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Items: 1 to 20 of 382

1.

rs1489876314 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    11:61580807 (GRCh38)
    11:61348279 (GRCh37)
    Canonical SPDI:
    NC_000011.10:61580806:G:T
    Gene:
    SYT7 (Varview)
    Functional Consequence:
    missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
    Validated:
    by frequency
    MAF:
    T=0.00002/1 (GnomAD_exomes)
    HGVS:

    2.

    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

      3.

      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

        4.

        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

          5.

          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

            6.

            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

              7.

              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

                8.

                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

                  9.

                  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

                    10.

                    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

                      11.

                      rs1470069705 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        11:61551416 (GRCh38)
                        11:61318888 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:61551415:T:C
                        Gene:
                        SYT7 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,coding_sequence_variant,synonymous_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_000011.10:g.61551416T>C, NC_000011.9:g.61318888T>C, XM_005274385.5:c.183A>G, XM_005274385.4:c.183A>G, XM_005274385.3:c.183A>G, XM_005274385.2:c.183A>G, XM_005274385.1:c.183A>G, NM_004200.4:c.183A>G, NM_004200.3:c.183A>G, XM_005274384.3:c.183A>G, XM_005274384.2:c.183A>G, XM_005274384.1:c.183A>G, XM_011545335.3:c.201A>G, XM_011545335.2:c.201A>G, XM_011545335.1:c.201A>G, XM_011545336.3:c.201A>G, XM_011545336.2:c.201A>G, XM_011545336.1:c.201A>G, XM_011545337.3:c.201A>G, XM_011545337.2:c.201A>G, XM_011545337.1:c.201A>G, XM_011545338.3:c.201A>G, XM_011545338.2:c.201A>G, XM_011545338.1:c.201A>G, XM_011545339.3:c.201A>G, XM_011545339.2:c.201A>G, XM_011545339.1:c.201A>G, XM_011545340.3:c.201A>G, XM_011545340.2:c.201A>G, XM_011545340.1:c.201A>G, XM_011545341.3:c.201A>G, XM_011545341.2:c.201A>G, XM_011545341.1:c.201A>G, XM_011545343.3:c.201A>G, XM_011545343.2:c.201A>G, XM_011545343.1:c.201A>G, XM_011545342.3:c.201A>G, XM_011545342.2:c.201A>G, XM_011545342.1:c.201A>G, NM_001365809.2:c.183A>G, NM_001365809.1:c.183A>G, NM_001252065.2:c.183A>G, NM_001252065.1:c.183A>G, NM_001300773.2:c.183A>G, NM_001300773.1:c.183A>G, XM_047427855.1:c.183A>G, NM_001411007.1:c.183A>G, NM_001370211.1:c.183A>G

                        12.

                        rs1468615857 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          11:61524409 (GRCh38)
                          11:61291881 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:61524408:T:G
                          Gene:
                          SYT7 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000011.10:g.61524409T>G, NC_000011.9:g.61291881T>G, XM_005274387.5:c.884A>C, XM_005274387.4:c.884A>C, XM_005274387.3:c.884A>C, XM_005274387.2:c.884A>C, XM_005274387.1:c.884A>C, XM_005274385.5:c.1370A>C, XM_005274385.4:c.1370A>C, XM_005274385.3:c.1370A>C, XM_005274385.2:c.1370A>C, XM_005274385.1:c.1370A>C, NM_004200.4:c.746A>C, NM_004200.3:c.746A>C, XM_005274384.3:c.1463A>C, XM_005274384.2:c.1463A>C, XM_005274384.1:c.1463A>C, XM_011545335.3:c.1613A>C, XM_011545335.2:c.1613A>C, XM_011545335.1:c.1613A>C, XM_011545336.3:c.1490A>C, XM_011545336.2:c.1490A>C, XM_011545336.1:c.1490A>C, XM_011545337.3:c.1481A>C, XM_011545337.2:c.1481A>C, XM_011545337.1:c.1481A>C, XM_011545338.3:c.1388A>C, XM_011545338.2:c.1388A>C, XM_011545338.1:c.1388A>C, XM_011545339.3:c.1121A>C, XM_011545339.2:c.1121A>C, XM_011545339.1:c.1121A>C, XM_011545340.3:c.989A>C, XM_011545340.2:c.989A>C, XM_011545340.1:c.989A>C, XM_011545341.3:c.896A>C, XM_011545341.2:c.896A>C, XM_011545341.1:c.896A>C, XM_011545343.3:c.764A>C, XM_011545343.2:c.764A>C, XM_011545343.1:c.764A>C, NM_001365809.2:c.1595A>C, NM_001365809.1:c.1595A>C, NM_001252065.2:c.971A>C, NM_001252065.1:c.971A>C, NM_001300773.2:c.878A>C, NM_001300773.1:c.878A>C, XM_047427855.1:c.1103A>C, NM_001411007.1:c.1103A>C, NM_001370210.1:c.1034A>C, NM_001370211.1:c.746A>C, XP_005274444.1:p.Gln295Pro, XP_005274442.1:p.Gln457Pro, NP_004191.2:p.Gln249Pro, XP_005274441.1:p.Gln488Pro, XP_011543637.1:p.Gln538Pro, XP_011543638.1:p.Gln497Pro, XP_011543639.1:p.Gln494Pro, XP_011543640.1:p.Gln463Pro, XP_011543641.1:p.Gln374Pro, XP_011543642.1:p.Gln330Pro, XP_011543643.1:p.Gln299Pro, XP_011543645.1:p.Gln255Pro, NP_001352738.1:p.Gln532Pro, NP_001238994.1:p.Gln324Pro, NP_001287702.1:p.Gln293Pro, XP_047283811.1:p.Gln368Pro, NP_001357139.1:p.Gln345Pro, NP_001357140.1:p.Gln249Pro

                          13.

                          rs1454421826 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            11:61528157 (GRCh38)
                            11:61295629 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:61528156:G:A
                            Gene:
                            SYT7 (Varview)
                            Functional Consequence:
                            missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000011.10:g.61528157G>A, NC_000011.9:g.61295629G>A, XM_005274387.5:c.518C>T, XM_005274387.4:c.518C>T, XM_005274387.3:c.518C>T, XM_005274387.2:c.518C>T, XM_005274387.1:c.518C>T, XM_005274385.5:c.1004C>T, XM_005274385.4:c.1004C>T, XM_005274385.3:c.1004C>T, XM_005274385.2:c.1004C>T, XM_005274385.1:c.1004C>T, NM_004200.4:c.380C>T, NM_004200.3:c.380C>T, XM_005274384.3:c.1097C>T, XM_005274384.2:c.1097C>T, XM_005274384.1:c.1097C>T, XM_011545335.3:c.1247C>T, XM_011545335.2:c.1247C>T, XM_011545335.1:c.1247C>T, XM_011545336.3:c.1124C>T, XM_011545336.2:c.1124C>T, XM_011545336.1:c.1124C>T, XM_011545337.3:c.1115C>T, XM_011545337.2:c.1115C>T, XM_011545337.1:c.1115C>T, XM_011545338.3:c.1022C>T, XM_011545338.2:c.1022C>T, XM_011545338.1:c.1022C>T, XM_011545339.3:c.755C>T, XM_011545339.2:c.755C>T, XM_011545339.1:c.755C>T, XM_011545340.3:c.623C>T, XM_011545340.2:c.623C>T, XM_011545340.1:c.623C>T, XM_011545341.3:c.530C>T, XM_011545341.2:c.530C>T, XM_011545341.1:c.530C>T, XM_011545343.3:c.398C>T, XM_011545343.2:c.398C>T, XM_011545343.1:c.398C>T, NM_001365809.2:c.1229C>T, NM_001365809.1:c.1229C>T, NM_001252065.2:c.605C>T, NM_001252065.1:c.605C>T, NM_001300773.2:c.512C>T, NM_001300773.1:c.512C>T, XM_047427855.1:c.737C>T, NM_001411007.1:c.737C>T, NM_001370210.1:c.668C>T, NM_001370211.1:c.380C>T, XP_005274444.1:p.Ala173Val, XP_005274442.1:p.Ala335Val, NP_004191.2:p.Ala127Val, XP_005274441.1:p.Ala366Val, XP_011543637.1:p.Ala416Val, XP_011543638.1:p.Ala375Val, XP_011543639.1:p.Ala372Val, XP_011543640.1:p.Ala341Val, XP_011543641.1:p.Ala252Val, XP_011543642.1:p.Ala208Val, XP_011543643.1:p.Ala177Val, XP_011543645.1:p.Ala133Val, NP_001352738.1:p.Ala410Val, NP_001238994.1:p.Ala202Val, NP_001287702.1:p.Ala171Val, XP_047283811.1:p.Ala246Val, NP_001357139.1:p.Ala223Val, NP_001357140.1:p.Ala127Val

                            14.

                            rs1452891755 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              11:61528171 (GRCh38)
                              11:61295643 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:61528170:G:A
                              Gene:
                              SYT7 (Varview)
                              Functional Consequence:
                              synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000011.10:g.61528171G>A, NC_000011.9:g.61295643G>A, XM_005274387.5:c.504C>T, XM_005274387.4:c.504C>T, XM_005274387.3:c.504C>T, XM_005274387.2:c.504C>T, XM_005274387.1:c.504C>T, XM_005274385.5:c.990C>T, XM_005274385.4:c.990C>T, XM_005274385.3:c.990C>T, XM_005274385.2:c.990C>T, XM_005274385.1:c.990C>T, NM_004200.4:c.366C>T, NM_004200.3:c.366C>T, XM_005274384.3:c.1083C>T, XM_005274384.2:c.1083C>T, XM_005274384.1:c.1083C>T, XM_011545335.3:c.1233C>T, XM_011545335.2:c.1233C>T, XM_011545335.1:c.1233C>T, XM_011545336.3:c.1110C>T, XM_011545336.2:c.1110C>T, XM_011545336.1:c.1110C>T, XM_011545337.3:c.1101C>T, XM_011545337.2:c.1101C>T, XM_011545337.1:c.1101C>T, XM_011545338.3:c.1008C>T, XM_011545338.2:c.1008C>T, XM_011545338.1:c.1008C>T, XM_011545339.3:c.741C>T, XM_011545339.2:c.741C>T, XM_011545339.1:c.741C>T, XM_011545340.3:c.609C>T, XM_011545340.2:c.609C>T, XM_011545340.1:c.609C>T, XM_011545341.3:c.516C>T, XM_011545341.2:c.516C>T, XM_011545341.1:c.516C>T, XM_011545343.3:c.384C>T, XM_011545343.2:c.384C>T, XM_011545343.1:c.384C>T, NM_001365809.2:c.1215C>T, NM_001365809.1:c.1215C>T, NM_001252065.2:c.591C>T, NM_001252065.1:c.591C>T, NM_001300773.2:c.498C>T, NM_001300773.1:c.498C>T, XM_047427855.1:c.723C>T, NM_001411007.1:c.723C>T, NM_001370210.1:c.654C>T, NM_001370211.1:c.366C>T

                              15.

                              rs1450991591 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:61551463 (GRCh38)
                                11:61318935 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:61551462:C:T
                                Gene:
                                SYT7 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000011.10:g.61551463C>T, NC_000011.9:g.61318935C>T, XM_005274385.5:c.136G>A, XM_005274385.4:c.136G>A, XM_005274385.3:c.136G>A, XM_005274385.2:c.136G>A, XM_005274385.1:c.136G>A, NM_004200.4:c.136G>A, NM_004200.3:c.136G>A, XM_005274384.3:c.136G>A, XM_005274384.2:c.136G>A, XM_005274384.1:c.136G>A, XM_011545335.3:c.154G>A, XM_011545335.2:c.154G>A, XM_011545335.1:c.154G>A, XM_011545336.3:c.154G>A, XM_011545336.2:c.154G>A, XM_011545336.1:c.154G>A, XM_011545337.3:c.154G>A, XM_011545337.2:c.154G>A, XM_011545337.1:c.154G>A, XM_011545338.3:c.154G>A, XM_011545338.2:c.154G>A, XM_011545338.1:c.154G>A, XM_011545339.3:c.154G>A, XM_011545339.2:c.154G>A, XM_011545339.1:c.154G>A, XM_011545340.3:c.154G>A, XM_011545340.2:c.154G>A, XM_011545340.1:c.154G>A, XM_011545341.3:c.154G>A, XM_011545341.2:c.154G>A, XM_011545341.1:c.154G>A, XM_011545343.3:c.154G>A, XM_011545343.2:c.154G>A, XM_011545343.1:c.154G>A, XM_011545342.3:c.154G>A, XM_011545342.2:c.154G>A, XM_011545342.1:c.154G>A, NM_001365809.2:c.136G>A, NM_001365809.1:c.136G>A, NM_001252065.2:c.136G>A, NM_001252065.1:c.136G>A, NM_001300773.2:c.136G>A, NM_001300773.1:c.136G>A, XM_047427855.1:c.136G>A, NM_001411007.1:c.136G>A, NM_001370211.1:c.136G>A, XP_005274442.1:p.Gly46Ser, NP_004191.2:p.Gly46Ser, XP_005274441.1:p.Gly46Ser, XP_011543637.1:p.Gly52Ser, XP_011543638.1:p.Gly52Ser, XP_011543639.1:p.Gly52Ser, XP_011543640.1:p.Gly52Ser, XP_011543641.1:p.Gly52Ser, XP_011543642.1:p.Gly52Ser, XP_011543643.1:p.Gly52Ser, XP_011543645.1:p.Gly52Ser, XP_011543644.1:p.Gly52Ser, NP_001352738.1:p.Gly46Ser, NP_001238994.1:p.Gly46Ser, NP_001287702.1:p.Gly46Ser, XP_047283811.1:p.Gly46Ser, NP_001357140.1:p.Gly46Ser

                                16.

                                rs1449782828 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  11:61524526 (GRCh38)
                                  11:61291998 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:61524525:G:A
                                  Gene:
                                  SYT7 (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                  HGVS:
                                  NC_000011.10:g.61524526G>A, NC_000011.9:g.61291998G>A, XM_005274387.5:c.767C>T, XM_005274387.4:c.767C>T, XM_005274387.3:c.767C>T, XM_005274387.2:c.767C>T, XM_005274387.1:c.767C>T, XM_005274385.5:c.1253C>T, XM_005274385.4:c.1253C>T, XM_005274385.3:c.1253C>T, XM_005274385.2:c.1253C>T, XM_005274385.1:c.1253C>T, NM_004200.4:c.629C>T, NM_004200.3:c.629C>T, XM_005274384.3:c.1346C>T, XM_005274384.2:c.1346C>T, XM_005274384.1:c.1346C>T, XM_011545335.3:c.1496C>T, XM_011545335.2:c.1496C>T, XM_011545335.1:c.1496C>T, XM_011545336.3:c.1373C>T, XM_011545336.2:c.1373C>T, XM_011545336.1:c.1373C>T, XM_011545337.3:c.1364C>T, XM_011545337.2:c.1364C>T, XM_011545337.1:c.1364C>T, XM_011545338.3:c.1271C>T, XM_011545338.2:c.1271C>T, XM_011545338.1:c.1271C>T, XM_011545339.3:c.1004C>T, XM_011545339.2:c.1004C>T, XM_011545339.1:c.1004C>T, XM_011545340.3:c.872C>T, XM_011545340.2:c.872C>T, XM_011545340.1:c.872C>T, XM_011545341.3:c.779C>T, XM_011545341.2:c.779C>T, XM_011545341.1:c.779C>T, XM_011545343.3:c.647C>T, XM_011545343.2:c.647C>T, XM_011545343.1:c.647C>T, NM_001365809.2:c.1478C>T, NM_001365809.1:c.1478C>T, NM_001252065.2:c.854C>T, NM_001252065.1:c.854C>T, NM_001300773.2:c.761C>T, NM_001300773.1:c.761C>T, XM_047427855.1:c.986C>T, NM_001411007.1:c.986C>T, NM_001370210.1:c.917C>T, NM_001370211.1:c.629C>T, XP_005274444.1:p.Pro256Leu, XP_005274442.1:p.Pro418Leu, NP_004191.2:p.Pro210Leu, XP_005274441.1:p.Pro449Leu, XP_011543637.1:p.Pro499Leu, XP_011543638.1:p.Pro458Leu, XP_011543639.1:p.Pro455Leu, XP_011543640.1:p.Pro424Leu, XP_011543641.1:p.Pro335Leu, XP_011543642.1:p.Pro291Leu, XP_011543643.1:p.Pro260Leu, XP_011543645.1:p.Pro216Leu, NP_001352738.1:p.Pro493Leu, NP_001238994.1:p.Pro285Leu, NP_001287702.1:p.Pro254Leu, XP_047283811.1:p.Pro329Leu, NP_001357139.1:p.Pro306Leu, NP_001357140.1:p.Pro210Leu

                                  17.

                                  rs1445666904 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    11:61523174 (GRCh38)
                                    11:61290646 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:61523173:G:C
                                    Gene:
                                    SYT7 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000021/3 (GnomAD)
                                    HGVS:
                                    NC_000011.10:g.61523174G>C, NC_000011.9:g.61290646G>C, XM_005274387.5:c.1146C>G, XM_005274387.4:c.1146C>G, XM_005274387.3:c.1146C>G, XM_005274387.2:c.1146C>G, XM_005274387.1:c.1146C>G, XM_005274385.5:c.1632C>G, XM_005274385.4:c.1632C>G, XM_005274385.3:c.1632C>G, XM_005274385.2:c.1632C>G, XM_005274385.1:c.1632C>G, NM_004200.4:c.1008C>G, NM_004200.3:c.1008C>G, XM_005274384.3:c.1725C>G, XM_005274384.2:c.1725C>G, XM_005274384.1:c.1725C>G, XM_011545335.3:c.1875C>G, XM_011545335.2:c.1875C>G, XM_011545335.1:c.1875C>G, XM_011545336.3:c.1752C>G, XM_011545336.2:c.1752C>G, XM_011545336.1:c.1752C>G, XM_011545337.3:c.1743C>G, XM_011545337.2:c.1743C>G, XM_011545337.1:c.1743C>G, XM_011545338.3:c.1650C>G, XM_011545338.2:c.1650C>G, XM_011545338.1:c.1650C>G, XM_011545339.3:c.1383C>G, XM_011545339.2:c.1383C>G, XM_011545339.1:c.1383C>G, XM_011545340.3:c.1251C>G, XM_011545340.2:c.1251C>G, XM_011545340.1:c.1251C>G, XM_011545341.3:c.1158C>G, XM_011545341.2:c.1158C>G, XM_011545341.1:c.1158C>G, XM_011545343.3:c.1026C>G, XM_011545343.2:c.1026C>G, XM_011545343.1:c.1026C>G, NM_001365809.2:c.1857C>G, NM_001365809.1:c.1857C>G, NM_001252065.2:c.1233C>G, NM_001252065.1:c.1233C>G, NM_001300773.2:c.1140C>G, NM_001300773.1:c.1140C>G, XM_047427855.1:c.1365C>G, NM_001411007.1:c.1365C>G, NM_001370210.1:c.1296C>G, NM_001370211.1:c.1008C>G

                                    18.

                                    rs1443851951 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ATC>- [Show Flanks]
                                      Chromosome:
                                      11:61523208 (GRCh38)
                                      11:61290680 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:61523205:TCATC:TC
                                      Gene:
                                      SYT7 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,coding_sequence_variant,inframe_deletion
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TC=0.000224/1 (ALFA)
                                      -=0.000007/1 (GnomAD)
                                      -=0.000223/1 (Estonian)
                                      HGVS:
                                      NC_000011.10:g.61523208_61523210del, NC_000011.9:g.61290680_61290682del, XM_005274387.5:c.1112_1114del, XM_005274387.4:c.1112_1114del, XM_005274387.3:c.1112_1114del, XM_005274387.2:c.1112_1114del, XM_005274387.1:c.1112_1114del, XM_005274385.5:c.1598_1600del, XM_005274385.4:c.1598_1600del, XM_005274385.3:c.1598_1600del, XM_005274385.2:c.1598_1600del, XM_005274385.1:c.1598_1600del, NM_004200.4:c.974_976del, NM_004200.3:c.974_976del, XM_005274384.3:c.1691_1693del, XM_005274384.2:c.1691_1693del, XM_005274384.1:c.1691_1693del, XM_011545335.3:c.1841_1843del, XM_011545335.2:c.1841_1843del, XM_011545335.1:c.1841_1843del, XM_011545336.3:c.1718_1720del, XM_011545336.2:c.1718_1720del, XM_011545336.1:c.1718_1720del, XM_011545337.3:c.1709_1711del, XM_011545337.2:c.1709_1711del, XM_011545337.1:c.1709_1711del, XM_011545338.3:c.1616_1618del, XM_011545338.2:c.1616_1618del, XM_011545338.1:c.1616_1618del, XM_011545339.3:c.1349_1351del, XM_011545339.2:c.1349_1351del, XM_011545339.1:c.1349_1351del, XM_011545340.3:c.1217_1219del, XM_011545340.2:c.1217_1219del, XM_011545340.1:c.1217_1219del, XM_011545341.3:c.1124_1126del, XM_011545341.2:c.1124_1126del, XM_011545341.1:c.1124_1126del, XM_011545343.3:c.992_994del, XM_011545343.2:c.992_994del, XM_011545343.1:c.992_994del, NM_001365809.2:c.1823_1825del, NM_001365809.1:c.1823_1825del, NM_001252065.2:c.1199_1201del, NM_001252065.1:c.1199_1201del, NM_001300773.2:c.1106_1108del, NM_001300773.1:c.1106_1108del, XM_047427855.1:c.1331_1333del, NM_001411007.1:c.1331_1333del, NM_001370210.1:c.1262_1264del, NM_001370211.1:c.974_976del, XP_005274444.1:p.Met371del, XP_005274442.1:p.Met533del, NP_004191.2:p.Met325del, XP_005274441.1:p.Met564del, XP_011543637.1:p.Met614del, XP_011543638.1:p.Met573del, XP_011543639.1:p.Met570del, XP_011543640.1:p.Met539del, XP_011543641.1:p.Met450del, XP_011543642.1:p.Met406del, XP_011543643.1:p.Met375del, XP_011543645.1:p.Met331del, NP_001352738.1:p.Met608del, NP_001238994.1:p.Met400del, NP_001287702.1:p.Met369del, XP_047283811.1:p.Met444del, NP_001357139.1:p.Met421del, NP_001357140.1:p.Met325del

                                      19.

                                      rs1441820938 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        11:61527993 (GRCh38)
                                        11:61295465 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:61527992:C:T
                                        Gene:
                                        SYT7 (Varview)
                                        Functional Consequence:
                                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000066/1 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000014/2 (GnomAD)
                                        T=0.000223/1 (Estonian)
                                        HGVS:
                                        NC_000011.10:g.61527993C>T, NC_000011.9:g.61295465C>T, XM_005274387.5:c.682G>A, XM_005274387.4:c.682G>A, XM_005274387.3:c.682G>A, XM_005274387.2:c.682G>A, XM_005274387.1:c.682G>A, XM_005274385.5:c.1168G>A, XM_005274385.4:c.1168G>A, XM_005274385.3:c.1168G>A, XM_005274385.2:c.1168G>A, XM_005274385.1:c.1168G>A, NM_004200.4:c.544G>A, NM_004200.3:c.544G>A, XM_005274384.3:c.1261G>A, XM_005274384.2:c.1261G>A, XM_005274384.1:c.1261G>A, XM_011545335.3:c.1411G>A, XM_011545335.2:c.1411G>A, XM_011545335.1:c.1411G>A, XM_011545336.3:c.1288G>A, XM_011545336.2:c.1288G>A, XM_011545336.1:c.1288G>A, XM_011545337.3:c.1279G>A, XM_011545337.2:c.1279G>A, XM_011545337.1:c.1279G>A, XM_011545338.3:c.1186G>A, XM_011545338.2:c.1186G>A, XM_011545338.1:c.1186G>A, XM_011545339.3:c.919G>A, XM_011545339.2:c.919G>A, XM_011545339.1:c.919G>A, XM_011545340.3:c.787G>A, XM_011545340.2:c.787G>A, XM_011545340.1:c.787G>A, XM_011545341.3:c.694G>A, XM_011545341.2:c.694G>A, XM_011545341.1:c.694G>A, XM_011545343.3:c.562G>A, XM_011545343.2:c.562G>A, XM_011545343.1:c.562G>A, NM_001365809.2:c.1393G>A, NM_001365809.1:c.1393G>A, NM_001252065.2:c.769G>A, NM_001252065.1:c.769G>A, NM_001300773.2:c.676G>A, NM_001300773.1:c.676G>A, XM_047427855.1:c.901G>A, NM_001411007.1:c.901G>A, NM_001370210.1:c.832G>A, NM_001370211.1:c.544G>A, XP_005274444.1:p.Asp228Asn, XP_005274442.1:p.Asp390Asn, NP_004191.2:p.Asp182Asn, XP_005274441.1:p.Asp421Asn, XP_011543637.1:p.Asp471Asn, XP_011543638.1:p.Asp430Asn, XP_011543639.1:p.Asp427Asn, XP_011543640.1:p.Asp396Asn, XP_011543641.1:p.Asp307Asn, XP_011543642.1:p.Asp263Asn, XP_011543643.1:p.Asp232Asn, XP_011543645.1:p.Asp188Asn, NP_001352738.1:p.Asp465Asn, NP_001238994.1:p.Asp257Asn, NP_001287702.1:p.Asp226Asn, XP_047283811.1:p.Asp301Asn, NP_001357139.1:p.Asp278Asn, NP_001357140.1:p.Asp182Asn

                                        20.

                                        rs1440865103 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          11:61556172 (GRCh38)
                                          11:61323644 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:61556171:T:C
                                          Gene:
                                          SYT7 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000011.10:g.61556172T>C, NC_000011.9:g.61323644T>C, XM_005274385.5:c.67A>G, XM_005274385.4:c.67A>G, XM_005274385.3:c.67A>G, XM_005274385.2:c.67A>G, XM_005274385.1:c.67A>G, NM_004200.4:c.67A>G, NM_004200.3:c.67A>G, XM_005274384.3:c.67A>G, XM_005274384.2:c.67A>G, XM_005274384.1:c.67A>G, XM_011545335.3:c.85A>G, XM_011545335.2:c.85A>G, XM_011545335.1:c.85A>G, XM_011545336.3:c.85A>G, XM_011545336.2:c.85A>G, XM_011545336.1:c.85A>G, XM_011545337.3:c.85A>G, XM_011545337.2:c.85A>G, XM_011545337.1:c.85A>G, XM_011545338.3:c.85A>G, XM_011545338.2:c.85A>G, XM_011545338.1:c.85A>G, XM_011545339.3:c.85A>G, XM_011545339.2:c.85A>G, XM_011545339.1:c.85A>G, XM_011545340.3:c.85A>G, XM_011545340.2:c.85A>G, XM_011545340.1:c.85A>G, XM_011545341.3:c.85A>G, XM_011545341.2:c.85A>G, XM_011545341.1:c.85A>G, XM_011545343.3:c.85A>G, XM_011545343.2:c.85A>G, XM_011545343.1:c.85A>G, XM_011545342.3:c.85A>G, XM_011545342.2:c.85A>G, XM_011545342.1:c.85A>G, NM_001365809.2:c.67A>G, NM_001365809.1:c.67A>G, NM_001252065.2:c.67A>G, NM_001252065.1:c.67A>G, NM_001300773.2:c.67A>G, NM_001300773.1:c.67A>G, XM_047427855.1:c.67A>G, NM_001411007.1:c.67A>G, NM_001370211.1:c.67A>G, XP_005274442.1:p.Ile23Val, NP_004191.2:p.Ile23Val, XP_005274441.1:p.Ile23Val, XP_011543637.1:p.Ile29Val, XP_011543638.1:p.Ile29Val, XP_011543639.1:p.Ile29Val, XP_011543640.1:p.Ile29Val, XP_011543641.1:p.Ile29Val, XP_011543642.1:p.Ile29Val, XP_011543643.1:p.Ile29Val, XP_011543645.1:p.Ile29Val, XP_011543644.1:p.Ile29Val, NP_001352738.1:p.Ile23Val, NP_001238994.1:p.Ile23Val, NP_001287702.1:p.Ile23Val, XP_047283811.1:p.Ile23Val, NP_001357140.1:p.Ile23Val

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