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Items: 1 to 20 of 292

1.

rs1488989944 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    22:29512031 (GRCh38)
    22:29908020 (GRCh37)
    Canonical SPDI:
    NC_000022.11:29512030:T:C
    Gene:
    THOC5 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000022.11:g.29512031T>C, NC_000022.10:g.29908020T>C, NM_003678.5:c.1787A>G, NM_003678.4:c.1787A>G, XM_005261801.5:c.770A>G, XM_005261801.4:c.770A>G, XM_005261801.3:c.770A>G, XM_005261801.2:c.770A>G, XM_005261801.1:c.770A>G, XM_006724347.2:c.1820A>G, XM_006724347.1:c.1820A>G, XM_005261799.2:c.1820A>G, XM_005261799.1:c.1820A>G, XM_005261798.2:c.1820A>G, XM_005261798.1:c.1820A>G, NM_001002877.2:c.1787A>G, NM_001002877.1:c.1787A>G, XM_005261797.2:c.1820A>G, XM_005261797.1:c.1820A>G, XM_047441558.1:c.1820A>G, XM_047441559.1:c.1787A>G, NM_001002878.1:c.1787A>G, NM_001002879.1:c.1787A>G, NP_003669.4:p.Asp596Gly, XP_005261858.1:p.Asp257Gly, XP_006724410.1:p.Asp607Gly, XP_005261856.1:p.Asp607Gly, XP_005261855.1:p.Asp607Gly, NP_001002877.1:p.Asp596Gly, XP_005261854.1:p.Asp607Gly, XP_047297514.1:p.Asp607Gly, XP_047297515.1:p.Asp596Gly, NP_001002878.1:p.Asp596Gly, NP_001002879.1:p.Asp596Gly

    2.

    rs1487032313 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      22:29511210 (GRCh38)
      22:29907199 (GRCh37)
      Canonical SPDI:
      NC_000022.11:29511209:C:A
      Gene:
      THOC5 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:

      3.

      rs1485508597 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        22:29511205 (GRCh38)
        22:29907194 (GRCh37)
        Canonical SPDI:
        NC_000022.11:29511204:C:G
        Gene:
        THOC5 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000004/1 (TOPMED)
        G=0.000014/2 (GnomAD)
        HGVS:
        NC_000022.11:g.29511205C>G, NC_000022.10:g.29907194C>G, NM_003678.5:c.1889G>C, NM_003678.4:c.1889G>C, XM_005261801.5:c.872G>C, XM_005261801.4:c.872G>C, XM_005261801.3:c.872G>C, XM_005261801.2:c.872G>C, XM_005261801.1:c.872G>C, XM_006724347.2:c.1922G>C, XM_006724347.1:c.1922G>C, XM_005261799.2:c.1922G>C, XM_005261799.1:c.1922G>C, XM_005261798.2:c.1922G>C, XM_005261798.1:c.1922G>C, NM_001002877.2:c.1889G>C, NM_001002877.1:c.1889G>C, XM_005261797.2:c.1922G>C, XM_005261797.1:c.1922G>C, XM_047441558.1:c.1922G>C, XM_047441559.1:c.1889G>C, NM_001002878.1:c.1889G>C, NM_001002879.1:c.1889G>C, NP_003669.4:p.Cys630Ser, XP_005261858.1:p.Cys291Ser, XP_006724410.1:p.Cys641Ser, XP_005261856.1:p.Cys641Ser, XP_005261855.1:p.Cys641Ser, NP_001002877.1:p.Cys630Ser, XP_005261854.1:p.Cys641Ser, XP_047297514.1:p.Cys641Ser, XP_047297515.1:p.Cys630Ser, NP_001002878.1:p.Cys630Ser, NP_001002879.1:p.Cys630Ser

        4.

        rs1481835776 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          22:29528104 (GRCh38)
          22:29924093 (GRCh37)
          Canonical SPDI:
          NC_000022.11:29528103:G:A,NC_000022.11:29528103:G:T
          Gene:
          THOC5 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          NC_000022.11:g.29528104G>A, NC_000022.11:g.29528104G>T, NC_000022.10:g.29924093G>A, NC_000022.10:g.29924093G>T, NM_003678.5:c.1040C>T, NM_003678.5:c.1040C>A, NM_003678.4:c.1040C>T, NM_003678.4:c.1040C>A, XM_005261801.5:c.23C>T, XM_005261801.5:c.23C>A, XM_005261801.4:c.23C>T, XM_005261801.4:c.23C>A, XM_005261801.3:c.23C>T, XM_005261801.3:c.23C>A, XM_005261801.2:c.23C>T, XM_005261801.2:c.23C>A, XM_005261801.1:c.23C>T, XM_005261801.1:c.23C>A, XM_006724347.2:c.1073C>T, XM_006724347.2:c.1073C>A, XM_006724347.1:c.1073C>T, XM_006724347.1:c.1073C>A, XM_005261799.2:c.1073C>T, XM_005261799.2:c.1073C>A, XM_005261799.1:c.1073C>T, XM_005261799.1:c.1073C>A, XM_005261798.2:c.1073C>T, XM_005261798.2:c.1073C>A, XM_005261798.1:c.1073C>T, XM_005261798.1:c.1073C>A, NM_001002877.2:c.1040C>T, NM_001002877.2:c.1040C>A, NM_001002877.1:c.1040C>T, NM_001002877.1:c.1040C>A, XM_005261797.2:c.1073C>T, XM_005261797.2:c.1073C>A, XM_005261797.1:c.1073C>T, XM_005261797.1:c.1073C>A, XM_047441558.1:c.1073C>T, XM_047441558.1:c.1073C>A, XM_047441559.1:c.1040C>T, XM_047441559.1:c.1040C>A, NM_001002878.1:c.1040C>T, NM_001002878.1:c.1040C>A, NM_001002879.1:c.1040C>T, NM_001002879.1:c.1040C>A, NP_003669.4:p.Ser347Phe, NP_003669.4:p.Ser347Tyr, XP_005261858.1:p.Ser8Phe, XP_005261858.1:p.Ser8Tyr, XP_006724410.1:p.Ser358Phe, XP_006724410.1:p.Ser358Tyr, XP_005261856.1:p.Ser358Phe, XP_005261856.1:p.Ser358Tyr, XP_005261855.1:p.Ser358Phe, XP_005261855.1:p.Ser358Tyr, NP_001002877.1:p.Ser347Phe, NP_001002877.1:p.Ser347Tyr, XP_005261854.1:p.Ser358Phe, XP_005261854.1:p.Ser358Tyr, XP_047297514.1:p.Ser358Phe, XP_047297514.1:p.Ser358Tyr, XP_047297515.1:p.Ser347Phe, XP_047297515.1:p.Ser347Tyr, NP_001002878.1:p.Ser347Phe, NP_001002878.1:p.Ser347Tyr, NP_001002879.1:p.Ser347Phe, NP_001002879.1:p.Ser347Tyr

          5.

          rs1481825082 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            22:29508502 (GRCh38)
            22:29904491 (GRCh37)
            Canonical SPDI:
            NC_000022.11:29508501:C:T
            Gene:
            THOC5 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency
            MAF:
            T=0.000008/2 (GnomAD_exomes)
            HGVS:

            6.

            rs1475380141 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              22:29520043 (GRCh38)
              22:29916032 (GRCh37)
              Canonical SPDI:
              NC_000022.11:29520042:G:A
              Gene:
              THOC5 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:

              7.

              rs1472869432 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                22:29517034 (GRCh38)
                22:29913023 (GRCh37)
                Canonical SPDI:
                NC_000022.11:29517033:C:A
                Gene:
                THOC5 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000022.11:g.29517034C>A, NC_000022.10:g.29913023C>A, NM_003678.5:c.1676G>T, NM_003678.4:c.1676G>T, XM_005261801.5:c.659G>T, XM_005261801.4:c.659G>T, XM_005261801.3:c.659G>T, XM_005261801.2:c.659G>T, XM_005261801.1:c.659G>T, XM_006724347.2:c.1709G>T, XM_006724347.1:c.1709G>T, XM_005261799.2:c.1709G>T, XM_005261799.1:c.1709G>T, XM_005261798.2:c.1709G>T, XM_005261798.1:c.1709G>T, NM_001002877.2:c.1676G>T, NM_001002877.1:c.1676G>T, XM_005261797.2:c.1709G>T, XM_005261797.1:c.1709G>T, XM_047441558.1:c.1709G>T, XM_047441559.1:c.1676G>T, NM_001002878.1:c.1676G>T, NM_001002879.1:c.1676G>T, NP_003669.4:p.Gly559Val, XP_005261858.1:p.Gly220Val, XP_006724410.1:p.Gly570Val, XP_005261856.1:p.Gly570Val, XP_005261855.1:p.Gly570Val, NP_001002877.1:p.Gly559Val, XP_005261854.1:p.Gly570Val, XP_047297514.1:p.Gly570Val, XP_047297515.1:p.Gly559Val, NP_001002878.1:p.Gly559Val, NP_001002879.1:p.Gly559Val

                8.

                rs1465217490 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  22:29511106 (GRCh38)
                  22:29907095 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:29511105:C:A
                  Gene:
                  THOC5 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000022.11:g.29511106C>A, NC_000022.10:g.29907095C>A, NM_003678.5:c.1988G>T, NM_003678.4:c.1988G>T, XM_005261801.5:c.971G>T, XM_005261801.4:c.971G>T, XM_005261801.3:c.971G>T, XM_005261801.2:c.971G>T, XM_005261801.1:c.971G>T, XM_006724347.2:c.2021G>T, XM_006724347.1:c.2021G>T, XM_005261799.2:c.2021G>T, XM_005261799.1:c.2021G>T, XM_005261798.2:c.2021G>T, XM_005261798.1:c.2021G>T, NM_001002877.2:c.1988G>T, NM_001002877.1:c.1988G>T, XM_005261797.2:c.2021G>T, XM_005261797.1:c.2021G>T, XM_047441558.1:c.2021G>T, XM_047441559.1:c.1988G>T, NM_001002878.1:c.1988G>T, NM_001002879.1:c.1988G>T, NP_003669.4:p.Arg663Met, XP_005261858.1:p.Arg324Met, XP_006724410.1:p.Arg674Met, XP_005261856.1:p.Arg674Met, XP_005261855.1:p.Arg674Met, NP_001002877.1:p.Arg663Met, XP_005261854.1:p.Arg674Met, XP_047297514.1:p.Arg674Met, XP_047297515.1:p.Arg663Met, NP_001002878.1:p.Arg663Met, NP_001002879.1:p.Arg663Met

                  9.

                  rs1461234077 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    22:29520070 (GRCh38)
                    22:29916059 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:29520069:C:T
                    Gene:
                    THOC5 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000022.11:g.29520070C>T, NC_000022.10:g.29916059C>T, NM_003678.5:c.1312G>A, NM_003678.4:c.1312G>A, XM_005261801.5:c.295G>A, XM_005261801.4:c.295G>A, XM_005261801.3:c.295G>A, XM_005261801.2:c.295G>A, XM_005261801.1:c.295G>A, XM_006724347.2:c.1345G>A, XM_006724347.1:c.1345G>A, XM_005261799.2:c.1345G>A, XM_005261799.1:c.1345G>A, XM_005261798.2:c.1345G>A, XM_005261798.1:c.1345G>A, NM_001002877.2:c.1312G>A, NM_001002877.1:c.1312G>A, XM_005261797.2:c.1345G>A, XM_005261797.1:c.1345G>A, XM_047441558.1:c.1345G>A, XM_047441559.1:c.1312G>A, NM_001002878.1:c.1312G>A, NM_001002879.1:c.1312G>A, NP_003669.4:p.Gly438Ser, XP_005261858.1:p.Gly99Ser, XP_006724410.1:p.Gly449Ser, XP_005261856.1:p.Gly449Ser, XP_005261855.1:p.Gly449Ser, NP_001002877.1:p.Gly438Ser, XP_005261854.1:p.Gly449Ser, XP_047297514.1:p.Gly449Ser, XP_047297515.1:p.Gly438Ser, NP_001002878.1:p.Gly438Ser, NP_001002879.1:p.Gly438Ser

                    10.

                    rs1456409569 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      22:29520065 (GRCh38)
                      22:29916054 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:29520064:G:A,NC_000022.11:29520064:G:T
                      Gene:
                      THOC5 (Varview)
                      Functional Consequence:
                      missense_variant,synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      NC_000022.11:g.29520065G>A, NC_000022.11:g.29520065G>T, NC_000022.10:g.29916054G>A, NC_000022.10:g.29916054G>T, NM_003678.5:c.1317C>T, NM_003678.5:c.1317C>A, NM_003678.4:c.1317C>T, NM_003678.4:c.1317C>A, XM_005261801.5:c.300C>T, XM_005261801.5:c.300C>A, XM_005261801.4:c.300C>T, XM_005261801.4:c.300C>A, XM_005261801.3:c.300C>T, XM_005261801.3:c.300C>A, XM_005261801.2:c.300C>T, XM_005261801.2:c.300C>A, XM_005261801.1:c.300C>T, XM_005261801.1:c.300C>A, XM_006724347.2:c.1350C>T, XM_006724347.2:c.1350C>A, XM_006724347.1:c.1350C>T, XM_006724347.1:c.1350C>A, XM_005261799.2:c.1350C>T, XM_005261799.2:c.1350C>A, XM_005261799.1:c.1350C>T, XM_005261799.1:c.1350C>A, XM_005261798.2:c.1350C>T, XM_005261798.2:c.1350C>A, XM_005261798.1:c.1350C>T, XM_005261798.1:c.1350C>A, NM_001002877.2:c.1317C>T, NM_001002877.2:c.1317C>A, NM_001002877.1:c.1317C>T, NM_001002877.1:c.1317C>A, XM_005261797.2:c.1350C>T, XM_005261797.2:c.1350C>A, XM_005261797.1:c.1350C>T, XM_005261797.1:c.1350C>A, XM_047441558.1:c.1350C>T, XM_047441558.1:c.1350C>A, XM_047441559.1:c.1317C>T, XM_047441559.1:c.1317C>A, NM_001002878.1:c.1317C>T, NM_001002878.1:c.1317C>A, NM_001002879.1:c.1317C>T, NM_001002879.1:c.1317C>A, NP_003669.4:p.His439Gln, XP_005261858.1:p.His100Gln, XP_006724410.1:p.His450Gln, XP_005261856.1:p.His450Gln, XP_005261855.1:p.His450Gln, NP_001002877.1:p.His439Gln, XP_005261854.1:p.His450Gln, XP_047297514.1:p.His450Gln, XP_047297515.1:p.His439Gln, NP_001002878.1:p.His439Gln, NP_001002879.1:p.His439Gln

                      11.

                      rs1454207115 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        22:29512041 (GRCh38)
                        22:29908030 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:29512040:T:C
                        Gene:
                        THOC5 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000022.11:g.29512041T>C, NC_000022.10:g.29908030T>C, NM_003678.5:c.1777A>G, NM_003678.4:c.1777A>G, XM_005261801.5:c.760A>G, XM_005261801.4:c.760A>G, XM_005261801.3:c.760A>G, XM_005261801.2:c.760A>G, XM_005261801.1:c.760A>G, XM_006724347.2:c.1810A>G, XM_006724347.1:c.1810A>G, XM_005261799.2:c.1810A>G, XM_005261799.1:c.1810A>G, XM_005261798.2:c.1810A>G, XM_005261798.1:c.1810A>G, NM_001002877.2:c.1777A>G, NM_001002877.1:c.1777A>G, XM_005261797.2:c.1810A>G, XM_005261797.1:c.1810A>G, XM_047441558.1:c.1810A>G, XM_047441559.1:c.1777A>G, NM_001002878.1:c.1777A>G, NM_001002879.1:c.1777A>G, NP_003669.4:p.Ser593Gly, XP_005261858.1:p.Ser254Gly, XP_006724410.1:p.Ser604Gly, XP_005261856.1:p.Ser604Gly, XP_005261855.1:p.Ser604Gly, NP_001002877.1:p.Ser593Gly, XP_005261854.1:p.Ser604Gly, XP_047297514.1:p.Ser604Gly, XP_047297515.1:p.Ser593Gly, NP_001002878.1:p.Ser593Gly, NP_001002879.1:p.Ser593Gly

                        12.

                        rs1452362652 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          22:29519048 (GRCh38)
                          22:29915037 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:29519047:C:A
                          Gene:
                          THOC5 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000022.11:g.29519048C>A, NC_000022.10:g.29915037C>A, NM_003678.5:c.1447G>T, NM_003678.4:c.1447G>T, XM_005261801.5:c.430G>T, XM_005261801.4:c.430G>T, XM_005261801.3:c.430G>T, XM_005261801.2:c.430G>T, XM_005261801.1:c.430G>T, XM_006724347.2:c.1480G>T, XM_006724347.1:c.1480G>T, XM_005261799.2:c.1480G>T, XM_005261799.1:c.1480G>T, XM_005261798.2:c.1480G>T, XM_005261798.1:c.1480G>T, NM_001002877.2:c.1447G>T, NM_001002877.1:c.1447G>T, XM_005261797.2:c.1480G>T, XM_005261797.1:c.1480G>T, XM_047441558.1:c.1480G>T, XM_047441559.1:c.1447G>T, NM_001002878.1:c.1447G>T, NM_001002879.1:c.1447G>T, NP_003669.4:p.Val483Leu, XP_005261858.1:p.Val144Leu, XP_006724410.1:p.Val494Leu, XP_005261856.1:p.Val494Leu, XP_005261855.1:p.Val494Leu, NP_001002877.1:p.Val483Leu, XP_005261854.1:p.Val494Leu, XP_047297514.1:p.Val494Leu, XP_047297515.1:p.Val483Leu, NP_001002878.1:p.Val483Leu, NP_001002879.1:p.Val483Leu

                          13.

                          rs1450323971 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            22:29517065 (GRCh38)
                            22:29913054 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:29517064:T:A
                            Gene:
                            THOC5 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000022.11:g.29517065T>A, NC_000022.10:g.29913054T>A, NM_003678.5:c.1645A>T, NM_003678.4:c.1645A>T, XM_005261801.5:c.628A>T, XM_005261801.4:c.628A>T, XM_005261801.3:c.628A>T, XM_005261801.2:c.628A>T, XM_005261801.1:c.628A>T, XM_006724347.2:c.1678A>T, XM_006724347.1:c.1678A>T, XM_005261799.2:c.1678A>T, XM_005261799.1:c.1678A>T, XM_005261798.2:c.1678A>T, XM_005261798.1:c.1678A>T, NM_001002877.2:c.1645A>T, NM_001002877.1:c.1645A>T, XM_005261797.2:c.1678A>T, XM_005261797.1:c.1678A>T, XM_047441558.1:c.1678A>T, XM_047441559.1:c.1645A>T, NM_001002878.1:c.1645A>T, NM_001002879.1:c.1645A>T, NP_003669.4:p.Asn549Tyr, XP_005261858.1:p.Asn210Tyr, XP_006724410.1:p.Asn560Tyr, XP_005261856.1:p.Asn560Tyr, XP_005261855.1:p.Asn560Tyr, NP_001002877.1:p.Asn549Tyr, XP_005261854.1:p.Asn560Tyr, XP_047297514.1:p.Asn560Tyr, XP_047297515.1:p.Asn549Tyr, NP_001002878.1:p.Asn549Tyr, NP_001002879.1:p.Asn549Tyr

                            14.

                            rs1450093037 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              22:29517322 (GRCh38)
                              22:29913311 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:29517321:G:A
                              Gene:
                              THOC5 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000022.11:g.29517322G>A, NC_000022.10:g.29913311G>A, NM_003678.5:c.1534C>T, NM_003678.4:c.1534C>T, XM_005261801.5:c.517C>T, XM_005261801.4:c.517C>T, XM_005261801.3:c.517C>T, XM_005261801.2:c.517C>T, XM_005261801.1:c.517C>T, XM_006724347.2:c.1567C>T, XM_006724347.1:c.1567C>T, XM_005261799.2:c.1567C>T, XM_005261799.1:c.1567C>T, XM_005261798.2:c.1567C>T, XM_005261798.1:c.1567C>T, NM_001002877.2:c.1534C>T, NM_001002877.1:c.1534C>T, XM_005261797.2:c.1567C>T, XM_005261797.1:c.1567C>T, XM_047441558.1:c.1567C>T, XM_047441559.1:c.1534C>T, NM_001002878.1:c.1534C>T, NM_001002879.1:c.1534C>T, NP_003669.4:p.Pro512Ser, XP_005261858.1:p.Pro173Ser, XP_006724410.1:p.Pro523Ser, XP_005261856.1:p.Pro523Ser, XP_005261855.1:p.Pro523Ser, NP_001002877.1:p.Pro512Ser, XP_005261854.1:p.Pro523Ser, XP_047297514.1:p.Pro523Ser, XP_047297515.1:p.Pro512Ser, NP_001002878.1:p.Pro512Ser, NP_001002879.1:p.Pro512Ser

                              15.

                              rs1448896186 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                22:29511116 (GRCh38)
                                22:29907105 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:29511115:G:A
                                Gene:
                                THOC5 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.000047/1 (ALFA)
                                A=0.000016/4 (GnomAD_exomes)
                                HGVS:
                                NC_000022.11:g.29511116G>A, NC_000022.10:g.29907105G>A, NM_003678.5:c.1978C>T, NM_003678.4:c.1978C>T, XM_005261801.5:c.961C>T, XM_005261801.4:c.961C>T, XM_005261801.3:c.961C>T, XM_005261801.2:c.961C>T, XM_005261801.1:c.961C>T, XM_006724347.2:c.2011C>T, XM_006724347.1:c.2011C>T, XM_005261799.2:c.2011C>T, XM_005261799.1:c.2011C>T, XM_005261798.2:c.2011C>T, XM_005261798.1:c.2011C>T, NM_001002877.2:c.1978C>T, NM_001002877.1:c.1978C>T, XM_005261797.2:c.2011C>T, XM_005261797.1:c.2011C>T, XM_047441558.1:c.2011C>T, XM_047441559.1:c.1978C>T, NM_001002878.1:c.1978C>T, NM_001002879.1:c.1978C>T, NP_003669.4:p.Arg660Trp, XP_005261858.1:p.Arg321Trp, XP_006724410.1:p.Arg671Trp, XP_005261856.1:p.Arg671Trp, XP_005261855.1:p.Arg671Trp, NP_001002877.1:p.Arg660Trp, XP_005261854.1:p.Arg671Trp, XP_047297514.1:p.Arg671Trp, XP_047297515.1:p.Arg660Trp, NP_001002878.1:p.Arg660Trp, NP_001002879.1:p.Arg660Trp

                                16.

                                rs1440675913 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  22:29519047 (GRCh38)
                                  22:29915036 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:29519046:A:T
                                  Gene:
                                  THOC5 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000022.11:g.29519047A>T, NC_000022.10:g.29915036A>T, NM_003678.5:c.1448T>A, NM_003678.4:c.1448T>A, XM_005261801.5:c.431T>A, XM_005261801.4:c.431T>A, XM_005261801.3:c.431T>A, XM_005261801.2:c.431T>A, XM_005261801.1:c.431T>A, XM_006724347.2:c.1481T>A, XM_006724347.1:c.1481T>A, XM_005261799.2:c.1481T>A, XM_005261799.1:c.1481T>A, XM_005261798.2:c.1481T>A, XM_005261798.1:c.1481T>A, NM_001002877.2:c.1448T>A, NM_001002877.1:c.1448T>A, XM_005261797.2:c.1481T>A, XM_005261797.1:c.1481T>A, XM_047441558.1:c.1481T>A, XM_047441559.1:c.1448T>A, NM_001002878.1:c.1448T>A, NM_001002879.1:c.1448T>A, NP_003669.4:p.Val483Glu, XP_005261858.1:p.Val144Glu, XP_006724410.1:p.Val494Glu, XP_005261856.1:p.Val494Glu, XP_005261855.1:p.Val494Glu, NP_001002877.1:p.Val483Glu, XP_005261854.1:p.Val494Glu, XP_047297514.1:p.Val494Glu, XP_047297515.1:p.Val483Glu, NP_001002878.1:p.Val483Glu, NP_001002879.1:p.Val483Glu

                                  17.

                                  rs1438478102 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    22:29528110 (GRCh38)
                                    22:29924099 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:29528109:G:A
                                    Gene:
                                    THOC5 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000022.11:g.29528110G>A, NC_000022.10:g.29924099G>A, NM_003678.5:c.1034C>T, NM_003678.4:c.1034C>T, XM_005261801.5:c.17C>T, XM_005261801.4:c.17C>T, XM_005261801.3:c.17C>T, XM_005261801.2:c.17C>T, XM_005261801.1:c.17C>T, XM_006724347.2:c.1067C>T, XM_006724347.1:c.1067C>T, XM_005261799.2:c.1067C>T, XM_005261799.1:c.1067C>T, XM_005261798.2:c.1067C>T, XM_005261798.1:c.1067C>T, NM_001002877.2:c.1034C>T, NM_001002877.1:c.1034C>T, XM_005261797.2:c.1067C>T, XM_005261797.1:c.1067C>T, XM_047441558.1:c.1067C>T, XM_047441559.1:c.1034C>T, NM_001002878.1:c.1034C>T, NM_001002879.1:c.1034C>T, NP_003669.4:p.Pro345Leu, XP_005261858.1:p.Pro6Leu, XP_006724410.1:p.Pro356Leu, XP_005261856.1:p.Pro356Leu, XP_005261855.1:p.Pro356Leu, NP_001002877.1:p.Pro345Leu, XP_005261854.1:p.Pro356Leu, XP_047297514.1:p.Pro356Leu, XP_047297515.1:p.Pro345Leu, NP_001002878.1:p.Pro345Leu, NP_001002879.1:p.Pro345Leu

                                    18.

                                    rs1437784390 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      22:29511150 (GRCh38)
                                      22:29907139 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:29511149:C:G,NC_000022.11:29511149:C:T
                                      Gene:
                                      THOC5 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000022.11:g.29511150C>G, NC_000022.11:g.29511150C>T, NC_000022.10:g.29907139C>G, NC_000022.10:g.29907139C>T, NM_003678.5:c.1944G>C, NM_003678.5:c.1944G>A, NM_003678.4:c.1944G>C, NM_003678.4:c.1944G>A, XM_005261801.5:c.927G>C, XM_005261801.5:c.927G>A, XM_005261801.4:c.927G>C, XM_005261801.4:c.927G>A, XM_005261801.3:c.927G>C, XM_005261801.3:c.927G>A, XM_005261801.2:c.927G>C, XM_005261801.2:c.927G>A, XM_005261801.1:c.927G>C, XM_005261801.1:c.927G>A, XM_006724347.2:c.1977G>C, XM_006724347.2:c.1977G>A, XM_006724347.1:c.1977G>C, XM_006724347.1:c.1977G>A, XM_005261799.2:c.1977G>C, XM_005261799.2:c.1977G>A, XM_005261799.1:c.1977G>C, XM_005261799.1:c.1977G>A, XM_005261798.2:c.1977G>C, XM_005261798.2:c.1977G>A, XM_005261798.1:c.1977G>C, XM_005261798.1:c.1977G>A, NM_001002877.2:c.1944G>C, NM_001002877.2:c.1944G>A, NM_001002877.1:c.1944G>C, NM_001002877.1:c.1944G>A, XM_005261797.2:c.1977G>C, XM_005261797.2:c.1977G>A, XM_005261797.1:c.1977G>C, XM_005261797.1:c.1977G>A, XM_047441558.1:c.1977G>C, XM_047441558.1:c.1977G>A, XM_047441559.1:c.1944G>C, XM_047441559.1:c.1944G>A, NM_001002878.1:c.1944G>C, NM_001002878.1:c.1944G>A, NM_001002879.1:c.1944G>C, NM_001002879.1:c.1944G>A

                                      19.

                                      rs1437644967 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        22:29511293 (GRCh38)
                                        22:29907282 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:29511292:T:G
                                        Gene:
                                        THOC5 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by cluster
                                        HGVS:
                                        NC_000022.11:g.29511293T>G, NC_000022.10:g.29907282T>G, NM_003678.5:c.1801A>C, NM_003678.4:c.1801A>C, XM_005261801.5:c.784A>C, XM_005261801.4:c.784A>C, XM_005261801.3:c.784A>C, XM_005261801.2:c.784A>C, XM_005261801.1:c.784A>C, XM_006724347.2:c.1834A>C, XM_006724347.1:c.1834A>C, XM_005261799.2:c.1834A>C, XM_005261799.1:c.1834A>C, XM_005261798.2:c.1834A>C, XM_005261798.1:c.1834A>C, NM_001002877.2:c.1801A>C, NM_001002877.1:c.1801A>C, XM_005261797.2:c.1834A>C, XM_005261797.1:c.1834A>C, XM_047441558.1:c.1834A>C, XM_047441559.1:c.1801A>C, NM_001002878.1:c.1801A>C, NM_001002879.1:c.1801A>C, NP_003669.4:p.Met601Leu, XP_005261858.1:p.Met262Leu, XP_006724410.1:p.Met612Leu, XP_005261856.1:p.Met612Leu, XP_005261855.1:p.Met612Leu, NP_001002877.1:p.Met601Leu, XP_005261854.1:p.Met612Leu, XP_047297514.1:p.Met612Leu, XP_047297515.1:p.Met601Leu, NP_001002878.1:p.Met601Leu, NP_001002879.1:p.Met601Leu

                                        20.

                                        rs1432356954 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          22:29519119 (GRCh38)
                                          22:29915108 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:29519118:T:C
                                          Gene:
                                          THOC5 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          HGVS:
                                          NC_000022.11:g.29519119T>C, NC_000022.10:g.29915108T>C, NM_003678.5:c.1376A>G, NM_003678.4:c.1376A>G, XM_005261801.5:c.359A>G, XM_005261801.4:c.359A>G, XM_005261801.3:c.359A>G, XM_005261801.2:c.359A>G, XM_005261801.1:c.359A>G, XM_006724347.2:c.1409A>G, XM_006724347.1:c.1409A>G, XM_005261799.2:c.1409A>G, XM_005261799.1:c.1409A>G, XM_005261798.2:c.1409A>G, XM_005261798.1:c.1409A>G, NM_001002877.2:c.1376A>G, NM_001002877.1:c.1376A>G, XM_005261797.2:c.1409A>G, XM_005261797.1:c.1409A>G, XM_047441558.1:c.1409A>G, XM_047441559.1:c.1376A>G, NM_001002878.1:c.1376A>G, NM_001002879.1:c.1376A>G, NP_003669.4:p.Gln459Arg, XP_005261858.1:p.Gln120Arg, XP_006724410.1:p.Gln470Arg, XP_005261856.1:p.Gln470Arg, XP_005261855.1:p.Gln470Arg, NP_001002877.1:p.Gln459Arg, XP_005261854.1:p.Gln470Arg, XP_047297514.1:p.Gln470Arg, XP_047297515.1:p.Gln459Arg, NP_001002878.1:p.Gln459Arg, NP_001002879.1:p.Gln459Arg

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