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1.

rs1491588049 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AA>- [Show Flanks]
    Chromosome:
    11:62870852 (GRCh38)
    11:62638324 (GRCh37)
    Canonical SPDI:
    NC_000011.10:62870851:AA:
    Gene:
    SLC3A2 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by cluster
    MAF:
    -=0.00195/6 (ExAC)
    -=0.00232/31 (GnomAD_exomes)
    -=0.04042/674 (TOMMO)
    -=0.04833/29 (NorthernSweden)
    -=0.05/2 (GENOME_DK)
    -=0.06799/6420 (GnomAD)
    HGVS:

    2.

    rs1491579714 has merged into rs56758000 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      11:62867330 (GRCh38)
      11:62634802 (GRCh37)
      Canonical SPDI:
      NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:62867322:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      SLC3A2 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTT=0./0 (ALFA)
      T=0./0 (GENOME_DK)
      -=0.1902/733 (ALSPAC)
      HGVS:
      NC_000011.10:g.62867330_62867344del, NC_000011.10:g.62867331_62867344del, NC_000011.10:g.62867332_62867344del, NC_000011.10:g.62867333_62867344del, NC_000011.10:g.62867334_62867344del, NC_000011.10:g.62867335_62867344del, NC_000011.10:g.62867336_62867344del, NC_000011.10:g.62867337_62867344del, NC_000011.10:g.62867338_62867344del, NC_000011.10:g.62867339_62867344del, NC_000011.10:g.62867340_62867344del, NC_000011.10:g.62867341_62867344del, NC_000011.10:g.62867342_62867344del, NC_000011.10:g.62867343_62867344del, NC_000011.10:g.62867344del, NC_000011.10:g.62867344dup, NC_000011.10:g.62867343_62867344dup, NC_000011.10:g.62867342_62867344dup, NC_000011.10:g.62867341_62867344dup, NC_000011.10:g.62867340_62867344dup, NC_000011.10:g.62867339_62867344dup, NC_000011.10:g.62867338_62867344dup, NC_000011.10:g.62867337_62867344dup, NC_000011.10:g.62867336_62867344dup, NC_000011.10:g.62867335_62867344dup, NC_000011.10:g.62867334_62867344dup, NC_000011.10:g.62867333_62867344dup, NC_000011.10:g.62867332_62867344dup, NC_000011.10:g.62867331_62867344dup, NC_000011.10:g.62867330_62867344dup, NC_000011.10:g.62867329_62867344dup, NC_000011.10:g.62867328_62867344dup, NC_000011.10:g.62867326_62867344dup, NC_000011.10:g.62867323_62867344dup, NC_000011.10:g.62867344_62867345insTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.62867344_62867345insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.62867344_62867345insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.62867344_62867345insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.62634802_62634816del, NC_000011.9:g.62634803_62634816del, NC_000011.9:g.62634804_62634816del, NC_000011.9:g.62634805_62634816del, NC_000011.9:g.62634806_62634816del, NC_000011.9:g.62634807_62634816del, NC_000011.9:g.62634808_62634816del, NC_000011.9:g.62634809_62634816del, NC_000011.9:g.62634810_62634816del, NC_000011.9:g.62634811_62634816del, NC_000011.9:g.62634812_62634816del, NC_000011.9:g.62634813_62634816del, NC_000011.9:g.62634814_62634816del, NC_000011.9:g.62634815_62634816del, NC_000011.9:g.62634816del, NC_000011.9:g.62634816dup, NC_000011.9:g.62634815_62634816dup, NC_000011.9:g.62634814_62634816dup, NC_000011.9:g.62634813_62634816dup, NC_000011.9:g.62634812_62634816dup, NC_000011.9:g.62634811_62634816dup, NC_000011.9:g.62634810_62634816dup, NC_000011.9:g.62634809_62634816dup, NC_000011.9:g.62634808_62634816dup, NC_000011.9:g.62634807_62634816dup, NC_000011.9:g.62634806_62634816dup, NC_000011.9:g.62634805_62634816dup, NC_000011.9:g.62634804_62634816dup, NC_000011.9:g.62634803_62634816dup, NC_000011.9:g.62634802_62634816dup, NC_000011.9:g.62634801_62634816dup, NC_000011.9:g.62634800_62634816dup, NC_000011.9:g.62634798_62634816dup, NC_000011.9:g.62634795_62634816dup, NC_000011.9:g.62634816_62634817insTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.62634816_62634817insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.62634816_62634817insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.62634816_62634817insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

      3.

      rs1491549390 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        11:62887699 (GRCh38)
        11:62655171 (GRCh37)
        Canonical SPDI:
        NC_000011.10:62887698:CA:
        Gene:
        SLC3A2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:

        4.

        rs1491532246 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->G [Show Flanks]
          Chromosome:
          11:62854362 (GRCh38)
          11:62621835 (GRCh37)
          Canonical SPDI:
          NC_000011.10:62854362:GGGG:GGGGG
          Gene:
          SLC3A2 (Varview), SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD28 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
          Functional Consequence:
          upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GGGGG=0./0 (ALFA)
          G=0.000011/3 (TOPMED)
          G=0.000029/4 (GnomAD)
          HGVS:

          5.

          rs1491521324 has merged into rs35320203 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            11:62865574 (GRCh38)
            11:62633046 (GRCh37)
            Canonical SPDI:
            NC_000011.10:62865561:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:62865561:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:62865561:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:62865561:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:62865561:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:62865561:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:62865561:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:62865561:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:62865561:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:62865561:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:62865561:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:62865561:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:62865561:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:62865561:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:62865561:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            SLC3A2 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAAAAA=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            HGVS:
            NC_000011.10:g.62865574_62865583del, NC_000011.10:g.62865577_62865583del, NC_000011.10:g.62865578_62865583del, NC_000011.10:g.62865579_62865583del, NC_000011.10:g.62865580_62865583del, NC_000011.10:g.62865581_62865583del, NC_000011.10:g.62865582_62865583del, NC_000011.10:g.62865583del, NC_000011.10:g.62865583dup, NC_000011.10:g.62865582_62865583dup, NC_000011.10:g.62865581_62865583dup, NC_000011.10:g.62865580_62865583dup, NC_000011.10:g.62865579_62865583dup, NC_000011.10:g.62865578_62865583dup, NC_000011.10:g.62865572_62865583dup, NC_000011.9:g.62633046_62633055del, NC_000011.9:g.62633049_62633055del, NC_000011.9:g.62633050_62633055del, NC_000011.9:g.62633051_62633055del, NC_000011.9:g.62633052_62633055del, NC_000011.9:g.62633053_62633055del, NC_000011.9:g.62633054_62633055del, NC_000011.9:g.62633055del, NC_000011.9:g.62633055dup, NC_000011.9:g.62633054_62633055dup, NC_000011.9:g.62633053_62633055dup, NC_000011.9:g.62633052_62633055dup, NC_000011.9:g.62633051_62633055dup, NC_000011.9:g.62633050_62633055dup, NC_000011.9:g.62633044_62633055dup

            6.

            rs1491456784 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->TATTAT [Show Flanks]
              Chromosome:
              11:62870843 (GRCh38)
              11:62638316 (GRCh37)
              Canonical SPDI:
              NC_000011.10:62870843:AT:ATTATTAT
              Gene:
              SLC3A2 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              ATTATTAT=0./0 (ALFA)
              HGVS:

              7.

              rs1491427490 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                AG>- [Show Flanks]
                Chromosome:
                11:62854362 (GRCh38)
                11:62621834 (GRCh37)
                Canonical SPDI:
                NC_000011.10:62854361:AG:
                Gene:
                SLC3A2 (Varview), SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD28 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
                Functional Consequence:
                upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                -=0.00005/7 (GnomAD)
                HGVS:

                8.

                rs1491419177 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  AA>- [Show Flanks]
                  Chromosome:
                  11:62870843 (GRCh38)
                  11:62638315 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:62870842:AA:
                  Gene:
                  SLC3A2 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  -=0.00062/9 (TOMMO)
                  -=0.01847/1081 (GnomAD)
                  HGVS:

                  9.

                  rs1491400003 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->TAT,TATTAT,TATTATTAT,TATTATTATTAT [Show Flanks]
                    Chromosome:
                    11:62870849 (GRCh38)
                    11:62638322 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:62870849:AT:ATTAT,NC_000011.10:62870849:AT:ATTATTAT,NC_000011.10:62870849:AT:ATTATTATTAT,NC_000011.10:62870849:AT:ATTATTATTATTAT
                    Gene:
                    SLC3A2 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    ATTATTAT=0./0 (ALFA)
                    HGVS:

                    10.

                    rs1491388773 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->C [Show Flanks]
                      Chromosome:
                      11:62865562 (GRCh38)
                      11:62633035 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:62865562::C
                      Gene:
                      SLC3A2 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0.00008/1 (ALFA)
                      HGVS:

                      11.

                      rs1491315298 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->CTTT [Show Flanks]
                        Chromosome:
                        11:62867323 (GRCh38)
                        11:62634796 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:62867323:TTT:TTTCTTT
                        Gene:
                        SLC3A2 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TTTCTTT=0.00008/1 (ALFA)
                        HGVS:

                        12.

                        rs1491261517 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->GG [Show Flanks]
                          Chromosome:
                          11:62854252 (GRCh38)
                          11:62621725 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:62854252:GGGG:GGGGGG
                          Gene:
                          SLC3A2 (Varview), SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD28 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          GGGGGG=0./0 (ALFA)
                          GG=0.000008/2 (TOPMED)
                          GG=0.000021/3 (GnomAD)
                          HGVS:

                          13.

                          rs1491156194 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->TAT,TATTAT [Show Flanks]
                            Chromosome:
                            11:62870846 (GRCh38)
                            11:62638319 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:62870846:AT:ATTAT,NC_000011.10:62870846:AT:ATTATTAT
                            Gene:
                            SLC3A2 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            ATTATTAT=0./0 (ALFA)
                            HGVS:

                            14.

                            rs1491152201 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              AG>- [Show Flanks]
                              Chromosome:
                              11:62854252 (GRCh38)
                              11:62621724 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:62854251:AG:
                              Gene:
                              SLC3A2 (Varview), SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD28 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              -=0./0 (ALFA)
                              -=0.000011/3 (TOPMED)
                              -=0.000014/2 (GnomAD)
                              HGVS:

                              15.

                              rs1490872341 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                11:62883411 (GRCh38)
                                11:62650883 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:62883410:G:A
                                Gene:
                                SLC3A2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1490617904 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  11:62875122 (GRCh38)
                                  11:62642594 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:62875121:T:A
                                  Gene:
                                  SLC3A2 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000023/6 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1490433174 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    11:62855498 (GRCh38)
                                    11:62622970 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:62855497:C:G
                                    Gene:
                                    SLC3A2 (Varview), SNORD29 (Varview), SNORD30 (Varview), SNORD28 (Varview), SNORD27 (Varview), SNORD26 (Varview), SNORD25 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000071/1 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000021/3 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1490408231 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      11:62876338 (GRCh38)
                                      11:62643810 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:62876337:T:G
                                      Gene:
                                      SLC3A2 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000011/3 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1490392068 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        11:62855315 (GRCh38)
                                        11:62622787 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:62855314:T:C
                                        Gene:
                                        SLC3A2 (Varview), SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD28 (Varview), SNORD27 (Varview), SNORD26 (Varview), SNORD25 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1490255187 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          11:62888504 (GRCh38)
                                          11:62655976 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:62888503:C:G,NC_000011.10:62888503:C:T
                                          Gene:
                                          SLC3A2 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          G=0.000004/1 (GnomAD_exomes)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000011.10:g.62888504C>G, NC_000011.10:g.62888504C>T, NC_000011.9:g.62655976C>G, NC_000011.9:g.62655976C>T, NM_002394.6:c.1704C>G, NM_002394.6:c.1704C>T, NM_002394.5:c.1704C>G, NM_002394.5:c.1704C>T, NM_001012662.3:c.1707C>G, NM_001012662.3:c.1707C>T, NM_001012662.2:c.1707C>G, NM_001012662.2:c.1707C>T, NM_001012664.3:c.1518C>G, NM_001012664.3:c.1518C>T, NM_001012664.2:c.1518C>G, NM_001012664.2:c.1518C>T, NM_001013251.3:c.1401C>G, NM_001013251.3:c.1401C>T, NM_001013251.2:c.1401C>G, NM_001013251.2:c.1401C>T, NR_037193.2:n.1295C>G, NR_037193.2:n.1295C>T, NR_037193.1:n.1295C>G, NR_037193.1:n.1295C>T, NM_001012661.1:c.1797C>G, NM_001012661.1:c.1797C>T, NM_001012663.1:c.1611C>G, NM_001012663.1:c.1611C>T, NP_002385.3:p.Asn568Lys, NP_001012680.1:p.Asn569Lys, NP_001012682.1:p.Asn506Lys, NP_001013269.1:p.Asn467Lys

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