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Items: 1 to 20 of 426

1.

rs1489086446 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    17:32206930 (GRCh38)
    17:30533949 (GRCh37)
    Canonical SPDI:
    NC_000017.11:32206929:G:A
    Gene:
    RHOT1 (Varview)
    Functional Consequence:
    synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000056/2 (ALFA)
    A=0.000007/1 (GnomAD)
    A=0.000023/6 (TOPMED)
    HGVS:
    NC_000017.11:g.32206930G>A, NC_000017.10:g.30533949G>A, NM_018307.5:c.1437G>A, NM_018307.4:c.1437G>A, NM_018307.3:c.1437G>A, XM_011524973.3:c.1437G>A, XM_011524973.2:c.1437G>A, XM_011524973.1:c.1374G>A, NM_001033568.3:c.1437G>A, NM_001033568.2:c.1437G>A, NM_001033568.1:c.1437G>A, NM_001033567.3:c.1056G>A, NM_001033567.2:c.1056G>A, NM_001033567.1:c.*1405G>A, NM_001033566.3:c.1437G>A, NM_001033566.2:c.1437G>A, NM_001033566.1:c.1437G>A, XM_011524969.3:c.1374G>A, XM_011524969.2:c.1374G>A, XM_011524969.1:c.1374G>A, NR_110083.2:n.1628G>A, NR_110083.1:n.1676G>A, NM_001288758.2:c.1056G>A, NM_001288758.1:c.1056G>A, NM_001288754.2:c.1437G>A, NM_001288754.1:c.1437G>A, NM_001288755.2:c.1374G>A, NM_001288755.1:c.1374G>A, XM_047436362.1:c.1437G>A, XM_047436353.1:c.1530G>A, XM_047436355.1:c.1530G>A, XM_047436359.1:c.1530G>A, XM_047436363.1:c.1056G>A, XM_047436357.1:c.1374G>A, XM_047436364.1:c.1056G>A, XM_047436358.1:c.1434G>A, XM_047436360.1:c.1434G>A, XM_047436361.1:c.1437G>A, XM_047436354.1:c.1374G>A, XM_047436356.1:c.1374G>A

    2.

    rs1489018362 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      17:32198969 (GRCh38)
      17:30525988 (GRCh37)
      Canonical SPDI:
      NC_000017.11:32198968:A:G
      Gene:
      RHOT1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      HGVS:
      NC_000017.11:g.32198969A>G, NC_000017.10:g.30525988A>G, NM_018307.5:c.892A>G, NM_018307.4:c.892A>G, NM_018307.3:c.892A>G, XM_011524973.3:c.892A>G, XM_011524973.2:c.892A>G, XM_011524973.1:c.829A>G, NM_001033568.3:c.892A>G, NM_001033568.2:c.892A>G, NM_001033568.1:c.892A>G, NM_001033567.3:c.511A>G, NM_001033567.2:c.511A>G, NM_001033567.1:c.*860A>G, NM_001033566.3:c.892A>G, NM_001033566.2:c.892A>G, NM_001033566.1:c.892A>G, XM_011524969.3:c.829A>G, XM_011524969.2:c.829A>G, XM_011524969.1:c.829A>G, NR_110083.2:n.1083A>G, NR_110083.1:n.1131A>G, NM_001288758.2:c.511A>G, NM_001288758.1:c.511A>G, NM_001288754.2:c.892A>G, NM_001288754.1:c.892A>G, NM_001288755.2:c.829A>G, NM_001288755.1:c.829A>G, XM_047436362.1:c.892A>G, XM_047436353.1:c.985A>G, XM_047436355.1:c.985A>G, XM_047436359.1:c.985A>G, XM_047436363.1:c.511A>G, XM_047436357.1:c.829A>G, XM_047436364.1:c.511A>G, XM_047436358.1:c.889A>G, XM_047436360.1:c.889A>G, XM_047436361.1:c.892A>G, XM_047436354.1:c.829A>G, XM_047436356.1:c.829A>G, NP_060777.3:p.Thr298Ala, XP_011523275.2:p.Thr298Ala, NP_001028740.1:p.Thr298Ala, NP_001028739.2:p.Thr171Ala, NP_001028738.1:p.Thr298Ala, XP_011523271.1:p.Thr277Ala, NP_001275687.1:p.Thr171Ala, NP_001275683.1:p.Thr298Ala, NP_001275684.1:p.Thr277Ala, XP_047292318.1:p.Thr298Ala, XP_047292309.1:p.Thr329Ala, XP_047292311.1:p.Thr329Ala, XP_047292315.1:p.Thr329Ala, XP_047292319.1:p.Thr171Ala, XP_047292313.1:p.Thr277Ala, XP_047292320.1:p.Thr171Ala, XP_047292314.1:p.Thr297Ala, XP_047292316.1:p.Thr297Ala, XP_047292317.1:p.Thr298Ala, XP_047292310.1:p.Thr277Ala, XP_047292312.1:p.Thr277Ala

      3.

      rs1488582579 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        17:32199009 (GRCh38)
        17:30526028 (GRCh37)
        Canonical SPDI:
        NC_000017.11:32199008:G:A
        Gene:
        RHOT1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000008/2 (TOPMED)
        A=0.000014/2 (GnomAD)
        HGVS:
        NC_000017.11:g.32199009G>A, NC_000017.10:g.30526028G>A, NM_018307.5:c.932G>A, NM_018307.4:c.932G>A, NM_018307.3:c.932G>A, XM_011524973.3:c.932G>A, XM_011524973.2:c.932G>A, XM_011524973.1:c.869G>A, NM_001033568.3:c.932G>A, NM_001033568.2:c.932G>A, NM_001033568.1:c.932G>A, NM_001033567.3:c.551G>A, NM_001033567.2:c.551G>A, NM_001033567.1:c.*900G>A, NM_001033566.3:c.932G>A, NM_001033566.2:c.932G>A, NM_001033566.1:c.932G>A, XM_011524969.3:c.869G>A, XM_011524969.2:c.869G>A, XM_011524969.1:c.869G>A, NR_110083.2:n.1123G>A, NR_110083.1:n.1171G>A, NM_001288758.2:c.551G>A, NM_001288758.1:c.551G>A, NM_001288754.2:c.932G>A, NM_001288754.1:c.932G>A, NM_001288755.2:c.869G>A, NM_001288755.1:c.869G>A, XM_047436362.1:c.932G>A, XM_047436353.1:c.1025G>A, XM_047436355.1:c.1025G>A, XM_047436359.1:c.1025G>A, XM_047436363.1:c.551G>A, XM_047436357.1:c.869G>A, XM_047436364.1:c.551G>A, XM_047436358.1:c.929G>A, XM_047436360.1:c.929G>A, XM_047436361.1:c.932G>A, XM_047436354.1:c.869G>A, XM_047436356.1:c.869G>A, NP_060777.3:p.Ser311Asn, XP_011523275.2:p.Ser311Asn, NP_001028740.1:p.Ser311Asn, NP_001028739.2:p.Ser184Asn, NP_001028738.1:p.Ser311Asn, XP_011523271.1:p.Ser290Asn, NP_001275687.1:p.Ser184Asn, NP_001275683.1:p.Ser311Asn, NP_001275684.1:p.Ser290Asn, XP_047292318.1:p.Ser311Asn, XP_047292309.1:p.Ser342Asn, XP_047292311.1:p.Ser342Asn, XP_047292315.1:p.Ser342Asn, XP_047292319.1:p.Ser184Asn, XP_047292313.1:p.Ser290Asn, XP_047292320.1:p.Ser184Asn, XP_047292314.1:p.Ser310Asn, XP_047292316.1:p.Ser310Asn, XP_047292317.1:p.Ser311Asn, XP_047292310.1:p.Ser290Asn, XP_047292312.1:p.Ser290Asn

        4.

        rs1487928472 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          17:32142709 (GRCh38)
          17:30469728 (GRCh37)
          Canonical SPDI:
          NC_000017.11:32142708:G:T
          Gene:
          RHOT1 (Varview), LOC105371730 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
          HGVS:
          NC_000017.11:g.32142709G>T, NC_000017.10:g.30469728G>T, NM_018307.5:c.17G>T, NM_018307.4:c.17G>T, NM_018307.3:c.17G>T, XM_011524973.3:c.17G>T, XM_011524973.2:c.17G>T, NM_001033568.3:c.17G>T, NM_001033568.2:c.17G>T, NM_001033568.1:c.17G>T, NM_001033567.3:c.-489G>T, NM_001033567.2:c.-489G>T, NM_001033567.1:c.17G>T, NM_001033566.3:c.17G>T, NM_001033566.2:c.17G>T, NM_001033566.1:c.17G>T, NR_110083.2:n.208G>T, NR_110083.1:n.256G>T, NM_001288758.2:c.-489G>T, NM_001288758.1:c.-489G>T, NM_001288754.2:c.17G>T, NM_001288754.1:c.17G>T, NM_001288755.2:c.-43G>T, NM_001288755.1:c.-43G>T, XM_047436362.1:c.17G>T, XM_047436364.1:c.-306G>T, XM_047436361.1:c.17G>T, NR_136413.1:n.116C>A, NP_060777.3:p.Arg6Leu, XP_011523275.2:p.Arg6Leu, NP_001028740.1:p.Arg6Leu, NP_001028738.1:p.Arg6Leu, NP_001275683.1:p.Arg6Leu, XP_047292318.1:p.Arg6Leu, XP_047292317.1:p.Arg6Leu

          5.

          rs1487778196 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            17:32202788 (GRCh38)
            17:30529807 (GRCh37)
            Canonical SPDI:
            NC_000017.11:32202787:T:C
            Gene:
            RHOT1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000017.11:g.32202788T>C, NC_000017.10:g.30529807T>C, NM_018307.5:c.1220T>C, NM_018307.4:c.1220T>C, NM_018307.3:c.1220T>C, XM_011524973.3:c.1220T>C, XM_011524973.2:c.1220T>C, XM_011524973.1:c.1157T>C, NM_001033568.3:c.1220T>C, NM_001033568.2:c.1220T>C, NM_001033568.1:c.1220T>C, NM_001033567.3:c.839T>C, NM_001033567.2:c.839T>C, NM_001033567.1:c.*1188T>C, NM_001033566.3:c.1220T>C, NM_001033566.2:c.1220T>C, NM_001033566.1:c.1220T>C, XM_011524969.3:c.1157T>C, XM_011524969.2:c.1157T>C, XM_011524969.1:c.1157T>C, NR_110083.2:n.1411T>C, NR_110083.1:n.1459T>C, NM_001288758.2:c.839T>C, NM_001288758.1:c.839T>C, NM_001288754.2:c.1220T>C, NM_001288754.1:c.1220T>C, NM_001288755.2:c.1157T>C, NM_001288755.1:c.1157T>C, XM_047436362.1:c.1220T>C, XM_047436353.1:c.1313T>C, XM_047436355.1:c.1313T>C, XM_047436359.1:c.1313T>C, XM_047436363.1:c.839T>C, XM_047436357.1:c.1157T>C, XM_047436364.1:c.839T>C, XM_047436358.1:c.1217T>C, XM_047436360.1:c.1217T>C, XM_047436361.1:c.1220T>C, XM_047436354.1:c.1157T>C, XM_047436356.1:c.1157T>C, NP_060777.3:p.Ile407Thr, XP_011523275.2:p.Ile407Thr, NP_001028740.1:p.Ile407Thr, NP_001028739.2:p.Ile280Thr, NP_001028738.1:p.Ile407Thr, XP_011523271.1:p.Ile386Thr, NP_001275687.1:p.Ile280Thr, NP_001275683.1:p.Ile407Thr, NP_001275684.1:p.Ile386Thr, XP_047292318.1:p.Ile407Thr, XP_047292309.1:p.Ile438Thr, XP_047292311.1:p.Ile438Thr, XP_047292315.1:p.Ile438Thr, XP_047292319.1:p.Ile280Thr, XP_047292313.1:p.Ile386Thr, XP_047292320.1:p.Ile280Thr, XP_047292314.1:p.Ile406Thr, XP_047292316.1:p.Ile406Thr, XP_047292317.1:p.Ile407Thr, XP_047292310.1:p.Ile386Thr, XP_047292312.1:p.Ile386Thr

            6.

            rs1487128006 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              17:32208127 (GRCh38)
              17:30535146 (GRCh37)
              Canonical SPDI:
              NC_000017.11:32208126:A:G
              Gene:
              RHOT1 (Varview)
              Functional Consequence:
              synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:
              NC_000017.11:g.32208127A>G, NC_000017.10:g.30535146A>G, NM_018307.5:c.1557A>G, NM_018307.4:c.1557A>G, NM_018307.3:c.1557A>G, XM_011524973.3:c.1557A>G, XM_011524973.2:c.1557A>G, XM_011524973.1:c.1494A>G, NM_001033568.3:c.1557A>G, NM_001033568.2:c.1557A>G, NM_001033568.1:c.1557A>G, NM_001033567.3:c.1176A>G, NM_001033567.2:c.1176A>G, NM_001033567.1:c.*1525A>G, NM_001033566.3:c.1557A>G, NM_001033566.2:c.1557A>G, NM_001033566.1:c.1557A>G, XM_011524969.3:c.1494A>G, XM_011524969.2:c.1494A>G, XM_011524969.1:c.1494A>G, NR_110083.2:n.1748A>G, NR_110083.1:n.1796A>G, NM_001288758.2:c.1176A>G, NM_001288758.1:c.1176A>G, NM_001288754.2:c.1557A>G, NM_001288754.1:c.1557A>G, NM_001288755.2:c.1494A>G, NM_001288755.1:c.1494A>G, XM_047436362.1:c.1557A>G, XM_047436353.1:c.1650A>G, XM_047436355.1:c.1650A>G, XM_047436359.1:c.1650A>G, XM_047436363.1:c.1176A>G, XM_047436357.1:c.1494A>G, XM_047436364.1:c.1176A>G, XM_047436358.1:c.1554A>G, XM_047436360.1:c.1554A>G, XM_047436361.1:c.1557A>G, XM_047436354.1:c.1494A>G, XM_047436356.1:c.1494A>G

              7.

              rs1485783313 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                17:32183195 (GRCh38)
                17:30510214 (GRCh37)
                Canonical SPDI:
                NC_000017.11:32183194:A:G
                Gene:
                RHOT1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000008/2 (TOPMED)
                G=0.000014/2 (GnomAD)
                HGVS:
                NC_000017.11:g.32183195A>G, NC_000017.10:g.30510214A>G, NM_018307.5:c.463A>G, NM_018307.4:c.463A>G, NM_018307.3:c.463A>G, XM_011524973.3:c.463A>G, XM_011524973.2:c.463A>G, XM_011524973.1:c.400A>G, NM_001033568.3:c.463A>G, NM_001033568.2:c.463A>G, NM_001033568.1:c.463A>G, NM_001033567.3:c.82A>G, NM_001033567.2:c.82A>G, NM_001033567.1:c.*431A>G, NM_001033566.3:c.463A>G, NM_001033566.2:c.463A>G, NM_001033566.1:c.463A>G, XM_011524969.3:c.400A>G, XM_011524969.2:c.400A>G, XM_011524969.1:c.400A>G, NR_110083.2:n.654A>G, NR_110083.1:n.702A>G, NM_001288758.2:c.82A>G, NM_001288758.1:c.82A>G, NM_001288754.2:c.463A>G, NM_001288754.1:c.463A>G, NM_001288755.2:c.400A>G, NM_001288755.1:c.400A>G, XM_047436362.1:c.463A>G, XM_047436353.1:c.556A>G, XM_047436355.1:c.556A>G, XM_047436359.1:c.556A>G, XM_047436363.1:c.82A>G, XM_047436357.1:c.400A>G, XM_047436364.1:c.82A>G, XM_047436358.1:c.460A>G, XM_047436360.1:c.460A>G, XM_047436361.1:c.463A>G, XM_047436354.1:c.400A>G, XM_047436356.1:c.400A>G, NP_060777.3:p.Ile155Val, XP_011523275.2:p.Ile155Val, NP_001028740.1:p.Ile155Val, NP_001028739.2:p.Ile28Val, NP_001028738.1:p.Ile155Val, XP_011523271.1:p.Ile134Val, NP_001275687.1:p.Ile28Val, NP_001275683.1:p.Ile155Val, NP_001275684.1:p.Ile134Val, XP_047292318.1:p.Ile155Val, XP_047292309.1:p.Ile186Val, XP_047292311.1:p.Ile186Val, XP_047292315.1:p.Ile186Val, XP_047292319.1:p.Ile28Val, XP_047292313.1:p.Ile134Val, XP_047292320.1:p.Ile28Val, XP_047292314.1:p.Ile154Val, XP_047292316.1:p.Ile154Val, XP_047292317.1:p.Ile155Val, XP_047292310.1:p.Ile134Val, XP_047292312.1:p.Ile134Val

                8.

                rs1485054489 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  17:32200993 (GRCh38)
                  17:30528012 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:32200992:T:C
                  Gene:
                  RHOT1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000017.11:g.32200993T>C, NC_000017.10:g.30528012T>C, NM_018307.5:c.1138T>C, NM_018307.4:c.1138T>C, NM_018307.3:c.1138T>C, XM_011524973.3:c.1138T>C, XM_011524973.2:c.1138T>C, XM_011524973.1:c.1075T>C, NM_001033568.3:c.1138T>C, NM_001033568.2:c.1138T>C, NM_001033568.1:c.1138T>C, NM_001033567.3:c.757T>C, NM_001033567.2:c.757T>C, NM_001033567.1:c.*1106T>C, NM_001033566.3:c.1138T>C, NM_001033566.2:c.1138T>C, NM_001033566.1:c.1138T>C, XM_011524969.3:c.1075T>C, XM_011524969.2:c.1075T>C, XM_011524969.1:c.1075T>C, NR_110083.2:n.1329T>C, NR_110083.1:n.1377T>C, NM_001288758.2:c.757T>C, NM_001288758.1:c.757T>C, NM_001288754.2:c.1138T>C, NM_001288754.1:c.1138T>C, NM_001288755.2:c.1075T>C, NM_001288755.1:c.1075T>C, XM_047436362.1:c.1138T>C, XM_047436353.1:c.1231T>C, XM_047436355.1:c.1231T>C, XM_047436359.1:c.1231T>C, XM_047436363.1:c.757T>C, XM_047436357.1:c.1075T>C, XM_047436364.1:c.757T>C, XM_047436358.1:c.1135T>C, XM_047436360.1:c.1135T>C, XM_047436361.1:c.1138T>C, XM_047436354.1:c.1075T>C, XM_047436356.1:c.1075T>C, NP_060777.3:p.Tyr380His, XP_011523275.2:p.Tyr380His, NP_001028740.1:p.Tyr380His, NP_001028739.2:p.Tyr253His, NP_001028738.1:p.Tyr380His, XP_011523271.1:p.Tyr359His, NP_001275687.1:p.Tyr253His, NP_001275683.1:p.Tyr380His, NP_001275684.1:p.Tyr359His, XP_047292318.1:p.Tyr380His, XP_047292309.1:p.Tyr411His, XP_047292311.1:p.Tyr411His, XP_047292315.1:p.Tyr411His, XP_047292319.1:p.Tyr253His, XP_047292313.1:p.Tyr359His, XP_047292320.1:p.Tyr253His, XP_047292314.1:p.Tyr379His, XP_047292316.1:p.Tyr379His, XP_047292317.1:p.Tyr380His, XP_047292310.1:p.Tyr359His, XP_047292312.1:p.Tyr359His

                  9.

                  rs1482086929 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    17:32200962 (GRCh38)
                    17:30527981 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:32200961:G:A
                    Gene:
                    RHOT1 (Varview)
                    Functional Consequence:
                    synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000017.11:g.32200962G>A, NC_000017.10:g.30527981G>A, NM_018307.5:c.1107G>A, NM_018307.4:c.1107G>A, NM_018307.3:c.1107G>A, XM_011524973.3:c.1107G>A, XM_011524973.2:c.1107G>A, XM_011524973.1:c.1044G>A, NM_001033568.3:c.1107G>A, NM_001033568.2:c.1107G>A, NM_001033568.1:c.1107G>A, NM_001033567.3:c.726G>A, NM_001033567.2:c.726G>A, NM_001033567.1:c.*1075G>A, NM_001033566.3:c.1107G>A, NM_001033566.2:c.1107G>A, NM_001033566.1:c.1107G>A, XM_011524969.3:c.1044G>A, XM_011524969.2:c.1044G>A, XM_011524969.1:c.1044G>A, NR_110083.2:n.1298G>A, NR_110083.1:n.1346G>A, NM_001288758.2:c.726G>A, NM_001288758.1:c.726G>A, NM_001288754.2:c.1107G>A, NM_001288754.1:c.1107G>A, NM_001288755.2:c.1044G>A, NM_001288755.1:c.1044G>A, XM_047436362.1:c.1107G>A, XM_047436353.1:c.1200G>A, XM_047436355.1:c.1200G>A, XM_047436359.1:c.1200G>A, XM_047436363.1:c.726G>A, XM_047436357.1:c.1044G>A, XM_047436364.1:c.726G>A, XM_047436358.1:c.1104G>A, XM_047436360.1:c.1104G>A, XM_047436361.1:c.1107G>A, XM_047436354.1:c.1044G>A, XM_047436356.1:c.1044G>A

                    10.

                    rs1480731808 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      17:32176170 (GRCh38)
                      17:30503189 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:32176169:C:T
                      Gene:
                      RHOT1 (Varview)
                      Functional Consequence:
                      stop_gained,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000017.11:g.32176170C>T, NC_000017.10:g.30503189C>T, NM_018307.5:c.286C>T, NM_018307.4:c.286C>T, NM_018307.3:c.286C>T, XM_011524973.3:c.286C>T, XM_011524973.2:c.286C>T, XM_011524973.1:c.223C>T, NM_001033568.3:c.286C>T, NM_001033568.2:c.286C>T, NM_001033568.1:c.286C>T, NM_001033567.3:c.-96C>T, NM_001033567.2:c.-96C>T, NM_001033567.1:c.*254C>T, NM_001033566.3:c.286C>T, NM_001033566.2:c.286C>T, NM_001033566.1:c.286C>T, XM_011524969.3:c.223C>T, XM_011524969.2:c.223C>T, XM_011524969.1:c.223C>T, NR_110083.2:n.477C>T, NR_110083.1:n.525C>T, NM_001288758.2:c.-96C>T, NM_001288758.1:c.-96C>T, NM_001288754.2:c.286C>T, NM_001288754.1:c.286C>T, NM_001288755.2:c.223C>T, NM_001288755.1:c.223C>T, XM_047436362.1:c.286C>T, XM_047436353.1:c.379C>T, XM_047436355.1:c.379C>T, XM_047436359.1:c.379C>T, XM_047436363.1:c.-96C>T, XM_047436357.1:c.223C>T, XM_047436364.1:c.-96C>T, XM_047436358.1:c.283C>T, XM_047436360.1:c.283C>T, XM_047436361.1:c.286C>T, XM_047436354.1:c.223C>T, XM_047436356.1:c.223C>T, NP_060777.3:p.Arg96Ter, XP_011523275.2:p.Arg96Ter, NP_001028740.1:p.Arg96Ter, NP_001028738.1:p.Arg96Ter, XP_011523271.1:p.Arg75Ter, NP_001275683.1:p.Arg96Ter, NP_001275684.1:p.Arg75Ter, XP_047292318.1:p.Arg96Ter, XP_047292309.1:p.Arg127Ter, XP_047292311.1:p.Arg127Ter, XP_047292315.1:p.Arg127Ter, XP_047292313.1:p.Arg75Ter, XP_047292314.1:p.Arg95Ter, XP_047292316.1:p.Arg95Ter, XP_047292317.1:p.Arg96Ter, XP_047292310.1:p.Arg75Ter, XP_047292312.1:p.Arg75Ter

                      11.

                      rs1477622540 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        17:32171068 (GRCh38)
                        17:30498087 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:32171067:T:C
                        Gene:
                        RHOT1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,synonymous_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_000017.11:g.32171068T>C, NC_000017.10:g.30498087T>C, NM_018307.5:c.63T>C, NM_018307.4:c.63T>C, NM_018307.3:c.63T>C, XM_011524973.3:c.63T>C, XM_011524973.2:c.63T>C, XM_011524973.1:c.-1T>C, NM_001033568.3:c.63T>C, NM_001033568.2:c.63T>C, NM_001033568.1:c.63T>C, NM_001033567.3:c.-443T>C, NM_001033567.2:c.-443T>C, NM_001033567.1:c.63T>C, NM_001033566.3:c.63T>C, NM_001033566.2:c.63T>C, NM_001033566.1:c.63T>C, XM_011524969.3:c.-1T>C, XM_011524969.2:c.-1T>C, XM_011524969.1:c.-1T>C, NR_110083.2:n.254T>C, NR_110083.1:n.302T>C, NM_001288758.2:c.-443T>C, NM_001288758.1:c.-443T>C, NM_001288754.2:c.63T>C, NM_001288754.1:c.63T>C, NM_001288755.2:c.-1T>C, NM_001288755.1:c.-1T>C, XM_047436362.1:c.63T>C, XM_047436353.1:c.156T>C, XM_047436355.1:c.156T>C, XM_047436359.1:c.156T>C, XM_047436363.1:c.-443T>C, XM_047436357.1:c.-1T>C, XM_047436358.1:c.60T>C, XM_047436360.1:c.60T>C, XM_047436361.1:c.63T>C, XM_047436354.1:c.-1T>C, XM_047436356.1:c.-1T>C

                        12.

                        rs1477530346 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          17:32203951 (GRCh38)
                          17:30530970 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:32203950:A:G
                          Gene:
                          RHOT1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000017.11:g.32203951A>G, NC_000017.10:g.30530970A>G, NM_018307.5:c.1394A>G, NM_018307.4:c.1394A>G, NM_018307.3:c.1394A>G, XM_011524973.3:c.1394A>G, XM_011524973.2:c.1394A>G, XM_011524973.1:c.1331A>G, NM_001033568.3:c.1394A>G, NM_001033568.2:c.1394A>G, NM_001033568.1:c.1394A>G, NM_001033567.3:c.1013A>G, NM_001033567.2:c.1013A>G, NM_001033567.1:c.*1362A>G, NM_001033566.3:c.1394A>G, NM_001033566.2:c.1394A>G, NM_001033566.1:c.1394A>G, XM_011524969.3:c.1331A>G, XM_011524969.2:c.1331A>G, XM_011524969.1:c.1331A>G, NR_110083.2:n.1585A>G, NR_110083.1:n.1633A>G, NM_001288758.2:c.1013A>G, NM_001288758.1:c.1013A>G, NM_001288754.2:c.1394A>G, NM_001288754.1:c.1394A>G, NM_001288755.2:c.1331A>G, NM_001288755.1:c.1331A>G, XM_047436362.1:c.1394A>G, XM_047436353.1:c.1487A>G, XM_047436355.1:c.1487A>G, XM_047436359.1:c.1487A>G, XM_047436363.1:c.1013A>G, XM_047436357.1:c.1331A>G, XM_047436364.1:c.1013A>G, XM_047436358.1:c.1391A>G, XM_047436360.1:c.1391A>G, XM_047436361.1:c.1394A>G, XM_047436354.1:c.1331A>G, XM_047436356.1:c.1331A>G, NP_060777.3:p.Tyr465Cys, XP_011523275.2:p.Tyr465Cys, NP_001028740.1:p.Tyr465Cys, NP_001028739.2:p.Tyr338Cys, NP_001028738.1:p.Tyr465Cys, XP_011523271.1:p.Tyr444Cys, NP_001275687.1:p.Tyr338Cys, NP_001275683.1:p.Tyr465Cys, NP_001275684.1:p.Tyr444Cys, XP_047292318.1:p.Tyr465Cys, XP_047292309.1:p.Tyr496Cys, XP_047292311.1:p.Tyr496Cys, XP_047292315.1:p.Tyr496Cys, XP_047292319.1:p.Tyr338Cys, XP_047292313.1:p.Tyr444Cys, XP_047292320.1:p.Tyr338Cys, XP_047292314.1:p.Tyr464Cys, XP_047292316.1:p.Tyr464Cys, XP_047292317.1:p.Tyr465Cys, XP_047292310.1:p.Tyr444Cys, XP_047292312.1:p.Tyr444Cys

                          13.

                          rs1475323824 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            17:32194014 (GRCh38)
                            17:30521033 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:32194013:T:C
                            Gene:
                            RHOT1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000008/2 (TOPMED)
                            C=0.000014/2 (GnomAD)
                            HGVS:
                            NC_000017.11:g.32194014T>C, NC_000017.10:g.30521033T>C, NM_018307.5:c.776T>C, NM_018307.4:c.776T>C, NM_018307.3:c.776T>C, XM_011524973.3:c.776T>C, XM_011524973.2:c.776T>C, XM_011524973.1:c.713T>C, NM_001033568.3:c.776T>C, NM_001033568.2:c.776T>C, NM_001033568.1:c.776T>C, NM_001033567.3:c.395T>C, NM_001033567.2:c.395T>C, NM_001033567.1:c.*744T>C, NM_001033566.3:c.776T>C, NM_001033566.2:c.776T>C, NM_001033566.1:c.776T>C, XM_011524969.3:c.713T>C, XM_011524969.2:c.713T>C, XM_011524969.1:c.713T>C, NR_110083.2:n.967T>C, NR_110083.1:n.1015T>C, NM_001288758.2:c.395T>C, NM_001288758.1:c.395T>C, NM_001288754.2:c.776T>C, NM_001288754.1:c.776T>C, NM_001288755.2:c.713T>C, NM_001288755.1:c.713T>C, XM_047436362.1:c.776T>C, XM_047436353.1:c.869T>C, XM_047436355.1:c.869T>C, XM_047436359.1:c.869T>C, XM_047436363.1:c.395T>C, XM_047436357.1:c.713T>C, XM_047436364.1:c.395T>C, XM_047436358.1:c.773T>C, XM_047436360.1:c.773T>C, XM_047436361.1:c.776T>C, XM_047436354.1:c.713T>C, XM_047436356.1:c.713T>C, NP_060777.3:p.Ile259Thr, XP_011523275.2:p.Ile259Thr, NP_001028740.1:p.Ile259Thr, NP_001028739.2:p.Ile132Thr, NP_001028738.1:p.Ile259Thr, XP_011523271.1:p.Ile238Thr, NP_001275687.1:p.Ile132Thr, NP_001275683.1:p.Ile259Thr, NP_001275684.1:p.Ile238Thr, XP_047292318.1:p.Ile259Thr, XP_047292309.1:p.Ile290Thr, XP_047292311.1:p.Ile290Thr, XP_047292315.1:p.Ile290Thr, XP_047292319.1:p.Ile132Thr, XP_047292313.1:p.Ile238Thr, XP_047292320.1:p.Ile132Thr, XP_047292314.1:p.Ile258Thr, XP_047292316.1:p.Ile258Thr, XP_047292317.1:p.Ile259Thr, XP_047292310.1:p.Ile238Thr, XP_047292312.1:p.Ile238Thr

                            14.

                            rs1468783666 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              17:32182794 (GRCh38)
                              17:30509813 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:32182793:G:A,NC_000017.11:32182793:G:T
                              Gene:
                              RHOT1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              A=0.000008/2 (GnomAD_exomes)
                              HGVS:
                              NC_000017.11:g.32182794G>A, NC_000017.11:g.32182794G>T, NC_000017.10:g.30509813G>A, NC_000017.10:g.30509813G>T, NM_018307.5:c.367G>A, NM_018307.5:c.367G>T, NM_018307.4:c.367G>A, NM_018307.4:c.367G>T, NM_018307.3:c.367G>A, NM_018307.3:c.367G>T, XM_011524973.3:c.367G>A, XM_011524973.3:c.367G>T, XM_011524973.2:c.367G>A, XM_011524973.2:c.367G>T, XM_011524973.1:c.304G>A, XM_011524973.1:c.304G>T, NM_001033568.3:c.367G>A, NM_001033568.3:c.367G>T, NM_001033568.2:c.367G>A, NM_001033568.2:c.367G>T, NM_001033568.1:c.367G>A, NM_001033568.1:c.367G>T, NM_001033567.3:c.-15G>A, NM_001033567.3:c.-15G>T, NM_001033567.2:c.-15G>A, NM_001033567.2:c.-15G>T, NM_001033567.1:c.*335G>A, NM_001033567.1:c.*335G>T, NM_001033566.3:c.367G>A, NM_001033566.3:c.367G>T, NM_001033566.2:c.367G>A, NM_001033566.2:c.367G>T, NM_001033566.1:c.367G>A, NM_001033566.1:c.367G>T, XM_011524969.3:c.304G>A, XM_011524969.3:c.304G>T, XM_011524969.2:c.304G>A, XM_011524969.2:c.304G>T, XM_011524969.1:c.304G>A, XM_011524969.1:c.304G>T, NR_110083.2:n.558G>A, NR_110083.2:n.558G>T, NR_110083.1:n.606G>A, NR_110083.1:n.606G>T, NM_001288758.2:c.-15G>A, NM_001288758.2:c.-15G>T, NM_001288758.1:c.-15G>A, NM_001288758.1:c.-15G>T, NM_001288754.2:c.367G>A, NM_001288754.2:c.367G>T, NM_001288754.1:c.367G>A, NM_001288754.1:c.367G>T, NM_001288755.2:c.304G>A, NM_001288755.2:c.304G>T, NM_001288755.1:c.304G>A, NM_001288755.1:c.304G>T, XM_047436362.1:c.367G>A, XM_047436362.1:c.367G>T, XM_047436353.1:c.460G>A, XM_047436353.1:c.460G>T, XM_047436355.1:c.460G>A, XM_047436355.1:c.460G>T, XM_047436359.1:c.460G>A, XM_047436359.1:c.460G>T, XM_047436363.1:c.-15G>A, XM_047436363.1:c.-15G>T, XM_047436357.1:c.304G>A, XM_047436357.1:c.304G>T, XM_047436364.1:c.-15G>A, XM_047436364.1:c.-15G>T, XM_047436358.1:c.364G>A, XM_047436358.1:c.364G>T, XM_047436360.1:c.364G>A, XM_047436360.1:c.364G>T, XM_047436361.1:c.367G>A, XM_047436361.1:c.367G>T, XM_047436354.1:c.304G>A, XM_047436354.1:c.304G>T, XM_047436356.1:c.304G>A, XM_047436356.1:c.304G>T, NP_060777.3:p.Val123Met, NP_060777.3:p.Val123Leu, XP_011523275.2:p.Val123Met, XP_011523275.2:p.Val123Leu, NP_001028740.1:p.Val123Met, NP_001028740.1:p.Val123Leu, NP_001028738.1:p.Val123Met, NP_001028738.1:p.Val123Leu, XP_011523271.1:p.Val102Met, XP_011523271.1:p.Val102Leu, NP_001275683.1:p.Val123Met, NP_001275683.1:p.Val123Leu, NP_001275684.1:p.Val102Met, NP_001275684.1:p.Val102Leu, XP_047292318.1:p.Val123Met, XP_047292318.1:p.Val123Leu, XP_047292309.1:p.Val154Met, XP_047292309.1:p.Val154Leu, XP_047292311.1:p.Val154Met, XP_047292311.1:p.Val154Leu, XP_047292315.1:p.Val154Met, XP_047292315.1:p.Val154Leu, XP_047292313.1:p.Val102Met, XP_047292313.1:p.Val102Leu, XP_047292314.1:p.Val122Met, XP_047292314.1:p.Val122Leu, XP_047292316.1:p.Val122Met, XP_047292316.1:p.Val122Leu, XP_047292317.1:p.Val123Met, XP_047292317.1:p.Val123Leu, XP_047292310.1:p.Val102Met, XP_047292310.1:p.Val102Leu, XP_047292312.1:p.Val102Met, XP_047292312.1:p.Val102Leu

                              15.

                              rs1465618874 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                17:32202810 (GRCh38)
                                17:30529829 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:32202809:T:C
                                Gene:
                                RHOT1 (Varview)
                                Functional Consequence:
                                synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000011/3 (TOPMED)
                                C=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000017.11:g.32202810T>C, NC_000017.10:g.30529829T>C, NM_018307.5:c.1242T>C, NM_018307.4:c.1242T>C, NM_018307.3:c.1242T>C, XM_011524973.3:c.1242T>C, XM_011524973.2:c.1242T>C, XM_011524973.1:c.1179T>C, NM_001033568.3:c.1242T>C, NM_001033568.2:c.1242T>C, NM_001033568.1:c.1242T>C, NM_001033567.3:c.861T>C, NM_001033567.2:c.861T>C, NM_001033567.1:c.*1210T>C, NM_001033566.3:c.1242T>C, NM_001033566.2:c.1242T>C, NM_001033566.1:c.1242T>C, XM_011524969.3:c.1179T>C, XM_011524969.2:c.1179T>C, XM_011524969.1:c.1179T>C, NR_110083.2:n.1433T>C, NR_110083.1:n.1481T>C, NM_001288758.2:c.861T>C, NM_001288758.1:c.861T>C, NM_001288754.2:c.1242T>C, NM_001288754.1:c.1242T>C, NM_001288755.2:c.1179T>C, NM_001288755.1:c.1179T>C, XM_047436362.1:c.1242T>C, XM_047436353.1:c.1335T>C, XM_047436355.1:c.1335T>C, XM_047436359.1:c.1335T>C, XM_047436363.1:c.861T>C, XM_047436357.1:c.1179T>C, XM_047436364.1:c.861T>C, XM_047436358.1:c.1239T>C, XM_047436360.1:c.1239T>C, XM_047436361.1:c.1242T>C, XM_047436354.1:c.1179T>C, XM_047436356.1:c.1179T>C

                                16.

                                rs1461431711 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  17:32173858 (GRCh38)
                                  17:30500877 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:32173857:A:G
                                  Gene:
                                  RHOT1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0./0 (GnomAD)
                                  G=0.000008/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000017.11:g.32173858A>G, NC_000017.10:g.30500877A>G, NM_018307.5:c.124A>G, NM_018307.4:c.124A>G, NM_018307.3:c.124A>G, XM_011524973.3:c.124A>G, XM_011524973.2:c.124A>G, XM_011524973.1:c.61A>G, NM_001033568.3:c.124A>G, NM_001033568.2:c.124A>G, NM_001033568.1:c.124A>G, NM_001033567.3:c.-258A>G, NM_001033567.2:c.-258A>G, NM_001033567.1:c.*92A>G, NM_001033566.3:c.124A>G, NM_001033566.2:c.124A>G, NM_001033566.1:c.124A>G, XM_011524969.3:c.61A>G, XM_011524969.2:c.61A>G, XM_011524969.1:c.61A>G, NR_110083.2:n.315A>G, NR_110083.1:n.363A>G, NM_001288758.2:c.-258A>G, NM_001288758.1:c.-258A>G, NM_001288754.2:c.124A>G, NM_001288754.1:c.124A>G, NM_001288755.2:c.61A>G, NM_001288755.1:c.61A>G, XM_047436362.1:c.124A>G, XM_047436353.1:c.217A>G, XM_047436355.1:c.217A>G, XM_047436359.1:c.217A>G, XM_047436363.1:c.-258A>G, XM_047436357.1:c.61A>G, XM_047436364.1:c.-258A>G, XM_047436358.1:c.121A>G, XM_047436360.1:c.121A>G, XM_047436361.1:c.124A>G, XM_047436354.1:c.61A>G, XM_047436356.1:c.61A>G, NP_060777.3:p.Ile42Val, XP_011523275.2:p.Ile42Val, NP_001028740.1:p.Ile42Val, NP_001028738.1:p.Ile42Val, XP_011523271.1:p.Ile21Val, NP_001275683.1:p.Ile42Val, NP_001275684.1:p.Ile21Val, XP_047292318.1:p.Ile42Val, XP_047292309.1:p.Ile73Val, XP_047292311.1:p.Ile73Val, XP_047292315.1:p.Ile73Val, XP_047292313.1:p.Ile21Val, XP_047292314.1:p.Ile41Val, XP_047292316.1:p.Ile41Val, XP_047292317.1:p.Ile42Val, XP_047292310.1:p.Ile21Val, XP_047292312.1:p.Ile21Val

                                  17.

                                  rs1460903475 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    17:32182825 (GRCh38)
                                    17:30509844 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:32182824:C:G
                                    Gene:
                                    RHOT1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000017.11:g.32182825C>G, NC_000017.10:g.30509844C>G, NM_018307.5:c.398C>G, NM_018307.4:c.398C>G, NM_018307.3:c.398C>G, XM_011524973.3:c.398C>G, XM_011524973.2:c.398C>G, XM_011524973.1:c.335C>G, NM_001033568.3:c.398C>G, NM_001033568.2:c.398C>G, NM_001033568.1:c.398C>G, NM_001033567.3:c.17C>G, NM_001033567.2:c.17C>G, NM_001033567.1:c.*366C>G, NM_001033566.3:c.398C>G, NM_001033566.2:c.398C>G, NM_001033566.1:c.398C>G, XM_011524969.3:c.335C>G, XM_011524969.2:c.335C>G, XM_011524969.1:c.335C>G, NR_110083.2:n.589C>G, NR_110083.1:n.637C>G, NM_001288758.2:c.17C>G, NM_001288758.1:c.17C>G, NM_001288754.2:c.398C>G, NM_001288754.1:c.398C>G, NM_001288755.2:c.335C>G, NM_001288755.1:c.335C>G, XM_047436362.1:c.398C>G, XM_047436353.1:c.491C>G, XM_047436355.1:c.491C>G, XM_047436359.1:c.491C>G, XM_047436363.1:c.17C>G, XM_047436357.1:c.335C>G, XM_047436364.1:c.17C>G, XM_047436358.1:c.395C>G, XM_047436360.1:c.395C>G, XM_047436361.1:c.398C>G, XM_047436354.1:c.335C>G, XM_047436356.1:c.335C>G, NP_060777.3:p.Pro133Arg, XP_011523275.2:p.Pro133Arg, NP_001028740.1:p.Pro133Arg, NP_001028739.2:p.Pro6Arg, NP_001028738.1:p.Pro133Arg, XP_011523271.1:p.Pro112Arg, NP_001275687.1:p.Pro6Arg, NP_001275683.1:p.Pro133Arg, NP_001275684.1:p.Pro112Arg, XP_047292318.1:p.Pro133Arg, XP_047292309.1:p.Pro164Arg, XP_047292311.1:p.Pro164Arg, XP_047292315.1:p.Pro164Arg, XP_047292319.1:p.Pro6Arg, XP_047292313.1:p.Pro112Arg, XP_047292320.1:p.Pro6Arg, XP_047292314.1:p.Pro132Arg, XP_047292316.1:p.Pro132Arg, XP_047292317.1:p.Pro133Arg, XP_047292310.1:p.Pro112Arg, XP_047292312.1:p.Pro112Arg

                                    18.

                                    rs1459251202 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      17:32183244 (GRCh38)
                                      17:30510263 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:32183243:G:A,NC_000017.11:32183243:G:C
                                      Gene:
                                      RHOT1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000017.11:g.32183244G>A, NC_000017.11:g.32183244G>C, NC_000017.10:g.30510263G>A, NC_000017.10:g.30510263G>C, NM_018307.5:c.512G>A, NM_018307.5:c.512G>C, NM_018307.4:c.512G>A, NM_018307.4:c.512G>C, NM_018307.3:c.512G>A, NM_018307.3:c.512G>C, XM_011524973.3:c.512G>A, XM_011524973.3:c.512G>C, XM_011524973.2:c.512G>A, XM_011524973.2:c.512G>C, XM_011524973.1:c.449G>A, XM_011524973.1:c.449G>C, NM_001033568.3:c.512G>A, NM_001033568.3:c.512G>C, NM_001033568.2:c.512G>A, NM_001033568.2:c.512G>C, NM_001033568.1:c.512G>A, NM_001033568.1:c.512G>C, NM_001033567.3:c.131G>A, NM_001033567.3:c.131G>C, NM_001033567.2:c.131G>A, NM_001033567.2:c.131G>C, NM_001033567.1:c.*480G>A, NM_001033567.1:c.*480G>C, NM_001033566.3:c.512G>A, NM_001033566.3:c.512G>C, NM_001033566.2:c.512G>A, NM_001033566.2:c.512G>C, NM_001033566.1:c.512G>A, NM_001033566.1:c.512G>C, XM_011524969.3:c.449G>A, XM_011524969.3:c.449G>C, XM_011524969.2:c.449G>A, XM_011524969.2:c.449G>C, XM_011524969.1:c.449G>A, XM_011524969.1:c.449G>C, NR_110083.2:n.703G>A, NR_110083.2:n.703G>C, NR_110083.1:n.751G>A, NR_110083.1:n.751G>C, NM_001288758.2:c.131G>A, NM_001288758.2:c.131G>C, NM_001288758.1:c.131G>A, NM_001288758.1:c.131G>C, NM_001288754.2:c.512G>A, NM_001288754.2:c.512G>C, NM_001288754.1:c.512G>A, NM_001288754.1:c.512G>C, NM_001288755.2:c.449G>A, NM_001288755.2:c.449G>C, NM_001288755.1:c.449G>A, NM_001288755.1:c.449G>C, XM_047436362.1:c.512G>A, XM_047436362.1:c.512G>C, XM_047436353.1:c.605G>A, XM_047436353.1:c.605G>C, XM_047436355.1:c.605G>A, XM_047436355.1:c.605G>C, XM_047436359.1:c.605G>A, XM_047436359.1:c.605G>C, XM_047436363.1:c.131G>A, XM_047436363.1:c.131G>C, XM_047436357.1:c.449G>A, XM_047436357.1:c.449G>C, XM_047436364.1:c.131G>A, XM_047436364.1:c.131G>C, XM_047436358.1:c.509G>A, XM_047436358.1:c.509G>C, XM_047436360.1:c.509G>A, XM_047436360.1:c.509G>C, XM_047436361.1:c.512G>A, XM_047436361.1:c.512G>C, XM_047436354.1:c.449G>A, XM_047436354.1:c.449G>C, XM_047436356.1:c.449G>A, XM_047436356.1:c.449G>C, NP_060777.3:p.Gly171Glu, NP_060777.3:p.Gly171Ala, XP_011523275.2:p.Gly171Glu, XP_011523275.2:p.Gly171Ala, NP_001028740.1:p.Gly171Glu, NP_001028740.1:p.Gly171Ala, NP_001028739.2:p.Gly44Glu, NP_001028739.2:p.Gly44Ala, NP_001028738.1:p.Gly171Glu, NP_001028738.1:p.Gly171Ala, XP_011523271.1:p.Gly150Glu, XP_011523271.1:p.Gly150Ala, NP_001275687.1:p.Gly44Glu, NP_001275687.1:p.Gly44Ala, NP_001275683.1:p.Gly171Glu, NP_001275683.1:p.Gly171Ala, NP_001275684.1:p.Gly150Glu, NP_001275684.1:p.Gly150Ala, XP_047292318.1:p.Gly171Glu, XP_047292318.1:p.Gly171Ala, XP_047292309.1:p.Gly202Glu, XP_047292309.1:p.Gly202Ala, XP_047292311.1:p.Gly202Glu, XP_047292311.1:p.Gly202Ala, XP_047292315.1:p.Gly202Glu, XP_047292315.1:p.Gly202Ala, XP_047292319.1:p.Gly44Glu, XP_047292319.1:p.Gly44Ala, XP_047292313.1:p.Gly150Glu, XP_047292313.1:p.Gly150Ala, XP_047292320.1:p.Gly44Glu, XP_047292320.1:p.Gly44Ala, XP_047292314.1:p.Gly170Glu, XP_047292314.1:p.Gly170Ala, XP_047292316.1:p.Gly170Glu, XP_047292316.1:p.Gly170Ala, XP_047292317.1:p.Gly171Glu, XP_047292317.1:p.Gly171Ala, XP_047292310.1:p.Gly150Glu, XP_047292310.1:p.Gly150Ala, XP_047292312.1:p.Gly150Glu, XP_047292312.1:p.Gly150Ala

                                      19.

                                      rs1456401049 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        17:32203962 (GRCh38)
                                        17:30530981 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:32203961:A:G
                                        Gene:
                                        RHOT1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000017.11:g.32203962A>G, NC_000017.10:g.30530981A>G, NM_018307.5:c.1405A>G, NM_018307.4:c.1405A>G, NM_018307.3:c.1405A>G, XM_011524973.3:c.1405A>G, XM_011524973.2:c.1405A>G, XM_011524973.1:c.1342A>G, NM_001033568.3:c.1405A>G, NM_001033568.2:c.1405A>G, NM_001033568.1:c.1405A>G, NM_001033567.3:c.1024A>G, NM_001033567.2:c.1024A>G, NM_001033567.1:c.*1373A>G, NM_001033566.3:c.1405A>G, NM_001033566.2:c.1405A>G, NM_001033566.1:c.1405A>G, XM_011524969.3:c.1342A>G, XM_011524969.2:c.1342A>G, XM_011524969.1:c.1342A>G, NR_110083.2:n.1596A>G, NR_110083.1:n.1644A>G, NM_001288758.2:c.1024A>G, NM_001288758.1:c.1024A>G, NM_001288754.2:c.1405A>G, NM_001288754.1:c.1405A>G, NM_001288755.2:c.1342A>G, NM_001288755.1:c.1342A>G, XM_047436362.1:c.1405A>G, XM_047436353.1:c.1498A>G, XM_047436355.1:c.1498A>G, XM_047436359.1:c.1498A>G, XM_047436363.1:c.1024A>G, XM_047436357.1:c.1342A>G, XM_047436364.1:c.1024A>G, XM_047436358.1:c.1402A>G, XM_047436360.1:c.1402A>G, XM_047436361.1:c.1405A>G, XM_047436354.1:c.1342A>G, XM_047436356.1:c.1342A>G, NP_060777.3:p.Lys469Glu, XP_011523275.2:p.Lys469Glu, NP_001028740.1:p.Lys469Glu, NP_001028739.2:p.Lys342Glu, NP_001028738.1:p.Lys469Glu, XP_011523271.1:p.Lys448Glu, NP_001275687.1:p.Lys342Glu, NP_001275683.1:p.Lys469Glu, NP_001275684.1:p.Lys448Glu, XP_047292318.1:p.Lys469Glu, XP_047292309.1:p.Lys500Glu, XP_047292311.1:p.Lys500Glu, XP_047292315.1:p.Lys500Glu, XP_047292319.1:p.Lys342Glu, XP_047292313.1:p.Lys448Glu, XP_047292320.1:p.Lys342Glu, XP_047292314.1:p.Lys468Glu, XP_047292316.1:p.Lys468Glu, XP_047292317.1:p.Lys469Glu, XP_047292310.1:p.Lys448Glu, XP_047292312.1:p.Lys448Glu

                                        20.

                                        rs1455564891 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          17:32193152 (GRCh38)
                                          17:30520171 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:32193151:C:T
                                          Gene:
                                          RHOT1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,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_000017.11:g.32193152C>T, NC_000017.10:g.30520171C>T, NM_018307.5:c.656C>T, NM_018307.4:c.656C>T, NM_018307.3:c.656C>T, XM_011524973.3:c.656C>T, XM_011524973.2:c.656C>T, XM_011524973.1:c.593C>T, NM_001033568.3:c.656C>T, NM_001033568.2:c.656C>T, NM_001033568.1:c.656C>T, NM_001033567.3:c.275C>T, NM_001033567.2:c.275C>T, NM_001033567.1:c.*624C>T, NM_001033566.3:c.656C>T, NM_001033566.2:c.656C>T, NM_001033566.1:c.656C>T, XM_011524969.3:c.593C>T, XM_011524969.2:c.593C>T, XM_011524969.1:c.593C>T, NR_110083.2:n.847C>T, NR_110083.1:n.895C>T, NM_001288758.2:c.275C>T, NM_001288758.1:c.275C>T, NM_001288754.2:c.656C>T, NM_001288754.1:c.656C>T, NM_001288755.2:c.593C>T, NM_001288755.1:c.593C>T, XM_047436362.1:c.656C>T, XM_047436353.1:c.749C>T, XM_047436355.1:c.749C>T, XM_047436359.1:c.749C>T, XM_047436363.1:c.275C>T, XM_047436357.1:c.593C>T, XM_047436364.1:c.275C>T, XM_047436358.1:c.653C>T, XM_047436360.1:c.653C>T, XM_047436361.1:c.656C>T, XM_047436354.1:c.593C>T, XM_047436356.1:c.593C>T, NP_060777.3:p.Thr219Ile, XP_011523275.2:p.Thr219Ile, NP_001028740.1:p.Thr219Ile, NP_001028739.2:p.Thr92Ile, NP_001028738.1:p.Thr219Ile, XP_011523271.1:p.Thr198Ile, NP_001275687.1:p.Thr92Ile, NP_001275683.1:p.Thr219Ile, NP_001275684.1:p.Thr198Ile, XP_047292318.1:p.Thr219Ile, XP_047292309.1:p.Thr250Ile, XP_047292311.1:p.Thr250Ile, XP_047292315.1:p.Thr250Ile, XP_047292319.1:p.Thr92Ile, XP_047292313.1:p.Thr198Ile, XP_047292320.1:p.Thr92Ile, XP_047292314.1:p.Thr218Ile, XP_047292316.1:p.Thr218Ile, XP_047292317.1:p.Thr219Ile, XP_047292310.1:p.Thr198Ile, XP_047292312.1:p.Thr198Ile

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