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Items: 1 to 20 of 641

1.

rs1490545028 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    6:44139585 (GRCh38)
    6:44107322 (GRCh37)
    Canonical SPDI:
    NC_000006.12:44139584:G:A
    Gene:
    POLR1C (Varview), TMEM63B (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    NC_000006.12:g.44139585G>A, NC_000006.11:g.44107322G>A, XM_005249213.5:c.526G>A, XM_005249213.4:c.526G>A, XM_005249213.3:c.526G>A, XM_005249213.2:c.526G>A, XM_005249213.1:c.526G>A, NM_018426.3:c.526G>A, NM_018426.2:c.526G>A, NM_018426.1:c.526G>A, XR_001743506.3:n.853G>A, XR_001743506.2:n.1055G>A, XR_001743506.1:n.1055G>A, XM_017010999.2:c.553G>A, XM_017010999.1:c.553G>A, XM_005249217.2:c.526G>A, XM_005249217.1:c.526G>A, XM_017011002.2:c.487G>A, XM_017011002.1:c.487G>A, XM_006715135.2:c.526G>A, XM_006715135.1:c.526G>A, XM_024446482.2:c.487G>A, XM_024446482.1:c.487G>A, XM_017011001.2:c.487G>A, XM_017011001.1:c.487G>A, XM_047418970.1:c.553G>A, XM_047418973.1:c.526G>A, XM_047418972.1:c.526G>A, XM_047418975.1:c.514G>A, XM_047418974.1:c.514G>A, XM_047418980.1:c.487G>A, XM_047418971.1:c.553G>A, XM_047418978.1:c.487G>A, XM_047418969.1:c.553G>A, XM_047418977.1:c.514G>A, XM_047418976.1:c.514G>A, NM_001318792.1:c.526G>A, XM_047418979.1:c.487G>A, XP_005249270.1:p.Val176Ile, NP_060896.1:p.Val176Ile, XP_016866488.1:p.Val185Ile, XP_005249274.1:p.Val176Ile, XP_016866491.1:p.Val163Ile, XP_006715198.1:p.Val176Ile, XP_024302250.1:p.Val163Ile, XP_016866490.1:p.Val163Ile, XP_047274926.1:p.Val185Ile, XP_047274929.1:p.Val176Ile, XP_047274928.1:p.Val176Ile, XP_047274931.1:p.Val172Ile, XP_047274930.1:p.Val172Ile, XP_047274936.1:p.Val163Ile, XP_047274927.1:p.Val185Ile, XP_047274934.1:p.Val163Ile, XP_047274925.1:p.Val185Ile, XP_047274933.1:p.Val172Ile, XP_047274932.1:p.Val172Ile, NP_001305721.1:p.Val176Ile, XP_047274935.1:p.Val163Ile

    2.

    rs1486548347 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      6:44149908 (GRCh38)
      6:44117645 (GRCh37)
      Canonical SPDI:
      NC_000006.12:44149907:C:T
      Gene:
      POLR1C (Varview), TMEM63B (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
      HGVS:
      NC_000006.12:g.44149908C>T, NC_000006.11:g.44117645C>T, XM_005249213.5:c.1463C>T, XM_005249213.4:c.1463C>T, XM_005249213.3:c.1463C>T, XM_005249213.2:c.1463C>T, XM_005249213.1:c.1463C>T, NM_018426.3:c.1463C>T, NM_018426.2:c.1463C>T, NM_018426.1:c.1463C>T, XR_001743506.3:n.1790C>T, XR_001743506.2:n.1992C>T, XR_001743506.1:n.1992C>T, XM_017010999.2:c.1490C>T, XM_017010999.1:c.1490C>T, XM_005249217.2:c.1463C>T, XM_005249217.1:c.1463C>T, XM_017011002.2:c.1424C>T, XM_017011002.1:c.1424C>T, XM_006715135.2:c.1463C>T, XM_006715135.1:c.1463C>T, XM_024446482.2:c.1424C>T, XM_024446482.1:c.1424C>T, XM_017011001.2:c.1424C>T, XM_017011001.1:c.1424C>T, XM_047418970.1:c.1490C>T, XM_047418973.1:c.1463C>T, XM_047418972.1:c.1463C>T, XM_047418975.1:c.1451C>T, XM_047418974.1:c.1451C>T, XM_047418980.1:c.1424C>T, XM_047418971.1:c.1490C>T, XM_047418978.1:c.1424C>T, XM_047418969.1:c.1490C>T, XM_047418977.1:c.1451C>T, XM_047418976.1:c.1451C>T, NM_001318792.1:c.1463C>T, XM_047418979.1:c.1424C>T, XP_005249270.1:p.Ser488Leu, NP_060896.1:p.Ser488Leu, XP_016866488.1:p.Ser497Leu, XP_005249274.1:p.Ser488Leu, XP_016866491.1:p.Ser475Leu, XP_006715198.1:p.Ser488Leu, XP_024302250.1:p.Ser475Leu, XP_016866490.1:p.Ser475Leu, XP_047274926.1:p.Ser497Leu, XP_047274929.1:p.Ser488Leu, XP_047274928.1:p.Ser488Leu, XP_047274931.1:p.Ser484Leu, XP_047274930.1:p.Ser484Leu, XP_047274936.1:p.Ser475Leu, XP_047274927.1:p.Ser497Leu, XP_047274934.1:p.Ser475Leu, XP_047274925.1:p.Ser497Leu, XP_047274933.1:p.Ser484Leu, XP_047274932.1:p.Ser484Leu, NP_001305721.1:p.Ser488Leu, XP_047274935.1:p.Ser475Leu

      3.

      rs1485566045 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G,T [Show Flanks]
        Chromosome:
        6:44150619 (GRCh38)
        6:44118356 (GRCh37)
        Canonical SPDI:
        NC_000006.12:44150618:A:G,NC_000006.12:44150618:A:T
        Gene:
        POLR1C (Varview), TMEM63B (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by cluster
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        T=0.000156/1 (1000Genomes)
        HGVS:
        NC_000006.12:g.44150619A>G, NC_000006.12:g.44150619A>T, NC_000006.11:g.44118356A>G, NC_000006.11:g.44118356A>T, XM_005249213.5:c.1663A>G, XM_005249213.5:c.1663A>T, XM_005249213.4:c.1663A>G, XM_005249213.4:c.1663A>T, XM_005249213.3:c.1663A>G, XM_005249213.3:c.1663A>T, XM_005249213.2:c.1663A>G, XM_005249213.2:c.1663A>T, XM_005249213.1:c.1663A>G, XM_005249213.1:c.1663A>T, NM_018426.3:c.1663A>G, NM_018426.3:c.1663A>T, NM_018426.2:c.1663A>G, NM_018426.2:c.1663A>T, NM_018426.1:c.1663A>G, NM_018426.1:c.1663A>T, XR_001743506.3:n.1990A>G, XR_001743506.3:n.1990A>T, XR_001743506.2:n.2192A>G, XR_001743506.2:n.2192A>T, XR_001743506.1:n.2192A>G, XR_001743506.1:n.2192A>T, XM_017010999.2:c.1690A>G, XM_017010999.2:c.1690A>T, XM_017010999.1:c.1690A>G, XM_017010999.1:c.1690A>T, XM_005249217.2:c.1663A>G, XM_005249217.2:c.1663A>T, XM_005249217.1:c.1663A>G, XM_005249217.1:c.1663A>T, XM_017011002.2:c.1624A>G, XM_017011002.2:c.1624A>T, XM_017011002.1:c.1624A>G, XM_017011002.1:c.1624A>T, XM_006715135.2:c.1663A>G, XM_006715135.2:c.1663A>T, XM_006715135.1:c.1663A>G, XM_006715135.1:c.1663A>T, XM_024446482.2:c.1624A>G, XM_024446482.2:c.1624A>T, XM_024446482.1:c.1624A>G, XM_024446482.1:c.1624A>T, XM_017011001.2:c.1624A>G, XM_017011001.2:c.1624A>T, XM_017011001.1:c.1624A>G, XM_017011001.1:c.1624A>T, XM_047418970.1:c.1690A>G, XM_047418970.1:c.1690A>T, XM_047418973.1:c.1663A>G, XM_047418973.1:c.1663A>T, XM_047418972.1:c.1663A>G, XM_047418972.1:c.1663A>T, XM_047418975.1:c.1651A>G, XM_047418975.1:c.1651A>T, XM_047418974.1:c.1651A>G, XM_047418974.1:c.1651A>T, XM_047418980.1:c.1624A>G, XM_047418980.1:c.1624A>T, XM_047418971.1:c.1690A>G, XM_047418971.1:c.1690A>T, XM_047418978.1:c.1624A>G, XM_047418978.1:c.1624A>T, XM_047418969.1:c.1690A>G, XM_047418969.1:c.1690A>T, XM_047418977.1:c.1651A>G, XM_047418977.1:c.1651A>T, XM_047418976.1:c.1651A>G, XM_047418976.1:c.1651A>T, NM_001318792.1:c.1663A>G, NM_001318792.1:c.1663A>T, XM_047418979.1:c.1624A>G, XM_047418979.1:c.1624A>T, XP_005249270.1:p.Ile555Val, XP_005249270.1:p.Ile555Phe, NP_060896.1:p.Ile555Val, NP_060896.1:p.Ile555Phe, XP_016866488.1:p.Ile564Val, XP_016866488.1:p.Ile564Phe, XP_005249274.1:p.Ile555Val, XP_005249274.1:p.Ile555Phe, XP_016866491.1:p.Ile542Val, XP_016866491.1:p.Ile542Phe, XP_006715198.1:p.Ile555Val, XP_006715198.1:p.Ile555Phe, XP_024302250.1:p.Ile542Val, XP_024302250.1:p.Ile542Phe, XP_016866490.1:p.Ile542Val, XP_016866490.1:p.Ile542Phe, XP_047274926.1:p.Ile564Val, XP_047274926.1:p.Ile564Phe, XP_047274929.1:p.Ile555Val, XP_047274929.1:p.Ile555Phe, XP_047274928.1:p.Ile555Val, XP_047274928.1:p.Ile555Phe, XP_047274931.1:p.Ile551Val, XP_047274931.1:p.Ile551Phe, XP_047274930.1:p.Ile551Val, XP_047274930.1:p.Ile551Phe, XP_047274936.1:p.Ile542Val, XP_047274936.1:p.Ile542Phe, XP_047274927.1:p.Ile564Val, XP_047274927.1:p.Ile564Phe, XP_047274934.1:p.Ile542Val, XP_047274934.1:p.Ile542Phe, XP_047274925.1:p.Ile564Val, XP_047274925.1:p.Ile564Phe, XP_047274933.1:p.Ile551Val, XP_047274933.1:p.Ile551Phe, XP_047274932.1:p.Ile551Val, XP_047274932.1:p.Ile551Phe, NP_001305721.1:p.Ile555Val, NP_001305721.1:p.Ile555Phe, XP_047274935.1:p.Ile542Val, XP_047274935.1:p.Ile542Phe

        4.

        rs1485134715 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          6:44147482 (GRCh38)
          6:44115219 (GRCh37)
          Canonical SPDI:
          NC_000006.12:44147481:G:A
          Gene:
          POLR1C (Varview), TMEM63B (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant
          Validated:
          by frequency,by cluster
          MAF:
          A=0.0011/2 (Korea1K)
          HGVS:
          NC_000006.12:g.44147482G>A, NC_000006.11:g.44115219G>A, XM_005249213.5:c.969G>A, XM_005249213.4:c.969G>A, XM_005249213.3:c.969G>A, XM_005249213.2:c.969G>A, XM_005249213.1:c.969G>A, NM_018426.3:c.969G>A, NM_018426.2:c.969G>A, NM_018426.1:c.969G>A, XR_001743506.3:n.1296G>A, XR_001743506.2:n.1498G>A, XR_001743506.1:n.1498G>A, XM_017010999.2:c.996G>A, XM_017010999.1:c.996G>A, XM_005249217.2:c.969G>A, XM_005249217.1:c.969G>A, XM_017011002.2:c.930G>A, XM_017011002.1:c.930G>A, XM_006715135.2:c.969G>A, XM_006715135.1:c.969G>A, XM_024446482.2:c.930G>A, XM_024446482.1:c.930G>A, XM_017011001.2:c.930G>A, XM_017011001.1:c.930G>A, XM_047418970.1:c.996G>A, XM_047418973.1:c.969G>A, XM_047418972.1:c.969G>A, XM_047418975.1:c.957G>A, XM_047418974.1:c.957G>A, XM_047418980.1:c.930G>A, XM_047418971.1:c.996G>A, XM_047418978.1:c.930G>A, XM_047418969.1:c.996G>A, XM_047418977.1:c.957G>A, XM_047418976.1:c.957G>A, NM_001318792.1:c.969G>A, XM_047418979.1:c.930G>A

          5.

          rs1480751593 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            6:44147441 (GRCh38)
            6:44115178 (GRCh37)
            Canonical SPDI:
            NC_000006.12:44147440:A:G
            Gene:
            POLR1C (Varview), TMEM63B (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0.000071/1 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            NC_000006.12:g.44147441A>G, NC_000006.11:g.44115178A>G, XM_005249213.5:c.928A>G, XM_005249213.4:c.928A>G, XM_005249213.3:c.928A>G, XM_005249213.2:c.928A>G, XM_005249213.1:c.928A>G, NM_018426.3:c.928A>G, NM_018426.2:c.928A>G, NM_018426.1:c.928A>G, XR_001743506.3:n.1255A>G, XR_001743506.2:n.1457A>G, XR_001743506.1:n.1457A>G, XM_017010999.2:c.955A>G, XM_017010999.1:c.955A>G, XM_005249217.2:c.928A>G, XM_005249217.1:c.928A>G, XM_017011002.2:c.889A>G, XM_017011002.1:c.889A>G, XM_006715135.2:c.928A>G, XM_006715135.1:c.928A>G, XM_024446482.2:c.889A>G, XM_024446482.1:c.889A>G, XM_017011001.2:c.889A>G, XM_017011001.1:c.889A>G, XM_047418970.1:c.955A>G, XM_047418973.1:c.928A>G, XM_047418972.1:c.928A>G, XM_047418975.1:c.916A>G, XM_047418974.1:c.916A>G, XM_047418980.1:c.889A>G, XM_047418971.1:c.955A>G, XM_047418978.1:c.889A>G, XM_047418969.1:c.955A>G, XM_047418977.1:c.916A>G, XM_047418976.1:c.916A>G, NM_001318792.1:c.928A>G, XM_047418979.1:c.889A>G, XP_005249270.1:p.Met310Val, NP_060896.1:p.Met310Val, XP_016866488.1:p.Met319Val, XP_005249274.1:p.Met310Val, XP_016866491.1:p.Met297Val, XP_006715198.1:p.Met310Val, XP_024302250.1:p.Met297Val, XP_016866490.1:p.Met297Val, XP_047274926.1:p.Met319Val, XP_047274929.1:p.Met310Val, XP_047274928.1:p.Met310Val, XP_047274931.1:p.Met306Val, XP_047274930.1:p.Met306Val, XP_047274936.1:p.Met297Val, XP_047274927.1:p.Met319Val, XP_047274934.1:p.Met297Val, XP_047274925.1:p.Met319Val, XP_047274933.1:p.Met306Val, XP_047274932.1:p.Met306Val, NP_001305721.1:p.Met310Val, XP_047274935.1:p.Met297Val

            6.

            rs1479577703 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              6:44139513 (GRCh38)
              6:44107250 (GRCh37)
              Canonical SPDI:
              NC_000006.12:44139512:C:G,NC_000006.12:44139512:C:T
              Gene:
              POLR1C (Varview), TMEM63B (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant
              Validated:
              by frequency,by cluster
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000006.12:g.44139513C>G, NC_000006.12:g.44139513C>T, NC_000006.11:g.44107250C>G, NC_000006.11:g.44107250C>T, XM_005249213.5:c.454C>G, XM_005249213.5:c.454C>T, XM_005249213.4:c.454C>G, XM_005249213.4:c.454C>T, XM_005249213.3:c.454C>G, XM_005249213.3:c.454C>T, XM_005249213.2:c.454C>G, XM_005249213.2:c.454C>T, XM_005249213.1:c.454C>G, XM_005249213.1:c.454C>T, NM_018426.3:c.454C>G, NM_018426.3:c.454C>T, NM_018426.2:c.454C>G, NM_018426.2:c.454C>T, NM_018426.1:c.454C>G, NM_018426.1:c.454C>T, XR_001743506.3:n.781C>G, XR_001743506.3:n.781C>T, XR_001743506.2:n.983C>G, XR_001743506.2:n.983C>T, XR_001743506.1:n.983C>G, XR_001743506.1:n.983C>T, XM_017010999.2:c.481C>G, XM_017010999.2:c.481C>T, XM_017010999.1:c.481C>G, XM_017010999.1:c.481C>T, XM_005249217.2:c.454C>G, XM_005249217.2:c.454C>T, XM_005249217.1:c.454C>G, XM_005249217.1:c.454C>T, XM_017011002.2:c.415C>G, XM_017011002.2:c.415C>T, XM_017011002.1:c.415C>G, XM_017011002.1:c.415C>T, XM_006715135.2:c.454C>G, XM_006715135.2:c.454C>T, XM_006715135.1:c.454C>G, XM_006715135.1:c.454C>T, XM_024446482.2:c.415C>G, XM_024446482.2:c.415C>T, XM_024446482.1:c.415C>G, XM_024446482.1:c.415C>T, XM_017011001.2:c.415C>G, XM_017011001.2:c.415C>T, XM_017011001.1:c.415C>G, XM_017011001.1:c.415C>T, XM_047418970.1:c.481C>G, XM_047418970.1:c.481C>T, XM_047418973.1:c.454C>G, XM_047418973.1:c.454C>T, XM_047418972.1:c.454C>G, XM_047418972.1:c.454C>T, XM_047418975.1:c.442C>G, XM_047418975.1:c.442C>T, XM_047418974.1:c.442C>G, XM_047418974.1:c.442C>T, XM_047418980.1:c.415C>G, XM_047418980.1:c.415C>T, XM_047418971.1:c.481C>G, XM_047418971.1:c.481C>T, XM_047418978.1:c.415C>G, XM_047418978.1:c.415C>T, XM_047418969.1:c.481C>G, XM_047418969.1:c.481C>T, XM_047418977.1:c.442C>G, XM_047418977.1:c.442C>T, XM_047418976.1:c.442C>G, XM_047418976.1:c.442C>T, NM_001318792.1:c.454C>G, NM_001318792.1:c.454C>T, XM_047418979.1:c.415C>G, XM_047418979.1:c.415C>T, XP_005249270.1:p.Leu152Val, NP_060896.1:p.Leu152Val, XP_016866488.1:p.Leu161Val, XP_005249274.1:p.Leu152Val, XP_016866491.1:p.Leu139Val, XP_006715198.1:p.Leu152Val, XP_024302250.1:p.Leu139Val, XP_016866490.1:p.Leu139Val, XP_047274926.1:p.Leu161Val, XP_047274929.1:p.Leu152Val, XP_047274928.1:p.Leu152Val, XP_047274931.1:p.Leu148Val, XP_047274930.1:p.Leu148Val, XP_047274936.1:p.Leu139Val, XP_047274927.1:p.Leu161Val, XP_047274934.1:p.Leu139Val, XP_047274925.1:p.Leu161Val, XP_047274933.1:p.Leu148Val, XP_047274932.1:p.Leu148Val, NP_001305721.1:p.Leu152Val, XP_047274935.1:p.Leu139Val

              7.

              rs1478113169 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                6:44153734 (GRCh38)
                6:44121471 (GRCh37)
                Canonical SPDI:
                NC_000006.12:44153733:C:T
                Gene:
                POLR1C (Varview), TMEM63B (Varview), LOC107986599 (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000011/3 (TOPMED)
                T=0.000014/2 (GnomAD)
                HGVS:
                NC_000006.12:g.44153734C>T, NC_000006.11:g.44121471C>T, XM_005249213.5:c.2001C>T, XM_005249213.4:c.2001C>T, XM_005249213.3:c.2001C>T, XM_005249213.2:c.2001C>T, XM_005249213.1:c.2001C>T, NM_018426.3:c.2001C>T, NM_018426.2:c.2001C>T, NM_018426.1:c.2001C>T, XR_001743506.3:n.2165C>T, XR_001743506.2:n.2367C>T, XR_001743506.1:n.2367C>T, XM_017010999.2:c.2028C>T, XM_017010999.1:c.2028C>T, XM_005249217.2:c.2001C>T, XM_005249217.1:c.2001C>T, XM_017011002.2:c.1962C>T, XM_017011002.1:c.1962C>T, XM_006715135.2:c.2001C>T, XM_006715135.1:c.2001C>T, XM_024446482.2:c.1962C>T, XM_024446482.1:c.1962C>T, XM_017011001.2:c.1962C>T, XM_017011001.1:c.1962C>T, XM_047418970.1:c.2028C>T, XM_047418973.1:c.2001C>T, XM_047418972.1:c.2001C>T, XM_047418975.1:c.1989C>T, XM_047418974.1:c.1989C>T, XM_047418980.1:c.1962C>T, XM_047418971.1:c.2028C>T, XM_047418978.1:c.1962C>T, XM_047418969.1:c.2028C>T, XM_047418977.1:c.1989C>T, XM_047418976.1:c.1989C>T, NM_001318792.1:c.2001C>T, XM_047418979.1:c.1962C>T

                8.

                rs1478044589 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  6:44148307 (GRCh38)
                  6:44116044 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:44148306:A:G
                  Gene:
                  POLR1C (Varview), TMEM63B (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000006.12:g.44148307A>G, NC_000006.11:g.44116044A>G, XM_005249213.5:c.1043A>G, XM_005249213.4:c.1043A>G, XM_005249213.3:c.1043A>G, XM_005249213.2:c.1043A>G, XM_005249213.1:c.1043A>G, NM_018426.3:c.1043A>G, NM_018426.2:c.1043A>G, NM_018426.1:c.1043A>G, XR_001743506.3:n.1370A>G, XR_001743506.2:n.1572A>G, XR_001743506.1:n.1572A>G, XM_017010999.2:c.1070A>G, XM_017010999.1:c.1070A>G, XM_005249217.2:c.1043A>G, XM_005249217.1:c.1043A>G, XM_017011002.2:c.1004A>G, XM_017011002.1:c.1004A>G, XM_006715135.2:c.1043A>G, XM_006715135.1:c.1043A>G, XM_024446482.2:c.1004A>G, XM_024446482.1:c.1004A>G, XM_017011001.2:c.1004A>G, XM_017011001.1:c.1004A>G, XM_047418970.1:c.1070A>G, XM_047418973.1:c.1043A>G, XM_047418972.1:c.1043A>G, XM_047418975.1:c.1031A>G, XM_047418974.1:c.1031A>G, XM_047418980.1:c.1004A>G, XM_047418971.1:c.1070A>G, XM_047418978.1:c.1004A>G, XM_047418969.1:c.1070A>G, XM_047418977.1:c.1031A>G, XM_047418976.1:c.1031A>G, NM_001318792.1:c.1043A>G, XM_047418979.1:c.1004A>G, XP_005249270.1:p.Lys348Arg, NP_060896.1:p.Lys348Arg, XP_016866488.1:p.Lys357Arg, XP_005249274.1:p.Lys348Arg, XP_016866491.1:p.Lys335Arg, XP_006715198.1:p.Lys348Arg, XP_024302250.1:p.Lys335Arg, XP_016866490.1:p.Lys335Arg, XP_047274926.1:p.Lys357Arg, XP_047274929.1:p.Lys348Arg, XP_047274928.1:p.Lys348Arg, XP_047274931.1:p.Lys344Arg, XP_047274930.1:p.Lys344Arg, XP_047274936.1:p.Lys335Arg, XP_047274927.1:p.Lys357Arg, XP_047274934.1:p.Lys335Arg, XP_047274925.1:p.Lys357Arg, XP_047274933.1:p.Lys344Arg, XP_047274932.1:p.Lys344Arg, NP_001305721.1:p.Lys348Arg, XP_047274935.1:p.Lys335Arg

                  9.

                  rs1477157461 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    6:44148312 (GRCh38)
                    6:44116049 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:44148311:G:A
                    Gene:
                    POLR1C (Varview), TMEM63B (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000068/3 (ALFA)
                    A=0./0 (KOREAN)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000006.12:g.44148312G>A, NC_000006.11:g.44116049G>A, XM_005249213.5:c.1048G>A, XM_005249213.4:c.1048G>A, XM_005249213.3:c.1048G>A, XM_005249213.2:c.1048G>A, XM_005249213.1:c.1048G>A, NM_018426.3:c.1048G>A, NM_018426.2:c.1048G>A, NM_018426.1:c.1048G>A, XR_001743506.3:n.1375G>A, XR_001743506.2:n.1577G>A, XR_001743506.1:n.1577G>A, XM_017010999.2:c.1075G>A, XM_017010999.1:c.1075G>A, XM_005249217.2:c.1048G>A, XM_005249217.1:c.1048G>A, XM_017011002.2:c.1009G>A, XM_017011002.1:c.1009G>A, XM_006715135.2:c.1048G>A, XM_006715135.1:c.1048G>A, XM_024446482.2:c.1009G>A, XM_024446482.1:c.1009G>A, XM_017011001.2:c.1009G>A, XM_017011001.1:c.1009G>A, XM_047418970.1:c.1075G>A, XM_047418973.1:c.1048G>A, XM_047418972.1:c.1048G>A, XM_047418975.1:c.1036G>A, XM_047418974.1:c.1036G>A, XM_047418980.1:c.1009G>A, XM_047418971.1:c.1075G>A, XM_047418978.1:c.1009G>A, XM_047418969.1:c.1075G>A, XM_047418977.1:c.1036G>A, XM_047418976.1:c.1036G>A, NM_001318792.1:c.1048G>A, XM_047418979.1:c.1009G>A, XP_005249270.1:p.Glu350Lys, NP_060896.1:p.Glu350Lys, XP_016866488.1:p.Glu359Lys, XP_005249274.1:p.Glu350Lys, XP_016866491.1:p.Glu337Lys, XP_006715198.1:p.Glu350Lys, XP_024302250.1:p.Glu337Lys, XP_016866490.1:p.Glu337Lys, XP_047274926.1:p.Glu359Lys, XP_047274929.1:p.Glu350Lys, XP_047274928.1:p.Glu350Lys, XP_047274931.1:p.Glu346Lys, XP_047274930.1:p.Glu346Lys, XP_047274936.1:p.Glu337Lys, XP_047274927.1:p.Glu359Lys, XP_047274934.1:p.Glu337Lys, XP_047274925.1:p.Glu359Lys, XP_047274933.1:p.Glu346Lys, XP_047274932.1:p.Glu346Lys, NP_001305721.1:p.Glu350Lys, XP_047274935.1:p.Glu337Lys

                    10.

                    rs1475267030 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      6:44154797 (GRCh38)
                      6:44122534 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:44154796:G:A
                      Gene:
                      POLR1C (Varview), TMEM63B (Varview), LOC107986599 (Varview)
                      Functional Consequence:
                      missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000006.12:g.44154797G>A, NC_000006.11:g.44122534G>A, XM_005249213.5:c.2413G>A, XM_005249213.4:c.2413G>A, XM_005249213.3:c.2413G>A, XM_005249213.2:c.2413G>A, XM_005249213.1:c.2413G>A, NM_018426.3:c.2413G>A, NM_018426.2:c.2413G>A, NM_018426.1:c.2413G>A, XM_017010999.2:c.2440G>A, XM_017010999.1:c.2440G>A, XM_005249217.2:c.2413G>A, XM_005249217.1:c.2413G>A, XM_017011002.2:c.2374G>A, XM_017011002.1:c.2374G>A, XM_006715135.2:c.2413G>A, XM_006715135.1:c.2413G>A, XM_024446482.2:c.2374G>A, XM_024446482.1:c.2374G>A, XM_017011001.2:c.2374G>A, XM_017011001.1:c.2374G>A, XM_047418970.1:c.2440G>A, XM_047418973.1:c.2413G>A, XM_047418972.1:c.2413G>A, XM_047418975.1:c.2401G>A, XM_047418974.1:c.2401G>A, XM_047418980.1:c.2374G>A, XM_047418971.1:c.2440G>A, XM_047418978.1:c.2374G>A, XM_047418969.1:c.2440G>A, XM_047418977.1:c.2401G>A, XM_047418976.1:c.2401G>A, NM_001318792.1:c.2413G>A, XM_047418979.1:c.2374G>A, XP_005249270.1:p.Glu805Lys, NP_060896.1:p.Glu805Lys, XP_016866488.1:p.Glu814Lys, XP_005249274.1:p.Glu805Lys, XP_016866491.1:p.Glu792Lys, XP_006715198.1:p.Glu805Lys, XP_024302250.1:p.Glu792Lys, XP_016866490.1:p.Glu792Lys, XP_047274926.1:p.Glu814Lys, XP_047274929.1:p.Glu805Lys, XP_047274928.1:p.Glu805Lys, XP_047274931.1:p.Glu801Lys, XP_047274930.1:p.Glu801Lys, XP_047274936.1:p.Glu792Lys, XP_047274927.1:p.Glu814Lys, XP_047274934.1:p.Glu792Lys, XP_047274925.1:p.Glu814Lys, XP_047274933.1:p.Glu801Lys, XP_047274932.1:p.Glu801Lys, NP_001305721.1:p.Glu805Lys, XP_047274935.1:p.Glu792Lys

                      11.

                      rs1473689166 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        6:44154107 (GRCh38)
                        6:44121844 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:44154106:G:T
                        Gene:
                        POLR1C (Varview), TMEM63B (Varview), LOC107986599 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000006.12:g.44154107G>T, NC_000006.11:g.44121844G>T, XM_005249213.5:c.2145G>T, XM_005249213.4:c.2145G>T, XM_005249213.3:c.2145G>T, XM_005249213.2:c.2145G>T, XM_005249213.1:c.2145G>T, NM_018426.3:c.2145G>T, NM_018426.2:c.2145G>T, NM_018426.1:c.2145G>T, XM_017010999.2:c.2172G>T, XM_017010999.1:c.2172G>T, XM_005249217.2:c.2145G>T, XM_005249217.1:c.2145G>T, XM_017011002.2:c.2106G>T, XM_017011002.1:c.2106G>T, XM_006715135.2:c.2145G>T, XM_006715135.1:c.2145G>T, XM_024446482.2:c.2106G>T, XM_024446482.1:c.2106G>T, XM_017011001.2:c.2106G>T, XM_017011001.1:c.2106G>T, XM_047418970.1:c.2172G>T, XM_047418973.1:c.2145G>T, XM_047418972.1:c.2145G>T, XM_047418975.1:c.2133G>T, XM_047418974.1:c.2133G>T, XM_047418980.1:c.2106G>T, XM_047418971.1:c.2172G>T, XM_047418978.1:c.2106G>T, XM_047418969.1:c.2172G>T, XM_047418977.1:c.2133G>T, XM_047418976.1:c.2133G>T, NM_001318792.1:c.2145G>T, XM_047418979.1:c.2106G>T

                        12.

                        rs1473170611 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          6:44148927 (GRCh38)
                          6:44116664 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:44148926:G:A
                          Gene:
                          POLR1C (Varview), TMEM63B (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,intron_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_000006.12:g.44148927G>A, NC_000006.11:g.44116664G>A, XM_005249213.5:c.1395G>A, XM_005249213.4:c.1395G>A, XM_005249213.3:c.1395G>A, XM_005249213.2:c.1395G>A, XM_005249213.1:c.1395G>A, NM_018426.3:c.1395G>A, NM_018426.2:c.1395G>A, NM_018426.1:c.1395G>A, XR_001743506.3:n.1722G>A, XR_001743506.2:n.1924G>A, XR_001743506.1:n.1924G>A, XM_017010999.2:c.1422G>A, XM_017010999.1:c.1422G>A, XM_005249217.2:c.1395G>A, XM_005249217.1:c.1395G>A, XM_017011002.2:c.1356G>A, XM_017011002.1:c.1356G>A, XM_006715135.2:c.1395G>A, XM_006715135.1:c.1395G>A, XM_024446482.2:c.1356G>A, XM_024446482.1:c.1356G>A, XM_017011001.2:c.1356G>A, XM_017011001.1:c.1356G>A, XM_047418970.1:c.1422G>A, XM_047418973.1:c.1395G>A, XM_047418972.1:c.1395G>A, XM_047418975.1:c.1383G>A, XM_047418974.1:c.1383G>A, XM_047418980.1:c.1356G>A, XM_047418971.1:c.1422G>A, XM_047418978.1:c.1356G>A, XM_047418969.1:c.1422G>A, XM_047418977.1:c.1383G>A, XM_047418976.1:c.1383G>A, NM_001318792.1:c.1395G>A, XM_047418979.1:c.1356G>A

                          13.

                          rs1470171338 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            6:44151930 (GRCh38)
                            6:44119667 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:44151929:G:A
                            Gene:
                            POLR1C (Varview), TMEM63B (Varview)
                            Functional Consequence:
                            synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000006.12:g.44151930G>A, NC_000006.11:g.44119667G>A, XM_005249213.5:c.1758G>A, XM_005249213.4:c.1758G>A, XM_005249213.3:c.1758G>A, XM_005249213.2:c.1758G>A, XM_005249213.1:c.1758G>A, NM_018426.3:c.1758G>A, NM_018426.2:c.1758G>A, NM_018426.1:c.1758G>A, XM_017010999.2:c.1785G>A, XM_017010999.1:c.1785G>A, XM_005249217.2:c.1758G>A, XM_005249217.1:c.1758G>A, XM_017011002.2:c.1719G>A, XM_017011002.1:c.1719G>A, XM_006715135.2:c.1758G>A, XM_006715135.1:c.1758G>A, XM_024446482.2:c.1719G>A, XM_024446482.1:c.1719G>A, XM_017011001.2:c.1719G>A, XM_017011001.1:c.1719G>A, XM_047418970.1:c.1785G>A, XM_047418973.1:c.1758G>A, XM_047418972.1:c.1758G>A, XM_047418975.1:c.1746G>A, XM_047418974.1:c.1746G>A, XM_047418980.1:c.1719G>A, XM_047418971.1:c.1785G>A, XM_047418978.1:c.1719G>A, XM_047418969.1:c.1785G>A, XM_047418977.1:c.1746G>A, XM_047418976.1:c.1746G>A, NM_001318792.1:c.1758G>A, XM_047418979.1:c.1719G>A

                            14.

                            rs1468561766 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              6:44152000 (GRCh38)
                              6:44119737 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:44151999:G:A
                              Gene:
                              POLR1C (Varview), TMEM63B (Varview)
                              Functional Consequence:
                              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000006.12:g.44152000G>A, NC_000006.11:g.44119737G>A, XM_005249213.5:c.1828G>A, XM_005249213.4:c.1828G>A, XM_005249213.3:c.1828G>A, XM_005249213.2:c.1828G>A, XM_005249213.1:c.1828G>A, NM_018426.3:c.1828G>A, NM_018426.2:c.1828G>A, NM_018426.1:c.1828G>A, XM_017010999.2:c.1855G>A, XM_017010999.1:c.1855G>A, XM_005249217.2:c.1828G>A, XM_005249217.1:c.1828G>A, XM_017011002.2:c.1789G>A, XM_017011002.1:c.1789G>A, XM_006715135.2:c.1828G>A, XM_006715135.1:c.1828G>A, XM_024446482.2:c.1789G>A, XM_024446482.1:c.1789G>A, XM_017011001.2:c.1789G>A, XM_017011001.1:c.1789G>A, XM_047418970.1:c.1855G>A, XM_047418973.1:c.1828G>A, XM_047418972.1:c.1828G>A, XM_047418975.1:c.1816G>A, XM_047418974.1:c.1816G>A, XM_047418980.1:c.1789G>A, XM_047418971.1:c.1855G>A, XM_047418978.1:c.1789G>A, XM_047418969.1:c.1855G>A, XM_047418977.1:c.1816G>A, XM_047418976.1:c.1816G>A, NM_001318792.1:c.1828G>A, XM_047418979.1:c.1789G>A, XP_005249270.1:p.Val610Met, NP_060896.1:p.Val610Met, XP_016866488.1:p.Val619Met, XP_005249274.1:p.Val610Met, XP_016866491.1:p.Val597Met, XP_006715198.1:p.Val610Met, XP_024302250.1:p.Val597Met, XP_016866490.1:p.Val597Met, XP_047274926.1:p.Val619Met, XP_047274929.1:p.Val610Met, XP_047274928.1:p.Val610Met, XP_047274931.1:p.Val606Met, XP_047274930.1:p.Val606Met, XP_047274936.1:p.Val597Met, XP_047274927.1:p.Val619Met, XP_047274934.1:p.Val597Met, XP_047274925.1:p.Val619Met, XP_047274933.1:p.Val606Met, XP_047274932.1:p.Val606Met, NP_001305721.1:p.Val610Met, XP_047274935.1:p.Val597Met

                              15.

                              rs1467523190 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                6:44154420 (GRCh38)
                                6:44122157 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:44154419:C:T
                                Gene:
                                POLR1C (Varview), TMEM63B (Varview), LOC107986599 (Varview)
                                Functional Consequence:
                                missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000006.12:g.44154420C>T, NC_000006.11:g.44122157C>T, XM_005249213.5:c.2282C>T, XM_005249213.4:c.2282C>T, XM_005249213.3:c.2282C>T, XM_005249213.2:c.2282C>T, XM_005249213.1:c.2282C>T, NM_018426.3:c.2282C>T, NM_018426.2:c.2282C>T, NM_018426.1:c.2282C>T, XM_017010999.2:c.2309C>T, XM_017010999.1:c.2309C>T, XM_005249217.2:c.2282C>T, XM_005249217.1:c.2282C>T, XM_017011002.2:c.2243C>T, XM_017011002.1:c.2243C>T, XM_006715135.2:c.2282C>T, XM_006715135.1:c.2282C>T, XM_024446482.2:c.2243C>T, XM_024446482.1:c.2243C>T, XM_017011001.2:c.2243C>T, XM_017011001.1:c.2243C>T, XM_047418970.1:c.2309C>T, XM_047418973.1:c.2282C>T, XM_047418972.1:c.2282C>T, XM_047418975.1:c.2270C>T, XM_047418974.1:c.2270C>T, XM_047418980.1:c.2243C>T, XM_047418971.1:c.2309C>T, XM_047418978.1:c.2243C>T, XM_047418969.1:c.2309C>T, XM_047418977.1:c.2270C>T, XM_047418976.1:c.2270C>T, NM_001318792.1:c.2282C>T, XM_047418979.1:c.2243C>T, XP_005249270.1:p.Thr761Ile, NP_060896.1:p.Thr761Ile, XP_016866488.1:p.Thr770Ile, XP_005249274.1:p.Thr761Ile, XP_016866491.1:p.Thr748Ile, XP_006715198.1:p.Thr761Ile, XP_024302250.1:p.Thr748Ile, XP_016866490.1:p.Thr748Ile, XP_047274926.1:p.Thr770Ile, XP_047274929.1:p.Thr761Ile, XP_047274928.1:p.Thr761Ile, XP_047274931.1:p.Thr757Ile, XP_047274930.1:p.Thr757Ile, XP_047274936.1:p.Thr748Ile, XP_047274927.1:p.Thr770Ile, XP_047274934.1:p.Thr748Ile, XP_047274925.1:p.Thr770Ile, XP_047274933.1:p.Thr757Ile, XP_047274932.1:p.Thr757Ile, NP_001305721.1:p.Thr761Ile, XP_047274935.1:p.Thr748Ile

                                16.

                                rs1466298108 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  6:44134629 (GRCh38)
                                  6:44102366 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:44134628:C:T
                                  Gene:
                                  POLR1C (Varview), TMEM63B (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000006.12:g.44134629C>T, NC_000006.11:g.44102366C>T, XM_005249213.5:c.45C>T, XM_005249213.4:c.45C>T, XM_005249213.3:c.45C>T, XM_005249213.2:c.45C>T, XM_005249213.1:c.45C>T, NM_018426.3:c.45C>T, NM_018426.2:c.45C>T, NM_018426.1:c.45C>T, XR_001743506.3:n.372C>T, XR_001743506.2:n.574C>T, XR_001743506.1:n.574C>T, XM_017010999.2:c.72C>T, XM_017010999.1:c.72C>T, XM_005249217.2:c.45C>T, XM_005249217.1:c.45C>T, XM_017011002.2:c.45C>T, XM_017011002.1:c.45C>T, XM_006715135.2:c.45C>T, XM_006715135.1:c.45C>T, XM_024446482.2:c.45C>T, XM_024446482.1:c.45C>T, XM_017011001.2:c.45C>T, XM_017011001.1:c.45C>T, XM_047418970.1:c.72C>T, XM_047418973.1:c.45C>T, XM_047418972.1:c.45C>T, XM_047418975.1:c.72C>T, XM_047418974.1:c.72C>T, XM_047418980.1:c.45C>T, XM_047418971.1:c.72C>T, XM_047418978.1:c.45C>T, XM_047418969.1:c.72C>T, XM_047418977.1:c.72C>T, XM_047418976.1:c.72C>T, NM_001318792.1:c.45C>T, XM_047418979.1:c.45C>T

                                  17.

                                  rs1459697568 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    6:44151892 (GRCh38)
                                    6:44119629 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:44151891:A:G
                                    Gene:
                                    POLR1C (Varview), TMEM63B (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_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_000006.12:g.44151892A>G, NC_000006.11:g.44119629A>G, XM_005249213.5:c.1720A>G, XM_005249213.4:c.1720A>G, XM_005249213.3:c.1720A>G, XM_005249213.2:c.1720A>G, XM_005249213.1:c.1720A>G, NM_018426.3:c.1720A>G, NM_018426.2:c.1720A>G, NM_018426.1:c.1720A>G, XM_017010999.2:c.1747A>G, XM_017010999.1:c.1747A>G, XM_005249217.2:c.1720A>G, XM_005249217.1:c.1720A>G, XM_017011002.2:c.1681A>G, XM_017011002.1:c.1681A>G, XM_006715135.2:c.1720A>G, XM_006715135.1:c.1720A>G, XM_024446482.2:c.1681A>G, XM_024446482.1:c.1681A>G, XM_017011001.2:c.1681A>G, XM_017011001.1:c.1681A>G, XM_047418970.1:c.1747A>G, XM_047418973.1:c.1720A>G, XM_047418972.1:c.1720A>G, XM_047418975.1:c.1708A>G, XM_047418974.1:c.1708A>G, XM_047418980.1:c.1681A>G, XM_047418971.1:c.1747A>G, XM_047418978.1:c.1681A>G, XM_047418969.1:c.1747A>G, XM_047418977.1:c.1708A>G, XM_047418976.1:c.1708A>G, NM_001318792.1:c.1720A>G, XM_047418979.1:c.1681A>G, XP_005249270.1:p.Ile574Val, NP_060896.1:p.Ile574Val, XP_016866488.1:p.Ile583Val, XP_005249274.1:p.Ile574Val, XP_016866491.1:p.Ile561Val, XP_006715198.1:p.Ile574Val, XP_024302250.1:p.Ile561Val, XP_016866490.1:p.Ile561Val, XP_047274926.1:p.Ile583Val, XP_047274929.1:p.Ile574Val, XP_047274928.1:p.Ile574Val, XP_047274931.1:p.Ile570Val, XP_047274930.1:p.Ile570Val, XP_047274936.1:p.Ile561Val, XP_047274927.1:p.Ile583Val, XP_047274934.1:p.Ile561Val, XP_047274925.1:p.Ile583Val, XP_047274933.1:p.Ile570Val, XP_047274932.1:p.Ile570Val, NP_001305721.1:p.Ile574Val, XP_047274935.1:p.Ile561Val

                                    18.

                                    rs1458912469 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      6:44139603 (GRCh38)
                                      6:44107340 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:44139602:C:T
                                      Gene:
                                      POLR1C (Varview), TMEM63B (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000006.12:g.44139603C>T, NC_000006.11:g.44107340C>T, XM_005249213.5:c.544C>T, XM_005249213.4:c.544C>T, XM_005249213.3:c.544C>T, XM_005249213.2:c.544C>T, XM_005249213.1:c.544C>T, NM_018426.3:c.544C>T, NM_018426.2:c.544C>T, NM_018426.1:c.544C>T, XR_001743506.3:n.871C>T, XR_001743506.2:n.1073C>T, XR_001743506.1:n.1073C>T, XM_017010999.2:c.571C>T, XM_017010999.1:c.571C>T, XM_005249217.2:c.544C>T, XM_005249217.1:c.544C>T, XM_017011002.2:c.505C>T, XM_017011002.1:c.505C>T, XM_006715135.2:c.544C>T, XM_006715135.1:c.544C>T, XM_024446482.2:c.505C>T, XM_024446482.1:c.505C>T, XM_017011001.2:c.505C>T, XM_017011001.1:c.505C>T, XM_047418970.1:c.571C>T, XM_047418973.1:c.544C>T, XM_047418972.1:c.544C>T, XM_047418975.1:c.532C>T, XM_047418974.1:c.532C>T, XM_047418980.1:c.505C>T, XM_047418971.1:c.571C>T, XM_047418978.1:c.505C>T, XM_047418969.1:c.571C>T, XM_047418977.1:c.532C>T, XM_047418976.1:c.532C>T, NM_001318792.1:c.544C>T, XM_047418979.1:c.505C>T

                                      19.

                                      rs1458211650 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        6:44150240 (GRCh38)
                                        6:44117977 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:44150239:A:G
                                        Gene:
                                        POLR1C (Varview), TMEM63B (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,intron_variant,genic_downstream_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_000006.12:g.44150240A>G, NC_000006.11:g.44117977A>G, XM_005249213.5:c.1537A>G, XM_005249213.4:c.1537A>G, XM_005249213.3:c.1537A>G, XM_005249213.2:c.1537A>G, XM_005249213.1:c.1537A>G, NM_018426.3:c.1537A>G, NM_018426.2:c.1537A>G, NM_018426.1:c.1537A>G, XR_001743506.3:n.1864A>G, XR_001743506.2:n.2066A>G, XR_001743506.1:n.2066A>G, XM_017010999.2:c.1564A>G, XM_017010999.1:c.1564A>G, XM_005249217.2:c.1537A>G, XM_005249217.1:c.1537A>G, XM_017011002.2:c.1498A>G, XM_017011002.1:c.1498A>G, XM_006715135.2:c.1537A>G, XM_006715135.1:c.1537A>G, XM_024446482.2:c.1498A>G, XM_024446482.1:c.1498A>G, XM_017011001.2:c.1498A>G, XM_017011001.1:c.1498A>G, XM_047418970.1:c.1564A>G, XM_047418973.1:c.1537A>G, XM_047418972.1:c.1537A>G, XM_047418975.1:c.1525A>G, XM_047418974.1:c.1525A>G, XM_047418980.1:c.1498A>G, XM_047418971.1:c.1564A>G, XM_047418978.1:c.1498A>G, XM_047418969.1:c.1564A>G, XM_047418977.1:c.1525A>G, XM_047418976.1:c.1525A>G, NM_001318792.1:c.1537A>G, XM_047418979.1:c.1498A>G, XP_005249270.1:p.Thr513Ala, NP_060896.1:p.Thr513Ala, XP_016866488.1:p.Thr522Ala, XP_005249274.1:p.Thr513Ala, XP_016866491.1:p.Thr500Ala, XP_006715198.1:p.Thr513Ala, XP_024302250.1:p.Thr500Ala, XP_016866490.1:p.Thr500Ala, XP_047274926.1:p.Thr522Ala, XP_047274929.1:p.Thr513Ala, XP_047274928.1:p.Thr513Ala, XP_047274931.1:p.Thr509Ala, XP_047274930.1:p.Thr509Ala, XP_047274936.1:p.Thr500Ala, XP_047274927.1:p.Thr522Ala, XP_047274934.1:p.Thr500Ala, XP_047274925.1:p.Thr522Ala, XP_047274933.1:p.Thr509Ala, XP_047274932.1:p.Thr509Ala, NP_001305721.1:p.Thr513Ala, XP_047274935.1:p.Thr500Ala

                                        20.

                                        rs1457933551 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          6:44154127 (GRCh38)
                                          6:44121864 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:44154126:T:C
                                          Gene:
                                          POLR1C (Varview), TMEM63B (Varview), LOC107986599 (Varview)
                                          Functional Consequence:
                                          downstream_transcript_variant,missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000006.12:g.44154127T>C, NC_000006.11:g.44121864T>C, XM_005249213.5:c.2165T>C, XM_005249213.4:c.2165T>C, XM_005249213.3:c.2165T>C, XM_005249213.2:c.2165T>C, XM_005249213.1:c.2165T>C, NM_018426.3:c.2165T>C, NM_018426.2:c.2165T>C, NM_018426.1:c.2165T>C, XM_017010999.2:c.2192T>C, XM_017010999.1:c.2192T>C, XM_005249217.2:c.2165T>C, XM_005249217.1:c.2165T>C, XM_017011002.2:c.2126T>C, XM_017011002.1:c.2126T>C, XM_006715135.2:c.2165T>C, XM_006715135.1:c.2165T>C, XM_024446482.2:c.2126T>C, XM_024446482.1:c.2126T>C, XM_017011001.2:c.2126T>C, XM_017011001.1:c.2126T>C, XM_047418970.1:c.2192T>C, XM_047418973.1:c.2165T>C, XM_047418972.1:c.2165T>C, XM_047418975.1:c.2153T>C, XM_047418974.1:c.2153T>C, XM_047418980.1:c.2126T>C, XM_047418971.1:c.2192T>C, XM_047418978.1:c.2126T>C, XM_047418969.1:c.2192T>C, XM_047418977.1:c.2153T>C, XM_047418976.1:c.2153T>C, NM_001318792.1:c.2165T>C, XM_047418979.1:c.2126T>C, XP_005249270.1:p.Val722Ala, NP_060896.1:p.Val722Ala, XP_016866488.1:p.Val731Ala, XP_005249274.1:p.Val722Ala, XP_016866491.1:p.Val709Ala, XP_006715198.1:p.Val722Ala, XP_024302250.1:p.Val709Ala, XP_016866490.1:p.Val709Ala, XP_047274926.1:p.Val731Ala, XP_047274929.1:p.Val722Ala, XP_047274928.1:p.Val722Ala, XP_047274931.1:p.Val718Ala, XP_047274930.1:p.Val718Ala, XP_047274936.1:p.Val709Ala, XP_047274927.1:p.Val731Ala, XP_047274934.1:p.Val709Ala, XP_047274925.1:p.Val731Ala, XP_047274933.1:p.Val718Ala, XP_047274932.1:p.Val718Ala, NP_001305721.1:p.Val722Ala, XP_047274935.1:p.Val709Ala

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