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Items: 1 to 20 of 159

1.

rs1489499908 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    14:31080644 (GRCh38)
    14:31549850 (GRCh37)
    Canonical SPDI:
    NC_000014.9:31080643:G:A
    Gene:
    AP4S1 (Varview)
    Functional Consequence:
    coding_sequence_variant,intron_variant,synonymous_variant
    Validated:
    by frequency,by cluster
    MAF:
    A=0.00004/1 (TOMMO)
    HGVS:

    2.

    rs1488470578 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      14:31069885 (GRCh38)
      14:31539091 (GRCh37)
      Canonical SPDI:
      NC_000014.9:31069884:C:G
      Gene:
      AP4S1 (Varview)
      Functional Consequence:
      coding_sequence_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)
      G=0.000007/1 (GnomAD)
      HGVS:
      NC_000014.9:g.31069885C>G, NC_000014.8:g.31539091C>G, NG_031913.1:g.49780C>G, NM_007077.5:c.181C>G, NM_007077.4:c.181C>G, NM_001128126.3:c.181C>G, NM_001128126.2:c.181C>G, NM_001254728.2:c.181C>G, NM_001254728.1:c.181C>G, NM_001254729.2:c.181C>G, NM_001254729.1:c.181C>G, NM_001254727.2:c.181C>G, NM_001254727.1:c.181C>G, NM_001254726.2:c.181C>G, NM_001254726.1:c.181C>G, XM_005267293.6:c.181C>G, XM_005267293.5:c.181C>G, XM_005267293.4:c.181C>G, XM_005267293.3:c.181C>G, XM_005267293.2:c.181C>G, XM_005267293.1:c.181C>G, XM_011536372.4:c.181C>G, XM_011536372.3:c.181C>G, XM_011536372.2:c.181C>G, XM_011536372.1:c.181C>G, XM_011536371.4:c.181C>G, XM_011536371.3:c.181C>G, XM_011536371.2:c.181C>G, XM_011536371.1:c.181C>G, NP_009008.2:p.Gln61Glu, NP_001121598.1:p.Gln61Glu, NP_001241657.1:p.Gln61Glu, NP_001241658.1:p.Gln61Glu, NP_001241656.1:p.Gln61Glu, NP_001241655.1:p.Gln61Glu, XP_005267350.1:p.Gln61Glu, XP_011534674.1:p.Gln61Glu, XP_011534673.1:p.Gln61Glu

      3.

      rs1482244592 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        14:31072913 (GRCh38)
        14:31542119 (GRCh37)
        Canonical SPDI:
        NC_000014.9:31072912:G:A
        Gene:
        AP4S1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000014.9:g.31072913G>A, NC_000014.8:g.31542119G>A, NG_031913.1:g.52808G>A, NM_007077.5:c.234G>A, NM_007077.4:c.234G>A, NM_001128126.3:c.234G>A, NM_001128126.2:c.234G>A, NM_001254728.2:c.234G>A, NM_001254728.1:c.234G>A, NM_001254729.2:c.234G>A, NM_001254729.1:c.234G>A, NM_001254727.2:c.234G>A, NM_001254727.1:c.234G>A, NM_001254726.2:c.234G>A, NM_001254726.1:c.234G>A, XM_005267293.6:c.234G>A, XM_005267293.5:c.234G>A, XM_005267293.4:c.234G>A, XM_005267293.3:c.234G>A, XM_005267293.2:c.234G>A, XM_005267293.1:c.234G>A, XM_011536372.4:c.234G>A, XM_011536372.3:c.234G>A, XM_011536372.2:c.234G>A, XM_011536372.1:c.234G>A, XM_011536371.4:c.234G>A, XM_011536371.3:c.234G>A, XM_011536371.2:c.234G>A, XM_011536371.1:c.234G>A, NP_009008.2:p.Met78Ile, NP_001121598.1:p.Met78Ile, NP_001241657.1:p.Met78Ile, NP_001241658.1:p.Met78Ile, NP_001241656.1:p.Met78Ile, NP_001241655.1:p.Met78Ile, XP_005267350.1:p.Met78Ile, XP_011534674.1:p.Met78Ile, XP_011534673.1:p.Met78Ile

        4.

        rs1478499890 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G,T [Show Flanks]
          Chromosome:
          14:31072933 (GRCh38)
          14:31542139 (GRCh37)
          Canonical SPDI:
          NC_000014.9:31072932:A:G,NC_000014.9:31072932:A:T
          Gene:
          AP4S1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          HGVS:
          NC_000014.9:g.31072933A>G, NC_000014.9:g.31072933A>T, NC_000014.8:g.31542139A>G, NC_000014.8:g.31542139A>T, NG_031913.1:g.52828A>G, NG_031913.1:g.52828A>T, NM_007077.5:c.254A>G, NM_007077.5:c.254A>T, NM_007077.4:c.254A>G, NM_007077.4:c.254A>T, NM_001128126.3:c.254A>G, NM_001128126.3:c.254A>T, NM_001128126.2:c.254A>G, NM_001128126.2:c.254A>T, NM_001254728.2:c.254A>G, NM_001254728.2:c.254A>T, NM_001254728.1:c.254A>G, NM_001254728.1:c.254A>T, NM_001254729.2:c.254A>G, NM_001254729.2:c.254A>T, NM_001254729.1:c.254A>G, NM_001254729.1:c.254A>T, NM_001254727.2:c.254A>G, NM_001254727.2:c.254A>T, NM_001254727.1:c.254A>G, NM_001254727.1:c.254A>T, NM_001254726.2:c.254A>G, NM_001254726.2:c.254A>T, NM_001254726.1:c.254A>G, NM_001254726.1:c.254A>T, XM_005267293.6:c.254A>G, XM_005267293.6:c.254A>T, XM_005267293.5:c.254A>G, XM_005267293.5:c.254A>T, XM_005267293.4:c.254A>G, XM_005267293.4:c.254A>T, XM_005267293.3:c.254A>G, XM_005267293.3:c.254A>T, XM_005267293.2:c.254A>G, XM_005267293.2:c.254A>T, XM_005267293.1:c.254A>G, XM_005267293.1:c.254A>T, XM_011536372.4:c.254A>G, XM_011536372.4:c.254A>T, XM_011536372.3:c.254A>G, XM_011536372.3:c.254A>T, XM_011536372.2:c.254A>G, XM_011536372.2:c.254A>T, XM_011536372.1:c.254A>G, XM_011536372.1:c.254A>T, XM_011536371.4:c.254A>G, XM_011536371.4:c.254A>T, XM_011536371.3:c.254A>G, XM_011536371.3:c.254A>T, XM_011536371.2:c.254A>G, XM_011536371.2:c.254A>T, XM_011536371.1:c.254A>G, XM_011536371.1:c.254A>T, NP_009008.2:p.His85Arg, NP_009008.2:p.His85Leu, NP_001121598.1:p.His85Arg, NP_001121598.1:p.His85Leu, NP_001241657.1:p.His85Arg, NP_001241657.1:p.His85Leu, NP_001241658.1:p.His85Arg, NP_001241658.1:p.His85Leu, NP_001241656.1:p.His85Arg, NP_001241656.1:p.His85Leu, NP_001241655.1:p.His85Arg, NP_001241655.1:p.His85Leu, XP_005267350.1:p.His85Arg, XP_005267350.1:p.His85Leu, XP_011534674.1:p.His85Arg, XP_011534674.1:p.His85Leu, XP_011534673.1:p.His85Arg, XP_011534673.1:p.His85Leu

          5.

          rs1474478389 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            14:31084796 (GRCh38)
            14:31554002 (GRCh37)
            Canonical SPDI:
            NC_000014.9:31084795:T:G
            Gene:
            AP4S1 (Varview)
            Functional Consequence:
            3_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_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:

            6.

            rs1464237992 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              14:31084810 (GRCh38)
              14:31554016 (GRCh37)
              Canonical SPDI:
              NC_000014.9:31084809:G:A
              Gene:
              AP4S1 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,synonymous_variant,intron_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000008/2 (TOPMED)
              HGVS:

              7.

              rs1453032723 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                14:31084850 (GRCh38)
                14:31554056 (GRCh37)
                Canonical SPDI:
                NC_000014.9:31084849:A:G
                Gene:
                AP4S1 (Varview)
                Functional Consequence:
                intron_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                G=0.000034/9 (TOPMED)
                HGVS:

                8.

                rs1450119046 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  14:31066226 (GRCh38)
                  14:31535432 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:31066225:A:G
                  Gene:
                  AP4S1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  G=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1437415782 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    14:31066288 (GRCh38)
                    14:31535494 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:31066287:T:C
                    Gene:
                    AP4S1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000014.9:g.31066288T>C, NC_000014.8:g.31535494T>C, NG_031913.1:g.46183T>C, NM_007077.5:c.92T>C, NM_007077.4:c.92T>C, NM_001128126.3:c.92T>C, NM_001128126.2:c.92T>C, NM_001254728.2:c.92T>C, NM_001254728.1:c.92T>C, NM_001254729.2:c.92T>C, NM_001254729.1:c.92T>C, NM_001254727.2:c.92T>C, NM_001254727.1:c.92T>C, NM_001254726.2:c.92T>C, NM_001254726.1:c.92T>C, XM_005267293.6:c.92T>C, XM_005267293.5:c.92T>C, XM_005267293.4:c.92T>C, XM_005267293.3:c.92T>C, XM_005267293.2:c.92T>C, XM_005267293.1:c.92T>C, XM_011536372.4:c.92T>C, XM_011536372.3:c.92T>C, XM_011536372.2:c.92T>C, XM_011536372.1:c.92T>C, XM_011536371.4:c.92T>C, XM_011536371.3:c.92T>C, XM_011536371.2:c.92T>C, XM_011536371.1:c.92T>C, NP_009008.2:p.Leu31Pro, NP_001121598.1:p.Leu31Pro, NP_001241657.1:p.Leu31Pro, NP_001241658.1:p.Leu31Pro, NP_001241656.1:p.Leu31Pro, NP_001241655.1:p.Leu31Pro, XP_005267350.1:p.Leu31Pro, XP_011534674.1:p.Leu31Pro, XP_011534673.1:p.Leu31Pro

                    10.

                    rs1426880097 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      14:31084805 (GRCh38)
                      14:31554011 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:31084804:C:T
                      Gene:
                      AP4S1 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,intron_variant,coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000004/1 (TOPMED)
                      HGVS:

                      11.

                      rs1423696600 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        14:31080601 (GRCh38)
                        14:31549807 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:31080600:C:T
                        Gene:
                        AP4S1 (Varview)
                        Functional Consequence:
                        missense_variant,intron_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1420718718 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          14:31084872 (GRCh38)
                          14:31554078 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:31084871:C:G,NC_000014.9:31084871:C:T
                          Gene:
                          AP4S1 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          G=0.000004/1 (GnomAD_exomes)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000014.9:g.31084872C>G, NC_000014.9:g.31084872C>T, NC_000014.8:g.31554078C>G, NC_000014.8:g.31554078C>T, NG_031913.1:g.64767C>G, NG_031913.1:g.64767C>T, NM_007077.5:c.470C>G, NM_007077.5:c.470C>T, NM_007077.4:c.470C>G, NM_007077.4:c.470C>T, NM_001254727.2:c.*142C>G, NM_001254727.2:c.*142C>T, NM_001254727.1:c.*142C>G, NM_001254727.1:c.*142C>T, NM_001254726.2:c.398C>G, NM_001254726.2:c.398C>T, NM_001254726.1:c.398C>G, NM_001254726.1:c.398C>T, XM_005267293.6:c.470C>G, XM_005267293.6:c.470C>T, XM_005267293.5:c.470C>G, XM_005267293.5:c.470C>T, XM_005267293.4:c.470C>G, XM_005267293.4:c.470C>T, XM_005267293.3:c.470C>G, XM_005267293.3:c.470C>T, XM_005267293.2:c.470C>G, XM_005267293.2:c.470C>T, XM_005267293.1:c.470C>G, XM_005267293.1:c.470C>T, XM_011536372.4:c.470C>G, XM_011536372.4:c.470C>T, XM_011536372.3:c.470C>G, XM_011536372.3:c.470C>T, XM_011536372.2:c.470C>G, XM_011536372.2:c.470C>T, XM_011536372.1:c.470C>G, XM_011536372.1:c.470C>T, XM_011536371.4:c.470C>G, XM_011536371.4:c.470C>T, XM_011536371.3:c.470C>G, XM_011536371.3:c.470C>T, XM_011536371.2:c.470C>G, XM_011536371.2:c.470C>T, XM_011536371.1:c.470C>G, XM_011536371.1:c.470C>T, NP_009008.2:p.Pro157Arg, NP_009008.2:p.Pro157Leu, NP_001241655.1:p.Pro133Arg, NP_001241655.1:p.Pro133Leu, XP_005267350.1:p.Pro157Arg, XP_005267350.1:p.Pro157Leu, XP_011534674.1:p.Pro157Arg, XP_011534674.1:p.Pro157Leu, XP_011534673.1:p.Pro157Arg, XP_011534673.1:p.Pro157Leu

                          13.

                          rs1418794794 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            14:31072952 (GRCh38)
                            14:31542158 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:31072951:A:G
                            Gene:
                            AP4S1 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Clinical significance:
                            likely-benign
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            G=0.000008/2 (TOPMED)
                            G=0.000014/2 (GnomAD)
                            HGVS:

                            14.

                            rs1417565216 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              14:31066218 (GRCh38)
                              14:31535424 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:31066217:G:A
                              Gene:
                              AP4S1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000008/2 (GnomAD_exomes)
                              HGVS:
                              NC_000014.9:g.31066218G>A, NC_000014.8:g.31535424G>A, NG_031913.1:g.46113G>A, NM_007077.5:c.22G>A, NM_007077.4:c.22G>A, NM_001128126.3:c.22G>A, NM_001128126.2:c.22G>A, NM_001254728.2:c.22G>A, NM_001254728.1:c.22G>A, NM_001254729.2:c.22G>A, NM_001254729.1:c.22G>A, NM_001254727.2:c.22G>A, NM_001254727.1:c.22G>A, NM_001254726.2:c.22G>A, NM_001254726.1:c.22G>A, XM_005267293.6:c.22G>A, XM_005267293.5:c.22G>A, XM_005267293.4:c.22G>A, XM_005267293.3:c.22G>A, XM_005267293.2:c.22G>A, XM_005267293.1:c.22G>A, XM_011536372.4:c.22G>A, XM_011536372.3:c.22G>A, XM_011536372.2:c.22G>A, XM_011536372.1:c.22G>A, XM_011536371.4:c.22G>A, XM_011536371.3:c.22G>A, XM_011536371.2:c.22G>A, XM_011536371.1:c.22G>A, NP_009008.2:p.Val8Met, NP_001121598.1:p.Val8Met, NP_001241657.1:p.Val8Met, NP_001241658.1:p.Val8Met, NP_001241656.1:p.Val8Met, NP_001241655.1:p.Val8Met, XP_005267350.1:p.Val8Met, XP_011534674.1:p.Val8Met, XP_011534673.1:p.Val8Met

                              15.

                              rs1407343539 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                14:31066227 (GRCh38)
                                14:31535433 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:31066226:C:G
                                Gene:
                                AP4S1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000014.9:g.31066227C>G, NC_000014.8:g.31535433C>G, NG_031913.1:g.46122C>G, NM_007077.5:c.31C>G, NM_007077.4:c.31C>G, NM_001128126.3:c.31C>G, NM_001128126.2:c.31C>G, NM_001254728.2:c.31C>G, NM_001254728.1:c.31C>G, NM_001254729.2:c.31C>G, NM_001254729.1:c.31C>G, NM_001254727.2:c.31C>G, NM_001254727.1:c.31C>G, NM_001254726.2:c.31C>G, NM_001254726.1:c.31C>G, XM_005267293.6:c.31C>G, XM_005267293.5:c.31C>G, XM_005267293.4:c.31C>G, XM_005267293.3:c.31C>G, XM_005267293.2:c.31C>G, XM_005267293.1:c.31C>G, XM_011536372.4:c.31C>G, XM_011536372.3:c.31C>G, XM_011536372.2:c.31C>G, XM_011536372.1:c.31C>G, XM_011536371.4:c.31C>G, XM_011536371.3:c.31C>G, XM_011536371.2:c.31C>G, XM_011536371.1:c.31C>G, NP_009008.2:p.Gln11Glu, NP_001121598.1:p.Gln11Glu, NP_001241657.1:p.Gln11Glu, NP_001241658.1:p.Gln11Glu, NP_001241656.1:p.Gln11Glu, NP_001241655.1:p.Gln11Glu, XP_005267350.1:p.Gln11Glu, XP_011534674.1:p.Gln11Glu, XP_011534673.1:p.Gln11Glu

                                16.

                                rs1407285970 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  14:31069853 (GRCh38)
                                  14:31539059 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:31069852:T:C
                                  Gene:
                                  AP4S1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000012/3 (GnomAD_exomes)
                                  HGVS:
                                  NC_000014.9:g.31069853T>C, NC_000014.8:g.31539059T>C, NG_031913.1:g.49748T>C, NM_007077.5:c.149T>C, NM_007077.4:c.149T>C, NM_001128126.3:c.149T>C, NM_001128126.2:c.149T>C, NM_001254728.2:c.149T>C, NM_001254728.1:c.149T>C, NM_001254729.2:c.149T>C, NM_001254729.1:c.149T>C, NM_001254727.2:c.149T>C, NM_001254727.1:c.149T>C, NM_001254726.2:c.149T>C, NM_001254726.1:c.149T>C, XM_005267293.6:c.149T>C, XM_005267293.5:c.149T>C, XM_005267293.4:c.149T>C, XM_005267293.3:c.149T>C, XM_005267293.2:c.149T>C, XM_005267293.1:c.149T>C, XM_011536372.4:c.149T>C, XM_011536372.3:c.149T>C, XM_011536372.2:c.149T>C, XM_011536372.1:c.149T>C, XM_011536371.4:c.149T>C, XM_011536371.3:c.149T>C, XM_011536371.2:c.149T>C, XM_011536371.1:c.149T>C, NP_009008.2:p.Ile50Thr, NP_001121598.1:p.Ile50Thr, NP_001241657.1:p.Ile50Thr, NP_001241658.1:p.Ile50Thr, NP_001241656.1:p.Ile50Thr, NP_001241655.1:p.Ile50Thr, XP_005267350.1:p.Ile50Thr, XP_011534674.1:p.Ile50Thr, XP_011534673.1:p.Ile50Thr

                                  17.

                                  rs1402600124 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    14:31066298 (GRCh38)
                                    14:31535504 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:31066297:A:C
                                    Gene:
                                    AP4S1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000014.9:g.31066298A>C, NC_000014.8:g.31535504A>C, NG_031913.1:g.46193A>C, NM_007077.5:c.102A>C, NM_007077.4:c.102A>C, NM_001128126.3:c.102A>C, NM_001128126.2:c.102A>C, NM_001254728.2:c.102A>C, NM_001254728.1:c.102A>C, NM_001254729.2:c.102A>C, NM_001254729.1:c.102A>C, NM_001254727.2:c.102A>C, NM_001254727.1:c.102A>C, NM_001254726.2:c.102A>C, NM_001254726.1:c.102A>C, XM_005267293.6:c.102A>C, XM_005267293.5:c.102A>C, XM_005267293.4:c.102A>C, XM_005267293.3:c.102A>C, XM_005267293.2:c.102A>C, XM_005267293.1:c.102A>C, XM_011536372.4:c.102A>C, XM_011536372.3:c.102A>C, XM_011536372.2:c.102A>C, XM_011536372.1:c.102A>C, XM_011536371.4:c.102A>C, XM_011536371.3:c.102A>C, XM_011536371.2:c.102A>C, XM_011536371.1:c.102A>C, NP_009008.2:p.Glu34Asp, NP_001121598.1:p.Glu34Asp, NP_001241657.1:p.Glu34Asp, NP_001241658.1:p.Glu34Asp, NP_001241656.1:p.Glu34Asp, NP_001241655.1:p.Glu34Asp, XP_005267350.1:p.Glu34Asp, XP_011534674.1:p.Glu34Asp, XP_011534673.1:p.Glu34Asp

                                    18.

                                    rs1391726302 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      14:31084799 (GRCh38)
                                      14:31554005 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:31084798:T:G
                                      Gene:
                                      AP4S1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,intron_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:

                                      19.

                                      rs1389189359 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        14:31080607 (GRCh38)
                                        14:31549813 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:31080606:T:C
                                        Gene:
                                        AP4S1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000071/1 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1375901700 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          14:31084791 (GRCh38)
                                          14:31553997 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:31084790:A:G
                                          Gene:
                                          AP4S1 (Varview)
                                          Functional Consequence:
                                          intron_variant,3_prime_UTR_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000015/4 (TOPMED)
                                          HGVS:

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