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Items: 1 to 20 of 585

1.

rs1490699900 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    3:121255008 (GRCh38)
    3:120973855 (GRCh37)
    Canonical SPDI:
    NC_000003.12:121255007:A:G
    Gene:
    STXBP5L (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.000224/1 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000223/1 (Estonian)
    HGVS:
    NC_000003.12:g.121255008A>G, NC_000003.11:g.120973855A>G, NG_052890.1:g.351806A>G, NM_014980.3:c.1555A>G, NM_014980.2:c.1555A>G, NM_001348345.2:c.1555A>G, NM_001348345.1:c.1555A>G, NR_145516.2:n.1821A>G, NR_145516.1:n.1823A>G, NM_001348343.2:c.1555A>G, NM_001348343.1:c.1555A>G, NM_001308330.2:c.1555A>G, NM_001308330.1:c.1555A>G, NM_001348344.2:c.1555A>G, NM_001348344.1:c.1555A>G, XM_006713825.4:c.1555A>G, XM_006713825.3:c.1555A>G, XM_006713825.2:c.1555A>G, XM_006713825.1:c.1555A>G, XM_011513333.4:c.1555A>G, XM_011513333.3:c.1555A>G, XM_011513333.2:c.1555A>G, XM_011513333.1:c.1555A>G, XM_011513331.3:c.1555A>G, XM_011513331.2:c.1555A>G, XM_011513331.1:c.1555A>G, XM_017007535.3:c.1555A>G, XM_017007535.2:c.1555A>G, XM_017007535.1:c.1555A>G, XR_924217.3:n.1693A>G, XR_924217.2:n.1692A>G, XR_924217.1:n.1692A>G, XM_011513332.2:c.103A>G, XM_011513332.1:c.103A>G, XM_017007534.2:c.1555A>G, XM_017007534.1:c.1555A>G, XR_001740373.2:n.1693A>G, XR_001740373.1:n.1692A>G, XM_047449249.1:c.994A>G, NP_055795.1:p.Met519Val, NP_001335274.1:p.Met519Val, NP_001335272.1:p.Met519Val, NP_001295259.1:p.Met519Val, NP_001335273.1:p.Met519Val, XP_006713888.1:p.Met519Val, XP_011511635.1:p.Met519Val, XP_011511633.1:p.Met519Val, XP_016863024.1:p.Met519Val, XP_011511634.1:p.Met35Val, XP_016863023.1:p.Met519Val, XP_047305205.1:p.Met332Val

    2.

    rs1488635529 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      3:121306281 (GRCh38)
      3:121025128 (GRCh37)
      Canonical SPDI:
      NC_000003.12:121306280:T:C
      Gene:
      STXBP5L (Varview)
      Functional Consequence:
      coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0.0002/1 (ALFA)
      C=0.0002/1 (Estonian)
      HGVS:

      3.

      rs1483482099 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        3:121240452 (GRCh38)
        3:120959299 (GRCh37)
        Canonical SPDI:
        NC_000003.12:121240451:A:C
        Gene:
        STXBP5L (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000003.12:g.121240452A>C, NC_000003.11:g.120959299A>C, NG_052890.1:g.337250A>C, NM_014980.3:c.1345A>C, NM_014980.2:c.1345A>C, NM_001348345.2:c.1345A>C, NM_001348345.1:c.1345A>C, NR_145516.2:n.1611A>C, NR_145516.1:n.1613A>C, NM_001348343.2:c.1345A>C, NM_001348343.1:c.1345A>C, NM_001308330.2:c.1345A>C, NM_001308330.1:c.1345A>C, NM_001348344.2:c.1345A>C, NM_001348344.1:c.1345A>C, XM_006713825.4:c.1345A>C, XM_006713825.3:c.1345A>C, XM_006713825.2:c.1345A>C, XM_006713825.1:c.1345A>C, XM_011513333.4:c.1345A>C, XM_011513333.3:c.1345A>C, XM_011513333.2:c.1345A>C, XM_011513333.1:c.1345A>C, XM_011513331.3:c.1345A>C, XM_011513331.2:c.1345A>C, XM_011513331.1:c.1345A>C, XM_017007535.3:c.1345A>C, XM_017007535.2:c.1345A>C, XM_017007535.1:c.1345A>C, XR_924217.3:n.1483A>C, XR_924217.2:n.1482A>C, XR_924217.1:n.1482A>C, XM_011513332.2:c.-67A>C, XM_017007534.2:c.1345A>C, XM_017007534.1:c.1345A>C, XR_001740373.2:n.1483A>C, XR_001740373.1:n.1482A>C, XM_047449249.1:c.784A>C, NP_055795.1:p.Ser449Arg, NP_001335274.1:p.Ser449Arg, NP_001335272.1:p.Ser449Arg, NP_001295259.1:p.Ser449Arg, NP_001335273.1:p.Ser449Arg, XP_006713888.1:p.Ser449Arg, XP_011511635.1:p.Ser449Arg, XP_011511633.1:p.Ser449Arg, XP_016863024.1:p.Ser449Arg, XP_016863023.1:p.Ser449Arg, XP_047305205.1:p.Ser262Arg

        4.

        rs1483346314 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C,G [Show Flanks]
          Chromosome:
          3:121152517 (GRCh38)
          3:120871364 (GRCh37)
          Canonical SPDI:
          NC_000003.12:121152516:A:C,NC_000003.12:121152516:A:G
          Gene:
          STXBP5L (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000003.12:g.121152517A>C, NC_000003.12:g.121152517A>G, NC_000003.11:g.120871364A>C, NC_000003.11:g.120871364A>G, NG_052890.1:g.249315A>C, NG_052890.1:g.249315A>G, NM_014980.3:c.710A>C, NM_014980.3:c.710A>G, NM_014980.2:c.710A>C, NM_014980.2:c.710A>G, NM_001348345.2:c.710A>C, NM_001348345.2:c.710A>G, NM_001348345.1:c.710A>C, NM_001348345.1:c.710A>G, NR_145516.2:n.848A>C, NR_145516.2:n.848A>G, NR_145516.1:n.850A>C, NR_145516.1:n.850A>G, NM_001348343.2:c.710A>C, NM_001348343.2:c.710A>G, NM_001348343.1:c.710A>C, NM_001348343.1:c.710A>G, NM_001308330.2:c.710A>C, NM_001308330.2:c.710A>G, NM_001308330.1:c.710A>C, NM_001308330.1:c.710A>G, NM_001348344.2:c.710A>C, NM_001348344.2:c.710A>G, NM_001348344.1:c.710A>C, NM_001348344.1:c.710A>G, NR_145517.2:n.844A>C, NR_145517.2:n.844A>G, NR_145517.1:n.846A>C, NR_145517.1:n.846A>G, XM_006713825.4:c.710A>C, XM_006713825.4:c.710A>G, XM_006713825.3:c.710A>C, XM_006713825.3:c.710A>G, XM_006713825.2:c.710A>C, XM_006713825.2:c.710A>G, XM_006713825.1:c.710A>C, XM_006713825.1:c.710A>G, XM_011513333.4:c.710A>C, XM_011513333.4:c.710A>G, XM_011513333.3:c.710A>C, XM_011513333.3:c.710A>G, XM_011513333.2:c.710A>C, XM_011513333.2:c.710A>G, XM_011513333.1:c.710A>C, XM_011513333.1:c.710A>G, XM_011513331.3:c.710A>C, XM_011513331.3:c.710A>G, XM_011513331.2:c.710A>C, XM_011513331.2:c.710A>G, XM_011513331.1:c.710A>C, XM_011513331.1:c.710A>G, XM_017007535.3:c.710A>C, XM_017007535.3:c.710A>G, XM_017007535.2:c.710A>C, XM_017007535.2:c.710A>G, XM_017007535.1:c.710A>C, XM_017007535.1:c.710A>G, XR_924217.3:n.848A>C, XR_924217.3:n.848A>G, XR_924217.2:n.847A>C, XR_924217.2:n.847A>G, XR_924217.1:n.847A>C, XR_924217.1:n.847A>G, XM_017007534.2:c.710A>C, XM_017007534.2:c.710A>G, XM_017007534.1:c.710A>C, XM_017007534.1:c.710A>G, XR_001740373.2:n.848A>C, XR_001740373.2:n.848A>G, XR_001740373.1:n.847A>C, XR_001740373.1:n.847A>G, XM_047449249.1:c.149A>C, XM_047449249.1:c.149A>G, NP_055795.1:p.Asp237Ala, NP_055795.1:p.Asp237Gly, NP_001335274.1:p.Asp237Ala, NP_001335274.1:p.Asp237Gly, NP_001335272.1:p.Asp237Ala, NP_001335272.1:p.Asp237Gly, NP_001295259.1:p.Asp237Ala, NP_001295259.1:p.Asp237Gly, NP_001335273.1:p.Asp237Ala, NP_001335273.1:p.Asp237Gly, XP_006713888.1:p.Asp237Ala, XP_006713888.1:p.Asp237Gly, XP_011511635.1:p.Asp237Ala, XP_011511635.1:p.Asp237Gly, XP_011511633.1:p.Asp237Ala, XP_011511633.1:p.Asp237Gly, XP_016863024.1:p.Asp237Ala, XP_016863024.1:p.Asp237Gly, XP_016863023.1:p.Asp237Ala, XP_016863023.1:p.Asp237Gly, XP_047305205.1:p.Asp50Ala, XP_047305205.1:p.Asp50Gly

          5.

          rs1481847649 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            3:121255096 (GRCh38)
            3:120973943 (GRCh37)
            Canonical SPDI:
            NC_000003.12:121255095:T:C
            Gene:
            STXBP5L (Varview)
            Functional Consequence:
            missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.121255096T>C, NC_000003.11:g.120973943T>C, NG_052890.1:g.351894T>C, NM_014980.3:c.1643T>C, NM_014980.2:c.1643T>C, NM_001348345.2:c.1643T>C, NM_001348345.1:c.1643T>C, NR_145516.2:n.1909T>C, NR_145516.1:n.1911T>C, NM_001348343.2:c.1643T>C, NM_001348343.1:c.1643T>C, NM_001308330.2:c.1643T>C, NM_001308330.1:c.1643T>C, NM_001348344.2:c.1643T>C, NM_001348344.1:c.1643T>C, XM_006713825.4:c.1643T>C, XM_006713825.3:c.1643T>C, XM_006713825.2:c.1643T>C, XM_006713825.1:c.1643T>C, XM_011513333.4:c.1643T>C, XM_011513333.3:c.1643T>C, XM_011513333.2:c.1643T>C, XM_011513333.1:c.1643T>C, XM_011513331.3:c.1643T>C, XM_011513331.2:c.1643T>C, XM_011513331.1:c.1643T>C, XM_017007535.3:c.1643T>C, XM_017007535.2:c.1643T>C, XM_017007535.1:c.1643T>C, XR_924217.3:n.1781T>C, XR_924217.2:n.1780T>C, XR_924217.1:n.1780T>C, XM_011513332.2:c.191T>C, XM_011513332.1:c.191T>C, XM_017007534.2:c.1643T>C, XM_017007534.1:c.1643T>C, XR_001740373.2:n.1781T>C, XR_001740373.1:n.1780T>C, XM_047449249.1:c.1082T>C, NP_055795.1:p.Ile548Thr, NP_001335274.1:p.Ile548Thr, NP_001335272.1:p.Ile548Thr, NP_001295259.1:p.Ile548Thr, NP_001335273.1:p.Ile548Thr, XP_006713888.1:p.Ile548Thr, XP_011511635.1:p.Ile548Thr, XP_011511633.1:p.Ile548Thr, XP_016863024.1:p.Ile548Thr, XP_011511634.1:p.Ile64Thr, XP_016863023.1:p.Ile548Thr, XP_047305205.1:p.Ile361Thr

            6.

            rs1481840692 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              3:121041746 (GRCh38)
              3:120760593 (GRCh37)
              Canonical SPDI:
              NC_000003.12:121041745:G:A,NC_000003.12:121041745:G:T
              Gene:
              STXBP5L (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000003.12:g.121041746G>A, NC_000003.12:g.121041746G>T, NC_000003.11:g.120760593G>A, NC_000003.11:g.120760593G>T, NG_052890.1:g.138544G>A, NG_052890.1:g.138544G>T, NM_014980.3:c.334G>A, NM_014980.3:c.334G>T, NM_014980.2:c.334G>A, NM_014980.2:c.334G>T, NM_001348345.2:c.334G>A, NM_001348345.2:c.334G>T, NM_001348345.1:c.334G>A, NM_001348345.1:c.334G>T, NR_145516.2:n.472G>A, NR_145516.2:n.472G>T, NR_145516.1:n.474G>A, NR_145516.1:n.474G>T, NM_001348343.2:c.334G>A, NM_001348343.2:c.334G>T, NM_001348343.1:c.334G>A, NM_001348343.1:c.334G>T, NM_001308330.2:c.334G>A, NM_001308330.2:c.334G>T, NM_001308330.1:c.334G>A, NM_001308330.1:c.334G>T, NM_001348344.2:c.334G>A, NM_001348344.2:c.334G>T, NM_001348344.1:c.334G>A, NM_001348344.1:c.334G>T, NR_145517.2:n.468G>A, NR_145517.2:n.468G>T, NR_145517.1:n.470G>A, NR_145517.1:n.470G>T, XM_006713825.4:c.334G>A, XM_006713825.4:c.334G>T, XM_006713825.3:c.334G>A, XM_006713825.3:c.334G>T, XM_006713825.2:c.334G>A, XM_006713825.2:c.334G>T, XM_006713825.1:c.334G>A, XM_006713825.1:c.334G>T, XM_011513333.4:c.334G>A, XM_011513333.4:c.334G>T, XM_011513333.3:c.334G>A, XM_011513333.3:c.334G>T, XM_011513333.2:c.334G>A, XM_011513333.2:c.334G>T, XM_011513333.1:c.334G>A, XM_011513333.1:c.334G>T, XM_011513331.3:c.334G>A, XM_011513331.3:c.334G>T, XM_011513331.2:c.334G>A, XM_011513331.2:c.334G>T, XM_011513331.1:c.334G>A, XM_011513331.1:c.334G>T, XM_017007535.3:c.334G>A, XM_017007535.3:c.334G>T, XM_017007535.2:c.334G>A, XM_017007535.2:c.334G>T, XM_017007535.1:c.334G>A, XM_017007535.1:c.334G>T, XR_924217.3:n.472G>A, XR_924217.3:n.472G>T, XR_924217.2:n.471G>A, XR_924217.2:n.471G>T, XR_924217.1:n.471G>A, XR_924217.1:n.471G>T, XM_017007534.2:c.334G>A, XM_017007534.2:c.334G>T, XM_017007534.1:c.334G>A, XM_017007534.1:c.334G>T, XR_001740373.2:n.472G>A, XR_001740373.2:n.472G>T, XR_001740373.1:n.471G>A, XR_001740373.1:n.471G>T, NP_055795.1:p.Ala112Thr, NP_055795.1:p.Ala112Ser, NP_001335274.1:p.Ala112Thr, NP_001335274.1:p.Ala112Ser, NP_001335272.1:p.Ala112Thr, NP_001335272.1:p.Ala112Ser, NP_001295259.1:p.Ala112Thr, NP_001295259.1:p.Ala112Ser, NP_001335273.1:p.Ala112Thr, NP_001335273.1:p.Ala112Ser, XP_006713888.1:p.Ala112Thr, XP_006713888.1:p.Ala112Ser, XP_011511635.1:p.Ala112Thr, XP_011511635.1:p.Ala112Ser, XP_011511633.1:p.Ala112Thr, XP_011511633.1:p.Ala112Ser, XP_016863024.1:p.Ala112Thr, XP_016863024.1:p.Ala112Ser, XP_016863023.1:p.Ala112Thr, XP_016863023.1:p.Ala112Ser

              7.

              rs1481296948 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                3:121259048 (GRCh38)
                3:120977895 (GRCh37)
                Canonical SPDI:
                NC_000003.12:121259047:A:C
                Gene:
                STXBP5L (Varview)
                Functional Consequence:
                missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000011/3 (TOPMED)
                HGVS:
                NC_000003.12:g.121259048A>C, NC_000003.11:g.120977895A>C, NG_052890.1:g.355846A>C, NM_014980.3:c.1838A>C, NM_014980.2:c.1838A>C, NM_001348345.2:c.1838A>C, NM_001348345.1:c.1838A>C, NR_145516.2:n.2104A>C, NR_145516.1:n.2106A>C, NM_001348343.2:c.1838A>C, NM_001348343.1:c.1838A>C, NM_001308330.2:c.1838A>C, NM_001308330.1:c.1838A>C, NM_001348344.2:c.1838A>C, NM_001348344.1:c.1838A>C, XM_006713825.4:c.1838A>C, XM_006713825.3:c.1838A>C, XM_006713825.2:c.1838A>C, XM_006713825.1:c.1838A>C, XM_011513333.4:c.1838A>C, XM_011513333.3:c.1838A>C, XM_011513333.2:c.1838A>C, XM_011513333.1:c.1838A>C, XM_011513331.3:c.1838A>C, XM_011513331.2:c.1838A>C, XM_011513331.1:c.1838A>C, XM_017007535.3:c.1838A>C, XM_017007535.2:c.1838A>C, XM_017007535.1:c.1838A>C, XR_924217.3:n.1976A>C, XR_924217.2:n.1975A>C, XR_924217.1:n.1975A>C, XM_011513332.2:c.386A>C, XM_011513332.1:c.386A>C, XM_017007534.2:c.1838A>C, XM_017007534.1:c.1838A>C, XR_001740373.2:n.1976A>C, XR_001740373.1:n.1975A>C, XM_047449249.1:c.1277A>C, NP_055795.1:p.Lys613Thr, NP_001335274.1:p.Lys613Thr, NP_001335272.1:p.Lys613Thr, NP_001295259.1:p.Lys613Thr, NP_001335273.1:p.Lys613Thr, XP_006713888.1:p.Lys613Thr, XP_011511635.1:p.Lys613Thr, XP_011511633.1:p.Lys613Thr, XP_016863024.1:p.Lys613Thr, XP_011511634.1:p.Lys129Thr, XP_016863023.1:p.Lys613Thr, XP_047305205.1:p.Lys426Thr

                8.

                rs1480257449 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  3:121279903 (GRCh38)
                  3:120998750 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:121279902:A:C
                  Gene:
                  STXBP5L (Varview)
                  Functional Consequence:
                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000003.12:g.121279903A>C, NC_000003.11:g.120998750A>C, NG_052890.1:g.376701A>C, NM_014980.3:c.2057A>C, NM_014980.2:c.2057A>C, NM_001348345.2:c.2057A>C, NM_001348345.1:c.2057A>C, NR_145516.2:n.2323A>C, NR_145516.1:n.2325A>C, NM_001348343.2:c.2057A>C, NM_001348343.1:c.2057A>C, NM_001308330.2:c.2057A>C, NM_001308330.1:c.2057A>C, NM_001348344.2:c.2057A>C, NM_001348344.1:c.2057A>C, XM_006713825.4:c.2057A>C, XM_006713825.3:c.2057A>C, XM_006713825.2:c.2057A>C, XM_006713825.1:c.2057A>C, XM_011513331.3:c.2057A>C, XM_011513331.2:c.2057A>C, XM_011513331.1:c.2057A>C, XR_924217.3:n.2195A>C, XR_924217.2:n.2194A>C, XR_924217.1:n.2194A>C, XM_011513332.2:c.605A>C, XM_011513332.1:c.605A>C, XM_017007534.2:c.2057A>C, XM_017007534.1:c.2057A>C, XR_001740373.2:n.2195A>C, XR_001740373.1:n.2194A>C, XM_047449249.1:c.1496A>C, NP_055795.1:p.Asp686Ala, NP_001335274.1:p.Asp686Ala, NP_001335272.1:p.Asp686Ala, NP_001295259.1:p.Asp686Ala, NP_001335273.1:p.Asp686Ala, XP_006713888.1:p.Asp686Ala, XP_011511633.1:p.Asp686Ala, XP_011511634.1:p.Asp202Ala, XP_016863023.1:p.Asp686Ala, XP_047305205.1:p.Asp499Ala

                  9.

                  rs1477863733 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    3:120954992 (GRCh38)
                    3:120673839 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:120954991:T:A
                    Gene:
                    STXBP5L (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000003.12:g.120954992T>A, NC_000003.11:g.120673839T>A, NG_052890.1:g.51790T>A, NM_014980.3:c.242T>A, NM_014980.2:c.242T>A, NM_001348345.2:c.242T>A, NM_001348345.1:c.242T>A, NR_145516.2:n.380T>A, NR_145516.1:n.382T>A, NM_001348343.2:c.242T>A, NM_001348343.1:c.242T>A, NM_001308330.2:c.242T>A, NM_001308330.1:c.242T>A, NM_001348344.2:c.242T>A, NM_001348344.1:c.242T>A, NR_145517.2:n.376T>A, NR_145517.1:n.378T>A, XM_006713825.4:c.242T>A, XM_006713825.3:c.242T>A, XM_006713825.2:c.242T>A, XM_006713825.1:c.242T>A, XM_011513333.4:c.242T>A, XM_011513333.3:c.242T>A, XM_011513333.2:c.242T>A, XM_011513333.1:c.242T>A, XM_011513331.3:c.242T>A, XM_011513331.2:c.242T>A, XM_011513331.1:c.242T>A, XM_017007535.3:c.242T>A, XM_017007535.2:c.242T>A, XM_017007535.1:c.242T>A, XR_924217.3:n.380T>A, XR_924217.2:n.379T>A, XR_924217.1:n.379T>A, XM_017007534.2:c.242T>A, XM_017007534.1:c.242T>A, XR_001740373.2:n.380T>A, XR_001740373.1:n.379T>A, NP_055795.1:p.Val81Asp, NP_001335274.1:p.Val81Asp, NP_001335272.1:p.Val81Asp, NP_001295259.1:p.Val81Asp, NP_001335273.1:p.Val81Asp, XP_006713888.1:p.Val81Asp, XP_011511635.1:p.Val81Asp, XP_011511633.1:p.Val81Asp, XP_016863024.1:p.Val81Asp, XP_016863023.1:p.Val81Asp

                    10.

                    rs1474697006 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      3:121223147 (GRCh38)
                      3:120941994 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:121223146:C:G,NC_000003.12:121223146:C:T
                      Gene:
                      STXBP5L (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0.000047/1 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000003.12:g.121223147C>G, NC_000003.12:g.121223147C>T, NC_000003.11:g.120941994C>G, NC_000003.11:g.120941994C>T, NG_052890.1:g.319945C>G, NG_052890.1:g.319945C>T, NM_014980.3:c.1101C>G, NM_014980.3:c.1101C>T, NM_014980.2:c.1101C>G, NM_014980.2:c.1101C>T, NM_001348345.2:c.1101C>G, NM_001348345.2:c.1101C>T, NM_001348345.1:c.1101C>G, NM_001348345.1:c.1101C>T, NR_145516.2:n.1239C>G, NR_145516.2:n.1239C>T, NR_145516.1:n.1241C>G, NR_145516.1:n.1241C>T, NM_001348343.2:c.1101C>G, NM_001348343.2:c.1101C>T, NM_001348343.1:c.1101C>G, NM_001348343.1:c.1101C>T, NM_001308330.2:c.1101C>G, NM_001308330.2:c.1101C>T, NM_001308330.1:c.1101C>G, NM_001308330.1:c.1101C>T, NM_001348344.2:c.1101C>G, NM_001348344.2:c.1101C>T, NM_001348344.1:c.1101C>G, NM_001348344.1:c.1101C>T, XM_006713825.4:c.1101C>G, XM_006713825.4:c.1101C>T, XM_006713825.3:c.1101C>G, XM_006713825.3:c.1101C>T, XM_006713825.2:c.1101C>G, XM_006713825.2:c.1101C>T, XM_006713825.1:c.1101C>G, XM_006713825.1:c.1101C>T, XM_011513333.4:c.1101C>G, XM_011513333.4:c.1101C>T, XM_011513333.3:c.1101C>G, XM_011513333.3:c.1101C>T, XM_011513333.2:c.1101C>G, XM_011513333.2:c.1101C>T, XM_011513333.1:c.1101C>G, XM_011513333.1:c.1101C>T, XM_011513331.3:c.1101C>G, XM_011513331.3:c.1101C>T, XM_011513331.2:c.1101C>G, XM_011513331.2:c.1101C>T, XM_011513331.1:c.1101C>G, XM_011513331.1:c.1101C>T, XM_017007535.3:c.1101C>G, XM_017007535.3:c.1101C>T, XM_017007535.2:c.1101C>G, XM_017007535.2:c.1101C>T, XM_017007535.1:c.1101C>G, XM_017007535.1:c.1101C>T, XR_924217.3:n.1239C>G, XR_924217.3:n.1239C>T, XR_924217.2:n.1238C>G, XR_924217.2:n.1238C>T, XR_924217.1:n.1238C>G, XR_924217.1:n.1238C>T, XM_017007534.2:c.1101C>G, XM_017007534.2:c.1101C>T, XM_017007534.1:c.1101C>G, XM_017007534.1:c.1101C>T, XR_001740373.2:n.1239C>G, XR_001740373.2:n.1239C>T, XR_001740373.1:n.1238C>G, XR_001740373.1:n.1238C>T, XM_047449249.1:c.540C>G, XM_047449249.1:c.540C>T

                      11.

                      rs1473020440 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,G [Show Flanks]
                        Chromosome:
                        3:121157585 (GRCh38)
                        3:120876432 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:121157584:C:A,NC_000003.12:121157584:C:G
                        Gene:
                        STXBP5L (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        G=0.000008/2 (TOPMED)
                        G=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000003.12:g.121157585C>A, NC_000003.12:g.121157585C>G, NC_000003.11:g.120876432C>A, NC_000003.11:g.120876432C>G, NG_052890.1:g.254383C>A, NG_052890.1:g.254383C>G, NM_014980.3:c.835C>A, NM_014980.3:c.835C>G, NM_014980.2:c.835C>A, NM_014980.2:c.835C>G, NM_001348345.2:c.835C>A, NM_001348345.2:c.835C>G, NM_001348345.1:c.835C>A, NM_001348345.1:c.835C>G, NR_145516.2:n.973C>A, NR_145516.2:n.973C>G, NR_145516.1:n.975C>A, NR_145516.1:n.975C>G, NM_001348343.2:c.835C>A, NM_001348343.2:c.835C>G, NM_001348343.1:c.835C>A, NM_001348343.1:c.835C>G, NM_001308330.2:c.835C>A, NM_001308330.2:c.835C>G, NM_001308330.1:c.835C>A, NM_001308330.1:c.835C>G, NM_001348344.2:c.835C>A, NM_001348344.2:c.835C>G, NM_001348344.1:c.835C>A, NM_001348344.1:c.835C>G, NR_145517.2:n.969C>A, NR_145517.2:n.969C>G, NR_145517.1:n.971C>A, NR_145517.1:n.971C>G, XM_006713825.4:c.835C>A, XM_006713825.4:c.835C>G, XM_006713825.3:c.835C>A, XM_006713825.3:c.835C>G, XM_006713825.2:c.835C>A, XM_006713825.2:c.835C>G, XM_006713825.1:c.835C>A, XM_006713825.1:c.835C>G, XM_011513333.4:c.835C>A, XM_011513333.4:c.835C>G, XM_011513333.3:c.835C>A, XM_011513333.3:c.835C>G, XM_011513333.2:c.835C>A, XM_011513333.2:c.835C>G, XM_011513333.1:c.835C>A, XM_011513333.1:c.835C>G, XM_011513331.3:c.835C>A, XM_011513331.3:c.835C>G, XM_011513331.2:c.835C>A, XM_011513331.2:c.835C>G, XM_011513331.1:c.835C>A, XM_011513331.1:c.835C>G, XM_017007535.3:c.835C>A, XM_017007535.3:c.835C>G, XM_017007535.2:c.835C>A, XM_017007535.2:c.835C>G, XM_017007535.1:c.835C>A, XM_017007535.1:c.835C>G, XR_924217.3:n.973C>A, XR_924217.3:n.973C>G, XR_924217.2:n.972C>A, XR_924217.2:n.972C>G, XR_924217.1:n.972C>A, XR_924217.1:n.972C>G, XM_017007534.2:c.835C>A, XM_017007534.2:c.835C>G, XM_017007534.1:c.835C>A, XM_017007534.1:c.835C>G, XR_001740373.2:n.973C>A, XR_001740373.2:n.973C>G, XR_001740373.1:n.972C>A, XR_001740373.1:n.972C>G, XM_047449249.1:c.274C>A, XM_047449249.1:c.274C>G, NP_055795.1:p.Leu279Met, NP_055795.1:p.Leu279Val, NP_001335274.1:p.Leu279Met, NP_001335274.1:p.Leu279Val, NP_001335272.1:p.Leu279Met, NP_001335272.1:p.Leu279Val, NP_001295259.1:p.Leu279Met, NP_001295259.1:p.Leu279Val, NP_001335273.1:p.Leu279Met, NP_001335273.1:p.Leu279Val, XP_006713888.1:p.Leu279Met, XP_006713888.1:p.Leu279Val, XP_011511635.1:p.Leu279Met, XP_011511635.1:p.Leu279Val, XP_011511633.1:p.Leu279Met, XP_011511633.1:p.Leu279Val, XP_016863024.1:p.Leu279Met, XP_016863024.1:p.Leu279Val, XP_016863023.1:p.Leu279Met, XP_016863023.1:p.Leu279Val, XP_047305205.1:p.Leu92Met, XP_047305205.1:p.Leu92Val

                        12.

                        rs1471537400 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          3:121279881 (GRCh38)
                          3:120998728 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:121279880:A:G
                          Gene:
                          STXBP5L (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000003.12:g.121279881A>G, NC_000003.11:g.120998728A>G, NG_052890.1:g.376679A>G, NM_014980.3:c.2035A>G, NM_014980.2:c.2035A>G, NM_001348345.2:c.2035A>G, NM_001348345.1:c.2035A>G, NR_145516.2:n.2301A>G, NR_145516.1:n.2303A>G, NM_001348343.2:c.2035A>G, NM_001348343.1:c.2035A>G, NM_001308330.2:c.2035A>G, NM_001308330.1:c.2035A>G, NM_001348344.2:c.2035A>G, NM_001348344.1:c.2035A>G, XM_006713825.4:c.2035A>G, XM_006713825.3:c.2035A>G, XM_006713825.2:c.2035A>G, XM_006713825.1:c.2035A>G, XM_011513331.3:c.2035A>G, XM_011513331.2:c.2035A>G, XM_011513331.1:c.2035A>G, XR_924217.3:n.2173A>G, XR_924217.2:n.2172A>G, XR_924217.1:n.2172A>G, XM_011513332.2:c.583A>G, XM_011513332.1:c.583A>G, XM_017007534.2:c.2035A>G, XM_017007534.1:c.2035A>G, XR_001740373.2:n.2173A>G, XR_001740373.1:n.2172A>G, XM_047449249.1:c.1474A>G, NP_055795.1:p.Ile679Val, NP_001335274.1:p.Ile679Val, NP_001335272.1:p.Ile679Val, NP_001295259.1:p.Ile679Val, NP_001335273.1:p.Ile679Val, XP_006713888.1:p.Ile679Val, XP_011511633.1:p.Ile679Val, XP_011511634.1:p.Ile195Val, XP_016863023.1:p.Ile679Val, XP_047305205.1:p.Ile492Val

                          13.

                          rs1471144697 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            3:121121704 (GRCh38)
                            3:120840551 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:121121703:A:G
                            Gene:
                            STXBP5L (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000003.12:g.121121704A>G, NC_000003.11:g.120840551A>G, NG_052890.1:g.218502A>G, NM_014980.3:c.669A>G, NM_014980.2:c.669A>G, NM_001348345.2:c.669A>G, NM_001348345.1:c.669A>G, NR_145516.2:n.807A>G, NR_145516.1:n.809A>G, NM_001348343.2:c.669A>G, NM_001348343.1:c.669A>G, NM_001308330.2:c.669A>G, NM_001308330.1:c.669A>G, NM_001348344.2:c.669A>G, NM_001348344.1:c.669A>G, NR_145517.2:n.803A>G, NR_145517.1:n.805A>G, XM_006713825.4:c.669A>G, XM_006713825.3:c.669A>G, XM_006713825.2:c.669A>G, XM_006713825.1:c.669A>G, XM_011513333.4:c.669A>G, XM_011513333.3:c.669A>G, XM_011513333.2:c.669A>G, XM_011513333.1:c.669A>G, XM_011513331.3:c.669A>G, XM_011513331.2:c.669A>G, XM_011513331.1:c.669A>G, XM_017007535.3:c.669A>G, XM_017007535.2:c.669A>G, XM_017007535.1:c.669A>G, XR_924217.3:n.807A>G, XR_924217.2:n.806A>G, XR_924217.1:n.806A>G, XM_017007534.2:c.669A>G, XM_017007534.1:c.669A>G, XR_001740373.2:n.807A>G, XR_001740373.1:n.806A>G, XM_047449249.1:c.11A>G, XP_047305205.1:p.Lys4Arg

                            14.

                            rs1470452065 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              3:120909707 (GRCh38)
                              3:120628554 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:120909706:A:G
                              Gene:
                              STXBP5L (Varview), LOC105374069 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000008/2 (GnomAD_exomes)
                              HGVS:
                              NC_000003.12:g.120909707A>G, NC_000003.11:g.120628554A>G, NG_052890.1:g.6505A>G, NM_014980.3:c.129A>G, NM_014980.2:c.129A>G, NM_001348345.2:c.129A>G, NM_001348345.1:c.129A>G, NR_145516.2:n.267A>G, NR_145516.1:n.269A>G, NM_001348343.2:c.129A>G, NM_001348343.1:c.129A>G, NM_001308330.2:c.129A>G, NM_001308330.1:c.129A>G, NM_001348344.2:c.129A>G, NM_001348344.1:c.129A>G, NR_145517.2:n.267A>G, NR_145517.1:n.269A>G, XM_006713825.4:c.129A>G, XM_006713825.3:c.129A>G, XM_006713825.2:c.129A>G, XM_006713825.1:c.129A>G, XM_011513333.4:c.129A>G, XM_011513333.3:c.129A>G, XM_011513333.2:c.129A>G, XM_011513333.1:c.129A>G, XM_011513331.3:c.129A>G, XM_011513331.2:c.129A>G, XM_011513331.1:c.129A>G, XM_017007535.3:c.129A>G, XM_017007535.2:c.129A>G, XM_017007535.1:c.129A>G, XR_924217.3:n.267A>G, XR_924217.2:n.266A>G, XR_924217.1:n.266A>G, XM_017007534.2:c.129A>G, XM_017007534.1:c.129A>G, XR_001740373.2:n.267A>G, XR_001740373.1:n.266A>G

                              15.

                              rs1468331132 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                3:121223006 (GRCh38)
                                3:120941853 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:121223005:A:G
                                Gene:
                                STXBP5L (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000003.12:g.121223006A>G, NC_000003.11:g.120941853A>G, NG_052890.1:g.319804A>G, NM_014980.3:c.960A>G, NM_014980.2:c.960A>G, NM_001348345.2:c.960A>G, NM_001348345.1:c.960A>G, NR_145516.2:n.1098A>G, NR_145516.1:n.1100A>G, NM_001348343.2:c.960A>G, NM_001348343.1:c.960A>G, NM_001308330.2:c.960A>G, NM_001308330.1:c.960A>G, NM_001348344.2:c.960A>G, NM_001348344.1:c.960A>G, XM_006713825.4:c.960A>G, XM_006713825.3:c.960A>G, XM_006713825.2:c.960A>G, XM_006713825.1:c.960A>G, XM_011513333.4:c.960A>G, XM_011513333.3:c.960A>G, XM_011513333.2:c.960A>G, XM_011513333.1:c.960A>G, XM_011513331.3:c.960A>G, XM_011513331.2:c.960A>G, XM_011513331.1:c.960A>G, XM_017007535.3:c.960A>G, XM_017007535.2:c.960A>G, XM_017007535.1:c.960A>G, XR_924217.3:n.1098A>G, XR_924217.2:n.1097A>G, XR_924217.1:n.1097A>G, XM_017007534.2:c.960A>G, XM_017007534.1:c.960A>G, XR_001740373.2:n.1098A>G, XR_001740373.1:n.1097A>G, XM_047449249.1:c.399A>G

                                16.

                                rs1466904723 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  3:121045495 (GRCh38)
                                  3:120764342 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:121045494:A:C
                                  Gene:
                                  STXBP5L (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                  HGVS:
                                  NC_000003.12:g.121045495A>C, NC_000003.11:g.120764342A>C, NG_052890.1:g.142293A>C, NM_014980.3:c.430A>C, NM_014980.2:c.430A>C, NM_001348345.2:c.430A>C, NM_001348345.1:c.430A>C, NR_145516.2:n.568A>C, NR_145516.1:n.570A>C, NM_001348343.2:c.430A>C, NM_001348343.1:c.430A>C, NM_001308330.2:c.430A>C, NM_001308330.1:c.430A>C, NM_001348344.2:c.430A>C, NM_001348344.1:c.430A>C, NR_145517.2:n.564A>C, NR_145517.1:n.566A>C, XM_006713825.4:c.430A>C, XM_006713825.3:c.430A>C, XM_006713825.2:c.430A>C, XM_006713825.1:c.430A>C, XM_011513333.4:c.430A>C, XM_011513333.3:c.430A>C, XM_011513333.2:c.430A>C, XM_011513333.1:c.430A>C, XM_011513331.3:c.430A>C, XM_011513331.2:c.430A>C, XM_011513331.1:c.430A>C, XM_017007535.3:c.430A>C, XM_017007535.2:c.430A>C, XM_017007535.1:c.430A>C, XR_924217.3:n.568A>C, XR_924217.2:n.567A>C, XR_924217.1:n.567A>C, XM_017007534.2:c.430A>C, XM_017007534.1:c.430A>C, XR_001740373.2:n.568A>C, XR_001740373.1:n.567A>C

                                  17.

                                  rs1465351791 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    3:121041724 (GRCh38)
                                    3:120760571 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:121041723:C:T
                                    Gene:
                                    STXBP5L (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000003.12:g.121041724C>T, NC_000003.11:g.120760571C>T, NG_052890.1:g.138522C>T, NM_014980.3:c.312C>T, NM_014980.2:c.312C>T, NM_001348345.2:c.312C>T, NM_001348345.1:c.312C>T, NR_145516.2:n.450C>T, NR_145516.1:n.452C>T, NM_001348343.2:c.312C>T, NM_001348343.1:c.312C>T, NM_001308330.2:c.312C>T, NM_001308330.1:c.312C>T, NM_001348344.2:c.312C>T, NM_001348344.1:c.312C>T, NR_145517.2:n.446C>T, NR_145517.1:n.448C>T, XM_006713825.4:c.312C>T, XM_006713825.3:c.312C>T, XM_006713825.2:c.312C>T, XM_006713825.1:c.312C>T, XM_011513333.4:c.312C>T, XM_011513333.3:c.312C>T, XM_011513333.2:c.312C>T, XM_011513333.1:c.312C>T, XM_011513331.3:c.312C>T, XM_011513331.2:c.312C>T, XM_011513331.1:c.312C>T, XM_017007535.3:c.312C>T, XM_017007535.2:c.312C>T, XM_017007535.1:c.312C>T, XR_924217.3:n.450C>T, XR_924217.2:n.449C>T, XR_924217.1:n.449C>T, XM_017007534.2:c.312C>T, XM_017007534.1:c.312C>T, XR_001740373.2:n.450C>T, XR_001740373.1:n.449C>T

                                    18.

                                    rs1464740056 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->A [Show Flanks]
                                      Chromosome:
                                      3:121121676 (GRCh38)
                                      3:120840524 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:121121676:AA:AAA
                                      Gene:
                                      STXBP5L (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,frameshift_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAA=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000003.12:g.121121678dup, NC_000003.11:g.120840525dup, NG_052890.1:g.218476dup, NM_014980.3:c.643dup, NM_014980.2:c.643dup, NM_001348345.2:c.643dup, NM_001348345.1:c.643dup, NR_145516.2:n.781dup, NR_145516.1:n.783dup, NM_001348343.2:c.643dup, NM_001348343.1:c.643dup, NM_001308330.2:c.643dup, NM_001308330.1:c.643dup, NM_001348344.2:c.643dup, NM_001348344.1:c.643dup, NR_145517.2:n.777dup, NR_145517.1:n.779dup, XM_006713825.4:c.643dup, XM_006713825.3:c.643dup, XM_006713825.2:c.643dup, XM_006713825.1:c.643dup, XM_011513333.4:c.643dup, XM_011513333.3:c.643dup, XM_011513333.2:c.643dup, XM_011513333.1:c.643dup, XM_011513331.3:c.643dup, XM_011513331.2:c.643dup, XM_011513331.1:c.643dup, XM_017007535.3:c.643dup, XM_017007535.2:c.643dup, XM_017007535.1:c.643dup, XR_924217.3:n.781dup, XR_924217.2:n.780dup, XR_924217.1:n.780dup, XM_017007534.2:c.643dup, XM_017007534.1:c.643dup, XR_001740373.2:n.781dup, XR_001740373.1:n.780dup, XM_047449249.1:c.-16dup, NP_055795.1:p.Ser215fs, NP_001335274.1:p.Ser215fs, NP_001335272.1:p.Ser215fs, NP_001295259.1:p.Ser215fs, NP_001335273.1:p.Ser215fs, XP_006713888.1:p.Ser215fs, XP_011511635.1:p.Ser215fs, XP_011511633.1:p.Ser215fs, XP_016863024.1:p.Ser215fs, XP_016863023.1:p.Ser215fs

                                      19.

                                      rs1461778391 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        3:121121688 (GRCh38)
                                        3:120840535 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:121121687:C:A
                                        Gene:
                                        STXBP5L (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
                                        HGVS:
                                        NC_000003.12:g.121121688C>A, NC_000003.11:g.120840535C>A, NG_052890.1:g.218486C>A, NM_014980.3:c.653C>A, NM_014980.2:c.653C>A, NM_001348345.2:c.653C>A, NM_001348345.1:c.653C>A, NR_145516.2:n.791C>A, NR_145516.1:n.793C>A, NM_001348343.2:c.653C>A, NM_001348343.1:c.653C>A, NM_001308330.2:c.653C>A, NM_001308330.1:c.653C>A, NM_001348344.2:c.653C>A, NM_001348344.1:c.653C>A, NR_145517.2:n.787C>A, NR_145517.1:n.789C>A, XM_006713825.4:c.653C>A, XM_006713825.3:c.653C>A, XM_006713825.2:c.653C>A, XM_006713825.1:c.653C>A, XM_011513333.4:c.653C>A, XM_011513333.3:c.653C>A, XM_011513333.2:c.653C>A, XM_011513333.1:c.653C>A, XM_011513331.3:c.653C>A, XM_011513331.2:c.653C>A, XM_011513331.1:c.653C>A, XM_017007535.3:c.653C>A, XM_017007535.2:c.653C>A, XM_017007535.1:c.653C>A, XR_924217.3:n.791C>A, XR_924217.2:n.790C>A, XR_924217.1:n.790C>A, XM_017007534.2:c.653C>A, XM_017007534.1:c.653C>A, XR_001740373.2:n.791C>A, XR_001740373.1:n.790C>A, XM_047449249.1:c.-6C>A, NP_055795.1:p.Pro218Gln, NP_001335274.1:p.Pro218Gln, NP_001335272.1:p.Pro218Gln, NP_001295259.1:p.Pro218Gln, NP_001335273.1:p.Pro218Gln, XP_006713888.1:p.Pro218Gln, XP_011511635.1:p.Pro218Gln, XP_011511633.1:p.Pro218Gln, XP_016863024.1:p.Pro218Gln, XP_016863023.1:p.Pro218Gln

                                        20.

                                        rs1460714161 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          3:121223038 (GRCh38)
                                          3:120941885 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:121223037:A:G
                                          Gene:
                                          STXBP5L (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
                                          HGVS:
                                          NC_000003.12:g.121223038A>G, NC_000003.11:g.120941885A>G, NG_052890.1:g.319836A>G, NM_014980.3:c.992A>G, NM_014980.2:c.992A>G, NM_001348345.2:c.992A>G, NM_001348345.1:c.992A>G, NR_145516.2:n.1130A>G, NR_145516.1:n.1132A>G, NM_001348343.2:c.992A>G, NM_001348343.1:c.992A>G, NM_001308330.2:c.992A>G, NM_001308330.1:c.992A>G, NM_001348344.2:c.992A>G, NM_001348344.1:c.992A>G, XM_006713825.4:c.992A>G, XM_006713825.3:c.992A>G, XM_006713825.2:c.992A>G, XM_006713825.1:c.992A>G, XM_011513333.4:c.992A>G, XM_011513333.3:c.992A>G, XM_011513333.2:c.992A>G, XM_011513333.1:c.992A>G, XM_011513331.3:c.992A>G, XM_011513331.2:c.992A>G, XM_011513331.1:c.992A>G, XM_017007535.3:c.992A>G, XM_017007535.2:c.992A>G, XM_017007535.1:c.992A>G, XR_924217.3:n.1130A>G, XR_924217.2:n.1129A>G, XR_924217.1:n.1129A>G, XM_017007534.2:c.992A>G, XM_017007534.1:c.992A>G, XR_001740373.2:n.1130A>G, XR_001740373.1:n.1129A>G, XM_047449249.1:c.431A>G, NP_055795.1:p.Tyr331Cys, NP_001335274.1:p.Tyr331Cys, NP_001335272.1:p.Tyr331Cys, NP_001295259.1:p.Tyr331Cys, NP_001335273.1:p.Tyr331Cys, XP_006713888.1:p.Tyr331Cys, XP_011511635.1:p.Tyr331Cys, XP_011511633.1:p.Tyr331Cys, XP_016863024.1:p.Tyr331Cys, XP_016863023.1:p.Tyr331Cys, XP_047305205.1:p.Tyr144Cys

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