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1.

rs1491566053 has merged into rs11306025 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TT>-,T,TTT,TTTT [Show Flanks]
    Chromosome:
    2:157307022 (GRCh38)
    2:158163534 (GRCh37)
    Canonical SPDI:
    NC_000002.12:157307010:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:157307010:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:157307010:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:157307010:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
    Gene:
    GALNT5 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTTT=0./0 (ALFA)
    T=0.0485/180 (TWINSUK)
    T=0.049/189 (ALSPAC)
    T=0.07/42 (NorthernSweden)
    T=0.075/3 (GENOME_DK)
    T=0.1362/682 (1000Genomes)
    HGVS:

    2.

    rs1491442698 has merged into rs1288089376 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      2:157317204 (GRCh38)
      2:158173716 (GRCh37)
      Canonical SPDI:
      NC_000002.12:157317198:TTTTTTTTTTT:TTTTT,NC_000002.12:157317198:TTTTTTTTTTT:TTTTTTT,NC_000002.12:157317198:TTTTTTTTTTT:TTTTTTTT,NC_000002.12:157317198:TTTTTTTTTTT:TTTTTTTTT,NC_000002.12:157317198:TTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:157317198:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:157317198:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:157317198:TTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:157317198:TTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:157317198:TTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:157317198:TTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:157317198:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
      Gene:
      GALNT5 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTT=0./0 (ALFA)
      HGVS:
      NC_000002.12:g.157317204_157317209del, NC_000002.12:g.157317206_157317209del, NC_000002.12:g.157317207_157317209del, NC_000002.12:g.157317208_157317209del, NC_000002.12:g.157317209del, NC_000002.12:g.157317209dup, NC_000002.12:g.157317208_157317209dup, NC_000002.12:g.157317207_157317209dup, NC_000002.12:g.157317206_157317209dup, NC_000002.12:g.157317205_157317209dup, NC_000002.12:g.157317204_157317209dup, NC_000002.12:g.157317203_157317209dup, NC_000002.11:g.158173716_158173721del, NC_000002.11:g.158173718_158173721del, NC_000002.11:g.158173719_158173721del, NC_000002.11:g.158173720_158173721del, NC_000002.11:g.158173721del, NC_000002.11:g.158173721dup, NC_000002.11:g.158173720_158173721dup, NC_000002.11:g.158173719_158173721dup, NC_000002.11:g.158173718_158173721dup, NC_000002.11:g.158173717_158173721dup, NC_000002.11:g.158173716_158173721dup, NC_000002.11:g.158173715_158173721dup, NM_014568.3:c.*5856_*5861del, NM_014568.3:c.*5858_*5861del, NM_014568.3:c.*5859_*5861del, NM_014568.3:c.*5860_*5861del, NM_014568.3:c.*5861del, NM_014568.3:c.*5861dup, NM_014568.3:c.*5860_*5861dup, NM_014568.3:c.*5859_*5861dup, NM_014568.3:c.*5858_*5861dup, NM_014568.3:c.*5857_*5861dup, NM_014568.3:c.*5856_*5861dup, NM_014568.3:c.*5855_*5861dup, NM_014568.2:c.*5856_*5861del, NM_014568.2:c.*5858_*5861del, NM_014568.2:c.*5859_*5861del, NM_014568.2:c.*5860_*5861del, NM_014568.2:c.*5861del, NM_014568.2:c.*5861dup, NM_014568.2:c.*5860_*5861dup, NM_014568.2:c.*5859_*5861dup, NM_014568.2:c.*5858_*5861dup, NM_014568.2:c.*5857_*5861dup, NM_014568.2:c.*5856_*5861dup, NM_014568.2:c.*5855_*5861dup, NM_001329868.2:c.*5856_*5861del, NM_001329868.2:c.*5858_*5861del, NM_001329868.2:c.*5859_*5861del, NM_001329868.2:c.*5860_*5861del, NM_001329868.2:c.*5861del, NM_001329868.2:c.*5861dup, NM_001329868.2:c.*5860_*5861dup, NM_001329868.2:c.*5859_*5861dup, NM_001329868.2:c.*5858_*5861dup, NM_001329868.2:c.*5857_*5861dup, NM_001329868.2:c.*5856_*5861dup, NM_001329868.2:c.*5855_*5861dup, NM_001329868.1:c.*5856_*5861del, NM_001329868.1:c.*5858_*5861del, NM_001329868.1:c.*5859_*5861del, NM_001329868.1:c.*5860_*5861del, NM_001329868.1:c.*5861del, NM_001329868.1:c.*5861dup, NM_001329868.1:c.*5860_*5861dup, NM_001329868.1:c.*5859_*5861dup, NM_001329868.1:c.*5858_*5861dup, NM_001329868.1:c.*5857_*5861dup, NM_001329868.1:c.*5856_*5861dup, NM_001329868.1:c.*5855_*5861dup

      3.

      rs1491435536 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->TTGTGT [Show Flanks]
        Chromosome:
        2:157286894 (GRCh38)
        2:158143407 (GRCh37)
        Canonical SPDI:
        NC_000002.12:157286894:TGTGT:TGTGTTTGTGT
        Gene:
        GALNT5 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TGTGTTTGTGT=0./0 (ALFA)
        TGTGTT=0.000004/1 (TOPMED)
        TGTGTT=0.000032/1 (GnomAD)
        HGVS:

        4.

        rs1491383891 has merged into rs3072178 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
          Chromosome:
          2:157286912 (GRCh38)
          2:158143424 (GRCh37)
          Canonical SPDI:
          NC_000002.12:157286893:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000002.12:157286893:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000002.12:157286893:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:157286893:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:157286893:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:157286893:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:157286893:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:157286893:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:157286893:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:157286893:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:157286893:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:157286893:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:157286893:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:157286893:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:157286893:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:157286893:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:157286893:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:157286893:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:157286893:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:157286893:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:157286893:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:157286893:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:157286893:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
          Gene:
          GALNT5 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GTGTGTGTGTGTGTGTGT=0./0 (ALFA)
          -=0.1297/500 (ALSPAC)
          HGVS:
          NC_000002.12:g.157286894GT[9], NC_000002.12:g.157286894GT[10], NC_000002.12:g.157286894GT[11], NC_000002.12:g.157286894GT[12], NC_000002.12:g.157286894GT[13], NC_000002.12:g.157286894GT[14], NC_000002.12:g.157286894GT[15], NC_000002.12:g.157286894GT[16], NC_000002.12:g.157286894GT[17], NC_000002.12:g.157286894GT[18], NC_000002.12:g.157286894GT[19], NC_000002.12:g.157286894GT[20], NC_000002.12:g.157286894GT[21], NC_000002.12:g.157286894GT[23], NC_000002.12:g.157286894GT[24], NC_000002.12:g.157286894GT[25], NC_000002.12:g.157286894GT[26], NC_000002.12:g.157286894GT[27], NC_000002.12:g.157286894GT[28], NC_000002.12:g.157286894GT[29], NC_000002.12:g.157286894GT[30], NC_000002.12:g.157286894GT[31], NC_000002.12:g.157286894GT[32], NC_000002.11:g.158143406GT[9], NC_000002.11:g.158143406GT[10], NC_000002.11:g.158143406GT[11], NC_000002.11:g.158143406GT[12], NC_000002.11:g.158143406GT[13], NC_000002.11:g.158143406GT[14], NC_000002.11:g.158143406GT[15], NC_000002.11:g.158143406GT[16], NC_000002.11:g.158143406GT[17], NC_000002.11:g.158143406GT[18], NC_000002.11:g.158143406GT[19], NC_000002.11:g.158143406GT[20], NC_000002.11:g.158143406GT[21], NC_000002.11:g.158143406GT[23], NC_000002.11:g.158143406GT[24], NC_000002.11:g.158143406GT[25], NC_000002.11:g.158143406GT[26], NC_000002.11:g.158143406GT[27], NC_000002.11:g.158143406GT[28], NC_000002.11:g.158143406GT[29], NC_000002.11:g.158143406GT[30], NC_000002.11:g.158143406GT[31], NC_000002.11:g.158143406GT[32]

          5.

          rs1491355025 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->G [Show Flanks]
            Chromosome:
            2:157317167 (GRCh38)
            2:158173680 (GRCh37)
            Canonical SPDI:
            NC_000002.12:157317167:G:GG
            Gene:
            GALNT5 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GG=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000008/1 (GnomAD)
            HGVS:

            6.

            rs1491196830 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->A,ATA,ATATA,ATATATA,ATATATATA [Show Flanks]
              Chromosome:
              2:157317199 (GRCh38)
              2:158173712 (GRCh37)
              Canonical SPDI:
              NC_000002.12:157317199::A,NC_000002.12:157317199::ATA,NC_000002.12:157317199::ATATA,NC_000002.12:157317199::ATATATA,NC_000002.12:157317199::ATATATATA
              Gene:
              GALNT5 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              ATA=0./0 (ALFA)
              A=0.00964/17 (Korea1K)
              HGVS:
              NC_000002.12:g.157317199_157317200insA, NC_000002.12:g.157317199_157317200insATA, NC_000002.12:g.157317199_157317200insATATA, NC_000002.12:g.157317199_157317200insATATATA, NC_000002.12:g.157317199_157317200insATATATATA, NC_000002.11:g.158173711_158173712insA, NC_000002.11:g.158173711_158173712insATA, NC_000002.11:g.158173711_158173712insATATA, NC_000002.11:g.158173711_158173712insATATATA, NC_000002.11:g.158173711_158173712insATATATATA, NM_014568.3:c.*5851_*5852insA, NM_014568.3:c.*5851_*5852insATA, NM_014568.3:c.*5851_*5852insATATA, NM_014568.3:c.*5851_*5852insATATATA, NM_014568.3:c.*5851_*5852insATATATATA, NM_014568.2:c.*5851_*5852insA, NM_014568.2:c.*5851_*5852insATA, NM_014568.2:c.*5851_*5852insATATA, NM_014568.2:c.*5851_*5852insATATATA, NM_014568.2:c.*5851_*5852insATATATATA, NM_001329868.2:c.*5851_*5852insA, NM_001329868.2:c.*5851_*5852insATA, NM_001329868.2:c.*5851_*5852insATATA, NM_001329868.2:c.*5851_*5852insATATATA, NM_001329868.2:c.*5851_*5852insATATATATA, NM_001329868.1:c.*5851_*5852insA, NM_001329868.1:c.*5851_*5852insATA, NM_001329868.1:c.*5851_*5852insATATA, NM_001329868.1:c.*5851_*5852insATATATA, NM_001329868.1:c.*5851_*5852insATATATATA

              7.

              rs1491186325 has merged into rs1389307364 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GT>-,GTGT [Show Flanks]
                Chromosome:
                2:157317174 (GRCh38)
                2:158173686 (GRCh37)
                Canonical SPDI:
                NC_000002.12:157317166:TGTGTGTGT:TGTGTGT,NC_000002.12:157317166:TGTGTGTGT:TGTGTGTGTGT
                Gene:
                GALNT5 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TGTGTGTGTGT=0./0 (ALFA)
                TG=0.00843/54 (1000Genomes)
                HGVS:

                8.

                rs1491141569 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  AG>- [Show Flanks]
                  Chromosome:
                  2:157286893 (GRCh38)
                  2:158143405 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:157286892:AG:
                  Gene:
                  GALNT5 (Varview)
                  Functional Consequence:
                  intron_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0.000084/1 (ALFA)
                  -=0.000027/3 (GnomAD)
                  HGVS:

                  9.

                  rs1491133725 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    AT>- [Show Flanks]
                    Chromosome:
                    2:157307010 (GRCh38)
                    2:158163522 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:157307009:AT:
                    Gene:
                    GALNT5 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    -=0.00003/1 (GnomAD)
                    HGVS:

                    10.

                    rs1491063674 has merged into rs535714685 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                      Chromosome:
                      2:157262220 (GRCh38)
                      2:158118732 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:157262207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:157262207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:157262207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:157262207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:157262207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:157262207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:157262207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:157262207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:157262207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:157262207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:157262207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:157262207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:157262207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:157262207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:157262207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:157262207:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA
                      Gene:
                      GALNT5 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAAAAAAA=0./0 (ALFA)
                      -=0.1857/930 (1000Genomes)
                      HGVS:
                      NC_000002.12:g.157262220_157262225del, NC_000002.12:g.157262221_157262225del, NC_000002.12:g.157262223_157262225del, NC_000002.12:g.157262224_157262225del, NC_000002.12:g.157262225del, NC_000002.12:g.157262225dup, NC_000002.12:g.157262224_157262225dup, NC_000002.12:g.157262223_157262225dup, NC_000002.12:g.157262222_157262225dup, NC_000002.12:g.157262219_157262225dup, NC_000002.12:g.157262216_157262225dup, NC_000002.12:g.157262212_157262225dup, NC_000002.12:g.157262225_157262226insAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.157262225_157262226insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.157262208_157262225A[37]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.12:g.157262208_157262225A[30]TAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.158118732_158118737del, NC_000002.11:g.158118733_158118737del, NC_000002.11:g.158118735_158118737del, NC_000002.11:g.158118736_158118737del, NC_000002.11:g.158118737del, NC_000002.11:g.158118737dup, NC_000002.11:g.158118736_158118737dup, NC_000002.11:g.158118735_158118737dup, NC_000002.11:g.158118734_158118737dup, NC_000002.11:g.158118731_158118737dup, NC_000002.11:g.158118728_158118737dup, NC_000002.11:g.158118724_158118737dup, NC_000002.11:g.158118737_158118738insAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.158118737_158118738insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.158118720_158118737A[37]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.158118720_158118737A[30]TAAAAAAAAAAAAAAAAAAAAAAA[1]

                      11.

                      rs1490933774 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        2:157285414 (GRCh38)
                        2:158141926 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:157285413:T:C
                        Gene:
                        GALNT5 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1490865197 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          2:157284216 (GRCh38)
                          2:158140728 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:157284215:A:G
                          Gene:
                          GALNT5 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1490617197 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G,T [Show Flanks]
                            Chromosome:
                            2:157285923 (GRCh38)
                            2:158142435 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:157285922:A:G,NC_000002.12:157285922:A:T
                            Gene:
                            GALNT5 (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:

                            14.

                            rs1490584142 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              2:157287989 (GRCh38)
                              2:158144501 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:157287988:C:T
                              Gene:
                              GALNT5 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1490537860 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                2:157308080 (GRCh38)
                                2:158164592 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:157308079:A:G
                                Gene:
                                GALNT5 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000014/2 (GnomAD)
                                HGVS:

                                16.

                                rs1490510780 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  2:157304161 (GRCh38)
                                  2:158160673 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:157304160:A:G
                                  Gene:
                                  GALNT5 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1490509965 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    2:157291819 (GRCh38)
                                    2:158148331 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:157291818:G:A,NC_000002.12:157291818:G:C
                                    Gene:
                                    GALNT5 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    HGVS:

                                    18.

                                    rs1490489816 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      2:157277381 (GRCh38)
                                      2:158133893 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:157277380:C:A
                                      Gene:
                                      GALNT5 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      HGVS:

                                      19.

                                      rs1490478255 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        2:157270312 (GRCh38)
                                        2:158126824 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:157270311:T:C
                                        Gene:
                                        GALNT5 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000011/3 (TOPMED)
                                        C=0.000021/3 (GnomAD)
                                        C=0.000312/2 (1000Genomes)
                                        HGVS:

                                        20.

                                        rs1490434972 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          2:157306951 (GRCh38)
                                          2:158163463 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:157306950:T:C
                                          Gene:
                                          GALNT5 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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