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Items: 1 to 20 of 371

1.

rs1490819588 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    11:67043816 (GRCh38)
    11:66811287 (GRCh37)
    Canonical SPDI:
    NC_000011.10:67043815:C:T
    Gene:
    SYT12 (Varview), MIR6860 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000011.10:g.67043816C>T, NC_000011.9:g.66811287C>T, XM_006718737.5:c.854C>T, XM_006718737.4:c.854C>T, XM_006718737.3:c.854C>T, XM_006718737.2:c.854C>T, XM_006718737.1:c.854C>T, XM_011545346.4:c.905C>T, XM_011545346.3:c.905C>T, XM_011545346.2:c.905C>T, XM_011545346.1:c.905C>T, NM_177963.4:c.800C>T, NM_177963.3:c.800C>T, NM_001318773.2:c.455C>T, NM_001318773.1:c.455C>T, NM_001318775.2:c.455C>T, NM_001318775.1:c.455C>T, NM_001177880.2:c.800C>T, NM_001177880.1:c.800C>T, XM_024448766.2:c.854C>T, XM_024448766.1:c.998C>T, XM_011545347.2:c.800C>T, XM_011545347.1:c.800C>T, XM_047427867.1:c.455C>T, XP_006718800.1:p.Pro285Leu, XP_011543648.1:p.Pro302Leu, NP_808878.1:p.Pro267Leu, NP_001305702.1:p.Pro152Leu, NP_001305704.1:p.Pro152Leu, NP_001171351.1:p.Pro267Leu, XP_024304534.2:p.Pro285Leu, XP_011543649.1:p.Pro267Leu, XP_047283823.1:p.Pro152Leu

    2.

    rs1483012698 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      11:67044681 (GRCh38)
      11:66812152 (GRCh37)
      Canonical SPDI:
      NC_000011.10:67044680:A:C
      Gene:
      SYT12 (Varview), MIR6860 (Varview)
      Functional Consequence:
      upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      C=0.000004/1 (TOPMED)
      HGVS:
      NC_000011.10:g.67044681A>C, NC_000011.9:g.66812152A>C, XM_006718737.5:c.980A>C, XM_006718737.4:c.980A>C, XM_006718737.3:c.980A>C, XM_006718737.2:c.980A>C, XM_006718737.1:c.980A>C, XM_011545346.4:c.1031A>C, XM_011545346.3:c.1031A>C, XM_011545346.2:c.1031A>C, XM_011545346.1:c.1031A>C, NM_177963.4:c.926A>C, NM_177963.3:c.926A>C, NM_001318773.2:c.581A>C, NM_001318773.1:c.581A>C, NM_001318775.2:c.581A>C, NM_001318775.1:c.581A>C, NM_001177880.2:c.926A>C, NM_001177880.1:c.926A>C, XM_024448766.2:c.980A>C, XM_024448766.1:c.1124A>C, XM_011545347.2:c.926A>C, XM_011545347.1:c.926A>C, XM_047427867.1:c.581A>C, XP_006718800.1:p.Asn327Thr, XP_011543648.1:p.Asn344Thr, NP_808878.1:p.Asn309Thr, NP_001305702.1:p.Asn194Thr, NP_001305704.1:p.Asn194Thr, NP_001171351.1:p.Asn309Thr, XP_024304534.2:p.Asn327Thr, XP_011543649.1:p.Asn309Thr, XP_047283823.1:p.Asn194Thr

      3.

      rs1477711075 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        11:67043824 (GRCh38)
        11:66811295 (GRCh37)
        Canonical SPDI:
        NC_000011.10:67043823:G:A
        Gene:
        SYT12 (Varview), MIR6860 (Varview)
        Functional Consequence:
        upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000011.10:g.67043824G>A, NC_000011.9:g.66811295G>A, XM_006718737.5:c.862G>A, XM_006718737.4:c.862G>A, XM_006718737.3:c.862G>A, XM_006718737.2:c.862G>A, XM_006718737.1:c.862G>A, XM_011545346.4:c.913G>A, XM_011545346.3:c.913G>A, XM_011545346.2:c.913G>A, XM_011545346.1:c.913G>A, NM_177963.4:c.808G>A, NM_177963.3:c.808G>A, NM_001318773.2:c.463G>A, NM_001318773.1:c.463G>A, NM_001318775.2:c.463G>A, NM_001318775.1:c.463G>A, NM_001177880.2:c.808G>A, NM_001177880.1:c.808G>A, XM_024448766.2:c.862G>A, XM_024448766.1:c.1006G>A, XM_011545347.2:c.808G>A, XM_011545347.1:c.808G>A, XM_047427867.1:c.463G>A, XP_006718800.1:p.Gly288Ser, XP_011543648.1:p.Gly305Ser, NP_808878.1:p.Gly270Ser, NP_001305702.1:p.Gly155Ser, NP_001305704.1:p.Gly155Ser, NP_001171351.1:p.Gly270Ser, XP_024304534.2:p.Gly288Ser, XP_011543649.1:p.Gly270Ser, XP_047283823.1:p.Gly155Ser

        4.

        rs1477544363 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          11:67040073 (GRCh38)
          11:66807544 (GRCh37)
          Canonical SPDI:
          NC_000011.10:67040072:C:G,NC_000011.10:67040072:C:T
          Gene:
          SYT12 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.00003/1 (ALFA)
          HGVS:
          NC_000011.10:g.67040073C>G, NC_000011.10:g.67040073C>T, NC_000011.9:g.66807544C>G, NC_000011.9:g.66807544C>T, XM_006718737.5:c.545C>G, XM_006718737.5:c.545C>T, XM_006718737.4:c.545C>G, XM_006718737.4:c.545C>T, XM_006718737.3:c.545C>G, XM_006718737.3:c.545C>T, XM_006718737.2:c.545C>G, XM_006718737.2:c.545C>T, XM_006718737.1:c.545C>G, XM_006718737.1:c.545C>T, XM_011545346.4:c.596C>G, XM_011545346.4:c.596C>T, XM_011545346.3:c.596C>G, XM_011545346.3:c.596C>T, XM_011545346.2:c.596C>G, XM_011545346.2:c.596C>T, XM_011545346.1:c.596C>G, XM_011545346.1:c.596C>T, NM_177963.4:c.491C>G, NM_177963.4:c.491C>T, NM_177963.3:c.491C>G, NM_177963.3:c.491C>T, NM_001318773.2:c.146C>G, NM_001318773.2:c.146C>T, NM_001318773.1:c.146C>G, NM_001318773.1:c.146C>T, NM_001318775.2:c.146C>G, NM_001318775.2:c.146C>T, NM_001318775.1:c.146C>G, NM_001318775.1:c.146C>T, NM_001177880.2:c.491C>G, NM_001177880.2:c.491C>T, NM_001177880.1:c.491C>G, NM_001177880.1:c.491C>T, XM_024448766.2:c.545C>G, XM_024448766.2:c.545C>T, XM_024448766.1:c.689C>G, XM_024448766.1:c.689C>T, XM_011545347.2:c.491C>G, XM_011545347.2:c.491C>T, XM_011545347.1:c.491C>G, XM_011545347.1:c.491C>T, XM_047427867.1:c.146C>G, XM_047427867.1:c.146C>T, XP_006718800.1:p.Thr182Ser, XP_006718800.1:p.Thr182Ile, XP_011543648.1:p.Thr199Ser, XP_011543648.1:p.Thr199Ile, NP_808878.1:p.Thr164Ser, NP_808878.1:p.Thr164Ile, NP_001305702.1:p.Thr49Ser, NP_001305702.1:p.Thr49Ile, NP_001305704.1:p.Thr49Ser, NP_001305704.1:p.Thr49Ile, NP_001171351.1:p.Thr164Ser, NP_001171351.1:p.Thr164Ile, XP_024304534.2:p.Thr182Ser, XP_024304534.2:p.Thr182Ile, XP_011543649.1:p.Thr164Ser, XP_011543649.1:p.Thr164Ile, XP_047283823.1:p.Thr49Ser, XP_047283823.1:p.Thr49Ile

          5.

          rs1474431470 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            11:67039959 (GRCh38)
            11:66807430 (GRCh37)
            Canonical SPDI:
            NC_000011.10:67039958:G:A
            Gene:
            SYT12 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.000051/1 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000011.10:g.67039959G>A, NC_000011.9:g.66807430G>A, XM_006718737.5:c.431G>A, XM_006718737.4:c.431G>A, XM_006718737.3:c.431G>A, XM_006718737.2:c.431G>A, XM_006718737.1:c.431G>A, XM_011545346.4:c.482G>A, XM_011545346.3:c.482G>A, XM_011545346.2:c.482G>A, XM_011545346.1:c.482G>A, NM_177963.4:c.377G>A, NM_177963.3:c.377G>A, NM_001318773.2:c.32G>A, NM_001318773.1:c.32G>A, NM_001318775.2:c.32G>A, NM_001318775.1:c.32G>A, NM_001177880.2:c.377G>A, NM_001177880.1:c.377G>A, XM_024448766.2:c.431G>A, XM_024448766.1:c.575G>A, XM_011545347.2:c.377G>A, XM_011545347.1:c.377G>A, XM_047427867.1:c.32G>A, XP_006718800.1:p.Gly144Glu, XP_011543648.1:p.Gly161Glu, NP_808878.1:p.Gly126Glu, NP_001305702.1:p.Gly11Glu, NP_001305704.1:p.Gly11Glu, NP_001171351.1:p.Gly126Glu, XP_024304534.2:p.Gly144Glu, XP_011543649.1:p.Gly126Glu, XP_047283823.1:p.Gly11Glu

            6.

            rs1470707421 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              11:67044684 (GRCh38)
              11:66812155 (GRCh37)
              Canonical SPDI:
              NC_000011.10:67044683:T:C
              Gene:
              SYT12 (Varview), MIR6860 (Varview)
              Functional Consequence:
              upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
              Validated:
              by frequency,by cluster
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              C=0.00046/8 (TOMMO)
              HGVS:
              NC_000011.10:g.67044684T>C, NC_000011.9:g.66812155T>C, XM_006718737.5:c.983T>C, XM_006718737.4:c.983T>C, XM_006718737.3:c.983T>C, XM_006718737.2:c.983T>C, XM_006718737.1:c.983T>C, XM_011545346.4:c.1034T>C, XM_011545346.3:c.1034T>C, XM_011545346.2:c.1034T>C, XM_011545346.1:c.1034T>C, NM_177963.4:c.929T>C, NM_177963.3:c.929T>C, NM_001318773.2:c.584T>C, NM_001318773.1:c.584T>C, NM_001318775.2:c.584T>C, NM_001318775.1:c.584T>C, NM_001177880.2:c.929T>C, NM_001177880.1:c.929T>C, XM_024448766.2:c.983T>C, XM_024448766.1:c.1127T>C, XM_011545347.2:c.929T>C, XM_011545347.1:c.929T>C, XM_047427867.1:c.584T>C, XP_006718800.1:p.Leu328Pro, XP_011543648.1:p.Leu345Pro, NP_808878.1:p.Leu310Pro, NP_001305702.1:p.Leu195Pro, NP_001305704.1:p.Leu195Pro, NP_001171351.1:p.Leu310Pro, XP_024304534.2:p.Leu328Pro, XP_011543649.1:p.Leu310Pro, XP_047283823.1:p.Leu195Pro

              7.

              rs1467726944 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                11:67040093 (GRCh38)
                11:66807564 (GRCh37)
                Canonical SPDI:
                NC_000011.10:67040092:G:A
                Gene:
                SYT12 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000012/3 (GnomAD_exomes)
                A=0.000342/1 (KOREAN)
                HGVS:
                NC_000011.10:g.67040093G>A, NC_000011.9:g.66807564G>A, XM_006718737.5:c.565G>A, XM_006718737.4:c.565G>A, XM_006718737.3:c.565G>A, XM_006718737.2:c.565G>A, XM_006718737.1:c.565G>A, XM_011545346.4:c.616G>A, XM_011545346.3:c.616G>A, XM_011545346.2:c.616G>A, XM_011545346.1:c.616G>A, NM_177963.4:c.511G>A, NM_177963.3:c.511G>A, NM_001318773.2:c.166G>A, NM_001318773.1:c.166G>A, NM_001318775.2:c.166G>A, NM_001318775.1:c.166G>A, NM_001177880.2:c.511G>A, NM_001177880.1:c.511G>A, XM_024448766.2:c.565G>A, XM_024448766.1:c.709G>A, XM_011545347.2:c.511G>A, XM_011545347.1:c.511G>A, XM_047427867.1:c.166G>A, XP_006718800.1:p.Val189Met, XP_011543648.1:p.Val206Met, NP_808878.1:p.Val171Met, NP_001305702.1:p.Val56Met, NP_001305704.1:p.Val56Met, NP_001171351.1:p.Val171Met, XP_024304534.2:p.Val189Met, XP_011543649.1:p.Val171Met, XP_047283823.1:p.Val56Met

                8.

                rs1465829409 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  11:67045786 (GRCh38)
                  11:66813257 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:67045785:T:C
                  Gene:
                  SYT12 (Varview), MIR6860 (Varview)
                  Functional Consequence:
                  500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000011.10:g.67045786T>C, NC_000011.9:g.66813257T>C, XM_006718737.5:c.1055T>C, XM_006718737.4:c.1055T>C, XM_006718737.3:c.1055T>C, XM_006718737.2:c.1055T>C, XM_006718737.1:c.1055T>C, XM_011545346.4:c.1106T>C, XM_011545346.3:c.1106T>C, XM_011545346.2:c.1106T>C, XM_011545346.1:c.1106T>C, NM_177963.4:c.1001T>C, NM_177963.3:c.1001T>C, NM_001318773.2:c.656T>C, NM_001318773.1:c.656T>C, NM_001318775.2:c.656T>C, NM_001318775.1:c.656T>C, NM_001177880.2:c.1001T>C, NM_001177880.1:c.1001T>C, XM_024448766.2:c.1055T>C, XM_024448766.1:c.1199T>C, XM_011545347.2:c.1001T>C, XM_011545347.1:c.1001T>C, XM_047427867.1:c.656T>C, XP_006718800.1:p.Met352Thr, XP_011543648.1:p.Met369Thr, NP_808878.1:p.Met334Thr, NP_001305702.1:p.Met219Thr, NP_001305704.1:p.Met219Thr, NP_001171351.1:p.Met334Thr, XP_024304534.2:p.Met352Thr, XP_011543649.1:p.Met334Thr, XP_047283823.1:p.Met219Thr

                  9.

                  rs1462344683 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    11:67045750 (GRCh38)
                    11:66813221 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:67045749:T:G
                    Gene:
                    SYT12 (Varview), MIR6860 (Varview)
                    Functional Consequence:
                    500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.0002/1 (ALFA)
                    G=0.0002/1 (Estonian)
                    HGVS:
                    NC_000011.10:g.67045750T>G, NC_000011.9:g.66813221T>G, XM_006718737.5:c.1019T>G, XM_006718737.4:c.1019T>G, XM_006718737.3:c.1019T>G, XM_006718737.2:c.1019T>G, XM_006718737.1:c.1019T>G, XM_011545346.4:c.1070T>G, XM_011545346.3:c.1070T>G, XM_011545346.2:c.1070T>G, XM_011545346.1:c.1070T>G, NM_177963.4:c.965T>G, NM_177963.3:c.965T>G, NM_001318773.2:c.620T>G, NM_001318773.1:c.620T>G, NM_001318775.2:c.620T>G, NM_001318775.1:c.620T>G, NM_001177880.2:c.965T>G, NM_001177880.1:c.965T>G, XM_024448766.2:c.1019T>G, XM_024448766.1:c.1163T>G, XM_011545347.2:c.965T>G, XM_011545347.1:c.965T>G, XM_047427867.1:c.620T>G, XP_006718800.1:p.Phe340Cys, XP_011543648.1:p.Phe357Cys, NP_808878.1:p.Phe322Cys, NP_001305702.1:p.Phe207Cys, NP_001305704.1:p.Phe207Cys, NP_001171351.1:p.Phe322Cys, XP_024304534.2:p.Phe340Cys, XP_011543649.1:p.Phe322Cys, XP_047283823.1:p.Phe207Cys

                    10.

                    rs1461790496 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      11:67043840 (GRCh38)
                      11:66811311 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:67043839:A:G
                      Gene:
                      SYT12 (Varview), MIR6860 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000011.10:g.67043840A>G, NC_000011.9:g.66811311A>G, XM_006718737.5:c.878A>G, XM_006718737.4:c.878A>G, XM_006718737.3:c.878A>G, XM_006718737.2:c.878A>G, XM_006718737.1:c.878A>G, XM_011545346.4:c.929A>G, XM_011545346.3:c.929A>G, XM_011545346.2:c.929A>G, XM_011545346.1:c.929A>G, NM_177963.4:c.824A>G, NM_177963.3:c.824A>G, NM_001318773.2:c.479A>G, NM_001318773.1:c.479A>G, NM_001318775.2:c.479A>G, NM_001318775.1:c.479A>G, NM_001177880.2:c.824A>G, NM_001177880.1:c.824A>G, XM_024448766.2:c.878A>G, XM_024448766.1:c.1022A>G, XM_011545347.2:c.824A>G, XM_011545347.1:c.824A>G, XM_047427867.1:c.479A>G, XP_006718800.1:p.Gln293Arg, XP_011543648.1:p.Gln310Arg, NP_808878.1:p.Gln275Arg, NP_001305702.1:p.Gln160Arg, NP_001305704.1:p.Gln160Arg, NP_001171351.1:p.Gln275Arg, XP_024304534.2:p.Gln293Arg, XP_011543649.1:p.Gln275Arg, XP_047283823.1:p.Gln160Arg

                      11.

                      rs1458265422 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        11:67040199 (GRCh38)
                        11:66807670 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:67040198:C:A
                        Gene:
                        SYT12 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000005/1 (GnomAD_exomes)
                        HGVS:
                        NC_000011.10:g.67040199C>A, NC_000011.9:g.66807670C>A, XM_006718737.5:c.671C>A, XM_006718737.4:c.671C>A, XM_006718737.3:c.671C>A, XM_006718737.2:c.671C>A, XM_006718737.1:c.671C>A, XM_011545346.4:c.722C>A, XM_011545346.3:c.722C>A, XM_011545346.2:c.722C>A, XM_011545346.1:c.722C>A, NM_177963.4:c.617C>A, NM_177963.3:c.617C>A, NM_001318773.2:c.272C>A, NM_001318773.1:c.272C>A, NM_001318775.2:c.272C>A, NM_001318775.1:c.272C>A, NM_001177880.2:c.617C>A, NM_001177880.1:c.617C>A, XM_024448766.2:c.671C>A, XM_024448766.1:c.815C>A, XM_011545347.2:c.617C>A, XM_011545347.1:c.617C>A, XM_047427867.1:c.272C>A, XP_006718800.1:p.Ser224Tyr, XP_011543648.1:p.Ser241Tyr, NP_808878.1:p.Ser206Tyr, NP_001305702.1:p.Ser91Tyr, NP_001305704.1:p.Ser91Tyr, NP_001171351.1:p.Ser206Tyr, XP_024304534.2:p.Ser224Tyr, XP_011543649.1:p.Ser206Tyr, XP_047283823.1:p.Ser91Tyr

                        12.

                        rs1456210808 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          11:67044602 (GRCh38)
                          11:66812073 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:67044601:G:A
                          Gene:
                          SYT12 (Varview), MIR6860 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000011.10:g.67044602G>A, NC_000011.9:g.66812073G>A, XM_006718737.5:c.901G>A, XM_006718737.4:c.901G>A, XM_006718737.3:c.901G>A, XM_006718737.2:c.901G>A, XM_006718737.1:c.901G>A, XM_011545346.4:c.952G>A, XM_011545346.3:c.952G>A, XM_011545346.2:c.952G>A, XM_011545346.1:c.952G>A, NM_177963.4:c.847G>A, NM_177963.3:c.847G>A, NM_001318773.2:c.502G>A, NM_001318773.1:c.502G>A, NM_001318775.2:c.502G>A, NM_001318775.1:c.502G>A, NM_001177880.2:c.847G>A, NM_001177880.1:c.847G>A, XM_024448766.2:c.901G>A, XM_024448766.1:c.1045G>A, XM_011545347.2:c.847G>A, XM_011545347.1:c.847G>A, XM_047427867.1:c.502G>A, XP_006718800.1:p.Ala301Thr, XP_011543648.1:p.Ala318Thr, NP_808878.1:p.Ala283Thr, NP_001305702.1:p.Ala168Thr, NP_001305704.1:p.Ala168Thr, NP_001171351.1:p.Ala283Thr, XP_024304534.2:p.Ala301Thr, XP_011543649.1:p.Ala283Thr, XP_047283823.1:p.Ala168Thr

                          13.

                          rs1455541530 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            11:67048644 (GRCh38)
                            11:66816115 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:67048643:G:A
                            Gene:
                            SYT12 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000035/1 (TOMMO)
                            HGVS:
                            NC_000011.10:g.67048644G>A, NC_000011.9:g.66816115G>A, XM_006718737.5:c.1207G>A, XM_006718737.4:c.1207G>A, XM_006718737.3:c.1207G>A, XM_006718737.2:c.1207G>A, XM_006718737.1:c.1207G>A, XM_011545346.4:c.1258G>A, XM_011545346.3:c.1258G>A, XM_011545346.2:c.1258G>A, XM_011545346.1:c.1258G>A, NM_177963.4:c.1153G>A, NM_177963.3:c.1153G>A, NM_001318773.2:c.808G>A, NM_001318773.1:c.808G>A, NM_001318775.2:c.808G>A, NM_001318775.1:c.808G>A, NM_001177880.2:c.1153G>A, NM_001177880.1:c.1153G>A, XM_024448766.2:c.1207G>A, XM_024448766.1:c.1351G>A, XM_011545347.2:c.1153G>A, XM_011545347.1:c.1153G>A, XM_047427867.1:c.808G>A, XP_006718800.1:p.Gly403Ser, XP_011543648.1:p.Gly420Ser, NP_808878.1:p.Gly385Ser, NP_001305702.1:p.Gly270Ser, NP_001305704.1:p.Gly270Ser, NP_001171351.1:p.Gly385Ser, XP_024304534.2:p.Gly403Ser, XP_011543649.1:p.Gly385Ser, XP_047283823.1:p.Gly270Ser

                            14.

                            rs1445640600 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              11:67044713 (GRCh38)
                              11:66812184 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:67044712:G:A,NC_000011.10:67044712:G:C
                              Gene:
                              SYT12 (Varview), MIR6860 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000011.10:g.67044713G>A, NC_000011.10:g.67044713G>C, NC_000011.9:g.66812184G>A, NC_000011.9:g.66812184G>C, XM_006718737.5:c.1012G>A, XM_006718737.5:c.1012G>C, XM_006718737.4:c.1012G>A, XM_006718737.4:c.1012G>C, XM_006718737.3:c.1012G>A, XM_006718737.3:c.1012G>C, XM_006718737.2:c.1012G>A, XM_006718737.2:c.1012G>C, XM_006718737.1:c.1012G>A, XM_006718737.1:c.1012G>C, XM_011545346.4:c.1063G>A, XM_011545346.4:c.1063G>C, XM_011545346.3:c.1063G>A, XM_011545346.3:c.1063G>C, XM_011545346.2:c.1063G>A, XM_011545346.2:c.1063G>C, XM_011545346.1:c.1063G>A, XM_011545346.1:c.1063G>C, NM_177963.4:c.958G>A, NM_177963.4:c.958G>C, NM_177963.3:c.958G>A, NM_177963.3:c.958G>C, NM_001318773.2:c.613G>A, NM_001318773.2:c.613G>C, NM_001318773.1:c.613G>A, NM_001318773.1:c.613G>C, NM_001318775.2:c.613G>A, NM_001318775.2:c.613G>C, NM_001318775.1:c.613G>A, NM_001318775.1:c.613G>C, NM_001177880.2:c.958G>A, NM_001177880.2:c.958G>C, NM_001177880.1:c.958G>A, NM_001177880.1:c.958G>C, XM_024448766.2:c.1012G>A, XM_024448766.2:c.1012G>C, XM_024448766.1:c.1156G>A, XM_024448766.1:c.1156G>C, XM_011545347.2:c.958G>A, XM_011545347.2:c.958G>C, XM_011545347.1:c.958G>A, XM_011545347.1:c.958G>C, XM_047427867.1:c.613G>A, XM_047427867.1:c.613G>C, XP_006718800.1:p.Asp338Asn, XP_006718800.1:p.Asp338His, XP_011543648.1:p.Asp355Asn, XP_011543648.1:p.Asp355His, NP_808878.1:p.Asp320Asn, NP_808878.1:p.Asp320His, NP_001305702.1:p.Asp205Asn, NP_001305702.1:p.Asp205His, NP_001305704.1:p.Asp205Asn, NP_001305704.1:p.Asp205His, NP_001171351.1:p.Asp320Asn, NP_001171351.1:p.Asp320His, XP_024304534.2:p.Asp338Asn, XP_024304534.2:p.Asp338His, XP_011543649.1:p.Asp320Asn, XP_011543649.1:p.Asp320His, XP_047283823.1:p.Asp205Asn, XP_047283823.1:p.Asp205His

                              15.

                              rs1444450312 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                11:67048641 (GRCh38)
                                11:66816112 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:67048640:G:A
                                Gene:
                                SYT12 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000028/1 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                A=0.000011/3 (TOPMED)
                                A=0.000029/4 (GnomAD)
                                HGVS:
                                NC_000011.10:g.67048641G>A, NC_000011.9:g.66816112G>A, XM_006718737.5:c.1204G>A, XM_006718737.4:c.1204G>A, XM_006718737.3:c.1204G>A, XM_006718737.2:c.1204G>A, XM_006718737.1:c.1204G>A, XM_011545346.4:c.1255G>A, XM_011545346.3:c.1255G>A, XM_011545346.2:c.1255G>A, XM_011545346.1:c.1255G>A, NM_177963.4:c.1150G>A, NM_177963.3:c.1150G>A, NM_001318773.2:c.805G>A, NM_001318773.1:c.805G>A, NM_001318775.2:c.805G>A, NM_001318775.1:c.805G>A, NM_001177880.2:c.1150G>A, NM_001177880.1:c.1150G>A, XM_024448766.2:c.1204G>A, XM_024448766.1:c.1348G>A, XM_011545347.2:c.1150G>A, XM_011545347.1:c.1150G>A, XM_047427867.1:c.805G>A, XP_006718800.1:p.Val402Met, XP_011543648.1:p.Val419Met, NP_808878.1:p.Val384Met, NP_001305702.1:p.Val269Met, NP_001305704.1:p.Val269Met, NP_001171351.1:p.Val384Met, XP_024304534.2:p.Val402Met, XP_011543649.1:p.Val384Met, XP_047283823.1:p.Val269Met

                                16.

                                rs1441241906 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  G>- [Show Flanks]
                                  Chromosome:
                                  11:67048599 (GRCh38)
                                  11:66816070 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:67048598:G:
                                  Gene:
                                  SYT12 (Varview)
                                  Functional Consequence:
                                  stop_gained,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  -=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  -=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000011.10:g.67048599del, NC_000011.9:g.66816070del, XM_006718737.5:c.1162del, XM_006718737.4:c.1162del, XM_006718737.3:c.1162del, XM_006718737.2:c.1162del, XM_006718737.1:c.1162del, XM_011545346.4:c.1213del, XM_011545346.3:c.1213del, XM_011545346.2:c.1213del, XM_011545346.1:c.1213del, NM_177963.4:c.1108del, NM_177963.3:c.1108del, NM_001318773.2:c.763del, NM_001318773.1:c.763del, NM_001318775.2:c.763del, NM_001318775.1:c.763del, NM_001177880.2:c.1108del, NM_001177880.1:c.1108del, XM_024448766.2:c.1162del, XM_024448766.1:c.1306del, XM_011545347.2:c.1108del, XM_011545347.1:c.1108del, XM_047427867.1:c.763del, XP_006718800.1:p.Arg387_Val388insTer, XP_011543648.1:p.Arg404_Val405insTer, NP_808878.1:p.Arg369_Val370insTer, NP_001305702.1:p.Arg254_Val255insTer, NP_001305704.1:p.Arg254_Val255insTer, NP_001171351.1:p.Arg369_Val370insTer, XP_024304534.2:p.Arg387_Val388insTer, XP_011543649.1:p.Arg369_Val370insTer, XP_047283823.1:p.Arg254_Val255insTer

                                  17.

                                  rs1431565596 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    11:67048747 (GRCh38)
                                    11:66816218 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:67048746:G:A
                                    Gene:
                                    SYT12 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000008/2 (GnomAD_exomes)
                                    A=0.000035/1 (TOMMO)
                                    A=0.000342/1 (KOREAN)
                                    HGVS:
                                    NC_000011.10:g.67048747G>A, NC_000011.9:g.66816218G>A, XM_006718737.5:c.1310G>A, XM_006718737.4:c.1310G>A, XM_006718737.3:c.1310G>A, XM_006718737.2:c.1310G>A, XM_006718737.1:c.1310G>A, XM_011545346.4:c.1361G>A, XM_011545346.3:c.1361G>A, XM_011545346.2:c.1361G>A, XM_011545346.1:c.1361G>A, NM_177963.4:c.1256G>A, NM_177963.3:c.1256G>A, NM_001318773.2:c.911G>A, NM_001318773.1:c.911G>A, NM_001318775.2:c.911G>A, NM_001318775.1:c.911G>A, NM_001177880.2:c.1256G>A, NM_001177880.1:c.1256G>A, XM_024448766.2:c.1310G>A, XM_024448766.1:c.1454G>A, XM_011545347.2:c.1256G>A, XM_011545347.1:c.1256G>A, XM_047427867.1:c.911G>A, XP_006718800.1:p.Arg437Gln, XP_011543648.1:p.Arg454Gln, NP_808878.1:p.Arg419Gln, NP_001305702.1:p.Arg304Gln, NP_001305704.1:p.Arg304Gln, NP_001171351.1:p.Arg419Gln, XP_024304534.2:p.Arg437Gln, XP_011543649.1:p.Arg419Gln, XP_047283823.1:p.Arg304Gln

                                    18.

                                    rs1428360313 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      11:67045826 (GRCh38)
                                      11:66813297 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:67045825:C:T
                                      Gene:
                                      SYT12 (Varview), MIR6860 (Varview)
                                      Functional Consequence:
                                      500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.00007/1 (TOMMO)
                                      HGVS:

                                      19.

                                      rs1427112177 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        11:67043841 (GRCh38)
                                        11:66811312 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:67043840:G:A
                                        Gene:
                                        SYT12 (Varview), MIR6860 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000031/1 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000008/2 (GnomAD_exomes)
                                        A=0.000014/2 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1426987451 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          11:67039966 (GRCh38)
                                          11:66807437 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:67039965:C:T
                                          Gene:
                                          SYT12 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:

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