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Items: 1 to 20 of 348

1.

rs1485819323 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    10:95845420 (GRCh38)
    10:97605177 (GRCh37)
    Canonical SPDI:
    NC_000010.11:95845419:G:A
    Gene:
    ENTPD1 (Varview), ENTPD1-AS1 (Varview)
    Functional Consequence:
    coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
    HGVS:
    NC_000010.11:g.95845420G>A, NC_000010.10:g.97605177G>A, NG_042803.1:g.138642G>A, NM_001776.6:c.637G>A, NM_001776.5:c.637G>A, NM_001098175.2:c.658G>A, NM_001098175.1:c.658G>A, NM_001164179.2:c.637G>A, NM_001164179.1:c.637G>A, NM_001164182.2:c.223G>A, NM_001164182.1:c.223G>A, NM_001164183.2:c.223G>A, NM_001164183.1:c.223G>A, NM_001312654.1:c.313G>A, NM_001164178.1:c.673G>A, NM_001164181.1:c.313G>A, NM_001320916.1:c.673G>A, XM_011540374.4:c.313G>A, XM_011540374.3:c.694G>A, XM_011540374.2:c.694G>A, XM_011540374.1:c.313G>A, XM_011540371.3:c.658G>A, XM_011540371.2:c.658G>A, XM_011540371.1:c.658G>A, XM_011540370.3:c.313G>A, XM_011540370.2:c.694G>A, XM_011540370.1:c.313G>A, XM_011540376.3:c.313G>A, XM_011540376.2:c.694G>A, XM_011540376.1:c.313G>A, XM_017016958.3:c.637G>A, XM_017016958.2:c.637G>A, XM_017016958.1:c.637G>A, XM_011540372.3:c.313G>A, XM_011540372.2:c.694G>A, XM_011540372.1:c.313G>A, XM_011540373.3:c.313G>A, XM_011540373.2:c.694G>A, XM_011540373.1:c.313G>A, XM_017016964.3:c.637G>A, XM_017016964.2:c.637G>A, XM_017016964.1:c.637G>A, XM_017016963.2:c.673G>A, XM_017016963.1:c.673G>A, XM_047426023.1:c.658G>A, XM_047426026.1:c.658G>A, XM_047426024.1:c.658G>A, XM_047426025.1:c.658G>A, XM_047426027.1:c.673G>A, XM_047426028.1:c.673G>A, XM_047426029.1:c.637G>A, NP_001767.3:p.Asp213Asn, NP_001091645.1:p.Asp220Asn, NP_001157651.1:p.Asp213Asn, NP_001157654.1:p.Asp75Asn, NP_001157655.1:p.Asp75Asn, NP_001299583.1:p.Asp105Asn, NP_001157650.1:p.Asp225Asn, NP_001157653.1:p.Asp105Asn, NP_001307845.1:p.Asp225Asn, XP_011538676.3:p.Asp105Asn, XP_011538673.1:p.Asp220Asn, XP_011538672.3:p.Asp105Asn, XP_011538678.3:p.Asp105Asn, XP_016872447.1:p.Asp213Asn, XP_011538674.3:p.Asp105Asn, XP_011538675.3:p.Asp105Asn, XP_016872453.1:p.Asp213Asn, XP_016872452.1:p.Asp225Asn, XP_047281979.1:p.Asp220Asn, XP_047281982.1:p.Asp220Asn, XP_047281980.1:p.Asp220Asn, XP_047281981.1:p.Asp220Asn, XP_047281983.1:p.Asp225Asn, XP_047281984.1:p.Asp225Asn, XP_047281985.1:p.Asp213Asn

    2.

    rs1480686371 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      10:95842482 (GRCh38)
      10:97602239 (GRCh37)
      Canonical SPDI:
      NC_000010.11:95842481:T:G
      Gene:
      ENTPD1 (Varview), ENTPD1-AS1 (Varview)
      Functional Consequence:
      coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
      Clinical significance:
      uncertain-significance
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      G=0.000012/3 (GnomAD_exomes)
      HGVS:
      NC_000010.11:g.95842482T>G, NC_000010.10:g.97602239T>G, NG_042803.1:g.135704T>G, NM_001776.6:c.401T>G, NM_001776.5:c.401T>G, NM_001098175.2:c.422T>G, NM_001098175.1:c.422T>G, NM_001164179.2:c.401T>G, NM_001164179.1:c.401T>G, NM_001312654.1:c.77T>G, NM_001164178.1:c.437T>G, NM_001164181.1:c.77T>G, NM_001320916.1:c.437T>G, XM_011540374.4:c.77T>G, XM_011540374.3:c.458T>G, XM_011540374.2:c.458T>G, XM_011540374.1:c.77T>G, XM_011540371.3:c.422T>G, XM_011540371.2:c.422T>G, XM_011540371.1:c.422T>G, XM_011540370.3:c.77T>G, XM_011540370.2:c.458T>G, XM_011540370.1:c.77T>G, XM_011540376.3:c.77T>G, XM_011540376.2:c.458T>G, XM_011540376.1:c.77T>G, XM_017016958.3:c.401T>G, XM_017016958.2:c.401T>G, XM_017016958.1:c.401T>G, XM_011540372.3:c.77T>G, XM_011540372.2:c.458T>G, XM_011540372.1:c.77T>G, XM_011540373.3:c.77T>G, XM_011540373.2:c.458T>G, XM_011540373.1:c.77T>G, XM_017016964.3:c.401T>G, XM_017016964.2:c.401T>G, XM_017016964.1:c.401T>G, XM_017016963.2:c.437T>G, XM_017016963.1:c.437T>G, XM_047426023.1:c.422T>G, XM_047426026.1:c.422T>G, XM_047426024.1:c.422T>G, XM_047426025.1:c.422T>G, XM_047426027.1:c.437T>G, XM_047426028.1:c.437T>G, XM_047426029.1:c.401T>G, NP_001767.3:p.Met134Arg, NP_001091645.1:p.Met141Arg, NP_001157651.1:p.Met134Arg, NP_001299583.1:p.Met26Arg, NP_001157650.1:p.Met146Arg, NP_001157653.1:p.Met26Arg, NP_001307845.1:p.Met146Arg, XP_011538676.3:p.Met26Arg, XP_011538673.1:p.Met141Arg, XP_011538672.3:p.Met26Arg, XP_011538678.3:p.Met26Arg, XP_016872447.1:p.Met134Arg, XP_011538674.3:p.Met26Arg, XP_011538675.3:p.Met26Arg, XP_016872453.1:p.Met134Arg, XP_016872452.1:p.Met146Arg, XP_047281979.1:p.Met141Arg, XP_047281982.1:p.Met141Arg, XP_047281980.1:p.Met141Arg, XP_047281981.1:p.Met141Arg, XP_047281983.1:p.Met146Arg, XP_047281984.1:p.Met146Arg, XP_047281985.1:p.Met134Arg

      3.

      rs1478330705 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        10:95847583 (GRCh38)
        10:97607340 (GRCh37)
        Canonical SPDI:
        NC_000010.11:95847582:G:A
        Gene:
        ENTPD1 (Varview), ENTPD1-AS1 (Varview)
        Functional Consequence:
        coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000010.11:g.95847583G>A, NC_000010.10:g.97607340G>A, NG_042803.1:g.140805G>A, NM_001776.6:c.951G>A, NM_001776.5:c.951G>A, NM_001098175.2:c.972G>A, NM_001098175.1:c.972G>A, NM_001164179.2:c.828G>A, NM_001164179.1:c.828G>A, NM_001164182.2:c.537G>A, NM_001164182.1:c.537G>A, NM_001164183.2:c.537G>A, NM_001164183.1:c.537G>A, NM_001312654.1:c.627G>A, NM_001164178.1:c.987G>A, NM_001164181.1:c.627G>A, NM_001320916.1:c.987G>A, XM_011540374.4:c.627G>A, XM_011540374.3:c.1008G>A, XM_011540374.2:c.1008G>A, XM_011540374.1:c.627G>A, XM_011540371.3:c.972G>A, XM_011540371.2:c.972G>A, XM_011540371.1:c.972G>A, XM_011540370.3:c.627G>A, XM_011540370.2:c.1008G>A, XM_011540370.1:c.627G>A, XM_011540376.3:c.627G>A, XM_011540376.2:c.1008G>A, XM_011540376.1:c.627G>A, XM_017016958.3:c.951G>A, XM_017016958.2:c.951G>A, XM_017016958.1:c.951G>A, XM_011540372.3:c.627G>A, XM_011540372.2:c.1008G>A, XM_011540372.1:c.627G>A, XM_011540373.3:c.627G>A, XM_011540373.2:c.1008G>A, XM_011540373.1:c.627G>A, XM_047426023.1:c.972G>A, XM_047426026.1:c.972G>A, XM_047426024.1:c.972G>A, XM_047426025.1:c.972G>A, XM_047426027.1:c.987G>A, XM_047426028.1:c.987G>A, XM_047426029.1:c.951G>A

        4.

        rs1477097278 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          10:95844555 (GRCh38)
          10:97604312 (GRCh37)
          Canonical SPDI:
          NC_000010.11:95844554:G:C
          Gene:
          ENTPD1 (Varview), ENTPD1-AS1 (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          NC_000010.11:g.95844555G>C, NC_000010.10:g.97604312G>C, NG_042803.1:g.137777G>C, NM_001776.6:c.493G>C, NM_001776.5:c.493G>C, NM_001098175.2:c.514G>C, NM_001098175.1:c.514G>C, NM_001164179.2:c.493G>C, NM_001164179.1:c.493G>C, NM_001164182.2:c.79G>C, NM_001164182.1:c.79G>C, NM_001164183.2:c.79G>C, NM_001164183.1:c.79G>C, NM_001312654.1:c.169G>C, NM_001164178.1:c.529G>C, NM_001164181.1:c.169G>C, NM_001320916.1:c.529G>C, XM_011540374.4:c.169G>C, XM_011540374.3:c.550G>C, XM_011540374.2:c.550G>C, XM_011540374.1:c.169G>C, XM_011540371.3:c.514G>C, XM_011540371.2:c.514G>C, XM_011540371.1:c.514G>C, XM_011540370.3:c.169G>C, XM_011540370.2:c.550G>C, XM_011540370.1:c.169G>C, XM_011540376.3:c.169G>C, XM_011540376.2:c.550G>C, XM_011540376.1:c.169G>C, XM_017016958.3:c.493G>C, XM_017016958.2:c.493G>C, XM_017016958.1:c.493G>C, XM_011540372.3:c.169G>C, XM_011540372.2:c.550G>C, XM_011540372.1:c.169G>C, XM_011540373.3:c.169G>C, XM_011540373.2:c.550G>C, XM_011540373.1:c.169G>C, XM_017016964.3:c.493G>C, XM_017016964.2:c.493G>C, XM_017016964.1:c.493G>C, XM_017016963.2:c.529G>C, XM_017016963.1:c.529G>C, XM_047426023.1:c.514G>C, XM_047426026.1:c.514G>C, XM_047426024.1:c.514G>C, XM_047426025.1:c.514G>C, XM_047426027.1:c.529G>C, XM_047426028.1:c.529G>C, XM_047426029.1:c.493G>C, NP_001767.3:p.Gly165Arg, NP_001091645.1:p.Gly172Arg, NP_001157651.1:p.Gly165Arg, NP_001157654.1:p.Gly27Arg, NP_001157655.1:p.Gly27Arg, NP_001299583.1:p.Gly57Arg, NP_001157650.1:p.Gly177Arg, NP_001157653.1:p.Gly57Arg, NP_001307845.1:p.Gly177Arg, XP_011538676.3:p.Gly57Arg, XP_011538673.1:p.Gly172Arg, XP_011538672.3:p.Gly57Arg, XP_011538678.3:p.Gly57Arg, XP_016872447.1:p.Gly165Arg, XP_011538674.3:p.Gly57Arg, XP_011538675.3:p.Gly57Arg, XP_016872453.1:p.Gly165Arg, XP_016872452.1:p.Gly177Arg, XP_047281979.1:p.Gly172Arg, XP_047281982.1:p.Gly172Arg, XP_047281980.1:p.Gly172Arg, XP_047281981.1:p.Gly172Arg, XP_047281983.1:p.Gly177Arg, XP_047281984.1:p.Gly177Arg, XP_047281985.1:p.Gly165Arg

          5.

          rs1477089275 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            10:95845431 (GRCh38)
            10:97605188 (GRCh37)
            Canonical SPDI:
            NC_000010.11:95845430:A:G
            Gene:
            ENTPD1 (Varview), ENTPD1-AS1 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000010.11:g.95845431A>G, NC_000010.10:g.97605188A>G, NG_042803.1:g.138653A>G, NM_001776.6:c.648A>G, NM_001776.5:c.648A>G, NM_001098175.2:c.669A>G, NM_001098175.1:c.669A>G, NM_001164179.2:c.648A>G, NM_001164179.1:c.648A>G, NM_001164182.2:c.234A>G, NM_001164182.1:c.234A>G, NM_001164183.2:c.234A>G, NM_001164183.1:c.234A>G, NM_001312654.1:c.324A>G, NM_001164178.1:c.684A>G, NM_001164181.1:c.324A>G, NM_001320916.1:c.684A>G, XM_011540374.4:c.324A>G, XM_011540374.3:c.705A>G, XM_011540374.2:c.705A>G, XM_011540374.1:c.324A>G, XM_011540371.3:c.669A>G, XM_011540371.2:c.669A>G, XM_011540371.1:c.669A>G, XM_011540370.3:c.324A>G, XM_011540370.2:c.705A>G, XM_011540370.1:c.324A>G, XM_011540376.3:c.324A>G, XM_011540376.2:c.705A>G, XM_011540376.1:c.324A>G, XM_017016958.3:c.648A>G, XM_017016958.2:c.648A>G, XM_017016958.1:c.648A>G, XM_011540372.3:c.324A>G, XM_011540372.2:c.705A>G, XM_011540372.1:c.324A>G, XM_011540373.3:c.324A>G, XM_011540373.2:c.705A>G, XM_011540373.1:c.324A>G, XM_017016964.3:c.648A>G, XM_017016964.2:c.648A>G, XM_017016964.1:c.648A>G, XM_017016963.2:c.684A>G, XM_017016963.1:c.684A>G, XM_047426023.1:c.669A>G, XM_047426026.1:c.669A>G, XM_047426024.1:c.669A>G, XM_047426025.1:c.669A>G, XM_047426027.1:c.684A>G, XM_047426028.1:c.684A>G, XM_047426029.1:c.648A>G

            6.

            rs1471220213 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              10:95866320 (GRCh38)
              10:97626077 (GRCh37)
              Canonical SPDI:
              NC_000010.11:95866319:A:G
              Gene:
              ENTPD1 (Varview), ENTPD1-AS1 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (GnomAD_exomes)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:

              7.

              rs1467944521 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                10:95845452 (GRCh38)
                10:97605209 (GRCh37)
                Canonical SPDI:
                NC_000010.11:95845451:T:G
                Gene:
                ENTPD1 (Varview), ENTPD1-AS1 (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                G=0.000004/1 (TOPMED)
                HGVS:
                NC_000010.11:g.95845452T>G, NC_000010.10:g.97605209T>G, NG_042803.1:g.138674T>G, NM_001776.6:c.669T>G, NM_001776.5:c.669T>G, NM_001098175.2:c.690T>G, NM_001098175.1:c.690T>G, NM_001164179.2:c.669T>G, NM_001164179.1:c.669T>G, NM_001164182.2:c.255T>G, NM_001164182.1:c.255T>G, NM_001164183.2:c.255T>G, NM_001164183.1:c.255T>G, NM_001312654.1:c.345T>G, NM_001164178.1:c.705T>G, NM_001164181.1:c.345T>G, NM_001320916.1:c.705T>G, XM_011540374.4:c.345T>G, XM_011540374.3:c.726T>G, XM_011540374.2:c.726T>G, XM_011540374.1:c.345T>G, XM_011540371.3:c.690T>G, XM_011540371.2:c.690T>G, XM_011540371.1:c.690T>G, XM_011540370.3:c.345T>G, XM_011540370.2:c.726T>G, XM_011540370.1:c.345T>G, XM_011540376.3:c.345T>G, XM_011540376.2:c.726T>G, XM_011540376.1:c.345T>G, XM_017016958.3:c.669T>G, XM_017016958.2:c.669T>G, XM_017016958.1:c.669T>G, XM_011540372.3:c.345T>G, XM_011540372.2:c.726T>G, XM_011540372.1:c.345T>G, XM_011540373.3:c.345T>G, XM_011540373.2:c.726T>G, XM_011540373.1:c.345T>G, XM_017016964.3:c.669T>G, XM_017016964.2:c.669T>G, XM_017016964.1:c.669T>G, XM_017016963.2:c.705T>G, XM_017016963.1:c.705T>G, XM_047426023.1:c.690T>G, XM_047426026.1:c.690T>G, XM_047426024.1:c.690T>G, XM_047426025.1:c.690T>G, XM_047426027.1:c.705T>G, XM_047426028.1:c.705T>G, XM_047426029.1:c.669T>G, NP_001767.3:p.Phe223Leu, NP_001091645.1:p.Phe230Leu, NP_001157651.1:p.Phe223Leu, NP_001157654.1:p.Phe85Leu, NP_001157655.1:p.Phe85Leu, NP_001299583.1:p.Phe115Leu, NP_001157650.1:p.Phe235Leu, NP_001157653.1:p.Phe115Leu, NP_001307845.1:p.Phe235Leu, XP_011538676.3:p.Phe115Leu, XP_011538673.1:p.Phe230Leu, XP_011538672.3:p.Phe115Leu, XP_011538678.3:p.Phe115Leu, XP_016872447.1:p.Phe223Leu, XP_011538674.3:p.Phe115Leu, XP_011538675.3:p.Phe115Leu, XP_016872453.1:p.Phe223Leu, XP_016872452.1:p.Phe235Leu, XP_047281979.1:p.Phe230Leu, XP_047281982.1:p.Phe230Leu, XP_047281980.1:p.Phe230Leu, XP_047281981.1:p.Phe230Leu, XP_047281983.1:p.Phe235Leu, XP_047281984.1:p.Phe235Leu, XP_047281985.1:p.Phe223Leu

                8.

                rs1464042755 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  10:95860496 (GRCh38)
                  10:97620253 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:95860495:A:G
                  Gene:
                  ENTPD1 (Varview), ENTPD1-AS1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000010.11:g.95860496A>G, NC_000010.10:g.97620253A>G, NG_042803.1:g.153718A>G, NM_001776.6:c.1102A>G, NM_001776.5:c.1102A>G, NM_001098175.2:c.1123A>G, NM_001098175.1:c.1123A>G, NM_001164179.2:c.979A>G, NM_001164179.1:c.979A>G, NM_001164182.2:c.688A>G, NM_001164182.1:c.688A>G, NM_001164183.2:c.688A>G, NM_001164183.1:c.688A>G, NM_001312654.1:c.778A>G, NM_001164178.1:c.1138A>G, NM_001164181.1:c.778A>G, NM_001320916.1:c.1138A>G, XM_011540374.4:c.778A>G, XM_011540374.3:c.1159A>G, XM_011540374.2:c.1159A>G, XM_011540374.1:c.778A>G, XM_011540371.3:c.1123A>G, XM_011540371.2:c.1123A>G, XM_011540371.1:c.1123A>G, XM_011540370.3:c.778A>G, XM_011540370.2:c.1159A>G, XM_011540370.1:c.778A>G, XM_017016958.3:c.1102A>G, XM_017016958.2:c.1102A>G, XM_017016958.1:c.1102A>G, XM_011540372.3:c.778A>G, XM_011540372.2:c.1159A>G, XM_011540372.1:c.778A>G, XM_011540373.3:c.778A>G, XM_011540373.2:c.1159A>G, XM_011540373.1:c.778A>G, XM_047426023.1:c.1123A>G, XM_047426026.1:c.1123A>G, XM_047426024.1:c.1123A>G, XM_047426025.1:c.1123A>G, XM_047426027.1:c.1138A>G, XM_047426028.1:c.1138A>G, XM_047426029.1:c.1102A>G, NP_001767.3:p.Lys368Glu, NP_001091645.1:p.Lys375Glu, NP_001157651.1:p.Lys327Glu, NP_001157654.1:p.Lys230Glu, NP_001157655.1:p.Lys230Glu, NP_001299583.1:p.Lys260Glu, NP_001157650.1:p.Lys380Glu, NP_001157653.1:p.Lys260Glu, NP_001307845.1:p.Lys380Glu, XP_011538676.3:p.Lys260Glu, XP_011538673.1:p.Lys375Glu, XP_011538672.3:p.Lys260Glu, XP_016872447.1:p.Lys368Glu, XP_011538674.3:p.Lys260Glu, XP_011538675.3:p.Lys260Glu, XP_047281979.1:p.Lys375Glu, XP_047281982.1:p.Lys375Glu, XP_047281980.1:p.Lys375Glu, XP_047281981.1:p.Lys375Glu, XP_047281983.1:p.Lys380Glu, XP_047281984.1:p.Lys380Glu, XP_047281985.1:p.Lys368Glu

                  9.

                  rs1460826835 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    10:95860555 (GRCh38)
                    10:97620312 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:95860554:A:G
                    Gene:
                    ENTPD1 (Varview), ENTPD1-AS1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000010.11:g.95860555A>G, NC_000010.10:g.97620312A>G, NG_042803.1:g.153777A>G, NM_001776.6:c.1161A>G, NM_001776.5:c.1161A>G, NM_001098175.2:c.1182A>G, NM_001098175.1:c.1182A>G, NM_001164179.2:c.1038A>G, NM_001164179.1:c.1038A>G, NM_001164182.2:c.747A>G, NM_001164182.1:c.747A>G, NM_001164183.2:c.747A>G, NM_001164183.1:c.747A>G, NM_001312654.1:c.837A>G, NM_001164178.1:c.1197A>G, NM_001164181.1:c.837A>G, NM_001320916.1:c.1197A>G, XM_011540374.4:c.837A>G, XM_011540374.3:c.1218A>G, XM_011540374.2:c.1218A>G, XM_011540374.1:c.837A>G, XM_011540371.3:c.1182A>G, XM_011540371.2:c.1182A>G, XM_011540371.1:c.1182A>G, XM_011540370.3:c.837A>G, XM_011540370.2:c.1218A>G, XM_011540370.1:c.837A>G, XM_017016958.3:c.1161A>G, XM_017016958.2:c.1161A>G, XM_017016958.1:c.1161A>G, XM_011540372.3:c.837A>G, XM_011540372.2:c.1218A>G, XM_011540372.1:c.837A>G, XM_011540373.3:c.837A>G, XM_011540373.2:c.1218A>G, XM_011540373.1:c.837A>G, XM_047426023.1:c.1182A>G, XM_047426026.1:c.1182A>G, XM_047426024.1:c.1182A>G, XM_047426025.1:c.1182A>G, XM_047426027.1:c.1197A>G, XM_047426028.1:c.1197A>G, XM_047426029.1:c.1161A>G

                    10.

                    rs1457749704 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,G,T [Show Flanks]
                      Chromosome:
                      10:95845380 (GRCh38)
                      10:97605137 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:95845379:C:A,NC_000010.11:95845379:C:G,NC_000010.11:95845379:C:T
                      Gene:
                      ENTPD1 (Varview), ENTPD1-AS1 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      G=0.000035/1 (TOMMO)
                      T=0.004673/1 (Vietnamese)
                      HGVS:
                      NC_000010.11:g.95845380C>A, NC_000010.11:g.95845380C>G, NC_000010.11:g.95845380C>T, NC_000010.10:g.97605137C>A, NC_000010.10:g.97605137C>G, NC_000010.10:g.97605137C>T, NG_042803.1:g.138602C>A, NG_042803.1:g.138602C>G, NG_042803.1:g.138602C>T, NM_001776.6:c.597C>A, NM_001776.6:c.597C>G, NM_001776.6:c.597C>T, NM_001776.5:c.597C>A, NM_001776.5:c.597C>G, NM_001776.5:c.597C>T, NM_001098175.2:c.618C>A, NM_001098175.2:c.618C>G, NM_001098175.2:c.618C>T, NM_001098175.1:c.618C>A, NM_001098175.1:c.618C>G, NM_001098175.1:c.618C>T, NM_001164179.2:c.597C>A, NM_001164179.2:c.597C>G, NM_001164179.2:c.597C>T, NM_001164179.1:c.597C>A, NM_001164179.1:c.597C>G, NM_001164179.1:c.597C>T, NM_001164182.2:c.183C>A, NM_001164182.2:c.183C>G, NM_001164182.2:c.183C>T, NM_001164182.1:c.183C>A, NM_001164182.1:c.183C>G, NM_001164182.1:c.183C>T, NM_001164183.2:c.183C>A, NM_001164183.2:c.183C>G, NM_001164183.2:c.183C>T, NM_001164183.1:c.183C>A, NM_001164183.1:c.183C>G, NM_001164183.1:c.183C>T, NM_001312654.1:c.273C>A, NM_001312654.1:c.273C>G, NM_001312654.1:c.273C>T, NM_001164178.1:c.633C>A, NM_001164178.1:c.633C>G, NM_001164178.1:c.633C>T, NM_001164181.1:c.273C>A, NM_001164181.1:c.273C>G, NM_001164181.1:c.273C>T, NM_001320916.1:c.633C>A, NM_001320916.1:c.633C>G, NM_001320916.1:c.633C>T, XM_011540374.4:c.273C>A, XM_011540374.4:c.273C>G, XM_011540374.4:c.273C>T, XM_011540374.3:c.654C>A, XM_011540374.3:c.654C>G, XM_011540374.3:c.654C>T, XM_011540374.2:c.654C>A, XM_011540374.2:c.654C>G, XM_011540374.2:c.654C>T, XM_011540374.1:c.273C>A, XM_011540374.1:c.273C>G, XM_011540374.1:c.273C>T, XM_011540371.3:c.618C>A, XM_011540371.3:c.618C>G, XM_011540371.3:c.618C>T, XM_011540371.2:c.618C>A, XM_011540371.2:c.618C>G, XM_011540371.2:c.618C>T, XM_011540371.1:c.618C>A, XM_011540371.1:c.618C>G, XM_011540371.1:c.618C>T, XM_011540370.3:c.273C>A, XM_011540370.3:c.273C>G, XM_011540370.3:c.273C>T, XM_011540370.2:c.654C>A, XM_011540370.2:c.654C>G, XM_011540370.2:c.654C>T, XM_011540370.1:c.273C>A, XM_011540370.1:c.273C>G, XM_011540370.1:c.273C>T, XM_011540376.3:c.273C>A, XM_011540376.3:c.273C>G, XM_011540376.3:c.273C>T, XM_011540376.2:c.654C>A, XM_011540376.2:c.654C>G, XM_011540376.2:c.654C>T, XM_011540376.1:c.273C>A, XM_011540376.1:c.273C>G, XM_011540376.1:c.273C>T, XM_017016958.3:c.597C>A, XM_017016958.3:c.597C>G, XM_017016958.3:c.597C>T, XM_017016958.2:c.597C>A, XM_017016958.2:c.597C>G, XM_017016958.2:c.597C>T, XM_017016958.1:c.597C>A, XM_017016958.1:c.597C>G, XM_017016958.1:c.597C>T, XM_011540372.3:c.273C>A, XM_011540372.3:c.273C>G, XM_011540372.3:c.273C>T, XM_011540372.2:c.654C>A, XM_011540372.2:c.654C>G, XM_011540372.2:c.654C>T, XM_011540372.1:c.273C>A, XM_011540372.1:c.273C>G, XM_011540372.1:c.273C>T, XM_011540373.3:c.273C>A, XM_011540373.3:c.273C>G, XM_011540373.3:c.273C>T, XM_011540373.2:c.654C>A, XM_011540373.2:c.654C>G, XM_011540373.2:c.654C>T, XM_011540373.1:c.273C>A, XM_011540373.1:c.273C>G, XM_011540373.1:c.273C>T, XM_017016964.3:c.597C>A, XM_017016964.3:c.597C>G, XM_017016964.3:c.597C>T, XM_017016964.2:c.597C>A, XM_017016964.2:c.597C>G, XM_017016964.2:c.597C>T, XM_017016964.1:c.597C>A, XM_017016964.1:c.597C>G, XM_017016964.1:c.597C>T, XM_017016963.2:c.633C>A, XM_017016963.2:c.633C>G, XM_017016963.2:c.633C>T, XM_017016963.1:c.633C>A, XM_017016963.1:c.633C>G, XM_017016963.1:c.633C>T, XM_047426023.1:c.618C>A, XM_047426023.1:c.618C>G, XM_047426023.1:c.618C>T, XM_047426026.1:c.618C>A, XM_047426026.1:c.618C>G, XM_047426026.1:c.618C>T, XM_047426024.1:c.618C>A, XM_047426024.1:c.618C>G, XM_047426024.1:c.618C>T, XM_047426025.1:c.618C>A, XM_047426025.1:c.618C>G, XM_047426025.1:c.618C>T, XM_047426027.1:c.633C>A, XM_047426027.1:c.633C>G, XM_047426027.1:c.633C>T, XM_047426028.1:c.633C>A, XM_047426028.1:c.633C>G, XM_047426028.1:c.633C>T, XM_047426029.1:c.597C>A, XM_047426029.1:c.597C>G, XM_047426029.1:c.597C>T

                      11.

                      rs1452827889 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        10:95866260 (GRCh38)
                        10:97626017 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:95866259:A:G
                        Gene:
                        ENTPD1 (Varview), ENTPD1-AS1 (Varview)
                        Functional Consequence:
                        synonymous_variant,3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1452483986 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          10:95845570 (GRCh38)
                          10:97605327 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:95845569:T:C
                          Gene:
                          ENTPD1 (Varview), ENTPD1-AS1 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000010.11:g.95845570T>C, NC_000010.10:g.97605327T>C, NG_042803.1:g.138792T>C, NM_001776.6:c.787T>C, NM_001776.5:c.787T>C, NM_001098175.2:c.808T>C, NM_001098175.1:c.808T>C, NM_001164179.2:c.787T>C, NM_001164179.1:c.787T>C, NM_001164182.2:c.373T>C, NM_001164182.1:c.373T>C, NM_001164183.2:c.373T>C, NM_001164183.1:c.373T>C, NM_001312654.1:c.463T>C, NM_001164178.1:c.823T>C, NM_001164181.1:c.463T>C, NM_001320916.1:c.823T>C, XM_011540374.4:c.463T>C, XM_011540374.3:c.844T>C, XM_011540374.2:c.844T>C, XM_011540374.1:c.463T>C, XM_011540371.3:c.808T>C, XM_011540371.2:c.808T>C, XM_011540371.1:c.808T>C, XM_011540370.3:c.463T>C, XM_011540370.2:c.844T>C, XM_011540370.1:c.463T>C, XM_011540376.3:c.463T>C, XM_011540376.2:c.844T>C, XM_011540376.1:c.463T>C, XM_017016958.3:c.787T>C, XM_017016958.2:c.787T>C, XM_017016958.1:c.787T>C, XM_011540372.3:c.463T>C, XM_011540372.2:c.844T>C, XM_011540372.1:c.463T>C, XM_011540373.3:c.463T>C, XM_011540373.2:c.844T>C, XM_011540373.1:c.463T>C, XM_017016964.3:c.787T>C, XM_017016964.2:c.787T>C, XM_017016964.1:c.787T>C, XM_017016963.2:c.823T>C, XM_017016963.1:c.823T>C, XM_047426023.1:c.808T>C, XM_047426026.1:c.808T>C, XM_047426024.1:c.808T>C, XM_047426025.1:c.808T>C, XM_047426027.1:c.823T>C, XM_047426028.1:c.823T>C, XM_047426029.1:c.787T>C, NP_001767.3:p.Trp263Arg, NP_001091645.1:p.Trp270Arg, NP_001157651.1:p.Trp263Arg, NP_001157654.1:p.Trp125Arg, NP_001157655.1:p.Trp125Arg, NP_001299583.1:p.Trp155Arg, NP_001157650.1:p.Trp275Arg, NP_001157653.1:p.Trp155Arg, NP_001307845.1:p.Trp275Arg, XP_011538676.3:p.Trp155Arg, XP_011538673.1:p.Trp270Arg, XP_011538672.3:p.Trp155Arg, XP_011538678.3:p.Trp155Arg, XP_016872447.1:p.Trp263Arg, XP_011538674.3:p.Trp155Arg, XP_011538675.3:p.Trp155Arg, XP_016872453.1:p.Trp263Arg, XP_016872452.1:p.Trp275Arg, XP_047281979.1:p.Trp270Arg, XP_047281982.1:p.Trp270Arg, XP_047281980.1:p.Trp270Arg, XP_047281981.1:p.Trp270Arg, XP_047281983.1:p.Trp275Arg, XP_047281984.1:p.Trp275Arg, XP_047281985.1:p.Trp263Arg

                          13.

                          rs1452045240 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            10:95847687 (GRCh38)
                            10:97607444 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:95847686:C:G,NC_000010.11:95847686:C:T
                            Gene:
                            ENTPD1 (Varview), ENTPD1-AS1 (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)
                            T=0.000004/1 (GnomAD_exomes)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000010.11:g.95847687C>G, NC_000010.11:g.95847687C>T, NC_000010.10:g.97607444C>G, NC_000010.10:g.97607444C>T, NG_042803.1:g.140909C>G, NG_042803.1:g.140909C>T, NM_001776.6:c.1055C>G, NM_001776.6:c.1055C>T, NM_001776.5:c.1055C>G, NM_001776.5:c.1055C>T, NM_001098175.2:c.1076C>G, NM_001098175.2:c.1076C>T, NM_001098175.1:c.1076C>G, NM_001098175.1:c.1076C>T, NM_001164179.2:c.932C>G, NM_001164179.2:c.932C>T, NM_001164179.1:c.932C>G, NM_001164179.1:c.932C>T, NM_001164182.2:c.641C>G, NM_001164182.2:c.641C>T, NM_001164182.1:c.641C>G, NM_001164182.1:c.641C>T, NM_001164183.2:c.641C>G, NM_001164183.2:c.641C>T, NM_001164183.1:c.641C>G, NM_001164183.1:c.641C>T, NM_001312654.1:c.731C>G, NM_001312654.1:c.731C>T, NM_001164178.1:c.1091C>G, NM_001164178.1:c.1091C>T, NM_001164181.1:c.731C>G, NM_001164181.1:c.731C>T, NM_001320916.1:c.1091C>G, NM_001320916.1:c.1091C>T, XM_011540374.4:c.731C>G, XM_011540374.4:c.731C>T, XM_011540374.3:c.1112C>G, XM_011540374.3:c.1112C>T, XM_011540374.2:c.1112C>G, XM_011540374.2:c.1112C>T, XM_011540374.1:c.731C>G, XM_011540374.1:c.731C>T, XM_011540371.3:c.1076C>G, XM_011540371.3:c.1076C>T, XM_011540371.2:c.1076C>G, XM_011540371.2:c.1076C>T, XM_011540371.1:c.1076C>G, XM_011540371.1:c.1076C>T, XM_011540370.3:c.731C>G, XM_011540370.3:c.731C>T, XM_011540370.2:c.1112C>G, XM_011540370.2:c.1112C>T, XM_011540370.1:c.731C>G, XM_011540370.1:c.731C>T, XM_011540376.3:c.731C>G, XM_011540376.3:c.731C>T, XM_011540376.2:c.1112C>G, XM_011540376.2:c.1112C>T, XM_011540376.1:c.731C>G, XM_011540376.1:c.731C>T, XM_017016958.3:c.1055C>G, XM_017016958.3:c.1055C>T, XM_017016958.2:c.1055C>G, XM_017016958.2:c.1055C>T, XM_017016958.1:c.1055C>G, XM_017016958.1:c.1055C>T, XM_011540372.3:c.731C>G, XM_011540372.3:c.731C>T, XM_011540372.2:c.1112C>G, XM_011540372.2:c.1112C>T, XM_011540372.1:c.731C>G, XM_011540372.1:c.731C>T, XM_011540373.3:c.731C>G, XM_011540373.3:c.731C>T, XM_011540373.2:c.1112C>G, XM_011540373.2:c.1112C>T, XM_011540373.1:c.731C>G, XM_011540373.1:c.731C>T, XM_047426023.1:c.1076C>G, XM_047426023.1:c.1076C>T, XM_047426026.1:c.1076C>G, XM_047426026.1:c.1076C>T, XM_047426024.1:c.1076C>G, XM_047426024.1:c.1076C>T, XM_047426025.1:c.1076C>G, XM_047426025.1:c.1076C>T, XM_047426027.1:c.1091C>G, XM_047426027.1:c.1091C>T, XM_047426028.1:c.1091C>G, XM_047426028.1:c.1091C>T, XM_047426029.1:c.1055C>G, XM_047426029.1:c.1055C>T, NP_001767.3:p.Pro352Arg, NP_001767.3:p.Pro352Leu, NP_001091645.1:p.Pro359Arg, NP_001091645.1:p.Pro359Leu, NP_001157651.1:p.Pro311Arg, NP_001157651.1:p.Pro311Leu, NP_001157654.1:p.Pro214Arg, NP_001157654.1:p.Pro214Leu, NP_001157655.1:p.Pro214Arg, NP_001157655.1:p.Pro214Leu, NP_001299583.1:p.Pro244Arg, NP_001299583.1:p.Pro244Leu, NP_001157650.1:p.Pro364Arg, NP_001157650.1:p.Pro364Leu, NP_001157653.1:p.Pro244Arg, NP_001157653.1:p.Pro244Leu, NP_001307845.1:p.Pro364Arg, NP_001307845.1:p.Pro364Leu, XP_011538676.3:p.Pro244Arg, XP_011538676.3:p.Pro244Leu, XP_011538673.1:p.Pro359Arg, XP_011538673.1:p.Pro359Leu, XP_011538672.3:p.Pro244Arg, XP_011538672.3:p.Pro244Leu, XP_011538678.3:p.Pro244Arg, XP_011538678.3:p.Pro244Leu, XP_016872447.1:p.Pro352Arg, XP_016872447.1:p.Pro352Leu, XP_011538674.3:p.Pro244Arg, XP_011538674.3:p.Pro244Leu, XP_011538675.3:p.Pro244Arg, XP_011538675.3:p.Pro244Leu, XP_047281979.1:p.Pro359Arg, XP_047281979.1:p.Pro359Leu, XP_047281982.1:p.Pro359Arg, XP_047281982.1:p.Pro359Leu, XP_047281980.1:p.Pro359Arg, XP_047281980.1:p.Pro359Leu, XP_047281981.1:p.Pro359Arg, XP_047281981.1:p.Pro359Leu, XP_047281983.1:p.Pro364Arg, XP_047281983.1:p.Pro364Leu, XP_047281984.1:p.Pro364Arg, XP_047281984.1:p.Pro364Leu, XP_047281985.1:p.Pro352Arg, XP_047281985.1:p.Pro352Leu

                            14.

                            rs1450904543 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              10:95844574 (GRCh38)
                              10:97604331 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:95844573:G:A,NC_000010.11:95844573:G:C
                              Gene:
                              ENTPD1 (Varview), ENTPD1-AS1 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000010.11:g.95844574G>A, NC_000010.11:g.95844574G>C, NC_000010.10:g.97604331G>A, NC_000010.10:g.97604331G>C, NG_042803.1:g.137796G>A, NG_042803.1:g.137796G>C, NM_001776.6:c.512G>A, NM_001776.6:c.512G>C, NM_001776.5:c.512G>A, NM_001776.5:c.512G>C, NM_001098175.2:c.533G>A, NM_001098175.2:c.533G>C, NM_001098175.1:c.533G>A, NM_001098175.1:c.533G>C, NM_001164179.2:c.512G>A, NM_001164179.2:c.512G>C, NM_001164179.1:c.512G>A, NM_001164179.1:c.512G>C, NM_001164182.2:c.98G>A, NM_001164182.2:c.98G>C, NM_001164182.1:c.98G>A, NM_001164182.1:c.98G>C, NM_001164183.2:c.98G>A, NM_001164183.2:c.98G>C, NM_001164183.1:c.98G>A, NM_001164183.1:c.98G>C, NM_001312654.1:c.188G>A, NM_001312654.1:c.188G>C, NM_001164178.1:c.548G>A, NM_001164178.1:c.548G>C, NM_001164181.1:c.188G>A, NM_001164181.1:c.188G>C, NM_001320916.1:c.548G>A, NM_001320916.1:c.548G>C, XM_011540374.4:c.188G>A, XM_011540374.4:c.188G>C, XM_011540374.3:c.569G>A, XM_011540374.3:c.569G>C, XM_011540374.2:c.569G>A, XM_011540374.2:c.569G>C, XM_011540374.1:c.188G>A, XM_011540374.1:c.188G>C, XM_011540371.3:c.533G>A, XM_011540371.3:c.533G>C, XM_011540371.2:c.533G>A, XM_011540371.2:c.533G>C, XM_011540371.1:c.533G>A, XM_011540371.1:c.533G>C, XM_011540370.3:c.188G>A, XM_011540370.3:c.188G>C, XM_011540370.2:c.569G>A, XM_011540370.2:c.569G>C, XM_011540370.1:c.188G>A, XM_011540370.1:c.188G>C, XM_011540376.3:c.188G>A, XM_011540376.3:c.188G>C, XM_011540376.2:c.569G>A, XM_011540376.2:c.569G>C, XM_011540376.1:c.188G>A, XM_011540376.1:c.188G>C, XM_017016958.3:c.512G>A, XM_017016958.3:c.512G>C, XM_017016958.2:c.512G>A, XM_017016958.2:c.512G>C, XM_017016958.1:c.512G>A, XM_017016958.1:c.512G>C, XM_011540372.3:c.188G>A, XM_011540372.3:c.188G>C, XM_011540372.2:c.569G>A, XM_011540372.2:c.569G>C, XM_011540372.1:c.188G>A, XM_011540372.1:c.188G>C, XM_011540373.3:c.188G>A, XM_011540373.3:c.188G>C, XM_011540373.2:c.569G>A, XM_011540373.2:c.569G>C, XM_011540373.1:c.188G>A, XM_011540373.1:c.188G>C, XM_017016964.3:c.512G>A, XM_017016964.3:c.512G>C, XM_017016964.2:c.512G>A, XM_017016964.2:c.512G>C, XM_017016964.1:c.512G>A, XM_017016964.1:c.512G>C, XM_017016963.2:c.548G>A, XM_017016963.2:c.548G>C, XM_017016963.1:c.548G>A, XM_017016963.1:c.548G>C, XM_047426023.1:c.533G>A, XM_047426023.1:c.533G>C, XM_047426026.1:c.533G>A, XM_047426026.1:c.533G>C, XM_047426024.1:c.533G>A, XM_047426024.1:c.533G>C, XM_047426025.1:c.533G>A, XM_047426025.1:c.533G>C, XM_047426027.1:c.548G>A, XM_047426027.1:c.548G>C, XM_047426028.1:c.548G>A, XM_047426028.1:c.548G>C, XM_047426029.1:c.512G>A, XM_047426029.1:c.512G>C, NP_001767.3:p.Gly171Asp, NP_001767.3:p.Gly171Ala, NP_001091645.1:p.Gly178Asp, NP_001091645.1:p.Gly178Ala, NP_001157651.1:p.Gly171Asp, NP_001157651.1:p.Gly171Ala, NP_001157654.1:p.Gly33Asp, NP_001157654.1:p.Gly33Ala, NP_001157655.1:p.Gly33Asp, NP_001157655.1:p.Gly33Ala, NP_001299583.1:p.Gly63Asp, NP_001299583.1:p.Gly63Ala, NP_001157650.1:p.Gly183Asp, NP_001157650.1:p.Gly183Ala, NP_001157653.1:p.Gly63Asp, NP_001157653.1:p.Gly63Ala, NP_001307845.1:p.Gly183Asp, NP_001307845.1:p.Gly183Ala, XP_011538676.3:p.Gly63Asp, XP_011538676.3:p.Gly63Ala, XP_011538673.1:p.Gly178Asp, XP_011538673.1:p.Gly178Ala, XP_011538672.3:p.Gly63Asp, XP_011538672.3:p.Gly63Ala, XP_011538678.3:p.Gly63Asp, XP_011538678.3:p.Gly63Ala, XP_016872447.1:p.Gly171Asp, XP_016872447.1:p.Gly171Ala, XP_011538674.3:p.Gly63Asp, XP_011538674.3:p.Gly63Ala, XP_011538675.3:p.Gly63Asp, XP_011538675.3:p.Gly63Ala, XP_016872453.1:p.Gly171Asp, XP_016872453.1:p.Gly171Ala, XP_016872452.1:p.Gly183Asp, XP_016872452.1:p.Gly183Ala, XP_047281979.1:p.Gly178Asp, XP_047281979.1:p.Gly178Ala, XP_047281982.1:p.Gly178Asp, XP_047281982.1:p.Gly178Ala, XP_047281980.1:p.Gly178Asp, XP_047281980.1:p.Gly178Ala, XP_047281981.1:p.Gly178Asp, XP_047281981.1:p.Gly178Ala, XP_047281983.1:p.Gly183Asp, XP_047281983.1:p.Gly183Ala, XP_047281984.1:p.Gly183Asp, XP_047281984.1:p.Gly183Ala, XP_047281985.1:p.Gly171Asp, XP_047281985.1:p.Gly171Ala

                              15.

                              rs1448538998 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                10:95866331 (GRCh38)
                                10:97626088 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:95866330:T:C
                                Gene:
                                ENTPD1 (Varview), ENTPD1-AS1 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000043/1 (ALFA)
                                C=0.000007/1 (GnomAD)
                                C=0.000011/3 (TOPMED)
                                C=0.000016/4 (GnomAD_exomes)
                                HGVS:
                                NC_000010.11:g.95866331T>C, NC_000010.10:g.97626088T>C, NG_042803.1:g.159553T>C, NM_001776.6:c.1481T>C, NM_001776.5:c.1481T>C, NM_001098175.2:c.1502T>C, NM_001098175.1:c.1502T>C, NM_001164179.2:c.1358T>C, NM_001164179.1:c.1358T>C, NM_001164182.2:c.1067T>C, NM_001164182.1:c.1067T>C, NM_001164183.2:c.1067T>C, NM_001164183.1:c.1067T>C, NM_001312654.1:c.1157T>C, NM_001164178.1:c.1517T>C, NM_001164181.1:c.1157T>C, XM_011540371.3:c.1502T>C, XM_011540371.2:c.1502T>C, XM_011540371.1:c.1502T>C, XM_011540370.3:c.1157T>C, XM_011540370.2:c.1538T>C, XM_011540370.1:c.1157T>C, XM_011540373.3:c.*112T>C, XM_011540373.2:c.*112T>C, XM_011540373.1:c.*112T>C, XM_047426023.1:c.1502T>C, XM_047426026.1:c.1502T>C, XM_047426024.1:c.1502T>C, XM_047426025.1:c.1502T>C, XM_047426027.1:c.*112T>C, NP_001767.3:p.Ile494Thr, NP_001091645.1:p.Ile501Thr, NP_001157651.1:p.Ile453Thr, NP_001157654.1:p.Ile356Thr, NP_001157655.1:p.Ile356Thr, NP_001299583.1:p.Ile386Thr, NP_001157650.1:p.Ile506Thr, NP_001157653.1:p.Ile386Thr, XP_011538673.1:p.Ile501Thr, XP_011538672.3:p.Ile386Thr, XP_047281979.1:p.Ile501Thr, XP_047281982.1:p.Ile501Thr, XP_047281980.1:p.Ile501Thr, XP_047281981.1:p.Ile501Thr

                                16.

                                rs1445739357 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  10:95845451 (GRCh38)
                                  10:97605208 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:95845450:T:C
                                  Gene:
                                  ENTPD1 (Varview), ENTPD1-AS1 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000010.11:g.95845451T>C, NC_000010.10:g.97605208T>C, NG_042803.1:g.138673T>C, NM_001776.6:c.668T>C, NM_001776.5:c.668T>C, NM_001098175.2:c.689T>C, NM_001098175.1:c.689T>C, NM_001164179.2:c.668T>C, NM_001164179.1:c.668T>C, NM_001164182.2:c.254T>C, NM_001164182.1:c.254T>C, NM_001164183.2:c.254T>C, NM_001164183.1:c.254T>C, NM_001312654.1:c.344T>C, NM_001164178.1:c.704T>C, NM_001164181.1:c.344T>C, NM_001320916.1:c.704T>C, XM_011540374.4:c.344T>C, XM_011540374.3:c.725T>C, XM_011540374.2:c.725T>C, XM_011540374.1:c.344T>C, XM_011540371.3:c.689T>C, XM_011540371.2:c.689T>C, XM_011540371.1:c.689T>C, XM_011540370.3:c.344T>C, XM_011540370.2:c.725T>C, XM_011540370.1:c.344T>C, XM_011540376.3:c.344T>C, XM_011540376.2:c.725T>C, XM_011540376.1:c.344T>C, XM_017016958.3:c.668T>C, XM_017016958.2:c.668T>C, XM_017016958.1:c.668T>C, XM_011540372.3:c.344T>C, XM_011540372.2:c.725T>C, XM_011540372.1:c.344T>C, XM_011540373.3:c.344T>C, XM_011540373.2:c.725T>C, XM_011540373.1:c.344T>C, XM_017016964.3:c.668T>C, XM_017016964.2:c.668T>C, XM_017016964.1:c.668T>C, XM_017016963.2:c.704T>C, XM_017016963.1:c.704T>C, XM_047426023.1:c.689T>C, XM_047426026.1:c.689T>C, XM_047426024.1:c.689T>C, XM_047426025.1:c.689T>C, XM_047426027.1:c.704T>C, XM_047426028.1:c.704T>C, XM_047426029.1:c.668T>C, NP_001767.3:p.Phe223Ser, NP_001091645.1:p.Phe230Ser, NP_001157651.1:p.Phe223Ser, NP_001157654.1:p.Phe85Ser, NP_001157655.1:p.Phe85Ser, NP_001299583.1:p.Phe115Ser, NP_001157650.1:p.Phe235Ser, NP_001157653.1:p.Phe115Ser, NP_001307845.1:p.Phe235Ser, XP_011538676.3:p.Phe115Ser, XP_011538673.1:p.Phe230Ser, XP_011538672.3:p.Phe115Ser, XP_011538678.3:p.Phe115Ser, XP_016872447.1:p.Phe223Ser, XP_011538674.3:p.Phe115Ser, XP_011538675.3:p.Phe115Ser, XP_016872453.1:p.Phe223Ser, XP_016872452.1:p.Phe235Ser, XP_047281979.1:p.Phe230Ser, XP_047281982.1:p.Phe230Ser, XP_047281980.1:p.Phe230Ser, XP_047281981.1:p.Phe230Ser, XP_047281983.1:p.Phe235Ser, XP_047281984.1:p.Phe235Ser, XP_047281985.1:p.Phe223Ser

                                  17.

                                  rs1445083365 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    10:95844617 (GRCh38)
                                    10:97604374 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:95844616:G:A,NC_000010.11:95844616:G:C
                                    Gene:
                                    ENTPD1 (Varview), ENTPD1-AS1 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                                    HGVS:
                                    NC_000010.11:g.95844617G>A, NC_000010.11:g.95844617G>C, NC_000010.10:g.97604374G>A, NC_000010.10:g.97604374G>C, NG_042803.1:g.137839G>A, NG_042803.1:g.137839G>C, NM_001776.6:c.555G>A, NM_001776.6:c.555G>C, NM_001776.5:c.555G>A, NM_001776.5:c.555G>C, NM_001098175.2:c.576G>A, NM_001098175.2:c.576G>C, NM_001098175.1:c.576G>A, NM_001098175.1:c.576G>C, NM_001164179.2:c.555G>A, NM_001164179.2:c.555G>C, NM_001164179.1:c.555G>A, NM_001164179.1:c.555G>C, NM_001164182.2:c.141G>A, NM_001164182.2:c.141G>C, NM_001164182.1:c.141G>A, NM_001164182.1:c.141G>C, NM_001164183.2:c.141G>A, NM_001164183.2:c.141G>C, NM_001164183.1:c.141G>A, NM_001164183.1:c.141G>C, NM_001312654.1:c.231G>A, NM_001312654.1:c.231G>C, NM_001164178.1:c.591G>A, NM_001164178.1:c.591G>C, NM_001164181.1:c.231G>A, NM_001164181.1:c.231G>C, NM_001320916.1:c.591G>A, NM_001320916.1:c.591G>C, XM_011540374.4:c.231G>A, XM_011540374.4:c.231G>C, XM_011540374.3:c.612G>A, XM_011540374.3:c.612G>C, XM_011540374.2:c.612G>A, XM_011540374.2:c.612G>C, XM_011540374.1:c.231G>A, XM_011540374.1:c.231G>C, XM_011540371.3:c.576G>A, XM_011540371.3:c.576G>C, XM_011540371.2:c.576G>A, XM_011540371.2:c.576G>C, XM_011540371.1:c.576G>A, XM_011540371.1:c.576G>C, XM_011540370.3:c.231G>A, XM_011540370.3:c.231G>C, XM_011540370.2:c.612G>A, XM_011540370.2:c.612G>C, XM_011540370.1:c.231G>A, XM_011540370.1:c.231G>C, XM_011540376.3:c.231G>A, XM_011540376.3:c.231G>C, XM_011540376.2:c.612G>A, XM_011540376.2:c.612G>C, XM_011540376.1:c.231G>A, XM_011540376.1:c.231G>C, XM_017016958.3:c.555G>A, XM_017016958.3:c.555G>C, XM_017016958.2:c.555G>A, XM_017016958.2:c.555G>C, XM_017016958.1:c.555G>A, XM_017016958.1:c.555G>C, XM_011540372.3:c.231G>A, XM_011540372.3:c.231G>C, XM_011540372.2:c.612G>A, XM_011540372.2:c.612G>C, XM_011540372.1:c.231G>A, XM_011540372.1:c.231G>C, XM_011540373.3:c.231G>A, XM_011540373.3:c.231G>C, XM_011540373.2:c.612G>A, XM_011540373.2:c.612G>C, XM_011540373.1:c.231G>A, XM_011540373.1:c.231G>C, XM_017016964.3:c.555G>A, XM_017016964.3:c.555G>C, XM_017016964.2:c.555G>A, XM_017016964.2:c.555G>C, XM_017016964.1:c.555G>A, XM_017016964.1:c.555G>C, XM_017016963.2:c.591G>A, XM_017016963.2:c.591G>C, XM_017016963.1:c.591G>A, XM_017016963.1:c.591G>C, XM_047426023.1:c.576G>A, XM_047426023.1:c.576G>C, XM_047426026.1:c.576G>A, XM_047426026.1:c.576G>C, XM_047426024.1:c.576G>A, XM_047426024.1:c.576G>C, XM_047426025.1:c.576G>A, XM_047426025.1:c.576G>C, XM_047426027.1:c.591G>A, XM_047426027.1:c.591G>C, XM_047426028.1:c.591G>A, XM_047426028.1:c.591G>C, XM_047426029.1:c.555G>A, XM_047426029.1:c.555G>C

                                    18.

                                    rs1441303851 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      10:95844593 (GRCh38)
                                      10:97604350 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:95844592:T:C
                                      Gene:
                                      ENTPD1 (Varview), ENTPD1-AS1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000010.11:g.95844593T>C, NC_000010.10:g.97604350T>C, NG_042803.1:g.137815T>C, NM_001776.6:c.531T>C, NM_001776.5:c.531T>C, NM_001098175.2:c.552T>C, NM_001098175.1:c.552T>C, NM_001164179.2:c.531T>C, NM_001164179.1:c.531T>C, NM_001164182.2:c.117T>C, NM_001164182.1:c.117T>C, NM_001164183.2:c.117T>C, NM_001164183.1:c.117T>C, NM_001312654.1:c.207T>C, NM_001164178.1:c.567T>C, NM_001164181.1:c.207T>C, NM_001320916.1:c.567T>C, XM_011540374.4:c.207T>C, XM_011540374.3:c.588T>C, XM_011540374.2:c.588T>C, XM_011540374.1:c.207T>C, XM_011540371.3:c.552T>C, XM_011540371.2:c.552T>C, XM_011540371.1:c.552T>C, XM_011540370.3:c.207T>C, XM_011540370.2:c.588T>C, XM_011540370.1:c.207T>C, XM_011540376.3:c.207T>C, XM_011540376.2:c.588T>C, XM_011540376.1:c.207T>C, XM_017016958.3:c.531T>C, XM_017016958.2:c.531T>C, XM_017016958.1:c.531T>C, XM_011540372.3:c.207T>C, XM_011540372.2:c.588T>C, XM_011540372.1:c.207T>C, XM_011540373.3:c.207T>C, XM_011540373.2:c.588T>C, XM_011540373.1:c.207T>C, XM_017016964.3:c.531T>C, XM_017016964.2:c.531T>C, XM_017016964.1:c.531T>C, XM_017016963.2:c.567T>C, XM_017016963.1:c.567T>C, XM_047426023.1:c.552T>C, XM_047426026.1:c.552T>C, XM_047426024.1:c.552T>C, XM_047426025.1:c.552T>C, XM_047426027.1:c.567T>C, XM_047426028.1:c.567T>C, XM_047426029.1:c.531T>C

                                      19.

                                      rs1439334807 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        10:95866338 (GRCh38)
                                        10:97626095 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:95866337:G:T
                                        Gene:
                                        ENTPD1 (Varview), ENTPD1-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        T=0.0016/3 (Korea1K)
                                        HGVS:
                                        NC_000010.11:g.95866338G>T, NC_000010.10:g.97626095G>T, NG_042803.1:g.159560G>T, NM_001776.6:c.1488G>T, NM_001776.5:c.1488G>T, NM_001098175.2:c.1509G>T, NM_001098175.1:c.1509G>T, NM_001164179.2:c.1365G>T, NM_001164179.1:c.1365G>T, NM_001164182.2:c.1074G>T, NM_001164182.1:c.1074G>T, NM_001164183.2:c.1074G>T, NM_001164183.1:c.1074G>T, NM_001312654.1:c.1164G>T, NM_001164178.1:c.1524G>T, NM_001164181.1:c.1164G>T, XM_011540371.3:c.1509G>T, XM_011540371.2:c.1509G>T, XM_011540371.1:c.1509G>T, XM_011540370.3:c.1164G>T, XM_011540370.2:c.1545G>T, XM_011540370.1:c.1164G>T, XM_011540373.3:c.*119G>T, XM_011540373.2:c.*119G>T, XM_011540373.1:c.*119G>T, XM_047426023.1:c.1509G>T, XM_047426026.1:c.1509G>T, XM_047426024.1:c.1509G>T, XM_047426025.1:c.1509G>T, XM_047426027.1:c.*119G>T, NP_001767.3:p.Leu496Phe, NP_001091645.1:p.Leu503Phe, NP_001157651.1:p.Leu455Phe, NP_001157654.1:p.Leu358Phe, NP_001157655.1:p.Leu358Phe, NP_001299583.1:p.Leu388Phe, NP_001157650.1:p.Leu508Phe, NP_001157653.1:p.Leu388Phe, XP_011538673.1:p.Leu503Phe, XP_011538672.3:p.Leu388Phe, XP_047281979.1:p.Leu503Phe, XP_047281982.1:p.Leu503Phe, XP_047281980.1:p.Leu503Phe, XP_047281981.1:p.Leu503Phe

                                        20.

                                        rs1438394752 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          10:95864732 (GRCh38)
                                          10:97624489 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:95864731:A:G
                                          Gene:
                                          ENTPD1 (Varview), ENTPD1-AS1 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000008/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000010.11:g.95864732A>G, NC_000010.10:g.97624489A>G, NG_042803.1:g.157954A>G, NM_001776.6:c.1197A>G, NM_001776.5:c.1197A>G, NM_001098175.2:c.1218A>G, NM_001098175.1:c.1218A>G, NM_001164179.2:c.1074A>G, NM_001164179.1:c.1074A>G, NM_001164182.2:c.783A>G, NM_001164182.1:c.783A>G, NM_001164183.2:c.783A>G, NM_001164183.1:c.783A>G, NM_001312654.1:c.873A>G, NM_001164178.1:c.1233A>G, NM_001164181.1:c.873A>G, NM_001320916.1:c.1233A>G, XM_011540374.4:c.873A>G, XM_011540374.3:c.1254A>G, XM_011540374.2:c.1254A>G, XM_011540374.1:c.873A>G, XM_011540371.3:c.1218A>G, XM_011540371.2:c.1218A>G, XM_011540371.1:c.1218A>G, XM_011540370.3:c.873A>G, XM_011540370.2:c.1254A>G, XM_011540370.1:c.873A>G, XM_017016958.3:c.1197A>G, XM_017016958.2:c.1197A>G, XM_017016958.1:c.1197A>G, XM_011540372.3:c.873A>G, XM_011540372.2:c.1254A>G, XM_011540372.1:c.873A>G, XM_011540373.3:c.873A>G, XM_011540373.2:c.1254A>G, XM_011540373.1:c.873A>G, XM_047426023.1:c.1218A>G, XM_047426026.1:c.1218A>G, XM_047426024.1:c.1218A>G, XM_047426025.1:c.1218A>G, XM_047426027.1:c.1233A>G, XM_047426028.1:c.1233A>G, XM_047426029.1:c.1197A>G

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