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Links from Nucleotide

Items: 1 to 20 of 14756

1.

rs1491569528 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    9:34519869 (GRCh38)
    9:34519867 (GRCh37)
    Canonical SPDI:
    NC_000009.12:34519868:CT:
    Gene:
    DNAI1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency
    MAF:
    -=0.000007/1 (GnomAD)
    HGVS:

    2.

    rs1491405052 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      ->GAGCA
      Chromosome:
      no mapping
      Canonical SPDI:

      3.

      rs1491328803 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->GAT [Show Flanks]
        Chromosome:
        9:34492494 (GRCh38)
        9:34492493 (GRCh37)
        Canonical SPDI:
        NC_000009.12:34492494::GAT
        Gene:
        DNAI1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        GAT=0.00008/1 (ALFA)
        GAT=0.00012/1 (GnomAD)
        HGVS:

        4.

        rs1491287444 has merged into rs752863173 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ATATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
          Chromosome:
          9:34492504 (GRCh38)
          9:34492502 (GRCh37)
          Canonical SPDI:
          NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:34492493:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
          Gene:
          DNAI1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          ATATATATAT=0./0 (ALFA)
          HGVS:
          NC_000009.12:g.34492494AT[5], NC_000009.12:g.34492494AT[6], NC_000009.12:g.34492494AT[7], NC_000009.12:g.34492494AT[8], NC_000009.12:g.34492494AT[9], NC_000009.12:g.34492494AT[10], NC_000009.12:g.34492494AT[11], NC_000009.12:g.34492494AT[12], NC_000009.12:g.34492494AT[13], NC_000009.12:g.34492494AT[14], NC_000009.12:g.34492494AT[15], NC_000009.12:g.34492494AT[16], NC_000009.12:g.34492494AT[17], NC_000009.12:g.34492494AT[18], NC_000009.12:g.34492494AT[19], NC_000009.12:g.34492494AT[20], NC_000009.12:g.34492494AT[22], NC_000009.12:g.34492494AT[23], NC_000009.12:g.34492494AT[24], NC_000009.12:g.34492494AT[25], NC_000009.12:g.34492494AT[26], NC_000009.12:g.34492494AT[27], NC_000009.12:g.34492494AT[28], NC_000009.12:g.34492494AT[29], NC_000009.12:g.34492494AT[30], NC_000009.12:g.34492494AT[31], NC_000009.12:g.34492494AT[32], NC_000009.12:g.34492494AT[33], NC_000009.12:g.34492494AT[34], NC_000009.12:g.34492494AT[35], NC_000009.12:g.34492494AT[36], NC_000009.12:g.34492494AT[37], NC_000009.11:g.34492492AT[5], NC_000009.11:g.34492492AT[6], NC_000009.11:g.34492492AT[7], NC_000009.11:g.34492492AT[8], NC_000009.11:g.34492492AT[9], NC_000009.11:g.34492492AT[10], NC_000009.11:g.34492492AT[11], NC_000009.11:g.34492492AT[12], NC_000009.11:g.34492492AT[13], NC_000009.11:g.34492492AT[14], NC_000009.11:g.34492492AT[15], NC_000009.11:g.34492492AT[16], NC_000009.11:g.34492492AT[17], NC_000009.11:g.34492492AT[18], NC_000009.11:g.34492492AT[19], NC_000009.11:g.34492492AT[20], NC_000009.11:g.34492492AT[22], NC_000009.11:g.34492492AT[23], NC_000009.11:g.34492492AT[24], NC_000009.11:g.34492492AT[25], NC_000009.11:g.34492492AT[26], NC_000009.11:g.34492492AT[27], NC_000009.11:g.34492492AT[28], NC_000009.11:g.34492492AT[29], NC_000009.11:g.34492492AT[30], NC_000009.11:g.34492492AT[31], NC_000009.11:g.34492492AT[32], NC_000009.11:g.34492492AT[33], NC_000009.11:g.34492492AT[34], NC_000009.11:g.34492492AT[35], NC_000009.11:g.34492492AT[36], NC_000009.11:g.34492492AT[37], NG_008127.1:g.38682AT[5], NG_008127.1:g.38682AT[6], NG_008127.1:g.38682AT[7], NG_008127.1:g.38682AT[8], NG_008127.1:g.38682AT[9], NG_008127.1:g.38682AT[10], NG_008127.1:g.38682AT[11], NG_008127.1:g.38682AT[12], NG_008127.1:g.38682AT[13], NG_008127.1:g.38682AT[14], NG_008127.1:g.38682AT[15], NG_008127.1:g.38682AT[16], NG_008127.1:g.38682AT[17], NG_008127.1:g.38682AT[18], NG_008127.1:g.38682AT[19], NG_008127.1:g.38682AT[20], NG_008127.1:g.38682AT[22], NG_008127.1:g.38682AT[23], NG_008127.1:g.38682AT[24], NG_008127.1:g.38682AT[25], NG_008127.1:g.38682AT[26], NG_008127.1:g.38682AT[27], NG_008127.1:g.38682AT[28], NG_008127.1:g.38682AT[29], NG_008127.1:g.38682AT[30], NG_008127.1:g.38682AT[31], NG_008127.1:g.38682AT[32], NG_008127.1:g.38682AT[33], NG_008127.1:g.38682AT[34], NG_008127.1:g.38682AT[35], NG_008127.1:g.38682AT[36], NG_008127.1:g.38682AT[37]

          5.

          rs1491262379 has merged into rs74180566 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            9:34477934 (GRCh38)
            9:34477932 (GRCh37)
            Canonical SPDI:
            NC_000009.12:34477924:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:34477924:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:34477924:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:34477924:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:34477924:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:34477924:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:34477924:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:34477924:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:34477924:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:34477924:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:34477924:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:34477924:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:34477924:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:34477924:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:34477924:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:34477924:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:34477924:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            DNAI1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTT=0./0 (ALFA)
            -=0.000011/3 (TOPMED)
            HGVS:
            NC_000009.12:g.34477934_34477949del, NC_000009.12:g.34477937_34477949del, NC_000009.12:g.34477938_34477949del, NC_000009.12:g.34477942_34477949del, NC_000009.12:g.34477943_34477949del, NC_000009.12:g.34477944_34477949del, NC_000009.12:g.34477945_34477949del, NC_000009.12:g.34477946_34477949del, NC_000009.12:g.34477947_34477949del, NC_000009.12:g.34477948_34477949del, NC_000009.12:g.34477949del, NC_000009.12:g.34477949dup, NC_000009.12:g.34477948_34477949dup, NC_000009.12:g.34477947_34477949dup, NC_000009.12:g.34477946_34477949dup, NC_000009.12:g.34477945_34477949dup, NC_000009.12:g.34477940_34477949dup, NC_000009.11:g.34477932_34477947del, NC_000009.11:g.34477935_34477947del, NC_000009.11:g.34477936_34477947del, NC_000009.11:g.34477940_34477947del, NC_000009.11:g.34477941_34477947del, NC_000009.11:g.34477942_34477947del, NC_000009.11:g.34477943_34477947del, NC_000009.11:g.34477944_34477947del, NC_000009.11:g.34477945_34477947del, NC_000009.11:g.34477946_34477947del, NC_000009.11:g.34477947del, NC_000009.11:g.34477947dup, NC_000009.11:g.34477946_34477947dup, NC_000009.11:g.34477945_34477947dup, NC_000009.11:g.34477944_34477947dup, NC_000009.11:g.34477943_34477947dup, NC_000009.11:g.34477938_34477947dup, NG_008127.1:g.24122_24137del, NG_008127.1:g.24125_24137del, NG_008127.1:g.24126_24137del, NG_008127.1:g.24130_24137del, NG_008127.1:g.24131_24137del, NG_008127.1:g.24132_24137del, NG_008127.1:g.24133_24137del, NG_008127.1:g.24134_24137del, NG_008127.1:g.24135_24137del, NG_008127.1:g.24136_24137del, NG_008127.1:g.24137del, NG_008127.1:g.24137dup, NG_008127.1:g.24136_24137dup, NG_008127.1:g.24135_24137dup, NG_008127.1:g.24134_24137dup, NG_008127.1:g.24133_24137dup, NG_008127.1:g.24128_24137dup

            6.

            rs1491174640 has merged into rs3039302 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ACACACACACACACACACACACACAC>-,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
              Chromosome:
              9:34467457 (GRCh38)
              9:34467455 (GRCh37)
              Canonical SPDI:
              NC_000009.12:34467440:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000009.12:34467440:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000009.12:34467440:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000009.12:34467440:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000009.12:34467440:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000009.12:34467440:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000009.12:34467440:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000009.12:34467440:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000009.12:34467440:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000009.12:34467440:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000009.12:34467440:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000009.12:34467440:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:34467440:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:34467440:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:34467440:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:34467440:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:34467440:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:34467440:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:34467440:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:34467440:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:34467440:ACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
              Gene:
              DNAI1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              ACACACACACACACAC=0./0 (ALFA)
              -=0.1668/643 (ALSPAC)
              -=0.4774/2391 (1000Genomes)
              HGVS:
              NC_000009.12:g.34467441AC[8], NC_000009.12:g.34467441AC[10], NC_000009.12:g.34467441AC[11], NC_000009.12:g.34467441AC[12], NC_000009.12:g.34467441AC[13], NC_000009.12:g.34467441AC[14], NC_000009.12:g.34467441AC[15], NC_000009.12:g.34467441AC[16], NC_000009.12:g.34467441AC[17], NC_000009.12:g.34467441AC[18], NC_000009.12:g.34467441AC[19], NC_000009.12:g.34467441AC[20], NC_000009.12:g.34467441AC[22], NC_000009.12:g.34467441AC[23], NC_000009.12:g.34467441AC[24], NC_000009.12:g.34467441AC[25], NC_000009.12:g.34467441AC[26], NC_000009.12:g.34467441AC[27], NC_000009.12:g.34467441AC[28], NC_000009.12:g.34467441AC[29], NC_000009.12:g.34467441AC[31], NC_000009.11:g.34467439AC[8], NC_000009.11:g.34467439AC[10], NC_000009.11:g.34467439AC[11], NC_000009.11:g.34467439AC[12], NC_000009.11:g.34467439AC[13], NC_000009.11:g.34467439AC[14], NC_000009.11:g.34467439AC[15], NC_000009.11:g.34467439AC[16], NC_000009.11:g.34467439AC[17], NC_000009.11:g.34467439AC[18], NC_000009.11:g.34467439AC[19], NC_000009.11:g.34467439AC[20], NC_000009.11:g.34467439AC[22], NC_000009.11:g.34467439AC[23], NC_000009.11:g.34467439AC[24], NC_000009.11:g.34467439AC[25], NC_000009.11:g.34467439AC[26], NC_000009.11:g.34467439AC[27], NC_000009.11:g.34467439AC[28], NC_000009.11:g.34467439AC[29], NC_000009.11:g.34467439AC[31], NG_008127.1:g.13629AC[8], NG_008127.1:g.13629AC[10], NG_008127.1:g.13629AC[11], NG_008127.1:g.13629AC[12], NG_008127.1:g.13629AC[13], NG_008127.1:g.13629AC[14], NG_008127.1:g.13629AC[15], NG_008127.1:g.13629AC[16], NG_008127.1:g.13629AC[17], NG_008127.1:g.13629AC[18], NG_008127.1:g.13629AC[19], NG_008127.1:g.13629AC[20], NG_008127.1:g.13629AC[22], NG_008127.1:g.13629AC[23], NG_008127.1:g.13629AC[24], NG_008127.1:g.13629AC[25], NG_008127.1:g.13629AC[26], NG_008127.1:g.13629AC[27], NG_008127.1:g.13629AC[28], NG_008127.1:g.13629AC[29], NG_008127.1:g.13629AC[31]

              7.

              rs1490982156 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                9:34511077 (GRCh38)
                9:34511075 (GRCh37)
                Canonical SPDI:
                NC_000009.12:34511076:G:A
                Gene:
                DNAI1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000014/2 (GnomAD)
                HGVS:

                8.

                rs1490910260 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  9:34469938 (GRCh38)
                  9:34469936 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:34469937:C:T
                  Gene:
                  DNAI1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  HGVS:

                  9.

                  rs1490899457 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,G [Show Flanks]
                    Chromosome:
                    9:34490061 (GRCh38)
                    9:34490059 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:34490060:A:C,NC_000009.12:34490060:A:G
                    Gene:
                    DNAI1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    C=0.000142/2 (TOMMO)
                    HGVS:

                    10.

                    rs1490820164 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      9:34471229 (GRCh38)
                      9:34471227 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:34471228:C:G
                      Gene:
                      DNAI1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:

                      11.

                      rs1490786817 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->A [Show Flanks]
                        Chromosome:
                        9:34486585 (GRCh38)
                        9:34486584 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:34486585:AA:AAA
                        Gene:
                        DNAI1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        AAA=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1490778500 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AGA>- [Show Flanks]
                          Chromosome:
                          9:34502660 (GRCh38)
                          9:34502658 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:34502656:AGAAGA:AGA
                          Gene:
                          DNAI1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AGAAGA=0./0 (ALFA)
                          -=0.000029/4 (GnomAD)
                          -=0.000034/9 (TOPMED)
                          -=0.000354/6 (TOMMO)
                          HGVS:

                          13.

                          rs1490679733 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,G [Show Flanks]
                            Chromosome:
                            9:34478678 (GRCh38)
                            9:34478676 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:34478677:A:C,NC_000009.12:34478677:A:G
                            Gene:
                            DNAI1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000066/1 (ALFA)
                            G=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            C=0.000223/1 (Estonian)
                            HGVS:

                            14.

                            rs1490613728 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              9:34462573 (GRCh38)
                              9:34462571 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:34462572:G:C
                              Gene:
                              DNAI1 (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:

                              15.

                              rs1490502755 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                9:34494805 (GRCh38)
                                9:34494803 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:34494804:G:C
                                Gene:
                                DNAI1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:

                                16.

                                rs1490487299 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  9:34497618 (GRCh38)
                                  9:34497616 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:34497617:A:C
                                  Gene:
                                  DNAI1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1490345637 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    9:34460571 (GRCh38)
                                    9:34460569 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:34460570:T:G
                                    Gene:
                                    DNAI1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    HGVS:

                                    18.

                                    rs1490333006 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      9:34520046 (GRCh38)
                                      9:34520044 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:34520045:A:T
                                      Gene:
                                      DNAI1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000011/3 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1490238554 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        9:34492819 (GRCh38)
                                        9:34492817 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:34492818:C:T
                                        Gene:
                                        DNAI1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000011/3 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1490167769 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          9:34493880 (GRCh38)
                                          9:34493878 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:34493879:T:C
                                          Gene:
                                          DNAI1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000049/13 (TOPMED)
                                          C=0.000057/8 (GnomAD)
                                          HGVS:

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