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Items: 1 to 20 of 1000

1.

rs1491511149 has merged into rs571711008 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    6:134006200 (GRCh38)
    6:134327338 (GRCh37)
    Canonical SPDI:
    NC_000006.12:134006193:AAAAAAAAAAA:AAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134006193:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    SLC2A12 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAA=0./0 (ALFA)
    -=0.1711/857 (1000Genomes)
    HGVS:
    NC_000006.12:g.134006200_134006204del, NC_000006.12:g.134006202_134006204del, NC_000006.12:g.134006203_134006204del, NC_000006.12:g.134006204del, NC_000006.12:g.134006204dup, NC_000006.12:g.134006203_134006204dup, NC_000006.12:g.134006202_134006204dup, NC_000006.12:g.134006201_134006204dup, NC_000006.12:g.134006200_134006204dup, NC_000006.12:g.134006199_134006204dup, NC_000006.12:g.134006198_134006204dup, NC_000006.12:g.134006196_134006204dup, NC_000006.12:g.134006204_134006205insAAAAAAAAAAAA, NC_000006.12:g.134006204_134006205insAAAAAAAAAAAAA, NC_000006.12:g.134006204_134006205insAAAAAAAAAAAAAA, NC_000006.12:g.134006204_134006205insAAAAAAAAAAAAAAA, NC_000006.12:g.134006204_134006205insAAAAAAAAAAAAAAAA, NC_000006.12:g.134006204_134006205insAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.134006204_134006205insAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.134006204_134006205insAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.134006204_134006205insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.134006204_134006205insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.134006204_134006205insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.134006204_134006205insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.134006204_134006205insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.134006204_134006205insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.134006204_134006205insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.134327338_134327342del, NC_000006.11:g.134327340_134327342del, NC_000006.11:g.134327341_134327342del, NC_000006.11:g.134327342del, NC_000006.11:g.134327342dup, NC_000006.11:g.134327341_134327342dup, NC_000006.11:g.134327340_134327342dup, NC_000006.11:g.134327339_134327342dup, NC_000006.11:g.134327338_134327342dup, NC_000006.11:g.134327337_134327342dup, NC_000006.11:g.134327336_134327342dup, NC_000006.11:g.134327334_134327342dup, NC_000006.11:g.134327342_134327343insAAAAAAAAAAAA, NC_000006.11:g.134327342_134327343insAAAAAAAAAAAAA, NC_000006.11:g.134327342_134327343insAAAAAAAAAAAAAA, NC_000006.11:g.134327342_134327343insAAAAAAAAAAAAAAA, NC_000006.11:g.134327342_134327343insAAAAAAAAAAAAAAAA, NC_000006.11:g.134327342_134327343insAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.134327342_134327343insAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.134327342_134327343insAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.134327342_134327343insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.134327342_134327343insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.134327342_134327343insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.134327342_134327343insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.134327342_134327343insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.134327342_134327343insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.134327342_134327343insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

    2.

    rs1491506585 has merged into rs1359249875 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTT>-,TT,TTT [Show Flanks]
      Chromosome:
      6:134032466 (GRCh38)
      6:134353604 (GRCh37)
      Canonical SPDI:
      NC_000006.12:134032464:TTTTT:T,NC_000006.12:134032464:TTTTT:TTT,NC_000006.12:134032464:TTTTT:TTTT
      Gene:
      SLC2A12 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTT=0./0 (ALFA)
      HGVS:

      3.

      rs1491496260 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->C [Show Flanks]
        Chromosome:
        6:134006194 (GRCh38)
        6:134327333 (GRCh37)
        Canonical SPDI:
        NC_000006.12:134006194::C
        Gene:
        SLC2A12 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.00371/44 (ALFA)
        C=0.00768/647 (GnomAD)
        HGVS:

        4.

        rs1491454049 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->AT [Show Flanks]
          Chromosome:
          6:134005651 (GRCh38)
          6:134326790 (GRCh37)
          Canonical SPDI:
          NC_000006.12:134005651:T:TAT
          Gene:
          SLC2A12 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency
          MAF:
          TA=0.00058/16 (TOMMO)
          HGVS:

          5.

          rs1491439879 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            6:134006193 (GRCh38)
            6:134327331 (GRCh37)
            Canonical SPDI:
            NC_000006.12:134006191:ACA:A
            Gene:
            SLC2A12 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.013404/159 (ALFA)
            -=0.000072/2 (TOMMO)
            -=0.001133/142 (GnomAD)
            HGVS:

            6.

            rs1491351609 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CT>- [Show Flanks]
              Chromosome:
              6:134005653 (GRCh38)
              6:134326791 (GRCh37)
              Canonical SPDI:
              NC_000006.12:134005650:CTCT:CT
              Gene:
              SLC2A12 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              CTCT=0./0 (ALFA)
              HGVS:

              7.

              rs1491295775 has merged into rs59102121 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
                Chromosome:
                6:133987664 (GRCh38)
                6:134308802 (GRCh37)
                Canonical SPDI:
                NC_000006.12:133987648:TATATATATATATATATAT:TATATATATATATAT,NC_000006.12:133987648:TATATATATATATATATAT:TATATATATATATATAT,NC_000006.12:133987648:TATATATATATATATATAT:TATATATATATATATATATAT,NC_000006.12:133987648:TATATATATATATATATAT:TATATATATATATATATATATAT,NC_000006.12:133987648:TATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000006.12:133987648:TATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000006.12:133987648:TATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000006.12:133987648:TATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000006.12:133987648:TATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000006.12:133987648:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000006.12:133987648:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT,NC_000006.12:133987648:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATAT,NC_000006.12:133987648:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:133987648:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:133987648:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:133987648:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:133987648:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:133987648:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:133987648:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:133987648:TATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATAT
                Gene:
                TBPL1 (Varview), SLC2A12 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TATATATATATATATAT=0./0 (ALFA)
                -=0.1/4 (GENOME_DK)
                HGVS:
                NC_000006.12:g.133987650AT[7], NC_000006.12:g.133987650AT[8], NC_000006.12:g.133987650AT[10], NC_000006.12:g.133987650AT[11], NC_000006.12:g.133987650AT[12], NC_000006.12:g.133987650AT[13], NC_000006.12:g.133987650AT[14], NC_000006.12:g.133987650AT[15], NC_000006.12:g.133987650AT[16], NC_000006.12:g.133987650AT[17], NC_000006.12:g.133987650AT[18], NC_000006.12:g.133987650AT[19], NC_000006.12:g.133987650AT[20], NC_000006.12:g.133987650AT[21], NC_000006.12:g.133987650AT[22], NC_000006.12:g.133987650AT[23], NC_000006.12:g.133987650AT[24], NC_000006.12:g.133987650AT[25], NC_000006.12:g.133987650AT[26], NC_000006.12:g.133987650AT[27], NC_000006.11:g.134308788AT[7], NC_000006.11:g.134308788AT[8], NC_000006.11:g.134308788AT[10], NC_000006.11:g.134308788AT[11], NC_000006.11:g.134308788AT[12], NC_000006.11:g.134308788AT[13], NC_000006.11:g.134308788AT[14], NC_000006.11:g.134308788AT[15], NC_000006.11:g.134308788AT[16], NC_000006.11:g.134308788AT[17], NC_000006.11:g.134308788AT[18], NC_000006.11:g.134308788AT[19], NC_000006.11:g.134308788AT[20], NC_000006.11:g.134308788AT[21], NC_000006.11:g.134308788AT[22], NC_000006.11:g.134308788AT[23], NC_000006.11:g.134308788AT[24], NC_000006.11:g.134308788AT[25], NC_000006.11:g.134308788AT[26], NC_000006.11:g.134308788AT[27], NG_031808.2:g.40481AT[7], NG_031808.2:g.40481AT[8], NG_031808.2:g.40481AT[10], NG_031808.2:g.40481AT[11], NG_031808.2:g.40481AT[12], NG_031808.2:g.40481AT[13], NG_031808.2:g.40481AT[14], NG_031808.2:g.40481AT[15], NG_031808.2:g.40481AT[16], NG_031808.2:g.40481AT[17], NG_031808.2:g.40481AT[18], NG_031808.2:g.40481AT[19], NG_031808.2:g.40481AT[20], NG_031808.2:g.40481AT[21], NG_031808.2:g.40481AT[22], NG_031808.2:g.40481AT[23], NG_031808.2:g.40481AT[24], NG_031808.2:g.40481AT[25], NG_031808.2:g.40481AT[26], NG_031808.2:g.40481AT[27], NM_004865.4:c.*610AT[7], NM_004865.4:c.*610AT[8], NM_004865.4:c.*610AT[10], NM_004865.4:c.*610AT[11], NM_004865.4:c.*610AT[12], NM_004865.4:c.*610AT[13], NM_004865.4:c.*610AT[14], NM_004865.4:c.*610AT[15], NM_004865.4:c.*610AT[16], NM_004865.4:c.*610AT[17], NM_004865.4:c.*610AT[18], NM_004865.4:c.*610AT[19], NM_004865.4:c.*610AT[20], NM_004865.4:c.*610AT[21], NM_004865.4:c.*610AT[22], NM_004865.4:c.*610AT[23], NM_004865.4:c.*610AT[24], NM_004865.4:c.*610AT[25], NM_004865.4:c.*610AT[26], NM_004865.4:c.*610AT[27], NM_001253676.2:c.*610AT[7], NM_001253676.2:c.*610AT[8], NM_001253676.2:c.*610AT[10], NM_001253676.2:c.*610AT[11], NM_001253676.2:c.*610AT[12], NM_001253676.2:c.*610AT[13], NM_001253676.2:c.*610AT[14], NM_001253676.2:c.*610AT[15], NM_001253676.2:c.*610AT[16], NM_001253676.2:c.*610AT[17], NM_001253676.2:c.*610AT[18], NM_001253676.2:c.*610AT[19], NM_001253676.2:c.*610AT[20], NM_001253676.2:c.*610AT[21], NM_001253676.2:c.*610AT[22], NM_001253676.2:c.*610AT[23], NM_001253676.2:c.*610AT[24], NM_001253676.2:c.*610AT[25], NM_001253676.2:c.*610AT[26], NM_001253676.2:c.*610AT[27], NM_145176.3:c.*3489TA[7], NM_145176.3:c.*3489TA[8], NM_145176.3:c.*3489TA[10], NM_145176.3:c.*3489TA[11], NM_145176.3:c.*3489TA[12], NM_145176.3:c.*3489TA[13], NM_145176.3:c.*3489TA[14], NM_145176.3:c.*3489TA[15], NM_145176.3:c.*3489TA[16], NM_145176.3:c.*3489TA[17], NM_145176.3:c.*3489TA[18], NM_145176.3:c.*3489TA[19], NM_145176.3:c.*3489TA[20], NM_145176.3:c.*3489TA[21], NM_145176.3:c.*3489TA[22], NM_145176.3:c.*3489TA[23], NM_145176.3:c.*3489TA[24], NM_145176.3:c.*3489TA[25], NM_145176.3:c.*3489TA[26], NM_145176.3:c.*3489TA[27], NM_145176.2:c.*3489TA[7], NM_145176.2:c.*3489TA[8], NM_145176.2:c.*3489TA[10], NM_145176.2:c.*3489TA[11], NM_145176.2:c.*3489TA[12], NM_145176.2:c.*3489TA[13], NM_145176.2:c.*3489TA[14], NM_145176.2:c.*3489TA[15], NM_145176.2:c.*3489TA[16], NM_145176.2:c.*3489TA[17], NM_145176.2:c.*3489TA[18], NM_145176.2:c.*3489TA[19], NM_145176.2:c.*3489TA[20], NM_145176.2:c.*3489TA[21], NM_145176.2:c.*3489TA[22], NM_145176.2:c.*3489TA[23], NM_145176.2:c.*3489TA[24], NM_145176.2:c.*3489TA[25], NM_145176.2:c.*3489TA[26], NM_145176.2:c.*3489TA[27], XM_024446592.2:c.*610AT[7], XM_024446592.2:c.*610AT[8], XM_024446592.2:c.*610AT[10], XM_024446592.2:c.*610AT[11], XM_024446592.2:c.*610AT[12], XM_024446592.2:c.*610AT[13], XM_024446592.2:c.*610AT[14], XM_024446592.2:c.*610AT[15], XM_024446592.2:c.*610AT[16], XM_024446592.2:c.*610AT[17], XM_024446592.2:c.*610AT[18], XM_024446592.2:c.*610AT[19], XM_024446592.2:c.*610AT[20], XM_024446592.2:c.*610AT[21], XM_024446592.2:c.*610AT[22], XM_024446592.2:c.*610AT[23], XM_024446592.2:c.*610AT[24], XM_024446592.2:c.*610AT[25], XM_024446592.2:c.*610AT[26], XM_024446592.2:c.*610AT[27], XM_047419576.1:c.*610AT[7], XM_047419576.1:c.*610AT[8], XM_047419576.1:c.*610AT[10], XM_047419576.1:c.*610AT[11], XM_047419576.1:c.*610AT[12], XM_047419576.1:c.*610AT[13], XM_047419576.1:c.*610AT[14], XM_047419576.1:c.*610AT[15], XM_047419576.1:c.*610AT[16], XM_047419576.1:c.*610AT[17], XM_047419576.1:c.*610AT[18], XM_047419576.1:c.*610AT[19], XM_047419576.1:c.*610AT[20], XM_047419576.1:c.*610AT[21], XM_047419576.1:c.*610AT[22], XM_047419576.1:c.*610AT[23], XM_047419576.1:c.*610AT[24], XM_047419576.1:c.*610AT[25], XM_047419576.1:c.*610AT[26], XM_047419576.1:c.*610AT[27]

                8.

                rs1491277424 has merged into rs200249148 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->GTAT,GTATACATATATATATAT,GTATAT,GTATATAT,GTATATATAT,GTATATATATAT,GTATATATATATATAT,GTATATATATATATATAT,GTATATATATATATATATAT,GTATATATATATATATATATAT,GTATATATATATATATATATATAT,GTATATATATATATATATATATATAT,GTATATATATATATATATATATATATATAT,GTATATATATATATATATATATATATATATAT,GTATATATATATATATATT,GTGTAT,GTGTATAT,GTGTATATATATAT,GTGTATATATATATAT,GTGTATATATATATATATAT,GTGTATATATATATATATATAT,GTGTATATATATATATATATATAT,GTGTATATATATATATATATATATAT,GTGTATATATATATATATATATATATAT,GTGTATATATATATATATATATATATATAT,GTGTATATATATATATATATATATATATATAT,GTGTATATATATATATATATATATATATATATAT,GTGTGTAT,GTGTGTATAT,GTGTGTATATATAT,GTGTGTATATATATAT,GTGTGTATATATATATAT,GTGTGTATATATATATATAT,GTGTGTATATATATATATATAT,GTGTGTATATATATATATATATATAT,GTGTGTATATATATATATATATATATAT,GTGTGTATATATATATATATATATATATAT,GTGTGTATATATATATATATATATATATATAT,GTGTGTATATATATATATATATATATATATATAT,GTGTGTATATATATATATATATATATATATATATAT,GTGTGTATATATATATATATATATATATATATATATAT,GTGTGTATATATATATATATATATATATATATATATATAT,GTGTGTATATATATATATATATATATATATATATATATATAT,GTGTGTATATATATATATATATATATATATATATATATATATAT,GTGTGTATATATATATATATATATT,GTGTGTGTAT,GTGTGTGTATATAT,GTGTGTGTATATATAT,GTGTGTGTATATATATAT,GTGTGTGTATATATATATATAT,GTGTGTGTATATATATATATATAT,GTGTGTGTATATATATATATATATAT,GTGTGTGTATATATATATATATATATAGATATATATATATAT,GTGTGTGTATATATATATATATATATAT,GTGTGTGTATATATATATATATATATATAT,GTGTGTGTATATATATATATATATATATATAT,GTGTGTGTATATATATATATATATATATATATAT,GTGTGTGTATATATATATATATATATATATATATAT,GTGTGTGTATATATATATATATATATATATATATATAT,GTGTGTGTATATATATATATATATATATATATATATATAT,GTGTGTGTATATATATATATATATCTATATATAT,GTGTGTGTGTATATATATATATATATATATATAT,GTGTGTGTGTATATATATATATATATATATATATAT,GTGTGTGTGTATATATATATATATATATATATATATAT,GTGTGTGTGTATATATATATATATATATATATATATATAT,GTGTGTGTGTATATATATATATATATATATATATATATATATAT,GTGTGTTTATATATATATATATATATATATATATAT,TT [Show Flanks]
                  Chromosome:
                  6:133987648 (GRCh38)
                  6:134308787 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:133987648:T:TGTAT,NC_000006.12:133987648:T:TGTATACATATATATATAT,NC_000006.12:133987648:T:TGTATAT,NC_000006.12:133987648:T:TGTATATAT,NC_000006.12:133987648:T:TGTATATATAT,NC_000006.12:133987648:T:TGTATATATATAT,NC_000006.12:133987648:T:TGTATATATATATATAT,NC_000006.12:133987648:T:TGTATATATATATATATAT,NC_000006.12:133987648:T:TGTATATATATATATATATAT,NC_000006.12:133987648:T:TGTATATATATATATATATATAT,NC_000006.12:133987648:T:TGTATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTATATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTATATATATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTATATATATATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTATATATATATATATATT,NC_000006.12:133987648:T:TGTGTAT,NC_000006.12:133987648:T:TGTGTATAT,NC_000006.12:133987648:T:TGTGTATATATATAT,NC_000006.12:133987648:T:TGTGTATATATATATAT,NC_000006.12:133987648:T:TGTGTATATATATATATATAT,NC_000006.12:133987648:T:TGTGTATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTATATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTATATATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTATATATATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTATATATATATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTAT,NC_000006.12:133987648:T:TGTGTGTATAT,NC_000006.12:133987648:T:TGTGTGTATATATAT,NC_000006.12:133987648:T:TGTGTGTATATATATAT,NC_000006.12:133987648:T:TGTGTGTATATATATATAT,NC_000006.12:133987648:T:TGTGTGTATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTATATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTATATATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTATATATATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTATATATATATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTATATATATATATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTATATATATATATATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTATATATATATATATATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTATATATATATATATATATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTATATATATATATATATATT,NC_000006.12:133987648:T:TGTGTGTGTAT,NC_000006.12:133987648:T:TGTGTGTGTATATAT,NC_000006.12:133987648:T:TGTGTGTGTATATATAT,NC_000006.12:133987648:T:TGTGTGTGTATATATATAT,NC_000006.12:133987648:T:TGTGTGTGTATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTGTATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTGTATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTGTATATATATATATATATATAGATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTGTATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTGTATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTGTATATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTGTATATATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTGTATATATATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTGTATATATATATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTGTATATATATATATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTGTATATATATATATATATCTATATATAT,NC_000006.12:133987648:T:TGTGTGTGTGTATATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTGTGTATATATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTGTGTATATATATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTGTGTATATATATATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTGTGTATATATATATATATATATATATATATATATATAT,NC_000006.12:133987648:T:TGTGTGTTTATATATATATATATATATATATATATAT,NC_000006.12:133987648:T:TTT
                  Gene:
                  TBPL1 (Varview), SLC2A12 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TGTATACATATATATATAT=0./0 (ALFA)
                  HGVS:
                  NC_000006.12:g.133987649_133987650insGTAT, NC_000006.12:g.133987649_133987650insGTATACATATATATATAT, NC_000006.12:g.133987649_133987650insGTATAT, NC_000006.12:g.133987649_133987650insGTATATAT, NC_000006.12:g.133987649_133987650insGTATATATAT, NC_000006.12:g.133987649_133987650insGTATATATATAT, NC_000006.12:g.133987649_133987650insGTATATATATATATAT, NC_000006.12:g.133987649_133987650insGTATATATATATATATAT, NC_000006.12:g.133987649_133987650insGTATATATATATATATATAT, NC_000006.12:g.133987649_133987650insGTATATATATATATATATATAT, NC_000006.12:g.133987649_133987650insGTATATATATATATATATATATAT, NC_000006.12:g.133987649_133987650insGTATATATATATATATATATATATAT, NC_000006.12:g.133987649_133987650insGTATATATATATATATATATATATATATAT, NC_000006.12:g.133987649_133987650insGTATATATATATATATATATATATATATATAT, NC_000006.12:g.133987649_133987650insGTATATATATATATATATT, NC_000006.12:g.133987649TG[2]TAT[1], NC_000006.12:g.133987649TG[2]TA[2]T[1], NC_000006.12:g.133987649TG[2]TA[5]T[1], NC_000006.12:g.133987649TG[2]TA[6]T[1], NC_000006.12:g.133987649TG[2]TA[8]T[1], NC_000006.12:g.133987649TG[2]TA[9]T[1], NC_000006.12:g.133987649TG[2]TA[10]T[1], NC_000006.12:g.133987649TG[2]TA[11]T[1], NC_000006.12:g.133987649TG[2]TA[12]T[1], NC_000006.12:g.133987649TG[2]TA[13]T[1], NC_000006.12:g.133987649TG[2]TA[14]T[1], NC_000006.12:g.133987649TG[2]TA[15]T[1], NC_000006.12:g.133987649TG[3]TAT[1], NC_000006.12:g.133987649TG[3]TA[2]T[1], NC_000006.12:g.133987649TG[3]TA[4]T[1], NC_000006.12:g.133987649TG[3]TA[5]T[1], NC_000006.12:g.133987649TG[3]TA[6]T[1], NC_000006.12:g.133987649TG[3]TA[7]T[1], NC_000006.12:g.133987649TG[3]TA[8]T[1], NC_000006.12:g.133987649TG[3]TA[10]T[1], NC_000006.12:g.133987649TG[3]TA[11]T[1], NC_000006.12:g.133987649TG[3]TA[12]T[1], NC_000006.12:g.133987649TG[3]TA[13]T[1], NC_000006.12:g.133987649TG[3]TA[14]T[1], NC_000006.12:g.133987649TG[3]TA[15]T[1], NC_000006.12:g.133987649TG[3]TA[16]T[1], NC_000006.12:g.133987649TG[3]TA[17]T[1], NC_000006.12:g.133987649TG[3]TA[18]T[1], NC_000006.12:g.133987649TG[3]TA[19]T[1], NC_000006.12:g.133987649TG[3]TA[9]TT[1], NC_000006.12:g.133987649TG[4]TAT[1], NC_000006.12:g.133987649TG[4]TA[3]T[1], NC_000006.12:g.133987649TG[4]TA[4]T[1], NC_000006.12:g.133987649TG[4]TA[5]T[1], NC_000006.12:g.133987649TG[4]TA[7]T[1], NC_000006.12:g.133987649TG[4]TA[8]T[1], NC_000006.12:g.133987649TG[4]TA[9]T[1], NC_000006.12:g.133987649TG[4]TA[10]GATATATATATATAT[1], NC_000006.12:g.133987649TG[4]TA[10]T[1], NC_000006.12:g.133987649TG[4]TA[11]T[1], NC_000006.12:g.133987649TG[4]TA[12]T[1], NC_000006.12:g.133987649TG[4]TA[13]T[1], NC_000006.12:g.133987649TG[4]TA[14]T[1], NC_000006.12:g.133987649TG[4]TA[15]T[1], NC_000006.12:g.133987649TG[4]TA[16]T[1], NC_000006.12:g.133987649TG[4]TA[8]TCTATATATAT[1], NC_000006.12:g.133987649TG[5]TA[12]T[1], NC_000006.12:g.133987649TG[5]TA[13]T[1], NC_000006.12:g.133987649TG[5]TA[14]T[1], NC_000006.12:g.133987649TG[5]TA[15]T[1], NC_000006.12:g.133987649TG[5]TA[17]T[1], NC_000006.12:g.133987649TG[3]TTTATATATATATATATATATATATATATAT[1], NC_000006.12:g.133987649_133987650insTT, NC_000006.11:g.134308787_134308788insGTAT, NC_000006.11:g.134308787_134308788insGTATACATATATATATAT, NC_000006.11:g.134308787_134308788insGTATAT, NC_000006.11:g.134308787_134308788insGTATATAT, NC_000006.11:g.134308787_134308788insGTATATATAT, NC_000006.11:g.134308787_134308788insGTATATATATAT, NC_000006.11:g.134308787_134308788insGTATATATATATATAT, NC_000006.11:g.134308787_134308788insGTATATATATATATATAT, NC_000006.11:g.134308787_134308788insGTATATATATATATATATAT, NC_000006.11:g.134308787_134308788insGTATATATATATATATATATAT, NC_000006.11:g.134308787_134308788insGTATATATATATATATATATATAT, NC_000006.11:g.134308787_134308788insGTATATATATATATATATATATATAT, NC_000006.11:g.134308787_134308788insGTATATATATATATATATATATATATATAT, NC_000006.11:g.134308787_134308788insGTATATATATATATATATATATATATATATAT, NC_000006.11:g.134308787_134308788insGTATATATATATATATATT, NC_000006.11:g.134308787TG[2]TAT[1], NC_000006.11:g.134308787TG[2]TA[2]T[1], NC_000006.11:g.134308787TG[2]TA[5]T[1], NC_000006.11:g.134308787TG[2]TA[6]T[1], NC_000006.11:g.134308787TG[2]TA[8]T[1], NC_000006.11:g.134308787TG[2]TA[9]T[1], NC_000006.11:g.134308787TG[2]TA[10]T[1], NC_000006.11:g.134308787TG[2]TA[11]T[1], NC_000006.11:g.134308787TG[2]TA[12]T[1], NC_000006.11:g.134308787TG[2]TA[13]T[1], NC_000006.11:g.134308787TG[2]TA[14]T[1], NC_000006.11:g.134308787TG[2]TA[15]T[1], NC_000006.11:g.134308787TG[3]TAT[1], NC_000006.11:g.134308787TG[3]TA[2]T[1], NC_000006.11:g.134308787TG[3]TA[4]T[1], NC_000006.11:g.134308787TG[3]TA[5]T[1], NC_000006.11:g.134308787TG[3]TA[6]T[1], NC_000006.11:g.134308787TG[3]TA[7]T[1], NC_000006.11:g.134308787TG[3]TA[8]T[1], NC_000006.11:g.134308787TG[3]TA[10]T[1], NC_000006.11:g.134308787TG[3]TA[11]T[1], NC_000006.11:g.134308787TG[3]TA[12]T[1], NC_000006.11:g.134308787TG[3]TA[13]T[1], NC_000006.11:g.134308787TG[3]TA[14]T[1], NC_000006.11:g.134308787TG[3]TA[15]T[1], NC_000006.11:g.134308787TG[3]TA[16]T[1], NC_000006.11:g.134308787TG[3]TA[17]T[1], NC_000006.11:g.134308787TG[3]TA[18]T[1], NC_000006.11:g.134308787TG[3]TA[19]T[1], NC_000006.11:g.134308787TG[3]TA[9]TT[1], NC_000006.11:g.134308787TG[4]TAT[1], NC_000006.11:g.134308787TG[4]TA[3]T[1], NC_000006.11:g.134308787TG[4]TA[4]T[1], NC_000006.11:g.134308787TG[4]TA[5]T[1], NC_000006.11:g.134308787TG[4]TA[7]T[1], NC_000006.11:g.134308787TG[4]TA[8]T[1], NC_000006.11:g.134308787TG[4]TA[9]T[1], NC_000006.11:g.134308787TG[4]TA[10]GATATATATATATAT[1], NC_000006.11:g.134308787TG[4]TA[10]T[1], NC_000006.11:g.134308787TG[4]TA[11]T[1], NC_000006.11:g.134308787TG[4]TA[12]T[1], NC_000006.11:g.134308787TG[4]TA[13]T[1], NC_000006.11:g.134308787TG[4]TA[14]T[1], NC_000006.11:g.134308787TG[4]TA[15]T[1], NC_000006.11:g.134308787TG[4]TA[16]T[1], NC_000006.11:g.134308787TG[4]TA[8]TCTATATATAT[1], NC_000006.11:g.134308787TG[5]TA[12]T[1], NC_000006.11:g.134308787TG[5]TA[13]T[1], NC_000006.11:g.134308787TG[5]TA[14]T[1], NC_000006.11:g.134308787TG[5]TA[15]T[1], NC_000006.11:g.134308787TG[5]TA[17]T[1], NC_000006.11:g.134308787TG[3]TTTATATATATATATATATATATATATATAT[1], NC_000006.11:g.134308787_134308788insTT, NG_031808.2:g.40480_40481insGTAT, NG_031808.2:g.40480_40481insGTATACATATATATATAT, NG_031808.2:g.40480_40481insGTATAT, NG_031808.2:g.40480_40481insGTATATAT, NG_031808.2:g.40480_40481insGTATATATAT, NG_031808.2:g.40480_40481insGTATATATATAT, NG_031808.2:g.40480_40481insGTATATATATATATAT, NG_031808.2:g.40480_40481insGTATATATATATATATAT, NG_031808.2:g.40480_40481insGTATATATATATATATATAT, NG_031808.2:g.40480_40481insGTATATATATATATATATATAT, NG_031808.2:g.40480_40481insGTATATATATATATATATATATAT, NG_031808.2:g.40480_40481insGTATATATATATATATATATATATAT, NG_031808.2:g.40480_40481insGTATATATATATATATATATATATATATAT, NG_031808.2:g.40480_40481insGTATATATATATATATATATATATATATATAT, NG_031808.2:g.40480_40481insGTATATATATATATATATT, NG_031808.2:g.40480TG[2]TAT[1], NG_031808.2:g.40480TG[2]TA[2]T[1], NG_031808.2:g.40480TG[2]TA[5]T[1], NG_031808.2:g.40480TG[2]TA[6]T[1], NG_031808.2:g.40480TG[2]TA[8]T[1], NG_031808.2:g.40480TG[2]TA[9]T[1], NG_031808.2:g.40480TG[2]TA[10]T[1], NG_031808.2:g.40480TG[2]TA[11]T[1], NG_031808.2:g.40480TG[2]TA[12]T[1], NG_031808.2:g.40480TG[2]TA[13]T[1], NG_031808.2:g.40480TG[2]TA[14]T[1], NG_031808.2:g.40480TG[2]TA[15]T[1], NG_031808.2:g.40480TG[3]TAT[1], NG_031808.2:g.40480TG[3]TA[2]T[1], NG_031808.2:g.40480TG[3]TA[4]T[1], NG_031808.2:g.40480TG[3]TA[5]T[1], NG_031808.2:g.40480TG[3]TA[6]T[1], NG_031808.2:g.40480TG[3]TA[7]T[1], NG_031808.2:g.40480TG[3]TA[8]T[1], NG_031808.2:g.40480TG[3]TA[10]T[1], NG_031808.2:g.40480TG[3]TA[11]T[1], NG_031808.2:g.40480TG[3]TA[12]T[1], NG_031808.2:g.40480TG[3]TA[13]T[1], NG_031808.2:g.40480TG[3]TA[14]T[1], NG_031808.2:g.40480TG[3]TA[15]T[1], NG_031808.2:g.40480TG[3]TA[16]T[1], NG_031808.2:g.40480TG[3]TA[17]T[1], NG_031808.2:g.40480TG[3]TA[18]T[1], NG_031808.2:g.40480TG[3]TA[19]T[1], NG_031808.2:g.40480TG[3]TA[9]TT[1], NG_031808.2:g.40480TG[4]TAT[1], NG_031808.2:g.40480TG[4]TA[3]T[1], NG_031808.2:g.40480TG[4]TA[4]T[1], NG_031808.2:g.40480TG[4]TA[5]T[1], NG_031808.2:g.40480TG[4]TA[7]T[1], NG_031808.2:g.40480TG[4]TA[8]T[1], NG_031808.2:g.40480TG[4]TA[9]T[1], NG_031808.2:g.40480TG[4]TA[10]GATATATATATATAT[1], NG_031808.2:g.40480TG[4]TA[10]T[1], NG_031808.2:g.40480TG[4]TA[11]T[1], NG_031808.2:g.40480TG[4]TA[12]T[1], NG_031808.2:g.40480TG[4]TA[13]T[1], NG_031808.2:g.40480TG[4]TA[14]T[1], NG_031808.2:g.40480TG[4]TA[15]T[1], NG_031808.2:g.40480TG[4]TA[16]T[1], NG_031808.2:g.40480TG[4]TA[8]TCTATATATAT[1], NG_031808.2:g.40480TG[5]TA[12]T[1], NG_031808.2:g.40480TG[5]TA[13]T[1], NG_031808.2:g.40480TG[5]TA[14]T[1], NG_031808.2:g.40480TG[5]TA[15]T[1], NG_031808.2:g.40480TG[5]TA[17]T[1], NG_031808.2:g.40480TG[3]TTTATATATATATATATATATATATATATAT[1], NG_031808.2:g.40480_40481insTT, NM_004865.4:c.*609_*610insGTAT, NM_004865.4:c.*609_*610insGTATACATATATATATAT, NM_004865.4:c.*609_*610insGTATAT, NM_004865.4:c.*609_*610insGTATATAT, NM_004865.4:c.*609_*610insGTATATATAT, NM_004865.4:c.*609_*610insGTATATATATAT, NM_004865.4:c.*609_*610insGTATATATATATATAT, NM_004865.4:c.*609_*610insGTATATATATATATATAT, NM_004865.4:c.*609_*610insGTATATATATATATATATAT, NM_004865.4:c.*609_*610insGTATATATATATATATATATAT, NM_004865.4:c.*609_*610insGTATATATATATATATATATATAT, NM_004865.4:c.*609_*610insGTATATATATATATATATATATATAT, NM_004865.4:c.*609_*610insGTATATATATATATATATATATATATATAT, NM_004865.4:c.*609_*610insGTATATATATATATATATATATATATATATAT, NM_004865.4:c.*609_*610insGTATATATATATATATATT, NM_004865.4:c.*609TG[2]TAT[1], NM_004865.4:c.*609TG[2]TA[2]T[1], NM_004865.4:c.*609TG[2]TA[5]T[1], NM_004865.4:c.*609TG[2]TA[6]T[1], NM_004865.4:c.*609TG[2]TA[8]T[1], NM_004865.4:c.*609TG[2]TA[9]T[1], NM_004865.4:c.*609TG[2]TA[10]T[1], NM_004865.4:c.*609TG[2]TA[11]T[1], NM_004865.4:c.*609TG[2]TA[12]T[1], NM_004865.4:c.*609TG[2]TA[13]T[1], NM_004865.4:c.*609TG[2]TA[14]T[1], NM_004865.4:c.*609TG[2]TA[15]T[1], NM_004865.4:c.*609TG[3]TAT[1], NM_004865.4:c.*609TG[3]TA[2]T[1], NM_004865.4:c.*609TG[3]TA[4]T[1], NM_004865.4:c.*609TG[3]TA[5]T[1], NM_004865.4:c.*609TG[3]TA[6]T[1], NM_004865.4:c.*609TG[3]TA[7]T[1], NM_004865.4:c.*609TG[3]TA[8]T[1], NM_004865.4:c.*609TG[3]TA[10]T[1], NM_004865.4:c.*609TG[3]TA[11]T[1], NM_004865.4:c.*609TG[3]TA[12]T[1], NM_004865.4:c.*609TG[3]TA[13]T[1], NM_004865.4:c.*609TG[3]TA[14]T[1], NM_004865.4:c.*609TG[3]TA[15]T[1], NM_004865.4:c.*609TG[3]TA[16]T[1], NM_004865.4:c.*609TG[3]TA[17]T[1], NM_004865.4:c.*609TG[3]TA[18]T[1], NM_004865.4:c.*609TG[3]TA[19]T[1], NM_004865.4:c.*609TG[3]TA[9]TT[1], NM_004865.4:c.*609TG[4]TAT[1], NM_004865.4:c.*609TG[4]TA[3]T[1], NM_004865.4:c.*609TG[4]TA[4]T[1], NM_004865.4:c.*609TG[4]TA[5]T[1], NM_004865.4:c.*609TG[4]TA[7]T[1], NM_004865.4:c.*609TG[4]TA[8]T[1], NM_004865.4:c.*609TG[4]TA[9]T[1], NM_004865.4:c.*609TG[4]TA[10]GATATATATATATAT[1], NM_004865.4:c.*609TG[4]TA[10]T[1], NM_004865.4:c.*609TG[4]TA[11]T[1], NM_004865.4:c.*609TG[4]TA[12]T[1], NM_004865.4:c.*609TG[4]TA[13]T[1], NM_004865.4:c.*609TG[4]TA[14]T[1], NM_004865.4:c.*609TG[4]TA[15]T[1], NM_004865.4:c.*609TG[4]TA[16]T[1], NM_004865.4:c.*609TG[4]TA[8]TCTATATATAT[1], NM_004865.4:c.*609TG[5]TA[12]T[1], NM_004865.4:c.*609TG[5]TA[13]T[1], NM_004865.4:c.*609TG[5]TA[14]T[1], NM_004865.4:c.*609TG[5]TA[15]T[1], NM_004865.4:c.*609TG[5]TA[17]T[1], NM_004865.4:c.*609TG[3]TTTATATATATATATATATATATATATATAT[1], NM_004865.4:c.*609_*610insTT, NM_001253676.2:c.*609_*610insGTAT, NM_001253676.2:c.*609_*610insGTATACATATATATATAT, NM_001253676.2:c.*609_*610insGTATAT, NM_001253676.2:c.*609_*610insGTATATAT, NM_001253676.2:c.*609_*610insGTATATATAT, NM_001253676.2:c.*609_*610insGTATATATATAT, NM_001253676.2:c.*609_*610insGTATATATATATATAT, NM_001253676.2:c.*609_*610insGTATATATATATATATAT, NM_001253676.2:c.*609_*610insGTATATATATATATATATAT, NM_001253676.2:c.*609_*610insGTATATATATATATATATATAT, NM_001253676.2:c.*609_*610insGTATATATATATATATATATATAT, NM_001253676.2:c.*609_*610insGTATATATATATATATATATATATAT, NM_001253676.2:c.*609_*610insGTATATATATATATATATATATATATATAT, NM_001253676.2:c.*609_*610insGTATATATATATATATATATATATATATATAT, NM_001253676.2:c.*609_*610insGTATATATATATATATATT, NM_001253676.2:c.*609TG[2]TAT[1], NM_001253676.2:c.*609TG[2]TA[2]T[1], NM_001253676.2:c.*609TG[2]TA[5]T[1], NM_001253676.2:c.*609TG[2]TA[6]T[1], NM_001253676.2:c.*609TG[2]TA[8]T[1], NM_001253676.2:c.*609TG[2]TA[9]T[1], NM_001253676.2:c.*609TG[2]TA[10]T[1], NM_001253676.2:c.*609TG[2]TA[11]T[1], NM_001253676.2:c.*609TG[2]TA[12]T[1], NM_001253676.2:c.*609TG[2]TA[13]T[1], NM_001253676.2:c.*609TG[2]TA[14]T[1], NM_001253676.2:c.*609TG[2]TA[15]T[1], NM_001253676.2:c.*609TG[3]TAT[1], NM_001253676.2:c.*609TG[3]TA[2]T[1], NM_001253676.2:c.*609TG[3]TA[4]T[1], NM_001253676.2:c.*609TG[3]TA[5]T[1], NM_001253676.2:c.*609TG[3]TA[6]T[1], NM_001253676.2:c.*609TG[3]TA[7]T[1], NM_001253676.2:c.*609TG[3]TA[8]T[1], NM_001253676.2:c.*609TG[3]TA[10]T[1], NM_001253676.2:c.*609TG[3]TA[11]T[1], NM_001253676.2:c.*609TG[3]TA[12]T[1], NM_001253676.2:c.*609TG[3]TA[13]T[1], NM_001253676.2:c.*609TG[3]TA[14]T[1], NM_001253676.2:c.*609TG[3]TA[15]T[1], NM_001253676.2:c.*609TG[3]TA[16]T[1], NM_001253676.2:c.*609TG[3]TA[17]T[1], NM_001253676.2:c.*609TG[3]TA[18]T[1], NM_001253676.2:c.*609TG[3]TA[19]T[1], NM_001253676.2:c.*609TG[3]TA[9]TT[1], NM_001253676.2:c.*609TG[4]TAT[1], NM_001253676.2:c.*609TG[4]TA[3]T[1], NM_001253676.2:c.*609TG[4]TA[4]T[1], NM_001253676.2:c.*609TG[4]TA[5]T[1], NM_001253676.2:c.*609TG[4]TA[7]T[1], NM_001253676.2:c.*609TG[4]TA[8]T[1], NM_001253676.2:c.*609TG[4]TA[9]T[1], NM_001253676.2:c.*609TG[4]TA[10]GATATATATATATAT[1], NM_001253676.2:c.*609TG[4]TA[10]T[1], NM_001253676.2:c.*609TG[4]TA[11]T[1], NM_001253676.2:c.*609TG[4]TA[12]T[1], NM_001253676.2:c.*609TG[4]TA[13]T[1], NM_001253676.2:c.*609TG[4]TA[14]T[1], NM_001253676.2:c.*609TG[4]TA[15]T[1], NM_001253676.2:c.*609TG[4]TA[16]T[1], NM_001253676.2:c.*609TG[4]TA[8]TCTATATATAT[1], NM_001253676.2:c.*609TG[5]TA[12]T[1], NM_001253676.2:c.*609TG[5]TA[13]T[1], NM_001253676.2:c.*609TG[5]TA[14]T[1], NM_001253676.2:c.*609TG[5]TA[15]T[1], NM_001253676.2:c.*609TG[5]TA[17]T[1], NM_001253676.2:c.*609TG[3]TTTATATATATATATATATATATATATATAT[1], NM_001253676.2:c.*609_*610insTT, NM_145176.3:c.*3506_*3507insTACA, NM_145176.3:c.*3506AT[6]GTATACA[1], NM_145176.3:c.*3506AT[2]ACA[1], NM_145176.3:c.*3506AT[3]ACA[1], NM_145176.3:c.*3506AT[4]ACA[1], NM_145176.3:c.*3506AT[5]ACA[1], NM_145176.3:c.*3506AT[7]ACA[1], NM_145176.3:c.*3506AT[8]ACA[1], NM_145176.3:c.*3506AT[9]ACA[1], NM_145176.3:c.*3506AT[10]ACA[1], NM_145176.3:c.*3506AT[11]ACA[1], NM_145176.3:c.*3506AT[12]ACA[1], NM_145176.3:c.*3506AT[14]ACA[1], NM_145176.3:c.*3506AT[15]ACA[1], NM_145176.3:c.*3506_*3507insATATATATATATATATACA, NM_145176.3:c.*3506_*3507insTACACA, NM_145176.3:c.*3506AT[2]AC[2]A[1], NM_145176.3:c.*3506AT[5]AC[2]A[1], NM_145176.3:c.*3506AT[6]AC[2]A[1], NM_145176.3:c.*3506AT[8]AC[2]A[1], NM_145176.3:c.*3506AT[9]AC[2]A[1], NM_145176.3:c.*3506AT[10]AC[2]A[1], NM_145176.3:c.*3506AT[11]AC[2]A[1], NM_145176.3:c.*3506AT[12]AC[2]A[1], NM_145176.3:c.*3506AT[13]AC[2]A[1], NM_145176.3:c.*3506AT[14]AC[2]A[1], NM_145176.3:c.*3506AT[15]AC[2]A[1], NM_145176.3:c.*3506_*3507insTACACACA, NM_145176.3:c.*3506AT[2]AC[3]A[1], NM_145176.3:c.*3506AT[4]AC[3]A[1], NM_145176.3:c.*3506AT[5]AC[3]A[1], NM_145176.3:c.*3506AT[6]AC[3]A[1], NM_145176.3:c.*3506AT[7]AC[3]A[1], NM_145176.3:c.*3506AT[8]AC[3]A[1], NM_145176.3:c.*3506AT[10]AC[3]A[1], NM_145176.3:c.*3506AT[11]AC[3]A[1], NM_145176.3:c.*3506AT[12]AC[3]A[1], NM_145176.3:c.*3506AT[13]AC[3]A[1], NM_145176.3:c.*3506AT[14]AC[3]A[1], NM_145176.3:c.*3506AT[15]AC[3]A[1], NM_145176.3:c.*3506AT[16]AC[3]A[1], NM_145176.3:c.*3506AT[17]AC[3]A[1], NM_145176.3:c.*3506AT[18]AC[3]A[1], NM_145176.3:c.*3506AT[19]AC[3]A[1], NM_145176.3:c.*3506_*3507insATATATATATATATATATACACACA, NM_145176.3:c.*3506_*3507insTACACACACA, NM_145176.3:c.*3506AT[3]AC[4]A[1], NM_145176.3:c.*3506AT[4]AC[4]A[1], NM_145176.3:c.*3506AT[5]AC[4]A[1], NM_145176.3:c.*3506AT[7]AC[4]A[1], NM_145176.3:c.*3506AT[8]AC[4]A[1], NM_145176.3:c.*3506AT[9]AC[4]A[1], NM_145176.3:c.*3506AT[7]CTATATATATATATATATATACACACACA[1], NM_145176.3:c.*3506AT[10]AC[4]A[1], NM_145176.3:c.*3506AT[11]AC[4]A[1], NM_145176.3:c.*3506AT[12]AC[4]A[1], NM_145176.3:c.*3506AT[13]AC[4]A[1], NM_145176.3:c.*3506AT[14]AC[4]A[1], NM_145176.3:c.*3506AT[15]AC[4]A[1], NM_145176.3:c.*3506AT[16]AC[4]A[1], NM_145176.3:c.*3506AT[4]AGATATATATATATATATACACACACA[1], NM_145176.3:c.*3506AT[12]AC[5]A[1], NM_145176.3:c.*3506AT[13]AC[5]A[1], NM_145176.3:c.*3506AT[14]AC[5]A[1], NM_145176.3:c.*3506AT[15]AC[5]A[1], NM_145176.3:c.*3506AT[17]AC[5]A[1], NM_145176.3:c.*3506AT[14]AAACACACA[1], NM_145176.3:c.*3506_*3507insAA, NM_145176.2:c.*3506_*3507insTACA, NM_145176.2:c.*3506AT[6]GTATACA[1], NM_145176.2:c.*3506AT[2]ACA[1], NM_145176.2:c.*3506AT[3]ACA[1], NM_145176.2:c.*3506AT[4]ACA[1], NM_145176.2:c.*3506AT[5]ACA[1], NM_145176.2:c.*3506AT[7]ACA[1], NM_145176.2:c.*3506AT[8]ACA[1], NM_145176.2:c.*3506AT[9]ACA[1], NM_145176.2:c.*3506AT[10]ACA[1], NM_145176.2:c.*3506AT[11]ACA[1], NM_145176.2:c.*3506AT[12]ACA[1], NM_145176.2:c.*3506AT[14]ACA[1], NM_145176.2:c.*3506AT[15]ACA[1], NM_145176.2:c.*3506_*3507insATATATATATATATATACA, NM_145176.2:c.*3506_*3507insTACACA, NM_145176.2:c.*3506AT[2]AC[2]A[1], NM_145176.2:c.*3506AT[5]AC[2]A[1], NM_145176.2:c.*3506AT[6]AC[2]A[1], NM_145176.2:c.*3506AT[8]AC[2]A[1], NM_145176.2:c.*3506AT[9]AC[2]A[1], NM_145176.2:c.*3506AT[10]AC[2]A[1], NM_145176.2:c.*3506AT[11]AC[2]A[1], NM_145176.2:c.*3506AT[12]AC[2]A[1], NM_145176.2:c.*3506AT[13]AC[2]A[1], NM_145176.2:c.*3506AT[14]AC[2]A[1], NM_145176.2:c.*3506AT[15]AC[2]A[1], NM_145176.2:c.*3506_*3507insTACACACA, NM_145176.2:c.*3506AT[2]AC[3]A[1], NM_145176.2:c.*3506AT[4]AC[3]A[1], NM_145176.2:c.*3506AT[5]AC[3]A[1], NM_145176.2:c.*3506AT[6]AC[3]A[1], NM_145176.2:c.*3506AT[7]AC[3]A[1], NM_145176.2:c.*3506AT[8]AC[3]A[1], NM_145176.2:c.*3506AT[10]AC[3]A[1], NM_145176.2:c.*3506AT[11]AC[3]A[1], NM_145176.2:c.*3506AT[12]AC[3]A[1], NM_145176.2:c.*3506AT[13]AC[3]A[1], NM_145176.2:c.*3506AT[14]AC[3]A[1], NM_145176.2:c.*3506AT[15]AC[3]A[1], NM_145176.2:c.*3506AT[16]AC[3]A[1], NM_145176.2:c.*3506AT[17]AC[3]A[1], NM_145176.2:c.*3506AT[18]AC[3]A[1], NM_145176.2:c.*3506AT[19]AC[3]A[1], NM_145176.2:c.*3506_*3507insATATATATATATATATATACACACA, NM_145176.2:c.*3506_*3507insTACACACACA, NM_145176.2:c.*3506AT[3]AC[4]A[1], NM_145176.2:c.*3506AT[4]AC[4]A[1], NM_145176.2:c.*3506AT[5]AC[4]A[1], NM_145176.2:c.*3506AT[7]AC[4]A[1], NM_145176.2:c.*3506AT[8]AC[4]A[1], NM_145176.2:c.*3506AT[9]AC[4]A[1], NM_145176.2:c.*3506AT[7]CTATATATATATATATATATACACACACA[1], NM_145176.2:c.*3506AT[10]AC[4]A[1], NM_145176.2:c.*3506AT[11]AC[4]A[1], NM_145176.2:c.*3506AT[12]AC[4]A[1], NM_145176.2:c.*3506AT[13]AC[4]A[1], NM_145176.2:c.*3506AT[14]AC[4]A[1], NM_145176.2:c.*3506AT[15]AC[4]A[1], NM_145176.2:c.*3506AT[16]AC[4]A[1], NM_145176.2:c.*3506AT[4]AGATATATATATATATATACACACACA[1], NM_145176.2:c.*3506AT[12]AC[5]A[1], NM_145176.2:c.*3506AT[13]AC[5]A[1], NM_145176.2:c.*3506AT[14]AC[5]A[1], NM_145176.2:c.*3506AT[15]AC[5]A[1], NM_145176.2:c.*3506AT[17]AC[5]A[1], NM_145176.2:c.*3506AT[14]AAACACACA[1], NM_145176.2:c.*3506_*3507insAA, XM_024446592.2:c.*609_*610insGTAT, XM_024446592.2:c.*609_*610insGTATACATATATATATAT, XM_024446592.2:c.*609_*610insGTATAT, XM_024446592.2:c.*609_*610insGTATATAT, XM_024446592.2:c.*609_*610insGTATATATAT, XM_024446592.2:c.*609_*610insGTATATATATAT, XM_024446592.2:c.*609_*610insGTATATATATATATAT, XM_024446592.2:c.*609_*610insGTATATATATATATATAT, XM_024446592.2:c.*609_*610insGTATATATATATATATATAT, XM_024446592.2:c.*609_*610insGTATATATATATATATATATAT, XM_024446592.2:c.*609_*610insGTATATATATATATATATATATAT, XM_024446592.2:c.*609_*610insGTATATATATATATATATATATATAT, XM_024446592.2:c.*609_*610insGTATATATATATATATATATATATATATAT, XM_024446592.2:c.*609_*610insGTATATATATATATATATATATATATATATAT, XM_024446592.2:c.*609_*610insGTATATATATATATATATT, XM_024446592.2:c.*609TG[2]TAT[1], XM_024446592.2:c.*609TG[2]TA[2]T[1], XM_024446592.2:c.*609TG[2]TA[5]T[1], XM_024446592.2:c.*609TG[2]TA[6]T[1], XM_024446592.2:c.*609TG[2]TA[8]T[1], XM_024446592.2:c.*609TG[2]TA[9]T[1], XM_024446592.2:c.*609TG[2]TA[10]T[1], XM_024446592.2:c.*609TG[2]TA[11]T[1], XM_024446592.2:c.*609TG[2]TA[12]T[1], XM_024446592.2:c.*609TG[2]TA[13]T[1], XM_024446592.2:c.*609TG[2]TA[14]T[1], XM_024446592.2:c.*609TG[2]TA[15]T[1], XM_024446592.2:c.*609TG[3]TAT[1], XM_024446592.2:c.*609TG[3]TA[2]T[1], XM_024446592.2:c.*609TG[3]TA[4]T[1], XM_024446592.2:c.*609TG[3]TA[5]T[1], XM_024446592.2:c.*609TG[3]TA[6]T[1], XM_024446592.2:c.*609TG[3]TA[7]T[1], XM_024446592.2:c.*609TG[3]TA[8]T[1], XM_024446592.2:c.*609TG[3]TA[10]T[1], XM_024446592.2:c.*609TG[3]TA[11]T[1], XM_024446592.2:c.*609TG[3]TA[12]T[1], XM_024446592.2:c.*609TG[3]TA[13]T[1], XM_024446592.2:c.*609TG[3]TA[14]T[1], XM_024446592.2:c.*609TG[3]TA[15]T[1], XM_024446592.2:c.*609TG[3]TA[16]T[1], XM_024446592.2:c.*609TG[3]TA[17]T[1], XM_024446592.2:c.*609TG[3]TA[18]T[1], XM_024446592.2:c.*609TG[3]TA[19]T[1], XM_024446592.2:c.*609TG[3]TA[9]TT[1], XM_024446592.2:c.*609TG[4]TAT[1], XM_024446592.2:c.*609TG[4]TA[3]T[1], XM_024446592.2:c.*609TG[4]TA[4]T[1], XM_024446592.2:c.*609TG[4]TA[5]T[1], XM_024446592.2:c.*609TG[4]TA[7]T[1], XM_024446592.2:c.*609TG[4]TA[8]T[1], XM_024446592.2:c.*609TG[4]TA[9]T[1], XM_024446592.2:c.*609TG[4]TA[10]GATATATATATATAT[1], XM_024446592.2:c.*609TG[4]TA[10]T[1], XM_024446592.2:c.*609TG[4]TA[11]T[1], XM_024446592.2:c.*609TG[4]TA[12]T[1], XM_024446592.2:c.*609TG[4]TA[13]T[1], XM_024446592.2:c.*609TG[4]TA[14]T[1], XM_024446592.2:c.*609TG[4]TA[15]T[1], XM_024446592.2:c.*609TG[4]TA[16]T[1], XM_024446592.2:c.*609TG[4]TA[8]TCTATATATAT[1], XM_024446592.2:c.*609TG[5]TA[12]T[1], XM_024446592.2:c.*609TG[5]TA[13]T[1], XM_024446592.2:c.*609TG[5]TA[14]T[1], XM_024446592.2:c.*609TG[5]TA[15]T[1], XM_024446592.2:c.*609TG[5]TA[17]T[1], XM_024446592.2:c.*609TG[3]TTTATATATATATATATATATATATATATAT[1], XM_024446592.2:c.*609_*610insTT, XM_047419576.1:c.*609_*610insGTAT, XM_047419576.1:c.*609_*610insGTATACATATATATATAT, XM_047419576.1:c.*609_*610insGTATAT, XM_047419576.1:c.*609_*610insGTATATAT, XM_047419576.1:c.*609_*610insGTATATATAT, XM_047419576.1:c.*609_*610insGTATATATATAT, XM_047419576.1:c.*609_*610insGTATATATATATATAT, XM_047419576.1:c.*609_*610insGTATATATATATATATAT, XM_047419576.1:c.*609_*610insGTATATATATATATATATAT, XM_047419576.1:c.*609_*610insGTATATATATATATATATATAT, XM_047419576.1:c.*609_*610insGTATATATATATATATATATATAT, XM_047419576.1:c.*609_*610insGTATATATATATATATATATATATAT, XM_047419576.1:c.*609_*610insGTATATATATATATATATATATATATATAT, XM_047419576.1:c.*609_*610insGTATATATATATATATATATATATATATATAT, XM_047419576.1:c.*609_*610insGTATATATATATATATATT, XM_047419576.1:c.*609TG[2]TAT[1], XM_047419576.1:c.*609TG[2]TA[2]T[1], XM_047419576.1:c.*609TG[2]TA[5]T[1], XM_047419576.1:c.*609TG[2]TA[6]T[1], XM_047419576.1:c.*609TG[2]TA[8]T[1], XM_047419576.1:c.*609TG[2]TA[9]T[1], XM_047419576.1:c.*609TG[2]TA[10]T[1], XM_047419576.1:c.*609TG[2]TA[11]T[1], XM_047419576.1:c.*609TG[2]TA[12]T[1], XM_047419576.1:c.*609TG[2]TA[13]T[1], XM_047419576.1:c.*609TG[2]TA[14]T[1], XM_047419576.1:c.*609TG[2]TA[15]T[1], XM_047419576.1:c.*609TG[3]TAT[1], XM_047419576.1:c.*609TG[3]TA[2]T[1], XM_047419576.1:c.*609TG[3]TA[4]T[1], XM_047419576.1:c.*609TG[3]TA[5]T[1], XM_047419576.1:c.*609TG[3]TA[6]T[1], XM_047419576.1:c.*609TG[3]TA[7]T[1], XM_047419576.1:c.*609TG[3]TA[8]T[1], XM_047419576.1:c.*609TG[3]TA[10]T[1], XM_047419576.1:c.*609TG[3]TA[11]T[1], XM_047419576.1:c.*609TG[3]TA[12]T[1], XM_047419576.1:c.*609TG[3]TA[13]T[1], XM_047419576.1:c.*609TG[3]TA[14]T[1], XM_047419576.1:c.*609TG[3]TA[15]T[1], XM_047419576.1:c.*609TG[3]TA[16]T[1], XM_047419576.1:c.*609TG[3]TA[17]T[1], XM_047419576.1:c.*609TG[3]TA[18]T[1], XM_047419576.1:c.*609TG[3]TA[19]T[1], XM_047419576.1:c.*609TG[3]TA[9]TT[1], XM_047419576.1:c.*609TG[4]TAT[1], XM_047419576.1:c.*609TG[4]TA[3]T[1], XM_047419576.1:c.*609TG[4]TA[4]T[1], XM_047419576.1:c.*609TG[4]TA[5]T[1], XM_047419576.1:c.*609TG[4]TA[7]T[1], XM_047419576.1:c.*609TG[4]TA[8]T[1], XM_047419576.1:c.*609TG[4]TA[9]T[1], XM_047419576.1:c.*609TG[4]TA[10]GATATATATATATAT[1], XM_047419576.1:c.*609TG[4]TA[10]T[1], XM_047419576.1:c.*609TG[4]TA[11]T[1], XM_047419576.1:c.*609TG[4]TA[12]T[1], XM_047419576.1:c.*609TG[4]TA[13]T[1], XM_047419576.1:c.*609TG[4]TA[14]T[1], XM_047419576.1:c.*609TG[4]TA[15]T[1], XM_047419576.1:c.*609TG[4]TA[16]T[1], XM_047419576.1:c.*609TG[4]TA[8]TCTATATATAT[1], XM_047419576.1:c.*609TG[5]TA[12]T[1], XM_047419576.1:c.*609TG[5]TA[13]T[1], XM_047419576.1:c.*609TG[5]TA[14]T[1], XM_047419576.1:c.*609TG[5]TA[15]T[1], XM_047419576.1:c.*609TG[5]TA[17]T[1], XM_047419576.1:c.*609TG[3]TTTATATATATATATATATATATATATATAT[1], XM_047419576.1:c.*609_*610insTT

                  9.

                  rs1491250738 has merged into rs1224295083 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ATATATATATAT>-,ATATATAT,ATATATATAT,ATATATATATATAT [Show Flanks]
                    Chromosome:
                    6:134032454 (GRCh38)
                    6:134353592 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:134032449:ATATATATATATATAT:ATAT,NC_000006.12:134032449:ATATATATATATATAT:ATATATATATAT,NC_000006.12:134032449:ATATATATATATATAT:ATATATATATATAT,NC_000006.12:134032449:ATATATATATATATAT:ATATATATATATATATAT
                    Gene:
                    SLC2A12 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    ATATATATATATAT=0./0 (ALFA)
                    HGVS:

                    10.

                    rs1491217774 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->C [Show Flanks]
                      Chromosome:
                      6:134052304 (GRCh38)
                      6:134373443 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:134052304::C
                      Gene:
                      SLC2A12 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.0004/2 (Estonian)
                      HGVS:

                      11.

                      rs1491205261 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        AA>- [Show Flanks]
                        Chromosome:
                        6:134052304 (GRCh38)
                        6:134373442 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:134052303:AA:
                        Gene:
                        SLC2A12 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0.00007/1 (ALFA)
                        -=0.00003/3 (GnomAD)
                        HGVS:

                        12.

                        rs1491198648 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->A,AA,AAA,ATA [Show Flanks]
                          Chromosome:
                          6:134032465 (GRCh38)
                          6:134353604 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:134032465::A,NC_000006.12:134032465::AA,NC_000006.12:134032465::AAA,NC_000006.12:134032465::ATA
                          Gene:
                          SLC2A12 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          A=0.00006/1 (TOMMO)
                          HGVS:

                          13.

                          rs1491172173 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->TT,TTGTTCTGTTTCACTGCT [Show Flanks]
                            Chromosome:
                            6:134032450 (GRCh38)
                            6:134353589 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:134032450:T:TTT,NC_000006.12:134032450:T:TTTGTTCTGTTTCACTGCT
                            Gene:
                            SLC2A12 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTTGTTCTGTTTCACTGCT=0./0 (ALFA)
                            HGVS:

                            14.

                            rs1491028090 has merged into rs56710009 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AAAAAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                              Chromosome:
                              6:134005671 (GRCh38)
                              6:134326809 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:134005659:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                              Gene:
                              SLC2A12 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAAAAAAAAAA=0./0 (ALFA)
                              AAAAAAAAAAAAAAAAA=0./0 (GENOME_DK)
                              -=0.109/59 (NorthernSweden)
                              HGVS:
                              NC_000006.12:g.134005671_134005693del, NC_000006.12:g.134005672_134005693del, NC_000006.12:g.134005673_134005693del, NC_000006.12:g.134005674_134005693del, NC_000006.12:g.134005675_134005693del, NC_000006.12:g.134005676_134005693del, NC_000006.12:g.134005677_134005693del, NC_000006.12:g.134005678_134005693del, NC_000006.12:g.134005679_134005693del, NC_000006.12:g.134005680_134005693del, NC_000006.12:g.134005681_134005693del, NC_000006.12:g.134005682_134005693del, NC_000006.12:g.134005683_134005693del, NC_000006.12:g.134005684_134005693del, NC_000006.12:g.134005685_134005693del, NC_000006.12:g.134005686_134005693del, NC_000006.12:g.134005687_134005693del, NC_000006.12:g.134005688_134005693del, NC_000006.12:g.134005689_134005693del, NC_000006.12:g.134005690_134005693del, NC_000006.12:g.134005691_134005693del, NC_000006.12:g.134005692_134005693del, NC_000006.12:g.134005693del, NC_000006.12:g.134005693dup, NC_000006.12:g.134005692_134005693dup, NC_000006.12:g.134005691_134005693dup, NC_000006.12:g.134005690_134005693dup, NC_000006.12:g.134005689_134005693dup, NC_000006.12:g.134005688_134005693dup, NC_000006.12:g.134005687_134005693dup, NC_000006.12:g.134005686_134005693dup, NC_000006.12:g.134005685_134005693dup, NC_000006.12:g.134005684_134005693dup, NC_000006.12:g.134005683_134005693dup, NC_000006.12:g.134005682_134005693dup, NC_000006.12:g.134005681_134005693dup, NC_000006.12:g.134005680_134005693dup, NC_000006.12:g.134005678_134005693dup, NC_000006.12:g.134005677_134005693dup, NC_000006.12:g.134005669_134005693dup, NC_000006.11:g.134326809_134326831del, NC_000006.11:g.134326810_134326831del, NC_000006.11:g.134326811_134326831del, NC_000006.11:g.134326812_134326831del, NC_000006.11:g.134326813_134326831del, NC_000006.11:g.134326814_134326831del, NC_000006.11:g.134326815_134326831del, NC_000006.11:g.134326816_134326831del, NC_000006.11:g.134326817_134326831del, NC_000006.11:g.134326818_134326831del, NC_000006.11:g.134326819_134326831del, NC_000006.11:g.134326820_134326831del, NC_000006.11:g.134326821_134326831del, NC_000006.11:g.134326822_134326831del, NC_000006.11:g.134326823_134326831del, NC_000006.11:g.134326824_134326831del, NC_000006.11:g.134326825_134326831del, NC_000006.11:g.134326826_134326831del, NC_000006.11:g.134326827_134326831del, NC_000006.11:g.134326828_134326831del, NC_000006.11:g.134326829_134326831del, NC_000006.11:g.134326830_134326831del, NC_000006.11:g.134326831del, NC_000006.11:g.134326831dup, NC_000006.11:g.134326830_134326831dup, NC_000006.11:g.134326829_134326831dup, NC_000006.11:g.134326828_134326831dup, NC_000006.11:g.134326827_134326831dup, NC_000006.11:g.134326826_134326831dup, NC_000006.11:g.134326825_134326831dup, NC_000006.11:g.134326824_134326831dup, NC_000006.11:g.134326823_134326831dup, NC_000006.11:g.134326822_134326831dup, NC_000006.11:g.134326821_134326831dup, NC_000006.11:g.134326820_134326831dup, NC_000006.11:g.134326819_134326831dup, NC_000006.11:g.134326818_134326831dup, NC_000006.11:g.134326816_134326831dup, NC_000006.11:g.134326815_134326831dup, NC_000006.11:g.134326807_134326831dup

                              15.

                              rs1491018751 has merged into rs200450696 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                GAGA>-,GA,GAGAGA,GAGAGAGA [Show Flanks]
                                Chromosome:
                                6:134041503 (GRCh38)
                                6:134362641 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:134041491:AGAGAGAGAGAGAGA:AGAGAGAGAGA,NC_000006.12:134041491:AGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000006.12:134041491:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000006.12:134041491:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA
                                Gene:
                                SLC2A12 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AGAGAGAGAGAGA=0./0 (ALFA)
                                AG=0.00007/2 (TOMMO)
                                HGVS:

                                16.

                                rs1490908391 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  C>- [Show Flanks]
                                  Chromosome:
                                  6:134018541 (GRCh38)
                                  6:134339679 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:134018540:CCCCC:CCCC
                                  Gene:
                                  SLC2A12 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  CCCC=0./0 (ALFA)
                                  -=0.000011/3 (TOPMED)
                                  -=0.000014/2 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1490826977 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    6:134010266 (GRCh38)
                                    6:134331404 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:134010265:C:A
                                    Gene:
                                    SLC2A12 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000011/3 (TOPMED)
                                    A=0.000036/5 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1490803477 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      CAAC>- [Show Flanks]
                                      Chromosome:
                                      6:133994759 (GRCh38)
                                      6:134315897 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:133994758:CAAC:
                                      Gene:
                                      SLC2A12 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      -=0./0 (ALFA)
                                      -=0.000008/2 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1490776878 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        T>- [Show Flanks]
                                        Chromosome:
                                        6:134009182 (GRCh38)
                                        6:134330320 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:134009181:T:
                                        Gene:
                                        SLC2A12 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1490635174 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          G>- [Show Flanks]
                                          Chromosome:
                                          6:133987626 (GRCh38)
                                          6:134308764 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:133987625:G:
                                          Gene:
                                          TBPL1 (Varview), SLC2A12 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          -=0./0 (ALFA)
                                          -=0.00003/1 (GnomAD)
                                          -=0.00839/5 (NorthernSweden)
                                          HGVS:

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