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Items: 1 to 20 of 35516

1.

rs1491551197 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->CTT [Show Flanks]
    Chromosome:
    17:8578244 (GRCh38)
    17:8481563 (GRCh37)
    Canonical SPDI:
    NC_000017.11:8578244:TT:TTCTT
    Gene:
    MYH10 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTCTT=0.00093/11 (ALFA)
    TTC=0.09601/183 (GnomAD)
    HGVS:
    2.

    rs1491536549 has merged into rs35474546 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAA [Show Flanks]
      Chromosome:
      17:8561657 (GRCh38)
      17:8464975 (GRCh37)
      Canonical SPDI:
      NC_000017.11:8561643:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:8561643:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:8561643:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:8561643:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:8561643:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:8561643:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:8561643:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      MYH10 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAAAA=0./0 (ALFA)
      A=0.0008/3 (TWINSUK)
      A=0.0021/8 (ALSPAC)
      A=0.4061/1514 (1000Genomes)
      HGVS:
      NC_000017.11:g.8561657_8561659del, NC_000017.11:g.8561658_8561659del, NC_000017.11:g.8561659del, NC_000017.11:g.8561659dup, NC_000017.11:g.8561658_8561659dup, NC_000017.11:g.8561657_8561659dup, NC_000017.11:g.8561652_8561659dup, NC_000017.10:g.8464975_8464977del, NC_000017.10:g.8464976_8464977del, NC_000017.10:g.8464977del, NC_000017.10:g.8464977dup, NC_000017.10:g.8464976_8464977dup, NC_000017.10:g.8464975_8464977dup, NC_000017.10:g.8464970_8464977dup, NG_011282.3:g.555_557del, NG_011282.3:g.556_557del, NG_011282.3:g.557del, NG_011282.3:g.557dup, NG_011282.3:g.556_557dup, NG_011282.3:g.555_557dup, NG_011282.3:g.550_557dup, NG_042305.2:g.74116_74118del, NG_042305.2:g.74117_74118del, NG_042305.2:g.74118del, NG_042305.2:g.74118dup, NG_042305.2:g.74117_74118dup, NG_042305.2:g.74116_74118dup, NG_042305.2:g.74111_74118dup, NG_042305.1:g.74116_74118del, NG_042305.1:g.74117_74118del, NG_042305.1:g.74118del, NG_042305.1:g.74118dup, NG_042305.1:g.74117_74118dup, NG_042305.1:g.74116_74118dup, NG_042305.1:g.74111_74118dup
      3.

      rs1491513138 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AA>- [Show Flanks]
        Chromosome:
        17:8551153 (GRCh38)
        17:8454471 (GRCh37)
        Canonical SPDI:
        NC_000017.11:8551152:AA:
        Gene:
        MYH10 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0./0 (ALFA)
        -=0.0008/3 (ALSPAC)
        -=0.0016/6 (TWINSUK)
        HGVS:
        4.

        rs1491474398 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->T [Show Flanks]
          Chromosome:
          17:8499574 (GRCh38)
          17:8402893 (GRCh37)
          Canonical SPDI:
          NC_000017.11:8499574:T:TT
          Gene:
          MYH10 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TT=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1491471640 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            TG>- [Show Flanks]
            Chromosome:
            17:8515560 (GRCh38)
            17:8418878 (GRCh37)
            Canonical SPDI:
            NC_000017.11:8515559:TG:
            Gene:
            MYH10 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            HGVS:
            6.

            rs1491461443 has merged into rs562174128 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              17:8515544 (GRCh38)
              17:8418862 (GRCh37)
              Canonical SPDI:
              NC_000017.11:8515533:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:8515533:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:8515533:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:8515533:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:8515533:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:8515533:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:8515533:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:8515533:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:8515533:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:8515533:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:8515533:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:8515533:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:8515533:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:8515533:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:8515533:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:8515533:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:8515533:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:8515533:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:8515533:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:8515533:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:8515533:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:8515533:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:8515533:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:8515533:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:8515533:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              MYH10 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTT=0./0 (ALFA)
              -=0.3/12 (GENOME_DK)
              HGVS:
              NC_000017.11:g.8515544_8515560del, NC_000017.11:g.8515545_8515560del, NC_000017.11:g.8515546_8515560del, NC_000017.11:g.8515547_8515560del, NC_000017.11:g.8515548_8515560del, NC_000017.11:g.8515549_8515560del, NC_000017.11:g.8515550_8515560del, NC_000017.11:g.8515551_8515560del, NC_000017.11:g.8515552_8515560del, NC_000017.11:g.8515553_8515560del, NC_000017.11:g.8515554_8515560del, NC_000017.11:g.8515555_8515560del, NC_000017.11:g.8515556_8515560del, NC_000017.11:g.8515557_8515560del, NC_000017.11:g.8515558_8515560del, NC_000017.11:g.8515559_8515560del, NC_000017.11:g.8515560del, NC_000017.11:g.8515560dup, NC_000017.11:g.8515559_8515560dup, NC_000017.11:g.8515558_8515560dup, NC_000017.11:g.8515557_8515560dup, NC_000017.11:g.8515556_8515560dup, NC_000017.11:g.8515555_8515560dup, NC_000017.11:g.8515554_8515560dup, NC_000017.11:g.8515553_8515560dup, NC_000017.10:g.8418862_8418878del, NC_000017.10:g.8418863_8418878del, NC_000017.10:g.8418864_8418878del, NC_000017.10:g.8418865_8418878del, NC_000017.10:g.8418866_8418878del, NC_000017.10:g.8418867_8418878del, NC_000017.10:g.8418868_8418878del, NC_000017.10:g.8418869_8418878del, NC_000017.10:g.8418870_8418878del, NC_000017.10:g.8418871_8418878del, NC_000017.10:g.8418872_8418878del, NC_000017.10:g.8418873_8418878del, NC_000017.10:g.8418874_8418878del, NC_000017.10:g.8418875_8418878del, NC_000017.10:g.8418876_8418878del, NC_000017.10:g.8418877_8418878del, NC_000017.10:g.8418878del, NC_000017.10:g.8418878dup, NC_000017.10:g.8418877_8418878dup, NC_000017.10:g.8418876_8418878dup, NC_000017.10:g.8418875_8418878dup, NC_000017.10:g.8418874_8418878dup, NC_000017.10:g.8418873_8418878dup, NC_000017.10:g.8418872_8418878dup, NC_000017.10:g.8418871_8418878dup, NG_042305.2:g.120212_120228del, NG_042305.2:g.120213_120228del, NG_042305.2:g.120214_120228del, NG_042305.2:g.120215_120228del, NG_042305.2:g.120216_120228del, NG_042305.2:g.120217_120228del, NG_042305.2:g.120218_120228del, NG_042305.2:g.120219_120228del, NG_042305.2:g.120220_120228del, NG_042305.2:g.120221_120228del, NG_042305.2:g.120222_120228del, NG_042305.2:g.120223_120228del, NG_042305.2:g.120224_120228del, NG_042305.2:g.120225_120228del, NG_042305.2:g.120226_120228del, NG_042305.2:g.120227_120228del, NG_042305.2:g.120228del, NG_042305.2:g.120228dup, NG_042305.2:g.120227_120228dup, NG_042305.2:g.120226_120228dup, NG_042305.2:g.120225_120228dup, NG_042305.2:g.120224_120228dup, NG_042305.2:g.120223_120228dup, NG_042305.2:g.120222_120228dup, NG_042305.2:g.120221_120228dup, NG_042305.1:g.120212_120228del, NG_042305.1:g.120213_120228del, NG_042305.1:g.120214_120228del, NG_042305.1:g.120215_120228del, NG_042305.1:g.120216_120228del, NG_042305.1:g.120217_120228del, NG_042305.1:g.120218_120228del, NG_042305.1:g.120219_120228del, NG_042305.1:g.120220_120228del, NG_042305.1:g.120221_120228del, NG_042305.1:g.120222_120228del, NG_042305.1:g.120223_120228del, NG_042305.1:g.120224_120228del, NG_042305.1:g.120225_120228del, NG_042305.1:g.120226_120228del, NG_042305.1:g.120227_120228del, NG_042305.1:g.120228del, NG_042305.1:g.120228dup, NG_042305.1:g.120227_120228dup, NG_042305.1:g.120226_120228dup, NG_042305.1:g.120225_120228dup, NG_042305.1:g.120224_120228dup, NG_042305.1:g.120223_120228dup, NG_042305.1:g.120222_120228dup, NG_042305.1:g.120221_120228dup
              8.

              rs1491423477 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TA>- [Show Flanks]
                Chromosome:
                17:8626590 (GRCh38)
                17:8529908 (GRCh37)
                Canonical SPDI:
                NC_000017.11:8626588:ATA:A
                Gene:
                MYH10 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                HGVS:
                9.

                rs1491418989 has merged into rs559562540 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                  Chromosome:
                  17:8497752 (GRCh38)
                  17:8401070 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:8497738:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:8497738:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:8497738:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:8497738:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:8497738:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:8497738:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:8497738:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:8497738:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8497738:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8497738:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8497738:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8497738:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8497738:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8497738:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8497738:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8497738:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8497738:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8497738:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8497738:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8497738:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8497738:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8497738:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8497738:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8497738:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                  Gene:
                  MYH10 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAAAAAA=0./0 (ALFA)
                  -=0.4331/2169 (1000Genomes)
                  HGVS:
                  NC_000017.11:g.8497752_8497767del, NC_000017.11:g.8497753_8497767del, NC_000017.11:g.8497754_8497767del, NC_000017.11:g.8497755_8497767del, NC_000017.11:g.8497756_8497767del, NC_000017.11:g.8497757_8497767del, NC_000017.11:g.8497758_8497767del, NC_000017.11:g.8497760_8497767del, NC_000017.11:g.8497761_8497767del, NC_000017.11:g.8497762_8497767del, NC_000017.11:g.8497763_8497767del, NC_000017.11:g.8497764_8497767del, NC_000017.11:g.8497765_8497767del, NC_000017.11:g.8497766_8497767del, NC_000017.11:g.8497767del, NC_000017.11:g.8497767dup, NC_000017.11:g.8497766_8497767dup, NC_000017.11:g.8497765_8497767dup, NC_000017.11:g.8497755_8497767dup, NC_000017.11:g.8497752_8497767dup, NC_000017.11:g.8497750_8497767dup, NC_000017.11:g.8497743_8497767dup, NC_000017.11:g.8497739_8497767dup, NC_000017.11:g.8497767_8497768insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.8401070_8401085del, NC_000017.10:g.8401071_8401085del, NC_000017.10:g.8401072_8401085del, NC_000017.10:g.8401073_8401085del, NC_000017.10:g.8401074_8401085del, NC_000017.10:g.8401075_8401085del, NC_000017.10:g.8401076_8401085del, NC_000017.10:g.8401078_8401085del, NC_000017.10:g.8401079_8401085del, NC_000017.10:g.8401080_8401085del, NC_000017.10:g.8401081_8401085del, NC_000017.10:g.8401082_8401085del, NC_000017.10:g.8401083_8401085del, NC_000017.10:g.8401084_8401085del, NC_000017.10:g.8401085del, NC_000017.10:g.8401085dup, NC_000017.10:g.8401084_8401085dup, NC_000017.10:g.8401083_8401085dup, NC_000017.10:g.8401073_8401085dup, NC_000017.10:g.8401070_8401085dup, NC_000017.10:g.8401068_8401085dup, NC_000017.10:g.8401061_8401085dup, NC_000017.10:g.8401057_8401085dup, NC_000017.10:g.8401085_8401086insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_042305.2:g.138008_138023del, NG_042305.2:g.138009_138023del, NG_042305.2:g.138010_138023del, NG_042305.2:g.138011_138023del, NG_042305.2:g.138012_138023del, NG_042305.2:g.138013_138023del, NG_042305.2:g.138014_138023del, NG_042305.2:g.138016_138023del, NG_042305.2:g.138017_138023del, NG_042305.2:g.138018_138023del, NG_042305.2:g.138019_138023del, NG_042305.2:g.138020_138023del, NG_042305.2:g.138021_138023del, NG_042305.2:g.138022_138023del, NG_042305.2:g.138023del, NG_042305.2:g.138023dup, NG_042305.2:g.138022_138023dup, NG_042305.2:g.138021_138023dup, NG_042305.2:g.138011_138023dup, NG_042305.2:g.138008_138023dup, NG_042305.2:g.138006_138023dup, NG_042305.2:g.137999_138023dup, NG_042305.2:g.137995_138023dup, NG_042305.2:g.138023_138024insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042305.1:g.138008_138023del, NG_042305.1:g.138009_138023del, NG_042305.1:g.138010_138023del, NG_042305.1:g.138011_138023del, NG_042305.1:g.138012_138023del, NG_042305.1:g.138013_138023del, NG_042305.1:g.138014_138023del, NG_042305.1:g.138016_138023del, NG_042305.1:g.138017_138023del, NG_042305.1:g.138018_138023del, NG_042305.1:g.138019_138023del, NG_042305.1:g.138020_138023del, NG_042305.1:g.138021_138023del, NG_042305.1:g.138022_138023del, NG_042305.1:g.138023del, NG_042305.1:g.138023dup, NG_042305.1:g.138022_138023dup, NG_042305.1:g.138021_138023dup, NG_042305.1:g.138011_138023dup, NG_042305.1:g.138008_138023dup, NG_042305.1:g.138006_138023dup, NG_042305.1:g.137999_138023dup, NG_042305.1:g.137995_138023dup, NG_042305.1:g.138023_138024insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                  10.

                  rs1491378246 has merged into rs5819200 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
                    Chromosome:
                    17:8579291 (GRCh38)
                    17:8482609 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:8579277:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:8579277:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:8579277:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:8579277:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:8579277:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
                    Gene:
                    MYH10 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
                    A=0.2813/1409 (1000Genomes)
                    A=0.3205/191 (NorthernSweden)
                    A=0.325/13 (GENOME_DK)
                    HGVS:
                    11.

                    rs1491346712 [Homo sapiens]
                      Variant type:
                      SNV:
                      Alleles:
                      ->CT
                      Chromosome:
                      no mapping
                      Canonical SPDI:
                      12.

                      rs1491315625 has merged into rs3067096 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAA>-,A,AA,AAAA [Show Flanks]
                        Chromosome:
                        17:8563905 (GRCh38)
                        17:8467223 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:8563891:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:8563891:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:8563891:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:8563891:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
                        Gene:
                        MYH10 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAAAAAAA=0./0 (ALFA)
                        HGVS:
                        13.

                        rs1491313241 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          CA>- [Show Flanks]
                          Chromosome:
                          17:8497738 (GRCh38)
                          17:8401056 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:8497737:CA:
                          Gene:
                          MYH10 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0.00826/98 (ALFA)
                          -=0.00045/6 (GnomAD)
                          HGVS:
                          14.

                          rs1491294459 has merged into rs77622480 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TT>-,T,TTT,TTTT,TTTTTTTTT [Show Flanks]
                            Chromosome:
                            17:8583419 (GRCh38)
                            17:8486737 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:8583409:TTTTTTTTTTT:TTTTTTTTT,NC_000017.11:8583409:TTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:8583409:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:8583409:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:8583409:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
                            Gene:
                            MYH10 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTTTTTTTTTTT=0.00006/1 (ALFA)
                            HGVS:
                            15.

                            rs1491287334 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->TT [Show Flanks]
                              Chromosome:
                              17:8498005 (GRCh38)
                              17:8401324 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:8498005::TT
                              Gene:
                              MYH10 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency
                              MAF:
                              TT=0.000009/1 (GnomAD)
                              HGVS:
                              16.

                              rs1491285680 has merged into rs1380112695 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                A>-,AA,AAA,AAAAA [Show Flanks]
                                Chromosome:
                                17:8551162 (GRCh38)
                                17:8454480 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:8551161:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:8551161:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:8551161:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:8551161:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
                                Gene:
                                MYH10 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAAAAAAAAAAAAAA=0./0 (ALFA)
                                -=0.00006/1 (TOMMO)
                                HGVS:
                                17.

                                rs1491284259 has merged into rs1555570827 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AAA>-,A,AA [Show Flanks]
                                  Chromosome:
                                  17:8489707 (GRCh38)
                                  17:8393025 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:8489703:AAAAAA:AAA,NC_000017.11:8489703:AAAAAA:AAAA,NC_000017.11:8489703:AAAAAA:AAAAA
                                  Gene:
                                  MYH10 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AAAAA=0./0 (ALFA)
                                  -=0.00089/14 (TOMMO)
                                  -=0.02501/121 (GnomAD)
                                  HGVS:
                                  18.

                                  rs1491280185 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    CA>- [Show Flanks]
                                    Chromosome:
                                    17:8610271 (GRCh38)
                                    17:8513589 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:8610270:CA:
                                    Gene:
                                    MYH10 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    -=0./0 (ALFA)
                                    HGVS:
                                    19.

                                    rs1491268436 [Homo sapiens]
                                      Variant type:
                                      INS
                                      Alleles:
                                      ->AA,AAA [Show Flanks]
                                      Chromosome:
                                      17:8551159 (GRCh38)
                                      17:8454478 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:8551159::AA,NC_000017.11:8551159::AAA
                                      Gene:
                                      MYH10 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAA=0./0 (ALFA)
                                      AAA=0.00025/2 (GnomAD)
                                      HGVS:
                                      20.

                                      rs1491261955 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        CT>- [Show Flanks]
                                        Chromosome:
                                        17:8592933 (GRCh38)
                                        17:8496251 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:8592932:CT:
                                        Gene:
                                        MYH10 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0./0 (ALFA)
                                        HGVS:

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