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Items: 1 to 20 of 532

1.

rs1490299842 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    10:60871593 (GRCh38)
    10:62631351 (GRCh37)
    Canonical SPDI:
    NC_000010.11:60871592:T:G
    Gene:
    RHOBTB1 (Varview)
    Functional Consequence:
    3_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    G=0.000007/1 (GnomAD)
    HGVS:
    NC_000010.11:g.60871593T>G, NC_000010.10:g.62631351T>G, NM_014836.5:c.1980A>C, NM_014836.4:c.1980A>C, XM_017017000.3:c.1980A>C, XM_017017000.2:c.1980A>C, XM_017017000.1:c.1980A>C, XM_017017002.3:c.*8A>C, XM_017017002.2:c.*8A>C, XM_017017002.1:c.*8A>C, XM_024448273.2:c.1980A>C, XM_024448273.1:c.1980A>C, NM_001242359.2:c.1980A>C, NM_001242359.1:c.1980A>C, NM_001350906.2:c.1620A>C, NM_001350906.1:c.1620A>C, XM_024448270.2:c.1980A>C, XM_024448270.1:c.1980A>C, NM_001350908.2:c.1620A>C, NM_001350908.1:c.1620A>C, NM_001350907.2:c.1620A>C, NM_001350907.1:c.1620A>C, NM_001350903.2:c.1980A>C, NM_001350903.1:c.1980A>C, NR_024554.2:n.2220A>C, NM_001350909.2:c.1620A>C, NM_001350909.1:c.1620A>C, XM_024448272.2:c.1980A>C, XM_024448272.1:c.1980A>C, XM_006718085.2:c.1980A>C, XM_006718085.1:c.1980A>C, NM_001350902.2:c.1980A>C, NM_001350902.1:c.1980A>C, NM_001350911.2:c.1620A>C, NM_001350911.1:c.1620A>C, NM_001350910.2:c.1620A>C, NM_001350910.1:c.1620A>C, NM_001350904.2:c.1980A>C, NM_001350904.1:c.1980A>C, XM_024448271.2:c.1980A>C, XM_024448271.1:c.1980A>C, NM_001350905.2:c.1980A>C, NM_001350905.1:c.1980A>C, XM_011540425.2:c.*8A>C, XM_011540425.1:c.*8A>C, XM_011540424.2:c.1980A>C, XM_011540424.1:c.1980A>C, XM_047426077.1:c.1980A>C, XM_047426083.1:c.1980A>C, XM_047426084.1:c.1980A>C, XM_047426090.1:c.1980A>C, XM_047426097.1:c.*8A>C, NR_024556.1:n.2418A>C, XM_047426076.1:c.1980A>C, XM_047426078.1:c.1980A>C, XM_047426079.1:c.1980A>C, XM_047426075.1:c.1980A>C, XM_047426082.1:c.1980A>C, XM_047426086.1:c.1980A>C, XM_047426096.1:c.*8A>C, NM_198225.1:c.1980A>C, XM_047426089.1:c.1980A>C, XM_047426074.1:c.1980A>C, XM_047426088.1:c.1980A>C, NR_024555.1:n.2184A>C, NM_001032380.1:c.1980A>C, XM_047426093.1:c.1980A>C, XM_047426094.1:c.1980A>C, XM_047426091.1:c.1980A>C, XR_007062021.1:n.2154A>C, XR_007062020.1:n.2150A>C, XM_047426099.1:c.*8A>C, XM_047426092.1:c.1980A>C, XM_047426098.1:c.*8A>C, XM_047426087.1:c.1980A>C, XM_047426081.1:c.1980A>C, XR_007062022.1:n.2150A>C, XM_047426095.1:c.1980A>C, XM_047426080.1:c.1980A>C, NP_055651.1:p.Glu660Asp, XP_016872489.1:p.Glu660Asp, XP_024304041.1:p.Glu660Asp, NP_001229288.1:p.Glu660Asp, NP_001337835.1:p.Glu540Asp, XP_024304038.1:p.Glu660Asp, NP_001337837.1:p.Glu540Asp, NP_001337836.1:p.Glu540Asp, NP_001337832.1:p.Glu660Asp, NP_001337838.1:p.Glu540Asp, XP_024304040.1:p.Glu660Asp, XP_006718148.1:p.Glu660Asp, NP_001337831.1:p.Glu660Asp, NP_001337840.1:p.Glu540Asp, NP_001337839.1:p.Glu540Asp, NP_001337833.1:p.Glu660Asp, XP_024304039.1:p.Glu660Asp, NP_001337834.1:p.Glu660Asp, XP_011538726.1:p.Glu660Asp, XP_047282033.1:p.Glu660Asp, XP_047282039.1:p.Glu660Asp, XP_047282040.1:p.Glu660Asp, XP_047282046.1:p.Glu660Asp, XP_047282032.1:p.Glu660Asp, XP_047282034.1:p.Glu660Asp, XP_047282035.1:p.Glu660Asp, XP_047282031.1:p.Glu660Asp, XP_047282038.1:p.Glu660Asp, XP_047282042.1:p.Glu660Asp, XP_047282045.1:p.Glu660Asp, XP_047282030.1:p.Glu660Asp, XP_047282044.1:p.Glu660Asp, XP_047282049.1:p.Glu660Asp, XP_047282050.1:p.Glu660Asp, XP_047282047.1:p.Glu660Asp, XP_047282048.1:p.Glu660Asp, XP_047282043.1:p.Glu660Asp, XP_047282037.1:p.Glu660Asp, XP_047282051.1:p.Glu660Asp, XP_047282036.1:p.Glu660Asp

    2.

    rs1484828070 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      10:60871624 (GRCh38)
      10:62631382 (GRCh37)
      Canonical SPDI:
      NC_000010.11:60871623:C:T
      Gene:
      RHOBTB1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000010.11:g.60871624C>T, NC_000010.10:g.62631382C>T, NM_014836.5:c.1949G>A, NM_014836.4:c.1949G>A, XM_017017000.3:c.1949G>A, XM_017017000.2:c.1949G>A, XM_017017000.1:c.1949G>A, XM_017017002.3:c.1843G>A, XM_017017002.2:c.1843G>A, XM_017017002.1:c.1843G>A, XM_024448273.2:c.1949G>A, XM_024448273.1:c.1949G>A, NM_001242359.2:c.1949G>A, NM_001242359.1:c.1949G>A, NM_001350906.2:c.1589G>A, NM_001350906.1:c.1589G>A, XM_024448270.2:c.1949G>A, XM_024448270.1:c.1949G>A, NM_001350908.2:c.1589G>A, NM_001350908.1:c.1589G>A, NM_001350907.2:c.1589G>A, NM_001350907.1:c.1589G>A, NM_001350903.2:c.1949G>A, NM_001350903.1:c.1949G>A, NR_024554.2:n.2189G>A, NM_001350909.2:c.1589G>A, NM_001350909.1:c.1589G>A, XM_024448272.2:c.1949G>A, XM_024448272.1:c.1949G>A, XM_006718085.2:c.1949G>A, XM_006718085.1:c.1949G>A, NM_001350902.2:c.1949G>A, NM_001350902.1:c.1949G>A, NM_001350911.2:c.1589G>A, NM_001350911.1:c.1589G>A, NM_001350910.2:c.1589G>A, NM_001350910.1:c.1589G>A, NM_001350904.2:c.1949G>A, NM_001350904.1:c.1949G>A, XM_024448271.2:c.1949G>A, XM_024448271.1:c.1949G>A, NM_001350905.2:c.1949G>A, NM_001350905.1:c.1949G>A, XM_011540425.2:c.1843G>A, XM_011540425.1:c.1843G>A, XM_011540424.2:c.1949G>A, XM_011540424.1:c.1949G>A, XM_047426077.1:c.1949G>A, XM_047426083.1:c.1949G>A, XM_047426084.1:c.1949G>A, XM_047426090.1:c.1949G>A, XM_047426097.1:c.1843G>A, NR_024556.1:n.2387G>A, XM_047426076.1:c.1949G>A, XM_047426078.1:c.1949G>A, XM_047426079.1:c.1949G>A, XM_047426075.1:c.1949G>A, XM_047426082.1:c.1949G>A, XM_047426086.1:c.1949G>A, XM_047426096.1:c.1843G>A, NM_198225.1:c.1949G>A, XM_047426089.1:c.1949G>A, XM_047426074.1:c.1949G>A, XM_047426088.1:c.1949G>A, NR_024555.1:n.2153G>A, NM_001032380.1:c.1949G>A, XM_047426093.1:c.1949G>A, XM_047426094.1:c.1949G>A, XM_047426091.1:c.1949G>A, XR_007062021.1:n.2123G>A, XR_007062020.1:n.2119G>A, XM_047426099.1:c.1843G>A, XM_047426092.1:c.1949G>A, XM_047426098.1:c.1843G>A, XM_047426087.1:c.1949G>A, XM_047426081.1:c.1949G>A, XR_007062022.1:n.2119G>A, XM_047426095.1:c.1949G>A, XM_047426080.1:c.1949G>A, NP_055651.1:p.Arg650His, XP_016872489.1:p.Arg650His, XP_016872491.1:p.Ala615Thr, XP_024304041.1:p.Arg650His, NP_001229288.1:p.Arg650His, NP_001337835.1:p.Arg530His, XP_024304038.1:p.Arg650His, NP_001337837.1:p.Arg530His, NP_001337836.1:p.Arg530His, NP_001337832.1:p.Arg650His, NP_001337838.1:p.Arg530His, XP_024304040.1:p.Arg650His, XP_006718148.1:p.Arg650His, NP_001337831.1:p.Arg650His, NP_001337840.1:p.Arg530His, NP_001337839.1:p.Arg530His, NP_001337833.1:p.Arg650His, XP_024304039.1:p.Arg650His, NP_001337834.1:p.Arg650His, XP_011538727.1:p.Ala615Thr, XP_011538726.1:p.Arg650His, XP_047282033.1:p.Arg650His, XP_047282039.1:p.Arg650His, XP_047282040.1:p.Arg650His, XP_047282046.1:p.Arg650His, XP_047282053.1:p.Ala615Thr, XP_047282032.1:p.Arg650His, XP_047282034.1:p.Arg650His, XP_047282035.1:p.Arg650His, XP_047282031.1:p.Arg650His, XP_047282038.1:p.Arg650His, XP_047282042.1:p.Arg650His, XP_047282052.1:p.Ala615Thr, XP_047282045.1:p.Arg650His, XP_047282030.1:p.Arg650His, XP_047282044.1:p.Arg650His, XP_047282049.1:p.Arg650His, XP_047282050.1:p.Arg650His, XP_047282047.1:p.Arg650His, XP_047282055.1:p.Ala615Thr, XP_047282048.1:p.Arg650His, XP_047282054.1:p.Ala615Thr, XP_047282043.1:p.Arg650His, XP_047282037.1:p.Arg650His, XP_047282051.1:p.Arg650His, XP_047282036.1:p.Arg650His

      3.

      rs1482269586 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        10:60892829 (GRCh38)
        10:62652587 (GRCh37)
        Canonical SPDI:
        NC_000010.11:60892828:C:T
        Gene:
        RHOBTB1 (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 (TOPMED)
        T=0.000007/1 (GnomAD)
        T=0.000035/1 (TOMMO)
        HGVS:
        NC_000010.11:g.60892829C>T, NC_000010.10:g.62652587C>T, NM_014836.5:c.463G>A, NM_014836.4:c.463G>A, XM_017017000.3:c.463G>A, XM_017017000.2:c.463G>A, XM_017017000.1:c.463G>A, XM_017017002.3:c.463G>A, XM_017017002.2:c.463G>A, XM_017017002.1:c.463G>A, XM_024448273.2:c.463G>A, XM_024448273.1:c.463G>A, XM_011540428.2:c.463G>A, XM_011540428.1:c.463G>A, NM_001242359.2:c.463G>A, NM_001242359.1:c.463G>A, NM_001350906.2:c.103G>A, NM_001350906.1:c.103G>A, XM_024448270.2:c.463G>A, XM_024448270.1:c.463G>A, NM_001350908.2:c.103G>A, NM_001350908.1:c.103G>A, NM_001350907.2:c.103G>A, NM_001350907.1:c.103G>A, NM_001350903.2:c.463G>A, NM_001350903.1:c.463G>A, NR_024554.2:n.703G>A, NM_001350909.2:c.103G>A, NM_001350909.1:c.103G>A, XM_024448272.2:c.463G>A, XM_024448272.1:c.463G>A, XM_006718085.2:c.463G>A, XM_006718085.1:c.463G>A, NM_001350902.2:c.463G>A, NM_001350902.1:c.463G>A, NM_001350911.2:c.103G>A, NM_001350911.1:c.103G>A, NM_001350910.2:c.103G>A, NM_001350910.1:c.103G>A, NM_001350904.2:c.463G>A, NM_001350904.1:c.463G>A, XM_024448271.2:c.463G>A, XM_024448271.1:c.463G>A, NM_001350905.2:c.463G>A, NM_001350905.1:c.463G>A, XM_011540425.2:c.463G>A, XM_011540425.1:c.463G>A, XM_011540424.2:c.463G>A, XM_011540424.1:c.463G>A, XM_047426077.1:c.463G>A, XM_047426103.1:c.463G>A, XM_047426102.1:c.463G>A, XM_047426083.1:c.463G>A, XM_047426084.1:c.463G>A, XM_047426105.1:c.463G>A, XM_047426104.1:c.463G>A, XM_047426090.1:c.463G>A, XM_047426097.1:c.463G>A, NR_024556.1:n.901G>A, XM_047426076.1:c.463G>A, XM_047426078.1:c.463G>A, XM_047426079.1:c.463G>A, XM_047426075.1:c.463G>A, XM_047426082.1:c.463G>A, XM_047426086.1:c.463G>A, XM_047426096.1:c.463G>A, NM_198225.1:c.463G>A, XM_047426089.1:c.463G>A, XM_047426074.1:c.463G>A, XM_047426088.1:c.463G>A, NR_024555.1:n.667G>A, NM_001032380.1:c.463G>A, XM_047426093.1:c.463G>A, XM_047426094.1:c.463G>A, XM_047426091.1:c.463G>A, XR_007062021.1:n.743G>A, XR_007062020.1:n.739G>A, XM_047426099.1:c.463G>A, XM_047426092.1:c.463G>A, XM_047426098.1:c.463G>A, XM_047426087.1:c.463G>A, XM_047426081.1:c.463G>A, XR_007062022.1:n.739G>A, XM_047426095.1:c.463G>A, XM_047426080.1:c.463G>A, XM_047426100.1:c.463G>A, NP_055651.1:p.Ala155Thr, XP_016872489.1:p.Ala155Thr, XP_016872491.1:p.Ala155Thr, XP_024304041.1:p.Ala155Thr, XP_011538730.1:p.Ala155Thr, NP_001229288.1:p.Ala155Thr, NP_001337835.1:p.Ala35Thr, XP_024304038.1:p.Ala155Thr, NP_001337837.1:p.Ala35Thr, NP_001337836.1:p.Ala35Thr, NP_001337832.1:p.Ala155Thr, NP_001337838.1:p.Ala35Thr, XP_024304040.1:p.Ala155Thr, XP_006718148.1:p.Ala155Thr, NP_001337831.1:p.Ala155Thr, NP_001337840.1:p.Ala35Thr, NP_001337839.1:p.Ala35Thr, NP_001337833.1:p.Ala155Thr, XP_024304039.1:p.Ala155Thr, NP_001337834.1:p.Ala155Thr, XP_011538727.1:p.Ala155Thr, XP_011538726.1:p.Ala155Thr, XP_047282033.1:p.Ala155Thr, XP_047282059.1:p.Ala155Thr, XP_047282058.1:p.Ala155Thr, XP_047282039.1:p.Ala155Thr, XP_047282040.1:p.Ala155Thr, XP_047282061.1:p.Ala155Thr, XP_047282060.1:p.Ala155Thr, XP_047282046.1:p.Ala155Thr, XP_047282053.1:p.Ala155Thr, XP_047282032.1:p.Ala155Thr, XP_047282034.1:p.Ala155Thr, XP_047282035.1:p.Ala155Thr, XP_047282031.1:p.Ala155Thr, XP_047282038.1:p.Ala155Thr, XP_047282042.1:p.Ala155Thr, XP_047282052.1:p.Ala155Thr, XP_047282045.1:p.Ala155Thr, XP_047282030.1:p.Ala155Thr, XP_047282044.1:p.Ala155Thr, XP_047282049.1:p.Ala155Thr, XP_047282050.1:p.Ala155Thr, XP_047282047.1:p.Ala155Thr, XP_047282055.1:p.Ala155Thr, XP_047282048.1:p.Ala155Thr, XP_047282054.1:p.Ala155Thr, XP_047282043.1:p.Ala155Thr, XP_047282037.1:p.Ala155Thr, XP_047282051.1:p.Ala155Thr, XP_047282036.1:p.Ala155Thr, XP_047282056.1:p.Ala155Thr

        4.

        rs1482229019 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          10:60888631 (GRCh38)
          10:62648389 (GRCh37)
          Canonical SPDI:
          NC_000010.11:60888630:C:T
          Gene:
          RHOBTB1 (Varview)
          Functional Consequence:
          coding_sequence_variant,stop_gained,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000010.11:g.60888631C>T, NC_000010.10:g.62648389C>T, NM_014836.5:c.1037G>A, NM_014836.4:c.1037G>A, XM_017017000.3:c.1037G>A, XM_017017000.2:c.1037G>A, XM_017017000.1:c.1037G>A, XM_017017002.3:c.1037G>A, XM_017017002.2:c.1037G>A, XM_017017002.1:c.1037G>A, XM_024448273.2:c.1037G>A, XM_024448273.1:c.1037G>A, XM_011540428.2:c.1037G>A, XM_011540428.1:c.1037G>A, NM_001242359.2:c.1037G>A, NM_001242359.1:c.1037G>A, NM_001350906.2:c.677G>A, NM_001350906.1:c.677G>A, XM_024448270.2:c.1037G>A, XM_024448270.1:c.1037G>A, NM_001350908.2:c.677G>A, NM_001350908.1:c.677G>A, NM_001350907.2:c.677G>A, NM_001350907.1:c.677G>A, NM_001350903.2:c.1037G>A, NM_001350903.1:c.1037G>A, NR_024554.2:n.1277G>A, NM_001350909.2:c.677G>A, NM_001350909.1:c.677G>A, XM_024448272.2:c.1037G>A, XM_024448272.1:c.1037G>A, XM_006718085.2:c.1037G>A, XM_006718085.1:c.1037G>A, NM_001350902.2:c.1037G>A, NM_001350902.1:c.1037G>A, NM_001350911.2:c.677G>A, NM_001350911.1:c.677G>A, NM_001350910.2:c.677G>A, NM_001350910.1:c.677G>A, NM_001350904.2:c.1037G>A, NM_001350904.1:c.1037G>A, XM_024448271.2:c.1037G>A, XM_024448271.1:c.1037G>A, NM_001350905.2:c.1037G>A, NM_001350905.1:c.1037G>A, XM_011540425.2:c.1037G>A, XM_011540425.1:c.1037G>A, XM_011540424.2:c.1037G>A, XM_011540424.1:c.1037G>A, XM_047426077.1:c.1037G>A, XM_047426103.1:c.1037G>A, XM_047426102.1:c.1037G>A, XM_047426083.1:c.1037G>A, XM_047426084.1:c.1037G>A, XM_047426105.1:c.1037G>A, XM_047426104.1:c.1037G>A, XM_047426090.1:c.1037G>A, XM_047426097.1:c.1037G>A, NR_024556.1:n.1475G>A, XM_047426076.1:c.1037G>A, XM_047426078.1:c.1037G>A, XM_047426079.1:c.1037G>A, XM_047426075.1:c.1037G>A, XM_047426082.1:c.1037G>A, XM_047426086.1:c.1037G>A, XM_047426096.1:c.1037G>A, NM_198225.1:c.1037G>A, XM_047426089.1:c.1037G>A, XM_047426074.1:c.1037G>A, XM_047426088.1:c.1037G>A, NR_024555.1:n.1241G>A, NM_001032380.1:c.1037G>A, XM_047426093.1:c.1037G>A, XM_047426094.1:c.1037G>A, XM_047426091.1:c.1037G>A, XR_007062021.1:n.1317G>A, XR_007062020.1:n.1313G>A, XM_047426099.1:c.1037G>A, XM_047426092.1:c.1037G>A, XM_047426098.1:c.1037G>A, XM_047426087.1:c.1037G>A, XM_047426081.1:c.1037G>A, XR_007062022.1:n.1313G>A, XM_047426095.1:c.1037G>A, XM_047426080.1:c.1037G>A, XM_047426100.1:c.1037G>A, NP_055651.1:p.Trp346Ter, XP_016872489.1:p.Trp346Ter, XP_016872491.1:p.Trp346Ter, XP_024304041.1:p.Trp346Ter, XP_011538730.1:p.Trp346Ter, NP_001229288.1:p.Trp346Ter, NP_001337835.1:p.Trp226Ter, XP_024304038.1:p.Trp346Ter, NP_001337837.1:p.Trp226Ter, NP_001337836.1:p.Trp226Ter, NP_001337832.1:p.Trp346Ter, NP_001337838.1:p.Trp226Ter, XP_024304040.1:p.Trp346Ter, XP_006718148.1:p.Trp346Ter, NP_001337831.1:p.Trp346Ter, NP_001337840.1:p.Trp226Ter, NP_001337839.1:p.Trp226Ter, NP_001337833.1:p.Trp346Ter, XP_024304039.1:p.Trp346Ter, NP_001337834.1:p.Trp346Ter, XP_011538727.1:p.Trp346Ter, XP_011538726.1:p.Trp346Ter, XP_047282033.1:p.Trp346Ter, XP_047282059.1:p.Trp346Ter, XP_047282058.1:p.Trp346Ter, XP_047282039.1:p.Trp346Ter, XP_047282040.1:p.Trp346Ter, XP_047282061.1:p.Trp346Ter, XP_047282060.1:p.Trp346Ter, XP_047282046.1:p.Trp346Ter, XP_047282053.1:p.Trp346Ter, XP_047282032.1:p.Trp346Ter, XP_047282034.1:p.Trp346Ter, XP_047282035.1:p.Trp346Ter, XP_047282031.1:p.Trp346Ter, XP_047282038.1:p.Trp346Ter, XP_047282042.1:p.Trp346Ter, XP_047282052.1:p.Trp346Ter, XP_047282045.1:p.Trp346Ter, XP_047282030.1:p.Trp346Ter, XP_047282044.1:p.Trp346Ter, XP_047282049.1:p.Trp346Ter, XP_047282050.1:p.Trp346Ter, XP_047282047.1:p.Trp346Ter, XP_047282055.1:p.Trp346Ter, XP_047282048.1:p.Trp346Ter, XP_047282054.1:p.Trp346Ter, XP_047282043.1:p.Trp346Ter, XP_047282037.1:p.Trp346Ter, XP_047282051.1:p.Trp346Ter, XP_047282036.1:p.Trp346Ter, XP_047282056.1:p.Trp346Ter

          5.

          rs1481432804 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            10:60888811 (GRCh38)
            10:62648569 (GRCh37)
            Canonical SPDI:
            NC_000010.11:60888810:G:A
            Gene:
            RHOBTB1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000010.11:g.60888811G>A, NC_000010.10:g.62648569G>A, NM_014836.5:c.857C>T, NM_014836.4:c.857C>T, XM_017017000.3:c.857C>T, XM_017017000.2:c.857C>T, XM_017017000.1:c.857C>T, XM_017017002.3:c.857C>T, XM_017017002.2:c.857C>T, XM_017017002.1:c.857C>T, XM_024448273.2:c.857C>T, XM_024448273.1:c.857C>T, XM_011540428.2:c.857C>T, XM_011540428.1:c.857C>T, NM_001242359.2:c.857C>T, NM_001242359.1:c.857C>T, NM_001350906.2:c.497C>T, NM_001350906.1:c.497C>T, XM_024448270.2:c.857C>T, XM_024448270.1:c.857C>T, NM_001350908.2:c.497C>T, NM_001350908.1:c.497C>T, NM_001350907.2:c.497C>T, NM_001350907.1:c.497C>T, NM_001350903.2:c.857C>T, NM_001350903.1:c.857C>T, NR_024554.2:n.1097C>T, NM_001350909.2:c.497C>T, NM_001350909.1:c.497C>T, XM_024448272.2:c.857C>T, XM_024448272.1:c.857C>T, XM_006718085.2:c.857C>T, XM_006718085.1:c.857C>T, NM_001350902.2:c.857C>T, NM_001350902.1:c.857C>T, NM_001350911.2:c.497C>T, NM_001350911.1:c.497C>T, NM_001350910.2:c.497C>T, NM_001350910.1:c.497C>T, NM_001350904.2:c.857C>T, NM_001350904.1:c.857C>T, XM_024448271.2:c.857C>T, XM_024448271.1:c.857C>T, NM_001350905.2:c.857C>T, NM_001350905.1:c.857C>T, XM_011540425.2:c.857C>T, XM_011540425.1:c.857C>T, XM_011540424.2:c.857C>T, XM_011540424.1:c.857C>T, XM_047426077.1:c.857C>T, XM_047426103.1:c.857C>T, XM_047426102.1:c.857C>T, XM_047426083.1:c.857C>T, XM_047426084.1:c.857C>T, XM_047426105.1:c.857C>T, XM_047426104.1:c.857C>T, XM_047426090.1:c.857C>T, XM_047426097.1:c.857C>T, NR_024556.1:n.1295C>T, XM_047426076.1:c.857C>T, XM_047426078.1:c.857C>T, XM_047426079.1:c.857C>T, XM_047426075.1:c.857C>T, XM_047426082.1:c.857C>T, XM_047426086.1:c.857C>T, XM_047426096.1:c.857C>T, NM_198225.1:c.857C>T, XM_047426089.1:c.857C>T, XM_047426074.1:c.857C>T, XM_047426088.1:c.857C>T, NR_024555.1:n.1061C>T, NM_001032380.1:c.857C>T, XM_047426093.1:c.857C>T, XM_047426094.1:c.857C>T, XM_047426091.1:c.857C>T, XR_007062021.1:n.1137C>T, XR_007062020.1:n.1133C>T, XM_047426099.1:c.857C>T, XM_047426092.1:c.857C>T, XM_047426098.1:c.857C>T, XM_047426087.1:c.857C>T, XM_047426081.1:c.857C>T, XR_007062022.1:n.1133C>T, XM_047426095.1:c.857C>T, XM_047426080.1:c.857C>T, XM_047426100.1:c.857C>T, NP_055651.1:p.Ala286Val, XP_016872489.1:p.Ala286Val, XP_016872491.1:p.Ala286Val, XP_024304041.1:p.Ala286Val, XP_011538730.1:p.Ala286Val, NP_001229288.1:p.Ala286Val, NP_001337835.1:p.Ala166Val, XP_024304038.1:p.Ala286Val, NP_001337837.1:p.Ala166Val, NP_001337836.1:p.Ala166Val, NP_001337832.1:p.Ala286Val, NP_001337838.1:p.Ala166Val, XP_024304040.1:p.Ala286Val, XP_006718148.1:p.Ala286Val, NP_001337831.1:p.Ala286Val, NP_001337840.1:p.Ala166Val, NP_001337839.1:p.Ala166Val, NP_001337833.1:p.Ala286Val, XP_024304039.1:p.Ala286Val, NP_001337834.1:p.Ala286Val, XP_011538727.1:p.Ala286Val, XP_011538726.1:p.Ala286Val, XP_047282033.1:p.Ala286Val, XP_047282059.1:p.Ala286Val, XP_047282058.1:p.Ala286Val, XP_047282039.1:p.Ala286Val, XP_047282040.1:p.Ala286Val, XP_047282061.1:p.Ala286Val, XP_047282060.1:p.Ala286Val, XP_047282046.1:p.Ala286Val, XP_047282053.1:p.Ala286Val, XP_047282032.1:p.Ala286Val, XP_047282034.1:p.Ala286Val, XP_047282035.1:p.Ala286Val, XP_047282031.1:p.Ala286Val, XP_047282038.1:p.Ala286Val, XP_047282042.1:p.Ala286Val, XP_047282052.1:p.Ala286Val, XP_047282045.1:p.Ala286Val, XP_047282030.1:p.Ala286Val, XP_047282044.1:p.Ala286Val, XP_047282049.1:p.Ala286Val, XP_047282050.1:p.Ala286Val, XP_047282047.1:p.Ala286Val, XP_047282055.1:p.Ala286Val, XP_047282048.1:p.Ala286Val, XP_047282054.1:p.Ala286Val, XP_047282043.1:p.Ala286Val, XP_047282037.1:p.Ala286Val, XP_047282051.1:p.Ala286Val, XP_047282036.1:p.Ala286Val, XP_047282056.1:p.Ala286Val

            6.

            rs1477839797 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              10:60889091 (GRCh38)
              10:62648849 (GRCh37)
              Canonical SPDI:
              NC_000010.11:60889090:G:A,NC_000010.11:60889090:G:C
              Gene:
              RHOBTB1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,stop_gained,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              HGVS:
              NC_000010.11:g.60889091G>A, NC_000010.11:g.60889091G>C, NC_000010.10:g.62648849G>A, NC_000010.10:g.62648849G>C, NM_014836.5:c.577C>T, NM_014836.5:c.577C>G, NM_014836.4:c.577C>T, NM_014836.4:c.577C>G, XM_017017000.3:c.577C>T, XM_017017000.3:c.577C>G, XM_017017000.2:c.577C>T, XM_017017000.2:c.577C>G, XM_017017000.1:c.577C>T, XM_017017000.1:c.577C>G, XM_017017002.3:c.577C>T, XM_017017002.3:c.577C>G, XM_017017002.2:c.577C>T, XM_017017002.2:c.577C>G, XM_017017002.1:c.577C>T, XM_017017002.1:c.577C>G, XM_024448273.2:c.577C>T, XM_024448273.2:c.577C>G, XM_024448273.1:c.577C>T, XM_024448273.1:c.577C>G, XM_011540428.2:c.577C>T, XM_011540428.2:c.577C>G, XM_011540428.1:c.577C>T, XM_011540428.1:c.577C>G, NM_001242359.2:c.577C>T, NM_001242359.2:c.577C>G, NM_001242359.1:c.577C>T, NM_001242359.1:c.577C>G, NM_001350906.2:c.217C>T, NM_001350906.2:c.217C>G, NM_001350906.1:c.217C>T, NM_001350906.1:c.217C>G, XM_024448270.2:c.577C>T, XM_024448270.2:c.577C>G, XM_024448270.1:c.577C>T, XM_024448270.1:c.577C>G, NM_001350908.2:c.217C>T, NM_001350908.2:c.217C>G, NM_001350908.1:c.217C>T, NM_001350908.1:c.217C>G, NM_001350907.2:c.217C>T, NM_001350907.2:c.217C>G, NM_001350907.1:c.217C>T, NM_001350907.1:c.217C>G, NM_001350903.2:c.577C>T, NM_001350903.2:c.577C>G, NM_001350903.1:c.577C>T, NM_001350903.1:c.577C>G, NR_024554.2:n.817C>T, NR_024554.2:n.817C>G, NM_001350909.2:c.217C>T, NM_001350909.2:c.217C>G, NM_001350909.1:c.217C>T, NM_001350909.1:c.217C>G, XM_024448272.2:c.577C>T, XM_024448272.2:c.577C>G, XM_024448272.1:c.577C>T, XM_024448272.1:c.577C>G, XM_006718085.2:c.577C>T, XM_006718085.2:c.577C>G, XM_006718085.1:c.577C>T, XM_006718085.1:c.577C>G, NM_001350902.2:c.577C>T, NM_001350902.2:c.577C>G, NM_001350902.1:c.577C>T, NM_001350902.1:c.577C>G, NM_001350911.2:c.217C>T, NM_001350911.2:c.217C>G, NM_001350911.1:c.217C>T, NM_001350911.1:c.217C>G, NM_001350910.2:c.217C>T, NM_001350910.2:c.217C>G, NM_001350910.1:c.217C>T, NM_001350910.1:c.217C>G, NM_001350904.2:c.577C>T, NM_001350904.2:c.577C>G, NM_001350904.1:c.577C>T, NM_001350904.1:c.577C>G, XM_024448271.2:c.577C>T, XM_024448271.2:c.577C>G, XM_024448271.1:c.577C>T, XM_024448271.1:c.577C>G, NM_001350905.2:c.577C>T, NM_001350905.2:c.577C>G, NM_001350905.1:c.577C>T, NM_001350905.1:c.577C>G, XM_011540425.2:c.577C>T, XM_011540425.2:c.577C>G, XM_011540425.1:c.577C>T, XM_011540425.1:c.577C>G, XM_011540424.2:c.577C>T, XM_011540424.2:c.577C>G, XM_011540424.1:c.577C>T, XM_011540424.1:c.577C>G, XM_047426077.1:c.577C>T, XM_047426077.1:c.577C>G, XM_047426103.1:c.577C>T, XM_047426103.1:c.577C>G, XM_047426102.1:c.577C>T, XM_047426102.1:c.577C>G, XM_047426083.1:c.577C>T, XM_047426083.1:c.577C>G, XM_047426084.1:c.577C>T, XM_047426084.1:c.577C>G, XM_047426105.1:c.577C>T, XM_047426105.1:c.577C>G, XM_047426104.1:c.577C>T, XM_047426104.1:c.577C>G, XM_047426090.1:c.577C>T, XM_047426090.1:c.577C>G, XM_047426097.1:c.577C>T, XM_047426097.1:c.577C>G, NR_024556.1:n.1015C>T, NR_024556.1:n.1015C>G, XM_047426076.1:c.577C>T, XM_047426076.1:c.577C>G, XM_047426078.1:c.577C>T, XM_047426078.1:c.577C>G, XM_047426079.1:c.577C>T, XM_047426079.1:c.577C>G, XM_047426075.1:c.577C>T, XM_047426075.1:c.577C>G, XM_047426082.1:c.577C>T, XM_047426082.1:c.577C>G, XM_047426086.1:c.577C>T, XM_047426086.1:c.577C>G, XM_047426096.1:c.577C>T, XM_047426096.1:c.577C>G, NM_198225.1:c.577C>T, NM_198225.1:c.577C>G, XM_047426089.1:c.577C>T, XM_047426089.1:c.577C>G, XM_047426074.1:c.577C>T, XM_047426074.1:c.577C>G, XM_047426088.1:c.577C>T, XM_047426088.1:c.577C>G, NR_024555.1:n.781C>T, NR_024555.1:n.781C>G, NM_001032380.1:c.577C>T, NM_001032380.1:c.577C>G, XM_047426093.1:c.577C>T, XM_047426093.1:c.577C>G, XM_047426094.1:c.577C>T, XM_047426094.1:c.577C>G, XM_047426091.1:c.577C>T, XM_047426091.1:c.577C>G, XR_007062021.1:n.857C>T, XR_007062021.1:n.857C>G, XR_007062020.1:n.853C>T, XR_007062020.1:n.853C>G, XM_047426099.1:c.577C>T, XM_047426099.1:c.577C>G, XM_047426092.1:c.577C>T, XM_047426092.1:c.577C>G, XM_047426098.1:c.577C>T, XM_047426098.1:c.577C>G, XM_047426087.1:c.577C>T, XM_047426087.1:c.577C>G, XM_047426081.1:c.577C>T, XM_047426081.1:c.577C>G, XR_007062022.1:n.853C>T, XR_007062022.1:n.853C>G, XM_047426095.1:c.577C>T, XM_047426095.1:c.577C>G, XM_047426080.1:c.577C>T, XM_047426080.1:c.577C>G, XM_047426100.1:c.577C>T, XM_047426100.1:c.577C>G, NP_055651.1:p.Gln193Ter, NP_055651.1:p.Gln193Glu, XP_016872489.1:p.Gln193Ter, XP_016872489.1:p.Gln193Glu, XP_016872491.1:p.Gln193Ter, XP_016872491.1:p.Gln193Glu, XP_024304041.1:p.Gln193Ter, XP_024304041.1:p.Gln193Glu, XP_011538730.1:p.Gln193Ter, XP_011538730.1:p.Gln193Glu, NP_001229288.1:p.Gln193Ter, NP_001229288.1:p.Gln193Glu, NP_001337835.1:p.Gln73Ter, NP_001337835.1:p.Gln73Glu, XP_024304038.1:p.Gln193Ter, XP_024304038.1:p.Gln193Glu, NP_001337837.1:p.Gln73Ter, NP_001337837.1:p.Gln73Glu, NP_001337836.1:p.Gln73Ter, NP_001337836.1:p.Gln73Glu, NP_001337832.1:p.Gln193Ter, NP_001337832.1:p.Gln193Glu, NP_001337838.1:p.Gln73Ter, NP_001337838.1:p.Gln73Glu, XP_024304040.1:p.Gln193Ter, XP_024304040.1:p.Gln193Glu, XP_006718148.1:p.Gln193Ter, XP_006718148.1:p.Gln193Glu, NP_001337831.1:p.Gln193Ter, NP_001337831.1:p.Gln193Glu, NP_001337840.1:p.Gln73Ter, NP_001337840.1:p.Gln73Glu, NP_001337839.1:p.Gln73Ter, NP_001337839.1:p.Gln73Glu, NP_001337833.1:p.Gln193Ter, NP_001337833.1:p.Gln193Glu, XP_024304039.1:p.Gln193Ter, XP_024304039.1:p.Gln193Glu, NP_001337834.1:p.Gln193Ter, NP_001337834.1:p.Gln193Glu, XP_011538727.1:p.Gln193Ter, XP_011538727.1:p.Gln193Glu, XP_011538726.1:p.Gln193Ter, XP_011538726.1:p.Gln193Glu, XP_047282033.1:p.Gln193Ter, XP_047282033.1:p.Gln193Glu, XP_047282059.1:p.Gln193Ter, XP_047282059.1:p.Gln193Glu, XP_047282058.1:p.Gln193Ter, XP_047282058.1:p.Gln193Glu, XP_047282039.1:p.Gln193Ter, XP_047282039.1:p.Gln193Glu, XP_047282040.1:p.Gln193Ter, XP_047282040.1:p.Gln193Glu, XP_047282061.1:p.Gln193Ter, XP_047282061.1:p.Gln193Glu, XP_047282060.1:p.Gln193Ter, XP_047282060.1:p.Gln193Glu, XP_047282046.1:p.Gln193Ter, XP_047282046.1:p.Gln193Glu, XP_047282053.1:p.Gln193Ter, XP_047282053.1:p.Gln193Glu, XP_047282032.1:p.Gln193Ter, XP_047282032.1:p.Gln193Glu, XP_047282034.1:p.Gln193Ter, XP_047282034.1:p.Gln193Glu, XP_047282035.1:p.Gln193Ter, XP_047282035.1:p.Gln193Glu, XP_047282031.1:p.Gln193Ter, XP_047282031.1:p.Gln193Glu, XP_047282038.1:p.Gln193Ter, XP_047282038.1:p.Gln193Glu, XP_047282042.1:p.Gln193Ter, XP_047282042.1:p.Gln193Glu, XP_047282052.1:p.Gln193Ter, XP_047282052.1:p.Gln193Glu, XP_047282045.1:p.Gln193Ter, XP_047282045.1:p.Gln193Glu, XP_047282030.1:p.Gln193Ter, XP_047282030.1:p.Gln193Glu, XP_047282044.1:p.Gln193Ter, XP_047282044.1:p.Gln193Glu, XP_047282049.1:p.Gln193Ter, XP_047282049.1:p.Gln193Glu, XP_047282050.1:p.Gln193Ter, XP_047282050.1:p.Gln193Glu, XP_047282047.1:p.Gln193Ter, XP_047282047.1:p.Gln193Glu, XP_047282055.1:p.Gln193Ter, XP_047282055.1:p.Gln193Glu, XP_047282048.1:p.Gln193Ter, XP_047282048.1:p.Gln193Glu, XP_047282054.1:p.Gln193Ter, XP_047282054.1:p.Gln193Glu, XP_047282043.1:p.Gln193Ter, XP_047282043.1:p.Gln193Glu, XP_047282037.1:p.Gln193Ter, XP_047282037.1:p.Gln193Glu, XP_047282051.1:p.Gln193Ter, XP_047282051.1:p.Gln193Glu, XP_047282036.1:p.Gln193Ter, XP_047282036.1:p.Gln193Glu, XP_047282056.1:p.Gln193Ter, XP_047282056.1:p.Gln193Glu

              7.

              rs1476144307 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                10:60888483 (GRCh38)
                10:62648241 (GRCh37)
                Canonical SPDI:
                NC_000010.11:60888482:C:T
                Gene:
                RHOBTB1 (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 (GnomAD_exomes)
                T=0.000008/2 (TOPMED)
                HGVS:
                NC_000010.11:g.60888483C>T, NC_000010.10:g.62648241C>T, NM_014836.5:c.1185G>A, NM_014836.4:c.1185G>A, XM_017017000.3:c.1185G>A, XM_017017000.2:c.1185G>A, XM_017017000.1:c.1185G>A, XM_017017002.3:c.1185G>A, XM_017017002.2:c.1185G>A, XM_017017002.1:c.1185G>A, XM_024448273.2:c.1185G>A, XM_024448273.1:c.1185G>A, XM_011540428.2:c.1185G>A, XM_011540428.1:c.1185G>A, NM_001242359.2:c.1185G>A, NM_001242359.1:c.1185G>A, NM_001350906.2:c.825G>A, NM_001350906.1:c.825G>A, XM_024448270.2:c.1185G>A, XM_024448270.1:c.1185G>A, NM_001350908.2:c.825G>A, NM_001350908.1:c.825G>A, NM_001350907.2:c.825G>A, NM_001350907.1:c.825G>A, NM_001350903.2:c.1185G>A, NM_001350903.1:c.1185G>A, NR_024554.2:n.1425G>A, NM_001350909.2:c.825G>A, NM_001350909.1:c.825G>A, XM_024448272.2:c.1185G>A, XM_024448272.1:c.1185G>A, XM_006718085.2:c.1185G>A, XM_006718085.1:c.1185G>A, NM_001350902.2:c.1185G>A, NM_001350902.1:c.1185G>A, NM_001350911.2:c.825G>A, NM_001350911.1:c.825G>A, NM_001350910.2:c.825G>A, NM_001350910.1:c.825G>A, NM_001350904.2:c.1185G>A, NM_001350904.1:c.1185G>A, XM_024448271.2:c.1185G>A, XM_024448271.1:c.1185G>A, NM_001350905.2:c.1185G>A, NM_001350905.1:c.1185G>A, XM_011540425.2:c.1185G>A, XM_011540425.1:c.1185G>A, XM_011540424.2:c.1185G>A, XM_011540424.1:c.1185G>A, XM_047426077.1:c.1185G>A, XM_047426103.1:c.1185G>A, XM_047426102.1:c.1185G>A, XM_047426083.1:c.1185G>A, XM_047426084.1:c.1185G>A, XM_047426105.1:c.1185G>A, XM_047426104.1:c.1185G>A, XM_047426090.1:c.1185G>A, XM_047426097.1:c.1185G>A, NR_024556.1:n.1623G>A, XM_047426076.1:c.1185G>A, XM_047426078.1:c.1185G>A, XM_047426079.1:c.1185G>A, XM_047426075.1:c.1185G>A, XM_047426082.1:c.1185G>A, XM_047426086.1:c.1185G>A, XM_047426096.1:c.1185G>A, NM_198225.1:c.1185G>A, XM_047426089.1:c.1185G>A, XM_047426074.1:c.1185G>A, XM_047426088.1:c.1185G>A, NR_024555.1:n.1389G>A, NM_001032380.1:c.1185G>A, XM_047426093.1:c.1185G>A, XM_047426094.1:c.1185G>A, XM_047426091.1:c.1185G>A, XR_007062021.1:n.1465G>A, XR_007062020.1:n.1461G>A, XM_047426099.1:c.1185G>A, XM_047426092.1:c.1185G>A, XM_047426098.1:c.1185G>A, XM_047426087.1:c.1185G>A, XM_047426081.1:c.1185G>A, XR_007062022.1:n.1461G>A, XM_047426095.1:c.1185G>A, XM_047426080.1:c.1185G>A, XM_047426100.1:c.1185G>A

                8.

                rs1473436662 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  10:60888922 (GRCh38)
                  10:62648680 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:60888921:G:A
                  Gene:
                  RHOBTB1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000010.11:g.60888922G>A, NC_000010.10:g.62648680G>A, NM_014836.5:c.746C>T, NM_014836.4:c.746C>T, XM_017017000.3:c.746C>T, XM_017017000.2:c.746C>T, XM_017017000.1:c.746C>T, XM_017017002.3:c.746C>T, XM_017017002.2:c.746C>T, XM_017017002.1:c.746C>T, XM_024448273.2:c.746C>T, XM_024448273.1:c.746C>T, XM_011540428.2:c.746C>T, XM_011540428.1:c.746C>T, NM_001242359.2:c.746C>T, NM_001242359.1:c.746C>T, NM_001350906.2:c.386C>T, NM_001350906.1:c.386C>T, XM_024448270.2:c.746C>T, XM_024448270.1:c.746C>T, NM_001350908.2:c.386C>T, NM_001350908.1:c.386C>T, NM_001350907.2:c.386C>T, NM_001350907.1:c.386C>T, NM_001350903.2:c.746C>T, NM_001350903.1:c.746C>T, NR_024554.2:n.986C>T, NM_001350909.2:c.386C>T, NM_001350909.1:c.386C>T, XM_024448272.2:c.746C>T, XM_024448272.1:c.746C>T, XM_006718085.2:c.746C>T, XM_006718085.1:c.746C>T, NM_001350902.2:c.746C>T, NM_001350902.1:c.746C>T, NM_001350911.2:c.386C>T, NM_001350911.1:c.386C>T, NM_001350910.2:c.386C>T, NM_001350910.1:c.386C>T, NM_001350904.2:c.746C>T, NM_001350904.1:c.746C>T, XM_024448271.2:c.746C>T, XM_024448271.1:c.746C>T, NM_001350905.2:c.746C>T, NM_001350905.1:c.746C>T, XM_011540425.2:c.746C>T, XM_011540425.1:c.746C>T, XM_011540424.2:c.746C>T, XM_011540424.1:c.746C>T, XM_047426077.1:c.746C>T, XM_047426103.1:c.746C>T, XM_047426102.1:c.746C>T, XM_047426083.1:c.746C>T, XM_047426084.1:c.746C>T, XM_047426105.1:c.746C>T, XM_047426104.1:c.746C>T, XM_047426090.1:c.746C>T, XM_047426097.1:c.746C>T, NR_024556.1:n.1184C>T, XM_047426076.1:c.746C>T, XM_047426078.1:c.746C>T, XM_047426079.1:c.746C>T, XM_047426075.1:c.746C>T, XM_047426082.1:c.746C>T, XM_047426086.1:c.746C>T, XM_047426096.1:c.746C>T, NM_198225.1:c.746C>T, XM_047426089.1:c.746C>T, XM_047426074.1:c.746C>T, XM_047426088.1:c.746C>T, NR_024555.1:n.950C>T, NM_001032380.1:c.746C>T, XM_047426093.1:c.746C>T, XM_047426094.1:c.746C>T, XM_047426091.1:c.746C>T, XR_007062021.1:n.1026C>T, XR_007062020.1:n.1022C>T, XM_047426099.1:c.746C>T, XM_047426092.1:c.746C>T, XM_047426098.1:c.746C>T, XM_047426087.1:c.746C>T, XM_047426081.1:c.746C>T, XR_007062022.1:n.1022C>T, XM_047426095.1:c.746C>T, XM_047426080.1:c.746C>T, XM_047426100.1:c.746C>T, NP_055651.1:p.Pro249Leu, XP_016872489.1:p.Pro249Leu, XP_016872491.1:p.Pro249Leu, XP_024304041.1:p.Pro249Leu, XP_011538730.1:p.Pro249Leu, NP_001229288.1:p.Pro249Leu, NP_001337835.1:p.Pro129Leu, XP_024304038.1:p.Pro249Leu, NP_001337837.1:p.Pro129Leu, NP_001337836.1:p.Pro129Leu, NP_001337832.1:p.Pro249Leu, NP_001337838.1:p.Pro129Leu, XP_024304040.1:p.Pro249Leu, XP_006718148.1:p.Pro249Leu, NP_001337831.1:p.Pro249Leu, NP_001337840.1:p.Pro129Leu, NP_001337839.1:p.Pro129Leu, NP_001337833.1:p.Pro249Leu, XP_024304039.1:p.Pro249Leu, NP_001337834.1:p.Pro249Leu, XP_011538727.1:p.Pro249Leu, XP_011538726.1:p.Pro249Leu, XP_047282033.1:p.Pro249Leu, XP_047282059.1:p.Pro249Leu, XP_047282058.1:p.Pro249Leu, XP_047282039.1:p.Pro249Leu, XP_047282040.1:p.Pro249Leu, XP_047282061.1:p.Pro249Leu, XP_047282060.1:p.Pro249Leu, XP_047282046.1:p.Pro249Leu, XP_047282053.1:p.Pro249Leu, XP_047282032.1:p.Pro249Leu, XP_047282034.1:p.Pro249Leu, XP_047282035.1:p.Pro249Leu, XP_047282031.1:p.Pro249Leu, XP_047282038.1:p.Pro249Leu, XP_047282042.1:p.Pro249Leu, XP_047282052.1:p.Pro249Leu, XP_047282045.1:p.Pro249Leu, XP_047282030.1:p.Pro249Leu, XP_047282044.1:p.Pro249Leu, XP_047282049.1:p.Pro249Leu, XP_047282050.1:p.Pro249Leu, XP_047282047.1:p.Pro249Leu, XP_047282055.1:p.Pro249Leu, XP_047282048.1:p.Pro249Leu, XP_047282054.1:p.Pro249Leu, XP_047282043.1:p.Pro249Leu, XP_047282037.1:p.Pro249Leu, XP_047282051.1:p.Pro249Leu, XP_047282036.1:p.Pro249Leu, XP_047282056.1:p.Pro249Leu

                  9.

                  rs1472549007 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    10:60888821 (GRCh38)
                    10:62648579 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:60888820:T:C
                    Gene:
                    RHOBTB1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000010.11:g.60888821T>C, NC_000010.10:g.62648579T>C, NM_014836.5:c.847A>G, NM_014836.4:c.847A>G, XM_017017000.3:c.847A>G, XM_017017000.2:c.847A>G, XM_017017000.1:c.847A>G, XM_017017002.3:c.847A>G, XM_017017002.2:c.847A>G, XM_017017002.1:c.847A>G, XM_024448273.2:c.847A>G, XM_024448273.1:c.847A>G, XM_011540428.2:c.847A>G, XM_011540428.1:c.847A>G, NM_001242359.2:c.847A>G, NM_001242359.1:c.847A>G, NM_001350906.2:c.487A>G, NM_001350906.1:c.487A>G, XM_024448270.2:c.847A>G, XM_024448270.1:c.847A>G, NM_001350908.2:c.487A>G, NM_001350908.1:c.487A>G, NM_001350907.2:c.487A>G, NM_001350907.1:c.487A>G, NM_001350903.2:c.847A>G, NM_001350903.1:c.847A>G, NR_024554.2:n.1087A>G, NM_001350909.2:c.487A>G, NM_001350909.1:c.487A>G, XM_024448272.2:c.847A>G, XM_024448272.1:c.847A>G, XM_006718085.2:c.847A>G, XM_006718085.1:c.847A>G, NM_001350902.2:c.847A>G, NM_001350902.1:c.847A>G, NM_001350911.2:c.487A>G, NM_001350911.1:c.487A>G, NM_001350910.2:c.487A>G, NM_001350910.1:c.487A>G, NM_001350904.2:c.847A>G, NM_001350904.1:c.847A>G, XM_024448271.2:c.847A>G, XM_024448271.1:c.847A>G, NM_001350905.2:c.847A>G, NM_001350905.1:c.847A>G, XM_011540425.2:c.847A>G, XM_011540425.1:c.847A>G, XM_011540424.2:c.847A>G, XM_011540424.1:c.847A>G, XM_047426077.1:c.847A>G, XM_047426103.1:c.847A>G, XM_047426102.1:c.847A>G, XM_047426083.1:c.847A>G, XM_047426084.1:c.847A>G, XM_047426105.1:c.847A>G, XM_047426104.1:c.847A>G, XM_047426090.1:c.847A>G, XM_047426097.1:c.847A>G, NR_024556.1:n.1285A>G, XM_047426076.1:c.847A>G, XM_047426078.1:c.847A>G, XM_047426079.1:c.847A>G, XM_047426075.1:c.847A>G, XM_047426082.1:c.847A>G, XM_047426086.1:c.847A>G, XM_047426096.1:c.847A>G, NM_198225.1:c.847A>G, XM_047426089.1:c.847A>G, XM_047426074.1:c.847A>G, XM_047426088.1:c.847A>G, NR_024555.1:n.1051A>G, NM_001032380.1:c.847A>G, XM_047426093.1:c.847A>G, XM_047426094.1:c.847A>G, XM_047426091.1:c.847A>G, XR_007062021.1:n.1127A>G, XR_007062020.1:n.1123A>G, XM_047426099.1:c.847A>G, XM_047426092.1:c.847A>G, XM_047426098.1:c.847A>G, XM_047426087.1:c.847A>G, XM_047426081.1:c.847A>G, XR_007062022.1:n.1123A>G, XM_047426095.1:c.847A>G, XM_047426080.1:c.847A>G, XM_047426100.1:c.847A>G, NP_055651.1:p.Ile283Val, XP_016872489.1:p.Ile283Val, XP_016872491.1:p.Ile283Val, XP_024304041.1:p.Ile283Val, XP_011538730.1:p.Ile283Val, NP_001229288.1:p.Ile283Val, NP_001337835.1:p.Ile163Val, XP_024304038.1:p.Ile283Val, NP_001337837.1:p.Ile163Val, NP_001337836.1:p.Ile163Val, NP_001337832.1:p.Ile283Val, NP_001337838.1:p.Ile163Val, XP_024304040.1:p.Ile283Val, XP_006718148.1:p.Ile283Val, NP_001337831.1:p.Ile283Val, NP_001337840.1:p.Ile163Val, NP_001337839.1:p.Ile163Val, NP_001337833.1:p.Ile283Val, XP_024304039.1:p.Ile283Val, NP_001337834.1:p.Ile283Val, XP_011538727.1:p.Ile283Val, XP_011538726.1:p.Ile283Val, XP_047282033.1:p.Ile283Val, XP_047282059.1:p.Ile283Val, XP_047282058.1:p.Ile283Val, XP_047282039.1:p.Ile283Val, XP_047282040.1:p.Ile283Val, XP_047282061.1:p.Ile283Val, XP_047282060.1:p.Ile283Val, XP_047282046.1:p.Ile283Val, XP_047282053.1:p.Ile283Val, XP_047282032.1:p.Ile283Val, XP_047282034.1:p.Ile283Val, XP_047282035.1:p.Ile283Val, XP_047282031.1:p.Ile283Val, XP_047282038.1:p.Ile283Val, XP_047282042.1:p.Ile283Val, XP_047282052.1:p.Ile283Val, XP_047282045.1:p.Ile283Val, XP_047282030.1:p.Ile283Val, XP_047282044.1:p.Ile283Val, XP_047282049.1:p.Ile283Val, XP_047282050.1:p.Ile283Val, XP_047282047.1:p.Ile283Val, XP_047282055.1:p.Ile283Val, XP_047282048.1:p.Ile283Val, XP_047282054.1:p.Ile283Val, XP_047282043.1:p.Ile283Val, XP_047282037.1:p.Ile283Val, XP_047282051.1:p.Ile283Val, XP_047282036.1:p.Ile283Val, XP_047282056.1:p.Ile283Val

                    10.

                    rs1471856560 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      10:60892923 (GRCh38)
                      10:62652681 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:60892922:A:G
                      Gene:
                      RHOBTB1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0.000071/1 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000010.11:g.60892923A>G, NC_000010.10:g.62652681A>G, NM_014836.5:c.369T>C, NM_014836.4:c.369T>C, XM_017017000.3:c.369T>C, XM_017017000.2:c.369T>C, XM_017017000.1:c.369T>C, XM_017017002.3:c.369T>C, XM_017017002.2:c.369T>C, XM_017017002.1:c.369T>C, XM_024448273.2:c.369T>C, XM_024448273.1:c.369T>C, XM_011540428.2:c.369T>C, XM_011540428.1:c.369T>C, NM_001242359.2:c.369T>C, NM_001242359.1:c.369T>C, NM_001350906.2:c.9T>C, NM_001350906.1:c.9T>C, XM_024448270.2:c.369T>C, XM_024448270.1:c.369T>C, NM_001350908.2:c.9T>C, NM_001350908.1:c.9T>C, NM_001350907.2:c.9T>C, NM_001350907.1:c.9T>C, NM_001350903.2:c.369T>C, NM_001350903.1:c.369T>C, NR_024554.2:n.609T>C, NM_001350909.2:c.9T>C, NM_001350909.1:c.9T>C, XM_024448272.2:c.369T>C, XM_024448272.1:c.369T>C, XM_006718085.2:c.369T>C, XM_006718085.1:c.369T>C, NM_001350902.2:c.369T>C, NM_001350902.1:c.369T>C, NM_001350911.2:c.9T>C, NM_001350911.1:c.9T>C, NM_001350910.2:c.9T>C, NM_001350910.1:c.9T>C, NM_001350904.2:c.369T>C, NM_001350904.1:c.369T>C, XM_024448271.2:c.369T>C, XM_024448271.1:c.369T>C, NM_001350905.2:c.369T>C, NM_001350905.1:c.369T>C, XM_011540425.2:c.369T>C, XM_011540425.1:c.369T>C, XM_011540424.2:c.369T>C, XM_011540424.1:c.369T>C, XM_047426077.1:c.369T>C, XM_047426103.1:c.369T>C, XM_047426102.1:c.369T>C, XM_047426083.1:c.369T>C, XM_047426084.1:c.369T>C, XM_047426105.1:c.369T>C, XM_047426104.1:c.369T>C, XM_047426090.1:c.369T>C, XM_047426097.1:c.369T>C, NR_024556.1:n.807T>C, XM_047426076.1:c.369T>C, XM_047426078.1:c.369T>C, XM_047426079.1:c.369T>C, XM_047426075.1:c.369T>C, XM_047426082.1:c.369T>C, XM_047426086.1:c.369T>C, XM_047426096.1:c.369T>C, NM_198225.1:c.369T>C, XM_047426089.1:c.369T>C, XM_047426074.1:c.369T>C, XM_047426088.1:c.369T>C, NR_024555.1:n.573T>C, NM_001032380.1:c.369T>C, XM_047426093.1:c.369T>C, XM_047426094.1:c.369T>C, XM_047426091.1:c.369T>C, XR_007062021.1:n.649T>C, XR_007062020.1:n.645T>C, XM_047426099.1:c.369T>C, XM_047426092.1:c.369T>C, XM_047426098.1:c.369T>C, XM_047426087.1:c.369T>C, XM_047426081.1:c.369T>C, XR_007062022.1:n.645T>C, XM_047426095.1:c.369T>C, XM_047426080.1:c.369T>C, XM_047426100.1:c.369T>C

                      11.

                      rs1471014241 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        10:60874992 (GRCh38)
                        10:62634750 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:60874991:T:C
                        Gene:
                        RHOBTB1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        HGVS:
                        NC_000010.11:g.60874992T>C, NC_000010.10:g.62634750T>C, NM_014836.5:c.1777A>G, NM_014836.4:c.1777A>G, XM_017017000.3:c.1777A>G, XM_017017000.2:c.1777A>G, XM_017017000.1:c.1777A>G, XM_017017002.3:c.1777A>G, XM_017017002.2:c.1777A>G, XM_017017002.1:c.1777A>G, XM_024448273.2:c.1777A>G, XM_024448273.1:c.1777A>G, NM_001242359.2:c.1777A>G, NM_001242359.1:c.1777A>G, NM_001350906.2:c.1417A>G, NM_001350906.1:c.1417A>G, XM_024448270.2:c.1777A>G, XM_024448270.1:c.1777A>G, NM_001350908.2:c.1417A>G, NM_001350908.1:c.1417A>G, NM_001350907.2:c.1417A>G, NM_001350907.1:c.1417A>G, NM_001350903.2:c.1777A>G, NM_001350903.1:c.1777A>G, NR_024554.2:n.2017A>G, NM_001350909.2:c.1417A>G, NM_001350909.1:c.1417A>G, XM_024448272.2:c.1777A>G, XM_024448272.1:c.1777A>G, XM_006718085.2:c.1777A>G, XM_006718085.1:c.1777A>G, NM_001350902.2:c.1777A>G, NM_001350902.1:c.1777A>G, NM_001350911.2:c.1417A>G, NM_001350911.1:c.1417A>G, NM_001350910.2:c.1417A>G, NM_001350910.1:c.1417A>G, NM_001350904.2:c.1777A>G, NM_001350904.1:c.1777A>G, XM_024448271.2:c.1777A>G, XM_024448271.1:c.1777A>G, NM_001350905.2:c.1777A>G, NM_001350905.1:c.1777A>G, XM_011540425.2:c.1777A>G, XM_011540425.1:c.1777A>G, XM_011540424.2:c.1777A>G, XM_011540424.1:c.1777A>G, XM_047426077.1:c.1777A>G, XM_047426083.1:c.1777A>G, XM_047426084.1:c.1777A>G, XM_047426090.1:c.1777A>G, XM_047426097.1:c.1777A>G, NR_024556.1:n.2215A>G, XM_047426076.1:c.1777A>G, XM_047426078.1:c.1777A>G, XM_047426079.1:c.1777A>G, XM_047426075.1:c.1777A>G, XM_047426082.1:c.1777A>G, XM_047426086.1:c.1777A>G, XM_047426096.1:c.1777A>G, NM_198225.1:c.1777A>G, XM_047426089.1:c.1777A>G, XM_047426074.1:c.1777A>G, XM_047426088.1:c.1777A>G, NR_024555.1:n.1981A>G, NM_001032380.1:c.1777A>G, XM_047426093.1:c.1777A>G, XM_047426094.1:c.1777A>G, XM_047426091.1:c.1777A>G, XR_007062021.1:n.2057A>G, XR_007062020.1:n.2053A>G, XM_047426099.1:c.1777A>G, XM_047426092.1:c.1777A>G, XM_047426098.1:c.1777A>G, XM_047426087.1:c.1777A>G, XM_047426081.1:c.1777A>G, XR_007062022.1:n.2053A>G, XM_047426095.1:c.1777A>G, XM_047426080.1:c.1777A>G, NP_055651.1:p.Ile593Val, XP_016872489.1:p.Ile593Val, XP_016872491.1:p.Ile593Val, XP_024304041.1:p.Ile593Val, NP_001229288.1:p.Ile593Val, NP_001337835.1:p.Ile473Val, XP_024304038.1:p.Ile593Val, NP_001337837.1:p.Ile473Val, NP_001337836.1:p.Ile473Val, NP_001337832.1:p.Ile593Val, NP_001337838.1:p.Ile473Val, XP_024304040.1:p.Ile593Val, XP_006718148.1:p.Ile593Val, NP_001337831.1:p.Ile593Val, NP_001337840.1:p.Ile473Val, NP_001337839.1:p.Ile473Val, NP_001337833.1:p.Ile593Val, XP_024304039.1:p.Ile593Val, NP_001337834.1:p.Ile593Val, XP_011538727.1:p.Ile593Val, XP_011538726.1:p.Ile593Val, XP_047282033.1:p.Ile593Val, XP_047282039.1:p.Ile593Val, XP_047282040.1:p.Ile593Val, XP_047282046.1:p.Ile593Val, XP_047282053.1:p.Ile593Val, XP_047282032.1:p.Ile593Val, XP_047282034.1:p.Ile593Val, XP_047282035.1:p.Ile593Val, XP_047282031.1:p.Ile593Val, XP_047282038.1:p.Ile593Val, XP_047282042.1:p.Ile593Val, XP_047282052.1:p.Ile593Val, XP_047282045.1:p.Ile593Val, XP_047282030.1:p.Ile593Val, XP_047282044.1:p.Ile593Val, XP_047282049.1:p.Ile593Val, XP_047282050.1:p.Ile593Val, XP_047282047.1:p.Ile593Val, XP_047282055.1:p.Ile593Val, XP_047282048.1:p.Ile593Val, XP_047282054.1:p.Ile593Val, XP_047282043.1:p.Ile593Val, XP_047282037.1:p.Ile593Val, XP_047282051.1:p.Ile593Val, XP_047282036.1:p.Ile593Val

                        12.

                        rs1470358347 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          10:60888407 (GRCh38)
                          10:62648165 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:60888406:C:T
                          Gene:
                          RHOBTB1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000010.11:g.60888407C>T, NC_000010.10:g.62648165C>T, NM_014836.5:c.1261G>A, NM_014836.4:c.1261G>A, XM_017017000.3:c.1261G>A, XM_017017000.2:c.1261G>A, XM_017017000.1:c.1261G>A, XM_017017002.3:c.1261G>A, XM_017017002.2:c.1261G>A, XM_017017002.1:c.1261G>A, XM_024448273.2:c.1261G>A, XM_024448273.1:c.1261G>A, XM_011540428.2:c.1261G>A, XM_011540428.1:c.1261G>A, NM_001242359.2:c.1261G>A, NM_001242359.1:c.1261G>A, NM_001350906.2:c.901G>A, NM_001350906.1:c.901G>A, XM_024448270.2:c.1261G>A, XM_024448270.1:c.1261G>A, NM_001350908.2:c.901G>A, NM_001350908.1:c.901G>A, NM_001350907.2:c.901G>A, NM_001350907.1:c.901G>A, NM_001350903.2:c.1261G>A, NM_001350903.1:c.1261G>A, NR_024554.2:n.1501G>A, NM_001350909.2:c.901G>A, NM_001350909.1:c.901G>A, XM_024448272.2:c.1261G>A, XM_024448272.1:c.1261G>A, XM_006718085.2:c.1261G>A, XM_006718085.1:c.1261G>A, NM_001350902.2:c.1261G>A, NM_001350902.1:c.1261G>A, NM_001350911.2:c.901G>A, NM_001350911.1:c.901G>A, NM_001350910.2:c.901G>A, NM_001350910.1:c.901G>A, NM_001350904.2:c.1261G>A, NM_001350904.1:c.1261G>A, XM_024448271.2:c.1261G>A, XM_024448271.1:c.1261G>A, NM_001350905.2:c.1261G>A, NM_001350905.1:c.1261G>A, XM_011540425.2:c.1261G>A, XM_011540425.1:c.1261G>A, XM_011540424.2:c.1261G>A, XM_011540424.1:c.1261G>A, XM_047426077.1:c.1261G>A, XM_047426103.1:c.1261G>A, XM_047426102.1:c.1261G>A, XM_047426083.1:c.1261G>A, XM_047426084.1:c.1261G>A, XM_047426105.1:c.1261G>A, XM_047426104.1:c.1261G>A, XM_047426090.1:c.1261G>A, XM_047426097.1:c.1261G>A, NR_024556.1:n.1699G>A, XM_047426076.1:c.1261G>A, XM_047426078.1:c.1261G>A, XM_047426079.1:c.1261G>A, XM_047426075.1:c.1261G>A, XM_047426082.1:c.1261G>A, XM_047426086.1:c.1261G>A, XM_047426096.1:c.1261G>A, NM_198225.1:c.1261G>A, XM_047426089.1:c.1261G>A, XM_047426074.1:c.1261G>A, XM_047426088.1:c.1261G>A, NR_024555.1:n.1465G>A, NM_001032380.1:c.1261G>A, XM_047426093.1:c.1261G>A, XM_047426094.1:c.1261G>A, XM_047426091.1:c.1261G>A, XR_007062021.1:n.1541G>A, XR_007062020.1:n.1537G>A, XM_047426099.1:c.1261G>A, XM_047426092.1:c.1261G>A, XM_047426098.1:c.1261G>A, XM_047426087.1:c.1261G>A, XM_047426081.1:c.1261G>A, XR_007062022.1:n.1537G>A, XM_047426095.1:c.1261G>A, XM_047426080.1:c.1261G>A, XM_047426100.1:c.1261G>A, NP_055651.1:p.Gly421Arg, XP_016872489.1:p.Gly421Arg, XP_016872491.1:p.Gly421Arg, XP_024304041.1:p.Gly421Arg, XP_011538730.1:p.Gly421Arg, NP_001229288.1:p.Gly421Arg, NP_001337835.1:p.Gly301Arg, XP_024304038.1:p.Gly421Arg, NP_001337837.1:p.Gly301Arg, NP_001337836.1:p.Gly301Arg, NP_001337832.1:p.Gly421Arg, NP_001337838.1:p.Gly301Arg, XP_024304040.1:p.Gly421Arg, XP_006718148.1:p.Gly421Arg, NP_001337831.1:p.Gly421Arg, NP_001337840.1:p.Gly301Arg, NP_001337839.1:p.Gly301Arg, NP_001337833.1:p.Gly421Arg, XP_024304039.1:p.Gly421Arg, NP_001337834.1:p.Gly421Arg, XP_011538727.1:p.Gly421Arg, XP_011538726.1:p.Gly421Arg, XP_047282033.1:p.Gly421Arg, XP_047282059.1:p.Gly421Arg, XP_047282058.1:p.Gly421Arg, XP_047282039.1:p.Gly421Arg, XP_047282040.1:p.Gly421Arg, XP_047282061.1:p.Gly421Arg, XP_047282060.1:p.Gly421Arg, XP_047282046.1:p.Gly421Arg, XP_047282053.1:p.Gly421Arg, XP_047282032.1:p.Gly421Arg, XP_047282034.1:p.Gly421Arg, XP_047282035.1:p.Gly421Arg, XP_047282031.1:p.Gly421Arg, XP_047282038.1:p.Gly421Arg, XP_047282042.1:p.Gly421Arg, XP_047282052.1:p.Gly421Arg, XP_047282045.1:p.Gly421Arg, XP_047282030.1:p.Gly421Arg, XP_047282044.1:p.Gly421Arg, XP_047282049.1:p.Gly421Arg, XP_047282050.1:p.Gly421Arg, XP_047282047.1:p.Gly421Arg, XP_047282055.1:p.Gly421Arg, XP_047282048.1:p.Gly421Arg, XP_047282054.1:p.Gly421Arg, XP_047282043.1:p.Gly421Arg, XP_047282037.1:p.Gly421Arg, XP_047282051.1:p.Gly421Arg, XP_047282036.1:p.Gly421Arg, XP_047282056.1:p.Gly421Arg

                          13.

                          rs1468669689 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            10:60888511 (GRCh38)
                            10:62648269 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:60888510:T:G
                            Gene:
                            RHOBTB1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,non_coding_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000011/3 (TOPMED)
                            HGVS:
                            NC_000010.11:g.60888511T>G, NC_000010.10:g.62648269T>G, NM_014836.5:c.1157A>C, NM_014836.4:c.1157A>C, XM_017017000.3:c.1157A>C, XM_017017000.2:c.1157A>C, XM_017017000.1:c.1157A>C, XM_017017002.3:c.1157A>C, XM_017017002.2:c.1157A>C, XM_017017002.1:c.1157A>C, XM_024448273.2:c.1157A>C, XM_024448273.1:c.1157A>C, XM_011540428.2:c.1157A>C, XM_011540428.1:c.1157A>C, NM_001242359.2:c.1157A>C, NM_001242359.1:c.1157A>C, NM_001350906.2:c.797A>C, NM_001350906.1:c.797A>C, XM_024448270.2:c.1157A>C, XM_024448270.1:c.1157A>C, NM_001350908.2:c.797A>C, NM_001350908.1:c.797A>C, NM_001350907.2:c.797A>C, NM_001350907.1:c.797A>C, NM_001350903.2:c.1157A>C, NM_001350903.1:c.1157A>C, NR_024554.2:n.1397A>C, NM_001350909.2:c.797A>C, NM_001350909.1:c.797A>C, XM_024448272.2:c.1157A>C, XM_024448272.1:c.1157A>C, XM_006718085.2:c.1157A>C, XM_006718085.1:c.1157A>C, NM_001350902.2:c.1157A>C, NM_001350902.1:c.1157A>C, NM_001350911.2:c.797A>C, NM_001350911.1:c.797A>C, NM_001350910.2:c.797A>C, NM_001350910.1:c.797A>C, NM_001350904.2:c.1157A>C, NM_001350904.1:c.1157A>C, XM_024448271.2:c.1157A>C, XM_024448271.1:c.1157A>C, NM_001350905.2:c.1157A>C, NM_001350905.1:c.1157A>C, XM_011540425.2:c.1157A>C, XM_011540425.1:c.1157A>C, XM_011540424.2:c.1157A>C, XM_011540424.1:c.1157A>C, XM_047426077.1:c.1157A>C, XM_047426103.1:c.1157A>C, XM_047426102.1:c.1157A>C, XM_047426083.1:c.1157A>C, XM_047426084.1:c.1157A>C, XM_047426105.1:c.1157A>C, XM_047426104.1:c.1157A>C, XM_047426090.1:c.1157A>C, XM_047426097.1:c.1157A>C, NR_024556.1:n.1595A>C, XM_047426076.1:c.1157A>C, XM_047426078.1:c.1157A>C, XM_047426079.1:c.1157A>C, XM_047426075.1:c.1157A>C, XM_047426082.1:c.1157A>C, XM_047426086.1:c.1157A>C, XM_047426096.1:c.1157A>C, NM_198225.1:c.1157A>C, XM_047426089.1:c.1157A>C, XM_047426074.1:c.1157A>C, XM_047426088.1:c.1157A>C, NR_024555.1:n.1361A>C, NM_001032380.1:c.1157A>C, XM_047426093.1:c.1157A>C, XM_047426094.1:c.1157A>C, XM_047426091.1:c.1157A>C, XR_007062021.1:n.1437A>C, XR_007062020.1:n.1433A>C, XM_047426099.1:c.1157A>C, XM_047426092.1:c.1157A>C, XM_047426098.1:c.1157A>C, XM_047426087.1:c.1157A>C, XM_047426081.1:c.1157A>C, XR_007062022.1:n.1433A>C, XM_047426095.1:c.1157A>C, XM_047426080.1:c.1157A>C, XM_047426100.1:c.1157A>C, NP_055651.1:p.Gln386Pro, XP_016872489.1:p.Gln386Pro, XP_016872491.1:p.Gln386Pro, XP_024304041.1:p.Gln386Pro, XP_011538730.1:p.Gln386Pro, NP_001229288.1:p.Gln386Pro, NP_001337835.1:p.Gln266Pro, XP_024304038.1:p.Gln386Pro, NP_001337837.1:p.Gln266Pro, NP_001337836.1:p.Gln266Pro, NP_001337832.1:p.Gln386Pro, NP_001337838.1:p.Gln266Pro, XP_024304040.1:p.Gln386Pro, XP_006718148.1:p.Gln386Pro, NP_001337831.1:p.Gln386Pro, NP_001337840.1:p.Gln266Pro, NP_001337839.1:p.Gln266Pro, NP_001337833.1:p.Gln386Pro, XP_024304039.1:p.Gln386Pro, NP_001337834.1:p.Gln386Pro, XP_011538727.1:p.Gln386Pro, XP_011538726.1:p.Gln386Pro, XP_047282033.1:p.Gln386Pro, XP_047282059.1:p.Gln386Pro, XP_047282058.1:p.Gln386Pro, XP_047282039.1:p.Gln386Pro, XP_047282040.1:p.Gln386Pro, XP_047282061.1:p.Gln386Pro, XP_047282060.1:p.Gln386Pro, XP_047282046.1:p.Gln386Pro, XP_047282053.1:p.Gln386Pro, XP_047282032.1:p.Gln386Pro, XP_047282034.1:p.Gln386Pro, XP_047282035.1:p.Gln386Pro, XP_047282031.1:p.Gln386Pro, XP_047282038.1:p.Gln386Pro, XP_047282042.1:p.Gln386Pro, XP_047282052.1:p.Gln386Pro, XP_047282045.1:p.Gln386Pro, XP_047282030.1:p.Gln386Pro, XP_047282044.1:p.Gln386Pro, XP_047282049.1:p.Gln386Pro, XP_047282050.1:p.Gln386Pro, XP_047282047.1:p.Gln386Pro, XP_047282055.1:p.Gln386Pro, XP_047282048.1:p.Gln386Pro, XP_047282054.1:p.Gln386Pro, XP_047282043.1:p.Gln386Pro, XP_047282037.1:p.Gln386Pro, XP_047282051.1:p.Gln386Pro, XP_047282036.1:p.Gln386Pro, XP_047282056.1:p.Gln386Pro

                            14.

                            rs1464005867 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              10:60888639 (GRCh38)
                              10:62648397 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:60888638:G:A
                              Gene:
                              RHOBTB1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000008/2 (GnomAD_exomes)
                              HGVS:
                              NC_000010.11:g.60888639G>A, NC_000010.10:g.62648397G>A, NM_014836.5:c.1029C>T, NM_014836.4:c.1029C>T, XM_017017000.3:c.1029C>T, XM_017017000.2:c.1029C>T, XM_017017000.1:c.1029C>T, XM_017017002.3:c.1029C>T, XM_017017002.2:c.1029C>T, XM_017017002.1:c.1029C>T, XM_024448273.2:c.1029C>T, XM_024448273.1:c.1029C>T, XM_011540428.2:c.1029C>T, XM_011540428.1:c.1029C>T, NM_001242359.2:c.1029C>T, NM_001242359.1:c.1029C>T, NM_001350906.2:c.669C>T, NM_001350906.1:c.669C>T, XM_024448270.2:c.1029C>T, XM_024448270.1:c.1029C>T, NM_001350908.2:c.669C>T, NM_001350908.1:c.669C>T, NM_001350907.2:c.669C>T, NM_001350907.1:c.669C>T, NM_001350903.2:c.1029C>T, NM_001350903.1:c.1029C>T, NR_024554.2:n.1269C>T, NM_001350909.2:c.669C>T, NM_001350909.1:c.669C>T, XM_024448272.2:c.1029C>T, XM_024448272.1:c.1029C>T, XM_006718085.2:c.1029C>T, XM_006718085.1:c.1029C>T, NM_001350902.2:c.1029C>T, NM_001350902.1:c.1029C>T, NM_001350911.2:c.669C>T, NM_001350911.1:c.669C>T, NM_001350910.2:c.669C>T, NM_001350910.1:c.669C>T, NM_001350904.2:c.1029C>T, NM_001350904.1:c.1029C>T, XM_024448271.2:c.1029C>T, XM_024448271.1:c.1029C>T, NM_001350905.2:c.1029C>T, NM_001350905.1:c.1029C>T, XM_011540425.2:c.1029C>T, XM_011540425.1:c.1029C>T, XM_011540424.2:c.1029C>T, XM_011540424.1:c.1029C>T, XM_047426077.1:c.1029C>T, XM_047426103.1:c.1029C>T, XM_047426102.1:c.1029C>T, XM_047426083.1:c.1029C>T, XM_047426084.1:c.1029C>T, XM_047426105.1:c.1029C>T, XM_047426104.1:c.1029C>T, XM_047426090.1:c.1029C>T, XM_047426097.1:c.1029C>T, NR_024556.1:n.1467C>T, XM_047426076.1:c.1029C>T, XM_047426078.1:c.1029C>T, XM_047426079.1:c.1029C>T, XM_047426075.1:c.1029C>T, XM_047426082.1:c.1029C>T, XM_047426086.1:c.1029C>T, XM_047426096.1:c.1029C>T, NM_198225.1:c.1029C>T, XM_047426089.1:c.1029C>T, XM_047426074.1:c.1029C>T, XM_047426088.1:c.1029C>T, NR_024555.1:n.1233C>T, NM_001032380.1:c.1029C>T, XM_047426093.1:c.1029C>T, XM_047426094.1:c.1029C>T, XM_047426091.1:c.1029C>T, XR_007062021.1:n.1309C>T, XR_007062020.1:n.1305C>T, XM_047426099.1:c.1029C>T, XM_047426092.1:c.1029C>T, XM_047426098.1:c.1029C>T, XM_047426087.1:c.1029C>T, XM_047426081.1:c.1029C>T, XR_007062022.1:n.1305C>T, XM_047426095.1:c.1029C>T, XM_047426080.1:c.1029C>T, XM_047426100.1:c.1029C>T

                              15.

                              rs1463708797 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                10:60889101 (GRCh38)
                                10:62648859 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:60889100:G:A
                                Gene:
                                RHOBTB1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000010.11:g.60889101G>A, NC_000010.10:g.62648859G>A, NM_014836.5:c.567C>T, NM_014836.4:c.567C>T, XM_017017000.3:c.567C>T, XM_017017000.2:c.567C>T, XM_017017000.1:c.567C>T, XM_017017002.3:c.567C>T, XM_017017002.2:c.567C>T, XM_017017002.1:c.567C>T, XM_024448273.2:c.567C>T, XM_024448273.1:c.567C>T, XM_011540428.2:c.567C>T, XM_011540428.1:c.567C>T, NM_001242359.2:c.567C>T, NM_001242359.1:c.567C>T, NM_001350906.2:c.207C>T, NM_001350906.1:c.207C>T, XM_024448270.2:c.567C>T, XM_024448270.1:c.567C>T, NM_001350908.2:c.207C>T, NM_001350908.1:c.207C>T, NM_001350907.2:c.207C>T, NM_001350907.1:c.207C>T, NM_001350903.2:c.567C>T, NM_001350903.1:c.567C>T, NR_024554.2:n.807C>T, NM_001350909.2:c.207C>T, NM_001350909.1:c.207C>T, XM_024448272.2:c.567C>T, XM_024448272.1:c.567C>T, XM_006718085.2:c.567C>T, XM_006718085.1:c.567C>T, NM_001350902.2:c.567C>T, NM_001350902.1:c.567C>T, NM_001350911.2:c.207C>T, NM_001350911.1:c.207C>T, NM_001350910.2:c.207C>T, NM_001350910.1:c.207C>T, NM_001350904.2:c.567C>T, NM_001350904.1:c.567C>T, XM_024448271.2:c.567C>T, XM_024448271.1:c.567C>T, NM_001350905.2:c.567C>T, NM_001350905.1:c.567C>T, XM_011540425.2:c.567C>T, XM_011540425.1:c.567C>T, XM_011540424.2:c.567C>T, XM_011540424.1:c.567C>T, XM_047426077.1:c.567C>T, XM_047426103.1:c.567C>T, XM_047426102.1:c.567C>T, XM_047426083.1:c.567C>T, XM_047426084.1:c.567C>T, XM_047426105.1:c.567C>T, XM_047426104.1:c.567C>T, XM_047426090.1:c.567C>T, XM_047426097.1:c.567C>T, NR_024556.1:n.1005C>T, XM_047426076.1:c.567C>T, XM_047426078.1:c.567C>T, XM_047426079.1:c.567C>T, XM_047426075.1:c.567C>T, XM_047426082.1:c.567C>T, XM_047426086.1:c.567C>T, XM_047426096.1:c.567C>T, NM_198225.1:c.567C>T, XM_047426089.1:c.567C>T, XM_047426074.1:c.567C>T, XM_047426088.1:c.567C>T, NR_024555.1:n.771C>T, NM_001032380.1:c.567C>T, XM_047426093.1:c.567C>T, XM_047426094.1:c.567C>T, XM_047426091.1:c.567C>T, XR_007062021.1:n.847C>T, XR_007062020.1:n.843C>T, XM_047426099.1:c.567C>T, XM_047426092.1:c.567C>T, XM_047426098.1:c.567C>T, XM_047426087.1:c.567C>T, XM_047426081.1:c.567C>T, XR_007062022.1:n.843C>T, XM_047426095.1:c.567C>T, XM_047426080.1:c.567C>T, XM_047426100.1:c.567C>T

                                16.

                                rs1462415528 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  10:60872249 (GRCh38)
                                  10:62632007 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:60872248:G:A
                                  Gene:
                                  RHOBTB1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000010.11:g.60872249G>A, NC_000010.10:g.62632007G>A, NM_014836.5:c.1857C>T, NM_014836.4:c.1857C>T, XM_017017000.3:c.1857C>T, XM_017017000.2:c.1857C>T, XM_017017000.1:c.1857C>T, XM_024448273.2:c.1857C>T, XM_024448273.1:c.1857C>T, NM_001242359.2:c.1857C>T, NM_001242359.1:c.1857C>T, NM_001350906.2:c.1497C>T, NM_001350906.1:c.1497C>T, XM_024448270.2:c.1857C>T, XM_024448270.1:c.1857C>T, NM_001350908.2:c.1497C>T, NM_001350908.1:c.1497C>T, NM_001350907.2:c.1497C>T, NM_001350907.1:c.1497C>T, NM_001350903.2:c.1857C>T, NM_001350903.1:c.1857C>T, NR_024554.2:n.2097C>T, NM_001350909.2:c.1497C>T, NM_001350909.1:c.1497C>T, XM_024448272.2:c.1857C>T, XM_024448272.1:c.1857C>T, XM_006718085.2:c.1857C>T, XM_006718085.1:c.1857C>T, NM_001350902.2:c.1857C>T, NM_001350902.1:c.1857C>T, NM_001350911.2:c.1497C>T, NM_001350911.1:c.1497C>T, NM_001350910.2:c.1497C>T, NM_001350910.1:c.1497C>T, NM_001350904.2:c.1857C>T, NM_001350904.1:c.1857C>T, XM_024448271.2:c.1857C>T, XM_024448271.1:c.1857C>T, NM_001350905.2:c.1857C>T, NM_001350905.1:c.1857C>T, XM_011540424.2:c.1857C>T, XM_011540424.1:c.1857C>T, XM_047426077.1:c.1857C>T, XM_047426083.1:c.1857C>T, XM_047426084.1:c.1857C>T, XM_047426090.1:c.1857C>T, NR_024556.1:n.2295C>T, XM_047426076.1:c.1857C>T, XM_047426078.1:c.1857C>T, XM_047426079.1:c.1857C>T, XM_047426075.1:c.1857C>T, XM_047426082.1:c.1857C>T, XM_047426086.1:c.1857C>T, NM_198225.1:c.1857C>T, XM_047426089.1:c.1857C>T, XM_047426074.1:c.1857C>T, XM_047426088.1:c.1857C>T, NR_024555.1:n.2061C>T, NM_001032380.1:c.1857C>T, XM_047426093.1:c.1857C>T, XM_047426094.1:c.1857C>T, XM_047426091.1:c.1857C>T, XM_047426092.1:c.1857C>T, XM_047426087.1:c.1857C>T, XM_047426081.1:c.1857C>T, XM_047426095.1:c.1857C>T, XM_047426080.1:c.1857C>T

                                  17.

                                  rs1461451010 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    10:60871560 (GRCh38)
                                    10:62631318 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:60871559:C:T
                                    Gene:
                                    RHOBTB1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_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)
                                    HGVS:
                                    NC_000010.11:g.60871560C>T, NC_000010.10:g.62631318C>T, NM_014836.5:c.2013G>A, NM_014836.4:c.2013G>A, XM_017017000.3:c.2013G>A, XM_017017000.2:c.2013G>A, XM_017017000.1:c.2013G>A, XM_017017002.3:c.*41G>A, XM_017017002.2:c.*41G>A, XM_017017002.1:c.*41G>A, XM_024448273.2:c.2013G>A, XM_024448273.1:c.2013G>A, NM_001242359.2:c.2013G>A, NM_001242359.1:c.2013G>A, NM_001350906.2:c.1653G>A, NM_001350906.1:c.1653G>A, XM_024448270.2:c.2013G>A, XM_024448270.1:c.2013G>A, NM_001350908.2:c.1653G>A, NM_001350908.1:c.1653G>A, NM_001350907.2:c.1653G>A, NM_001350907.1:c.1653G>A, NM_001350903.2:c.2013G>A, NM_001350903.1:c.2013G>A, NR_024554.2:n.2253G>A, NM_001350909.2:c.1653G>A, NM_001350909.1:c.1653G>A, XM_024448272.2:c.2013G>A, XM_024448272.1:c.2013G>A, XM_006718085.2:c.2013G>A, XM_006718085.1:c.2013G>A, NM_001350902.2:c.2013G>A, NM_001350902.1:c.2013G>A, NM_001350911.2:c.1653G>A, NM_001350911.1:c.1653G>A, NM_001350910.2:c.1653G>A, NM_001350910.1:c.1653G>A, NM_001350904.2:c.2013G>A, NM_001350904.1:c.2013G>A, XM_024448271.2:c.2013G>A, XM_024448271.1:c.2013G>A, NM_001350905.2:c.2013G>A, NM_001350905.1:c.2013G>A, XM_011540425.2:c.*41G>A, XM_011540425.1:c.*41G>A, XM_011540424.2:c.2013G>A, XM_011540424.1:c.2013G>A, XM_047426077.1:c.2013G>A, XM_047426083.1:c.2013G>A, XM_047426084.1:c.2013G>A, XM_047426090.1:c.2013G>A, XM_047426097.1:c.*41G>A, NR_024556.1:n.2451G>A, XM_047426076.1:c.2013G>A, XM_047426078.1:c.2013G>A, XM_047426079.1:c.2013G>A, XM_047426075.1:c.2013G>A, XM_047426082.1:c.2013G>A, XM_047426086.1:c.2013G>A, XM_047426096.1:c.*41G>A, NM_198225.1:c.2013G>A, XM_047426089.1:c.2013G>A, XM_047426074.1:c.2013G>A, XM_047426088.1:c.2013G>A, NR_024555.1:n.2217G>A, NM_001032380.1:c.2013G>A, XM_047426093.1:c.2013G>A, XM_047426094.1:c.2013G>A, XM_047426091.1:c.2013G>A, XR_007062021.1:n.2187G>A, XR_007062020.1:n.2183G>A, XM_047426099.1:c.*41G>A, XM_047426092.1:c.2013G>A, XM_047426098.1:c.*41G>A, XM_047426087.1:c.2013G>A, XM_047426081.1:c.2013G>A, XR_007062022.1:n.2183G>A, XM_047426095.1:c.2013G>A, XM_047426080.1:c.2013G>A

                                    18.

                                    rs1459711712 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      10:60888432 (GRCh38)
                                      10:62648190 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:60888431:C:G
                                      Gene:
                                      RHOBTB1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000035/1 (TOMMO)
                                      HGVS:
                                      NC_000010.11:g.60888432C>G, NC_000010.10:g.62648190C>G, NM_014836.5:c.1236G>C, NM_014836.4:c.1236G>C, XM_017017000.3:c.1236G>C, XM_017017000.2:c.1236G>C, XM_017017000.1:c.1236G>C, XM_017017002.3:c.1236G>C, XM_017017002.2:c.1236G>C, XM_017017002.1:c.1236G>C, XM_024448273.2:c.1236G>C, XM_024448273.1:c.1236G>C, XM_011540428.2:c.1236G>C, XM_011540428.1:c.1236G>C, NM_001242359.2:c.1236G>C, NM_001242359.1:c.1236G>C, NM_001350906.2:c.876G>C, NM_001350906.1:c.876G>C, XM_024448270.2:c.1236G>C, XM_024448270.1:c.1236G>C, NM_001350908.2:c.876G>C, NM_001350908.1:c.876G>C, NM_001350907.2:c.876G>C, NM_001350907.1:c.876G>C, NM_001350903.2:c.1236G>C, NM_001350903.1:c.1236G>C, NR_024554.2:n.1476G>C, NM_001350909.2:c.876G>C, NM_001350909.1:c.876G>C, XM_024448272.2:c.1236G>C, XM_024448272.1:c.1236G>C, XM_006718085.2:c.1236G>C, XM_006718085.1:c.1236G>C, NM_001350902.2:c.1236G>C, NM_001350902.1:c.1236G>C, NM_001350911.2:c.876G>C, NM_001350911.1:c.876G>C, NM_001350910.2:c.876G>C, NM_001350910.1:c.876G>C, NM_001350904.2:c.1236G>C, NM_001350904.1:c.1236G>C, XM_024448271.2:c.1236G>C, XM_024448271.1:c.1236G>C, NM_001350905.2:c.1236G>C, NM_001350905.1:c.1236G>C, XM_011540425.2:c.1236G>C, XM_011540425.1:c.1236G>C, XM_011540424.2:c.1236G>C, XM_011540424.1:c.1236G>C, XM_047426077.1:c.1236G>C, XM_047426103.1:c.1236G>C, XM_047426102.1:c.1236G>C, XM_047426083.1:c.1236G>C, XM_047426084.1:c.1236G>C, XM_047426105.1:c.1236G>C, XM_047426104.1:c.1236G>C, XM_047426090.1:c.1236G>C, XM_047426097.1:c.1236G>C, NR_024556.1:n.1674G>C, XM_047426076.1:c.1236G>C, XM_047426078.1:c.1236G>C, XM_047426079.1:c.1236G>C, XM_047426075.1:c.1236G>C, XM_047426082.1:c.1236G>C, XM_047426086.1:c.1236G>C, XM_047426096.1:c.1236G>C, NM_198225.1:c.1236G>C, XM_047426089.1:c.1236G>C, XM_047426074.1:c.1236G>C, XM_047426088.1:c.1236G>C, NR_024555.1:n.1440G>C, NM_001032380.1:c.1236G>C, XM_047426093.1:c.1236G>C, XM_047426094.1:c.1236G>C, XM_047426091.1:c.1236G>C, XR_007062021.1:n.1516G>C, XR_007062020.1:n.1512G>C, XM_047426099.1:c.1236G>C, XM_047426092.1:c.1236G>C, XM_047426098.1:c.1236G>C, XM_047426087.1:c.1236G>C, XM_047426081.1:c.1236G>C, XR_007062022.1:n.1512G>C, XM_047426095.1:c.1236G>C, XM_047426080.1:c.1236G>C, XM_047426100.1:c.1236G>C

                                      19.

                                      rs1457752475 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        10:60889141 (GRCh38)
                                        10:62648899 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:60889140:T:C
                                        Gene:
                                        RHOBTB1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000010.11:g.60889141T>C, NC_000010.10:g.62648899T>C, NM_014836.5:c.527A>G, NM_014836.4:c.527A>G, XM_017017000.3:c.527A>G, XM_017017000.2:c.527A>G, XM_017017000.1:c.527A>G, XM_017017002.3:c.527A>G, XM_017017002.2:c.527A>G, XM_017017002.1:c.527A>G, XM_024448273.2:c.527A>G, XM_024448273.1:c.527A>G, XM_011540428.2:c.527A>G, XM_011540428.1:c.527A>G, NM_001242359.2:c.527A>G, NM_001242359.1:c.527A>G, NM_001350906.2:c.167A>G, NM_001350906.1:c.167A>G, XM_024448270.2:c.527A>G, XM_024448270.1:c.527A>G, NM_001350908.2:c.167A>G, NM_001350908.1:c.167A>G, NM_001350907.2:c.167A>G, NM_001350907.1:c.167A>G, NM_001350903.2:c.527A>G, NM_001350903.1:c.527A>G, NR_024554.2:n.767A>G, NM_001350909.2:c.167A>G, NM_001350909.1:c.167A>G, XM_024448272.2:c.527A>G, XM_024448272.1:c.527A>G, XM_006718085.2:c.527A>G, XM_006718085.1:c.527A>G, NM_001350902.2:c.527A>G, NM_001350902.1:c.527A>G, NM_001350911.2:c.167A>G, NM_001350911.1:c.167A>G, NM_001350910.2:c.167A>G, NM_001350910.1:c.167A>G, NM_001350904.2:c.527A>G, NM_001350904.1:c.527A>G, XM_024448271.2:c.527A>G, XM_024448271.1:c.527A>G, NM_001350905.2:c.527A>G, NM_001350905.1:c.527A>G, XM_011540425.2:c.527A>G, XM_011540425.1:c.527A>G, XM_011540424.2:c.527A>G, XM_011540424.1:c.527A>G, XM_047426077.1:c.527A>G, XM_047426103.1:c.527A>G, XM_047426102.1:c.527A>G, XM_047426083.1:c.527A>G, XM_047426084.1:c.527A>G, XM_047426105.1:c.527A>G, XM_047426104.1:c.527A>G, XM_047426090.1:c.527A>G, XM_047426097.1:c.527A>G, NR_024556.1:n.965A>G, XM_047426076.1:c.527A>G, XM_047426078.1:c.527A>G, XM_047426079.1:c.527A>G, XM_047426075.1:c.527A>G, XM_047426082.1:c.527A>G, XM_047426086.1:c.527A>G, XM_047426096.1:c.527A>G, NM_198225.1:c.527A>G, XM_047426089.1:c.527A>G, XM_047426074.1:c.527A>G, XM_047426088.1:c.527A>G, NR_024555.1:n.731A>G, NM_001032380.1:c.527A>G, XM_047426093.1:c.527A>G, XM_047426094.1:c.527A>G, XM_047426091.1:c.527A>G, XR_007062021.1:n.807A>G, XR_007062020.1:n.803A>G, XM_047426099.1:c.527A>G, XM_047426092.1:c.527A>G, XM_047426098.1:c.527A>G, XM_047426087.1:c.527A>G, XM_047426081.1:c.527A>G, XR_007062022.1:n.803A>G, XM_047426095.1:c.527A>G, XM_047426080.1:c.527A>G, XM_047426100.1:c.527A>G, NP_055651.1:p.Glu176Gly, XP_016872489.1:p.Glu176Gly, XP_016872491.1:p.Glu176Gly, XP_024304041.1:p.Glu176Gly, XP_011538730.1:p.Glu176Gly, NP_001229288.1:p.Glu176Gly, NP_001337835.1:p.Glu56Gly, XP_024304038.1:p.Glu176Gly, NP_001337837.1:p.Glu56Gly, NP_001337836.1:p.Glu56Gly, NP_001337832.1:p.Glu176Gly, NP_001337838.1:p.Glu56Gly, XP_024304040.1:p.Glu176Gly, XP_006718148.1:p.Glu176Gly, NP_001337831.1:p.Glu176Gly, NP_001337840.1:p.Glu56Gly, NP_001337839.1:p.Glu56Gly, NP_001337833.1:p.Glu176Gly, XP_024304039.1:p.Glu176Gly, NP_001337834.1:p.Glu176Gly, XP_011538727.1:p.Glu176Gly, XP_011538726.1:p.Glu176Gly, XP_047282033.1:p.Glu176Gly, XP_047282059.1:p.Glu176Gly, XP_047282058.1:p.Glu176Gly, XP_047282039.1:p.Glu176Gly, XP_047282040.1:p.Glu176Gly, XP_047282061.1:p.Glu176Gly, XP_047282060.1:p.Glu176Gly, XP_047282046.1:p.Glu176Gly, XP_047282053.1:p.Glu176Gly, XP_047282032.1:p.Glu176Gly, XP_047282034.1:p.Glu176Gly, XP_047282035.1:p.Glu176Gly, XP_047282031.1:p.Glu176Gly, XP_047282038.1:p.Glu176Gly, XP_047282042.1:p.Glu176Gly, XP_047282052.1:p.Glu176Gly, XP_047282045.1:p.Glu176Gly, XP_047282030.1:p.Glu176Gly, XP_047282044.1:p.Glu176Gly, XP_047282049.1:p.Glu176Gly, XP_047282050.1:p.Glu176Gly, XP_047282047.1:p.Glu176Gly, XP_047282055.1:p.Glu176Gly, XP_047282048.1:p.Glu176Gly, XP_047282054.1:p.Glu176Gly, XP_047282043.1:p.Glu176Gly, XP_047282037.1:p.Glu176Gly, XP_047282051.1:p.Glu176Gly, XP_047282036.1:p.Glu176Gly, XP_047282056.1:p.Glu176Gly

                                        20.

                                        rs1457224165 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          10:60888720 (GRCh38)
                                          10:62648478 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:60888719:C:G,NC_000010.11:60888719:C:T
                                          Gene:
                                          RHOBTB1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant,missense_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          G=0.000008/2 (GnomAD_exomes)
                                          T=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000010.11:g.60888720C>G, NC_000010.11:g.60888720C>T, NC_000010.10:g.62648478C>G, NC_000010.10:g.62648478C>T, NM_014836.5:c.948G>C, NM_014836.5:c.948G>A, NM_014836.4:c.948G>C, NM_014836.4:c.948G>A, XM_017017000.3:c.948G>C, XM_017017000.3:c.948G>A, XM_017017000.2:c.948G>C, XM_017017000.2:c.948G>A, XM_017017000.1:c.948G>C, XM_017017000.1:c.948G>A, XM_017017002.3:c.948G>C, XM_017017002.3:c.948G>A, XM_017017002.2:c.948G>C, XM_017017002.2:c.948G>A, XM_017017002.1:c.948G>C, XM_017017002.1:c.948G>A, XM_024448273.2:c.948G>C, XM_024448273.2:c.948G>A, XM_024448273.1:c.948G>C, XM_024448273.1:c.948G>A, XM_011540428.2:c.948G>C, XM_011540428.2:c.948G>A, XM_011540428.1:c.948G>C, XM_011540428.1:c.948G>A, NM_001242359.2:c.948G>C, NM_001242359.2:c.948G>A, NM_001242359.1:c.948G>C, NM_001242359.1:c.948G>A, NM_001350906.2:c.588G>C, NM_001350906.2:c.588G>A, NM_001350906.1:c.588G>C, NM_001350906.1:c.588G>A, XM_024448270.2:c.948G>C, XM_024448270.2:c.948G>A, XM_024448270.1:c.948G>C, XM_024448270.1:c.948G>A, NM_001350908.2:c.588G>C, NM_001350908.2:c.588G>A, NM_001350908.1:c.588G>C, NM_001350908.1:c.588G>A, NM_001350907.2:c.588G>C, NM_001350907.2:c.588G>A, NM_001350907.1:c.588G>C, NM_001350907.1:c.588G>A, NM_001350903.2:c.948G>C, NM_001350903.2:c.948G>A, NM_001350903.1:c.948G>C, NM_001350903.1:c.948G>A, NR_024554.2:n.1188G>C, NR_024554.2:n.1188G>A, NM_001350909.2:c.588G>C, NM_001350909.2:c.588G>A, NM_001350909.1:c.588G>C, NM_001350909.1:c.588G>A, XM_024448272.2:c.948G>C, XM_024448272.2:c.948G>A, XM_024448272.1:c.948G>C, XM_024448272.1:c.948G>A, XM_006718085.2:c.948G>C, XM_006718085.2:c.948G>A, XM_006718085.1:c.948G>C, XM_006718085.1:c.948G>A, NM_001350902.2:c.948G>C, NM_001350902.2:c.948G>A, NM_001350902.1:c.948G>C, NM_001350902.1:c.948G>A, NM_001350911.2:c.588G>C, NM_001350911.2:c.588G>A, NM_001350911.1:c.588G>C, NM_001350911.1:c.588G>A, NM_001350910.2:c.588G>C, NM_001350910.2:c.588G>A, NM_001350910.1:c.588G>C, NM_001350910.1:c.588G>A, NM_001350904.2:c.948G>C, NM_001350904.2:c.948G>A, NM_001350904.1:c.948G>C, NM_001350904.1:c.948G>A, XM_024448271.2:c.948G>C, XM_024448271.2:c.948G>A, XM_024448271.1:c.948G>C, XM_024448271.1:c.948G>A, NM_001350905.2:c.948G>C, NM_001350905.2:c.948G>A, NM_001350905.1:c.948G>C, NM_001350905.1:c.948G>A, XM_011540425.2:c.948G>C, XM_011540425.2:c.948G>A, XM_011540425.1:c.948G>C, XM_011540425.1:c.948G>A, XM_011540424.2:c.948G>C, XM_011540424.2:c.948G>A, XM_011540424.1:c.948G>C, XM_011540424.1:c.948G>A, XM_047426077.1:c.948G>C, XM_047426077.1:c.948G>A, XM_047426103.1:c.948G>C, XM_047426103.1:c.948G>A, XM_047426102.1:c.948G>C, XM_047426102.1:c.948G>A, XM_047426083.1:c.948G>C, XM_047426083.1:c.948G>A, XM_047426084.1:c.948G>C, XM_047426084.1:c.948G>A, XM_047426105.1:c.948G>C, XM_047426105.1:c.948G>A, XM_047426104.1:c.948G>C, XM_047426104.1:c.948G>A, XM_047426090.1:c.948G>C, XM_047426090.1:c.948G>A, XM_047426097.1:c.948G>C, XM_047426097.1:c.948G>A, NR_024556.1:n.1386G>C, NR_024556.1:n.1386G>A, XM_047426076.1:c.948G>C, XM_047426076.1:c.948G>A, XM_047426078.1:c.948G>C, XM_047426078.1:c.948G>A, XM_047426079.1:c.948G>C, XM_047426079.1:c.948G>A, XM_047426075.1:c.948G>C, XM_047426075.1:c.948G>A, XM_047426082.1:c.948G>C, XM_047426082.1:c.948G>A, XM_047426086.1:c.948G>C, XM_047426086.1:c.948G>A, XM_047426096.1:c.948G>C, XM_047426096.1:c.948G>A, NM_198225.1:c.948G>C, NM_198225.1:c.948G>A, XM_047426089.1:c.948G>C, XM_047426089.1:c.948G>A, XM_047426074.1:c.948G>C, XM_047426074.1:c.948G>A, XM_047426088.1:c.948G>C, XM_047426088.1:c.948G>A, NR_024555.1:n.1152G>C, NR_024555.1:n.1152G>A, NM_001032380.1:c.948G>C, NM_001032380.1:c.948G>A, XM_047426093.1:c.948G>C, XM_047426093.1:c.948G>A, XM_047426094.1:c.948G>C, XM_047426094.1:c.948G>A, XM_047426091.1:c.948G>C, XM_047426091.1:c.948G>A, XR_007062021.1:n.1228G>C, XR_007062021.1:n.1228G>A, XR_007062020.1:n.1224G>C, XR_007062020.1:n.1224G>A, XM_047426099.1:c.948G>C, XM_047426099.1:c.948G>A, XM_047426092.1:c.948G>C, XM_047426092.1:c.948G>A, XM_047426098.1:c.948G>C, XM_047426098.1:c.948G>A, XM_047426087.1:c.948G>C, XM_047426087.1:c.948G>A, XM_047426081.1:c.948G>C, XM_047426081.1:c.948G>A, XR_007062022.1:n.1224G>C, XR_007062022.1:n.1224G>A, XM_047426095.1:c.948G>C, XM_047426095.1:c.948G>A, XM_047426080.1:c.948G>C, XM_047426080.1:c.948G>A, XM_047426100.1:c.948G>C, XM_047426100.1:c.948G>A, NP_055651.1:p.Gln316His, XP_016872489.1:p.Gln316His, XP_016872491.1:p.Gln316His, XP_024304041.1:p.Gln316His, XP_011538730.1:p.Gln316His, NP_001229288.1:p.Gln316His, NP_001337835.1:p.Gln196His, XP_024304038.1:p.Gln316His, NP_001337837.1:p.Gln196His, NP_001337836.1:p.Gln196His, NP_001337832.1:p.Gln316His, NP_001337838.1:p.Gln196His, XP_024304040.1:p.Gln316His, XP_006718148.1:p.Gln316His, NP_001337831.1:p.Gln316His, NP_001337840.1:p.Gln196His, NP_001337839.1:p.Gln196His, NP_001337833.1:p.Gln316His, XP_024304039.1:p.Gln316His, NP_001337834.1:p.Gln316His, XP_011538727.1:p.Gln316His, XP_011538726.1:p.Gln316His, XP_047282033.1:p.Gln316His, XP_047282059.1:p.Gln316His, XP_047282058.1:p.Gln316His, XP_047282039.1:p.Gln316His, XP_047282040.1:p.Gln316His, XP_047282061.1:p.Gln316His, XP_047282060.1:p.Gln316His, XP_047282046.1:p.Gln316His, XP_047282053.1:p.Gln316His, XP_047282032.1:p.Gln316His, XP_047282034.1:p.Gln316His, XP_047282035.1:p.Gln316His, XP_047282031.1:p.Gln316His, XP_047282038.1:p.Gln316His, XP_047282042.1:p.Gln316His, XP_047282052.1:p.Gln316His, XP_047282045.1:p.Gln316His, XP_047282030.1:p.Gln316His, XP_047282044.1:p.Gln316His, XP_047282049.1:p.Gln316His, XP_047282050.1:p.Gln316His, XP_047282047.1:p.Gln316His, XP_047282055.1:p.Gln316His, XP_047282048.1:p.Gln316His, XP_047282054.1:p.Gln316His, XP_047282043.1:p.Gln316His, XP_047282037.1:p.Gln316His, XP_047282051.1:p.Gln316His, XP_047282036.1:p.Gln316His, XP_047282056.1:p.Gln316His

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