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1.

rs1491585485 has merged into rs58434415 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TA>-,TATA [Show Flanks]
    Chromosome:
    6:143967381 (GRCh38)
    6:144288518 (GRCh37)
    Canonical SPDI:
    NC_000006.12:143967369:ATATATATATATA:ATATATATATA,NC_000006.12:143967369:ATATATATATATA:ATATATATATATATA
    Gene:
    PLAGL1 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ATATATATATATATA=0.000308/5 (ALFA)
    AT=0.00067/3 (Estonian)
    AT=0.008338/2207 (TOPMED)
    AT=0.022954/115 (1000Genomes)
    AT=0.087963/19 (Vietnamese)
    AT=0.098202/1646 (TOMMO)
    HGVS:

    2.

    rs1491551862 has merged into rs60021436 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAGGAAATTTTAAAAAAAAAACCCATTAAGACCAAAAAGAAATTTTTGAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      6:143968007 (GRCh38)
      6:144289144 (GRCh37)
      Canonical SPDI:
      NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143967997:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGGAAATTTTAAAAAAAAAACCCATTAAGACCAAAAAGAAATTTTTGAAAAAAAAAAAAAAAAAAAAA
      Gene:
      PLAGL1 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAA=0./0 (ALFA)
      -=0.4986/2497 (1000Genomes)
      HGVS:
      NC_000006.12:g.143968007_143968018del, NC_000006.12:g.143968008_143968018del, NC_000006.12:g.143968009_143968018del, NC_000006.12:g.143968010_143968018del, NC_000006.12:g.143968011_143968018del, NC_000006.12:g.143968012_143968018del, NC_000006.12:g.143968013_143968018del, NC_000006.12:g.143968014_143968018del, NC_000006.12:g.143968015_143968018del, NC_000006.12:g.143968016_143968018del, NC_000006.12:g.143968017_143968018del, NC_000006.12:g.143968018del, NC_000006.12:g.143968018dup, NC_000006.12:g.143968017_143968018dup, NC_000006.12:g.143968016_143968018dup, NC_000006.12:g.143968015_143968018dup, NC_000006.12:g.143968014_143968018dup, NC_000006.12:g.143968013_143968018dup, NC_000006.12:g.143968012_143968018dup, NC_000006.12:g.143968011_143968018dup, NC_000006.12:g.143968010_143968018dup, NC_000006.12:g.143968008_143968018dup, NC_000006.12:g.143968006_143968018dup, NC_000006.12:g.143968005_143968018dup, NC_000006.12:g.143968004_143968018dup, NC_000006.12:g.143968003_143968018dup, NC_000006.12:g.143968002_143968018dup, NC_000006.12:g.143968000_143968018dup, NC_000006.12:g.143967999_143968018dup, NC_000006.12:g.143968018_143968019insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.143968018_143968019insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.143968018_143968019insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.143968018_143968019insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.143968018_143968019insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.143967998_143968018A[26]GGAAATTTTAAAAAAAAAACCCATTAAGACCAAAAAGAAATTTTTGAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.144289144_144289155del, NC_000006.11:g.144289145_144289155del, NC_000006.11:g.144289146_144289155del, NC_000006.11:g.144289147_144289155del, NC_000006.11:g.144289148_144289155del, NC_000006.11:g.144289149_144289155del, NC_000006.11:g.144289150_144289155del, NC_000006.11:g.144289151_144289155del, NC_000006.11:g.144289152_144289155del, NC_000006.11:g.144289153_144289155del, NC_000006.11:g.144289154_144289155del, NC_000006.11:g.144289155del, NC_000006.11:g.144289155dup, NC_000006.11:g.144289154_144289155dup, NC_000006.11:g.144289153_144289155dup, NC_000006.11:g.144289152_144289155dup, NC_000006.11:g.144289151_144289155dup, NC_000006.11:g.144289150_144289155dup, NC_000006.11:g.144289149_144289155dup, NC_000006.11:g.144289148_144289155dup, NC_000006.11:g.144289147_144289155dup, NC_000006.11:g.144289145_144289155dup, NC_000006.11:g.144289143_144289155dup, NC_000006.11:g.144289142_144289155dup, NC_000006.11:g.144289141_144289155dup, NC_000006.11:g.144289140_144289155dup, NC_000006.11:g.144289139_144289155dup, NC_000006.11:g.144289137_144289155dup, NC_000006.11:g.144289136_144289155dup, NC_000006.11:g.144289155_144289156insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.144289155_144289156insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.144289155_144289156insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.144289155_144289156insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.144289155_144289156insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.144289135_144289155A[26]GGAAATTTTAAAAAAAAAACCCATTAAGACCAAAAAGAAATTTTTGAAAAAAAAAAAAAAAAAAAAA[1], NG_009384.2:g.101590_101601del, NG_009384.2:g.101591_101601del, NG_009384.2:g.101592_101601del, NG_009384.2:g.101593_101601del, NG_009384.2:g.101594_101601del, NG_009384.2:g.101595_101601del, NG_009384.2:g.101596_101601del, NG_009384.2:g.101597_101601del, NG_009384.2:g.101598_101601del, NG_009384.2:g.101599_101601del, NG_009384.2:g.101600_101601del, NG_009384.2:g.101601del, NG_009384.2:g.101601dup, NG_009384.2:g.101600_101601dup, NG_009384.2:g.101599_101601dup, NG_009384.2:g.101598_101601dup, NG_009384.2:g.101597_101601dup, NG_009384.2:g.101596_101601dup, NG_009384.2:g.101595_101601dup, NG_009384.2:g.101594_101601dup, NG_009384.2:g.101593_101601dup, NG_009384.2:g.101591_101601dup, NG_009384.2:g.101589_101601dup, NG_009384.2:g.101588_101601dup, NG_009384.2:g.101587_101601dup, NG_009384.2:g.101586_101601dup, NG_009384.2:g.101585_101601dup, NG_009384.2:g.101583_101601dup, NG_009384.2:g.101582_101601dup, NG_009384.2:g.101601_101602insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009384.2:g.101601_101602insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009384.2:g.101601_101602insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009384.2:g.101601_101602insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009384.2:g.101601_101602insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009384.2:g.101581_101601T[21]CAAAAATTTCTTTTTGGTCTTAATGGGTTTTTTTTTTAAAATTTCCTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

      3.

      rs1491533330 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TA>- [Show Flanks]
        Chromosome:
        6:144057796 (GRCh38)
        6:144378933 (GRCh37)
        Canonical SPDI:
        NC_000006.12:144057795:TA:
        Gene:
        PLAGL1 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        -=0.00021/6 (TOMMO)
        HGVS:

        4.

        rs1491532885 has merged into rs746624620 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CACACACACACACACACACACACACACA>-,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
          Chromosome:
          6:143993343 (GRCh38)
          6:144314480 (GRCh37)
          Canonical SPDI:
          NC_000006.12:143993331:ACACACACACACACACACACACACACACACACACACACA:ACACACACACA,NC_000006.12:143993331:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000006.12:143993331:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000006.12:143993331:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000006.12:143993331:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000006.12:143993331:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000006.12:143993331:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000006.12:143993331:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000006.12:143993331:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000006.12:143993331:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000006.12:143993331:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000006.12:143993331:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000006.12:143993331:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:143993331:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:143993331:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:143993331:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:143993331:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:143993331:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:143993331:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:143993331:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:143993331:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:143993331:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:143993331:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
          Gene:
          PLAGL1 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          ACACACACACACACACA=0./0 (ALFA)
          HGVS:
          NC_000006.12:g.143993333CA[5], NC_000006.12:g.143993333CA[8], NC_000006.12:g.143993333CA[9], NC_000006.12:g.143993333CA[10], NC_000006.12:g.143993333CA[11], NC_000006.12:g.143993333CA[12], NC_000006.12:g.143993333CA[13], NC_000006.12:g.143993333CA[14], NC_000006.12:g.143993333CA[15], NC_000006.12:g.143993333CA[16], NC_000006.12:g.143993333CA[17], NC_000006.12:g.143993333CA[18], NC_000006.12:g.143993333CA[20], NC_000006.12:g.143993333CA[21], NC_000006.12:g.143993333CA[22], NC_000006.12:g.143993333CA[23], NC_000006.12:g.143993333CA[24], NC_000006.12:g.143993333CA[25], NC_000006.12:g.143993333CA[26], NC_000006.12:g.143993333CA[27], NC_000006.12:g.143993333CA[28], NC_000006.12:g.143993333CA[29], NC_000006.12:g.143993333CA[30], NC_000006.11:g.144314470CA[5], NC_000006.11:g.144314470CA[8], NC_000006.11:g.144314470CA[9], NC_000006.11:g.144314470CA[10], NC_000006.11:g.144314470CA[11], NC_000006.11:g.144314470CA[12], NC_000006.11:g.144314470CA[13], NC_000006.11:g.144314470CA[14], NC_000006.11:g.144314470CA[15], NC_000006.11:g.144314470CA[16], NC_000006.11:g.144314470CA[17], NC_000006.11:g.144314470CA[18], NC_000006.11:g.144314470CA[20], NC_000006.11:g.144314470CA[21], NC_000006.11:g.144314470CA[22], NC_000006.11:g.144314470CA[23], NC_000006.11:g.144314470CA[24], NC_000006.11:g.144314470CA[25], NC_000006.11:g.144314470CA[26], NC_000006.11:g.144314470CA[27], NC_000006.11:g.144314470CA[28], NC_000006.11:g.144314470CA[29], NC_000006.11:g.144314470CA[30], NG_009384.2:g.76230GT[5], NG_009384.2:g.76230GT[8], NG_009384.2:g.76230GT[9], NG_009384.2:g.76230GT[10], NG_009384.2:g.76230GT[11], NG_009384.2:g.76230GT[12], NG_009384.2:g.76230GT[13], NG_009384.2:g.76230GT[14], NG_009384.2:g.76230GT[15], NG_009384.2:g.76230GT[16], NG_009384.2:g.76230GT[17], NG_009384.2:g.76230GT[18], NG_009384.2:g.76230GT[20], NG_009384.2:g.76230GT[21], NG_009384.2:g.76230GT[22], NG_009384.2:g.76230GT[23], NG_009384.2:g.76230GT[24], NG_009384.2:g.76230GT[25], NG_009384.2:g.76230GT[26], NG_009384.2:g.76230GT[27], NG_009384.2:g.76230GT[28], NG_009384.2:g.76230GT[29], NG_009384.2:g.76230GT[30]

          5.

          rs1491525645 has merged into rs139886289 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GAAAAA>-,GAAAAAGAAAAA [Show Flanks]
            Chromosome:
            6:144054761 (GRCh38)
            6:144375898 (GRCh37)
            Canonical SPDI:
            NC_000006.12:144054750:AAAAGAAAAAGAAAAA:AAAAGAAAAA,NC_000006.12:144054750:AAAAGAAAAAGAAAAA:AAAAGAAAAAGAAAAAGAAAAA
            Gene:
            PLAGL1 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAGAAAAAGAAAAAGAAAAA=0.02133/279 (ALFA)
            AAAAGA=0.025/1 (GENOME_DK)
            -=0.03941/169 (1000Genomes)
            AAAAGA=0.06303/282 (Estonian)
            AAAAGA=0.06313/63 (GoNL)
            AAAAGA=0.10167/61 (NorthernSweden)
            -=0.10732/22 (Vietnamese)
            HGVS:

            6.

            rs1491481799 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CT>- [Show Flanks]
              Chromosome:
              6:143996613 (GRCh38)
              6:144317750 (GRCh37)
              Canonical SPDI:
              NC_000006.12:143996612:CT:
              Gene:
              PLAGL1 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              -=0.000008/1 (GnomAD)
              HGVS:

              7.

              rs1491470895 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CA>- [Show Flanks]
                Chromosome:
                6:143967997 (GRCh38)
                6:144289134 (GRCh37)
                Canonical SPDI:
                NC_000006.12:143967996:CA:
                Gene:
                PLAGL1 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0.00354/42 (ALFA)
                -=0.00174/49 (TOMMO)
                HGVS:

                8.

                rs1491455367 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  GA>- [Show Flanks]
                  Chromosome:
                  6:144027243 (GRCh38)
                  6:144348380 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:144027241:AGA:A
                  Gene:
                  PLAGL1 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.00523/62 (ALFA)
                  -=0.00186/158 (GnomAD)
                  HGVS:

                  9.

                  rs1491450359 has merged into rs71024882 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                    Chromosome:
                    6:143980402 (GRCh38)
                    6:144301539 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:143980388:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:143980388:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:143980388:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:143980388:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:143980388:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:143980388:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:143980388:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:143980388:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143980388:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                    Gene:
                    PLAGL1 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTTTTTTT=0./0 (ALFA)
                    -=0.0752/290 (ALSPAC)
                    T=0.4461/2234 (1000Genomes)
                    HGVS:
                    NC_000006.12:g.143980402_143980405del, NC_000006.12:g.143980403_143980405del, NC_000006.12:g.143980404_143980405del, NC_000006.12:g.143980405del, NC_000006.12:g.143980405dup, NC_000006.12:g.143980404_143980405dup, NC_000006.12:g.143980403_143980405dup, NC_000006.12:g.143980405_143980406insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.143980405_143980406insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144301539_144301542del, NC_000006.11:g.144301540_144301542del, NC_000006.11:g.144301541_144301542del, NC_000006.11:g.144301542del, NC_000006.11:g.144301542dup, NC_000006.11:g.144301541_144301542dup, NC_000006.11:g.144301540_144301542dup, NC_000006.11:g.144301542_144301543insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144301542_144301543insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009384.2:g.89207_89210del, NG_009384.2:g.89208_89210del, NG_009384.2:g.89209_89210del, NG_009384.2:g.89210del, NG_009384.2:g.89210dup, NG_009384.2:g.89209_89210dup, NG_009384.2:g.89208_89210dup, NG_009384.2:g.89210_89211insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009384.2:g.89210_89211insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

                    10.

                    rs1491425292 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->A [Show Flanks]
                      Chromosome:
                      6:144057796 (GRCh38)
                      6:144378934 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:144057796:A:AA
                      Gene:
                      PLAGL1 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      AA=0./0 (ALFA)
                      A=0.000024/3 (GnomAD)
                      HGVS:

                      11.

                      rs1491423856 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->CT [Show Flanks]
                        Chromosome:
                        6:143977471 (GRCh38)
                        6:144298609 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:143977471:T:TCT
                        Gene:
                        PLAGL1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TCT=0./0 (ALFA)
                        HGVS:

                        12.

                        rs1491418772 [Homo sapiens]
                          Variant type:
                          SNV:
                          Alleles:
                          ->GGAA
                          Chromosome:
                          no mapping
                          Canonical SPDI:

                          13.

                          rs1491413352 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            CA>- [Show Flanks]
                            Chromosome:
                            6:144062470 (GRCh38)
                            6:144383607 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:144062469:CA:
                            Gene:
                            PLAGL1 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0./0 (ALFA)
                            HGVS:

                            14.

                            rs1491412498 [Homo sapiens]
                              Variant type:
                              SNV:
                              Alleles:
                              ->TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTT
                              Chromosome:
                              no mapping
                              Canonical SPDI:

                              15.

                              rs1491408330 has merged into rs55975019 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                CC>-,C,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCC [Show Flanks]
                                Chromosome:
                                6:143977092 (GRCh38)
                                6:144298229 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:143977083:CCCCCCCCCC:CCCCCCCC,NC_000006.12:143977083:CCCCCCCCCC:CCCCCCCCC,NC_000006.12:143977083:CCCCCCCCCC:CCCCCCCCCCC,NC_000006.12:143977083:CCCCCCCCCC:CCCCCCCCCCCC,NC_000006.12:143977083:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000006.12:143977083:CCCCCCCCCC:CCCCCCCCCCCCCC,NC_000006.12:143977083:CCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000006.12:143977083:CCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000006.12:143977083:CCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000006.12:143977083:CCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000006.12:143977083:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000006.12:143977083:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000006.12:143977083:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000006.12:143977083:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCC,NC_000006.12:143977083:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000006.12:143977083:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
                                Gene:
                                PLAGL1 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CCCCCCCCCCCCC=0./0 (ALFA)
                                -=0.097/486 (1000Genomes)
                                C=0.3/12 (GENOME_DK)
                                C=0.3666/1599 (Estonian)
                                HGVS:
                                NC_000006.12:g.143977092_143977093del, NC_000006.12:g.143977093del, NC_000006.12:g.143977093dup, NC_000006.12:g.143977092_143977093dup, NC_000006.12:g.143977091_143977093dup, NC_000006.12:g.143977090_143977093dup, NC_000006.12:g.143977089_143977093dup, NC_000006.12:g.143977088_143977093dup, NC_000006.12:g.143977087_143977093dup, NC_000006.12:g.143977086_143977093dup, NC_000006.12:g.143977085_143977093dup, NC_000006.12:g.143977084_143977093dup, NC_000006.12:g.143977093_143977094insCCCCCCCCCCC, NC_000006.12:g.143977093_143977094insCCCCCCCCCCCCCC, NC_000006.12:g.143977093_143977094insCCCCCCCCCCCCCCCCCCCC, NC_000006.12:g.143977093_143977094insCCCCCCCCCCCCCCCCCCCCCCC, NC_000006.11:g.144298229_144298230del, NC_000006.11:g.144298230del, NC_000006.11:g.144298230dup, NC_000006.11:g.144298229_144298230dup, NC_000006.11:g.144298228_144298230dup, NC_000006.11:g.144298227_144298230dup, NC_000006.11:g.144298226_144298230dup, NC_000006.11:g.144298225_144298230dup, NC_000006.11:g.144298224_144298230dup, NC_000006.11:g.144298223_144298230dup, NC_000006.11:g.144298222_144298230dup, NC_000006.11:g.144298221_144298230dup, NC_000006.11:g.144298230_144298231insCCCCCCCCCCC, NC_000006.11:g.144298230_144298231insCCCCCCCCCCCCCC, NC_000006.11:g.144298230_144298231insCCCCCCCCCCCCCCCCCCCC, NC_000006.11:g.144298230_144298231insCCCCCCCCCCCCCCCCCCCCCCC, NG_009384.2:g.92514_92515del, NG_009384.2:g.92515del, NG_009384.2:g.92515dup, NG_009384.2:g.92514_92515dup, NG_009384.2:g.92513_92515dup, NG_009384.2:g.92512_92515dup, NG_009384.2:g.92511_92515dup, NG_009384.2:g.92510_92515dup, NG_009384.2:g.92509_92515dup, NG_009384.2:g.92508_92515dup, NG_009384.2:g.92507_92515dup, NG_009384.2:g.92506_92515dup, NG_009384.2:g.92515_92516insGGGGGGGGGGG, NG_009384.2:g.92515_92516insGGGGGGGGGGGGGG, NG_009384.2:g.92515_92516insGGGGGGGGGGGGGGGGGGGG, NG_009384.2:g.92515_92516insGGGGGGGGGGGGGGGGGGGGGGG

                                16.

                                rs1491403155 has merged into rs34750629 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTCCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                  Chromosome:
                                  6:143977478 (GRCh38)
                                  6:144298615 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTCTCCTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                  Gene:
                                  PLAGL1 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTTTTTT=0./0 (ALFA)
                                  HGVS:
                                  NC_000006.12:g.143977478_143977491del, NC_000006.12:g.143977479_143977491del, NC_000006.12:g.143977480_143977491del, NC_000006.12:g.143977481_143977491del, NC_000006.12:g.143977482_143977491del, NC_000006.12:g.143977486_143977491del, NC_000006.12:g.143977487_143977491del, NC_000006.12:g.143977488_143977491del, NC_000006.12:g.143977489_143977491del, NC_000006.12:g.143977490_143977491del, NC_000006.12:g.143977491del, NC_000006.12:g.143977471_143977491T[21]CTTTTTT[2]T[16], NC_000006.12:g.143977491dup, NC_000006.12:g.143977490_143977491dup, NC_000006.12:g.143977489_143977491dup, NC_000006.12:g.143977471_143977491T[24]CTCCTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000006.12:g.143977488_143977491dup, NC_000006.12:g.143977487_143977491dup, NC_000006.12:g.143977471_143977491T[26]CTTTTT[2]T[25], NC_000006.12:g.143977486_143977491dup, NC_000006.12:g.143977485_143977491dup, NC_000006.12:g.143977484_143977491dup, NC_000006.12:g.143977483_143977491dup, NC_000006.12:g.143977482_143977491dup, NC_000006.12:g.143977481_143977491dup, NC_000006.12:g.143977480_143977491dup, NC_000006.12:g.143977479_143977491dup, NC_000006.12:g.143977478_143977491dup, NC_000006.12:g.143977477_143977491dup, NC_000006.12:g.143977476_143977491dup, NC_000006.12:g.143977475_143977491dup, NC_000006.12:g.143977474_143977491dup, NC_000006.12:g.143977473_143977491dup, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298615_144298628del, NC_000006.11:g.144298616_144298628del, NC_000006.11:g.144298617_144298628del, NC_000006.11:g.144298618_144298628del, NC_000006.11:g.144298619_144298628del, NC_000006.11:g.144298623_144298628del, NC_000006.11:g.144298624_144298628del, NC_000006.11:g.144298625_144298628del, NC_000006.11:g.144298626_144298628del, NC_000006.11:g.144298627_144298628del, NC_000006.11:g.144298628del, NC_000006.11:g.144298608_144298628T[21]CTTTTTT[2]T[16], NC_000006.11:g.144298628dup, NC_000006.11:g.144298627_144298628dup, NC_000006.11:g.144298626_144298628dup, NC_000006.11:g.144298608_144298628T[24]CTCCTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000006.11:g.144298625_144298628dup, NC_000006.11:g.144298624_144298628dup, NC_000006.11:g.144298608_144298628T[26]CTTTTT[2]T[25], NC_000006.11:g.144298623_144298628dup, NC_000006.11:g.144298622_144298628dup, NC_000006.11:g.144298621_144298628dup, NC_000006.11:g.144298620_144298628dup, NC_000006.11:g.144298619_144298628dup, NC_000006.11:g.144298618_144298628dup, NC_000006.11:g.144298617_144298628dup, NC_000006.11:g.144298616_144298628dup, NC_000006.11:g.144298615_144298628dup, NC_000006.11:g.144298614_144298628dup, NC_000006.11:g.144298613_144298628dup, NC_000006.11:g.144298612_144298628dup, NC_000006.11:g.144298611_144298628dup, NC_000006.11:g.144298610_144298628dup, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009384.2:g.92115_92128del, NG_009384.2:g.92116_92128del, NG_009384.2:g.92117_92128del, NG_009384.2:g.92118_92128del, NG_009384.2:g.92119_92128del, NG_009384.2:g.92123_92128del, NG_009384.2:g.92124_92128del, NG_009384.2:g.92125_92128del, NG_009384.2:g.92126_92128del, NG_009384.2:g.92127_92128del, NG_009384.2:g.92128del, NG_009384.2:g.92108_92128A[22]GAAAAAA[2]A[15], NG_009384.2:g.92128dup, NG_009384.2:g.92127_92128dup, NG_009384.2:g.92126_92128dup, NG_009384.2:g.92108_92128A[23]GGAGAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_009384.2:g.92125_92128dup, NG_009384.2:g.92124_92128dup, NG_009384.2:g.92108_92128A[30]GAAAAA[2]A[21], NG_009384.2:g.92123_92128dup, NG_009384.2:g.92122_92128dup, NG_009384.2:g.92121_92128dup, NG_009384.2:g.92120_92128dup, NG_009384.2:g.92119_92128dup, NG_009384.2:g.92118_92128dup, NG_009384.2:g.92117_92128dup, NG_009384.2:g.92116_92128dup, NG_009384.2:g.92115_92128dup, NG_009384.2:g.92114_92128dup, NG_009384.2:g.92113_92128dup, NG_009384.2:g.92112_92128dup, NG_009384.2:g.92111_92128dup, NG_009384.2:g.92110_92128dup, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAA, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

                                  17.

                                  rs1491316144 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    AT>- [Show Flanks]
                                    Chromosome:
                                    6:144057776 (GRCh38)
                                    6:144378913 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:144057775:AT:
                                    Gene:
                                    PLAGL1 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1491296075 has merged into rs34750629 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTCCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                      Chromosome:
                                      6:143977478 (GRCh38)
                                      6:144298615 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTCTCCTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:143977470:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                      Gene:
                                      PLAGL1 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TTTTTTTT=0./0 (ALFA)
                                      HGVS:
                                      NC_000006.12:g.143977478_143977491del, NC_000006.12:g.143977479_143977491del, NC_000006.12:g.143977480_143977491del, NC_000006.12:g.143977481_143977491del, NC_000006.12:g.143977482_143977491del, NC_000006.12:g.143977486_143977491del, NC_000006.12:g.143977487_143977491del, NC_000006.12:g.143977488_143977491del, NC_000006.12:g.143977489_143977491del, NC_000006.12:g.143977490_143977491del, NC_000006.12:g.143977491del, NC_000006.12:g.143977471_143977491T[21]CTTTTTT[2]T[16], NC_000006.12:g.143977491dup, NC_000006.12:g.143977490_143977491dup, NC_000006.12:g.143977489_143977491dup, NC_000006.12:g.143977471_143977491T[24]CTCCTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000006.12:g.143977488_143977491dup, NC_000006.12:g.143977487_143977491dup, NC_000006.12:g.143977471_143977491T[26]CTTTTT[2]T[25], NC_000006.12:g.143977486_143977491dup, NC_000006.12:g.143977485_143977491dup, NC_000006.12:g.143977484_143977491dup, NC_000006.12:g.143977483_143977491dup, NC_000006.12:g.143977482_143977491dup, NC_000006.12:g.143977481_143977491dup, NC_000006.12:g.143977480_143977491dup, NC_000006.12:g.143977479_143977491dup, NC_000006.12:g.143977478_143977491dup, NC_000006.12:g.143977477_143977491dup, NC_000006.12:g.143977476_143977491dup, NC_000006.12:g.143977475_143977491dup, NC_000006.12:g.143977474_143977491dup, NC_000006.12:g.143977473_143977491dup, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.143977491_143977492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298615_144298628del, NC_000006.11:g.144298616_144298628del, NC_000006.11:g.144298617_144298628del, NC_000006.11:g.144298618_144298628del, NC_000006.11:g.144298619_144298628del, NC_000006.11:g.144298623_144298628del, NC_000006.11:g.144298624_144298628del, NC_000006.11:g.144298625_144298628del, NC_000006.11:g.144298626_144298628del, NC_000006.11:g.144298627_144298628del, NC_000006.11:g.144298628del, NC_000006.11:g.144298608_144298628T[21]CTTTTTT[2]T[16], NC_000006.11:g.144298628dup, NC_000006.11:g.144298627_144298628dup, NC_000006.11:g.144298626_144298628dup, NC_000006.11:g.144298608_144298628T[24]CTCCTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000006.11:g.144298625_144298628dup, NC_000006.11:g.144298624_144298628dup, NC_000006.11:g.144298608_144298628T[26]CTTTTT[2]T[25], NC_000006.11:g.144298623_144298628dup, NC_000006.11:g.144298622_144298628dup, NC_000006.11:g.144298621_144298628dup, NC_000006.11:g.144298620_144298628dup, NC_000006.11:g.144298619_144298628dup, NC_000006.11:g.144298618_144298628dup, NC_000006.11:g.144298617_144298628dup, NC_000006.11:g.144298616_144298628dup, NC_000006.11:g.144298615_144298628dup, NC_000006.11:g.144298614_144298628dup, NC_000006.11:g.144298613_144298628dup, NC_000006.11:g.144298612_144298628dup, NC_000006.11:g.144298611_144298628dup, NC_000006.11:g.144298610_144298628dup, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.144298628_144298629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009384.2:g.92115_92128del, NG_009384.2:g.92116_92128del, NG_009384.2:g.92117_92128del, NG_009384.2:g.92118_92128del, NG_009384.2:g.92119_92128del, NG_009384.2:g.92123_92128del, NG_009384.2:g.92124_92128del, NG_009384.2:g.92125_92128del, NG_009384.2:g.92126_92128del, NG_009384.2:g.92127_92128del, NG_009384.2:g.92128del, NG_009384.2:g.92108_92128A[22]GAAAAAA[2]A[15], NG_009384.2:g.92128dup, NG_009384.2:g.92127_92128dup, NG_009384.2:g.92126_92128dup, NG_009384.2:g.92108_92128A[23]GGAGAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_009384.2:g.92125_92128dup, NG_009384.2:g.92124_92128dup, NG_009384.2:g.92108_92128A[30]GAAAAA[2]A[21], NG_009384.2:g.92123_92128dup, NG_009384.2:g.92122_92128dup, NG_009384.2:g.92121_92128dup, NG_009384.2:g.92120_92128dup, NG_009384.2:g.92119_92128dup, NG_009384.2:g.92118_92128dup, NG_009384.2:g.92117_92128dup, NG_009384.2:g.92116_92128dup, NG_009384.2:g.92115_92128dup, NG_009384.2:g.92114_92128dup, NG_009384.2:g.92113_92128dup, NG_009384.2:g.92112_92128dup, NG_009384.2:g.92111_92128dup, NG_009384.2:g.92110_92128dup, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAA, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009384.2:g.92128_92129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

                                      19.

                                      rs1491285844 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        AT>- [Show Flanks]
                                        Chromosome:
                                        6:143985981 (GRCh38)
                                        6:144307118 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:143985980:AT:
                                        Gene:
                                        PLAGL1 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0.00034/4 (ALFA)
                                        -=0.00008/4 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1491283114 [Homo sapiens]
                                          Variant type:
                                          SNV:
                                          Alleles:
                                          ->G
                                          Chromosome:
                                          no mapping
                                          Canonical SPDI:

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