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Items: 1 to 20 of 2083

1.

rs1490540794 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    13:35667396 (GRCh38)
    13:36241533 (GRCh37)
    Canonical SPDI:
    NC_000013.11:35667395:C:T
    Gene:
    NBEA (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    NC_000013.11:g.35667396C>T, NC_000013.10:g.36241533C>T, NG_028156.1:g.730110C>T, NM_015678.5:c.8424C>T, NM_015678.4:c.8424C>T, NM_001204197.3:c.1803C>T, NM_001204197.2:c.1803C>T, NM_001204197.1:c.1803C>T, NM_001385012.1:c.8487C>T, NM_001379245.1:c.8478C>T, XM_005266346.5:c.8409C>T, XM_005266346.4:c.8409C>T, XM_005266346.3:c.8409C>T, XM_005266346.2:c.8409C>T, XM_005266346.1:c.8409C>T, XM_006719803.4:c.8472C>T, XM_006719803.3:c.8472C>T, XM_006719803.2:c.8472C>T, XM_006719803.1:c.8472C>T, XM_006719806.4:c.8415C>T, XM_006719806.3:c.8415C>T, XM_006719806.2:c.8415C>T, XM_006719806.1:c.8415C>T, XM_006719805.4:c.8400C>T, XM_006719805.3:c.8400C>T, XM_006719805.2:c.8400C>T, XM_006719805.1:c.8400C>T, XM_017020544.2:c.8469C>T, XM_017020544.1:c.8469C>T, XM_017020545.2:c.8406C>T, XM_017020545.1:c.8406C>T, XM_011535046.2:c.7050C>T, XM_011535046.1:c.7050C>T, XM_047430271.1:c.8166C>T, XM_047430269.1:c.8460C>T, XM_047430272.1:c.1803C>T

    2.

    rs1490022751 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      13:35551001 (GRCh38)
      13:36125138 (GRCh37)
      Canonical SPDI:
      NC_000013.11:35551000:G:A
      Gene:
      NBEA (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000014/2 (GnomAD)
      HGVS:
      NC_000013.11:g.35551001G>A, NC_000013.10:g.36125138G>A, NG_028156.1:g.613715G>A, NM_015678.5:c.6775G>A, NM_015678.4:c.6775G>A, NM_001204197.3:c.154G>A, NM_001204197.2:c.154G>A, NM_001204197.1:c.154G>A, NM_001385012.1:c.6775G>A, NM_001379245.1:c.6766G>A, XM_005266346.5:c.6775G>A, XM_005266346.4:c.6775G>A, XM_005266346.3:c.6775G>A, XM_005266346.2:c.6775G>A, XM_005266346.1:c.6775G>A, XM_006719803.4:c.6775G>A, XM_006719803.3:c.6775G>A, XM_006719803.2:c.6775G>A, XM_006719803.1:c.6775G>A, XM_006719806.4:c.6766G>A, XM_006719806.3:c.6766G>A, XM_006719806.2:c.6766G>A, XM_006719806.1:c.6766G>A, XM_006719805.4:c.6766G>A, XM_006719805.3:c.6766G>A, XM_006719805.2:c.6766G>A, XM_006719805.1:c.6766G>A, XM_011535047.3:c.6775G>A, XM_011535047.2:c.6775G>A, XM_011535047.1:c.6775G>A, XM_017020544.2:c.6757G>A, XM_017020544.1:c.6757G>A, XM_017020545.2:c.6757G>A, XM_017020545.1:c.6757G>A, XM_011535046.2:c.5338G>A, XM_011535046.1:c.5338G>A, XM_047430271.1:c.6454G>A, XM_047430269.1:c.6748G>A, XM_047430272.1:c.154G>A, NP_056493.3:p.Val2259Ile, NP_001191126.1:p.Val52Ile, NP_001371941.1:p.Val2259Ile, NP_001366174.1:p.Val2256Ile, XP_005266403.1:p.Val2259Ile, XP_006719866.1:p.Val2259Ile, XP_006719869.1:p.Val2256Ile, XP_006719868.1:p.Val2256Ile, XP_011533349.1:p.Val2259Ile, XP_016876033.1:p.Val2253Ile, XP_016876034.1:p.Val2253Ile, XP_011533348.1:p.Val1780Ile, XP_047286227.1:p.Val2152Ile, XP_047286225.1:p.Val2250Ile, XP_047286228.1:p.Val52Ile

      3.

      rs1489396796 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        13:35070013 (GRCh38)
        13:35644150 (GRCh37)
        Canonical SPDI:
        NC_000013.11:35070012:G:T
        Gene:
        NBEA (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
        HGVS:
        NC_000013.11:g.35070013G>T, NC_000013.10:g.35644150G>T, NG_028156.1:g.132727G>T, NM_015678.5:c.1345G>T, NM_015678.4:c.1345G>T, NM_001385012.1:c.1345G>T, NM_001379245.1:c.1345G>T, XM_005266346.5:c.1345G>T, XM_005266346.4:c.1345G>T, XM_005266346.3:c.1345G>T, XM_005266346.2:c.1345G>T, XM_005266346.1:c.1345G>T, XM_006719803.4:c.1345G>T, XM_006719803.3:c.1345G>T, XM_006719803.2:c.1345G>T, XM_006719803.1:c.1345G>T, XM_006719806.4:c.1345G>T, XM_006719806.3:c.1345G>T, XM_006719806.2:c.1345G>T, XM_006719806.1:c.1345G>T, XM_006719805.4:c.1345G>T, XM_006719805.3:c.1345G>T, XM_006719805.2:c.1345G>T, XM_006719805.1:c.1345G>T, XM_011535047.3:c.1345G>T, XM_011535047.2:c.1345G>T, XM_011535047.1:c.1345G>T, XM_017020544.2:c.1345G>T, XM_017020544.1:c.1345G>T, XM_017020545.2:c.1345G>T, XM_017020545.1:c.1345G>T, XM_047430271.1:c.1024G>T, XM_047430269.1:c.1345G>T, NP_056493.3:p.Ala449Ser, NP_001371941.1:p.Ala449Ser, NP_001366174.1:p.Ala449Ser, XP_005266403.1:p.Ala449Ser, XP_006719866.1:p.Ala449Ser, XP_006719869.1:p.Ala449Ser, XP_006719868.1:p.Ala449Ser, XP_011533349.1:p.Ala449Ser, XP_016876033.1:p.Ala449Ser, XP_016876034.1:p.Ala449Ser, XP_047286227.1:p.Ala342Ser, XP_047286225.1:p.Ala449Ser

        4.

        rs1488866314 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          13:35654935 (GRCh38)
          13:36229072 (GRCh37)
          Canonical SPDI:
          NC_000013.11:35654934:G:A,NC_000013.11:35654934:G:C
          Gene:
          NBEA (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          C=0.000011/3 (TOPMED)
          C=0.000014/2 (GnomAD)
          HGVS:
          NC_000013.11:g.35654935G>A, NC_000013.11:g.35654935G>C, NC_000013.10:g.36229072G>A, NC_000013.10:g.36229072G>C, NG_028156.1:g.717649G>A, NG_028156.1:g.717649G>C, NM_015678.5:c.8053G>A, NM_015678.5:c.8053G>C, NM_015678.4:c.8053G>A, NM_015678.4:c.8053G>C, NM_001204197.3:c.1432G>A, NM_001204197.3:c.1432G>C, NM_001204197.2:c.1432G>A, NM_001204197.2:c.1432G>C, NM_001204197.1:c.1432G>A, NM_001204197.1:c.1432G>C, NM_001385012.1:c.8116G>A, NM_001385012.1:c.8116G>C, NM_001379245.1:c.8107G>A, NM_001379245.1:c.8107G>C, XM_005266346.5:c.8038G>A, XM_005266346.5:c.8038G>C, XM_005266346.4:c.8038G>A, XM_005266346.4:c.8038G>C, XM_005266346.3:c.8038G>A, XM_005266346.3:c.8038G>C, XM_005266346.2:c.8038G>A, XM_005266346.2:c.8038G>C, XM_005266346.1:c.8038G>A, XM_005266346.1:c.8038G>C, XM_006719803.4:c.8101G>A, XM_006719803.4:c.8101G>C, XM_006719803.3:c.8101G>A, XM_006719803.3:c.8101G>C, XM_006719803.2:c.8101G>A, XM_006719803.2:c.8101G>C, XM_006719803.1:c.8101G>A, XM_006719803.1:c.8101G>C, XM_006719806.4:c.8044G>A, XM_006719806.4:c.8044G>C, XM_006719806.3:c.8044G>A, XM_006719806.3:c.8044G>C, XM_006719806.2:c.8044G>A, XM_006719806.2:c.8044G>C, XM_006719806.1:c.8044G>A, XM_006719806.1:c.8044G>C, XM_006719805.4:c.8029G>A, XM_006719805.4:c.8029G>C, XM_006719805.3:c.8029G>A, XM_006719805.3:c.8029G>C, XM_006719805.2:c.8029G>A, XM_006719805.2:c.8029G>C, XM_006719805.1:c.8029G>A, XM_006719805.1:c.8029G>C, XM_017020544.2:c.8098G>A, XM_017020544.2:c.8098G>C, XM_017020544.1:c.8098G>A, XM_017020544.1:c.8098G>C, XM_017020545.2:c.8035G>A, XM_017020545.2:c.8035G>C, XM_017020545.1:c.8035G>A, XM_017020545.1:c.8035G>C, XM_011535046.2:c.6679G>A, XM_011535046.2:c.6679G>C, XM_011535046.1:c.6679G>A, XM_011535046.1:c.6679G>C, XM_047430271.1:c.7795G>A, XM_047430271.1:c.7795G>C, XM_047430269.1:c.8089G>A, XM_047430269.1:c.8089G>C, XM_047430272.1:c.1432G>A, XM_047430272.1:c.1432G>C, NP_056493.3:p.Val2685Ile, NP_056493.3:p.Val2685Leu, NP_001191126.1:p.Val478Ile, NP_001191126.1:p.Val478Leu, NP_001371941.1:p.Val2706Ile, NP_001371941.1:p.Val2706Leu, NP_001366174.1:p.Val2703Ile, NP_001366174.1:p.Val2703Leu, XP_005266403.1:p.Val2680Ile, XP_005266403.1:p.Val2680Leu, XP_006719866.1:p.Val2701Ile, XP_006719866.1:p.Val2701Leu, XP_006719869.1:p.Val2682Ile, XP_006719869.1:p.Val2682Leu, XP_006719868.1:p.Val2677Ile, XP_006719868.1:p.Val2677Leu, XP_016876033.1:p.Val2700Ile, XP_016876033.1:p.Val2700Leu, XP_016876034.1:p.Val2679Ile, XP_016876034.1:p.Val2679Leu, XP_011533348.1:p.Val2227Ile, XP_011533348.1:p.Val2227Leu, XP_047286227.1:p.Val2599Ile, XP_047286227.1:p.Val2599Leu, XP_047286225.1:p.Val2697Ile, XP_047286225.1:p.Val2697Leu, XP_047286228.1:p.Val478Ile, XP_047286228.1:p.Val478Leu

          5.

          rs1488847939 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CTC>- [Show Flanks]
            Chromosome:
            13:35211087 (GRCh38)
            13:35785224 (GRCh37)
            Canonical SPDI:
            NC_000013.11:35211081:TCCTCCTC:TCCTC
            Gene:
            NBEA (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,coding_sequence_variant,inframe_deletion
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TCCTC=0.000071/1 (ALFA)
            -=0.000007/1 (GnomAD)
            -=0.000019/5 (TOPMED)
            HGVS:
            NC_000013.11:g.35211084CTC[1], NC_000013.10:g.35785221CTC[1], NG_028156.1:g.273798CTC[1], NM_015678.5:c.5553CTC[1], NM_015678.4:c.5553CTC[1], NM_001385012.1:c.5553CTC[1], NM_001379245.1:c.5544CTC[1], XM_005266346.5:c.5553CTC[1], XM_005266346.4:c.5553CTC[1], XM_005266346.3:c.5553CTC[1], XM_005266346.2:c.5553CTC[1], XM_005266346.1:c.5553CTC[1], XM_006719803.4:c.5553CTC[1], XM_006719803.3:c.5553CTC[1], XM_006719803.2:c.5553CTC[1], XM_006719803.1:c.5553CTC[1], XM_006719806.4:c.5544CTC[1], XM_006719806.3:c.5544CTC[1], XM_006719806.2:c.5544CTC[1], XM_006719806.1:c.5544CTC[1], XM_006719805.4:c.5544CTC[1], XM_006719805.3:c.5544CTC[1], XM_006719805.2:c.5544CTC[1], XM_006719805.1:c.5544CTC[1], XM_011535047.3:c.5553CTC[1], XM_011535047.2:c.5553CTC[1], XM_011535047.1:c.5553CTC[1], XM_017020544.2:c.5535CTC[1], XM_017020544.1:c.5535CTC[1], XM_017020545.2:c.5535CTC[1], XM_017020545.1:c.5535CTC[1], XM_011535046.2:c.4116CTC[1], XM_011535046.1:c.4116CTC[1], XM_047430271.1:c.5232CTC[1], XM_047430269.1:c.5526CTC[1], NP_056493.3:p.Ser1855del, NP_001371941.1:p.Ser1855del, NP_001366174.1:p.Ser1852del, XP_005266403.1:p.Ser1855del, XP_006719866.1:p.Ser1855del, XP_006719869.1:p.Ser1852del, XP_006719868.1:p.Ser1852del, XP_011533349.1:p.Ser1855del, XP_016876033.1:p.Ser1849del, XP_016876034.1:p.Ser1849del, XP_011533348.1:p.Ser1376del, XP_047286227.1:p.Ser1748del, XP_047286225.1:p.Ser1846del

            6.

            rs1487615752 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              13:35161758 (GRCh38)
              13:35735895 (GRCh37)
              Canonical SPDI:
              NC_000013.11:35161757:G:C
              Gene:
              NBEA (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000013.11:g.35161758G>C, NC_000013.10:g.35735895G>C, NG_028156.1:g.224472G>C, NM_015678.5:c.3870G>C, NM_015678.4:c.3870G>C, NM_001385012.1:c.3870G>C, NM_001379245.1:c.3870G>C, XM_005266346.5:c.3870G>C, XM_005266346.4:c.3870G>C, XM_005266346.3:c.3870G>C, XM_005266346.2:c.3870G>C, XM_005266346.1:c.3870G>C, XM_006719803.4:c.3870G>C, XM_006719803.3:c.3870G>C, XM_006719803.2:c.3870G>C, XM_006719803.1:c.3870G>C, XM_006719806.4:c.3870G>C, XM_006719806.3:c.3870G>C, XM_006719806.2:c.3870G>C, XM_006719806.1:c.3870G>C, XM_006719805.4:c.3870G>C, XM_006719805.3:c.3870G>C, XM_006719805.2:c.3870G>C, XM_006719805.1:c.3870G>C, XM_011535047.3:c.3870G>C, XM_011535047.2:c.3870G>C, XM_011535047.1:c.3870G>C, XM_017020544.2:c.3870G>C, XM_017020544.1:c.3870G>C, XM_017020545.2:c.3870G>C, XM_017020545.1:c.3870G>C, XM_011535046.2:c.2433G>C, XM_011535046.1:c.2433G>C, XM_047430271.1:c.3549G>C, XM_047430269.1:c.3870G>C, NP_056493.3:p.Gln1290His, NP_001371941.1:p.Gln1290His, NP_001366174.1:p.Gln1290His, XP_005266403.1:p.Gln1290His, XP_006719866.1:p.Gln1290His, XP_006719869.1:p.Gln1290His, XP_006719868.1:p.Gln1290His, XP_011533349.1:p.Gln1290His, XP_016876033.1:p.Gln1290His, XP_016876034.1:p.Gln1290His, XP_011533348.1:p.Gln811His, XP_047286227.1:p.Gln1183His, XP_047286225.1:p.Gln1290His

              7.

              rs1487421262 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                13:35667552 (GRCh38)
                13:36241689 (GRCh37)
                Canonical SPDI:
                NC_000013.11:35667551:G:A,NC_000013.11:35667551:G:C
                Gene:
                NBEA (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                C=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000013.11:g.35667552G>A, NC_000013.11:g.35667552G>C, NC_000013.10:g.36241689G>A, NC_000013.10:g.36241689G>C, NG_028156.1:g.730266G>A, NG_028156.1:g.730266G>C, NM_015678.5:c.8580G>A, NM_015678.5:c.8580G>C, NM_015678.4:c.8580G>A, NM_015678.4:c.8580G>C, NM_001204197.3:c.1959G>A, NM_001204197.3:c.1959G>C, NM_001204197.2:c.1959G>A, NM_001204197.2:c.1959G>C, NM_001204197.1:c.1959G>A, NM_001204197.1:c.1959G>C, NM_001385012.1:c.8643G>A, NM_001385012.1:c.8643G>C, NM_001379245.1:c.8634G>A, NM_001379245.1:c.8634G>C, XM_005266346.5:c.8565G>A, XM_005266346.5:c.8565G>C, XM_005266346.4:c.8565G>A, XM_005266346.4:c.8565G>C, XM_005266346.3:c.8565G>A, XM_005266346.3:c.8565G>C, XM_005266346.2:c.8565G>A, XM_005266346.2:c.8565G>C, XM_005266346.1:c.8565G>A, XM_005266346.1:c.8565G>C, XM_006719803.4:c.8628G>A, XM_006719803.4:c.8628G>C, XM_006719803.3:c.8628G>A, XM_006719803.3:c.8628G>C, XM_006719803.2:c.8628G>A, XM_006719803.2:c.8628G>C, XM_006719803.1:c.8628G>A, XM_006719803.1:c.8628G>C, XM_006719806.4:c.8571G>A, XM_006719806.4:c.8571G>C, XM_006719806.3:c.8571G>A, XM_006719806.3:c.8571G>C, XM_006719806.2:c.8571G>A, XM_006719806.2:c.8571G>C, XM_006719806.1:c.8571G>A, XM_006719806.1:c.8571G>C, XM_006719805.4:c.8556G>A, XM_006719805.4:c.8556G>C, XM_006719805.3:c.8556G>A, XM_006719805.3:c.8556G>C, XM_006719805.2:c.8556G>A, XM_006719805.2:c.8556G>C, XM_006719805.1:c.8556G>A, XM_006719805.1:c.8556G>C, XM_017020544.2:c.8625G>A, XM_017020544.2:c.8625G>C, XM_017020544.1:c.8625G>A, XM_017020544.1:c.8625G>C, XM_017020545.2:c.8562G>A, XM_017020545.2:c.8562G>C, XM_017020545.1:c.8562G>A, XM_017020545.1:c.8562G>C, XM_011535046.2:c.7206G>A, XM_011535046.2:c.7206G>C, XM_011535046.1:c.7206G>A, XM_011535046.1:c.7206G>C, XM_047430271.1:c.8322G>A, XM_047430271.1:c.8322G>C, XM_047430269.1:c.8616G>A, XM_047430269.1:c.8616G>C, XM_047430272.1:c.1959G>A, XM_047430272.1:c.1959G>C, NP_056493.3:p.Glu2860Asp, NP_001191126.1:p.Glu653Asp, NP_001371941.1:p.Glu2881Asp, NP_001366174.1:p.Glu2878Asp, XP_005266403.1:p.Glu2855Asp, XP_006719866.1:p.Glu2876Asp, XP_006719869.1:p.Glu2857Asp, XP_006719868.1:p.Glu2852Asp, XP_016876033.1:p.Glu2875Asp, XP_016876034.1:p.Glu2854Asp, XP_011533348.1:p.Glu2402Asp, XP_047286227.1:p.Glu2774Asp, XP_047286225.1:p.Glu2872Asp, XP_047286228.1:p.Glu653Asp

                8.

                rs1487364672 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  13:35161852 (GRCh38)
                  13:35735989 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:35161851:C:T
                  Gene:
                  NBEA (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0.000071/1 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000013.11:g.35161852C>T, NC_000013.10:g.35735989C>T, NG_028156.1:g.224566C>T, NM_015678.5:c.3964C>T, NM_015678.4:c.3964C>T, NM_001385012.1:c.3964C>T, NM_001379245.1:c.3964C>T, XM_005266346.5:c.3964C>T, XM_005266346.4:c.3964C>T, XM_005266346.3:c.3964C>T, XM_005266346.2:c.3964C>T, XM_005266346.1:c.3964C>T, XM_006719803.4:c.3964C>T, XM_006719803.3:c.3964C>T, XM_006719803.2:c.3964C>T, XM_006719803.1:c.3964C>T, XM_006719806.4:c.3964C>T, XM_006719806.3:c.3964C>T, XM_006719806.2:c.3964C>T, XM_006719806.1:c.3964C>T, XM_006719805.4:c.3964C>T, XM_006719805.3:c.3964C>T, XM_006719805.2:c.3964C>T, XM_006719805.1:c.3964C>T, XM_011535047.3:c.3964C>T, XM_011535047.2:c.3964C>T, XM_011535047.1:c.3964C>T, XM_017020544.2:c.3964C>T, XM_017020544.1:c.3964C>T, XM_017020545.2:c.3964C>T, XM_017020545.1:c.3964C>T, XM_011535046.2:c.2527C>T, XM_011535046.1:c.2527C>T, XM_047430271.1:c.3643C>T, XM_047430269.1:c.3964C>T, NP_056493.3:p.Pro1322Ser, NP_001371941.1:p.Pro1322Ser, NP_001366174.1:p.Pro1322Ser, XP_005266403.1:p.Pro1322Ser, XP_006719866.1:p.Pro1322Ser, XP_006719869.1:p.Pro1322Ser, XP_006719868.1:p.Pro1322Ser, XP_011533349.1:p.Pro1322Ser, XP_016876033.1:p.Pro1322Ser, XP_016876034.1:p.Pro1322Ser, XP_011533348.1:p.Pro843Ser, XP_047286227.1:p.Pro1215Ser, XP_047286225.1:p.Pro1322Ser

                  9.

                  rs1486965235 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    13:35110822 (GRCh38)
                    13:35684959 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:35110821:C:G
                    Gene:
                    NBEA (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000013.11:g.35110822C>G, NC_000013.10:g.35684959C>G, NG_028156.1:g.173536C>G, NM_015678.5:c.1846C>G, NM_015678.4:c.1846C>G, NM_001385012.1:c.1846C>G, NM_001379245.1:c.1846C>G, XM_005266346.5:c.1846C>G, XM_005266346.4:c.1846C>G, XM_005266346.3:c.1846C>G, XM_005266346.2:c.1846C>G, XM_005266346.1:c.1846C>G, XM_006719803.4:c.1846C>G, XM_006719803.3:c.1846C>G, XM_006719803.2:c.1846C>G, XM_006719803.1:c.1846C>G, XM_006719806.4:c.1846C>G, XM_006719806.3:c.1846C>G, XM_006719806.2:c.1846C>G, XM_006719806.1:c.1846C>G, XM_006719805.4:c.1846C>G, XM_006719805.3:c.1846C>G, XM_006719805.2:c.1846C>G, XM_006719805.1:c.1846C>G, XM_011535047.3:c.1846C>G, XM_011535047.2:c.1846C>G, XM_011535047.1:c.1846C>G, XM_017020544.2:c.1846C>G, XM_017020544.1:c.1846C>G, XM_017020545.2:c.1846C>G, XM_017020545.1:c.1846C>G, XM_011535046.2:c.409C>G, XM_011535046.1:c.409C>G, XM_047430271.1:c.1525C>G, XM_047430269.1:c.1846C>G, NP_056493.3:p.Leu616Val, NP_001371941.1:p.Leu616Val, NP_001366174.1:p.Leu616Val, XP_005266403.1:p.Leu616Val, XP_006719866.1:p.Leu616Val, XP_006719869.1:p.Leu616Val, XP_006719868.1:p.Leu616Val, XP_011533349.1:p.Leu616Val, XP_016876033.1:p.Leu616Val, XP_016876034.1:p.Leu616Val, XP_011533348.1:p.Leu137Val, XP_047286227.1:p.Leu509Val, XP_047286225.1:p.Leu616Val

                    10.

                    rs1486865407 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      13:35668472 (GRCh38)
                      13:36242609 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:35668471:T:C
                      Gene:
                      NBEA (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000013.11:g.35668472T>C, NC_000013.10:g.36242609T>C, NG_028156.1:g.731186T>C, NM_015678.5:c.8703T>C, NM_015678.4:c.8703T>C, NM_001204197.3:c.2082T>C, NM_001204197.2:c.2082T>C, NM_001204197.1:c.2082T>C, NM_001385012.1:c.8766T>C, NM_001379245.1:c.8757T>C, XM_005266346.5:c.8688T>C, XM_005266346.4:c.8688T>C, XM_005266346.3:c.8688T>C, XM_005266346.2:c.8688T>C, XM_005266346.1:c.8688T>C, XM_006719803.4:c.8751T>C, XM_006719803.3:c.8751T>C, XM_006719803.2:c.8751T>C, XM_006719803.1:c.8751T>C, XM_006719806.4:c.8694T>C, XM_006719806.3:c.8694T>C, XM_006719806.2:c.8694T>C, XM_006719806.1:c.8694T>C, XM_006719805.4:c.8679T>C, XM_006719805.3:c.8679T>C, XM_006719805.2:c.8679T>C, XM_006719805.1:c.8679T>C, XM_017020544.2:c.8748T>C, XM_017020544.1:c.8748T>C, XM_017020545.2:c.8685T>C, XM_017020545.1:c.8685T>C, XM_011535046.2:c.7329T>C, XM_011535046.1:c.7329T>C, XM_047430271.1:c.8445T>C, XM_047430269.1:c.8739T>C, XM_047430272.1:c.2082T>C

                      11.

                      rs1486508724 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        13:35118406 (GRCh38)
                        13:35692543 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:35118405:A:G
                        Gene:
                        NBEA (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000013.11:g.35118406A>G, NC_000013.10:g.35692543A>G, NG_028156.1:g.181120A>G, NM_015678.5:c.2175A>G, NM_015678.4:c.2175A>G, NM_001385012.1:c.2175A>G, NM_001379245.1:c.2175A>G, XM_005266346.5:c.2175A>G, XM_005266346.4:c.2175A>G, XM_005266346.3:c.2175A>G, XM_005266346.2:c.2175A>G, XM_005266346.1:c.2175A>G, XM_006719803.4:c.2175A>G, XM_006719803.3:c.2175A>G, XM_006719803.2:c.2175A>G, XM_006719803.1:c.2175A>G, XM_006719806.4:c.2175A>G, XM_006719806.3:c.2175A>G, XM_006719806.2:c.2175A>G, XM_006719806.1:c.2175A>G, XM_006719805.4:c.2175A>G, XM_006719805.3:c.2175A>G, XM_006719805.2:c.2175A>G, XM_006719805.1:c.2175A>G, XM_011535047.3:c.2175A>G, XM_011535047.2:c.2175A>G, XM_011535047.1:c.2175A>G, XM_017020544.2:c.2175A>G, XM_017020544.1:c.2175A>G, XM_017020545.2:c.2175A>G, XM_017020545.1:c.2175A>G, XM_011535046.2:c.738A>G, XM_011535046.1:c.738A>G, XM_047430271.1:c.1854A>G, XM_047430269.1:c.2175A>G

                        12.

                        rs1485336223 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          13:35159535 (GRCh38)
                          13:35733672 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:35159534:G:A
                          Gene:
                          NBEA (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000224/1 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000223/1 (Estonian)
                          HGVS:
                          NC_000013.11:g.35159535G>A, NC_000013.10:g.35733672G>A, NG_028156.1:g.222249G>A, NM_015678.5:c.3364G>A, NM_015678.4:c.3364G>A, NM_001385012.1:c.3364G>A, NM_001379245.1:c.3364G>A, XM_005266346.5:c.3364G>A, XM_005266346.4:c.3364G>A, XM_005266346.3:c.3364G>A, XM_005266346.2:c.3364G>A, XM_005266346.1:c.3364G>A, XM_006719803.4:c.3364G>A, XM_006719803.3:c.3364G>A, XM_006719803.2:c.3364G>A, XM_006719803.1:c.3364G>A, XM_006719806.4:c.3364G>A, XM_006719806.3:c.3364G>A, XM_006719806.2:c.3364G>A, XM_006719806.1:c.3364G>A, XM_006719805.4:c.3364G>A, XM_006719805.3:c.3364G>A, XM_006719805.2:c.3364G>A, XM_006719805.1:c.3364G>A, XM_011535047.3:c.3364G>A, XM_011535047.2:c.3364G>A, XM_011535047.1:c.3364G>A, XM_017020544.2:c.3364G>A, XM_017020544.1:c.3364G>A, XM_017020545.2:c.3364G>A, XM_017020545.1:c.3364G>A, XM_011535046.2:c.1927G>A, XM_011535046.1:c.1927G>A, XM_047430271.1:c.3043G>A, XM_047430269.1:c.3364G>A, NP_056493.3:p.Glu1122Lys, NP_001371941.1:p.Glu1122Lys, NP_001366174.1:p.Glu1122Lys, XP_005266403.1:p.Glu1122Lys, XP_006719866.1:p.Glu1122Lys, XP_006719869.1:p.Glu1122Lys, XP_006719868.1:p.Glu1122Lys, XP_011533349.1:p.Glu1122Lys, XP_016876033.1:p.Glu1122Lys, XP_016876034.1:p.Glu1122Lys, XP_011533348.1:p.Glu643Lys, XP_047286227.1:p.Glu1015Lys, XP_047286225.1:p.Glu1122Lys

                          13.

                          rs1484810854 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            13:34942987 (GRCh38)
                            13:35517124 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:34942986:T:C
                            Gene:
                            NBEA (Varview), LOC124903231 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,5_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000013.11:g.34942987T>C, NC_000013.10:g.35517124T>C, NG_028156.1:g.5701T>C, NM_015678.5:c.167T>C, NM_015678.4:c.167T>C, NM_001385012.1:c.167T>C, NM_001379245.1:c.167T>C, XM_005266346.5:c.167T>C, XM_005266346.4:c.167T>C, XM_005266346.3:c.167T>C, XM_005266346.2:c.167T>C, XM_005266346.1:c.167T>C, XM_006719803.4:c.167T>C, XM_006719803.3:c.167T>C, XM_006719803.2:c.167T>C, XM_006719803.1:c.167T>C, XM_006719806.4:c.167T>C, XM_006719806.3:c.167T>C, XM_006719806.2:c.167T>C, XM_006719806.1:c.167T>C, XM_006719805.4:c.167T>C, XM_006719805.3:c.167T>C, XM_006719805.2:c.167T>C, XM_006719805.1:c.167T>C, XM_011535047.3:c.167T>C, XM_011535047.2:c.167T>C, XM_011535047.1:c.167T>C, XM_017020544.2:c.167T>C, XM_017020544.1:c.167T>C, XM_017020545.2:c.167T>C, XM_017020545.1:c.167T>C, XM_047430271.1:c.-277T>C, XM_047430269.1:c.167T>C, NP_056493.3:p.Leu56Pro, NP_001371941.1:p.Leu56Pro, NP_001366174.1:p.Leu56Pro, XP_005266403.1:p.Leu56Pro, XP_006719866.1:p.Leu56Pro, XP_006719869.1:p.Leu56Pro, XP_006719868.1:p.Leu56Pro, XP_011533349.1:p.Leu56Pro, XP_016876033.1:p.Leu56Pro, XP_016876034.1:p.Leu56Pro, XP_047286225.1:p.Leu56Pro

                            14.

                            rs1484498616 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              13:35155813 (GRCh38)
                              13:35729950 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:35155812:C:A
                              Gene:
                              NBEA (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                              HGVS:
                              NC_000013.11:g.35155813C>A, NC_000013.10:g.35729950C>A, NG_028156.1:g.218527C>A, NM_015678.5:c.2485C>A, NM_015678.4:c.2485C>A, NM_001385012.1:c.2485C>A, NM_001379245.1:c.2485C>A, XM_005266346.5:c.2485C>A, XM_005266346.4:c.2485C>A, XM_005266346.3:c.2485C>A, XM_005266346.2:c.2485C>A, XM_005266346.1:c.2485C>A, XM_006719803.4:c.2485C>A, XM_006719803.3:c.2485C>A, XM_006719803.2:c.2485C>A, XM_006719803.1:c.2485C>A, XM_006719806.4:c.2485C>A, XM_006719806.3:c.2485C>A, XM_006719806.2:c.2485C>A, XM_006719806.1:c.2485C>A, XM_006719805.4:c.2485C>A, XM_006719805.3:c.2485C>A, XM_006719805.2:c.2485C>A, XM_006719805.1:c.2485C>A, XM_011535047.3:c.2485C>A, XM_011535047.2:c.2485C>A, XM_011535047.1:c.2485C>A, XM_017020544.2:c.2485C>A, XM_017020544.1:c.2485C>A, XM_017020545.2:c.2485C>A, XM_017020545.1:c.2485C>A, XM_011535046.2:c.1048C>A, XM_011535046.1:c.1048C>A, XM_047430271.1:c.2164C>A, XM_047430269.1:c.2485C>A, NP_056493.3:p.Pro829Thr, NP_001371941.1:p.Pro829Thr, NP_001366174.1:p.Pro829Thr, XP_005266403.1:p.Pro829Thr, XP_006719866.1:p.Pro829Thr, XP_006719869.1:p.Pro829Thr, XP_006719868.1:p.Pro829Thr, XP_011533349.1:p.Pro829Thr, XP_016876033.1:p.Pro829Thr, XP_016876034.1:p.Pro829Thr, XP_011533348.1:p.Pro350Thr, XP_047286227.1:p.Pro722Thr, XP_047286225.1:p.Pro829Thr

                              15.

                              rs1484456694 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                13:35196000 (GRCh38)
                                13:35770137 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:35195999:G:A
                                Gene:
                                NBEA (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000013.11:g.35196000G>A, NC_000013.10:g.35770137G>A, NG_028156.1:g.258714G>A, NM_015678.5:c.5064G>A, NM_015678.4:c.5064G>A, NM_001385012.1:c.5064G>A, NM_001379245.1:c.5055G>A, XM_005266346.5:c.5064G>A, XM_005266346.4:c.5064G>A, XM_005266346.3:c.5064G>A, XM_005266346.2:c.5064G>A, XM_005266346.1:c.5064G>A, XM_006719803.4:c.5064G>A, XM_006719803.3:c.5064G>A, XM_006719803.2:c.5064G>A, XM_006719803.1:c.5064G>A, XM_006719806.4:c.5055G>A, XM_006719806.3:c.5055G>A, XM_006719806.2:c.5055G>A, XM_006719806.1:c.5055G>A, XM_006719805.4:c.5055G>A, XM_006719805.3:c.5055G>A, XM_006719805.2:c.5055G>A, XM_006719805.1:c.5055G>A, XM_011535047.3:c.5064G>A, XM_011535047.2:c.5064G>A, XM_011535047.1:c.5064G>A, XM_017020544.2:c.5064G>A, XM_017020544.1:c.5064G>A, XM_017020545.2:c.5064G>A, XM_017020545.1:c.5064G>A, XM_011535046.2:c.3627G>A, XM_011535046.1:c.3627G>A, XM_047430271.1:c.4743G>A, XM_047430269.1:c.5055G>A

                                16.

                                rs1484091578 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  13:35070836 (GRCh38)
                                  13:35644973 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:35070835:G:C
                                  Gene:
                                  NBEA (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  C=0.000035/1 (TOMMO)
                                  HGVS:
                                  NC_000013.11:g.35070836G>C, NC_000013.10:g.35644973G>C, NG_028156.1:g.133550G>C, NM_015678.5:c.1555G>C, NM_015678.4:c.1555G>C, NM_001385012.1:c.1555G>C, NM_001379245.1:c.1555G>C, XM_005266346.5:c.1555G>C, XM_005266346.4:c.1555G>C, XM_005266346.3:c.1555G>C, XM_005266346.2:c.1555G>C, XM_005266346.1:c.1555G>C, XM_006719803.4:c.1555G>C, XM_006719803.3:c.1555G>C, XM_006719803.2:c.1555G>C, XM_006719803.1:c.1555G>C, XM_006719806.4:c.1555G>C, XM_006719806.3:c.1555G>C, XM_006719806.2:c.1555G>C, XM_006719806.1:c.1555G>C, XM_006719805.4:c.1555G>C, XM_006719805.3:c.1555G>C, XM_006719805.2:c.1555G>C, XM_006719805.1:c.1555G>C, XM_011535047.3:c.1555G>C, XM_011535047.2:c.1555G>C, XM_011535047.1:c.1555G>C, XM_017020544.2:c.1555G>C, XM_017020544.1:c.1555G>C, XM_017020545.2:c.1555G>C, XM_017020545.1:c.1555G>C, XM_011535046.2:c.12G>C, XM_011535046.1:c.12G>C, XM_047430271.1:c.1234G>C, XM_047430269.1:c.1555G>C, NP_056493.3:p.Val519Leu, NP_001371941.1:p.Val519Leu, NP_001366174.1:p.Val519Leu, XP_005266403.1:p.Val519Leu, XP_006719866.1:p.Val519Leu, XP_006719869.1:p.Val519Leu, XP_006719868.1:p.Val519Leu, XP_011533349.1:p.Val519Leu, XP_016876033.1:p.Val519Leu, XP_016876034.1:p.Val519Leu, XP_011533348.1:p.Lys4Asn, XP_047286227.1:p.Val412Leu, XP_047286225.1:p.Val519Leu

                                  17.

                                  rs1484054051 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    13:35655634 (GRCh38)
                                    13:36229771 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:35655633:G:A
                                    Gene:
                                    NBEA (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000013.11:g.35655634G>A, NC_000013.10:g.36229771G>A, NG_028156.1:g.718348G>A, NM_015678.5:c.8184G>A, NM_015678.4:c.8184G>A, NM_001204197.3:c.1563G>A, NM_001204197.2:c.1563G>A, NM_001204197.1:c.1563G>A, NM_001385012.1:c.8247G>A, NM_001379245.1:c.8238G>A, XM_005266346.5:c.8169G>A, XM_005266346.4:c.8169G>A, XM_005266346.3:c.8169G>A, XM_005266346.2:c.8169G>A, XM_005266346.1:c.8169G>A, XM_006719803.4:c.8232G>A, XM_006719803.3:c.8232G>A, XM_006719803.2:c.8232G>A, XM_006719803.1:c.8232G>A, XM_006719806.4:c.8175G>A, XM_006719806.3:c.8175G>A, XM_006719806.2:c.8175G>A, XM_006719806.1:c.8175G>A, XM_006719805.4:c.8160G>A, XM_006719805.3:c.8160G>A, XM_006719805.2:c.8160G>A, XM_006719805.1:c.8160G>A, XM_017020544.2:c.8229G>A, XM_017020544.1:c.8229G>A, XM_017020545.2:c.8166G>A, XM_017020545.1:c.8166G>A, XM_011535046.2:c.6810G>A, XM_011535046.1:c.6810G>A, XM_047430271.1:c.7926G>A, XM_047430269.1:c.8220G>A, XM_047430272.1:c.1563G>A

                                    18.

                                    rs1483886598 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      13:35159261 (GRCh38)
                                      13:35733398 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:35159260:A:C
                                      Gene:
                                      NBEA (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000013.11:g.35159261A>C, NC_000013.10:g.35733398A>C, NG_028156.1:g.221975A>C, NM_015678.5:c.3090A>C, NM_015678.4:c.3090A>C, NM_001385012.1:c.3090A>C, NM_001379245.1:c.3090A>C, XM_005266346.5:c.3090A>C, XM_005266346.4:c.3090A>C, XM_005266346.3:c.3090A>C, XM_005266346.2:c.3090A>C, XM_005266346.1:c.3090A>C, XM_006719803.4:c.3090A>C, XM_006719803.3:c.3090A>C, XM_006719803.2:c.3090A>C, XM_006719803.1:c.3090A>C, XM_006719806.4:c.3090A>C, XM_006719806.3:c.3090A>C, XM_006719806.2:c.3090A>C, XM_006719806.1:c.3090A>C, XM_006719805.4:c.3090A>C, XM_006719805.3:c.3090A>C, XM_006719805.2:c.3090A>C, XM_006719805.1:c.3090A>C, XM_011535047.3:c.3090A>C, XM_011535047.2:c.3090A>C, XM_011535047.1:c.3090A>C, XM_017020544.2:c.3090A>C, XM_017020544.1:c.3090A>C, XM_017020545.2:c.3090A>C, XM_017020545.1:c.3090A>C, XM_011535046.2:c.1653A>C, XM_011535046.1:c.1653A>C, XM_047430271.1:c.2769A>C, XM_047430269.1:c.3090A>C

                                      19.

                                      rs1483718227 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        13:35655616 (GRCh38)
                                        13:36229753 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:35655615:G:T
                                        Gene:
                                        NBEA (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,coding_sequence_variant,synonymous_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_000013.11:g.35655616G>T, NC_000013.10:g.36229753G>T, NG_028156.1:g.718330G>T, NM_015678.5:c.8166G>T, NM_015678.4:c.8166G>T, NM_001204197.3:c.1545G>T, NM_001204197.2:c.1545G>T, NM_001204197.1:c.1545G>T, NM_001385012.1:c.8229G>T, NM_001379245.1:c.8220G>T, XM_005266346.5:c.8151G>T, XM_005266346.4:c.8151G>T, XM_005266346.3:c.8151G>T, XM_005266346.2:c.8151G>T, XM_005266346.1:c.8151G>T, XM_006719803.4:c.8214G>T, XM_006719803.3:c.8214G>T, XM_006719803.2:c.8214G>T, XM_006719803.1:c.8214G>T, XM_006719806.4:c.8157G>T, XM_006719806.3:c.8157G>T, XM_006719806.2:c.8157G>T, XM_006719806.1:c.8157G>T, XM_006719805.4:c.8142G>T, XM_006719805.3:c.8142G>T, XM_006719805.2:c.8142G>T, XM_006719805.1:c.8142G>T, XM_017020544.2:c.8211G>T, XM_017020544.1:c.8211G>T, XM_017020545.2:c.8148G>T, XM_017020545.1:c.8148G>T, XM_011535046.2:c.6792G>T, XM_011535046.1:c.6792G>T, XM_047430271.1:c.7908G>T, XM_047430269.1:c.8202G>T, XM_047430272.1:c.1545G>T

                                        20.

                                        rs1483434271 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          13:35159749 (GRCh38)
                                          13:35733886 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:35159748:G:A
                                          Gene:
                                          NBEA (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000013.11:g.35159749G>A, NC_000013.10:g.35733886G>A, NG_028156.1:g.222463G>A, NM_015678.5:c.3578G>A, NM_015678.4:c.3578G>A, NM_001385012.1:c.3578G>A, NM_001379245.1:c.3578G>A, XM_005266346.5:c.3578G>A, XM_005266346.4:c.3578G>A, XM_005266346.3:c.3578G>A, XM_005266346.2:c.3578G>A, XM_005266346.1:c.3578G>A, XM_006719803.4:c.3578G>A, XM_006719803.3:c.3578G>A, XM_006719803.2:c.3578G>A, XM_006719803.1:c.3578G>A, XM_006719806.4:c.3578G>A, XM_006719806.3:c.3578G>A, XM_006719806.2:c.3578G>A, XM_006719806.1:c.3578G>A, XM_006719805.4:c.3578G>A, XM_006719805.3:c.3578G>A, XM_006719805.2:c.3578G>A, XM_006719805.1:c.3578G>A, XM_011535047.3:c.3578G>A, XM_011535047.2:c.3578G>A, XM_011535047.1:c.3578G>A, XM_017020544.2:c.3578G>A, XM_017020544.1:c.3578G>A, XM_017020545.2:c.3578G>A, XM_017020545.1:c.3578G>A, XM_011535046.2:c.2141G>A, XM_011535046.1:c.2141G>A, XM_047430271.1:c.3257G>A, XM_047430269.1:c.3578G>A, NP_056493.3:p.Ser1193Asn, NP_001371941.1:p.Ser1193Asn, NP_001366174.1:p.Ser1193Asn, XP_005266403.1:p.Ser1193Asn, XP_006719866.1:p.Ser1193Asn, XP_006719869.1:p.Ser1193Asn, XP_006719868.1:p.Ser1193Asn, XP_011533349.1:p.Ser1193Asn, XP_016876033.1:p.Ser1193Asn, XP_016876034.1:p.Ser1193Asn, XP_011533348.1:p.Ser714Asn, XP_047286227.1:p.Ser1086Asn, XP_047286225.1:p.Ser1193Asn

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