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Items: 1 to 20 of 942

1.

rs1490850670 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    11:70153123 (GRCh38)
    11:69999229 (GRCh37)
    Canonical SPDI:
    NC_000011.10:70153122:A:C
    Gene:
    ANO1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    HGVS:
    NC_000011.10:g.70153123A>C, NC_000011.9:g.69999229A>C, NM_018043.7:c.1420A>C, NM_018043.6:c.1420A>C, NM_018043.5:c.1420A>C, XM_011545123.3:c.1483A>C, XM_011545123.2:c.1483A>C, XM_011545123.1:c.1483A>C, XM_011545124.3:c.1474A>C, XM_011545124.2:c.1474A>C, XM_011545124.1:c.1474A>C, XM_006718602.3:c.1402A>C, XM_006718602.2:c.1402A>C, XM_006718602.1:c.1402A>C, XM_011545129.3:c.1399A>C, XM_011545129.2:c.1399A>C, XM_011545129.1:c.1399A>C, XM_011545127.3:c.1420A>C, XM_011545127.2:c.1420A>C, XM_011545127.1:c.1420A>C, XM_011545131.3:c.1324A>C, XM_011545131.2:c.1324A>C, XM_011545131.1:c.1324A>C, NM_001378095.2:c.1486A>C, NM_001378095.1:c.1486A>C, NM_001378094.2:c.1408A>C, NM_001378094.1:c.1408A>C, NM_001378096.2:c.1408A>C, NM_001378096.1:c.1408A>C, NM_001378097.2:c.1321A>C, NM_001378097.1:c.1321A>C, NR_030691.2:n.1553A>C, NR_030691.1:n.1561A>C, XM_047427185.1:c.1555A>C, NM_001378092.1:c.1609A>C, XM_047427181.1:c.1597A>C, XM_047427183.1:c.1486A>C, XM_047427184.1:c.1531A>C, XM_047427182.1:c.1486A>C, XM_047427186.1:c.1420A>C, NM_001378093.1:c.1408A>C, XM_047427187.1:c.625A>C, NP_060513.5:p.Lys474Gln, XP_011543425.1:p.Lys495Gln, XP_011543426.1:p.Lys492Gln, XP_006718665.1:p.Lys468Gln, XP_011543431.1:p.Lys467Gln, XP_011543429.1:p.Lys474Gln, XP_011543433.1:p.Lys442Gln, NP_001365024.1:p.Lys496Gln, NP_001365023.1:p.Lys470Gln, NP_001365025.1:p.Lys470Gln, NP_001365026.1:p.Lys441Gln, XP_047283141.1:p.Lys519Gln, NP_001365021.1:p.Lys537Gln, XP_047283137.1:p.Lys533Gln, XP_047283139.1:p.Lys496Gln, XP_047283140.1:p.Lys511Gln, XP_047283138.1:p.Lys496Gln, XP_047283142.1:p.Lys474Gln, NP_001365022.1:p.Lys470Gln, XP_047283143.1:p.Lys209Gln
    2.

    rs1490746293 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      11:70187802 (GRCh38)
      11:70033908 (GRCh37)
      Canonical SPDI:
      NC_000011.10:70187801:G:C
      Gene:
      ANO1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      HGVS:
      NC_000011.10:g.70187802G>C, NC_000011.9:g.70033908G>C, NM_018043.7:c.2759G>C, NM_018043.6:c.2759G>C, NM_018043.5:c.2759G>C, XM_011545123.3:c.2822G>C, XM_011545123.2:c.2822G>C, XM_011545123.1:c.2822G>C, XM_011545124.3:c.2813G>C, XM_011545124.2:c.2813G>C, XM_011545124.1:c.2813G>C, XM_006718602.3:c.2741G>C, XM_006718602.2:c.2741G>C, XM_006718602.1:c.2741G>C, XM_011545129.3:c.2738G>C, XM_011545129.2:c.2738G>C, XM_011545129.1:c.2738G>C, XM_011545127.3:c.2681G>C, XM_011545127.2:c.2681G>C, XM_011545127.1:c.2681G>C, NM_001378095.2:c.2747G>C, NM_001378095.1:c.2747G>C, NM_001378094.2:c.2747G>C, NM_001378094.1:c.2747G>C, NM_001378096.2:c.2669G>C, NM_001378096.1:c.2669G>C, NM_001378097.2:c.2582G>C, NM_001378097.1:c.2582G>C, NR_030691.2:n.2814G>C, NR_030691.1:n.2822G>C, XM_047427185.1:c.2816G>C, NM_001378092.1:c.2948G>C, XM_047427181.1:c.2858G>C, XM_047427183.1:c.2825G>C, XM_047427184.1:c.2792G>C, XM_047427182.1:c.2825G>C, XM_047427186.1:c.2759G>C, NM_001378093.1:c.2747G>C, XM_047427187.1:c.1964G>C, NP_060513.5:p.Ser920Thr, XP_011543425.1:p.Ser941Thr, XP_011543426.1:p.Ser938Thr, XP_006718665.1:p.Ser914Thr, XP_011543431.1:p.Ser913Thr, XP_011543429.1:p.Ser894Thr, NP_001365024.1:p.Ser916Thr, NP_001365023.1:p.Ser916Thr, NP_001365025.1:p.Ser890Thr, NP_001365026.1:p.Ser861Thr, XP_047283141.1:p.Ser939Thr, NP_001365021.1:p.Ser983Thr, XP_047283137.1:p.Ser953Thr, XP_047283139.1:p.Ser942Thr, XP_047283140.1:p.Ser931Thr, XP_047283138.1:p.Ser942Thr, XP_047283142.1:p.Ser920Thr, NP_001365022.1:p.Ser916Thr, XP_047283143.1:p.Ser655Thr
      3.

      rs1489929108 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        11:70161246 (GRCh38)
        11:70007352 (GRCh37)
        Canonical SPDI:
        NC_000011.10:70161245:C:T
        Gene:
        ANO1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000011.10:g.70161246C>T, NC_000011.9:g.70007352C>T, NM_018043.7:c.1664C>T, NM_018043.6:c.1664C>T, NM_018043.5:c.1664C>T, XM_011545123.3:c.1727C>T, XM_011545123.2:c.1727C>T, XM_011545123.1:c.1727C>T, XM_011545124.3:c.1718C>T, XM_011545124.2:c.1718C>T, XM_011545124.1:c.1718C>T, XM_006718602.3:c.1646C>T, XM_006718602.2:c.1646C>T, XM_006718602.1:c.1646C>T, XM_011545129.3:c.1643C>T, XM_011545129.2:c.1643C>T, XM_011545129.1:c.1643C>T, XM_011545127.3:c.1586C>T, XM_011545127.2:c.1586C>T, XM_011545127.1:c.1586C>T, XM_011545131.3:c.1490C>T, XM_011545131.2:c.1490C>T, XM_011545131.1:c.1490C>T, NM_001378095.2:c.1652C>T, NM_001378095.1:c.1652C>T, NM_001378094.2:c.1652C>T, NM_001378094.1:c.1652C>T, NM_001378096.2:c.1574C>T, NM_001378096.1:c.1574C>T, NM_001378097.2:c.1487C>T, NM_001378097.1:c.1487C>T, NR_030691.2:n.1719C>T, NR_030691.1:n.1727C>T, XM_047427185.1:c.1721C>T, NM_001378092.1:c.1853C>T, XM_047427181.1:c.1763C>T, XM_047427183.1:c.1730C>T, XM_047427184.1:c.1697C>T, XM_047427182.1:c.1730C>T, XM_047427186.1:c.1664C>T, NM_001378093.1:c.1652C>T, XM_047427187.1:c.869C>T, NP_060513.5:p.Ser555Phe, XP_011543425.1:p.Ser576Phe, XP_011543426.1:p.Ser573Phe, XP_006718665.1:p.Ser549Phe, XP_011543431.1:p.Ser548Phe, XP_011543429.1:p.Ser529Phe, XP_011543433.1:p.Ser497Phe, NP_001365024.1:p.Ser551Phe, NP_001365023.1:p.Ser551Phe, NP_001365025.1:p.Ser525Phe, NP_001365026.1:p.Ser496Phe, XP_047283141.1:p.Ser574Phe, NP_001365021.1:p.Ser618Phe, XP_047283137.1:p.Ser588Phe, XP_047283139.1:p.Ser577Phe, XP_047283140.1:p.Ser566Phe, XP_047283138.1:p.Ser577Phe, XP_047283142.1:p.Ser555Phe, NP_001365022.1:p.Ser551Phe, XP_047283143.1:p.Ser290Phe
        5.

        rs1489521496 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          11:70088073 (GRCh38)
          11:69934179 (GRCh37)
          Canonical SPDI:
          NC_000011.10:70088072:C:T
          Gene:
          ANO1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency,by cluster
          MAF:
          T=0.00004/1 (TOMMO)
          HGVS:
          NC_000011.10:g.70088073C>T, NC_000011.9:g.69934179C>T, NM_018043.7:c.430C>T, NM_018043.6:c.430C>T, NM_018043.5:c.430C>T, XM_011545123.3:c.430C>T, XM_011545123.2:c.430C>T, XM_011545123.1:c.430C>T, XM_011545124.3:c.430C>T, XM_011545124.2:c.430C>T, XM_011545124.1:c.430C>T, XM_006718602.3:c.346C>T, XM_006718602.2:c.346C>T, XM_006718602.1:c.346C>T, XM_011545129.3:c.343C>T, XM_011545129.2:c.343C>T, XM_011545129.1:c.343C>T, XM_011545127.3:c.430C>T, XM_011545127.2:c.430C>T, XM_011545127.1:c.430C>T, XM_011545131.3:c.346C>T, XM_011545131.2:c.346C>T, XM_011545131.1:c.346C>T, NM_001378095.2:c.430C>T, NM_001378095.1:c.430C>T, NM_001378094.2:c.430C>T, NM_001378094.1:c.430C>T, NM_001378096.2:c.430C>T, NM_001378096.1:c.430C>T, NM_001378097.2:c.430C>T, NM_001378097.1:c.430C>T, NR_030691.2:n.575C>T, NR_030691.1:n.583C>T, XM_047427185.1:c.577C>T, NM_001378092.1:c.553C>T, XM_047427181.1:c.553C>T, XM_047427183.1:c.430C>T, XM_047427184.1:c.553C>T, XM_047427182.1:c.430C>T, XM_047427186.1:c.430C>T, NM_001378093.1:c.430C>T, NP_060513.5:p.Arg144Trp, XP_011543425.1:p.Arg144Trp, XP_011543426.1:p.Arg144Trp, XP_006718665.1:p.Arg116Trp, XP_011543431.1:p.Arg115Trp, XP_011543429.1:p.Arg144Trp, XP_011543433.1:p.Arg116Trp, NP_001365024.1:p.Arg144Trp, NP_001365023.1:p.Arg144Trp, NP_001365025.1:p.Arg144Trp, NP_001365026.1:p.Arg144Trp, XP_047283141.1:p.Arg193Trp, NP_001365021.1:p.Arg185Trp, XP_047283137.1:p.Arg185Trp, XP_047283139.1:p.Arg144Trp, XP_047283140.1:p.Arg185Trp, XP_047283138.1:p.Arg144Trp, XP_047283142.1:p.Arg144Trp, NP_001365022.1:p.Arg144Trp
          6.

          rs1489489818 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C,T [Show Flanks]
            Chromosome:
            11:70078612 (GRCh38)
            11:69924718 (GRCh37)
            Canonical SPDI:
            NC_000011.10:70078611:G:C,NC_000011.10:70078611:G:T
            Gene:
            ANO1 (Varview)
            Functional Consequence:
            missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            T=0.000005/1 (GnomAD_exomes)
            HGVS:
            NC_000011.10:g.70078612G>C, NC_000011.10:g.70078612G>T, NC_000011.9:g.69924718G>C, NC_000011.9:g.69924718G>T, NM_018043.7:c.6G>C, NM_018043.7:c.6G>T, NM_018043.6:c.6G>C, NM_018043.6:c.6G>T, NM_018043.5:c.6G>C, NM_018043.5:c.6G>T, XM_011545123.3:c.6G>C, XM_011545123.3:c.6G>T, XM_011545123.2:c.6G>C, XM_011545123.2:c.6G>T, XM_011545123.1:c.6G>C, XM_011545123.1:c.6G>T, XM_011545124.3:c.6G>C, XM_011545124.3:c.6G>T, XM_011545124.2:c.6G>C, XM_011545124.2:c.6G>T, XM_011545124.1:c.6G>C, XM_011545124.1:c.6G>T, XM_011545127.3:c.6G>C, XM_011545127.3:c.6G>T, XM_011545127.2:c.6G>C, XM_011545127.2:c.6G>T, XM_011545127.1:c.6G>C, XM_011545127.1:c.6G>T, NM_001378095.2:c.6G>C, NM_001378095.2:c.6G>T, NM_001378095.1:c.6G>C, NM_001378095.1:c.6G>T, NM_001378094.2:c.6G>C, NM_001378094.2:c.6G>T, NM_001378094.1:c.6G>C, NM_001378094.1:c.6G>T, NM_001378096.2:c.6G>C, NM_001378096.2:c.6G>T, NM_001378096.1:c.6G>C, NM_001378096.1:c.6G>T, NM_001378097.2:c.6G>C, NM_001378097.2:c.6G>T, NM_001378097.1:c.6G>C, NM_001378097.1:c.6G>T, XM_047427185.1:c.153G>C, XM_047427185.1:c.153G>T, NM_001378092.1:c.129G>C, NM_001378092.1:c.129G>T, XM_047427181.1:c.129G>C, XM_047427181.1:c.129G>T, XM_047427183.1:c.6G>C, XM_047427183.1:c.6G>T, XM_047427184.1:c.129G>C, XM_047427184.1:c.129G>T, XM_047427182.1:c.6G>C, XM_047427182.1:c.6G>T, XM_047427186.1:c.6G>C, XM_047427186.1:c.6G>T, NM_001378093.1:c.6G>C, NM_001378093.1:c.6G>T, NP_060513.5:p.Arg2Ser, NP_060513.5:p.Arg2Ser, XP_011543425.1:p.Arg2Ser, XP_011543425.1:p.Arg2Ser, XP_011543426.1:p.Arg2Ser, XP_011543426.1:p.Arg2Ser, XP_011543429.1:p.Arg2Ser, XP_011543429.1:p.Arg2Ser, NP_001365024.1:p.Arg2Ser, NP_001365024.1:p.Arg2Ser, NP_001365023.1:p.Arg2Ser, NP_001365023.1:p.Arg2Ser, NP_001365025.1:p.Arg2Ser, NP_001365025.1:p.Arg2Ser, NP_001365026.1:p.Arg2Ser, NP_001365026.1:p.Arg2Ser, XP_047283141.1:p.Arg51Ser, XP_047283141.1:p.Arg51Ser, NP_001365021.1:p.Arg43Ser, NP_001365021.1:p.Arg43Ser, XP_047283137.1:p.Arg43Ser, XP_047283137.1:p.Arg43Ser, XP_047283139.1:p.Arg2Ser, XP_047283139.1:p.Arg2Ser, XP_047283140.1:p.Arg43Ser, XP_047283140.1:p.Arg43Ser, XP_047283138.1:p.Arg2Ser, XP_047283138.1:p.Arg2Ser, XP_047283142.1:p.Arg2Ser, XP_047283142.1:p.Arg2Ser, NP_001365022.1:p.Arg2Ser, NP_001365022.1:p.Arg2Ser
            7.

            rs1489451483 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              11:70149737 (GRCh38)
              11:69995843 (GRCh37)
              Canonical SPDI:
              NC_000011.10:70149736:G:A
              Gene:
              ANO1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              A=0.000012/3 (GnomAD_exomes)
              HGVS:
              NC_000011.10:g.70149737G>A, NC_000011.9:g.69995843G>A, NM_018043.7:c.1286G>A, NM_018043.6:c.1286G>A, NM_018043.5:c.1286G>A, XM_011545123.3:c.1352G>A, XM_011545123.2:c.1352G>A, XM_011545123.1:c.1352G>A, XM_011545124.3:c.1352G>A, XM_011545124.2:c.1352G>A, XM_011545124.1:c.1352G>A, XM_006718602.3:c.1268G>A, XM_006718602.2:c.1268G>A, XM_006718602.1:c.1268G>A, XM_011545129.3:c.1265G>A, XM_011545129.2:c.1265G>A, XM_011545129.1:c.1265G>A, XM_011545127.3:c.1286G>A, XM_011545127.2:c.1286G>A, XM_011545127.1:c.1286G>A, XM_011545131.3:c.1202G>A, XM_011545131.2:c.1202G>A, XM_011545131.1:c.1202G>A, NM_001378095.2:c.1352G>A, NM_001378095.1:c.1352G>A, NM_001378094.2:c.1286G>A, NM_001378094.1:c.1286G>A, NM_001378096.2:c.1286G>A, NM_001378096.1:c.1286G>A, NM_001378097.2:c.1187G>A, NM_001378097.1:c.1187G>A, NR_030691.2:n.1431G>A, NR_030691.1:n.1439G>A, XM_047427185.1:c.1433G>A, NM_001378092.1:c.1475G>A, XM_047427181.1:c.1475G>A, XM_047427183.1:c.1352G>A, XM_047427184.1:c.1409G>A, XM_047427182.1:c.1352G>A, XM_047427186.1:c.1286G>A, NM_001378093.1:c.1286G>A, XM_047427187.1:c.491G>A, NP_060513.5:p.Arg429Gln, XP_011543425.1:p.Arg451Gln, XP_011543426.1:p.Arg451Gln, XP_006718665.1:p.Arg423Gln, XP_011543431.1:p.Arg422Gln, XP_011543429.1:p.Arg429Gln, XP_011543433.1:p.Arg401Gln, NP_001365024.1:p.Arg451Gln, NP_001365023.1:p.Arg429Gln, NP_001365025.1:p.Arg429Gln, NP_001365026.1:p.Arg396Gln, XP_047283141.1:p.Arg478Gln, NP_001365021.1:p.Arg492Gln, XP_047283137.1:p.Arg492Gln, XP_047283139.1:p.Arg451Gln, XP_047283140.1:p.Arg470Gln, XP_047283138.1:p.Arg451Gln, XP_047283142.1:p.Arg429Gln, NP_001365022.1:p.Arg429Gln, XP_047283143.1:p.Arg164Gln
              8.

              rs1487690674 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                11:70187825 (GRCh38)
                11:70033931 (GRCh37)
                Canonical SPDI:
                NC_000011.10:70187824:G:C
                Gene:
                ANO1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000011.10:g.70187825G>C, NC_000011.9:g.70033931G>C, NM_018043.7:c.2782G>C, NM_018043.6:c.2782G>C, NM_018043.5:c.2782G>C, XM_011545123.3:c.2845G>C, XM_011545123.2:c.2845G>C, XM_011545123.1:c.2845G>C, XM_011545124.3:c.2836G>C, XM_011545124.2:c.2836G>C, XM_011545124.1:c.2836G>C, XM_006718602.3:c.2764G>C, XM_006718602.2:c.2764G>C, XM_006718602.1:c.2764G>C, XM_011545129.3:c.2761G>C, XM_011545129.2:c.2761G>C, XM_011545129.1:c.2761G>C, XM_011545127.3:c.2704G>C, XM_011545127.2:c.2704G>C, XM_011545127.1:c.2704G>C, NM_001378095.2:c.2770G>C, NM_001378095.1:c.2770G>C, NM_001378094.2:c.2770G>C, NM_001378094.1:c.2770G>C, NM_001378096.2:c.2692G>C, NM_001378096.1:c.2692G>C, NM_001378097.2:c.2605G>C, NM_001378097.1:c.2605G>C, NR_030691.2:n.2837G>C, NR_030691.1:n.2845G>C, XM_047427185.1:c.2839G>C, NM_001378092.1:c.2971G>C, XM_047427181.1:c.2881G>C, XM_047427183.1:c.2848G>C, XM_047427184.1:c.2815G>C, XM_047427182.1:c.2848G>C, XM_047427186.1:c.2782G>C, NM_001378093.1:c.2770G>C, XM_047427187.1:c.1987G>C, NP_060513.5:p.Val928Leu, XP_011543425.1:p.Val949Leu, XP_011543426.1:p.Val946Leu, XP_006718665.1:p.Val922Leu, XP_011543431.1:p.Val921Leu, XP_011543429.1:p.Val902Leu, NP_001365024.1:p.Val924Leu, NP_001365023.1:p.Val924Leu, NP_001365025.1:p.Val898Leu, NP_001365026.1:p.Val869Leu, XP_047283141.1:p.Val947Leu, NP_001365021.1:p.Val991Leu, XP_047283137.1:p.Val961Leu, XP_047283139.1:p.Val950Leu, XP_047283140.1:p.Val939Leu, XP_047283138.1:p.Val950Leu, XP_047283142.1:p.Val928Leu, NP_001365022.1:p.Val924Leu, XP_047283143.1:p.Val663Leu
                9.

                rs1487065155 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G,T [Show Flanks]
                  Chromosome:
                  11:70104146 (GRCh38)
                  11:69950252 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:70104145:C:A,NC_000011.10:70104145:C:G,NC_000011.10:70104145:C:T
                  Gene:
                  ANO1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.00003/1 (ALFA)
                  HGVS:
                  NC_000011.10:g.70104146C>A, NC_000011.10:g.70104146C>G, NC_000011.10:g.70104146C>T, NC_000011.9:g.69950252C>A, NC_000011.9:g.69950252C>G, NC_000011.9:g.69950252C>T, NM_018043.7:c.688C>A, NM_018043.7:c.688C>G, NM_018043.7:c.688C>T, NM_018043.6:c.688C>A, NM_018043.6:c.688C>G, NM_018043.6:c.688C>T, NM_018043.5:c.688C>A, NM_018043.5:c.688C>G, NM_018043.5:c.688C>T, XM_011545123.3:c.688C>A, XM_011545123.3:c.688C>G, XM_011545123.3:c.688C>T, XM_011545123.2:c.688C>A, XM_011545123.2:c.688C>G, XM_011545123.2:c.688C>T, XM_011545123.1:c.688C>A, XM_011545123.1:c.688C>G, XM_011545123.1:c.688C>T, XM_011545124.3:c.688C>A, XM_011545124.3:c.688C>G, XM_011545124.3:c.688C>T, XM_011545124.2:c.688C>A, XM_011545124.2:c.688C>G, XM_011545124.2:c.688C>T, XM_011545124.1:c.688C>A, XM_011545124.1:c.688C>G, XM_011545124.1:c.688C>T, XM_006718602.3:c.604C>A, XM_006718602.3:c.604C>G, XM_006718602.3:c.604C>T, XM_006718602.2:c.604C>A, XM_006718602.2:c.604C>G, XM_006718602.2:c.604C>T, XM_006718602.1:c.604C>A, XM_006718602.1:c.604C>G, XM_006718602.1:c.604C>T, XM_011545129.3:c.601C>A, XM_011545129.3:c.601C>G, XM_011545129.3:c.601C>T, XM_011545129.2:c.601C>A, XM_011545129.2:c.601C>G, XM_011545129.2:c.601C>T, XM_011545129.1:c.601C>A, XM_011545129.1:c.601C>G, XM_011545129.1:c.601C>T, XM_011545127.3:c.688C>A, XM_011545127.3:c.688C>G, XM_011545127.3:c.688C>T, XM_011545127.2:c.688C>A, XM_011545127.2:c.688C>G, XM_011545127.2:c.688C>T, XM_011545127.1:c.688C>A, XM_011545127.1:c.688C>G, XM_011545127.1:c.688C>T, XM_011545131.3:c.604C>A, XM_011545131.3:c.604C>G, XM_011545131.3:c.604C>T, XM_011545131.2:c.604C>A, XM_011545131.2:c.604C>G, XM_011545131.2:c.604C>T, XM_011545131.1:c.604C>A, XM_011545131.1:c.604C>G, XM_011545131.1:c.604C>T, NM_001378095.2:c.688C>A, NM_001378095.2:c.688C>G, NM_001378095.2:c.688C>T, NM_001378095.1:c.688C>A, NM_001378095.1:c.688C>G, NM_001378095.1:c.688C>T, NM_001378094.2:c.688C>A, NM_001378094.2:c.688C>G, NM_001378094.2:c.688C>T, NM_001378094.1:c.688C>A, NM_001378094.1:c.688C>G, NM_001378094.1:c.688C>T, NM_001378096.2:c.688C>A, NM_001378096.2:c.688C>G, NM_001378096.2:c.688C>T, NM_001378096.1:c.688C>A, NM_001378096.1:c.688C>G, NM_001378096.1:c.688C>T, NM_001378097.2:c.589C>A, NM_001378097.2:c.589C>G, NM_001378097.2:c.589C>T, NM_001378097.1:c.589C>A, NM_001378097.1:c.589C>G, NM_001378097.1:c.589C>T, NR_030691.2:n.833C>A, NR_030691.2:n.833C>G, NR_030691.2:n.833C>T, NR_030691.1:n.841C>A, NR_030691.1:n.841C>G, NR_030691.1:n.841C>T, XM_047427185.1:c.835C>A, XM_047427185.1:c.835C>G, XM_047427185.1:c.835C>T, NM_001378092.1:c.811C>A, NM_001378092.1:c.811C>G, NM_001378092.1:c.811C>T, XM_047427181.1:c.811C>A, XM_047427181.1:c.811C>G, XM_047427181.1:c.811C>T, XM_047427183.1:c.688C>A, XM_047427183.1:c.688C>G, XM_047427183.1:c.688C>T, XM_047427184.1:c.811C>A, XM_047427184.1:c.811C>G, XM_047427184.1:c.811C>T, XM_047427182.1:c.688C>A, XM_047427182.1:c.688C>G, XM_047427182.1:c.688C>T, XM_047427186.1:c.688C>A, XM_047427186.1:c.688C>G, XM_047427186.1:c.688C>T, NM_001378093.1:c.688C>A, NM_001378093.1:c.688C>G, NM_001378093.1:c.688C>T, NP_060513.5:p.His230Asn, NP_060513.5:p.His230Asp, NP_060513.5:p.His230Tyr, XP_011543425.1:p.His230Asn, XP_011543425.1:p.His230Asp, XP_011543425.1:p.His230Tyr, XP_011543426.1:p.His230Asn, XP_011543426.1:p.His230Asp, XP_011543426.1:p.His230Tyr, XP_006718665.1:p.His202Asn, XP_006718665.1:p.His202Asp, XP_006718665.1:p.His202Tyr, XP_011543431.1:p.His201Asn, XP_011543431.1:p.His201Asp, XP_011543431.1:p.His201Tyr, XP_011543429.1:p.His230Asn, XP_011543429.1:p.His230Asp, XP_011543429.1:p.His230Tyr, XP_011543433.1:p.His202Asn, XP_011543433.1:p.His202Asp, XP_011543433.1:p.His202Tyr, NP_001365024.1:p.His230Asn, NP_001365024.1:p.His230Asp, NP_001365024.1:p.His230Tyr, NP_001365023.1:p.His230Asn, NP_001365023.1:p.His230Asp, NP_001365023.1:p.His230Tyr, NP_001365025.1:p.His230Asn, NP_001365025.1:p.His230Asp, NP_001365025.1:p.His230Tyr, NP_001365026.1:p.His197Asn, NP_001365026.1:p.His197Asp, NP_001365026.1:p.His197Tyr, XP_047283141.1:p.His279Asn, XP_047283141.1:p.His279Asp, XP_047283141.1:p.His279Tyr, NP_001365021.1:p.His271Asn, NP_001365021.1:p.His271Asp, NP_001365021.1:p.His271Tyr, XP_047283137.1:p.His271Asn, XP_047283137.1:p.His271Asp, XP_047283137.1:p.His271Tyr, XP_047283139.1:p.His230Asn, XP_047283139.1:p.His230Asp, XP_047283139.1:p.His230Tyr, XP_047283140.1:p.His271Asn, XP_047283140.1:p.His271Asp, XP_047283140.1:p.His271Tyr, XP_047283138.1:p.His230Asn, XP_047283138.1:p.His230Asp, XP_047283138.1:p.His230Tyr, XP_047283142.1:p.His230Asn, XP_047283142.1:p.His230Asp, XP_047283142.1:p.His230Tyr, NP_001365022.1:p.His230Asn, NP_001365022.1:p.His230Asp, NP_001365022.1:p.His230Tyr
                  10.

                  rs1485016667 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    11:70187907 (GRCh38)
                    11:70034013 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:70187906:A:G
                    Gene:
                    ANO1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_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=0.000014/3 (GnomAD_exomes)
                    HGVS:
                    NC_000011.10:g.70187907A>G, NC_000011.9:g.70034013A>G, NM_018043.7:c.2864A>G, NM_018043.6:c.2864A>G, NM_018043.5:c.2864A>G, XM_011545123.3:c.2927A>G, XM_011545123.2:c.2927A>G, XM_011545123.1:c.2927A>G, XM_011545124.3:c.2918A>G, XM_011545124.2:c.2918A>G, XM_011545124.1:c.2918A>G, XM_006718602.3:c.2846A>G, XM_006718602.2:c.2846A>G, XM_006718602.1:c.2846A>G, XM_011545129.3:c.2843A>G, XM_011545129.2:c.2843A>G, XM_011545129.1:c.2843A>G, XM_011545127.3:c.2786A>G, XM_011545127.2:c.2786A>G, XM_011545127.1:c.2786A>G, NM_001378095.2:c.2852A>G, NM_001378095.1:c.2852A>G, NM_001378094.2:c.2852A>G, NM_001378094.1:c.2852A>G, NM_001378096.2:c.2774A>G, NM_001378096.1:c.2774A>G, NM_001378097.2:c.2687A>G, NM_001378097.1:c.2687A>G, NR_030691.2:n.2919A>G, NR_030691.1:n.2927A>G, XM_047427185.1:c.2921A>G, NM_001378092.1:c.3053A>G, XM_047427181.1:c.2963A>G, XM_047427183.1:c.2930A>G, XM_047427184.1:c.2897A>G, XM_047427182.1:c.2930A>G, XM_047427186.1:c.2864A>G, NM_001378093.1:c.2852A>G, XM_047427187.1:c.2069A>G, NP_060513.5:p.Lys955Arg, XP_011543425.1:p.Lys976Arg, XP_011543426.1:p.Lys973Arg, XP_006718665.1:p.Lys949Arg, XP_011543431.1:p.Lys948Arg, XP_011543429.1:p.Lys929Arg, NP_001365024.1:p.Lys951Arg, NP_001365023.1:p.Lys951Arg, NP_001365025.1:p.Lys925Arg, NP_001365026.1:p.Lys896Arg, XP_047283141.1:p.Lys974Arg, NP_001365021.1:p.Lys1018Arg, XP_047283137.1:p.Lys988Arg, XP_047283139.1:p.Lys977Arg, XP_047283140.1:p.Lys966Arg, XP_047283138.1:p.Lys977Arg, XP_047283142.1:p.Lys955Arg, NP_001365022.1:p.Lys951Arg, XP_047283143.1:p.Lys690Arg
                    11.

                    rs1484612875 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      11:70103105 (GRCh38)
                      11:69949211 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:70103104:C:G,NC_000011.10:70103104:C:T
                      Gene:
                      ANO1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000031/1 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000011.10:g.70103105C>G, NC_000011.10:g.70103105C>T, NC_000011.9:g.69949211C>G, NC_000011.9:g.69949211C>T, NM_018043.7:c.481C>G, NM_018043.7:c.481C>T, NM_018043.6:c.481C>G, NM_018043.6:c.481C>T, NM_018043.5:c.481C>G, NM_018043.5:c.481C>T, XM_011545123.3:c.481C>G, XM_011545123.3:c.481C>T, XM_011545123.2:c.481C>G, XM_011545123.2:c.481C>T, XM_011545123.1:c.481C>G, XM_011545123.1:c.481C>T, XM_011545124.3:c.481C>G, XM_011545124.3:c.481C>T, XM_011545124.2:c.481C>G, XM_011545124.2:c.481C>T, XM_011545124.1:c.481C>G, XM_011545124.1:c.481C>T, XM_006718602.3:c.397C>G, XM_006718602.3:c.397C>T, XM_006718602.2:c.397C>G, XM_006718602.2:c.397C>T, XM_006718602.1:c.397C>G, XM_006718602.1:c.397C>T, XM_011545129.3:c.394C>G, XM_011545129.3:c.394C>T, XM_011545129.2:c.394C>G, XM_011545129.2:c.394C>T, XM_011545129.1:c.394C>G, XM_011545129.1:c.394C>T, XM_011545127.3:c.481C>G, XM_011545127.3:c.481C>T, XM_011545127.2:c.481C>G, XM_011545127.2:c.481C>T, XM_011545127.1:c.481C>G, XM_011545127.1:c.481C>T, XM_011545131.3:c.397C>G, XM_011545131.3:c.397C>T, XM_011545131.2:c.397C>G, XM_011545131.2:c.397C>T, XM_011545131.1:c.397C>G, XM_011545131.1:c.397C>T, NM_001378095.2:c.481C>G, NM_001378095.2:c.481C>T, NM_001378095.1:c.481C>G, NM_001378095.1:c.481C>T, NM_001378094.2:c.481C>G, NM_001378094.2:c.481C>T, NM_001378094.1:c.481C>G, NM_001378094.1:c.481C>T, NM_001378096.2:c.481C>G, NM_001378096.2:c.481C>T, NM_001378096.1:c.481C>G, NM_001378096.1:c.481C>T, NR_030691.2:n.626C>G, NR_030691.2:n.626C>T, NR_030691.1:n.634C>G, NR_030691.1:n.634C>T, XM_047427185.1:c.628C>G, XM_047427185.1:c.628C>T, NM_001378092.1:c.604C>G, NM_001378092.1:c.604C>T, XM_047427181.1:c.604C>G, XM_047427181.1:c.604C>T, XM_047427183.1:c.481C>G, XM_047427183.1:c.481C>T, XM_047427184.1:c.604C>G, XM_047427184.1:c.604C>T, XM_047427182.1:c.481C>G, XM_047427182.1:c.481C>T, XM_047427186.1:c.481C>G, XM_047427186.1:c.481C>T, NM_001378093.1:c.481C>G, NM_001378093.1:c.481C>T, NP_060513.5:p.Pro161Ala, NP_060513.5:p.Pro161Ser, XP_011543425.1:p.Pro161Ala, XP_011543425.1:p.Pro161Ser, XP_011543426.1:p.Pro161Ala, XP_011543426.1:p.Pro161Ser, XP_006718665.1:p.Pro133Ala, XP_006718665.1:p.Pro133Ser, XP_011543431.1:p.Pro132Ala, XP_011543431.1:p.Pro132Ser, XP_011543429.1:p.Pro161Ala, XP_011543429.1:p.Pro161Ser, XP_011543433.1:p.Pro133Ala, XP_011543433.1:p.Pro133Ser, NP_001365024.1:p.Pro161Ala, NP_001365024.1:p.Pro161Ser, NP_001365023.1:p.Pro161Ala, NP_001365023.1:p.Pro161Ser, NP_001365025.1:p.Pro161Ala, NP_001365025.1:p.Pro161Ser, XP_047283141.1:p.Pro210Ala, XP_047283141.1:p.Pro210Ser, NP_001365021.1:p.Pro202Ala, NP_001365021.1:p.Pro202Ser, XP_047283137.1:p.Pro202Ala, XP_047283137.1:p.Pro202Ser, XP_047283139.1:p.Pro161Ala, XP_047283139.1:p.Pro161Ser, XP_047283140.1:p.Pro202Ala, XP_047283140.1:p.Pro202Ser, XP_047283138.1:p.Pro161Ala, XP_047283138.1:p.Pro161Ser, XP_047283142.1:p.Pro161Ala, XP_047283142.1:p.Pro161Ser, NP_001365022.1:p.Pro161Ala, NP_001365022.1:p.Pro161Ser
                      12.

                      rs1484585448 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->G [Show Flanks]
                        Chromosome:
                        11:70126141 (GRCh38)
                        11:69972248 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:70126141:GGG:GGGG
                        Gene:
                        ANO1 (Varview)
                        Functional Consequence:
                        frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        GGGG=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000011.10:g.70126144dup, NC_000011.9:g.69972250dup, NM_018043.7:c.1046dup, NM_018043.6:c.1046dup, NM_018043.5:c.1046dup, XM_011545123.3:c.1112dup, XM_011545123.2:c.1112dup, XM_011545123.1:c.1112dup, XM_011545124.3:c.1112dup, XM_011545124.2:c.1112dup, XM_011545124.1:c.1112dup, XM_006718602.3:c.1028dup, XM_006718602.2:c.1028dup, XM_006718602.1:c.1028dup, XM_011545129.3:c.1025dup, XM_011545129.2:c.1025dup, XM_011545129.1:c.1025dup, XM_011545127.3:c.1046dup, XM_011545127.2:c.1046dup, XM_011545127.1:c.1046dup, XM_011545131.3:c.962dup, XM_011545131.2:c.962dup, XM_011545131.1:c.962dup, NM_001378095.2:c.1112dup, NM_001378095.1:c.1112dup, NM_001378094.2:c.1046dup, NM_001378094.1:c.1046dup, NM_001378096.2:c.1046dup, NM_001378096.1:c.1046dup, NM_001378097.2:c.947dup, NM_001378097.1:c.947dup, NR_030691.2:n.1191dup, NR_030691.1:n.1199dup, XM_047427185.1:c.1193dup, NM_001378092.1:c.1235dup, XM_047427181.1:c.1235dup, XM_047427183.1:c.1112dup, XM_047427184.1:c.1169dup, XM_047427182.1:c.1112dup, XM_047427186.1:c.1046dup, NM_001378093.1:c.1046dup, XM_047427187.1:c.251dup, NP_060513.5:p.Ile350fs, XP_011543425.1:p.Ile372fs, XP_011543426.1:p.Ile372fs, XP_006718665.1:p.Ile344fs, XP_011543431.1:p.Ile343fs, XP_011543429.1:p.Ile350fs, XP_011543433.1:p.Ile322fs, NP_001365024.1:p.Ile372fs, NP_001365023.1:p.Ile350fs, NP_001365025.1:p.Ile350fs, NP_001365026.1:p.Ile317fs, XP_047283141.1:p.Ile399fs, NP_001365021.1:p.Ile413fs, XP_047283137.1:p.Ile413fs, XP_047283139.1:p.Ile372fs, XP_047283140.1:p.Ile391fs, XP_047283138.1:p.Ile372fs, XP_047283142.1:p.Ile350fs, NP_001365022.1:p.Ile350fs, XP_047283143.1:p.Ile85fs
                        13.

                        rs1483591847 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          11:70132024 (GRCh38)
                          11:69978130 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:70132023:C:A
                          Gene:
                          ANO1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,non_coding_transcript_variant
                          HGVS:
                          NC_000011.10:g.70132024C>A, NC_000011.9:g.69978130C>A, NM_018043.7:c.1203C>A, NM_018043.6:c.1203C>A, NM_018043.5:c.1203C>A, XM_011545123.3:c.1269C>A, XM_011545123.2:c.1269C>A, XM_011545123.1:c.1269C>A, XM_011545124.3:c.1269C>A, XM_011545124.2:c.1269C>A, XM_011545124.1:c.1269C>A, XM_006718602.3:c.1185C>A, XM_006718602.2:c.1185C>A, XM_006718602.1:c.1185C>A, XM_011545129.3:c.1182C>A, XM_011545129.2:c.1182C>A, XM_011545129.1:c.1182C>A, XM_011545127.3:c.1203C>A, XM_011545127.2:c.1203C>A, XM_011545127.1:c.1203C>A, XM_011545131.3:c.1119C>A, XM_011545131.2:c.1119C>A, XM_011545131.1:c.1119C>A, NM_001378095.2:c.1269C>A, NM_001378095.1:c.1269C>A, NM_001378094.2:c.1203C>A, NM_001378094.1:c.1203C>A, NM_001378096.2:c.1203C>A, NM_001378096.1:c.1203C>A, NM_001378097.2:c.1104C>A, NM_001378097.1:c.1104C>A, NR_030691.2:n.1348C>A, NR_030691.1:n.1356C>A, XM_047427185.1:c.1350C>A, NM_001378092.1:c.1392C>A, XM_047427181.1:c.1392C>A, XM_047427183.1:c.1269C>A, XM_047427184.1:c.1326C>A, XM_047427182.1:c.1269C>A, XM_047427186.1:c.1203C>A, NM_001378093.1:c.1203C>A, XM_047427187.1:c.408C>A, NP_060513.5:p.Ser401Arg, XP_011543425.1:p.Ser423Arg, XP_011543426.1:p.Ser423Arg, XP_006718665.1:p.Ser395Arg, XP_011543431.1:p.Ser394Arg, XP_011543429.1:p.Ser401Arg, XP_011543433.1:p.Ser373Arg, NP_001365024.1:p.Ser423Arg, NP_001365023.1:p.Ser401Arg, NP_001365025.1:p.Ser401Arg, NP_001365026.1:p.Ser368Arg, XP_047283141.1:p.Ser450Arg, NP_001365021.1:p.Ser464Arg, XP_047283137.1:p.Ser464Arg, XP_047283139.1:p.Ser423Arg, XP_047283140.1:p.Ser442Arg, XP_047283138.1:p.Ser423Arg, XP_047283142.1:p.Ser401Arg, NP_001365022.1:p.Ser401Arg, XP_047283143.1:p.Ser136Arg
                          15.

                          rs1481850080 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A,C [Show Flanks]
                            Chromosome:
                            11:70180019 (GRCh38)
                            11:70026125 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:70180018:T:A,NC_000011.10:70180018:T:C
                            Gene:
                            ANO1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000011.10:g.70180019T>A, NC_000011.10:g.70180019T>C, NC_000011.9:g.70026125T>A, NC_000011.9:g.70026125T>C, NM_018043.7:c.2366T>A, NM_018043.7:c.2366T>C, NM_018043.6:c.2366T>A, NM_018043.6:c.2366T>C, NM_018043.5:c.2366T>A, NM_018043.5:c.2366T>C, XM_011545123.3:c.2429T>A, XM_011545123.3:c.2429T>C, XM_011545123.2:c.2429T>A, XM_011545123.2:c.2429T>C, XM_011545123.1:c.2429T>A, XM_011545123.1:c.2429T>C, XM_011545124.3:c.2420T>A, XM_011545124.3:c.2420T>C, XM_011545124.2:c.2420T>A, XM_011545124.2:c.2420T>C, XM_011545124.1:c.2420T>A, XM_011545124.1:c.2420T>C, XM_006718602.3:c.2348T>A, XM_006718602.3:c.2348T>C, XM_006718602.2:c.2348T>A, XM_006718602.2:c.2348T>C, XM_006718602.1:c.2348T>A, XM_006718602.1:c.2348T>C, XM_011545129.3:c.2345T>A, XM_011545129.3:c.2345T>C, XM_011545129.2:c.2345T>A, XM_011545129.2:c.2345T>C, XM_011545129.1:c.2345T>A, XM_011545129.1:c.2345T>C, XM_011545127.3:c.2288T>A, XM_011545127.3:c.2288T>C, XM_011545127.2:c.2288T>A, XM_011545127.2:c.2288T>C, XM_011545127.1:c.2288T>A, XM_011545127.1:c.2288T>C, NM_001378095.2:c.2354T>A, NM_001378095.2:c.2354T>C, NM_001378095.1:c.2354T>A, NM_001378095.1:c.2354T>C, NM_001378094.2:c.2354T>A, NM_001378094.2:c.2354T>C, NM_001378094.1:c.2354T>A, NM_001378094.1:c.2354T>C, NM_001378096.2:c.2276T>A, NM_001378096.2:c.2276T>C, NM_001378096.1:c.2276T>A, NM_001378096.1:c.2276T>C, NM_001378097.2:c.2189T>A, NM_001378097.2:c.2189T>C, NM_001378097.1:c.2189T>A, NM_001378097.1:c.2189T>C, NR_030691.2:n.2421T>A, NR_030691.2:n.2421T>C, NR_030691.1:n.2429T>A, NR_030691.1:n.2429T>C, XM_047427185.1:c.2423T>A, XM_047427185.1:c.2423T>C, NM_001378092.1:c.2555T>A, NM_001378092.1:c.2555T>C, XM_047427181.1:c.2465T>A, XM_047427181.1:c.2465T>C, XM_047427183.1:c.2432T>A, XM_047427183.1:c.2432T>C, XM_047427184.1:c.2399T>A, XM_047427184.1:c.2399T>C, XM_047427182.1:c.2432T>A, XM_047427182.1:c.2432T>C, XM_047427186.1:c.2366T>A, XM_047427186.1:c.2366T>C, NM_001378093.1:c.2354T>A, NM_001378093.1:c.2354T>C, XM_047427187.1:c.1571T>A, XM_047427187.1:c.1571T>C, NP_060513.5:p.Ile789Asn, NP_060513.5:p.Ile789Thr, XP_011543425.1:p.Ile810Asn, XP_011543425.1:p.Ile810Thr, XP_011543426.1:p.Ile807Asn, XP_011543426.1:p.Ile807Thr, XP_006718665.1:p.Ile783Asn, XP_006718665.1:p.Ile783Thr, XP_011543431.1:p.Ile782Asn, XP_011543431.1:p.Ile782Thr, XP_011543429.1:p.Ile763Asn, XP_011543429.1:p.Ile763Thr, NP_001365024.1:p.Ile785Asn, NP_001365024.1:p.Ile785Thr, NP_001365023.1:p.Ile785Asn, NP_001365023.1:p.Ile785Thr, NP_001365025.1:p.Ile759Asn, NP_001365025.1:p.Ile759Thr, NP_001365026.1:p.Ile730Asn, NP_001365026.1:p.Ile730Thr, XP_047283141.1:p.Ile808Asn, XP_047283141.1:p.Ile808Thr, NP_001365021.1:p.Ile852Asn, NP_001365021.1:p.Ile852Thr, XP_047283137.1:p.Ile822Asn, XP_047283137.1:p.Ile822Thr, XP_047283139.1:p.Ile811Asn, XP_047283139.1:p.Ile811Thr, XP_047283140.1:p.Ile800Asn, XP_047283140.1:p.Ile800Thr, XP_047283138.1:p.Ile811Asn, XP_047283138.1:p.Ile811Thr, XP_047283142.1:p.Ile789Asn, XP_047283142.1:p.Ile789Thr, NP_001365022.1:p.Ile785Asn, NP_001365022.1:p.Ile785Thr, XP_047283143.1:p.Ile524Asn, XP_047283143.1:p.Ile524Thr
                            16.
                            18.

                            rs1481107549 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->GAATGCCTTGTACCAATGCC [Show Flanks]
                              Chromosome:
                              11:70180006 (GRCh38)
                              11:70026113 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:70180006::GAATGCCTTGTACCAATGCC
                              Gene:
                              ANO1 (Varview)
                              Functional Consequence:
                              frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              GAATGCCTTGTACCAATGCC=0./0 (ALFA)
                              GAATGCCTTGTACCAATGCC=0.000004/1 (TOPMED)
                              GAATGCCTTGTACCAATGCC=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000011.10:g.70180006_70180007insGAATGCCTTGTACCAATGCC, NC_000011.9:g.70026112_70026113insGAATGCCTTGTACCAATGCC, NM_018043.7:c.2353_2354insGAATGCCTTGTACCAATGCC, NM_018043.6:c.2353_2354insGAATGCCTTGTACCAATGCC, NM_018043.5:c.2353_2354insGAATGCCTTGTACCAATGCC, XM_011545123.3:c.2416_2417insGAATGCCTTGTACCAATGCC, XM_011545123.2:c.2416_2417insGAATGCCTTGTACCAATGCC, XM_011545123.1:c.2416_2417insGAATGCCTTGTACCAATGCC, XM_011545124.3:c.2407_2408insGAATGCCTTGTACCAATGCC, XM_011545124.2:c.2407_2408insGAATGCCTTGTACCAATGCC, XM_011545124.1:c.2407_2408insGAATGCCTTGTACCAATGCC, XM_006718602.3:c.2335_2336insGAATGCCTTGTACCAATGCC, XM_006718602.2:c.2335_2336insGAATGCCTTGTACCAATGCC, XM_006718602.1:c.2335_2336insGAATGCCTTGTACCAATGCC, XM_011545129.3:c.2332_2333insGAATGCCTTGTACCAATGCC, XM_011545129.2:c.2332_2333insGAATGCCTTGTACCAATGCC, XM_011545129.1:c.2332_2333insGAATGCCTTGTACCAATGCC, XM_011545127.3:c.2275_2276insGAATGCCTTGTACCAATGCC, XM_011545127.2:c.2275_2276insGAATGCCTTGTACCAATGCC, XM_011545127.1:c.2275_2276insGAATGCCTTGTACCAATGCC, NM_001378095.2:c.2341_2342insGAATGCCTTGTACCAATGCC, NM_001378095.1:c.2341_2342insGAATGCCTTGTACCAATGCC, NM_001378094.2:c.2341_2342insGAATGCCTTGTACCAATGCC, NM_001378094.1:c.2341_2342insGAATGCCTTGTACCAATGCC, NM_001378096.2:c.2263_2264insGAATGCCTTGTACCAATGCC, NM_001378096.1:c.2263_2264insGAATGCCTTGTACCAATGCC, NM_001378097.2:c.2176_2177insGAATGCCTTGTACCAATGCC, NM_001378097.1:c.2176_2177insGAATGCCTTGTACCAATGCC, NR_030691.2:n.2408_2409insGAATGCCTTGTACCAATGCC, NR_030691.1:n.2416_2417insGAATGCCTTGTACCAATGCC, XM_047427185.1:c.2410_2411insGAATGCCTTGTACCAATGCC, NM_001378092.1:c.2542_2543insGAATGCCTTGTACCAATGCC, XM_047427181.1:c.2452_2453insGAATGCCTTGTACCAATGCC, XM_047427183.1:c.2419_2420insGAATGCCTTGTACCAATGCC, XM_047427184.1:c.2386_2387insGAATGCCTTGTACCAATGCC, XM_047427182.1:c.2419_2420insGAATGCCTTGTACCAATGCC, XM_047427186.1:c.2353_2354insGAATGCCTTGTACCAATGCC, NM_001378093.1:c.2341_2342insGAATGCCTTGTACCAATGCC, XM_047427187.1:c.1558_1559insGAATGCCTTGTACCAATGCC, NP_060513.5:p.Ile785fs, XP_011543425.1:p.Ile806fs, XP_011543426.1:p.Ile803fs, XP_006718665.1:p.Ile779fs, XP_011543431.1:p.Ile778fs, XP_011543429.1:p.Ile759fs, NP_001365024.1:p.Ile781fs, NP_001365023.1:p.Ile781fs, NP_001365025.1:p.Ile755fs, NP_001365026.1:p.Ile726fs, XP_047283141.1:p.Ile804fs, NP_001365021.1:p.Ile848fs, XP_047283137.1:p.Ile818fs, XP_047283139.1:p.Ile807fs, XP_047283140.1:p.Ile796fs, XP_047283138.1:p.Ile807fs, XP_047283142.1:p.Ile785fs, NP_001365022.1:p.Ile781fs, XP_047283143.1:p.Ile520fs
                              19.

                              rs1479701011 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->A [Show Flanks]
                                Chromosome:
                                11:70161689 (GRCh38)
                                11:70007796 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:70161689:AA:AAA
                                Gene:
                                ANO1 (Varview)
                                Functional Consequence:
                                frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                AAA=0./0 (ALFA)
                                HGVS:
                                NC_000011.10:g.70161691dup, NC_000011.9:g.70007797dup, NM_018043.7:c.1850dup, NM_018043.6:c.1850dup, NM_018043.5:c.1850dup, XM_011545123.3:c.1913dup, XM_011545123.2:c.1913dup, XM_011545123.1:c.1913dup, XM_011545124.3:c.1904dup, XM_011545124.2:c.1904dup, XM_011545124.1:c.1904dup, XM_006718602.3:c.1832dup, XM_006718602.2:c.1832dup, XM_006718602.1:c.1832dup, XM_011545129.3:c.1829dup, XM_011545129.2:c.1829dup, XM_011545129.1:c.1829dup, XM_011545127.3:c.1772dup, XM_011545127.2:c.1772dup, XM_011545127.1:c.1772dup, XM_011545131.3:c.1676dup, XM_011545131.2:c.1676dup, XM_011545131.1:c.1676dup, NM_001378095.2:c.1838dup, NM_001378095.1:c.1838dup, NM_001378094.2:c.1838dup, NM_001378094.1:c.1838dup, NM_001378096.2:c.1760dup, NM_001378096.1:c.1760dup, NM_001378097.2:c.1673dup, NM_001378097.1:c.1673dup, NR_030691.2:n.1905dup, NR_030691.1:n.1913dup, XM_047427185.1:c.1907dup, NM_001378092.1:c.2039dup, XM_047427181.1:c.1949dup, XM_047427183.1:c.1916dup, XM_047427184.1:c.1883dup, XM_047427182.1:c.1916dup, XM_047427186.1:c.1850dup, NM_001378093.1:c.1838dup, XM_047427187.1:c.1055dup, NP_060513.5:p.Asn617fs, XP_011543425.1:p.Asn638fs, XP_011543426.1:p.Asn635fs, XP_006718665.1:p.Asn611fs, XP_011543431.1:p.Asn610fs, XP_011543429.1:p.Asn591fs, XP_011543433.1:p.Asn559fs, NP_001365024.1:p.Asn613fs, NP_001365023.1:p.Asn613fs, NP_001365025.1:p.Asn587fs, NP_001365026.1:p.Asn558fs, XP_047283141.1:p.Asn636fs, NP_001365021.1:p.Asn680fs, XP_047283137.1:p.Asn650fs, XP_047283139.1:p.Asn639fs, XP_047283140.1:p.Asn628fs, XP_047283138.1:p.Asn639fs, XP_047283142.1:p.Asn617fs, NP_001365022.1:p.Asn613fs, XP_047283143.1:p.Asn352fs
                                20.

                                rs1478482490 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  11:70165544 (GRCh38)
                                  11:70011650 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:70165543:G:A,NC_000011.10:70165543:G:C
                                  Gene:
                                  ANO1 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000019/5 (TOPMED)
                                  C=0.000021/3 (GnomAD)
                                  HGVS:
                                  NC_000011.10:g.70165544G>A, NC_000011.10:g.70165544G>C, NC_000011.9:g.70011650G>A, NC_000011.9:g.70011650G>C, NM_018043.7:c.2025G>A, NM_018043.7:c.2025G>C, NM_018043.6:c.2025G>A, NM_018043.6:c.2025G>C, NM_018043.5:c.2025G>A, NM_018043.5:c.2025G>C, XM_011545123.3:c.2088G>A, XM_011545123.3:c.2088G>C, XM_011545123.2:c.2088G>A, XM_011545123.2:c.2088G>C, XM_011545123.1:c.2088G>A, XM_011545123.1:c.2088G>C, XM_011545124.3:c.2079G>A, XM_011545124.3:c.2079G>C, XM_011545124.2:c.2079G>A, XM_011545124.2:c.2079G>C, XM_011545124.1:c.2079G>A, XM_011545124.1:c.2079G>C, XM_006718602.3:c.2007G>A, XM_006718602.3:c.2007G>C, XM_006718602.2:c.2007G>A, XM_006718602.2:c.2007G>C, XM_006718602.1:c.2007G>A, XM_006718602.1:c.2007G>C, XM_011545129.3:c.2004G>A, XM_011545129.3:c.2004G>C, XM_011545129.2:c.2004G>A, XM_011545129.2:c.2004G>C, XM_011545129.1:c.2004G>A, XM_011545129.1:c.2004G>C, XM_011545127.3:c.1947G>A, XM_011545127.3:c.1947G>C, XM_011545127.2:c.1947G>A, XM_011545127.2:c.1947G>C, XM_011545127.1:c.1947G>A, XM_011545127.1:c.1947G>C, NM_001378095.2:c.2013G>A, NM_001378095.2:c.2013G>C, NM_001378095.1:c.2013G>A, NM_001378095.1:c.2013G>C, NM_001378094.2:c.2013G>A, NM_001378094.2:c.2013G>C, NM_001378094.1:c.2013G>A, NM_001378094.1:c.2013G>C, NM_001378096.2:c.1935G>A, NM_001378096.2:c.1935G>C, NM_001378096.1:c.1935G>A, NM_001378096.1:c.1935G>C, NM_001378097.2:c.1848G>A, NM_001378097.2:c.1848G>C, NM_001378097.1:c.1848G>A, NM_001378097.1:c.1848G>C, NR_030691.2:n.2080G>A, NR_030691.2:n.2080G>C, NR_030691.1:n.2088G>A, NR_030691.1:n.2088G>C, XM_047427185.1:c.2082G>A, XM_047427185.1:c.2082G>C, NM_001378092.1:c.2214G>A, NM_001378092.1:c.2214G>C, XM_047427181.1:c.2124G>A, XM_047427181.1:c.2124G>C, XM_047427183.1:c.2091G>A, XM_047427183.1:c.2091G>C, XM_047427184.1:c.2058G>A, XM_047427184.1:c.2058G>C, XM_047427182.1:c.2091G>A, XM_047427182.1:c.2091G>C, XM_047427186.1:c.2025G>A, XM_047427186.1:c.2025G>C, NM_001378093.1:c.2013G>A, NM_001378093.1:c.2013G>C, XM_047427187.1:c.1230G>A, XM_047427187.1:c.1230G>C, NP_060513.5:p.Gln675His, XP_011543425.1:p.Gln696His, XP_011543426.1:p.Gln693His, XP_006718665.1:p.Gln669His, XP_011543431.1:p.Gln668His, XP_011543429.1:p.Gln649His, NP_001365024.1:p.Gln671His, NP_001365023.1:p.Gln671His, NP_001365025.1:p.Gln645His, NP_001365026.1:p.Gln616His, XP_047283141.1:p.Gln694His, NP_001365021.1:p.Gln738His, XP_047283137.1:p.Gln708His, XP_047283139.1:p.Gln697His, XP_047283140.1:p.Gln686His, XP_047283138.1:p.Gln697His, XP_047283142.1:p.Gln675His, NP_001365022.1:p.Gln671His, XP_047283143.1:p.Gln410His

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