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Items: 1 to 20 of 1583

1.

rs1490950935 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    10:102140368 (GRCh38)
    10:103900125 (GRCh37)
    Canonical SPDI:
    NC_000010.11:102140367:A:G
    Gene:
    PPRC1 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000010.11:g.102140368A>G, NC_000010.10:g.103900125A>G, NG_047132.1:g.12375A>G, NM_015062.5:c.1860A>G, NM_015062.4:c.1860A>G, NM_015062.3:c.1860A>G, NM_001288728.2:c.1500A>G, NM_001288728.1:c.1500A>G, NM_001288727.2:c.1860A>G, NM_001288727.1:c.1860A>G, XM_006717731.4:c.1860A>G, XM_006717731.3:c.1860A>G, XM_006717731.2:c.1860A>G, XM_006717731.1:c.1860A>G, XM_011539549.3:c.1860A>G, XM_011539549.2:c.1860A>G, XM_011539549.1:c.1860A>G, XM_011539551.3:c.1611A>G, XM_011539551.2:c.1611A>G, XM_011539551.1:c.1611A>G, XM_024447914.2:c.1623A>G, XM_024447914.1:c.1623A>G, XM_024447915.2:c.2019A>G, XM_024447915.1:c.1623A>G, XM_024447917.2:c.1623A>G, XM_024447917.1:c.1623A>G, XM_017015982.2:c.1860A>G, XM_017015982.1:c.1860A>G, XM_024447916.2:c.1623A>G, XM_024447916.1:c.1623A>G, XM_017015983.2:c.1860A>G, XM_017015983.1:c.1860A>G, XM_017015984.2:c.1860A>G, XM_017015984.1:c.1860A>G, XM_047424878.1:c.1623A>G, XM_047424879.1:c.1623A>G, XM_047424876.1:c.1860A>G, XM_047424877.1:c.1860A>G, XM_047424880.1:c.1611A>G, XM_047424883.1:c.1374A>G, XM_047424884.1:c.1374A>G, XM_047424881.1:c.1611A>G, XM_047424882.1:c.1611A>G, XM_047424885.1:c.2019A>G, XM_047424886.1:c.1611A>G, XM_047424887.1:c.1860A>G

    2.

    rs1490060658 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      10:102139495 (GRCh38)
      10:103899252 (GRCh37)
      Canonical SPDI:
      NC_000010.11:102139494:G:A
      Gene:
      PPRC1 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      HGVS:
      NC_000010.11:g.102139495G>A, NC_000010.10:g.103899252G>A, NG_047132.1:g.11502G>A, NM_015062.5:c.987G>A, NM_015062.4:c.987G>A, NM_015062.3:c.987G>A, NM_001288728.2:c.627G>A, NM_001288728.1:c.627G>A, NM_001288727.2:c.987G>A, NM_001288727.1:c.987G>A, XM_006717731.4:c.987G>A, XM_006717731.3:c.987G>A, XM_006717731.2:c.987G>A, XM_006717731.1:c.987G>A, XM_011539549.3:c.987G>A, XM_011539549.2:c.987G>A, XM_011539549.1:c.987G>A, XM_011539551.3:c.738G>A, XM_011539551.2:c.738G>A, XM_011539551.1:c.738G>A, XM_024447914.2:c.750G>A, XM_024447914.1:c.750G>A, XM_024447915.2:c.1146G>A, XM_024447915.1:c.750G>A, XM_024447917.2:c.750G>A, XM_024447917.1:c.750G>A, XM_017015982.2:c.987G>A, XM_017015982.1:c.987G>A, XM_024447916.2:c.750G>A, XM_024447916.1:c.750G>A, XM_017015983.2:c.987G>A, XM_017015983.1:c.987G>A, XM_017015984.2:c.987G>A, XM_017015984.1:c.987G>A, XM_047424878.1:c.750G>A, XM_047424879.1:c.750G>A, XM_047424876.1:c.987G>A, XM_047424877.1:c.987G>A, XM_047424880.1:c.738G>A, XM_047424883.1:c.501G>A, XM_047424884.1:c.501G>A, XM_047424881.1:c.738G>A, XM_047424882.1:c.738G>A, XM_047424885.1:c.1146G>A, XM_047424886.1:c.738G>A, XM_047424887.1:c.987G>A

      3.

      rs1488553351 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        10:102140105 (GRCh38)
        10:103899862 (GRCh37)
        Canonical SPDI:
        NC_000010.11:102140104:G:C
        Gene:
        PPRC1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000010.11:g.102140105G>C, NC_000010.10:g.103899862G>C, NG_047132.1:g.12112G>C, NM_015062.5:c.1597G>C, NM_015062.4:c.1597G>C, NM_015062.3:c.1597G>C, NM_001288728.2:c.1237G>C, NM_001288728.1:c.1237G>C, NM_001288727.2:c.1597G>C, NM_001288727.1:c.1597G>C, XM_006717731.4:c.1597G>C, XM_006717731.3:c.1597G>C, XM_006717731.2:c.1597G>C, XM_006717731.1:c.1597G>C, XM_011539549.3:c.1597G>C, XM_011539549.2:c.1597G>C, XM_011539549.1:c.1597G>C, XM_011539551.3:c.1348G>C, XM_011539551.2:c.1348G>C, XM_011539551.1:c.1348G>C, XM_024447914.2:c.1360G>C, XM_024447914.1:c.1360G>C, XM_024447915.2:c.1756G>C, XM_024447915.1:c.1360G>C, XM_024447917.2:c.1360G>C, XM_024447917.1:c.1360G>C, XM_017015982.2:c.1597G>C, XM_017015982.1:c.1597G>C, XM_024447916.2:c.1360G>C, XM_024447916.1:c.1360G>C, XM_017015983.2:c.1597G>C, XM_017015983.1:c.1597G>C, XM_017015984.2:c.1597G>C, XM_017015984.1:c.1597G>C, XM_047424878.1:c.1360G>C, XM_047424879.1:c.1360G>C, XM_047424876.1:c.1597G>C, XM_047424877.1:c.1597G>C, XM_047424880.1:c.1348G>C, XM_047424883.1:c.1111G>C, XM_047424884.1:c.1111G>C, XM_047424881.1:c.1348G>C, XM_047424882.1:c.1348G>C, XM_047424885.1:c.1756G>C, XM_047424886.1:c.1348G>C, XM_047424887.1:c.1597G>C, NP_055877.3:p.Glu533Gln, NP_001275657.1:p.Glu413Gln, NP_001275656.1:p.Glu533Gln, XP_006717794.1:p.Glu533Gln, XP_011537851.1:p.Glu533Gln, XP_011537853.1:p.Glu450Gln, XP_024303682.1:p.Glu454Gln, XP_024303683.2:p.Glu586Gln, XP_024303685.1:p.Glu454Gln, XP_016871471.1:p.Glu533Gln, XP_024303684.1:p.Glu454Gln, XP_016871472.1:p.Glu533Gln, XP_016871473.1:p.Glu533Gln, XP_047280834.1:p.Glu454Gln, XP_047280835.1:p.Glu454Gln, XP_047280832.1:p.Glu533Gln, XP_047280833.1:p.Glu533Gln, XP_047280836.1:p.Glu450Gln, XP_047280839.1:p.Glu371Gln, XP_047280840.1:p.Glu371Gln, XP_047280837.1:p.Glu450Gln, XP_047280838.1:p.Glu450Gln, XP_047280841.1:p.Glu586Gln, XP_047280842.1:p.Glu450Gln, XP_047280843.1:p.Glu533Gln

        4.

        rs1488402580 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          10:102141767 (GRCh38)
          10:103901524 (GRCh37)
          Canonical SPDI:
          NC_000010.11:102141766:G:C
          Gene:
          PPRC1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          HGVS:
          NC_000010.11:g.102141767G>C, NC_000010.10:g.103901524G>C, NG_047132.1:g.13774G>C, NM_015062.5:c.3259G>C, NM_015062.4:c.3259G>C, NM_015062.3:c.3259G>C, NM_001288728.2:c.2899G>C, NM_001288728.1:c.2899G>C, NM_001288727.2:c.3259G>C, NM_001288727.1:c.3259G>C, XM_006717731.4:c.3259G>C, XM_006717731.3:c.3259G>C, XM_006717731.2:c.3259G>C, XM_006717731.1:c.3259G>C, XM_011539549.3:c.3259G>C, XM_011539549.2:c.3259G>C, XM_011539549.1:c.3259G>C, XM_011539551.3:c.3010G>C, XM_011539551.2:c.3010G>C, XM_011539551.1:c.3010G>C, XM_024447914.2:c.3022G>C, XM_024447914.1:c.3022G>C, XM_024447915.2:c.3418G>C, XM_024447915.1:c.3022G>C, XM_024447917.2:c.3022G>C, XM_024447917.1:c.3022G>C, XM_017015982.2:c.3259G>C, XM_017015982.1:c.3259G>C, XM_024447916.2:c.3022G>C, XM_024447916.1:c.3022G>C, XM_017015983.2:c.3259G>C, XM_017015983.1:c.3259G>C, XM_017015984.2:c.3259G>C, XM_017015984.1:c.3259G>C, XM_047424878.1:c.3022G>C, XM_047424879.1:c.3022G>C, XM_047424876.1:c.3259G>C, XM_047424877.1:c.3259G>C, XM_047424880.1:c.3010G>C, XM_047424883.1:c.2773G>C, XM_047424884.1:c.2773G>C, XM_047424881.1:c.3010G>C, XM_047424882.1:c.3010G>C, XM_047424885.1:c.3418G>C, XM_047424886.1:c.3010G>C, XM_047424887.1:c.3259G>C, NP_055877.3:p.Ala1087Pro, NP_001275657.1:p.Ala967Pro, NP_001275656.1:p.Ala1087Pro, XP_006717794.1:p.Ala1087Pro, XP_011537851.1:p.Ala1087Pro, XP_011537853.1:p.Ala1004Pro, XP_024303682.1:p.Ala1008Pro, XP_024303683.2:p.Ala1140Pro, XP_024303685.1:p.Ala1008Pro, XP_016871471.1:p.Ala1087Pro, XP_024303684.1:p.Ala1008Pro, XP_016871472.1:p.Ala1087Pro, XP_016871473.1:p.Ala1087Pro, XP_047280834.1:p.Ala1008Pro, XP_047280835.1:p.Ala1008Pro, XP_047280832.1:p.Ala1087Pro, XP_047280833.1:p.Ala1087Pro, XP_047280836.1:p.Ala1004Pro, XP_047280839.1:p.Ala925Pro, XP_047280840.1:p.Ala925Pro, XP_047280837.1:p.Ala1004Pro, XP_047280838.1:p.Ala1004Pro, XP_047280841.1:p.Ala1140Pro, XP_047280842.1:p.Ala1004Pro, XP_047280843.1:p.Ala1087Pro

          5.

          rs1487855613 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            10:102139214 (GRCh38)
            10:103898971 (GRCh37)
            Canonical SPDI:
            NC_000010.11:102139213:C:G
            Gene:
            PPRC1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            NC_000010.11:g.102139214C>G, NC_000010.10:g.103898971C>G, NG_047132.1:g.11221C>G, NM_015062.5:c.706C>G, NM_015062.4:c.706C>G, NM_015062.3:c.706C>G, NM_001288728.2:c.346C>G, NM_001288728.1:c.346C>G, NM_001288727.2:c.706C>G, NM_001288727.1:c.706C>G, XM_006717731.4:c.706C>G, XM_006717731.3:c.706C>G, XM_006717731.2:c.706C>G, XM_006717731.1:c.706C>G, XM_011539549.3:c.706C>G, XM_011539549.2:c.706C>G, XM_011539549.1:c.706C>G, XM_011539551.3:c.457C>G, XM_011539551.2:c.457C>G, XM_011539551.1:c.457C>G, XM_024447914.2:c.469C>G, XM_024447914.1:c.469C>G, XM_024447915.2:c.865C>G, XM_024447915.1:c.469C>G, XM_024447917.2:c.469C>G, XM_024447917.1:c.469C>G, XM_017015982.2:c.706C>G, XM_017015982.1:c.706C>G, XM_024447916.2:c.469C>G, XM_024447916.1:c.469C>G, XM_017015983.2:c.706C>G, XM_017015983.1:c.706C>G, XM_017015984.2:c.706C>G, XM_017015984.1:c.706C>G, XM_047424878.1:c.469C>G, XM_047424879.1:c.469C>G, XM_047424876.1:c.706C>G, XM_047424877.1:c.706C>G, XM_047424880.1:c.457C>G, XM_047424883.1:c.220C>G, XM_047424884.1:c.220C>G, XM_047424881.1:c.457C>G, XM_047424882.1:c.457C>G, XM_047424885.1:c.865C>G, XM_047424886.1:c.457C>G, XM_047424887.1:c.706C>G, NP_055877.3:p.Gln236Glu, NP_001275657.1:p.Gln116Glu, NP_001275656.1:p.Gln236Glu, XP_006717794.1:p.Gln236Glu, XP_011537851.1:p.Gln236Glu, XP_011537853.1:p.Gln153Glu, XP_024303682.1:p.Gln157Glu, XP_024303683.2:p.Gln289Glu, XP_024303685.1:p.Gln157Glu, XP_016871471.1:p.Gln236Glu, XP_024303684.1:p.Gln157Glu, XP_016871472.1:p.Gln236Glu, XP_016871473.1:p.Gln236Glu, XP_047280834.1:p.Gln157Glu, XP_047280835.1:p.Gln157Glu, XP_047280832.1:p.Gln236Glu, XP_047280833.1:p.Gln236Glu, XP_047280836.1:p.Gln153Glu, XP_047280839.1:p.Gln74Glu, XP_047280840.1:p.Gln74Glu, XP_047280837.1:p.Gln153Glu, XP_047280838.1:p.Gln153Glu, XP_047280841.1:p.Gln289Glu, XP_047280842.1:p.Gln153Glu, XP_047280843.1:p.Gln236Glu

            6.

            rs1487189990 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              10:102141817 (GRCh38)
              10:103901574 (GRCh37)
              Canonical SPDI:
              NC_000010.11:102141816:G:A
              Gene:
              PPRC1 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0.000047/1 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000010.11:g.102141817G>A, NC_000010.10:g.103901574G>A, NG_047132.1:g.13824G>A, NM_015062.5:c.3309G>A, NM_015062.4:c.3309G>A, NM_015062.3:c.3309G>A, NM_001288728.2:c.2949G>A, NM_001288728.1:c.2949G>A, NM_001288727.2:c.3309G>A, NM_001288727.1:c.3309G>A, XM_006717731.4:c.3309G>A, XM_006717731.3:c.3309G>A, XM_006717731.2:c.3309G>A, XM_006717731.1:c.3309G>A, XM_011539549.3:c.3309G>A, XM_011539549.2:c.3309G>A, XM_011539549.1:c.3309G>A, XM_011539551.3:c.3060G>A, XM_011539551.2:c.3060G>A, XM_011539551.1:c.3060G>A, XM_024447914.2:c.3072G>A, XM_024447914.1:c.3072G>A, XM_024447915.2:c.3468G>A, XM_024447915.1:c.3072G>A, XM_024447917.2:c.3072G>A, XM_024447917.1:c.3072G>A, XM_017015982.2:c.3309G>A, XM_017015982.1:c.3309G>A, XM_024447916.2:c.3072G>A, XM_024447916.1:c.3072G>A, XM_017015983.2:c.3309G>A, XM_017015983.1:c.3309G>A, XM_017015984.2:c.3309G>A, XM_017015984.1:c.3309G>A, XM_047424878.1:c.3072G>A, XM_047424879.1:c.3072G>A, XM_047424876.1:c.3309G>A, XM_047424877.1:c.3309G>A, XM_047424880.1:c.3060G>A, XM_047424883.1:c.2823G>A, XM_047424884.1:c.2823G>A, XM_047424881.1:c.3060G>A, XM_047424882.1:c.3060G>A, XM_047424885.1:c.3468G>A, XM_047424886.1:c.3060G>A, XM_047424887.1:c.3309G>A

              7.

              rs1486868747 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                10:102146883 (GRCh38)
                10:103906640 (GRCh37)
                Canonical SPDI:
                NC_000010.11:102146882:C:T
                Gene:
                PPRC1 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,intron_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000010.11:g.102146883C>T, NC_000010.10:g.103906640C>T, NG_047132.1:g.18890C>T, NM_015062.5:c.3891C>T, NM_015062.4:c.3891C>T, NM_015062.3:c.3891C>T, NM_001288728.2:c.3531C>T, NM_001288728.1:c.3531C>T, XM_011539549.3:c.3762C>T, XM_011539549.2:c.3762C>T, XM_011539549.1:c.3762C>T, XM_011539551.3:c.3642C>T, XM_011539551.2:c.3642C>T, XM_011539551.1:c.3642C>T, XM_024447914.2:c.3654C>T, XM_024447914.1:c.3654C>T, XM_024447915.2:c.4050C>T, XM_024447915.1:c.3654C>T, XM_024447917.2:c.3654C>T, XM_024447917.1:c.3654C>T, XM_017015982.2:c.3891C>T, XM_017015982.1:c.3891C>T, XM_024447916.2:c.3654C>T, XM_024447916.1:c.3654C>T, XM_017015983.2:c.3708C>T, XM_017015983.1:c.3708C>T, XM_047424878.1:c.3654C>T, XM_047424879.1:c.3654C>T, XM_047424876.1:c.3762C>T, XM_047424877.1:c.3708C>T, XM_047424880.1:c.3642C>T, XM_047424883.1:c.3405C>T, XM_047424884.1:c.3405C>T, XM_047424881.1:c.3513C>T, XM_047424882.1:c.3459C>T, XM_047424887.1:c.*127C>T

                8.

                rs1486698634 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  10:102140849 (GRCh38)
                  10:103900606 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:102140848:A:G
                  Gene:
                  PPRC1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000010.11:g.102140849A>G, NC_000010.10:g.103900606A>G, NG_047132.1:g.12856A>G, NM_015062.5:c.2341A>G, NM_015062.4:c.2341A>G, NM_015062.3:c.2341A>G, NM_001288728.2:c.1981A>G, NM_001288728.1:c.1981A>G, NM_001288727.2:c.2341A>G, NM_001288727.1:c.2341A>G, XM_006717731.4:c.2341A>G, XM_006717731.3:c.2341A>G, XM_006717731.2:c.2341A>G, XM_006717731.1:c.2341A>G, XM_011539549.3:c.2341A>G, XM_011539549.2:c.2341A>G, XM_011539549.1:c.2341A>G, XM_011539551.3:c.2092A>G, XM_011539551.2:c.2092A>G, XM_011539551.1:c.2092A>G, XM_024447914.2:c.2104A>G, XM_024447914.1:c.2104A>G, XM_024447915.2:c.2500A>G, XM_024447915.1:c.2104A>G, XM_024447917.2:c.2104A>G, XM_024447917.1:c.2104A>G, XM_017015982.2:c.2341A>G, XM_017015982.1:c.2341A>G, XM_024447916.2:c.2104A>G, XM_024447916.1:c.2104A>G, XM_017015983.2:c.2341A>G, XM_017015983.1:c.2341A>G, XM_017015984.2:c.2341A>G, XM_017015984.1:c.2341A>G, XM_047424878.1:c.2104A>G, XM_047424879.1:c.2104A>G, XM_047424876.1:c.2341A>G, XM_047424877.1:c.2341A>G, XM_047424880.1:c.2092A>G, XM_047424883.1:c.1855A>G, XM_047424884.1:c.1855A>G, XM_047424881.1:c.2092A>G, XM_047424882.1:c.2092A>G, XM_047424885.1:c.2500A>G, XM_047424886.1:c.2092A>G, XM_047424887.1:c.2341A>G, NP_055877.3:p.Ser781Gly, NP_001275657.1:p.Ser661Gly, NP_001275656.1:p.Ser781Gly, XP_006717794.1:p.Ser781Gly, XP_011537851.1:p.Ser781Gly, XP_011537853.1:p.Ser698Gly, XP_024303682.1:p.Ser702Gly, XP_024303683.2:p.Ser834Gly, XP_024303685.1:p.Ser702Gly, XP_016871471.1:p.Ser781Gly, XP_024303684.1:p.Ser702Gly, XP_016871472.1:p.Ser781Gly, XP_016871473.1:p.Ser781Gly, XP_047280834.1:p.Ser702Gly, XP_047280835.1:p.Ser702Gly, XP_047280832.1:p.Ser781Gly, XP_047280833.1:p.Ser781Gly, XP_047280836.1:p.Ser698Gly, XP_047280839.1:p.Ser619Gly, XP_047280840.1:p.Ser619Gly, XP_047280837.1:p.Ser698Gly, XP_047280838.1:p.Ser698Gly, XP_047280841.1:p.Ser834Gly, XP_047280842.1:p.Ser698Gly, XP_047280843.1:p.Ser781Gly

                  9.

                  rs1486597787 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    10:102140784 (GRCh38)
                    10:103900541 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:102140783:G:C
                    Gene:
                    PPRC1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    HGVS:
                    NC_000010.11:g.102140784G>C, NC_000010.10:g.103900541G>C, NG_047132.1:g.12791G>C, NM_015062.5:c.2276G>C, NM_015062.4:c.2276G>C, NM_015062.3:c.2276G>C, NM_001288728.2:c.1916G>C, NM_001288728.1:c.1916G>C, NM_001288727.2:c.2276G>C, NM_001288727.1:c.2276G>C, XM_006717731.4:c.2276G>C, XM_006717731.3:c.2276G>C, XM_006717731.2:c.2276G>C, XM_006717731.1:c.2276G>C, XM_011539549.3:c.2276G>C, XM_011539549.2:c.2276G>C, XM_011539549.1:c.2276G>C, XM_011539551.3:c.2027G>C, XM_011539551.2:c.2027G>C, XM_011539551.1:c.2027G>C, XM_024447914.2:c.2039G>C, XM_024447914.1:c.2039G>C, XM_024447915.2:c.2435G>C, XM_024447915.1:c.2039G>C, XM_024447917.2:c.2039G>C, XM_024447917.1:c.2039G>C, XM_017015982.2:c.2276G>C, XM_017015982.1:c.2276G>C, XM_024447916.2:c.2039G>C, XM_024447916.1:c.2039G>C, XM_017015983.2:c.2276G>C, XM_017015983.1:c.2276G>C, XM_017015984.2:c.2276G>C, XM_017015984.1:c.2276G>C, XM_047424878.1:c.2039G>C, XM_047424879.1:c.2039G>C, XM_047424876.1:c.2276G>C, XM_047424877.1:c.2276G>C, XM_047424880.1:c.2027G>C, XM_047424883.1:c.1790G>C, XM_047424884.1:c.1790G>C, XM_047424881.1:c.2027G>C, XM_047424882.1:c.2027G>C, XM_047424885.1:c.2435G>C, XM_047424886.1:c.2027G>C, XM_047424887.1:c.2276G>C, NP_055877.3:p.Arg759Pro, NP_001275657.1:p.Arg639Pro, NP_001275656.1:p.Arg759Pro, XP_006717794.1:p.Arg759Pro, XP_011537851.1:p.Arg759Pro, XP_011537853.1:p.Arg676Pro, XP_024303682.1:p.Arg680Pro, XP_024303683.2:p.Arg812Pro, XP_024303685.1:p.Arg680Pro, XP_016871471.1:p.Arg759Pro, XP_024303684.1:p.Arg680Pro, XP_016871472.1:p.Arg759Pro, XP_016871473.1:p.Arg759Pro, XP_047280834.1:p.Arg680Pro, XP_047280835.1:p.Arg680Pro, XP_047280832.1:p.Arg759Pro, XP_047280833.1:p.Arg759Pro, XP_047280836.1:p.Arg676Pro, XP_047280839.1:p.Arg597Pro, XP_047280840.1:p.Arg597Pro, XP_047280837.1:p.Arg676Pro, XP_047280838.1:p.Arg676Pro, XP_047280841.1:p.Arg812Pro, XP_047280842.1:p.Arg676Pro, XP_047280843.1:p.Arg759Pro

                    10.

                    rs1485873961 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      10:102148685 (GRCh38)
                      10:103908442 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:102148684:G:A
                      Gene:
                      PPRC1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000008/2 (GnomAD_exomes)
                      HGVS:
                      NC_000010.11:g.102148685G>A, NC_000010.10:g.103908442G>A, NG_047132.1:g.20692G>A, NM_015062.5:c.4608G>A, NM_015062.4:c.4608G>A, NM_015062.3:c.4608G>A, NM_001288728.2:c.4242G>A, NM_001288728.1:c.4242G>A, NM_001288727.2:c.3816G>A, NM_001288727.1:c.3816G>A, XM_011539549.3:c.4479G>A, XM_011539549.2:c.4479G>A, XM_011539549.1:c.4479G>A, XM_011539551.3:c.4359G>A, XM_011539551.2:c.4359G>A, XM_011539551.1:c.4359G>A, XM_024447914.2:c.4371G>A, XM_024447914.1:c.4371G>A, XM_024447915.2:c.4767G>A, XM_024447915.1:c.4371G>A, XM_024447917.2:c.4371G>A, XM_024447917.1:c.4371G>A, XM_017015982.2:c.4602G>A, XM_017015982.1:c.4602G>A, XM_024447916.2:c.4371G>A, XM_024447916.1:c.4371G>A, XM_017015983.2:c.4425G>A, XM_017015983.1:c.4425G>A, XM_017015984.2:c.3810G>A, XM_017015984.1:c.3810G>A, XM_047424878.1:c.4371G>A, XM_047424879.1:c.4371G>A, XM_047424876.1:c.4473G>A, XM_047424877.1:c.4419G>A, XM_047424880.1:c.4353G>A, XM_047424883.1:c.4122G>A, XM_047424884.1:c.4122G>A, XM_047424881.1:c.4230G>A, XM_047424882.1:c.4176G>A, XM_047424885.1:c.3975G>A, XM_047424886.1:c.3567G>A

                      11.

                      rs1485688515 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C,G [Show Flanks]
                        Chromosome:
                        10:102147032 (GRCh38)
                        10:103906789 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:102147031:T:C,NC_000010.11:102147031:T:G
                        Gene:
                        PPRC1 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,intron_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        G=0.000035/1 (TOMMO)
                        HGVS:
                        NC_000010.11:g.102147032T>C, NC_000010.11:g.102147032T>G, NC_000010.10:g.103906789T>C, NC_000010.10:g.103906789T>G, NG_047132.1:g.19039T>C, NG_047132.1:g.19039T>G, NM_015062.5:c.4040T>C, NM_015062.5:c.4040T>G, NM_015062.4:c.4040T>C, NM_015062.4:c.4040T>G, NM_015062.3:c.4040T>C, NM_015062.3:c.4040T>G, NM_001288728.2:c.3680T>C, NM_001288728.2:c.3680T>G, NM_001288728.1:c.3680T>C, NM_001288728.1:c.3680T>G, XM_011539549.3:c.3911T>C, XM_011539549.3:c.3911T>G, XM_011539549.2:c.3911T>C, XM_011539549.2:c.3911T>G, XM_011539549.1:c.3911T>C, XM_011539549.1:c.3911T>G, XM_011539551.3:c.3791T>C, XM_011539551.3:c.3791T>G, XM_011539551.2:c.3791T>C, XM_011539551.2:c.3791T>G, XM_011539551.1:c.3791T>C, XM_011539551.1:c.3791T>G, XM_024447914.2:c.3803T>C, XM_024447914.2:c.3803T>G, XM_024447914.1:c.3803T>C, XM_024447914.1:c.3803T>G, XM_024447915.2:c.4199T>C, XM_024447915.2:c.4199T>G, XM_024447915.1:c.3803T>C, XM_024447915.1:c.3803T>G, XM_024447917.2:c.3803T>C, XM_024447917.2:c.3803T>G, XM_024447917.1:c.3803T>C, XM_024447917.1:c.3803T>G, XM_017015982.2:c.4040T>C, XM_017015982.2:c.4040T>G, XM_017015982.1:c.4040T>C, XM_017015982.1:c.4040T>G, XM_024447916.2:c.3803T>C, XM_024447916.2:c.3803T>G, XM_024447916.1:c.3803T>C, XM_024447916.1:c.3803T>G, XM_017015983.2:c.3857T>C, XM_017015983.2:c.3857T>G, XM_017015983.1:c.3857T>C, XM_017015983.1:c.3857T>G, XM_047424878.1:c.3803T>C, XM_047424878.1:c.3803T>G, XM_047424879.1:c.3803T>C, XM_047424879.1:c.3803T>G, XM_047424876.1:c.3911T>C, XM_047424876.1:c.3911T>G, XM_047424877.1:c.3857T>C, XM_047424877.1:c.3857T>G, XM_047424880.1:c.3791T>C, XM_047424880.1:c.3791T>G, XM_047424883.1:c.3554T>C, XM_047424883.1:c.3554T>G, XM_047424884.1:c.3554T>C, XM_047424884.1:c.3554T>G, XM_047424881.1:c.3662T>C, XM_047424881.1:c.3662T>G, XM_047424882.1:c.3608T>C, XM_047424882.1:c.3608T>G, XM_047424887.1:c.*276T>C, XM_047424887.1:c.*276T>G, NP_055877.3:p.Ile1347Thr, NP_055877.3:p.Ile1347Arg, NP_001275657.1:p.Ile1227Thr, NP_001275657.1:p.Ile1227Arg, XP_011537851.1:p.Ile1304Thr, XP_011537851.1:p.Ile1304Arg, XP_011537853.1:p.Ile1264Thr, XP_011537853.1:p.Ile1264Arg, XP_024303682.1:p.Ile1268Thr, XP_024303682.1:p.Ile1268Arg, XP_024303683.2:p.Ile1400Thr, XP_024303683.2:p.Ile1400Arg, XP_024303685.1:p.Ile1268Thr, XP_024303685.1:p.Ile1268Arg, XP_016871471.1:p.Ile1347Thr, XP_016871471.1:p.Ile1347Arg, XP_024303684.1:p.Ile1268Thr, XP_024303684.1:p.Ile1268Arg, XP_016871472.1:p.Ile1286Thr, XP_016871472.1:p.Ile1286Arg, XP_047280834.1:p.Ile1268Thr, XP_047280834.1:p.Ile1268Arg, XP_047280835.1:p.Ile1268Thr, XP_047280835.1:p.Ile1268Arg, XP_047280832.1:p.Ile1304Thr, XP_047280832.1:p.Ile1304Arg, XP_047280833.1:p.Ile1286Thr, XP_047280833.1:p.Ile1286Arg, XP_047280836.1:p.Ile1264Thr, XP_047280836.1:p.Ile1264Arg, XP_047280839.1:p.Ile1185Thr, XP_047280839.1:p.Ile1185Arg, XP_047280840.1:p.Ile1185Thr, XP_047280840.1:p.Ile1185Arg, XP_047280837.1:p.Ile1221Thr, XP_047280837.1:p.Ile1221Arg, XP_047280838.1:p.Ile1203Thr, XP_047280838.1:p.Ile1203Arg

                        12.

                        rs1485120678 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          10:102139281 (GRCh38)
                          10:103899038 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:102139280:A:G
                          Gene:
                          PPRC1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000010.11:g.102139281A>G, NC_000010.10:g.103899038A>G, NG_047132.1:g.11288A>G, NM_015062.5:c.773A>G, NM_015062.4:c.773A>G, NM_015062.3:c.773A>G, NM_001288728.2:c.413A>G, NM_001288728.1:c.413A>G, NM_001288727.2:c.773A>G, NM_001288727.1:c.773A>G, XM_006717731.4:c.773A>G, XM_006717731.3:c.773A>G, XM_006717731.2:c.773A>G, XM_006717731.1:c.773A>G, XM_011539549.3:c.773A>G, XM_011539549.2:c.773A>G, XM_011539549.1:c.773A>G, XM_011539551.3:c.524A>G, XM_011539551.2:c.524A>G, XM_011539551.1:c.524A>G, XM_024447914.2:c.536A>G, XM_024447914.1:c.536A>G, XM_024447915.2:c.932A>G, XM_024447915.1:c.536A>G, XM_024447917.2:c.536A>G, XM_024447917.1:c.536A>G, XM_017015982.2:c.773A>G, XM_017015982.1:c.773A>G, XM_024447916.2:c.536A>G, XM_024447916.1:c.536A>G, XM_017015983.2:c.773A>G, XM_017015983.1:c.773A>G, XM_017015984.2:c.773A>G, XM_017015984.1:c.773A>G, XM_047424878.1:c.536A>G, XM_047424879.1:c.536A>G, XM_047424876.1:c.773A>G, XM_047424877.1:c.773A>G, XM_047424880.1:c.524A>G, XM_047424883.1:c.287A>G, XM_047424884.1:c.287A>G, XM_047424881.1:c.524A>G, XM_047424882.1:c.524A>G, XM_047424885.1:c.932A>G, XM_047424886.1:c.524A>G, XM_047424887.1:c.773A>G, NP_055877.3:p.Gln258Arg, NP_001275657.1:p.Gln138Arg, NP_001275656.1:p.Gln258Arg, XP_006717794.1:p.Gln258Arg, XP_011537851.1:p.Gln258Arg, XP_011537853.1:p.Gln175Arg, XP_024303682.1:p.Gln179Arg, XP_024303683.2:p.Gln311Arg, XP_024303685.1:p.Gln179Arg, XP_016871471.1:p.Gln258Arg, XP_024303684.1:p.Gln179Arg, XP_016871472.1:p.Gln258Arg, XP_016871473.1:p.Gln258Arg, XP_047280834.1:p.Gln179Arg, XP_047280835.1:p.Gln179Arg, XP_047280832.1:p.Gln258Arg, XP_047280833.1:p.Gln258Arg, XP_047280836.1:p.Gln175Arg, XP_047280839.1:p.Gln96Arg, XP_047280840.1:p.Gln96Arg, XP_047280837.1:p.Gln175Arg, XP_047280838.1:p.Gln175Arg, XP_047280841.1:p.Gln311Arg, XP_047280842.1:p.Gln175Arg, XP_047280843.1:p.Gln258Arg

                          13.

                          rs1484801663 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            10:102140761 (GRCh38)
                            10:103900518 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:102140760:C:T
                            Gene:
                            PPRC1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000010.11:g.102140761C>T, NC_000010.10:g.103900518C>T, NG_047132.1:g.12768C>T, NM_015062.5:c.2253C>T, NM_015062.4:c.2253C>T, NM_015062.3:c.2253C>T, NM_001288728.2:c.1893C>T, NM_001288728.1:c.1893C>T, NM_001288727.2:c.2253C>T, NM_001288727.1:c.2253C>T, XM_006717731.4:c.2253C>T, XM_006717731.3:c.2253C>T, XM_006717731.2:c.2253C>T, XM_006717731.1:c.2253C>T, XM_011539549.3:c.2253C>T, XM_011539549.2:c.2253C>T, XM_011539549.1:c.2253C>T, XM_011539551.3:c.2004C>T, XM_011539551.2:c.2004C>T, XM_011539551.1:c.2004C>T, XM_024447914.2:c.2016C>T, XM_024447914.1:c.2016C>T, XM_024447915.2:c.2412C>T, XM_024447915.1:c.2016C>T, XM_024447917.2:c.2016C>T, XM_024447917.1:c.2016C>T, XM_017015982.2:c.2253C>T, XM_017015982.1:c.2253C>T, XM_024447916.2:c.2016C>T, XM_024447916.1:c.2016C>T, XM_017015983.2:c.2253C>T, XM_017015983.1:c.2253C>T, XM_017015984.2:c.2253C>T, XM_017015984.1:c.2253C>T, XM_047424878.1:c.2016C>T, XM_047424879.1:c.2016C>T, XM_047424876.1:c.2253C>T, XM_047424877.1:c.2253C>T, XM_047424880.1:c.2004C>T, XM_047424883.1:c.1767C>T, XM_047424884.1:c.1767C>T, XM_047424881.1:c.2004C>T, XM_047424882.1:c.2004C>T, XM_047424885.1:c.2412C>T, XM_047424886.1:c.2004C>T, XM_047424887.1:c.2253C>T

                            14.

                            rs1484371154 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              10:102149328 (GRCh38)
                              10:103909085 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:102149327:T:C
                              Gene:
                              PPRC1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000010.11:g.102149328T>C, NC_000010.10:g.103909085T>C, NG_047132.1:g.21335T>C, NM_015062.5:c.4890T>C, NM_015062.4:c.4890T>C, NM_015062.3:c.4890T>C, NM_001288728.2:c.4524T>C, NM_001288728.1:c.4524T>C, NM_001288727.2:c.4098T>C, NM_001288727.1:c.4098T>C, XM_011539549.3:c.4761T>C, XM_011539549.2:c.4761T>C, XM_011539549.1:c.4761T>C, XM_011539551.3:c.4641T>C, XM_011539551.2:c.4641T>C, XM_011539551.1:c.4641T>C, XM_024447914.2:c.4653T>C, XM_024447914.1:c.4653T>C, XM_024447915.2:c.5049T>C, XM_024447915.1:c.4653T>C, XM_024447917.2:c.4653T>C, XM_024447917.1:c.4653T>C, XM_017015982.2:c.4884T>C, XM_017015982.1:c.4884T>C, XM_024447916.2:c.4653T>C, XM_024447916.1:c.4653T>C, XM_017015983.2:c.4707T>C, XM_017015983.1:c.4707T>C, XM_017015984.2:c.4092T>C, XM_017015984.1:c.4092T>C, XM_047424878.1:c.4653T>C, XM_047424879.1:c.4653T>C, XM_047424876.1:c.4755T>C, XM_047424877.1:c.4701T>C, XM_047424880.1:c.4635T>C, XM_047424883.1:c.4404T>C, XM_047424884.1:c.4404T>C, XM_047424881.1:c.4512T>C, XM_047424882.1:c.4458T>C, XM_047424885.1:c.4257T>C, XM_047424886.1:c.3849T>C

                              15.

                              rs1484316937 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                10:102149183 (GRCh38)
                                10:103908940 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:102149182:A:G
                                Gene:
                                PPRC1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000010.11:g.102149183A>G, NC_000010.10:g.103908940A>G, NG_047132.1:g.21190A>G, NM_015062.5:c.4745A>G, NM_015062.4:c.4745A>G, NM_015062.3:c.4745A>G, NM_001288728.2:c.4379A>G, NM_001288728.1:c.4379A>G, NM_001288727.2:c.3953A>G, NM_001288727.1:c.3953A>G, XM_011539549.3:c.4616A>G, XM_011539549.2:c.4616A>G, XM_011539549.1:c.4616A>G, XM_011539551.3:c.4496A>G, XM_011539551.2:c.4496A>G, XM_011539551.1:c.4496A>G, XM_024447914.2:c.4508A>G, XM_024447914.1:c.4508A>G, XM_024447915.2:c.4904A>G, XM_024447915.1:c.4508A>G, XM_024447917.2:c.4508A>G, XM_024447917.1:c.4508A>G, XM_017015982.2:c.4739A>G, XM_017015982.1:c.4739A>G, XM_024447916.2:c.4508A>G, XM_024447916.1:c.4508A>G, XM_017015983.2:c.4562A>G, XM_017015983.1:c.4562A>G, XM_017015984.2:c.3947A>G, XM_017015984.1:c.3947A>G, XM_047424878.1:c.4508A>G, XM_047424879.1:c.4508A>G, XM_047424876.1:c.4610A>G, XM_047424877.1:c.4556A>G, XM_047424880.1:c.4490A>G, XM_047424883.1:c.4259A>G, XM_047424884.1:c.4259A>G, XM_047424881.1:c.4367A>G, XM_047424882.1:c.4313A>G, XM_047424885.1:c.4112A>G, XM_047424886.1:c.3704A>G, NP_055877.3:p.Asn1582Ser, NP_001275657.1:p.Asn1460Ser, NP_001275656.1:p.Asn1318Ser, XP_011537851.1:p.Asn1539Ser, XP_011537853.1:p.Asn1499Ser, XP_024303682.1:p.Asn1503Ser, XP_024303683.2:p.Asn1635Ser, XP_024303685.1:p.Asn1503Ser, XP_016871471.1:p.Asn1580Ser, XP_024303684.1:p.Asn1503Ser, XP_016871472.1:p.Asn1521Ser, XP_016871473.1:p.Asn1316Ser, XP_047280834.1:p.Asn1503Ser, XP_047280835.1:p.Asn1503Ser, XP_047280832.1:p.Asn1537Ser, XP_047280833.1:p.Asn1519Ser, XP_047280836.1:p.Asn1497Ser, XP_047280839.1:p.Asn1420Ser, XP_047280840.1:p.Asn1420Ser, XP_047280837.1:p.Asn1456Ser, XP_047280838.1:p.Asn1438Ser, XP_047280841.1:p.Asn1371Ser, XP_047280842.1:p.Asn1235Ser

                                16.

                                rs1482248833 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  10:102137975 (GRCh38)
                                  10:103897732 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:102137974:C:G,NC_000010.11:102137974:C:T
                                  Gene:
                                  PPRC1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000010.11:g.102137975C>G, NC_000010.11:g.102137975C>T, NC_000010.10:g.103897732C>G, NC_000010.10:g.103897732C>T, NG_047132.1:g.9982C>G, NG_047132.1:g.9982C>T, NM_015062.5:c.279C>G, NM_015062.5:c.279C>T, NM_015062.4:c.279C>G, NM_015062.4:c.279C>T, NM_015062.3:c.279C>G, NM_015062.3:c.279C>T, NM_001288728.2:c.20C>G, NM_001288728.2:c.20C>T, NM_001288728.1:c.20C>G, NM_001288728.1:c.20C>T, NM_001288727.2:c.279C>G, NM_001288727.2:c.279C>T, NM_001288727.1:c.279C>G, NM_001288727.1:c.279C>T, XM_006717731.4:c.279C>G, XM_006717731.4:c.279C>T, XM_006717731.3:c.279C>G, XM_006717731.3:c.279C>T, XM_006717731.2:c.279C>G, XM_006717731.2:c.279C>T, XM_006717731.1:c.279C>G, XM_006717731.1:c.279C>T, XM_011539549.3:c.279C>G, XM_011539549.3:c.279C>T, XM_011539549.2:c.279C>G, XM_011539549.2:c.279C>T, XM_011539549.1:c.279C>G, XM_011539549.1:c.279C>T, XM_011539551.3:c.279C>G, XM_011539551.3:c.279C>T, XM_011539551.2:c.279C>G, XM_011539551.2:c.279C>T, XM_011539551.1:c.279C>G, XM_011539551.1:c.279C>T, XM_024447914.2:c.42C>G, XM_024447914.2:c.42C>T, XM_024447914.1:c.42C>G, XM_024447914.1:c.42C>T, XM_024447915.2:c.438C>G, XM_024447915.2:c.438C>T, XM_024447915.1:c.42C>G, XM_024447915.1:c.42C>T, XM_024447917.2:c.42C>G, XM_024447917.2:c.42C>T, XM_024447917.1:c.42C>G, XM_024447917.1:c.42C>T, XM_017015982.2:c.279C>G, XM_017015982.2:c.279C>T, XM_017015982.1:c.279C>G, XM_017015982.1:c.279C>T, XM_024447916.2:c.42C>G, XM_024447916.2:c.42C>T, XM_024447916.1:c.42C>G, XM_024447916.1:c.42C>T, XM_017015983.2:c.279C>G, XM_017015983.2:c.279C>T, XM_017015983.1:c.279C>G, XM_017015983.1:c.279C>T, XM_017015984.2:c.279C>G, XM_017015984.2:c.279C>T, XM_017015984.1:c.279C>G, XM_017015984.1:c.279C>T, XM_047424878.1:c.42C>G, XM_047424878.1:c.42C>T, XM_047424879.1:c.42C>G, XM_047424879.1:c.42C>T, XM_047424876.1:c.279C>G, XM_047424876.1:c.279C>T, XM_047424877.1:c.279C>G, XM_047424877.1:c.279C>T, XM_047424880.1:c.279C>G, XM_047424880.1:c.279C>T, XM_047424883.1:c.42C>G, XM_047424883.1:c.42C>T, XM_047424884.1:c.42C>G, XM_047424884.1:c.42C>T, XM_047424881.1:c.279C>G, XM_047424881.1:c.279C>T, XM_047424882.1:c.279C>G, XM_047424882.1:c.279C>T, XM_047424885.1:c.438C>G, XM_047424885.1:c.438C>T, XM_047424886.1:c.279C>G, XM_047424886.1:c.279C>T, XM_047424887.1:c.279C>G, XM_047424887.1:c.279C>T, NP_001275657.1:p.Pro7Arg, NP_001275657.1:p.Pro7Leu

                                  17.

                                  rs1481602466 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    10:102147100 (GRCh38)
                                    10:103906857 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:102147099:C:T
                                    Gene:
                                    PPRC1 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,intron_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000010.11:g.102147100C>T, NC_000010.10:g.103906857C>T, NG_047132.1:g.19107C>T, NM_015062.5:c.4108C>T, NM_015062.4:c.4108C>T, NM_015062.3:c.4108C>T, NM_001288728.2:c.3748C>T, NM_001288728.1:c.3748C>T, XM_011539549.3:c.3979C>T, XM_011539549.2:c.3979C>T, XM_011539549.1:c.3979C>T, XM_011539551.3:c.3859C>T, XM_011539551.2:c.3859C>T, XM_011539551.1:c.3859C>T, XM_024447914.2:c.3871C>T, XM_024447914.1:c.3871C>T, XM_024447915.2:c.4267C>T, XM_024447915.1:c.3871C>T, XM_024447917.2:c.3871C>T, XM_024447917.1:c.3871C>T, XM_017015982.2:c.4108C>T, XM_017015982.1:c.4108C>T, XM_024447916.2:c.3871C>T, XM_024447916.1:c.3871C>T, XM_017015983.2:c.3925C>T, XM_017015983.1:c.3925C>T, XM_047424878.1:c.3871C>T, XM_047424879.1:c.3871C>T, XM_047424876.1:c.3979C>T, XM_047424877.1:c.3925C>T, XM_047424880.1:c.3859C>T, XM_047424883.1:c.3622C>T, XM_047424884.1:c.3622C>T, XM_047424881.1:c.3730C>T, XM_047424882.1:c.3676C>T, XM_047424887.1:c.*344C>T, NP_055877.3:p.Leu1370Phe, NP_001275657.1:p.Leu1250Phe, XP_011537851.1:p.Leu1327Phe, XP_011537853.1:p.Leu1287Phe, XP_024303682.1:p.Leu1291Phe, XP_024303683.2:p.Leu1423Phe, XP_024303685.1:p.Leu1291Phe, XP_016871471.1:p.Leu1370Phe, XP_024303684.1:p.Leu1291Phe, XP_016871472.1:p.Leu1309Phe, XP_047280834.1:p.Leu1291Phe, XP_047280835.1:p.Leu1291Phe, XP_047280832.1:p.Leu1327Phe, XP_047280833.1:p.Leu1309Phe, XP_047280836.1:p.Leu1287Phe, XP_047280839.1:p.Leu1208Phe, XP_047280840.1:p.Leu1208Phe, XP_047280837.1:p.Leu1244Phe, XP_047280838.1:p.Leu1226Phe

                                    18.

                                    rs1480230764 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      10:102139949 (GRCh38)
                                      10:103899706 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:102139948:T:A
                                      Gene:
                                      PPRC1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000010.11:g.102139949T>A, NC_000010.10:g.103899706T>A, NG_047132.1:g.11956T>A, NM_015062.5:c.1441T>A, NM_015062.4:c.1441T>A, NM_015062.3:c.1441T>A, NM_001288728.2:c.1081T>A, NM_001288728.1:c.1081T>A, NM_001288727.2:c.1441T>A, NM_001288727.1:c.1441T>A, XM_006717731.4:c.1441T>A, XM_006717731.3:c.1441T>A, XM_006717731.2:c.1441T>A, XM_006717731.1:c.1441T>A, XM_011539549.3:c.1441T>A, XM_011539549.2:c.1441T>A, XM_011539549.1:c.1441T>A, XM_011539551.3:c.1192T>A, XM_011539551.2:c.1192T>A, XM_011539551.1:c.1192T>A, XM_024447914.2:c.1204T>A, XM_024447914.1:c.1204T>A, XM_024447915.2:c.1600T>A, XM_024447915.1:c.1204T>A, XM_024447917.2:c.1204T>A, XM_024447917.1:c.1204T>A, XM_017015982.2:c.1441T>A, XM_017015982.1:c.1441T>A, XM_024447916.2:c.1204T>A, XM_024447916.1:c.1204T>A, XM_017015983.2:c.1441T>A, XM_017015983.1:c.1441T>A, XM_017015984.2:c.1441T>A, XM_017015984.1:c.1441T>A, XM_047424878.1:c.1204T>A, XM_047424879.1:c.1204T>A, XM_047424876.1:c.1441T>A, XM_047424877.1:c.1441T>A, XM_047424880.1:c.1192T>A, XM_047424883.1:c.955T>A, XM_047424884.1:c.955T>A, XM_047424881.1:c.1192T>A, XM_047424882.1:c.1192T>A, XM_047424885.1:c.1600T>A, XM_047424886.1:c.1192T>A, XM_047424887.1:c.1441T>A, NP_055877.3:p.Ser481Thr, NP_001275657.1:p.Ser361Thr, NP_001275656.1:p.Ser481Thr, XP_006717794.1:p.Ser481Thr, XP_011537851.1:p.Ser481Thr, XP_011537853.1:p.Ser398Thr, XP_024303682.1:p.Ser402Thr, XP_024303683.2:p.Ser534Thr, XP_024303685.1:p.Ser402Thr, XP_016871471.1:p.Ser481Thr, XP_024303684.1:p.Ser402Thr, XP_016871472.1:p.Ser481Thr, XP_016871473.1:p.Ser481Thr, XP_047280834.1:p.Ser402Thr, XP_047280835.1:p.Ser402Thr, XP_047280832.1:p.Ser481Thr, XP_047280833.1:p.Ser481Thr, XP_047280836.1:p.Ser398Thr, XP_047280839.1:p.Ser319Thr, XP_047280840.1:p.Ser319Thr, XP_047280837.1:p.Ser398Thr, XP_047280838.1:p.Ser398Thr, XP_047280841.1:p.Ser534Thr, XP_047280842.1:p.Ser398Thr, XP_047280843.1:p.Ser481Thr

                                      19.

                                      rs1479759686 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        10:102139436 (GRCh38)
                                        10:103899193 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:102139435:C:T
                                        Gene:
                                        PPRC1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (GnomAD_exomes)
                                        T=0.000008/2 (TOPMED)
                                        T=0.000029/4 (GnomAD)
                                        T=0.000546/1 (Korea1K)
                                        HGVS:
                                        NC_000010.11:g.102139436C>T, NC_000010.10:g.103899193C>T, NG_047132.1:g.11443C>T, NM_015062.5:c.928C>T, NM_015062.4:c.928C>T, NM_015062.3:c.928C>T, NM_001288728.2:c.568C>T, NM_001288728.1:c.568C>T, NM_001288727.2:c.928C>T, NM_001288727.1:c.928C>T, XM_006717731.4:c.928C>T, XM_006717731.3:c.928C>T, XM_006717731.2:c.928C>T, XM_006717731.1:c.928C>T, XM_011539549.3:c.928C>T, XM_011539549.2:c.928C>T, XM_011539549.1:c.928C>T, XM_011539551.3:c.679C>T, XM_011539551.2:c.679C>T, XM_011539551.1:c.679C>T, XM_024447914.2:c.691C>T, XM_024447914.1:c.691C>T, XM_024447915.2:c.1087C>T, XM_024447915.1:c.691C>T, XM_024447917.2:c.691C>T, XM_024447917.1:c.691C>T, XM_017015982.2:c.928C>T, XM_017015982.1:c.928C>T, XM_024447916.2:c.691C>T, XM_024447916.1:c.691C>T, XM_017015983.2:c.928C>T, XM_017015983.1:c.928C>T, XM_017015984.2:c.928C>T, XM_017015984.1:c.928C>T, XM_047424878.1:c.691C>T, XM_047424879.1:c.691C>T, XM_047424876.1:c.928C>T, XM_047424877.1:c.928C>T, XM_047424880.1:c.679C>T, XM_047424883.1:c.442C>T, XM_047424884.1:c.442C>T, XM_047424881.1:c.679C>T, XM_047424882.1:c.679C>T, XM_047424885.1:c.1087C>T, XM_047424886.1:c.679C>T, XM_047424887.1:c.928C>T, NP_055877.3:p.Arg310Trp, NP_001275657.1:p.Arg190Trp, NP_001275656.1:p.Arg310Trp, XP_006717794.1:p.Arg310Trp, XP_011537851.1:p.Arg310Trp, XP_011537853.1:p.Arg227Trp, XP_024303682.1:p.Arg231Trp, XP_024303683.2:p.Arg363Trp, XP_024303685.1:p.Arg231Trp, XP_016871471.1:p.Arg310Trp, XP_024303684.1:p.Arg231Trp, XP_016871472.1:p.Arg310Trp, XP_016871473.1:p.Arg310Trp, XP_047280834.1:p.Arg231Trp, XP_047280835.1:p.Arg231Trp, XP_047280832.1:p.Arg310Trp, XP_047280833.1:p.Arg310Trp, XP_047280836.1:p.Arg227Trp, XP_047280839.1:p.Arg148Trp, XP_047280840.1:p.Arg148Trp, XP_047280837.1:p.Arg227Trp, XP_047280838.1:p.Arg227Trp, XP_047280841.1:p.Arg363Trp, XP_047280842.1:p.Arg227Trp, XP_047280843.1:p.Arg310Trp

                                        20.

                                        rs1477983745 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          10:102141557 (GRCh38)
                                          10:103901314 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:102141556:G:C
                                          Gene:
                                          PPRC1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          HGVS:
                                          NC_000010.11:g.102141557G>C, NC_000010.10:g.103901314G>C, NG_047132.1:g.13564G>C, NM_015062.5:c.3049G>C, NM_015062.4:c.3049G>C, NM_015062.3:c.3049G>C, NM_001288728.2:c.2689G>C, NM_001288728.1:c.2689G>C, NM_001288727.2:c.3049G>C, NM_001288727.1:c.3049G>C, XM_006717731.4:c.3049G>C, XM_006717731.3:c.3049G>C, XM_006717731.2:c.3049G>C, XM_006717731.1:c.3049G>C, XM_011539549.3:c.3049G>C, XM_011539549.2:c.3049G>C, XM_011539549.1:c.3049G>C, XM_011539551.3:c.2800G>C, XM_011539551.2:c.2800G>C, XM_011539551.1:c.2800G>C, XM_024447914.2:c.2812G>C, XM_024447914.1:c.2812G>C, XM_024447915.2:c.3208G>C, XM_024447915.1:c.2812G>C, XM_024447917.2:c.2812G>C, XM_024447917.1:c.2812G>C, XM_017015982.2:c.3049G>C, XM_017015982.1:c.3049G>C, XM_024447916.2:c.2812G>C, XM_024447916.1:c.2812G>C, XM_017015983.2:c.3049G>C, XM_017015983.1:c.3049G>C, XM_017015984.2:c.3049G>C, XM_017015984.1:c.3049G>C, XM_047424878.1:c.2812G>C, XM_047424879.1:c.2812G>C, XM_047424876.1:c.3049G>C, XM_047424877.1:c.3049G>C, XM_047424880.1:c.2800G>C, XM_047424883.1:c.2563G>C, XM_047424884.1:c.2563G>C, XM_047424881.1:c.2800G>C, XM_047424882.1:c.2800G>C, XM_047424885.1:c.3208G>C, XM_047424886.1:c.2800G>C, XM_047424887.1:c.3049G>C, NP_055877.3:p.Glu1017Gln, NP_001275657.1:p.Glu897Gln, NP_001275656.1:p.Glu1017Gln, XP_006717794.1:p.Glu1017Gln, XP_011537851.1:p.Glu1017Gln, XP_011537853.1:p.Glu934Gln, XP_024303682.1:p.Glu938Gln, XP_024303683.2:p.Glu1070Gln, XP_024303685.1:p.Glu938Gln, XP_016871471.1:p.Glu1017Gln, XP_024303684.1:p.Glu938Gln, XP_016871472.1:p.Glu1017Gln, XP_016871473.1:p.Glu1017Gln, XP_047280834.1:p.Glu938Gln, XP_047280835.1:p.Glu938Gln, XP_047280832.1:p.Glu1017Gln, XP_047280833.1:p.Glu1017Gln, XP_047280836.1:p.Glu934Gln, XP_047280839.1:p.Glu855Gln, XP_047280840.1:p.Glu855Gln, XP_047280837.1:p.Glu934Gln, XP_047280838.1:p.Glu934Gln, XP_047280841.1:p.Glu1070Gln, XP_047280842.1:p.Glu934Gln, XP_047280843.1:p.Glu1017Gln

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