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Items: 1 to 20 of 1000

1.

rs1491518741 has merged into rs374127112 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    G>- [Show Flanks]
    Chromosome:
    1:217429847 (GRCh38)
    1:217603189 (GRCh37)
    Canonical SPDI:
    NC_000001.11:217429846:G:
    Gene:
    GPATCH2 (Varview)
    Functional Consequence:
    3_prime_UTR_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0.00037/6 (ALFA)
    -=0.0005/8 (TOMMO)
    HGVS:

    2.

    rs1491513923 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->A [Show Flanks]
      Chromosome:
      1:217559872 (GRCh38)
      1:217733215 (GRCh37)
      Canonical SPDI:
      NC_000001.11:217559872::A
      Gene:
      GPATCH2 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by cluster
      MAF:
      A=0.000203/28 (GnomAD)
      A=0.001097/18 (TOMMO)
      A=0.004367/8 (Korea1K)
      HGVS:

      3.

      rs1491513466 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->GAAAA [Show Flanks]
        Chromosome:
        1:217608217 (GRCh38)
        1:217781560 (GRCh37)
        Canonical SPDI:
        NC_000001.11:217608217:AAAA:AAAAGAAAA
        Gene:
        GPATCH2 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAGAAAA=0./0 (ALFA)
        AAAAG=0.000004/1 (TOPMED)
        AAAAG=0.000034/2 (GnomAD)
        HGVS:

        4.

        rs1491507538 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GT>- [Show Flanks]
          Chromosome:
          1:217454584 (GRCh38)
          1:217627926 (GRCh37)
          Canonical SPDI:
          NC_000001.11:217454582:TGT:T
          Gene:
          GPATCH2 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          -=0.000012/1 (GnomAD)
          HGVS:

          5.

          rs1491498381 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->CAAA [Show Flanks]
            Chromosome:
            1:217566102 (GRCh38)
            1:217739445 (GRCh37)
            Canonical SPDI:
            NC_000001.11:217566102:AAA:AAACAAA
            Gene:
            GPATCH2 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            AAACAAA=0./0 (ALFA)
            HGVS:

            6.

            rs1491496251 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AG>- [Show Flanks]
              Chromosome:
              1:217598474 (GRCh38)
              1:217771816 (GRCh37)
              Canonical SPDI:
              NC_000001.11:217598471:AGAG:AG
              Gene:
              GPATCH2 (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AGAG=0./0 (ALFA)
              -=0.000011/3 (TOPMED)
              -=0.000022/3 (GnomAD)
              HGVS:

              7.

              rs1491476016 has merged into rs34921892 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                1:217491871 (GRCh38)
                1:217665213 (GRCh37)
                Canonical SPDI:
                NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                GPATCH2 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTTT=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                -=0.049299/190 (ALSPAC)
                -=0.489217/2450 (1000Genomes)
                HGVS:
                NC_000001.11:g.217491871_217491879del, NC_000001.11:g.217491876_217491879del, NC_000001.11:g.217491877_217491879del, NC_000001.11:g.217491878_217491879del, NC_000001.11:g.217491879del, NC_000001.11:g.217491879dup, NC_000001.11:g.217491878_217491879dup, NC_000001.11:g.217491867_217491879dup, NC_000001.11:g.217491865_217491879dup, NC_000001.11:g.217491879_217491880insTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.217491879_217491880insTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.217491879_217491880insTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.217491879_217491880insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.217491863_217491879T[41]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.217665213_217665221del, NC_000001.10:g.217665218_217665221del, NC_000001.10:g.217665219_217665221del, NC_000001.10:g.217665220_217665221del, NC_000001.10:g.217665221del, NC_000001.10:g.217665221dup, NC_000001.10:g.217665220_217665221dup, NC_000001.10:g.217665209_217665221dup, NC_000001.10:g.217665207_217665221dup, NC_000001.10:g.217665221_217665222insTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.217665221_217665222insTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.217665221_217665222insTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.217665221_217665222insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.217665205_217665221T[41]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_053034.1:g.144232_144240del, NG_053034.1:g.144237_144240del, NG_053034.1:g.144238_144240del, NG_053034.1:g.144239_144240del, NG_053034.1:g.144240del, NG_053034.1:g.144240dup, NG_053034.1:g.144239_144240dup, NG_053034.1:g.144228_144240dup, NG_053034.1:g.144226_144240dup, NG_053034.1:g.144240_144241insAAAAAAAAAAAAAAAAAAA, NG_053034.1:g.144240_144241insAAAAAAAAAAAAAAAAAAAA, NG_053034.1:g.144240_144241insAAAAAAAAAAAAAAAAAAAAA, NG_053034.1:g.144240_144241insAAAAAAAAAAAAAAAAAAAAAAA, NG_053034.1:g.144224_144240A[27]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XM_017001593.3:c.*833_*841del, XM_017001593.3:c.*838_*841del, XM_017001593.3:c.*839_*841del, XM_017001593.3:c.*840_*841del, XM_017001593.3:c.*841del, XM_017001593.3:c.*841dup, XM_017001593.3:c.*840_*841dup, XM_017001593.3:c.*829_*841dup, XM_017001593.3:c.*827_*841dup, XM_017001593.3:c.*841_*842insAAAAAAAAAAAAAAAAAAA, XM_017001593.3:c.*841_*842insAAAAAAAAAAAAAAAAAAAA, XM_017001593.3:c.*841_*842insAAAAAAAAAAAAAAAAAAAAA, XM_017001593.3:c.*841_*842insAAAAAAAAAAAAAAAAAAAAAAA, XM_017001593.3:c.*825_*841A[27]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XM_017001593.2:c.*833_*841del, XM_017001593.2:c.*838_*841del, XM_017001593.2:c.*839_*841del, XM_017001593.2:c.*840_*841del, XM_017001593.2:c.*841del, XM_017001593.2:c.*841dup, XM_017001593.2:c.*840_*841dup, XM_017001593.2:c.*829_*841dup, XM_017001593.2:c.*827_*841dup, XM_017001593.2:c.*841_*842insAAAAAAAAAAAAAAAAAAA, XM_017001593.2:c.*841_*842insAAAAAAAAAAAAAAAAAAAA, XM_017001593.2:c.*841_*842insAAAAAAAAAAAAAAAAAAAAA, XM_017001593.2:c.*841_*842insAAAAAAAAAAAAAAAAAAAAAAA, XM_017001593.2:c.*825_*841A[27]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XM_017001593.1:c.*833_*841del, XM_017001593.1:c.*838_*841del, XM_017001593.1:c.*839_*841del, XM_017001593.1:c.*840_*841del, XM_017001593.1:c.*841del, XM_017001593.1:c.*841dup, XM_017001593.1:c.*840_*841dup, XM_017001593.1:c.*829_*841dup, XM_017001593.1:c.*827_*841dup, XM_017001593.1:c.*841_*842insAAAAAAAAAAAAAAAAAAA, XM_017001593.1:c.*841_*842insAAAAAAAAAAAAAAAAAAAA, XM_017001593.1:c.*841_*842insAAAAAAAAAAAAAAAAAAAAA, XM_017001593.1:c.*841_*842insAAAAAAAAAAAAAAAAAAAAAAA, XM_017001593.1:c.*825_*841A[27]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XM_047423801.1:c.*805_*813del, XM_047423801.1:c.*810_*813del, XM_047423801.1:c.*811_*813del, XM_047423801.1:c.*812_*813del, XM_047423801.1:c.*813del, XM_047423801.1:c.*813dup, XM_047423801.1:c.*812_*813dup, XM_047423801.1:c.*801_*813dup, XM_047423801.1:c.*799_*813dup, XM_047423801.1:c.*813_*814insAAAAAAAAAAAAAAAAAAA, XM_047423801.1:c.*813_*814insAAAAAAAAAAAAAAAAAAAA, XM_047423801.1:c.*813_*814insAAAAAAAAAAAAAAAAAAAAA, XM_047423801.1:c.*813_*814insAAAAAAAAAAAAAAAAAAAAAAA, XM_047423801.1:c.*797_*813A[27]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

                8.

                rs1491470475 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->G [Show Flanks]
                  Chromosome:
                  1:217567047 (GRCh38)
                  1:217740390 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:217567047::G
                  Gene:
                  GPATCH2 (Varview)
                  Functional Consequence:
                  intron_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.00007/1 (TOMMO)
                  G=0.00118/2 (Korea1K)
                  HGVS:

                  9.

                  rs1491458786 has merged into rs71301102 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
                    Chromosome:
                    1:217567060 (GRCh38)
                    1:217740402 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:217567046:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:217567046:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:217567046:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:217567046:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:217567046:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:217567046:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:217567046:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:217567046:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
                    Gene:
                    GPATCH2 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTTTTTTTTT=0./0 (ALFA)
                    T=0.00086/24 (TOMMO)
                    T=0.00385/7 (Korea1K)
                    HGVS:
                    NC_000001.11:g.217567060_217567063del, NC_000001.11:g.217567061_217567063del, NC_000001.11:g.217567062_217567063del, NC_000001.11:g.217567063del, NC_000001.11:g.217567063dup, NC_000001.11:g.217567062_217567063dup, NC_000001.11:g.217567061_217567063dup, NC_000001.11:g.217567060_217567063dup, NC_000001.10:g.217740402_217740405del, NC_000001.10:g.217740403_217740405del, NC_000001.10:g.217740404_217740405del, NC_000001.10:g.217740405del, NC_000001.10:g.217740405dup, NC_000001.10:g.217740404_217740405dup, NC_000001.10:g.217740403_217740405dup, NC_000001.10:g.217740402_217740405dup, NG_053034.1:g.69053_69056del, NG_053034.1:g.69054_69056del, NG_053034.1:g.69055_69056del, NG_053034.1:g.69056del, NG_053034.1:g.69056dup, NG_053034.1:g.69055_69056dup, NG_053034.1:g.69054_69056dup, NG_053034.1:g.69053_69056dup

                    10.

                    rs1491455488 has merged into rs35618356 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AA>-,A,AAA [Show Flanks]
                      Chromosome:
                      1:217516239 (GRCh38)
                      1:217689581 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:217516231:AAAAAAAAA:AAAAAAA,NC_000001.11:217516231:AAAAAAAAA:AAAAAAAA,NC_000001.11:217516231:AAAAAAAAA:AAAAAAAAAA
                      Gene:
                      GPATCH2 (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAAAA=0./0 (ALFA)
                      -=0.00018/3 (TOMMO)
                      -=0.0786/47 (NorthernSweden)
                      -=0.12364/544 (Estonian)
                      -=0.15/6 (GENOME_DK)
                      -=0.21945/1099 (1000Genomes)
                      HGVS:

                      11.

                      rs1491450102 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->C [Show Flanks]
                        Chromosome:
                        1:217598472 (GRCh38)
                        1:217771815 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:217598472::C
                        Gene:
                        GPATCH2 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000014/2 (GnomAD)
                        C=0.000015/4 (TOPMED)
                        HGVS:

                        12.

                        rs1491447665 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          CA>- [Show Flanks]
                          Chromosome:
                          1:217433361 (GRCh38)
                          1:217606703 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:217433360:CA:
                          Gene:
                          GPATCH2 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0./0 (ALFA)
                          -=0.000009/1 (GnomAD)
                          HGVS:

                          13.

                          rs1491433198 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->C [Show Flanks]
                            Chromosome:
                            1:217568146 (GRCh38)
                            1:217741489 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:217568146:CCCC:CCCCC
                            Gene:
                            GPATCH2 (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            CCCCC=0.000142/2 (ALFA)
                            C=0.000043/6 (GnomAD)
                            C=0.000053/14 (TOPMED)
                            HGVS:

                            14.

                            rs1491426786 has merged into rs34921892 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                              Chromosome:
                              1:217491871 (GRCh38)
                              1:217665213 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:217491862:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT
                              Gene:
                              GPATCH2 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTTTTTTTTTTT=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              -=0.049299/190 (ALSPAC)
                              -=0.489217/2450 (1000Genomes)
                              HGVS:
                              NC_000001.11:g.217491871_217491879del, NC_000001.11:g.217491876_217491879del, NC_000001.11:g.217491877_217491879del, NC_000001.11:g.217491878_217491879del, NC_000001.11:g.217491879del, NC_000001.11:g.217491879dup, NC_000001.11:g.217491878_217491879dup, NC_000001.11:g.217491867_217491879dup, NC_000001.11:g.217491865_217491879dup, NC_000001.11:g.217491879_217491880insTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.217491879_217491880insTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.217491879_217491880insTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.217491879_217491880insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.217491863_217491879T[41]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.217665213_217665221del, NC_000001.10:g.217665218_217665221del, NC_000001.10:g.217665219_217665221del, NC_000001.10:g.217665220_217665221del, NC_000001.10:g.217665221del, NC_000001.10:g.217665221dup, NC_000001.10:g.217665220_217665221dup, NC_000001.10:g.217665209_217665221dup, NC_000001.10:g.217665207_217665221dup, NC_000001.10:g.217665221_217665222insTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.217665221_217665222insTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.217665221_217665222insTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.217665221_217665222insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.217665205_217665221T[41]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_053034.1:g.144232_144240del, NG_053034.1:g.144237_144240del, NG_053034.1:g.144238_144240del, NG_053034.1:g.144239_144240del, NG_053034.1:g.144240del, NG_053034.1:g.144240dup, NG_053034.1:g.144239_144240dup, NG_053034.1:g.144228_144240dup, NG_053034.1:g.144226_144240dup, NG_053034.1:g.144240_144241insAAAAAAAAAAAAAAAAAAA, NG_053034.1:g.144240_144241insAAAAAAAAAAAAAAAAAAAA, NG_053034.1:g.144240_144241insAAAAAAAAAAAAAAAAAAAAA, NG_053034.1:g.144240_144241insAAAAAAAAAAAAAAAAAAAAAAA, NG_053034.1:g.144224_144240A[27]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XM_017001593.3:c.*833_*841del, XM_017001593.3:c.*838_*841del, XM_017001593.3:c.*839_*841del, XM_017001593.3:c.*840_*841del, XM_017001593.3:c.*841del, XM_017001593.3:c.*841dup, XM_017001593.3:c.*840_*841dup, XM_017001593.3:c.*829_*841dup, XM_017001593.3:c.*827_*841dup, XM_017001593.3:c.*841_*842insAAAAAAAAAAAAAAAAAAA, XM_017001593.3:c.*841_*842insAAAAAAAAAAAAAAAAAAAA, XM_017001593.3:c.*841_*842insAAAAAAAAAAAAAAAAAAAAA, XM_017001593.3:c.*841_*842insAAAAAAAAAAAAAAAAAAAAAAA, XM_017001593.3:c.*825_*841A[27]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XM_017001593.2:c.*833_*841del, XM_017001593.2:c.*838_*841del, XM_017001593.2:c.*839_*841del, XM_017001593.2:c.*840_*841del, XM_017001593.2:c.*841del, XM_017001593.2:c.*841dup, XM_017001593.2:c.*840_*841dup, XM_017001593.2:c.*829_*841dup, XM_017001593.2:c.*827_*841dup, XM_017001593.2:c.*841_*842insAAAAAAAAAAAAAAAAAAA, XM_017001593.2:c.*841_*842insAAAAAAAAAAAAAAAAAAAA, XM_017001593.2:c.*841_*842insAAAAAAAAAAAAAAAAAAAAA, XM_017001593.2:c.*841_*842insAAAAAAAAAAAAAAAAAAAAAAA, XM_017001593.2:c.*825_*841A[27]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XM_017001593.1:c.*833_*841del, XM_017001593.1:c.*838_*841del, XM_017001593.1:c.*839_*841del, XM_017001593.1:c.*840_*841del, XM_017001593.1:c.*841del, XM_017001593.1:c.*841dup, XM_017001593.1:c.*840_*841dup, XM_017001593.1:c.*829_*841dup, XM_017001593.1:c.*827_*841dup, XM_017001593.1:c.*841_*842insAAAAAAAAAAAAAAAAAAA, XM_017001593.1:c.*841_*842insAAAAAAAAAAAAAAAAAAAA, XM_017001593.1:c.*841_*842insAAAAAAAAAAAAAAAAAAAAA, XM_017001593.1:c.*841_*842insAAAAAAAAAAAAAAAAAAAAAAA, XM_017001593.1:c.*825_*841A[27]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XM_047423801.1:c.*805_*813del, XM_047423801.1:c.*810_*813del, XM_047423801.1:c.*811_*813del, XM_047423801.1:c.*812_*813del, XM_047423801.1:c.*813del, XM_047423801.1:c.*813dup, XM_047423801.1:c.*812_*813dup, XM_047423801.1:c.*801_*813dup, XM_047423801.1:c.*799_*813dup, XM_047423801.1:c.*813_*814insAAAAAAAAAAAAAAAAAAA, XM_047423801.1:c.*813_*814insAAAAAAAAAAAAAAAAAAAA, XM_047423801.1:c.*813_*814insAAAAAAAAAAAAAAAAAAAAA, XM_047423801.1:c.*813_*814insAAAAAAAAAAAAAAAAAAAAAAA, XM_047423801.1:c.*797_*813A[27]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

                              15.

                              rs1491422248 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                CA>- [Show Flanks]
                                Chromosome:
                                1:217557409 (GRCh38)
                                1:217730751 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:217557408:CA:
                                Gene:
                                GPATCH2 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0.00025/3 (ALFA)
                                HGVS:

                                16.

                                rs1491418405 has merged into rs59474147 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AGAGAGAGAGAG>-,AG,AGAG,AGAGAG,AGAGAGAG,AGAGAGAGAG,AGAGAGAGAGAGAG,AGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAG [Show Flanks]
                                  Chromosome:
                                  1:217559889 (GRCh38)
                                  1:217733231 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:217559873:GAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAG,NC_000001.11:217559873:GAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAG,NC_000001.11:217559873:GAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAG,NC_000001.11:217559873:GAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAG,NC_000001.11:217559873:GAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:217559873:GAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:217559873:GAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:217559873:GAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:217559873:GAGAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
                                  Gene:
                                  GPATCH2 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GAGAGAGAGAGAGAGAGAG=0./0 (ALFA)
                                  GA=0.125/1 (KOREAN)
                                  HGVS:
                                  NC_000001.11:g.217559875AG[7], NC_000001.11:g.217559875AG[8], NC_000001.11:g.217559875AG[9], NC_000001.11:g.217559875AG[10], NC_000001.11:g.217559875AG[11], NC_000001.11:g.217559875AG[12], NC_000001.11:g.217559875AG[14], NC_000001.11:g.217559875AG[15], NC_000001.11:g.217559875AG[16], NC_000001.10:g.217733217AG[7], NC_000001.10:g.217733217AG[8], NC_000001.10:g.217733217AG[9], NC_000001.10:g.217733217AG[10], NC_000001.10:g.217733217AG[11], NC_000001.10:g.217733217AG[12], NC_000001.10:g.217733217AG[14], NC_000001.10:g.217733217AG[15], NC_000001.10:g.217733217AG[16], NG_053034.1:g.76204TC[7], NG_053034.1:g.76204TC[8], NG_053034.1:g.76204TC[9], NG_053034.1:g.76204TC[10], NG_053034.1:g.76204TC[11], NG_053034.1:g.76204TC[12], NG_053034.1:g.76204TC[14], NG_053034.1:g.76204TC[15], NG_053034.1:g.76204TC[16]

                                  17.

                                  rs1491372009 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TA>- [Show Flanks]
                                    Chromosome:
                                    1:217526208 (GRCh38)
                                    1:217699550 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:217526206:ATA:A
                                    Gene:
                                    GPATCH2 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    -=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1491310422 has merged into rs35584120 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AA>-,A,AAA,AAAA [Show Flanks]
                                      Chromosome:
                                      1:217601438 (GRCh38)
                                      1:217774780 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:217601428:AAAAAAAAAAA:AAAAAAAAA,NC_000001.11:217601428:AAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:217601428:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:217601428:AAAAAAAAAAA:AAAAAAAAAAAAA
                                      Gene:
                                      GPATCH2 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAAAAAAAAA=0./0 (ALFA)
                                      A=0.125/5 (GENOME_DK)
                                      A=0.13059/654 (1000Genomes)
                                      A=0.17017/631 (TWINSUK)
                                      A=0.18215/702 (ALSPAC)
                                      A=0.18337/183 (GoNL)
                                      HGVS:

                                      19.

                                      rs1491292250 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->GTCTCAACACTTTTA [Show Flanks]
                                        Chromosome:
                                        1:217526207 (GRCh38)
                                        1:217699550 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:217526207:TAGTCTCAACACTTTTA:TAGTCTCAACACTTTTAGTCTCAACACTTTTA
                                        Gene:
                                        GPATCH2 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        TAGTCTCAACACTTTTAGTCTCAACACTTTTA=0./0 (ALFA)
                                        HGVS:

                                        20.

                                        rs1491287229 has merged into rs59348467 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                          Chromosome:
                                          1:217564056 (GRCh38)
                                          1:217737398 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:217564045:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:217564045:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:217564045:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:217564045:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:217564045:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:217564045:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:217564045:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:217564045:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:217564045:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:217564045:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:217564045:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:217564045:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217564045:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217564045:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217564045:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217564045:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217564045:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217564045:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217564045:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217564045:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217564045:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217564045:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:217564045:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                          Gene:
                                          GPATCH2 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AAAAAAAAAA=0./0 (ALFA)
                                          AAAAAAAAAAAAAAAAAAAAAAAAAA=0.004/2 (NorthernSweden)
                                          AAAAA=0.4157/2082 (1000Genomes)
                                          HGVS:
                                          NC_000001.11:g.217564056_217564071del, NC_000001.11:g.217564057_217564071del, NC_000001.11:g.217564058_217564071del, NC_000001.11:g.217564059_217564071del, NC_000001.11:g.217564060_217564071del, NC_000001.11:g.217564061_217564071del, NC_000001.11:g.217564062_217564071del, NC_000001.11:g.217564063_217564071del, NC_000001.11:g.217564064_217564071del, NC_000001.11:g.217564065_217564071del, NC_000001.11:g.217564066_217564071del, NC_000001.11:g.217564067_217564071del, NC_000001.11:g.217564068_217564071del, NC_000001.11:g.217564069_217564071del, NC_000001.11:g.217564070_217564071del, NC_000001.11:g.217564071del, NC_000001.11:g.217564071dup, NC_000001.11:g.217564070_217564071dup, NC_000001.11:g.217564069_217564071dup, NC_000001.11:g.217564067_217564071dup, NC_000001.11:g.217564057_217564071dup, NC_000001.11:g.217564055_217564071dup, NC_000001.11:g.217564046_217564071dup, NC_000001.10:g.217737398_217737413del, NC_000001.10:g.217737399_217737413del, NC_000001.10:g.217737400_217737413del, NC_000001.10:g.217737401_217737413del, NC_000001.10:g.217737402_217737413del, NC_000001.10:g.217737403_217737413del, NC_000001.10:g.217737404_217737413del, NC_000001.10:g.217737405_217737413del, NC_000001.10:g.217737406_217737413del, NC_000001.10:g.217737407_217737413del, NC_000001.10:g.217737408_217737413del, NC_000001.10:g.217737409_217737413del, NC_000001.10:g.217737410_217737413del, NC_000001.10:g.217737411_217737413del, NC_000001.10:g.217737412_217737413del, NC_000001.10:g.217737413del, NC_000001.10:g.217737413dup, NC_000001.10:g.217737412_217737413dup, NC_000001.10:g.217737411_217737413dup, NC_000001.10:g.217737409_217737413dup, NC_000001.10:g.217737399_217737413dup, NC_000001.10:g.217737397_217737413dup, NC_000001.10:g.217737388_217737413dup, NG_053034.1:g.72042_72057del, NG_053034.1:g.72043_72057del, NG_053034.1:g.72044_72057del, NG_053034.1:g.72045_72057del, NG_053034.1:g.72046_72057del, NG_053034.1:g.72047_72057del, NG_053034.1:g.72048_72057del, NG_053034.1:g.72049_72057del, NG_053034.1:g.72050_72057del, NG_053034.1:g.72051_72057del, NG_053034.1:g.72052_72057del, NG_053034.1:g.72053_72057del, NG_053034.1:g.72054_72057del, NG_053034.1:g.72055_72057del, NG_053034.1:g.72056_72057del, NG_053034.1:g.72057del, NG_053034.1:g.72057dup, NG_053034.1:g.72056_72057dup, NG_053034.1:g.72055_72057dup, NG_053034.1:g.72053_72057dup, NG_053034.1:g.72043_72057dup, NG_053034.1:g.72041_72057dup, NG_053034.1:g.72032_72057dup

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