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1.

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

    2.

    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

      3.

      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

        4.

        rs1491117792 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          TA>- [Show Flanks]
          Chromosome:
          1:173936778 (GRCh38)
          1:173905916 (GRCh37)
          Canonical SPDI:
          NC_000001.11:173936777:TA:
          Gene:
          RC3H1 (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0.00059/7 (ALFA)
          -=0.00021/19 (GnomAD)
          -=0.00124/21 (TOMMO)
          HGVS:
          NC_000001.11:g.173936778_173936779del, NC_000001.10:g.173905916_173905917del, NM_172071.4:c.*1942_*1943del, NM_172071.3:c.*1942_*1943del, NM_172071.2:c.*1942_*1943del, XM_005244921.4:c.*1942_*1943del, XM_005244921.3:c.*1942_*1943del, XM_047447089.1:c.*1942_*1943del, XM_047447092.1:c.*1942_*1943del, XM_047447094.1:c.*1942_*1943del, XM_047447097.1:c.*1942_*1943del, XM_047447101.1:c.*1942_*1943del, XM_047447102.1:c.*1942_*1943del, XM_047447090.1:c.*1942_*1943del, XM_047447091.1:c.*1942_*1943del, XM_047447103.1:c.*1942_*1943del, XM_047447105.1:c.*1942_*1943del, XM_047447093.1:c.*1942_*1943del, XM_047447095.1:c.*1942_*1943del, XM_047447096.1:c.*1942_*1943del, XM_047447106.1:c.*1942_*1943del, NM_001300850.1:c.*1942_*1943del, XM_047447104.1:c.*1942_*1943del, NM_001300851.1:c.*1942_*1943del, NM_001300852.1:c.*1942_*1943del

          5.

          rs1490747527 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TCT>- [Show Flanks]
            Chromosome:
            1:173983570 (GRCh38)
            1:173952708 (GRCh37)
            Canonical SPDI:
            NC_000001.11:173983561:CTTCTTCTTCT:CTTCTTCT
            Gene:
            RC3H1 (Varview)
            Functional Consequence:
            inframe_deletion,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            CTTCTTCT=0./0 (ALFA)
            -=0.000008/2 (TOPMED)
            HGVS:
            NC_000001.11:g.173983564TCT[2], NC_000001.10:g.173952702TCT[2], NM_172071.4:c.440AAG[2], NM_172071.3:c.440AAG[2], NM_172071.2:c.440AAG[2], XM_005244921.4:c.440AAG[2], XM_005244921.3:c.440AAG[2], XM_005244921.2:c.440AAG[2], XM_005244921.1:c.440AAG[2], XM_047447089.1:c.440AAG[2], XM_047447092.1:c.440AAG[2], XM_047447094.1:c.440AAG[2], XM_047447097.1:c.440AAG[2], XM_047447101.1:c.440AAG[2], XM_047447102.1:c.440AAG[2], XM_047447090.1:c.440AAG[2], XM_047447091.1:c.440AAG[2], XM_047447103.1:c.440AAG[2], XM_047447105.1:c.440AAG[2], XM_047447093.1:c.440AAG[2], XM_047447095.1:c.440AAG[2], XM_047447096.1:c.440AAG[2], XM_047447106.1:c.440AAG[2], NM_001300850.1:c.440AAG[2], XM_047447104.1:c.440AAG[2], NM_001300851.1:c.440AAG[2], NM_001300852.1:c.440AAG[2], NP_742068.1:p.Glu149del, XP_005244978.1:p.Glu149del, XP_047303045.1:p.Glu149del, XP_047303048.1:p.Glu149del, XP_047303050.1:p.Glu149del, XP_047303053.1:p.Glu149del, XP_047303057.1:p.Glu149del, XP_047303058.1:p.Glu149del, XP_047303046.1:p.Glu149del, XP_047303047.1:p.Glu149del, XP_047303059.1:p.Glu149del, XP_047303061.1:p.Glu149del, XP_047303049.1:p.Glu149del, XP_047303051.1:p.Glu149del, XP_047303052.1:p.Glu149del, XP_047303062.1:p.Glu149del, NP_001287779.1:p.Glu149del, XP_047303060.1:p.Glu149del, NP_001287780.1:p.Glu149del, NP_001287781.1:p.Glu149del

            6.

            rs1490534951 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              GGTTGGAGGCC>- [Show Flanks]
              Chromosome:
              1:173936543 (GRCh38)
              1:173905681 (GRCh37)
              Canonical SPDI:
              NC_000001.11:173936542:GGTTGGAGGCC:
              Gene:
              RC3H1 (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0.001119/5 (ALFA)
              -=0.000052/7 (GnomAD)
              -=0.000364/6 (TOMMO)
              -=0.001116/5 (Estonian)
              HGVS:
              NC_000001.11:g.173936543_173936553del, NC_000001.10:g.173905681_173905691del, NM_172071.4:c.*2168_*2178del, NM_172071.3:c.*2168_*2178del, NM_172071.2:c.*2168_*2178del, XM_005244921.4:c.*2168_*2178del, XM_005244921.3:c.*2168_*2178del, XM_047447089.1:c.*2168_*2178del, XM_047447092.1:c.*2168_*2178del, XM_047447094.1:c.*2168_*2178del, XM_047447097.1:c.*2168_*2178del, XM_047447101.1:c.*2168_*2178del, XM_047447102.1:c.*2168_*2178del, XM_047447090.1:c.*2168_*2178del, XM_047447091.1:c.*2168_*2178del, XM_047447103.1:c.*2168_*2178del, XM_047447105.1:c.*2168_*2178del, XM_047447093.1:c.*2168_*2178del, XM_047447095.1:c.*2168_*2178del, XM_047447096.1:c.*2168_*2178del, XM_047447106.1:c.*2168_*2178del, NM_001300850.1:c.*2168_*2178del, XM_047447104.1:c.*2168_*2178del, NM_001300851.1:c.*2168_*2178del, NM_001300852.1:c.*2168_*2178del

              7.

              rs1490519891 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                1:173933539 (GRCh38)
                1:173902677 (GRCh37)
                Canonical SPDI:
                NC_000001.11:173933538:C:A
                Gene:
                RC3H1 (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000014/2 (GnomAD)
                HGVS:

                8.

                rs1490415408 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  1:173935236 (GRCh38)
                  1:173904374 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:173935235:T:C
                  Gene:
                  RC3H1 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000019/5 (TOPMED)
                  C=0.000021/3 (GnomAD)
                  HGVS:

                  9.

                  rs1490090974 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:173934054 (GRCh38)
                    1:173903192 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:173934053:G:A
                    Gene:
                    RC3H1 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:

                    10.

                    rs1490044808 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:173937606 (GRCh38)
                      1:173906744 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:173937605:A:G
                      Gene:
                      RC3H1 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      G=0.000008/2 (TOPMED)
                      HGVS:

                      11.

                      rs1490040198 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        1:173932865 (GRCh38)
                        1:173902003 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:173932864:T:C
                        Gene:
                        RC3H1 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000049/13 (TOPMED)
                        HGVS:

                        12.

                        rs1489931027 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:173982828 (GRCh38)
                          1:173951966 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:173982827:C:T
                          Gene:
                          RC3H1 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000001.11:g.173982828C>T, NC_000001.10:g.173951966C>T, NM_172071.4:c.667G>A, NM_172071.3:c.667G>A, NM_172071.2:c.667G>A, XM_005244921.4:c.667G>A, XM_005244921.3:c.667G>A, XM_005244921.2:c.667G>A, XM_005244921.1:c.667G>A, XM_047447089.1:c.667G>A, XM_047447092.1:c.667G>A, XM_047447094.1:c.667G>A, XM_047447097.1:c.667G>A, XM_047447101.1:c.667G>A, XM_047447102.1:c.667G>A, XM_047447090.1:c.667G>A, XM_047447091.1:c.667G>A, XM_047447103.1:c.667G>A, XM_047447105.1:c.667G>A, XM_047447093.1:c.667G>A, XM_047447095.1:c.667G>A, XM_047447096.1:c.667G>A, XM_047447106.1:c.667G>A, NM_001300850.1:c.667G>A, XM_047447104.1:c.667G>A, NM_001300851.1:c.667G>A, NM_001300852.1:c.667G>A, NP_742068.1:p.Val223Ile, XP_005244978.1:p.Val223Ile, XP_047303045.1:p.Val223Ile, XP_047303048.1:p.Val223Ile, XP_047303050.1:p.Val223Ile, XP_047303053.1:p.Val223Ile, XP_047303057.1:p.Val223Ile, XP_047303058.1:p.Val223Ile, XP_047303046.1:p.Val223Ile, XP_047303047.1:p.Val223Ile, XP_047303059.1:p.Val223Ile, XP_047303061.1:p.Val223Ile, XP_047303049.1:p.Val223Ile, XP_047303051.1:p.Val223Ile, XP_047303052.1:p.Val223Ile, XP_047303062.1:p.Val223Ile, NP_001287779.1:p.Val223Ile, XP_047303060.1:p.Val223Ile, NP_001287780.1:p.Val223Ile, NP_001287781.1:p.Val223Ile

                          13.

                          rs1489412552 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:173962091 (GRCh38)
                            1:173931229 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:173962090:C:T
                            Gene:
                            RC3H1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.173962091C>T, NC_000001.10:g.173931229C>T, NM_172071.4:c.1836G>A, NM_172071.3:c.1836G>A, NM_172071.2:c.1836G>A, XM_005244921.4:c.1773G>A, XM_005244921.3:c.1773G>A, XM_005244921.2:c.1773G>A, XM_005244921.1:c.1773G>A, XM_047447089.1:c.1836G>A, XM_047447092.1:c.1836G>A, XM_047447094.1:c.1836G>A, XM_047447097.1:c.1773G>A, XM_047447101.1:c.1773G>A, XM_047447102.1:c.1773G>A, XM_047447090.1:c.1836G>A, XM_047447091.1:c.1836G>A, XM_047447103.1:c.1836G>A, XM_047447105.1:c.1836G>A, XM_047447093.1:c.1836G>A, XM_047447095.1:c.1836G>A, XM_047447096.1:c.1773G>A, XM_047447106.1:c.1773G>A, NM_001300850.1:c.1836G>A, XM_047447104.1:c.1836G>A, NM_001300851.1:c.1836G>A, NM_001300852.1:c.1836G>A, NP_742068.1:p.Met612Ile, XP_005244978.1:p.Met591Ile, XP_047303045.1:p.Met612Ile, XP_047303048.1:p.Met612Ile, XP_047303050.1:p.Met612Ile, XP_047303053.1:p.Met591Ile, XP_047303057.1:p.Met591Ile, XP_047303058.1:p.Met591Ile, XP_047303046.1:p.Met612Ile, XP_047303047.1:p.Met612Ile, XP_047303059.1:p.Met612Ile, XP_047303061.1:p.Met612Ile, XP_047303049.1:p.Met612Ile, XP_047303051.1:p.Met612Ile, XP_047303052.1:p.Met591Ile, XP_047303062.1:p.Met591Ile, NP_001287779.1:p.Met612Ile, XP_047303060.1:p.Met612Ile, NP_001287780.1:p.Met612Ile, NP_001287781.1:p.Met612Ile

                            14.

                            rs1489314760 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              1:173936053 (GRCh38)
                              1:173905191 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:173936052:T:C
                              Gene:
                              RC3H1 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000026/7 (TOPMED)
                              HGVS:

                              15.

                              rs1489219082 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:173964140 (GRCh38)
                                1:173933278 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:173964139:T:C
                                Gene:
                                RC3H1 (Varview)
                                Functional Consequence:
                                intron_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000001.11:g.173964140T>C, NC_000001.10:g.173933278T>C, NM_172071.4:c.1664A>G, NM_172071.3:c.1664A>G, NM_172071.2:c.1664A>G, XM_047447089.1:c.1664A>G, XM_047447092.1:c.1664A>G, XM_047447094.1:c.1664A>G, XM_047447090.1:c.1664A>G, XM_047447091.1:c.1664A>G, XM_047447103.1:c.1664A>G, XM_047447105.1:c.1664A>G, XM_047447093.1:c.1664A>G, XM_047447095.1:c.1664A>G, NM_001300850.1:c.1664A>G, XM_047447104.1:c.1664A>G, NM_001300851.1:c.1664A>G, NM_001300852.1:c.1664A>G, NP_742068.1:p.His555Arg, XP_047303045.1:p.His555Arg, XP_047303048.1:p.His555Arg, XP_047303050.1:p.His555Arg, XP_047303046.1:p.His555Arg, XP_047303047.1:p.His555Arg, XP_047303059.1:p.His555Arg, XP_047303061.1:p.His555Arg, XP_047303049.1:p.His555Arg, XP_047303051.1:p.His555Arg, NP_001287779.1:p.His555Arg, XP_047303060.1:p.His555Arg, NP_001287780.1:p.His555Arg, NP_001287781.1:p.His555Arg

                                16.

                                rs1488800526 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ATTT>- [Show Flanks]
                                  Chromosome:
                                  1:173936761 (GRCh38)
                                  1:173905899 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:173936759:TATTT:T
                                  Gene:
                                  RC3H1 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.01045/124 (ALFA)
                                  -=0.01801/336 (GnomAD)
                                  -=0.03714/612 (TOMMO)
                                  HGVS:
                                  NC_000001.11:g.173936761_173936764del, NC_000001.10:g.173905899_173905902del, NM_172071.4:c.*1958_*1961del, NM_172071.3:c.*1958_*1961del, NM_172071.2:c.*1958_*1961del, XM_005244921.4:c.*1958_*1961del, XM_005244921.3:c.*1958_*1961del, XM_047447089.1:c.*1958_*1961del, XM_047447092.1:c.*1958_*1961del, XM_047447094.1:c.*1958_*1961del, XM_047447097.1:c.*1958_*1961del, XM_047447101.1:c.*1958_*1961del, XM_047447102.1:c.*1958_*1961del, XM_047447090.1:c.*1958_*1961del, XM_047447091.1:c.*1958_*1961del, XM_047447103.1:c.*1958_*1961del, XM_047447105.1:c.*1958_*1961del, XM_047447093.1:c.*1958_*1961del, XM_047447095.1:c.*1958_*1961del, XM_047447096.1:c.*1958_*1961del, XM_047447106.1:c.*1958_*1961del, NM_001300850.1:c.*1958_*1961del, XM_047447104.1:c.*1958_*1961del, NM_001300851.1:c.*1958_*1961del, NM_001300852.1:c.*1958_*1961del

                                  17.

                                  rs1488559014 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    1:173933908 (GRCh38)
                                    1:173903046 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:173933907:T:C
                                    Gene:
                                    RC3H1 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1488456314 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      1:173962008 (GRCh38)
                                      1:173931146 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:173962007:T:C
                                      Gene:
                                      RC3H1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000001.11:g.173962008T>C, NC_000001.10:g.173931146T>C, NM_172071.4:c.1919A>G, NM_172071.3:c.1919A>G, NM_172071.2:c.1919A>G, XM_005244921.4:c.1856A>G, XM_005244921.3:c.1856A>G, XM_005244921.2:c.1856A>G, XM_005244921.1:c.1856A>G, XM_047447089.1:c.1919A>G, XM_047447092.1:c.1919A>G, XM_047447094.1:c.1919A>G, XM_047447097.1:c.1856A>G, XM_047447101.1:c.1856A>G, XM_047447102.1:c.1856A>G, XM_047447090.1:c.1919A>G, XM_047447091.1:c.1919A>G, XM_047447103.1:c.1919A>G, XM_047447105.1:c.1919A>G, XM_047447093.1:c.1919A>G, XM_047447095.1:c.1919A>G, XM_047447096.1:c.1856A>G, XM_047447106.1:c.1856A>G, NM_001300850.1:c.1919A>G, XM_047447104.1:c.1919A>G, NM_001300851.1:c.1919A>G, NM_001300852.1:c.1919A>G, NP_742068.1:p.Asp640Gly, XP_005244978.1:p.Asp619Gly, XP_047303045.1:p.Asp640Gly, XP_047303048.1:p.Asp640Gly, XP_047303050.1:p.Asp640Gly, XP_047303053.1:p.Asp619Gly, XP_047303057.1:p.Asp619Gly, XP_047303058.1:p.Asp619Gly, XP_047303046.1:p.Asp640Gly, XP_047303047.1:p.Asp640Gly, XP_047303059.1:p.Asp640Gly, XP_047303061.1:p.Asp640Gly, XP_047303049.1:p.Asp640Gly, XP_047303051.1:p.Asp640Gly, XP_047303052.1:p.Asp619Gly, XP_047303062.1:p.Asp619Gly, NP_001287779.1:p.Asp640Gly, XP_047303060.1:p.Asp640Gly, NP_001287780.1:p.Asp640Gly, NP_001287781.1:p.Asp640Gly

                                      19.

                                      rs1488140236 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        1:173936509 (GRCh38)
                                        1:173905647 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:173936508:C:G
                                        Gene:
                                        RC3H1 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.00001/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1487842821 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          1:173935099 (GRCh38)
                                          1:173904237 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:173935098:A:G
                                          Gene:
                                          RC3H1 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000011/3 (TOPMED)
                                          G=0.000021/3 (GnomAD)
                                          G=0.000156/1 (1000Genomes)
                                          HGVS:

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