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Items: 1 to 20 of 229

1.

rs1490658860 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    9:135564269 (GRCh38)
    9:138456115 (GRCh37)
    Canonical SPDI:
    NC_000009.12:135564268:G:A
    Gene:
    PAEP (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,intron_variant
    HGVS:

    2.

    rs1489839935 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      9:135565456 (GRCh38)
      9:138457302 (GRCh37)
      Canonical SPDI:
      NC_000009.12:135565455:G:A
      Gene:
      PAEP (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:

      3.

      rs1489162387 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        9:135565465 (GRCh38)
        9:138457311 (GRCh37)
        Canonical SPDI:
        NC_000009.12:135565464:G:A
        Gene:
        PAEP (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:

        4.

        rs1486872705 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          9:135562884 (GRCh38)
          9:138454730 (GRCh37)
          Canonical SPDI:
          NC_000009.12:135562883:A:C
          Gene:
          PAEP (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,missense_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_000009.12:g.135562884A>C, NC_000009.11:g.138454730A>C, NM_002571.4:c.301A>C, NM_002571.3:c.301A>C, NM_002571.2:c.301A>C, XM_011518746.3:c.301A>C, XM_011518746.2:c.301A>C, XM_011518746.1:c.301A>C, XM_011518745.3:c.301A>C, XM_011518745.2:c.301A>C, XM_011518745.1:c.301A>C, NM_001018049.3:c.301A>C, NM_001018049.2:c.301A>C, NM_001018049.1:c.301A>C, XM_011518752.3:c.301A>C, XM_011518752.2:c.301A>C, XM_011518752.1:c.301A>C, XM_011518748.2:c.235A>C, XM_011518748.1:c.235A>C, XM_011518751.2:c.235A>C, XM_011518751.1:c.235A>C, NM_001018048.2:c.235A>C, NM_001018048.1:c.235A>C, XM_011518747.2:c.301A>C, XM_011518747.1:c.301A>C, XM_011518749.2:c.301A>C, XM_011518749.1:c.301A>C, XM_017014783.2:c.301A>C, XM_017014783.1:c.301A>C, NP_002562.2:p.Lys101Gln, XP_011517048.1:p.Lys101Gln, XP_011517047.1:p.Lys101Gln, NP_001018059.1:p.Lys101Gln, XP_011517054.1:p.Lys101Gln, XP_011517050.1:p.Lys79Gln, XP_011517053.1:p.Lys79Gln, NP_001018058.1:p.Lys79Gln, XP_011517049.1:p.Lys101Gln, XP_011517051.1:p.Lys101Gln, XP_016870272.1:p.Lys101Gln

          5.

          rs1481061122 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            9:135562329 (GRCh38)
            9:138454175 (GRCh37)
            Canonical SPDI:
            NC_000009.12:135562328:C:T
            Gene:
            PAEP (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,intron_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:

            6.

            rs1479416060 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              9:135562341 (GRCh38)
              9:138454187 (GRCh37)
              Canonical SPDI:
              NC_000009.12:135562340:C:T
              Gene:
              PAEP (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,intron_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:

              7.

              rs1476719700 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                9:135562399 (GRCh38)
                9:138454245 (GRCh37)
                Canonical SPDI:
                NC_000009.12:135562398:C:G
                Gene:
                PAEP (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000009.12:g.135562399C>G, NC_000009.11:g.138454245C>G, NM_002571.4:c.202C>G, NM_002571.3:c.202C>G, NM_002571.2:c.202C>G, XM_011518746.3:c.202C>G, XM_011518746.2:c.202C>G, XM_011518746.1:c.202C>G, XM_011518745.3:c.202C>G, XM_011518745.2:c.202C>G, XM_011518745.1:c.202C>G, NM_001018049.3:c.202C>G, NM_001018049.2:c.202C>G, NM_001018049.1:c.202C>G, XM_011518752.3:c.202C>G, XM_011518752.2:c.202C>G, XM_011518752.1:c.202C>G, XM_011518748.2:c.136C>G, XM_011518748.1:c.136C>G, XM_011518751.2:c.136C>G, XM_011518751.1:c.136C>G, NM_001018048.2:c.136C>G, NM_001018048.1:c.136C>G, XM_011518747.2:c.202C>G, XM_011518747.1:c.202C>G, XM_011518749.2:c.202C>G, XM_011518749.1:c.202C>G, XM_017014783.2:c.202C>G, XM_017014783.1:c.202C>G, NP_002562.2:p.Pro68Ala, XP_011517048.1:p.Pro68Ala, XP_011517047.1:p.Pro68Ala, NP_001018059.1:p.Pro68Ala, XP_011517054.1:p.Pro68Ala, XP_011517050.1:p.Pro46Ala, XP_011517053.1:p.Pro46Ala, NP_001018058.1:p.Pro46Ala, XP_011517049.1:p.Pro68Ala, XP_011517051.1:p.Pro68Ala, XP_016870272.1:p.Pro68Ala

                8.

                rs1471935511 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  9:135561864 (GRCh38)
                  9:138453710 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:135561863:C:T
                  Gene:
                  PAEP (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000011/2 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1470657653 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    9:135562347 (GRCh38)
                    9:138454193 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:135562346:G:C
                    Gene:
                    PAEP (Varview)
                    Functional Consequence:
                    coding_sequence_variant,intron_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:

                    10.

                    rs1470452230 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C,G [Show Flanks]
                      Chromosome:
                      9:135561895 (GRCh38)
                      9:138453741 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:135561894:A:C,NC_000009.12:135561894:A:G
                      Gene:
                      PAEP (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000009.12:g.135561895A>C, NC_000009.12:g.135561895A>G, NC_000009.11:g.138453741A>C, NC_000009.11:g.138453741A>G, NM_002571.4:c.94A>C, NM_002571.4:c.94A>G, NM_002571.3:c.94A>C, NM_002571.3:c.94A>G, NM_002571.2:c.94A>C, NM_002571.2:c.94A>G, XM_011518746.3:c.94A>C, XM_011518746.3:c.94A>G, XM_011518746.2:c.94A>C, XM_011518746.2:c.94A>G, XM_011518746.1:c.94A>C, XM_011518746.1:c.94A>G, XM_011518745.3:c.94A>C, XM_011518745.3:c.94A>G, XM_011518745.2:c.94A>C, XM_011518745.2:c.94A>G, XM_011518745.1:c.94A>C, XM_011518745.1:c.94A>G, NM_001018049.3:c.94A>C, NM_001018049.3:c.94A>G, NM_001018049.2:c.94A>C, NM_001018049.2:c.94A>G, NM_001018049.1:c.94A>C, NM_001018049.1:c.94A>G, XM_011518752.3:c.94A>C, XM_011518752.3:c.94A>G, XM_011518752.2:c.94A>C, XM_011518752.2:c.94A>G, XM_011518752.1:c.94A>C, XM_011518752.1:c.94A>G, XM_017014782.3:c.94A>C, XM_017014782.3:c.94A>G, XM_017014782.2:c.94A>C, XM_017014782.2:c.94A>G, XM_017014782.1:c.94A>C, XM_017014782.1:c.94A>G, XM_011518748.2:c.94A>C, XM_011518748.2:c.94A>G, XM_011518748.1:c.94A>C, XM_011518748.1:c.94A>G, XM_011518751.2:c.94A>C, XM_011518751.2:c.94A>G, XM_011518751.1:c.94A>C, XM_011518751.1:c.94A>G, NM_001018048.2:c.94A>C, NM_001018048.2:c.94A>G, NM_001018048.1:c.94A>C, NM_001018048.1:c.94A>G, XM_011518747.2:c.94A>C, XM_011518747.2:c.94A>G, XM_011518747.1:c.94A>C, XM_011518747.1:c.94A>G, XM_011518749.2:c.94A>C, XM_011518749.2:c.94A>G, XM_011518749.1:c.94A>C, XM_011518749.1:c.94A>G, XM_017014783.2:c.94A>C, XM_017014783.2:c.94A>G, XM_017014783.1:c.94A>C, XM_017014783.1:c.94A>G, NP_002562.2:p.Lys32Gln, NP_002562.2:p.Lys32Glu, XP_011517048.1:p.Lys32Gln, XP_011517048.1:p.Lys32Glu, XP_011517047.1:p.Lys32Gln, XP_011517047.1:p.Lys32Glu, NP_001018059.1:p.Lys32Gln, NP_001018059.1:p.Lys32Glu, XP_011517054.1:p.Lys32Gln, XP_011517054.1:p.Lys32Glu, XP_016870271.1:p.Lys32Gln, XP_016870271.1:p.Lys32Glu, XP_011517050.1:p.Lys32Gln, XP_011517050.1:p.Lys32Glu, XP_011517053.1:p.Lys32Gln, XP_011517053.1:p.Lys32Glu, NP_001018058.1:p.Lys32Gln, NP_001018058.1:p.Lys32Glu, XP_011517049.1:p.Lys32Gln, XP_011517049.1:p.Lys32Glu, XP_011517051.1:p.Lys32Gln, XP_011517051.1:p.Lys32Glu, XP_016870272.1:p.Lys32Gln, XP_016870272.1:p.Lys32Glu

                      11.

                      rs1462129489 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        C>- [Show Flanks]
                        Chromosome:
                        9:135562352 (GRCh38)
                        9:138454198 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:135562351:C:
                        Gene:
                        PAEP (Varview)
                        Functional Consequence:
                        intron_variant,frameshift_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        -=0./0 (ALFA)
                        -=0.000004/1 (GnomAD_exomes)
                        -=0.000007/1 (GnomAD)
                        -=0.000008/2 (TOPMED)
                        HGVS:

                        12.

                        rs1461527722 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          9:135561808 (GRCh38)
                          9:138453654 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:135561807:T:C
                          Gene:
                          PAEP (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          HGVS:
                          NC_000009.12:g.135561808T>C, NC_000009.11:g.138453654T>C, NM_002571.4:c.7T>C, NM_002571.3:c.7T>C, NM_002571.2:c.7T>C, XM_011518746.3:c.7T>C, XM_011518746.2:c.7T>C, XM_011518746.1:c.7T>C, XM_011518745.3:c.7T>C, XM_011518745.2:c.7T>C, XM_011518745.1:c.7T>C, NM_001018049.3:c.7T>C, NM_001018049.2:c.7T>C, NM_001018049.1:c.7T>C, XM_011518752.3:c.7T>C, XM_011518752.2:c.7T>C, XM_011518752.1:c.7T>C, XM_017014782.3:c.7T>C, XM_017014782.2:c.7T>C, XM_017014782.1:c.7T>C, XM_011518748.2:c.7T>C, XM_011518748.1:c.7T>C, XM_011518751.2:c.7T>C, XM_011518751.1:c.7T>C, NM_001018048.2:c.7T>C, NM_001018048.1:c.7T>C, XM_011518747.2:c.7T>C, XM_011518747.1:c.7T>C, XM_011518749.2:c.7T>C, XM_011518749.1:c.7T>C, XM_017014783.2:c.7T>C, XM_017014783.1:c.7T>C, NP_002562.2:p.Cys3Arg, XP_011517048.1:p.Cys3Arg, XP_011517047.1:p.Cys3Arg, NP_001018059.1:p.Cys3Arg, XP_011517054.1:p.Cys3Arg, XP_016870271.1:p.Cys3Arg, XP_011517050.1:p.Cys3Arg, XP_011517053.1:p.Cys3Arg, NP_001018058.1:p.Cys3Arg, XP_011517049.1:p.Cys3Arg, XP_011517051.1:p.Cys3Arg, XP_016870272.1:p.Cys3Arg

                          13.

                          rs1460152976 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            9:135564337 (GRCh38)
                            9:138456183 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:135564336:T:G
                            Gene:
                            PAEP (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000006/1 (GnomAD_exomes)
                            HGVS:
                            NC_000009.12:g.135564337T>G, NC_000009.11:g.138456183T>G, NM_002571.4:c.404T>G, NM_002571.3:c.404T>G, NM_002571.2:c.404T>G, XM_011518746.3:c.404T>G, XM_011518746.2:c.404T>G, XM_011518746.1:c.404T>G, XM_011518745.3:c.404T>G, XM_011518745.2:c.404T>G, XM_011518745.1:c.404T>G, NM_001018049.3:c.404T>G, NM_001018049.2:c.404T>G, NM_001018049.1:c.404T>G, XM_017014782.3:c.122T>G, XM_017014782.2:c.122T>G, XM_017014782.1:c.122T>G, XM_011518748.2:c.338T>G, XM_011518748.1:c.338T>G, XM_011518751.2:c.338T>G, XM_011518751.1:c.338T>G, NM_001018048.2:c.338T>G, NM_001018048.1:c.338T>G, XM_011518747.2:c.404T>G, XM_011518747.1:c.404T>G, XM_011518749.2:c.404T>G, XM_011518749.1:c.404T>G, XM_017014783.2:c.*24T>G, XM_017014783.1:c.*24T>G, NP_002562.2:p.Met135Arg, XP_011517048.1:p.Met135Arg, XP_011517047.1:p.Met135Arg, NP_001018059.1:p.Met135Arg, XP_016870271.1:p.Met41Arg, XP_011517050.1:p.Met113Arg, XP_011517053.1:p.Met113Arg, NP_001018058.1:p.Met113Arg, XP_011517049.1:p.Met135Arg, XP_011517051.1:p.Met135Arg

                            14.

                            rs1458406267 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              9:135564297 (GRCh38)
                              9:138456143 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:135564296:T:C
                              Gene:
                              PAEP (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,missense_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_000009.12:g.135564297T>C, NC_000009.11:g.138456143T>C, NM_002571.4:c.364T>C, NM_002571.3:c.364T>C, NM_002571.2:c.364T>C, XM_011518746.3:c.364T>C, XM_011518746.2:c.364T>C, XM_011518746.1:c.364T>C, XM_011518745.3:c.364T>C, XM_011518745.2:c.364T>C, XM_011518745.1:c.364T>C, NM_001018049.3:c.364T>C, NM_001018049.2:c.364T>C, NM_001018049.1:c.364T>C, XM_011518748.2:c.298T>C, XM_011518748.1:c.298T>C, XM_011518751.2:c.298T>C, XM_011518751.1:c.298T>C, NM_001018048.2:c.298T>C, NM_001018048.1:c.298T>C, XM_011518747.2:c.364T>C, XM_011518747.1:c.364T>C, XM_011518749.2:c.364T>C, XM_011518749.1:c.364T>C, NP_002562.2:p.Phe122Leu, XP_011517048.1:p.Phe122Leu, XP_011517047.1:p.Phe122Leu, NP_001018059.1:p.Phe122Leu, XP_011517050.1:p.Phe100Leu, XP_011517053.1:p.Phe100Leu, NP_001018058.1:p.Phe100Leu, XP_011517049.1:p.Phe122Leu, XP_011517051.1:p.Phe122Leu

                              15.

                              rs1456695134 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                9:135561812 (GRCh38)
                                9:138453658 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:135561811:T:A
                                Gene:
                                PAEP (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000009.12:g.135561812T>A, NC_000009.11:g.138453658T>A, NM_002571.4:c.11T>A, NM_002571.3:c.11T>A, NM_002571.2:c.11T>A, XM_011518746.3:c.11T>A, XM_011518746.2:c.11T>A, XM_011518746.1:c.11T>A, XM_011518745.3:c.11T>A, XM_011518745.2:c.11T>A, XM_011518745.1:c.11T>A, NM_001018049.3:c.11T>A, NM_001018049.2:c.11T>A, NM_001018049.1:c.11T>A, XM_011518752.3:c.11T>A, XM_011518752.2:c.11T>A, XM_011518752.1:c.11T>A, XM_017014782.3:c.11T>A, XM_017014782.2:c.11T>A, XM_017014782.1:c.11T>A, XM_011518748.2:c.11T>A, XM_011518748.1:c.11T>A, XM_011518751.2:c.11T>A, XM_011518751.1:c.11T>A, NM_001018048.2:c.11T>A, NM_001018048.1:c.11T>A, XM_011518747.2:c.11T>A, XM_011518747.1:c.11T>A, XM_011518749.2:c.11T>A, XM_011518749.1:c.11T>A, XM_017014783.2:c.11T>A, XM_017014783.1:c.11T>A, NP_002562.2:p.Leu4His, XP_011517048.1:p.Leu4His, XP_011517047.1:p.Leu4His, NP_001018059.1:p.Leu4His, XP_011517054.1:p.Leu4His, XP_016870271.1:p.Leu4His, XP_011517050.1:p.Leu4His, XP_011517053.1:p.Leu4His, NP_001018058.1:p.Leu4His, XP_011517049.1:p.Leu4His, XP_011517051.1:p.Leu4His, XP_016870272.1:p.Leu4His

                                16.

                                rs1437461350 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  9:135565514 (GRCh38)
                                  9:138457360 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:135565513:G:A,NC_000009.12:135565513:G:T
                                  Gene:
                                  PAEP (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,stop_gained,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000009.12:g.135565514G>A, NC_000009.12:g.135565514G>T, NC_000009.11:g.138457360G>A, NC_000009.11:g.138457360G>T, NM_002571.4:c.526G>A, NM_002571.4:c.526G>T, NM_002571.3:c.526G>A, NM_002571.3:c.526G>T, NM_002571.2:c.526G>A, NM_002571.2:c.526G>T, XM_011518746.3:c.598G>A, XM_011518746.3:c.598G>T, XM_011518746.2:c.598G>A, XM_011518746.2:c.598G>T, XM_011518746.1:c.598G>A, XM_011518746.1:c.598G>T, XM_011518745.3:c.598G>A, XM_011518745.3:c.598G>T, XM_011518745.2:c.598G>A, XM_011518745.2:c.598G>T, XM_011518745.1:c.598G>A, XM_011518745.1:c.598G>T, NM_001018049.3:c.526G>A, NM_001018049.3:c.526G>T, NM_001018049.2:c.526G>A, NM_001018049.2:c.526G>T, NM_001018049.1:c.526G>A, NM_001018049.1:c.526G>T, XM_011518752.3:c.415G>A, XM_011518752.3:c.415G>T, XM_011518752.2:c.415G>A, XM_011518752.2:c.415G>T, XM_011518752.1:c.415G>A, XM_011518752.1:c.415G>T, XM_017014782.3:c.316G>A, XM_017014782.3:c.316G>T, XM_017014782.2:c.316G>A, XM_017014782.2:c.316G>T, XM_017014782.1:c.316G>A, XM_017014782.1:c.316G>T, XM_011518748.2:c.532G>A, XM_011518748.2:c.532G>T, XM_011518748.1:c.532G>A, XM_011518748.1:c.532G>T, XM_011518751.2:c.460G>A, XM_011518751.2:c.460G>T, XM_011518751.1:c.460G>A, XM_011518751.1:c.460G>T, NM_001018048.2:c.460G>A, NM_001018048.2:c.460G>T, NM_001018048.1:c.460G>A, NM_001018048.1:c.460G>T, XM_011518747.2:c.598G>A, XM_011518747.2:c.598G>T, XM_011518747.1:c.598G>A, XM_011518747.1:c.598G>T, XM_011518749.2:c.526G>A, XM_011518749.2:c.526G>T, XM_011518749.1:c.526G>A, XM_011518749.1:c.526G>T, NP_002562.2:p.Glu176Lys, NP_002562.2:p.Glu176Ter, XP_011517048.1:p.Glu200Lys, XP_011517048.1:p.Glu200Ter, XP_011517047.1:p.Glu200Lys, XP_011517047.1:p.Glu200Ter, NP_001018059.1:p.Glu176Lys, NP_001018059.1:p.Glu176Ter, XP_011517054.1:p.Glu139Lys, XP_011517054.1:p.Glu139Ter, XP_016870271.1:p.Glu106Lys, XP_016870271.1:p.Glu106Ter, XP_011517050.1:p.Glu178Lys, XP_011517050.1:p.Glu178Ter, XP_011517053.1:p.Glu154Lys, XP_011517053.1:p.Glu154Ter, NP_001018058.1:p.Glu154Lys, NP_001018058.1:p.Glu154Ter, XP_011517049.1:p.Glu200Lys, XP_011517049.1:p.Glu200Ter, XP_011517051.1:p.Glu176Lys, XP_011517051.1:p.Glu176Ter

                                  17.

                                  rs1428397069 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    9:135561860 (GRCh38)
                                    9:138453706 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:135561859:A:T
                                    Gene:
                                    PAEP (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000006/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000009.12:g.135561860A>T, NC_000009.11:g.138453706A>T, NM_002571.4:c.59A>T, NM_002571.3:c.59A>T, NM_002571.2:c.59A>T, XM_011518746.3:c.59A>T, XM_011518746.2:c.59A>T, XM_011518746.1:c.59A>T, XM_011518745.3:c.59A>T, XM_011518745.2:c.59A>T, XM_011518745.1:c.59A>T, NM_001018049.3:c.59A>T, NM_001018049.2:c.59A>T, NM_001018049.1:c.59A>T, XM_011518752.3:c.59A>T, XM_011518752.2:c.59A>T, XM_011518752.1:c.59A>T, XM_017014782.3:c.59A>T, XM_017014782.2:c.59A>T, XM_017014782.1:c.59A>T, XM_011518748.2:c.59A>T, XM_011518748.1:c.59A>T, XM_011518751.2:c.59A>T, XM_011518751.1:c.59A>T, NM_001018048.2:c.59A>T, NM_001018048.1:c.59A>T, XM_011518747.2:c.59A>T, XM_011518747.1:c.59A>T, XM_011518749.2:c.59A>T, XM_011518749.1:c.59A>T, XM_017014783.2:c.59A>T, XM_017014783.1:c.59A>T, NP_002562.2:p.Asp20Val, XP_011517048.1:p.Asp20Val, XP_011517047.1:p.Asp20Val, NP_001018059.1:p.Asp20Val, XP_011517054.1:p.Asp20Val, XP_016870271.1:p.Asp20Val, XP_011517050.1:p.Asp20Val, XP_011517053.1:p.Asp20Val, NP_001018058.1:p.Asp20Val, XP_011517049.1:p.Asp20Val, XP_011517051.1:p.Asp20Val, XP_016870272.1:p.Asp20Val

                                    18.

                                    rs1425037642 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      9:135561870 (GRCh38)
                                      9:138453716 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:135561869:G:C
                                      Gene:
                                      PAEP (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000006/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000009.12:g.135561870G>C, NC_000009.11:g.138453716G>C, NM_002571.4:c.69G>C, NM_002571.3:c.69G>C, NM_002571.2:c.69G>C, XM_011518746.3:c.69G>C, XM_011518746.2:c.69G>C, XM_011518746.1:c.69G>C, XM_011518745.3:c.69G>C, XM_011518745.2:c.69G>C, XM_011518745.1:c.69G>C, NM_001018049.3:c.69G>C, NM_001018049.2:c.69G>C, NM_001018049.1:c.69G>C, XM_011518752.3:c.69G>C, XM_011518752.2:c.69G>C, XM_011518752.1:c.69G>C, XM_017014782.3:c.69G>C, XM_017014782.2:c.69G>C, XM_017014782.1:c.69G>C, XM_011518748.2:c.69G>C, XM_011518748.1:c.69G>C, XM_011518751.2:c.69G>C, XM_011518751.1:c.69G>C, NM_001018048.2:c.69G>C, NM_001018048.1:c.69G>C, XM_011518747.2:c.69G>C, XM_011518747.1:c.69G>C, XM_011518749.2:c.69G>C, XM_011518749.1:c.69G>C, XM_017014783.2:c.69G>C, XM_017014783.1:c.69G>C, NP_002562.2:p.Gln23His, XP_011517048.1:p.Gln23His, XP_011517047.1:p.Gln23His, NP_001018059.1:p.Gln23His, XP_011517054.1:p.Gln23His, XP_016870271.1:p.Gln23His, XP_011517050.1:p.Gln23His, XP_011517053.1:p.Gln23His, NP_001018058.1:p.Gln23His, XP_011517049.1:p.Gln23His, XP_011517051.1:p.Gln23His, XP_016870272.1:p.Gln23His

                                      19.

                                      rs1424393979 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        9:135562433 (GRCh38)
                                        9:138454279 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:135562432:G:A
                                        Gene:
                                        PAEP (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,stop_gained,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000011/3 (TOPMED)
                                        A=0.00002/5 (GnomAD_exomes)
                                        HGVS:
                                        NC_000009.12:g.135562433G>A, NC_000009.11:g.138454279G>A, NM_002571.4:c.236G>A, NM_002571.3:c.236G>A, NM_002571.2:c.236G>A, XM_011518746.3:c.236G>A, XM_011518746.2:c.236G>A, XM_011518746.1:c.236G>A, XM_011518745.3:c.236G>A, XM_011518745.2:c.236G>A, XM_011518745.1:c.236G>A, NM_001018049.3:c.236G>A, NM_001018049.2:c.236G>A, NM_001018049.1:c.236G>A, XM_011518752.3:c.236G>A, XM_011518752.2:c.236G>A, XM_011518752.1:c.236G>A, XM_011518748.2:c.170G>A, XM_011518748.1:c.170G>A, XM_011518751.2:c.170G>A, XM_011518751.1:c.170G>A, NM_001018048.2:c.170G>A, NM_001018048.1:c.170G>A, XM_011518747.2:c.236G>A, XM_011518747.1:c.236G>A, XM_011518749.2:c.236G>A, XM_011518749.1:c.236G>A, XM_017014783.2:c.236G>A, XM_017014783.1:c.236G>A, NP_002562.2:p.Trp79Ter, XP_011517048.1:p.Trp79Ter, XP_011517047.1:p.Trp79Ter, NP_001018059.1:p.Trp79Ter, XP_011517054.1:p.Trp79Ter, XP_011517050.1:p.Trp57Ter, XP_011517053.1:p.Trp57Ter, NP_001018058.1:p.Trp57Ter, XP_011517049.1:p.Trp79Ter, XP_011517051.1:p.Trp79Ter, XP_016870272.1:p.Trp79Ter

                                        20.

                                        rs1424145039 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          9:135564352 (GRCh38)
                                          9:138456198 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:135564351:T:C
                                          Gene:
                                          PAEP (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000019/3 (GnomAD_exomes)
                                          C=0.000019/5 (TOPMED)
                                          C=0.000036/5 (GnomAD)
                                          HGVS:
                                          NC_000009.12:g.135564352T>C, NC_000009.11:g.138456198T>C, NM_002571.4:c.419T>C, NM_002571.3:c.419T>C, NM_002571.2:c.419T>C, XM_011518746.3:c.419T>C, XM_011518746.2:c.419T>C, XM_011518746.1:c.419T>C, XM_011518745.3:c.419T>C, XM_011518745.2:c.419T>C, XM_011518745.1:c.419T>C, NM_001018049.3:c.419T>C, NM_001018049.2:c.419T>C, NM_001018049.1:c.419T>C, XM_017014782.3:c.137T>C, XM_017014782.2:c.137T>C, XM_017014782.1:c.137T>C, XM_011518748.2:c.353T>C, XM_011518748.1:c.353T>C, XM_011518751.2:c.353T>C, XM_011518751.1:c.353T>C, NM_001018048.2:c.353T>C, NM_001018048.1:c.353T>C, XM_011518747.2:c.419T>C, XM_011518747.1:c.419T>C, XM_011518749.2:c.419T>C, XM_011518749.1:c.419T>C, NP_002562.2:p.Leu140Pro, XP_011517048.1:p.Leu140Pro, XP_011517047.1:p.Leu140Pro, NP_001018059.1:p.Leu140Pro, XP_016870271.1:p.Leu46Pro, XP_011517050.1:p.Leu118Pro, XP_011517053.1:p.Leu118Pro, NP_001018058.1:p.Leu118Pro, XP_011517049.1:p.Leu140Pro, XP_011517051.1:p.Leu140Pro

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