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Items: 1 to 20 of 1802

1.

rs1491572587 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->GTGTGTGTGTGTGTGTAT,GTGTTT [Show Flanks]
    Chromosome:
    1:161214299 (GRCh38)
    1:161184090 (GRCh37)
    Canonical SPDI:
    NC_000001.11:161214299:T:TGTGTGTGTGTGTGTGTAT,NC_000001.11:161214299:T:TGTGTTT
    Gene:
    FCER1G (Varview), NDUFS2 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    TGTGTTT=0./0 (ALFA)
    TGTGTGTGTGTGTGTGTA=0.000007/1 (GnomAD)
    HGVS:
    NC_000001.11:g.161214300TG[8]TAT[1], NC_000001.11:g.161214300TG[2]TTT[1], NC_000001.10:g.161184090TG[8]TAT[1], NC_000001.10:g.161184090TG[2]TTT[1], NG_013352.1:g.19986TG[8]TAT[1], NG_013352.1:g.19986TG[2]TTT[1], NM_004550.5:c.*107TG[8]TAT[1], NM_004550.5:c.*107TG[2]TTT[1], NM_004550.4:c.*107TG[8]TAT[1], NM_004550.4:c.*107TG[2]TTT[1], NM_001166159.2:c.*359TG[8]TAT[1], NM_001166159.2:c.*359TG[2]TTT[1], NM_001166159.1:c.*359TG[8]TAT[1], NM_001166159.1:c.*359TG[2]TTT[1], NM_001377301.1:c.*359TG[8]TAT[1], NM_001377301.1:c.*359TG[2]TTT[1], NM_001377300.1:c.*359TG[8]TAT[1], NM_001377300.1:c.*359TG[2]TTT[1], NM_001377298.1:c.*107TG[8]TAT[1], NM_001377298.1:c.*107TG[2]TTT[1], NR_165188.1:n.1622TG[8]TAT[1], NR_165188.1:n.1622TG[2]TTT[1], NM_001377302.1:c.*150TG[8]TAT[1], NM_001377302.1:c.*150TG[2]TTT[1], NM_001377299.1:c.*107TG[8]TAT[1], NM_001377299.1:c.*107TG[2]TTT[1], NM_001410889.1:c.*107TG[8]TAT[1], NM_001410889.1:c.*107TG[2]TTT[1], NG_029043.1:g.4004TG[8]TAT[1], NG_029043.1:g.4004TG[2]TTT[1], XM_005245209.3:c.*107TG[8]TAT[1], XM_005245209.3:c.*107TG[2]TTT[1], XM_005245209.2:c.*107TG[8]TAT[1], XM_005245209.2:c.*107TG[2]TTT[1], XM_005245209.1:c.*107TG[8]TAT[1], XM_005245209.1:c.*107TG[2]TTT[1], XM_047421267.1:c.*107TG[8]TAT[1], XM_047421267.1:c.*107TG[2]TTT[1]

    2.

    rs1491446264 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->GG [Show Flanks]
      Chromosome:
      1:161214270 (GRCh38)
      1:161184061 (GRCh37)
      Canonical SPDI:
      NC_000001.11:161214270:G:GGG
      Gene:
      FCER1G (Varview), NDUFS2 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
      HGVS:

      3.

      rs1491360299 has merged into rs10629771 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
        Chromosome:
        1:161214285 (GRCh38)
        1:161184075 (GRCh37)
        Canonical SPDI:
        NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
        Gene:
        FCER1G (Varview), NDUFS2 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
        Clinical significance:
        likely-benign,benign,uncertain-significance
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
        HGVS:
        NC_000001.11:g.161214271GT[7], NC_000001.11:g.161214271GT[9], NC_000001.11:g.161214271GT[10], NC_000001.11:g.161214271GT[11], NC_000001.11:g.161214271GT[12], NC_000001.11:g.161214271GT[13], NC_000001.11:g.161214271GT[14], NC_000001.11:g.161214271GT[16], NC_000001.11:g.161214271GT[17], NC_000001.11:g.161214271GT[18], NC_000001.11:g.161214271GT[19], NC_000001.11:g.161214271GT[20], NC_000001.11:g.161214271GT[21], NC_000001.11:g.161214271GT[22], NC_000001.11:g.161214271GT[23], NC_000001.11:g.161214271GT[24], NC_000001.11:g.161214271GT[25], NC_000001.11:g.161214271GT[26], NC_000001.10:g.161184061GT[7], NC_000001.10:g.161184061GT[9], NC_000001.10:g.161184061GT[10], NC_000001.10:g.161184061GT[11], NC_000001.10:g.161184061GT[12], NC_000001.10:g.161184061GT[13], NC_000001.10:g.161184061GT[14], NC_000001.10:g.161184061GT[16], NC_000001.10:g.161184061GT[17], NC_000001.10:g.161184061GT[18], NC_000001.10:g.161184061GT[19], NC_000001.10:g.161184061GT[20], NC_000001.10:g.161184061GT[21], NC_000001.10:g.161184061GT[22], NC_000001.10:g.161184061GT[23], NC_000001.10:g.161184061GT[24], NC_000001.10:g.161184061GT[25], NC_000001.10:g.161184061GT[26], NG_013352.1:g.19957GT[7], NG_013352.1:g.19957GT[9], NG_013352.1:g.19957GT[10], NG_013352.1:g.19957GT[11], NG_013352.1:g.19957GT[12], NG_013352.1:g.19957GT[13], NG_013352.1:g.19957GT[14], NG_013352.1:g.19957GT[16], NG_013352.1:g.19957GT[17], NG_013352.1:g.19957GT[18], NG_013352.1:g.19957GT[19], NG_013352.1:g.19957GT[20], NG_013352.1:g.19957GT[21], NG_013352.1:g.19957GT[22], NG_013352.1:g.19957GT[23], NG_013352.1:g.19957GT[24], NG_013352.1:g.19957GT[25], NG_013352.1:g.19957GT[26], NM_004550.5:c.*78GT[7], NM_004550.5:c.*78GT[9], NM_004550.5:c.*78GT[10], NM_004550.5:c.*78GT[11], NM_004550.5:c.*78GT[12], NM_004550.5:c.*78GT[13], NM_004550.5:c.*78GT[14], NM_004550.5:c.*78GT[16], NM_004550.5:c.*78GT[17], NM_004550.5:c.*78GT[18], NM_004550.5:c.*78GT[19], NM_004550.5:c.*78GT[20], NM_004550.5:c.*78GT[21], NM_004550.5:c.*78GT[22], NM_004550.5:c.*78GT[23], NM_004550.5:c.*78GT[24], NM_004550.5:c.*78GT[25], NM_004550.5:c.*78GT[26], NM_004550.4:c.*78GT[7], NM_004550.4:c.*78GT[9], NM_004550.4:c.*78GT[10], NM_004550.4:c.*78GT[11], NM_004550.4:c.*78GT[12], NM_004550.4:c.*78GT[13], NM_004550.4:c.*78GT[14], NM_004550.4:c.*78GT[16], NM_004550.4:c.*78GT[17], NM_004550.4:c.*78GT[18], NM_004550.4:c.*78GT[19], NM_004550.4:c.*78GT[20], NM_004550.4:c.*78GT[21], NM_004550.4:c.*78GT[22], NM_004550.4:c.*78GT[23], NM_004550.4:c.*78GT[24], NM_004550.4:c.*78GT[25], NM_004550.4:c.*78GT[26], NM_001166159.2:c.*330GT[7], NM_001166159.2:c.*330GT[9], NM_001166159.2:c.*330GT[10], NM_001166159.2:c.*330GT[11], NM_001166159.2:c.*330GT[12], NM_001166159.2:c.*330GT[13], NM_001166159.2:c.*330GT[14], NM_001166159.2:c.*330GT[16], NM_001166159.2:c.*330GT[17], NM_001166159.2:c.*330GT[18], NM_001166159.2:c.*330GT[19], NM_001166159.2:c.*330GT[20], NM_001166159.2:c.*330GT[21], NM_001166159.2:c.*330GT[22], NM_001166159.2:c.*330GT[23], NM_001166159.2:c.*330GT[24], NM_001166159.2:c.*330GT[25], NM_001166159.2:c.*330GT[26], NM_001166159.1:c.*330GT[7], NM_001166159.1:c.*330GT[9], NM_001166159.1:c.*330GT[10], NM_001166159.1:c.*330GT[11], NM_001166159.1:c.*330GT[12], NM_001166159.1:c.*330GT[13], NM_001166159.1:c.*330GT[14], NM_001166159.1:c.*330GT[16], NM_001166159.1:c.*330GT[17], NM_001166159.1:c.*330GT[18], NM_001166159.1:c.*330GT[19], NM_001166159.1:c.*330GT[20], NM_001166159.1:c.*330GT[21], NM_001166159.1:c.*330GT[22], NM_001166159.1:c.*330GT[23], NM_001166159.1:c.*330GT[24], NM_001166159.1:c.*330GT[25], NM_001166159.1:c.*330GT[26], NM_001377301.1:c.*330GT[7], NM_001377301.1:c.*330GT[9], NM_001377301.1:c.*330GT[10], NM_001377301.1:c.*330GT[11], NM_001377301.1:c.*330GT[12], NM_001377301.1:c.*330GT[13], NM_001377301.1:c.*330GT[14], NM_001377301.1:c.*330GT[16], NM_001377301.1:c.*330GT[17], NM_001377301.1:c.*330GT[18], NM_001377301.1:c.*330GT[19], NM_001377301.1:c.*330GT[20], NM_001377301.1:c.*330GT[21], NM_001377301.1:c.*330GT[22], NM_001377301.1:c.*330GT[23], NM_001377301.1:c.*330GT[24], NM_001377301.1:c.*330GT[25], NM_001377301.1:c.*330GT[26], NM_001377300.1:c.*330GT[7], NM_001377300.1:c.*330GT[9], NM_001377300.1:c.*330GT[10], NM_001377300.1:c.*330GT[11], NM_001377300.1:c.*330GT[12], NM_001377300.1:c.*330GT[13], NM_001377300.1:c.*330GT[14], NM_001377300.1:c.*330GT[16], NM_001377300.1:c.*330GT[17], NM_001377300.1:c.*330GT[18], NM_001377300.1:c.*330GT[19], NM_001377300.1:c.*330GT[20], NM_001377300.1:c.*330GT[21], NM_001377300.1:c.*330GT[22], NM_001377300.1:c.*330GT[23], NM_001377300.1:c.*330GT[24], NM_001377300.1:c.*330GT[25], NM_001377300.1:c.*330GT[26], NM_001377298.1:c.*78GT[7], NM_001377298.1:c.*78GT[9], NM_001377298.1:c.*78GT[10], NM_001377298.1:c.*78GT[11], NM_001377298.1:c.*78GT[12], NM_001377298.1:c.*78GT[13], NM_001377298.1:c.*78GT[14], NM_001377298.1:c.*78GT[16], NM_001377298.1:c.*78GT[17], NM_001377298.1:c.*78GT[18], NM_001377298.1:c.*78GT[19], NM_001377298.1:c.*78GT[20], NM_001377298.1:c.*78GT[21], NM_001377298.1:c.*78GT[22], NM_001377298.1:c.*78GT[23], NM_001377298.1:c.*78GT[24], NM_001377298.1:c.*78GT[25], NM_001377298.1:c.*78GT[26], NR_165188.1:n.1593GT[7], NR_165188.1:n.1593GT[9], NR_165188.1:n.1593GT[10], NR_165188.1:n.1593GT[11], NR_165188.1:n.1593GT[12], NR_165188.1:n.1593GT[13], NR_165188.1:n.1593GT[14], NR_165188.1:n.1593GT[16], NR_165188.1:n.1593GT[17], NR_165188.1:n.1593GT[18], NR_165188.1:n.1593GT[19], NR_165188.1:n.1593GT[20], NR_165188.1:n.1593GT[21], NR_165188.1:n.1593GT[22], NR_165188.1:n.1593GT[23], NR_165188.1:n.1593GT[24], NR_165188.1:n.1593GT[25], NR_165188.1:n.1593GT[26], NM_001377302.1:c.*121GT[7], NM_001377302.1:c.*121GT[9], NM_001377302.1:c.*121GT[10], NM_001377302.1:c.*121GT[11], NM_001377302.1:c.*121GT[12], NM_001377302.1:c.*121GT[13], NM_001377302.1:c.*121GT[14], NM_001377302.1:c.*121GT[16], NM_001377302.1:c.*121GT[17], NM_001377302.1:c.*121GT[18], NM_001377302.1:c.*121GT[19], NM_001377302.1:c.*121GT[20], NM_001377302.1:c.*121GT[21], NM_001377302.1:c.*121GT[22], NM_001377302.1:c.*121GT[23], NM_001377302.1:c.*121GT[24], NM_001377302.1:c.*121GT[25], NM_001377302.1:c.*121GT[26], NM_001377299.1:c.*78GT[7], NM_001377299.1:c.*78GT[9], NM_001377299.1:c.*78GT[10], NM_001377299.1:c.*78GT[11], NM_001377299.1:c.*78GT[12], NM_001377299.1:c.*78GT[13], NM_001377299.1:c.*78GT[14], NM_001377299.1:c.*78GT[16], NM_001377299.1:c.*78GT[17], NM_001377299.1:c.*78GT[18], NM_001377299.1:c.*78GT[19], NM_001377299.1:c.*78GT[20], NM_001377299.1:c.*78GT[21], NM_001377299.1:c.*78GT[22], NM_001377299.1:c.*78GT[23], NM_001377299.1:c.*78GT[24], NM_001377299.1:c.*78GT[25], NM_001377299.1:c.*78GT[26], NM_001410889.1:c.*78GT[7], NM_001410889.1:c.*78GT[9], NM_001410889.1:c.*78GT[10], NM_001410889.1:c.*78GT[11], NM_001410889.1:c.*78GT[12], NM_001410889.1:c.*78GT[13], NM_001410889.1:c.*78GT[14], NM_001410889.1:c.*78GT[16], NM_001410889.1:c.*78GT[17], NM_001410889.1:c.*78GT[18], NM_001410889.1:c.*78GT[19], NM_001410889.1:c.*78GT[20], NM_001410889.1:c.*78GT[21], NM_001410889.1:c.*78GT[22], NM_001410889.1:c.*78GT[23], NM_001410889.1:c.*78GT[24], NM_001410889.1:c.*78GT[25], NM_001410889.1:c.*78GT[26], NG_029043.1:g.3975GT[7], NG_029043.1:g.3975GT[9], NG_029043.1:g.3975GT[10], NG_029043.1:g.3975GT[11], NG_029043.1:g.3975GT[12], NG_029043.1:g.3975GT[13], NG_029043.1:g.3975GT[14], NG_029043.1:g.3975GT[16], NG_029043.1:g.3975GT[17], NG_029043.1:g.3975GT[18], NG_029043.1:g.3975GT[19], NG_029043.1:g.3975GT[20], NG_029043.1:g.3975GT[21], NG_029043.1:g.3975GT[22], NG_029043.1:g.3975GT[23], NG_029043.1:g.3975GT[24], NG_029043.1:g.3975GT[25], NG_029043.1:g.3975GT[26], XM_005245209.3:c.*78GT[7], XM_005245209.3:c.*78GT[9], XM_005245209.3:c.*78GT[10], XM_005245209.3:c.*78GT[11], XM_005245209.3:c.*78GT[12], XM_005245209.3:c.*78GT[13], XM_005245209.3:c.*78GT[14], XM_005245209.3:c.*78GT[16], XM_005245209.3:c.*78GT[17], XM_005245209.3:c.*78GT[18], XM_005245209.3:c.*78GT[19], XM_005245209.3:c.*78GT[20], XM_005245209.3:c.*78GT[21], XM_005245209.3:c.*78GT[22], XM_005245209.3:c.*78GT[23], XM_005245209.3:c.*78GT[24], XM_005245209.3:c.*78GT[25], XM_005245209.3:c.*78GT[26], XM_005245209.2:c.*78GT[7], XM_005245209.2:c.*78GT[9], XM_005245209.2:c.*78GT[10], XM_005245209.2:c.*78GT[11], XM_005245209.2:c.*78GT[12], XM_005245209.2:c.*78GT[13], XM_005245209.2:c.*78GT[14], XM_005245209.2:c.*78GT[16], XM_005245209.2:c.*78GT[17], XM_005245209.2:c.*78GT[18], XM_005245209.2:c.*78GT[19], XM_005245209.2:c.*78GT[20], XM_005245209.2:c.*78GT[21], XM_005245209.2:c.*78GT[22], XM_005245209.2:c.*78GT[23], XM_005245209.2:c.*78GT[24], XM_005245209.2:c.*78GT[25], XM_005245209.2:c.*78GT[26], XM_005245209.1:c.*78GT[7], XM_005245209.1:c.*78GT[9], XM_005245209.1:c.*78GT[10], XM_005245209.1:c.*78GT[11], XM_005245209.1:c.*78GT[12], XM_005245209.1:c.*78GT[13], XM_005245209.1:c.*78GT[14], XM_005245209.1:c.*78GT[16], XM_005245209.1:c.*78GT[17], XM_005245209.1:c.*78GT[18], XM_005245209.1:c.*78GT[19], XM_005245209.1:c.*78GT[20], XM_005245209.1:c.*78GT[21], XM_005245209.1:c.*78GT[22], XM_005245209.1:c.*78GT[23], XM_005245209.1:c.*78GT[24], XM_005245209.1:c.*78GT[25], XM_005245209.1:c.*78GT[26], XM_047421267.1:c.*78GT[7], XM_047421267.1:c.*78GT[9], XM_047421267.1:c.*78GT[10], XM_047421267.1:c.*78GT[11], XM_047421267.1:c.*78GT[12], XM_047421267.1:c.*78GT[13], XM_047421267.1:c.*78GT[14], XM_047421267.1:c.*78GT[16], XM_047421267.1:c.*78GT[17], XM_047421267.1:c.*78GT[18], XM_047421267.1:c.*78GT[19], XM_047421267.1:c.*78GT[20], XM_047421267.1:c.*78GT[21], XM_047421267.1:c.*78GT[22], XM_047421267.1:c.*78GT[23], XM_047421267.1:c.*78GT[24], XM_047421267.1:c.*78GT[25], XM_047421267.1:c.*78GT[26]

        4.

        rs1491306537 has merged into rs886045468 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AT>-,ATAT [Show Flanks]
          Chromosome:
          1:161214301 (GRCh38)
          1:161184091 (GRCh37)
          Canonical SPDI:
          NC_000001.11:161214299:TAT:T,NC_000001.11:161214299:TAT:TATAT
          Gene:
          FCER1G (Varview), NDUFS2 (Varview)
          Functional Consequence:
          2KB_upstream_variant,non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant
          Clinical significance:
          uncertain-significance
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TATAT=0./0 (ALFA)
          HGVS:
          NC_000001.11:g.161214301_161214302del, NC_000001.11:g.161214301_161214302dup, NC_000001.10:g.161184091_161184092del, NC_000001.10:g.161184091_161184092dup, NG_013352.1:g.19987_19988del, NG_013352.1:g.19987_19988dup, NM_004550.5:c.*108_*109del, NM_004550.5:c.*108_*109dup, NM_004550.4:c.*108_*109del, NM_004550.4:c.*108_*109dup, NM_001166159.2:c.*360_*361del, NM_001166159.2:c.*360_*361dup, NM_001166159.1:c.*360_*361del, NM_001166159.1:c.*360_*361dup, NM_001377301.1:c.*360_*361del, NM_001377301.1:c.*360_*361dup, NM_001377300.1:c.*360_*361del, NM_001377300.1:c.*360_*361dup, NM_001377298.1:c.*108_*109del, NM_001377298.1:c.*108_*109dup, NR_165188.1:n.1623_1624del, NR_165188.1:n.1623_1624dup, NM_001377302.1:c.*151_*152del, NM_001377302.1:c.*151_*152dup, NM_001377299.1:c.*108_*109del, NM_001377299.1:c.*108_*109dup, NM_001410889.1:c.*108_*109del, NM_001410889.1:c.*108_*109dup, NG_029043.1:g.4005_4006del, NG_029043.1:g.4005_4006dup, XM_005245209.3:c.*108_*109del, XM_005245209.3:c.*108_*109dup, XM_005245209.2:c.*108_*109del, XM_005245209.2:c.*108_*109dup, XM_005245209.1:c.*108_*109del, XM_005245209.1:c.*108_*109dup, XM_047421267.1:c.*108_*109del, XM_047421267.1:c.*108_*109dup

          5.

          rs1491150470 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->CACACACACACACACACACACACATATA,CACACACACACACACACACACATATA,CACACACACACACACACACATA,CACACACACACACACACATA,CACACACACACACACACATATA,CACACACACACACACATA,CACACACACACACACATATATA,CACACACACACACATA,CACACACACACACATATA,CACACACACACATA,CACACACACACATATA,CACACACACATA,CACACACACATATA,CACACACATA,CACACACATATA,CACACACATATATA,CACACATA,CACACATATA,CACACATATATA,CACACATATATATA,CACATA,CACATATA,CACATATATA,CATA,CATATA,CATATATA,CATATATATA [Show Flanks]
            Chromosome:
            1:161216411 (GRCh38)
            1:161186202 (GRCh37)
            Canonical SPDI:
            NC_000001.11:161216411:A:ACACACACACACACACACACACACATATA,NC_000001.11:161216411:A:ACACACACACACACACACACACATATA,NC_000001.11:161216411:A:ACACACACACACACACACACATA,NC_000001.11:161216411:A:ACACACACACACACACACATA,NC_000001.11:161216411:A:ACACACACACACACACACATATA,NC_000001.11:161216411:A:ACACACACACACACACATA,NC_000001.11:161216411:A:ACACACACACACACACATATATA,NC_000001.11:161216411:A:ACACACACACACACATA,NC_000001.11:161216411:A:ACACACACACACACATATA,NC_000001.11:161216411:A:ACACACACACACATA,NC_000001.11:161216411:A:ACACACACACACATATA,NC_000001.11:161216411:A:ACACACACACATA,NC_000001.11:161216411:A:ACACACACACATATA,NC_000001.11:161216411:A:ACACACACATA,NC_000001.11:161216411:A:ACACACACATATA,NC_000001.11:161216411:A:ACACACACATATATA,NC_000001.11:161216411:A:ACACACATA,NC_000001.11:161216411:A:ACACACATATA,NC_000001.11:161216411:A:ACACACATATATA,NC_000001.11:161216411:A:ACACACATATATATA,NC_000001.11:161216411:A:ACACATA,NC_000001.11:161216411:A:ACACATATA,NC_000001.11:161216411:A:ACACATATATA,NC_000001.11:161216411:A:ACATA,NC_000001.11:161216411:A:ACATATA,NC_000001.11:161216411:A:ACATATATA,NC_000001.11:161216411:A:ACATATATATA
            Gene:
            FCER1G (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            ACACACACACACACACACATA=0./0 (ALFA)
            ACACACACATATAT=0.000004/1 (TOPMED)
            HGVS:
            NC_000001.11:g.161216412AC[12]AT[2]A[1], NC_000001.11:g.161216412AC[11]AT[2]A[1], NC_000001.11:g.161216412AC[10]ATA[1], NC_000001.11:g.161216412AC[9]ATA[1], NC_000001.11:g.161216412AC[9]AT[2]A[1], NC_000001.11:g.161216412AC[8]ATA[1], NC_000001.11:g.161216412AC[8]AT[3]A[1], NC_000001.11:g.161216412AC[7]ATA[1], NC_000001.11:g.161216412AC[7]AT[2]A[1], NC_000001.11:g.161216412AC[6]ATA[1], NC_000001.11:g.161216412AC[6]AT[2]A[1], NC_000001.11:g.161216412AC[5]ATA[1], NC_000001.11:g.161216412AC[5]AT[2]A[1], NC_000001.11:g.161216412AC[4]ATA[1], NC_000001.11:g.161216412AC[4]AT[2]A[1], NC_000001.11:g.161216412AC[4]AT[3]A[1], NC_000001.11:g.161216412AC[3]ATA[1], NC_000001.11:g.161216412AC[3]AT[2]A[1], NC_000001.11:g.161216412AC[3]AT[3]A[1], NC_000001.11:g.161216412AC[3]AT[4]A[1], NC_000001.11:g.161216412AC[2]ATA[1], NC_000001.11:g.161216412AC[2]AT[2]A[1], NC_000001.11:g.161216412AC[2]AT[3]A[1], NC_000001.11:g.161216412_161216413insCATA, NC_000001.11:g.161216412_161216413insCATATA, NC_000001.11:g.161216412_161216413insCATATATA, NC_000001.11:g.161216412_161216413insCATATATATA, NC_000001.10:g.161186202AC[12]AT[2]A[1], NC_000001.10:g.161186202AC[11]AT[2]A[1], NC_000001.10:g.161186202AC[10]ATA[1], NC_000001.10:g.161186202AC[9]ATA[1], NC_000001.10:g.161186202AC[9]AT[2]A[1], NC_000001.10:g.161186202AC[8]ATA[1], NC_000001.10:g.161186202AC[8]AT[3]A[1], NC_000001.10:g.161186202AC[7]ATA[1], NC_000001.10:g.161186202AC[7]AT[2]A[1], NC_000001.10:g.161186202AC[6]ATA[1], NC_000001.10:g.161186202AC[6]AT[2]A[1], NC_000001.10:g.161186202AC[5]ATA[1], NC_000001.10:g.161186202AC[5]AT[2]A[1], NC_000001.10:g.161186202AC[4]ATA[1], NC_000001.10:g.161186202AC[4]AT[2]A[1], NC_000001.10:g.161186202AC[4]AT[3]A[1], NC_000001.10:g.161186202AC[3]ATA[1], NC_000001.10:g.161186202AC[3]AT[2]A[1], NC_000001.10:g.161186202AC[3]AT[3]A[1], NC_000001.10:g.161186202AC[3]AT[4]A[1], NC_000001.10:g.161186202AC[2]ATA[1], NC_000001.10:g.161186202AC[2]AT[2]A[1], NC_000001.10:g.161186202AC[2]AT[3]A[1], NC_000001.10:g.161186202_161186203insCATA, NC_000001.10:g.161186202_161186203insCATATA, NC_000001.10:g.161186202_161186203insCATATATA, NC_000001.10:g.161186202_161186203insCATATATATA, NG_029043.1:g.6116AC[12]AT[2]A[1], NG_029043.1:g.6116AC[11]AT[2]A[1], NG_029043.1:g.6116AC[10]ATA[1], NG_029043.1:g.6116AC[9]ATA[1], NG_029043.1:g.6116AC[9]AT[2]A[1], NG_029043.1:g.6116AC[8]ATA[1], NG_029043.1:g.6116AC[8]AT[3]A[1], NG_029043.1:g.6116AC[7]ATA[1], NG_029043.1:g.6116AC[7]AT[2]A[1], NG_029043.1:g.6116AC[6]ATA[1], NG_029043.1:g.6116AC[6]AT[2]A[1], NG_029043.1:g.6116AC[5]ATA[1], NG_029043.1:g.6116AC[5]AT[2]A[1], NG_029043.1:g.6116AC[4]ATA[1], NG_029043.1:g.6116AC[4]AT[2]A[1], NG_029043.1:g.6116AC[4]AT[3]A[1], NG_029043.1:g.6116AC[3]ATA[1], NG_029043.1:g.6116AC[3]AT[2]A[1], NG_029043.1:g.6116AC[3]AT[3]A[1], NG_029043.1:g.6116AC[3]AT[4]A[1], NG_029043.1:g.6116AC[2]ATA[1], NG_029043.1:g.6116AC[2]AT[2]A[1], NG_029043.1:g.6116AC[2]AT[3]A[1], NG_029043.1:g.6116_6117insCATA, NG_029043.1:g.6116_6117insCATATA, NG_029043.1:g.6116_6117insCATATATA, NG_029043.1:g.6116_6117insCATATATATA

            6.

            rs1490697003 has merged into rs543686283 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA [Show Flanks]
              Chromosome:
              1:161216443 (GRCh38)
              1:161186233 (GRCh37)
              Canonical SPDI:
              NC_000001.11:161216427:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000001.11:161216427:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000001.11:161216427:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000001.11:161216427:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000001.11:161216427:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA,NC_000001.11:161216427:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000001.11:161216427:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000001.11:161216427:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000001.11:161216427:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000001.11:161216427:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
              Gene:
              FCER1G (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AGAGAGAGAGAGAGAGA=0./0 (ALFA)
              HGVS:
              NC_000001.11:g.161216429GA[7], NC_000001.11:g.161216429GA[8], NC_000001.11:g.161216429GA[9], NC_000001.11:g.161216429GA[10], NC_000001.11:g.161216429GA[12], NC_000001.11:g.161216429GA[13], NC_000001.11:g.161216429GA[14], NC_000001.11:g.161216429GA[15], NC_000001.11:g.161216429GA[16], NC_000001.11:g.161216429GA[17], NC_000001.10:g.161186219GA[7], NC_000001.10:g.161186219GA[8], NC_000001.10:g.161186219GA[9], NC_000001.10:g.161186219GA[10], NC_000001.10:g.161186219GA[12], NC_000001.10:g.161186219GA[13], NC_000001.10:g.161186219GA[14], NC_000001.10:g.161186219GA[15], NC_000001.10:g.161186219GA[16], NC_000001.10:g.161186219GA[17], NG_029043.1:g.6133GA[7], NG_029043.1:g.6133GA[8], NG_029043.1:g.6133GA[9], NG_029043.1:g.6133GA[10], NG_029043.1:g.6133GA[12], NG_029043.1:g.6133GA[13], NG_029043.1:g.6133GA[14], NG_029043.1:g.6133GA[15], NG_029043.1:g.6133GA[16], NG_029043.1:g.6133GA[17]

              7.

              rs1490138557 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                1:161219120 (GRCh38)
                1:161188910 (GRCh37)
                Canonical SPDI:
                NC_000001.11:161219119:G:C
                Gene:
                FCER1G (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000014/2 (GnomAD)
                C=0.000015/4 (TOPMED)
                HGVS:

                8.

                rs1489894674 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,G [Show Flanks]
                  Chromosome:
                  1:161215793 (GRCh38)
                  1:161185583 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:161215792:A:C,NC_000001.11:161215792:A:G
                  Gene:
                  FCER1G (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  C=0.000035/1 (TOMMO)
                  HGVS:

                  9.

                  rs1489325223 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,G [Show Flanks]
                    Chromosome:
                    1:161218291 (GRCh38)
                    1:161188081 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:161218290:A:C,NC_000001.11:161218290:A:G
                    Gene:
                    FCER1G (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000014/2 (GnomAD)
                    HGVS:

                    10.

                    rs1489130124 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:161215482 (GRCh38)
                      1:161185272 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:161215481:G:A
                      Gene:
                      FCER1G (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1488764148 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        1:161219371 (GRCh38)
                        1:161189161 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:161219370:T:C
                        Gene:
                        FCER1G (Varview)
                        Functional Consequence:
                        500B_downstream_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000014/2 (GnomAD)
                        HGVS:

                        12.

                        rs1488148345 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G,T [Show Flanks]
                          Chromosome:
                          1:161216320 (GRCh38)
                          1:161186110 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:161216319:A:G,NC_000001.11:161216319:A:T
                          Gene:
                          FCER1G (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:

                          13.

                          rs1488096780 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            1:161214352 (GRCh38)
                            1:161184142 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:161214351:A:G
                            Gene:
                            FCER1G (Varview), NDUFS2 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000019/5 (TOPMED)
                            G=0.000495/8 (TOMMO)
                            G=0.000684/2 (KOREAN)
                            G=0.003275/6 (Korea1K)
                            HGVS:

                            14.

                            rs1488004480 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              1:161215055 (GRCh38)
                              1:161184845 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:161215054:G:T
                              Gene:
                              FCER1G (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000008/2 (TOPMED)
                              HGVS:

                              15.

                              rs1487988191 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:161213654 (GRCh38)
                                1:161183444 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:161213653:G:A
                                Gene:
                                FCER1G (Varview), NDUFS2 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1487584946 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  A>- [Show Flanks]
                                  Chromosome:
                                  1:161218194 (GRCh38)
                                  1:161187984 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:161218193:A:
                                  Gene:
                                  FCER1G (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0./0 (ALFA)
                                  -=0.000004/1 (GnomAD_exomes)
                                  -=0.000004/1 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1487157940 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    1:161214411 (GRCh38)
                                    1:161184201 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:161214410:T:C
                                    Gene:
                                    FCER1G (Varview), NDUFS2 (Varview)
                                    Functional Consequence:
                                    500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1486381656 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:161214699 (GRCh38)
                                      1:161184489 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:161214698:C:T
                                      Gene:
                                      FCER1G (Varview), NDUFS2 (Varview)
                                      Functional Consequence:
                                      500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000011/3 (TOPMED)
                                      T=0.000014/2 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1484908492 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        1:161219603 (GRCh38)
                                        1:161189393 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:161219602:A:G
                                        Gene:
                                        FCER1G (Varview)
                                        Functional Consequence:
                                        500B_downstream_variant,downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000071/1 (ALFA)
                                        G=0.000008/2 (TOPMED)
                                        G=0.000014/2 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1484567067 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:161213749 (GRCh38)
                                          1:161183539 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:161213748:G:A
                                          Gene:
                                          FCER1G (Varview), NDUFS2 (Varview)
                                          Functional Consequence:
                                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:

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