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Items: 1 to 20 of 204

1.

rs1490404960 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    10:95756246 (GRCh38)
    10:97516003 (GRCh37)
    Canonical SPDI:
    NC_000010.11:95756245:G:A
    Gene:
    ENTPD1 (Varview), ENTPD1-AS1 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000010.11:g.95756246G>A, NC_000010.10:g.97516003G>A, NG_042803.1:g.49468G>A, NM_001776.6:c.7G>A, NM_001776.5:c.7G>A, NM_001164179.2:c.7G>A, NM_001164179.1:c.7G>A, NM_001164182.2:c.-257G>A, NM_001164182.1:c.-257G>A, NM_001164183.2:c.-139G>A, NM_001164183.1:c.-139G>A, XM_011540374.4:c.-190G>A, XM_011540374.3:c.192G>A, XM_011540374.2:c.192G>A, XM_011540374.1:c.-190G>A, XM_011540370.3:c.-190G>A, XM_011540370.2:c.192G>A, XM_011540370.1:c.-190G>A, XM_011540376.3:c.-190G>A, XM_011540376.2:c.192G>A, XM_011540376.1:c.-190G>A, XM_017016958.3:c.7G>A, XM_017016958.2:c.7G>A, XM_017016958.1:c.7G>A, XM_011540372.3:c.-190G>A, XM_011540372.2:c.192G>A, XM_011540372.1:c.-190G>A, XM_011540373.3:c.-190G>A, XM_011540373.2:c.192G>A, XM_011540373.1:c.-190G>A, XM_017016964.3:c.7G>A, XM_017016964.2:c.7G>A, XM_017016964.1:c.7G>A, NR_038444.1:n.1222C>T, XM_047426029.1:c.7G>A, NP_001767.3:p.Asp3Asn, NP_001157651.1:p.Asp3Asn, XP_016872447.1:p.Asp3Asn, XP_016872453.1:p.Asp3Asn, XP_047281985.1:p.Asp3Asn

    2.

    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

      3.

      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

        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.

            rs1476890534 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              10:95823292 (GRCh38)
              10:97583049 (GRCh37)
              Canonical SPDI:
              NC_000010.11:95823291:C:T
              Gene:
              ENTPD1 (Varview), ENTPD1-AS1 (Varview)
              Functional Consequence:
              5_prime_UTR_variant,intron_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.95823292C>T, NC_000010.10:g.97583049C>T, NG_042803.1:g.116514C>T, NM_001776.6:c.72C>T, NM_001776.5:c.72C>T, NM_001098175.2:c.93C>T, NM_001098175.1:c.93C>T, NM_001164179.2:c.72C>T, NM_001164179.1:c.72C>T, NM_001164182.2:c.-192C>T, NM_001164182.1:c.-192C>T, NM_001164183.2:c.-74C>T, NM_001164183.1:c.-74C>T, NM_001164178.1:c.108C>T, NM_001320916.1:c.108C>T, XM_011540371.3:c.93C>T, XM_011540371.2:c.93C>T, XM_011540371.1:c.93C>T, XM_017016958.3:c.72C>T, XM_017016958.2:c.72C>T, XM_017016958.1:c.72C>T, XM_017016964.3:c.72C>T, XM_017016964.2:c.72C>T, XM_017016964.1:c.72C>T, XM_017016963.2:c.108C>T, XM_017016963.1:c.108C>T, XM_047426023.1:c.93C>T, XM_047426026.1:c.93C>T, XM_047426024.1:c.93C>T, XM_047426025.1:c.93C>T, XM_047426027.1:c.108C>T, XM_047426028.1:c.108C>T, XM_047426029.1:c.72C>T

              7.

              rs1474947641 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                10:95842350 (GRCh38)
                10:97602107 (GRCh37)
                Canonical SPDI:
                NC_000010.11:95842349:G:A
                Gene:
                ENTPD1 (Varview), ENTPD1-AS1 (Varview)
                Functional Consequence:
                5_prime_UTR_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000014/2 (GnomAD)
                HGVS:
                NC_000010.11:g.95842350G>A, NC_000010.10:g.97602107G>A, NG_042803.1:g.135572G>A, NM_001776.6:c.269G>A, NM_001776.5:c.269G>A, NM_001098175.2:c.290G>A, NM_001098175.1:c.290G>A, NM_001164179.2:c.269G>A, NM_001164179.1:c.269G>A, NM_001312654.1:c.-56G>A, NM_001164178.1:c.305G>A, NM_001164181.1:c.-56G>A, NM_001320916.1:c.305G>A, XM_011540374.4:c.-56G>A, XM_011540374.3:c.326G>A, XM_011540374.2:c.326G>A, XM_011540374.1:c.-56G>A, XM_011540371.3:c.290G>A, XM_011540371.2:c.290G>A, XM_011540371.1:c.290G>A, XM_011540370.3:c.-56G>A, XM_011540370.2:c.326G>A, XM_011540370.1:c.-56G>A, XM_011540376.3:c.-56G>A, XM_011540376.2:c.326G>A, XM_011540376.1:c.-56G>A, XM_017016958.3:c.269G>A, XM_017016958.2:c.269G>A, XM_017016958.1:c.269G>A, XM_011540372.3:c.-56G>A, XM_011540372.2:c.326G>A, XM_011540372.1:c.-56G>A, XM_011540373.3:c.-56G>A, XM_011540373.2:c.326G>A, XM_011540373.1:c.-56G>A, XM_017016964.3:c.269G>A, XM_017016964.2:c.269G>A, XM_017016964.1:c.269G>A, XM_017016963.2:c.305G>A, XM_017016963.1:c.305G>A, XM_047426023.1:c.290G>A, XM_047426026.1:c.290G>A, XM_047426024.1:c.290G>A, XM_047426025.1:c.290G>A, XM_047426027.1:c.305G>A, XM_047426028.1:c.305G>A, XM_047426029.1:c.269G>A, NP_001767.3:p.Gly90Glu, NP_001091645.1:p.Gly97Glu, NP_001157651.1:p.Gly90Glu, NP_001157650.1:p.Gly102Glu, NP_001307845.1:p.Gly102Glu, XP_011538673.1:p.Gly97Glu, XP_016872447.1:p.Gly90Glu, XP_016872453.1:p.Gly90Glu, XP_016872452.1:p.Gly102Glu, XP_047281979.1:p.Gly97Glu, XP_047281982.1:p.Gly97Glu, XP_047281980.1:p.Gly97Glu, XP_047281981.1:p.Gly97Glu, XP_047281983.1:p.Gly102Glu, XP_047281984.1:p.Gly102Glu, XP_047281985.1:p.Gly90Glu

                8.

                rs1470277172 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  10:95842393 (GRCh38)
                  10:97602150 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:95842392:C:T
                  Gene:
                  ENTPD1 (Varview), ENTPD1-AS1 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000010.11:g.95842393C>T, NC_000010.10:g.97602150C>T, NG_042803.1:g.135615C>T, NM_001776.6:c.312C>T, NM_001776.5:c.312C>T, NM_001098175.2:c.333C>T, NM_001098175.1:c.333C>T, NM_001164179.2:c.312C>T, NM_001164179.1:c.312C>T, NM_001312654.1:c.-13C>T, NM_001164178.1:c.348C>T, NM_001164181.1:c.-13C>T, NM_001320916.1:c.348C>T, XM_011540374.4:c.-13C>T, XM_011540374.3:c.369C>T, XM_011540374.2:c.369C>T, XM_011540374.1:c.-13C>T, XM_011540371.3:c.333C>T, XM_011540371.2:c.333C>T, XM_011540371.1:c.333C>T, XM_011540370.3:c.-13C>T, XM_011540370.2:c.369C>T, XM_011540370.1:c.-13C>T, XM_011540376.3:c.-13C>T, XM_011540376.2:c.369C>T, XM_011540376.1:c.-13C>T, XM_017016958.3:c.312C>T, XM_017016958.2:c.312C>T, XM_017016958.1:c.312C>T, XM_011540372.3:c.-13C>T, XM_011540372.2:c.369C>T, XM_011540372.1:c.-13C>T, XM_011540373.3:c.-13C>T, XM_011540373.2:c.369C>T, XM_011540373.1:c.-13C>T, XM_017016964.3:c.312C>T, XM_017016964.2:c.312C>T, XM_017016964.1:c.312C>T, XM_017016963.2:c.348C>T, XM_017016963.1:c.348C>T, XM_047426023.1:c.333C>T, XM_047426026.1:c.333C>T, XM_047426024.1:c.333C>T, XM_047426025.1:c.333C>T, XM_047426027.1:c.348C>T, XM_047426028.1:c.348C>T, XM_047426029.1:c.312C>T

                  9.

                  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

                    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.

                      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

                        12.

                        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

                          13.

                          rs1450544702 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            10:95756253 (GRCh38)
                            10:97516010 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:95756252:A:G
                            Gene:
                            ENTPD1 (Varview), ENTPD1-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0./0 (KOREAN)
                            G=0.000008/2 (TOPMED)
                            G=0.000014/3 (GnomAD_exomes)
                            G=0.000546/1 (Korea1K)
                            HGVS:
                            NC_000010.11:g.95756253A>G, NC_000010.10:g.97516010A>G, NG_042803.1:g.49475A>G, NM_001776.6:c.14A>G, NM_001776.5:c.14A>G, NM_001164179.2:c.14A>G, NM_001164179.1:c.14A>G, NM_001164182.2:c.-250A>G, NM_001164182.1:c.-250A>G, NM_001164183.2:c.-132A>G, NM_001164183.1:c.-132A>G, XM_011540374.4:c.-183A>G, XM_011540374.3:c.199A>G, XM_011540374.2:c.199A>G, XM_011540374.1:c.-183A>G, XM_011540370.3:c.-183A>G, XM_011540370.2:c.199A>G, XM_011540370.1:c.-183A>G, XM_011540376.3:c.-183A>G, XM_011540376.2:c.199A>G, XM_011540376.1:c.-183A>G, XM_017016958.3:c.14A>G, XM_017016958.2:c.14A>G, XM_017016958.1:c.14A>G, XM_011540372.3:c.-183A>G, XM_011540372.2:c.199A>G, XM_011540372.1:c.-183A>G, XM_011540373.3:c.-183A>G, XM_011540373.2:c.199A>G, XM_011540373.1:c.-183A>G, XM_017016964.3:c.14A>G, XM_017016964.2:c.14A>G, XM_017016964.1:c.14A>G, NR_038444.1:n.1215T>C, XM_047426029.1:c.14A>G, NP_001767.3:p.Lys5Arg, NP_001157651.1:p.Lys5Arg, XP_016872447.1:p.Lys5Arg, XP_016872453.1:p.Lys5Arg, XP_047281985.1:p.Lys5Arg

                            14.

                            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

                              15.

                              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

                                16.

                                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

                                  17.

                                  rs1433738575 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C,T [Show Flanks]
                                    Chromosome:
                                    10:95839744 (GRCh38)
                                    10:97599501 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:95839743:G:C,NC_000010.11:95839743:G:T
                                    Gene:
                                    ENTPD1 (Varview), ENTPD1-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,5_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0.0001/1 (ALFA)
                                    HGVS:
                                    NC_000010.11:g.95839744G>C, NC_000010.11:g.95839744G>T, NC_000010.10:g.97599501G>C, NC_000010.10:g.97599501G>T, NG_042803.1:g.132966G>C, NG_042803.1:g.132966G>T, NM_001776.6:c.198G>C, NM_001776.6:c.198G>T, NM_001776.5:c.198G>C, NM_001776.5:c.198G>T, NM_001098175.2:c.219G>C, NM_001098175.2:c.219G>T, NM_001098175.1:c.219G>C, NM_001098175.1:c.219G>T, NM_001164179.2:c.198G>C, NM_001164179.2:c.198G>T, NM_001164179.1:c.198G>C, NM_001164179.1:c.198G>T, NM_001164182.2:c.-66G>C, NM_001164182.2:c.-66G>T, NM_001164182.1:c.-66G>C, NM_001164182.1:c.-66G>T, NM_001312654.1:c.-127G>C, NM_001312654.1:c.-127G>T, NM_001164178.1:c.234G>C, NM_001164178.1:c.234G>T, NM_001164181.1:c.-127G>C, NM_001164181.1:c.-127G>T, NM_001320916.1:c.234G>C, NM_001320916.1:c.234G>T, XM_011540374.4:c.-127G>C, XM_011540374.4:c.-127G>T, XM_011540374.3:c.255G>C, XM_011540374.3:c.255G>T, XM_011540374.2:c.255G>C, XM_011540374.2:c.255G>T, XM_011540374.1:c.-127G>C, XM_011540374.1:c.-127G>T, XM_011540371.3:c.219G>C, XM_011540371.3:c.219G>T, XM_011540371.2:c.219G>C, XM_011540371.2:c.219G>T, XM_011540371.1:c.219G>C, XM_011540371.1:c.219G>T, XM_011540370.3:c.-127G>C, XM_011540370.3:c.-127G>T, XM_011540370.2:c.255G>C, XM_011540370.2:c.255G>T, XM_011540370.1:c.-127G>C, XM_011540370.1:c.-127G>T, XM_011540376.3:c.-127G>C, XM_011540376.3:c.-127G>T, XM_011540376.2:c.255G>C, XM_011540376.2:c.255G>T, XM_011540376.1:c.-127G>C, XM_011540376.1:c.-127G>T, XM_017016958.3:c.198G>C, XM_017016958.3:c.198G>T, XM_017016958.2:c.198G>C, XM_017016958.2:c.198G>T, XM_017016958.1:c.198G>C, XM_017016958.1:c.198G>T, XM_011540372.3:c.-127G>C, XM_011540372.3:c.-127G>T, XM_011540372.2:c.255G>C, XM_011540372.2:c.255G>T, XM_011540372.1:c.-127G>C, XM_011540372.1:c.-127G>T, XM_011540373.3:c.-127G>C, XM_011540373.3:c.-127G>T, XM_011540373.2:c.255G>C, XM_011540373.2:c.255G>T, XM_011540373.1:c.-127G>C, XM_011540373.1:c.-127G>T, XM_017016964.3:c.198G>C, XM_017016964.3:c.198G>T, XM_017016964.2:c.198G>C, XM_017016964.2:c.198G>T, XM_017016964.1:c.198G>C, XM_017016964.1:c.198G>T, XM_017016963.2:c.234G>C, XM_017016963.2:c.234G>T, XM_017016963.1:c.234G>C, XM_017016963.1:c.234G>T, XM_047426023.1:c.219G>C, XM_047426023.1:c.219G>T, XM_047426026.1:c.219G>C, XM_047426026.1:c.219G>T, XM_047426024.1:c.219G>C, XM_047426024.1:c.219G>T, XM_047426025.1:c.219G>C, XM_047426025.1:c.219G>T, XM_047426027.1:c.234G>C, XM_047426027.1:c.234G>T, XM_047426028.1:c.234G>C, XM_047426028.1:c.234G>T, XM_047426029.1:c.198G>C, XM_047426029.1:c.198G>T, NP_001767.3:p.Lys66Asn, NP_001767.3:p.Lys66Asn, NP_001091645.1:p.Lys73Asn, NP_001091645.1:p.Lys73Asn, NP_001157651.1:p.Lys66Asn, NP_001157651.1:p.Lys66Asn, NP_001157650.1:p.Lys78Asn, NP_001157650.1:p.Lys78Asn, NP_001307845.1:p.Lys78Asn, NP_001307845.1:p.Lys78Asn, XP_011538673.1:p.Lys73Asn, XP_011538673.1:p.Lys73Asn, XP_016872447.1:p.Lys66Asn, XP_016872447.1:p.Lys66Asn, XP_016872453.1:p.Lys66Asn, XP_016872453.1:p.Lys66Asn, XP_016872452.1:p.Lys78Asn, XP_016872452.1:p.Lys78Asn, XP_047281979.1:p.Lys73Asn, XP_047281979.1:p.Lys73Asn, XP_047281982.1:p.Lys73Asn, XP_047281982.1:p.Lys73Asn, XP_047281980.1:p.Lys73Asn, XP_047281980.1:p.Lys73Asn, XP_047281981.1:p.Lys73Asn, XP_047281981.1:p.Lys73Asn, XP_047281983.1:p.Lys78Asn, XP_047281983.1:p.Lys78Asn, XP_047281984.1:p.Lys78Asn, XP_047281984.1:p.Lys78Asn, XP_047281985.1:p.Lys66Asn, XP_047281985.1:p.Lys66Asn

                                    18.

                                    rs1425784321 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      CTC>- [Show Flanks]
                                      Chromosome:
                                      10:95823292 (GRCh38)
                                      10:97583049 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:95823288:CTCCTC:CTC
                                      Gene:
                                      ENTPD1 (Varview), ENTPD1-AS1 (Varview)
                                      Functional Consequence:
                                      5_prime_UTR_variant,intron_variant,inframe_deletion,genic_downstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      -=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000010.11:g.95823289CTC[1], NC_000010.10:g.97583046CTC[1], NG_042803.1:g.116511CTC[1], NM_001776.6:c.69CTC[1], NM_001776.5:c.69CTC[1], NM_001098175.2:c.90CTC[1], NM_001098175.1:c.90CTC[1], NM_001164179.2:c.69CTC[1], NM_001164179.1:c.69CTC[1], NM_001164182.2:c.-195CTC[1], NM_001164182.1:c.-195CTC[1], NM_001164183.2:c.-77CTC[1], NM_001164183.1:c.-77CTC[1], NM_001164178.1:c.105CTC[1], NM_001320916.1:c.105CTC[1], XM_011540371.3:c.90CTC[1], XM_011540371.2:c.90CTC[1], XM_011540371.1:c.90CTC[1], XM_017016958.3:c.69CTC[1], XM_017016958.2:c.69CTC[1], XM_017016958.1:c.69CTC[1], XM_017016964.3:c.69CTC[1], XM_017016964.2:c.69CTC[1], XM_017016964.1:c.69CTC[1], XM_017016963.2:c.105CTC[1], XM_017016963.1:c.105CTC[1], XM_047426023.1:c.90CTC[1], XM_047426026.1:c.90CTC[1], XM_047426024.1:c.90CTC[1], XM_047426025.1:c.90CTC[1], XM_047426027.1:c.105CTC[1], XM_047426028.1:c.105CTC[1], XM_047426029.1:c.69CTC[1], NP_001767.3:p.Ser25del, NP_001091645.1:p.Ser32del, NP_001157651.1:p.Ser25del, NP_001157650.1:p.Ser37del, NP_001307845.1:p.Ser37del, XP_011538673.1:p.Ser32del, XP_016872447.1:p.Ser25del, XP_016872453.1:p.Ser25del, XP_016872452.1:p.Ser37del, XP_047281979.1:p.Ser32del, XP_047281982.1:p.Ser32del, XP_047281980.1:p.Ser32del, XP_047281981.1:p.Ser32del, XP_047281983.1:p.Ser37del, XP_047281984.1:p.Ser37del, XP_047281985.1:p.Ser25del

                                      19.

                                      rs1421204334 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        10:95845480 (GRCh38)
                                        10:97605237 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:95845479:C:G
                                        Gene:
                                        ENTPD1 (Varview), ENTPD1-AS1 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000010.11:g.95845480C>G, NC_000010.10:g.97605237C>G, NG_042803.1:g.138702C>G, NM_001776.6:c.697C>G, NM_001776.5:c.697C>G, NM_001098175.2:c.718C>G, NM_001098175.1:c.718C>G, NM_001164179.2:c.697C>G, NM_001164179.1:c.697C>G, NM_001164182.2:c.283C>G, NM_001164182.1:c.283C>G, NM_001164183.2:c.283C>G, NM_001164183.1:c.283C>G, NM_001312654.1:c.373C>G, NM_001164178.1:c.733C>G, NM_001164181.1:c.373C>G, NM_001320916.1:c.733C>G, XM_011540374.4:c.373C>G, XM_011540374.3:c.754C>G, XM_011540374.2:c.754C>G, XM_011540374.1:c.373C>G, XM_011540371.3:c.718C>G, XM_011540371.2:c.718C>G, XM_011540371.1:c.718C>G, XM_011540370.3:c.373C>G, XM_011540370.2:c.754C>G, XM_011540370.1:c.373C>G, XM_011540376.3:c.373C>G, XM_011540376.2:c.754C>G, XM_011540376.1:c.373C>G, XM_017016958.3:c.697C>G, XM_017016958.2:c.697C>G, XM_017016958.1:c.697C>G, XM_011540372.3:c.373C>G, XM_011540372.2:c.754C>G, XM_011540372.1:c.373C>G, XM_011540373.3:c.373C>G, XM_011540373.2:c.754C>G, XM_011540373.1:c.373C>G, XM_017016964.3:c.697C>G, XM_017016964.2:c.697C>G, XM_017016964.1:c.697C>G, XM_017016963.2:c.733C>G, XM_017016963.1:c.733C>G, XM_047426023.1:c.718C>G, XM_047426026.1:c.718C>G, XM_047426024.1:c.718C>G, XM_047426025.1:c.718C>G, XM_047426027.1:c.733C>G, XM_047426028.1:c.733C>G, XM_047426029.1:c.697C>G, NP_001767.3:p.Pro233Ala, NP_001091645.1:p.Pro240Ala, NP_001157651.1:p.Pro233Ala, NP_001157654.1:p.Pro95Ala, NP_001157655.1:p.Pro95Ala, NP_001299583.1:p.Pro125Ala, NP_001157650.1:p.Pro245Ala, NP_001157653.1:p.Pro125Ala, NP_001307845.1:p.Pro245Ala, XP_011538676.3:p.Pro125Ala, XP_011538673.1:p.Pro240Ala, XP_011538672.3:p.Pro125Ala, XP_011538678.3:p.Pro125Ala, XP_016872447.1:p.Pro233Ala, XP_011538674.3:p.Pro125Ala, XP_011538675.3:p.Pro125Ala, XP_016872453.1:p.Pro233Ala, XP_016872452.1:p.Pro245Ala, XP_047281979.1:p.Pro240Ala, XP_047281982.1:p.Pro240Ala, XP_047281980.1:p.Pro240Ala, XP_047281981.1:p.Pro240Ala, XP_047281983.1:p.Pro245Ala, XP_047281984.1:p.Pro245Ala, XP_047281985.1:p.Pro233Ala

                                        20.

                                        rs1418647067 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          10:95839726 (GRCh38)
                                          10:97599483 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:95839725:A:G
                                          Gene:
                                          ENTPD1 (Varview), ENTPD1-AS1 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,5_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000031/1 (ALFA)
                                          G=0.000004/1 (GnomAD_exomes)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000010.11:g.95839726A>G, NC_000010.10:g.97599483A>G, NG_042803.1:g.132948A>G, NM_001776.6:c.180A>G, NM_001776.5:c.180A>G, NM_001098175.2:c.201A>G, NM_001098175.1:c.201A>G, NM_001164179.2:c.180A>G, NM_001164179.1:c.180A>G, NM_001164182.2:c.-84A>G, NM_001164182.1:c.-84A>G, NM_001312654.1:c.-145A>G, NM_001164178.1:c.216A>G, NM_001164181.1:c.-145A>G, NM_001320916.1:c.216A>G, XM_011540374.4:c.-145A>G, XM_011540374.3:c.237A>G, XM_011540374.2:c.237A>G, XM_011540374.1:c.-145A>G, XM_011540371.3:c.201A>G, XM_011540371.2:c.201A>G, XM_011540371.1:c.201A>G, XM_011540370.3:c.-145A>G, XM_011540370.2:c.237A>G, XM_011540370.1:c.-145A>G, XM_011540376.3:c.-145A>G, XM_011540376.2:c.237A>G, XM_011540376.1:c.-145A>G, XM_017016958.3:c.180A>G, XM_017016958.2:c.180A>G, XM_017016958.1:c.180A>G, XM_011540372.3:c.-145A>G, XM_011540372.2:c.237A>G, XM_011540372.1:c.-145A>G, XM_011540373.3:c.-145A>G, XM_011540373.2:c.237A>G, XM_011540373.1:c.-145A>G, XM_017016964.3:c.180A>G, XM_017016964.2:c.180A>G, XM_017016964.1:c.180A>G, XM_017016963.2:c.216A>G, XM_017016963.1:c.216A>G, XM_047426023.1:c.201A>G, XM_047426026.1:c.201A>G, XM_047426024.1:c.201A>G, XM_047426025.1:c.201A>G, XM_047426027.1:c.216A>G, XM_047426028.1:c.216A>G, XM_047426029.1:c.180A>G

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