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Items: 1 to 20 of 9477

1.

rs1491560117 has merged into rs573706904 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
    Chromosome:
    4:158689608 (GRCh38)
    4:159610760 (GRCh37)
    Canonical SPDI:
    NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000004.12:158689595:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
    Gene:
    ETFDH (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ATATATATATAT=0./0 (ALFA)
    HGVS:
    NC_000004.12:g.158689596AT[6], NC_000004.12:g.158689596AT[7], NC_000004.12:g.158689596AT[8], NC_000004.12:g.158689596AT[9], NC_000004.12:g.158689596AT[10], NC_000004.12:g.158689596AT[11], NC_000004.12:g.158689596AT[12], NC_000004.12:g.158689596AT[13], NC_000004.12:g.158689596AT[14], NC_000004.12:g.158689596AT[15], NC_000004.12:g.158689596AT[16], NC_000004.12:g.158689596AT[17], NC_000004.12:g.158689596AT[18], NC_000004.12:g.158689596AT[19], NC_000004.12:g.158689596AT[20], NC_000004.12:g.158689596AT[22], NC_000004.12:g.158689596AT[23], NC_000004.12:g.158689596AT[24], NC_000004.12:g.158689596AT[25], NC_000004.12:g.158689596AT[26], NC_000004.12:g.158689596AT[27], NC_000004.12:g.158689596AT[28], NC_000004.12:g.158689596AT[29], NC_000004.12:g.158689596AT[30], NC_000004.12:g.158689596AT[31], NC_000004.12:g.158689596AT[32], NC_000004.12:g.158689596AT[33], NC_000004.11:g.159610748AT[6], NC_000004.11:g.159610748AT[7], NC_000004.11:g.159610748AT[8], NC_000004.11:g.159610748AT[9], NC_000004.11:g.159610748AT[10], NC_000004.11:g.159610748AT[11], NC_000004.11:g.159610748AT[12], NC_000004.11:g.159610748AT[13], NC_000004.11:g.159610748AT[14], NC_000004.11:g.159610748AT[15], NC_000004.11:g.159610748AT[16], NC_000004.11:g.159610748AT[17], NC_000004.11:g.159610748AT[18], NC_000004.11:g.159610748AT[19], NC_000004.11:g.159610748AT[20], NC_000004.11:g.159610748AT[22], NC_000004.11:g.159610748AT[23], NC_000004.11:g.159610748AT[24], NC_000004.11:g.159610748AT[25], NC_000004.11:g.159610748AT[26], NC_000004.11:g.159610748AT[27], NC_000004.11:g.159610748AT[28], NC_000004.11:g.159610748AT[29], NC_000004.11:g.159610748AT[30], NC_000004.11:g.159610748AT[31], NC_000004.11:g.159610748AT[32], NC_000004.11:g.159610748AT[33], NG_007078.2:g.22255AT[6], NG_007078.2:g.22255AT[7], NG_007078.2:g.22255AT[8], NG_007078.2:g.22255AT[9], NG_007078.2:g.22255AT[10], NG_007078.2:g.22255AT[11], NG_007078.2:g.22255AT[12], NG_007078.2:g.22255AT[13], NG_007078.2:g.22255AT[14], NG_007078.2:g.22255AT[15], NG_007078.2:g.22255AT[16], NG_007078.2:g.22255AT[17], NG_007078.2:g.22255AT[18], NG_007078.2:g.22255AT[19], NG_007078.2:g.22255AT[20], NG_007078.2:g.22255AT[22], NG_007078.2:g.22255AT[23], NG_007078.2:g.22255AT[24], NG_007078.2:g.22255AT[25], NG_007078.2:g.22255AT[26], NG_007078.2:g.22255AT[27], NG_007078.2:g.22255AT[28], NG_007078.2:g.22255AT[29], NG_007078.2:g.22255AT[30], NG_007078.2:g.22255AT[31], NG_007078.2:g.22255AT[32], NG_007078.2:g.22255AT[33]
    2.

    rs1491530268 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TT>- [Show Flanks]
      Chromosome:
      4:158689637 (GRCh38)
      4:159610789 (GRCh37)
      Canonical SPDI:
      NC_000004.12:158689636:TT:
      Gene:
      ETFDH (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1491477278 has merged into rs1056213642 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AT>-,ATAT,ATATAT,ATATATAT [Show Flanks]
        Chromosome:
        4:158692907 (GRCh38)
        4:159614059 (GRCh37)
        Canonical SPDI:
        NC_000004.12:158692890:ATATATATATATATATAT:ATATATATATATATAT,NC_000004.12:158692890:ATATATATATATATATAT:ATATATATATATATATATAT,NC_000004.12:158692890:ATATATATATATATATAT:ATATATATATATATATATATAT,NC_000004.12:158692890:ATATATATATATATATAT:ATATATATATATATATATATATAT
        Gene:
        ETFDH (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        ATATATATATATATATATAT=0./0 (ALFA)
        HGVS:
        4.

        rs1491412381 has merged into rs70962622 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          4:158680093 (GRCh38)
          4:159601245 (GRCh37)
          Canonical SPDI:
          NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:158680084:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAA
          Gene:
          ETFDH (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAA=0./0 (ALFA)
          HGVS:
          NC_000004.12:g.158680093_158680101del, NC_000004.12:g.158680094_158680101del, NC_000004.12:g.158680095_158680101del, NC_000004.12:g.158680096_158680101del, NC_000004.12:g.158680097_158680101del, NC_000004.12:g.158680098_158680101del, NC_000004.12:g.158680099_158680101del, NC_000004.12:g.158680100_158680101del, NC_000004.12:g.158680101del, NC_000004.12:g.158680101dup, NC_000004.12:g.158680100_158680101dup, NC_000004.12:g.158680099_158680101dup, NC_000004.12:g.158680098_158680101dup, NC_000004.12:g.158680097_158680101dup, NC_000004.12:g.158680096_158680101dup, NC_000004.12:g.158680095_158680101dup, NC_000004.12:g.158680094_158680101dup, NC_000004.12:g.158680093_158680101dup, NC_000004.12:g.158680092_158680101dup, NC_000004.12:g.158680091_158680101dup, NC_000004.12:g.158680090_158680101dup, NC_000004.12:g.158680089_158680101dup, NC_000004.12:g.158680088_158680101dup, NC_000004.12:g.158680087_158680101dup, NC_000004.12:g.158680101_158680102insAAAAAAAAAAAAAAAAAA, NC_000004.12:g.158680101_158680102insAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.158680101_158680102insAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.158680101_158680102insAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.158680101_158680102insAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.158680101_158680102insAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.158680101_158680102insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.158680101_158680102insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.158680101_158680102insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.158680101_158680102insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.158680101_158680102insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.158680101_158680102insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.158680101_158680102insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.158680101_158680102insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.158680101_158680102insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.158680085_158680101A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.158680085_158680101A[29]GAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.159601245_159601253del, NC_000004.11:g.159601246_159601253del, NC_000004.11:g.159601247_159601253del, NC_000004.11:g.159601248_159601253del, NC_000004.11:g.159601249_159601253del, NC_000004.11:g.159601250_159601253del, NC_000004.11:g.159601251_159601253del, NC_000004.11:g.159601252_159601253del, NC_000004.11:g.159601253del, NC_000004.11:g.159601253dup, NC_000004.11:g.159601252_159601253dup, NC_000004.11:g.159601251_159601253dup, NC_000004.11:g.159601250_159601253dup, NC_000004.11:g.159601249_159601253dup, NC_000004.11:g.159601248_159601253dup, NC_000004.11:g.159601247_159601253dup, NC_000004.11:g.159601246_159601253dup, NC_000004.11:g.159601245_159601253dup, NC_000004.11:g.159601244_159601253dup, NC_000004.11:g.159601243_159601253dup, NC_000004.11:g.159601242_159601253dup, NC_000004.11:g.159601241_159601253dup, NC_000004.11:g.159601240_159601253dup, NC_000004.11:g.159601239_159601253dup, NC_000004.11:g.159601253_159601254insAAAAAAAAAAAAAAAAAA, NC_000004.11:g.159601253_159601254insAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.159601253_159601254insAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.159601253_159601254insAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.159601253_159601254insAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.159601253_159601254insAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.159601253_159601254insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.159601253_159601254insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.159601253_159601254insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.159601253_159601254insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.159601253_159601254insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.159601253_159601254insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.159601253_159601254insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.159601253_159601254insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.159601253_159601254insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.159601237_159601253A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.159601237_159601253A[29]GAAAAAAAAAAAAAAAAAAA[1], NG_007078.2:g.12752_12760del, NG_007078.2:g.12753_12760del, NG_007078.2:g.12754_12760del, NG_007078.2:g.12755_12760del, NG_007078.2:g.12756_12760del, NG_007078.2:g.12757_12760del, NG_007078.2:g.12758_12760del, NG_007078.2:g.12759_12760del, NG_007078.2:g.12760del, NG_007078.2:g.12760dup, NG_007078.2:g.12759_12760dup, NG_007078.2:g.12758_12760dup, NG_007078.2:g.12757_12760dup, NG_007078.2:g.12756_12760dup, NG_007078.2:g.12755_12760dup, NG_007078.2:g.12754_12760dup, NG_007078.2:g.12753_12760dup, NG_007078.2:g.12752_12760dup, NG_007078.2:g.12751_12760dup, NG_007078.2:g.12750_12760dup, NG_007078.2:g.12749_12760dup, NG_007078.2:g.12748_12760dup, NG_007078.2:g.12747_12760dup, NG_007078.2:g.12746_12760dup, NG_007078.2:g.12760_12761insAAAAAAAAAAAAAAAAAA, NG_007078.2:g.12760_12761insAAAAAAAAAAAAAAAAAAA, NG_007078.2:g.12760_12761insAAAAAAAAAAAAAAAAAAAA, NG_007078.2:g.12760_12761insAAAAAAAAAAAAAAAAAAAAA, NG_007078.2:g.12760_12761insAAAAAAAAAAAAAAAAAAAAAA, NG_007078.2:g.12760_12761insAAAAAAAAAAAAAAAAAAAAAAA, NG_007078.2:g.12760_12761insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007078.2:g.12760_12761insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007078.2:g.12760_12761insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007078.2:g.12760_12761insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007078.2:g.12760_12761insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007078.2:g.12760_12761insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007078.2:g.12760_12761insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007078.2:g.12760_12761insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007078.2:g.12760_12761insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007078.2:g.12744_12760A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_007078.2:g.12744_12760A[29]GAAAAAAAAAAAAAAAAAAA[1]
          5.

          rs1491400830 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GA>- [Show Flanks]
            Chromosome:
            4:158692873 (GRCh38)
            4:159614025 (GRCh37)
            Canonical SPDI:
            NC_000004.12:158692871:AGA:A
            Gene:
            ETFDH (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.000084/1 (ALFA)
            -=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1491173228 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->GAAAAA [Show Flanks]
              Chromosome:
              4:158680085 (GRCh38)
              4:159601238 (GRCh37)
              Canonical SPDI:
              NC_000004.12:158680085:AAAAA:AAAAAGAAAAA
              Gene:
              ETFDH (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              AAAAAGAAAAA=0./0 (ALFA)
              AAAAAG=0.00002/1 (GnomAD)
              HGVS:
              7.

              rs1491164280 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->G [Show Flanks]
                Chromosome:
                4:158692872 (GRCh38)
                4:159614025 (GRCh37)
                Canonical SPDI:
                NC_000004.12:158692872:G:GG
                Gene:
                ETFDH (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency
                MAF:
                G=0.00001/1 (GnomAD)
                HGVS:
                8.

                rs1491136874 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  4:158689595 (GRCh38)
                  4:159610747 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:158689594:CA:
                  Gene:
                  ETFDH (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0.00008/1 (ALFA)
                  HGVS:
                  9.

                  rs1490971375 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    4:158691983 (GRCh38)
                    4:159613135 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:158691982:G:C
                    Gene:
                    ETFDH (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490861089 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      4:158710387 (GRCh38)
                      4:159631539 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:158710386:C:G,NC_000004.12:158710386:C:T
                      Gene:
                      PPID (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1490824888 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        4:158667994 (GRCh38)
                        4:159589146 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:158667993:G:A
                        Gene:
                        C4orf46 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000034/9 (TOPMED)
                        A=0.000036/5 (GnomAD)
                        G=0.5/1 (SGDP_PRJ)
                        HGVS:
                        12.

                        rs1490787872 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          4:158686193 (GRCh38)
                          4:159607345 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:158686192:T:C
                          Gene:
                          ETFDH (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1490661011 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            4:158669525 (GRCh38)
                            4:159590677 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:158669524:G:A
                            Gene:
                            C4orf46 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490610061 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G [Show Flanks]
                              Chromosome:
                              4:158671946 (GRCh38)
                              4:159593098 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:158671945:C:A,NC_000004.12:158671945:C:G
                              Gene:
                              ETFDH (Varview), C4orf46 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1490600212 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                4:158668285 (GRCh38)
                                4:159589437 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:158668284:T:C
                                Gene:
                                C4orf46 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1490581359 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  4:158683952 (GRCh38)
                                  4:159605104 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:158683951:C:T
                                  Gene:
                                  ETFDH (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490550845 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    4:158684939 (GRCh38)
                                    4:159606091 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:158684938:T:G
                                    Gene:
                                    ETFDH (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490437431 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      4:158709033 (GRCh38)
                                      4:159630185 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:158709032:G:T
                                      Gene:
                                      ETFDH (Varview), PPID (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant,downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      G=0.5/1 (SGDP_PRJ)
                                      HGVS:
                                      19.

                                      rs1490400010 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT [Show Flanks]
                                        Chromosome:
                                        4:158709016 (GRCh38)
                                        4:159630169 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:158709016:GT:GTGT,NC_000004.12:158709016:GT:GTGTGT,NC_000004.12:158709016:GT:GTGTGTGT,NC_000004.12:158709016:GT:GTGTGTGTGT,NC_000004.12:158709016:GT:GTGTGTGTGTGT,NC_000004.12:158709016:GT:GTGTGTGTGTGTGT,NC_000004.12:158709016:GT:GTGTGTGTGTGTGTGT
                                        Gene:
                                        ETFDH (Varview), PPID (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant,downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        GTGTGT=0./0 (ALFA)
                                        HGVS:
                                        NC_000004.12:g.158709017_158709018dup, NC_000004.12:g.158709017GT[3], NC_000004.12:g.158709017GT[4], NC_000004.12:g.158709017GT[5], NC_000004.12:g.158709017GT[6], NC_000004.12:g.158709017GT[7], NC_000004.12:g.158709017GT[8], NC_000004.11:g.159630169_159630170dup, NC_000004.11:g.159630169GT[3], NC_000004.11:g.159630169GT[4], NC_000004.11:g.159630169GT[5], NC_000004.11:g.159630169GT[6], NC_000004.11:g.159630169GT[7], NC_000004.11:g.159630169GT[8], NG_007078.2:g.41676_41677dup, NG_007078.2:g.41676GT[3], NG_007078.2:g.41676GT[4], NG_007078.2:g.41676GT[5], NG_007078.2:g.41676GT[6], NG_007078.2:g.41676GT[7], NG_007078.2:g.41676GT[8], NM_004453.4:c.*490_*491dup, NM_004453.4:c.*490GT[3], NM_004453.4:c.*490GT[4], NM_004453.4:c.*490GT[5], NM_004453.4:c.*490GT[6], NM_004453.4:c.*490GT[7], NM_004453.4:c.*490GT[8], NM_001281737.2:c.*490_*491dup, NM_001281737.2:c.*490GT[3], NM_001281737.2:c.*490GT[4], NM_001281737.2:c.*490GT[5], NM_001281737.2:c.*490GT[6], NM_001281737.2:c.*490GT[7], NM_001281737.2:c.*490GT[8]
                                        20.

                                        rs1490374679 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G,T [Show Flanks]
                                          Chromosome:
                                          4:158709893 (GRCh38)
                                          4:159631045 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:158709892:A:G,NC_000004.12:158709892:A:T
                                          Gene:
                                          ETFDH (Varview), PPID (Varview)
                                          Functional Consequence:
                                          intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:

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