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Items: 1 to 20 of 1132

1.

rs1490254371 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    9:35398969 (GRCh38)
    9:35398966 (GRCh37)
    Canonical SPDI:
    NC_000009.12:35398968:C:G
    Gene:
    UNC13B (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000009.12:g.35398969C>G, NC_000009.11:g.35398966C>G, NG_033014.1:g.241978C>G, NM_006377.6:c.3762C>G, NM_006377.5:c.3762C>G, NM_006377.4:c.3762C>G, NM_006377.3:c.3762C>G, NM_001330653.3:c.3762C>G, NM_001330653.2:c.3762C>G, NM_001330653.1:c.3762C>G, NM_001371189.2:c.12009C>G, NM_001371189.1:c.12009C>G, NM_001371187.2:c.4902C>G, NM_001371187.1:c.4902C>G, NM_001371186.2:c.3759C>G, NM_001371186.1:c.3759C>G, NM_001371188.2:c.2652C>G, NM_001371188.1:c.2652C>G, NM_001387555.1:c.4899C>G, NR_170667.1:n.4066C>G, NM_001387551.1:c.3798C>G, NM_001387553.1:c.3615C>G, NM_001387554.1:c.3612C>G, XM_011517686.3:c.2652C>G, XM_011517686.2:c.2652C>G, XM_011517686.1:c.2652C>G, XM_047422600.1:c.4902C>G, XM_047422601.1:c.4899C>G, XM_047422602.1:c.3687C>G, XM_047422603.1:c.3687C>G, XM_047422604.1:c.3684C>G, XM_047422605.1:c.2649C>G

    2.

    rs1488671746 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      9:35397172 (GRCh38)
      9:35397169 (GRCh37)
      Canonical SPDI:
      NC_000009.12:35397171:G:A,NC_000009.12:35397171:G:T
      Gene:
      UNC13B (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,missense_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000009.12:g.35397172G>A, NC_000009.12:g.35397172G>T, NC_000009.11:g.35397169G>A, NC_000009.11:g.35397169G>T, NG_033014.1:g.240181G>A, NG_033014.1:g.240181G>T, NM_006377.6:c.3291G>A, NM_006377.6:c.3291G>T, NM_006377.5:c.3291G>A, NM_006377.5:c.3291G>T, NM_006377.4:c.3291G>A, NM_006377.4:c.3291G>T, NM_006377.3:c.3291G>A, NM_006377.3:c.3291G>T, NM_001330653.3:c.3291G>A, NM_001330653.3:c.3291G>T, NM_001330653.2:c.3291G>A, NM_001330653.2:c.3291G>T, NM_001330653.1:c.3291G>A, NM_001330653.1:c.3291G>T, NM_001371189.2:c.11538G>A, NM_001371189.2:c.11538G>T, NM_001371189.1:c.11538G>A, NM_001371189.1:c.11538G>T, NM_001371187.2:c.4431G>A, NM_001371187.2:c.4431G>T, NM_001371187.1:c.4431G>A, NM_001371187.1:c.4431G>T, NM_001371186.2:c.3288G>A, NM_001371186.2:c.3288G>T, NM_001371186.1:c.3288G>A, NM_001371186.1:c.3288G>T, NM_001371188.2:c.2181G>A, NM_001371188.2:c.2181G>T, NM_001371188.1:c.2181G>A, NM_001371188.1:c.2181G>T, NM_001387555.1:c.4428G>A, NM_001387555.1:c.4428G>T, NR_170667.1:n.3595G>A, NR_170667.1:n.3595G>T, NM_001387551.1:c.3327G>A, NM_001387551.1:c.3327G>T, NM_001387553.1:c.3144G>A, NM_001387553.1:c.3144G>T, NM_001387554.1:c.3141G>A, NM_001387554.1:c.3141G>T, XM_011517686.3:c.2181G>A, XM_011517686.3:c.2181G>T, XM_011517686.2:c.2181G>A, XM_011517686.2:c.2181G>T, XM_011517686.1:c.2181G>A, XM_011517686.1:c.2181G>T, XM_047422600.1:c.4431G>A, XM_047422600.1:c.4431G>T, XM_047422601.1:c.4428G>A, XM_047422601.1:c.4428G>T, XM_047422602.1:c.3216G>A, XM_047422602.1:c.3216G>T, XM_047422603.1:c.3216G>A, XM_047422603.1:c.3216G>T, XM_047422604.1:c.3213G>A, XM_047422604.1:c.3213G>T, XM_047422605.1:c.2178G>A, XM_047422605.1:c.2178G>T, NP_006368.3:p.Gln1097His, NP_001317582.1:p.Gln1097His, NP_001358118.1:p.Gln3846His, NP_001358116.1:p.Gln1477His, NP_001358115.1:p.Gln1096His, NP_001358117.1:p.Gln727His, NP_001374484.1:p.Gln1476His, NP_001374480.1:p.Gln1109His, NP_001374482.1:p.Gln1048His, NP_001374483.1:p.Gln1047His, XP_011515988.1:p.Gln727His, XP_047278556.1:p.Gln1477His, XP_047278557.1:p.Gln1476His, XP_047278558.1:p.Gln1072His, XP_047278559.1:p.Gln1072His, XP_047278560.1:p.Gln1071His, XP_047278561.1:p.Gln726His

      3.

      rs1488629237 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        9:35380549 (GRCh38)
        9:35380546 (GRCh37)
        Canonical SPDI:
        NC_000009.12:35380548:C:T
        Gene:
        UNC13B (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000056/2 (ALFA)
        T=0.000008/2 (GnomAD_exomes)
        T=0.000014/2 (GnomAD)
        T=0.000019/5 (TOPMED)
        HGVS:
        NC_000009.12:g.35380549C>T, NC_000009.11:g.35380546C>T, NG_033014.1:g.223558C>T, NM_006377.6:c.2038C>T, NM_006377.5:c.2038C>T, NM_006377.4:c.2038C>T, NM_006377.3:c.2038C>T, NM_001330653.3:c.2038C>T, NM_001330653.2:c.2038C>T, NM_001330653.1:c.2038C>T, NM_001371189.2:c.10285C>T, NM_001371189.1:c.10285C>T, NM_001371187.2:c.3178C>T, NM_001371187.1:c.3178C>T, NM_001371186.2:c.2038C>T, NM_001371186.1:c.2038C>T, NM_001371188.2:c.928C>T, NM_001371188.1:c.928C>T, NM_001387555.1:c.3178C>T, NR_170667.1:n.2342C>T, NM_001387551.1:c.2074C>T, NM_001387553.1:c.1891C>T, NM_001387554.1:c.1891C>T, XM_011517686.3:c.928C>T, XM_011517686.2:c.928C>T, XM_011517686.1:c.928C>T, XM_047422600.1:c.3178C>T, XM_047422601.1:c.3178C>T, XM_047422602.1:c.1963C>T, XM_047422603.1:c.1963C>T, XM_047422604.1:c.1963C>T, XM_047422605.1:c.928C>T, NP_006368.3:p.Arg680Cys, NP_001317582.1:p.Arg680Cys, NP_001358118.1:p.Arg3429Cys, NP_001358116.1:p.Arg1060Cys, NP_001358115.1:p.Arg680Cys, NP_001358117.1:p.Arg310Cys, NP_001374484.1:p.Arg1060Cys, NP_001374480.1:p.Arg692Cys, NP_001374482.1:p.Arg631Cys, NP_001374483.1:p.Arg631Cys, XP_011515988.1:p.Arg310Cys, XP_047278556.1:p.Arg1060Cys, XP_047278557.1:p.Arg1060Cys, XP_047278558.1:p.Arg655Cys, XP_047278559.1:p.Arg655Cys, XP_047278560.1:p.Arg655Cys, XP_047278561.1:p.Arg310Cys

        4.

        rs1488434330 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          9:35403764 (GRCh38)
          9:35403761 (GRCh37)
          Canonical SPDI:
          NC_000009.12:35403763:G:A
          Gene:
          UNC13B (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,missense_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000009.12:g.35403764G>A, NC_000009.11:g.35403761G>A, NG_033014.1:g.246773G>A, NM_006377.6:c.4507G>A, NM_006377.5:c.4507G>A, NM_006377.4:c.4507G>A, NM_006377.3:c.4507G>A, NM_001330653.3:c.4564G>A, NM_001330653.2:c.4564G>A, NM_001330653.1:c.4564G>A, NM_001371189.2:c.12754G>A, NM_001371189.1:c.12754G>A, NM_001371187.2:c.5704G>A, NM_001371187.1:c.5704G>A, NM_001371186.2:c.4504G>A, NM_001371186.1:c.4504G>A, NM_001371188.2:c.3397G>A, NM_001371188.1:c.3397G>A, NM_001387555.1:c.5701G>A, NR_170667.1:n.4868G>A, NM_001387551.1:c.4543G>A, NM_001387553.1:c.4360G>A, NM_001387554.1:c.4357G>A, XM_011517686.3:c.3454G>A, XM_011517686.2:c.3454G>A, XM_011517686.1:c.3454G>A, XM_047422600.1:c.5647G>A, XM_047422601.1:c.5644G>A, XM_047422602.1:c.4489G>A, XM_047422603.1:c.4432G>A, XM_047422604.1:c.4429G>A, XM_047422605.1:c.3394G>A, NP_006368.3:p.Glu1503Lys, NP_001317582.1:p.Glu1522Lys, NP_001358118.1:p.Glu4252Lys, NP_001358116.1:p.Glu1902Lys, NP_001358115.1:p.Glu1502Lys, NP_001358117.1:p.Glu1133Lys, NP_001374484.1:p.Glu1901Lys, NP_001374480.1:p.Glu1515Lys, NP_001374482.1:p.Glu1454Lys, NP_001374483.1:p.Glu1453Lys, XP_011515988.1:p.Glu1152Lys, XP_047278556.1:p.Glu1883Lys, XP_047278557.1:p.Glu1882Lys, XP_047278558.1:p.Glu1497Lys, XP_047278559.1:p.Glu1478Lys, XP_047278560.1:p.Glu1477Lys, XP_047278561.1:p.Glu1132Lys

          5.

          rs1486408597 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            9:35366987 (GRCh38)
            9:35366984 (GRCh37)
            Canonical SPDI:
            NC_000009.12:35366986:C:T
            Gene:
            UNC13B (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000049/2 (ALFA)
            T=0.000014/2 (GnomAD)
            T=0.00002/5 (GnomAD_exomes)
            HGVS:
            NC_000009.12:g.35366987C>T, NC_000009.11:g.35366984C>T, NG_033014.1:g.209996C>T, NM_006377.6:c.1208C>T, NM_006377.5:c.1208C>T, NM_006377.4:c.1208C>T, NM_006377.3:c.1208C>T, NM_001330653.3:c.1208C>T, NM_001330653.2:c.1208C>T, NM_001330653.1:c.1208C>T, NM_001371189.2:c.9455C>T, NM_001371189.1:c.9455C>T, NM_001371187.2:c.2348C>T, NM_001371187.1:c.2348C>T, NM_001371186.2:c.1208C>T, NM_001371186.1:c.1208C>T, NM_001371188.2:c.98C>T, NM_001371188.1:c.98C>T, NM_001387555.1:c.2348C>T, NR_170667.1:n.1506C>T, NM_001387551.1:c.1244C>T, NM_001387553.1:c.1061C>T, NM_001387554.1:c.1061C>T, XM_011517686.3:c.98C>T, XM_011517686.2:c.98C>T, XM_011517686.1:c.98C>T, XM_047422600.1:c.2348C>T, XM_047422601.1:c.2348C>T, XM_047422602.1:c.1208C>T, XM_047422603.1:c.1208C>T, XM_047422604.1:c.1208C>T, XM_047422605.1:c.98C>T, NP_006368.3:p.Pro403Leu, NP_001317582.1:p.Pro403Leu, NP_001358118.1:p.Pro3152Leu, NP_001358116.1:p.Pro783Leu, NP_001358115.1:p.Pro403Leu, NP_001358117.1:p.Pro33Leu, NP_001374484.1:p.Pro783Leu, NP_001374480.1:p.Pro415Leu, NP_001374482.1:p.Pro354Leu, NP_001374483.1:p.Pro354Leu, XP_011515988.1:p.Pro33Leu, XP_047278556.1:p.Pro783Leu, XP_047278557.1:p.Pro783Leu, XP_047278558.1:p.Pro403Leu, XP_047278559.1:p.Pro403Leu, XP_047278560.1:p.Pro403Leu, XP_047278561.1:p.Pro33Leu

            6.

            rs1486321422 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              9:35398223 (GRCh38)
              9:35398220 (GRCh37)
              Canonical SPDI:
              NC_000009.12:35398222:A:G
              Gene:
              UNC13B (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,missense_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_000009.12:g.35398223A>G, NC_000009.11:g.35398220A>G, NG_033014.1:g.241232A>G, NM_006377.6:c.3520A>G, NM_006377.5:c.3520A>G, NM_006377.4:c.3520A>G, NM_006377.3:c.3520A>G, NM_001330653.3:c.3520A>G, NM_001330653.2:c.3520A>G, NM_001330653.1:c.3520A>G, NM_001371189.2:c.11767A>G, NM_001371189.1:c.11767A>G, NM_001371187.2:c.4660A>G, NM_001371187.1:c.4660A>G, NM_001371186.2:c.3517A>G, NM_001371186.1:c.3517A>G, NM_001371188.2:c.2410A>G, NM_001371188.1:c.2410A>G, NM_001387555.1:c.4657A>G, NR_170667.1:n.3824A>G, NM_001387551.1:c.3556A>G, NM_001387553.1:c.3373A>G, NM_001387554.1:c.3370A>G, XM_011517686.3:c.2410A>G, XM_011517686.2:c.2410A>G, XM_011517686.1:c.2410A>G, XM_047422600.1:c.4660A>G, XM_047422601.1:c.4657A>G, XM_047422602.1:c.3445A>G, XM_047422603.1:c.3445A>G, XM_047422604.1:c.3442A>G, XM_047422605.1:c.2407A>G, NP_006368.3:p.Met1174Val, NP_001317582.1:p.Met1174Val, NP_001358118.1:p.Met3923Val, NP_001358116.1:p.Met1554Val, NP_001358115.1:p.Met1173Val, NP_001358117.1:p.Met804Val, NP_001374484.1:p.Met1553Val, NP_001374480.1:p.Met1186Val, NP_001374482.1:p.Met1125Val, NP_001374483.1:p.Met1124Val, XP_011515988.1:p.Met804Val, XP_047278556.1:p.Met1554Val, XP_047278557.1:p.Met1553Val, XP_047278558.1:p.Met1149Val, XP_047278559.1:p.Met1149Val, XP_047278560.1:p.Met1148Val, XP_047278561.1:p.Met803Val

              7.

              rs1485558172 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                9:35382357 (GRCh38)
                9:35382354 (GRCh37)
                Canonical SPDI:
                NC_000009.12:35382356:G:A,NC_000009.12:35382356:G:T
                Gene:
                UNC13B (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000028/1 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                T=0.000008/2 (TOPMED)
                T=0.000014/2 (GnomAD)
                HGVS:
                NC_000009.12:g.35382357G>A, NC_000009.12:g.35382357G>T, NC_000009.11:g.35382354G>A, NC_000009.11:g.35382354G>T, NG_033014.1:g.225366G>A, NG_033014.1:g.225366G>T, NM_006377.6:c.2409G>A, NM_006377.6:c.2409G>T, NM_006377.5:c.2409G>A, NM_006377.5:c.2409G>T, NM_006377.4:c.2409G>A, NM_006377.4:c.2409G>T, NM_006377.3:c.2409G>A, NM_006377.3:c.2409G>T, NM_001330653.3:c.2409G>A, NM_001330653.3:c.2409G>T, NM_001330653.2:c.2409G>A, NM_001330653.2:c.2409G>T, NM_001330653.1:c.2409G>A, NM_001330653.1:c.2409G>T, NM_001371189.2:c.10656G>A, NM_001371189.2:c.10656G>T, NM_001371189.1:c.10656G>A, NM_001371189.1:c.10656G>T, NM_001371187.2:c.3549G>A, NM_001371187.2:c.3549G>T, NM_001371187.1:c.3549G>A, NM_001371187.1:c.3549G>T, NM_001371186.2:c.2409G>A, NM_001371186.2:c.2409G>T, NM_001371186.1:c.2409G>A, NM_001371186.1:c.2409G>T, NM_001371188.2:c.1299G>A, NM_001371188.2:c.1299G>T, NM_001371188.1:c.1299G>A, NM_001371188.1:c.1299G>T, NM_001387555.1:c.3549G>A, NM_001387555.1:c.3549G>T, NR_170667.1:n.2713G>A, NR_170667.1:n.2713G>T, NM_001387551.1:c.2445G>A, NM_001387551.1:c.2445G>T, NM_001387553.1:c.2262G>A, NM_001387553.1:c.2262G>T, NM_001387554.1:c.2262G>A, NM_001387554.1:c.2262G>T, XM_011517686.3:c.1299G>A, XM_011517686.3:c.1299G>T, XM_011517686.2:c.1299G>A, XM_011517686.2:c.1299G>T, XM_011517686.1:c.1299G>A, XM_011517686.1:c.1299G>T, XM_047422600.1:c.3549G>A, XM_047422600.1:c.3549G>T, XM_047422601.1:c.3549G>A, XM_047422601.1:c.3549G>T, XM_047422602.1:c.2334G>A, XM_047422602.1:c.2334G>T, XM_047422603.1:c.2334G>A, XM_047422603.1:c.2334G>T, XM_047422604.1:c.2334G>A, XM_047422604.1:c.2334G>T, XM_047422605.1:c.1299G>A, XM_047422605.1:c.1299G>T

                8.

                rs1485490057 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  9:35401961 (GRCh38)
                  9:35401958 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:35401960:G:A
                  Gene:
                  UNC13B (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1485317137 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    9:35396860 (GRCh38)
                    9:35396857 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:35396859:C:T
                    Gene:
                    UNC13B (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000009.12:g.35396860C>T, NC_000009.11:g.35396857C>T, NG_033014.1:g.239869C>T, NM_006377.6:c.3208C>T, NM_006377.5:c.3208C>T, NM_006377.4:c.3208C>T, NM_006377.3:c.3208C>T, NM_001330653.3:c.3208C>T, NM_001330653.2:c.3208C>T, NM_001330653.1:c.3208C>T, NM_001371189.2:c.11455C>T, NM_001371189.1:c.11455C>T, NM_001371187.2:c.4348C>T, NM_001371187.1:c.4348C>T, NM_001371186.2:c.3205C>T, NM_001371186.1:c.3205C>T, NM_001371188.2:c.2098C>T, NM_001371188.1:c.2098C>T, NM_001387555.1:c.4345C>T, NR_170667.1:n.3512C>T, NM_001387551.1:c.3244C>T, NM_001387553.1:c.3061C>T, NM_001387554.1:c.3058C>T, XM_011517686.3:c.2098C>T, XM_011517686.2:c.2098C>T, XM_011517686.1:c.2098C>T, XM_047422600.1:c.4348C>T, XM_047422601.1:c.4345C>T, XM_047422602.1:c.3133C>T, XM_047422603.1:c.3133C>T, XM_047422604.1:c.3130C>T, XM_047422605.1:c.2095C>T

                    10.

                    rs1484956047 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      9:35399029 (GRCh38)
                      9:35399026 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:35399028:T:C
                      Gene:
                      UNC13B (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0./0 (GnomAD)
                      C=0.000008/2 (GnomAD_exomes)
                      HGVS:
                      NC_000009.12:g.35399029T>C, NC_000009.11:g.35399026T>C, NG_033014.1:g.242038T>C, NM_006377.6:c.3822T>C, NM_006377.5:c.3822T>C, NM_006377.4:c.3822T>C, NM_006377.3:c.3822T>C, NM_001330653.3:c.3822T>C, NM_001330653.2:c.3822T>C, NM_001330653.1:c.3822T>C, NM_001371189.2:c.12069T>C, NM_001371189.1:c.12069T>C, NM_001371187.2:c.4962T>C, NM_001371187.1:c.4962T>C, NM_001371186.2:c.3819T>C, NM_001371186.1:c.3819T>C, NM_001371188.2:c.2712T>C, NM_001371188.1:c.2712T>C, NM_001387555.1:c.4959T>C, NR_170667.1:n.4126T>C, NM_001387551.1:c.3858T>C, NM_001387553.1:c.3675T>C, NM_001387554.1:c.3672T>C, XM_011517686.3:c.2712T>C, XM_011517686.2:c.2712T>C, XM_011517686.1:c.2712T>C, XM_047422600.1:c.4962T>C, XM_047422601.1:c.4959T>C, XM_047422602.1:c.3747T>C, XM_047422603.1:c.3747T>C, XM_047422604.1:c.3744T>C, XM_047422605.1:c.2709T>C

                      11.

                      rs1484413649 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        G>- [Show Flanks]
                        Chromosome:
                        9:35386200 (GRCh38)
                        9:35386197 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:35386199:GG:G
                        Gene:
                        UNC13B (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        GG=0.0002/1 (ALFA)
                        -=0.0002/1 (Estonian)
                        HGVS:
                        NC_000009.12:g.35386201del, NC_000009.11:g.35386198del, NG_033014.1:g.229210del, NM_006377.6:c.2755del, NM_006377.5:c.2755del, NM_006377.4:c.2755del, NM_006377.3:c.2755del, NM_001330653.3:c.2755del, NM_001330653.2:c.2755del, NM_001330653.1:c.2755del, NM_001371189.2:c.11002del, NM_001371189.1:c.11002del, NM_001371187.2:c.3895del, NM_001371187.1:c.3895del, NM_001371186.2:c.2755del, NM_001371186.1:c.2755del, NM_001371188.2:c.1645del, NM_001371188.1:c.1645del, NM_001387555.1:c.3895del, NR_170667.1:n.3059del, NM_001387551.1:c.2791del, NM_001387553.1:c.2608del, NM_001387554.1:c.2608del, XM_011517686.3:c.1645del, XM_011517686.2:c.1645del, XM_011517686.1:c.1645del, XM_047422600.1:c.3895del, XM_047422601.1:c.3895del, XM_047422602.1:c.2680del, XM_047422603.1:c.2680del, XM_047422604.1:c.2680del, XM_047422605.1:c.1645del, NP_006368.3:p.Val919fs, NP_001317582.1:p.Val919fs, NP_001358118.1:p.Val3668fs, NP_001358116.1:p.Val1299fs, NP_001358115.1:p.Val919fs, NP_001358117.1:p.Val549fs, NP_001374484.1:p.Val1299fs, NP_001374480.1:p.Val931fs, NP_001374482.1:p.Val870fs, NP_001374483.1:p.Val870fs, XP_011515988.1:p.Val549fs, XP_047278556.1:p.Val1299fs, XP_047278557.1:p.Val1299fs, XP_047278558.1:p.Val894fs, XP_047278559.1:p.Val894fs, XP_047278560.1:p.Val894fs, XP_047278561.1:p.Val549fs

                        12.

                        rs1484160032 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          9:35403535 (GRCh38)
                          9:35403532 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:35403534:A:T
                          Gene:
                          UNC13B (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000009.12:g.35403535A>T, NC_000009.11:g.35403532A>T, NG_033014.1:g.246544A>T, NM_006377.6:c.4426A>T, NM_006377.5:c.4426A>T, NM_006377.4:c.4426A>T, NM_006377.3:c.4426A>T, NM_001330653.3:c.4483A>T, NM_001330653.2:c.4483A>T, NM_001330653.1:c.4483A>T, NM_001371189.2:c.12673A>T, NM_001371189.1:c.12673A>T, NM_001371187.2:c.5623A>T, NM_001371187.1:c.5623A>T, NM_001371186.2:c.4423A>T, NM_001371186.1:c.4423A>T, NM_001371188.2:c.3316A>T, NM_001371188.1:c.3316A>T, NM_001387555.1:c.5620A>T, NR_170667.1:n.4787A>T, NM_001387551.1:c.4462A>T, NM_001387553.1:c.4279A>T, NM_001387554.1:c.4276A>T, XM_011517686.3:c.3373A>T, XM_011517686.2:c.3373A>T, XM_011517686.1:c.3373A>T, XM_047422600.1:c.5566A>T, XM_047422601.1:c.5563A>T, XM_047422602.1:c.4408A>T, XM_047422603.1:c.4351A>T, XM_047422604.1:c.4348A>T, XM_047422605.1:c.3313A>T, NP_006368.3:p.Arg1476Trp, NP_001317582.1:p.Arg1495Trp, NP_001358118.1:p.Arg4225Trp, NP_001358116.1:p.Arg1875Trp, NP_001358115.1:p.Arg1475Trp, NP_001358117.1:p.Arg1106Trp, NP_001374484.1:p.Arg1874Trp, NP_001374480.1:p.Arg1488Trp, NP_001374482.1:p.Arg1427Trp, NP_001374483.1:p.Arg1426Trp, XP_011515988.1:p.Arg1125Trp, XP_047278556.1:p.Arg1856Trp, XP_047278557.1:p.Arg1855Trp, XP_047278558.1:p.Arg1470Trp, XP_047278559.1:p.Arg1451Trp, XP_047278560.1:p.Arg1450Trp, XP_047278561.1:p.Arg1105Trp

                          13.

                          rs1484139490 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            9:35398245 (GRCh38)
                            9:35398242 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:35398244:G:T
                            Gene:
                            UNC13B (Varview)
                            Functional Consequence:
                            coding_sequence_variant,non_coding_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000009.12:g.35398245G>T, NC_000009.11:g.35398242G>T, NG_033014.1:g.241254G>T, NM_006377.6:c.3542G>T, NM_006377.5:c.3542G>T, NM_006377.4:c.3542G>T, NM_006377.3:c.3542G>T, NM_001330653.3:c.3542G>T, NM_001330653.2:c.3542G>T, NM_001330653.1:c.3542G>T, NM_001371189.2:c.11789G>T, NM_001371189.1:c.11789G>T, NM_001371187.2:c.4682G>T, NM_001371187.1:c.4682G>T, NM_001371186.2:c.3539G>T, NM_001371186.1:c.3539G>T, NM_001371188.2:c.2432G>T, NM_001371188.1:c.2432G>T, NM_001387555.1:c.4679G>T, NR_170667.1:n.3846G>T, NM_001387551.1:c.3578G>T, NM_001387553.1:c.3395G>T, NM_001387554.1:c.3392G>T, XM_011517686.3:c.2432G>T, XM_011517686.2:c.2432G>T, XM_011517686.1:c.2432G>T, XM_047422600.1:c.4682G>T, XM_047422601.1:c.4679G>T, XM_047422602.1:c.3467G>T, XM_047422603.1:c.3467G>T, XM_047422604.1:c.3464G>T, XM_047422605.1:c.2429G>T, NP_006368.3:p.Arg1181Met, NP_001317582.1:p.Arg1181Met, NP_001358118.1:p.Arg3930Met, NP_001358116.1:p.Arg1561Met, NP_001358115.1:p.Arg1180Met, NP_001358117.1:p.Arg811Met, NP_001374484.1:p.Arg1560Met, NP_001374480.1:p.Arg1193Met, NP_001374482.1:p.Arg1132Met, NP_001374483.1:p.Arg1131Met, XP_011515988.1:p.Arg811Met, XP_047278556.1:p.Arg1561Met, XP_047278557.1:p.Arg1560Met, XP_047278558.1:p.Arg1156Met, XP_047278559.1:p.Arg1156Met, XP_047278560.1:p.Arg1155Met, XP_047278561.1:p.Arg810Met

                            14.

                            rs1483614485 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              9:35376102 (GRCh38)
                              9:35376099 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:35376101:G:A,NC_000009.12:35376101:G:C
                              Gene:
                              UNC13B (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,non_coding_transcript_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=0.000007/1 (GnomAD)
                              C=0.000035/1 (TOMMO)
                              HGVS:
                              NC_000009.12:g.35376102G>A, NC_000009.12:g.35376102G>C, NC_000009.11:g.35376099G>A, NC_000009.11:g.35376099G>C, NG_033014.1:g.219111G>A, NG_033014.1:g.219111G>C, NM_006377.6:c.1443G>A, NM_006377.6:c.1443G>C, NM_006377.5:c.1443G>A, NM_006377.5:c.1443G>C, NM_006377.4:c.1443G>A, NM_006377.4:c.1443G>C, NM_006377.3:c.1443G>A, NM_006377.3:c.1443G>C, NM_001330653.3:c.1443G>A, NM_001330653.3:c.1443G>C, NM_001330653.2:c.1443G>A, NM_001330653.2:c.1443G>C, NM_001330653.1:c.1443G>A, NM_001330653.1:c.1443G>C, NM_001371189.2:c.9690G>A, NM_001371189.2:c.9690G>C, NM_001371189.1:c.9690G>A, NM_001371189.1:c.9690G>C, NM_001371187.2:c.2583G>A, NM_001371187.2:c.2583G>C, NM_001371187.1:c.2583G>A, NM_001371187.1:c.2583G>C, NM_001371186.2:c.1443G>A, NM_001371186.2:c.1443G>C, NM_001371186.1:c.1443G>A, NM_001371186.1:c.1443G>C, NM_001371188.2:c.333G>A, NM_001371188.2:c.333G>C, NM_001371188.1:c.333G>A, NM_001371188.1:c.333G>C, NM_001387555.1:c.2583G>A, NM_001387555.1:c.2583G>C, NR_170667.1:n.1747G>A, NR_170667.1:n.1747G>C, NM_001387551.1:c.1479G>A, NM_001387551.1:c.1479G>C, NM_001387553.1:c.1296G>A, NM_001387553.1:c.1296G>C, NM_001387554.1:c.1296G>A, NM_001387554.1:c.1296G>C, XM_011517686.3:c.333G>A, XM_011517686.3:c.333G>C, XM_011517686.2:c.333G>A, XM_011517686.2:c.333G>C, XM_011517686.1:c.333G>A, XM_011517686.1:c.333G>C, XM_047422600.1:c.2583G>A, XM_047422600.1:c.2583G>C, XM_047422601.1:c.2583G>A, XM_047422601.1:c.2583G>C, XM_047422602.1:c.1368G>A, XM_047422602.1:c.1368G>C, XM_047422603.1:c.1368G>A, XM_047422603.1:c.1368G>C, XM_047422604.1:c.1368G>A, XM_047422604.1:c.1368G>C, XM_047422605.1:c.333G>A, XM_047422605.1:c.333G>C, NP_006368.3:p.Glu481Asp, NP_001317582.1:p.Glu481Asp, NP_001358118.1:p.Glu3230Asp, NP_001358116.1:p.Glu861Asp, NP_001358115.1:p.Glu481Asp, NP_001358117.1:p.Glu111Asp, NP_001374484.1:p.Glu861Asp, NP_001374480.1:p.Glu493Asp, NP_001374482.1:p.Glu432Asp, NP_001374483.1:p.Glu432Asp, XP_011515988.1:p.Glu111Asp, XP_047278556.1:p.Glu861Asp, XP_047278557.1:p.Glu861Asp, XP_047278558.1:p.Glu456Asp, XP_047278559.1:p.Glu456Asp, XP_047278560.1:p.Glu456Asp, XP_047278561.1:p.Glu111Asp

                              15.

                              rs1483370145 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                9:35403851 (GRCh38)
                                9:35403848 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:35403850:C:T
                                Gene:
                                UNC13B (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000009.12:g.35403851C>T, NC_000009.11:g.35403848C>T, NG_033014.1:g.246860C>T, NM_006377.6:c.4594C>T, NM_006377.5:c.4594C>T, NM_006377.4:c.4594C>T, NM_006377.3:c.4594C>T, NM_001330653.3:c.4651C>T, NM_001330653.2:c.4651C>T, NM_001330653.1:c.4651C>T, NM_001371189.2:c.12841C>T, NM_001371189.1:c.12841C>T, NM_001371187.2:c.5791C>T, NM_001371187.1:c.5791C>T, NM_001371186.2:c.4591C>T, NM_001371186.1:c.4591C>T, NM_001371188.2:c.3484C>T, NM_001371188.1:c.3484C>T, NM_001387555.1:c.5788C>T, NR_170667.1:n.4955C>T, NM_001387551.1:c.4630C>T, NM_001387553.1:c.4447C>T, NM_001387554.1:c.4444C>T, XM_011517686.3:c.3541C>T, XM_011517686.2:c.3541C>T, XM_011517686.1:c.3541C>T, XM_047422600.1:c.5734C>T, XM_047422601.1:c.5731C>T, XM_047422602.1:c.4576C>T, XM_047422603.1:c.4519C>T, XM_047422604.1:c.4516C>T, XM_047422605.1:c.3481C>T, NP_006368.3:p.Pro1532Ser, NP_001317582.1:p.Pro1551Ser, NP_001358118.1:p.Pro4281Ser, NP_001358116.1:p.Pro1931Ser, NP_001358115.1:p.Pro1531Ser, NP_001358117.1:p.Pro1162Ser, NP_001374484.1:p.Pro1930Ser, NP_001374480.1:p.Pro1544Ser, NP_001374482.1:p.Pro1483Ser, NP_001374483.1:p.Pro1482Ser, XP_011515988.1:p.Pro1181Ser, XP_047278556.1:p.Pro1912Ser, XP_047278557.1:p.Pro1911Ser, XP_047278558.1:p.Pro1526Ser, XP_047278559.1:p.Pro1507Ser, XP_047278560.1:p.Pro1506Ser, XP_047278561.1:p.Pro1161Ser

                                16.

                                rs1481467758 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  9:35403902 (GRCh38)
                                  9:35403899 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:35403901:G:C
                                  Gene:
                                  UNC13B (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000028/1 (ALFA)
                                  C=0.000014/2 (GnomAD)
                                  C=0.000015/4 (TOPMED)
                                  HGVS:
                                  NC_000009.12:g.35403902G>C, NC_000009.11:g.35403899G>C, NG_033014.1:g.246911G>C, NM_006377.6:c.4645G>C, NM_006377.5:c.4645G>C, NM_006377.4:c.4645G>C, NM_006377.3:c.4645G>C, NM_001330653.3:c.4702G>C, NM_001330653.2:c.4702G>C, NM_001330653.1:c.4702G>C, NM_001371189.2:c.12892G>C, NM_001371189.1:c.12892G>C, NM_001371187.2:c.5842G>C, NM_001371187.1:c.5842G>C, NM_001371186.2:c.4642G>C, NM_001371186.1:c.4642G>C, NM_001371188.2:c.3535G>C, NM_001371188.1:c.3535G>C, NM_001387555.1:c.5839G>C, NR_170667.1:n.5006G>C, NM_001387551.1:c.4681G>C, NM_001387553.1:c.4498G>C, NM_001387554.1:c.4495G>C, XM_011517686.3:c.3592G>C, XM_011517686.2:c.3592G>C, XM_011517686.1:c.3592G>C, XM_047422600.1:c.5785G>C, XM_047422601.1:c.5782G>C, XM_047422602.1:c.4627G>C, XM_047422603.1:c.4570G>C, XM_047422604.1:c.4567G>C, XM_047422605.1:c.3532G>C, NP_006368.3:p.Gly1549Arg, NP_001317582.1:p.Gly1568Arg, NP_001358118.1:p.Gly4298Arg, NP_001358116.1:p.Gly1948Arg, NP_001358115.1:p.Gly1548Arg, NP_001358117.1:p.Gly1179Arg, NP_001374484.1:p.Gly1947Arg, NP_001374480.1:p.Gly1561Arg, NP_001374482.1:p.Gly1500Arg, NP_001374483.1:p.Gly1499Arg, XP_011515988.1:p.Gly1198Arg, XP_047278556.1:p.Gly1929Arg, XP_047278557.1:p.Gly1928Arg, XP_047278558.1:p.Gly1543Arg, XP_047278559.1:p.Gly1524Arg, XP_047278560.1:p.Gly1523Arg, XP_047278561.1:p.Gly1178Arg

                                  17.

                                  rs1481049259 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    9:35403561 (GRCh38)
                                    9:35403558 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:35403560:C:G,NC_000009.12:35403560:C:T
                                    Gene:
                                    UNC13B (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000009.12:g.35403561C>G, NC_000009.12:g.35403561C>T, NC_000009.11:g.35403558C>G, NC_000009.11:g.35403558C>T, NG_033014.1:g.246570C>G, NG_033014.1:g.246570C>T, NM_006377.6:c.4452C>G, NM_006377.6:c.4452C>T, NM_006377.5:c.4452C>G, NM_006377.5:c.4452C>T, NM_006377.4:c.4452C>G, NM_006377.4:c.4452C>T, NM_006377.3:c.4452C>G, NM_006377.3:c.4452C>T, NM_001330653.3:c.4509C>G, NM_001330653.3:c.4509C>T, NM_001330653.2:c.4509C>G, NM_001330653.2:c.4509C>T, NM_001330653.1:c.4509C>G, NM_001330653.1:c.4509C>T, NM_001371189.2:c.12699C>G, NM_001371189.2:c.12699C>T, NM_001371189.1:c.12699C>G, NM_001371189.1:c.12699C>T, NM_001371187.2:c.5649C>G, NM_001371187.2:c.5649C>T, NM_001371187.1:c.5649C>G, NM_001371187.1:c.5649C>T, NM_001371186.2:c.4449C>G, NM_001371186.2:c.4449C>T, NM_001371186.1:c.4449C>G, NM_001371186.1:c.4449C>T, NM_001371188.2:c.3342C>G, NM_001371188.2:c.3342C>T, NM_001371188.1:c.3342C>G, NM_001371188.1:c.3342C>T, NM_001387555.1:c.5646C>G, NM_001387555.1:c.5646C>T, NR_170667.1:n.4813C>G, NR_170667.1:n.4813C>T, NM_001387551.1:c.4488C>G, NM_001387551.1:c.4488C>T, NM_001387553.1:c.4305C>G, NM_001387553.1:c.4305C>T, NM_001387554.1:c.4302C>G, NM_001387554.1:c.4302C>T, XM_011517686.3:c.3399C>G, XM_011517686.3:c.3399C>T, XM_011517686.2:c.3399C>G, XM_011517686.2:c.3399C>T, XM_011517686.1:c.3399C>G, XM_011517686.1:c.3399C>T, XM_047422600.1:c.5592C>G, XM_047422600.1:c.5592C>T, XM_047422601.1:c.5589C>G, XM_047422601.1:c.5589C>T, XM_047422602.1:c.4434C>G, XM_047422602.1:c.4434C>T, XM_047422603.1:c.4377C>G, XM_047422603.1:c.4377C>T, XM_047422604.1:c.4374C>G, XM_047422604.1:c.4374C>T, XM_047422605.1:c.3339C>G, XM_047422605.1:c.3339C>T, NP_006368.3:p.Ser1484Arg, NP_001317582.1:p.Ser1503Arg, NP_001358118.1:p.Ser4233Arg, NP_001358116.1:p.Ser1883Arg, NP_001358115.1:p.Ser1483Arg, NP_001358117.1:p.Ser1114Arg, NP_001374484.1:p.Ser1882Arg, NP_001374480.1:p.Ser1496Arg, NP_001374482.1:p.Ser1435Arg, NP_001374483.1:p.Ser1434Arg, XP_011515988.1:p.Ser1133Arg, XP_047278556.1:p.Ser1864Arg, XP_047278557.1:p.Ser1863Arg, XP_047278558.1:p.Ser1478Arg, XP_047278559.1:p.Ser1459Arg, XP_047278560.1:p.Ser1458Arg, XP_047278561.1:p.Ser1113Arg

                                    18.

                                    rs1480259067 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      9:35377623 (GRCh38)
                                      9:35377620 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:35377622:C:T
                                      Gene:
                                      UNC13B (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,stop_gained,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000015/4 (TOPMED)
                                      HGVS:
                                      NC_000009.12:g.35377623C>T, NC_000009.11:g.35377620C>T, NG_033014.1:g.220632C>T, NM_006377.6:c.1744C>T, NM_006377.5:c.1744C>T, NM_006377.4:c.1744C>T, NM_006377.3:c.1744C>T, NM_001330653.3:c.1744C>T, NM_001330653.2:c.1744C>T, NM_001330653.1:c.1744C>T, NM_001371189.2:c.9991C>T, NM_001371189.1:c.9991C>T, NM_001371187.2:c.2884C>T, NM_001371187.1:c.2884C>T, NM_001371186.2:c.1744C>T, NM_001371186.1:c.1744C>T, NM_001371188.2:c.634C>T, NM_001371188.1:c.634C>T, NM_001387555.1:c.2884C>T, NR_170667.1:n.2048C>T, NM_001387551.1:c.1780C>T, NM_001387553.1:c.1597C>T, NM_001387554.1:c.1597C>T, XM_011517686.3:c.634C>T, XM_011517686.2:c.634C>T, XM_011517686.1:c.634C>T, XM_047422600.1:c.2884C>T, XM_047422601.1:c.2884C>T, XM_047422602.1:c.1669C>T, XM_047422603.1:c.1669C>T, XM_047422604.1:c.1669C>T, XM_047422605.1:c.634C>T, NP_006368.3:p.Gln582Ter, NP_001317582.1:p.Gln582Ter, NP_001358118.1:p.Gln3331Ter, NP_001358116.1:p.Gln962Ter, NP_001358115.1:p.Gln582Ter, NP_001358117.1:p.Gln212Ter, NP_001374484.1:p.Gln962Ter, NP_001374480.1:p.Gln594Ter, NP_001374482.1:p.Gln533Ter, NP_001374483.1:p.Gln533Ter, XP_011515988.1:p.Gln212Ter, XP_047278556.1:p.Gln962Ter, XP_047278557.1:p.Gln962Ter, XP_047278558.1:p.Gln557Ter, XP_047278559.1:p.Gln557Ter, XP_047278560.1:p.Gln557Ter, XP_047278561.1:p.Gln212Ter

                                      19.

                                      rs1477882519 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        9:35398222 (GRCh38)
                                        9:35398219 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:35398221:G:A,NC_000009.12:35398221:G:C
                                        Gene:
                                        UNC13B (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                        HGVS:
                                        NC_000009.12:g.35398222G>A, NC_000009.12:g.35398222G>C, NC_000009.11:g.35398219G>A, NC_000009.11:g.35398219G>C, NG_033014.1:g.241231G>A, NG_033014.1:g.241231G>C, NM_006377.6:c.3519G>A, NM_006377.6:c.3519G>C, NM_006377.5:c.3519G>A, NM_006377.5:c.3519G>C, NM_006377.4:c.3519G>A, NM_006377.4:c.3519G>C, NM_006377.3:c.3519G>A, NM_006377.3:c.3519G>C, NM_001330653.3:c.3519G>A, NM_001330653.3:c.3519G>C, NM_001330653.2:c.3519G>A, NM_001330653.2:c.3519G>C, NM_001330653.1:c.3519G>A, NM_001330653.1:c.3519G>C, NM_001371189.2:c.11766G>A, NM_001371189.2:c.11766G>C, NM_001371189.1:c.11766G>A, NM_001371189.1:c.11766G>C, NM_001371187.2:c.4659G>A, NM_001371187.2:c.4659G>C, NM_001371187.1:c.4659G>A, NM_001371187.1:c.4659G>C, NM_001371186.2:c.3516G>A, NM_001371186.2:c.3516G>C, NM_001371186.1:c.3516G>A, NM_001371186.1:c.3516G>C, NM_001371188.2:c.2409G>A, NM_001371188.2:c.2409G>C, NM_001371188.1:c.2409G>A, NM_001371188.1:c.2409G>C, NM_001387555.1:c.4656G>A, NM_001387555.1:c.4656G>C, NR_170667.1:n.3823G>A, NR_170667.1:n.3823G>C, NM_001387551.1:c.3555G>A, NM_001387551.1:c.3555G>C, NM_001387553.1:c.3372G>A, NM_001387553.1:c.3372G>C, NM_001387554.1:c.3369G>A, NM_001387554.1:c.3369G>C, XM_011517686.3:c.2409G>A, XM_011517686.3:c.2409G>C, XM_011517686.2:c.2409G>A, XM_011517686.2:c.2409G>C, XM_011517686.1:c.2409G>A, XM_011517686.1:c.2409G>C, XM_047422600.1:c.4659G>A, XM_047422600.1:c.4659G>C, XM_047422601.1:c.4656G>A, XM_047422601.1:c.4656G>C, XM_047422602.1:c.3444G>A, XM_047422602.1:c.3444G>C, XM_047422603.1:c.3444G>A, XM_047422603.1:c.3444G>C, XM_047422604.1:c.3441G>A, XM_047422604.1:c.3441G>C, XM_047422605.1:c.2406G>A, XM_047422605.1:c.2406G>C

                                        20.

                                        rs1475070503 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          9:35381605 (GRCh38)
                                          9:35381602 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:35381604:T:A
                                          Gene:
                                          UNC13B (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000014/2 (GnomAD)
                                          A=0.000015/4 (TOPMED)
                                          HGVS:
                                          NC_000009.12:g.35381605T>A, NC_000009.11:g.35381602T>A, NG_033014.1:g.224614T>A, NM_006377.6:c.2294T>A, NM_006377.5:c.2294T>A, NM_006377.4:c.2294T>A, NM_006377.3:c.2294T>A, NM_001330653.3:c.2294T>A, NM_001330653.2:c.2294T>A, NM_001330653.1:c.2294T>A, NM_001371189.2:c.10541T>A, NM_001371189.1:c.10541T>A, NM_001371187.2:c.3434T>A, NM_001371187.1:c.3434T>A, NM_001371186.2:c.2294T>A, NM_001371186.1:c.2294T>A, NM_001371188.2:c.1184T>A, NM_001371188.1:c.1184T>A, NM_001387555.1:c.3434T>A, NR_170667.1:n.2598T>A, NM_001387551.1:c.2330T>A, NM_001387553.1:c.2147T>A, NM_001387554.1:c.2147T>A, XM_011517686.3:c.1184T>A, XM_011517686.2:c.1184T>A, XM_011517686.1:c.1184T>A, XM_047422600.1:c.3434T>A, XM_047422601.1:c.3434T>A, XM_047422602.1:c.2219T>A, XM_047422603.1:c.2219T>A, XM_047422604.1:c.2219T>A, XM_047422605.1:c.1184T>A, NP_006368.3:p.Ile765Asn, NP_001317582.1:p.Ile765Asn, NP_001358118.1:p.Ile3514Asn, NP_001358116.1:p.Ile1145Asn, NP_001358115.1:p.Ile765Asn, NP_001358117.1:p.Ile395Asn, NP_001374484.1:p.Ile1145Asn, NP_001374480.1:p.Ile777Asn, NP_001374482.1:p.Ile716Asn, NP_001374483.1:p.Ile716Asn, XP_011515988.1:p.Ile395Asn, XP_047278556.1:p.Ile1145Asn, XP_047278557.1:p.Ile1145Asn, XP_047278558.1:p.Ile740Asn, XP_047278559.1:p.Ile740Asn, XP_047278560.1:p.Ile740Asn, XP_047278561.1:p.Ile395Asn

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