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Items: 1 to 20 of 287

1.

rs1485308626 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    14:70046238 (GRCh38)
    14:70512955 (GRCh37)
    Canonical SPDI:
    NC_000014.9:70046237:A:G
    Gene:
    SLC8A3 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    HGVS:
    NC_000014.9:g.70046238A>G, NC_000014.8:g.70512955A>G, NG_047080.1:g.182375T>C, NM_033262.5:c.2487T>C, NM_033262.4:c.2487T>C, NM_033262.3:c.2487T>C, NM_058240.4:c.2484T>C, NM_058240.3:c.2484T>C, NM_058240.2:c.2484T>C, NM_183002.3:c.2493T>C, NM_183002.2:c.2493T>C, NM_183002.1:c.2493T>C, NM_182932.3:c.2475T>C, NM_182932.2:c.2475T>C, NM_182932.1:c.2475T>C, NM_001130417.3:c.606T>C, NM_001130417.2:c.606T>C, NM_001130417.1:c.606T>C, NM_182936.3:c.564T>C, NM_182936.2:c.564T>C, NM_182936.1:c.564T>C, NR_104122.2:n.3006T>C, NR_104122.1:n.3125T>C, XM_006720240.4:c.624T>C, XM_006720240.3:c.624T>C, XM_006720240.2:c.624T>C, XM_006720240.1:c.624T>C, XM_017021607.2:c.2490T>C, XM_017021607.1:c.2490T>C, XM_017021609.2:c.2472T>C, XM_017021609.1:c.2472T>C, XM_017021606.2:c.2493T>C, XM_017021606.1:c.2493T>C, XM_017021608.2:c.2475T>C, XM_017021608.1:c.2475T>C, XM_017021611.2:c.645T>C, XM_017021611.1:c.645T>C, NM_182933.1:c.*508T>C, XM_047431711.1:c.2472T>C

    2.

    rs1485278289 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      14:70046323 (GRCh38)
      14:70513040 (GRCh37)
      Canonical SPDI:
      NC_000014.9:70046322:T:A
      Gene:
      SLC8A3 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_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_000014.9:g.70046323T>A, NC_000014.8:g.70513040T>A, NG_047080.1:g.182290A>T, NM_033262.5:c.2402A>T, NM_033262.4:c.2402A>T, NM_033262.3:c.2402A>T, NM_058240.4:c.2399A>T, NM_058240.3:c.2399A>T, NM_058240.2:c.2399A>T, NM_183002.3:c.2408A>T, NM_183002.2:c.2408A>T, NM_183002.1:c.2408A>T, NM_182932.3:c.2390A>T, NM_182932.2:c.2390A>T, NM_182932.1:c.2390A>T, NM_001130417.3:c.521A>T, NM_001130417.2:c.521A>T, NM_001130417.1:c.521A>T, NM_182936.3:c.479A>T, NM_182936.2:c.479A>T, NM_182936.1:c.479A>T, NR_104122.2:n.2921A>T, NR_104122.1:n.3040A>T, XM_006720240.4:c.539A>T, XM_006720240.3:c.539A>T, XM_006720240.2:c.539A>T, XM_006720240.1:c.539A>T, XM_017021607.2:c.2405A>T, XM_017021607.1:c.2405A>T, XM_017021609.2:c.2387A>T, XM_017021609.1:c.2387A>T, XM_017021606.2:c.2408A>T, XM_017021606.1:c.2408A>T, XM_017021608.2:c.2390A>T, XM_017021608.1:c.2390A>T, XM_017021611.2:c.560A>T, XM_017021611.1:c.560A>T, NM_182933.1:c.*423A>T, XM_047431711.1:c.2387A>T, NP_150287.1:p.Asp801Val, NP_489479.1:p.Asp800Val, NP_892114.1:p.Asp803Val, NP_891977.1:p.Asp797Val, NP_001123889.1:p.Asp174Val, NP_891981.1:p.Asp160Val, XP_006720303.1:p.Asp180Val, XP_016877096.1:p.Asp802Val, XP_016877098.1:p.Asp796Val, XP_016877095.1:p.Asp803Val, XP_016877097.1:p.Asp797Val, XP_016877100.1:p.Asp187Val, XP_047287667.1:p.Asp796Val

      3.

      rs1484989665 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        14:70052059 (GRCh38)
        14:70518776 (GRCh37)
        Canonical SPDI:
        NC_000014.9:70052058:C:T
        Gene:
        SLC8A3 (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_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_000014.9:g.70052059C>T, NC_000014.8:g.70518776C>T, NG_047080.1:g.176554G>A, NM_033262.5:c.1956G>A, NM_033262.4:c.1956G>A, NM_033262.3:c.1956G>A, NM_058240.4:c.1953G>A, NM_058240.3:c.1953G>A, NM_058240.2:c.1953G>A, NM_183002.3:c.1962G>A, NM_183002.2:c.1962G>A, NM_183002.1:c.1962G>A, NM_182932.3:c.1944G>A, NM_182932.2:c.1944G>A, NM_182932.1:c.1944G>A, NM_001130417.3:c.75G>A, NM_001130417.2:c.75G>A, NM_001130417.1:c.75G>A, NM_182936.3:c.33G>A, NM_182936.2:c.33G>A, NM_182936.1:c.33G>A, NR_104122.2:n.2475G>A, NR_104122.1:n.2594G>A, XM_006720240.4:c.93G>A, XM_006720240.3:c.93G>A, XM_006720240.2:c.93G>A, XM_006720240.1:c.93G>A, XM_017021607.2:c.1962G>A, XM_017021607.1:c.1962G>A, XM_017021609.2:c.1944G>A, XM_017021609.1:c.1944G>A, XM_017021606.2:c.1962G>A, XM_017021606.1:c.1962G>A, XM_017021608.2:c.1944G>A, XM_017021608.1:c.1944G>A, XM_017021611.2:c.114G>A, XM_017021611.1:c.114G>A, NM_182933.1:c.1840G>A, XM_047431711.1:c.1944G>A

        4.

        rs1484501896 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          14:70048932 (GRCh38)
          14:70515649 (GRCh37)
          Canonical SPDI:
          NC_000014.9:70048931:G:A
          Gene:
          SLC8A3 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
          Validated:
          by frequency,by cluster
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000014.9:g.70048932G>A, NC_000014.8:g.70515649G>A, NG_047080.1:g.179681C>T, NM_033262.5:c.2236C>T, NM_033262.4:c.2236C>T, NM_033262.3:c.2236C>T, NM_058240.4:c.2233C>T, NM_058240.3:c.2233C>T, NM_058240.2:c.2233C>T, NM_183002.3:c.2242C>T, NM_183002.2:c.2242C>T, NM_183002.1:c.2242C>T, NM_182932.3:c.2224C>T, NM_182932.2:c.2224C>T, NM_182932.1:c.2224C>T, NM_001130417.3:c.355C>T, NM_001130417.2:c.355C>T, NM_001130417.1:c.355C>T, NM_182936.3:c.313C>T, NM_182936.2:c.313C>T, NM_182936.1:c.313C>T, NR_104122.2:n.2755C>T, NR_104122.1:n.2874C>T, XM_006720240.4:c.373C>T, XM_006720240.3:c.373C>T, XM_006720240.2:c.373C>T, XM_006720240.1:c.373C>T, XM_017021607.2:c.2239C>T, XM_017021607.1:c.2239C>T, XM_017021609.2:c.2221C>T, XM_017021609.1:c.2221C>T, XM_017021606.2:c.2242C>T, XM_017021606.1:c.2242C>T, XM_017021608.2:c.2224C>T, XM_017021608.1:c.2224C>T, XM_017021611.2:c.394C>T, XM_017021611.1:c.394C>T, NM_182933.1:c.*257C>T, XM_047431711.1:c.2221C>T, NP_150287.1:p.Pro746Ser, NP_489479.1:p.Pro745Ser, NP_892114.1:p.Pro748Ser, NP_891977.1:p.Pro742Ser, NP_001123889.1:p.Pro119Ser, NP_891981.1:p.Pro105Ser, XP_006720303.1:p.Pro125Ser, XP_016877096.1:p.Pro747Ser, XP_016877098.1:p.Pro741Ser, XP_016877095.1:p.Pro748Ser, XP_016877097.1:p.Pro742Ser, XP_016877100.1:p.Pro132Ser, XP_047287667.1:p.Pro741Ser

          5.

          rs1480746322 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C,T [Show Flanks]
            Chromosome:
            14:70046124 (GRCh38)
            14:70512841 (GRCh37)
            Canonical SPDI:
            NC_000014.9:70046123:G:C,NC_000014.9:70046123:G:T
            Gene:
            SLC8A3 (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000028/1 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000014.9:g.70046124G>C, NC_000014.9:g.70046124G>T, NC_000014.8:g.70512841G>C, NC_000014.8:g.70512841G>T, NG_047080.1:g.182489C>G, NG_047080.1:g.182489C>A, NM_033262.5:c.2601C>G, NM_033262.5:c.2601C>A, NM_033262.4:c.2601C>G, NM_033262.4:c.2601C>A, NM_033262.3:c.2601C>G, NM_033262.3:c.2601C>A, NM_058240.4:c.2598C>G, NM_058240.4:c.2598C>A, NM_058240.3:c.2598C>G, NM_058240.3:c.2598C>A, NM_058240.2:c.2598C>G, NM_058240.2:c.2598C>A, NM_183002.3:c.2607C>G, NM_183002.3:c.2607C>A, NM_183002.2:c.2607C>G, NM_183002.2:c.2607C>A, NM_183002.1:c.2607C>G, NM_183002.1:c.2607C>A, NM_182932.3:c.2589C>G, NM_182932.3:c.2589C>A, NM_182932.2:c.2589C>G, NM_182932.2:c.2589C>A, NM_182932.1:c.2589C>G, NM_182932.1:c.2589C>A, NM_001130417.3:c.720C>G, NM_001130417.3:c.720C>A, NM_001130417.2:c.720C>G, NM_001130417.2:c.720C>A, NM_001130417.1:c.720C>G, NM_001130417.1:c.720C>A, NM_182936.3:c.678C>G, NM_182936.3:c.678C>A, NM_182936.2:c.678C>G, NM_182936.2:c.678C>A, NM_182936.1:c.678C>G, NM_182936.1:c.678C>A, NR_104122.2:n.3120C>G, NR_104122.2:n.3120C>A, NR_104122.1:n.3239C>G, NR_104122.1:n.3239C>A, XM_006720240.4:c.738C>G, XM_006720240.4:c.738C>A, XM_006720240.3:c.738C>G, XM_006720240.3:c.738C>A, XM_006720240.2:c.738C>G, XM_006720240.2:c.738C>A, XM_006720240.1:c.738C>G, XM_006720240.1:c.738C>A, XM_017021607.2:c.2604C>G, XM_017021607.2:c.2604C>A, XM_017021607.1:c.2604C>G, XM_017021607.1:c.2604C>A, XM_017021609.2:c.2586C>G, XM_017021609.2:c.2586C>A, XM_017021609.1:c.2586C>G, XM_017021609.1:c.2586C>A, XM_017021606.2:c.2607C>G, XM_017021606.2:c.2607C>A, XM_017021606.1:c.2607C>G, XM_017021606.1:c.2607C>A, XM_017021608.2:c.2589C>G, XM_017021608.2:c.2589C>A, XM_017021608.1:c.2589C>G, XM_017021608.1:c.2589C>A, XM_017021611.2:c.759C>G, XM_017021611.2:c.759C>A, XM_017021611.1:c.759C>G, XM_017021611.1:c.759C>A, NM_182933.1:c.*622C>G, NM_182933.1:c.*622C>A, XM_047431711.1:c.2586C>G, XM_047431711.1:c.2586C>A

            6.

            rs1476738820 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              14:70046066 (GRCh38)
              14:70512783 (GRCh37)
              Canonical SPDI:
              NC_000014.9:70046065:C:T
              Gene:
              SLC8A3 (Varview)
              Functional Consequence:
              missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0.000028/1 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              NC_000014.9:g.70046066C>T, NC_000014.8:g.70512783C>T, NG_047080.1:g.182547G>A, NM_033262.5:c.2659G>A, NM_033262.4:c.2659G>A, NM_033262.3:c.2659G>A, NM_058240.4:c.2656G>A, NM_058240.3:c.2656G>A, NM_058240.2:c.2656G>A, NM_183002.3:c.2665G>A, NM_183002.2:c.2665G>A, NM_183002.1:c.2665G>A, NM_182932.3:c.2647G>A, NM_182932.2:c.2647G>A, NM_182932.1:c.2647G>A, NM_001130417.3:c.778G>A, NM_001130417.2:c.778G>A, NM_001130417.1:c.778G>A, NM_182936.3:c.736G>A, NM_182936.2:c.736G>A, NM_182936.1:c.736G>A, NR_104122.2:n.3178G>A, NR_104122.1:n.3297G>A, XM_006720240.4:c.796G>A, XM_006720240.3:c.796G>A, XM_006720240.2:c.796G>A, XM_006720240.1:c.796G>A, XM_017021607.2:c.2662G>A, XM_017021607.1:c.2662G>A, XM_017021609.2:c.2644G>A, XM_017021609.1:c.2644G>A, XM_017021606.2:c.2665G>A, XM_017021606.1:c.2665G>A, XM_017021608.2:c.2647G>A, XM_017021608.1:c.2647G>A, XM_017021611.2:c.817G>A, XM_017021611.1:c.817G>A, NM_182933.1:c.*680G>A, XM_047431711.1:c.2644G>A, NP_150287.1:p.Gly887Arg, NP_489479.1:p.Gly886Arg, NP_892114.1:p.Gly889Arg, NP_891977.1:p.Gly883Arg, NP_001123889.1:p.Gly260Arg, NP_891981.1:p.Gly246Arg, XP_006720303.1:p.Gly266Arg, XP_016877096.1:p.Gly888Arg, XP_016877098.1:p.Gly882Arg, XP_016877095.1:p.Gly889Arg, XP_016877097.1:p.Gly883Arg, XP_016877100.1:p.Gly273Arg, XP_047287667.1:p.Gly882Arg

              7.

              rs1474006660 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                14:70048893 (GRCh38)
                14:70515610 (GRCh37)
                Canonical SPDI:
                NC_000014.9:70048892:A:C
                Gene:
                SLC8A3 (Varview)
                Functional Consequence:
                missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000014.9:g.70048893A>C, NC_000014.8:g.70515610A>C, NG_047080.1:g.179720T>G, NM_033262.5:c.2275T>G, NM_033262.4:c.2275T>G, NM_033262.3:c.2275T>G, NM_058240.4:c.2272T>G, NM_058240.3:c.2272T>G, NM_058240.2:c.2272T>G, NM_183002.3:c.2281T>G, NM_183002.2:c.2281T>G, NM_183002.1:c.2281T>G, NM_182932.3:c.2263T>G, NM_182932.2:c.2263T>G, NM_182932.1:c.2263T>G, NM_001130417.3:c.394T>G, NM_001130417.2:c.394T>G, NM_001130417.1:c.394T>G, NM_182936.3:c.352T>G, NM_182936.2:c.352T>G, NM_182936.1:c.352T>G, NR_104122.2:n.2794T>G, NR_104122.1:n.2913T>G, XM_006720240.4:c.412T>G, XM_006720240.3:c.412T>G, XM_006720240.2:c.412T>G, XM_006720240.1:c.412T>G, XM_017021607.2:c.2278T>G, XM_017021607.1:c.2278T>G, XM_017021609.2:c.2260T>G, XM_017021609.1:c.2260T>G, XM_017021606.2:c.2281T>G, XM_017021606.1:c.2281T>G, XM_017021608.2:c.2263T>G, XM_017021608.1:c.2263T>G, XM_017021611.2:c.433T>G, XM_017021611.1:c.433T>G, NM_182933.1:c.*296T>G, XM_047431711.1:c.2260T>G, NP_150287.1:p.Ser759Ala, NP_489479.1:p.Ser758Ala, NP_892114.1:p.Ser761Ala, NP_891977.1:p.Ser755Ala, NP_001123889.1:p.Ser132Ala, NP_891981.1:p.Ser118Ala, XP_006720303.1:p.Ser138Ala, XP_016877096.1:p.Ser760Ala, XP_016877098.1:p.Ser754Ala, XP_016877095.1:p.Ser761Ala, XP_016877097.1:p.Ser755Ala, XP_016877100.1:p.Ser145Ala, XP_047287667.1:p.Ser754Ala

                8.

                rs1472049533 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C,G [Show Flanks]
                  Chromosome:
                  14:70045957 (GRCh38)
                  14:70512674 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:70045956:T:C,NC_000014.9:70045956:T:G
                  Gene:
                  SLC8A3 (Varview)
                  Functional Consequence:
                  missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000011/3 (TOPMED)
                  C=0.000013/3 (GnomAD_exomes)
                  HGVS:
                  NC_000014.9:g.70045957T>C, NC_000014.9:g.70045957T>G, NC_000014.8:g.70512674T>C, NC_000014.8:g.70512674T>G, NG_047080.1:g.182656A>G, NG_047080.1:g.182656A>C, NM_033262.5:c.2768A>G, NM_033262.5:c.2768A>C, NM_033262.4:c.2768A>G, NM_033262.4:c.2768A>C, NM_033262.3:c.2768A>G, NM_033262.3:c.2768A>C, NM_058240.4:c.2765A>G, NM_058240.4:c.2765A>C, NM_058240.3:c.2765A>G, NM_058240.3:c.2765A>C, NM_058240.2:c.2765A>G, NM_058240.2:c.2765A>C, NM_183002.3:c.2774A>G, NM_183002.3:c.2774A>C, NM_183002.2:c.2774A>G, NM_183002.2:c.2774A>C, NM_183002.1:c.2774A>G, NM_183002.1:c.2774A>C, NM_182932.3:c.2756A>G, NM_182932.3:c.2756A>C, NM_182932.2:c.2756A>G, NM_182932.2:c.2756A>C, NM_182932.1:c.2756A>G, NM_182932.1:c.2756A>C, NM_001130417.3:c.887A>G, NM_001130417.3:c.887A>C, NM_001130417.2:c.887A>G, NM_001130417.2:c.887A>C, NM_001130417.1:c.887A>G, NM_001130417.1:c.887A>C, NM_182936.3:c.845A>G, NM_182936.3:c.845A>C, NM_182936.2:c.845A>G, NM_182936.2:c.845A>C, NM_182936.1:c.845A>G, NM_182936.1:c.845A>C, NR_104122.2:n.3287A>G, NR_104122.2:n.3287A>C, NR_104122.1:n.3406A>G, NR_104122.1:n.3406A>C, XM_006720240.4:c.905A>G, XM_006720240.4:c.905A>C, XM_006720240.3:c.905A>G, XM_006720240.3:c.905A>C, XM_006720240.2:c.905A>G, XM_006720240.2:c.905A>C, XM_006720240.1:c.905A>G, XM_006720240.1:c.905A>C, XM_017021607.2:c.2771A>G, XM_017021607.2:c.2771A>C, XM_017021607.1:c.2771A>G, XM_017021607.1:c.2771A>C, XM_017021609.2:c.2753A>G, XM_017021609.2:c.2753A>C, XM_017021609.1:c.2753A>G, XM_017021609.1:c.2753A>C, XM_017021606.2:c.2774A>G, XM_017021606.2:c.2774A>C, XM_017021606.1:c.2774A>G, XM_017021606.1:c.2774A>C, XM_017021608.2:c.2756A>G, XM_017021608.2:c.2756A>C, XM_017021608.1:c.2756A>G, XM_017021608.1:c.2756A>C, XM_017021611.2:c.926A>G, XM_017021611.2:c.926A>C, XM_017021611.1:c.926A>G, XM_017021611.1:c.926A>C, NM_182933.1:c.*789A>G, NM_182933.1:c.*789A>C, XM_047431711.1:c.2753A>G, XM_047431711.1:c.2753A>C, NP_150287.1:p.Lys923Arg, NP_150287.1:p.Lys923Thr, NP_489479.1:p.Lys922Arg, NP_489479.1:p.Lys922Thr, NP_892114.1:p.Lys925Arg, NP_892114.1:p.Lys925Thr, NP_891977.1:p.Lys919Arg, NP_891977.1:p.Lys919Thr, NP_001123889.1:p.Lys296Arg, NP_001123889.1:p.Lys296Thr, NP_891981.1:p.Lys282Arg, NP_891981.1:p.Lys282Thr, XP_006720303.1:p.Lys302Arg, XP_006720303.1:p.Lys302Thr, XP_016877096.1:p.Lys924Arg, XP_016877096.1:p.Lys924Thr, XP_016877098.1:p.Lys918Arg, XP_016877098.1:p.Lys918Thr, XP_016877095.1:p.Lys925Arg, XP_016877095.1:p.Lys925Thr, XP_016877097.1:p.Lys919Arg, XP_016877097.1:p.Lys919Thr, XP_016877100.1:p.Lys309Arg, XP_016877100.1:p.Lys309Thr, XP_047287667.1:p.Lys918Arg, XP_047287667.1:p.Lys918Thr

                  9.

                  rs1469537497 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    14:70046077 (GRCh38)
                    14:70512794 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:70046076:G:A,NC_000014.9:70046076:G:C
                    Gene:
                    SLC8A3 (Varview)
                    Functional Consequence:
                    missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000014.9:g.70046077G>A, NC_000014.9:g.70046077G>C, NC_000014.8:g.70512794G>A, NC_000014.8:g.70512794G>C, NG_047080.1:g.182536C>T, NG_047080.1:g.182536C>G, NM_033262.5:c.2648C>T, NM_033262.5:c.2648C>G, NM_033262.4:c.2648C>T, NM_033262.4:c.2648C>G, NM_033262.3:c.2648C>T, NM_033262.3:c.2648C>G, NM_058240.4:c.2645C>T, NM_058240.4:c.2645C>G, NM_058240.3:c.2645C>T, NM_058240.3:c.2645C>G, NM_058240.2:c.2645C>T, NM_058240.2:c.2645C>G, NM_183002.3:c.2654C>T, NM_183002.3:c.2654C>G, NM_183002.2:c.2654C>T, NM_183002.2:c.2654C>G, NM_183002.1:c.2654C>T, NM_183002.1:c.2654C>G, NM_182932.3:c.2636C>T, NM_182932.3:c.2636C>G, NM_182932.2:c.2636C>T, NM_182932.2:c.2636C>G, NM_182932.1:c.2636C>T, NM_182932.1:c.2636C>G, NM_001130417.3:c.767C>T, NM_001130417.3:c.767C>G, NM_001130417.2:c.767C>T, NM_001130417.2:c.767C>G, NM_001130417.1:c.767C>T, NM_001130417.1:c.767C>G, NM_182936.3:c.725C>T, NM_182936.3:c.725C>G, NM_182936.2:c.725C>T, NM_182936.2:c.725C>G, NM_182936.1:c.725C>T, NM_182936.1:c.725C>G, NR_104122.2:n.3167C>T, NR_104122.2:n.3167C>G, NR_104122.1:n.3286C>T, NR_104122.1:n.3286C>G, XM_006720240.4:c.785C>T, XM_006720240.4:c.785C>G, XM_006720240.3:c.785C>T, XM_006720240.3:c.785C>G, XM_006720240.2:c.785C>T, XM_006720240.2:c.785C>G, XM_006720240.1:c.785C>T, XM_006720240.1:c.785C>G, XM_017021607.2:c.2651C>T, XM_017021607.2:c.2651C>G, XM_017021607.1:c.2651C>T, XM_017021607.1:c.2651C>G, XM_017021609.2:c.2633C>T, XM_017021609.2:c.2633C>G, XM_017021609.1:c.2633C>T, XM_017021609.1:c.2633C>G, XM_017021606.2:c.2654C>T, XM_017021606.2:c.2654C>G, XM_017021606.1:c.2654C>T, XM_017021606.1:c.2654C>G, XM_017021608.2:c.2636C>T, XM_017021608.2:c.2636C>G, XM_017021608.1:c.2636C>T, XM_017021608.1:c.2636C>G, XM_017021611.2:c.806C>T, XM_017021611.2:c.806C>G, XM_017021611.1:c.806C>T, XM_017021611.1:c.806C>G, NM_182933.1:c.*669C>T, NM_182933.1:c.*669C>G, XM_047431711.1:c.2633C>T, XM_047431711.1:c.2633C>G, NP_150287.1:p.Pro883Leu, NP_150287.1:p.Pro883Arg, NP_489479.1:p.Pro882Leu, NP_489479.1:p.Pro882Arg, NP_892114.1:p.Pro885Leu, NP_892114.1:p.Pro885Arg, NP_891977.1:p.Pro879Leu, NP_891977.1:p.Pro879Arg, NP_001123889.1:p.Pro256Leu, NP_001123889.1:p.Pro256Arg, NP_891981.1:p.Pro242Leu, NP_891981.1:p.Pro242Arg, XP_006720303.1:p.Pro262Leu, XP_006720303.1:p.Pro262Arg, XP_016877096.1:p.Pro884Leu, XP_016877096.1:p.Pro884Arg, XP_016877098.1:p.Pro878Leu, XP_016877098.1:p.Pro878Arg, XP_016877095.1:p.Pro885Leu, XP_016877095.1:p.Pro885Arg, XP_016877097.1:p.Pro879Leu, XP_016877097.1:p.Pro879Arg, XP_016877100.1:p.Pro269Leu, XP_016877100.1:p.Pro269Arg, XP_047287667.1:p.Pro878Leu, XP_047287667.1:p.Pro878Arg

                    10.

                    rs1468551887 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      14:70052043 (GRCh38)
                      14:70518760 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:70052042:A:G
                      Gene:
                      SLC8A3 (Varview)
                      Functional Consequence:
                      synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      G=0.000004/1 (TOPMED)
                      G=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000014.9:g.70052043A>G, NC_000014.8:g.70518760A>G, NG_047080.1:g.176570T>C, NM_033262.5:c.1972T>C, NM_033262.4:c.1972T>C, NM_033262.3:c.1972T>C, NM_058240.4:c.1969T>C, NM_058240.3:c.1969T>C, NM_058240.2:c.1969T>C, NM_183002.3:c.1978T>C, NM_183002.2:c.1978T>C, NM_183002.1:c.1978T>C, NM_182932.3:c.1960T>C, NM_182932.2:c.1960T>C, NM_182932.1:c.1960T>C, NM_001130417.3:c.91T>C, NM_001130417.2:c.91T>C, NM_001130417.1:c.91T>C, NM_182936.3:c.49T>C, NM_182936.2:c.49T>C, NM_182936.1:c.49T>C, NR_104122.2:n.2491T>C, NR_104122.1:n.2610T>C, XM_006720240.4:c.109T>C, XM_006720240.3:c.109T>C, XM_006720240.2:c.109T>C, XM_006720240.1:c.109T>C, XM_017021607.2:c.1978T>C, XM_017021607.1:c.1978T>C, XM_017021609.2:c.1960T>C, XM_017021609.1:c.1960T>C, XM_017021606.2:c.1978T>C, XM_017021606.1:c.1978T>C, XM_017021608.2:c.1960T>C, XM_017021608.1:c.1960T>C, XM_017021611.2:c.130T>C, XM_017021611.1:c.130T>C, NM_182933.1:c.1856T>C, XM_047431711.1:c.1960T>C

                      11.

                      rs1462961596 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        14:70051064 (GRCh38)
                        14:70517781 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:70051063:A:G
                        Gene:
                        SLC8A3 (Varview)
                        Functional Consequence:
                        missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        NC_000014.9:g.70051064A>G, NC_000014.8:g.70517781A>G, NG_047080.1:g.177549T>C, NM_033262.5:c.2069T>C, NM_033262.4:c.2069T>C, NM_033262.3:c.2069T>C, NM_058240.4:c.2066T>C, NM_058240.3:c.2066T>C, NM_058240.2:c.2066T>C, NM_183002.3:c.2075T>C, NM_183002.2:c.2075T>C, NM_183002.1:c.2075T>C, NM_182932.3:c.2057T>C, NM_182932.2:c.2057T>C, NM_182932.1:c.2057T>C, NM_001130417.3:c.188T>C, NM_001130417.2:c.188T>C, NM_001130417.1:c.188T>C, NM_182936.3:c.146T>C, NM_182936.2:c.146T>C, NM_182936.1:c.146T>C, NR_104122.2:n.2588T>C, NR_104122.1:n.2707T>C, XM_006720240.4:c.206T>C, XM_006720240.3:c.206T>C, XM_006720240.2:c.206T>C, XM_006720240.1:c.206T>C, XM_017021607.2:c.2075T>C, XM_017021607.1:c.2075T>C, XM_017021609.2:c.2057T>C, XM_017021609.1:c.2057T>C, XM_017021606.2:c.2075T>C, XM_017021606.1:c.2075T>C, XM_017021608.2:c.2057T>C, XM_017021608.1:c.2057T>C, XM_017021611.2:c.227T>C, XM_017021611.1:c.227T>C, NM_182933.1:c.*90T>C, XM_047431711.1:c.2057T>C, NP_150287.1:p.Val690Ala, NP_489479.1:p.Val689Ala, NP_892114.1:p.Val692Ala, NP_891977.1:p.Val686Ala, NP_001123889.1:p.Val63Ala, NP_891981.1:p.Val49Ala, XP_006720303.1:p.Val69Ala, XP_016877096.1:p.Val692Ala, XP_016877098.1:p.Val686Ala, XP_016877095.1:p.Val692Ala, XP_016877097.1:p.Val686Ala, XP_016877100.1:p.Val76Ala, XP_047287667.1:p.Val686Ala

                        12.

                        rs1458549559 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          14:70048781 (GRCh38)
                          14:70515498 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:70048780:C:A
                          Gene:
                          SLC8A3 (Varview)
                          Functional Consequence:
                          missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000014.9:g.70048781C>A, NC_000014.8:g.70515498C>A, NG_047080.1:g.179832G>T, NM_033262.5:c.2387G>T, NM_033262.4:c.2387G>T, NM_033262.3:c.2387G>T, NM_058240.4:c.2384G>T, NM_058240.3:c.2384G>T, NM_058240.2:c.2384G>T, NM_183002.3:c.2393G>T, NM_183002.2:c.2393G>T, NM_183002.1:c.2393G>T, NM_182932.3:c.2375G>T, NM_182932.2:c.2375G>T, NM_182932.1:c.2375G>T, NM_001130417.3:c.506G>T, NM_001130417.2:c.506G>T, NM_001130417.1:c.506G>T, NM_182936.3:c.464G>T, NM_182936.2:c.464G>T, NM_182936.1:c.464G>T, NR_104122.2:n.2906G>T, NR_104122.1:n.3025G>T, XM_006720240.4:c.524G>T, XM_006720240.3:c.524G>T, XM_006720240.2:c.524G>T, XM_006720240.1:c.524G>T, XM_017021607.2:c.2390G>T, XM_017021607.1:c.2390G>T, XM_017021609.2:c.2372G>T, XM_017021609.1:c.2372G>T, XM_017021606.2:c.2393G>T, XM_017021606.1:c.2393G>T, XM_017021608.2:c.2375G>T, XM_017021608.1:c.2375G>T, XM_017021611.2:c.545G>T, XM_017021611.1:c.545G>T, NM_182933.1:c.*408G>T, XM_047431711.1:c.2372G>T, NP_150287.1:p.Gly796Val, NP_489479.1:p.Gly795Val, NP_892114.1:p.Gly798Val, NP_891977.1:p.Gly792Val, NP_001123889.1:p.Gly169Val, NP_891981.1:p.Gly155Val, XP_006720303.1:p.Gly175Val, XP_016877096.1:p.Gly797Val, XP_016877098.1:p.Gly791Val, XP_016877095.1:p.Gly798Val, XP_016877097.1:p.Gly792Val, XP_016877100.1:p.Gly182Val, XP_047287667.1:p.Gly791Val

                          13.

                          rs1455266648 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            14:70046193 (GRCh38)
                            14:70512910 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:70046192:G:A
                            Gene:
                            SLC8A3 (Varview)
                            Functional Consequence:
                            synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_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_000014.9:g.70046193G>A, NC_000014.8:g.70512910G>A, NG_047080.1:g.182420C>T, NM_033262.5:c.2532C>T, NM_033262.4:c.2532C>T, NM_033262.3:c.2532C>T, NM_058240.4:c.2529C>T, NM_058240.3:c.2529C>T, NM_058240.2:c.2529C>T, NM_183002.3:c.2538C>T, NM_183002.2:c.2538C>T, NM_183002.1:c.2538C>T, NM_182932.3:c.2520C>T, NM_182932.2:c.2520C>T, NM_182932.1:c.2520C>T, NM_001130417.3:c.651C>T, NM_001130417.2:c.651C>T, NM_001130417.1:c.651C>T, NM_182936.3:c.609C>T, NM_182936.2:c.609C>T, NM_182936.1:c.609C>T, NR_104122.2:n.3051C>T, NR_104122.1:n.3170C>T, XM_006720240.4:c.669C>T, XM_006720240.3:c.669C>T, XM_006720240.2:c.669C>T, XM_006720240.1:c.669C>T, XM_017021607.2:c.2535C>T, XM_017021607.1:c.2535C>T, XM_017021609.2:c.2517C>T, XM_017021609.1:c.2517C>T, XM_017021606.2:c.2538C>T, XM_017021606.1:c.2538C>T, XM_017021608.2:c.2520C>T, XM_017021608.1:c.2520C>T, XM_017021611.2:c.690C>T, XM_017021611.1:c.690C>T, NM_182933.1:c.*553C>T, XM_047431711.1:c.2517C>T

                            14.

                            rs1440534410 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              14:70052018 (GRCh38)
                              14:70518735 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:70052017:A:G
                              Gene:
                              SLC8A3 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                              HGVS:
                              NC_000014.9:g.70052018A>G, NC_000014.8:g.70518735A>G, NG_047080.1:g.176595T>C, NM_033262.5:c.1997T>C, NM_033262.4:c.1997T>C, NM_033262.3:c.1997T>C, NM_058240.4:c.1994T>C, NM_058240.3:c.1994T>C, NM_058240.2:c.1994T>C, NM_183002.3:c.2003T>C, NM_183002.2:c.2003T>C, NM_183002.1:c.2003T>C, NM_182932.3:c.1985T>C, NM_182932.2:c.1985T>C, NM_182932.1:c.1985T>C, NM_001130417.3:c.116T>C, NM_001130417.2:c.116T>C, NM_001130417.1:c.116T>C, NM_182936.3:c.74T>C, NM_182936.2:c.74T>C, NM_182936.1:c.74T>C, NR_104122.2:n.2516T>C, NR_104122.1:n.2635T>C, XM_006720240.4:c.134T>C, XM_006720240.3:c.134T>C, XM_006720240.2:c.134T>C, XM_006720240.1:c.134T>C, XM_017021607.2:c.2003T>C, XM_017021607.1:c.2003T>C, XM_017021609.2:c.1985T>C, XM_017021609.1:c.1985T>C, XM_017021606.2:c.2003T>C, XM_017021606.1:c.2003T>C, XM_017021608.2:c.1985T>C, XM_017021608.1:c.1985T>C, XM_017021611.2:c.155T>C, XM_017021611.1:c.155T>C, NM_182933.1:c.*18T>C, XM_047431711.1:c.1985T>C, NP_150287.1:p.Val666Ala, NP_489479.1:p.Val665Ala, NP_892114.1:p.Val668Ala, NP_891977.1:p.Val662Ala, NP_001123889.1:p.Val39Ala, NP_891981.1:p.Val25Ala, XP_006720303.1:p.Val45Ala, XP_016877096.1:p.Val668Ala, XP_016877098.1:p.Val662Ala, XP_016877095.1:p.Val668Ala, XP_016877097.1:p.Val662Ala, XP_016877100.1:p.Val52Ala, XP_047287667.1:p.Val662Ala

                              15.

                              rs1438889980 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                14:70046084 (GRCh38)
                                14:70512801 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:70046083:T:G
                                Gene:
                                SLC8A3 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000014.9:g.70046084T>G, NC_000014.8:g.70512801T>G, NG_047080.1:g.182529A>C, NM_033262.5:c.2641A>C, NM_033262.4:c.2641A>C, NM_033262.3:c.2641A>C, NM_058240.4:c.2638A>C, NM_058240.3:c.2638A>C, NM_058240.2:c.2638A>C, NM_183002.3:c.2647A>C, NM_183002.2:c.2647A>C, NM_183002.1:c.2647A>C, NM_182932.3:c.2629A>C, NM_182932.2:c.2629A>C, NM_182932.1:c.2629A>C, NM_001130417.3:c.760A>C, NM_001130417.2:c.760A>C, NM_001130417.1:c.760A>C, NM_182936.3:c.718A>C, NM_182936.2:c.718A>C, NM_182936.1:c.718A>C, NR_104122.2:n.3160A>C, NR_104122.1:n.3279A>C, XM_006720240.4:c.778A>C, XM_006720240.3:c.778A>C, XM_006720240.2:c.778A>C, XM_006720240.1:c.778A>C, XM_017021607.2:c.2644A>C, XM_017021607.1:c.2644A>C, XM_017021609.2:c.2626A>C, XM_017021609.1:c.2626A>C, XM_017021606.2:c.2647A>C, XM_017021606.1:c.2647A>C, XM_017021608.2:c.2629A>C, XM_017021608.1:c.2629A>C, XM_017021611.2:c.799A>C, XM_017021611.1:c.799A>C, NM_182933.1:c.*662A>C, XM_047431711.1:c.2626A>C

                                16.

                                rs1436002154 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  14:70046283 (GRCh38)
                                  14:70513000 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:70046282:A:G
                                  Gene:
                                  SLC8A3 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_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_000014.9:g.70046283A>G, NC_000014.8:g.70513000A>G, NG_047080.1:g.182330T>C, NM_033262.5:c.2442T>C, NM_033262.4:c.2442T>C, NM_033262.3:c.2442T>C, NM_058240.4:c.2439T>C, NM_058240.3:c.2439T>C, NM_058240.2:c.2439T>C, NM_183002.3:c.2448T>C, NM_183002.2:c.2448T>C, NM_183002.1:c.2448T>C, NM_182932.3:c.2430T>C, NM_182932.2:c.2430T>C, NM_182932.1:c.2430T>C, NM_001130417.3:c.561T>C, NM_001130417.2:c.561T>C, NM_001130417.1:c.561T>C, NM_182936.3:c.519T>C, NM_182936.2:c.519T>C, NM_182936.1:c.519T>C, NR_104122.2:n.2961T>C, NR_104122.1:n.3080T>C, XM_006720240.4:c.579T>C, XM_006720240.3:c.579T>C, XM_006720240.2:c.579T>C, XM_006720240.1:c.579T>C, XM_017021607.2:c.2445T>C, XM_017021607.1:c.2445T>C, XM_017021609.2:c.2427T>C, XM_017021609.1:c.2427T>C, XM_017021606.2:c.2448T>C, XM_017021606.1:c.2448T>C, XM_017021608.2:c.2430T>C, XM_017021608.1:c.2430T>C, XM_017021611.2:c.600T>C, XM_017021611.1:c.600T>C, NM_182933.1:c.*463T>C, XM_047431711.1:c.2427T>C

                                  17.

                                  rs1434968541 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    14:70048860 (GRCh38)
                                    14:70515577 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:70048859:T:A
                                    Gene:
                                    SLC8A3 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000014.9:g.70048860T>A, NC_000014.8:g.70515577T>A, NG_047080.1:g.179753A>T, NM_033262.5:c.2308A>T, NM_033262.4:c.2308A>T, NM_033262.3:c.2308A>T, NM_058240.4:c.2305A>T, NM_058240.3:c.2305A>T, NM_058240.2:c.2305A>T, NM_183002.3:c.2314A>T, NM_183002.2:c.2314A>T, NM_183002.1:c.2314A>T, NM_182932.3:c.2296A>T, NM_182932.2:c.2296A>T, NM_182932.1:c.2296A>T, NM_001130417.3:c.427A>T, NM_001130417.2:c.427A>T, NM_001130417.1:c.427A>T, NM_182936.3:c.385A>T, NM_182936.2:c.385A>T, NM_182936.1:c.385A>T, NR_104122.2:n.2827A>T, NR_104122.1:n.2946A>T, XM_006720240.4:c.445A>T, XM_006720240.3:c.445A>T, XM_006720240.2:c.445A>T, XM_006720240.1:c.445A>T, XM_017021607.2:c.2311A>T, XM_017021607.1:c.2311A>T, XM_017021609.2:c.2293A>T, XM_017021609.1:c.2293A>T, XM_017021606.2:c.2314A>T, XM_017021606.1:c.2314A>T, XM_017021608.2:c.2296A>T, XM_017021608.1:c.2296A>T, XM_017021611.2:c.466A>T, XM_017021611.1:c.466A>T, NM_182933.1:c.*329A>T, XM_047431711.1:c.2293A>T, NP_150287.1:p.Ile770Phe, NP_489479.1:p.Ile769Phe, NP_892114.1:p.Ile772Phe, NP_891977.1:p.Ile766Phe, NP_001123889.1:p.Ile143Phe, NP_891981.1:p.Ile129Phe, XP_006720303.1:p.Ile149Phe, XP_016877096.1:p.Ile771Phe, XP_016877098.1:p.Ile765Phe, XP_016877095.1:p.Ile772Phe, XP_016877097.1:p.Ile766Phe, XP_016877100.1:p.Ile156Phe, XP_047287667.1:p.Ile765Phe

                                    18.

                                    rs1433629321 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      14:70052061 (GRCh38)
                                      14:70518778 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:70052060:C:G
                                      Gene:
                                      SLC8A3 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000014.9:g.70052061C>G, NC_000014.8:g.70518778C>G, NG_047080.1:g.176552G>C, NM_033262.5:c.1954G>C, NM_033262.4:c.1954G>C, NM_033262.3:c.1954G>C, NM_058240.4:c.1951G>C, NM_058240.3:c.1951G>C, NM_058240.2:c.1951G>C, NM_183002.3:c.1960G>C, NM_183002.2:c.1960G>C, NM_183002.1:c.1960G>C, NM_182932.3:c.1942G>C, NM_182932.2:c.1942G>C, NM_182932.1:c.1942G>C, NM_001130417.3:c.73G>C, NM_001130417.2:c.73G>C, NM_001130417.1:c.73G>C, NM_182936.3:c.31G>C, NM_182936.2:c.31G>C, NM_182936.1:c.31G>C, NR_104122.2:n.2473G>C, NR_104122.1:n.2592G>C, XM_006720240.4:c.91G>C, XM_006720240.3:c.91G>C, XM_006720240.2:c.91G>C, XM_006720240.1:c.91G>C, XM_017021607.2:c.1960G>C, XM_017021607.1:c.1960G>C, XM_017021609.2:c.1942G>C, XM_017021609.1:c.1942G>C, XM_017021606.2:c.1960G>C, XM_017021606.1:c.1960G>C, XM_017021608.2:c.1942G>C, XM_017021608.1:c.1942G>C, XM_017021611.2:c.112G>C, XM_017021611.1:c.112G>C, NM_182933.1:c.1838G>C, XM_047431711.1:c.1942G>C, NP_150287.1:p.Glu652Gln, NP_489479.1:p.Glu651Gln, NP_892114.1:p.Glu654Gln, NP_891977.1:p.Glu648Gln, NP_001123889.1:p.Glu25Gln, NP_891981.1:p.Glu11Gln, XP_006720303.1:p.Glu31Gln, XP_016877096.1:p.Glu654Gln, XP_016877098.1:p.Glu648Gln, XP_016877095.1:p.Glu654Gln, XP_016877097.1:p.Glu648Gln, XP_016877100.1:p.Glu38Gln, XP_047287667.1:p.Glu648Gln

                                      19.

                                      rs1433012694 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->GTG [Show Flanks]
                                        Chromosome:
                                        14:70045978 (GRCh38)
                                        14:70512696 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:70045978:GTG:GTGGTG
                                        Gene:
                                        SLC8A3 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,inframe_insertion
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        GTGGTG=0./0 (ALFA)
                                        GTG=0.000007/1 (GnomAD)
                                        GTG=0.000011/3 (TOPMED)
                                        GTG=0.00008/1 (GoESP)
                                        HGVS:
                                        NC_000014.9:g.70045979_70045981dup, NC_000014.8:g.70512696_70512698dup, NG_047080.1:g.182632_182634dup, NM_033262.5:c.2744_2746dup, NM_033262.4:c.2744_2746dup, NM_033262.3:c.2744_2746dup, NM_058240.4:c.2741_2743dup, NM_058240.3:c.2741_2743dup, NM_058240.2:c.2741_2743dup, NM_183002.3:c.2750_2752dup, NM_183002.2:c.2750_2752dup, NM_183002.1:c.2750_2752dup, NM_182932.3:c.2732_2734dup, NM_182932.2:c.2732_2734dup, NM_182932.1:c.2732_2734dup, NM_001130417.3:c.863_865dup, NM_001130417.2:c.863_865dup, NM_001130417.1:c.863_865dup, NM_182936.3:c.821_823dup, NM_182936.2:c.821_823dup, NM_182936.1:c.821_823dup, NR_104122.2:n.3263_3265dup, NR_104122.1:n.3382_3384dup, XM_006720240.4:c.881_883dup, XM_006720240.3:c.881_883dup, XM_006720240.2:c.881_883dup, XM_006720240.1:c.881_883dup, XM_017021607.2:c.2747_2749dup, XM_017021607.1:c.2747_2749dup, XM_017021609.2:c.2729_2731dup, XM_017021609.1:c.2729_2731dup, XM_017021606.2:c.2750_2752dup, XM_017021606.1:c.2750_2752dup, XM_017021608.2:c.2732_2734dup, XM_017021608.1:c.2732_2734dup, XM_017021611.2:c.902_904dup, XM_017021611.1:c.902_904dup, NM_182933.1:c.*765_*767dup, XM_047431711.1:c.2729_2731dup, NP_150287.1:p.Leu916_Glu917insPro, NP_489479.1:p.Leu915_Glu916insPro, NP_892114.1:p.Leu918_Glu919insPro, NP_891977.1:p.Leu912_Glu913insPro, NP_001123889.1:p.Leu289_Glu290insPro, NP_891981.1:p.Leu275_Glu276insPro, XP_006720303.1:p.Leu295_Glu296insPro, XP_016877096.1:p.Leu917_Glu918insPro, XP_016877098.1:p.Leu911_Glu912insPro, XP_016877095.1:p.Leu918_Glu919insPro, XP_016877097.1:p.Leu912_Glu913insPro, XP_016877100.1:p.Leu302_Glu303insPro, XP_047287667.1:p.Leu911_Glu912insPro

                                        20.

                                        rs1432770305 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          14:70046266 (GRCh38)
                                          14:70512983 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:70046265:C:G
                                          Gene:
                                          SLC8A3 (Varview)
                                          Functional Consequence:
                                          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000014.9:g.70046266C>G, NC_000014.8:g.70512983C>G, NG_047080.1:g.182347G>C, NM_033262.5:c.2459G>C, NM_033262.4:c.2459G>C, NM_033262.3:c.2459G>C, NM_058240.4:c.2456G>C, NM_058240.3:c.2456G>C, NM_058240.2:c.2456G>C, NM_183002.3:c.2465G>C, NM_183002.2:c.2465G>C, NM_183002.1:c.2465G>C, NM_182932.3:c.2447G>C, NM_182932.2:c.2447G>C, NM_182932.1:c.2447G>C, NM_001130417.3:c.578G>C, NM_001130417.2:c.578G>C, NM_001130417.1:c.578G>C, NM_182936.3:c.536G>C, NM_182936.2:c.536G>C, NM_182936.1:c.536G>C, NR_104122.2:n.2978G>C, NR_104122.1:n.3097G>C, XM_006720240.4:c.596G>C, XM_006720240.3:c.596G>C, XM_006720240.2:c.596G>C, XM_006720240.1:c.596G>C, XM_017021607.2:c.2462G>C, XM_017021607.1:c.2462G>C, XM_017021609.2:c.2444G>C, XM_017021609.1:c.2444G>C, XM_017021606.2:c.2465G>C, XM_017021606.1:c.2465G>C, XM_017021608.2:c.2447G>C, XM_017021608.1:c.2447G>C, XM_017021611.2:c.617G>C, XM_017021611.1:c.617G>C, NM_182933.1:c.*480G>C, XM_047431711.1:c.2444G>C, NP_150287.1:p.Gly820Ala, NP_489479.1:p.Gly819Ala, NP_892114.1:p.Gly822Ala, NP_891977.1:p.Gly816Ala, NP_001123889.1:p.Gly193Ala, NP_891981.1:p.Gly179Ala, XP_006720303.1:p.Gly199Ala, XP_016877096.1:p.Gly821Ala, XP_016877098.1:p.Gly815Ala, XP_016877095.1:p.Gly822Ala, XP_016877097.1:p.Gly816Ala, XP_016877100.1:p.Gly206Ala, XP_047287667.1:p.Gly815Ala

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