U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 212

1.

rs1485590350 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    22:20061543 (GRCh38)
    22:20049066 (GRCh37)
    Canonical SPDI:
    NC_000022.11:20061542:G:A,NC_000022.11:20061542:G:T
    Gene:
    TANGO2 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,stop_gained
    Clinical significance:
    likely-benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    NC_000022.11:g.20061543G>A, NC_000022.11:g.20061543G>T, NC_000022.10:g.20049066G>A, NC_000022.10:g.20049066G>T, NG_046857.1:g.49544G>A, NG_046857.1:g.49544G>T, NM_152906.7:c.465G>A, NM_152906.7:c.465G>T, NM_152906.6:c.465G>A, NM_152906.6:c.465G>T, NM_152906.5:c.465G>A, NM_152906.5:c.465G>T, NM_152906.4:c.465G>A, NM_152906.4:c.465G>T, NM_001283106.3:c.465G>A, NM_001283106.3:c.465G>T, NM_001283106.2:c.465G>A, NM_001283106.2:c.465G>T, NM_001283106.1:c.465G>A, NM_001283106.1:c.465G>T, NM_001283129.3:c.588G>A, NM_001283129.3:c.588G>T, NM_001283129.2:c.588G>A, NM_001283129.2:c.588G>T, NM_001283129.1:c.588G>A, NM_001283129.1:c.588G>T, NM_001283154.3:c.465G>A, NM_001283154.3:c.465G>T, NM_001283154.2:c.465G>A, NM_001283154.2:c.465G>T, NM_001283154.1:c.465G>A, NM_001283154.1:c.465G>T, NM_001283116.3:c.465G>A, NM_001283116.3:c.465G>T, NM_001283116.2:c.465G>A, NM_001283116.2:c.465G>T, NM_001283116.1:c.465G>A, NM_001283116.1:c.465G>T, NM_001283148.3:c.465G>A, NM_001283148.3:c.465G>T, NM_001283148.2:c.465G>A, NM_001283148.2:c.465G>T, NM_001283148.1:c.465G>A, NM_001283148.1:c.465G>T, NM_001283179.3:c.279G>A, NM_001283179.3:c.279G>T, NM_001283179.2:c.279G>A, NM_001283179.2:c.279G>T, NM_001283179.1:c.279G>A, NM_001283179.1:c.279G>T, NM_001283235.3:c.171G>A, NM_001283235.3:c.171G>T, NM_001283235.2:c.171G>A, NM_001283235.2:c.171G>T, NM_001283235.1:c.171G>A, NM_001283235.1:c.171G>T, NM_001283186.3:c.279G>A, NM_001283186.3:c.279G>T, NM_001283186.2:c.279G>A, NM_001283186.2:c.279G>T, NM_001283186.1:c.279G>A, NM_001283186.1:c.279G>T, NM_001322141.2:c.588G>A, NM_001322141.2:c.588G>T, NM_001322141.1:c.588G>A, NM_001322141.1:c.588G>T, NM_001322143.2:c.588G>A, NM_001322143.2:c.588G>T, NM_001322143.1:c.588G>A, NM_001322143.1:c.588G>T, NM_001322146.2:c.363G>A, NM_001322146.2:c.363G>T, NM_001322146.1:c.363G>A, NM_001322146.1:c.363G>T, NM_001322148.2:c.363G>A, NM_001322148.2:c.363G>T, NM_001322148.1:c.363G>A, NM_001322148.1:c.363G>T, NM_001322172.2:c.171G>A, NM_001322172.2:c.171G>T, NM_001322172.1:c.171G>A, NM_001322172.1:c.171G>T, NM_001322150.2:c.171G>A, NM_001322150.2:c.171G>T, NM_001322150.1:c.171G>A, NM_001322150.1:c.171G>T, NM_001322160.2:c.363G>A, NM_001322160.2:c.363G>T, NM_001322160.1:c.363G>A, NM_001322160.1:c.363G>T, NM_001322144.2:c.588G>A, NM_001322144.2:c.588G>T, NM_001322144.1:c.588G>A, NM_001322144.1:c.588G>T, NM_001322145.2:c.402G>A, NM_001322145.2:c.402G>T, NM_001322145.1:c.402G>A, NM_001322145.1:c.402G>T, NM_001322142.2:c.465G>A, NM_001322142.2:c.465G>T, NM_001322142.1:c.465G>A, NM_001322142.1:c.465G>T, NM_001322155.2:c.171G>A, NM_001322155.2:c.171G>T, NM_001322155.1:c.171G>A, NM_001322155.1:c.171G>T, NR_136211.2:n.641G>A, NR_136211.2:n.641G>T, NR_136211.1:n.643G>A, NR_136211.1:n.643G>T, NM_001322173.2:c.171G>A, NM_001322173.2:c.171G>T, NM_001322173.1:c.171G>A, NM_001322173.1:c.171G>T, NM_001322163.2:c.279G>A, NM_001322163.2:c.279G>T, NM_001322163.1:c.279G>A, NM_001322163.1:c.279G>T, NM_001322147.2:c.402G>A, NM_001322147.2:c.402G>T, NM_001322147.1:c.402G>A, NM_001322147.1:c.402G>T, NM_001322175.2:c.171G>A, NM_001322175.2:c.171G>T, NM_001322175.1:c.171G>A, NM_001322175.1:c.171G>T, NM_001322153.2:c.171G>A, NM_001322153.2:c.171G>T, NM_001322153.1:c.171G>A, NM_001322153.1:c.171G>T, NM_001322174.2:c.171G>A, NM_001322174.2:c.171G>T, NM_001322174.1:c.171G>A, NM_001322174.1:c.171G>T, NM_001322171.2:c.171G>A, NM_001322171.2:c.171G>T, NM_001322171.1:c.171G>A, NM_001322171.1:c.171G>T, NM_001322167.2:c.279G>A, NM_001322167.2:c.279G>T, NM_001322167.1:c.279G>A, NM_001322167.1:c.279G>T, NR_136206.2:n.455G>A, NR_136206.2:n.455G>T, NR_136206.1:n.457G>A, NR_136206.1:n.457G>T, NM_001322166.2:c.279G>A, NM_001322166.2:c.279G>T, NM_001322166.1:c.279G>A, NM_001322166.1:c.279G>T, NM_001322169.2:c.279G>A, NM_001322169.2:c.279G>T, NM_001322169.1:c.279G>A, NM_001322169.1:c.279G>T, NR_136212.1:n.562G>A, NR_136212.1:n.562G>T, XM_017028580.2:c.465G>A, XM_017028580.2:c.465G>T, XM_017028580.1:c.465G>A, XM_017028580.1:c.465G>T, XM_017028579.2:c.465G>A, XM_017028579.2:c.465G>T, XM_017028579.1:c.465G>A, XM_017028579.1:c.465G>T, XM_017028577.2:c.465G>A, XM_017028577.2:c.465G>T, XM_017028577.1:c.465G>A, XM_017028577.1:c.465G>T, XM_017028585.2:c.279G>A, XM_017028585.2:c.279G>T, XM_017028585.1:c.279G>A, XM_017028585.1:c.279G>T, XM_017028586.2:c.279G>A, XM_017028586.2:c.279G>T, XM_017028586.1:c.279G>A, XM_017028586.1:c.279G>T, XM_047441118.1:c.588G>A, XM_047441118.1:c.588G>T, XM_047441121.1:c.402G>A, XM_047441121.1:c.402G>T, XM_047441119.1:c.402G>A, XM_047441119.1:c.402G>T, XM_047441120.1:c.402G>A, XM_047441120.1:c.402G>T, XM_047441124.1:c.465G>A, XM_047441124.1:c.465G>T, XM_047441123.1:c.588G>A, XM_047441123.1:c.588G>T, XM_047441126.1:c.622G>A, XM_047441126.1:c.622G>T, XM_047441125.1:c.622G>A, XM_047441125.1:c.622G>T, XM_047441128.1:c.588G>A, XM_047441128.1:c.588G>T, XM_047441127.1:c.622G>A, XM_047441127.1:c.622G>T, XP_047297082.1:p.Glu208Lys, XP_047297082.1:p.Glu208Ter, XP_047297081.1:p.Glu208Lys, XP_047297081.1:p.Glu208Ter, XP_047297083.1:p.Glu208Lys, XP_047297083.1:p.Glu208Ter

    2.

    rs1484887458 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      22:20061646 (GRCh38)
      22:20049169 (GRCh37)
      Canonical SPDI:
      NC_000022.11:20061645:A:G
      Gene:
      TANGO2 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000008/2 (TOPMED)
      HGVS:
      NC_000022.11:g.20061646A>G, NC_000022.10:g.20049169A>G, NG_046857.1:g.49647A>G, NM_152906.7:c.568A>G, NM_152906.6:c.568A>G, NM_152906.5:c.568A>G, NM_152906.4:c.568A>G, NM_001283106.3:c.568A>G, NM_001283106.2:c.568A>G, NM_001283106.1:c.568A>G, NM_001283129.3:c.691A>G, NM_001283129.2:c.691A>G, NM_001283129.1:c.691A>G, NM_001283154.3:c.568A>G, NM_001283154.2:c.568A>G, NM_001283154.1:c.568A>G, NM_001283116.3:c.568A>G, NM_001283116.2:c.568A>G, NM_001283116.1:c.568A>G, NM_001283148.3:c.568A>G, NM_001283148.2:c.568A>G, NM_001283148.1:c.568A>G, NM_001283179.3:c.382A>G, NM_001283179.2:c.382A>G, NM_001283179.1:c.382A>G, NM_001283235.3:c.274A>G, NM_001283235.2:c.274A>G, NM_001283235.1:c.274A>G, NM_001283186.3:c.382A>G, NM_001283186.2:c.382A>G, NM_001283186.1:c.382A>G, NM_001322141.2:c.691A>G, NM_001322141.1:c.691A>G, NM_001322143.2:c.691A>G, NM_001322143.1:c.691A>G, NM_001322146.2:c.466A>G, NM_001322146.1:c.466A>G, NM_001322148.2:c.466A>G, NM_001322148.1:c.466A>G, NM_001322172.2:c.274A>G, NM_001322172.1:c.274A>G, NM_001322150.2:c.274A>G, NM_001322150.1:c.274A>G, NM_001322160.2:c.466A>G, NM_001322160.1:c.466A>G, NM_001322144.2:c.691A>G, NM_001322144.1:c.691A>G, NM_001322145.2:c.505A>G, NM_001322145.1:c.505A>G, NM_001322142.2:c.568A>G, NM_001322142.1:c.568A>G, NM_001322155.2:c.274A>G, NM_001322155.1:c.274A>G, NR_136211.2:n.744A>G, NR_136211.1:n.746A>G, NM_001322173.2:c.274A>G, NM_001322173.1:c.274A>G, NM_001322163.2:c.382A>G, NM_001322163.1:c.382A>G, NM_001322147.2:c.505A>G, NM_001322147.1:c.505A>G, NM_001322175.2:c.274A>G, NM_001322175.1:c.274A>G, NM_001322153.2:c.274A>G, NM_001322153.1:c.274A>G, NM_001322174.2:c.274A>G, NM_001322174.1:c.274A>G, NM_001322171.2:c.274A>G, NM_001322171.1:c.274A>G, NM_001322167.2:c.382A>G, NM_001322167.1:c.382A>G, NR_136206.2:n.558A>G, NR_136206.1:n.560A>G, NM_001322166.2:c.382A>G, NM_001322166.1:c.382A>G, NM_001322169.2:c.382A>G, NM_001322169.1:c.382A>G, NR_136212.1:n.665A>G, XM_017028580.2:c.568A>G, XM_017028580.1:c.568A>G, XM_017028579.2:c.568A>G, XM_017028579.1:c.568A>G, XM_017028577.2:c.568A>G, XM_017028577.1:c.568A>G, XM_017028585.2:c.382A>G, XM_017028585.1:c.382A>G, XM_017028586.2:c.382A>G, XM_017028586.1:c.382A>G, XM_047441118.1:c.691A>G, XM_047441121.1:c.505A>G, XM_047441119.1:c.505A>G, XM_047441120.1:c.505A>G, XM_047441124.1:c.568A>G, XM_047441123.1:c.691A>G, XM_047441126.1:c.725A>G, XM_047441125.1:c.725A>G, XM_047441128.1:c.691A>G, XM_047441127.1:c.725A>G, NP_690870.3:p.Ile190Val, NP_001270035.1:p.Ile190Val, NP_001270058.1:p.Ile231Val, NP_001270083.1:p.Ile190Val, NP_001270045.1:p.Ile190Val, NP_001270077.1:p.Ile190Val, NP_001270108.1:p.Ile128Val, NP_001270164.1:p.Ile92Val, NP_001270115.1:p.Ile128Val, NP_001309070.1:p.Ile231Val, NP_001309072.1:p.Ile231Val, NP_001309075.1:p.Ile156Val, NP_001309077.1:p.Ile156Val, NP_001309101.1:p.Ile92Val, NP_001309079.1:p.Ile92Val, NP_001309089.1:p.Ile156Val, NP_001309073.1:p.Ile231Val, NP_001309074.1:p.Ile169Val, NP_001309071.1:p.Ile190Val, NP_001309084.1:p.Ile92Val, NP_001309102.1:p.Ile92Val, NP_001309092.1:p.Ile128Val, NP_001309076.1:p.Ile169Val, NP_001309104.1:p.Ile92Val, NP_001309082.1:p.Ile92Val, NP_001309103.1:p.Ile92Val, NP_001309100.1:p.Ile92Val, NP_001309096.1:p.Ile128Val, NP_001309095.1:p.Ile128Val, NP_001309098.1:p.Ile128Val, XP_016884069.1:p.Ile190Val, XP_016884068.1:p.Ile190Val, XP_016884066.1:p.Ile190Val, XP_016884074.1:p.Ile128Val, XP_016884075.1:p.Ile128Val, XP_047297074.1:p.Ile231Val, XP_047297077.1:p.Ile169Val, XP_047297075.1:p.Ile169Val, XP_047297076.1:p.Ile169Val, XP_047297080.1:p.Ile190Val, XP_047297079.1:p.Ile231Val, XP_047297082.1:p.His242Arg, XP_047297081.1:p.His242Arg, XP_047297084.1:p.Ile231Val, XP_047297083.1:p.His242Arg

      3.

      rs1480479026 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        22:20061682 (GRCh38)
        22:20049205 (GRCh37)
        Canonical SPDI:
        NC_000022.11:20061681:G:A
        Gene:
        TANGO2 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,splice_donor_variant,downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
        HGVS:
        NC_000022.11:g.20061682G>A, NC_000022.10:g.20049205G>A, NG_046857.1:g.49683G>A, NM_152906.7:c.604G>A, NM_152906.6:c.604G>A, NM_152906.5:c.604G>A, NM_152906.4:c.604G>A, NM_001283106.3:c.604G>A, NM_001283106.2:c.604G>A, NM_001283106.1:c.604G>A, NM_001283129.3:c.727G>A, NM_001283129.2:c.727G>A, NM_001283129.1:c.727G>A, NM_001283116.3:c.604G>A, NM_001283116.2:c.604G>A, NM_001283116.1:c.604G>A, NM_001283179.3:c.418G>A, NM_001283179.2:c.418G>A, NM_001283179.1:c.418G>A, NM_001283235.3:c.310G>A, NM_001283235.2:c.310G>A, NM_001283235.1:c.310G>A, NM_001283186.3:c.418G>A, NM_001283186.2:c.418G>A, NM_001283186.1:c.418G>A, NM_001322141.2:c.727G>A, NM_001322141.1:c.727G>A, NM_001322143.2:c.727G>A, NM_001322143.1:c.727G>A, NM_001322146.2:c.502G>A, NM_001322146.1:c.502G>A, NM_001322148.2:c.502G>A, NM_001322148.1:c.502G>A, NM_001322172.2:c.310G>A, NM_001322172.1:c.310G>A, NM_001322150.2:c.310G>A, NM_001322150.1:c.310G>A, NM_001322145.2:c.541G>A, NM_001322145.1:c.541G>A, NM_001322142.2:c.604G>A, NM_001322142.1:c.604G>A, NM_001322155.2:c.310G>A, NM_001322155.1:c.310G>A, NR_136211.2:n.780G>A, NR_136211.1:n.782G>A, NM_001322173.2:c.310G>A, NM_001322173.1:c.310G>A, NM_001322163.2:c.418G>A, NM_001322163.1:c.418G>A, NM_001322147.2:c.541G>A, NM_001322147.1:c.541G>A, NM_001322175.2:c.310G>A, NM_001322175.1:c.310G>A, NM_001322153.2:c.310G>A, NM_001322153.1:c.310G>A, NM_001322174.2:c.310G>A, NM_001322174.1:c.310G>A, NM_001322171.2:c.310G>A, NM_001322171.1:c.310G>A, NM_001322167.2:c.418G>A, NM_001322167.1:c.418G>A, NR_136206.2:n.594G>A, NR_136206.1:n.596G>A, NM_001322166.2:c.418G>A, NM_001322166.1:c.418G>A, NR_136212.1:n.701G>A, XM_017028580.2:c.604G>A, XM_017028580.1:c.604G>A, XM_017028579.2:c.604G>A, XM_017028579.1:c.604G>A, XM_017028577.2:c.604G>A, XM_017028577.1:c.604G>A, XM_017028585.2:c.418G>A, XM_017028585.1:c.418G>A, XM_017028586.2:c.418G>A, XM_017028586.1:c.418G>A, XM_047441118.1:c.727G>A, XM_047441121.1:c.541G>A, XM_047441119.1:c.541G>A, XM_047441120.1:c.541G>A, XM_047441124.1:c.604G>A, XM_047441123.1:c.727G>A, XM_047441126.1:c.*5G>A, XM_047441125.1:c.*5G>A, XM_047441128.1:c.727G>A, XM_047441127.1:c.*5G>A, NP_690870.3:p.Ala202Thr, NP_001270035.1:p.Ala202Thr, NP_001270058.1:p.Ala243Thr, NP_001270045.1:p.Ala202Thr, NP_001270108.1:p.Ala140Thr, NP_001270164.1:p.Ala104Thr, NP_001270115.1:p.Ala140Thr, NP_001309070.1:p.Ala243Thr, NP_001309072.1:p.Ala243Thr, NP_001309075.1:p.Ala168Thr, NP_001309077.1:p.Ala168Thr, NP_001309101.1:p.Ala104Thr, NP_001309079.1:p.Ala104Thr, NP_001309074.1:p.Ala181Thr, NP_001309071.1:p.Ala202Thr, NP_001309084.1:p.Ala104Thr, NP_001309102.1:p.Ala104Thr, NP_001309092.1:p.Ala140Thr, NP_001309076.1:p.Ala181Thr, NP_001309104.1:p.Ala104Thr, NP_001309082.1:p.Ala104Thr, NP_001309103.1:p.Ala104Thr, NP_001309100.1:p.Ala104Thr, NP_001309096.1:p.Ala140Thr, NP_001309095.1:p.Ala140Thr, XP_016884069.1:p.Ala202Thr, XP_016884068.1:p.Ala202Thr, XP_016884066.1:p.Ala202Thr, XP_016884074.1:p.Ala140Thr, XP_016884075.1:p.Ala140Thr, XP_047297074.1:p.Ala243Thr, XP_047297077.1:p.Ala181Thr, XP_047297075.1:p.Ala181Thr, XP_047297076.1:p.Ala181Thr, XP_047297080.1:p.Ala202Thr, XP_047297079.1:p.Ala243Thr, XP_047297084.1:p.Ala243Thr

        4.

        rs1471696466 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          22:20061601 (GRCh38)
          22:20049124 (GRCh37)
          Canonical SPDI:
          NC_000022.11:20061600:C:T
          Gene:
          TANGO2 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
          HGVS:
          NC_000022.11:g.20061601C>T, NC_000022.10:g.20049124C>T, NG_046857.1:g.49602C>T, NM_152906.7:c.523C>T, NM_152906.6:c.523C>T, NM_152906.5:c.523C>T, NM_152906.4:c.523C>T, NM_001283106.3:c.523C>T, NM_001283106.2:c.523C>T, NM_001283106.1:c.523C>T, NM_001283129.3:c.646C>T, NM_001283129.2:c.646C>T, NM_001283129.1:c.646C>T, NM_001283154.3:c.523C>T, NM_001283154.2:c.523C>T, NM_001283154.1:c.523C>T, NM_001283116.3:c.523C>T, NM_001283116.2:c.523C>T, NM_001283116.1:c.523C>T, NM_001283148.3:c.523C>T, NM_001283148.2:c.523C>T, NM_001283148.1:c.523C>T, NM_001283179.3:c.337C>T, NM_001283179.2:c.337C>T, NM_001283179.1:c.337C>T, NM_001283235.3:c.229C>T, NM_001283235.2:c.229C>T, NM_001283235.1:c.229C>T, NM_001283186.3:c.337C>T, NM_001283186.2:c.337C>T, NM_001283186.1:c.337C>T, NM_001322141.2:c.646C>T, NM_001322141.1:c.646C>T, NM_001322143.2:c.646C>T, NM_001322143.1:c.646C>T, NM_001322146.2:c.421C>T, NM_001322146.1:c.421C>T, NM_001322148.2:c.421C>T, NM_001322148.1:c.421C>T, NM_001322172.2:c.229C>T, NM_001322172.1:c.229C>T, NM_001322150.2:c.229C>T, NM_001322150.1:c.229C>T, NM_001322160.2:c.421C>T, NM_001322160.1:c.421C>T, NM_001322144.2:c.646C>T, NM_001322144.1:c.646C>T, NM_001322145.2:c.460C>T, NM_001322145.1:c.460C>T, NM_001322142.2:c.523C>T, NM_001322142.1:c.523C>T, NM_001322155.2:c.229C>T, NM_001322155.1:c.229C>T, NR_136211.2:n.699C>T, NR_136211.1:n.701C>T, NM_001322173.2:c.229C>T, NM_001322173.1:c.229C>T, NM_001322163.2:c.337C>T, NM_001322163.1:c.337C>T, NM_001322147.2:c.460C>T, NM_001322147.1:c.460C>T, NM_001322175.2:c.229C>T, NM_001322175.1:c.229C>T, NM_001322153.2:c.229C>T, NM_001322153.1:c.229C>T, NM_001322174.2:c.229C>T, NM_001322174.1:c.229C>T, NM_001322171.2:c.229C>T, NM_001322171.1:c.229C>T, NM_001322167.2:c.337C>T, NM_001322167.1:c.337C>T, NR_136206.2:n.513C>T, NR_136206.1:n.515C>T, NM_001322166.2:c.337C>T, NM_001322166.1:c.337C>T, NM_001322169.2:c.337C>T, NM_001322169.1:c.337C>T, NR_136212.1:n.620C>T, XM_017028580.2:c.523C>T, XM_017028580.1:c.523C>T, XM_017028579.2:c.523C>T, XM_017028579.1:c.523C>T, XM_017028577.2:c.523C>T, XM_017028577.1:c.523C>T, XM_017028585.2:c.337C>T, XM_017028585.1:c.337C>T, XM_017028586.2:c.337C>T, XM_017028586.1:c.337C>T, XM_047441118.1:c.646C>T, XM_047441121.1:c.460C>T, XM_047441119.1:c.460C>T, XM_047441120.1:c.460C>T, XM_047441124.1:c.523C>T, XM_047441123.1:c.646C>T, XM_047441126.1:c.680C>T, XM_047441125.1:c.680C>T, XM_047441128.1:c.646C>T, XM_047441127.1:c.680C>T, XP_047297082.1:p.Pro227Leu, XP_047297081.1:p.Pro227Leu, XP_047297083.1:p.Pro227Leu

          5.

          rs1471455689 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            22:20055943 (GRCh38)
            22:20043466 (GRCh37)
            Canonical SPDI:
            NC_000022.11:20055942:C:A,NC_000022.11:20055942:C:T
            Gene:
            TANGO2 (Varview)
            Functional Consequence:
            intron_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000011/3 (TOPMED)
            T=0.000014/2 (GnomAD)
            C=0.5/1 (SGDP_PRJ)
            HGVS:
            NC_000022.11:g.20055943C>A, NC_000022.11:g.20055943C>T, NC_000022.10:g.20043466C>A, NC_000022.10:g.20043466C>T, NG_046857.1:g.43944C>A, NG_046857.1:g.43944C>T, NM_152906.7:c.381C>A, NM_152906.7:c.381C>T, NM_152906.6:c.381C>A, NM_152906.6:c.381C>T, NM_152906.5:c.381C>A, NM_152906.5:c.381C>T, NM_152906.4:c.381C>A, NM_152906.4:c.381C>T, NM_001283106.3:c.381C>A, NM_001283106.3:c.381C>T, NM_001283106.2:c.381C>A, NM_001283106.2:c.381C>T, NM_001283106.1:c.381C>A, NM_001283106.1:c.381C>T, NM_001283129.3:c.504C>A, NM_001283129.3:c.504C>T, NM_001283129.2:c.504C>A, NM_001283129.2:c.504C>T, NM_001283129.1:c.504C>A, NM_001283129.1:c.504C>T, NM_001283154.3:c.381C>A, NM_001283154.3:c.381C>T, NM_001283154.2:c.381C>A, NM_001283154.2:c.381C>T, NM_001283154.1:c.381C>A, NM_001283154.1:c.381C>T, NM_001283116.3:c.381C>A, NM_001283116.3:c.381C>T, NM_001283116.2:c.381C>A, NM_001283116.2:c.381C>T, NM_001283116.1:c.381C>A, NM_001283116.1:c.381C>T, NM_001283148.3:c.381C>A, NM_001283148.3:c.381C>T, NM_001283148.2:c.381C>A, NM_001283148.2:c.381C>T, NM_001283148.1:c.381C>A, NM_001283148.1:c.381C>T, NM_001283215.3:c.504C>A, NM_001283215.3:c.504C>T, NM_001283215.2:c.504C>A, NM_001283215.2:c.504C>T, NM_001283215.1:c.504C>A, NM_001283215.1:c.504C>T, NR_104275.3:n.570C>A, NR_104275.3:n.570C>T, NR_104275.2:n.611C>A, NR_104275.2:n.611C>T, NR_104275.1:n.545C>A, NR_104275.1:n.545C>T, NM_001283235.3:c.87C>A, NM_001283235.3:c.87C>T, NM_001283235.2:c.87C>A, NM_001283235.2:c.87C>T, NM_001283235.1:c.87C>A, NM_001283235.1:c.87C>T, NR_104274.3:n.330C>A, NR_104274.3:n.330C>T, NR_104274.2:n.371C>A, NR_104274.2:n.371C>T, NR_104274.1:n.371C>A, NR_104274.1:n.371C>T, NM_001322141.2:c.504C>A, NM_001322141.2:c.504C>T, NM_001322141.1:c.504C>A, NM_001322141.1:c.504C>T, NM_001322143.2:c.504C>A, NM_001322143.2:c.504C>T, NM_001322143.1:c.504C>A, NM_001322143.1:c.504C>T, NM_001322146.2:c.279C>A, NM_001322146.2:c.279C>T, NM_001322146.1:c.279C>A, NM_001322146.1:c.279C>T, NM_001322148.2:c.279C>A, NM_001322148.2:c.279C>T, NM_001322148.1:c.279C>A, NM_001322148.1:c.279C>T, NM_001322172.2:c.87C>A, NM_001322172.2:c.87C>T, NM_001322172.1:c.87C>A, NM_001322172.1:c.87C>T, NM_001322150.2:c.87C>A, NM_001322150.2:c.87C>T, NM_001322150.1:c.87C>A, NM_001322150.1:c.87C>T, NM_001322160.2:c.279C>A, NM_001322160.2:c.279C>T, NM_001322160.1:c.279C>A, NM_001322160.1:c.279C>T, NM_001322144.2:c.504C>A, NM_001322144.2:c.504C>T, NM_001322144.1:c.504C>A, NM_001322144.1:c.504C>T, NM_001322142.2:c.381C>A, NM_001322142.2:c.381C>T, NM_001322142.1:c.381C>A, NM_001322142.1:c.381C>T, NM_001322155.2:c.87C>A, NM_001322155.2:c.87C>T, NM_001322155.1:c.87C>A, NM_001322155.1:c.87C>T, NR_136211.2:n.557C>A, NR_136211.2:n.557C>T, NR_136211.1:n.559C>A, NR_136211.1:n.559C>T, NM_001322173.2:c.87C>A, NM_001322173.2:c.87C>T, NM_001322173.1:c.87C>A, NM_001322173.1:c.87C>T, NM_001322175.2:c.87C>A, NM_001322175.2:c.87C>T, NM_001322175.1:c.87C>A, NM_001322175.1:c.87C>T, NM_001322153.2:c.87C>A, NM_001322153.2:c.87C>T, NM_001322153.1:c.87C>A, NM_001322153.1:c.87C>T, NM_001322174.2:c.87C>A, NM_001322174.2:c.87C>T, NM_001322174.1:c.87C>A, NM_001322174.1:c.87C>T, NM_001322171.2:c.87C>A, NM_001322171.2:c.87C>T, NM_001322171.1:c.87C>A, NM_001322171.1:c.87C>T, NR_136212.1:n.444C>A, NR_136212.1:n.444C>T, XM_017028580.2:c.381C>A, XM_017028580.2:c.381C>T, XM_017028580.1:c.381C>A, XM_017028580.1:c.381C>T, XM_017028579.2:c.381C>A, XM_017028579.2:c.381C>T, XM_017028579.1:c.381C>A, XM_017028579.1:c.381C>T, XM_017028577.2:c.381C>A, XM_017028577.2:c.381C>T, XM_017028577.1:c.381C>A, XM_017028577.1:c.381C>T, XM_047441118.1:c.504C>A, XM_047441118.1:c.504C>T, XM_047441124.1:c.381C>A, XM_047441124.1:c.381C>T, XM_047441123.1:c.504C>A, XM_047441123.1:c.504C>T, XM_047441129.1:c.504C>A, XM_047441129.1:c.504C>T, XM_047441126.1:c.504C>A, XM_047441126.1:c.504C>T, XM_047441125.1:c.504C>A, XM_047441125.1:c.504C>T, XM_047441128.1:c.504C>A, XM_047441128.1:c.504C>T, XM_047441127.1:c.504C>A, XM_047441127.1:c.504C>T, XM_047441130.1:c.504C>A, XM_047441130.1:c.504C>T, NP_690870.3:p.Ser127Arg, NP_001270035.1:p.Ser127Arg, NP_001270058.1:p.Ser168Arg, NP_001270083.1:p.Ser127Arg, NP_001270045.1:p.Ser127Arg, NP_001270077.1:p.Ser127Arg, NP_001270144.1:p.Ser168Arg, NP_001270164.1:p.Ser29Arg, NP_001309070.1:p.Ser168Arg, NP_001309072.1:p.Ser168Arg, NP_001309075.1:p.Ser93Arg, NP_001309077.1:p.Ser93Arg, NP_001309101.1:p.Ser29Arg, NP_001309079.1:p.Ser29Arg, NP_001309089.1:p.Ser93Arg, NP_001309073.1:p.Ser168Arg, NP_001309071.1:p.Ser127Arg, NP_001309084.1:p.Ser29Arg, NP_001309102.1:p.Ser29Arg, NP_001309104.1:p.Ser29Arg, NP_001309082.1:p.Ser29Arg, NP_001309103.1:p.Ser29Arg, NP_001309100.1:p.Ser29Arg, XP_016884069.1:p.Ser127Arg, XP_016884068.1:p.Ser127Arg, XP_016884066.1:p.Ser127Arg, XP_047297074.1:p.Ser168Arg, XP_047297080.1:p.Ser127Arg, XP_047297079.1:p.Ser168Arg, XP_047297085.1:p.Ser168Arg, XP_047297082.1:p.Ser168Arg, XP_047297081.1:p.Ser168Arg, XP_047297084.1:p.Ser168Arg, XP_047297083.1:p.Ser168Arg, XP_047297086.1:p.Ser168Arg

            6.

            rs1469347506 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              22:20061671 (GRCh38)
              22:20049194 (GRCh37)
              Canonical SPDI:
              NC_000022.11:20061670:A:G
              Gene:
              TANGO2 (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
              HGVS:
              NC_000022.11:g.20061671A>G, NC_000022.10:g.20049194A>G, NG_046857.1:g.49672A>G, NM_152906.7:c.593A>G, NM_152906.6:c.593A>G, NM_152906.5:c.593A>G, NM_152906.4:c.593A>G, NM_001283106.3:c.593A>G, NM_001283106.2:c.593A>G, NM_001283106.1:c.593A>G, NM_001283129.3:c.716A>G, NM_001283129.2:c.716A>G, NM_001283129.1:c.716A>G, NM_001283154.3:c.593A>G, NM_001283154.2:c.593A>G, NM_001283154.1:c.593A>G, NM_001283116.3:c.593A>G, NM_001283116.2:c.593A>G, NM_001283116.1:c.593A>G, NM_001283148.3:c.593A>G, NM_001283148.2:c.593A>G, NM_001283148.1:c.593A>G, NM_001283179.3:c.407A>G, NM_001283179.2:c.407A>G, NM_001283179.1:c.407A>G, NM_001283235.3:c.299A>G, NM_001283235.2:c.299A>G, NM_001283235.1:c.299A>G, NM_001283186.3:c.407A>G, NM_001283186.2:c.407A>G, NM_001283186.1:c.407A>G, NM_001322141.2:c.716A>G, NM_001322141.1:c.716A>G, NM_001322143.2:c.716A>G, NM_001322143.1:c.716A>G, NM_001322146.2:c.491A>G, NM_001322146.1:c.491A>G, NM_001322148.2:c.491A>G, NM_001322148.1:c.491A>G, NM_001322172.2:c.299A>G, NM_001322172.1:c.299A>G, NM_001322150.2:c.299A>G, NM_001322150.1:c.299A>G, NM_001322160.2:c.491A>G, NM_001322160.1:c.491A>G, NM_001322144.2:c.716A>G, NM_001322144.1:c.716A>G, NM_001322145.2:c.530A>G, NM_001322145.1:c.530A>G, NM_001322142.2:c.593A>G, NM_001322142.1:c.593A>G, NM_001322155.2:c.299A>G, NM_001322155.1:c.299A>G, NR_136211.2:n.769A>G, NR_136211.1:n.771A>G, NM_001322173.2:c.299A>G, NM_001322173.1:c.299A>G, NM_001322163.2:c.407A>G, NM_001322163.1:c.407A>G, NM_001322147.2:c.530A>G, NM_001322147.1:c.530A>G, NM_001322175.2:c.299A>G, NM_001322175.1:c.299A>G, NM_001322153.2:c.299A>G, NM_001322153.1:c.299A>G, NM_001322174.2:c.299A>G, NM_001322174.1:c.299A>G, NM_001322171.2:c.299A>G, NM_001322171.1:c.299A>G, NM_001322167.2:c.407A>G, NM_001322167.1:c.407A>G, NR_136206.2:n.583A>G, NR_136206.1:n.585A>G, NM_001322166.2:c.407A>G, NM_001322166.1:c.407A>G, NM_001322169.2:c.407A>G, NM_001322169.1:c.407A>G, NR_136212.1:n.690A>G, XM_017028580.2:c.593A>G, XM_017028580.1:c.593A>G, XM_017028579.2:c.593A>G, XM_017028579.1:c.593A>G, XM_017028577.2:c.593A>G, XM_017028577.1:c.593A>G, XM_017028585.2:c.407A>G, XM_017028585.1:c.407A>G, XM_017028586.2:c.407A>G, XM_017028586.1:c.407A>G, XM_047441118.1:c.716A>G, XM_047441121.1:c.530A>G, XM_047441119.1:c.530A>G, XM_047441120.1:c.530A>G, XM_047441124.1:c.593A>G, XM_047441123.1:c.716A>G, XM_047441126.1:c.750A>G, XM_047441125.1:c.750A>G, XM_047441128.1:c.716A>G, XM_047441127.1:c.750A>G, NP_690870.3:p.Asn198Ser, NP_001270035.1:p.Asn198Ser, NP_001270058.1:p.Asn239Ser, NP_001270083.1:p.Asn198Ser, NP_001270045.1:p.Asn198Ser, NP_001270077.1:p.Asn198Ser, NP_001270108.1:p.Asn136Ser, NP_001270164.1:p.Asn100Ser, NP_001270115.1:p.Asn136Ser, NP_001309070.1:p.Asn239Ser, NP_001309072.1:p.Asn239Ser, NP_001309075.1:p.Asn164Ser, NP_001309077.1:p.Asn164Ser, NP_001309101.1:p.Asn100Ser, NP_001309079.1:p.Asn100Ser, NP_001309089.1:p.Asn164Ser, NP_001309073.1:p.Asn239Ser, NP_001309074.1:p.Asn177Ser, NP_001309071.1:p.Asn198Ser, NP_001309084.1:p.Asn100Ser, NP_001309102.1:p.Asn100Ser, NP_001309092.1:p.Asn136Ser, NP_001309076.1:p.Asn177Ser, NP_001309104.1:p.Asn100Ser, NP_001309082.1:p.Asn100Ser, NP_001309103.1:p.Asn100Ser, NP_001309100.1:p.Asn100Ser, NP_001309096.1:p.Asn136Ser, NP_001309095.1:p.Asn136Ser, NP_001309098.1:p.Asn136Ser, XP_016884069.1:p.Asn198Ser, XP_016884068.1:p.Asn198Ser, XP_016884066.1:p.Asn198Ser, XP_016884074.1:p.Asn136Ser, XP_016884075.1:p.Asn136Ser, XP_047297074.1:p.Asn239Ser, XP_047297077.1:p.Asn177Ser, XP_047297075.1:p.Asn177Ser, XP_047297076.1:p.Asn177Ser, XP_047297080.1:p.Asn198Ser, XP_047297079.1:p.Asn239Ser, XP_047297084.1:p.Asn239Ser

              7.

              rs1462626617 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C,G [Show Flanks]
                Chromosome:
                22:20061596 (GRCh38)
                22:20049119 (GRCh37)
                Canonical SPDI:
                NC_000022.11:20061595:T:C,NC_000022.11:20061595:T:G
                Gene:
                TANGO2 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,synonymous_variant,missense_variant,coding_sequence_variant
                Clinical significance:
                uncertain-significance
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.00003/1 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000022.11:g.20061596T>C, NC_000022.11:g.20061596T>G, NC_000022.10:g.20049119T>C, NC_000022.10:g.20049119T>G, NG_046857.1:g.49597T>C, NG_046857.1:g.49597T>G, NM_152906.7:c.518T>C, NM_152906.7:c.518T>G, NM_152906.6:c.518T>C, NM_152906.6:c.518T>G, NM_152906.5:c.518T>C, NM_152906.5:c.518T>G, NM_152906.4:c.518T>C, NM_152906.4:c.518T>G, NM_001283106.3:c.518T>C, NM_001283106.3:c.518T>G, NM_001283106.2:c.518T>C, NM_001283106.2:c.518T>G, NM_001283106.1:c.518T>C, NM_001283106.1:c.518T>G, NM_001283129.3:c.641T>C, NM_001283129.3:c.641T>G, NM_001283129.2:c.641T>C, NM_001283129.2:c.641T>G, NM_001283129.1:c.641T>C, NM_001283129.1:c.641T>G, NM_001283154.3:c.518T>C, NM_001283154.3:c.518T>G, NM_001283154.2:c.518T>C, NM_001283154.2:c.518T>G, NM_001283154.1:c.518T>C, NM_001283154.1:c.518T>G, NM_001283116.3:c.518T>C, NM_001283116.3:c.518T>G, NM_001283116.2:c.518T>C, NM_001283116.2:c.518T>G, NM_001283116.1:c.518T>C, NM_001283116.1:c.518T>G, NM_001283148.3:c.518T>C, NM_001283148.3:c.518T>G, NM_001283148.2:c.518T>C, NM_001283148.2:c.518T>G, NM_001283148.1:c.518T>C, NM_001283148.1:c.518T>G, NM_001283179.3:c.332T>C, NM_001283179.3:c.332T>G, NM_001283179.2:c.332T>C, NM_001283179.2:c.332T>G, NM_001283179.1:c.332T>C, NM_001283179.1:c.332T>G, NM_001283235.3:c.224T>C, NM_001283235.3:c.224T>G, NM_001283235.2:c.224T>C, NM_001283235.2:c.224T>G, NM_001283235.1:c.224T>C, NM_001283235.1:c.224T>G, NM_001283186.3:c.332T>C, NM_001283186.3:c.332T>G, NM_001283186.2:c.332T>C, NM_001283186.2:c.332T>G, NM_001283186.1:c.332T>C, NM_001283186.1:c.332T>G, NM_001322141.2:c.641T>C, NM_001322141.2:c.641T>G, NM_001322141.1:c.641T>C, NM_001322141.1:c.641T>G, NM_001322143.2:c.641T>C, NM_001322143.2:c.641T>G, NM_001322143.1:c.641T>C, NM_001322143.1:c.641T>G, NM_001322146.2:c.416T>C, NM_001322146.2:c.416T>G, NM_001322146.1:c.416T>C, NM_001322146.1:c.416T>G, NM_001322148.2:c.416T>C, NM_001322148.2:c.416T>G, NM_001322148.1:c.416T>C, NM_001322148.1:c.416T>G, NM_001322172.2:c.224T>C, NM_001322172.2:c.224T>G, NM_001322172.1:c.224T>C, NM_001322172.1:c.224T>G, NM_001322150.2:c.224T>C, NM_001322150.2:c.224T>G, NM_001322150.1:c.224T>C, NM_001322150.1:c.224T>G, NM_001322160.2:c.416T>C, NM_001322160.2:c.416T>G, NM_001322160.1:c.416T>C, NM_001322160.1:c.416T>G, NM_001322144.2:c.641T>C, NM_001322144.2:c.641T>G, NM_001322144.1:c.641T>C, NM_001322144.1:c.641T>G, NM_001322145.2:c.455T>C, NM_001322145.2:c.455T>G, NM_001322145.1:c.455T>C, NM_001322145.1:c.455T>G, NM_001322142.2:c.518T>C, NM_001322142.2:c.518T>G, NM_001322142.1:c.518T>C, NM_001322142.1:c.518T>G, NM_001322155.2:c.224T>C, NM_001322155.2:c.224T>G, NM_001322155.1:c.224T>C, NM_001322155.1:c.224T>G, NR_136211.2:n.694T>C, NR_136211.2:n.694T>G, NR_136211.1:n.696T>C, NR_136211.1:n.696T>G, NM_001322173.2:c.224T>C, NM_001322173.2:c.224T>G, NM_001322173.1:c.224T>C, NM_001322173.1:c.224T>G, NM_001322163.2:c.332T>C, NM_001322163.2:c.332T>G, NM_001322163.1:c.332T>C, NM_001322163.1:c.332T>G, NM_001322147.2:c.455T>C, NM_001322147.2:c.455T>G, NM_001322147.1:c.455T>C, NM_001322147.1:c.455T>G, NM_001322175.2:c.224T>C, NM_001322175.2:c.224T>G, NM_001322175.1:c.224T>C, NM_001322175.1:c.224T>G, NM_001322153.2:c.224T>C, NM_001322153.2:c.224T>G, NM_001322153.1:c.224T>C, NM_001322153.1:c.224T>G, NM_001322174.2:c.224T>C, NM_001322174.2:c.224T>G, NM_001322174.1:c.224T>C, NM_001322174.1:c.224T>G, NM_001322171.2:c.224T>C, NM_001322171.2:c.224T>G, NM_001322171.1:c.224T>C, NM_001322171.1:c.224T>G, NM_001322167.2:c.332T>C, NM_001322167.2:c.332T>G, NM_001322167.1:c.332T>C, NM_001322167.1:c.332T>G, NR_136206.2:n.508T>C, NR_136206.2:n.508T>G, NR_136206.1:n.510T>C, NR_136206.1:n.510T>G, NM_001322166.2:c.332T>C, NM_001322166.2:c.332T>G, NM_001322166.1:c.332T>C, NM_001322166.1:c.332T>G, NM_001322169.2:c.332T>C, NM_001322169.2:c.332T>G, NM_001322169.1:c.332T>C, NM_001322169.1:c.332T>G, NR_136212.1:n.615T>C, NR_136212.1:n.615T>G, XM_017028580.2:c.518T>C, XM_017028580.2:c.518T>G, XM_017028580.1:c.518T>C, XM_017028580.1:c.518T>G, XM_017028579.2:c.518T>C, XM_017028579.2:c.518T>G, XM_017028579.1:c.518T>C, XM_017028579.1:c.518T>G, XM_017028577.2:c.518T>C, XM_017028577.2:c.518T>G, XM_017028577.1:c.518T>C, XM_017028577.1:c.518T>G, XM_017028585.2:c.332T>C, XM_017028585.2:c.332T>G, XM_017028585.1:c.332T>C, XM_017028585.1:c.332T>G, XM_017028586.2:c.332T>C, XM_017028586.2:c.332T>G, XM_017028586.1:c.332T>C, XM_017028586.1:c.332T>G, XM_047441118.1:c.641T>C, XM_047441118.1:c.641T>G, XM_047441121.1:c.455T>C, XM_047441121.1:c.455T>G, XM_047441119.1:c.455T>C, XM_047441119.1:c.455T>G, XM_047441120.1:c.455T>C, XM_047441120.1:c.455T>G, XM_047441124.1:c.518T>C, XM_047441124.1:c.518T>G, XM_047441123.1:c.641T>C, XM_047441123.1:c.641T>G, XM_047441126.1:c.675T>C, XM_047441126.1:c.675T>G, XM_047441125.1:c.675T>C, XM_047441125.1:c.675T>G, XM_047441128.1:c.641T>C, XM_047441128.1:c.641T>G, XM_047441127.1:c.675T>C, XM_047441127.1:c.675T>G, NP_690870.3:p.Leu173Pro, NP_690870.3:p.Leu173Arg, NP_001270035.1:p.Leu173Pro, NP_001270035.1:p.Leu173Arg, NP_001270058.1:p.Leu214Pro, NP_001270058.1:p.Leu214Arg, NP_001270083.1:p.Leu173Pro, NP_001270083.1:p.Leu173Arg, NP_001270045.1:p.Leu173Pro, NP_001270045.1:p.Leu173Arg, NP_001270077.1:p.Leu173Pro, NP_001270077.1:p.Leu173Arg, NP_001270108.1:p.Leu111Pro, NP_001270108.1:p.Leu111Arg, NP_001270164.1:p.Leu75Pro, NP_001270164.1:p.Leu75Arg, NP_001270115.1:p.Leu111Pro, NP_001270115.1:p.Leu111Arg, NP_001309070.1:p.Leu214Pro, NP_001309070.1:p.Leu214Arg, NP_001309072.1:p.Leu214Pro, NP_001309072.1:p.Leu214Arg, NP_001309075.1:p.Leu139Pro, NP_001309075.1:p.Leu139Arg, NP_001309077.1:p.Leu139Pro, NP_001309077.1:p.Leu139Arg, NP_001309101.1:p.Leu75Pro, NP_001309101.1:p.Leu75Arg, NP_001309079.1:p.Leu75Pro, NP_001309079.1:p.Leu75Arg, NP_001309089.1:p.Leu139Pro, NP_001309089.1:p.Leu139Arg, NP_001309073.1:p.Leu214Pro, NP_001309073.1:p.Leu214Arg, NP_001309074.1:p.Leu152Pro, NP_001309074.1:p.Leu152Arg, NP_001309071.1:p.Leu173Pro, NP_001309071.1:p.Leu173Arg, NP_001309084.1:p.Leu75Pro, NP_001309084.1:p.Leu75Arg, NP_001309102.1:p.Leu75Pro, NP_001309102.1:p.Leu75Arg, NP_001309092.1:p.Leu111Pro, NP_001309092.1:p.Leu111Arg, NP_001309076.1:p.Leu152Pro, NP_001309076.1:p.Leu152Arg, NP_001309104.1:p.Leu75Pro, NP_001309104.1:p.Leu75Arg, NP_001309082.1:p.Leu75Pro, NP_001309082.1:p.Leu75Arg, NP_001309103.1:p.Leu75Pro, NP_001309103.1:p.Leu75Arg, NP_001309100.1:p.Leu75Pro, NP_001309100.1:p.Leu75Arg, NP_001309096.1:p.Leu111Pro, NP_001309096.1:p.Leu111Arg, NP_001309095.1:p.Leu111Pro, NP_001309095.1:p.Leu111Arg, NP_001309098.1:p.Leu111Pro, NP_001309098.1:p.Leu111Arg, XP_016884069.1:p.Leu173Pro, XP_016884069.1:p.Leu173Arg, XP_016884068.1:p.Leu173Pro, XP_016884068.1:p.Leu173Arg, XP_016884066.1:p.Leu173Pro, XP_016884066.1:p.Leu173Arg, XP_016884074.1:p.Leu111Pro, XP_016884074.1:p.Leu111Arg, XP_016884075.1:p.Leu111Pro, XP_016884075.1:p.Leu111Arg, XP_047297074.1:p.Leu214Pro, XP_047297074.1:p.Leu214Arg, XP_047297077.1:p.Leu152Pro, XP_047297077.1:p.Leu152Arg, XP_047297075.1:p.Leu152Pro, XP_047297075.1:p.Leu152Arg, XP_047297076.1:p.Leu152Pro, XP_047297076.1:p.Leu152Arg, XP_047297080.1:p.Leu173Pro, XP_047297080.1:p.Leu173Arg, XP_047297079.1:p.Leu214Pro, XP_047297079.1:p.Leu214Arg, XP_047297084.1:p.Leu214Pro, XP_047297084.1:p.Leu214Arg

                8.

                rs1456964778 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  22:20052573 (GRCh38)
                  22:20040096 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:20052572:C:A,NC_000022.11:20052572:C:T
                  Gene:
                  TANGO2 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000005/1 (GnomAD_exomes)
                  HGVS:
                  NC_000022.11:g.20052573C>A, NC_000022.11:g.20052573C>T, NC_000022.10:g.20040096C>A, NC_000022.10:g.20040096C>T, NG_046857.1:g.40574C>A, NG_046857.1:g.40574C>T, NM_152906.7:c.254C>A, NM_152906.7:c.254C>T, NM_152906.6:c.254C>A, NM_152906.6:c.254C>T, NM_152906.5:c.254C>A, NM_152906.5:c.254C>T, NM_152906.4:c.254C>A, NM_152906.4:c.254C>T, NM_001283106.3:c.254C>A, NM_001283106.3:c.254C>T, NM_001283106.2:c.254C>A, NM_001283106.2:c.254C>T, NM_001283106.1:c.254C>A, NM_001283106.1:c.254C>T, NM_001283129.3:c.377C>A, NM_001283129.3:c.377C>T, NM_001283129.2:c.377C>A, NM_001283129.2:c.377C>T, NM_001283129.1:c.377C>A, NM_001283129.1:c.377C>T, NM_001283154.3:c.254C>A, NM_001283154.3:c.254C>T, NM_001283154.2:c.254C>A, NM_001283154.2:c.254C>T, NM_001283154.1:c.254C>A, NM_001283154.1:c.254C>T, NM_001283116.3:c.254C>A, NM_001283116.3:c.254C>T, NM_001283116.2:c.254C>A, NM_001283116.2:c.254C>T, NM_001283116.1:c.254C>A, NM_001283116.1:c.254C>T, NM_001283148.3:c.254C>A, NM_001283148.3:c.254C>T, NM_001283148.2:c.254C>A, NM_001283148.2:c.254C>T, NM_001283148.1:c.254C>A, NM_001283148.1:c.254C>T, NM_001283215.3:c.377C>A, NM_001283215.3:c.377C>T, NM_001283215.2:c.377C>A, NM_001283215.2:c.377C>T, NM_001283215.1:c.377C>A, NM_001283215.1:c.377C>T, NR_104275.3:n.558C>A, NR_104275.3:n.558C>T, NR_104275.2:n.599C>A, NR_104275.2:n.599C>T, NR_104275.1:n.533C>A, NR_104275.1:n.533C>T, NM_001283179.3:c.254C>A, NM_001283179.3:c.254C>T, NM_001283179.2:c.254C>A, NM_001283179.2:c.254C>T, NM_001283179.1:c.254C>A, NM_001283179.1:c.254C>T, NM_001283199.3:c.254C>A, NM_001283199.3:c.254C>T, NM_001283199.2:c.254C>A, NM_001283199.2:c.254C>T, NM_001283199.1:c.254C>A, NM_001283199.1:c.254C>T, NM_001283235.3:c.75C>A, NM_001283235.3:c.75C>T, NM_001283235.2:c.75C>A, NM_001283235.2:c.75C>T, NM_001283235.1:c.75C>A, NM_001283235.1:c.75C>T, NM_001283186.3:c.254C>A, NM_001283186.3:c.254C>T, NM_001283186.2:c.254C>A, NM_001283186.2:c.254C>T, NM_001283186.1:c.254C>A, NM_001283186.1:c.254C>T, NR_104274.3:n.318C>A, NR_104274.3:n.318C>T, NR_104274.2:n.359C>A, NR_104274.2:n.359C>T, NR_104274.1:n.359C>A, NR_104274.1:n.359C>T, NM_001283248.3:c.254C>A, NM_001283248.3:c.254C>T, NM_001283248.2:c.254C>A, NM_001283248.2:c.254C>T, NM_001283248.1:c.254C>A, NM_001283248.1:c.254C>T, NM_001322141.2:c.377C>A, NM_001322141.2:c.377C>T, NM_001322141.1:c.377C>A, NM_001322141.1:c.377C>T, NM_001322143.2:c.377C>A, NM_001322143.2:c.377C>T, NM_001322143.1:c.377C>A, NM_001322143.1:c.377C>T, NM_001322146.2:c.75C>A, NM_001322146.2:c.75C>T, NM_001322146.1:c.75C>A, NM_001322146.1:c.75C>T, NM_001322148.2:c.75C>A, NM_001322148.2:c.75C>T, NM_001322148.1:c.75C>A, NM_001322148.1:c.75C>T, NM_001322172.2:c.75C>A, NM_001322172.2:c.75C>T, NM_001322172.1:c.75C>A, NM_001322172.1:c.75C>T, NM_001322150.2:c.75C>A, NM_001322150.2:c.75C>T, NM_001322150.1:c.75C>A, NM_001322150.1:c.75C>T, NM_001322160.2:c.75C>A, NM_001322160.2:c.75C>T, NM_001322160.1:c.75C>A, NM_001322160.1:c.75C>T, NM_001322144.2:c.377C>A, NM_001322144.2:c.377C>T, NM_001322144.1:c.377C>A, NM_001322144.1:c.377C>T, NM_001322145.2:c.377C>A, NM_001322145.2:c.377C>T, NM_001322145.1:c.377C>A, NM_001322145.1:c.377C>T, NM_001322142.2:c.254C>A, NM_001322142.2:c.254C>T, NM_001322142.1:c.254C>A, NM_001322142.1:c.254C>T, NM_001322155.2:c.75C>A, NM_001322155.2:c.75C>T, NM_001322155.1:c.75C>A, NM_001322155.1:c.75C>T, NR_136211.2:n.430C>A, NR_136211.2:n.430C>T, NR_136211.1:n.432C>A, NR_136211.1:n.432C>T, NM_001322173.2:c.75C>A, NM_001322173.2:c.75C>T, NM_001322173.1:c.75C>A, NM_001322173.1:c.75C>T, NM_001322163.2:c.254C>A, NM_001322163.2:c.254C>T, NM_001322163.1:c.254C>A, NM_001322163.1:c.254C>T, NM_001322147.2:c.377C>A, NM_001322147.2:c.377C>T, NM_001322147.1:c.377C>A, NM_001322147.1:c.377C>T, NM_001322175.2:c.75C>A, NM_001322175.2:c.75C>T, NM_001322175.1:c.75C>A, NM_001322175.1:c.75C>T, NM_001322153.2:c.75C>A, NM_001322153.2:c.75C>T, NM_001322153.1:c.75C>A, NM_001322153.1:c.75C>T, NM_001322174.2:c.75C>A, NM_001322174.2:c.75C>T, NM_001322174.1:c.75C>A, NM_001322174.1:c.75C>T, NM_001322149.2:c.377C>A, NM_001322149.2:c.377C>T, NM_001322149.1:c.377C>A, NM_001322149.1:c.377C>T, NM_001322171.2:c.75C>A, NM_001322171.2:c.75C>T, NM_001322171.1:c.75C>A, NM_001322171.1:c.75C>T, NM_001322167.2:c.254C>A, NM_001322167.2:c.254C>T, NM_001322167.1:c.254C>A, NM_001322167.1:c.254C>T, NR_136206.2:n.430C>A, NR_136206.2:n.430C>T, NR_136206.1:n.432C>A, NR_136206.1:n.432C>T, NM_001322166.2:c.254C>A, NM_001322166.2:c.254C>T, NM_001322166.1:c.254C>A, NM_001322166.1:c.254C>T, NM_001322169.2:c.254C>A, NM_001322169.2:c.254C>T, NM_001322169.1:c.254C>A, NM_001322169.1:c.254C>T, NR_136212.1:n.432C>A, NR_136212.1:n.432C>T, XM_017028580.2:c.254C>A, XM_017028580.2:c.254C>T, XM_017028580.1:c.254C>A, XM_017028580.1:c.254C>T, XM_017028579.2:c.254C>A, XM_017028579.2:c.254C>T, XM_017028579.1:c.254C>A, XM_017028579.1:c.254C>T, XM_017028577.2:c.254C>A, XM_017028577.2:c.254C>T, XM_017028577.1:c.254C>A, XM_017028577.1:c.254C>T, XM_017028585.2:c.254C>A, XM_017028585.2:c.254C>T, XM_017028585.1:c.254C>A, XM_017028585.1:c.254C>T, XM_017028586.2:c.254C>A, XM_017028586.2:c.254C>T, XM_017028586.1:c.254C>A, XM_017028586.1:c.254C>T, XM_047441118.1:c.377C>A, XM_047441118.1:c.377C>T, XM_047441121.1:c.377C>A, XM_047441121.1:c.377C>T, XM_047441119.1:c.377C>A, XM_047441119.1:c.377C>T, XM_047441120.1:c.377C>A, XM_047441120.1:c.377C>T, XM_047441122.1:c.377C>A, XM_047441122.1:c.377C>T, XM_047441124.1:c.254C>A, XM_047441124.1:c.254C>T, XM_047441131.1:c.377C>A, XM_047441131.1:c.377C>T, XM_047441132.1:c.254C>A, XM_047441132.1:c.254C>T, XM_047441123.1:c.377C>A, XM_047441123.1:c.377C>T, XM_047441129.1:c.377C>A, XM_047441129.1:c.377C>T, XM_047441126.1:c.377C>A, XM_047441126.1:c.377C>T, XM_047441125.1:c.377C>A, XM_047441125.1:c.377C>T, XM_047441128.1:c.377C>A, XM_047441128.1:c.377C>T, XM_047441127.1:c.377C>A, XM_047441127.1:c.377C>T, XM_047441130.1:c.377C>A, XM_047441130.1:c.377C>T, NP_690870.3:p.Ala85Asp, NP_690870.3:p.Ala85Val, NP_001270035.1:p.Ala85Asp, NP_001270035.1:p.Ala85Val, NP_001270058.1:p.Ala126Asp, NP_001270058.1:p.Ala126Val, NP_001270083.1:p.Ala85Asp, NP_001270083.1:p.Ala85Val, NP_001270045.1:p.Ala85Asp, NP_001270045.1:p.Ala85Val, NP_001270077.1:p.Ala85Asp, NP_001270077.1:p.Ala85Val, NP_001270144.1:p.Ala126Asp, NP_001270144.1:p.Ala126Val, NP_001270108.1:p.Ala85Asp, NP_001270108.1:p.Ala85Val, NP_001270128.1:p.Ala85Asp, NP_001270128.1:p.Ala85Val, NP_001270115.1:p.Ala85Asp, NP_001270115.1:p.Ala85Val, NP_001270177.1:p.Ala85Asp, NP_001270177.1:p.Ala85Val, NP_001309070.1:p.Ala126Asp, NP_001309070.1:p.Ala126Val, NP_001309072.1:p.Ala126Asp, NP_001309072.1:p.Ala126Val, NP_001309073.1:p.Ala126Asp, NP_001309073.1:p.Ala126Val, NP_001309074.1:p.Ala126Asp, NP_001309074.1:p.Ala126Val, NP_001309071.1:p.Ala85Asp, NP_001309071.1:p.Ala85Val, NP_001309092.1:p.Ala85Asp, NP_001309092.1:p.Ala85Val, NP_001309076.1:p.Ala126Asp, NP_001309076.1:p.Ala126Val, NP_001309078.1:p.Ala126Asp, NP_001309078.1:p.Ala126Val, NP_001309096.1:p.Ala85Asp, NP_001309096.1:p.Ala85Val, NP_001309095.1:p.Ala85Asp, NP_001309095.1:p.Ala85Val, NP_001309098.1:p.Ala85Asp, NP_001309098.1:p.Ala85Val, XP_016884069.1:p.Ala85Asp, XP_016884069.1:p.Ala85Val, XP_016884068.1:p.Ala85Asp, XP_016884068.1:p.Ala85Val, XP_016884066.1:p.Ala85Asp, XP_016884066.1:p.Ala85Val, XP_016884074.1:p.Ala85Asp, XP_016884074.1:p.Ala85Val, XP_016884075.1:p.Ala85Asp, XP_016884075.1:p.Ala85Val, XP_047297074.1:p.Ala126Asp, XP_047297074.1:p.Ala126Val, XP_047297077.1:p.Ala126Asp, XP_047297077.1:p.Ala126Val, XP_047297075.1:p.Ala126Asp, XP_047297075.1:p.Ala126Val, XP_047297076.1:p.Ala126Asp, XP_047297076.1:p.Ala126Val, XP_047297078.1:p.Ala126Asp, XP_047297078.1:p.Ala126Val, XP_047297080.1:p.Ala85Asp, XP_047297080.1:p.Ala85Val, XP_047297087.1:p.Ala126Asp, XP_047297087.1:p.Ala126Val, XP_047297088.1:p.Ala85Asp, XP_047297088.1:p.Ala85Val, XP_047297079.1:p.Ala126Asp, XP_047297079.1:p.Ala126Val, XP_047297085.1:p.Ala126Asp, XP_047297085.1:p.Ala126Val, XP_047297082.1:p.Ala126Asp, XP_047297082.1:p.Ala126Val, XP_047297081.1:p.Ala126Asp, XP_047297081.1:p.Ala126Val, XP_047297084.1:p.Ala126Asp, XP_047297084.1:p.Ala126Val, XP_047297083.1:p.Ala126Asp, XP_047297083.1:p.Ala126Val, XP_047297086.1:p.Ala126Asp, XP_047297086.1:p.Ala126Val

                  9.

                  rs1453968760 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    22:20061569 (GRCh38)
                    22:20049092 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:20061568:G:A
                    Gene:
                    TANGO2 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,stop_gained,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
                    HGVS:
                    NC_000022.11:g.20061569G>A, NC_000022.10:g.20049092G>A, NG_046857.1:g.49570G>A, NM_152906.7:c.491G>A, NM_152906.6:c.491G>A, NM_152906.5:c.491G>A, NM_152906.4:c.491G>A, NM_001283106.3:c.491G>A, NM_001283106.2:c.491G>A, NM_001283106.1:c.491G>A, NM_001283129.3:c.614G>A, NM_001283129.2:c.614G>A, NM_001283129.1:c.614G>A, NM_001283154.3:c.491G>A, NM_001283154.2:c.491G>A, NM_001283154.1:c.491G>A, NM_001283116.3:c.491G>A, NM_001283116.2:c.491G>A, NM_001283116.1:c.491G>A, NM_001283148.3:c.491G>A, NM_001283148.2:c.491G>A, NM_001283148.1:c.491G>A, NM_001283179.3:c.305G>A, NM_001283179.2:c.305G>A, NM_001283179.1:c.305G>A, NM_001283235.3:c.197G>A, NM_001283235.2:c.197G>A, NM_001283235.1:c.197G>A, NM_001283186.3:c.305G>A, NM_001283186.2:c.305G>A, NM_001283186.1:c.305G>A, NM_001322141.2:c.614G>A, NM_001322141.1:c.614G>A, NM_001322143.2:c.614G>A, NM_001322143.1:c.614G>A, NM_001322146.2:c.389G>A, NM_001322146.1:c.389G>A, NM_001322148.2:c.389G>A, NM_001322148.1:c.389G>A, NM_001322172.2:c.197G>A, NM_001322172.1:c.197G>A, NM_001322150.2:c.197G>A, NM_001322150.1:c.197G>A, NM_001322160.2:c.389G>A, NM_001322160.1:c.389G>A, NM_001322144.2:c.614G>A, NM_001322144.1:c.614G>A, NM_001322145.2:c.428G>A, NM_001322145.1:c.428G>A, NM_001322142.2:c.491G>A, NM_001322142.1:c.491G>A, NM_001322155.2:c.197G>A, NM_001322155.1:c.197G>A, NR_136211.2:n.667G>A, NR_136211.1:n.669G>A, NM_001322173.2:c.197G>A, NM_001322173.1:c.197G>A, NM_001322163.2:c.305G>A, NM_001322163.1:c.305G>A, NM_001322147.2:c.428G>A, NM_001322147.1:c.428G>A, NM_001322175.2:c.197G>A, NM_001322175.1:c.197G>A, NM_001322153.2:c.197G>A, NM_001322153.1:c.197G>A, NM_001322174.2:c.197G>A, NM_001322174.1:c.197G>A, NM_001322171.2:c.197G>A, NM_001322171.1:c.197G>A, NM_001322167.2:c.305G>A, NM_001322167.1:c.305G>A, NR_136206.2:n.481G>A, NR_136206.1:n.483G>A, NM_001322166.2:c.305G>A, NM_001322166.1:c.305G>A, NM_001322169.2:c.305G>A, NM_001322169.1:c.305G>A, NR_136212.1:n.588G>A, XM_017028580.2:c.491G>A, XM_017028580.1:c.491G>A, XM_017028579.2:c.491G>A, XM_017028579.1:c.491G>A, XM_017028577.2:c.491G>A, XM_017028577.1:c.491G>A, XM_017028585.2:c.305G>A, XM_017028585.1:c.305G>A, XM_017028586.2:c.305G>A, XM_017028586.1:c.305G>A, XM_047441118.1:c.614G>A, XM_047441121.1:c.428G>A, XM_047441119.1:c.428G>A, XM_047441120.1:c.428G>A, XM_047441124.1:c.491G>A, XM_047441123.1:c.614G>A, XM_047441126.1:c.648G>A, XM_047441125.1:c.648G>A, XM_047441128.1:c.614G>A, XM_047441127.1:c.648G>A, NP_690870.3:p.Trp164Ter, NP_001270035.1:p.Trp164Ter, NP_001270058.1:p.Trp205Ter, NP_001270083.1:p.Trp164Ter, NP_001270045.1:p.Trp164Ter, NP_001270077.1:p.Trp164Ter, NP_001270108.1:p.Trp102Ter, NP_001270164.1:p.Trp66Ter, NP_001270115.1:p.Trp102Ter, NP_001309070.1:p.Trp205Ter, NP_001309072.1:p.Trp205Ter, NP_001309075.1:p.Trp130Ter, NP_001309077.1:p.Trp130Ter, NP_001309101.1:p.Trp66Ter, NP_001309079.1:p.Trp66Ter, NP_001309089.1:p.Trp130Ter, NP_001309073.1:p.Trp205Ter, NP_001309074.1:p.Trp143Ter, NP_001309071.1:p.Trp164Ter, NP_001309084.1:p.Trp66Ter, NP_001309102.1:p.Trp66Ter, NP_001309092.1:p.Trp102Ter, NP_001309076.1:p.Trp143Ter, NP_001309104.1:p.Trp66Ter, NP_001309082.1:p.Trp66Ter, NP_001309103.1:p.Trp66Ter, NP_001309100.1:p.Trp66Ter, NP_001309096.1:p.Trp102Ter, NP_001309095.1:p.Trp102Ter, NP_001309098.1:p.Trp102Ter, XP_016884069.1:p.Trp164Ter, XP_016884068.1:p.Trp164Ter, XP_016884066.1:p.Trp164Ter, XP_016884074.1:p.Trp102Ter, XP_016884075.1:p.Trp102Ter, XP_047297074.1:p.Trp205Ter, XP_047297077.1:p.Trp143Ter, XP_047297075.1:p.Trp143Ter, XP_047297076.1:p.Trp143Ter, XP_047297080.1:p.Trp164Ter, XP_047297079.1:p.Trp205Ter, XP_047297084.1:p.Trp205Ter

                    10.

                    rs1452437439 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      22:20061563 (GRCh38)
                      22:20049086 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:20061562:C:T
                      Gene:
                      TANGO2 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,synonymous_variant,missense_variant,coding_sequence_variant
                      HGVS:
                      NC_000022.11:g.20061563C>T, NC_000022.10:g.20049086C>T, NG_046857.1:g.49564C>T, NM_152906.7:c.485C>T, NM_152906.6:c.485C>T, NM_152906.5:c.485C>T, NM_152906.4:c.485C>T, NM_001283106.3:c.485C>T, NM_001283106.2:c.485C>T, NM_001283106.1:c.485C>T, NM_001283129.3:c.608C>T, NM_001283129.2:c.608C>T, NM_001283129.1:c.608C>T, NM_001283154.3:c.485C>T, NM_001283154.2:c.485C>T, NM_001283154.1:c.485C>T, NM_001283116.3:c.485C>T, NM_001283116.2:c.485C>T, NM_001283116.1:c.485C>T, NM_001283148.3:c.485C>T, NM_001283148.2:c.485C>T, NM_001283148.1:c.485C>T, NM_001283179.3:c.299C>T, NM_001283179.2:c.299C>T, NM_001283179.1:c.299C>T, NM_001283235.3:c.191C>T, NM_001283235.2:c.191C>T, NM_001283235.1:c.191C>T, NM_001283186.3:c.299C>T, NM_001283186.2:c.299C>T, NM_001283186.1:c.299C>T, NM_001322141.2:c.608C>T, NM_001322141.1:c.608C>T, NM_001322143.2:c.608C>T, NM_001322143.1:c.608C>T, NM_001322146.2:c.383C>T, NM_001322146.1:c.383C>T, NM_001322148.2:c.383C>T, NM_001322148.1:c.383C>T, NM_001322172.2:c.191C>T, NM_001322172.1:c.191C>T, NM_001322150.2:c.191C>T, NM_001322150.1:c.191C>T, NM_001322160.2:c.383C>T, NM_001322160.1:c.383C>T, NM_001322144.2:c.608C>T, NM_001322144.1:c.608C>T, NM_001322145.2:c.422C>T, NM_001322145.1:c.422C>T, NM_001322142.2:c.485C>T, NM_001322142.1:c.485C>T, NM_001322155.2:c.191C>T, NM_001322155.1:c.191C>T, NR_136211.2:n.661C>T, NR_136211.1:n.663C>T, NM_001322173.2:c.191C>T, NM_001322173.1:c.191C>T, NM_001322163.2:c.299C>T, NM_001322163.1:c.299C>T, NM_001322147.2:c.422C>T, NM_001322147.1:c.422C>T, NM_001322175.2:c.191C>T, NM_001322175.1:c.191C>T, NM_001322153.2:c.191C>T, NM_001322153.1:c.191C>T, NM_001322174.2:c.191C>T, NM_001322174.1:c.191C>T, NM_001322171.2:c.191C>T, NM_001322171.1:c.191C>T, NM_001322167.2:c.299C>T, NM_001322167.1:c.299C>T, NR_136206.2:n.475C>T, NR_136206.1:n.477C>T, NM_001322166.2:c.299C>T, NM_001322166.1:c.299C>T, NM_001322169.2:c.299C>T, NM_001322169.1:c.299C>T, NR_136212.1:n.582C>T, XM_017028580.2:c.485C>T, XM_017028580.1:c.485C>T, XM_017028579.2:c.485C>T, XM_017028579.1:c.485C>T, XM_017028577.2:c.485C>T, XM_017028577.1:c.485C>T, XM_017028585.2:c.299C>T, XM_017028585.1:c.299C>T, XM_017028586.2:c.299C>T, XM_017028586.1:c.299C>T, XM_047441118.1:c.608C>T, XM_047441121.1:c.422C>T, XM_047441119.1:c.422C>T, XM_047441120.1:c.422C>T, XM_047441124.1:c.485C>T, XM_047441123.1:c.608C>T, XM_047441126.1:c.642C>T, XM_047441125.1:c.642C>T, XM_047441128.1:c.608C>T, XM_047441127.1:c.642C>T, NP_690870.3:p.Thr162Ile, NP_001270035.1:p.Thr162Ile, NP_001270058.1:p.Thr203Ile, NP_001270083.1:p.Thr162Ile, NP_001270045.1:p.Thr162Ile, NP_001270077.1:p.Thr162Ile, NP_001270108.1:p.Thr100Ile, NP_001270164.1:p.Thr64Ile, NP_001270115.1:p.Thr100Ile, NP_001309070.1:p.Thr203Ile, NP_001309072.1:p.Thr203Ile, NP_001309075.1:p.Thr128Ile, NP_001309077.1:p.Thr128Ile, NP_001309101.1:p.Thr64Ile, NP_001309079.1:p.Thr64Ile, NP_001309089.1:p.Thr128Ile, NP_001309073.1:p.Thr203Ile, NP_001309074.1:p.Thr141Ile, NP_001309071.1:p.Thr162Ile, NP_001309084.1:p.Thr64Ile, NP_001309102.1:p.Thr64Ile, NP_001309092.1:p.Thr100Ile, NP_001309076.1:p.Thr141Ile, NP_001309104.1:p.Thr64Ile, NP_001309082.1:p.Thr64Ile, NP_001309103.1:p.Thr64Ile, NP_001309100.1:p.Thr64Ile, NP_001309096.1:p.Thr100Ile, NP_001309095.1:p.Thr100Ile, NP_001309098.1:p.Thr100Ile, XP_016884069.1:p.Thr162Ile, XP_016884068.1:p.Thr162Ile, XP_016884066.1:p.Thr162Ile, XP_016884074.1:p.Thr100Ile, XP_016884075.1:p.Thr100Ile, XP_047297074.1:p.Thr203Ile, XP_047297077.1:p.Thr141Ile, XP_047297075.1:p.Thr141Ile, XP_047297076.1:p.Thr141Ile, XP_047297080.1:p.Thr162Ile, XP_047297079.1:p.Thr203Ile, XP_047297084.1:p.Thr203Ile

                      11.

                      rs1452044982 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        22:20055946 (GRCh38)
                        22:20043469 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:20055945:A:C
                        Gene:
                        TANGO2 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000022.11:g.20055946A>C, NC_000022.10:g.20043469A>C, NG_046857.1:g.43947A>C, NM_152906.7:c.384A>C, NM_152906.6:c.384A>C, NM_152906.5:c.384A>C, NM_152906.4:c.384A>C, NM_001283106.3:c.384A>C, NM_001283106.2:c.384A>C, NM_001283106.1:c.384A>C, NM_001283129.3:c.507A>C, NM_001283129.2:c.507A>C, NM_001283129.1:c.507A>C, NM_001283154.3:c.384A>C, NM_001283154.2:c.384A>C, NM_001283154.1:c.384A>C, NM_001283116.3:c.384A>C, NM_001283116.2:c.384A>C, NM_001283116.1:c.384A>C, NM_001283148.3:c.384A>C, NM_001283148.2:c.384A>C, NM_001283148.1:c.384A>C, NM_001283215.3:c.507A>C, NM_001283215.2:c.507A>C, NM_001283215.1:c.507A>C, NR_104275.3:n.573A>C, NR_104275.2:n.614A>C, NR_104275.1:n.548A>C, NM_001283235.3:c.90A>C, NM_001283235.2:c.90A>C, NM_001283235.1:c.90A>C, NR_104274.3:n.333A>C, NR_104274.2:n.374A>C, NR_104274.1:n.374A>C, NM_001322141.2:c.507A>C, NM_001322141.1:c.507A>C, NM_001322143.2:c.507A>C, NM_001322143.1:c.507A>C, NM_001322146.2:c.282A>C, NM_001322146.1:c.282A>C, NM_001322148.2:c.282A>C, NM_001322148.1:c.282A>C, NM_001322172.2:c.90A>C, NM_001322172.1:c.90A>C, NM_001322150.2:c.90A>C, NM_001322150.1:c.90A>C, NM_001322160.2:c.282A>C, NM_001322160.1:c.282A>C, NM_001322144.2:c.507A>C, NM_001322144.1:c.507A>C, NM_001322142.2:c.384A>C, NM_001322142.1:c.384A>C, NM_001322155.2:c.90A>C, NM_001322155.1:c.90A>C, NR_136211.2:n.560A>C, NR_136211.1:n.562A>C, NM_001322173.2:c.90A>C, NM_001322173.1:c.90A>C, NM_001322175.2:c.90A>C, NM_001322175.1:c.90A>C, NM_001322153.2:c.90A>C, NM_001322153.1:c.90A>C, NM_001322174.2:c.90A>C, NM_001322174.1:c.90A>C, NM_001322171.2:c.90A>C, NM_001322171.1:c.90A>C, NR_136212.1:n.447A>C, XM_017028580.2:c.384A>C, XM_017028580.1:c.384A>C, XM_017028579.2:c.384A>C, XM_017028579.1:c.384A>C, XM_017028577.2:c.384A>C, XM_017028577.1:c.384A>C, XM_047441118.1:c.507A>C, XM_047441124.1:c.384A>C, XM_047441123.1:c.507A>C, XM_047441129.1:c.507A>C, XM_047441126.1:c.507A>C, XM_047441125.1:c.507A>C, XM_047441128.1:c.507A>C, XM_047441127.1:c.507A>C, XM_047441130.1:c.507A>C

                        12.

                        rs1448152549 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          22:20063362 (GRCh38)
                          22:20050885 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:20063361:G:T
                          Gene:
                          TANGO2 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,stop_gained,genic_downstream_transcript_variant,intron_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000047/1 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          T=0.000035/1 (TOMMO)
                          HGVS:
                          NC_000022.11:g.20063362G>T, NC_000022.10:g.20050885G>T, NG_046857.1:g.51363G>T, NM_152906.7:c.630G>T, NM_152906.6:c.630G>T, NM_152906.5:c.630G>T, NM_152906.4:c.630G>T, NM_001283106.3:c.630G>T, NM_001283106.2:c.630G>T, NM_001283106.1:c.630G>T, NM_001283129.3:c.753G>T, NM_001283129.2:c.753G>T, NM_001283129.1:c.753G>T, NM_001283154.3:c.628G>T, NM_001283154.2:c.628G>T, NM_001283154.1:c.628G>T, NM_001283116.3:c.630G>T, NM_001283116.2:c.630G>T, NM_001283116.1:c.630G>T, NM_001283148.3:c.628G>T, NM_001283148.2:c.628G>T, NM_001283148.1:c.628G>T, NR_104275.3:n.665G>T, NR_104275.2:n.706G>T, NR_104275.1:n.640G>T, NM_001283179.3:c.444G>T, NM_001283179.2:c.444G>T, NM_001283179.1:c.444G>T, NM_001283199.3:c.405G>T, NM_001283199.2:c.405G>T, NM_001283199.1:c.405G>T, NM_001283235.3:c.336G>T, NM_001283235.2:c.336G>T, NM_001283235.1:c.336G>T, NM_001283186.3:c.444G>T, NM_001283186.2:c.444G>T, NM_001283186.1:c.444G>T, NR_104274.3:n.425G>T, NR_104274.2:n.466G>T, NR_104274.1:n.466G>T, NM_001283248.3:c.290G>T, NM_001283248.2:c.290G>T, NM_001283248.1:c.290G>T, NM_001322141.2:c.753G>T, NM_001322141.1:c.753G>T, NM_001322143.2:c.753G>T, NM_001322143.1:c.753G>T, NM_001322146.2:c.528G>T, NM_001322146.1:c.528G>T, NM_001322148.2:c.528G>T, NM_001322148.1:c.528G>T, NM_001322172.2:c.336G>T, NM_001322172.1:c.336G>T, NM_001322150.2:c.336G>T, NM_001322150.1:c.336G>T, NM_001322160.2:c.526G>T, NM_001322160.1:c.526G>T, NM_001322144.2:c.751G>T, NM_001322144.1:c.751G>T, NM_001322145.2:c.567G>T, NM_001322145.1:c.567G>T, NM_001322142.2:c.630G>T, NM_001322142.1:c.630G>T, NM_001322155.2:c.336G>T, NM_001322155.1:c.336G>T, NR_136211.2:n.829G>T, NR_136211.1:n.831G>T, NM_001322173.2:c.336G>T, NM_001322173.1:c.336G>T, NM_001322163.2:c.444G>T, NM_001322163.1:c.444G>T, NM_001322147.2:c.567G>T, NM_001322147.1:c.567G>T, NM_001322175.2:c.336G>T, NM_001322175.1:c.336G>T, NM_001322153.2:c.336G>T, NM_001322153.1:c.336G>T, NM_001322174.2:c.336G>T, NM_001322174.1:c.336G>T, NM_001322149.2:c.528G>T, NM_001322149.1:c.528G>T, NM_001322171.2:c.336G>T, NM_001322171.1:c.336G>T, NM_001322167.2:c.444G>T, NM_001322167.1:c.444G>T, NR_136206.2:n.643G>T, NR_136206.1:n.645G>T, NM_001322166.2:c.444G>T, NM_001322166.1:c.444G>T, NM_001322169.2:c.442G>T, NM_001322169.1:c.442G>T, NR_136212.1:n.727G>T, XM_017028580.2:c.630G>T, XM_017028580.1:c.630G>T, XM_017028579.2:c.630G>T, XM_017028579.1:c.630G>T, XM_017028577.2:c.630G>T, XM_017028577.1:c.630G>T, XM_017028585.2:c.444G>T, XM_017028585.1:c.444G>T, XM_017028586.2:c.444G>T, XM_017028586.1:c.444G>T, XM_047441118.1:c.753G>T, XM_047441121.1:c.567G>T, XM_047441119.1:c.567G>T, XM_047441120.1:c.567G>T, XM_047441122.1:c.528G>T, XM_047441124.1:c.630G>T, XM_047441131.1:c.528G>T, XM_047441132.1:c.405G>T, XM_047441123.1:c.833G>T, XM_047441126.1:c.*54G>T, XM_047441125.1:c.*31G>T, XM_047441128.1:c.*44G>T, XM_047441130.1:c.599G>T, NP_690870.3:p.Glu210Asp, NP_001270035.1:p.Glu210Asp, NP_001270058.1:p.Glu251Asp, NP_001270083.1:p.Gly210Ter, NP_001270045.1:p.Glu210Asp, NP_001270077.1:p.Gly210Ter, NP_001270108.1:p.Glu148Asp, NP_001270128.1:p.Glu135Asp, NP_001270164.1:p.Glu112Asp, NP_001270115.1:p.Glu148Asp, NP_001270177.1:p.Arg97Met, NP_001309070.1:p.Glu251Asp, NP_001309072.1:p.Glu251Asp, NP_001309075.1:p.Glu176Asp, NP_001309077.1:p.Glu176Asp, NP_001309101.1:p.Glu112Asp, NP_001309079.1:p.Glu112Asp, NP_001309089.1:p.Gly176Ter, NP_001309073.1:p.Gly251Ter, NP_001309074.1:p.Glu189Asp, NP_001309071.1:p.Glu210Asp, NP_001309084.1:p.Glu112Asp, NP_001309102.1:p.Glu112Asp, NP_001309092.1:p.Glu148Asp, NP_001309076.1:p.Glu189Asp, NP_001309104.1:p.Glu112Asp, NP_001309082.1:p.Glu112Asp, NP_001309103.1:p.Glu112Asp, NP_001309078.1:p.Glu176Asp, NP_001309100.1:p.Glu112Asp, NP_001309096.1:p.Glu148Asp, NP_001309095.1:p.Glu148Asp, NP_001309098.1:p.Gly148Ter, XP_016884069.1:p.Glu210Asp, XP_016884068.1:p.Glu210Asp, XP_016884066.1:p.Glu210Asp, XP_016884074.1:p.Glu148Asp, XP_016884075.1:p.Glu148Asp, XP_047297074.1:p.Glu251Asp, XP_047297077.1:p.Glu189Asp, XP_047297075.1:p.Glu189Asp, XP_047297076.1:p.Glu189Asp, XP_047297078.1:p.Glu176Asp, XP_047297080.1:p.Glu210Asp, XP_047297087.1:p.Glu176Asp, XP_047297088.1:p.Glu135Asp, XP_047297079.1:p.Arg278Met, XP_047297086.1:p.Arg200Met

                          13.

                          rs1442695837 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            22:20061648 (GRCh38)
                            22:20049171 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:20061647:C:T
                            Gene:
                            TANGO2 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,synonymous_variant,missense_variant,coding_sequence_variant
                            Clinical significance:
                            likely-benign
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000008/2 (TOPMED)
                            T=0.000014/2 (GnomAD)
                            HGVS:
                            NC_000022.11:g.20061648C>T, NC_000022.10:g.20049171C>T, NG_046857.1:g.49649C>T, NM_152906.7:c.570C>T, NM_152906.6:c.570C>T, NM_152906.5:c.570C>T, NM_152906.4:c.570C>T, NM_001283106.3:c.570C>T, NM_001283106.2:c.570C>T, NM_001283106.1:c.570C>T, NM_001283129.3:c.693C>T, NM_001283129.2:c.693C>T, NM_001283129.1:c.693C>T, NM_001283154.3:c.570C>T, NM_001283154.2:c.570C>T, NM_001283154.1:c.570C>T, NM_001283116.3:c.570C>T, NM_001283116.2:c.570C>T, NM_001283116.1:c.570C>T, NM_001283148.3:c.570C>T, NM_001283148.2:c.570C>T, NM_001283148.1:c.570C>T, NM_001283179.3:c.384C>T, NM_001283179.2:c.384C>T, NM_001283179.1:c.384C>T, NM_001283235.3:c.276C>T, NM_001283235.2:c.276C>T, NM_001283235.1:c.276C>T, NM_001283186.3:c.384C>T, NM_001283186.2:c.384C>T, NM_001283186.1:c.384C>T, NM_001322141.2:c.693C>T, NM_001322141.1:c.693C>T, NM_001322143.2:c.693C>T, NM_001322143.1:c.693C>T, NM_001322146.2:c.468C>T, NM_001322146.1:c.468C>T, NM_001322148.2:c.468C>T, NM_001322148.1:c.468C>T, NM_001322172.2:c.276C>T, NM_001322172.1:c.276C>T, NM_001322150.2:c.276C>T, NM_001322150.1:c.276C>T, NM_001322160.2:c.468C>T, NM_001322160.1:c.468C>T, NM_001322144.2:c.693C>T, NM_001322144.1:c.693C>T, NM_001322145.2:c.507C>T, NM_001322145.1:c.507C>T, NM_001322142.2:c.570C>T, NM_001322142.1:c.570C>T, NM_001322155.2:c.276C>T, NM_001322155.1:c.276C>T, NR_136211.2:n.746C>T, NR_136211.1:n.748C>T, NM_001322173.2:c.276C>T, NM_001322173.1:c.276C>T, NM_001322163.2:c.384C>T, NM_001322163.1:c.384C>T, NM_001322147.2:c.507C>T, NM_001322147.1:c.507C>T, NM_001322175.2:c.276C>T, NM_001322175.1:c.276C>T, NM_001322153.2:c.276C>T, NM_001322153.1:c.276C>T, NM_001322174.2:c.276C>T, NM_001322174.1:c.276C>T, NM_001322171.2:c.276C>T, NM_001322171.1:c.276C>T, NM_001322167.2:c.384C>T, NM_001322167.1:c.384C>T, NR_136206.2:n.560C>T, NR_136206.1:n.562C>T, NM_001322166.2:c.384C>T, NM_001322166.1:c.384C>T, NM_001322169.2:c.384C>T, NM_001322169.1:c.384C>T, NR_136212.1:n.667C>T, XM_017028580.2:c.570C>T, XM_017028580.1:c.570C>T, XM_017028579.2:c.570C>T, XM_017028579.1:c.570C>T, XM_017028577.2:c.570C>T, XM_017028577.1:c.570C>T, XM_017028585.2:c.384C>T, XM_017028585.1:c.384C>T, XM_017028586.2:c.384C>T, XM_017028586.1:c.384C>T, XM_047441118.1:c.693C>T, XM_047441121.1:c.507C>T, XM_047441119.1:c.507C>T, XM_047441120.1:c.507C>T, XM_047441124.1:c.570C>T, XM_047441123.1:c.693C>T, XM_047441126.1:c.727C>T, XM_047441125.1:c.727C>T, XM_047441128.1:c.693C>T, XM_047441127.1:c.727C>T, XP_047297082.1:p.Arg243Cys, XP_047297081.1:p.Arg243Cys, XP_047297083.1:p.Arg243Cys

                            14.

                            rs1440589482 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              22:20061658 (GRCh38)
                              22:20049181 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:20061657:C:T
                              Gene:
                              TANGO2 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,synonymous_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000006/1 (GnomAD_exomes)
                              HGVS:
                              NC_000022.11:g.20061658C>T, NC_000022.10:g.20049181C>T, NG_046857.1:g.49659C>T, NM_152906.7:c.580C>T, NM_152906.6:c.580C>T, NM_152906.5:c.580C>T, NM_152906.4:c.580C>T, NM_001283106.3:c.580C>T, NM_001283106.2:c.580C>T, NM_001283106.1:c.580C>T, NM_001283129.3:c.703C>T, NM_001283129.2:c.703C>T, NM_001283129.1:c.703C>T, NM_001283154.3:c.580C>T, NM_001283154.2:c.580C>T, NM_001283154.1:c.580C>T, NM_001283116.3:c.580C>T, NM_001283116.2:c.580C>T, NM_001283116.1:c.580C>T, NM_001283148.3:c.580C>T, NM_001283148.2:c.580C>T, NM_001283148.1:c.580C>T, NM_001283179.3:c.394C>T, NM_001283179.2:c.394C>T, NM_001283179.1:c.394C>T, NM_001283235.3:c.286C>T, NM_001283235.2:c.286C>T, NM_001283235.1:c.286C>T, NM_001283186.3:c.394C>T, NM_001283186.2:c.394C>T, NM_001283186.1:c.394C>T, NM_001322141.2:c.703C>T, NM_001322141.1:c.703C>T, NM_001322143.2:c.703C>T, NM_001322143.1:c.703C>T, NM_001322146.2:c.478C>T, NM_001322146.1:c.478C>T, NM_001322148.2:c.478C>T, NM_001322148.1:c.478C>T, NM_001322172.2:c.286C>T, NM_001322172.1:c.286C>T, NM_001322150.2:c.286C>T, NM_001322150.1:c.286C>T, NM_001322160.2:c.478C>T, NM_001322160.1:c.478C>T, NM_001322144.2:c.703C>T, NM_001322144.1:c.703C>T, NM_001322145.2:c.517C>T, NM_001322145.1:c.517C>T, NM_001322142.2:c.580C>T, NM_001322142.1:c.580C>T, NM_001322155.2:c.286C>T, NM_001322155.1:c.286C>T, NR_136211.2:n.756C>T, NR_136211.1:n.758C>T, NM_001322173.2:c.286C>T, NM_001322173.1:c.286C>T, NM_001322163.2:c.394C>T, NM_001322163.1:c.394C>T, NM_001322147.2:c.517C>T, NM_001322147.1:c.517C>T, NM_001322175.2:c.286C>T, NM_001322175.1:c.286C>T, NM_001322153.2:c.286C>T, NM_001322153.1:c.286C>T, NM_001322174.2:c.286C>T, NM_001322174.1:c.286C>T, NM_001322171.2:c.286C>T, NM_001322171.1:c.286C>T, NM_001322167.2:c.394C>T, NM_001322167.1:c.394C>T, NR_136206.2:n.570C>T, NR_136206.1:n.572C>T, NM_001322166.2:c.394C>T, NM_001322166.1:c.394C>T, NM_001322169.2:c.394C>T, NM_001322169.1:c.394C>T, NR_136212.1:n.677C>T, XM_017028580.2:c.580C>T, XM_017028580.1:c.580C>T, XM_017028579.2:c.580C>T, XM_017028579.1:c.580C>T, XM_017028577.2:c.580C>T, XM_017028577.1:c.580C>T, XM_017028585.2:c.394C>T, XM_017028585.1:c.394C>T, XM_017028586.2:c.394C>T, XM_017028586.1:c.394C>T, XM_047441118.1:c.703C>T, XM_047441121.1:c.517C>T, XM_047441119.1:c.517C>T, XM_047441120.1:c.517C>T, XM_047441124.1:c.580C>T, XM_047441123.1:c.703C>T, XM_047441126.1:c.737C>T, XM_047441125.1:c.737C>T, XM_047441128.1:c.703C>T, XM_047441127.1:c.737C>T, XP_047297082.1:p.Pro246Leu, XP_047297081.1:p.Pro246Leu, XP_047297083.1:p.Pro246Leu

                              15.

                              rs1424339303 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                22:20063372 (GRCh38)
                                22:20050895 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:20063371:G:C
                                Gene:
                                TANGO2 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,synonymous_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000031/1 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000022.11:g.20063372G>C, NC_000022.10:g.20050895G>C, NG_046857.1:g.51373G>C, NM_152906.7:c.640G>C, NM_152906.6:c.640G>C, NM_152906.5:c.640G>C, NM_152906.4:c.640G>C, NM_001283106.3:c.640G>C, NM_001283106.2:c.640G>C, NM_001283106.1:c.640G>C, NM_001283129.3:c.763G>C, NM_001283129.2:c.763G>C, NM_001283129.1:c.763G>C, NM_001283154.3:c.638G>C, NM_001283154.2:c.638G>C, NM_001283154.1:c.638G>C, NM_001283116.3:c.640G>C, NM_001283116.2:c.640G>C, NM_001283116.1:c.640G>C, NM_001283148.3:c.638G>C, NM_001283148.2:c.638G>C, NM_001283148.1:c.638G>C, NR_104275.3:n.675G>C, NR_104275.2:n.716G>C, NR_104275.1:n.650G>C, NM_001283179.3:c.454G>C, NM_001283179.2:c.454G>C, NM_001283179.1:c.454G>C, NM_001283199.3:c.415G>C, NM_001283199.2:c.415G>C, NM_001283199.1:c.415G>C, NM_001283235.3:c.346G>C, NM_001283235.2:c.346G>C, NM_001283235.1:c.346G>C, NM_001283186.3:c.454G>C, NM_001283186.2:c.454G>C, NM_001283186.1:c.454G>C, NR_104274.3:n.435G>C, NR_104274.2:n.476G>C, NR_104274.1:n.476G>C, NM_001283248.3:c.300G>C, NM_001283248.2:c.300G>C, NM_001283248.1:c.300G>C, NM_001322141.2:c.763G>C, NM_001322141.1:c.763G>C, NM_001322143.2:c.763G>C, NM_001322143.1:c.763G>C, NM_001322146.2:c.538G>C, NM_001322146.1:c.538G>C, NM_001322148.2:c.538G>C, NM_001322148.1:c.538G>C, NM_001322172.2:c.346G>C, NM_001322172.1:c.346G>C, NM_001322150.2:c.346G>C, NM_001322150.1:c.346G>C, NM_001322160.2:c.536G>C, NM_001322160.1:c.536G>C, NM_001322144.2:c.761G>C, NM_001322144.1:c.761G>C, NM_001322145.2:c.577G>C, NM_001322145.1:c.577G>C, NM_001322142.2:c.640G>C, NM_001322142.1:c.640G>C, NM_001322155.2:c.346G>C, NM_001322155.1:c.346G>C, NR_136211.2:n.839G>C, NR_136211.1:n.841G>C, NM_001322173.2:c.346G>C, NM_001322173.1:c.346G>C, NM_001322163.2:c.454G>C, NM_001322163.1:c.454G>C, NM_001322147.2:c.577G>C, NM_001322147.1:c.577G>C, NM_001322175.2:c.346G>C, NM_001322175.1:c.346G>C, NM_001322153.2:c.346G>C, NM_001322153.1:c.346G>C, NM_001322174.2:c.346G>C, NM_001322174.1:c.346G>C, NM_001322149.2:c.538G>C, NM_001322149.1:c.538G>C, NM_001322171.2:c.346G>C, NM_001322171.1:c.346G>C, NM_001322167.2:c.454G>C, NM_001322167.1:c.454G>C, NR_136206.2:n.653G>C, NR_136206.1:n.655G>C, NM_001322166.2:c.454G>C, NM_001322166.1:c.454G>C, NM_001322169.2:c.452G>C, NM_001322169.1:c.452G>C, NR_136212.1:n.737G>C, XM_017028580.2:c.640G>C, XM_017028580.1:c.640G>C, XM_017028579.2:c.640G>C, XM_017028579.1:c.640G>C, XM_017028577.2:c.640G>C, XM_017028577.1:c.640G>C, XM_017028585.2:c.454G>C, XM_017028585.1:c.454G>C, XM_017028586.2:c.454G>C, XM_017028586.1:c.454G>C, XM_047441118.1:c.763G>C, XM_047441121.1:c.577G>C, XM_047441119.1:c.577G>C, XM_047441120.1:c.577G>C, XM_047441122.1:c.538G>C, XM_047441124.1:c.640G>C, XM_047441131.1:c.538G>C, XM_047441132.1:c.415G>C, XM_047441123.1:c.843G>C, XM_047441126.1:c.*64G>C, XM_047441125.1:c.*41G>C, XM_047441128.1:c.*54G>C, XM_047441130.1:c.609G>C, NP_690870.3:p.Gly214Arg, NP_001270035.1:p.Gly214Arg, NP_001270058.1:p.Gly255Arg, NP_001270083.1:p.Trp213Ser, NP_001270045.1:p.Gly214Arg, NP_001270077.1:p.Trp213Ser, NP_001270108.1:p.Gly152Arg, NP_001270128.1:p.Gly139Arg, NP_001270164.1:p.Gly116Arg, NP_001270115.1:p.Gly152Arg, NP_001309070.1:p.Gly255Arg, NP_001309072.1:p.Gly255Arg, NP_001309075.1:p.Gly180Arg, NP_001309077.1:p.Gly180Arg, NP_001309101.1:p.Gly116Arg, NP_001309079.1:p.Gly116Arg, NP_001309089.1:p.Trp179Ser, NP_001309073.1:p.Trp254Ser, NP_001309074.1:p.Gly193Arg, NP_001309071.1:p.Gly214Arg, NP_001309084.1:p.Gly116Arg, NP_001309102.1:p.Gly116Arg, NP_001309092.1:p.Gly152Arg, NP_001309076.1:p.Gly193Arg, NP_001309104.1:p.Gly116Arg, NP_001309082.1:p.Gly116Arg, NP_001309103.1:p.Gly116Arg, NP_001309078.1:p.Gly180Arg, NP_001309100.1:p.Gly116Arg, NP_001309096.1:p.Gly152Arg, NP_001309095.1:p.Gly152Arg, NP_001309098.1:p.Trp151Ser, XP_016884069.1:p.Gly214Arg, XP_016884068.1:p.Gly214Arg, XP_016884066.1:p.Gly214Arg, XP_016884074.1:p.Gly152Arg, XP_016884075.1:p.Gly152Arg, XP_047297074.1:p.Gly255Arg, XP_047297077.1:p.Gly193Arg, XP_047297075.1:p.Gly193Arg, XP_047297076.1:p.Gly193Arg, XP_047297078.1:p.Gly180Arg, XP_047297080.1:p.Gly214Arg, XP_047297087.1:p.Gly180Arg, XP_047297088.1:p.Gly139Arg

                                16.

                                rs1413324371 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  C>- [Show Flanks]
                                  Chromosome:
                                  22:20063350 (GRCh38)
                                  22:20050873 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:20063349:CCC:CC
                                  Gene:
                                  TANGO2 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  CC=0./0 (ALFA)
                                  HGVS:
                                  NC_000022.11:g.20063352del, NC_000022.10:g.20050875del, NG_046857.1:g.51353del, NM_152906.7:c.620del, NM_152906.6:c.620del, NM_152906.5:c.620del, NM_152906.4:c.620del, NM_001283106.3:c.620del, NM_001283106.2:c.620del, NM_001283106.1:c.620del, NM_001283129.3:c.743del, NM_001283129.2:c.743del, NM_001283129.1:c.743del, NM_001283154.3:c.618del, NM_001283154.2:c.618del, NM_001283154.1:c.618del, NM_001283116.3:c.620del, NM_001283116.2:c.620del, NM_001283116.1:c.620del, NM_001283148.3:c.618del, NM_001283148.2:c.618del, NM_001283148.1:c.618del, NR_104275.3:n.655del, NR_104275.2:n.696del, NR_104275.1:n.630del, NM_001283179.3:c.434del, NM_001283179.2:c.434del, NM_001283179.1:c.434del, NM_001283199.3:c.395del, NM_001283199.2:c.395del, NM_001283199.1:c.395del, NM_001283235.3:c.326del, NM_001283235.2:c.326del, NM_001283235.1:c.326del, NM_001283186.3:c.434del, NM_001283186.2:c.434del, NM_001283186.1:c.434del, NR_104274.3:n.415del, NR_104274.2:n.456del, NR_104274.1:n.456del, NM_001283248.3:c.280del, NM_001283248.2:c.280del, NM_001283248.1:c.280del, NM_001322141.2:c.743del, NM_001322141.1:c.743del, NM_001322143.2:c.743del, NM_001322143.1:c.743del, NM_001322146.2:c.518del, NM_001322146.1:c.518del, NM_001322148.2:c.518del, NM_001322148.1:c.518del, NM_001322172.2:c.326del, NM_001322172.1:c.326del, NM_001322150.2:c.326del, NM_001322150.1:c.326del, NM_001322160.2:c.516del, NM_001322160.1:c.516del, NM_001322144.2:c.741del, NM_001322144.1:c.741del, NM_001322145.2:c.557del, NM_001322145.1:c.557del, NM_001322142.2:c.620del, NM_001322142.1:c.620del, NM_001322155.2:c.326del, NM_001322155.1:c.326del, NR_136211.2:n.819del, NR_136211.1:n.821del, NM_001322173.2:c.326del, NM_001322173.1:c.326del, NM_001322163.2:c.434del, NM_001322163.1:c.434del, NM_001322147.2:c.557del, NM_001322147.1:c.557del, NM_001322175.2:c.326del, NM_001322175.1:c.326del, NM_001322153.2:c.326del, NM_001322153.1:c.326del, NM_001322174.2:c.326del, NM_001322174.1:c.326del, NM_001322149.2:c.518del, NM_001322149.1:c.518del, NM_001322171.2:c.326del, NM_001322171.1:c.326del, NM_001322167.2:c.434del, NM_001322167.1:c.434del, NR_136206.2:n.633del, NR_136206.1:n.635del, NM_001322166.2:c.434del, NM_001322166.1:c.434del, NM_001322169.2:c.432del, NM_001322169.1:c.432del, NR_136212.1:n.717del, XM_017028580.2:c.620del, XM_017028580.1:c.620del, XM_017028579.2:c.620del, XM_017028579.1:c.620del, XM_017028577.2:c.620del, XM_017028577.1:c.620del, XM_017028585.2:c.434del, XM_017028585.1:c.434del, XM_017028586.2:c.434del, XM_017028586.1:c.434del, XM_047441118.1:c.743del, XM_047441121.1:c.557del, XM_047441119.1:c.557del, XM_047441120.1:c.557del, XM_047441122.1:c.518del, XM_047441124.1:c.620del, XM_047441131.1:c.518del, XM_047441132.1:c.395del, XM_047441123.1:c.823del, XM_047441126.1:c.*44del, XM_047441125.1:c.*21del, XM_047441128.1:c.*34del, XM_047441130.1:c.589del, NP_690870.3:p.Pro207fs, NP_001270035.1:p.Pro207fs, NP_001270058.1:p.Pro248fs, NP_001270083.1:p.Gly207fs, NP_001270045.1:p.Pro207fs, NP_001270077.1:p.Gly207fs, NP_001270108.1:p.Pro145fs, NP_001270128.1:p.Pro132fs, NP_001270164.1:p.Pro109fs, NP_001270115.1:p.Pro145fs, NP_001270177.1:p.Arg94fs, NP_001309070.1:p.Pro248fs, NP_001309072.1:p.Pro248fs, NP_001309075.1:p.Pro173fs, NP_001309077.1:p.Pro173fs, NP_001309101.1:p.Pro109fs, NP_001309079.1:p.Pro109fs, NP_001309089.1:p.Gly173fs, NP_001309073.1:p.Gly248fs, NP_001309074.1:p.Pro186fs, NP_001309071.1:p.Pro207fs, NP_001309084.1:p.Pro109fs, NP_001309102.1:p.Pro109fs, NP_001309092.1:p.Pro145fs, NP_001309076.1:p.Pro186fs, NP_001309104.1:p.Pro109fs, NP_001309082.1:p.Pro109fs, NP_001309103.1:p.Pro109fs, NP_001309078.1:p.Pro173fs, NP_001309100.1:p.Pro109fs, NP_001309096.1:p.Pro145fs, NP_001309095.1:p.Pro145fs, NP_001309098.1:p.Gly145fs, XP_016884069.1:p.Pro207fs, XP_016884068.1:p.Pro207fs, XP_016884066.1:p.Pro207fs, XP_016884074.1:p.Pro145fs, XP_016884075.1:p.Pro145fs, XP_047297074.1:p.Pro248fs, XP_047297077.1:p.Pro186fs, XP_047297075.1:p.Pro186fs, XP_047297076.1:p.Pro186fs, XP_047297078.1:p.Pro173fs, XP_047297080.1:p.Pro207fs, XP_047297087.1:p.Pro173fs, XP_047297088.1:p.Pro132fs, XP_047297079.1:p.Arg275fs, XP_047297086.1:p.Arg197fs

                                  17.

                                  rs1410891024 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    22:20055953 (GRCh38)
                                    22:20043476 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:20055952:G:A
                                    Gene:
                                    TANGO2 (Varview)
                                    Functional Consequence:
                                    missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.00269/45 (TOMMO)
                                    HGVS:
                                    NC_000022.11:g.20055953G>A, NC_000022.10:g.20043476G>A, NG_046857.1:g.43954G>A, NM_152906.7:c.391G>A, NM_152906.6:c.391G>A, NM_152906.5:c.391G>A, NM_152906.4:c.391G>A, NM_001283106.3:c.391G>A, NM_001283106.2:c.391G>A, NM_001283106.1:c.391G>A, NM_001283129.3:c.514G>A, NM_001283129.2:c.514G>A, NM_001283129.1:c.514G>A, NM_001283154.3:c.391G>A, NM_001283154.2:c.391G>A, NM_001283154.1:c.391G>A, NM_001283116.3:c.391G>A, NM_001283116.2:c.391G>A, NM_001283116.1:c.391G>A, NM_001283148.3:c.391G>A, NM_001283148.2:c.391G>A, NM_001283148.1:c.391G>A, NM_001283215.3:c.514G>A, NM_001283215.2:c.514G>A, NM_001283215.1:c.514G>A, NR_104275.3:n.580G>A, NR_104275.2:n.621G>A, NR_104275.1:n.555G>A, NM_001283235.3:c.97G>A, NM_001283235.2:c.97G>A, NM_001283235.1:c.97G>A, NR_104274.3:n.340G>A, NR_104274.2:n.381G>A, NR_104274.1:n.381G>A, NM_001322141.2:c.514G>A, NM_001322141.1:c.514G>A, NM_001322143.2:c.514G>A, NM_001322143.1:c.514G>A, NM_001322146.2:c.289G>A, NM_001322146.1:c.289G>A, NM_001322148.2:c.289G>A, NM_001322148.1:c.289G>A, NM_001322172.2:c.97G>A, NM_001322172.1:c.97G>A, NM_001322150.2:c.97G>A, NM_001322150.1:c.97G>A, NM_001322160.2:c.289G>A, NM_001322160.1:c.289G>A, NM_001322144.2:c.514G>A, NM_001322144.1:c.514G>A, NM_001322142.2:c.391G>A, NM_001322142.1:c.391G>A, NM_001322155.2:c.97G>A, NM_001322155.1:c.97G>A, NR_136211.2:n.567G>A, NR_136211.1:n.569G>A, NM_001322173.2:c.97G>A, NM_001322173.1:c.97G>A, NM_001322175.2:c.97G>A, NM_001322175.1:c.97G>A, NM_001322153.2:c.97G>A, NM_001322153.1:c.97G>A, NM_001322174.2:c.97G>A, NM_001322174.1:c.97G>A, NM_001322171.2:c.97G>A, NM_001322171.1:c.97G>A, NR_136212.1:n.454G>A, XM_017028580.2:c.391G>A, XM_017028580.1:c.391G>A, XM_017028579.2:c.391G>A, XM_017028579.1:c.391G>A, XM_017028577.2:c.391G>A, XM_017028577.1:c.391G>A, XM_047441118.1:c.514G>A, XM_047441124.1:c.391G>A, XM_047441123.1:c.514G>A, XM_047441129.1:c.514G>A, XM_047441126.1:c.514G>A, XM_047441125.1:c.514G>A, XM_047441128.1:c.514G>A, XM_047441127.1:c.514G>A, XM_047441130.1:c.514G>A, NP_690870.3:p.Gly131Arg, NP_001270035.1:p.Gly131Arg, NP_001270058.1:p.Gly172Arg, NP_001270083.1:p.Gly131Arg, NP_001270045.1:p.Gly131Arg, NP_001270077.1:p.Gly131Arg, NP_001270144.1:p.Gly172Arg, NP_001270164.1:p.Gly33Arg, NP_001309070.1:p.Gly172Arg, NP_001309072.1:p.Gly172Arg, NP_001309075.1:p.Gly97Arg, NP_001309077.1:p.Gly97Arg, NP_001309101.1:p.Gly33Arg, NP_001309079.1:p.Gly33Arg, NP_001309089.1:p.Gly97Arg, NP_001309073.1:p.Gly172Arg, NP_001309071.1:p.Gly131Arg, NP_001309084.1:p.Gly33Arg, NP_001309102.1:p.Gly33Arg, NP_001309104.1:p.Gly33Arg, NP_001309082.1:p.Gly33Arg, NP_001309103.1:p.Gly33Arg, NP_001309100.1:p.Gly33Arg, XP_016884069.1:p.Gly131Arg, XP_016884068.1:p.Gly131Arg, XP_016884066.1:p.Gly131Arg, XP_047297074.1:p.Gly172Arg, XP_047297080.1:p.Gly131Arg, XP_047297079.1:p.Gly172Arg, XP_047297085.1:p.Gly172Arg, XP_047297082.1:p.Gly172Arg, XP_047297081.1:p.Gly172Arg, XP_047297084.1:p.Gly172Arg, XP_047297083.1:p.Gly172Arg, XP_047297086.1:p.Gly172Arg

                                    18.

                                    rs1406689461 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      22:20063392 (GRCh38)
                                      22:20050915 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:20063391:G:A
                                      Gene:
                                      TANGO2 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000224/1 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000223/1 (Estonian)
                                      HGVS:
                                      NC_000022.11:g.20063392G>A, NC_000022.10:g.20050915G>A, NG_046857.1:g.51393G>A, NM_152906.7:c.660G>A, NM_152906.6:c.660G>A, NM_152906.5:c.660G>A, NM_152906.4:c.660G>A, NM_001283106.3:c.660G>A, NM_001283106.2:c.660G>A, NM_001283106.1:c.660G>A, NM_001283129.3:c.783G>A, NM_001283129.2:c.783G>A, NM_001283129.1:c.783G>A, NM_001283154.3:c.658G>A, NM_001283154.2:c.658G>A, NM_001283154.1:c.658G>A, NM_001283116.3:c.660G>A, NM_001283116.2:c.660G>A, NM_001283116.1:c.660G>A, NM_001283148.3:c.658G>A, NM_001283148.2:c.658G>A, NM_001283148.1:c.658G>A, NR_104275.3:n.695G>A, NR_104275.2:n.736G>A, NR_104275.1:n.670G>A, NM_001283179.3:c.474G>A, NM_001283179.2:c.474G>A, NM_001283179.1:c.474G>A, NM_001283199.3:c.435G>A, NM_001283199.2:c.435G>A, NM_001283199.1:c.435G>A, NM_001283235.3:c.366G>A, NM_001283235.2:c.366G>A, NM_001283235.1:c.366G>A, NM_001283186.3:c.474G>A, NM_001283186.2:c.474G>A, NM_001283186.1:c.474G>A, NR_104274.3:n.455G>A, NR_104274.2:n.496G>A, NR_104274.1:n.496G>A, NM_001283248.3:c.320G>A, NM_001283248.2:c.320G>A, NM_001283248.1:c.320G>A, NM_001322141.2:c.783G>A, NM_001322141.1:c.783G>A, NM_001322143.2:c.783G>A, NM_001322143.1:c.783G>A, NM_001322146.2:c.558G>A, NM_001322146.1:c.558G>A, NM_001322148.2:c.558G>A, NM_001322148.1:c.558G>A, NM_001322172.2:c.366G>A, NM_001322172.1:c.366G>A, NM_001322150.2:c.366G>A, NM_001322150.1:c.366G>A, NM_001322160.2:c.556G>A, NM_001322160.1:c.556G>A, NM_001322144.2:c.781G>A, NM_001322144.1:c.781G>A, NM_001322145.2:c.597G>A, NM_001322145.1:c.597G>A, NM_001322142.2:c.660G>A, NM_001322142.1:c.660G>A, NM_001322155.2:c.366G>A, NM_001322155.1:c.366G>A, NR_136211.2:n.859G>A, NR_136211.1:n.861G>A, NM_001322173.2:c.366G>A, NM_001322173.1:c.366G>A, NM_001322163.2:c.474G>A, NM_001322163.1:c.474G>A, NM_001322147.2:c.597G>A, NM_001322147.1:c.597G>A, NM_001322175.2:c.366G>A, NM_001322175.1:c.366G>A, NM_001322153.2:c.366G>A, NM_001322153.1:c.366G>A, NM_001322174.2:c.366G>A, NM_001322174.1:c.366G>A, NM_001322149.2:c.558G>A, NM_001322149.1:c.558G>A, NM_001322171.2:c.366G>A, NM_001322171.1:c.366G>A, NM_001322167.2:c.474G>A, NM_001322167.1:c.474G>A, NR_136206.2:n.673G>A, NR_136206.1:n.675G>A, NM_001322166.2:c.474G>A, NM_001322166.1:c.474G>A, NM_001322169.2:c.472G>A, NM_001322169.1:c.472G>A, NR_136212.1:n.757G>A, XM_017028580.2:c.660G>A, XM_017028580.1:c.660G>A, XM_017028579.2:c.660G>A, XM_017028579.1:c.660G>A, XM_017028577.2:c.660G>A, XM_017028577.1:c.660G>A, XM_017028585.2:c.474G>A, XM_017028585.1:c.474G>A, XM_017028586.2:c.474G>A, XM_017028586.1:c.474G>A, XM_047441118.1:c.783G>A, XM_047441121.1:c.597G>A, XM_047441119.1:c.597G>A, XM_047441120.1:c.597G>A, XM_047441122.1:c.558G>A, XM_047441124.1:c.660G>A, XM_047441131.1:c.558G>A, XM_047441132.1:c.435G>A, XM_047441123.1:c.863G>A, XM_047441126.1:c.*84G>A, XM_047441125.1:c.*61G>A, XM_047441128.1:c.*74G>A, XM_047441130.1:c.629G>A, NP_690870.3:p.Met220Ile, NP_001270035.1:p.Met220Ile, NP_001270058.1:p.Met261Ile, NP_001270083.1:p.Ala220Thr, NP_001270045.1:p.Met220Ile, NP_001270077.1:p.Ala220Thr, NP_001270108.1:p.Met158Ile, NP_001270128.1:p.Met145Ile, NP_001270164.1:p.Met122Ile, NP_001270115.1:p.Met158Ile, NP_001270177.1:p.Cys107Tyr, NP_001309070.1:p.Met261Ile, NP_001309072.1:p.Met261Ile, NP_001309075.1:p.Met186Ile, NP_001309077.1:p.Met186Ile, NP_001309101.1:p.Met122Ile, NP_001309079.1:p.Met122Ile, NP_001309089.1:p.Ala186Thr, NP_001309073.1:p.Ala261Thr, NP_001309074.1:p.Met199Ile, NP_001309071.1:p.Met220Ile, NP_001309084.1:p.Met122Ile, NP_001309102.1:p.Met122Ile, NP_001309092.1:p.Met158Ile, NP_001309076.1:p.Met199Ile, NP_001309104.1:p.Met122Ile, NP_001309082.1:p.Met122Ile, NP_001309103.1:p.Met122Ile, NP_001309078.1:p.Met186Ile, NP_001309100.1:p.Met122Ile, NP_001309096.1:p.Met158Ile, NP_001309095.1:p.Met158Ile, NP_001309098.1:p.Ala158Thr, XP_016884069.1:p.Met220Ile, XP_016884068.1:p.Met220Ile, XP_016884066.1:p.Met220Ile, XP_016884074.1:p.Met158Ile, XP_016884075.1:p.Met158Ile, XP_047297074.1:p.Met261Ile, XP_047297077.1:p.Met199Ile, XP_047297075.1:p.Met199Ile, XP_047297076.1:p.Met199Ile, XP_047297078.1:p.Met186Ile, XP_047297080.1:p.Met220Ile, XP_047297087.1:p.Met186Ile, XP_047297088.1:p.Met145Ile, XP_047297079.1:p.Cys288Tyr, XP_047297086.1:p.Cys210Tyr

                                      19.

                                      rs1403313184 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        22:20061554 (GRCh38)
                                        22:20049077 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:20061553:T:G
                                        Gene:
                                        TANGO2 (Varview)
                                        Functional Consequence:
                                        intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000022.11:g.20061554T>G, NC_000022.10:g.20049077T>G, NG_046857.1:g.49555T>G, NM_152906.7:c.476T>G, NM_152906.6:c.476T>G, NM_152906.5:c.476T>G, NM_152906.4:c.476T>G, NM_001283106.3:c.476T>G, NM_001283106.2:c.476T>G, NM_001283106.1:c.476T>G, NM_001283129.3:c.599T>G, NM_001283129.2:c.599T>G, NM_001283129.1:c.599T>G, NM_001283154.3:c.476T>G, NM_001283154.2:c.476T>G, NM_001283154.1:c.476T>G, NM_001283116.3:c.476T>G, NM_001283116.2:c.476T>G, NM_001283116.1:c.476T>G, NM_001283148.3:c.476T>G, NM_001283148.2:c.476T>G, NM_001283148.1:c.476T>G, NM_001283179.3:c.290T>G, NM_001283179.2:c.290T>G, NM_001283179.1:c.290T>G, NM_001283235.3:c.182T>G, NM_001283235.2:c.182T>G, NM_001283235.1:c.182T>G, NM_001283186.3:c.290T>G, NM_001283186.2:c.290T>G, NM_001283186.1:c.290T>G, NM_001322141.2:c.599T>G, NM_001322141.1:c.599T>G, NM_001322143.2:c.599T>G, NM_001322143.1:c.599T>G, NM_001322146.2:c.374T>G, NM_001322146.1:c.374T>G, NM_001322148.2:c.374T>G, NM_001322148.1:c.374T>G, NM_001322172.2:c.182T>G, NM_001322172.1:c.182T>G, NM_001322150.2:c.182T>G, NM_001322150.1:c.182T>G, NM_001322160.2:c.374T>G, NM_001322160.1:c.374T>G, NM_001322144.2:c.599T>G, NM_001322144.1:c.599T>G, NM_001322145.2:c.413T>G, NM_001322145.1:c.413T>G, NM_001322142.2:c.476T>G, NM_001322142.1:c.476T>G, NM_001322155.2:c.182T>G, NM_001322155.1:c.182T>G, NR_136211.2:n.652T>G, NR_136211.1:n.654T>G, NM_001322173.2:c.182T>G, NM_001322173.1:c.182T>G, NM_001322163.2:c.290T>G, NM_001322163.1:c.290T>G, NM_001322147.2:c.413T>G, NM_001322147.1:c.413T>G, NM_001322175.2:c.182T>G, NM_001322175.1:c.182T>G, NM_001322153.2:c.182T>G, NM_001322153.1:c.182T>G, NM_001322174.2:c.182T>G, NM_001322174.1:c.182T>G, NM_001322171.2:c.182T>G, NM_001322171.1:c.182T>G, NM_001322167.2:c.290T>G, NM_001322167.1:c.290T>G, NR_136206.2:n.466T>G, NR_136206.1:n.468T>G, NM_001322166.2:c.290T>G, NM_001322166.1:c.290T>G, NM_001322169.2:c.290T>G, NM_001322169.1:c.290T>G, NR_136212.1:n.573T>G, XM_017028580.2:c.476T>G, XM_017028580.1:c.476T>G, XM_017028579.2:c.476T>G, XM_017028579.1:c.476T>G, XM_017028577.2:c.476T>G, XM_017028577.1:c.476T>G, XM_017028585.2:c.290T>G, XM_017028585.1:c.290T>G, XM_017028586.2:c.290T>G, XM_017028586.1:c.290T>G, XM_047441118.1:c.599T>G, XM_047441121.1:c.413T>G, XM_047441119.1:c.413T>G, XM_047441120.1:c.413T>G, XM_047441124.1:c.476T>G, XM_047441123.1:c.599T>G, XM_047441126.1:c.633T>G, XM_047441125.1:c.633T>G, XM_047441128.1:c.599T>G, XM_047441127.1:c.633T>G, NP_690870.3:p.Leu159Arg, NP_001270035.1:p.Leu159Arg, NP_001270058.1:p.Leu200Arg, NP_001270083.1:p.Leu159Arg, NP_001270045.1:p.Leu159Arg, NP_001270077.1:p.Leu159Arg, NP_001270108.1:p.Leu97Arg, NP_001270164.1:p.Leu61Arg, NP_001270115.1:p.Leu97Arg, NP_001309070.1:p.Leu200Arg, NP_001309072.1:p.Leu200Arg, NP_001309075.1:p.Leu125Arg, NP_001309077.1:p.Leu125Arg, NP_001309101.1:p.Leu61Arg, NP_001309079.1:p.Leu61Arg, NP_001309089.1:p.Leu125Arg, NP_001309073.1:p.Leu200Arg, NP_001309074.1:p.Leu138Arg, NP_001309071.1:p.Leu159Arg, NP_001309084.1:p.Leu61Arg, NP_001309102.1:p.Leu61Arg, NP_001309092.1:p.Leu97Arg, NP_001309076.1:p.Leu138Arg, NP_001309104.1:p.Leu61Arg, NP_001309082.1:p.Leu61Arg, NP_001309103.1:p.Leu61Arg, NP_001309100.1:p.Leu61Arg, NP_001309096.1:p.Leu97Arg, NP_001309095.1:p.Leu97Arg, NP_001309098.1:p.Leu97Arg, XP_016884069.1:p.Leu159Arg, XP_016884068.1:p.Leu159Arg, XP_016884066.1:p.Leu159Arg, XP_016884074.1:p.Leu97Arg, XP_016884075.1:p.Leu97Arg, XP_047297074.1:p.Leu200Arg, XP_047297077.1:p.Leu138Arg, XP_047297075.1:p.Leu138Arg, XP_047297076.1:p.Leu138Arg, XP_047297080.1:p.Leu159Arg, XP_047297079.1:p.Leu200Arg, XP_047297084.1:p.Leu200Arg

                                        20.

                                        rs1401366067 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          22:20063382 (GRCh38)
                                          22:20050905 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:20063381:T:C
                                          Gene:
                                          TANGO2 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_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_000022.11:g.20063382T>C, NC_000022.10:g.20050905T>C, NG_046857.1:g.51383T>C, NM_152906.7:c.650T>C, NM_152906.6:c.650T>C, NM_152906.5:c.650T>C, NM_152906.4:c.650T>C, NM_001283106.3:c.650T>C, NM_001283106.2:c.650T>C, NM_001283106.1:c.650T>C, NM_001283129.3:c.773T>C, NM_001283129.2:c.773T>C, NM_001283129.1:c.773T>C, NM_001283154.3:c.648T>C, NM_001283154.2:c.648T>C, NM_001283154.1:c.648T>C, NM_001283116.3:c.650T>C, NM_001283116.2:c.650T>C, NM_001283116.1:c.650T>C, NM_001283148.3:c.648T>C, NM_001283148.2:c.648T>C, NM_001283148.1:c.648T>C, NR_104275.3:n.685T>C, NR_104275.2:n.726T>C, NR_104275.1:n.660T>C, NM_001283179.3:c.464T>C, NM_001283179.2:c.464T>C, NM_001283179.1:c.464T>C, NM_001283199.3:c.425T>C, NM_001283199.2:c.425T>C, NM_001283199.1:c.425T>C, NM_001283235.3:c.356T>C, NM_001283235.2:c.356T>C, NM_001283235.1:c.356T>C, NM_001283186.3:c.464T>C, NM_001283186.2:c.464T>C, NM_001283186.1:c.464T>C, NR_104274.3:n.445T>C, NR_104274.2:n.486T>C, NR_104274.1:n.486T>C, NM_001283248.3:c.310T>C, NM_001283248.2:c.310T>C, NM_001283248.1:c.310T>C, NM_001322141.2:c.773T>C, NM_001322141.1:c.773T>C, NM_001322143.2:c.773T>C, NM_001322143.1:c.773T>C, NM_001322146.2:c.548T>C, NM_001322146.1:c.548T>C, NM_001322148.2:c.548T>C, NM_001322148.1:c.548T>C, NM_001322172.2:c.356T>C, NM_001322172.1:c.356T>C, NM_001322150.2:c.356T>C, NM_001322150.1:c.356T>C, NM_001322160.2:c.546T>C, NM_001322160.1:c.546T>C, NM_001322144.2:c.771T>C, NM_001322144.1:c.771T>C, NM_001322145.2:c.587T>C, NM_001322145.1:c.587T>C, NM_001322142.2:c.650T>C, NM_001322142.1:c.650T>C, NM_001322155.2:c.356T>C, NM_001322155.1:c.356T>C, NR_136211.2:n.849T>C, NR_136211.1:n.851T>C, NM_001322173.2:c.356T>C, NM_001322173.1:c.356T>C, NM_001322163.2:c.464T>C, NM_001322163.1:c.464T>C, NM_001322147.2:c.587T>C, NM_001322147.1:c.587T>C, NM_001322175.2:c.356T>C, NM_001322175.1:c.356T>C, NM_001322153.2:c.356T>C, NM_001322153.1:c.356T>C, NM_001322174.2:c.356T>C, NM_001322174.1:c.356T>C, NM_001322149.2:c.548T>C, NM_001322149.1:c.548T>C, NM_001322171.2:c.356T>C, NM_001322171.1:c.356T>C, NM_001322167.2:c.464T>C, NM_001322167.1:c.464T>C, NR_136206.2:n.663T>C, NR_136206.1:n.665T>C, NM_001322166.2:c.464T>C, NM_001322166.1:c.464T>C, NM_001322169.2:c.462T>C, NM_001322169.1:c.462T>C, NR_136212.1:n.747T>C, XM_017028580.2:c.650T>C, XM_017028580.1:c.650T>C, XM_017028579.2:c.650T>C, XM_017028579.1:c.650T>C, XM_017028577.2:c.650T>C, XM_017028577.1:c.650T>C, XM_017028585.2:c.464T>C, XM_017028585.1:c.464T>C, XM_017028586.2:c.464T>C, XM_017028586.1:c.464T>C, XM_047441118.1:c.773T>C, XM_047441121.1:c.587T>C, XM_047441119.1:c.587T>C, XM_047441120.1:c.587T>C, XM_047441122.1:c.548T>C, XM_047441124.1:c.650T>C, XM_047441131.1:c.548T>C, XM_047441132.1:c.425T>C, XM_047441123.1:c.853T>C, XM_047441126.1:c.*74T>C, XM_047441125.1:c.*51T>C, XM_047441128.1:c.*64T>C, XM_047441130.1:c.619T>C, NP_690870.3:p.Val217Ala, NP_001270035.1:p.Val217Ala, NP_001270058.1:p.Val258Ala, NP_001270045.1:p.Val217Ala, NP_001270108.1:p.Val155Ala, NP_001270128.1:p.Val142Ala, NP_001270164.1:p.Val119Ala, NP_001270115.1:p.Val155Ala, NP_001270177.1:p.Cys104Arg, NP_001309070.1:p.Val258Ala, NP_001309072.1:p.Val258Ala, NP_001309075.1:p.Val183Ala, NP_001309077.1:p.Val183Ala, NP_001309101.1:p.Val119Ala, NP_001309079.1:p.Val119Ala, NP_001309074.1:p.Val196Ala, NP_001309071.1:p.Val217Ala, NP_001309084.1:p.Val119Ala, NP_001309102.1:p.Val119Ala, NP_001309092.1:p.Val155Ala, NP_001309076.1:p.Val196Ala, NP_001309104.1:p.Val119Ala, NP_001309082.1:p.Val119Ala, NP_001309103.1:p.Val119Ala, NP_001309078.1:p.Val183Ala, NP_001309100.1:p.Val119Ala, NP_001309096.1:p.Val155Ala, NP_001309095.1:p.Val155Ala, XP_016884069.1:p.Val217Ala, XP_016884068.1:p.Val217Ala, XP_016884066.1:p.Val217Ala, XP_016884074.1:p.Val155Ala, XP_016884075.1:p.Val155Ala, XP_047297074.1:p.Val258Ala, XP_047297077.1:p.Val196Ala, XP_047297075.1:p.Val196Ala, XP_047297076.1:p.Val196Ala, XP_047297078.1:p.Val183Ala, XP_047297080.1:p.Val217Ala, XP_047297087.1:p.Val183Ala, XP_047297088.1:p.Val142Ala, XP_047297079.1:p.Cys285Arg, XP_047297086.1:p.Cys207Arg

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...