NM_001391961.1:c.968C>T, XM_047426038.1:c.653C>T, NP_055503.1:p.Pro374Leu, NP_001073960.1:p.Pro391Leu, XP_006717605.1:p.Pro402Leu, XP_011518064.1:p.Pro402Leu, XP_011518065.1:p.Pro218Leu, XP_016872460.1:p.Pro392Leu, XP_024304031.1:p.Pro295Leu, XP_047281992.1:p.Pro402Leu, NP_001378888.1:p.Pro397Leu, XP_047281993.1:p.Pro374Leu, NP_001378889.1:p.Pro325Leu, NP_001378890.1:p.Pro323Leu, XP_047281994.1:p.Pro218Leu

          5.

          rs1486715491 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            T>- [Show Flanks]
            Chromosome:
            10:11462485 (GRCh38)
            10:11504484 (GRCh37)
            Canonical SPDI:
            NC_000010.11:11462484:T:
            Gene:
            USP6NL (Varview), LOC105376411 (Varview)
            Functional Consequence:
            2KB_upstream_variant,genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            HGVS:
            NC_000010.11:g.11462485del, NC_000010.10:g.11504484del, NM_014688.5:c.2443del, NM_014688.4:c.2443del, NM_014688.3:c.2443del, NM_014688.2:c.2443del, NM_001080491.5:c.2494del, NM_001080491.4:c.2494del, NM_001080491.3:c.2494del, NM_001080491.2:c.2494del, XM_006717542.4:c.2527del, XM_006717542.3:c.2527del, XM_006717542.2:c.2527del, XM_006717542.1:c.2527del, XM_011519762.3:c.2527del, XM_011519762.2:c.2527del, XM_011519762.1:c.2527del, XM_011519763.3:c.1975del, XM_011519763.2:c.1975del, XM_011519763.1:c.1975del, XM_017016971.2:c.2497del, XM_017016971.1:c.2497del, XM_024448263.2:c.2206del, XM_024448263.1:c.2206del, XM_047426036.1:c.2527del, NM_001391959.1:c.2512del, XM_047426037.1:c.2443del, NM_001391960.1:c.2296del, NM_001391961.1:c.2290del, XM_047426038.1:c.1975del, NP_055503.1:p.Arg815fs, NP_001073960.1:p.Arg832fs, XP_006717605.1:p.Arg843fs, XP_011518064.1:p.Arg843fs, XP_011518065.1:p.Arg659fs, XP_016872460.1:p.Arg833fs, XP_024304031.1:p.Arg736fs, XP_047281992.1:p.Arg843fs, NP_001378888.1:p.Arg838fs, XP_047281993.1:p.Arg815fs, NP_001378889.1:p.Arg766fs, NP_001378890.1:p.Arg764fs, XP_047281994.1:p.Arg659fs

            6.

            rs1485122825 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              10:11462806 (GRCh38)
              10:11504805 (GRCh37)
              Canonical SPDI:
              NC_000010.11:11462805:C:A
              Gene:
              USP6NL (Varview), LOC105376411 (Varview)
              Functional Consequence:
              2KB_upstream_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
              Validated:
              by frequency,by cluster
              MAF:
              A=0.000007/1 (GnomAD)
              A=0.000008/2 (GnomAD_exomes)
              HGVS:
              NC_000010.11:g.11462806C>A, NC_000010.10:g.11504805C>A, NM_014688.5:c.2122G>T, NM_014688.4:c.2122G>T, NM_014688.3:c.2122G>T, NM_014688.2:c.2122G>T, NM_001080491.5:c.2173G>T, NM_001080491.4:c.2173G>T, NM_001080491.3:c.2173G>T, NM_001080491.2:c.2173G>T, XM_006717542.4:c.2206G>T, XM_006717542.3:c.2206G>T, XM_006717542.2:c.2206G>T, XM_006717542.1:c.2206G>T, XM_011519762.3:c.2206G>T, XM_011519762.2:c.2206G>T, XM_011519762.1:c.2206G>T, XM_011519763.3:c.1654G>T, XM_011519763.2:c.1654G>T, XM_011519763.1:c.1654G>T, XM_017016971.2:c.2176G>T, XM_017016971.1:c.2176G>T, XM_024448263.2:c.1885G>T, XM_024448263.1:c.1885G>T, XM_047426036.1:c.2206G>T, NM_001391959.1:c.2191G>T, XM_047426037.1:c.2122G>T, NM_001391960.1:c.1975G>T, NM_001391961.1:c.1969G>T, XM_047426038.1:c.1654G>T, NP_055503.1:p.Gly708Trp, NP_001073960.1:p.Gly725Trp, XP_006717605.1:p.Gly736Trp, XP_011518064.1:p.Gly736Trp, XP_011518065.1:p.Gly552Trp, XP_016872460.1:p.Gly726Trp, XP_024304031.1:p.Gly629Trp, XP_047281992.1:p.Gly736Trp, NP_001378888.1:p.Gly731Trp, XP_047281993.1:p.Gly708Trp, NP_001378889.1:p.Gly659Trp, NP_001378890.1:p.Gly657Trp, XP_047281994.1:p.Gly552Trp

              7.

              rs1484916013 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                10:11489183 (GRCh38)
                10:11531182 (GRCh37)
                Canonical SPDI:
                NC_000010.11:11489182:A:G
                Gene:
                USP6NL (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                G=0.000008/2 (TOPMED)
                G=0.00005/7 (GnomAD)
                HGVS:

                8.

                rs1484885007 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  10:11518543 (GRCh38)
                  10:11560542 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:11518542:C:A
                  Gene:
                  USP6NL (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000007/1 (GnomAD)
                  A=0.000023/6 (TOPMED)
                  HGVS:
                  NC_000010.11:g.11518543C>A, NC_000010.10:g.11560542C>A, NM_014688.5:c.187G>T, NM_014688.4:c.187G>T, NM_014688.3:c.187G>T, NM_014688.2:c.187G>T, NM_001080491.5:c.238G>T, NM_001080491.4:c.238G>T, NM_001080491.3:c.238G>T, NM_001080491.2:c.238G>T, XM_006717542.4:c.271G>T, XM_006717542.3:c.271G>T, XM_006717542.2:c.271G>T, XM_006717542.1:c.271G>T, XM_011519762.3:c.271G>T, XM_011519762.2:c.271G>T, XM_011519762.1:c.271G>T, XM_017016971.2:c.241G>T, XM_017016971.1:c.241G>T, XM_024448263.2:c.-51G>T, XM_024448263.1:c.-51G>T, XM_047426036.1:c.271G>T, NM_001391959.1:c.256G>T, XM_047426037.1:c.187G>T, NM_001391960.1:c.40G>T, NM_001391961.1:c.187G>T, NP_055503.1:p.Val63Leu, NP_001073960.1:p.Val80Leu, XP_006717605.1:p.Val91Leu, XP_011518064.1:p.Val91Leu, XP_016872460.1:p.Val81Leu, XP_047281992.1:p.Val91Leu, NP_001378888.1:p.Val86Leu, XP_047281993.1:p.Val63Leu, NP_001378889.1:p.Val14Leu, NP_001378890.1:p.Val63Leu

                  9.

                  rs1482443193 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    10:11525452 (GRCh38)
                    10:11567451 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:11525451:T:C
                    Gene:
                    USP6NL (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000010.11:g.11525452T>C, NC_000010.10:g.11567451T>C, NM_014688.5:c.89A>G, NM_014688.4:c.89A>G, NM_014688.3:c.89A>G, NM_014688.2:c.89A>G, NM_001080491.5:c.140A>G, NM_001080491.4:c.140A>G, NM_001080491.3:c.140A>G, NM_001080491.2:c.140A>G, XM_006717542.4:c.173A>G, XM_006717542.3:c.173A>G, XM_006717542.2:c.173A>G, XM_006717542.1:c.173A>G, XM_011519762.3:c.173A>G, XM_011519762.2:c.173A>G, XM_011519762.1:c.173A>G, XM_017016971.2:c.143A>G, XM_017016971.1:c.143A>G, XM_024448263.2:c.-149A>G, XM_024448263.1:c.-149A>G, XM_047426036.1:c.173A>G, NM_001391959.1:c.158A>G, XM_047426037.1:c.89A>G, NM_001391961.1:c.89A>G, NP_055503.1:p.Glu30Gly, NP_001073960.1:p.Glu47Gly, XP_006717605.1:p.Glu58Gly, XP_011518064.1:p.Glu58Gly, XP_016872460.1:p.Glu48Gly, XP_047281992.1:p.Glu58Gly, NP_001378888.1:p.Glu53Gly, XP_047281993.1:p.Glu30Gly, NP_001378890.1:p.Glu30Gly

                    10.

                    rs1482155148 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      10:11485220 (GRCh38)
                      10:11527219 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:11485219:G:A
                      Gene:
                      USP6NL (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000014/2 (GnomAD)
                      HGVS:

                      11.

                      rs1480965360 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        10:11463735 (GRCh38)
                        10:11505734 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:11463734:A:G
                        Gene:
                        USP6NL (Varview), LOC105376411 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:
                        NC_000010.11:g.11463735A>G, NC_000010.10:g.11505734A>G, NM_014688.5:c.1193T>C, NM_014688.4:c.1193T>C, NM_014688.3:c.1193T>C, NM_014688.2:c.1193T>C, NM_001080491.5:c.1244T>C, NM_001080491.4:c.1244T>C, NM_001080491.3:c.1244T>C, NM_001080491.2:c.1244T>C, XM_006717542.4:c.1277T>C, XM_006717542.3:c.1277T>C, XM_006717542.2:c.1277T>C, XM_006717542.1:c.1277T>C, XM_011519762.3:c.1277T>C, XM_011519762.2:c.1277T>C, XM_011519762.1:c.1277T>C, XM_011519763.3:c.725T>C, XM_011519763.2:c.725T>C, XM_011519763.1:c.725T>C, XM_017016971.2:c.1247T>C, XM_017016971.1:c.1247T>C, XM_024448263.2:c.956T>C, XM_024448263.1:c.956T>C, XM_047426036.1:c.1277T>C, NM_001391959.1:c.1262T>C, XM_047426037.1:c.1193T>C, NM_001391960.1:c.1046T>C, NM_001391961.1:c.1040T>C, XM_047426038.1:c.725T>C, NP_055503.1:p.Leu398Pro, NP_001073960.1:p.Leu415Pro, XP_006717605.1:p.Leu426Pro, XP_011518064.1:p.Leu426Pro, XP_011518065.1:p.Leu242Pro, XP_016872460.1:p.Leu416Pro, XP_024304031.1:p.Leu319Pro, XP_047281992.1:p.Leu426Pro, NP_001378888.1:p.Leu421Pro, XP_047281993.1:p.Leu398Pro, NP_001378889.1:p.Leu349Pro, NP_001378890.1:p.Leu347Pro, XP_047281994.1:p.Leu242Pro

                        12.

                        rs1480104515 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          10:11509611 (GRCh38)
                          10:11551610 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:11509610:T:C
                          Gene:
                          USP6NL (Varview), LOC105376410 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                          HGVS:
                          NC_000010.11:g.11509611T>C, NC_000010.10:g.11551610T>C, NM_014688.5:c.260A>G, NM_014688.4:c.260A>G, NM_014688.3:c.260A>G, NM_014688.2:c.260A>G, NM_001080491.5:c.311A>G, NM_001080491.4:c.311A>G, NM_001080491.3:c.311A>G, NM_001080491.2:c.311A>G, XM_006717542.4:c.344A>G, XM_006717542.3:c.344A>G, XM_006717542.2:c.344A>G, XM_006717542.1:c.344A>G, XM_011519762.3:c.344A>G, XM_011519762.2:c.344A>G, XM_011519762.1:c.344A>G, XM_017016971.2:c.314A>G, XM_017016971.1:c.314A>G, XM_024448263.2:c.23A>G, XM_024448263.1:c.23A>G, XM_047426036.1:c.344A>G, NM_001391959.1:c.329A>G, XM_047426037.1:c.260A>G, NM_001391960.1:c.113A>G, NM_001391961.1:c.260A>G, NP_055503.1:p.Tyr87Cys, NP_001073960.1:p.Tyr104Cys, XP_006717605.1:p.Tyr115Cys, XP_011518064.1:p.Tyr115Cys, XP_016872460.1:p.Tyr105Cys, XP_024304031.1:p.Tyr8Cys, XP_047281992.1:p.Tyr115Cys, NP_001378888.1:p.Tyr110Cys, XP_047281993.1:p.Tyr87Cys, NP_001378889.1:p.Tyr38Cys, NP_001378890.1:p.Tyr87Cys

                          13.

                          rs1479423993 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            10:11462663 (GRCh38)
                            10:11504662 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:11462662:A:G
                            Gene:
                            USP6NL (Varview), LOC105376411 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000008/2 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1478901097 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              10:11462815 (GRCh38)
                              10:11504814 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:11462814:T:C
                              Gene:
                              USP6NL (Varview), LOC105376411 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000012/3 (GnomAD_exomes)
                              HGVS:
                              NC_000010.11:g.11462815T>C, NC_000010.10:g.11504814T>C, NM_014688.5:c.2113A>G, NM_014688.4:c.2113A>G, NM_014688.3:c.2113A>G, NM_014688.2:c.2113A>G, NM_001080491.5:c.2164A>G, NM_001080491.4:c.2164A>G, NM_001080491.3:c.2164A>G, NM_001080491.2:c.2164A>G, XM_006717542.4:c.2197A>G, XM_006717542.3:c.2197A>G, XM_006717542.2:c.2197A>G, XM_006717542.1:c.2197A>G, XM_011519762.3:c.2197A>G, XM_011519762.2:c.2197A>G, XM_011519762.1:c.2197A>G, XM_011519763.3:c.1645A>G, XM_011519763.2:c.1645A>G, XM_011519763.1:c.1645A>G, XM_017016971.2:c.2167A>G, XM_017016971.1:c.2167A>G, XM_024448263.2:c.1876A>G, XM_024448263.1:c.1876A>G, XM_047426036.1:c.2197A>G, NM_001391959.1:c.2182A>G, XM_047426037.1:c.2113A>G, NM_001391960.1:c.1966A>G, NM_001391961.1:c.1960A>G, XM_047426038.1:c.1645A>G, NP_055503.1:p.Thr705Ala, NP_001073960.1:p.Thr722Ala, XP_006717605.1:p.Thr733Ala, XP_011518064.1:p.Thr733Ala, XP_011518065.1:p.Thr549Ala, XP_016872460.1:p.Thr723Ala, XP_024304031.1:p.Thr626Ala, XP_047281992.1:p.Thr733Ala, NP_001378888.1:p.Thr728Ala, XP_047281993.1:p.Thr705Ala, NP_001378889.1:p.Thr656Ala, NP_001378890.1:p.Thr654Ala, XP_047281994.1:p.Thr549Ala

                              15.

                              rs1478878042 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                10:11462980 (GRCh38)
                                10:11504979 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:11462979:T:C
                                Gene:
                                USP6NL (Varview), LOC105376411 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000010.11:g.11462980T>C, NC_000010.10:g.11504979T>C, NM_014688.5:c.1948A>G, NM_014688.4:c.1948A>G, NM_014688.3:c.1948A>G, NM_014688.2:c.1948A>G, NM_001080491.5:c.1999A>G, NM_001080491.4:c.1999A>G, NM_001080491.3:c.1999A>G, NM_001080491.2:c.1999A>G, XM_006717542.4:c.2032A>G, XM_006717542.3:c.2032A>G, XM_006717542.2:c.2032A>G, XM_006717542.1:c.2032A>G, XM_011519762.3:c.2032A>G, XM_011519762.2:c.2032A>G, XM_011519762.1:c.2032A>G, XM_011519763.3:c.1480A>G, XM_011519763.2:c.1480A>G, XM_011519763.1:c.1480A>G, XM_017016971.2:c.2002A>G, XM_017016971.1:c.2002A>G, XM_024448263.2:c.1711A>G, XM_024448263.1:c.1711A>G, XM_047426036.1:c.2032A>G, NM_001391959.1:c.2017A>G, XM_047426037.1:c.1948A>G, NM_001391960.1:c.1801A>G, NM_001391961.1:c.1795A>G, XM_047426038.1:c.1480A>G, NP_055503.1:p.Asn650Asp, NP_001073960.1:p.Asn667Asp, XP_006717605.1:p.Asn678Asp, XP_011518064.1:p.Asn678Asp, XP_011518065.1:p.Asn494Asp, XP_016872460.1:p.Asn668Asp, XP_024304031.1:p.Asn571Asp, XP_047281992.1:p.Asn678Asp, NP_001378888.1:p.Asn673Asp, XP_047281993.1:p.Asn650Asp, NP_001378889.1:p.Asn601Asp, NP_001378890.1:p.Asn599Asp, XP_047281994.1:p.Asn494Asp

                                16.

                                rs1478677571 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  10:11493154 (GRCh38)
                                  10:11535153 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:11493153:C:T
                                  Gene:
                                  USP6NL (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000008/2 (GnomAD_exomes)
                                  T=0.000011/3 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1477905340 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    10:11463038 (GRCh38)
                                    10:11505037 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:11463037:G:A,NC_000010.11:11463037:G:T
                                    Gene:
                                    USP6NL (Varview), LOC105376411 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000010.11:g.11463038G>A, NC_000010.11:g.11463038G>T, NC_000010.10:g.11505037G>A, NC_000010.10:g.11505037G>T, NM_014688.5:c.1890C>T, NM_014688.5:c.1890C>A, NM_014688.4:c.1890C>T, NM_014688.4:c.1890C>A, NM_014688.3:c.1890C>T, NM_014688.3:c.1890C>A, NM_014688.2:c.1890C>T, NM_014688.2:c.1890C>A, NM_001080491.5:c.1941C>T, NM_001080491.5:c.1941C>A, NM_001080491.4:c.1941C>T, NM_001080491.4:c.1941C>A, NM_001080491.3:c.1941C>T, NM_001080491.3:c.1941C>A, NM_001080491.2:c.1941C>T, NM_001080491.2:c.1941C>A, XM_006717542.4:c.1974C>T, XM_006717542.4:c.1974C>A, XM_006717542.3:c.1974C>T, XM_006717542.3:c.1974C>A, XM_006717542.2:c.1974C>T, XM_006717542.2:c.1974C>A, XM_006717542.1:c.1974C>T, XM_006717542.1:c.1974C>A, XM_011519762.3:c.1974C>T, XM_011519762.3:c.1974C>A, XM_011519762.2:c.1974C>T, XM_011519762.2:c.1974C>A, XM_011519762.1:c.1974C>T, XM_011519762.1:c.1974C>A, XM_011519763.3:c.1422C>T, XM_011519763.3:c.1422C>A, XM_011519763.2:c.1422C>T, XM_011519763.2:c.1422C>A, XM_011519763.1:c.1422C>T, XM_011519763.1:c.1422C>A, XM_017016971.2:c.1944C>T, XM_017016971.2:c.1944C>A, XM_017016971.1:c.1944C>T, XM_017016971.1:c.1944C>A, XM_024448263.2:c.1653C>T, XM_024448263.2:c.1653C>A, XM_024448263.1:c.1653C>T, XM_024448263.1:c.1653C>A, XM_047426036.1:c.1974C>T, XM_047426036.1:c.1974C>A, NM_001391959.1:c.1959C>T, NM_001391959.1:c.1959C>A, XM_047426037.1:c.1890C>T, XM_047426037.1:c.1890C>A, NM_001391960.1:c.1743C>T, NM_001391960.1:c.1743C>A, NM_001391961.1:c.1737C>T, NM_001391961.1:c.1737C>A, XM_047426038.1:c.1422C>T, XM_047426038.1:c.1422C>A

                                    18.

                                    rs1477874141 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      10:11463571 (GRCh38)
                                      10:11505570 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:11463570:G:A,NC_000010.11:11463570:G:C
                                      Gene:
                                      USP6NL (Varview), LOC105376411 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000010.11:g.11463571G>A, NC_000010.11:g.11463571G>C, NC_000010.10:g.11505570G>A, NC_000010.10:g.11505570G>C, NM_014688.5:c.1357C>T, NM_014688.5:c.1357C>G, NM_014688.4:c.1357C>T, NM_014688.4:c.1357C>G, NM_014688.3:c.1357C>T, NM_014688.3:c.1357C>G, NM_014688.2:c.1357C>T, NM_014688.2:c.1357C>G, NM_001080491.5:c.1408C>T, NM_001080491.5:c.1408C>G, NM_001080491.4:c.1408C>T, NM_001080491.4:c.1408C>G, NM_001080491.3:c.1408C>T, NM_001080491.3:c.1408C>G, NM_001080491.2:c.1408C>T, NM_001080491.2:c.1408C>G, XM_006717542.4:c.1441C>T, XM_006717542.4:c.1441C>G, XM_006717542.3:c.1441C>T, XM_006717542.3:c.1441C>G, XM_006717542.2:c.1441C>T, XM_006717542.2:c.1441C>G, XM_006717542.1:c.1441C>T, XM_006717542.1:c.1441C>G, XM_011519762.3:c.1441C>T, XM_011519762.3:c.1441C>G, XM_011519762.2:c.1441C>T, XM_011519762.2:c.1441C>G, XM_011519762.1:c.1441C>T, XM_011519762.1:c.1441C>G, XM_011519763.3:c.889C>T, XM_011519763.3:c.889C>G, XM_011519763.2:c.889C>T, XM_011519763.2:c.889C>G, XM_011519763.1:c.889C>T, XM_011519763.1:c.889C>G, XM_017016971.2:c.1411C>T, XM_017016971.2:c.1411C>G, XM_017016971.1:c.1411C>T, XM_017016971.1:c.1411C>G, XM_024448263.2:c.1120C>T, XM_024448263.2:c.1120C>G, XM_024448263.1:c.1120C>T, XM_024448263.1:c.1120C>G, XM_047426036.1:c.1441C>T, XM_047426036.1:c.1441C>G, NM_001391959.1:c.1426C>T, NM_001391959.1:c.1426C>G, XM_047426037.1:c.1357C>T, XM_047426037.1:c.1357C>G, NM_001391960.1:c.1210C>T, NM_001391960.1:c.1210C>G, NM_001391961.1:c.1204C>T, NM_001391961.1:c.1204C>G, XM_047426038.1:c.889C>T, XM_047426038.1:c.889C>G, NP_055503.1:p.Leu453Phe, NP_055503.1:p.Leu453Val, NP_001073960.1:p.Leu470Phe, NP_001073960.1:p.Leu470Val, XP_006717605.1:p.Leu481Phe, XP_006717605.1:p.Leu481Val, XP_011518064.1:p.Leu481Phe, XP_011518064.1:p.Leu481Val, XP_011518065.1:p.Leu297Phe, XP_011518065.1:p.Leu297Val, XP_016872460.1:p.Leu471Phe, XP_016872460.1:p.Leu471Val, XP_024304031.1:p.Leu374Phe, XP_024304031.1:p.Leu374Val, XP_047281992.1:p.Leu481Phe, XP_047281992.1:p.Leu481Val, NP_001378888.1:p.Leu476Phe, NP_001378888.1:p.Leu476Val, XP_047281993.1:p.Leu453Phe, XP_047281993.1:p.Leu453Val, NP_001378889.1:p.Leu404Phe, NP_001378889.1:p.Leu404Val, NP_001378890.1:p.Leu402Phe, NP_001378890.1:p.Leu402Val, XP_047281994.1:p.Leu297Phe, XP_047281994.1:p.Leu297Val

                                      19.

                                      rs1476893818 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        10:11463817 (GRCh38)
                                        10:11505816 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:11463816:C:G
                                        Gene:
                                        USP6NL (Varview), LOC105376411 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                        HGVS:
                                        NC_000010.11:g.11463817C>G, NC_000010.10:g.11505816C>G, NM_014688.5:c.1111G>C, NM_014688.4:c.1111G>C, NM_014688.3:c.1111G>C, NM_014688.2:c.1111G>C, NM_001080491.5:c.1162G>C, NM_001080491.4:c.1162G>C, NM_001080491.3:c.1162G>C, NM_001080491.2:c.1162G>C, XM_006717542.4:c.1195G>C, XM_006717542.3:c.1195G>C, XM_006717542.2:c.1195G>C, XM_006717542.1:c.1195G>C, XM_011519762.3:c.1195G>C, XM_011519762.2:c.1195G>C, XM_011519762.1:c.1195G>C, XM_011519763.3:c.643G>C, XM_011519763.2:c.643G>C, XM_011519763.1:c.643G>C, XR_930658.3:n.35C>G, XR_930658.2:n.35C>G, XR_930658.1:n.35C>G, XM_017016971.2:c.1165G>C, XM_017016971.1:c.1165G>C, XM_024448263.2:c.874G>C, XM_024448263.1:c.874G>C, XM_047426036.1:c.1195G>C, NM_001391959.1:c.1180G>C, XM_047426037.1:c.1111G>C, NM_001391960.1:c.964G>C, NM_001391961.1:c.958G>C, XM_047426038.1:c.643G>C, NP_055503.1:p.Gly371Arg, NP_001073960.1:p.Gly388Arg, XP_006717605.1:p.Gly399Arg, XP_011518064.1:p.Gly399Arg, XP_011518065.1:p.Gly215Arg, XP_016872460.1:p.Gly389Arg, XP_024304031.1:p.Gly292Arg, XP_047281992.1:p.Gly399Arg, NP_001378888.1:p.Gly394Arg, XP_047281993.1:p.Gly371Arg, NP_001378889.1:p.Gly322Arg, NP_001378890.1:p.Gly320Arg, XP_047281994.1:p.Gly215Arg

                                        20.

                                        rs1476465356 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          10:11462569 (GRCh38)
                                          10:11504568 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:11462568:T:G
                                          Gene:
                                          USP6NL (Varview), LOC105376411 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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