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Items: 1 to 20 of 75070

1.

rs1491578884 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->TG [Show Flanks]
    Chromosome:
    6:69955522 (GRCh38)
    6:70665415 (GRCh37)
    Canonical SPDI:
    NC_000006.12:69955522::TG
    Gene:
    COL19A1 (Varview)
    Functional Consequence:
    intron_variant
    HGVS:

    2.

    rs1491548395 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->G [Show Flanks]
      Chromosome:
      6:70115824 (GRCh38)
      6:70825717 (GRCh37)
      Canonical SPDI:
      NC_000006.12:70115824:G:GG
      Gene:
      COL19A1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      GG=0./0 (ALFA)
      G=0.00027/24 (GnomAD)
      HGVS:

      3.

      rs1491539417 has merged into rs35629398 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CT>-,CTCT,CTCTCT [Show Flanks]
        Chromosome:
        6:70192493 (GRCh38)
        6:70902197 (GRCh37)
        Canonical SPDI:
        NC_000006.12:70192481:TCTCTCTCTCTCT:TCTCTCTCTCT,NC_000006.12:70192481:TCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000006.12:70192481:TCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT
        Gene:
        COL19A1 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TCTCTCTCTCTCTCTCT=0./0 (ALFA)
        TC=0.3/12 (GENOME_DK)
        TC=0.3326/5574 (TOMMO)
        TC=0.33333/200 (NorthernSweden)
        TC=0.38277/382 (GoNL)
        HGVS:

        4.

        rs1491530674 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          TT>- [Show Flanks]
          Chromosome:
          6:69921469 (GRCh38)
          6:70631361 (GRCh37)
          Canonical SPDI:
          NC_000006.12:69921468:TT:
          Gene:
          COL19A1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          -=0.000029/3 (GnomAD)
          HGVS:

          5.

          rs1491528857 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            6:69920993 (GRCh38)
            6:70630885 (GRCh37)
            Canonical SPDI:
            NC_000006.12:69920992:CA:
            Gene:
            COL19A1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            HGVS:

            6.

            rs1491513886 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              6:69921411 (GRCh38)
              6:70631303 (GRCh37)
              Canonical SPDI:
              NC_000006.12:69921410:CA:
              Gene:
              COL19A1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0.00118/14 (ALFA)
              HGVS:

              7.

              rs1491510605 has merged into rs150843469 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GT>-,GTGT [Show Flanks]
                Chromosome:
                6:70203474 (GRCh38)
                6:70913178 (GRCh37)
                Canonical SPDI:
                NC_000006.12:70203462:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000006.12:70203462:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT
                Gene:
                COL19A1 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TGTGTGTGTGTGTGT=0./0 (ALFA)
                TG=0.000007/1 (GnomAD)
                HGVS:

                8.

                rs1491495811 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->TAT [Show Flanks]
                  Chromosome:
                  6:70083599 (GRCh38)
                  6:70793492 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:70083599:TTAT:TTATTAT
                  Gene:
                  COL19A1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTATTAT=0./0 (ALFA)
                  TTA=0.000004/1 (TOPMED)
                  TTA=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1491495041 has merged into rs5877239 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAAAAAAAAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                    Chromosome:
                    6:70099065 (GRCh38)
                    6:70808957 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:70099056:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000006.12:70099056:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:70099056:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:70099056:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:70099056:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:70099056:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:70099056:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:70099056:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:70099056:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:70099056:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:70099056:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:70099056:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:70099056:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:70099056:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:70099056:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:70099056:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:70099056:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:70099056:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:70099056:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:70099056:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                    Gene:
                    COL19A1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAA=0./0 (ALFA)
                    HGVS:
                    NC_000006.12:g.70099065_70099083del, NC_000006.12:g.70099070_70099083del, NC_000006.12:g.70099071_70099083del, NC_000006.12:g.70099072_70099083del, NC_000006.12:g.70099073_70099083del, NC_000006.12:g.70099075_70099083del, NC_000006.12:g.70099076_70099083del, NC_000006.12:g.70099077_70099083del, NC_000006.12:g.70099078_70099083del, NC_000006.12:g.70099079_70099083del, NC_000006.12:g.70099080_70099083del, NC_000006.12:g.70099081_70099083del, NC_000006.12:g.70099082_70099083del, NC_000006.12:g.70099083del, NC_000006.12:g.70099083dup, NC_000006.12:g.70099082_70099083dup, NC_000006.12:g.70099081_70099083dup, NC_000006.12:g.70099080_70099083dup, NC_000006.12:g.70099079_70099083dup, NC_000006.12:g.70099078_70099083dup, NC_000006.11:g.70808957_70808975del, NC_000006.11:g.70808962_70808975del, NC_000006.11:g.70808963_70808975del, NC_000006.11:g.70808964_70808975del, NC_000006.11:g.70808965_70808975del, NC_000006.11:g.70808967_70808975del, NC_000006.11:g.70808968_70808975del, NC_000006.11:g.70808969_70808975del, NC_000006.11:g.70808970_70808975del, NC_000006.11:g.70808971_70808975del, NC_000006.11:g.70808972_70808975del, NC_000006.11:g.70808973_70808975del, NC_000006.11:g.70808974_70808975del, NC_000006.11:g.70808975del, NC_000006.11:g.70808975dup, NC_000006.11:g.70808974_70808975dup, NC_000006.11:g.70808973_70808975dup, NC_000006.11:g.70808972_70808975dup, NC_000006.11:g.70808971_70808975dup, NC_000006.11:g.70808970_70808975dup

                    10.

                    rs1491478655 has merged into rs57814985 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTGGTGTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTGGTTTTTTGTTTTTTTTTTTTTTTTTTT,TTTTTTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTT,TTTTTTTTTGTGTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTGTTGTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTGGTGTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                      Chromosome:
                      6:70115838 (GRCh38)
                      6:70825730 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGGTGTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTTTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTGTGTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTGTTGTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGGTGTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:70115825:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                      Gene:
                      COL19A1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTTTTTTTT=0./0 (ALFA)
                      HGVS:
                      NC_000006.12:g.70115838_70115842del, NC_000006.12:g.70115839_70115842del, NC_000006.12:g.70115840_70115842del, NC_000006.12:g.70115841_70115842del, NC_000006.12:g.70115842del, NC_000006.12:g.70115842dup, NC_000006.12:g.70115841_70115842dup, NC_000006.12:g.70115840_70115842dup, NC_000006.12:g.70115826_70115842T[20]GGTGTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000006.12:g.70115826_70115842T[20]GGTTTTTTGTTTTTTTTTTTTTTTTTTT[1], NC_000006.12:g.70115826_70115842T[20]GGTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000006.12:g.70115839_70115842dup, NC_000006.12:g.70115826_70115842T[21]GT[2]T[23], NC_000006.12:g.70115826_70115842T[21]GTT[2]T[21], NC_000006.12:g.70115838_70115842dup, NC_000006.12:g.70115837_70115842dup, NC_000006.12:g.70115826_70115842T[23]GGTGTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000006.12:g.70115836_70115842dup, NC_000006.12:g.70115835_70115842dup, NC_000006.12:g.70115834_70115842dup, NC_000006.12:g.70115833_70115842dup, NC_000006.12:g.70115832_70115842dup, NC_000006.12:g.70115831_70115842dup, NC_000006.12:g.70115830_70115842dup, NC_000006.12:g.70115829_70115842dup, NC_000006.12:g.70115828_70115842dup, NC_000006.12:g.70115826_70115842dup, NC_000006.12:g.70115842_70115843insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.70825730_70825734del, NC_000006.11:g.70825731_70825734del, NC_000006.11:g.70825732_70825734del, NC_000006.11:g.70825733_70825734del, NC_000006.11:g.70825734del, NC_000006.11:g.70825734dup, NC_000006.11:g.70825733_70825734dup, NC_000006.11:g.70825732_70825734dup, NC_000006.11:g.70825718_70825734T[20]GGTGTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000006.11:g.70825718_70825734T[20]GGTTTTTTGTTTTTTTTTTTTTTTTTTT[1], NC_000006.11:g.70825718_70825734T[20]GGTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000006.11:g.70825731_70825734dup, NC_000006.11:g.70825718_70825734T[21]GT[2]T[23], NC_000006.11:g.70825718_70825734T[21]GTT[2]T[21], NC_000006.11:g.70825730_70825734dup, NC_000006.11:g.70825729_70825734dup, NC_000006.11:g.70825718_70825734T[23]GGTGTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000006.11:g.70825728_70825734dup, NC_000006.11:g.70825727_70825734dup, NC_000006.11:g.70825726_70825734dup, NC_000006.11:g.70825725_70825734dup, NC_000006.11:g.70825724_70825734dup, NC_000006.11:g.70825723_70825734dup, NC_000006.11:g.70825722_70825734dup, NC_000006.11:g.70825721_70825734dup, NC_000006.11:g.70825720_70825734dup, NC_000006.11:g.70825718_70825734dup, NC_000006.11:g.70825734_70825735insTTTTTTTTTTTTTTTTTTTTTTTTT

                      11.

                      rs1491466626 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        CA>- [Show Flanks]
                        Chromosome:
                        6:70206634 (GRCh38)
                        6:70916338 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:70206633:CA:
                        Gene:
                        COL19A1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        -=0.02976/353 (ALFA)
                        -=0.00205/58 (TOMMO)
                        -=0.00787/14 (Korea1K)
                        HGVS:

                        12.

                        rs1491453623 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->T [Show Flanks]
                          Chromosome:
                          6:70016365 (GRCh38)
                          6:70726258 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:70016365:T:TT
                          Gene:
                          COL19A1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          TT=0./0 (ALFA)
                          HGVS:

                          13.

                          rs1491452555 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->G [Show Flanks]
                            Chromosome:
                            6:69997049 (GRCh38)
                            6:70706942 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:69997049::G
                            Gene:
                            COL19A1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            G=0.001192/160 (GnomAD)
                            G=0.00775/130 (TOMMO)
                            G=0.0131/24 (Korea1K)
                            HGVS:

                            14.

                            rs1491434562 has merged into rs34047162 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AAAAAAAAAAA>-,AA,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                              Chromosome:
                              6:70045325 (GRCh38)
                              6:70755217 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:70045312:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:70045312:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:70045312:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:70045312:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:70045312:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:70045312:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:70045312:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:70045312:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:70045312:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:70045312:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:70045312:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:70045312:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:70045312:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:70045312:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:70045312:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:70045312:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                              Gene:
                              COL19A1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAAAAAAAAAAAAA=0./0 (ALFA)
                              -=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000006.12:g.70045325_70045335del, NC_000006.12:g.70045327_70045335del, NC_000006.12:g.70045328_70045335del, NC_000006.12:g.70045331_70045335del, NC_000006.12:g.70045332_70045335del, NC_000006.12:g.70045333_70045335del, NC_000006.12:g.70045334_70045335del, NC_000006.12:g.70045335del, NC_000006.12:g.70045335dup, NC_000006.12:g.70045334_70045335dup, NC_000006.12:g.70045333_70045335dup, NC_000006.12:g.70045332_70045335dup, NC_000006.12:g.70045331_70045335dup, NC_000006.12:g.70045330_70045335dup, NC_000006.12:g.70045328_70045335dup, NC_000006.12:g.70045335_70045336insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.70755217_70755227del, NC_000006.11:g.70755219_70755227del, NC_000006.11:g.70755220_70755227del, NC_000006.11:g.70755223_70755227del, NC_000006.11:g.70755224_70755227del, NC_000006.11:g.70755225_70755227del, NC_000006.11:g.70755226_70755227del, NC_000006.11:g.70755227del, NC_000006.11:g.70755227dup, NC_000006.11:g.70755226_70755227dup, NC_000006.11:g.70755225_70755227dup, NC_000006.11:g.70755224_70755227dup, NC_000006.11:g.70755223_70755227dup, NC_000006.11:g.70755222_70755227dup, NC_000006.11:g.70755220_70755227dup, NC_000006.11:g.70755227_70755228insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

                              15.

                              rs1491406124 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->C [Show Flanks]
                                Chromosome:
                                6:70016384 (GRCh38)
                                6:70726277 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:70016384:C:CC
                                Gene:
                                COL19A1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                CC=0./0 (ALFA)
                                C=0.000009/1 (GnomAD)
                                HGVS:

                                16.

                                rs1491398963 [Homo sapiens]
                                  Variant type:
                                  SNV:
                                  Alleles:
                                  ->GA
                                  Chromosome:
                                  no mapping
                                  Canonical SPDI:

                                  17.

                                  rs1491377548 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->TATA [Show Flanks]
                                    Chromosome:
                                    6:69921132 (GRCh38)
                                    6:70631025 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:69921132:A:ATATA
                                    Gene:
                                    COL19A1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    ATAT=0.000265/28 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1491343464 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->GTTT [Show Flanks]
                                      Chromosome:
                                      6:70115826 (GRCh38)
                                      6:70825719 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:70115826:TTT:TTTGTTT
                                      Gene:
                                      COL19A1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      TTTGTTT=0./0 (ALFA)
                                      TTTG=0.0001/2 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1491339466 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CA>- [Show Flanks]
                                        Chromosome:
                                        6:69921134 (GRCh38)
                                        6:70631026 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:69921131:CACA:CA
                                        Gene:
                                        COL19A1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        CACA=0./0 (ALFA)
                                        -=0.000027/3 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1491327079 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TT>- [Show Flanks]
                                          Chromosome:
                                          6:70083600 (GRCh38)
                                          6:70793492 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:70083598:TTT:T
                                          Gene:
                                          COL19A1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          HGVS:

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