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Items: 1 to 20 of 622

1.

rs1489562539 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    11:61542484 (GRCh38)
    11:61309956 (GRCh37)
    Canonical SPDI:
    NC_000011.10:61542483:C:T
    Gene:
    SYT7 (Varview)
    Functional Consequence:
    missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    NC_000011.10:g.61542484C>T, NC_000011.9:g.61309956C>T, XM_005274385.5:c.443G>A, XM_005274385.4:c.443G>A, XM_005274385.3:c.443G>A, XM_005274385.2:c.443G>A, XM_005274385.1:c.443G>A, XM_005274384.3:c.536G>A, XM_005274384.2:c.536G>A, XM_005274384.1:c.536G>A, XM_011545335.3:c.686G>A, XM_011545335.2:c.686G>A, XM_011545335.1:c.686G>A, XM_011545336.3:c.686G>A, XM_011545336.2:c.686G>A, XM_011545336.1:c.686G>A, XM_011545337.3:c.554G>A, XM_011545337.2:c.554G>A, XM_011545337.1:c.554G>A, XM_011545338.3:c.461G>A, XM_011545338.2:c.461G>A, XM_011545338.1:c.461G>A, XM_011545342.3:c.686G>A, XM_011545342.2:c.686G>A, XM_011545342.1:c.686G>A, NM_001365809.2:c.668G>A, NM_001365809.1:c.668G>A, NM_001370210.1:c.230G>A, XP_005274442.1:p.Arg148Gln, XP_005274441.1:p.Arg179Gln, XP_011543637.1:p.Arg229Gln, XP_011543638.1:p.Arg229Gln, XP_011543639.1:p.Arg185Gln, XP_011543640.1:p.Arg154Gln, XP_011543644.1:p.Arg229Gln, NP_001352738.1:p.Arg223Gln, NP_001357139.1:p.Arg77Gln

    2.

    rs1488593786 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      11:61546134 (GRCh38)
      11:61313606 (GRCh37)
      Canonical SPDI:
      NC_000011.10:61546133:C:A,NC_000011.10:61546133:C:T
      Gene:
      SYT7 (Varview)
      Functional Consequence:
      missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      T=0.000023/6 (TOPMED)
      T=0.000035/1 (TOMMO)
      C=0.5/1 (SGDP_PRJ)
      HGVS:
      NC_000011.10:g.61546134C>A, NC_000011.10:g.61546134C>T, NC_000011.9:g.61313606C>A, NC_000011.9:g.61313606C>T, XM_005274384.3:c.337G>T, XM_005274384.3:c.337G>A, XM_005274384.2:c.337G>T, XM_005274384.2:c.337G>A, XM_005274384.1:c.337G>T, XM_005274384.1:c.337G>A, XM_011545335.3:c.487G>T, XM_011545335.3:c.487G>A, XM_011545335.2:c.487G>T, XM_011545335.2:c.487G>A, XM_011545335.1:c.487G>T, XM_011545335.1:c.487G>A, XM_011545336.3:c.487G>T, XM_011545336.3:c.487G>A, XM_011545336.2:c.487G>T, XM_011545336.2:c.487G>A, XM_011545336.1:c.487G>T, XM_011545336.1:c.487G>A, XM_011545337.3:c.355G>T, XM_011545337.3:c.355G>A, XM_011545337.2:c.355G>T, XM_011545337.2:c.355G>A, XM_011545337.1:c.355G>T, XM_011545337.1:c.355G>A, XM_011545339.3:c.487G>T, XM_011545339.3:c.487G>A, XM_011545339.2:c.487G>T, XM_011545339.2:c.487G>A, XM_011545339.1:c.487G>T, XM_011545339.1:c.487G>A, XM_011545340.3:c.355G>T, XM_011545340.3:c.355G>A, XM_011545340.2:c.355G>T, XM_011545340.2:c.355G>A, XM_011545340.1:c.355G>T, XM_011545340.1:c.355G>A, XM_011545342.3:c.487G>T, XM_011545342.3:c.487G>A, XM_011545342.2:c.487G>T, XM_011545342.2:c.487G>A, XM_011545342.1:c.487G>T, XM_011545342.1:c.487G>A, NM_001365809.2:c.469G>T, NM_001365809.2:c.469G>A, NM_001365809.1:c.469G>T, NM_001365809.1:c.469G>A, NM_001252065.2:c.337G>T, NM_001252065.2:c.337G>A, NM_001252065.1:c.337G>T, NM_001252065.1:c.337G>A, XM_047427855.1:c.469G>T, XM_047427855.1:c.469G>A, NM_001411007.1:c.469G>T, NM_001411007.1:c.469G>A, XP_005274441.1:p.Gly113Cys, XP_005274441.1:p.Gly113Ser, XP_011543637.1:p.Gly163Cys, XP_011543637.1:p.Gly163Ser, XP_011543638.1:p.Gly163Cys, XP_011543638.1:p.Gly163Ser, XP_011543639.1:p.Gly119Cys, XP_011543639.1:p.Gly119Ser, XP_011543641.1:p.Gly163Cys, XP_011543641.1:p.Gly163Ser, XP_011543642.1:p.Gly119Cys, XP_011543642.1:p.Gly119Ser, XP_011543644.1:p.Gly163Cys, XP_011543644.1:p.Gly163Ser, NP_001352738.1:p.Gly157Cys, NP_001352738.1:p.Gly157Ser, NP_001238994.1:p.Gly113Cys, NP_001238994.1:p.Gly113Ser, XP_047283811.1:p.Gly157Cys, XP_047283811.1:p.Gly157Ser

      3.

      rs1488266008 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,T [Show Flanks]
        Chromosome:
        11:61542396 (GRCh38)
        11:61309868 (GRCh37)
        Canonical SPDI:
        NC_000011.10:61542395:C:A,NC_000011.10:61542395:C:T
        Gene:
        SYT7 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        A=0.000008/1 (GnomAD_exomes)
        HGVS:
        NC_000011.10:g.61542396C>A, NC_000011.10:g.61542396C>T, NC_000011.9:g.61309868C>A, NC_000011.9:g.61309868C>T, XM_005274385.5:c.531G>T, XM_005274385.5:c.531G>A, XM_005274385.4:c.531G>T, XM_005274385.4:c.531G>A, XM_005274385.3:c.531G>T, XM_005274385.3:c.531G>A, XM_005274385.2:c.531G>T, XM_005274385.2:c.531G>A, XM_005274385.1:c.531G>T, XM_005274385.1:c.531G>A, XM_005274384.3:c.624G>T, XM_005274384.3:c.624G>A, XM_005274384.2:c.624G>T, XM_005274384.2:c.624G>A, XM_005274384.1:c.624G>T, XM_005274384.1:c.624G>A, XM_011545335.3:c.774G>T, XM_011545335.3:c.774G>A, XM_011545335.2:c.774G>T, XM_011545335.2:c.774G>A, XM_011545335.1:c.774G>T, XM_011545335.1:c.774G>A, XM_011545336.3:c.774G>T, XM_011545336.3:c.774G>A, XM_011545336.2:c.774G>T, XM_011545336.2:c.774G>A, XM_011545336.1:c.774G>T, XM_011545336.1:c.774G>A, XM_011545337.3:c.642G>T, XM_011545337.3:c.642G>A, XM_011545337.2:c.642G>T, XM_011545337.2:c.642G>A, XM_011545337.1:c.642G>T, XM_011545337.1:c.642G>A, XM_011545338.3:c.549G>T, XM_011545338.3:c.549G>A, XM_011545338.2:c.549G>T, XM_011545338.2:c.549G>A, XM_011545338.1:c.549G>T, XM_011545338.1:c.549G>A, XM_011545342.3:c.774G>T, XM_011545342.3:c.774G>A, XM_011545342.2:c.774G>T, XM_011545342.2:c.774G>A, XM_011545342.1:c.774G>T, XM_011545342.1:c.774G>A, NM_001365809.2:c.756G>T, NM_001365809.2:c.756G>A, NM_001365809.1:c.756G>T, NM_001365809.1:c.756G>A, NM_001370210.1:c.318G>T, NM_001370210.1:c.318G>A

        4.

        rs1487673483 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          11:61542321 (GRCh38)
          11:61309793 (GRCh37)
          Canonical SPDI:
          NC_000011.10:61542320:C:T
          Gene:
          SYT7 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000015/2 (GnomAD_exomes)
          T=0.000035/1 (TOMMO)
          HGVS:

          5.

          rs1486266631 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            11:61533043 (GRCh38)
            11:61300515 (GRCh37)
            Canonical SPDI:
            NC_000011.10:61533042:C:A
            Gene:
            SYT7 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000011.10:g.61533043C>A, NC_000011.9:g.61300515C>A, XM_005274387.5:c.435G>T, XM_005274387.4:c.435G>T, XM_005274387.3:c.435G>T, XM_005274387.2:c.435G>T, XM_005274387.1:c.435G>T, XM_005274385.5:c.921G>T, XM_005274385.4:c.921G>T, XM_005274385.3:c.921G>T, XM_005274385.2:c.921G>T, XM_005274385.1:c.921G>T, NM_004200.4:c.297G>T, NM_004200.3:c.297G>T, XM_005274384.3:c.1014G>T, XM_005274384.2:c.1014G>T, XM_005274384.1:c.1014G>T, XM_011545335.3:c.1164G>T, XM_011545335.2:c.1164G>T, XM_011545335.1:c.1164G>T, XM_011545336.3:c.1041G>T, XM_011545336.2:c.1041G>T, XM_011545336.1:c.1041G>T, XM_011545337.3:c.1032G>T, XM_011545337.2:c.1032G>T, XM_011545337.1:c.1032G>T, XM_011545338.3:c.939G>T, XM_011545338.2:c.939G>T, XM_011545338.1:c.939G>T, XM_011545339.3:c.672G>T, XM_011545339.2:c.672G>T, XM_011545339.1:c.672G>T, XM_011545340.3:c.540G>T, XM_011545340.2:c.540G>T, XM_011545340.1:c.540G>T, XM_011545341.3:c.447G>T, XM_011545341.2:c.447G>T, XM_011545341.1:c.447G>T, XM_011545343.3:c.315G>T, XM_011545343.2:c.315G>T, XM_011545343.1:c.315G>T, NM_001365809.2:c.1146G>T, NM_001365809.1:c.1146G>T, NM_001252065.2:c.522G>T, NM_001252065.1:c.522G>T, NM_001300773.2:c.429G>T, NM_001300773.1:c.429G>T, XM_047427855.1:c.654G>T, NM_001411007.1:c.654G>T, NM_001370210.1:c.585G>T, NM_001370211.1:c.297G>T, XP_005274444.1:p.Glu145Asp, XP_005274442.1:p.Glu307Asp, NP_004191.2:p.Glu99Asp, XP_005274441.1:p.Glu338Asp, XP_011543637.1:p.Glu388Asp, XP_011543638.1:p.Glu347Asp, XP_011543639.1:p.Glu344Asp, XP_011543640.1:p.Glu313Asp, XP_011543641.1:p.Glu224Asp, XP_011543642.1:p.Glu180Asp, XP_011543643.1:p.Glu149Asp, XP_011543645.1:p.Glu105Asp, NP_001352738.1:p.Glu382Asp, NP_001238994.1:p.Glu174Asp, NP_001287702.1:p.Glu143Asp, XP_047283811.1:p.Glu218Asp, NP_001357139.1:p.Glu195Asp, NP_001357140.1:p.Glu99Asp

            6.

            rs1486196174 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              11:61588304 (GRCh38)
              11:61355776 (GRCh37)
              Canonical SPDI:
              NC_000011.10:61588303:C:T
              Gene:
              SYT7 (Varview), LOC101927495 (Varview), LOC105369331 (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000071/1 (ALFA)
              T=0.000038/10 (TOPMED)
              T=0.00005/7 (GnomAD)
              T=0.000156/1 (1000Genomes)
              HGVS:
              NC_000011.10:g.61588304C>T, NC_000011.9:g.61355776C>T, XM_011545335.3:c.25G>A, XM_011545335.2:c.25G>A, XM_011545335.1:c.25G>A, XM_011545336.3:c.25G>A, XM_011545336.2:c.25G>A, XM_011545336.1:c.25G>A, XM_011545337.3:c.25G>A, XM_011545337.2:c.25G>A, XM_011545337.1:c.25G>A, XM_011545338.3:c.25G>A, XM_011545338.2:c.25G>A, XM_011545338.1:c.25G>A, XM_011545339.3:c.25G>A, XM_011545339.2:c.25G>A, XM_011545339.1:c.25G>A, XM_011545340.3:c.25G>A, XM_011545340.2:c.25G>A, XM_011545340.1:c.25G>A, XM_011545341.3:c.25G>A, XM_011545341.2:c.25G>A, XM_011545341.1:c.25G>A, XM_011545343.3:c.25G>A, XM_011545343.2:c.25G>A, XM_011545343.1:c.25G>A, XM_011545342.3:c.25G>A, XM_011545342.2:c.25G>A, XM_011545342.1:c.25G>A, XP_011543637.1:p.Gly9Arg, XP_011543638.1:p.Gly9Arg, XP_011543639.1:p.Gly9Arg, XP_011543640.1:p.Gly9Arg, XP_011543641.1:p.Gly9Arg, XP_011543642.1:p.Gly9Arg, XP_011543643.1:p.Gly9Arg, XP_011543645.1:p.Gly9Arg, XP_011543644.1:p.Gly9Arg

              7.

              rs1486071718 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                11:61542485 (GRCh38)
                11:61309957 (GRCh37)
                Canonical SPDI:
                NC_000011.10:61542484:G:A
                Gene:
                SYT7 (Varview)
                Functional Consequence:
                missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000043/1 (ALFA)
                A=0.000015/2 (GnomAD_exomes)
                A=0.000019/5 (TOPMED)
                A=0.000343/1 (KOREAN)
                HGVS:
                NC_000011.10:g.61542485G>A, NC_000011.9:g.61309957G>A, XM_005274385.5:c.442C>T, XM_005274385.4:c.442C>T, XM_005274385.3:c.442C>T, XM_005274385.2:c.442C>T, XM_005274385.1:c.442C>T, XM_005274384.3:c.535C>T, XM_005274384.2:c.535C>T, XM_005274384.1:c.535C>T, XM_011545335.3:c.685C>T, XM_011545335.2:c.685C>T, XM_011545335.1:c.685C>T, XM_011545336.3:c.685C>T, XM_011545336.2:c.685C>T, XM_011545336.1:c.685C>T, XM_011545337.3:c.553C>T, XM_011545337.2:c.553C>T, XM_011545337.1:c.553C>T, XM_011545338.3:c.460C>T, XM_011545338.2:c.460C>T, XM_011545338.1:c.460C>T, XM_011545342.3:c.685C>T, XM_011545342.2:c.685C>T, XM_011545342.1:c.685C>T, NM_001365809.2:c.667C>T, NM_001365809.1:c.667C>T, NM_001370210.1:c.229C>T, XP_005274442.1:p.Arg148Trp, XP_005274441.1:p.Arg179Trp, XP_011543637.1:p.Arg229Trp, XP_011543638.1:p.Arg229Trp, XP_011543639.1:p.Arg185Trp, XP_011543640.1:p.Arg154Trp, XP_011543644.1:p.Arg229Trp, NP_001352738.1:p.Arg223Trp, NP_001357139.1:p.Arg77Trp

                8.

                rs1484633393 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  11:61528068 (GRCh38)
                  11:61295540 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:61528067:T:C
                  Gene:
                  SYT7 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  C=0.000007/1 (GnomAD)
                  C=0.000035/1 (TOMMO)
                  HGVS:
                  NC_000011.10:g.61528068T>C, NC_000011.9:g.61295540T>C, XM_005274387.5:c.607A>G, XM_005274387.4:c.607A>G, XM_005274387.3:c.607A>G, XM_005274387.2:c.607A>G, XM_005274387.1:c.607A>G, XM_005274385.5:c.1093A>G, XM_005274385.4:c.1093A>G, XM_005274385.3:c.1093A>G, XM_005274385.2:c.1093A>G, XM_005274385.1:c.1093A>G, NM_004200.4:c.469A>G, NM_004200.3:c.469A>G, XM_005274384.3:c.1186A>G, XM_005274384.2:c.1186A>G, XM_005274384.1:c.1186A>G, XM_011545335.3:c.1336A>G, XM_011545335.2:c.1336A>G, XM_011545335.1:c.1336A>G, XM_011545336.3:c.1213A>G, XM_011545336.2:c.1213A>G, XM_011545336.1:c.1213A>G, XM_011545337.3:c.1204A>G, XM_011545337.2:c.1204A>G, XM_011545337.1:c.1204A>G, XM_011545338.3:c.1111A>G, XM_011545338.2:c.1111A>G, XM_011545338.1:c.1111A>G, XM_011545339.3:c.844A>G, XM_011545339.2:c.844A>G, XM_011545339.1:c.844A>G, XM_011545340.3:c.712A>G, XM_011545340.2:c.712A>G, XM_011545340.1:c.712A>G, XM_011545341.3:c.619A>G, XM_011545341.2:c.619A>G, XM_011545341.1:c.619A>G, XM_011545343.3:c.487A>G, XM_011545343.2:c.487A>G, XM_011545343.1:c.487A>G, NM_001365809.2:c.1318A>G, NM_001365809.1:c.1318A>G, NM_001252065.2:c.694A>G, NM_001252065.1:c.694A>G, NM_001300773.2:c.601A>G, NM_001300773.1:c.601A>G, XM_047427855.1:c.826A>G, NM_001411007.1:c.826A>G, NM_001370210.1:c.757A>G, NM_001370211.1:c.469A>G, XP_005274444.1:p.Met203Val, XP_005274442.1:p.Met365Val, NP_004191.2:p.Met157Val, XP_005274441.1:p.Met396Val, XP_011543637.1:p.Met446Val, XP_011543638.1:p.Met405Val, XP_011543639.1:p.Met402Val, XP_011543640.1:p.Met371Val, XP_011543641.1:p.Met282Val, XP_011543642.1:p.Met238Val, XP_011543643.1:p.Met207Val, XP_011543645.1:p.Met163Val, NP_001352738.1:p.Met440Val, NP_001238994.1:p.Met232Val, NP_001287702.1:p.Met201Val, XP_047283811.1:p.Met276Val, NP_001357139.1:p.Met253Val, NP_001357140.1:p.Met157Val

                  9.

                  rs1484572618 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    11:61542271 (GRCh38)
                    11:61309743 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:61542270:C:T
                    Gene:
                    SYT7 (Varview)
                    Functional Consequence:
                    missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    NC_000011.10:g.61542271C>T, NC_000011.9:g.61309743C>T, XM_005274385.5:c.656G>A, XM_005274385.4:c.656G>A, XM_005274385.3:c.656G>A, XM_005274385.2:c.656G>A, XM_005274385.1:c.656G>A, XM_005274384.3:c.749G>A, XM_005274384.2:c.749G>A, XM_005274384.1:c.749G>A, XM_011545335.3:c.899G>A, XM_011545335.2:c.899G>A, XM_011545335.1:c.899G>A, XM_011545336.3:c.899G>A, XM_011545336.2:c.899G>A, XM_011545336.1:c.899G>A, XM_011545337.3:c.767G>A, XM_011545337.2:c.767G>A, XM_011545337.1:c.767G>A, XM_011545338.3:c.674G>A, XM_011545338.2:c.674G>A, XM_011545338.1:c.674G>A, XM_011545342.3:c.899G>A, XM_011545342.2:c.899G>A, XM_011545342.1:c.899G>A, NM_001365809.2:c.881G>A, NM_001365809.1:c.881G>A, NM_001370210.1:c.443G>A, XP_005274442.1:p.Gly219Asp, XP_005274441.1:p.Gly250Asp, XP_011543637.1:p.Gly300Asp, XP_011543638.1:p.Gly300Asp, XP_011543639.1:p.Gly256Asp, XP_011543640.1:p.Gly225Asp, XP_011543644.1:p.Gly300Asp, NP_001352738.1:p.Gly294Asp, NP_001357139.1:p.Gly148Asp

                    10.

                    rs1484348018 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      11:61523202 (GRCh38)
                      11:61290674 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:61523201:C:T
                      Gene:
                      SYT7 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000011.10:g.61523202C>T, NC_000011.9:g.61290674C>T, XM_005274387.5:c.1118G>A, XM_005274387.4:c.1118G>A, XM_005274387.3:c.1118G>A, XM_005274387.2:c.1118G>A, XM_005274387.1:c.1118G>A, XM_005274385.5:c.1604G>A, XM_005274385.4:c.1604G>A, XM_005274385.3:c.1604G>A, XM_005274385.2:c.1604G>A, XM_005274385.1:c.1604G>A, NM_004200.4:c.980G>A, NM_004200.3:c.980G>A, XM_005274384.3:c.1697G>A, XM_005274384.2:c.1697G>A, XM_005274384.1:c.1697G>A, XM_011545335.3:c.1847G>A, XM_011545335.2:c.1847G>A, XM_011545335.1:c.1847G>A, XM_011545336.3:c.1724G>A, XM_011545336.2:c.1724G>A, XM_011545336.1:c.1724G>A, XM_011545337.3:c.1715G>A, XM_011545337.2:c.1715G>A, XM_011545337.1:c.1715G>A, XM_011545338.3:c.1622G>A, XM_011545338.2:c.1622G>A, XM_011545338.1:c.1622G>A, XM_011545339.3:c.1355G>A, XM_011545339.2:c.1355G>A, XM_011545339.1:c.1355G>A, XM_011545340.3:c.1223G>A, XM_011545340.2:c.1223G>A, XM_011545340.1:c.1223G>A, XM_011545341.3:c.1130G>A, XM_011545341.2:c.1130G>A, XM_011545341.1:c.1130G>A, XM_011545343.3:c.998G>A, XM_011545343.2:c.998G>A, XM_011545343.1:c.998G>A, NM_001365809.2:c.1829G>A, NM_001365809.1:c.1829G>A, NM_001252065.2:c.1205G>A, NM_001252065.1:c.1205G>A, NM_001300773.2:c.1112G>A, NM_001300773.1:c.1112G>A, XM_047427855.1:c.1337G>A, NM_001411007.1:c.1337G>A, NM_001370210.1:c.1268G>A, NM_001370211.1:c.980G>A, XP_005274444.1:p.Arg373Lys, XP_005274442.1:p.Arg535Lys, NP_004191.2:p.Arg327Lys, XP_005274441.1:p.Arg566Lys, XP_011543637.1:p.Arg616Lys, XP_011543638.1:p.Arg575Lys, XP_011543639.1:p.Arg572Lys, XP_011543640.1:p.Arg541Lys, XP_011543641.1:p.Arg452Lys, XP_011543642.1:p.Arg408Lys, XP_011543643.1:p.Arg377Lys, XP_011543645.1:p.Arg333Lys, NP_001352738.1:p.Arg610Lys, NP_001238994.1:p.Arg402Lys, NP_001287702.1:p.Arg371Lys, XP_047283811.1:p.Arg446Lys, NP_001357139.1:p.Arg423Lys, NP_001357140.1:p.Arg327Lys

                      11.

                      rs1484306926 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        11:61524384 (GRCh38)
                        11:61291856 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:61524383:C:T
                        Gene:
                        SYT7 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000011.10:g.61524384C>T, NC_000011.9:g.61291856C>T, XM_005274387.5:c.909G>A, XM_005274387.4:c.909G>A, XM_005274387.3:c.909G>A, XM_005274387.2:c.909G>A, XM_005274387.1:c.909G>A, XM_005274385.5:c.1395G>A, XM_005274385.4:c.1395G>A, XM_005274385.3:c.1395G>A, XM_005274385.2:c.1395G>A, XM_005274385.1:c.1395G>A, NM_004200.4:c.771G>A, NM_004200.3:c.771G>A, XM_005274384.3:c.1488G>A, XM_005274384.2:c.1488G>A, XM_005274384.1:c.1488G>A, XM_011545335.3:c.1638G>A, XM_011545335.2:c.1638G>A, XM_011545335.1:c.1638G>A, XM_011545336.3:c.1515G>A, XM_011545336.2:c.1515G>A, XM_011545336.1:c.1515G>A, XM_011545337.3:c.1506G>A, XM_011545337.2:c.1506G>A, XM_011545337.1:c.1506G>A, XM_011545338.3:c.1413G>A, XM_011545338.2:c.1413G>A, XM_011545338.1:c.1413G>A, XM_011545339.3:c.1146G>A, XM_011545339.2:c.1146G>A, XM_011545339.1:c.1146G>A, XM_011545340.3:c.1014G>A, XM_011545340.2:c.1014G>A, XM_011545340.1:c.1014G>A, XM_011545341.3:c.921G>A, XM_011545341.2:c.921G>A, XM_011545341.1:c.921G>A, XM_011545343.3:c.789G>A, XM_011545343.2:c.789G>A, XM_011545343.1:c.789G>A, NM_001365809.2:c.1620G>A, NM_001365809.1:c.1620G>A, NM_001252065.2:c.996G>A, NM_001252065.1:c.996G>A, NM_001300773.2:c.903G>A, NM_001300773.1:c.903G>A, XM_047427855.1:c.1128G>A, NM_001411007.1:c.1128G>A, NM_001370210.1:c.1059G>A, NM_001370211.1:c.771G>A

                        12.

                        rs1483715537 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          11:61547270 (GRCh38)
                          11:61314742 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:61547269:G:A
                          Gene:
                          SYT7 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                          HGVS:
                          NC_000011.10:g.61547270G>A, NC_000011.9:g.61314742G>A, XM_005274385.5:c.254C>T, XM_005274385.4:c.254C>T, XM_005274385.3:c.254C>T, XM_005274385.2:c.254C>T, XM_005274385.1:c.254C>T, XM_011545335.3:c.272C>T, XM_011545335.2:c.272C>T, XM_011545335.1:c.272C>T, XM_011545336.3:c.272C>T, XM_011545336.2:c.272C>T, XM_011545336.1:c.272C>T, XM_011545338.3:c.272C>T, XM_011545338.2:c.272C>T, XM_011545338.1:c.272C>T, XM_011545339.3:c.272C>T, XM_011545339.2:c.272C>T, XM_011545339.1:c.272C>T, XM_011545341.3:c.272C>T, XM_011545341.2:c.272C>T, XM_011545341.1:c.272C>T, XM_011545342.3:c.272C>T, XM_011545342.2:c.272C>T, XM_011545342.1:c.272C>T, NM_001365809.2:c.254C>T, NM_001365809.1:c.254C>T, NM_001300773.2:c.254C>T, NM_001300773.1:c.254C>T, XM_047427855.1:c.254C>T, NM_001411007.1:c.254C>T, XP_005274442.1:p.Thr85Ile, XP_011543637.1:p.Thr91Ile, XP_011543638.1:p.Thr91Ile, XP_011543640.1:p.Thr91Ile, XP_011543641.1:p.Thr91Ile, XP_011543643.1:p.Thr91Ile, XP_011543644.1:p.Thr91Ile, NP_001352738.1:p.Thr85Ile, NP_001287702.1:p.Thr85Ile, XP_047283811.1:p.Thr85Ile

                          13.

                          rs1477953005 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            11:61551425 (GRCh38)
                            11:61318897 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:61551424:C:A,NC_000011.10:61551424:C:T
                            Gene:
                            SYT7 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000012/3 (GnomAD_exomes)
                            A=0.000035/1 (TOMMO)
                            HGVS:
                            NC_000011.10:g.61551425C>A, NC_000011.10:g.61551425C>T, NC_000011.9:g.61318897C>A, NC_000011.9:g.61318897C>T, XM_005274385.5:c.174G>T, XM_005274385.5:c.174G>A, XM_005274385.4:c.174G>T, XM_005274385.4:c.174G>A, XM_005274385.3:c.174G>T, XM_005274385.3:c.174G>A, XM_005274385.2:c.174G>T, XM_005274385.2:c.174G>A, XM_005274385.1:c.174G>T, XM_005274385.1:c.174G>A, NM_004200.4:c.174G>T, NM_004200.4:c.174G>A, NM_004200.3:c.174G>T, NM_004200.3:c.174G>A, XM_005274384.3:c.174G>T, XM_005274384.3:c.174G>A, XM_005274384.2:c.174G>T, XM_005274384.2:c.174G>A, XM_005274384.1:c.174G>T, XM_005274384.1:c.174G>A, XM_011545335.3:c.192G>T, XM_011545335.3:c.192G>A, XM_011545335.2:c.192G>T, XM_011545335.2:c.192G>A, XM_011545335.1:c.192G>T, XM_011545335.1:c.192G>A, XM_011545336.3:c.192G>T, XM_011545336.3:c.192G>A, XM_011545336.2:c.192G>T, XM_011545336.2:c.192G>A, XM_011545336.1:c.192G>T, XM_011545336.1:c.192G>A, XM_011545337.3:c.192G>T, XM_011545337.3:c.192G>A, XM_011545337.2:c.192G>T, XM_011545337.2:c.192G>A, XM_011545337.1:c.192G>T, XM_011545337.1:c.192G>A, XM_011545338.3:c.192G>T, XM_011545338.3:c.192G>A, XM_011545338.2:c.192G>T, XM_011545338.2:c.192G>A, XM_011545338.1:c.192G>T, XM_011545338.1:c.192G>A, XM_011545339.3:c.192G>T, XM_011545339.3:c.192G>A, XM_011545339.2:c.192G>T, XM_011545339.2:c.192G>A, XM_011545339.1:c.192G>T, XM_011545339.1:c.192G>A, XM_011545340.3:c.192G>T, XM_011545340.3:c.192G>A, XM_011545340.2:c.192G>T, XM_011545340.2:c.192G>A, XM_011545340.1:c.192G>T, XM_011545340.1:c.192G>A, XM_011545341.3:c.192G>T, XM_011545341.3:c.192G>A, XM_011545341.2:c.192G>T, XM_011545341.2:c.192G>A, XM_011545341.1:c.192G>T, XM_011545341.1:c.192G>A, XM_011545343.3:c.192G>T, XM_011545343.3:c.192G>A, XM_011545343.2:c.192G>T, XM_011545343.2:c.192G>A, XM_011545343.1:c.192G>T, XM_011545343.1:c.192G>A, XM_011545342.3:c.192G>T, XM_011545342.3:c.192G>A, XM_011545342.2:c.192G>T, XM_011545342.2:c.192G>A, XM_011545342.1:c.192G>T, XM_011545342.1:c.192G>A, NM_001365809.2:c.174G>T, NM_001365809.2:c.174G>A, NM_001365809.1:c.174G>T, NM_001365809.1:c.174G>A, NM_001252065.2:c.174G>T, NM_001252065.2:c.174G>A, NM_001252065.1:c.174G>T, NM_001252065.1:c.174G>A, NM_001300773.2:c.174G>T, NM_001300773.2:c.174G>A, NM_001300773.1:c.174G>T, NM_001300773.1:c.174G>A, XM_047427855.1:c.174G>T, XM_047427855.1:c.174G>A, NM_001411007.1:c.174G>T, NM_001411007.1:c.174G>A, NM_001370211.1:c.174G>T, NM_001370211.1:c.174G>A

                            14.

                            rs1475900572 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              11:61546145 (GRCh38)
                              11:61313617 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:61546144:G:A
                              Gene:
                              SYT7 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000071/1 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              A=0.000016/2 (GnomAD_exomes)
                              HGVS:
                              NC_000011.10:g.61546145G>A, NC_000011.9:g.61313617G>A, XM_005274384.3:c.326C>T, XM_005274384.2:c.326C>T, XM_005274384.1:c.326C>T, XM_011545335.3:c.476C>T, XM_011545335.2:c.476C>T, XM_011545335.1:c.476C>T, XM_011545336.3:c.476C>T, XM_011545336.2:c.476C>T, XM_011545336.1:c.476C>T, XM_011545337.3:c.344C>T, XM_011545337.2:c.344C>T, XM_011545337.1:c.344C>T, XM_011545339.3:c.476C>T, XM_011545339.2:c.476C>T, XM_011545339.1:c.476C>T, XM_011545340.3:c.344C>T, XM_011545340.2:c.344C>T, XM_011545340.1:c.344C>T, XM_011545342.3:c.476C>T, XM_011545342.2:c.476C>T, XM_011545342.1:c.476C>T, NM_001365809.2:c.458C>T, NM_001365809.1:c.458C>T, NM_001252065.2:c.326C>T, NM_001252065.1:c.326C>T, XM_047427855.1:c.458C>T, NM_001411007.1:c.458C>T, XP_005274441.1:p.Ala109Val, XP_011543637.1:p.Ala159Val, XP_011543638.1:p.Ala159Val, XP_011543639.1:p.Ala115Val, XP_011543641.1:p.Ala159Val, XP_011543642.1:p.Ala115Val, XP_011543644.1:p.Ala159Val, NP_001352738.1:p.Ala153Val, NP_001238994.1:p.Ala109Val, XP_047283811.1:p.Ala153Val

                              15.

                              rs1475536359 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                11:61542409 (GRCh38)
                                11:61309881 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:61542408:C:A
                                Gene:
                                SYT7 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                HGVS:
                                NC_000011.10:g.61542409C>A, NC_000011.9:g.61309881C>A, XM_005274385.5:c.518G>T, XM_005274385.4:c.518G>T, XM_005274385.3:c.518G>T, XM_005274385.2:c.518G>T, XM_005274385.1:c.518G>T, XM_005274384.3:c.611G>T, XM_005274384.2:c.611G>T, XM_005274384.1:c.611G>T, XM_011545335.3:c.761G>T, XM_011545335.2:c.761G>T, XM_011545335.1:c.761G>T, XM_011545336.3:c.761G>T, XM_011545336.2:c.761G>T, XM_011545336.1:c.761G>T, XM_011545337.3:c.629G>T, XM_011545337.2:c.629G>T, XM_011545337.1:c.629G>T, XM_011545338.3:c.536G>T, XM_011545338.2:c.536G>T, XM_011545338.1:c.536G>T, XM_011545342.3:c.761G>T, XM_011545342.2:c.761G>T, XM_011545342.1:c.761G>T, NM_001365809.2:c.743G>T, NM_001365809.1:c.743G>T, NM_001370210.1:c.305G>T, XP_005274442.1:p.Ser173Ile, XP_005274441.1:p.Ser204Ile, XP_011543637.1:p.Ser254Ile, XP_011543638.1:p.Ser254Ile, XP_011543639.1:p.Ser210Ile, XP_011543640.1:p.Ser179Ile, XP_011543644.1:p.Ser254Ile, NP_001352738.1:p.Ser248Ile, NP_001357139.1:p.Ser102Ile

                                16.

                                rs1473995132 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  11:61546034 (GRCh38)
                                  11:61313506 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:61546033:G:A
                                  Gene:
                                  SYT7 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000011.10:g.61546034G>A, NC_000011.9:g.61313506G>A, XM_005274384.3:c.437C>T, XM_005274384.2:c.437C>T, XM_005274384.1:c.437C>T, XM_011545335.3:c.587C>T, XM_011545335.2:c.587C>T, XM_011545335.1:c.587C>T, XM_011545336.3:c.587C>T, XM_011545336.2:c.587C>T, XM_011545336.1:c.587C>T, XM_011545337.3:c.455C>T, XM_011545337.2:c.455C>T, XM_011545337.1:c.455C>T, XM_011545339.3:c.587C>T, XM_011545339.2:c.587C>T, XM_011545339.1:c.587C>T, XM_011545340.3:c.455C>T, XM_011545340.2:c.455C>T, XM_011545340.1:c.455C>T, XM_011545342.3:c.587C>T, XM_011545342.2:c.587C>T, XM_011545342.1:c.587C>T, NM_001365809.2:c.569C>T, NM_001365809.1:c.569C>T, NM_001252065.2:c.437C>T, NM_001252065.1:c.437C>T, XM_047427855.1:c.569C>T, NM_001411007.1:c.569C>T, XP_005274441.1:p.Ser146Phe, XP_011543637.1:p.Ser196Phe, XP_011543638.1:p.Ser196Phe, XP_011543639.1:p.Ser152Phe, XP_011543641.1:p.Ser196Phe, XP_011543642.1:p.Ser152Phe, XP_011543644.1:p.Ser196Phe, NP_001352738.1:p.Ser190Phe, NP_001238994.1:p.Ser146Phe, XP_047283811.1:p.Ser190Phe

                                  17.

                                  rs1473973761 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    11:61527985 (GRCh38)
                                    11:61295457 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:61527984:C:T
                                    Gene:
                                    SYT7 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000011.10:g.61527985C>T, NC_000011.9:g.61295457C>T, XM_005274387.5:c.690G>A, XM_005274387.4:c.690G>A, XM_005274387.3:c.690G>A, XM_005274387.2:c.690G>A, XM_005274387.1:c.690G>A, XM_005274385.5:c.1176G>A, XM_005274385.4:c.1176G>A, XM_005274385.3:c.1176G>A, XM_005274385.2:c.1176G>A, XM_005274385.1:c.1176G>A, NM_004200.4:c.552G>A, NM_004200.3:c.552G>A, XM_005274384.3:c.1269G>A, XM_005274384.2:c.1269G>A, XM_005274384.1:c.1269G>A, XM_011545335.3:c.1419G>A, XM_011545335.2:c.1419G>A, XM_011545335.1:c.1419G>A, XM_011545336.3:c.1296G>A, XM_011545336.2:c.1296G>A, XM_011545336.1:c.1296G>A, XM_011545337.3:c.1287G>A, XM_011545337.2:c.1287G>A, XM_011545337.1:c.1287G>A, XM_011545338.3:c.1194G>A, XM_011545338.2:c.1194G>A, XM_011545338.1:c.1194G>A, XM_011545339.3:c.927G>A, XM_011545339.2:c.927G>A, XM_011545339.1:c.927G>A, XM_011545340.3:c.795G>A, XM_011545340.2:c.795G>A, XM_011545340.1:c.795G>A, XM_011545341.3:c.702G>A, XM_011545341.2:c.702G>A, XM_011545341.1:c.702G>A, XM_011545343.3:c.570G>A, XM_011545343.2:c.570G>A, XM_011545343.1:c.570G>A, NM_001365809.2:c.1401G>A, NM_001365809.1:c.1401G>A, NM_001252065.2:c.777G>A, NM_001252065.1:c.777G>A, NM_001300773.2:c.684G>A, NM_001300773.1:c.684G>A, XM_047427855.1:c.909G>A, NM_001411007.1:c.909G>A, NM_001370210.1:c.840G>A, NM_001370211.1:c.552G>A

                                    18.

                                    rs1473624129 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C,T [Show Flanks]
                                      Chromosome:
                                      11:61518668 (GRCh38)
                                      11:61286140 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:61518667:G:C,NC_000011.10:61518667:G:T
                                      Gene:
                                      SYT7 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0.00003/1 (ALFA)
                                      HGVS:
                                      NC_000011.10:g.61518668G>C, NC_000011.10:g.61518668G>T, NC_000011.9:g.61286140G>C, NC_000011.9:g.61286140G>T, XM_005274387.5:c.1309C>G, XM_005274387.5:c.1309C>A, XM_005274387.4:c.1309C>G, XM_005274387.4:c.1309C>A, XM_005274387.3:c.1309C>G, XM_005274387.3:c.1309C>A, XM_005274387.2:c.1309C>G, XM_005274387.2:c.1309C>A, XM_005274387.1:c.1309C>G, XM_005274387.1:c.1309C>A, XM_005274385.5:c.1795C>G, XM_005274385.5:c.1795C>A, XM_005274385.4:c.1795C>G, XM_005274385.4:c.1795C>A, XM_005274385.3:c.1795C>G, XM_005274385.3:c.1795C>A, XM_005274385.2:c.1795C>G, XM_005274385.2:c.1795C>A, XM_005274385.1:c.1795C>G, XM_005274385.1:c.1795C>A, NM_004200.4:c.1171C>G, NM_004200.4:c.1171C>A, NM_004200.3:c.1171C>G, NM_004200.3:c.1171C>A, XM_005274384.3:c.1888C>G, XM_005274384.3:c.1888C>A, XM_005274384.2:c.1888C>G, XM_005274384.2:c.1888C>A, XM_005274384.1:c.1888C>G, XM_005274384.1:c.1888C>A, XM_011545335.3:c.2038C>G, XM_011545335.3:c.2038C>A, XM_011545335.2:c.2038C>G, XM_011545335.2:c.2038C>A, XM_011545335.1:c.2038C>G, XM_011545335.1:c.2038C>A, XM_011545336.3:c.1915C>G, XM_011545336.3:c.1915C>A, XM_011545336.2:c.1915C>G, XM_011545336.2:c.1915C>A, XM_011545336.1:c.1915C>G, XM_011545336.1:c.1915C>A, XM_011545337.3:c.1906C>G, XM_011545337.3:c.1906C>A, XM_011545337.2:c.1906C>G, XM_011545337.2:c.1906C>A, XM_011545337.1:c.1906C>G, XM_011545337.1:c.1906C>A, XM_011545338.3:c.1813C>G, XM_011545338.3:c.1813C>A, XM_011545338.2:c.1813C>G, XM_011545338.2:c.1813C>A, XM_011545338.1:c.1813C>G, XM_011545338.1:c.1813C>A, XM_011545339.3:c.1546C>G, XM_011545339.3:c.1546C>A, XM_011545339.2:c.1546C>G, XM_011545339.2:c.1546C>A, XM_011545339.1:c.1546C>G, XM_011545339.1:c.1546C>A, XM_011545340.3:c.1414C>G, XM_011545340.3:c.1414C>A, XM_011545340.2:c.1414C>G, XM_011545340.2:c.1414C>A, XM_011545340.1:c.1414C>G, XM_011545340.1:c.1414C>A, XM_011545341.3:c.1321C>G, XM_011545341.3:c.1321C>A, XM_011545341.2:c.1321C>G, XM_011545341.2:c.1321C>A, XM_011545341.1:c.1321C>G, XM_011545341.1:c.1321C>A, XM_011545343.3:c.1189C>G, XM_011545343.3:c.1189C>A, XM_011545343.2:c.1189C>G, XM_011545343.2:c.1189C>A, XM_011545343.1:c.1189C>G, XM_011545343.1:c.1189C>A, NM_001365809.2:c.2020C>G, NM_001365809.2:c.2020C>A, NM_001365809.1:c.2020C>G, NM_001365809.1:c.2020C>A, NM_001252065.2:c.1396C>G, NM_001252065.2:c.1396C>A, NM_001252065.1:c.1396C>G, NM_001252065.1:c.1396C>A, NM_001300773.2:c.1303C>G, NM_001300773.2:c.1303C>A, NM_001300773.1:c.1303C>G, NM_001300773.1:c.1303C>A, XM_047427855.1:c.1528C>G, XM_047427855.1:c.1528C>A, NM_001411007.1:c.1528C>G, NM_001411007.1:c.1528C>A, XP_005274444.1:p.Pro437Ala, XP_005274444.1:p.Pro437Thr, XP_005274442.1:p.Pro599Ala, XP_005274442.1:p.Pro599Thr, NP_004191.2:p.Pro391Ala, NP_004191.2:p.Pro391Thr, XP_005274441.1:p.Pro630Ala, XP_005274441.1:p.Pro630Thr, XP_011543637.1:p.Pro680Ala, XP_011543637.1:p.Pro680Thr, XP_011543638.1:p.Pro639Ala, XP_011543638.1:p.Pro639Thr, XP_011543639.1:p.Pro636Ala, XP_011543639.1:p.Pro636Thr, XP_011543640.1:p.Pro605Ala, XP_011543640.1:p.Pro605Thr, XP_011543641.1:p.Pro516Ala, XP_011543641.1:p.Pro516Thr, XP_011543642.1:p.Pro472Ala, XP_011543642.1:p.Pro472Thr, XP_011543643.1:p.Pro441Ala, XP_011543643.1:p.Pro441Thr, XP_011543645.1:p.Pro397Ala, XP_011543645.1:p.Pro397Thr, NP_001352738.1:p.Pro674Ala, NP_001352738.1:p.Pro674Thr, NP_001238994.1:p.Pro466Ala, NP_001238994.1:p.Pro466Thr, NP_001287702.1:p.Pro435Ala, NP_001287702.1:p.Pro435Thr, XP_047283811.1:p.Pro510Ala, XP_047283811.1:p.Pro510Thr

                                      19.

                                      rs1472699480 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        11:61546148 (GRCh38)
                                        11:61313620 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:61546147:T:A
                                        Gene:
                                        SYT7 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000008/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000011.10:g.61546148T>A, NC_000011.9:g.61313620T>A, XM_005274384.3:c.323A>T, XM_005274384.2:c.323A>T, XM_005274384.1:c.323A>T, XM_011545335.3:c.473A>T, XM_011545335.2:c.473A>T, XM_011545335.1:c.473A>T, XM_011545336.3:c.473A>T, XM_011545336.2:c.473A>T, XM_011545336.1:c.473A>T, XM_011545337.3:c.341A>T, XM_011545337.2:c.341A>T, XM_011545337.1:c.341A>T, XM_011545339.3:c.473A>T, XM_011545339.2:c.473A>T, XM_011545339.1:c.473A>T, XM_011545340.3:c.341A>T, XM_011545340.2:c.341A>T, XM_011545340.1:c.341A>T, XM_011545342.3:c.473A>T, XM_011545342.2:c.473A>T, XM_011545342.1:c.473A>T, NM_001365809.2:c.455A>T, NM_001365809.1:c.455A>T, NM_001252065.2:c.323A>T, NM_001252065.1:c.323A>T, XM_047427855.1:c.455A>T, NM_001411007.1:c.455A>T, XP_005274441.1:p.Asp108Val, XP_011543637.1:p.Asp158Val, XP_011543638.1:p.Asp158Val, XP_011543639.1:p.Asp114Val, XP_011543641.1:p.Asp158Val, XP_011543642.1:p.Asp114Val, XP_011543644.1:p.Asp158Val, NP_001352738.1:p.Asp152Val, NP_001238994.1:p.Asp108Val, XP_047283811.1:p.Asp152Val

                                        20.

                                        rs1472016783 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TCT>- [Show Flanks]
                                          Chromosome:
                                          11:61523227 (GRCh38)
                                          11:61290699 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:61523217:TCTTCTTCTTCT:TCTTCTTCT
                                          Gene:
                                          SYT7 (Varview)
                                          Functional Consequence:
                                          inframe_deletion,coding_sequence_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          -=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000011.10:g.61523218TCT[3], NC_000011.9:g.61290690TCT[3], XM_005274387.5:c.1091AGA[3], XM_005274387.4:c.1091AGA[3], XM_005274387.3:c.1091AGA[3], XM_005274387.2:c.1091AGA[3], XM_005274387.1:c.1091AGA[3], XM_005274385.5:c.1577AGA[3], XM_005274385.4:c.1577AGA[3], XM_005274385.3:c.1577AGA[3], XM_005274385.2:c.1577AGA[3], XM_005274385.1:c.1577AGA[3], NM_004200.4:c.953AGA[3], NM_004200.3:c.953AGA[3], XM_005274384.3:c.1670AGA[3], XM_005274384.2:c.1670AGA[3], XM_005274384.1:c.1670AGA[3], XM_011545335.3:c.1820AGA[3], XM_011545335.2:c.1820AGA[3], XM_011545335.1:c.1820AGA[3], XM_011545336.3:c.1697AGA[3], XM_011545336.2:c.1697AGA[3], XM_011545336.1:c.1697AGA[3], XM_011545337.3:c.1688AGA[3], XM_011545337.2:c.1688AGA[3], XM_011545337.1:c.1688AGA[3], XM_011545338.3:c.1595AGA[3], XM_011545338.2:c.1595AGA[3], XM_011545338.1:c.1595AGA[3], XM_011545339.3:c.1328AGA[3], XM_011545339.2:c.1328AGA[3], XM_011545339.1:c.1328AGA[3], XM_011545340.3:c.1196AGA[3], XM_011545340.2:c.1196AGA[3], XM_011545340.1:c.1196AGA[3], XM_011545341.3:c.1103AGA[3], XM_011545341.2:c.1103AGA[3], XM_011545341.1:c.1103AGA[3], XM_011545343.3:c.971AGA[3], XM_011545343.2:c.971AGA[3], XM_011545343.1:c.971AGA[3], NM_001365809.2:c.1802AGA[3], NM_001365809.1:c.1802AGA[3], NM_001252065.2:c.1178AGA[3], NM_001252065.1:c.1178AGA[3], NM_001300773.2:c.1085AGA[3], NM_001300773.1:c.1085AGA[3], XM_047427855.1:c.1310AGA[3], NM_001411007.1:c.1310AGA[3], NM_001370210.1:c.1241AGA[3], NM_001370211.1:c.953AGA[3], XP_005274444.1:p.Lys367del, XP_005274442.1:p.Lys529del, NP_004191.2:p.Lys321del, XP_005274441.1:p.Lys560del, XP_011543637.1:p.Lys610del, XP_011543638.1:p.Lys569del, XP_011543639.1:p.Lys566del, XP_011543640.1:p.Lys535del, XP_011543641.1:p.Lys446del, XP_011543642.1:p.Lys402del, XP_011543643.1:p.Lys371del, XP_011543645.1:p.Lys327del, NP_001352738.1:p.Lys604del, NP_001238994.1:p.Lys396del, NP_001287702.1:p.Lys365del, XP_047283811.1:p.Lys440del, NP_001357139.1:p.Lys417del, NP_001357140.1:p.Lys321del

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