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Items: 1 to 20 of 120

1.

rs1489238722 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,C [Show Flanks]
    Chromosome:
    20:10293229 (GRCh38)
    20:10273877 (GRCh37)
    Canonical SPDI:
    NC_000020.11:10293228:T:A,NC_000020.11:10293228:T:C
    Gene:
    SNAP25 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant,missense_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000011/3 (TOPMED)
    C=0.000035/1 (TOMMO)
    HGVS:
    NC_000020.11:g.10293229T>A, NC_000020.11:g.10293229T>C, NC_000020.10:g.10273877T>A, NC_000020.10:g.10273877T>C, NG_029626.1:g.79401T>A, NG_029626.1:g.79401T>C, NM_130811.4:c.232T>A, NM_130811.4:c.232T>C, NM_130811.3:c.232T>A, NM_130811.3:c.232T>C, NM_130811.2:c.232T>A, NM_130811.2:c.232T>C, NM_001322907.2:c.232T>A, NM_001322907.2:c.232T>C, NM_001322907.1:c.232T>A, NM_001322907.1:c.232T>C, NM_001322908.2:c.232T>A, NM_001322908.2:c.232T>C, NM_001322908.1:c.232T>A, NM_001322908.1:c.232T>C, NM_001322910.2:c.232T>A, NM_001322910.2:c.232T>C, NM_001322910.1:c.232T>A, NM_001322910.1:c.232T>C, NM_001322903.2:c.232T>A, NM_001322903.2:c.232T>C, NM_001322903.1:c.232T>A, NM_001322903.1:c.232T>C, NM_001322904.2:c.232T>A, NM_001322904.2:c.232T>C, NM_001322904.1:c.232T>A, NM_001322904.1:c.232T>C, NM_001322905.2:c.232T>A, NM_001322905.2:c.232T>C, NM_001322905.1:c.232T>A, NM_001322905.1:c.232T>C, NM_001322906.2:c.232T>A, NM_001322906.2:c.232T>C, NM_001322906.1:c.232T>A, NM_001322906.1:c.232T>C, NM_001322909.2:c.232T>A, NM_001322909.2:c.232T>C, NM_001322909.1:c.232T>A, NM_001322909.1:c.232T>C, XM_005260808.6:c.232T>A, XM_005260808.6:c.232T>C, XM_005260808.5:c.232T>A, XM_005260808.5:c.232T>C, XM_005260808.4:c.232T>A, XM_005260808.4:c.232T>C, XM_005260808.3:c.232T>A, XM_005260808.3:c.232T>C, XM_005260808.2:c.232T>A, XM_005260808.2:c.232T>C, XM_005260808.1:c.232T>A, XM_005260808.1:c.232T>C, XM_047440391.1:c.232T>A, XM_047440391.1:c.232T>C, NP_570824.1:p.Leu78Met, NP_001309836.1:p.Leu78Met, NP_001309837.1:p.Leu78Met, NP_001309839.1:p.Leu78Met, NP_001309832.1:p.Leu78Met, NP_001309833.1:p.Leu78Met, NP_001309834.1:p.Leu78Met, NP_001309835.1:p.Leu78Met, NP_001309838.1:p.Leu78Met, XP_005260865.1:p.Leu78Met, XP_047296347.1:p.Leu78Met

    2.

    rs1488628548 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      20:10306163 (GRCh38)
      20:10286811 (GRCh37)
      Canonical SPDI:
      NC_000020.11:10306162:A:G
      Gene:
      SNAP25 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.000071/1 (ALFA)
      G=0.000007/1 (GnomAD)
      HGVS:
      NC_000020.11:g.10306163A>G, NC_000020.10:g.10286811A>G, NG_029626.1:g.92335A>G, NM_003081.5:c.587A>G, NM_003081.4:c.587A>G, NM_003081.3:c.587A>G, NM_130811.4:c.587A>G, NM_130811.3:c.587A>G, NM_130811.2:c.587A>G, NM_001322907.2:c.587A>G, NM_001322907.1:c.587A>G, NM_001322908.2:c.587A>G, NM_001322908.1:c.587A>G, NM_001322910.2:c.587A>G, NM_001322910.1:c.587A>G, NM_001322903.2:c.587A>G, NM_001322903.1:c.587A>G, NM_001322902.2:c.587A>G, NM_001322902.1:c.587A>G, NM_001322904.2:c.587A>G, NM_001322904.1:c.587A>G, NM_001322905.2:c.587A>G, NM_001322905.1:c.587A>G, NM_001322906.2:c.587A>G, NM_001322906.1:c.587A>G, NM_001322909.2:c.587A>G, NM_001322909.1:c.587A>G, XM_005260808.6:c.587A>G, XM_005260808.5:c.587A>G, XM_005260808.4:c.587A>G, XM_005260808.3:c.587A>G, XM_005260808.2:c.587A>G, XM_005260808.1:c.587A>G, XM_017028021.3:c.587A>G, XM_017028021.2:c.587A>G, XM_017028021.1:c.587A>G, XM_017028022.2:c.587A>G, XM_017028022.1:c.587A>G, NP_003072.2:p.Asn196Ser, NP_570824.1:p.Asn196Ser, NP_001309836.1:p.Asn196Ser, NP_001309837.1:p.Asn196Ser, NP_001309839.1:p.Asn196Ser, NP_001309832.1:p.Asn196Ser, NP_001309831.1:p.Asn196Ser, NP_001309833.1:p.Asn196Ser, NP_001309834.1:p.Asn196Ser, NP_001309835.1:p.Asn196Ser, NP_001309838.1:p.Asn196Ser, XP_005260865.1:p.Asn196Ser, XP_016883510.1:p.Asn196Ser, XP_016883511.1:p.Asn196Ser

      3.

      rs1481810638 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        20:10299386 (GRCh38)
        20:10280034 (GRCh37)
        Canonical SPDI:
        NC_000020.11:10299385:C:T
        Gene:
        SNAP25 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
        Clinical significance:
        uncertain-significance
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000071/1 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000035/1 (TOMMO)
        HGVS:
        NC_000020.11:g.10299386C>T, NC_000020.10:g.10280034C>T, NG_029626.1:g.85558C>T, NM_003081.5:c.526C>T, NM_003081.4:c.526C>T, NM_003081.3:c.526C>T, NM_130811.4:c.526C>T, NM_130811.3:c.526C>T, NM_130811.2:c.526C>T, NM_001322907.2:c.526C>T, NM_001322907.1:c.526C>T, NM_001322908.2:c.526C>T, NM_001322908.1:c.526C>T, NM_001322910.2:c.526C>T, NM_001322910.1:c.526C>T, NM_001322903.2:c.526C>T, NM_001322903.1:c.526C>T, NM_001322902.2:c.526C>T, NM_001322902.1:c.526C>T, NM_001322904.2:c.526C>T, NM_001322904.1:c.526C>T, NM_001322905.2:c.526C>T, NM_001322905.1:c.526C>T, NM_001322906.2:c.526C>T, NM_001322906.1:c.526C>T, NM_001322909.2:c.526C>T, NM_001322909.1:c.526C>T, XM_005260808.6:c.526C>T, XM_005260808.5:c.526C>T, XM_005260808.4:c.526C>T, XM_005260808.3:c.526C>T, XM_005260808.2:c.526C>T, XM_005260808.1:c.526C>T, XM_017028021.3:c.526C>T, XM_017028021.2:c.526C>T, XM_017028021.1:c.526C>T, XM_017028022.2:c.526C>T, XM_017028022.1:c.526C>T, NP_003072.2:p.Arg176Cys, NP_570824.1:p.Arg176Cys, NP_001309836.1:p.Arg176Cys, NP_001309837.1:p.Arg176Cys, NP_001309839.1:p.Arg176Cys, NP_001309832.1:p.Arg176Cys, NP_001309831.1:p.Arg176Cys, NP_001309833.1:p.Arg176Cys, NP_001309834.1:p.Arg176Cys, NP_001309835.1:p.Arg176Cys, NP_001309838.1:p.Arg176Cys, XP_005260865.1:p.Arg176Cys, XP_016883510.1:p.Arg176Cys, XP_016883511.1:p.Arg176Cys

        4.

        rs1476981842 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          20:10297030 (GRCh38)
          20:10277678 (GRCh37)
          Canonical SPDI:
          NC_000020.11:10297029:C:G
          Gene:
          SNAP25 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by cluster
          MAF:
          G=0.000007/1 (GnomAD)
          HGVS:
          NC_000020.11:g.10297030C>G, NC_000020.10:g.10277678C>G, NG_029626.1:g.83202C>G, NM_003081.5:c.387C>G, NM_003081.4:c.387C>G, NM_003081.3:c.387C>G, NM_130811.4:c.387C>G, NM_130811.3:c.387C>G, NM_130811.2:c.387C>G, NM_001322907.2:c.387C>G, NM_001322907.1:c.387C>G, NM_001322908.2:c.387C>G, NM_001322908.1:c.387C>G, NM_001322910.2:c.387C>G, NM_001322910.1:c.387C>G, NM_001322903.2:c.387C>G, NM_001322903.1:c.387C>G, NM_001322902.2:c.387C>G, NM_001322902.1:c.387C>G, NM_001322904.2:c.387C>G, NM_001322904.1:c.387C>G, NM_001322905.2:c.387C>G, NM_001322905.1:c.387C>G, NM_001322906.2:c.387C>G, NM_001322906.1:c.387C>G, NM_001322909.2:c.387C>G, NM_001322909.1:c.387C>G, XM_005260808.6:c.387C>G, XM_005260808.5:c.387C>G, XM_005260808.4:c.387C>G, XM_005260808.3:c.387C>G, XM_005260808.2:c.387C>G, XM_005260808.1:c.387C>G, XM_017028021.3:c.387C>G, XM_017028021.2:c.387C>G, XM_017028021.1:c.387C>G, XM_017028022.2:c.387C>G, XM_017028022.1:c.387C>G, XM_047440391.1:c.387C>G, NP_003072.2:p.Ile129Met, NP_570824.1:p.Ile129Met, NP_001309836.1:p.Ile129Met, NP_001309837.1:p.Ile129Met, NP_001309839.1:p.Ile129Met, NP_001309832.1:p.Ile129Met, NP_001309831.1:p.Ile129Met, NP_001309833.1:p.Ile129Met, NP_001309834.1:p.Ile129Met, NP_001309835.1:p.Ile129Met, NP_001309838.1:p.Ile129Met, XP_005260865.1:p.Ile129Met, XP_016883510.1:p.Ile129Met, XP_016883511.1:p.Ile129Met, XP_047296347.1:p.Ile129Met

          5.

          rs1455256643 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            20:10275518 (GRCh38)
            20:10256166 (GRCh37)
            Canonical SPDI:
            NC_000020.11:10275517:T:C
            Gene:
            SNAP25 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000020.11:g.10275518T>C, NC_000020.10:g.10256166T>C, NG_029626.1:g.61690T>C, NM_003081.5:c.27T>C, NM_003081.4:c.27T>C, NM_003081.3:c.27T>C, NM_130811.4:c.27T>C, NM_130811.3:c.27T>C, NM_130811.2:c.27T>C, NM_001322907.2:c.27T>C, NM_001322907.1:c.27T>C, NM_001322908.2:c.27T>C, NM_001322908.1:c.27T>C, NM_001322910.2:c.27T>C, NM_001322910.1:c.27T>C, NM_001322903.2:c.27T>C, NM_001322903.1:c.27T>C, NM_001322902.2:c.27T>C, NM_001322902.1:c.27T>C, NM_001322904.2:c.27T>C, NM_001322904.1:c.27T>C, NM_001322905.2:c.27T>C, NM_001322905.1:c.27T>C, NM_001322906.2:c.27T>C, NM_001322906.1:c.27T>C, NM_001322909.2:c.27T>C, NM_001322909.1:c.27T>C, XM_005260808.6:c.27T>C, XM_005260808.5:c.27T>C, XM_005260808.4:c.27T>C, XM_005260808.3:c.27T>C, XM_005260808.2:c.27T>C, XM_005260808.1:c.27T>C, XM_017028021.3:c.27T>C, XM_017028021.2:c.27T>C, XM_017028021.1:c.27T>C, XM_017028022.2:c.27T>C, XM_017028022.1:c.27T>C, XM_047440391.1:c.27T>C

            6.

            rs1448567280 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G,T [Show Flanks]
              Chromosome:
              20:10299296 (GRCh38)
              20:10279944 (GRCh37)
              Canonical SPDI:
              NC_000020.11:10299295:A:G,NC_000020.11:10299295:A:T
              Gene:
              SNAP25 (Varview)
              Functional Consequence:
              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:
              NC_000020.11:g.10299296A>G, NC_000020.11:g.10299296A>T, NC_000020.10:g.10279944A>G, NC_000020.10:g.10279944A>T, NG_029626.1:g.85468A>G, NG_029626.1:g.85468A>T, NM_003081.5:c.436A>G, NM_003081.5:c.436A>T, NM_003081.4:c.436A>G, NM_003081.4:c.436A>T, NM_003081.3:c.436A>G, NM_003081.3:c.436A>T, NM_130811.4:c.436A>G, NM_130811.4:c.436A>T, NM_130811.3:c.436A>G, NM_130811.3:c.436A>T, NM_130811.2:c.436A>G, NM_130811.2:c.436A>T, NM_001322907.2:c.436A>G, NM_001322907.2:c.436A>T, NM_001322907.1:c.436A>G, NM_001322907.1:c.436A>T, NM_001322908.2:c.436A>G, NM_001322908.2:c.436A>T, NM_001322908.1:c.436A>G, NM_001322908.1:c.436A>T, NM_001322910.2:c.436A>G, NM_001322910.2:c.436A>T, NM_001322910.1:c.436A>G, NM_001322910.1:c.436A>T, NM_001322903.2:c.436A>G, NM_001322903.2:c.436A>T, NM_001322903.1:c.436A>G, NM_001322903.1:c.436A>T, NM_001322902.2:c.436A>G, NM_001322902.2:c.436A>T, NM_001322902.1:c.436A>G, NM_001322902.1:c.436A>T, NM_001322904.2:c.436A>G, NM_001322904.2:c.436A>T, NM_001322904.1:c.436A>G, NM_001322904.1:c.436A>T, NM_001322905.2:c.436A>G, NM_001322905.2:c.436A>T, NM_001322905.1:c.436A>G, NM_001322905.1:c.436A>T, NM_001322906.2:c.436A>G, NM_001322906.2:c.436A>T, NM_001322906.1:c.436A>G, NM_001322906.1:c.436A>T, NM_001322909.2:c.436A>G, NM_001322909.2:c.436A>T, NM_001322909.1:c.436A>G, NM_001322909.1:c.436A>T, XM_005260808.6:c.436A>G, XM_005260808.6:c.436A>T, XM_005260808.5:c.436A>G, XM_005260808.5:c.436A>T, XM_005260808.4:c.436A>G, XM_005260808.4:c.436A>T, XM_005260808.3:c.436A>G, XM_005260808.3:c.436A>T, XM_005260808.2:c.436A>G, XM_005260808.2:c.436A>T, XM_005260808.1:c.436A>G, XM_005260808.1:c.436A>T, XM_017028021.3:c.436A>G, XM_017028021.3:c.436A>T, XM_017028021.2:c.436A>G, XM_017028021.2:c.436A>T, XM_017028021.1:c.436A>G, XM_017028021.1:c.436A>T, XM_017028022.2:c.436A>G, XM_017028022.2:c.436A>T, XM_017028022.1:c.436A>G, XM_017028022.1:c.436A>T, NP_003072.2:p.Met146Val, NP_003072.2:p.Met146Leu, NP_570824.1:p.Met146Val, NP_570824.1:p.Met146Leu, NP_001309836.1:p.Met146Val, NP_001309836.1:p.Met146Leu, NP_001309837.1:p.Met146Val, NP_001309837.1:p.Met146Leu, NP_001309839.1:p.Met146Val, NP_001309839.1:p.Met146Leu, NP_001309832.1:p.Met146Val, NP_001309832.1:p.Met146Leu, NP_001309831.1:p.Met146Val, NP_001309831.1:p.Met146Leu, NP_001309833.1:p.Met146Val, NP_001309833.1:p.Met146Leu, NP_001309834.1:p.Met146Val, NP_001309834.1:p.Met146Leu, NP_001309835.1:p.Met146Val, NP_001309835.1:p.Met146Leu, NP_001309838.1:p.Met146Val, NP_001309838.1:p.Met146Leu, XP_005260865.1:p.Met146Val, XP_005260865.1:p.Met146Leu, XP_016883510.1:p.Met146Val, XP_016883510.1:p.Met146Leu, XP_016883511.1:p.Met146Val, XP_016883511.1:p.Met146Leu

              7.

              rs1447601781 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                20:10296995 (GRCh38)
                20:10277643 (GRCh37)
                Canonical SPDI:
                NC_000020.11:10296994:G:A
                Gene:
                SNAP25 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000020.11:g.10296995G>A, NC_000020.10:g.10277643G>A, NG_029626.1:g.83167G>A, NM_003081.5:c.352G>A, NM_003081.4:c.352G>A, NM_003081.3:c.352G>A, NM_130811.4:c.352G>A, NM_130811.3:c.352G>A, NM_130811.2:c.352G>A, NM_001322907.2:c.352G>A, NM_001322907.1:c.352G>A, NM_001322908.2:c.352G>A, NM_001322908.1:c.352G>A, NM_001322910.2:c.352G>A, NM_001322910.1:c.352G>A, NM_001322903.2:c.352G>A, NM_001322903.1:c.352G>A, NM_001322902.2:c.352G>A, NM_001322902.1:c.352G>A, NM_001322904.2:c.352G>A, NM_001322904.1:c.352G>A, NM_001322905.2:c.352G>A, NM_001322905.1:c.352G>A, NM_001322906.2:c.352G>A, NM_001322906.1:c.352G>A, NM_001322909.2:c.352G>A, NM_001322909.1:c.352G>A, XM_005260808.6:c.352G>A, XM_005260808.5:c.352G>A, XM_005260808.4:c.352G>A, XM_005260808.3:c.352G>A, XM_005260808.2:c.352G>A, XM_005260808.1:c.352G>A, XM_017028021.3:c.352G>A, XM_017028021.2:c.352G>A, XM_017028021.1:c.352G>A, XM_017028022.2:c.352G>A, XM_017028022.1:c.352G>A, XM_047440391.1:c.352G>A, NP_003072.2:p.Ala118Thr, NP_570824.1:p.Ala118Thr, NP_001309836.1:p.Ala118Thr, NP_001309837.1:p.Ala118Thr, NP_001309839.1:p.Ala118Thr, NP_001309832.1:p.Ala118Thr, NP_001309831.1:p.Ala118Thr, NP_001309833.1:p.Ala118Thr, NP_001309834.1:p.Ala118Thr, NP_001309835.1:p.Ala118Thr, NP_001309838.1:p.Ala118Thr, XP_005260865.1:p.Ala118Thr, XP_016883510.1:p.Ala118Thr, XP_016883511.1:p.Ala118Thr, XP_047296347.1:p.Ala118Thr

                8.

                rs1439231615 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  20:10275542 (GRCh38)
                  20:10256190 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:10275541:G:A,NC_000020.11:10275541:G:T
                  Gene:
                  SNAP25 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000020.11:g.10275542G>A, NC_000020.11:g.10275542G>T, NC_000020.10:g.10256190G>A, NC_000020.10:g.10256190G>T, NG_029626.1:g.61714G>A, NG_029626.1:g.61714G>T, NM_003081.5:c.51G>A, NM_003081.5:c.51G>T, NM_003081.4:c.51G>A, NM_003081.4:c.51G>T, NM_003081.3:c.51G>A, NM_003081.3:c.51G>T, NM_130811.4:c.51G>A, NM_130811.4:c.51G>T, NM_130811.3:c.51G>A, NM_130811.3:c.51G>T, NM_130811.2:c.51G>A, NM_130811.2:c.51G>T, NM_001322907.2:c.51G>A, NM_001322907.2:c.51G>T, NM_001322907.1:c.51G>A, NM_001322907.1:c.51G>T, NM_001322908.2:c.51G>A, NM_001322908.2:c.51G>T, NM_001322908.1:c.51G>A, NM_001322908.1:c.51G>T, NM_001322910.2:c.51G>A, NM_001322910.2:c.51G>T, NM_001322910.1:c.51G>A, NM_001322910.1:c.51G>T, NM_001322903.2:c.51G>A, NM_001322903.2:c.51G>T, NM_001322903.1:c.51G>A, NM_001322903.1:c.51G>T, NM_001322902.2:c.51G>A, NM_001322902.2:c.51G>T, NM_001322902.1:c.51G>A, NM_001322902.1:c.51G>T, NM_001322904.2:c.51G>A, NM_001322904.2:c.51G>T, NM_001322904.1:c.51G>A, NM_001322904.1:c.51G>T, NM_001322905.2:c.51G>A, NM_001322905.2:c.51G>T, NM_001322905.1:c.51G>A, NM_001322905.1:c.51G>T, NM_001322906.2:c.51G>A, NM_001322906.2:c.51G>T, NM_001322906.1:c.51G>A, NM_001322906.1:c.51G>T, NM_001322909.2:c.51G>A, NM_001322909.2:c.51G>T, NM_001322909.1:c.51G>A, NM_001322909.1:c.51G>T, XM_005260808.6:c.51G>A, XM_005260808.6:c.51G>T, XM_005260808.5:c.51G>A, XM_005260808.5:c.51G>T, XM_005260808.4:c.51G>A, XM_005260808.4:c.51G>T, XM_005260808.3:c.51G>A, XM_005260808.3:c.51G>T, XM_005260808.2:c.51G>A, XM_005260808.2:c.51G>T, XM_005260808.1:c.51G>A, XM_005260808.1:c.51G>T, XM_017028021.3:c.51G>A, XM_017028021.3:c.51G>T, XM_017028021.2:c.51G>A, XM_017028021.2:c.51G>T, XM_017028021.1:c.51G>A, XM_017028021.1:c.51G>T, XM_017028022.2:c.51G>A, XM_017028022.2:c.51G>T, XM_017028022.1:c.51G>A, XM_017028022.1:c.51G>T, XM_047440391.1:c.51G>A, XM_047440391.1:c.51G>T, NP_003072.2:p.Arg17Ser, NP_570824.1:p.Arg17Ser, NP_001309836.1:p.Arg17Ser, NP_001309837.1:p.Arg17Ser, NP_001309839.1:p.Arg17Ser, NP_001309832.1:p.Arg17Ser, NP_001309831.1:p.Arg17Ser, NP_001309833.1:p.Arg17Ser, NP_001309834.1:p.Arg17Ser, NP_001309835.1:p.Arg17Ser, NP_001309838.1:p.Arg17Ser, XP_005260865.1:p.Arg17Ser, XP_016883510.1:p.Arg17Ser, XP_016883511.1:p.Arg17Ser, XP_047296347.1:p.Arg17Ser

                  9.

                  rs1415058260 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    20:10277715 (GRCh38)
                    20:10258363 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:10277714:C:A
                    Gene:
                    SNAP25 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000004/1 (TOPMED)
                    A=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000020.11:g.10277715C>A, NC_000020.10:g.10258363C>A, NG_029626.1:g.63887C>A, NM_003081.5:c.103C>A, NM_003081.4:c.103C>A, NM_003081.3:c.103C>A, NM_130811.4:c.103C>A, NM_130811.3:c.103C>A, NM_130811.2:c.103C>A, NM_001322907.2:c.103C>A, NM_001322907.1:c.103C>A, NM_001322908.2:c.103C>A, NM_001322908.1:c.103C>A, NM_001322910.2:c.103C>A, NM_001322910.1:c.103C>A, NM_001322903.2:c.103C>A, NM_001322903.1:c.103C>A, NM_001322902.2:c.103C>A, NM_001322902.1:c.103C>A, NM_001322904.2:c.103C>A, NM_001322904.1:c.103C>A, NM_001322905.2:c.103C>A, NM_001322905.1:c.103C>A, NM_001322906.2:c.103C>A, NM_001322906.1:c.103C>A, NM_001322909.2:c.103C>A, NM_001322909.1:c.103C>A, XM_005260808.6:c.103C>A, XM_005260808.5:c.103C>A, XM_005260808.4:c.103C>A, XM_005260808.3:c.103C>A, XM_005260808.2:c.103C>A, XM_005260808.1:c.103C>A, XM_017028021.3:c.103C>A, XM_017028021.2:c.103C>A, XM_017028021.1:c.103C>A, XM_017028022.2:c.103C>A, XM_017028022.1:c.103C>A, XM_047440391.1:c.103C>A, NP_003072.2:p.Leu35Met, NP_570824.1:p.Leu35Met, NP_001309836.1:p.Leu35Met, NP_001309837.1:p.Leu35Met, NP_001309839.1:p.Leu35Met, NP_001309832.1:p.Leu35Met, NP_001309831.1:p.Leu35Met, NP_001309833.1:p.Leu35Met, NP_001309834.1:p.Leu35Met, NP_001309835.1:p.Leu35Met, NP_001309838.1:p.Leu35Met, XP_005260865.1:p.Leu35Met, XP_016883510.1:p.Leu35Met, XP_016883511.1:p.Leu35Met, XP_047296347.1:p.Leu35Met

                    10.

                    rs1405385668 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      20:10275525 (GRCh38)
                      20:10256173 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:10275524:G:A
                      Gene:
                      SNAP25 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000020.11:g.10275525G>A, NC_000020.10:g.10256173G>A, NG_029626.1:g.61697G>A, NM_003081.5:c.34G>A, NM_003081.4:c.34G>A, NM_003081.3:c.34G>A, NM_130811.4:c.34G>A, NM_130811.3:c.34G>A, NM_130811.2:c.34G>A, NM_001322907.2:c.34G>A, NM_001322907.1:c.34G>A, NM_001322908.2:c.34G>A, NM_001322908.1:c.34G>A, NM_001322910.2:c.34G>A, NM_001322910.1:c.34G>A, NM_001322903.2:c.34G>A, NM_001322903.1:c.34G>A, NM_001322902.2:c.34G>A, NM_001322902.1:c.34G>A, NM_001322904.2:c.34G>A, NM_001322904.1:c.34G>A, NM_001322905.2:c.34G>A, NM_001322905.1:c.34G>A, NM_001322906.2:c.34G>A, NM_001322906.1:c.34G>A, NM_001322909.2:c.34G>A, NM_001322909.1:c.34G>A, XM_005260808.6:c.34G>A, XM_005260808.5:c.34G>A, XM_005260808.4:c.34G>A, XM_005260808.3:c.34G>A, XM_005260808.2:c.34G>A, XM_005260808.1:c.34G>A, XM_017028021.3:c.34G>A, XM_017028021.2:c.34G>A, XM_017028021.1:c.34G>A, XM_017028022.2:c.34G>A, XM_017028022.1:c.34G>A, XM_047440391.1:c.34G>A, NP_003072.2:p.Glu12Lys, NP_570824.1:p.Glu12Lys, NP_001309836.1:p.Glu12Lys, NP_001309837.1:p.Glu12Lys, NP_001309839.1:p.Glu12Lys, NP_001309832.1:p.Glu12Lys, NP_001309831.1:p.Glu12Lys, NP_001309833.1:p.Glu12Lys, NP_001309834.1:p.Glu12Lys, NP_001309835.1:p.Glu12Lys, NP_001309838.1:p.Glu12Lys, XP_005260865.1:p.Glu12Lys, XP_016883510.1:p.Glu12Lys, XP_016883511.1:p.Glu12Lys, XP_047296347.1:p.Glu12Lys

                      11.

                      rs1399426841 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        20:10277703 (GRCh38)
                        20:10258351 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:10277702:C:T
                        Gene:
                        SNAP25 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000020.11:g.10277703C>T, NC_000020.10:g.10258351C>T, NG_029626.1:g.63875C>T, NM_003081.5:c.91C>T, NM_003081.4:c.91C>T, NM_003081.3:c.91C>T, NM_130811.4:c.91C>T, NM_130811.3:c.91C>T, NM_130811.2:c.91C>T, NM_001322907.2:c.91C>T, NM_001322907.1:c.91C>T, NM_001322908.2:c.91C>T, NM_001322908.1:c.91C>T, NM_001322910.2:c.91C>T, NM_001322910.1:c.91C>T, NM_001322903.2:c.91C>T, NM_001322903.1:c.91C>T, NM_001322902.2:c.91C>T, NM_001322902.1:c.91C>T, NM_001322904.2:c.91C>T, NM_001322904.1:c.91C>T, NM_001322905.2:c.91C>T, NM_001322905.1:c.91C>T, NM_001322906.2:c.91C>T, NM_001322906.1:c.91C>T, NM_001322909.2:c.91C>T, NM_001322909.1:c.91C>T, XM_005260808.6:c.91C>T, XM_005260808.5:c.91C>T, XM_005260808.4:c.91C>T, XM_005260808.3:c.91C>T, XM_005260808.2:c.91C>T, XM_005260808.1:c.91C>T, XM_017028021.3:c.91C>T, XM_017028021.2:c.91C>T, XM_017028021.1:c.91C>T, XM_017028022.2:c.91C>T, XM_017028022.1:c.91C>T, XM_047440391.1:c.91C>T, NP_003072.2:p.Arg31Cys, NP_570824.1:p.Arg31Cys, NP_001309836.1:p.Arg31Cys, NP_001309837.1:p.Arg31Cys, NP_001309839.1:p.Arg31Cys, NP_001309832.1:p.Arg31Cys, NP_001309831.1:p.Arg31Cys, NP_001309833.1:p.Arg31Cys, NP_001309834.1:p.Arg31Cys, NP_001309835.1:p.Arg31Cys, NP_001309838.1:p.Arg31Cys, XP_005260865.1:p.Arg31Cys, XP_016883510.1:p.Arg31Cys, XP_016883511.1:p.Arg31Cys, XP_047296347.1:p.Arg31Cys

                        12.

                        rs1398448611 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C,T [Show Flanks]
                          Chromosome:
                          20:10296983 (GRCh38)
                          20:10277631 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:10296982:G:C,NC_000020.11:10296982:G:T
                          Gene:
                          SNAP25 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          T=0.000007/1 (GnomAD)
                          C=0.002729/5 (Korea1K)
                          HGVS:
                          NC_000020.11:g.10296983G>C, NC_000020.11:g.10296983G>T, NC_000020.10:g.10277631G>C, NC_000020.10:g.10277631G>T, NG_029626.1:g.83155G>C, NG_029626.1:g.83155G>T, NM_003081.5:c.340G>C, NM_003081.5:c.340G>T, NM_003081.4:c.340G>C, NM_003081.4:c.340G>T, NM_003081.3:c.340G>C, NM_003081.3:c.340G>T, NM_130811.4:c.340G>C, NM_130811.4:c.340G>T, NM_130811.3:c.340G>C, NM_130811.3:c.340G>T, NM_130811.2:c.340G>C, NM_130811.2:c.340G>T, NM_001322907.2:c.340G>C, NM_001322907.2:c.340G>T, NM_001322907.1:c.340G>C, NM_001322907.1:c.340G>T, NM_001322908.2:c.340G>C, NM_001322908.2:c.340G>T, NM_001322908.1:c.340G>C, NM_001322908.1:c.340G>T, NM_001322910.2:c.340G>C, NM_001322910.2:c.340G>T, NM_001322910.1:c.340G>C, NM_001322910.1:c.340G>T, NM_001322903.2:c.340G>C, NM_001322903.2:c.340G>T, NM_001322903.1:c.340G>C, NM_001322903.1:c.340G>T, NM_001322902.2:c.340G>C, NM_001322902.2:c.340G>T, NM_001322902.1:c.340G>C, NM_001322902.1:c.340G>T, NM_001322904.2:c.340G>C, NM_001322904.2:c.340G>T, NM_001322904.1:c.340G>C, NM_001322904.1:c.340G>T, NM_001322905.2:c.340G>C, NM_001322905.2:c.340G>T, NM_001322905.1:c.340G>C, NM_001322905.1:c.340G>T, NM_001322906.2:c.340G>C, NM_001322906.2:c.340G>T, NM_001322906.1:c.340G>C, NM_001322906.1:c.340G>T, NM_001322909.2:c.340G>C, NM_001322909.2:c.340G>T, NM_001322909.1:c.340G>C, NM_001322909.1:c.340G>T, XM_005260808.6:c.340G>C, XM_005260808.6:c.340G>T, XM_005260808.5:c.340G>C, XM_005260808.5:c.340G>T, XM_005260808.4:c.340G>C, XM_005260808.4:c.340G>T, XM_005260808.3:c.340G>C, XM_005260808.3:c.340G>T, XM_005260808.2:c.340G>C, XM_005260808.2:c.340G>T, XM_005260808.1:c.340G>C, XM_005260808.1:c.340G>T, XM_017028021.3:c.340G>C, XM_017028021.3:c.340G>T, XM_017028021.2:c.340G>C, XM_017028021.2:c.340G>T, XM_017028021.1:c.340G>C, XM_017028021.1:c.340G>T, XM_017028022.2:c.340G>C, XM_017028022.2:c.340G>T, XM_017028022.1:c.340G>C, XM_017028022.1:c.340G>T, XM_047440391.1:c.340G>C, XM_047440391.1:c.340G>T, NP_003072.2:p.Ala114Pro, NP_003072.2:p.Ala114Ser, NP_570824.1:p.Ala114Pro, NP_570824.1:p.Ala114Ser, NP_001309836.1:p.Ala114Pro, NP_001309836.1:p.Ala114Ser, NP_001309837.1:p.Ala114Pro, NP_001309837.1:p.Ala114Ser, NP_001309839.1:p.Ala114Pro, NP_001309839.1:p.Ala114Ser, NP_001309832.1:p.Ala114Pro, NP_001309832.1:p.Ala114Ser, NP_001309831.1:p.Ala114Pro, NP_001309831.1:p.Ala114Ser, NP_001309833.1:p.Ala114Pro, NP_001309833.1:p.Ala114Ser, NP_001309834.1:p.Ala114Pro, NP_001309834.1:p.Ala114Ser, NP_001309835.1:p.Ala114Pro, NP_001309835.1:p.Ala114Ser, NP_001309838.1:p.Ala114Pro, NP_001309838.1:p.Ala114Ser, XP_005260865.1:p.Ala114Pro, XP_005260865.1:p.Ala114Ser, XP_016883510.1:p.Ala114Pro, XP_016883510.1:p.Ala114Ser, XP_016883511.1:p.Ala114Pro, XP_016883511.1:p.Ala114Ser, XP_047296347.1:p.Ala114Pro, XP_047296347.1:p.Ala114Ser

                          13.

                          rs1395696987 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            20:10306142 (GRCh38)
                            20:10286790 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:10306141:A:C
                            Gene:
                            SNAP25 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000020.11:g.10306142A>C, NC_000020.10:g.10286790A>C, NG_029626.1:g.92314A>C, NM_003081.5:c.566A>C, NM_003081.4:c.566A>C, NM_003081.3:c.566A>C, NM_130811.4:c.566A>C, NM_130811.3:c.566A>C, NM_130811.2:c.566A>C, NM_001322907.2:c.566A>C, NM_001322907.1:c.566A>C, NM_001322908.2:c.566A>C, NM_001322908.1:c.566A>C, NM_001322910.2:c.566A>C, NM_001322910.1:c.566A>C, NM_001322903.2:c.566A>C, NM_001322903.1:c.566A>C, NM_001322902.2:c.566A>C, NM_001322902.1:c.566A>C, NM_001322904.2:c.566A>C, NM_001322904.1:c.566A>C, NM_001322905.2:c.566A>C, NM_001322905.1:c.566A>C, NM_001322906.2:c.566A>C, NM_001322906.1:c.566A>C, NM_001322909.2:c.566A>C, NM_001322909.1:c.566A>C, XM_005260808.6:c.566A>C, XM_005260808.5:c.566A>C, XM_005260808.4:c.566A>C, XM_005260808.3:c.566A>C, XM_005260808.2:c.566A>C, XM_005260808.1:c.566A>C, XM_017028021.3:c.566A>C, XM_017028021.2:c.566A>C, XM_017028021.1:c.566A>C, XM_017028022.2:c.566A>C, XM_017028022.1:c.566A>C, NP_003072.2:p.Lys189Thr, NP_570824.1:p.Lys189Thr, NP_001309836.1:p.Lys189Thr, NP_001309837.1:p.Lys189Thr, NP_001309839.1:p.Lys189Thr, NP_001309832.1:p.Lys189Thr, NP_001309831.1:p.Lys189Thr, NP_001309833.1:p.Lys189Thr, NP_001309834.1:p.Lys189Thr, NP_001309835.1:p.Lys189Thr, NP_001309838.1:p.Lys189Thr, XP_005260865.1:p.Lys189Thr, XP_016883510.1:p.Lys189Thr, XP_016883511.1:p.Lys189Thr

                            14.

                            rs1364361088 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              20:10275517 (GRCh38)
                              20:10256165 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:10275516:A:G
                              Gene:
                              SNAP25 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Clinical significance:
                              benign
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000020.11:g.10275517A>G, NC_000020.10:g.10256165A>G, NG_029626.1:g.61689A>G, NM_003081.5:c.26A>G, NM_003081.4:c.26A>G, NM_003081.3:c.26A>G, NM_130811.4:c.26A>G, NM_130811.3:c.26A>G, NM_130811.2:c.26A>G, NM_001322907.2:c.26A>G, NM_001322907.1:c.26A>G, NM_001322908.2:c.26A>G, NM_001322908.1:c.26A>G, NM_001322910.2:c.26A>G, NM_001322910.1:c.26A>G, NM_001322903.2:c.26A>G, NM_001322903.1:c.26A>G, NM_001322902.2:c.26A>G, NM_001322902.1:c.26A>G, NM_001322904.2:c.26A>G, NM_001322904.1:c.26A>G, NM_001322905.2:c.26A>G, NM_001322905.1:c.26A>G, NM_001322906.2:c.26A>G, NM_001322906.1:c.26A>G, NM_001322909.2:c.26A>G, NM_001322909.1:c.26A>G, XM_005260808.6:c.26A>G, XM_005260808.5:c.26A>G, XM_005260808.4:c.26A>G, XM_005260808.3:c.26A>G, XM_005260808.2:c.26A>G, XM_005260808.1:c.26A>G, XM_017028021.3:c.26A>G, XM_017028021.2:c.26A>G, XM_017028021.1:c.26A>G, XM_017028022.2:c.26A>G, XM_017028022.1:c.26A>G, XM_047440391.1:c.26A>G, NP_003072.2:p.Asn9Ser, NP_570824.1:p.Asn9Ser, NP_001309836.1:p.Asn9Ser, NP_001309837.1:p.Asn9Ser, NP_001309839.1:p.Asn9Ser, NP_001309832.1:p.Asn9Ser, NP_001309831.1:p.Asn9Ser, NP_001309833.1:p.Asn9Ser, NP_001309834.1:p.Asn9Ser, NP_001309835.1:p.Asn9Ser, NP_001309838.1:p.Asn9Ser, XP_005260865.1:p.Asn9Ser, XP_016883510.1:p.Asn9Ser, XP_016883511.1:p.Asn9Ser, XP_047296347.1:p.Asn9Ser

                              15.

                              rs1356129075 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                20:10306164 (GRCh38)
                                20:10286812 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:10306163:C:T
                                Gene:
                                SNAP25 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000020.11:g.10306164C>T, NC_000020.10:g.10286812C>T, NG_029626.1:g.92336C>T, NM_003081.5:c.588C>T, NM_003081.4:c.588C>T, NM_003081.3:c.588C>T, NM_130811.4:c.588C>T, NM_130811.3:c.588C>T, NM_130811.2:c.588C>T, NM_001322907.2:c.588C>T, NM_001322907.1:c.588C>T, NM_001322908.2:c.588C>T, NM_001322908.1:c.588C>T, NM_001322910.2:c.588C>T, NM_001322910.1:c.588C>T, NM_001322903.2:c.588C>T, NM_001322903.1:c.588C>T, NM_001322902.2:c.588C>T, NM_001322902.1:c.588C>T, NM_001322904.2:c.588C>T, NM_001322904.1:c.588C>T, NM_001322905.2:c.588C>T, NM_001322905.1:c.588C>T, NM_001322906.2:c.588C>T, NM_001322906.1:c.588C>T, NM_001322909.2:c.588C>T, NM_001322909.1:c.588C>T, XM_005260808.6:c.588C>T, XM_005260808.5:c.588C>T, XM_005260808.4:c.588C>T, XM_005260808.3:c.588C>T, XM_005260808.2:c.588C>T, XM_005260808.1:c.588C>T, XM_017028021.3:c.588C>T, XM_017028021.2:c.588C>T, XM_017028021.1:c.588C>T, XM_017028022.2:c.588C>T, XM_017028022.1:c.588C>T

                                16.

                                rs1354078628 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  20:10299341 (GRCh38)
                                  20:10279989 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:10299340:C:T
                                  Gene:
                                  SNAP25 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000020.11:g.10299341C>T, NC_000020.10:g.10279989C>T, NG_029626.1:g.85513C>T, NM_003081.5:c.481C>T, NM_003081.4:c.481C>T, NM_003081.3:c.481C>T, NM_130811.4:c.481C>T, NM_130811.3:c.481C>T, NM_130811.2:c.481C>T, NM_001322907.2:c.481C>T, NM_001322907.1:c.481C>T, NM_001322908.2:c.481C>T, NM_001322908.1:c.481C>T, NM_001322910.2:c.481C>T, NM_001322910.1:c.481C>T, NM_001322903.2:c.481C>T, NM_001322903.1:c.481C>T, NM_001322902.2:c.481C>T, NM_001322902.1:c.481C>T, NM_001322904.2:c.481C>T, NM_001322904.1:c.481C>T, NM_001322905.2:c.481C>T, NM_001322905.1:c.481C>T, NM_001322906.2:c.481C>T, NM_001322906.1:c.481C>T, NM_001322909.2:c.481C>T, NM_001322909.1:c.481C>T, XM_005260808.6:c.481C>T, XM_005260808.5:c.481C>T, XM_005260808.4:c.481C>T, XM_005260808.3:c.481C>T, XM_005260808.2:c.481C>T, XM_005260808.1:c.481C>T, XM_017028021.3:c.481C>T, XM_017028021.2:c.481C>T, XM_017028021.1:c.481C>T, XM_017028022.2:c.481C>T, XM_017028022.1:c.481C>T, NP_003072.2:p.Arg161Cys, NP_570824.1:p.Arg161Cys, NP_001309836.1:p.Arg161Cys, NP_001309837.1:p.Arg161Cys, NP_001309839.1:p.Arg161Cys, NP_001309832.1:p.Arg161Cys, NP_001309831.1:p.Arg161Cys, NP_001309833.1:p.Arg161Cys, NP_001309834.1:p.Arg161Cys, NP_001309835.1:p.Arg161Cys, NP_001309838.1:p.Arg161Cys, XP_005260865.1:p.Arg161Cys, XP_016883510.1:p.Arg161Cys, XP_016883511.1:p.Arg161Cys

                                  17.

                                  rs1350657965 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    20:10296974 (GRCh38)
                                    20:10277622 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:10296973:G:A
                                    Gene:
                                    SNAP25 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    HGVS:
                                    NC_000020.11:g.10296974G>A, NC_000020.10:g.10277622G>A, NG_029626.1:g.83146G>A, NM_003081.5:c.331G>A, NM_003081.4:c.331G>A, NM_003081.3:c.331G>A, NM_130811.4:c.331G>A, NM_130811.3:c.331G>A, NM_130811.2:c.331G>A, NM_001322907.2:c.331G>A, NM_001322907.1:c.331G>A, NM_001322908.2:c.331G>A, NM_001322908.1:c.331G>A, NM_001322910.2:c.331G>A, NM_001322910.1:c.331G>A, NM_001322903.2:c.331G>A, NM_001322903.1:c.331G>A, NM_001322902.2:c.331G>A, NM_001322902.1:c.331G>A, NM_001322904.2:c.331G>A, NM_001322904.1:c.331G>A, NM_001322905.2:c.331G>A, NM_001322905.1:c.331G>A, NM_001322906.2:c.331G>A, NM_001322906.1:c.331G>A, NM_001322909.2:c.331G>A, NM_001322909.1:c.331G>A, XM_005260808.6:c.331G>A, XM_005260808.5:c.331G>A, XM_005260808.4:c.331G>A, XM_005260808.3:c.331G>A, XM_005260808.2:c.331G>A, XM_005260808.1:c.331G>A, XM_017028021.3:c.331G>A, XM_017028021.2:c.331G>A, XM_017028021.1:c.331G>A, XM_017028022.2:c.331G>A, XM_017028022.1:c.331G>A, XM_047440391.1:c.331G>A, NP_003072.2:p.Gly111Arg, NP_570824.1:p.Gly111Arg, NP_001309836.1:p.Gly111Arg, NP_001309837.1:p.Gly111Arg, NP_001309839.1:p.Gly111Arg, NP_001309832.1:p.Gly111Arg, NP_001309831.1:p.Gly111Arg, NP_001309833.1:p.Gly111Arg, NP_001309834.1:p.Gly111Arg, NP_001309835.1:p.Gly111Arg, NP_001309838.1:p.Gly111Arg, XP_005260865.1:p.Gly111Arg, XP_016883510.1:p.Gly111Arg, XP_016883511.1:p.Gly111Arg, XP_047296347.1:p.Gly111Arg

                                    18.

                                    rs1341058084 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      20:10277704 (GRCh38)
                                      20:10258352 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:10277703:G:A
                                      Gene:
                                      SNAP25 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Clinical significance:
                                      uncertain-significance
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000008/2 (TOPMED)
                                      A=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000020.11:g.10277704G>A, NC_000020.10:g.10258352G>A, NG_029626.1:g.63876G>A, NM_003081.5:c.92G>A, NM_003081.4:c.92G>A, NM_003081.3:c.92G>A, NM_130811.4:c.92G>A, NM_130811.3:c.92G>A, NM_130811.2:c.92G>A, NM_001322907.2:c.92G>A, NM_001322907.1:c.92G>A, NM_001322908.2:c.92G>A, NM_001322908.1:c.92G>A, NM_001322910.2:c.92G>A, NM_001322910.1:c.92G>A, NM_001322903.2:c.92G>A, NM_001322903.1:c.92G>A, NM_001322902.2:c.92G>A, NM_001322902.1:c.92G>A, NM_001322904.2:c.92G>A, NM_001322904.1:c.92G>A, NM_001322905.2:c.92G>A, NM_001322905.1:c.92G>A, NM_001322906.2:c.92G>A, NM_001322906.1:c.92G>A, NM_001322909.2:c.92G>A, NM_001322909.1:c.92G>A, XM_005260808.6:c.92G>A, XM_005260808.5:c.92G>A, XM_005260808.4:c.92G>A, XM_005260808.3:c.92G>A, XM_005260808.2:c.92G>A, XM_005260808.1:c.92G>A, XM_017028021.3:c.92G>A, XM_017028021.2:c.92G>A, XM_017028021.1:c.92G>A, XM_017028022.2:c.92G>A, XM_017028022.1:c.92G>A, XM_047440391.1:c.92G>A, NP_003072.2:p.Arg31His, NP_570824.1:p.Arg31His, NP_001309836.1:p.Arg31His, NP_001309837.1:p.Arg31His, NP_001309839.1:p.Arg31His, NP_001309832.1:p.Arg31His, NP_001309831.1:p.Arg31His, NP_001309833.1:p.Arg31His, NP_001309834.1:p.Arg31His, NP_001309835.1:p.Arg31His, NP_001309838.1:p.Arg31His, XP_005260865.1:p.Arg31His, XP_016883510.1:p.Arg31His, XP_016883511.1:p.Arg31His, XP_047296347.1:p.Arg31His

                                      19.

                                      rs1336855090 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        20:10299295 (GRCh38)
                                        20:10279943 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:10299294:A:G
                                        Gene:
                                        SNAP25 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000020.11:g.10299295A>G, NC_000020.10:g.10279943A>G, NG_029626.1:g.85467A>G, NM_003081.5:c.435A>G, NM_003081.4:c.435A>G, NM_003081.3:c.435A>G, NM_130811.4:c.435A>G, NM_130811.3:c.435A>G, NM_130811.2:c.435A>G, NM_001322907.2:c.435A>G, NM_001322907.1:c.435A>G, NM_001322908.2:c.435A>G, NM_001322908.1:c.435A>G, NM_001322910.2:c.435A>G, NM_001322910.1:c.435A>G, NM_001322903.2:c.435A>G, NM_001322903.1:c.435A>G, NM_001322902.2:c.435A>G, NM_001322902.1:c.435A>G, NM_001322904.2:c.435A>G, NM_001322904.1:c.435A>G, NM_001322905.2:c.435A>G, NM_001322905.1:c.435A>G, NM_001322906.2:c.435A>G, NM_001322906.1:c.435A>G, NM_001322909.2:c.435A>G, NM_001322909.1:c.435A>G, XM_005260808.6:c.435A>G, XM_005260808.5:c.435A>G, XM_005260808.4:c.435A>G, XM_005260808.3:c.435A>G, XM_005260808.2:c.435A>G, XM_005260808.1:c.435A>G, XM_017028021.3:c.435A>G, XM_017028021.2:c.435A>G, XM_017028021.1:c.435A>G, XM_017028022.2:c.435A>G, XM_017028022.1:c.435A>G

                                        20.

                                        rs1329113870 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          20:10293260 (GRCh38)
                                          20:10273908 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:10293259:G:A,NC_000020.11:10293259:G:T
                                          Gene:
                                          SNAP25 (Varview)
                                          Functional Consequence:
                                          intron_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000020.11:g.10293260G>A, NC_000020.11:g.10293260G>T, NC_000020.10:g.10273908G>A, NC_000020.10:g.10273908G>T, NG_029626.1:g.79432G>A, NG_029626.1:g.79432G>T, NM_130811.4:c.263G>A, NM_130811.4:c.263G>T, NM_130811.3:c.263G>A, NM_130811.3:c.263G>T, NM_130811.2:c.263G>A, NM_130811.2:c.263G>T, NM_001322907.2:c.263G>A, NM_001322907.2:c.263G>T, NM_001322907.1:c.263G>A, NM_001322907.1:c.263G>T, NM_001322908.2:c.263G>A, NM_001322908.2:c.263G>T, NM_001322908.1:c.263G>A, NM_001322908.1:c.263G>T, NM_001322910.2:c.263G>A, NM_001322910.2:c.263G>T, NM_001322910.1:c.263G>A, NM_001322910.1:c.263G>T, NM_001322903.2:c.263G>A, NM_001322903.2:c.263G>T, NM_001322903.1:c.263G>A, NM_001322903.1:c.263G>T, NM_001322904.2:c.263G>A, NM_001322904.2:c.263G>T, NM_001322904.1:c.263G>A, NM_001322904.1:c.263G>T, NM_001322905.2:c.263G>A, NM_001322905.2:c.263G>T, NM_001322905.1:c.263G>A, NM_001322905.1:c.263G>T, NM_001322906.2:c.263G>A, NM_001322906.2:c.263G>T, NM_001322906.1:c.263G>A, NM_001322906.1:c.263G>T, NM_001322909.2:c.263G>A, NM_001322909.2:c.263G>T, NM_001322909.1:c.263G>A, NM_001322909.1:c.263G>T, XM_005260808.6:c.263G>A, XM_005260808.6:c.263G>T, XM_005260808.5:c.263G>A, XM_005260808.5:c.263G>T, XM_005260808.4:c.263G>A, XM_005260808.4:c.263G>T, XM_005260808.3:c.263G>A, XM_005260808.3:c.263G>T, XM_005260808.2:c.263G>A, XM_005260808.2:c.263G>T, XM_005260808.1:c.263G>A, XM_005260808.1:c.263G>T, XM_047440391.1:c.263G>A, XM_047440391.1:c.263G>T, NP_570824.1:p.Cys88Tyr, NP_570824.1:p.Cys88Phe, NP_001309836.1:p.Cys88Tyr, NP_001309836.1:p.Cys88Phe, NP_001309837.1:p.Cys88Tyr, NP_001309837.1:p.Cys88Phe, NP_001309839.1:p.Cys88Tyr, NP_001309839.1:p.Cys88Phe, NP_001309832.1:p.Cys88Tyr, NP_001309832.1:p.Cys88Phe, NP_001309833.1:p.Cys88Tyr, NP_001309833.1:p.Cys88Phe, NP_001309834.1:p.Cys88Tyr, NP_001309834.1:p.Cys88Phe, NP_001309835.1:p.Cys88Tyr, NP_001309835.1:p.Cys88Phe, NP_001309838.1:p.Cys88Tyr, NP_001309838.1:p.Cys88Phe, XP_005260865.1:p.Cys88Tyr, XP_005260865.1:p.Cys88Phe, XP_047296347.1:p.Cys88Tyr, XP_047296347.1:p.Cys88Phe

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