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Items: 1 to 20 of 14169

1.

rs1491588429 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    1:173939528 (GRCh38)
    1:173908666 (GRCh37)
    Canonical SPDI:
    NC_000001.11:173939527:CA:
    Gene:
    RC3H1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.00054/9 (TOMMO)
    HGVS:

    2.

    rs1491451002 has merged into rs746086742 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
      Chromosome:
      1:173936771 (GRCh38)
      1:173905909 (GRCh37)
      Canonical SPDI:
      NC_000001.11:173936761:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:173936761:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:173936761:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:173936761:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:173936761:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:173936761:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:173936761:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:173936761:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:173936761:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:173936761:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:173936761:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
      Gene:
      RC3H1 (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTT=0./0 (ALFA)
      TTTTT=0.2222/8 (GENOME_DK)
      HGVS:
      NC_000001.11:g.173936771_173936778del, NC_000001.11:g.173936772_173936778del, NC_000001.11:g.173936773_173936778del, NC_000001.11:g.173936774_173936778del, NC_000001.11:g.173936775_173936778del, NC_000001.11:g.173936776_173936778del, NC_000001.11:g.173936777_173936778del, NC_000001.11:g.173936778del, NC_000001.11:g.173936778dup, NC_000001.11:g.173936777_173936778dup, NC_000001.11:g.173936776_173936778dup, NC_000001.10:g.173905909_173905916del, NC_000001.10:g.173905910_173905916del, NC_000001.10:g.173905911_173905916del, NC_000001.10:g.173905912_173905916del, NC_000001.10:g.173905913_173905916del, NC_000001.10:g.173905914_173905916del, NC_000001.10:g.173905915_173905916del, NC_000001.10:g.173905916del, NC_000001.10:g.173905916dup, NC_000001.10:g.173905915_173905916dup, NC_000001.10:g.173905914_173905916dup, NM_172071.4:c.*1952_*1959del, NM_172071.4:c.*1953_*1959del, NM_172071.4:c.*1954_*1959del, NM_172071.4:c.*1955_*1959del, NM_172071.4:c.*1956_*1959del, NM_172071.4:c.*1957_*1959del, NM_172071.4:c.*1958_*1959del, NM_172071.4:c.*1959del, NM_172071.4:c.*1959dup, NM_172071.4:c.*1958_*1959dup, NM_172071.4:c.*1957_*1959dup, NM_172071.3:c.*1952_*1959del, NM_172071.3:c.*1953_*1959del, NM_172071.3:c.*1954_*1959del, NM_172071.3:c.*1955_*1959del, NM_172071.3:c.*1956_*1959del, NM_172071.3:c.*1957_*1959del, NM_172071.3:c.*1958_*1959del, NM_172071.3:c.*1959del, NM_172071.3:c.*1959dup, NM_172071.3:c.*1958_*1959dup, NM_172071.3:c.*1957_*1959dup, NM_172071.2:c.*1952_*1959del, NM_172071.2:c.*1953_*1959del, NM_172071.2:c.*1954_*1959del, NM_172071.2:c.*1955_*1959del, NM_172071.2:c.*1956_*1959del, NM_172071.2:c.*1957_*1959del, NM_172071.2:c.*1958_*1959del, NM_172071.2:c.*1959del, NM_172071.2:c.*1959dup, NM_172071.2:c.*1958_*1959dup, NM_172071.2:c.*1957_*1959dup, XM_005244921.4:c.*1952_*1959del, XM_005244921.4:c.*1953_*1959del, XM_005244921.4:c.*1954_*1959del, XM_005244921.4:c.*1955_*1959del, XM_005244921.4:c.*1956_*1959del, XM_005244921.4:c.*1957_*1959del, XM_005244921.4:c.*1958_*1959del, XM_005244921.4:c.*1959del, XM_005244921.4:c.*1959dup, XM_005244921.4:c.*1958_*1959dup, XM_005244921.4:c.*1957_*1959dup, XM_005244921.3:c.*1952_*1959del, XM_005244921.3:c.*1953_*1959del, XM_005244921.3:c.*1954_*1959del, XM_005244921.3:c.*1955_*1959del, XM_005244921.3:c.*1956_*1959del, XM_005244921.3:c.*1957_*1959del, XM_005244921.3:c.*1958_*1959del, XM_005244921.3:c.*1959del, XM_005244921.3:c.*1959dup, XM_005244921.3:c.*1958_*1959dup, XM_005244921.3:c.*1957_*1959dup, XM_047447089.1:c.*1952_*1959del, XM_047447089.1:c.*1953_*1959del, XM_047447089.1:c.*1954_*1959del, XM_047447089.1:c.*1955_*1959del, XM_047447089.1:c.*1956_*1959del, XM_047447089.1:c.*1957_*1959del, XM_047447089.1:c.*1958_*1959del, XM_047447089.1:c.*1959del, XM_047447089.1:c.*1959dup, XM_047447089.1:c.*1958_*1959dup, XM_047447089.1:c.*1957_*1959dup, XM_047447092.1:c.*1952_*1959del, XM_047447092.1:c.*1953_*1959del, XM_047447092.1:c.*1954_*1959del, XM_047447092.1:c.*1955_*1959del, XM_047447092.1:c.*1956_*1959del, XM_047447092.1:c.*1957_*1959del, XM_047447092.1:c.*1958_*1959del, XM_047447092.1:c.*1959del, XM_047447092.1:c.*1959dup, XM_047447092.1:c.*1958_*1959dup, XM_047447092.1:c.*1957_*1959dup, XM_047447094.1:c.*1952_*1959del, XM_047447094.1:c.*1953_*1959del, XM_047447094.1:c.*1954_*1959del, XM_047447094.1:c.*1955_*1959del, XM_047447094.1:c.*1956_*1959del, XM_047447094.1:c.*1957_*1959del, XM_047447094.1:c.*1958_*1959del, XM_047447094.1:c.*1959del, XM_047447094.1:c.*1959dup, XM_047447094.1:c.*1958_*1959dup, XM_047447094.1:c.*1957_*1959dup, XM_047447097.1:c.*1952_*1959del, XM_047447097.1:c.*1953_*1959del, XM_047447097.1:c.*1954_*1959del, XM_047447097.1:c.*1955_*1959del, XM_047447097.1:c.*1956_*1959del, XM_047447097.1:c.*1957_*1959del, XM_047447097.1:c.*1958_*1959del, XM_047447097.1:c.*1959del, XM_047447097.1:c.*1959dup, XM_047447097.1:c.*1958_*1959dup, XM_047447097.1:c.*1957_*1959dup, XM_047447101.1:c.*1952_*1959del, XM_047447101.1:c.*1953_*1959del, XM_047447101.1:c.*1954_*1959del, XM_047447101.1:c.*1955_*1959del, XM_047447101.1:c.*1956_*1959del, XM_047447101.1:c.*1957_*1959del, XM_047447101.1:c.*1958_*1959del, XM_047447101.1:c.*1959del, XM_047447101.1:c.*1959dup, XM_047447101.1:c.*1958_*1959dup, XM_047447101.1:c.*1957_*1959dup, XM_047447102.1:c.*1952_*1959del, XM_047447102.1:c.*1953_*1959del, XM_047447102.1:c.*1954_*1959del, XM_047447102.1:c.*1955_*1959del, XM_047447102.1:c.*1956_*1959del, XM_047447102.1:c.*1957_*1959del, XM_047447102.1:c.*1958_*1959del, XM_047447102.1:c.*1959del, XM_047447102.1:c.*1959dup, XM_047447102.1:c.*1958_*1959dup, XM_047447102.1:c.*1957_*1959dup, XM_047447090.1:c.*1952_*1959del, XM_047447090.1:c.*1953_*1959del, XM_047447090.1:c.*1954_*1959del, XM_047447090.1:c.*1955_*1959del, XM_047447090.1:c.*1956_*1959del, XM_047447090.1:c.*1957_*1959del, XM_047447090.1:c.*1958_*1959del, XM_047447090.1:c.*1959del, XM_047447090.1:c.*1959dup, XM_047447090.1:c.*1958_*1959dup, XM_047447090.1:c.*1957_*1959dup, XM_047447091.1:c.*1952_*1959del, XM_047447091.1:c.*1953_*1959del, XM_047447091.1:c.*1954_*1959del, XM_047447091.1:c.*1955_*1959del, XM_047447091.1:c.*1956_*1959del, XM_047447091.1:c.*1957_*1959del, XM_047447091.1:c.*1958_*1959del, XM_047447091.1:c.*1959del, XM_047447091.1:c.*1959dup, XM_047447091.1:c.*1958_*1959dup, XM_047447091.1:c.*1957_*1959dup, XM_047447103.1:c.*1952_*1959del, XM_047447103.1:c.*1953_*1959del, XM_047447103.1:c.*1954_*1959del, XM_047447103.1:c.*1955_*1959del, XM_047447103.1:c.*1956_*1959del, XM_047447103.1:c.*1957_*1959del, XM_047447103.1:c.*1958_*1959del, XM_047447103.1:c.*1959del, XM_047447103.1:c.*1959dup, XM_047447103.1:c.*1958_*1959dup, XM_047447103.1:c.*1957_*1959dup, XM_047447105.1:c.*1952_*1959del, XM_047447105.1:c.*1953_*1959del, XM_047447105.1:c.*1954_*1959del, XM_047447105.1:c.*1955_*1959del, XM_047447105.1:c.*1956_*1959del, XM_047447105.1:c.*1957_*1959del, XM_047447105.1:c.*1958_*1959del, XM_047447105.1:c.*1959del, XM_047447105.1:c.*1959dup, XM_047447105.1:c.*1958_*1959dup, XM_047447105.1:c.*1957_*1959dup, XM_047447093.1:c.*1952_*1959del, XM_047447093.1:c.*1953_*1959del, XM_047447093.1:c.*1954_*1959del, XM_047447093.1:c.*1955_*1959del, XM_047447093.1:c.*1956_*1959del, XM_047447093.1:c.*1957_*1959del, XM_047447093.1:c.*1958_*1959del, XM_047447093.1:c.*1959del, XM_047447093.1:c.*1959dup, XM_047447093.1:c.*1958_*1959dup, XM_047447093.1:c.*1957_*1959dup, XM_047447095.1:c.*1952_*1959del, XM_047447095.1:c.*1953_*1959del, XM_047447095.1:c.*1954_*1959del, XM_047447095.1:c.*1955_*1959del, XM_047447095.1:c.*1956_*1959del, XM_047447095.1:c.*1957_*1959del, XM_047447095.1:c.*1958_*1959del, XM_047447095.1:c.*1959del, XM_047447095.1:c.*1959dup, XM_047447095.1:c.*1958_*1959dup, XM_047447095.1:c.*1957_*1959dup, XM_047447096.1:c.*1952_*1959del, XM_047447096.1:c.*1953_*1959del, XM_047447096.1:c.*1954_*1959del, XM_047447096.1:c.*1955_*1959del, XM_047447096.1:c.*1956_*1959del, XM_047447096.1:c.*1957_*1959del, XM_047447096.1:c.*1958_*1959del, XM_047447096.1:c.*1959del, XM_047447096.1:c.*1959dup, XM_047447096.1:c.*1958_*1959dup, XM_047447096.1:c.*1957_*1959dup, XM_047447106.1:c.*1952_*1959del, XM_047447106.1:c.*1953_*1959del, XM_047447106.1:c.*1954_*1959del, XM_047447106.1:c.*1955_*1959del, XM_047447106.1:c.*1956_*1959del, XM_047447106.1:c.*1957_*1959del, XM_047447106.1:c.*1958_*1959del, XM_047447106.1:c.*1959del, XM_047447106.1:c.*1959dup, XM_047447106.1:c.*1958_*1959dup, XM_047447106.1:c.*1957_*1959dup, NM_001300850.1:c.*1952_*1959del, NM_001300850.1:c.*1953_*1959del, NM_001300850.1:c.*1954_*1959del, NM_001300850.1:c.*1955_*1959del, NM_001300850.1:c.*1956_*1959del, NM_001300850.1:c.*1957_*1959del, NM_001300850.1:c.*1958_*1959del, NM_001300850.1:c.*1959del, NM_001300850.1:c.*1959dup, NM_001300850.1:c.*1958_*1959dup, NM_001300850.1:c.*1957_*1959dup, XM_047447104.1:c.*1952_*1959del, XM_047447104.1:c.*1953_*1959del, XM_047447104.1:c.*1954_*1959del, XM_047447104.1:c.*1955_*1959del, XM_047447104.1:c.*1956_*1959del, XM_047447104.1:c.*1957_*1959del, XM_047447104.1:c.*1958_*1959del, XM_047447104.1:c.*1959del, XM_047447104.1:c.*1959dup, XM_047447104.1:c.*1958_*1959dup, XM_047447104.1:c.*1957_*1959dup, NM_001300851.1:c.*1952_*1959del, NM_001300851.1:c.*1953_*1959del, NM_001300851.1:c.*1954_*1959del, NM_001300851.1:c.*1955_*1959del, NM_001300851.1:c.*1956_*1959del, NM_001300851.1:c.*1957_*1959del, NM_001300851.1:c.*1958_*1959del, NM_001300851.1:c.*1959del, NM_001300851.1:c.*1959dup, NM_001300851.1:c.*1958_*1959dup, NM_001300851.1:c.*1957_*1959dup, NM_001300852.1:c.*1952_*1959del, NM_001300852.1:c.*1953_*1959del, NM_001300852.1:c.*1954_*1959del, NM_001300852.1:c.*1955_*1959del, NM_001300852.1:c.*1956_*1959del, NM_001300852.1:c.*1957_*1959del, NM_001300852.1:c.*1958_*1959del, NM_001300852.1:c.*1959del, NM_001300852.1:c.*1959dup, NM_001300852.1:c.*1958_*1959dup, NM_001300852.1:c.*1957_*1959dup

      3.

      rs1491445552 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        1:173942428 (GRCh38)
        1:173911566 (GRCh37)
        Canonical SPDI:
        NC_000001.11:173942427:CA:
        Gene:
        RC3H1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0.00008/1 (ALFA)
        HGVS:

        4.

        rs1491418573 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          TA>- [Show Flanks]
          Chromosome:
          1:173942255 (GRCh38)
          1:173911393 (GRCh37)
          Canonical SPDI:
          NC_000001.11:173942254:TA:
          Gene:
          RC3H1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          HGVS:

          5.

          rs1491359754 has merged into rs1474523998 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GA>- [Show Flanks]
            Chromosome:
            1:173994022 (GRCh38)
            1:173963160 (GRCh37)
            Canonical SPDI:
            NC_000001.11:173994020:AGA:A
            Gene:
            RC3H1 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.00017/2 (ALFA)
            -=0.00216/8 (TWINSUK)
            HGVS:

            6.

            rs1491358115 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->CAA [Show Flanks]
              Chromosome:
              1:173944175 (GRCh38)
              1:173913314 (GRCh37)
              Canonical SPDI:
              NC_000001.11:173944175:AA:AACAA
              Gene:
              RC3H1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              AACAA=0./0 (ALFA)
              HGVS:

              7.

              rs1491347645 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                GT>- [Show Flanks]
                Chromosome:
                1:173989710 (GRCh38)
                1:173958848 (GRCh37)
                Canonical SPDI:
                NC_000001.11:173989709:GT:
                Gene:
                RC3H1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0./0 (ALFA)
                HGVS:

                8.

                rs1491346143 has merged into rs74263815 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                  Chromosome:
                  1:173952173 (GRCh38)
                  1:173921311 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:173952163:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:173952163:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:173952163:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:173952163:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:173952163:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:173952163:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:173952163:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:173952163:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:173952163:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:173952163:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:173952163:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:173952163:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:173952163:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:173952163:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                  Gene:
                  RC3H1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAAAA=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  A=0.069444/5 (1000Genomes)
                  HGVS:
                  NC_000001.11:g.173952173_173952177del, NC_000001.11:g.173952175_173952177del, NC_000001.11:g.173952176_173952177del, NC_000001.11:g.173952177del, NC_000001.11:g.173952177dup, NC_000001.11:g.173952176_173952177dup, NC_000001.11:g.173952175_173952177dup, NC_000001.11:g.173952169_173952177dup, NC_000001.11:g.173952167_173952177dup, NC_000001.11:g.173952177_173952178insAAAAAAAAAAAAAAAAA, NC_000001.11:g.173952177_173952178insAAAAAAAAAAAAAAAAAA, NC_000001.11:g.173952177_173952178insAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.173952177_173952178insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.173952177_173952178insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.173921311_173921315del, NC_000001.10:g.173921313_173921315del, NC_000001.10:g.173921314_173921315del, NC_000001.10:g.173921315del, NC_000001.10:g.173921315dup, NC_000001.10:g.173921314_173921315dup, NC_000001.10:g.173921313_173921315dup, NC_000001.10:g.173921307_173921315dup, NC_000001.10:g.173921305_173921315dup, NC_000001.10:g.173921315_173921316insAAAAAAAAAAAAAAAAA, NC_000001.10:g.173921315_173921316insAAAAAAAAAAAAAAAAAA, NC_000001.10:g.173921315_173921316insAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.173921315_173921316insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.173921315_173921316insAAAAAAAAAAAAAAAAAAAAAAAAAA

                  9.

                  rs1491275575 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    TA>- [Show Flanks]
                    Chromosome:
                    1:173961563 (GRCh38)
                    1:173930701 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:173961562:TA:
                    Gene:
                    RC3H1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    -=0.000025/3 (GnomAD)
                    HGVS:

                    10.

                    rs1491271930 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->A,AAA [Show Flanks]
                      Chromosome:
                      1:173955223 (GRCh38)
                      1:173924362 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:173955223:A:AA,NC_000001.11:173955223:A:AAAA
                      Gene:
                      RC3H1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      AA=0.00025/3 (ALFA)
                      HGVS:

                      11.

                      rs1491266419 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CA>- [Show Flanks]
                        Chromosome:
                        1:173955225 (GRCh38)
                        1:173924363 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:173955222:CACA:CA
                        Gene:
                        RC3H1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        CACA=0.00034/4 (ALFA)
                        HGVS:

                        12.

                        rs1491243367 has merged into rs149177436 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          C>-,CC,CCC,CCCC [Show Flanks]
                          Chromosome:
                          1:173951323 (GRCh38)
                          1:173920461 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:173951322:CCCCCCCCC:CCCCCCCC,NC_000001.11:173951322:CCCCCCCCC:CCCCCCCCCC,NC_000001.11:173951322:CCCCCCCCC:CCCCCCCCCCC,NC_000001.11:173951322:CCCCCCCCC:CCCCCCCCCCCC
                          Gene:
                          RC3H1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          CCCCCCCCCCCC=0./0 (ALFA)
                          -=0.017998/4764 (TOPMED)
                          -=0.022015/92 (1000Genomes)
                          -=0.096875/434 (Estonian)
                          -=0.106526/395 (TWINSUK)
                          -=0.113908/439 (ALSPAC)
                          -=0.126253/126 (GoNL)
                          -=0.128333/77 (NorthernSweden)
                          -=0.25/10 (GENOME_DK)
                          HGVS:

                          13.

                          rs1491232449 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            GA>- [Show Flanks]
                            Chromosome:
                            1:173952154 (GRCh38)
                            1:173921292 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:173952152:AGA:A
                            Gene:
                            RC3H1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            -=0.000006/1 (GnomAD_exomes)
                            -=0.00002/2 (ExAC)
                            HGVS:

                            14.

                            rs1491205531 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              TA>- [Show Flanks]
                              Chromosome:
                              1:173952402 (GRCh38)
                              1:173921540 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:173952401:TA:
                              Gene:
                              RC3H1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              -=0./0 (ALFA)
                              -=0.00004/2 (GnomAD)
                              HGVS:

                              15.

                              rs1491189696 has merged into rs35197109 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AAAAAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                Chromosome:
                                1:173952413 (GRCh38)
                                1:173921551 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:173952402:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:173952402:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:173952402:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:173952402:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:173952402:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:173952402:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:173952402:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:173952402:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:173952402:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:173952402:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:173952402:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:173952402:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:173952402:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:173952402:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:173952402:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:173952402:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                Gene:
                                RC3H1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAAAAAAAAA=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                -=0.031746/4 (NorthernSweden)
                                -=0.383986/1923 (1000Genomes)
                                HGVS:
                                NC_000001.11:g.173952413_173952422del, NC_000001.11:g.173952414_173952422del, NC_000001.11:g.173952418_173952422del, NC_000001.11:g.173952419_173952422del, NC_000001.11:g.173952420_173952422del, NC_000001.11:g.173952421_173952422del, NC_000001.11:g.173952422del, NC_000001.11:g.173952422dup, NC_000001.11:g.173952421_173952422dup, NC_000001.11:g.173952420_173952422dup, NC_000001.11:g.173952419_173952422dup, NC_000001.11:g.173952418_173952422dup, NC_000001.11:g.173952417_173952422dup, NC_000001.11:g.173952416_173952422dup, NC_000001.11:g.173952415_173952422dup, NC_000001.11:g.173952410_173952422dup, NC_000001.10:g.173921551_173921560del, NC_000001.10:g.173921552_173921560del, NC_000001.10:g.173921556_173921560del, NC_000001.10:g.173921557_173921560del, NC_000001.10:g.173921558_173921560del, NC_000001.10:g.173921559_173921560del, NC_000001.10:g.173921560del, NC_000001.10:g.173921560dup, NC_000001.10:g.173921559_173921560dup, NC_000001.10:g.173921558_173921560dup, NC_000001.10:g.173921557_173921560dup, NC_000001.10:g.173921556_173921560dup, NC_000001.10:g.173921555_173921560dup, NC_000001.10:g.173921554_173921560dup, NC_000001.10:g.173921553_173921560dup, NC_000001.10:g.173921548_173921560dup

                                16.

                                rs1491187512 has merged into rs201962234 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
                                  Chromosome:
                                  1:173944188 (GRCh38)
                                  1:173913326 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:173944174:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:173944174:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:173944174:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:173944174:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:173944174:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:173944174:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:173944174:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:173944174:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:173944174:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                  Gene:
                                  RC3H1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AAAAAAAAAAAAAAAA=0./0 (ALFA)
                                  AAAAAAAAAA=0.00185/1 (NorthernSweden)
                                  -=0.1244/623 (1000Genomes)
                                  HGVS:

                                  17.

                                  rs1491178455 has merged into rs34983635 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    GG>-,G,GGG,GGGG,GGGGG,GGGGGG [Show Flanks]
                                    Chromosome:
                                    1:173949139 (GRCh38)
                                    1:173918277 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGG,NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGG,NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGGGGGGG
                                    Gene:
                                    RC3H1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GGGGGGGGGG=0./0 (ALFA)
                                    -=0.2632/10 (GENOME_DK)
                                    -=0.2696/1350 (1000Genomes)
                                    HGVS:

                                    18.

                                    rs1491144329 [Homo sapiens]
                                      Variant type:
                                      INS
                                      Alleles:
                                      ->TA,TAA,TAAA,TAAAA,TTA,TTTA,TTTTA [Show Flanks]
                                      Chromosome:
                                      1:173936778 (GRCh38)
                                      1:173905917 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:173936778::TA,NC_000001.11:173936778::TAA,NC_000001.11:173936778::TAAA,NC_000001.11:173936778::TAAAA,NC_000001.11:173936778::TTA,NC_000001.11:173936778::TTTA,NC_000001.11:173936778::TTTTA
                                      Gene:
                                      RC3H1 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TAA=0./0 (ALFA)
                                      HGVS:
                                      NC_000001.11:g.173936778_173936779insTA, NC_000001.11:g.173936778_173936779insTAA, NC_000001.11:g.173936778_173936779insTAAA, NC_000001.11:g.173936778_173936779insTAAAA, NC_000001.11:g.173936778_173936779insTTA, NC_000001.11:g.173936778_173936779insTTTA, NC_000001.11:g.173936778_173936779insTTTTA, NC_000001.10:g.173905916_173905917insTA, NC_000001.10:g.173905916_173905917insTAA, NC_000001.10:g.173905916_173905917insTAAA, NC_000001.10:g.173905916_173905917insTAAAA, NC_000001.10:g.173905916_173905917insTTA, NC_000001.10:g.173905916_173905917insTTTA, NC_000001.10:g.173905916_173905917insTTTTA, NM_172071.4:c.*1942_*1943insTA, NM_172071.4:c.*1942_*1943insTTA, NM_172071.4:c.*1942_*1943insTTTA, NM_172071.4:c.*1942_*1943insTTTTA, NM_172071.4:c.*1942_*1943insTAA, NM_172071.4:c.*1942_*1943insTAAA, NM_172071.4:c.*1942_*1943insTAAAA, NM_172071.3:c.*1942_*1943insTA, NM_172071.3:c.*1942_*1943insTTA, NM_172071.3:c.*1942_*1943insTTTA, NM_172071.3:c.*1942_*1943insTTTTA, NM_172071.3:c.*1942_*1943insTAA, NM_172071.3:c.*1942_*1943insTAAA, NM_172071.3:c.*1942_*1943insTAAAA, NM_172071.2:c.*1942_*1943insTA, NM_172071.2:c.*1942_*1943insTTA, NM_172071.2:c.*1942_*1943insTTTA, NM_172071.2:c.*1942_*1943insTTTTA, NM_172071.2:c.*1942_*1943insTAA, NM_172071.2:c.*1942_*1943insTAAA, NM_172071.2:c.*1942_*1943insTAAAA, XM_005244921.4:c.*1942_*1943insTA, XM_005244921.4:c.*1942_*1943insTTA, XM_005244921.4:c.*1942_*1943insTTTA, XM_005244921.4:c.*1942_*1943insTTTTA, XM_005244921.4:c.*1942_*1943insTAA, XM_005244921.4:c.*1942_*1943insTAAA, XM_005244921.4:c.*1942_*1943insTAAAA, XM_005244921.3:c.*1942_*1943insTA, XM_005244921.3:c.*1942_*1943insTTA, XM_005244921.3:c.*1942_*1943insTTTA, XM_005244921.3:c.*1942_*1943insTTTTA, XM_005244921.3:c.*1942_*1943insTAA, XM_005244921.3:c.*1942_*1943insTAAA, XM_005244921.3:c.*1942_*1943insTAAAA, XM_047447089.1:c.*1942_*1943insTA, XM_047447089.1:c.*1942_*1943insTTA, XM_047447089.1:c.*1942_*1943insTTTA, XM_047447089.1:c.*1942_*1943insTTTTA, XM_047447089.1:c.*1942_*1943insTAA, XM_047447089.1:c.*1942_*1943insTAAA, XM_047447089.1:c.*1942_*1943insTAAAA, XM_047447092.1:c.*1942_*1943insTA, XM_047447092.1:c.*1942_*1943insTTA, XM_047447092.1:c.*1942_*1943insTTTA, XM_047447092.1:c.*1942_*1943insTTTTA, XM_047447092.1:c.*1942_*1943insTAA, XM_047447092.1:c.*1942_*1943insTAAA, XM_047447092.1:c.*1942_*1943insTAAAA, XM_047447094.1:c.*1942_*1943insTA, XM_047447094.1:c.*1942_*1943insTTA, XM_047447094.1:c.*1942_*1943insTTTA, XM_047447094.1:c.*1942_*1943insTTTTA, XM_047447094.1:c.*1942_*1943insTAA, XM_047447094.1:c.*1942_*1943insTAAA, XM_047447094.1:c.*1942_*1943insTAAAA, XM_047447097.1:c.*1942_*1943insTA, XM_047447097.1:c.*1942_*1943insTTA, XM_047447097.1:c.*1942_*1943insTTTA, XM_047447097.1:c.*1942_*1943insTTTTA, XM_047447097.1:c.*1942_*1943insTAA, XM_047447097.1:c.*1942_*1943insTAAA, XM_047447097.1:c.*1942_*1943insTAAAA, XM_047447101.1:c.*1942_*1943insTA, XM_047447101.1:c.*1942_*1943insTTA, XM_047447101.1:c.*1942_*1943insTTTA, XM_047447101.1:c.*1942_*1943insTTTTA, XM_047447101.1:c.*1942_*1943insTAA, XM_047447101.1:c.*1942_*1943insTAAA, XM_047447101.1:c.*1942_*1943insTAAAA, XM_047447102.1:c.*1942_*1943insTA, XM_047447102.1:c.*1942_*1943insTTA, XM_047447102.1:c.*1942_*1943insTTTA, XM_047447102.1:c.*1942_*1943insTTTTA, XM_047447102.1:c.*1942_*1943insTAA, XM_047447102.1:c.*1942_*1943insTAAA, XM_047447102.1:c.*1942_*1943insTAAAA, XM_047447090.1:c.*1942_*1943insTA, XM_047447090.1:c.*1942_*1943insTTA, XM_047447090.1:c.*1942_*1943insTTTA, XM_047447090.1:c.*1942_*1943insTTTTA, XM_047447090.1:c.*1942_*1943insTAA, XM_047447090.1:c.*1942_*1943insTAAA, XM_047447090.1:c.*1942_*1943insTAAAA, XM_047447091.1:c.*1942_*1943insTA, XM_047447091.1:c.*1942_*1943insTTA, XM_047447091.1:c.*1942_*1943insTTTA, XM_047447091.1:c.*1942_*1943insTTTTA, XM_047447091.1:c.*1942_*1943insTAA, XM_047447091.1:c.*1942_*1943insTAAA, XM_047447091.1:c.*1942_*1943insTAAAA, XM_047447103.1:c.*1942_*1943insTA, XM_047447103.1:c.*1942_*1943insTTA, XM_047447103.1:c.*1942_*1943insTTTA, XM_047447103.1:c.*1942_*1943insTTTTA, XM_047447103.1:c.*1942_*1943insTAA, XM_047447103.1:c.*1942_*1943insTAAA, XM_047447103.1:c.*1942_*1943insTAAAA, XM_047447105.1:c.*1942_*1943insTA, XM_047447105.1:c.*1942_*1943insTTA, XM_047447105.1:c.*1942_*1943insTTTA, XM_047447105.1:c.*1942_*1943insTTTTA, XM_047447105.1:c.*1942_*1943insTAA, XM_047447105.1:c.*1942_*1943insTAAA, XM_047447105.1:c.*1942_*1943insTAAAA, XM_047447093.1:c.*1942_*1943insTA, XM_047447093.1:c.*1942_*1943insTTA, XM_047447093.1:c.*1942_*1943insTTTA, XM_047447093.1:c.*1942_*1943insTTTTA, XM_047447093.1:c.*1942_*1943insTAA, XM_047447093.1:c.*1942_*1943insTAAA, XM_047447093.1:c.*1942_*1943insTAAAA, XM_047447095.1:c.*1942_*1943insTA, XM_047447095.1:c.*1942_*1943insTTA, XM_047447095.1:c.*1942_*1943insTTTA, XM_047447095.1:c.*1942_*1943insTTTTA, XM_047447095.1:c.*1942_*1943insTAA, XM_047447095.1:c.*1942_*1943insTAAA, XM_047447095.1:c.*1942_*1943insTAAAA, XM_047447096.1:c.*1942_*1943insTA, XM_047447096.1:c.*1942_*1943insTTA, XM_047447096.1:c.*1942_*1943insTTTA, XM_047447096.1:c.*1942_*1943insTTTTA, XM_047447096.1:c.*1942_*1943insTAA, XM_047447096.1:c.*1942_*1943insTAAA, XM_047447096.1:c.*1942_*1943insTAAAA, XM_047447106.1:c.*1942_*1943insTA, XM_047447106.1:c.*1942_*1943insTTA, XM_047447106.1:c.*1942_*1943insTTTA, XM_047447106.1:c.*1942_*1943insTTTTA, XM_047447106.1:c.*1942_*1943insTAA, XM_047447106.1:c.*1942_*1943insTAAA, XM_047447106.1:c.*1942_*1943insTAAAA, NM_001300850.1:c.*1942_*1943insTA, NM_001300850.1:c.*1942_*1943insTTA, NM_001300850.1:c.*1942_*1943insTTTA, NM_001300850.1:c.*1942_*1943insTTTTA, NM_001300850.1:c.*1942_*1943insTAA, NM_001300850.1:c.*1942_*1943insTAAA, NM_001300850.1:c.*1942_*1943insTAAAA, XM_047447104.1:c.*1942_*1943insTA, XM_047447104.1:c.*1942_*1943insTTA, XM_047447104.1:c.*1942_*1943insTTTA, XM_047447104.1:c.*1942_*1943insTTTTA, XM_047447104.1:c.*1942_*1943insTAA, XM_047447104.1:c.*1942_*1943insTAAA, XM_047447104.1:c.*1942_*1943insTAAAA, NM_001300851.1:c.*1942_*1943insTA, NM_001300851.1:c.*1942_*1943insTTA, NM_001300851.1:c.*1942_*1943insTTTA, NM_001300851.1:c.*1942_*1943insTTTTA, NM_001300851.1:c.*1942_*1943insTAA, NM_001300851.1:c.*1942_*1943insTAAA, NM_001300851.1:c.*1942_*1943insTAAAA, NM_001300852.1:c.*1942_*1943insTA, NM_001300852.1:c.*1942_*1943insTTA, NM_001300852.1:c.*1942_*1943insTTTA, NM_001300852.1:c.*1942_*1943insTTTTA, NM_001300852.1:c.*1942_*1943insTAA, NM_001300852.1:c.*1942_*1943insTAAA, NM_001300852.1:c.*1942_*1943insTAAAA

                                      19.

                                      rs1491143489 [Homo sapiens]
                                        Variant type:
                                        INS
                                        Alleles:
                                        ->A,AA,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA [Show Flanks]
                                        Chromosome:
                                        1:173936762 (GRCh38)
                                        1:173905901 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:173936762::A,NC_000001.11:173936762::AA,NC_000001.11:173936762::ATA,NC_000001.11:173936762::ATATA,NC_000001.11:173936762::ATATATA,NC_000001.11:173936762::ATATATATA,NC_000001.11:173936762::ATATATATATA
                                        Gene:
                                        RC3H1 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AA=0./0 (ALFA)
                                        A=0.00814/13 (Korea1K)
                                        HGVS:
                                        NC_000001.11:g.173936762_173936763insA, NC_000001.11:g.173936762_173936763insAA, NC_000001.11:g.173936762_173936763insATA, NC_000001.11:g.173936762_173936763insATATA, NC_000001.11:g.173936762_173936763insATATATA, NC_000001.11:g.173936762_173936763insATATATATA, NC_000001.11:g.173936762_173936763insATATATATATA, NC_000001.10:g.173905900_173905901insA, NC_000001.10:g.173905900_173905901insAA, NC_000001.10:g.173905900_173905901insATA, NC_000001.10:g.173905900_173905901insATATA, NC_000001.10:g.173905900_173905901insATATATA, NC_000001.10:g.173905900_173905901insATATATATA, NC_000001.10:g.173905900_173905901insATATATATATA, NM_172071.4:c.*1958_*1959insT, NM_172071.4:c.*1958_*1959insTT, NM_172071.4:c.*1958_*1959insTAT, NM_172071.4:c.*1958_*1959insTATAT, NM_172071.4:c.*1958_*1959insTATATAT, NM_172071.4:c.*1958_*1959insTATATATAT, NM_172071.4:c.*1958_*1959insTATATATATAT, NM_172071.3:c.*1958_*1959insT, NM_172071.3:c.*1958_*1959insTT, NM_172071.3:c.*1958_*1959insTAT, NM_172071.3:c.*1958_*1959insTATAT, NM_172071.3:c.*1958_*1959insTATATAT, NM_172071.3:c.*1958_*1959insTATATATAT, NM_172071.3:c.*1958_*1959insTATATATATAT, NM_172071.2:c.*1958_*1959insT, NM_172071.2:c.*1958_*1959insTT, NM_172071.2:c.*1958_*1959insTAT, NM_172071.2:c.*1958_*1959insTATAT, NM_172071.2:c.*1958_*1959insTATATAT, NM_172071.2:c.*1958_*1959insTATATATAT, NM_172071.2:c.*1958_*1959insTATATATATAT, XM_005244921.4:c.*1958_*1959insT, XM_005244921.4:c.*1958_*1959insTT, XM_005244921.4:c.*1958_*1959insTAT, XM_005244921.4:c.*1958_*1959insTATAT, XM_005244921.4:c.*1958_*1959insTATATAT, XM_005244921.4:c.*1958_*1959insTATATATAT, XM_005244921.4:c.*1958_*1959insTATATATATAT, XM_005244921.3:c.*1958_*1959insT, XM_005244921.3:c.*1958_*1959insTT, XM_005244921.3:c.*1958_*1959insTAT, XM_005244921.3:c.*1958_*1959insTATAT, XM_005244921.3:c.*1958_*1959insTATATAT, XM_005244921.3:c.*1958_*1959insTATATATAT, XM_005244921.3:c.*1958_*1959insTATATATATAT, XM_047447089.1:c.*1958_*1959insT, XM_047447089.1:c.*1958_*1959insTT, XM_047447089.1:c.*1958_*1959insTAT, XM_047447089.1:c.*1958_*1959insTATAT, XM_047447089.1:c.*1958_*1959insTATATAT, XM_047447089.1:c.*1958_*1959insTATATATAT, XM_047447089.1:c.*1958_*1959insTATATATATAT, XM_047447092.1:c.*1958_*1959insT, XM_047447092.1:c.*1958_*1959insTT, XM_047447092.1:c.*1958_*1959insTAT, XM_047447092.1:c.*1958_*1959insTATAT, XM_047447092.1:c.*1958_*1959insTATATAT, XM_047447092.1:c.*1958_*1959insTATATATAT, XM_047447092.1:c.*1958_*1959insTATATATATAT, XM_047447094.1:c.*1958_*1959insT, XM_047447094.1:c.*1958_*1959insTT, XM_047447094.1:c.*1958_*1959insTAT, XM_047447094.1:c.*1958_*1959insTATAT, XM_047447094.1:c.*1958_*1959insTATATAT, XM_047447094.1:c.*1958_*1959insTATATATAT, XM_047447094.1:c.*1958_*1959insTATATATATAT, XM_047447097.1:c.*1958_*1959insT, XM_047447097.1:c.*1958_*1959insTT, XM_047447097.1:c.*1958_*1959insTAT, XM_047447097.1:c.*1958_*1959insTATAT, XM_047447097.1:c.*1958_*1959insTATATAT, XM_047447097.1:c.*1958_*1959insTATATATAT, XM_047447097.1:c.*1958_*1959insTATATATATAT, XM_047447101.1:c.*1958_*1959insT, XM_047447101.1:c.*1958_*1959insTT, XM_047447101.1:c.*1958_*1959insTAT, XM_047447101.1:c.*1958_*1959insTATAT, XM_047447101.1:c.*1958_*1959insTATATAT, XM_047447101.1:c.*1958_*1959insTATATATAT, XM_047447101.1:c.*1958_*1959insTATATATATAT, XM_047447102.1:c.*1958_*1959insT, XM_047447102.1:c.*1958_*1959insTT, XM_047447102.1:c.*1958_*1959insTAT, XM_047447102.1:c.*1958_*1959insTATAT, XM_047447102.1:c.*1958_*1959insTATATAT, XM_047447102.1:c.*1958_*1959insTATATATAT, XM_047447102.1:c.*1958_*1959insTATATATATAT, XM_047447090.1:c.*1958_*1959insT, XM_047447090.1:c.*1958_*1959insTT, XM_047447090.1:c.*1958_*1959insTAT, XM_047447090.1:c.*1958_*1959insTATAT, XM_047447090.1:c.*1958_*1959insTATATAT, XM_047447090.1:c.*1958_*1959insTATATATAT, XM_047447090.1:c.*1958_*1959insTATATATATAT, XM_047447091.1:c.*1958_*1959insT, XM_047447091.1:c.*1958_*1959insTT, XM_047447091.1:c.*1958_*1959insTAT, XM_047447091.1:c.*1958_*1959insTATAT, XM_047447091.1:c.*1958_*1959insTATATAT, XM_047447091.1:c.*1958_*1959insTATATATAT, XM_047447091.1:c.*1958_*1959insTATATATATAT, XM_047447103.1:c.*1958_*1959insT, XM_047447103.1:c.*1958_*1959insTT, XM_047447103.1:c.*1958_*1959insTAT, XM_047447103.1:c.*1958_*1959insTATAT, XM_047447103.1:c.*1958_*1959insTATATAT, XM_047447103.1:c.*1958_*1959insTATATATAT, XM_047447103.1:c.*1958_*1959insTATATATATAT, XM_047447105.1:c.*1958_*1959insT, XM_047447105.1:c.*1958_*1959insTT, XM_047447105.1:c.*1958_*1959insTAT, XM_047447105.1:c.*1958_*1959insTATAT, XM_047447105.1:c.*1958_*1959insTATATAT, XM_047447105.1:c.*1958_*1959insTATATATAT, XM_047447105.1:c.*1958_*1959insTATATATATAT, XM_047447093.1:c.*1958_*1959insT, XM_047447093.1:c.*1958_*1959insTT, XM_047447093.1:c.*1958_*1959insTAT, XM_047447093.1:c.*1958_*1959insTATAT, XM_047447093.1:c.*1958_*1959insTATATAT, XM_047447093.1:c.*1958_*1959insTATATATAT, XM_047447093.1:c.*1958_*1959insTATATATATAT, XM_047447095.1:c.*1958_*1959insT, XM_047447095.1:c.*1958_*1959insTT, XM_047447095.1:c.*1958_*1959insTAT, XM_047447095.1:c.*1958_*1959insTATAT, XM_047447095.1:c.*1958_*1959insTATATAT, XM_047447095.1:c.*1958_*1959insTATATATAT, XM_047447095.1:c.*1958_*1959insTATATATATAT, XM_047447096.1:c.*1958_*1959insT, XM_047447096.1:c.*1958_*1959insTT, XM_047447096.1:c.*1958_*1959insTAT, XM_047447096.1:c.*1958_*1959insTATAT, XM_047447096.1:c.*1958_*1959insTATATAT, XM_047447096.1:c.*1958_*1959insTATATATAT, XM_047447096.1:c.*1958_*1959insTATATATATAT, XM_047447106.1:c.*1958_*1959insT, XM_047447106.1:c.*1958_*1959insTT, XM_047447106.1:c.*1958_*1959insTAT, XM_047447106.1:c.*1958_*1959insTATAT, XM_047447106.1:c.*1958_*1959insTATATAT, XM_047447106.1:c.*1958_*1959insTATATATAT, XM_047447106.1:c.*1958_*1959insTATATATATAT, NM_001300850.1:c.*1958_*1959insT, NM_001300850.1:c.*1958_*1959insTT, NM_001300850.1:c.*1958_*1959insTAT, NM_001300850.1:c.*1958_*1959insTATAT, NM_001300850.1:c.*1958_*1959insTATATAT, NM_001300850.1:c.*1958_*1959insTATATATAT, NM_001300850.1:c.*1958_*1959insTATATATATAT, XM_047447104.1:c.*1958_*1959insT, XM_047447104.1:c.*1958_*1959insTT, XM_047447104.1:c.*1958_*1959insTAT, XM_047447104.1:c.*1958_*1959insTATAT, XM_047447104.1:c.*1958_*1959insTATATAT, XM_047447104.1:c.*1958_*1959insTATATATAT, XM_047447104.1:c.*1958_*1959insTATATATATAT, NM_001300851.1:c.*1958_*1959insT, NM_001300851.1:c.*1958_*1959insTT, NM_001300851.1:c.*1958_*1959insTAT, NM_001300851.1:c.*1958_*1959insTATAT, NM_001300851.1:c.*1958_*1959insTATATAT, NM_001300851.1:c.*1958_*1959insTATATATAT, NM_001300851.1:c.*1958_*1959insTATATATATAT, NM_001300852.1:c.*1958_*1959insT, NM_001300852.1:c.*1958_*1959insTT, NM_001300852.1:c.*1958_*1959insTAT, NM_001300852.1:c.*1958_*1959insTATAT, NM_001300852.1:c.*1958_*1959insTATATAT, NM_001300852.1:c.*1958_*1959insTATATATAT, NM_001300852.1:c.*1958_*1959insTATATATATAT

                                        20.

                                        rs1491141717 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          TG>- [Show Flanks]
                                          Chromosome:
                                          1:173949129 (GRCh38)
                                          1:173918267 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:173949128:TG:
                                          Gene:
                                          RC3H1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          -=0./0 (ALFA)
                                          -=0.00005/3 (GnomAD)
                                          HGVS:

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