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Items: 1 to 20 of 837

1.

rs1490993601 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->TAATCTT [Show Flanks]
    Chromosome:
    4:20729585 (GRCh38)
    4:20731209 (GRCh37)
    Canonical SPDI:
    NC_000004.12:20729585:TAATCTT:TAATCTTTAATCTT
    Gene:
    KCNIP4 (Varview), PACRGL (Varview)
    Functional Consequence:
    intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    TAATCTTTAATCTT=0./0 (ALFA)
    TAATCTT=0.000008/2 (TOPMED)
    HGVS:
    NC_000004.12:g.20729586_20729592dup, NC_000004.11:g.20731209_20731215dup, NG_052969.1:g.1224160_1224166dup, NM_025221.6:c.*490_*496dup, NM_025221.5:c.*490_*496dup, NM_147182.4:c.*490_*496dup, NM_147182.3:c.*490_*496dup, NM_147181.4:c.*490_*496dup, NM_147181.3:c.*490_*496dup, NM_147183.3:c.*490_*496dup, NM_001035003.2:c.*490_*496dup, NM_001035003.1:c.*490_*496dup, NM_001035004.2:c.*490_*496dup, NM_001035004.1:c.*490_*496dup, NM_001363504.2:c.*490_*496dup, NM_001363504.1:c.*490_*496dup, NM_145048.5:c.*2245_*2251dup, NM_145048.4:c.*2245_*2251dup, XM_011513786.4:c.*2245_*2251dup, XM_011513786.2:c.*2245_*2251dup, XM_011513805.4:c.*2245_*2251dup, XM_011513805.2:c.*2245_*2251dup, XM_011513885.4:c.*2345_*2351dup, XM_011513885.3:c.*2345_*2351dup, XM_011513885.2:c.*2345_*2351dup, NM_001258345.3:c.*2245_*2251dup, NM_001258345.2:c.*2245_*2251dup, XM_017007747.3:c.*2245_*2251dup, XM_017007747.1:c.*2245_*2251dup, XM_017007748.3:c.*2245_*2251dup, XM_017007748.1:c.*2245_*2251dup, NR_047661.3:n.3071_3077dup, NR_047661.2:n.3116_3122dup, NM_001317849.3:c.*2245_*2251dup, NM_001317849.2:c.*2245_*2251dup, NM_001258346.3:c.*2291_*2297dup, NM_001258346.2:c.*2291_*2297dup, NM_001130727.3:c.*2245_*2251dup, NM_001130727.2:c.*2245_*2251dup, XM_017007759.3:c.*2245_*2251dup, XM_017007759.1:c.*2245_*2251dup, XM_011513784.2:c.*2291_*2297dup, XM_011513804.2:c.*2291_*2297dup, NM_001330745.2:c.*2245_*2251dup, NM_001330745.1:c.*2245_*2251dup, NM_001330746.2:c.*2245_*2251dup, NM_001330746.1:c.*2245_*2251dup, NM_001330747.2:c.*2245_*2251dup, NM_001330747.1:c.*2245_*2251dup, NM_001330748.2:c.*2245_*2251dup, NM_001330748.1:c.*2245_*2251dup, XM_047449617.1:c.*2245_*2251dup, XM_047449619.1:c.*2291_*2297dup, XM_047449621.1:c.*2245_*2251dup, XM_047449620.1:c.*2245_*2251dup, XM_047449624.1:c.*2291_*2297dup, XM_047449626.1:c.*2245_*2251dup, XM_047449618.1:c.*2245_*2251dup, XM_047449628.1:c.*2245_*2251dup, XM_047449622.1:c.*2245_*2251dup, XM_047449625.1:c.*2245_*2251dup, XM_047449627.1:c.*2245_*2251dup, XM_047449623.1:c.*2245_*2251dup

    2.

    rs1489196438 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->CTTAGTAGACAGTGG [Show Flanks]
      Chromosome:
      4:20729081 (GRCh38)
      4:20730705 (GRCh37)
      Canonical SPDI:
      NC_000004.12:20729081:CTTAGTAGACAGTGG:CTTAGTAGACAGTGGCTTAGTAGACAGTGG
      Gene:
      KCNIP4 (Varview), PACRGL (Varview)
      Functional Consequence:
      intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CTTAGTAGACAGTGGCTTAGTAGACAGTGG=0./0 (ALFA)
      CTTAGTAGACAGTGG=0.000015/4 (TOPMED)
      CTTAGTAGACAGTGG=0.000021/3 (GnomAD)
      HGVS:
      NC_000004.12:g.20729082_20729096dup, NC_000004.11:g.20730705_20730719dup, NG_052969.1:g.1224656_1224670dup, NM_025221.6:c.*986_*1000dup, NM_025221.5:c.*986_*1000dup, NM_147182.4:c.*986_*1000dup, NM_147182.3:c.*986_*1000dup, NM_147181.4:c.*986_*1000dup, NM_147181.3:c.*986_*1000dup, NM_147183.3:c.*986_*1000dup, NM_001035003.2:c.*986_*1000dup, NM_001035003.1:c.*986_*1000dup, NM_001035004.2:c.*986_*1000dup, NM_001035004.1:c.*986_*1000dup, NM_001363504.2:c.*986_*1000dup, NM_001363504.1:c.*986_*1000dup, NM_145048.5:c.*1741_*1755dup, NM_145048.4:c.*1741_*1755dup, XM_011513786.4:c.*1741_*1755dup, XM_011513786.2:c.*1741_*1755dup, XM_011513805.4:c.*1741_*1755dup, XM_011513805.2:c.*1741_*1755dup, XM_011513885.4:c.*2841_*2855dup, XM_011513885.3:c.*2841_*2855dup, XM_011513885.2:c.*2841_*2855dup, NM_001258345.3:c.*1741_*1755dup, NM_001258345.2:c.*1741_*1755dup, XM_017007747.3:c.*1741_*1755dup, XM_017007747.1:c.*1741_*1755dup, XM_017007748.3:c.*1741_*1755dup, XM_017007748.1:c.*1741_*1755dup, NR_047661.3:n.2567_2581dup, NR_047661.2:n.2612_2626dup, NM_001317849.3:c.*1741_*1755dup, NM_001317849.2:c.*1741_*1755dup, NM_001258346.3:c.*1787_*1801dup, NM_001258346.2:c.*1787_*1801dup, NM_001130727.3:c.*1741_*1755dup, NM_001130727.2:c.*1741_*1755dup, XM_017007759.3:c.*1741_*1755dup, XM_017007759.1:c.*1741_*1755dup, XM_011513784.2:c.*1787_*1801dup, XM_011513804.2:c.*1787_*1801dup, NM_001330745.2:c.*1741_*1755dup, NM_001330745.1:c.*1741_*1755dup, NM_001330746.2:c.*1741_*1755dup, NM_001330746.1:c.*1741_*1755dup, NM_001330747.2:c.*1741_*1755dup, NM_001330747.1:c.*1741_*1755dup, NM_001330748.2:c.*1741_*1755dup, NM_001330748.1:c.*1741_*1755dup, XM_047449617.1:c.*1741_*1755dup, XM_047449619.1:c.*1787_*1801dup, XM_047449621.1:c.*1741_*1755dup, XM_047449620.1:c.*1741_*1755dup, XM_047449624.1:c.*1787_*1801dup, XM_047449626.1:c.*1741_*1755dup, XM_047449618.1:c.*1741_*1755dup, XM_047449628.1:c.*1741_*1755dup, XM_047449622.1:c.*1741_*1755dup, XM_047449625.1:c.*1741_*1755dup, XM_047449627.1:c.*1741_*1755dup, XM_047449623.1:c.*1741_*1755dup

      3.

      rs1489035592 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        4:20729026 (GRCh38)
        4:20730649 (GRCh37)
        Canonical SPDI:
        NC_000004.12:20729025:G:T
        Gene:
        KCNIP4 (Varview), PACRGL (Varview)
        Functional Consequence:
        intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000008/2 (TOPMED)
        HGVS:
        NC_000004.12:g.20729026G>T, NC_000004.11:g.20730649G>T, NG_052969.1:g.1224726C>A, NM_025221.6:c.*1056C>A, NM_025221.5:c.*1056C>A, NM_147182.4:c.*1056C>A, NM_147182.3:c.*1056C>A, NM_147181.4:c.*1056C>A, NM_147181.3:c.*1056C>A, NM_147183.3:c.*1056C>A, NM_001035003.2:c.*1056C>A, NM_001035003.1:c.*1056C>A, NM_001035004.2:c.*1056C>A, NM_001035004.1:c.*1056C>A, NM_001363504.2:c.*1056C>A, NM_001363504.1:c.*1056C>A, NM_145048.5:c.*1685G>T, NM_145048.4:c.*1685G>T, XM_011513786.4:c.*1685G>T, XM_011513786.2:c.*1685G>T, XM_011513805.4:c.*1685G>T, XM_011513805.2:c.*1685G>T, XM_011513885.4:c.*2911C>A, XM_011513885.3:c.*2911C>A, XM_011513885.2:c.*2911C>A, NM_001258345.3:c.*1685G>T, NM_001258345.2:c.*1685G>T, XM_017007747.3:c.*1685G>T, XM_017007747.1:c.*1685G>T, XM_017007748.3:c.*1685G>T, XM_017007748.1:c.*1685G>T, NR_047661.3:n.2511G>T, NR_047661.2:n.2556G>T, NM_001317849.3:c.*1685G>T, NM_001317849.2:c.*1685G>T, NM_001258346.3:c.*1731G>T, NM_001258346.2:c.*1731G>T, NM_001130727.3:c.*1685G>T, NM_001130727.2:c.*1685G>T, XM_017007759.3:c.*1685G>T, XM_017007759.1:c.*1685G>T, XM_011513784.2:c.*1731G>T, XM_011513804.2:c.*1731G>T, NM_001330745.2:c.*1685G>T, NM_001330745.1:c.*1685G>T, NM_001330746.2:c.*1685G>T, NM_001330746.1:c.*1685G>T, NM_001330747.2:c.*1685G>T, NM_001330747.1:c.*1685G>T, NM_001330748.2:c.*1685G>T, NM_001330748.1:c.*1685G>T, XM_047449617.1:c.*1685G>T, XM_047449619.1:c.*1731G>T, XM_047449621.1:c.*1685G>T, XM_047449620.1:c.*1685G>T, XM_047449624.1:c.*1731G>T, XM_047449626.1:c.*1685G>T, XM_047449618.1:c.*1685G>T, XM_047449628.1:c.*1685G>T, XM_047449622.1:c.*1685G>T, XM_047449625.1:c.*1685G>T, XM_047449627.1:c.*1685G>T, XM_047449623.1:c.*1685G>T

        4.

        rs1487809426 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          4:20730063 (GRCh38)
          4:20731686 (GRCh37)
          Canonical SPDI:
          NC_000004.12:20730062:T:G
          Gene:
          KCNIP4 (Varview), PACRGL (Varview)
          Functional Consequence:
          intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000008/2 (TOPMED)
          HGVS:
          NC_000004.12:g.20730063T>G, NC_000004.11:g.20731686T>G, NG_052969.1:g.1223689A>C, NM_025221.6:c.*19A>C, NM_025221.5:c.*19A>C, NM_147182.4:c.*19A>C, NM_147182.3:c.*19A>C, NM_147181.4:c.*19A>C, NM_147181.3:c.*19A>C, NM_147183.3:c.*19A>C, NM_001035003.2:c.*19A>C, NM_001035003.1:c.*19A>C, NM_001035004.2:c.*19A>C, NM_001035004.1:c.*19A>C, NM_001363504.2:c.*19A>C, NM_001363504.1:c.*19A>C, NM_145048.5:c.*2722T>G, NM_145048.4:c.*2722T>G, XM_011513786.4:c.*2722T>G, XM_011513786.2:c.*2722T>G, XM_011513805.4:c.*2722T>G, XM_011513805.2:c.*2722T>G, XM_011513885.4:c.*1874A>C, XM_011513885.3:c.*1874A>C, XM_011513885.2:c.*1874A>C, NM_001258345.3:c.*2722T>G, NM_001258345.2:c.*2722T>G, XM_017007747.3:c.*2722T>G, XM_017007747.1:c.*2722T>G, XM_017007748.3:c.*2722T>G, XM_017007748.1:c.*2722T>G, NR_047661.3:n.3548T>G, NR_047661.2:n.3593T>G, NM_001317849.3:c.*2722T>G, NM_001317849.2:c.*2722T>G, NM_001258346.3:c.*2768T>G, NM_001258346.2:c.*2768T>G, NM_001130727.3:c.*2722T>G, NM_001130727.2:c.*2722T>G, XM_017007759.3:c.*2722T>G, XM_017007759.1:c.*2722T>G, XM_011513784.2:c.*2768T>G, XM_011513804.2:c.*2768T>G, NM_001330745.2:c.*2722T>G, NM_001330745.1:c.*2722T>G, NM_001330746.2:c.*2722T>G, NM_001330746.1:c.*2722T>G, NM_001330747.2:c.*2722T>G, NM_001330747.1:c.*2722T>G, NM_001330748.2:c.*2722T>G, NM_001330748.1:c.*2722T>G, XM_047449617.1:c.*2722T>G, XM_047449619.1:c.*2768T>G, XM_047449621.1:c.*2722T>G, XM_047449620.1:c.*2722T>G, XM_047449624.1:c.*2768T>G, XM_047449626.1:c.*2722T>G, XM_047449618.1:c.*2722T>G, XM_047449628.1:c.*2722T>G, XM_047449622.1:c.*2722T>G, XM_047449625.1:c.*2722T>G, XM_047449627.1:c.*2722T>G, XM_047449623.1:c.*2722T>G

          5.

          rs1487400587 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->ATGAGTAGCAAAAAACACTGATATTTTAAAATCACTGATATGT [Show Flanks]
            Chromosome:
            4:20729730 (GRCh38)
            4:20731354 (GRCh37)
            Canonical SPDI:
            NC_000004.12:20729730:ATGAGTAGCAAAAAACACTGATATTTTAAAATCACTGATATGT:ATGAGTAGCAAAAAACACTGATATTTTAAAATCACTGATATGTATGAGTAGCAAAAAACACTGATATTTTAAAATCACTGATATGT
            Gene:
            KCNIP4 (Varview), PACRGL (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
            Validated:
            by frequency
            MAF:
            ATGAGTAGCAAAAAACACTGATATTTTAAAATCACTGATATGT=0.00015/21 (GnomAD)
            HGVS:
            NC_000004.12:g.20729731_20729773dup, NC_000004.11:g.20731354_20731396dup, NG_052969.1:g.1223979_1224021dup, NM_025221.6:c.*309_*351dup, NM_025221.5:c.*309_*351dup, NM_147182.4:c.*309_*351dup, NM_147182.3:c.*309_*351dup, NM_147181.4:c.*309_*351dup, NM_147181.3:c.*309_*351dup, NM_147183.3:c.*309_*351dup, NM_001035003.2:c.*309_*351dup, NM_001035003.1:c.*309_*351dup, NM_001035004.2:c.*309_*351dup, NM_001035004.1:c.*309_*351dup, NM_001363504.2:c.*309_*351dup, NM_001363504.1:c.*309_*351dup, NM_145048.5:c.*2390_*2432dup, NM_145048.4:c.*2390_*2432dup, XM_011513786.4:c.*2390_*2432dup, XM_011513786.2:c.*2390_*2432dup, XM_011513805.4:c.*2390_*2432dup, XM_011513805.2:c.*2390_*2432dup, XM_011513885.4:c.*2164_*2206dup, XM_011513885.3:c.*2164_*2206dup, XM_011513885.2:c.*2164_*2206dup, NM_001258345.3:c.*2390_*2432dup, NM_001258345.2:c.*2390_*2432dup, XM_017007747.3:c.*2390_*2432dup, XM_017007747.1:c.*2390_*2432dup, XM_017007748.3:c.*2390_*2432dup, XM_017007748.1:c.*2390_*2432dup, NR_047661.3:n.3216_3258dup, NR_047661.2:n.3261_3303dup, NM_001317849.3:c.*2390_*2432dup, NM_001317849.2:c.*2390_*2432dup, NM_001258346.3:c.*2436_*2478dup, NM_001258346.2:c.*2436_*2478dup, NM_001130727.3:c.*2390_*2432dup, NM_001130727.2:c.*2390_*2432dup, XM_017007759.3:c.*2390_*2432dup, XM_017007759.1:c.*2390_*2432dup, XM_011513784.2:c.*2436_*2478dup, XM_011513804.2:c.*2436_*2478dup, NM_001330745.2:c.*2390_*2432dup, NM_001330745.1:c.*2390_*2432dup, NM_001330746.2:c.*2390_*2432dup, NM_001330746.1:c.*2390_*2432dup, NM_001330747.2:c.*2390_*2432dup, NM_001330747.1:c.*2390_*2432dup, NM_001330748.2:c.*2390_*2432dup, NM_001330748.1:c.*2390_*2432dup, XM_047449617.1:c.*2390_*2432dup, XM_047449619.1:c.*2436_*2478dup, XM_047449621.1:c.*2390_*2432dup, XM_047449620.1:c.*2390_*2432dup, XM_047449624.1:c.*2436_*2478dup, XM_047449626.1:c.*2390_*2432dup, XM_047449618.1:c.*2390_*2432dup, XM_047449628.1:c.*2390_*2432dup, XM_047449622.1:c.*2390_*2432dup, XM_047449625.1:c.*2390_*2432dup, XM_047449627.1:c.*2390_*2432dup, XM_047449623.1:c.*2390_*2432dup

            6.

            rs1487285805 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              4:20729439 (GRCh38)
              4:20731062 (GRCh37)
              Canonical SPDI:
              NC_000004.12:20729438:T:G
              Gene:
              KCNIP4 (Varview), PACRGL (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000008/2 (TOPMED)
              HGVS:
              NC_000004.12:g.20729439T>G, NC_000004.11:g.20731062T>G, NG_052969.1:g.1224313A>C, NM_025221.6:c.*643A>C, NM_025221.5:c.*643A>C, NM_147182.4:c.*643A>C, NM_147182.3:c.*643A>C, NM_147181.4:c.*643A>C, NM_147181.3:c.*643A>C, NM_147183.3:c.*643A>C, NM_001035003.2:c.*643A>C, NM_001035003.1:c.*643A>C, NM_001035004.2:c.*643A>C, NM_001035004.1:c.*643A>C, NM_001363504.2:c.*643A>C, NM_001363504.1:c.*643A>C, NM_145048.5:c.*2098T>G, NM_145048.4:c.*2098T>G, XM_011513786.4:c.*2098T>G, XM_011513786.2:c.*2098T>G, XM_011513805.4:c.*2098T>G, XM_011513805.2:c.*2098T>G, XM_011513885.4:c.*2498A>C, XM_011513885.3:c.*2498A>C, XM_011513885.2:c.*2498A>C, NM_001258345.3:c.*2098T>G, NM_001258345.2:c.*2098T>G, XM_017007747.3:c.*2098T>G, XM_017007747.1:c.*2098T>G, XM_017007748.3:c.*2098T>G, XM_017007748.1:c.*2098T>G, NR_047661.3:n.2924T>G, NR_047661.2:n.2969T>G, NM_001317849.3:c.*2098T>G, NM_001317849.2:c.*2098T>G, NM_001258346.3:c.*2144T>G, NM_001258346.2:c.*2144T>G, NM_001130727.3:c.*2098T>G, NM_001130727.2:c.*2098T>G, XM_017007759.3:c.*2098T>G, XM_017007759.1:c.*2098T>G, XM_011513784.2:c.*2144T>G, XM_011513804.2:c.*2144T>G, NM_001330745.2:c.*2098T>G, NM_001330745.1:c.*2098T>G, NM_001330746.2:c.*2098T>G, NM_001330746.1:c.*2098T>G, NM_001330747.2:c.*2098T>G, NM_001330747.1:c.*2098T>G, NM_001330748.2:c.*2098T>G, NM_001330748.1:c.*2098T>G, XM_047449617.1:c.*2098T>G, XM_047449619.1:c.*2144T>G, XM_047449621.1:c.*2098T>G, XM_047449620.1:c.*2098T>G, XM_047449624.1:c.*2144T>G, XM_047449626.1:c.*2098T>G, XM_047449618.1:c.*2098T>G, XM_047449628.1:c.*2098T>G, XM_047449622.1:c.*2098T>G, XM_047449625.1:c.*2098T>G, XM_047449627.1:c.*2098T>G, XM_047449623.1:c.*2098T>G

              7.

              rs1486467853 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->C [Show Flanks]
                Chromosome:
                4:20729422 (GRCh38)
                4:20731046 (GRCh37)
                Canonical SPDI:
                NC_000004.12:20729422:C:CC
                Gene:
                KCNIP4 (Varview), PACRGL (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CC=0.000447/2 (ALFA)
                C=0.000043/6 (GnomAD)
                C=0.000446/2 (Estonian)
                HGVS:
                NC_000004.12:g.20729423dup, NC_000004.11:g.20731046dup, NG_052969.1:g.1224329dup, NM_025221.6:c.*659dup, NM_025221.5:c.*659dup, NM_147182.4:c.*659dup, NM_147182.3:c.*659dup, NM_147181.4:c.*659dup, NM_147181.3:c.*659dup, NM_147183.3:c.*659dup, NM_001035003.2:c.*659dup, NM_001035003.1:c.*659dup, NM_001035004.2:c.*659dup, NM_001035004.1:c.*659dup, NM_001363504.2:c.*659dup, NM_001363504.1:c.*659dup, NM_145048.5:c.*2082dup, NM_145048.4:c.*2082dup, XM_011513786.4:c.*2082dup, XM_011513786.2:c.*2082dup, XM_011513805.4:c.*2082dup, XM_011513805.2:c.*2082dup, XM_011513885.4:c.*2514dup, XM_011513885.3:c.*2514dup, XM_011513885.2:c.*2514dup, NM_001258345.3:c.*2082dup, NM_001258345.2:c.*2082dup, XM_017007747.3:c.*2082dup, XM_017007747.1:c.*2082dup, XM_017007748.3:c.*2082dup, XM_017007748.1:c.*2082dup, NR_047661.3:n.2908dup, NR_047661.2:n.2953dup, NM_001317849.3:c.*2082dup, NM_001317849.2:c.*2082dup, NM_001258346.3:c.*2128dup, NM_001258346.2:c.*2128dup, NM_001130727.3:c.*2082dup, NM_001130727.2:c.*2082dup, XM_017007759.3:c.*2082dup, XM_017007759.1:c.*2082dup, XM_011513784.2:c.*2128dup, XM_011513804.2:c.*2128dup, NM_001330745.2:c.*2082dup, NM_001330745.1:c.*2082dup, NM_001330746.2:c.*2082dup, NM_001330746.1:c.*2082dup, NM_001330747.2:c.*2082dup, NM_001330747.1:c.*2082dup, NM_001330748.2:c.*2082dup, NM_001330748.1:c.*2082dup, XM_047449617.1:c.*2082dup, XM_047449619.1:c.*2128dup, XM_047449621.1:c.*2082dup, XM_047449620.1:c.*2082dup, XM_047449624.1:c.*2128dup, XM_047449626.1:c.*2082dup, XM_047449618.1:c.*2082dup, XM_047449628.1:c.*2082dup, XM_047449622.1:c.*2082dup, XM_047449625.1:c.*2082dup, XM_047449627.1:c.*2082dup, XM_047449623.1:c.*2082dup

                8.

                rs1485605378 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TG>- [Show Flanks]
                  Chromosome:
                  4:20728848 (GRCh38)
                  4:20730471 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:20728845:TGTG:TG
                  Gene:
                  KCNIP4 (Varview), PACRGL (Varview)
                  Functional Consequence:
                  intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  TGTG=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000004.12:g.20728846TG[1], NC_000004.11:g.20730469TG[1], NG_052969.1:g.1224903CA[1], NM_025221.6:c.*1233CA[1], NM_025221.5:c.*1233CA[1], NM_147182.4:c.*1233CA[1], NM_147182.3:c.*1233CA[1], NM_147181.4:c.*1233CA[1], NM_147181.3:c.*1233CA[1], NM_147183.3:c.*1233CA[1], NM_001035003.2:c.*1233CA[1], NM_001035003.1:c.*1233CA[1], NM_001035004.2:c.*1233CA[1], NM_001035004.1:c.*1233CA[1], NM_001363504.2:c.*1233CA[1], NM_001363504.1:c.*1233CA[1], NM_145048.5:c.*1505TG[1], NM_145048.4:c.*1505TG[1], XM_011513786.4:c.*1505TG[1], XM_011513786.2:c.*1505TG[1], XM_011513805.4:c.*1505TG[1], XM_011513805.2:c.*1505TG[1], XM_011513885.4:c.*3088CA[1], XM_011513885.3:c.*3088CA[1], XM_011513885.2:c.*3088CA[1], NM_001258345.3:c.*1505TG[1], NM_001258345.2:c.*1505TG[1], XM_017007747.3:c.*1505TG[1], XM_017007747.1:c.*1505TG[1], XM_017007748.3:c.*1505TG[1], XM_017007748.1:c.*1505TG[1], NR_047661.3:n.2331TG[1], NR_047661.2:n.2376TG[1], NM_001317849.3:c.*1505TG[1], NM_001317849.2:c.*1505TG[1], NM_001258346.3:c.*1551TG[1], NM_001258346.2:c.*1551TG[1], NM_001130727.3:c.*1505TG[1], NM_001130727.2:c.*1505TG[1], XM_017007759.3:c.*1505TG[1], XM_017007759.1:c.*1505TG[1], XM_011513784.2:c.*1551TG[1], XM_011513804.2:c.*1551TG[1], NM_001330745.2:c.*1505TG[1], NM_001330745.1:c.*1505TG[1], NM_001330746.2:c.*1505TG[1], NM_001330746.1:c.*1505TG[1], NM_001330747.2:c.*1505TG[1], NM_001330747.1:c.*1505TG[1], NM_001330748.2:c.*1505TG[1], NM_001330748.1:c.*1505TG[1], XM_047449617.1:c.*1505TG[1], XM_047449619.1:c.*1551TG[1], XM_047449621.1:c.*1505TG[1], XM_047449620.1:c.*1505TG[1], XM_047449624.1:c.*1551TG[1], XM_047449626.1:c.*1505TG[1], XM_047449618.1:c.*1505TG[1], XM_047449628.1:c.*1505TG[1], XM_047449622.1:c.*1505TG[1], XM_047449625.1:c.*1505TG[1], XM_047449627.1:c.*1505TG[1], XM_047449623.1:c.*1505TG[1]

                  9.

                  rs1485371893 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->TTATGAAAAGGATGCAAATTTATAACT [Show Flanks]
                    Chromosome:
                    4:20729889 (GRCh38)
                    4:20731513 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:20729889:TTATGAAAAGGATGCAAATTTATAACT:TTATGAAAAGGATGCAAATTTATAACTTTATGAAAAGGATGCAAATTTATAACT
                    Gene:
                    KCNIP4 (Varview), PACRGL (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
                    Validated:
                    by frequency
                    MAF:
                    TTATGAAAAGGATGCAAATTTATAACT=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000004.12:g.20729890_20729916dup, NC_000004.11:g.20731513_20731539dup, NG_052969.1:g.1223836_1223862dup, NM_025221.6:c.*166_*192dup, NM_025221.5:c.*166_*192dup, NM_147182.4:c.*166_*192dup, NM_147182.3:c.*166_*192dup, NM_147181.4:c.*166_*192dup, NM_147181.3:c.*166_*192dup, NM_147183.3:c.*166_*192dup, NM_001035003.2:c.*166_*192dup, NM_001035003.1:c.*166_*192dup, NM_001035004.2:c.*166_*192dup, NM_001035004.1:c.*166_*192dup, NM_001363504.2:c.*166_*192dup, NM_001363504.1:c.*166_*192dup, NM_145048.5:c.*2549_*2575dup, NM_145048.4:c.*2549_*2575dup, XM_011513786.4:c.*2549_*2575dup, XM_011513786.2:c.*2549_*2575dup, XM_011513805.4:c.*2549_*2575dup, XM_011513805.2:c.*2549_*2575dup, XM_011513885.4:c.*2021_*2047dup, XM_011513885.3:c.*2021_*2047dup, XM_011513885.2:c.*2021_*2047dup, NM_001258345.3:c.*2549_*2575dup, NM_001258345.2:c.*2549_*2575dup, XM_017007747.3:c.*2549_*2575dup, XM_017007747.1:c.*2549_*2575dup, XM_017007748.3:c.*2549_*2575dup, XM_017007748.1:c.*2549_*2575dup, NR_047661.3:n.3375_3401dup, NR_047661.2:n.3420_3446dup, NM_001317849.3:c.*2549_*2575dup, NM_001317849.2:c.*2549_*2575dup, NM_001258346.3:c.*2595_*2621dup, NM_001258346.2:c.*2595_*2621dup, NM_001130727.3:c.*2549_*2575dup, NM_001130727.2:c.*2549_*2575dup, XM_017007759.3:c.*2549_*2575dup, XM_017007759.1:c.*2549_*2575dup, XM_011513784.2:c.*2595_*2621dup, XM_011513804.2:c.*2595_*2621dup, NM_001330745.2:c.*2549_*2575dup, NM_001330745.1:c.*2549_*2575dup, NM_001330746.2:c.*2549_*2575dup, NM_001330746.1:c.*2549_*2575dup, NM_001330747.2:c.*2549_*2575dup, NM_001330747.1:c.*2549_*2575dup, NM_001330748.2:c.*2549_*2575dup, NM_001330748.1:c.*2549_*2575dup, XM_047449617.1:c.*2549_*2575dup, XM_047449619.1:c.*2595_*2621dup, XM_047449621.1:c.*2549_*2575dup, XM_047449620.1:c.*2549_*2575dup, XM_047449624.1:c.*2595_*2621dup, XM_047449626.1:c.*2549_*2575dup, XM_047449618.1:c.*2549_*2575dup, XM_047449628.1:c.*2549_*2575dup, XM_047449622.1:c.*2549_*2575dup, XM_047449625.1:c.*2549_*2575dup, XM_047449627.1:c.*2549_*2575dup, XM_047449623.1:c.*2549_*2575dup

                    10.

                    rs1483488103 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      4:20729085 (GRCh38)
                      4:20730708 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:20729084:A:G
                      Gene:
                      KCNIP4 (Varview), PACRGL (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000004.12:g.20729085A>G, NC_000004.11:g.20730708A>G, NG_052969.1:g.1224667T>C, NM_025221.6:c.*997T>C, NM_025221.5:c.*997T>C, NM_147182.4:c.*997T>C, NM_147182.3:c.*997T>C, NM_147181.4:c.*997T>C, NM_147181.3:c.*997T>C, NM_147183.3:c.*997T>C, NM_001035003.2:c.*997T>C, NM_001035003.1:c.*997T>C, NM_001035004.2:c.*997T>C, NM_001035004.1:c.*997T>C, NM_001363504.2:c.*997T>C, NM_001363504.1:c.*997T>C, NM_145048.5:c.*1744A>G, NM_145048.4:c.*1744A>G, XM_011513786.4:c.*1744A>G, XM_011513786.2:c.*1744A>G, XM_011513805.4:c.*1744A>G, XM_011513805.2:c.*1744A>G, XM_011513885.4:c.*2852T>C, XM_011513885.3:c.*2852T>C, XM_011513885.2:c.*2852T>C, NM_001258345.3:c.*1744A>G, NM_001258345.2:c.*1744A>G, XM_017007747.3:c.*1744A>G, XM_017007747.1:c.*1744A>G, XM_017007748.3:c.*1744A>G, XM_017007748.1:c.*1744A>G, NR_047661.3:n.2570A>G, NR_047661.2:n.2615A>G, NM_001317849.3:c.*1744A>G, NM_001317849.2:c.*1744A>G, NM_001258346.3:c.*1790A>G, NM_001258346.2:c.*1790A>G, NM_001130727.3:c.*1744A>G, NM_001130727.2:c.*1744A>G, XM_017007759.3:c.*1744A>G, XM_017007759.1:c.*1744A>G, XM_011513784.2:c.*1790A>G, XM_011513804.2:c.*1790A>G, NM_001330745.2:c.*1744A>G, NM_001330745.1:c.*1744A>G, NM_001330746.2:c.*1744A>G, NM_001330746.1:c.*1744A>G, NM_001330747.2:c.*1744A>G, NM_001330747.1:c.*1744A>G, NM_001330748.2:c.*1744A>G, NM_001330748.1:c.*1744A>G, XM_047449617.1:c.*1744A>G, XM_047449619.1:c.*1790A>G, XM_047449621.1:c.*1744A>G, XM_047449620.1:c.*1744A>G, XM_047449624.1:c.*1790A>G, XM_047449626.1:c.*1744A>G, XM_047449618.1:c.*1744A>G, XM_047449628.1:c.*1744A>G, XM_047449622.1:c.*1744A>G, XM_047449625.1:c.*1744A>G, XM_047449627.1:c.*1744A>G, XM_047449623.1:c.*1744A>G

                      11.

                      rs1482194952 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->A [Show Flanks]
                        Chromosome:
                        4:20730078 (GRCh38)
                        4:20731702 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:20730078:AA:AAA
                        Gene:
                        KCNIP4 (Varview), PACRGL (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000004.12:g.20730080dup, NC_000004.11:g.20731703dup, NG_052969.1:g.1223673dup, NM_025221.6:c.*3dup, NM_025221.5:c.*3dup, NM_147182.4:c.*3dup, NM_147182.3:c.*3dup, NM_147181.4:c.*3dup, NM_147181.3:c.*3dup, NM_147183.3:c.*3dup, NM_001035003.2:c.*3dup, NM_001035003.1:c.*3dup, NM_001035004.2:c.*3dup, NM_001035004.1:c.*3dup, NM_001363504.2:c.*3dup, NM_001363504.1:c.*3dup, NM_145048.5:c.*2739dup, NM_145048.4:c.*2739dup, XM_011513786.4:c.*2739dup, XM_011513786.2:c.*2739dup, XM_011513805.4:c.*2739dup, XM_011513805.2:c.*2739dup, XM_011513885.4:c.*1858dup, XM_011513885.3:c.*1858dup, XM_011513885.2:c.*1858dup, NM_001258345.3:c.*2739dup, NM_001258345.2:c.*2739dup, XM_017007747.3:c.*2739dup, XM_017007747.1:c.*2739dup, XM_017007748.3:c.*2739dup, XM_017007748.1:c.*2739dup, NR_047661.3:n.3565dup, NR_047661.2:n.3610dup, NM_001317849.3:c.*2739dup, NM_001317849.2:c.*2739dup, NM_001258346.3:c.*2785dup, NM_001258346.2:c.*2785dup, NM_001130727.3:c.*2739dup, NM_001130727.2:c.*2739dup, XM_017007759.3:c.*2739dup, XM_017007759.1:c.*2739dup, XM_011513784.2:c.*2785dup, XM_011513804.2:c.*2785dup, NM_001330745.2:c.*2739dup, NM_001330745.1:c.*2739dup, NM_001330746.2:c.*2739dup, NM_001330746.1:c.*2739dup, NM_001330747.2:c.*2739dup, NM_001330747.1:c.*2739dup, NM_001330748.2:c.*2739dup, NM_001330748.1:c.*2739dup, XM_047449617.1:c.*2739dup, XM_047449619.1:c.*2785dup, XM_047449621.1:c.*2739dup, XM_047449620.1:c.*2739dup, XM_047449624.1:c.*2785dup, XM_047449626.1:c.*2739dup, XM_047449618.1:c.*2739dup, XM_047449628.1:c.*2739dup, XM_047449622.1:c.*2739dup, XM_047449625.1:c.*2739dup, XM_047449627.1:c.*2739dup, XM_047449623.1:c.*2739dup

                        12.

                        rs1481664989 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G,T [Show Flanks]
                          Chromosome:
                          4:20729608 (GRCh38)
                          4:20731231 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:20729607:A:G,NC_000004.12:20729607:A:T
                          Gene:
                          KCNIP4 (Varview), PACRGL (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000004.12:g.20729608A>G, NC_000004.12:g.20729608A>T, NC_000004.11:g.20731231A>G, NC_000004.11:g.20731231A>T, NG_052969.1:g.1224144T>C, NG_052969.1:g.1224144T>A, NM_025221.6:c.*474T>C, NM_025221.6:c.*474T>A, NM_025221.5:c.*474T>C, NM_025221.5:c.*474T>A, NM_147182.4:c.*474T>C, NM_147182.4:c.*474T>A, NM_147182.3:c.*474T>C, NM_147182.3:c.*474T>A, NM_147181.4:c.*474T>C, NM_147181.4:c.*474T>A, NM_147181.3:c.*474T>C, NM_147181.3:c.*474T>A, NM_147183.3:c.*474T>C, NM_147183.3:c.*474T>A, NM_001035003.2:c.*474T>C, NM_001035003.2:c.*474T>A, NM_001035003.1:c.*474T>C, NM_001035003.1:c.*474T>A, NM_001035004.2:c.*474T>C, NM_001035004.2:c.*474T>A, NM_001035004.1:c.*474T>C, NM_001035004.1:c.*474T>A, NM_001363504.2:c.*474T>C, NM_001363504.2:c.*474T>A, NM_001363504.1:c.*474T>C, NM_001363504.1:c.*474T>A, NM_145048.5:c.*2267A>G, NM_145048.5:c.*2267A>T, NM_145048.4:c.*2267A>G, NM_145048.4:c.*2267A>T, XM_011513786.4:c.*2267A>G, XM_011513786.4:c.*2267A>T, XM_011513786.2:c.*2267A>G, XM_011513786.2:c.*2267A>T, XM_011513805.4:c.*2267A>G, XM_011513805.4:c.*2267A>T, XM_011513805.2:c.*2267A>G, XM_011513805.2:c.*2267A>T, XM_011513885.4:c.*2329T>C, XM_011513885.4:c.*2329T>A, XM_011513885.3:c.*2329T>C, XM_011513885.3:c.*2329T>A, XM_011513885.2:c.*2329T>C, XM_011513885.2:c.*2329T>A, NM_001258345.3:c.*2267A>G, NM_001258345.3:c.*2267A>T, NM_001258345.2:c.*2267A>G, NM_001258345.2:c.*2267A>T, XM_017007747.3:c.*2267A>G, XM_017007747.3:c.*2267A>T, XM_017007747.1:c.*2267A>G, XM_017007747.1:c.*2267A>T, XM_017007748.3:c.*2267A>G, XM_017007748.3:c.*2267A>T, XM_017007748.1:c.*2267A>G, XM_017007748.1:c.*2267A>T, NR_047661.3:n.3093A>G, NR_047661.3:n.3093A>T, NR_047661.2:n.3138A>G, NR_047661.2:n.3138A>T, NM_001317849.3:c.*2267A>G, NM_001317849.3:c.*2267A>T, NM_001317849.2:c.*2267A>G, NM_001317849.2:c.*2267A>T, NM_001258346.3:c.*2313A>G, NM_001258346.3:c.*2313A>T, NM_001258346.2:c.*2313A>G, NM_001258346.2:c.*2313A>T, NM_001130727.3:c.*2267A>G, NM_001130727.3:c.*2267A>T, NM_001130727.2:c.*2267A>G, NM_001130727.2:c.*2267A>T, XM_017007759.3:c.*2267A>G, XM_017007759.3:c.*2267A>T, XM_017007759.1:c.*2267A>G, XM_017007759.1:c.*2267A>T, XM_011513784.2:c.*2313A>G, XM_011513784.2:c.*2313A>T, XM_011513804.2:c.*2313A>G, XM_011513804.2:c.*2313A>T, NM_001330745.2:c.*2267A>G, NM_001330745.2:c.*2267A>T, NM_001330745.1:c.*2267A>G, NM_001330745.1:c.*2267A>T, NM_001330746.2:c.*2267A>G, NM_001330746.2:c.*2267A>T, NM_001330746.1:c.*2267A>G, NM_001330746.1:c.*2267A>T, NM_001330747.2:c.*2267A>G, NM_001330747.2:c.*2267A>T, NM_001330747.1:c.*2267A>G, NM_001330747.1:c.*2267A>T, NM_001330748.2:c.*2267A>G, NM_001330748.2:c.*2267A>T, NM_001330748.1:c.*2267A>G, NM_001330748.1:c.*2267A>T, XM_047449617.1:c.*2267A>G, XM_047449617.1:c.*2267A>T, XM_047449619.1:c.*2313A>G, XM_047449619.1:c.*2313A>T, XM_047449621.1:c.*2267A>G, XM_047449621.1:c.*2267A>T, XM_047449620.1:c.*2267A>G, XM_047449620.1:c.*2267A>T, XM_047449624.1:c.*2313A>G, XM_047449624.1:c.*2313A>T, XM_047449626.1:c.*2267A>G, XM_047449626.1:c.*2267A>T, XM_047449618.1:c.*2267A>G, XM_047449618.1:c.*2267A>T, XM_047449628.1:c.*2267A>G, XM_047449628.1:c.*2267A>T, XM_047449622.1:c.*2267A>G, XM_047449622.1:c.*2267A>T, XM_047449625.1:c.*2267A>G, XM_047449625.1:c.*2267A>T, XM_047449627.1:c.*2267A>G, XM_047449627.1:c.*2267A>T, XM_047449623.1:c.*2267A>G, XM_047449623.1:c.*2267A>T

                          13.

                          rs1481360484 [Homo sapiens]
                            Variant type:
                            SNV:
                            Alleles:
                            T>G
                            Chromosome:
                            no mapping
                            Canonical SPDI:

                            14.

                            rs1480369161 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->TCTAACAG [Show Flanks]
                              Chromosome:
                              4:20729600 (GRCh38)
                              4:20731224 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:20729600::TCTAACAG
                              Gene:
                              KCNIP4 (Varview), PACRGL (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
                              Validated:
                              by frequency
                              MAF:
                              TCTAACAG=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000004.12:g.20729600_20729601insTCTAACAG, NC_000004.11:g.20731223_20731224insTCTAACAG, NG_052969.1:g.1224151_1224152insCTGTTAGA, NM_025221.6:c.*481_*482insCTGTTAGA, NM_025221.5:c.*481_*482insCTGTTAGA, NM_147182.4:c.*481_*482insCTGTTAGA, NM_147182.3:c.*481_*482insCTGTTAGA, NM_147181.4:c.*481_*482insCTGTTAGA, NM_147181.3:c.*481_*482insCTGTTAGA, NM_147183.3:c.*481_*482insCTGTTAGA, NM_001035003.2:c.*481_*482insCTGTTAGA, NM_001035003.1:c.*481_*482insCTGTTAGA, NM_001035004.2:c.*481_*482insCTGTTAGA, NM_001035004.1:c.*481_*482insCTGTTAGA, NM_001363504.2:c.*481_*482insCTGTTAGA, NM_001363504.1:c.*481_*482insCTGTTAGA, NM_145048.5:c.*2259_*2260insTCTAACAG, NM_145048.4:c.*2259_*2260insTCTAACAG, XM_011513786.4:c.*2259_*2260insTCTAACAG, XM_011513786.2:c.*2259_*2260insTCTAACAG, XM_011513805.4:c.*2259_*2260insTCTAACAG, XM_011513805.2:c.*2259_*2260insTCTAACAG, XM_011513885.4:c.*2336_*2337insCTGTTAGA, XM_011513885.3:c.*2336_*2337insCTGTTAGA, XM_011513885.2:c.*2336_*2337insCTGTTAGA, NM_001258345.3:c.*2259_*2260insTCTAACAG, NM_001258345.2:c.*2259_*2260insTCTAACAG, XM_017007747.3:c.*2259_*2260insTCTAACAG, XM_017007747.1:c.*2259_*2260insTCTAACAG, XM_017007748.3:c.*2259_*2260insTCTAACAG, XM_017007748.1:c.*2259_*2260insTCTAACAG, NR_047661.3:n.3085_3086insTCTAACAG, NR_047661.2:n.3130_3131insTCTAACAG, NM_001317849.3:c.*2259_*2260insTCTAACAG, NM_001317849.2:c.*2259_*2260insTCTAACAG, NM_001258346.3:c.*2305_*2306insTCTAACAG, NM_001258346.2:c.*2305_*2306insTCTAACAG, NM_001130727.3:c.*2259_*2260insTCTAACAG, NM_001130727.2:c.*2259_*2260insTCTAACAG, XM_017007759.3:c.*2259_*2260insTCTAACAG, XM_017007759.1:c.*2259_*2260insTCTAACAG, XM_011513784.2:c.*2305_*2306insTCTAACAG, XM_011513804.2:c.*2305_*2306insTCTAACAG, NM_001330745.2:c.*2259_*2260insTCTAACAG, NM_001330745.1:c.*2259_*2260insTCTAACAG, NM_001330746.2:c.*2259_*2260insTCTAACAG, NM_001330746.1:c.*2259_*2260insTCTAACAG, NM_001330747.2:c.*2259_*2260insTCTAACAG, NM_001330747.1:c.*2259_*2260insTCTAACAG, NM_001330748.2:c.*2259_*2260insTCTAACAG, NM_001330748.1:c.*2259_*2260insTCTAACAG, XM_047449617.1:c.*2259_*2260insTCTAACAG, XM_047449619.1:c.*2305_*2306insTCTAACAG, XM_047449621.1:c.*2259_*2260insTCTAACAG, XM_047449620.1:c.*2259_*2260insTCTAACAG, XM_047449624.1:c.*2305_*2306insTCTAACAG, XM_047449626.1:c.*2259_*2260insTCTAACAG, XM_047449618.1:c.*2259_*2260insTCTAACAG, XM_047449628.1:c.*2259_*2260insTCTAACAG, XM_047449622.1:c.*2259_*2260insTCTAACAG, XM_047449625.1:c.*2259_*2260insTCTAACAG, XM_047449627.1:c.*2259_*2260insTCTAACAG, XM_047449623.1:c.*2259_*2260insTCTAACAG

                              15.

                              rs1479301002 [Homo sapiens]
                                Variant type:
                                INS
                                Alleles:
                                ->TC [Show Flanks]
                                Chromosome:
                                4:20729620 (GRCh38)
                                4:20731244 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:20729620::TC
                                Gene:
                                KCNIP4 (Varview), PACRGL (Varview)
                                Functional Consequence:
                                intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                TC=0.0005/3 (1000Genomes)
                                HGVS:
                                NC_000004.12:g.20729620_20729621insTC, NC_000004.11:g.20731243_20731244insTC, NG_052969.1:g.1224131_1224132insGA, NM_025221.6:c.*461_*462insGA, NM_025221.5:c.*461_*462insGA, NM_147182.4:c.*461_*462insGA, NM_147182.3:c.*461_*462insGA, NM_147181.4:c.*461_*462insGA, NM_147181.3:c.*461_*462insGA, NM_147183.3:c.*461_*462insGA, NM_001035003.2:c.*461_*462insGA, NM_001035003.1:c.*461_*462insGA, NM_001035004.2:c.*461_*462insGA, NM_001035004.1:c.*461_*462insGA, NM_001363504.2:c.*461_*462insGA, NM_001363504.1:c.*461_*462insGA, NM_145048.5:c.*2279_*2280insTC, NM_145048.4:c.*2279_*2280insTC, XM_011513786.4:c.*2279_*2280insTC, XM_011513786.2:c.*2279_*2280insTC, XM_011513805.4:c.*2279_*2280insTC, XM_011513805.2:c.*2279_*2280insTC, XM_011513885.4:c.*2316_*2317insGA, XM_011513885.3:c.*2316_*2317insGA, XM_011513885.2:c.*2316_*2317insGA, NM_001258345.3:c.*2279_*2280insTC, NM_001258345.2:c.*2279_*2280insTC, XM_017007747.3:c.*2279_*2280insTC, XM_017007747.1:c.*2279_*2280insTC, XM_017007748.3:c.*2279_*2280insTC, XM_017007748.1:c.*2279_*2280insTC, NR_047661.3:n.3105_3106insTC, NR_047661.2:n.3150_3151insTC, NM_001317849.3:c.*2279_*2280insTC, NM_001317849.2:c.*2279_*2280insTC, NM_001258346.3:c.*2325_*2326insTC, NM_001258346.2:c.*2325_*2326insTC, NM_001130727.3:c.*2279_*2280insTC, NM_001130727.2:c.*2279_*2280insTC, XM_017007759.3:c.*2279_*2280insTC, XM_017007759.1:c.*2279_*2280insTC, XM_011513784.2:c.*2325_*2326insTC, XM_011513804.2:c.*2325_*2326insTC, NM_001330745.2:c.*2279_*2280insTC, NM_001330745.1:c.*2279_*2280insTC, NM_001330746.2:c.*2279_*2280insTC, NM_001330746.1:c.*2279_*2280insTC, NM_001330747.2:c.*2279_*2280insTC, NM_001330747.1:c.*2279_*2280insTC, NM_001330748.2:c.*2279_*2280insTC, NM_001330748.1:c.*2279_*2280insTC, XM_047449617.1:c.*2279_*2280insTC, XM_047449619.1:c.*2325_*2326insTC, XM_047449621.1:c.*2279_*2280insTC, XM_047449620.1:c.*2279_*2280insTC, XM_047449624.1:c.*2325_*2326insTC, XM_047449626.1:c.*2279_*2280insTC, XM_047449618.1:c.*2279_*2280insTC, XM_047449628.1:c.*2279_*2280insTC, XM_047449622.1:c.*2279_*2280insTC, XM_047449625.1:c.*2279_*2280insTC, XM_047449627.1:c.*2279_*2280insTC, XM_047449623.1:c.*2279_*2280insTC

                                16.

                                rs1479100784 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  CTGATTTATTGTTGCAAAGACAG>- [Show Flanks]
                                  Chromosome:
                                  4:20728788 (GRCh38)
                                  4:20730411 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:20728787:CTGATTTATTGTTGCAAAGACAG:
                                  Gene:
                                  KCNIP4 (Varview), PACRGL (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0./0 (ALFA)
                                  -=0.000011/3 (TOPMED)
                                  -=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000004.12:g.20728788_20728810del, NC_000004.11:g.20730411_20730433del, NG_052969.1:g.1224942_1224964del, NM_025221.6:c.*1272_*1294del, NM_025221.5:c.*1272_*1294del, NM_147182.4:c.*1272_*1294del, NM_147182.3:c.*1272_*1294del, NM_147181.4:c.*1272_*1294del, NM_147181.3:c.*1272_*1294del, NM_147183.3:c.*1272_*1294del, NM_001035003.2:c.*1272_*1294del, NM_001035003.1:c.*1272_*1294del, NM_001035004.2:c.*1272_*1294del, NM_001035004.1:c.*1272_*1294del, NM_001363504.2:c.*1272_*1294del, NM_001363504.1:c.*1272_*1294del, NM_145048.5:c.*1447_*1469del, NM_145048.4:c.*1447_*1469del, XM_011513786.4:c.*1447_*1469del, XM_011513786.2:c.*1447_*1469del, XM_011513805.4:c.*1447_*1469del, XM_011513805.2:c.*1447_*1469del, XM_011513885.4:c.*3127_*3149del, XM_011513885.3:c.*3127_*3149del, XM_011513885.2:c.*3127_*3149del, NM_001258345.3:c.*1447_*1469del, NM_001258345.2:c.*1447_*1469del, XM_017007747.3:c.*1447_*1469del, XM_017007747.1:c.*1447_*1469del, XM_017007748.3:c.*1447_*1469del, XM_017007748.1:c.*1447_*1469del, NR_047661.3:n.2273_2295del, NR_047661.2:n.2318_2340del, NM_001317849.3:c.*1447_*1469del, NM_001317849.2:c.*1447_*1469del, NM_001258346.3:c.*1493_*1515del, NM_001258346.2:c.*1493_*1515del, NM_001130727.3:c.*1447_*1469del, NM_001130727.2:c.*1447_*1469del, XM_017007759.3:c.*1447_*1469del, XM_017007759.1:c.*1447_*1469del, XM_011513784.2:c.*1493_*1515del, XM_011513804.2:c.*1493_*1515del, NM_001330745.2:c.*1447_*1469del, NM_001330745.1:c.*1447_*1469del, NM_001330746.2:c.*1447_*1469del, NM_001330746.1:c.*1447_*1469del, NM_001330747.2:c.*1447_*1469del, NM_001330747.1:c.*1447_*1469del, NM_001330748.2:c.*1447_*1469del, NM_001330748.1:c.*1447_*1469del, XM_047449617.1:c.*1447_*1469del, XM_047449619.1:c.*1493_*1515del, XM_047449621.1:c.*1447_*1469del, XM_047449620.1:c.*1447_*1469del, XM_047449624.1:c.*1493_*1515del, XM_047449626.1:c.*1447_*1469del, XM_047449618.1:c.*1447_*1469del, XM_047449628.1:c.*1447_*1469del, XM_047449622.1:c.*1447_*1469del, XM_047449625.1:c.*1447_*1469del, XM_047449627.1:c.*1447_*1469del, XM_047449623.1:c.*1447_*1469del

                                  17.

                                  rs1479029414 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->CCACTTAATGATTGATACT [Show Flanks]
                                    Chromosome:
                                    4:20729304 (GRCh38)
                                    4:20730928 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:20729304:TCCACTTAATGATTGATACT:TCCACTTAATGATTGATACTCCACTTAATGATTGATACT
                                    Gene:
                                    KCNIP4 (Varview), PACRGL (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TCCACTTAATGATTGATACTCCACTTAATGATTGATACT=0./0 (ALFA)
                                    TCCACTTAATGATTGATAC=0.000004/1 (TOPMED)
                                    TCCACTTAATGATTGATAC=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000004.12:g.20729306_20729324dup, NC_000004.11:g.20730929_20730947dup, NG_052969.1:g.1224429_1224447dup, NM_025221.6:c.*759_*777dup, NM_025221.5:c.*759_*777dup, NM_147182.4:c.*759_*777dup, NM_147182.3:c.*759_*777dup, NM_147181.4:c.*759_*777dup, NM_147181.3:c.*759_*777dup, NM_147183.3:c.*759_*777dup, NM_001035003.2:c.*759_*777dup, NM_001035003.1:c.*759_*777dup, NM_001035004.2:c.*759_*777dup, NM_001035004.1:c.*759_*777dup, NM_001363504.2:c.*759_*777dup, NM_001363504.1:c.*759_*777dup, NM_145048.5:c.*1965_*1983dup, NM_145048.4:c.*1965_*1983dup, XM_011513786.4:c.*1965_*1983dup, XM_011513786.2:c.*1965_*1983dup, XM_011513805.4:c.*1965_*1983dup, XM_011513805.2:c.*1965_*1983dup, XM_011513885.4:c.*2614_*2632dup, XM_011513885.3:c.*2614_*2632dup, XM_011513885.2:c.*2614_*2632dup, NM_001258345.3:c.*1965_*1983dup, NM_001258345.2:c.*1965_*1983dup, XM_017007747.3:c.*1965_*1983dup, XM_017007747.1:c.*1965_*1983dup, XM_017007748.3:c.*1965_*1983dup, XM_017007748.1:c.*1965_*1983dup, NR_047661.3:n.2791_2809dup, NR_047661.2:n.2836_2854dup, NM_001317849.3:c.*1965_*1983dup, NM_001317849.2:c.*1965_*1983dup, NM_001258346.3:c.*2011_*2029dup, NM_001258346.2:c.*2011_*2029dup, NM_001130727.3:c.*1965_*1983dup, NM_001130727.2:c.*1965_*1983dup, XM_017007759.3:c.*1965_*1983dup, XM_017007759.1:c.*1965_*1983dup, XM_011513784.2:c.*2011_*2029dup, XM_011513804.2:c.*2011_*2029dup, NM_001330745.2:c.*1965_*1983dup, NM_001330745.1:c.*1965_*1983dup, NM_001330746.2:c.*1965_*1983dup, NM_001330746.1:c.*1965_*1983dup, NM_001330747.2:c.*1965_*1983dup, NM_001330747.1:c.*1965_*1983dup, NM_001330748.2:c.*1965_*1983dup, NM_001330748.1:c.*1965_*1983dup, XM_047449617.1:c.*1965_*1983dup, XM_047449619.1:c.*2011_*2029dup, XM_047449621.1:c.*1965_*1983dup, XM_047449620.1:c.*1965_*1983dup, XM_047449624.1:c.*2011_*2029dup, XM_047449626.1:c.*1965_*1983dup, XM_047449618.1:c.*1965_*1983dup, XM_047449628.1:c.*1965_*1983dup, XM_047449622.1:c.*1965_*1983dup, XM_047449625.1:c.*1965_*1983dup, XM_047449627.1:c.*1965_*1983dup, XM_047449623.1:c.*1965_*1983dup

                                    18.

                                    rs1478552885 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      4:20729131 (GRCh38)
                                      4:20730754 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:20729130:C:T
                                      Gene:
                                      KCNIP4 (Varview), PACRGL (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000004.12:g.20729131C>T, NC_000004.11:g.20730754C>T, NG_052969.1:g.1224621G>A, NM_025221.6:c.*951G>A, NM_025221.5:c.*951G>A, NM_147182.4:c.*951G>A, NM_147182.3:c.*951G>A, NM_147181.4:c.*951G>A, NM_147181.3:c.*951G>A, NM_147183.3:c.*951G>A, NM_001035003.2:c.*951G>A, NM_001035003.1:c.*951G>A, NM_001035004.2:c.*951G>A, NM_001035004.1:c.*951G>A, NM_001363504.2:c.*951G>A, NM_001363504.1:c.*951G>A, NM_145048.5:c.*1790C>T, NM_145048.4:c.*1790C>T, XM_011513786.4:c.*1790C>T, XM_011513786.2:c.*1790C>T, XM_011513805.4:c.*1790C>T, XM_011513805.2:c.*1790C>T, XM_011513885.4:c.*2806G>A, XM_011513885.3:c.*2806G>A, XM_011513885.2:c.*2806G>A, NM_001258345.3:c.*1790C>T, NM_001258345.2:c.*1790C>T, XM_017007747.3:c.*1790C>T, XM_017007747.1:c.*1790C>T, XM_017007748.3:c.*1790C>T, XM_017007748.1:c.*1790C>T, NR_047661.3:n.2616C>T, NR_047661.2:n.2661C>T, NM_001317849.3:c.*1790C>T, NM_001317849.2:c.*1790C>T, NM_001258346.3:c.*1836C>T, NM_001258346.2:c.*1836C>T, NM_001130727.3:c.*1790C>T, NM_001130727.2:c.*1790C>T, XM_017007759.3:c.*1790C>T, XM_017007759.1:c.*1790C>T, XM_011513784.2:c.*1836C>T, XM_011513804.2:c.*1836C>T, NM_001330745.2:c.*1790C>T, NM_001330745.1:c.*1790C>T, NM_001330746.2:c.*1790C>T, NM_001330746.1:c.*1790C>T, NM_001330747.2:c.*1790C>T, NM_001330747.1:c.*1790C>T, NM_001330748.2:c.*1790C>T, NM_001330748.1:c.*1790C>T, XM_047449617.1:c.*1790C>T, XM_047449619.1:c.*1836C>T, XM_047449621.1:c.*1790C>T, XM_047449620.1:c.*1790C>T, XM_047449624.1:c.*1836C>T, XM_047449626.1:c.*1790C>T, XM_047449618.1:c.*1790C>T, XM_047449628.1:c.*1790C>T, XM_047449622.1:c.*1790C>T, XM_047449625.1:c.*1790C>T, XM_047449627.1:c.*1790C>T, XM_047449623.1:c.*1790C>T

                                      19.

                                      rs1478227058 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        4:20729335 (GRCh38)
                                        4:20730958 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:20729334:A:T
                                        Gene:
                                        KCNIP4 (Varview), PACRGL (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000004.12:g.20729335A>T, NC_000004.11:g.20730958A>T, NG_052969.1:g.1224417T>A, NM_025221.6:c.*747T>A, NM_025221.5:c.*747T>A, NM_147182.4:c.*747T>A, NM_147182.3:c.*747T>A, NM_147181.4:c.*747T>A, NM_147181.3:c.*747T>A, NM_147183.3:c.*747T>A, NM_001035003.2:c.*747T>A, NM_001035003.1:c.*747T>A, NM_001035004.2:c.*747T>A, NM_001035004.1:c.*747T>A, NM_001363504.2:c.*747T>A, NM_001363504.1:c.*747T>A, NM_145048.5:c.*1994A>T, NM_145048.4:c.*1994A>T, XM_011513786.4:c.*1994A>T, XM_011513786.2:c.*1994A>T, XM_011513805.4:c.*1994A>T, XM_011513805.2:c.*1994A>T, XM_011513885.4:c.*2602T>A, XM_011513885.3:c.*2602T>A, XM_011513885.2:c.*2602T>A, NM_001258345.3:c.*1994A>T, NM_001258345.2:c.*1994A>T, XM_017007747.3:c.*1994A>T, XM_017007747.1:c.*1994A>T, XM_017007748.3:c.*1994A>T, XM_017007748.1:c.*1994A>T, NR_047661.3:n.2820A>T, NR_047661.2:n.2865A>T, NM_001317849.3:c.*1994A>T, NM_001317849.2:c.*1994A>T, NM_001258346.3:c.*2040A>T, NM_001258346.2:c.*2040A>T, NM_001130727.3:c.*1994A>T, NM_001130727.2:c.*1994A>T, XM_017007759.3:c.*1994A>T, XM_017007759.1:c.*1994A>T, XM_011513784.2:c.*2040A>T, XM_011513804.2:c.*2040A>T, NM_001330745.2:c.*1994A>T, NM_001330745.1:c.*1994A>T, NM_001330746.2:c.*1994A>T, NM_001330746.1:c.*1994A>T, NM_001330747.2:c.*1994A>T, NM_001330747.1:c.*1994A>T, NM_001330748.2:c.*1994A>T, NM_001330748.1:c.*1994A>T, XM_047449617.1:c.*1994A>T, XM_047449619.1:c.*2040A>T, XM_047449621.1:c.*1994A>T, XM_047449620.1:c.*1994A>T, XM_047449624.1:c.*2040A>T, XM_047449626.1:c.*1994A>T, XM_047449618.1:c.*1994A>T, XM_047449628.1:c.*1994A>T, XM_047449622.1:c.*1994A>T, XM_047449625.1:c.*1994A>T, XM_047449627.1:c.*1994A>T, XM_047449623.1:c.*1994A>T

                                        20.

                                        rs1478174877 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          4:20728837 (GRCh38)
                                          4:20730460 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:20728836:C:G
                                          Gene:
                                          KCNIP4 (Varview), PACRGL (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000004.12:g.20728837C>G, NC_000004.11:g.20730460C>G, NG_052969.1:g.1224915G>C, NM_025221.6:c.*1245G>C, NM_025221.5:c.*1245G>C, NM_147182.4:c.*1245G>C, NM_147182.3:c.*1245G>C, NM_147181.4:c.*1245G>C, NM_147181.3:c.*1245G>C, NM_147183.3:c.*1245G>C, NM_001035003.2:c.*1245G>C, NM_001035003.1:c.*1245G>C, NM_001035004.2:c.*1245G>C, NM_001035004.1:c.*1245G>C, NM_001363504.2:c.*1245G>C, NM_001363504.1:c.*1245G>C, NM_145048.5:c.*1496C>G, NM_145048.4:c.*1496C>G, XM_011513786.4:c.*1496C>G, XM_011513786.2:c.*1496C>G, XM_011513805.4:c.*1496C>G, XM_011513805.2:c.*1496C>G, XM_011513885.4:c.*3100G>C, XM_011513885.3:c.*3100G>C, XM_011513885.2:c.*3100G>C, NM_001258345.3:c.*1496C>G, NM_001258345.2:c.*1496C>G, XM_017007747.3:c.*1496C>G, XM_017007747.1:c.*1496C>G, XM_017007748.3:c.*1496C>G, XM_017007748.1:c.*1496C>G, NR_047661.3:n.2322C>G, NR_047661.2:n.2367C>G, NM_001317849.3:c.*1496C>G, NM_001317849.2:c.*1496C>G, NM_001258346.3:c.*1542C>G, NM_001258346.2:c.*1542C>G, NM_001130727.3:c.*1496C>G, NM_001130727.2:c.*1496C>G, XM_017007759.3:c.*1496C>G, XM_017007759.1:c.*1496C>G, XM_011513784.2:c.*1542C>G, XM_011513804.2:c.*1542C>G, NM_001330745.2:c.*1496C>G, NM_001330745.1:c.*1496C>G, NM_001330746.2:c.*1496C>G, NM_001330746.1:c.*1496C>G, NM_001330747.2:c.*1496C>G, NM_001330747.1:c.*1496C>G, NM_001330748.2:c.*1496C>G, NM_001330748.1:c.*1496C>G, XM_047449617.1:c.*1496C>G, XM_047449619.1:c.*1542C>G, XM_047449621.1:c.*1496C>G, XM_047449620.1:c.*1496C>G, XM_047449624.1:c.*1542C>G, XM_047449626.1:c.*1496C>G, XM_047449618.1:c.*1496C>G, XM_047449628.1:c.*1496C>G, XM_047449622.1:c.*1496C>G, XM_047449625.1:c.*1496C>G, XM_047449627.1:c.*1496C>G, XM_047449623.1:c.*1496C>G

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