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Items: 1 to 20 of 648

1.

rs1489908833 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    16:671060 (GRCh38)
    16:721060 (GRCh37)
    Canonical SPDI:
    NC_000016.10:671059:C:G,NC_000016.10:671059:C:T
    Gene:
    RHOT2 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,intron_variant,synonymous_variant
    Validated:
    by frequency,by cluster
    MAF:
    G=0.000008/2 (GnomAD_exomes)
    HGVS:
    NC_000016.10:g.671060C>G, NC_000016.10:g.671060C>T, NC_000016.9:g.721060C>G, NC_000016.9:g.721060C>T, NG_031824.1:g.7978C>G, NG_031824.1:g.7978C>T, NM_001352289.2:c.63C>G, NM_001352289.2:c.63C>T, NM_001352289.1:c.63C>G, NM_001352289.1:c.63C>T, NM_001352290.2:c.63C>G, NM_001352290.2:c.63C>T, NM_001352290.1:c.63C>G, NM_001352290.1:c.63C>T, NM_001352293.2:c.63C>G, NM_001352293.2:c.63C>T, NM_001352293.1:c.63C>G, NM_001352293.1:c.63C>T, NM_001352292.2:c.63C>G, NM_001352292.2:c.63C>T, NM_001352292.1:c.63C>G, NM_001352292.1:c.63C>T, NM_001352288.2:c.63C>G, NM_001352288.2:c.63C>T, NM_001352288.1:c.63C>G, NM_001352288.1:c.63C>T, NR_147953.2:n.822C>G, NR_147953.2:n.822C>T, NR_147953.1:n.871C>G, NR_147953.1:n.871C>T, NM_001352291.2:c.63C>G, NM_001352291.2:c.63C>T, NM_001352291.1:c.63C>G, NM_001352291.1:c.63C>T, NM_001352294.2:c.63C>G, NM_001352294.2:c.63C>T, NM_001352294.1:c.63C>G, NM_001352294.1:c.63C>T, NM_001352287.1:c.63C>G, NM_001352287.1:c.63C>T

    2.

    rs1489779412 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TGGGCTACC>- [Show Flanks]
      Chromosome:
      16:672134 (GRCh38)
      16:722134 (GRCh37)
      Canonical SPDI:
      NC_000016.10:672126:GGCTACCTGGGCTACC:GGCTACC
      Gene:
      RHOT2 (Varview)
      Functional Consequence:
      coding_sequence_variant,inframe_deletion,non_coding_transcript_variant
      Validated:
      by frequency
      MAF:
      -=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000016.10:g.672134_672142del, NC_000016.9:g.722134_722142del, NG_031824.1:g.9052_9060del, NM_138769.3:c.1148_1156del, NM_138769.2:c.1148_1156del, NM_001352289.2:c.485_493del, NM_001352289.1:c.485_493del, NM_001352290.2:c.485_493del, NM_001352290.1:c.485_493del, NM_001352293.2:c.485_493del, NM_001352293.1:c.485_493del, NM_001352292.2:c.485_493del, NM_001352292.1:c.485_493del, NM_001352288.2:c.485_493del, NM_001352288.1:c.485_493del, NR_147953.2:n.1244_1252del, NR_147953.1:n.1293_1301del, NR_147954.2:n.1235_1243del, NR_147954.1:n.1284_1292del, NR_147955.2:n.1230_1238del, NR_147955.1:n.1279_1287del, NM_001352291.2:c.485_493del, NM_001352291.1:c.485_493del, NM_001352275.2:c.1151_1159del, NM_001352275.1:c.1151_1159del, NR_147956.2:n.1218_1226del, NR_147956.1:n.1267_1275del, NM_001352283.2:c.767_775del, NM_001352283.1:c.767_775del, NM_001352280.2:c.830_838del, NM_001352280.1:c.830_838del, NM_001352294.2:c.485_493del, NM_001352294.1:c.485_493del, NM_001352281.2:c.827_835del, NM_001352281.1:c.827_835del, NM_001352276.2:c.1097_1105del, NM_001352276.1:c.1097_1105del, NM_001352277.2:c.1094_1102del, NM_001352277.1:c.1094_1102del, NM_001352282.2:c.827_835del, NM_001352282.1:c.827_835del, NM_001352278.2:c.1049_1057del, NM_001352278.1:c.1049_1057del, NM_001352284.2:c.731_739del, NM_001352284.1:c.731_739del, NM_001352285.2:c.728_736del, NM_001352285.1:c.728_736del, NM_001352279.2:c.995_1003del, NM_001352279.1:c.995_1003del, NM_001352286.2:c.671_679del, NM_001352286.1:c.671_679del, NM_001352287.1:c.485_493del, XM_047434840.1:c.830_838del, XM_047434842.1:c.770_778del, XM_047434843.1:c.770_778del, XM_047434844.1:c.770_778del, XM_047434845.1:c.767_775del, XM_047434846.1:c.767_775del, XM_047434848.1:c.668_676del, XM_047434841.1:c.830_838del, XM_047434847.1:c.1151_1159del, NP_620124.1:p.380LGY[1], NP_001339218.1:p.159LGY[1], NP_001339219.1:p.159LGY[1], NP_001339222.1:p.159LGY[1], NP_001339221.1:p.159LGY[1], NP_001339217.1:p.159LGY[1], NP_001339220.1:p.159LGY[1], NP_001339204.1:p.381LGY[1], NP_001339212.1:p.253LGY[1], NP_001339209.1:p.274LGY[1], NP_001339223.1:p.159LGY[1], NP_001339210.1:p.273LGY[1], NP_001339205.1:p.363LGY[1], NP_001339206.1:p.362LGY[1], NP_001339211.1:p.273LGY[1], NP_001339207.1:p.347LGY[1], NP_001339213.1:p.241LGY[1], NP_001339214.1:p.240LGY[1], NP_001339208.1:p.329LGY[1], NP_001339215.1:p.221LGY[1], NP_001339216.1:p.159LGY[1], XP_047290796.1:p.274LGY[1], XP_047290798.1:p.254LGY[1], XP_047290799.1:p.254LGY[1], XP_047290800.1:p.254LGY[1], XP_047290801.1:p.253LGY[1], XP_047290802.1:p.253LGY[1], XP_047290804.1:p.220LGY[1], XP_047290797.1:p.274LGY[1], XP_047290803.1:p.381LGY[1]

      3.

      rs1488590206 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        16:671874 (GRCh38)
        16:721874 (GRCh37)
        Canonical SPDI:
        NC_000016.10:671873:C:T
        Gene:
        RHOT2 (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000056/2 (ALFA)
        T=0.000015/4 (TOPMED)
        T=0.000035/1 (TOMMO)
        HGVS:
        NC_000016.10:g.671874C>T, NC_000016.9:g.721874C>T, NG_031824.1:g.8792C>T, NM_138769.3:c.969C>T, NM_138769.2:c.969C>T, NM_001352289.2:c.306C>T, NM_001352289.1:c.306C>T, NM_001352290.2:c.306C>T, NM_001352290.1:c.306C>T, NM_001352293.2:c.306C>T, NM_001352293.1:c.306C>T, NM_001352292.2:c.306C>T, NM_001352292.1:c.306C>T, NM_001352288.2:c.306C>T, NM_001352288.1:c.306C>T, NR_147953.2:n.1065C>T, NR_147953.1:n.1114C>T, NR_147954.2:n.1056C>T, NR_147954.1:n.1105C>T, NR_147955.2:n.1051C>T, NR_147955.1:n.1100C>T, NM_001352291.2:c.306C>T, NM_001352291.1:c.306C>T, NM_001352275.2:c.972C>T, NM_001352275.1:c.972C>T, NR_147956.2:n.1039C>T, NR_147956.1:n.1088C>T, NM_001352283.2:c.588C>T, NM_001352283.1:c.588C>T, NM_001352280.2:c.651C>T, NM_001352280.1:c.651C>T, NM_001352294.2:c.306C>T, NM_001352294.1:c.306C>T, NM_001352281.2:c.648C>T, NM_001352281.1:c.648C>T, NM_001352276.2:c.918C>T, NM_001352276.1:c.918C>T, NM_001352277.2:c.915C>T, NM_001352277.1:c.915C>T, NM_001352282.2:c.648C>T, NM_001352282.1:c.648C>T, NM_001352278.2:c.870C>T, NM_001352278.1:c.870C>T, NM_001352284.2:c.552C>T, NM_001352284.1:c.552C>T, NM_001352285.2:c.549C>T, NM_001352285.1:c.549C>T, NM_001352279.2:c.816C>T, NM_001352279.1:c.816C>T, NM_001352286.2:c.492C>T, NM_001352286.1:c.492C>T, NM_001352287.1:c.306C>T, XM_047434840.1:c.651C>T, XM_047434842.1:c.591C>T, XM_047434843.1:c.591C>T, XM_047434844.1:c.591C>T, XM_047434845.1:c.588C>T, XM_047434846.1:c.588C>T, XM_047434848.1:c.489C>T, XM_047434841.1:c.651C>T, XM_047434847.1:c.972C>T

        4.

        rs1486507844 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          16:672514 (GRCh38)
          16:722514 (GRCh37)
          Canonical SPDI:
          NC_000016.10:672513:C:T
          Gene:
          RHOT2 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000016.10:g.672514C>T, NC_000016.9:g.722514C>T, NG_031824.1:g.9432C>T, NM_138769.3:c.1352C>T, NM_138769.2:c.1352C>T, NM_001352289.2:c.689C>T, NM_001352289.1:c.689C>T, NM_001352290.2:c.689C>T, NM_001352290.1:c.689C>T, NM_001352293.2:c.689C>T, NM_001352293.1:c.689C>T, NM_001352292.2:c.689C>T, NM_001352292.1:c.689C>T, NM_001352288.2:c.689C>T, NM_001352288.1:c.689C>T, NR_147953.2:n.1465C>T, NR_147953.1:n.1514C>T, NR_147954.2:n.1439C>T, NR_147954.1:n.1488C>T, NR_147955.2:n.1434C>T, NR_147955.1:n.1483C>T, NM_001352291.2:c.689C>T, NM_001352291.1:c.689C>T, NM_001352275.2:c.1355C>T, NM_001352275.1:c.1355C>T, NR_147956.2:n.1422C>T, NR_147956.1:n.1471C>T, NM_001352283.2:c.971C>T, NM_001352283.1:c.971C>T, NM_001352280.2:c.1034C>T, NM_001352280.1:c.1034C>T, NM_001352294.2:c.689C>T, NM_001352294.1:c.689C>T, NM_001352281.2:c.1031C>T, NM_001352281.1:c.1031C>T, NM_001352276.2:c.1301C>T, NM_001352276.1:c.1301C>T, NM_001352277.2:c.1298C>T, NM_001352277.1:c.1298C>T, NM_001352282.2:c.1031C>T, NM_001352282.1:c.1031C>T, NM_001352278.2:c.1253C>T, NM_001352278.1:c.1253C>T, NM_001352284.2:c.935C>T, NM_001352284.1:c.935C>T, NM_001352285.2:c.932C>T, NM_001352285.1:c.932C>T, NM_001352279.2:c.1199C>T, NM_001352279.1:c.1199C>T, NM_001352286.2:c.875C>T, NM_001352286.1:c.875C>T, NM_001352287.1:c.689C>T, XM_047434840.1:c.1034C>T, XM_047434842.1:c.974C>T, XM_047434843.1:c.974C>T, XM_047434844.1:c.974C>T, XM_047434845.1:c.971C>T, XM_047434846.1:c.971C>T, XM_047434848.1:c.872C>T, XM_047434841.1:c.1034C>T, XM_047434847.1:c.1372C>T, NP_620124.1:p.Pro451Leu, NP_001339218.1:p.Pro230Leu, NP_001339219.1:p.Pro230Leu, NP_001339222.1:p.Pro230Leu, NP_001339221.1:p.Pro230Leu, NP_001339217.1:p.Pro230Leu, NP_001339220.1:p.Pro230Leu, NP_001339204.1:p.Pro452Leu, NP_001339212.1:p.Pro324Leu, NP_001339209.1:p.Pro345Leu, NP_001339223.1:p.Pro230Leu, NP_001339210.1:p.Pro344Leu, NP_001339205.1:p.Pro434Leu, NP_001339206.1:p.Pro433Leu, NP_001339211.1:p.Pro344Leu, NP_001339207.1:p.Pro418Leu, NP_001339213.1:p.Pro312Leu, NP_001339214.1:p.Pro311Leu, NP_001339208.1:p.Pro400Leu, NP_001339215.1:p.Pro292Leu, NP_001339216.1:p.Pro230Leu, XP_047290796.1:p.Pro345Leu, XP_047290798.1:p.Pro325Leu, XP_047290799.1:p.Pro325Leu, XP_047290800.1:p.Pro325Leu, XP_047290801.1:p.Pro324Leu, XP_047290802.1:p.Pro324Leu, XP_047290804.1:p.Pro291Leu, XP_047290797.1:p.Pro345Leu, XP_047290803.1:p.Pro458Ser

          5.

          rs1486420335 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            16:672983 (GRCh38)
            16:722983 (GRCh37)
            Canonical SPDI:
            NC_000016.10:672982:T:C
            Gene:
            RHOT2 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            C=0.000012/3 (GnomAD_exomes)
            HGVS:
            NC_000016.10:g.672983T>C, NC_000016.9:g.722983T>C, NG_031824.1:g.9901T>C, NM_138769.3:c.1583T>C, NM_138769.2:c.1583T>C, NM_001352289.2:c.920T>C, NM_001352289.1:c.920T>C, NM_001352290.2:c.920T>C, NM_001352290.1:c.920T>C, NM_001352293.2:c.920T>C, NM_001352293.1:c.920T>C, NM_001352292.2:c.920T>C, NM_001352292.1:c.920T>C, NM_001352288.2:c.920T>C, NM_001352288.1:c.920T>C, NR_147953.2:n.1696T>C, NR_147953.1:n.1745T>C, NR_147954.2:n.1670T>C, NR_147954.1:n.1719T>C, NR_147955.2:n.1665T>C, NR_147955.1:n.1714T>C, NM_001352291.2:c.920T>C, NM_001352291.1:c.920T>C, NM_001352275.2:c.1586T>C, NM_001352275.1:c.1586T>C, NR_147956.2:n.1653T>C, NR_147956.1:n.1702T>C, NM_001352283.2:c.1202T>C, NM_001352283.1:c.1202T>C, NM_001352280.2:c.1265T>C, NM_001352280.1:c.1265T>C, NM_001352294.2:c.920T>C, NM_001352294.1:c.920T>C, NM_001352281.2:c.1262T>C, NM_001352281.1:c.1262T>C, NM_001352276.2:c.1532T>C, NM_001352276.1:c.1532T>C, NM_001352277.2:c.1529T>C, NM_001352277.1:c.1529T>C, NM_001352282.2:c.1262T>C, NM_001352282.1:c.1262T>C, NM_001352278.2:c.1484T>C, NM_001352278.1:c.1484T>C, NM_001352284.2:c.1166T>C, NM_001352284.1:c.1166T>C, NM_001352285.2:c.1163T>C, NM_001352285.1:c.1163T>C, NM_001352279.2:c.1430T>C, NM_001352279.1:c.1430T>C, NM_001352286.2:c.1106T>C, NM_001352286.1:c.1106T>C, NM_001352287.1:c.920T>C, XM_047434840.1:c.1265T>C, XM_047434842.1:c.1205T>C, XM_047434843.1:c.1205T>C, XM_047434844.1:c.1205T>C, XM_047434845.1:c.1202T>C, XM_047434846.1:c.1202T>C, XM_047434848.1:c.1103T>C, XM_047434841.1:c.1265T>C, NP_620124.1:p.Leu528Pro, NP_001339218.1:p.Leu307Pro, NP_001339219.1:p.Leu307Pro, NP_001339222.1:p.Leu307Pro, NP_001339221.1:p.Leu307Pro, NP_001339217.1:p.Leu307Pro, NP_001339220.1:p.Leu307Pro, NP_001339204.1:p.Leu529Pro, NP_001339212.1:p.Leu401Pro, NP_001339209.1:p.Leu422Pro, NP_001339223.1:p.Leu307Pro, NP_001339210.1:p.Leu421Pro, NP_001339205.1:p.Leu511Pro, NP_001339206.1:p.Leu510Pro, NP_001339211.1:p.Leu421Pro, NP_001339207.1:p.Leu495Pro, NP_001339213.1:p.Leu389Pro, NP_001339214.1:p.Leu388Pro, NP_001339208.1:p.Leu477Pro, NP_001339215.1:p.Leu369Pro, NP_001339216.1:p.Leu307Pro, XP_047290796.1:p.Leu422Pro, XP_047290798.1:p.Leu402Pro, XP_047290799.1:p.Leu402Pro, XP_047290800.1:p.Leu402Pro, XP_047290801.1:p.Leu401Pro, XP_047290802.1:p.Leu401Pro, XP_047290804.1:p.Leu368Pro, XP_047290797.1:p.Leu422Pro

            6.

            rs1486146900 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              16:672270 (GRCh38)
              16:722270 (GRCh37)
              Canonical SPDI:
              NC_000016.10:672269:G:A,NC_000016.10:672269:G:T
              Gene:
              RHOT2 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000043/1 (ALFA)
              A=0.000016/4 (GnomAD_exomes)
              A=0.000021/3 (GnomAD)
              T=0.000035/1 (TOMMO)
              A=0.000038/10 (TOPMED)
              HGVS:
              NC_000016.10:g.672270G>A, NC_000016.10:g.672270G>T, NC_000016.9:g.722270G>A, NC_000016.9:g.722270G>T, NG_031824.1:g.9188G>A, NG_031824.1:g.9188G>T, NM_138769.3:c.1212G>A, NM_138769.3:c.1212G>T, NM_138769.2:c.1212G>A, NM_138769.2:c.1212G>T, NM_001352289.2:c.549G>A, NM_001352289.2:c.549G>T, NM_001352289.1:c.549G>A, NM_001352289.1:c.549G>T, NM_001352290.2:c.549G>A, NM_001352290.2:c.549G>T, NM_001352290.1:c.549G>A, NM_001352290.1:c.549G>T, NM_001352293.2:c.549G>A, NM_001352293.2:c.549G>T, NM_001352293.1:c.549G>A, NM_001352293.1:c.549G>T, NM_001352292.2:c.549G>A, NM_001352292.2:c.549G>T, NM_001352292.1:c.549G>A, NM_001352292.1:c.549G>T, NM_001352288.2:c.549G>A, NM_001352288.2:c.549G>T, NM_001352288.1:c.549G>A, NM_001352288.1:c.549G>T, NR_147953.2:n.1308G>A, NR_147953.2:n.1308G>T, NR_147953.1:n.1357G>A, NR_147953.1:n.1357G>T, NR_147954.2:n.1299G>A, NR_147954.2:n.1299G>T, NR_147954.1:n.1348G>A, NR_147954.1:n.1348G>T, NR_147955.2:n.1294G>A, NR_147955.2:n.1294G>T, NR_147955.1:n.1343G>A, NR_147955.1:n.1343G>T, NM_001352291.2:c.549G>A, NM_001352291.2:c.549G>T, NM_001352291.1:c.549G>A, NM_001352291.1:c.549G>T, NM_001352275.2:c.1215G>A, NM_001352275.2:c.1215G>T, NM_001352275.1:c.1215G>A, NM_001352275.1:c.1215G>T, NR_147956.2:n.1282G>A, NR_147956.2:n.1282G>T, NR_147956.1:n.1331G>A, NR_147956.1:n.1331G>T, NM_001352283.2:c.831G>A, NM_001352283.2:c.831G>T, NM_001352283.1:c.831G>A, NM_001352283.1:c.831G>T, NM_001352280.2:c.894G>A, NM_001352280.2:c.894G>T, NM_001352280.1:c.894G>A, NM_001352280.1:c.894G>T, NM_001352294.2:c.549G>A, NM_001352294.2:c.549G>T, NM_001352294.1:c.549G>A, NM_001352294.1:c.549G>T, NM_001352281.2:c.891G>A, NM_001352281.2:c.891G>T, NM_001352281.1:c.891G>A, NM_001352281.1:c.891G>T, NM_001352276.2:c.1161G>A, NM_001352276.2:c.1161G>T, NM_001352276.1:c.1161G>A, NM_001352276.1:c.1161G>T, NM_001352277.2:c.1158G>A, NM_001352277.2:c.1158G>T, NM_001352277.1:c.1158G>A, NM_001352277.1:c.1158G>T, NM_001352282.2:c.891G>A, NM_001352282.2:c.891G>T, NM_001352282.1:c.891G>A, NM_001352282.1:c.891G>T, NM_001352278.2:c.1113G>A, NM_001352278.2:c.1113G>T, NM_001352278.1:c.1113G>A, NM_001352278.1:c.1113G>T, NM_001352284.2:c.795G>A, NM_001352284.2:c.795G>T, NM_001352284.1:c.795G>A, NM_001352284.1:c.795G>T, NM_001352285.2:c.792G>A, NM_001352285.2:c.792G>T, NM_001352285.1:c.792G>A, NM_001352285.1:c.792G>T, NM_001352279.2:c.1059G>A, NM_001352279.2:c.1059G>T, NM_001352279.1:c.1059G>A, NM_001352279.1:c.1059G>T, NM_001352286.2:c.735G>A, NM_001352286.2:c.735G>T, NM_001352286.1:c.735G>A, NM_001352286.1:c.735G>T, NM_001352287.1:c.549G>A, NM_001352287.1:c.549G>T, XM_047434840.1:c.894G>A, XM_047434840.1:c.894G>T, XM_047434842.1:c.834G>A, XM_047434842.1:c.834G>T, XM_047434843.1:c.834G>A, XM_047434843.1:c.834G>T, XM_047434844.1:c.834G>A, XM_047434844.1:c.834G>T, XM_047434845.1:c.831G>A, XM_047434845.1:c.831G>T, XM_047434846.1:c.831G>A, XM_047434846.1:c.831G>T, XM_047434848.1:c.732G>A, XM_047434848.1:c.732G>T, XM_047434841.1:c.894G>A, XM_047434841.1:c.894G>T, XM_047434847.1:c.1215G>A, XM_047434847.1:c.1215G>T, NP_620124.1:p.Arg404Ser, NP_001339218.1:p.Arg183Ser, NP_001339219.1:p.Arg183Ser, NP_001339222.1:p.Arg183Ser, NP_001339221.1:p.Arg183Ser, NP_001339217.1:p.Arg183Ser, NP_001339220.1:p.Arg183Ser, NP_001339204.1:p.Arg405Ser, NP_001339212.1:p.Arg277Ser, NP_001339209.1:p.Arg298Ser, NP_001339223.1:p.Arg183Ser, NP_001339210.1:p.Arg297Ser, NP_001339205.1:p.Arg387Ser, NP_001339206.1:p.Arg386Ser, NP_001339211.1:p.Arg297Ser, NP_001339207.1:p.Arg371Ser, NP_001339213.1:p.Arg265Ser, NP_001339214.1:p.Arg264Ser, NP_001339208.1:p.Arg353Ser, NP_001339215.1:p.Arg245Ser, NP_001339216.1:p.Arg183Ser, XP_047290796.1:p.Arg298Ser, XP_047290798.1:p.Arg278Ser, XP_047290799.1:p.Arg278Ser, XP_047290800.1:p.Arg278Ser, XP_047290801.1:p.Arg277Ser, XP_047290802.1:p.Arg277Ser, XP_047290804.1:p.Arg244Ser, XP_047290797.1:p.Arg298Ser, XP_047290803.1:p.Arg405Ser

              7.

              rs1484982762 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C,T [Show Flanks]
                Chromosome:
                16:673585 (GRCh38)
                16:723585 (GRCh37)
                Canonical SPDI:
                NC_000016.10:673584:G:C,NC_000016.10:673584:G:T
                Gene:
                RHOT2 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000031/1 (ALFA)
                C=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                C=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000016.10:g.673585G>C, NC_000016.10:g.673585G>T, NC_000016.9:g.723585G>C, NC_000016.9:g.723585G>T, NG_031824.1:g.10503G>C, NG_031824.1:g.10503G>T, NM_138769.3:c.1836G>C, NM_138769.3:c.1836G>T, NM_138769.2:c.1836G>C, NM_138769.2:c.1836G>T, NM_001352289.2:c.1173G>C, NM_001352289.2:c.1173G>T, NM_001352289.1:c.1173G>C, NM_001352289.1:c.1173G>T, NM_001352290.2:c.1173G>C, NM_001352290.2:c.1173G>T, NM_001352290.1:c.1173G>C, NM_001352290.1:c.1173G>T, NM_001352293.2:c.1173G>C, NM_001352293.2:c.1173G>T, NM_001352293.1:c.1173G>C, NM_001352293.1:c.1173G>T, NM_001352292.2:c.1173G>C, NM_001352292.2:c.1173G>T, NM_001352292.1:c.1173G>C, NM_001352292.1:c.1173G>T, NM_001352288.2:c.1173G>C, NM_001352288.2:c.1173G>T, NM_001352288.1:c.1173G>C, NM_001352288.1:c.1173G>T, NR_147953.2:n.1949G>C, NR_147953.2:n.1949G>T, NR_147953.1:n.1998G>C, NR_147953.1:n.1998G>T, NR_147954.2:n.1923G>C, NR_147954.2:n.1923G>T, NR_147954.1:n.1972G>C, NR_147954.1:n.1972G>T, NR_147955.2:n.1918G>C, NR_147955.2:n.1918G>T, NR_147955.1:n.1967G>C, NR_147955.1:n.1967G>T, NM_001352291.2:c.1173G>C, NM_001352291.2:c.1173G>T, NM_001352291.1:c.1173G>C, NM_001352291.1:c.1173G>T, NM_001352275.2:c.1839G>C, NM_001352275.2:c.1839G>T, NM_001352275.1:c.1839G>C, NM_001352275.1:c.1839G>T, NR_147956.2:n.1906G>C, NR_147956.2:n.1906G>T, NR_147956.1:n.1955G>C, NR_147956.1:n.1955G>T, NM_001352283.2:c.1455G>C, NM_001352283.2:c.1455G>T, NM_001352283.1:c.1455G>C, NM_001352283.1:c.1455G>T, NM_001352280.2:c.1518G>C, NM_001352280.2:c.1518G>T, NM_001352280.1:c.1518G>C, NM_001352280.1:c.1518G>T, NM_001352294.2:c.1173G>C, NM_001352294.2:c.1173G>T, NM_001352294.1:c.1173G>C, NM_001352294.1:c.1173G>T, NM_001352281.2:c.1515G>C, NM_001352281.2:c.1515G>T, NM_001352281.1:c.1515G>C, NM_001352281.1:c.1515G>T, NM_001352276.2:c.1785G>C, NM_001352276.2:c.1785G>T, NM_001352276.1:c.1785G>C, NM_001352276.1:c.1785G>T, NM_001352277.2:c.1782G>C, NM_001352277.2:c.1782G>T, NM_001352277.1:c.1782G>C, NM_001352277.1:c.1782G>T, NM_001352282.2:c.1515G>C, NM_001352282.2:c.1515G>T, NM_001352282.1:c.1515G>C, NM_001352282.1:c.1515G>T, NM_001352278.2:c.1737G>C, NM_001352278.2:c.1737G>T, NM_001352278.1:c.1737G>C, NM_001352278.1:c.1737G>T, NM_001352284.2:c.1419G>C, NM_001352284.2:c.1419G>T, NM_001352284.1:c.1419G>C, NM_001352284.1:c.1419G>T, NM_001352285.2:c.1416G>C, NM_001352285.2:c.1416G>T, NM_001352285.1:c.1416G>C, NM_001352285.1:c.1416G>T, NM_001352279.2:c.1683G>C, NM_001352279.2:c.1683G>T, NM_001352279.1:c.1683G>C, NM_001352279.1:c.1683G>T, NM_001352286.2:c.1359G>C, NM_001352286.2:c.1359G>T, NM_001352286.1:c.1359G>C, NM_001352286.1:c.1359G>T, NM_001352287.1:c.1173G>C, NM_001352287.1:c.1173G>T, XM_047434840.1:c.1518G>C, XM_047434840.1:c.1518G>T, XM_047434842.1:c.1458G>C, XM_047434842.1:c.1458G>T, XM_047434843.1:c.1458G>C, XM_047434843.1:c.1458G>T, XM_047434844.1:c.1458G>C, XM_047434844.1:c.1458G>T, XM_047434845.1:c.1455G>C, XM_047434845.1:c.1455G>T, XM_047434846.1:c.1455G>C, XM_047434846.1:c.1455G>T, XM_047434848.1:c.1356G>C, XM_047434848.1:c.1356G>T, XM_047434841.1:c.1518G>C, XM_047434841.1:c.1518G>T, NP_620124.1:p.Arg612Ser, NP_620124.1:p.Arg612Ser, NP_001339218.1:p.Arg391Ser, NP_001339218.1:p.Arg391Ser, NP_001339219.1:p.Arg391Ser, NP_001339219.1:p.Arg391Ser, NP_001339222.1:p.Arg391Ser, NP_001339222.1:p.Arg391Ser, NP_001339221.1:p.Arg391Ser, NP_001339221.1:p.Arg391Ser, NP_001339217.1:p.Arg391Ser, NP_001339217.1:p.Arg391Ser, NP_001339220.1:p.Arg391Ser, NP_001339220.1:p.Arg391Ser, NP_001339204.1:p.Arg613Ser, NP_001339204.1:p.Arg613Ser, NP_001339212.1:p.Arg485Ser, NP_001339212.1:p.Arg485Ser, NP_001339209.1:p.Arg506Ser, NP_001339209.1:p.Arg506Ser, NP_001339223.1:p.Arg391Ser, NP_001339223.1:p.Arg391Ser, NP_001339210.1:p.Arg505Ser, NP_001339210.1:p.Arg505Ser, NP_001339205.1:p.Arg595Ser, NP_001339205.1:p.Arg595Ser, NP_001339206.1:p.Arg594Ser, NP_001339206.1:p.Arg594Ser, NP_001339211.1:p.Arg505Ser, NP_001339211.1:p.Arg505Ser, NP_001339207.1:p.Arg579Ser, NP_001339207.1:p.Arg579Ser, NP_001339213.1:p.Arg473Ser, NP_001339213.1:p.Arg473Ser, NP_001339214.1:p.Arg472Ser, NP_001339214.1:p.Arg472Ser, NP_001339208.1:p.Arg561Ser, NP_001339208.1:p.Arg561Ser, NP_001339215.1:p.Arg453Ser, NP_001339215.1:p.Arg453Ser, NP_001339216.1:p.Arg391Ser, NP_001339216.1:p.Arg391Ser, XP_047290796.1:p.Arg506Ser, XP_047290796.1:p.Arg506Ser, XP_047290798.1:p.Arg486Ser, XP_047290798.1:p.Arg486Ser, XP_047290799.1:p.Arg486Ser, XP_047290799.1:p.Arg486Ser, XP_047290800.1:p.Arg486Ser, XP_047290800.1:p.Arg486Ser, XP_047290801.1:p.Arg485Ser, XP_047290801.1:p.Arg485Ser, XP_047290802.1:p.Arg485Ser, XP_047290802.1:p.Arg485Ser, XP_047290804.1:p.Arg452Ser, XP_047290804.1:p.Arg452Ser, XP_047290797.1:p.Arg506Ser, XP_047290797.1:p.Arg506Ser

                8.

                rs1484897996 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  16:672549 (GRCh38)
                  16:722549 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:672548:C:A
                  Gene:
                  RHOT2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000016.10:g.672549C>A, NC_000016.9:g.722549C>A, NG_031824.1:g.9467C>A, NM_138769.3:c.1387C>A, NM_138769.2:c.1387C>A, NM_001352289.2:c.724C>A, NM_001352289.1:c.724C>A, NM_001352290.2:c.724C>A, NM_001352290.1:c.724C>A, NM_001352293.2:c.724C>A, NM_001352293.1:c.724C>A, NM_001352292.2:c.724C>A, NM_001352292.1:c.724C>A, NM_001352288.2:c.724C>A, NM_001352288.1:c.724C>A, NR_147953.2:n.1500C>A, NR_147953.1:n.1549C>A, NR_147954.2:n.1474C>A, NR_147954.1:n.1523C>A, NR_147955.2:n.1469C>A, NR_147955.1:n.1518C>A, NM_001352291.2:c.724C>A, NM_001352291.1:c.724C>A, NM_001352275.2:c.1390C>A, NM_001352275.1:c.1390C>A, NR_147956.2:n.1457C>A, NR_147956.1:n.1506C>A, NM_001352283.2:c.1006C>A, NM_001352283.1:c.1006C>A, NM_001352280.2:c.1069C>A, NM_001352280.1:c.1069C>A, NM_001352294.2:c.724C>A, NM_001352294.1:c.724C>A, NM_001352281.2:c.1066C>A, NM_001352281.1:c.1066C>A, NM_001352276.2:c.1336C>A, NM_001352276.1:c.1336C>A, NM_001352277.2:c.1333C>A, NM_001352277.1:c.1333C>A, NM_001352282.2:c.1066C>A, NM_001352282.1:c.1066C>A, NM_001352278.2:c.1288C>A, NM_001352278.1:c.1288C>A, NM_001352284.2:c.970C>A, NM_001352284.1:c.970C>A, NM_001352285.2:c.967C>A, NM_001352285.1:c.967C>A, NM_001352279.2:c.1234C>A, NM_001352279.1:c.1234C>A, NM_001352286.2:c.910C>A, NM_001352286.1:c.910C>A, NM_001352287.1:c.724C>A, XM_047434840.1:c.1069C>A, XM_047434842.1:c.1009C>A, XM_047434843.1:c.1009C>A, XM_047434844.1:c.1009C>A, XM_047434845.1:c.1006C>A, XM_047434846.1:c.1006C>A, XM_047434848.1:c.907C>A, XM_047434841.1:c.1069C>A, XM_047434847.1:c.1407C>A, NP_620124.1:p.Gln463Lys, NP_001339218.1:p.Gln242Lys, NP_001339219.1:p.Gln242Lys, NP_001339222.1:p.Gln242Lys, NP_001339221.1:p.Gln242Lys, NP_001339217.1:p.Gln242Lys, NP_001339220.1:p.Gln242Lys, NP_001339204.1:p.Gln464Lys, NP_001339212.1:p.Gln336Lys, NP_001339209.1:p.Gln357Lys, NP_001339223.1:p.Gln242Lys, NP_001339210.1:p.Gln356Lys, NP_001339205.1:p.Gln446Lys, NP_001339206.1:p.Gln445Lys, NP_001339211.1:p.Gln356Lys, NP_001339207.1:p.Gln430Lys, NP_001339213.1:p.Gln324Lys, NP_001339214.1:p.Gln323Lys, NP_001339208.1:p.Gln412Lys, NP_001339215.1:p.Gln304Lys, NP_001339216.1:p.Gln242Lys, XP_047290796.1:p.Gln357Lys, XP_047290798.1:p.Gln337Lys, XP_047290799.1:p.Gln337Lys, XP_047290800.1:p.Gln337Lys, XP_047290801.1:p.Gln336Lys, XP_047290802.1:p.Gln336Lys, XP_047290804.1:p.Gln303Lys, XP_047290797.1:p.Gln357Lys, XP_047290803.1:p.Asp469Glu

                  9.

                  rs1480352815 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    16:671116 (GRCh38)
                    16:721116 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:671115:G:A
                    Gene:
                    RHOT2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000035/1 (TOMMO)
                    HGVS:
                    NC_000016.10:g.671116G>A, NC_000016.9:g.721116G>A, NG_031824.1:g.8034G>A, NM_138769.3:c.782G>A, NM_138769.2:c.782G>A, NM_001352289.2:c.119G>A, NM_001352289.1:c.119G>A, NM_001352290.2:c.119G>A, NM_001352290.1:c.119G>A, NM_001352293.2:c.119G>A, NM_001352293.1:c.119G>A, NM_001352292.2:c.119G>A, NM_001352292.1:c.119G>A, NM_001352288.2:c.119G>A, NM_001352288.1:c.119G>A, NR_147953.2:n.878G>A, NR_147953.1:n.927G>A, NR_147954.2:n.869G>A, NR_147954.1:n.918G>A, NR_147955.2:n.864G>A, NR_147955.1:n.913G>A, NM_001352291.2:c.119G>A, NM_001352291.1:c.119G>A, NM_001352275.2:c.785G>A, NM_001352275.1:c.785G>A, NR_147956.2:n.852G>A, NR_147956.1:n.901G>A, NM_001352283.2:c.401G>A, NM_001352283.1:c.401G>A, NM_001352280.2:c.464G>A, NM_001352280.1:c.464G>A, NM_001352294.2:c.119G>A, NM_001352294.1:c.119G>A, NM_001352281.2:c.461G>A, NM_001352281.1:c.461G>A, NM_001352276.2:c.731G>A, NM_001352276.1:c.731G>A, NM_001352277.2:c.728G>A, NM_001352277.1:c.728G>A, NM_001352282.2:c.461G>A, NM_001352282.1:c.461G>A, NM_001352278.2:c.683G>A, NM_001352278.1:c.683G>A, NM_001352284.2:c.365G>A, NM_001352284.1:c.365G>A, NM_001352285.2:c.362G>A, NM_001352285.1:c.362G>A, NM_001352279.2:c.629G>A, NM_001352279.1:c.629G>A, NM_001352286.2:c.305G>A, NM_001352286.1:c.305G>A, NM_001352287.1:c.119G>A, XM_047434840.1:c.464G>A, XM_047434842.1:c.404G>A, XM_047434843.1:c.404G>A, XM_047434844.1:c.404G>A, XM_047434845.1:c.401G>A, XM_047434846.1:c.401G>A, XM_047434848.1:c.302G>A, XM_047434841.1:c.464G>A, XM_047434847.1:c.785G>A, NP_620124.1:p.Arg261His, NP_001339218.1:p.Arg40His, NP_001339219.1:p.Arg40His, NP_001339222.1:p.Arg40His, NP_001339221.1:p.Arg40His, NP_001339217.1:p.Arg40His, NP_001339220.1:p.Arg40His, NP_001339204.1:p.Arg262His, NP_001339212.1:p.Arg134His, NP_001339209.1:p.Arg155His, NP_001339223.1:p.Arg40His, NP_001339210.1:p.Arg154His, NP_001339205.1:p.Arg244His, NP_001339206.1:p.Arg243His, NP_001339211.1:p.Arg154His, NP_001339207.1:p.Arg228His, NP_001339213.1:p.Arg122His, NP_001339214.1:p.Arg121His, NP_001339208.1:p.Arg210His, NP_001339215.1:p.Arg102His, NP_001339216.1:p.Arg40His, XP_047290796.1:p.Arg155His, XP_047290798.1:p.Arg135His, XP_047290799.1:p.Arg135His, XP_047290800.1:p.Arg135His, XP_047290801.1:p.Arg134His, XP_047290802.1:p.Arg134His, XP_047290804.1:p.Arg101His, XP_047290797.1:p.Arg155His, XP_047290803.1:p.Arg262His

                    10.

                    rs1479966701 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      16:671725 (GRCh38)
                      16:721725 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:671724:G:C
                      Gene:
                      RHOT2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000016.10:g.671725G>C, NC_000016.9:g.721725G>C, NG_031824.1:g.8643G>C, NM_138769.3:c.898G>C, NM_138769.2:c.898G>C, NM_001352289.2:c.235G>C, NM_001352289.1:c.235G>C, NM_001352290.2:c.235G>C, NM_001352290.1:c.235G>C, NM_001352293.2:c.235G>C, NM_001352293.1:c.235G>C, NM_001352292.2:c.235G>C, NM_001352292.1:c.235G>C, NM_001352288.2:c.235G>C, NM_001352288.1:c.235G>C, NR_147953.2:n.994G>C, NR_147953.1:n.1043G>C, NR_147954.2:n.985G>C, NR_147954.1:n.1034G>C, NR_147955.2:n.980G>C, NR_147955.1:n.1029G>C, NM_001352291.2:c.235G>C, NM_001352291.1:c.235G>C, NM_001352275.2:c.901G>C, NM_001352275.1:c.901G>C, NR_147956.2:n.968G>C, NR_147956.1:n.1017G>C, NM_001352283.2:c.517G>C, NM_001352283.1:c.517G>C, NM_001352280.2:c.580G>C, NM_001352280.1:c.580G>C, NM_001352294.2:c.235G>C, NM_001352294.1:c.235G>C, NM_001352281.2:c.577G>C, NM_001352281.1:c.577G>C, NM_001352276.2:c.847G>C, NM_001352276.1:c.847G>C, NM_001352277.2:c.844G>C, NM_001352277.1:c.844G>C, NM_001352282.2:c.577G>C, NM_001352282.1:c.577G>C, NM_001352278.2:c.799G>C, NM_001352278.1:c.799G>C, NM_001352284.2:c.481G>C, NM_001352284.1:c.481G>C, NM_001352285.2:c.478G>C, NM_001352285.1:c.478G>C, NM_001352279.2:c.745G>C, NM_001352279.1:c.745G>C, NM_001352286.2:c.421G>C, NM_001352286.1:c.421G>C, NM_001352287.1:c.235G>C, XM_047434840.1:c.580G>C, XM_047434842.1:c.520G>C, XM_047434843.1:c.520G>C, XM_047434844.1:c.520G>C, XM_047434845.1:c.517G>C, XM_047434846.1:c.517G>C, XM_047434848.1:c.418G>C, XM_047434841.1:c.580G>C, XM_047434847.1:c.901G>C, NP_620124.1:p.Glu300Gln, NP_001339218.1:p.Glu79Gln, NP_001339219.1:p.Glu79Gln, NP_001339222.1:p.Glu79Gln, NP_001339221.1:p.Glu79Gln, NP_001339217.1:p.Glu79Gln, NP_001339220.1:p.Glu79Gln, NP_001339204.1:p.Glu301Gln, NP_001339212.1:p.Glu173Gln, NP_001339209.1:p.Glu194Gln, NP_001339223.1:p.Glu79Gln, NP_001339210.1:p.Glu193Gln, NP_001339205.1:p.Glu283Gln, NP_001339206.1:p.Glu282Gln, NP_001339211.1:p.Glu193Gln, NP_001339207.1:p.Glu267Gln, NP_001339213.1:p.Glu161Gln, NP_001339214.1:p.Glu160Gln, NP_001339208.1:p.Glu249Gln, NP_001339215.1:p.Glu141Gln, NP_001339216.1:p.Glu79Gln, XP_047290796.1:p.Glu194Gln, XP_047290798.1:p.Glu174Gln, XP_047290799.1:p.Glu174Gln, XP_047290800.1:p.Glu174Gln, XP_047290801.1:p.Glu173Gln, XP_047290802.1:p.Glu173Gln, XP_047290804.1:p.Glu140Gln, XP_047290797.1:p.Glu194Gln, XP_047290803.1:p.Glu301Gln

                      11.

                      rs1479503701 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C,T [Show Flanks]
                        Chromosome:
                        16:671028 (GRCh38)
                        16:721028 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:671027:G:C,NC_000016.10:671027:G:T
                        Gene:
                        RHOT2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,intron_variant,non_coding_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_000016.10:g.671028G>C, NC_000016.10:g.671028G>T, NC_000016.9:g.721028G>C, NC_000016.9:g.721028G>T, NG_031824.1:g.7946G>C, NG_031824.1:g.7946G>T, NM_001352289.2:c.31G>C, NM_001352289.2:c.31G>T, NM_001352289.1:c.31G>C, NM_001352289.1:c.31G>T, NM_001352290.2:c.31G>C, NM_001352290.2:c.31G>T, NM_001352290.1:c.31G>C, NM_001352290.1:c.31G>T, NM_001352293.2:c.31G>C, NM_001352293.2:c.31G>T, NM_001352293.1:c.31G>C, NM_001352293.1:c.31G>T, NM_001352292.2:c.31G>C, NM_001352292.2:c.31G>T, NM_001352292.1:c.31G>C, NM_001352292.1:c.31G>T, NM_001352288.2:c.31G>C, NM_001352288.2:c.31G>T, NM_001352288.1:c.31G>C, NM_001352288.1:c.31G>T, NR_147953.2:n.790G>C, NR_147953.2:n.790G>T, NR_147953.1:n.839G>C, NR_147953.1:n.839G>T, NM_001352291.2:c.31G>C, NM_001352291.2:c.31G>T, NM_001352291.1:c.31G>C, NM_001352291.1:c.31G>T, NM_001352294.2:c.31G>C, NM_001352294.2:c.31G>T, NM_001352294.1:c.31G>C, NM_001352294.1:c.31G>T, NM_001352287.1:c.31G>C, NM_001352287.1:c.31G>T, NP_001339218.1:p.Gly11Arg, NP_001339218.1:p.Gly11Trp, NP_001339219.1:p.Gly11Arg, NP_001339219.1:p.Gly11Trp, NP_001339222.1:p.Gly11Arg, NP_001339222.1:p.Gly11Trp, NP_001339221.1:p.Gly11Arg, NP_001339221.1:p.Gly11Trp, NP_001339217.1:p.Gly11Arg, NP_001339217.1:p.Gly11Trp, NP_001339220.1:p.Gly11Arg, NP_001339220.1:p.Gly11Trp, NP_001339223.1:p.Gly11Arg, NP_001339223.1:p.Gly11Trp, NP_001339216.1:p.Gly11Arg, NP_001339216.1:p.Gly11Trp

                        12.

                        rs1478244897 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          16:671889 (GRCh38)
                          16:721889 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:671888:G:T
                          Gene:
                          RHOT2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          T=0.000004/1 (TOPMED)
                          T=0.000016/2 (GnomAD)
                          HGVS:
                          NC_000016.10:g.671889G>T, NC_000016.9:g.721889G>T, NG_031824.1:g.8807G>T, NM_138769.3:c.984G>T, NM_138769.2:c.984G>T, NM_001352289.2:c.321G>T, NM_001352289.1:c.321G>T, NM_001352290.2:c.321G>T, NM_001352290.1:c.321G>T, NM_001352293.2:c.321G>T, NM_001352293.1:c.321G>T, NM_001352292.2:c.321G>T, NM_001352292.1:c.321G>T, NM_001352288.2:c.321G>T, NM_001352288.1:c.321G>T, NR_147953.2:n.1080G>T, NR_147953.1:n.1129G>T, NR_147954.2:n.1071G>T, NR_147954.1:n.1120G>T, NR_147955.2:n.1066G>T, NR_147955.1:n.1115G>T, NM_001352291.2:c.321G>T, NM_001352291.1:c.321G>T, NM_001352275.2:c.987G>T, NM_001352275.1:c.987G>T, NR_147956.2:n.1054G>T, NR_147956.1:n.1103G>T, NM_001352283.2:c.603G>T, NM_001352283.1:c.603G>T, NM_001352280.2:c.666G>T, NM_001352280.1:c.666G>T, NM_001352294.2:c.321G>T, NM_001352294.1:c.321G>T, NM_001352281.2:c.663G>T, NM_001352281.1:c.663G>T, NM_001352276.2:c.933G>T, NM_001352276.1:c.933G>T, NM_001352277.2:c.930G>T, NM_001352277.1:c.930G>T, NM_001352282.2:c.663G>T, NM_001352282.1:c.663G>T, NM_001352278.2:c.885G>T, NM_001352278.1:c.885G>T, NM_001352284.2:c.567G>T, NM_001352284.1:c.567G>T, NM_001352285.2:c.564G>T, NM_001352285.1:c.564G>T, NM_001352279.2:c.831G>T, NM_001352279.1:c.831G>T, NM_001352286.2:c.507G>T, NM_001352286.1:c.507G>T, NM_001352287.1:c.321G>T, XM_047434840.1:c.666G>T, XM_047434842.1:c.606G>T, XM_047434843.1:c.606G>T, XM_047434844.1:c.606G>T, XM_047434845.1:c.603G>T, XM_047434846.1:c.603G>T, XM_047434848.1:c.504G>T, XM_047434841.1:c.666G>T, XM_047434847.1:c.987G>T, NP_620124.1:p.Glu328Asp, NP_001339218.1:p.Glu107Asp, NP_001339219.1:p.Glu107Asp, NP_001339222.1:p.Glu107Asp, NP_001339221.1:p.Glu107Asp, NP_001339217.1:p.Glu107Asp, NP_001339220.1:p.Glu107Asp, NP_001339204.1:p.Glu329Asp, NP_001339212.1:p.Glu201Asp, NP_001339209.1:p.Glu222Asp, NP_001339223.1:p.Glu107Asp, NP_001339210.1:p.Glu221Asp, NP_001339205.1:p.Glu311Asp, NP_001339206.1:p.Glu310Asp, NP_001339211.1:p.Glu221Asp, NP_001339207.1:p.Glu295Asp, NP_001339213.1:p.Glu189Asp, NP_001339214.1:p.Glu188Asp, NP_001339208.1:p.Glu277Asp, NP_001339215.1:p.Glu169Asp, NP_001339216.1:p.Glu107Asp, XP_047290796.1:p.Glu222Asp, XP_047290798.1:p.Glu202Asp, XP_047290799.1:p.Glu202Asp, XP_047290800.1:p.Glu202Asp, XP_047290801.1:p.Glu201Asp, XP_047290802.1:p.Glu201Asp, XP_047290804.1:p.Glu168Asp, XP_047290797.1:p.Glu222Asp, XP_047290803.1:p.Glu329Asp

                          13.

                          rs1477590280 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            16:672286 (GRCh38)
                            16:722286 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:672285:G:A
                            Gene:
                            RHOT2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0./0 (GnomAD)
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000016.10:g.672286G>A, NC_000016.9:g.722286G>A, NG_031824.1:g.9204G>A, NM_138769.3:c.1228G>A, NM_138769.2:c.1228G>A, NM_001352289.2:c.565G>A, NM_001352289.1:c.565G>A, NM_001352290.2:c.565G>A, NM_001352290.1:c.565G>A, NM_001352293.2:c.565G>A, NM_001352293.1:c.565G>A, NM_001352292.2:c.565G>A, NM_001352292.1:c.565G>A, NM_001352288.2:c.565G>A, NM_001352288.1:c.565G>A, NR_147953.2:n.1324G>A, NR_147953.1:n.1373G>A, NR_147954.2:n.1315G>A, NR_147954.1:n.1364G>A, NR_147955.2:n.1310G>A, NR_147955.1:n.1359G>A, NM_001352291.2:c.565G>A, NM_001352291.1:c.565G>A, NM_001352275.2:c.1231G>A, NM_001352275.1:c.1231G>A, NR_147956.2:n.1298G>A, NR_147956.1:n.1347G>A, NM_001352283.2:c.847G>A, NM_001352283.1:c.847G>A, NM_001352280.2:c.910G>A, NM_001352280.1:c.910G>A, NM_001352294.2:c.565G>A, NM_001352294.1:c.565G>A, NM_001352281.2:c.907G>A, NM_001352281.1:c.907G>A, NM_001352276.2:c.1177G>A, NM_001352276.1:c.1177G>A, NM_001352277.2:c.1174G>A, NM_001352277.1:c.1174G>A, NM_001352282.2:c.907G>A, NM_001352282.1:c.907G>A, NM_001352278.2:c.1129G>A, NM_001352278.1:c.1129G>A, NM_001352284.2:c.811G>A, NM_001352284.1:c.811G>A, NM_001352285.2:c.808G>A, NM_001352285.1:c.808G>A, NM_001352279.2:c.1075G>A, NM_001352279.1:c.1075G>A, NM_001352286.2:c.751G>A, NM_001352286.1:c.751G>A, NM_001352287.1:c.565G>A, XM_047434840.1:c.910G>A, XM_047434842.1:c.850G>A, XM_047434843.1:c.850G>A, XM_047434844.1:c.850G>A, XM_047434845.1:c.847G>A, XM_047434846.1:c.847G>A, XM_047434848.1:c.748G>A, XM_047434841.1:c.910G>A, XM_047434847.1:c.1231G>A, NP_620124.1:p.Gly410Arg, NP_001339218.1:p.Gly189Arg, NP_001339219.1:p.Gly189Arg, NP_001339222.1:p.Gly189Arg, NP_001339221.1:p.Gly189Arg, NP_001339217.1:p.Gly189Arg, NP_001339220.1:p.Gly189Arg, NP_001339204.1:p.Gly411Arg, NP_001339212.1:p.Gly283Arg, NP_001339209.1:p.Gly304Arg, NP_001339223.1:p.Gly189Arg, NP_001339210.1:p.Gly303Arg, NP_001339205.1:p.Gly393Arg, NP_001339206.1:p.Gly392Arg, NP_001339211.1:p.Gly303Arg, NP_001339207.1:p.Gly377Arg, NP_001339213.1:p.Gly271Arg, NP_001339214.1:p.Gly270Arg, NP_001339208.1:p.Gly359Arg, NP_001339215.1:p.Gly251Arg, NP_001339216.1:p.Gly189Arg, XP_047290796.1:p.Gly304Arg, XP_047290798.1:p.Gly284Arg, XP_047290799.1:p.Gly284Arg, XP_047290800.1:p.Gly284Arg, XP_047290801.1:p.Gly283Arg, XP_047290802.1:p.Gly283Arg, XP_047290804.1:p.Gly250Arg, XP_047290797.1:p.Gly304Arg, XP_047290803.1:p.Gly411Arg

                            14.

                            rs1474135104 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->CCTCAGC [Show Flanks]
                              Chromosome:
                              16:673563 (GRCh38)
                              16:723564 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:673563:CCTCAGC:CCTCAGCCCTCAGC
                              Gene:
                              RHOT2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              CCTCAGCCCTCAGC=0./0 (ALFA)
                              CCTCAGC=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000016.10:g.673564_673570dup, NC_000016.9:g.723564_723570dup, NG_031824.1:g.10482_10488dup, NM_138769.3:c.1815_1821dup, NM_138769.2:c.1815_1821dup, NM_001352289.2:c.1152_1158dup, NM_001352289.1:c.1152_1158dup, NM_001352290.2:c.1152_1158dup, NM_001352290.1:c.1152_1158dup, NM_001352293.2:c.1152_1158dup, NM_001352293.1:c.1152_1158dup, NM_001352292.2:c.1152_1158dup, NM_001352292.1:c.1152_1158dup, NM_001352288.2:c.1152_1158dup, NM_001352288.1:c.1152_1158dup, NR_147953.2:n.1928_1934dup, NR_147953.1:n.1977_1983dup, NR_147954.2:n.1902_1908dup, NR_147954.1:n.1951_1957dup, NR_147955.2:n.1897_1903dup, NR_147955.1:n.1946_1952dup, NM_001352291.2:c.1152_1158dup, NM_001352291.1:c.1152_1158dup, NM_001352275.2:c.1818_1824dup, NM_001352275.1:c.1818_1824dup, NR_147956.2:n.1885_1891dup, NR_147956.1:n.1934_1940dup, NM_001352283.2:c.1434_1440dup, NM_001352283.1:c.1434_1440dup, NM_001352280.2:c.1497_1503dup, NM_001352280.1:c.1497_1503dup, NM_001352294.2:c.1152_1158dup, NM_001352294.1:c.1152_1158dup, NM_001352281.2:c.1494_1500dup, NM_001352281.1:c.1494_1500dup, NM_001352276.2:c.1764_1770dup, NM_001352276.1:c.1764_1770dup, NM_001352277.2:c.1761_1767dup, NM_001352277.1:c.1761_1767dup, NM_001352282.2:c.1494_1500dup, NM_001352282.1:c.1494_1500dup, NM_001352278.2:c.1716_1722dup, NM_001352278.1:c.1716_1722dup, NM_001352284.2:c.1398_1404dup, NM_001352284.1:c.1398_1404dup, NM_001352285.2:c.1395_1401dup, NM_001352285.1:c.1395_1401dup, NM_001352279.2:c.1662_1668dup, NM_001352279.1:c.1662_1668dup, NM_001352286.2:c.1338_1344dup, NM_001352286.1:c.1338_1344dup, NM_001352287.1:c.1152_1158dup, XM_047434840.1:c.1497_1503dup, XM_047434842.1:c.1437_1443dup, XM_047434843.1:c.1437_1443dup, XM_047434844.1:c.1437_1443dup, XM_047434845.1:c.1434_1440dup, XM_047434846.1:c.1434_1440dup, XM_047434848.1:c.1335_1341dup, XM_047434841.1:c.1497_1503dup, NP_620124.1:p.Phe608fs, NP_001339218.1:p.Phe387fs, NP_001339219.1:p.Phe387fs, NP_001339222.1:p.Phe387fs, NP_001339221.1:p.Phe387fs, NP_001339217.1:p.Phe387fs, NP_001339220.1:p.Phe387fs, NP_001339204.1:p.Phe609fs, NP_001339212.1:p.Phe481fs, NP_001339209.1:p.Phe502fs, NP_001339223.1:p.Phe387fs, NP_001339210.1:p.Phe501fs, NP_001339205.1:p.Phe591fs, NP_001339206.1:p.Phe590fs, NP_001339211.1:p.Phe501fs, NP_001339207.1:p.Phe575fs, NP_001339213.1:p.Phe469fs, NP_001339214.1:p.Phe468fs, NP_001339208.1:p.Phe557fs, NP_001339215.1:p.Phe449fs, NP_001339216.1:p.Phe387fs, XP_047290796.1:p.Phe502fs, XP_047290798.1:p.Phe482fs, XP_047290799.1:p.Phe482fs, XP_047290800.1:p.Phe482fs, XP_047290801.1:p.Phe481fs, XP_047290802.1:p.Phe481fs, XP_047290804.1:p.Phe448fs, XP_047290797.1:p.Phe502fs

                              15.

                              rs1473860421 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                16:673502 (GRCh38)
                                16:723502 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:673501:C:A
                                Gene:
                                RHOT2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000016.10:g.673502C>A, NC_000016.9:g.723502C>A, NG_031824.1:g.10420C>A, NM_138769.3:c.1753C>A, NM_138769.2:c.1753C>A, NM_001352289.2:c.1090C>A, NM_001352289.1:c.1090C>A, NM_001352290.2:c.1090C>A, NM_001352290.1:c.1090C>A, NM_001352293.2:c.1090C>A, NM_001352293.1:c.1090C>A, NM_001352292.2:c.1090C>A, NM_001352292.1:c.1090C>A, NM_001352288.2:c.1090C>A, NM_001352288.1:c.1090C>A, NR_147953.2:n.1866C>A, NR_147953.1:n.1915C>A, NR_147954.2:n.1840C>A, NR_147954.1:n.1889C>A, NR_147955.2:n.1835C>A, NR_147955.1:n.1884C>A, NM_001352291.2:c.1090C>A, NM_001352291.1:c.1090C>A, NM_001352275.2:c.1756C>A, NM_001352275.1:c.1756C>A, NR_147956.2:n.1823C>A, NR_147956.1:n.1872C>A, NM_001352283.2:c.1372C>A, NM_001352283.1:c.1372C>A, NM_001352280.2:c.1435C>A, NM_001352280.1:c.1435C>A, NM_001352294.2:c.1090C>A, NM_001352294.1:c.1090C>A, NM_001352281.2:c.1432C>A, NM_001352281.1:c.1432C>A, NM_001352276.2:c.1702C>A, NM_001352276.1:c.1702C>A, NM_001352277.2:c.1699C>A, NM_001352277.1:c.1699C>A, NM_001352282.2:c.1432C>A, NM_001352282.1:c.1432C>A, NM_001352278.2:c.1654C>A, NM_001352278.1:c.1654C>A, NM_001352284.2:c.1336C>A, NM_001352284.1:c.1336C>A, NM_001352285.2:c.1333C>A, NM_001352285.1:c.1333C>A, NM_001352279.2:c.1600C>A, NM_001352279.1:c.1600C>A, NM_001352286.2:c.1276C>A, NM_001352286.1:c.1276C>A, NM_001352287.1:c.1090C>A, XM_047434840.1:c.1435C>A, XM_047434842.1:c.1375C>A, XM_047434843.1:c.1375C>A, XM_047434844.1:c.1375C>A, XM_047434845.1:c.1372C>A, XM_047434846.1:c.1372C>A, XM_047434848.1:c.1273C>A, XM_047434841.1:c.1435C>A, NP_620124.1:p.His585Asn, NP_001339218.1:p.His364Asn, NP_001339219.1:p.His364Asn, NP_001339222.1:p.His364Asn, NP_001339221.1:p.His364Asn, NP_001339217.1:p.His364Asn, NP_001339220.1:p.His364Asn, NP_001339204.1:p.His586Asn, NP_001339212.1:p.His458Asn, NP_001339209.1:p.His479Asn, NP_001339223.1:p.His364Asn, NP_001339210.1:p.His478Asn, NP_001339205.1:p.His568Asn, NP_001339206.1:p.His567Asn, NP_001339211.1:p.His478Asn, NP_001339207.1:p.His552Asn, NP_001339213.1:p.His446Asn, NP_001339214.1:p.His445Asn, NP_001339208.1:p.His534Asn, NP_001339215.1:p.His426Asn, NP_001339216.1:p.His364Asn, XP_047290796.1:p.His479Asn, XP_047290798.1:p.His459Asn, XP_047290799.1:p.His459Asn, XP_047290800.1:p.His459Asn, XP_047290801.1:p.His458Asn, XP_047290802.1:p.His458Asn, XP_047290804.1:p.His425Asn, XP_047290797.1:p.His479Asn

                                16.

                                rs1473749278 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  16:671879 (GRCh38)
                                  16:721879 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:671878:C:T
                                  Gene:
                                  RHOT2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  T=0.000008/2 (TOPMED)
                                  T=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000016.10:g.671879C>T, NC_000016.9:g.721879C>T, NG_031824.1:g.8797C>T, NM_138769.3:c.974C>T, NM_138769.2:c.974C>T, NM_001352289.2:c.311C>T, NM_001352289.1:c.311C>T, NM_001352290.2:c.311C>T, NM_001352290.1:c.311C>T, NM_001352293.2:c.311C>T, NM_001352293.1:c.311C>T, NM_001352292.2:c.311C>T, NM_001352292.1:c.311C>T, NM_001352288.2:c.311C>T, NM_001352288.1:c.311C>T, NR_147953.2:n.1070C>T, NR_147953.1:n.1119C>T, NR_147954.2:n.1061C>T, NR_147954.1:n.1110C>T, NR_147955.2:n.1056C>T, NR_147955.1:n.1105C>T, NM_001352291.2:c.311C>T, NM_001352291.1:c.311C>T, NM_001352275.2:c.977C>T, NM_001352275.1:c.977C>T, NR_147956.2:n.1044C>T, NR_147956.1:n.1093C>T, NM_001352283.2:c.593C>T, NM_001352283.1:c.593C>T, NM_001352280.2:c.656C>T, NM_001352280.1:c.656C>T, NM_001352294.2:c.311C>T, NM_001352294.1:c.311C>T, NM_001352281.2:c.653C>T, NM_001352281.1:c.653C>T, NM_001352276.2:c.923C>T, NM_001352276.1:c.923C>T, NM_001352277.2:c.920C>T, NM_001352277.1:c.920C>T, NM_001352282.2:c.653C>T, NM_001352282.1:c.653C>T, NM_001352278.2:c.875C>T, NM_001352278.1:c.875C>T, NM_001352284.2:c.557C>T, NM_001352284.1:c.557C>T, NM_001352285.2:c.554C>T, NM_001352285.1:c.554C>T, NM_001352279.2:c.821C>T, NM_001352279.1:c.821C>T, NM_001352286.2:c.497C>T, NM_001352286.1:c.497C>T, NM_001352287.1:c.311C>T, XM_047434840.1:c.656C>T, XM_047434842.1:c.596C>T, XM_047434843.1:c.596C>T, XM_047434844.1:c.596C>T, XM_047434845.1:c.593C>T, XM_047434846.1:c.593C>T, XM_047434848.1:c.494C>T, XM_047434841.1:c.656C>T, XM_047434847.1:c.977C>T, NP_620124.1:p.Ser325Leu, NP_001339218.1:p.Ser104Leu, NP_001339219.1:p.Ser104Leu, NP_001339222.1:p.Ser104Leu, NP_001339221.1:p.Ser104Leu, NP_001339217.1:p.Ser104Leu, NP_001339220.1:p.Ser104Leu, NP_001339204.1:p.Ser326Leu, NP_001339212.1:p.Ser198Leu, NP_001339209.1:p.Ser219Leu, NP_001339223.1:p.Ser104Leu, NP_001339210.1:p.Ser218Leu, NP_001339205.1:p.Ser308Leu, NP_001339206.1:p.Ser307Leu, NP_001339211.1:p.Ser218Leu, NP_001339207.1:p.Ser292Leu, NP_001339213.1:p.Ser186Leu, NP_001339214.1:p.Ser185Leu, NP_001339208.1:p.Ser274Leu, NP_001339215.1:p.Ser166Leu, NP_001339216.1:p.Ser104Leu, XP_047290796.1:p.Ser219Leu, XP_047290798.1:p.Ser199Leu, XP_047290799.1:p.Ser199Leu, XP_047290800.1:p.Ser199Leu, XP_047290801.1:p.Ser198Leu, XP_047290802.1:p.Ser198Leu, XP_047290804.1:p.Ser165Leu, XP_047290797.1:p.Ser219Leu, XP_047290803.1:p.Ser326Leu

                                  17.

                                  rs1472178740 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    16:672165 (GRCh38)
                                    16:722165 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:672164:G:A,NC_000016.10:672164:G:C
                                    Gene:
                                    RHOT2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    C=0.00004/1 (TOMMO)
                                    HGVS:
                                    NC_000016.10:g.672165G>A, NC_000016.10:g.672165G>C, NC_000016.9:g.722165G>A, NC_000016.9:g.722165G>C, NG_031824.1:g.9083G>A, NG_031824.1:g.9083G>C, NM_138769.3:c.1179G>A, NM_138769.3:c.1179G>C, NM_138769.2:c.1179G>A, NM_138769.2:c.1179G>C, NM_001352289.2:c.516G>A, NM_001352289.2:c.516G>C, NM_001352289.1:c.516G>A, NM_001352289.1:c.516G>C, NM_001352290.2:c.516G>A, NM_001352290.2:c.516G>C, NM_001352290.1:c.516G>A, NM_001352290.1:c.516G>C, NM_001352293.2:c.516G>A, NM_001352293.2:c.516G>C, NM_001352293.1:c.516G>A, NM_001352293.1:c.516G>C, NM_001352292.2:c.516G>A, NM_001352292.2:c.516G>C, NM_001352292.1:c.516G>A, NM_001352292.1:c.516G>C, NM_001352288.2:c.516G>A, NM_001352288.2:c.516G>C, NM_001352288.1:c.516G>A, NM_001352288.1:c.516G>C, NR_147953.2:n.1275G>A, NR_147953.2:n.1275G>C, NR_147953.1:n.1324G>A, NR_147953.1:n.1324G>C, NR_147954.2:n.1266G>A, NR_147954.2:n.1266G>C, NR_147954.1:n.1315G>A, NR_147954.1:n.1315G>C, NR_147955.2:n.1261G>A, NR_147955.2:n.1261G>C, NR_147955.1:n.1310G>A, NR_147955.1:n.1310G>C, NM_001352291.2:c.516G>A, NM_001352291.2:c.516G>C, NM_001352291.1:c.516G>A, NM_001352291.1:c.516G>C, NM_001352275.2:c.1182G>A, NM_001352275.2:c.1182G>C, NM_001352275.1:c.1182G>A, NM_001352275.1:c.1182G>C, NR_147956.2:n.1249G>A, NR_147956.2:n.1249G>C, NR_147956.1:n.1298G>A, NR_147956.1:n.1298G>C, NM_001352283.2:c.798G>A, NM_001352283.2:c.798G>C, NM_001352283.1:c.798G>A, NM_001352283.1:c.798G>C, NM_001352280.2:c.861G>A, NM_001352280.2:c.861G>C, NM_001352280.1:c.861G>A, NM_001352280.1:c.861G>C, NM_001352294.2:c.516G>A, NM_001352294.2:c.516G>C, NM_001352294.1:c.516G>A, NM_001352294.1:c.516G>C, NM_001352281.2:c.858G>A, NM_001352281.2:c.858G>C, NM_001352281.1:c.858G>A, NM_001352281.1:c.858G>C, NM_001352276.2:c.1128G>A, NM_001352276.2:c.1128G>C, NM_001352276.1:c.1128G>A, NM_001352276.1:c.1128G>C, NM_001352277.2:c.1125G>A, NM_001352277.2:c.1125G>C, NM_001352277.1:c.1125G>A, NM_001352277.1:c.1125G>C, NM_001352282.2:c.858G>A, NM_001352282.2:c.858G>C, NM_001352282.1:c.858G>A, NM_001352282.1:c.858G>C, NM_001352278.2:c.1080G>A, NM_001352278.2:c.1080G>C, NM_001352278.1:c.1080G>A, NM_001352278.1:c.1080G>C, NM_001352284.2:c.762G>A, NM_001352284.2:c.762G>C, NM_001352284.1:c.762G>A, NM_001352284.1:c.762G>C, NM_001352285.2:c.759G>A, NM_001352285.2:c.759G>C, NM_001352285.1:c.759G>A, NM_001352285.1:c.759G>C, NM_001352279.2:c.1026G>A, NM_001352279.2:c.1026G>C, NM_001352279.1:c.1026G>A, NM_001352279.1:c.1026G>C, NM_001352286.2:c.702G>A, NM_001352286.2:c.702G>C, NM_001352286.1:c.702G>A, NM_001352286.1:c.702G>C, NM_001352287.1:c.516G>A, NM_001352287.1:c.516G>C, XM_047434840.1:c.861G>A, XM_047434840.1:c.861G>C, XM_047434842.1:c.801G>A, XM_047434842.1:c.801G>C, XM_047434843.1:c.801G>A, XM_047434843.1:c.801G>C, XM_047434844.1:c.801G>A, XM_047434844.1:c.801G>C, XM_047434845.1:c.798G>A, XM_047434845.1:c.798G>C, XM_047434846.1:c.798G>A, XM_047434846.1:c.798G>C, XM_047434848.1:c.699G>A, XM_047434848.1:c.699G>C, XM_047434841.1:c.861G>A, XM_047434841.1:c.861G>C, XM_047434847.1:c.1182G>A, XM_047434847.1:c.1182G>C, NP_620124.1:p.Gln393His, NP_001339218.1:p.Gln172His, NP_001339219.1:p.Gln172His, NP_001339222.1:p.Gln172His, NP_001339221.1:p.Gln172His, NP_001339217.1:p.Gln172His, NP_001339220.1:p.Gln172His, NP_001339204.1:p.Gln394His, NP_001339212.1:p.Gln266His, NP_001339209.1:p.Gln287His, NP_001339223.1:p.Gln172His, NP_001339210.1:p.Gln286His, NP_001339205.1:p.Gln376His, NP_001339206.1:p.Gln375His, NP_001339211.1:p.Gln286His, NP_001339207.1:p.Gln360His, NP_001339213.1:p.Gln254His, NP_001339214.1:p.Gln253His, NP_001339208.1:p.Gln342His, NP_001339215.1:p.Gln234His, NP_001339216.1:p.Gln172His, XP_047290796.1:p.Gln287His, XP_047290798.1:p.Gln267His, XP_047290799.1:p.Gln267His, XP_047290800.1:p.Gln267His, XP_047290801.1:p.Gln266His, XP_047290802.1:p.Gln266His, XP_047290804.1:p.Gln233His, XP_047290797.1:p.Gln287His, XP_047290803.1:p.Gln394His

                                    18.

                                    rs1470847434 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      16:672798 (GRCh38)
                                      16:722798 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:672797:C:T
                                      Gene:
                                      RHOT2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000016.10:g.672798C>T, NC_000016.9:g.722798C>T, NG_031824.1:g.9716C>T, NM_138769.3:c.1500C>T, NM_138769.2:c.1500C>T, NM_001352289.2:c.837C>T, NM_001352289.1:c.837C>T, NM_001352290.2:c.837C>T, NM_001352290.1:c.837C>T, NM_001352293.2:c.837C>T, NM_001352293.1:c.837C>T, NM_001352292.2:c.837C>T, NM_001352292.1:c.837C>T, NM_001352288.2:c.837C>T, NM_001352288.1:c.837C>T, NR_147953.2:n.1613C>T, NR_147953.1:n.1662C>T, NR_147954.2:n.1587C>T, NR_147954.1:n.1636C>T, NR_147955.2:n.1582C>T, NR_147955.1:n.1631C>T, NM_001352291.2:c.837C>T, NM_001352291.1:c.837C>T, NM_001352275.2:c.1503C>T, NM_001352275.1:c.1503C>T, NR_147956.2:n.1570C>T, NR_147956.1:n.1619C>T, NM_001352283.2:c.1119C>T, NM_001352283.1:c.1119C>T, NM_001352280.2:c.1182C>T, NM_001352280.1:c.1182C>T, NM_001352294.2:c.837C>T, NM_001352294.1:c.837C>T, NM_001352281.2:c.1179C>T, NM_001352281.1:c.1179C>T, NM_001352276.2:c.1449C>T, NM_001352276.1:c.1449C>T, NM_001352277.2:c.1446C>T, NM_001352277.1:c.1446C>T, NM_001352282.2:c.1179C>T, NM_001352282.1:c.1179C>T, NM_001352278.2:c.1401C>T, NM_001352278.1:c.1401C>T, NM_001352284.2:c.1083C>T, NM_001352284.1:c.1083C>T, NM_001352285.2:c.1080C>T, NM_001352285.1:c.1080C>T, NM_001352279.2:c.1347C>T, NM_001352279.1:c.1347C>T, NM_001352286.2:c.1023C>T, NM_001352286.1:c.1023C>T, NM_001352287.1:c.837C>T, XM_047434840.1:c.1182C>T, XM_047434842.1:c.1122C>T, XM_047434843.1:c.1122C>T, XM_047434844.1:c.1122C>T, XM_047434845.1:c.1119C>T, XM_047434846.1:c.1119C>T, XM_047434848.1:c.1020C>T, XM_047434841.1:c.1182C>T, XM_047434847.1:c.*98C>T

                                      19.

                                      rs1470128265 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G [Show Flanks]
                                        Chromosome:
                                        16:672550 (GRCh38)
                                        16:722550 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:672549:A:C,NC_000016.10:672549:A:G
                                        Gene:
                                        RHOT2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000056/2 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000016.10:g.672550A>C, NC_000016.10:g.672550A>G, NC_000016.9:g.722550A>C, NC_000016.9:g.722550A>G, NG_031824.1:g.9468A>C, NG_031824.1:g.9468A>G, NM_138769.3:c.1388A>C, NM_138769.3:c.1388A>G, NM_138769.2:c.1388A>C, NM_138769.2:c.1388A>G, NM_001352289.2:c.725A>C, NM_001352289.2:c.725A>G, NM_001352289.1:c.725A>C, NM_001352289.1:c.725A>G, NM_001352290.2:c.725A>C, NM_001352290.2:c.725A>G, NM_001352290.1:c.725A>C, NM_001352290.1:c.725A>G, NM_001352293.2:c.725A>C, NM_001352293.2:c.725A>G, NM_001352293.1:c.725A>C, NM_001352293.1:c.725A>G, NM_001352292.2:c.725A>C, NM_001352292.2:c.725A>G, NM_001352292.1:c.725A>C, NM_001352292.1:c.725A>G, NM_001352288.2:c.725A>C, NM_001352288.2:c.725A>G, NM_001352288.1:c.725A>C, NM_001352288.1:c.725A>G, NR_147953.2:n.1501A>C, NR_147953.2:n.1501A>G, NR_147953.1:n.1550A>C, NR_147953.1:n.1550A>G, NR_147954.2:n.1475A>C, NR_147954.2:n.1475A>G, NR_147954.1:n.1524A>C, NR_147954.1:n.1524A>G, NR_147955.2:n.1470A>C, NR_147955.2:n.1470A>G, NR_147955.1:n.1519A>C, NR_147955.1:n.1519A>G, NM_001352291.2:c.725A>C, NM_001352291.2:c.725A>G, NM_001352291.1:c.725A>C, NM_001352291.1:c.725A>G, NM_001352275.2:c.1391A>C, NM_001352275.2:c.1391A>G, NM_001352275.1:c.1391A>C, NM_001352275.1:c.1391A>G, NR_147956.2:n.1458A>C, NR_147956.2:n.1458A>G, NR_147956.1:n.1507A>C, NR_147956.1:n.1507A>G, NM_001352283.2:c.1007A>C, NM_001352283.2:c.1007A>G, NM_001352283.1:c.1007A>C, NM_001352283.1:c.1007A>G, NM_001352280.2:c.1070A>C, NM_001352280.2:c.1070A>G, NM_001352280.1:c.1070A>C, NM_001352280.1:c.1070A>G, NM_001352294.2:c.725A>C, NM_001352294.2:c.725A>G, NM_001352294.1:c.725A>C, NM_001352294.1:c.725A>G, NM_001352281.2:c.1067A>C, NM_001352281.2:c.1067A>G, NM_001352281.1:c.1067A>C, NM_001352281.1:c.1067A>G, NM_001352276.2:c.1337A>C, NM_001352276.2:c.1337A>G, NM_001352276.1:c.1337A>C, NM_001352276.1:c.1337A>G, NM_001352277.2:c.1334A>C, NM_001352277.2:c.1334A>G, NM_001352277.1:c.1334A>C, NM_001352277.1:c.1334A>G, NM_001352282.2:c.1067A>C, NM_001352282.2:c.1067A>G, NM_001352282.1:c.1067A>C, NM_001352282.1:c.1067A>G, NM_001352278.2:c.1289A>C, NM_001352278.2:c.1289A>G, NM_001352278.1:c.1289A>C, NM_001352278.1:c.1289A>G, NM_001352284.2:c.971A>C, NM_001352284.2:c.971A>G, NM_001352284.1:c.971A>C, NM_001352284.1:c.971A>G, NM_001352285.2:c.968A>C, NM_001352285.2:c.968A>G, NM_001352285.1:c.968A>C, NM_001352285.1:c.968A>G, NM_001352279.2:c.1235A>C, NM_001352279.2:c.1235A>G, NM_001352279.1:c.1235A>C, NM_001352279.1:c.1235A>G, NM_001352286.2:c.911A>C, NM_001352286.2:c.911A>G, NM_001352286.1:c.911A>C, NM_001352286.1:c.911A>G, NM_001352287.1:c.725A>C, NM_001352287.1:c.725A>G, XM_047434840.1:c.1070A>C, XM_047434840.1:c.1070A>G, XM_047434842.1:c.1010A>C, XM_047434842.1:c.1010A>G, XM_047434843.1:c.1010A>C, XM_047434843.1:c.1010A>G, XM_047434844.1:c.1010A>C, XM_047434844.1:c.1010A>G, XM_047434845.1:c.1007A>C, XM_047434845.1:c.1007A>G, XM_047434846.1:c.1007A>C, XM_047434846.1:c.1007A>G, XM_047434848.1:c.908A>C, XM_047434848.1:c.908A>G, XM_047434841.1:c.1070A>C, XM_047434841.1:c.1070A>G, XM_047434847.1:c.1408A>C, XM_047434847.1:c.1408A>G, NP_620124.1:p.Gln463Pro, NP_620124.1:p.Gln463Arg, NP_001339218.1:p.Gln242Pro, NP_001339218.1:p.Gln242Arg, NP_001339219.1:p.Gln242Pro, NP_001339219.1:p.Gln242Arg, NP_001339222.1:p.Gln242Pro, NP_001339222.1:p.Gln242Arg, NP_001339221.1:p.Gln242Pro, NP_001339221.1:p.Gln242Arg, NP_001339217.1:p.Gln242Pro, NP_001339217.1:p.Gln242Arg, NP_001339220.1:p.Gln242Pro, NP_001339220.1:p.Gln242Arg, NP_001339204.1:p.Gln464Pro, NP_001339204.1:p.Gln464Arg, NP_001339212.1:p.Gln336Pro, NP_001339212.1:p.Gln336Arg, NP_001339209.1:p.Gln357Pro, NP_001339209.1:p.Gln357Arg, NP_001339223.1:p.Gln242Pro, NP_001339223.1:p.Gln242Arg, NP_001339210.1:p.Gln356Pro, NP_001339210.1:p.Gln356Arg, NP_001339205.1:p.Gln446Pro, NP_001339205.1:p.Gln446Arg, NP_001339206.1:p.Gln445Pro, NP_001339206.1:p.Gln445Arg, NP_001339211.1:p.Gln356Pro, NP_001339211.1:p.Gln356Arg, NP_001339207.1:p.Gln430Pro, NP_001339207.1:p.Gln430Arg, NP_001339213.1:p.Gln324Pro, NP_001339213.1:p.Gln324Arg, NP_001339214.1:p.Gln323Pro, NP_001339214.1:p.Gln323Arg, NP_001339208.1:p.Gln412Pro, NP_001339208.1:p.Gln412Arg, NP_001339215.1:p.Gln304Pro, NP_001339215.1:p.Gln304Arg, NP_001339216.1:p.Gln242Pro, NP_001339216.1:p.Gln242Arg, XP_047290796.1:p.Gln357Pro, XP_047290796.1:p.Gln357Arg, XP_047290798.1:p.Gln337Pro, XP_047290798.1:p.Gln337Arg, XP_047290799.1:p.Gln337Pro, XP_047290799.1:p.Gln337Arg, XP_047290800.1:p.Gln337Pro, XP_047290800.1:p.Gln337Arg, XP_047290801.1:p.Gln336Pro, XP_047290801.1:p.Gln336Arg, XP_047290802.1:p.Gln336Pro, XP_047290802.1:p.Gln336Arg, XP_047290804.1:p.Gln303Pro, XP_047290804.1:p.Gln303Arg, XP_047290797.1:p.Gln357Pro, XP_047290797.1:p.Gln357Arg, XP_047290803.1:p.Arg470Gly

                                        20.

                                        rs1470011000 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          16:672150 (GRCh38)
                                          16:722150 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:672149:C:T
                                          Gene:
                                          RHOT2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant,non_coding_transcript_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_000016.10:g.672150C>T, NC_000016.9:g.722150C>T, NG_031824.1:g.9068C>T, NM_138769.3:c.1164C>T, NM_138769.2:c.1164C>T, NM_001352289.2:c.501C>T, NM_001352289.1:c.501C>T, NM_001352290.2:c.501C>T, NM_001352290.1:c.501C>T, NM_001352293.2:c.501C>T, NM_001352293.1:c.501C>T, NM_001352292.2:c.501C>T, NM_001352292.1:c.501C>T, NM_001352288.2:c.501C>T, NM_001352288.1:c.501C>T, NR_147953.2:n.1260C>T, NR_147953.1:n.1309C>T, NR_147954.2:n.1251C>T, NR_147954.1:n.1300C>T, NR_147955.2:n.1246C>T, NR_147955.1:n.1295C>T, NM_001352291.2:c.501C>T, NM_001352291.1:c.501C>T, NM_001352275.2:c.1167C>T, NM_001352275.1:c.1167C>T, NR_147956.2:n.1234C>T, NR_147956.1:n.1283C>T, NM_001352283.2:c.783C>T, NM_001352283.1:c.783C>T, NM_001352280.2:c.846C>T, NM_001352280.1:c.846C>T, NM_001352294.2:c.501C>T, NM_001352294.1:c.501C>T, NM_001352281.2:c.843C>T, NM_001352281.1:c.843C>T, NM_001352276.2:c.1113C>T, NM_001352276.1:c.1113C>T, NM_001352277.2:c.1110C>T, NM_001352277.1:c.1110C>T, NM_001352282.2:c.843C>T, NM_001352282.1:c.843C>T, NM_001352278.2:c.1065C>T, NM_001352278.1:c.1065C>T, NM_001352284.2:c.747C>T, NM_001352284.1:c.747C>T, NM_001352285.2:c.744C>T, NM_001352285.1:c.744C>T, NM_001352279.2:c.1011C>T, NM_001352279.1:c.1011C>T, NM_001352286.2:c.687C>T, NM_001352286.1:c.687C>T, NM_001352287.1:c.501C>T, XM_047434840.1:c.846C>T, XM_047434842.1:c.786C>T, XM_047434843.1:c.786C>T, XM_047434844.1:c.786C>T, XM_047434845.1:c.783C>T, XM_047434846.1:c.783C>T, XM_047434848.1:c.684C>T, XM_047434841.1:c.846C>T, XM_047434847.1:c.1167C>T

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