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Items: 1 to 20 of 8615

1.

rs1491532108 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AG>- [Show Flanks]
    Chromosome:
    16:71382033 (GRCh38)
    16:71415936 (GRCh37)
    Canonical SPDI:
    NC_000016.10:71382031:GAG:G
    Gene:
    CALB2 (Varview), LOC105371332 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency
    MAF:
    -=0.000032/4 (GnomAD)
    HGVS:
    2.

    rs1491494368 has merged into rs146702342 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      16:71389008 (GRCh38)
      16:71422911 (GRCh37)
      Canonical SPDI:
      NC_000016.10:71388997:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:71388997:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:71388997:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:71388997:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:71388997:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:71388997:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:71388997:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:71388997:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:71388997:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:71388997:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:71388997:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:71388997:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:71388997:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      CALB2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAA=0./0 (ALFA)
      AA=0.2123/1063 (1000Genomes)
      HGVS:
      NC_000016.10:g.71389008_71389017del, NC_000016.10:g.71389009_71389017del, NC_000016.10:g.71389011_71389017del, NC_000016.10:g.71389012_71389017del, NC_000016.10:g.71389013_71389017del, NC_000016.10:g.71389014_71389017del, NC_000016.10:g.71389015_71389017del, NC_000016.10:g.71389016_71389017del, NC_000016.10:g.71389017del, NC_000016.10:g.71389017dup, NC_000016.10:g.71389016_71389017dup, NC_000016.10:g.71389015_71389017dup, NC_000016.10:g.71389013_71389017dup, NC_000016.9:g.71422911_71422920del, NC_000016.9:g.71422912_71422920del, NC_000016.9:g.71422914_71422920del, NC_000016.9:g.71422915_71422920del, NC_000016.9:g.71422916_71422920del, NC_000016.9:g.71422917_71422920del, NC_000016.9:g.71422918_71422920del, NC_000016.9:g.71422919_71422920del, NC_000016.9:g.71422920del, NC_000016.9:g.71422920dup, NC_000016.9:g.71422919_71422920dup, NC_000016.9:g.71422918_71422920dup, NC_000016.9:g.71422916_71422920dup, NW_013171813.1:g.256505_256514del, NW_013171813.1:g.256506_256514del, NW_013171813.1:g.256508_256514del, NW_013171813.1:g.256509_256514del, NW_013171813.1:g.256510_256514del, NW_013171813.1:g.256511_256514del, NW_013171813.1:g.256512_256514del, NW_013171813.1:g.256513_256514del, NW_013171813.1:g.256514del, NW_013171813.1:g.256514dup, NW_013171813.1:g.256513_256514dup, NW_013171813.1:g.256512_256514dup, NW_013171813.1:g.256510_256514dup
      3.

      rs1491466164 has merged into rs11303887 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AA>-,A,AAA,AAAA [Show Flanks]
        Chromosome:
        16:71370494 (GRCh38)
        16:71404397 (GRCh37)
        Canonical SPDI:
        NC_000016.10:71370482:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:71370482:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:71370482:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:71370482:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
        Gene:
        CALB2 (Varview), LOC105371332 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAAAAAA=0./0 (ALFA)
        -=0.000008/2 (TOPMED)
        -=0.001667/1 (NorthernSweden)
        HGVS:
        4.

        rs1491452897 has merged into rs1171021532 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTTTTT>-,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          16:71366032 (GRCh38)
          16:71399935 (GRCh37)
          Canonical SPDI:
          NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71366024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          CALB2 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTT=0./0 (ALFA)
          HGVS:
          NC_000016.10:g.71366032_71366044del, NC_000016.10:g.71366036_71366044del, NC_000016.10:g.71366038_71366044del, NC_000016.10:g.71366040_71366044del, NC_000016.10:g.71366041_71366044del, NC_000016.10:g.71366042_71366044del, NC_000016.10:g.71366043_71366044del, NC_000016.10:g.71366044del, NC_000016.10:g.71366044dup, NC_000016.10:g.71366043_71366044dup, NC_000016.10:g.71366042_71366044dup, NC_000016.10:g.71366041_71366044dup, NC_000016.10:g.71366040_71366044dup, NC_000016.10:g.71366039_71366044dup, NC_000016.10:g.71366038_71366044dup, NC_000016.10:g.71366036_71366044dup, NC_000016.10:g.71366035_71366044dup, NC_000016.10:g.71366034_71366044dup, NC_000016.10:g.71366033_71366044dup, NC_000016.10:g.71366032_71366044dup, NC_000016.10:g.71366031_71366044dup, NC_000016.10:g.71366030_71366044dup, NC_000016.10:g.71366029_71366044dup, NC_000016.10:g.71366028_71366044dup, NC_000016.10:g.71366027_71366044dup, NC_000016.10:g.71366026_71366044dup, NC_000016.10:g.71366025_71366044dup, NC_000016.10:g.71366044_71366045insTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.71366044_71366045insTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.71366044_71366045insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.71366044_71366045insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.71366044_71366045insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.71366044_71366045insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.71366044_71366045insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.71366044_71366045insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.71366044_71366045insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.71366044_71366045insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.71366044_71366045insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.71366044_71366045insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.71366044_71366045insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.71399935_71399947del, NC_000016.9:g.71399939_71399947del, NC_000016.9:g.71399941_71399947del, NC_000016.9:g.71399943_71399947del, NC_000016.9:g.71399944_71399947del, NC_000016.9:g.71399945_71399947del, NC_000016.9:g.71399946_71399947del, NC_000016.9:g.71399947del, NC_000016.9:g.71399947dup, NC_000016.9:g.71399946_71399947dup, NC_000016.9:g.71399945_71399947dup, NC_000016.9:g.71399944_71399947dup, NC_000016.9:g.71399943_71399947dup, NC_000016.9:g.71399942_71399947dup, NC_000016.9:g.71399941_71399947dup, NC_000016.9:g.71399939_71399947dup, NC_000016.9:g.71399938_71399947dup, NC_000016.9:g.71399937_71399947dup, NC_000016.9:g.71399936_71399947dup, NC_000016.9:g.71399935_71399947dup, NC_000016.9:g.71399934_71399947dup, NC_000016.9:g.71399933_71399947dup, NC_000016.9:g.71399932_71399947dup, NC_000016.9:g.71399931_71399947dup, NC_000016.9:g.71399930_71399947dup, NC_000016.9:g.71399929_71399947dup, NC_000016.9:g.71399928_71399947dup, NC_000016.9:g.71399947_71399948insTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.71399947_71399948insTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.71399947_71399948insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.71399947_71399948insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.71399947_71399948insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.71399947_71399948insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.71399947_71399948insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.71399947_71399948insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.71399947_71399948insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.71399947_71399948insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.71399947_71399948insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.71399947_71399948insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.71399947_71399948insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_013171813.1:g.233530_233542del, NW_013171813.1:g.233534_233542del, NW_013171813.1:g.233536_233542del, NW_013171813.1:g.233538_233542del, NW_013171813.1:g.233539_233542del, NW_013171813.1:g.233540_233542del, NW_013171813.1:g.233541_233542del, NW_013171813.1:g.233542del, NW_013171813.1:g.233542dup, NW_013171813.1:g.233541_233542dup, NW_013171813.1:g.233540_233542dup, NW_013171813.1:g.233539_233542dup, NW_013171813.1:g.233538_233542dup, NW_013171813.1:g.233537_233542dup, NW_013171813.1:g.233536_233542dup, NW_013171813.1:g.233534_233542dup, NW_013171813.1:g.233533_233542dup, NW_013171813.1:g.233532_233542dup, NW_013171813.1:g.233531_233542dup, NW_013171813.1:g.233530_233542dup, NW_013171813.1:g.233529_233542dup, NW_013171813.1:g.233528_233542dup, NW_013171813.1:g.233527_233542dup, NW_013171813.1:g.233526_233542dup, NW_013171813.1:g.233525_233542dup, NW_013171813.1:g.233524_233542dup, NW_013171813.1:g.233523_233542dup, NW_013171813.1:g.233522_233542dup, NW_013171813.1:g.233520_233542dup, NW_013171813.1:g.233515_233542dup, NW_013171813.1:g.233513_233542dup, NW_013171813.1:g.233512_233542dup, NW_013171813.1:g.233510_233542dup, NW_013171813.1:g.233509_233542dup, NW_013171813.1:g.233508_233542dup, NW_013171813.1:g.233507_233542dup, NW_013171813.1:g.233505_233542dup, NW_013171813.1:g.233503_233542dup, NW_013171813.1:g.233542_233543insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_013171813.1:g.233542_233543insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XR_001756941.2:n.1882_1894del, XR_001756941.2:n.1886_1894del, XR_001756941.2:n.1888_1894del, XR_001756941.2:n.1890_1894del, XR_001756941.2:n.1891_1894del, XR_001756941.2:n.1892_1894del, XR_001756941.2:n.1893_1894del, XR_001756941.2:n.1894del, XR_001756941.2:n.1894dup, XR_001756941.2:n.1893_1894dup, XR_001756941.2:n.1892_1894dup, XR_001756941.2:n.1891_1894dup, XR_001756941.2:n.1890_1894dup, XR_001756941.2:n.1889_1894dup, XR_001756941.2:n.1888_1894dup, XR_001756941.2:n.1886_1894dup, XR_001756941.2:n.1885_1894dup, XR_001756941.2:n.1884_1894dup, XR_001756941.2:n.1883_1894dup, XR_001756941.2:n.1882_1894dup, XR_001756941.2:n.1881_1894dup, XR_001756941.2:n.1880_1894dup, XR_001756941.2:n.1879_1894dup, XR_001756941.2:n.1878_1894dup, XR_001756941.2:n.1877_1894dup, XR_001756941.2:n.1876_1894dup, XR_001756941.2:n.1875_1894dup, XR_001756941.2:n.1874_1894dup, XR_001756941.2:n.1872_1894dup, XR_001756941.2:n.1867_1894dup, XR_001756941.2:n.1865_1894dup, XR_001756941.2:n.1864_1894dup, XR_001756941.2:n.1862_1894dup, XR_001756941.2:n.1861_1894dup, XR_001756941.2:n.1860_1894dup, XR_001756941.2:n.1859_1894dup, XR_001756941.2:n.1857_1894dup, XR_001756941.2:n.1855_1894dup, XR_001756941.2:n.1894_1895insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XR_001756941.2:n.1894_1895insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          5.

          rs1491433589 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            ->C
            Chromosome:
            no mapping
            Canonical SPDI:
            6.

            rs1491402750 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              16:71388997 (GRCh38)
              16:71422900 (GRCh37)
              Canonical SPDI:
              NC_000016.10:71388996:CA:
              Gene:
              CALB2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0.00295/35 (ALFA)
              HGVS:
              7.

              rs1491282121 has merged into rs35662480 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                16:71356956 (GRCh38)
                16:71390859 (GRCh37)
                Canonical SPDI:
                NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71356943:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                CALB2 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTT=0./0 (ALFA)
                HGVS:
                NC_000016.10:g.71356956_71356974del, NC_000016.10:g.71356957_71356974del, NC_000016.10:g.71356958_71356974del, NC_000016.10:g.71356959_71356974del, NC_000016.10:g.71356960_71356974del, NC_000016.10:g.71356961_71356974del, NC_000016.10:g.71356962_71356974del, NC_000016.10:g.71356963_71356974del, NC_000016.10:g.71356964_71356974del, NC_000016.10:g.71356965_71356974del, NC_000016.10:g.71356966_71356974del, NC_000016.10:g.71356967_71356974del, NC_000016.10:g.71356968_71356974del, NC_000016.10:g.71356969_71356974del, NC_000016.10:g.71356970_71356974del, NC_000016.10:g.71356971_71356974del, NC_000016.10:g.71356972_71356974del, NC_000016.10:g.71356973_71356974del, NC_000016.10:g.71356974del, NC_000016.10:g.71356974dup, NC_000016.10:g.71356973_71356974dup, NC_000016.10:g.71356972_71356974dup, NC_000016.10:g.71356971_71356974dup, NC_000016.10:g.71356970_71356974dup, NC_000016.10:g.71356969_71356974dup, NC_000016.10:g.71356968_71356974dup, NC_000016.10:g.71356967_71356974dup, NC_000016.10:g.71356966_71356974dup, NC_000016.10:g.71356965_71356974dup, NC_000016.10:g.71356964_71356974dup, NC_000016.10:g.71356963_71356974dup, NC_000016.10:g.71356962_71356974dup, NC_000016.10:g.71356961_71356974dup, NC_000016.10:g.71356960_71356974dup, NC_000016.10:g.71356959_71356974dup, NC_000016.10:g.71356958_71356974dup, NC_000016.10:g.71356957_71356974dup, NC_000016.10:g.71356956_71356974dup, NC_000016.10:g.71356955_71356974dup, NC_000016.10:g.71356954_71356974dup, NC_000016.10:g.71356953_71356974dup, NC_000016.10:g.71356952_71356974dup, NC_000016.10:g.71356951_71356974dup, NC_000016.10:g.71356950_71356974dup, NC_000016.10:g.71356949_71356974dup, NC_000016.10:g.71356948_71356974dup, NC_000016.10:g.71356974_71356975insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.71390859_71390877del, NC_000016.9:g.71390860_71390877del, NC_000016.9:g.71390861_71390877del, NC_000016.9:g.71390862_71390877del, NC_000016.9:g.71390863_71390877del, NC_000016.9:g.71390864_71390877del, NC_000016.9:g.71390865_71390877del, NC_000016.9:g.71390866_71390877del, NC_000016.9:g.71390867_71390877del, NC_000016.9:g.71390868_71390877del, NC_000016.9:g.71390869_71390877del, NC_000016.9:g.71390870_71390877del, NC_000016.9:g.71390871_71390877del, NC_000016.9:g.71390872_71390877del, NC_000016.9:g.71390873_71390877del, NC_000016.9:g.71390874_71390877del, NC_000016.9:g.71390875_71390877del, NC_000016.9:g.71390876_71390877del, NC_000016.9:g.71390877del, NC_000016.9:g.71390877dup, NC_000016.9:g.71390876_71390877dup, NC_000016.9:g.71390875_71390877dup, NC_000016.9:g.71390874_71390877dup, NC_000016.9:g.71390873_71390877dup, NC_000016.9:g.71390872_71390877dup, NC_000016.9:g.71390871_71390877dup, NC_000016.9:g.71390870_71390877dup, NC_000016.9:g.71390869_71390877dup, NC_000016.9:g.71390868_71390877dup, NC_000016.9:g.71390867_71390877dup, NC_000016.9:g.71390866_71390877dup, NC_000016.9:g.71390865_71390877dup, NC_000016.9:g.71390864_71390877dup, NC_000016.9:g.71390863_71390877dup, NC_000016.9:g.71390862_71390877dup, NC_000016.9:g.71390861_71390877dup, NC_000016.9:g.71390860_71390877dup, NC_000016.9:g.71390859_71390877dup, NC_000016.9:g.71390858_71390877dup, NC_000016.9:g.71390857_71390877dup, NC_000016.9:g.71390856_71390877dup, NC_000016.9:g.71390855_71390877dup, NC_000016.9:g.71390854_71390877dup, NC_000016.9:g.71390853_71390877dup, NC_000016.9:g.71390852_71390877dup, NC_000016.9:g.71390851_71390877dup, NC_000016.9:g.71390877_71390878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_013171813.1:g.224433_224451del, NW_013171813.1:g.224434_224451del, NW_013171813.1:g.224435_224451del, NW_013171813.1:g.224436_224451del, NW_013171813.1:g.224437_224451del, NW_013171813.1:g.224438_224451del, NW_013171813.1:g.224439_224451del, NW_013171813.1:g.224440_224451del, NW_013171813.1:g.224441_224451del, NW_013171813.1:g.224442_224451del, NW_013171813.1:g.224443_224451del, NW_013171813.1:g.224444_224451del, NW_013171813.1:g.224445_224451del, NW_013171813.1:g.224446_224451del, NW_013171813.1:g.224447_224451del, NW_013171813.1:g.224448_224451del, NW_013171813.1:g.224449_224451del, NW_013171813.1:g.224450_224451del, NW_013171813.1:g.224451del, NW_013171813.1:g.224451dup, NW_013171813.1:g.224450_224451dup, NW_013171813.1:g.224449_224451dup, NW_013171813.1:g.224448_224451dup, NW_013171813.1:g.224447_224451dup, NW_013171813.1:g.224446_224451dup, NW_013171813.1:g.224445_224451dup, NW_013171813.1:g.224444_224451dup, NW_013171813.1:g.224443_224451dup, NW_013171813.1:g.224442_224451dup, NW_013171813.1:g.224441_224451dup, NW_013171813.1:g.224440_224451dup, NW_013171813.1:g.224439_224451dup, NW_013171813.1:g.224438_224451dup, NW_013171813.1:g.224437_224451dup, NW_013171813.1:g.224436_224451dup, NW_013171813.1:g.224435_224451dup, NW_013171813.1:g.224434_224451dup, NW_013171813.1:g.224433_224451dup, NW_013171813.1:g.224432_224451dup, NW_013171813.1:g.224431_224451dup, NW_013171813.1:g.224430_224451dup, NW_013171813.1:g.224429_224451dup, NW_013171813.1:g.224428_224451dup, NW_013171813.1:g.224427_224451dup, NW_013171813.1:g.224426_224451dup, NW_013171813.1:g.224425_224451dup, NW_013171813.1:g.224419_224451dup
                8.

                rs1491231709 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->C [Show Flanks]
                  Chromosome:
                  16:71384627 (GRCh38)
                  16:71418531 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:71384627::C
                  Gene:
                  CALB2 (Varview), LOC105371332 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,intron_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0.0002/1 (ALFA)
                  HGVS:
                  9.

                  rs1491157874 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GA>- [Show Flanks]
                    Chromosome:
                    16:71384630 (GRCh38)
                    16:71418533 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:71384626:AGAGA:AGA
                    Gene:
                    CALB2 (Varview), LOC105371332 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,intron_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AGA=0./0 (ALFA)
                    -=0.000024/3 (GnomAD)
                    -=0.000273/5 (TOMMO)
                    HGVS:
                    10.

                    rs1491089837 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->TAGGAGGAG [Show Flanks]
                      Chromosome:
                      16:71382032 (GRCh38)
                      16:71415936 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:71382032:AGGAGGAG:AGGAGGAGTAGGAGGAG
                      Gene:
                      CALB2 (Varview), LOC105371332 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      AGGAGGAGTAGGAGGAG=0./0 (ALFA)
                      AGGAGGAGT=0.000017/2 (GnomAD)
                      HGVS:
                      11.

                      rs1491067267 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        CC>- [Show Flanks]
                        Chromosome:
                        16:71384659 (GRCh38)
                        16:71418562 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:71384658:CC:
                        Gene:
                        CALB2 (Varview), LOC105371332 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,intron_variant,upstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        -=0.00012/3 (TOMMO)
                        HGVS:
                        12.

                        rs1491006652 has merged into rs573922741 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TT>-,T,TTT,TTTT [Show Flanks]
                          Chromosome:
                          16:71387473 (GRCh38)
                          16:71421376 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:71387461:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:71387461:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:71387461:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:71387461:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
                          Gene:
                          CALB2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TTTTTTTTTTT=0.00006/1 (ALFA)
                          T=0.00167/1 (NorthernSweden)
                          HGVS:
                          13.

                          rs1490988573 has merged into rs71153632 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                            Chromosome:
                            16:71388344 (GRCh38)
                            16:71422247 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:71388334:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                            Gene:
                            CALB2 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAAAAAA=0./0 (ALFA)
                            HGVS:
                            NC_000016.10:g.71388344_71388351del, NC_000016.10:g.71388345_71388351del, NC_000016.10:g.71388346_71388351del, NC_000016.10:g.71388347_71388351del, NC_000016.10:g.71388348_71388351del, NC_000016.10:g.71388349_71388351del, NC_000016.10:g.71388350_71388351del, NC_000016.10:g.71388351del, NC_000016.10:g.71388351dup, NC_000016.10:g.71388350_71388351dup, NC_000016.10:g.71388349_71388351dup, NC_000016.10:g.71388348_71388351dup, NC_000016.10:g.71388347_71388351dup, NC_000016.10:g.71388346_71388351dup, NC_000016.10:g.71388345_71388351dup, NC_000016.10:g.71388344_71388351dup, NC_000016.10:g.71388343_71388351dup, NC_000016.10:g.71388341_71388351dup, NC_000016.10:g.71388340_71388351dup, NC_000016.10:g.71388339_71388351dup, NC_000016.10:g.71388338_71388351dup, NC_000016.10:g.71388335_71388351dup, NC_000016.10:g.71388351_71388352insAAAAAAAAAAAAAAAAAA, NC_000016.10:g.71388351_71388352insAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.71388351_71388352insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.71388351_71388352insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.71388351_71388352insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.71422247_71422254del, NC_000016.9:g.71422248_71422254del, NC_000016.9:g.71422249_71422254del, NC_000016.9:g.71422250_71422254del, NC_000016.9:g.71422251_71422254del, NC_000016.9:g.71422252_71422254del, NC_000016.9:g.71422253_71422254del, NC_000016.9:g.71422254del, NC_000016.9:g.71422254dup, NC_000016.9:g.71422253_71422254dup, NC_000016.9:g.71422252_71422254dup, NC_000016.9:g.71422251_71422254dup, NC_000016.9:g.71422250_71422254dup, NC_000016.9:g.71422249_71422254dup, NC_000016.9:g.71422248_71422254dup, NC_000016.9:g.71422247_71422254dup, NC_000016.9:g.71422246_71422254dup, NC_000016.9:g.71422244_71422254dup, NC_000016.9:g.71422243_71422254dup, NC_000016.9:g.71422242_71422254dup, NC_000016.9:g.71422241_71422254dup, NC_000016.9:g.71422238_71422254dup, NC_000016.9:g.71422254_71422255insAAAAAAAAAAAAAAAAAA, NC_000016.9:g.71422254_71422255insAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.71422254_71422255insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.71422254_71422255insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.71422254_71422255insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_013171813.1:g.255841_255848del, NW_013171813.1:g.255842_255848del, NW_013171813.1:g.255843_255848del, NW_013171813.1:g.255844_255848del, NW_013171813.1:g.255845_255848del, NW_013171813.1:g.255846_255848del, NW_013171813.1:g.255847_255848del, NW_013171813.1:g.255848del, NW_013171813.1:g.255848dup, NW_013171813.1:g.255847_255848dup, NW_013171813.1:g.255846_255848dup, NW_013171813.1:g.255845_255848dup, NW_013171813.1:g.255844_255848dup, NW_013171813.1:g.255843_255848dup, NW_013171813.1:g.255842_255848dup, NW_013171813.1:g.255841_255848dup, NW_013171813.1:g.255840_255848dup, NW_013171813.1:g.255838_255848dup, NW_013171813.1:g.255837_255848dup, NW_013171813.1:g.255836_255848dup, NW_013171813.1:g.255835_255848dup, NW_013171813.1:g.255832_255848dup, NW_013171813.1:g.255848_255849insAAAAAAAAAAAAAAAAAA, NW_013171813.1:g.255848_255849insAAAAAAAAAAAAAAAAAAA, NW_013171813.1:g.255848_255849insAAAAAAAAAAAAAAAAAAAAAAAA, NW_013171813.1:g.255848_255849insAAAAAAAAAAAAAAAAAAAAAAAAA, NW_013171813.1:g.255848_255849insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                            14.

                            rs1490947131 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              16:71380248 (GRCh38)
                              16:71414151 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:71380247:G:A,NC_000016.10:71380247:G:C
                              Gene:
                              CALB2 (Varview), LOC105371332 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1490930687 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TACATGCACCCACATACATC>- [Show Flanks]
                                Chromosome:
                                16:71376570 (GRCh38)
                                16:71410473 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:71376555:CACCCACATACATCTACATGCACCCACATACATC:CACCCACATACATC
                                Gene:
                                CALB2 (Varview), LOC105371332 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                CACCCACATACATC=0./0 (ALFA)
                                -=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1490897484 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  16:71361163 (GRCh38)
                                  16:71395066 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:71361162:T:C
                                  Gene:
                                  CALB2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490853697 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    16:71358794 (GRCh38)
                                    16:71392697 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:71358793:T:A
                                    Gene:
                                    CALB2 (Varview)
                                    Functional Consequence:
                                    initiator_codon_variant,non_coding_transcript_variant,missense_variant
                                    HGVS:
                                    18.

                                    rs1490743979 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      16:71388857 (GRCh38)
                                      16:71422760 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:71388856:G:A
                                      Gene:
                                      CALB2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490645271 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        16:71370822 (GRCh38)
                                        16:71404725 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:71370821:C:A
                                        Gene:
                                        CALB2 (Varview), LOC105371332 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        A=0.0005/1 (Korea1K)
                                        HGVS:
                                        20.

                                        rs1490495832 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          16:71376707 (GRCh38)
                                          16:71410610 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:71376706:A:G
                                          Gene:
                                          CALB2 (Varview), LOC105371332 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          HGVS:

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