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Items: 1 to 20 of 140

1.

rs1484225726 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    7:43639654 (GRCh38)
    7:43679253 (GRCh37)
    Canonical SPDI:
    NC_000007.14:43639653:C:G,NC_000007.14:43639653:C:T
    Gene:
    COA1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    G=0.00055/1 (Korea1K)
    HGVS:
    NC_000007.14:g.43639654C>G, NC_000007.14:g.43639654C>T, NC_000007.13:g.43679253C>G, NC_000007.13:g.43679253C>T, NM_018224.4:c.369G>C, NM_018224.4:c.369G>A, NM_018224.3:c.369G>C, NM_018224.3:c.369G>A, NR_146941.2:n.617G>C, NR_146941.2:n.617G>A, NR_146941.1:n.635G>C, NR_146941.1:n.635G>A, NR_135583.2:n.502G>C, NR_135583.2:n.502G>A, NR_135583.1:n.520G>C, NR_135583.1:n.520G>A, NR_146940.2:n.353G>C, NR_146940.2:n.353G>A, NR_146940.1:n.371G>C, NR_146940.1:n.371G>A, NR_047701.2:n.567G>C, NR_047701.2:n.567G>A, NR_135580.2:n.603G>C, NR_135580.2:n.603G>A, NR_135580.1:n.621G>C, NR_135580.1:n.621G>A, NR_135581.2:n.603G>C, NR_135581.2:n.603G>A, NR_135581.1:n.621G>C, NR_135581.1:n.621G>A, NR_146944.2:n.567G>C, NR_146944.2:n.567G>A, NR_146944.1:n.585G>C, NR_146944.1:n.585G>A, NR_135582.2:n.502G>C, NR_135582.2:n.502G>A, NR_135582.1:n.520G>C, NR_135582.1:n.520G>A, NR_146943.2:n.495G>C, NR_146943.2:n.495G>A, NR_146943.1:n.513G>C, NR_146943.1:n.513G>A, NR_146942.2:n.567G>C, NR_146942.2:n.567G>A, NR_146942.1:n.585G>C, NR_146942.1:n.585G>A, NR_146945.2:n.502G>C, NR_146945.2:n.502G>A, NR_146945.1:n.520G>C, NR_146945.1:n.520G>A, NM_001350927.2:c.369G>C, NM_001350927.2:c.369G>A, NM_001350927.1:c.369G>C, NM_001350927.1:c.369G>A, NM_001321197.2:c.369G>C, NM_001321197.2:c.369G>A, NM_001321197.1:c.369G>C, NM_001321197.1:c.369G>A, NM_001350924.2:c.369G>C, NM_001350924.2:c.369G>A, NM_001350924.1:c.369G>C, NM_001350924.1:c.369G>A, NM_001350926.2:c.369G>C, NM_001350926.2:c.369G>A, NM_001350926.1:c.369G>C, NM_001350926.1:c.369G>A, NM_001321200.2:c.369G>C, NM_001321200.2:c.369G>A, NM_001321200.1:c.369G>C, NM_001321200.1:c.369G>A, NM_001321198.2:c.369G>C, NM_001321198.2:c.369G>A, NM_001321198.1:c.369G>C, NM_001321198.1:c.369G>A, NM_001321199.2:c.369G>C, NM_001321199.2:c.369G>A, NM_001321199.1:c.369G>C, NM_001321199.1:c.369G>A, NM_001350925.2:c.369G>C, NM_001350925.2:c.369G>A, NM_001350925.1:c.369G>C, NM_001350925.1:c.369G>A, NM_001350928.2:c.351G>C, NM_001350928.2:c.351G>A, NM_001350928.1:c.351G>C, NM_001350928.1:c.351G>A, NM_001321201.2:c.333G>C, NM_001321201.2:c.333G>A, NM_001321201.1:c.333G>C, NM_001321201.1:c.333G>A, XR_007060089.1:n.1776G>C, XR_007060089.1:n.1776G>A, XR_007060092.1:n.843G>C, XR_007060092.1:n.843G>A, XR_007060090.1:n.724G>C, XR_007060090.1:n.724G>A, XR_007060088.1:n.722G>C, XR_007060088.1:n.722G>A, XR_007060099.1:n.692G>C, XR_007060099.1:n.692G>A, XR_007060095.1:n.623G>C, XR_007060095.1:n.623G>A, XR_007060087.1:n.603G>C, XR_007060087.1:n.603G>A, XR_007060091.1:n.573G>C, XR_007060091.1:n.573G>A, XR_007060094.1:n.532G>C, XR_007060094.1:n.532G>A, XR_007060101.1:n.526G>C, XR_007060101.1:n.526G>A, XR_007060076.1:n.502G>C, XR_007060076.1:n.502G>A, XR_007060096.1:n.722G>C, XR_007060096.1:n.722G>A, XR_007060097.1:n.603G>C, XR_007060097.1:n.603G>A, XR_007060106.1:n.1776G>C, XR_007060106.1:n.1776G>A, XR_007060103.1:n.552G>C, XR_007060103.1:n.552G>A, XR_007060077.1:n.502G>C, XR_007060077.1:n.502G>A, XR_007060104.1:n.472G>C, XR_007060104.1:n.472G>A, XR_007060108.1:n.897G>C, XR_007060108.1:n.897G>A, XR_007060100.1:n.722G>C, XR_007060100.1:n.722G>A, XR_007060113.1:n.748G>C, XR_007060113.1:n.748G>A, XR_007060105.1:n.603G>C, XR_007060105.1:n.603G>A, XR_007060107.1:n.724G>C, XR_007060107.1:n.724G>A, XR_007060098.1:n.722G>C, XR_007060098.1:n.722G>A, XR_007060115.1:n.707G>C, XR_007060115.1:n.707G>A, XR_007060081.1:n.502G>C, XR_007060081.1:n.502G>A, XR_007060109.1:n.623G>C, XR_007060109.1:n.623G>A, XR_007060093.1:n.603G>C, XR_007060093.1:n.603G>A, XR_007060110.1:n.573G>C, XR_007060110.1:n.573G>A, XR_007060079.1:n.502G>C, XR_007060079.1:n.502G>A, XR_007060086.1:n.502G>C, XR_007060086.1:n.502G>A, NR_163916.1:n.567G>C, NR_163916.1:n.567G>A, NR_163917.1:n.567G>C, NR_163917.1:n.567G>A, NR_163918.1:n.552G>C, NR_163918.1:n.552G>A, NR_163914.1:n.567G>C, NR_163914.1:n.567G>A, XR_007060080.1:n.502G>C, XR_007060080.1:n.502G>A, XR_007060078.1:n.502G>C, XR_007060078.1:n.502G>A, NR_047701.1:n.585G>C, NR_047701.1:n.585G>A, XR_007060083.1:n.502G>C, XR_007060083.1:n.502G>A, XR_007060082.1:n.502G>C, XR_007060082.1:n.502G>A, XR_007060085.1:n.502G>C, XR_007060085.1:n.502G>A, XM_047420604.1:c.369G>C, XM_047420604.1:c.369G>A, XR_007060111.1:n.843G>C, XR_007060111.1:n.843G>A, XR_007060112.1:n.724G>C, XR_007060112.1:n.724G>A, XR_007060102.1:n.722G>C, XR_007060102.1:n.722G>A, XR_007060114.1:n.573G>C, XR_007060114.1:n.573G>A, XR_007060084.1:n.502G>C, XR_007060084.1:n.502G>A, NM_001371307.1:c.369G>C, NM_001371307.1:c.369G>A, XM_047420605.1:c.369G>C, XM_047420605.1:c.369G>A, NM_001371312.1:c.369G>C, NM_001371312.1:c.369G>A, NM_001371313.1:c.369G>C, NM_001371313.1:c.369G>A, XM_047420603.1:c.369G>C, XM_047420603.1:c.369G>A, NM_001371311.1:c.369G>C, NM_001371311.1:c.369G>A, NM_001371315.1:c.369G>C, NM_001371315.1:c.369G>A, NM_001371308.1:c.369G>C, NM_001371308.1:c.369G>A, NM_001371316.1:c.369G>C, NM_001371316.1:c.369G>A, NM_001371310.1:c.369G>C, NM_001371310.1:c.369G>A, NM_001371314.1:c.369G>C, NM_001371314.1:c.369G>A, NR_163919.1:n.608G>C, NR_163919.1:n.608G>A, NM_001371317.1:c.351G>C, NM_001371317.1:c.351G>A, NM_001371318.1:c.357G>C, NM_001371318.1:c.357G>A, NM_001371309.1:c.369G>C, NM_001371309.1:c.369G>A, NR_163915.1:n.507G>C, NR_163915.1:n.507G>A, NP_060694.2:p.Glu123Asp, NP_001337856.1:p.Glu123Asp, NP_001308126.1:p.Glu123Asp, NP_001337853.1:p.Glu123Asp, NP_001337855.1:p.Glu123Asp, NP_001308129.1:p.Glu123Asp, NP_001308127.1:p.Glu123Asp, NP_001308128.1:p.Glu123Asp, NP_001337854.1:p.Glu123Asp, NP_001337857.1:p.Glu117Asp, NP_001308130.1:p.Glu111Asp, XP_047276560.1:p.Glu123Asp, NP_001358236.1:p.Glu123Asp, XP_047276561.1:p.Glu123Asp, NP_001358241.1:p.Glu123Asp, NP_001358242.1:p.Glu123Asp, XP_047276559.1:p.Glu123Asp, NP_001358240.1:p.Glu123Asp, NP_001358244.1:p.Glu123Asp, NP_001358237.1:p.Glu123Asp, NP_001358245.1:p.Glu123Asp, NP_001358239.1:p.Glu123Asp, NP_001358243.1:p.Glu123Asp, NP_001358246.1:p.Glu117Asp, NP_001358247.1:p.Glu119Asp, NP_001358238.1:p.Glu123Asp

    2.

    rs1477083712 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      7:43645327 (GRCh38)
      7:43684926 (GRCh37)
      Canonical SPDI:
      NC_000007.14:43645326:G:A
      Gene:
      COA1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000007.14:g.43645327G>A, NC_000007.13:g.43684926G>A, NM_018224.4:c.188C>T, NM_018224.3:c.188C>T, NR_146941.2:n.436C>T, NR_146941.1:n.454C>T, NR_135583.2:n.321C>T, NR_135583.1:n.339C>T, NR_047701.2:n.386C>T, NR_135580.2:n.422C>T, NR_135580.1:n.440C>T, NR_135581.2:n.422C>T, NR_135581.1:n.440C>T, NR_146944.2:n.386C>T, NR_146944.1:n.404C>T, NR_135582.2:n.321C>T, NR_135582.1:n.339C>T, NR_146943.2:n.314C>T, NR_146943.1:n.332C>T, NR_146942.2:n.386C>T, NR_146942.1:n.404C>T, NR_146945.2:n.321C>T, NR_146945.1:n.339C>T, NM_001350927.2:c.188C>T, NM_001350927.1:c.188C>T, NM_001321197.2:c.188C>T, NM_001321197.1:c.188C>T, NM_001350924.2:c.188C>T, NM_001350924.1:c.188C>T, NM_001350926.2:c.188C>T, NM_001350926.1:c.188C>T, NM_001321200.2:c.188C>T, NM_001321200.1:c.188C>T, NM_001321198.2:c.188C>T, NM_001321198.1:c.188C>T, NM_001321199.2:c.188C>T, NM_001321199.1:c.188C>T, NM_001350925.2:c.188C>T, NM_001350925.1:c.188C>T, NM_001350928.2:c.170C>T, NM_001350928.1:c.170C>T, NM_001321201.2:c.152C>T, NM_001321201.1:c.152C>T, XR_007060089.1:n.1595C>T, XR_007060092.1:n.662C>T, XR_007060090.1:n.543C>T, XR_007060088.1:n.541C>T, XR_007060099.1:n.511C>T, XR_007060095.1:n.442C>T, XR_007060087.1:n.422C>T, XR_007060091.1:n.392C>T, XR_007060094.1:n.351C>T, XR_007060101.1:n.345C>T, XR_007060076.1:n.321C>T, XR_007060096.1:n.541C>T, XR_007060097.1:n.422C>T, XR_007060106.1:n.1595C>T, XR_007060103.1:n.371C>T, XR_007060077.1:n.321C>T, XR_007060104.1:n.291C>T, XR_007060108.1:n.716C>T, XR_007060100.1:n.541C>T, XR_007060113.1:n.567C>T, XR_007060105.1:n.422C>T, XR_007060107.1:n.543C>T, XR_007060098.1:n.541C>T, XR_007060115.1:n.526C>T, XR_007060081.1:n.321C>T, XR_007060109.1:n.442C>T, XR_007060093.1:n.422C>T, XR_007060110.1:n.392C>T, XR_007060079.1:n.321C>T, XR_007060086.1:n.321C>T, NR_163916.1:n.386C>T, NR_163917.1:n.386C>T, NR_163918.1:n.371C>T, NR_163914.1:n.386C>T, XR_007060080.1:n.321C>T, XR_007060078.1:n.321C>T, NR_047701.1:n.404C>T, XR_007060083.1:n.321C>T, XR_007060082.1:n.321C>T, XR_007060085.1:n.321C>T, XM_047420604.1:c.188C>T, XR_007060111.1:n.662C>T, XR_007060112.1:n.543C>T, XR_007060102.1:n.541C>T, XR_007060114.1:n.392C>T, XR_007060084.1:n.321C>T, NM_001371307.1:c.188C>T, XM_047420605.1:c.188C>T, NM_001371312.1:c.188C>T, NM_001371313.1:c.188C>T, XM_047420603.1:c.188C>T, NM_001371311.1:c.188C>T, NM_001371315.1:c.188C>T, NM_001371308.1:c.188C>T, NM_001371316.1:c.188C>T, NM_001371310.1:c.188C>T, NM_001371314.1:c.188C>T, NR_163919.1:n.422C>T, NM_001371317.1:c.170C>T, NM_001371318.1:c.176C>T, NM_001371309.1:c.188C>T, NR_163915.1:n.321C>T, NP_060694.2:p.Ala63Val, NP_001337856.1:p.Ala63Val, NP_001308126.1:p.Ala63Val, NP_001337853.1:p.Ala63Val, NP_001337855.1:p.Ala63Val, NP_001308129.1:p.Ala63Val, NP_001308127.1:p.Ala63Val, NP_001308128.1:p.Ala63Val, NP_001337854.1:p.Ala63Val, NP_001337857.1:p.Ala57Val, NP_001308130.1:p.Ala51Val, XP_047276560.1:p.Ala63Val, NP_001358236.1:p.Ala63Val, XP_047276561.1:p.Ala63Val, NP_001358241.1:p.Ala63Val, NP_001358242.1:p.Ala63Val, XP_047276559.1:p.Ala63Val, NP_001358240.1:p.Ala63Val, NP_001358244.1:p.Ala63Val, NP_001358237.1:p.Ala63Val, NP_001358245.1:p.Ala63Val, NP_001358239.1:p.Ala63Val, NP_001358243.1:p.Ala63Val, NP_001358246.1:p.Ala57Val, NP_001358247.1:p.Ala59Val, NP_001358238.1:p.Ala63Val

      3.

      rs1471498299 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        7:43645299 (GRCh38)
        7:43684898 (GRCh37)
        Canonical SPDI:
        NC_000007.14:43645298:A:G
        Gene:
        COA1 (Varview)
        Functional Consequence:
        synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
        HGVS:
        NC_000007.14:g.43645299A>G, NC_000007.13:g.43684898A>G, NM_018224.4:c.216T>C, NM_018224.3:c.216T>C, NR_146941.2:n.464T>C, NR_146941.1:n.482T>C, NR_135583.2:n.349T>C, NR_135583.1:n.367T>C, NR_047701.2:n.414T>C, NR_135580.2:n.450T>C, NR_135580.1:n.468T>C, NR_135581.2:n.450T>C, NR_135581.1:n.468T>C, NR_146944.2:n.414T>C, NR_146944.1:n.432T>C, NR_135582.2:n.349T>C, NR_135582.1:n.367T>C, NR_146943.2:n.342T>C, NR_146943.1:n.360T>C, NR_146942.2:n.414T>C, NR_146942.1:n.432T>C, NR_146945.2:n.349T>C, NR_146945.1:n.367T>C, NM_001350927.2:c.216T>C, NM_001350927.1:c.216T>C, NM_001321197.2:c.216T>C, NM_001321197.1:c.216T>C, NM_001350924.2:c.216T>C, NM_001350924.1:c.216T>C, NM_001350926.2:c.216T>C, NM_001350926.1:c.216T>C, NM_001321200.2:c.216T>C, NM_001321200.1:c.216T>C, NM_001321198.2:c.216T>C, NM_001321198.1:c.216T>C, NM_001321199.2:c.216T>C, NM_001321199.1:c.216T>C, NM_001350925.2:c.216T>C, NM_001350925.1:c.216T>C, NM_001350928.2:c.198T>C, NM_001350928.1:c.198T>C, NM_001321201.2:c.180T>C, NM_001321201.1:c.180T>C, XR_007060089.1:n.1623T>C, XR_007060092.1:n.690T>C, XR_007060090.1:n.571T>C, XR_007060088.1:n.569T>C, XR_007060099.1:n.539T>C, XR_007060095.1:n.470T>C, XR_007060087.1:n.450T>C, XR_007060091.1:n.420T>C, XR_007060094.1:n.379T>C, XR_007060101.1:n.373T>C, XR_007060076.1:n.349T>C, XR_007060096.1:n.569T>C, XR_007060097.1:n.450T>C, XR_007060106.1:n.1623T>C, XR_007060103.1:n.399T>C, XR_007060077.1:n.349T>C, XR_007060104.1:n.319T>C, XR_007060108.1:n.744T>C, XR_007060100.1:n.569T>C, XR_007060113.1:n.595T>C, XR_007060105.1:n.450T>C, XR_007060107.1:n.571T>C, XR_007060098.1:n.569T>C, XR_007060115.1:n.554T>C, XR_007060081.1:n.349T>C, XR_007060109.1:n.470T>C, XR_007060093.1:n.450T>C, XR_007060110.1:n.420T>C, XR_007060079.1:n.349T>C, XR_007060086.1:n.349T>C, NR_163916.1:n.414T>C, NR_163917.1:n.414T>C, NR_163918.1:n.399T>C, NR_163914.1:n.414T>C, XR_007060080.1:n.349T>C, XR_007060078.1:n.349T>C, NR_047701.1:n.432T>C, XR_007060083.1:n.349T>C, XR_007060082.1:n.349T>C, XR_007060085.1:n.349T>C, XM_047420604.1:c.216T>C, XR_007060111.1:n.690T>C, XR_007060112.1:n.571T>C, XR_007060102.1:n.569T>C, XR_007060114.1:n.420T>C, XR_007060084.1:n.349T>C, NM_001371307.1:c.216T>C, XM_047420605.1:c.216T>C, NM_001371312.1:c.216T>C, NM_001371313.1:c.216T>C, XM_047420603.1:c.216T>C, NM_001371311.1:c.216T>C, NM_001371315.1:c.216T>C, NM_001371308.1:c.216T>C, NM_001371316.1:c.216T>C, NM_001371310.1:c.216T>C, NM_001371314.1:c.216T>C, NR_163919.1:n.450T>C, NM_001371317.1:c.198T>C, NM_001371318.1:c.204T>C, NM_001371309.1:c.216T>C, NR_163915.1:n.349T>C

        4.

        rs1467957232 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          7:43645292 (GRCh38)
          7:43684891 (GRCh37)
          Canonical SPDI:
          NC_000007.14:43645291:G:A,NC_000007.14:43645291:G:C
          Gene:
          COA1 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          C=0.000004/1 (TOPMED)
          HGVS:
          NC_000007.14:g.43645292G>A, NC_000007.14:g.43645292G>C, NC_000007.13:g.43684891G>A, NC_000007.13:g.43684891G>C, NM_018224.4:c.223C>T, NM_018224.4:c.223C>G, NM_018224.3:c.223C>T, NM_018224.3:c.223C>G, NR_146941.2:n.471C>T, NR_146941.2:n.471C>G, NR_146941.1:n.489C>T, NR_146941.1:n.489C>G, NR_135583.2:n.356C>T, NR_135583.2:n.356C>G, NR_135583.1:n.374C>T, NR_135583.1:n.374C>G, NR_047701.2:n.421C>T, NR_047701.2:n.421C>G, NR_135580.2:n.457C>T, NR_135580.2:n.457C>G, NR_135580.1:n.475C>T, NR_135580.1:n.475C>G, NR_135581.2:n.457C>T, NR_135581.2:n.457C>G, NR_135581.1:n.475C>T, NR_135581.1:n.475C>G, NR_146944.2:n.421C>T, NR_146944.2:n.421C>G, NR_146944.1:n.439C>T, NR_146944.1:n.439C>G, NR_135582.2:n.356C>T, NR_135582.2:n.356C>G, NR_135582.1:n.374C>T, NR_135582.1:n.374C>G, NR_146943.2:n.349C>T, NR_146943.2:n.349C>G, NR_146943.1:n.367C>T, NR_146943.1:n.367C>G, NR_146942.2:n.421C>T, NR_146942.2:n.421C>G, NR_146942.1:n.439C>T, NR_146942.1:n.439C>G, NR_146945.2:n.356C>T, NR_146945.2:n.356C>G, NR_146945.1:n.374C>T, NR_146945.1:n.374C>G, NM_001350927.2:c.223C>T, NM_001350927.2:c.223C>G, NM_001350927.1:c.223C>T, NM_001350927.1:c.223C>G, NM_001321197.2:c.223C>T, NM_001321197.2:c.223C>G, NM_001321197.1:c.223C>T, NM_001321197.1:c.223C>G, NM_001350924.2:c.223C>T, NM_001350924.2:c.223C>G, NM_001350924.1:c.223C>T, NM_001350924.1:c.223C>G, NM_001350926.2:c.223C>T, NM_001350926.2:c.223C>G, NM_001350926.1:c.223C>T, NM_001350926.1:c.223C>G, NM_001321200.2:c.223C>T, NM_001321200.2:c.223C>G, NM_001321200.1:c.223C>T, NM_001321200.1:c.223C>G, NM_001321198.2:c.223C>T, NM_001321198.2:c.223C>G, NM_001321198.1:c.223C>T, NM_001321198.1:c.223C>G, NM_001321199.2:c.223C>T, NM_001321199.2:c.223C>G, NM_001321199.1:c.223C>T, NM_001321199.1:c.223C>G, NM_001350925.2:c.223C>T, NM_001350925.2:c.223C>G, NM_001350925.1:c.223C>T, NM_001350925.1:c.223C>G, NM_001350928.2:c.205C>T, NM_001350928.2:c.205C>G, NM_001350928.1:c.205C>T, NM_001350928.1:c.205C>G, NM_001321201.2:c.187C>T, NM_001321201.2:c.187C>G, NM_001321201.1:c.187C>T, NM_001321201.1:c.187C>G, XR_007060089.1:n.1630C>T, XR_007060089.1:n.1630C>G, XR_007060092.1:n.697C>T, XR_007060092.1:n.697C>G, XR_007060090.1:n.578C>T, XR_007060090.1:n.578C>G, XR_007060088.1:n.576C>T, XR_007060088.1:n.576C>G, XR_007060099.1:n.546C>T, XR_007060099.1:n.546C>G, XR_007060095.1:n.477C>T, XR_007060095.1:n.477C>G, XR_007060087.1:n.457C>T, XR_007060087.1:n.457C>G, XR_007060091.1:n.427C>T, XR_007060091.1:n.427C>G, XR_007060094.1:n.386C>T, XR_007060094.1:n.386C>G, XR_007060101.1:n.380C>T, XR_007060101.1:n.380C>G, XR_007060076.1:n.356C>T, XR_007060076.1:n.356C>G, XR_007060096.1:n.576C>T, XR_007060096.1:n.576C>G, XR_007060097.1:n.457C>T, XR_007060097.1:n.457C>G, XR_007060106.1:n.1630C>T, XR_007060106.1:n.1630C>G, XR_007060103.1:n.406C>T, XR_007060103.1:n.406C>G, XR_007060077.1:n.356C>T, XR_007060077.1:n.356C>G, XR_007060104.1:n.326C>T, XR_007060104.1:n.326C>G, XR_007060108.1:n.751C>T, XR_007060108.1:n.751C>G, XR_007060100.1:n.576C>T, XR_007060100.1:n.576C>G, XR_007060113.1:n.602C>T, XR_007060113.1:n.602C>G, XR_007060105.1:n.457C>T, XR_007060105.1:n.457C>G, XR_007060107.1:n.578C>T, XR_007060107.1:n.578C>G, XR_007060098.1:n.576C>T, XR_007060098.1:n.576C>G, XR_007060115.1:n.561C>T, XR_007060115.1:n.561C>G, XR_007060081.1:n.356C>T, XR_007060081.1:n.356C>G, XR_007060109.1:n.477C>T, XR_007060109.1:n.477C>G, XR_007060093.1:n.457C>T, XR_007060093.1:n.457C>G, XR_007060110.1:n.427C>T, XR_007060110.1:n.427C>G, XR_007060079.1:n.356C>T, XR_007060079.1:n.356C>G, XR_007060086.1:n.356C>T, XR_007060086.1:n.356C>G, NR_163916.1:n.421C>T, NR_163916.1:n.421C>G, NR_163917.1:n.421C>T, NR_163917.1:n.421C>G, NR_163918.1:n.406C>T, NR_163918.1:n.406C>G, NR_163914.1:n.421C>T, NR_163914.1:n.421C>G, XR_007060080.1:n.356C>T, XR_007060080.1:n.356C>G, XR_007060078.1:n.356C>T, XR_007060078.1:n.356C>G, NR_047701.1:n.439C>T, NR_047701.1:n.439C>G, XR_007060083.1:n.356C>T, XR_007060083.1:n.356C>G, XR_007060082.1:n.356C>T, XR_007060082.1:n.356C>G, XR_007060085.1:n.356C>T, XR_007060085.1:n.356C>G, XM_047420604.1:c.223C>T, XM_047420604.1:c.223C>G, XR_007060111.1:n.697C>T, XR_007060111.1:n.697C>G, XR_007060112.1:n.578C>T, XR_007060112.1:n.578C>G, XR_007060102.1:n.576C>T, XR_007060102.1:n.576C>G, XR_007060114.1:n.427C>T, XR_007060114.1:n.427C>G, XR_007060084.1:n.356C>T, XR_007060084.1:n.356C>G, NM_001371307.1:c.223C>T, NM_001371307.1:c.223C>G, XM_047420605.1:c.223C>T, XM_047420605.1:c.223C>G, NM_001371312.1:c.223C>T, NM_001371312.1:c.223C>G, NM_001371313.1:c.223C>T, NM_001371313.1:c.223C>G, XM_047420603.1:c.223C>T, XM_047420603.1:c.223C>G, NM_001371311.1:c.223C>T, NM_001371311.1:c.223C>G, NM_001371315.1:c.223C>T, NM_001371315.1:c.223C>G, NM_001371308.1:c.223C>T, NM_001371308.1:c.223C>G, NM_001371316.1:c.223C>T, NM_001371316.1:c.223C>G, NM_001371310.1:c.223C>T, NM_001371310.1:c.223C>G, NM_001371314.1:c.223C>T, NM_001371314.1:c.223C>G, NR_163919.1:n.457C>T, NR_163919.1:n.457C>G, NM_001371317.1:c.205C>T, NM_001371317.1:c.205C>G, NM_001371318.1:c.211C>T, NM_001371318.1:c.211C>G, NM_001371309.1:c.223C>T, NM_001371309.1:c.223C>G, NR_163915.1:n.356C>T, NR_163915.1:n.356C>G, NP_060694.2:p.Leu75Phe, NP_060694.2:p.Leu75Val, NP_001337856.1:p.Leu75Phe, NP_001337856.1:p.Leu75Val, NP_001308126.1:p.Leu75Phe, NP_001308126.1:p.Leu75Val, NP_001337853.1:p.Leu75Phe, NP_001337853.1:p.Leu75Val, NP_001337855.1:p.Leu75Phe, NP_001337855.1:p.Leu75Val, NP_001308129.1:p.Leu75Phe, NP_001308129.1:p.Leu75Val, NP_001308127.1:p.Leu75Phe, NP_001308127.1:p.Leu75Val, NP_001308128.1:p.Leu75Phe, NP_001308128.1:p.Leu75Val, NP_001337854.1:p.Leu75Phe, NP_001337854.1:p.Leu75Val, NP_001337857.1:p.Leu69Phe, NP_001337857.1:p.Leu69Val, NP_001308130.1:p.Leu63Phe, NP_001308130.1:p.Leu63Val, XP_047276560.1:p.Leu75Phe, XP_047276560.1:p.Leu75Val, NP_001358236.1:p.Leu75Phe, NP_001358236.1:p.Leu75Val, XP_047276561.1:p.Leu75Phe, XP_047276561.1:p.Leu75Val, NP_001358241.1:p.Leu75Phe, NP_001358241.1:p.Leu75Val, NP_001358242.1:p.Leu75Phe, NP_001358242.1:p.Leu75Val, XP_047276559.1:p.Leu75Phe, XP_047276559.1:p.Leu75Val, NP_001358240.1:p.Leu75Phe, NP_001358240.1:p.Leu75Val, NP_001358244.1:p.Leu75Phe, NP_001358244.1:p.Leu75Val, NP_001358237.1:p.Leu75Phe, NP_001358237.1:p.Leu75Val, NP_001358245.1:p.Leu75Phe, NP_001358245.1:p.Leu75Val, NP_001358239.1:p.Leu75Phe, NP_001358239.1:p.Leu75Val, NP_001358243.1:p.Leu75Phe, NP_001358243.1:p.Leu75Val, NP_001358246.1:p.Leu69Phe, NP_001358246.1:p.Leu69Val, NP_001358247.1:p.Leu71Phe, NP_001358247.1:p.Leu71Val, NP_001358238.1:p.Leu75Phe, NP_001358238.1:p.Leu75Val

          5.

          rs1464336137 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            7:43645255 (GRCh38)
            7:43684854 (GRCh37)
            Canonical SPDI:
            NC_000007.14:43645254:G:C
            Gene:
            COA1 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000007.14:g.43645255G>C, NC_000007.13:g.43684854G>C, NM_018224.4:c.260C>G, NM_018224.3:c.260C>G, NR_146941.2:n.508C>G, NR_146941.1:n.526C>G, NR_135583.2:n.393C>G, NR_135583.1:n.411C>G, NR_047701.2:n.458C>G, NR_135580.2:n.494C>G, NR_135580.1:n.512C>G, NR_135581.2:n.494C>G, NR_135581.1:n.512C>G, NR_146944.2:n.458C>G, NR_146944.1:n.476C>G, NR_135582.2:n.393C>G, NR_135582.1:n.411C>G, NR_146943.2:n.386C>G, NR_146943.1:n.404C>G, NR_146942.2:n.458C>G, NR_146942.1:n.476C>G, NR_146945.2:n.393C>G, NR_146945.1:n.411C>G, NM_001350927.2:c.260C>G, NM_001350927.1:c.260C>G, NM_001321197.2:c.260C>G, NM_001321197.1:c.260C>G, NM_001350924.2:c.260C>G, NM_001350924.1:c.260C>G, NM_001350926.2:c.260C>G, NM_001350926.1:c.260C>G, NM_001321200.2:c.260C>G, NM_001321200.1:c.260C>G, NM_001321198.2:c.260C>G, NM_001321198.1:c.260C>G, NM_001321199.2:c.260C>G, NM_001321199.1:c.260C>G, NM_001350925.2:c.260C>G, NM_001350925.1:c.260C>G, NM_001350928.2:c.242C>G, NM_001350928.1:c.242C>G, NM_001321201.2:c.224C>G, NM_001321201.1:c.224C>G, XR_007060089.1:n.1667C>G, XR_007060092.1:n.734C>G, XR_007060090.1:n.615C>G, XR_007060088.1:n.613C>G, XR_007060099.1:n.583C>G, XR_007060095.1:n.514C>G, XR_007060087.1:n.494C>G, XR_007060091.1:n.464C>G, XR_007060094.1:n.423C>G, XR_007060101.1:n.417C>G, XR_007060076.1:n.393C>G, XR_007060096.1:n.613C>G, XR_007060097.1:n.494C>G, XR_007060106.1:n.1667C>G, XR_007060103.1:n.443C>G, XR_007060077.1:n.393C>G, XR_007060104.1:n.363C>G, XR_007060108.1:n.788C>G, XR_007060100.1:n.613C>G, XR_007060113.1:n.639C>G, XR_007060105.1:n.494C>G, XR_007060107.1:n.615C>G, XR_007060098.1:n.613C>G, XR_007060115.1:n.598C>G, XR_007060081.1:n.393C>G, XR_007060109.1:n.514C>G, XR_007060093.1:n.494C>G, XR_007060110.1:n.464C>G, XR_007060079.1:n.393C>G, XR_007060086.1:n.393C>G, NR_163916.1:n.458C>G, NR_163917.1:n.458C>G, NR_163918.1:n.443C>G, NR_163914.1:n.458C>G, XR_007060080.1:n.393C>G, XR_007060078.1:n.393C>G, NR_047701.1:n.476C>G, XR_007060083.1:n.393C>G, XR_007060082.1:n.393C>G, XR_007060085.1:n.393C>G, XM_047420604.1:c.260C>G, XR_007060111.1:n.734C>G, XR_007060112.1:n.615C>G, XR_007060102.1:n.613C>G, XR_007060114.1:n.464C>G, XR_007060084.1:n.393C>G, NM_001371307.1:c.260C>G, XM_047420605.1:c.260C>G, NM_001371312.1:c.260C>G, NM_001371313.1:c.260C>G, XM_047420603.1:c.260C>G, NM_001371311.1:c.260C>G, NM_001371315.1:c.260C>G, NM_001371308.1:c.260C>G, NM_001371316.1:c.260C>G, NM_001371310.1:c.260C>G, NM_001371314.1:c.260C>G, NR_163919.1:n.494C>G, NM_001371317.1:c.242C>G, NM_001371318.1:c.248C>G, NM_001371309.1:c.260C>G, NR_163915.1:n.393C>G, NP_060694.2:p.Ala87Gly, NP_001337856.1:p.Ala87Gly, NP_001308126.1:p.Ala87Gly, NP_001337853.1:p.Ala87Gly, NP_001337855.1:p.Ala87Gly, NP_001308129.1:p.Ala87Gly, NP_001308127.1:p.Ala87Gly, NP_001308128.1:p.Ala87Gly, NP_001337854.1:p.Ala87Gly, NP_001337857.1:p.Ala81Gly, NP_001308130.1:p.Ala75Gly, XP_047276560.1:p.Ala87Gly, NP_001358236.1:p.Ala87Gly, XP_047276561.1:p.Ala87Gly, NP_001358241.1:p.Ala87Gly, NP_001358242.1:p.Ala87Gly, XP_047276559.1:p.Ala87Gly, NP_001358240.1:p.Ala87Gly, NP_001358244.1:p.Ala87Gly, NP_001358237.1:p.Ala87Gly, NP_001358245.1:p.Ala87Gly, NP_001358239.1:p.Ala87Gly, NP_001358243.1:p.Ala87Gly, NP_001358246.1:p.Ala81Gly, NP_001358247.1:p.Ala83Gly, NP_001358238.1:p.Ala87Gly

            6.

            rs1463730425 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              7:43647576 (GRCh38)
              7:43687175 (GRCh37)
              Canonical SPDI:
              NC_000007.14:43647575:A:G
              Gene:
              COA1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000071/1 (ALFA)
              G=0.000007/1 (GnomAD)
              HGVS:
              NC_000007.14:g.43647576A>G, NC_000007.13:g.43687175A>G, NM_018224.4:c.74T>C, NM_018224.3:c.74T>C, NR_146941.2:n.322T>C, NR_146941.1:n.340T>C, NR_135583.2:n.207T>C, NR_135583.1:n.225T>C, NR_146940.2:n.207T>C, NR_146940.1:n.225T>C, NR_047701.2:n.272T>C, NR_135580.2:n.308T>C, NR_135580.1:n.326T>C, NR_135581.2:n.308T>C, NR_135581.1:n.326T>C, NR_146944.2:n.272T>C, NR_146944.1:n.290T>C, NR_135582.2:n.207T>C, NR_135582.1:n.225T>C, NR_146943.2:n.200T>C, NR_146943.1:n.218T>C, NR_146942.2:n.272T>C, NR_146942.1:n.290T>C, NR_146945.2:n.207T>C, NR_146945.1:n.225T>C, NM_001321205.2:c.74T>C, NM_001321205.1:c.74T>C, NM_001321202.2:c.74T>C, NM_001321202.1:c.74T>C, NM_001321204.2:c.74T>C, NM_001321204.1:c.74T>C, NM_001321203.2:c.74T>C, NM_001321203.1:c.74T>C, NM_001350927.2:c.74T>C, NM_001350927.1:c.74T>C, NM_001321197.2:c.74T>C, NM_001321197.1:c.74T>C, NM_001350924.2:c.74T>C, NM_001350924.1:c.74T>C, NM_001350926.2:c.74T>C, NM_001350926.1:c.74T>C, NM_001321200.2:c.74T>C, NM_001321200.1:c.74T>C, NM_001321198.2:c.74T>C, NM_001321198.1:c.74T>C, NM_001321199.2:c.74T>C, NM_001321199.1:c.74T>C, NM_001350925.2:c.74T>C, NM_001350925.1:c.74T>C, NM_001350928.2:c.58T>C, NM_001350928.1:c.58T>C, NM_001321201.2:c.38T>C, NM_001321201.1:c.38T>C, XR_007060089.1:n.1481T>C, XR_007060092.1:n.548T>C, XR_007060090.1:n.429T>C, XR_007060088.1:n.427T>C, XR_007060099.1:n.397T>C, XR_007060095.1:n.328T>C, XR_007060087.1:n.308T>C, XR_007060091.1:n.278T>C, XR_007060094.1:n.237T>C, XR_007060101.1:n.231T>C, XR_007060076.1:n.207T>C, XR_007060096.1:n.427T>C, XR_007060097.1:n.308T>C, XR_007060106.1:n.1481T>C, XR_007060103.1:n.257T>C, XR_007060077.1:n.207T>C, XR_007060104.1:n.177T>C, XR_007060108.1:n.602T>C, XR_007060100.1:n.427T>C, XR_007060113.1:n.453T>C, XR_007060105.1:n.308T>C, XR_007060107.1:n.429T>C, XR_007060098.1:n.427T>C, XR_007060115.1:n.412T>C, XR_007060081.1:n.207T>C, XR_007060109.1:n.328T>C, XR_007060093.1:n.308T>C, XR_007060110.1:n.278T>C, XR_007060079.1:n.207T>C, XR_007060086.1:n.207T>C, NR_163916.1:n.272T>C, NR_163917.1:n.272T>C, NR_163918.1:n.257T>C, NR_163914.1:n.272T>C, XR_007060080.1:n.207T>C, XR_007060078.1:n.207T>C, NR_047701.1:n.290T>C, XR_007060083.1:n.207T>C, XR_007060082.1:n.207T>C, XR_007060085.1:n.207T>C, XM_047420604.1:c.74T>C, XR_007060111.1:n.548T>C, XR_007060112.1:n.429T>C, XR_007060102.1:n.427T>C, XR_007060114.1:n.278T>C, XR_007060084.1:n.207T>C, NM_001371307.1:c.74T>C, XM_047420605.1:c.74T>C, NM_001371312.1:c.74T>C, NM_001371313.1:c.74T>C, XM_047420603.1:c.74T>C, NM_001371311.1:c.74T>C, NM_001371315.1:c.74T>C, NM_001371308.1:c.74T>C, NM_001371316.1:c.74T>C, NM_001371310.1:c.74T>C, NM_001371314.1:c.74T>C, NR_163919.1:n.308T>C, NM_001371317.1:c.58T>C, NM_001371318.1:c.58T>C, NM_001371309.1:c.74T>C, NR_163915.1:n.207T>C, NP_060694.2:p.Phe25Ser, NP_001308134.1:p.Phe25Ser, NP_001308131.1:p.Phe25Ser, NP_001308133.1:p.Phe25Ser, NP_001308132.1:p.Phe25Ser, NP_001337856.1:p.Phe25Ser, NP_001308126.1:p.Phe25Ser, NP_001337853.1:p.Phe25Ser, NP_001337855.1:p.Phe25Ser, NP_001308129.1:p.Phe25Ser, NP_001308127.1:p.Phe25Ser, NP_001308128.1:p.Phe25Ser, NP_001337854.1:p.Phe25Ser, NP_001337857.1:p.Ser20Pro, NP_001308130.1:p.Phe13Ser, XP_047276560.1:p.Phe25Ser, NP_001358236.1:p.Phe25Ser, XP_047276561.1:p.Phe25Ser, NP_001358241.1:p.Phe25Ser, NP_001358242.1:p.Phe25Ser, XP_047276559.1:p.Phe25Ser, NP_001358240.1:p.Phe25Ser, NP_001358244.1:p.Phe25Ser, NP_001358237.1:p.Phe25Ser, NP_001358245.1:p.Phe25Ser, NP_001358239.1:p.Phe25Ser, NP_001358243.1:p.Phe25Ser, NP_001358246.1:p.Ser20Pro, NP_001358247.1:p.Ser20Pro, NP_001358238.1:p.Phe25Ser

              7.

              rs1429015128 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                7:43645265 (GRCh38)
                7:43684864 (GRCh37)
                Canonical SPDI:
                NC_000007.14:43645264:T:G
                Gene:
                COA1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                NC_000007.14:g.43645265T>G, NC_000007.13:g.43684864T>G, NM_018224.4:c.250A>C, NM_018224.3:c.250A>C, NR_146941.2:n.498A>C, NR_146941.1:n.516A>C, NR_135583.2:n.383A>C, NR_135583.1:n.401A>C, NR_047701.2:n.448A>C, NR_135580.2:n.484A>C, NR_135580.1:n.502A>C, NR_135581.2:n.484A>C, NR_135581.1:n.502A>C, NR_146944.2:n.448A>C, NR_146944.1:n.466A>C, NR_135582.2:n.383A>C, NR_135582.1:n.401A>C, NR_146943.2:n.376A>C, NR_146943.1:n.394A>C, NR_146942.2:n.448A>C, NR_146942.1:n.466A>C, NR_146945.2:n.383A>C, NR_146945.1:n.401A>C, NM_001350927.2:c.250A>C, NM_001350927.1:c.250A>C, NM_001321197.2:c.250A>C, NM_001321197.1:c.250A>C, NM_001350924.2:c.250A>C, NM_001350924.1:c.250A>C, NM_001350926.2:c.250A>C, NM_001350926.1:c.250A>C, NM_001321200.2:c.250A>C, NM_001321200.1:c.250A>C, NM_001321198.2:c.250A>C, NM_001321198.1:c.250A>C, NM_001321199.2:c.250A>C, NM_001321199.1:c.250A>C, NM_001350925.2:c.250A>C, NM_001350925.1:c.250A>C, NM_001350928.2:c.232A>C, NM_001350928.1:c.232A>C, NM_001321201.2:c.214A>C, NM_001321201.1:c.214A>C, XR_007060089.1:n.1657A>C, XR_007060092.1:n.724A>C, XR_007060090.1:n.605A>C, XR_007060088.1:n.603A>C, XR_007060099.1:n.573A>C, XR_007060095.1:n.504A>C, XR_007060087.1:n.484A>C, XR_007060091.1:n.454A>C, XR_007060094.1:n.413A>C, XR_007060101.1:n.407A>C, XR_007060076.1:n.383A>C, XR_007060096.1:n.603A>C, XR_007060097.1:n.484A>C, XR_007060106.1:n.1657A>C, XR_007060103.1:n.433A>C, XR_007060077.1:n.383A>C, XR_007060104.1:n.353A>C, XR_007060108.1:n.778A>C, XR_007060100.1:n.603A>C, XR_007060113.1:n.629A>C, XR_007060105.1:n.484A>C, XR_007060107.1:n.605A>C, XR_007060098.1:n.603A>C, XR_007060115.1:n.588A>C, XR_007060081.1:n.383A>C, XR_007060109.1:n.504A>C, XR_007060093.1:n.484A>C, XR_007060110.1:n.454A>C, XR_007060079.1:n.383A>C, XR_007060086.1:n.383A>C, NR_163916.1:n.448A>C, NR_163917.1:n.448A>C, NR_163918.1:n.433A>C, NR_163914.1:n.448A>C, XR_007060080.1:n.383A>C, XR_007060078.1:n.383A>C, NR_047701.1:n.466A>C, XR_007060083.1:n.383A>C, XR_007060082.1:n.383A>C, XR_007060085.1:n.383A>C, XM_047420604.1:c.250A>C, XR_007060111.1:n.724A>C, XR_007060112.1:n.605A>C, XR_007060102.1:n.603A>C, XR_007060114.1:n.454A>C, XR_007060084.1:n.383A>C, NM_001371307.1:c.250A>C, XM_047420605.1:c.250A>C, NM_001371312.1:c.250A>C, NM_001371313.1:c.250A>C, XM_047420603.1:c.250A>C, NM_001371311.1:c.250A>C, NM_001371315.1:c.250A>C, NM_001371308.1:c.250A>C, NM_001371316.1:c.250A>C, NM_001371310.1:c.250A>C, NM_001371314.1:c.250A>C, NR_163919.1:n.484A>C, NM_001371317.1:c.232A>C, NM_001371318.1:c.238A>C, NM_001371309.1:c.250A>C, NR_163915.1:n.383A>C, NP_060694.2:p.Ile84Leu, NP_001337856.1:p.Ile84Leu, NP_001308126.1:p.Ile84Leu, NP_001337853.1:p.Ile84Leu, NP_001337855.1:p.Ile84Leu, NP_001308129.1:p.Ile84Leu, NP_001308127.1:p.Ile84Leu, NP_001308128.1:p.Ile84Leu, NP_001337854.1:p.Ile84Leu, NP_001337857.1:p.Ile78Leu, NP_001308130.1:p.Ile72Leu, XP_047276560.1:p.Ile84Leu, NP_001358236.1:p.Ile84Leu, XP_047276561.1:p.Ile84Leu, NP_001358241.1:p.Ile84Leu, NP_001358242.1:p.Ile84Leu, XP_047276559.1:p.Ile84Leu, NP_001358240.1:p.Ile84Leu, NP_001358244.1:p.Ile84Leu, NP_001358237.1:p.Ile84Leu, NP_001358245.1:p.Ile84Leu, NP_001358239.1:p.Ile84Leu, NP_001358243.1:p.Ile84Leu, NP_001358246.1:p.Ile78Leu, NP_001358247.1:p.Ile80Leu, NP_001358238.1:p.Ile84Leu

                8.

                rs1425754796 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  7:43647544 (GRCh38)
                  7:43687143 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:43647543:G:A
                  Gene:
                  COA1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000007.14:g.43647544G>A, NC_000007.13:g.43687143G>A, NM_018224.4:c.106C>T, NM_018224.3:c.106C>T, NR_146941.2:n.354C>T, NR_146941.1:n.372C>T, NR_135583.2:n.239C>T, NR_135583.1:n.257C>T, NR_146940.2:n.239C>T, NR_146940.1:n.257C>T, NR_047701.2:n.304C>T, NR_135580.2:n.340C>T, NR_135580.1:n.358C>T, NR_135581.2:n.340C>T, NR_135581.1:n.358C>T, NR_146944.2:n.304C>T, NR_146944.1:n.322C>T, NR_135582.2:n.239C>T, NR_135582.1:n.257C>T, NR_146943.2:n.232C>T, NR_146943.1:n.250C>T, NR_146942.2:n.304C>T, NR_146942.1:n.322C>T, NR_146945.2:n.239C>T, NR_146945.1:n.257C>T, NM_001321205.2:c.106C>T, NM_001321205.1:c.106C>T, NM_001321202.2:c.106C>T, NM_001321202.1:c.106C>T, NM_001321204.2:c.106C>T, NM_001321204.1:c.106C>T, NM_001321203.2:c.106C>T, NM_001321203.1:c.106C>T, NM_001350927.2:c.106C>T, NM_001350927.1:c.106C>T, NM_001321197.2:c.106C>T, NM_001321197.1:c.106C>T, NM_001350924.2:c.106C>T, NM_001350924.1:c.106C>T, NM_001350926.2:c.106C>T, NM_001350926.1:c.106C>T, NM_001321200.2:c.106C>T, NM_001321200.1:c.106C>T, NM_001321198.2:c.106C>T, NM_001321198.1:c.106C>T, NM_001321199.2:c.106C>T, NM_001321199.1:c.106C>T, NM_001350925.2:c.106C>T, NM_001350925.1:c.106C>T, NM_001350928.2:c.90C>T, NM_001350928.1:c.90C>T, NM_001321201.2:c.70C>T, NM_001321201.1:c.70C>T, XR_007060089.1:n.1513C>T, XR_007060092.1:n.580C>T, XR_007060090.1:n.461C>T, XR_007060088.1:n.459C>T, XR_007060099.1:n.429C>T, XR_007060095.1:n.360C>T, XR_007060087.1:n.340C>T, XR_007060091.1:n.310C>T, XR_007060094.1:n.269C>T, XR_007060101.1:n.263C>T, XR_007060076.1:n.239C>T, XR_007060096.1:n.459C>T, XR_007060097.1:n.340C>T, XR_007060106.1:n.1513C>T, XR_007060103.1:n.289C>T, XR_007060077.1:n.239C>T, XR_007060104.1:n.209C>T, XR_007060108.1:n.634C>T, XR_007060100.1:n.459C>T, XR_007060113.1:n.485C>T, XR_007060105.1:n.340C>T, XR_007060107.1:n.461C>T, XR_007060098.1:n.459C>T, XR_007060115.1:n.444C>T, XR_007060081.1:n.239C>T, XR_007060109.1:n.360C>T, XR_007060093.1:n.340C>T, XR_007060110.1:n.310C>T, XR_007060079.1:n.239C>T, XR_007060086.1:n.239C>T, NR_163916.1:n.304C>T, NR_163917.1:n.304C>T, NR_163918.1:n.289C>T, NR_163914.1:n.304C>T, XR_007060080.1:n.239C>T, XR_007060078.1:n.239C>T, NR_047701.1:n.322C>T, XR_007060083.1:n.239C>T, XR_007060082.1:n.239C>T, XR_007060085.1:n.239C>T, XM_047420604.1:c.106C>T, XR_007060111.1:n.580C>T, XR_007060112.1:n.461C>T, XR_007060102.1:n.459C>T, XR_007060114.1:n.310C>T, XR_007060084.1:n.239C>T, NM_001371307.1:c.106C>T, XM_047420605.1:c.106C>T, NM_001371312.1:c.106C>T, NM_001371313.1:c.106C>T, XM_047420603.1:c.106C>T, NM_001371311.1:c.106C>T, NM_001371315.1:c.106C>T, NM_001371308.1:c.106C>T, NM_001371316.1:c.106C>T, NM_001371310.1:c.106C>T, NM_001371314.1:c.106C>T, NR_163919.1:n.340C>T, NM_001371317.1:c.90C>T, NM_001371318.1:c.90C>T, NM_001371309.1:c.106C>T, NR_163915.1:n.239C>T, NP_060694.2:p.Leu36Phe, NP_001308134.1:p.Leu36Phe, NP_001308131.1:p.Leu36Phe, NP_001308133.1:p.Leu36Phe, NP_001308132.1:p.Leu36Phe, NP_001337856.1:p.Leu36Phe, NP_001308126.1:p.Leu36Phe, NP_001337853.1:p.Leu36Phe, NP_001337855.1:p.Leu36Phe, NP_001308129.1:p.Leu36Phe, NP_001308127.1:p.Leu36Phe, NP_001308128.1:p.Leu36Phe, NP_001337854.1:p.Leu36Phe, NP_001308130.1:p.Leu24Phe, XP_047276560.1:p.Leu36Phe, NP_001358236.1:p.Leu36Phe, XP_047276561.1:p.Leu36Phe, NP_001358241.1:p.Leu36Phe, NP_001358242.1:p.Leu36Phe, XP_047276559.1:p.Leu36Phe, NP_001358240.1:p.Leu36Phe, NP_001358244.1:p.Leu36Phe, NP_001358237.1:p.Leu36Phe, NP_001358245.1:p.Leu36Phe, NP_001358239.1:p.Leu36Phe, NP_001358243.1:p.Leu36Phe, NP_001358238.1:p.Leu36Phe

                  9.

                  rs1425261150 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    7:43640588 (GRCh38)
                    7:43680187 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:43640587:C:T
                    Gene:
                    COA1 (Varview)
                    Functional Consequence:
                    missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000007.14:g.43640588C>T, NC_000007.13:g.43680187C>T, NM_018224.4:c.326G>A, NM_018224.3:c.326G>A, NR_146941.2:n.574G>A, NR_146941.1:n.592G>A, NR_135583.2:n.459G>A, NR_135583.1:n.477G>A, NR_146940.2:n.310G>A, NR_146940.1:n.328G>A, NR_047701.2:n.524G>A, NR_135580.2:n.560G>A, NR_135580.1:n.578G>A, NR_135581.2:n.560G>A, NR_135581.1:n.578G>A, NR_146944.2:n.524G>A, NR_146944.1:n.542G>A, NR_135582.2:n.459G>A, NR_135582.1:n.477G>A, NR_146943.2:n.452G>A, NR_146943.1:n.470G>A, NR_146942.2:n.524G>A, NR_146942.1:n.542G>A, NR_146945.2:n.459G>A, NR_146945.1:n.477G>A, NM_001350927.2:c.326G>A, NM_001350927.1:c.326G>A, NM_001321197.2:c.326G>A, NM_001321197.1:c.326G>A, NM_001350924.2:c.326G>A, NM_001350924.1:c.326G>A, NM_001350926.2:c.326G>A, NM_001350926.1:c.326G>A, NM_001321200.2:c.326G>A, NM_001321200.1:c.326G>A, NM_001321198.2:c.326G>A, NM_001321198.1:c.326G>A, NM_001321199.2:c.326G>A, NM_001321199.1:c.326G>A, NM_001350925.2:c.326G>A, NM_001350925.1:c.326G>A, NM_001350928.2:c.308G>A, NM_001350928.1:c.308G>A, NM_001321201.2:c.290G>A, NM_001321201.1:c.290G>A, XR_007060089.1:n.1733G>A, XR_007060092.1:n.800G>A, XR_007060090.1:n.681G>A, XR_007060088.1:n.679G>A, XR_007060099.1:n.649G>A, XR_007060095.1:n.580G>A, XR_007060087.1:n.560G>A, XR_007060091.1:n.530G>A, XR_007060094.1:n.489G>A, XR_007060101.1:n.483G>A, XR_007060076.1:n.459G>A, XR_007060096.1:n.679G>A, XR_007060097.1:n.560G>A, XR_007060106.1:n.1733G>A, XR_007060103.1:n.509G>A, XR_007060077.1:n.459G>A, XR_007060104.1:n.429G>A, XR_007060108.1:n.854G>A, XR_007060100.1:n.679G>A, XR_007060113.1:n.705G>A, XR_007060105.1:n.560G>A, XR_007060107.1:n.681G>A, XR_007060098.1:n.679G>A, XR_007060115.1:n.664G>A, XR_007060081.1:n.459G>A, XR_007060109.1:n.580G>A, XR_007060093.1:n.560G>A, XR_007060110.1:n.530G>A, XR_007060079.1:n.459G>A, XR_007060086.1:n.459G>A, NR_163916.1:n.524G>A, NR_163917.1:n.524G>A, NR_163918.1:n.509G>A, NR_163914.1:n.524G>A, XR_007060080.1:n.459G>A, XR_007060078.1:n.459G>A, NR_047701.1:n.542G>A, XR_007060083.1:n.459G>A, XR_007060082.1:n.459G>A, XR_007060085.1:n.459G>A, XM_047420604.1:c.326G>A, XR_007060111.1:n.800G>A, XR_007060112.1:n.681G>A, XR_007060102.1:n.679G>A, XR_007060114.1:n.530G>A, XR_007060084.1:n.459G>A, NM_001371307.1:c.326G>A, XM_047420605.1:c.326G>A, NM_001371312.1:c.326G>A, NM_001371313.1:c.326G>A, XM_047420603.1:c.326G>A, NM_001371311.1:c.326G>A, NM_001371315.1:c.326G>A, NM_001371308.1:c.326G>A, NM_001371316.1:c.326G>A, NM_001371310.1:c.326G>A, NM_001371314.1:c.326G>A, NR_163919.1:n.565G>A, NM_001371317.1:c.308G>A, NM_001371318.1:c.314G>A, NM_001371309.1:c.326G>A, NR_163915.1:n.464G>A, NP_060694.2:p.Gly109Asp, NP_001337856.1:p.Gly109Asp, NP_001308126.1:p.Gly109Asp, NP_001337853.1:p.Gly109Asp, NP_001337855.1:p.Gly109Asp, NP_001308129.1:p.Gly109Asp, NP_001308127.1:p.Gly109Asp, NP_001308128.1:p.Gly109Asp, NP_001337854.1:p.Gly109Asp, NP_001337857.1:p.Gly103Asp, NP_001308130.1:p.Gly97Asp, XP_047276560.1:p.Gly109Asp, NP_001358236.1:p.Gly109Asp, XP_047276561.1:p.Gly109Asp, NP_001358241.1:p.Gly109Asp, NP_001358242.1:p.Gly109Asp, XP_047276559.1:p.Gly109Asp, NP_001358240.1:p.Gly109Asp, NP_001358244.1:p.Gly109Asp, NP_001358237.1:p.Gly109Asp, NP_001358245.1:p.Gly109Asp, NP_001358239.1:p.Gly109Asp, NP_001358243.1:p.Gly109Asp, NP_001358246.1:p.Gly103Asp, NP_001358247.1:p.Gly105Asp, NP_001358238.1:p.Gly109Asp

                    10.

                    rs1398093956 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      7:43640615 (GRCh38)
                      7:43680214 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:43640614:C:A,NC_000007.14:43640614:C:T
                      Gene:
                      COA1 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000007.14:g.43640615C>A, NC_000007.14:g.43640615C>T, NC_000007.13:g.43680214C>A, NC_000007.13:g.43680214C>T, NM_018224.4:c.299G>T, NM_018224.4:c.299G>A, NM_018224.3:c.299G>T, NM_018224.3:c.299G>A, NR_146941.2:n.547G>T, NR_146941.2:n.547G>A, NR_146941.1:n.565G>T, NR_146941.1:n.565G>A, NR_135583.2:n.432G>T, NR_135583.2:n.432G>A, NR_135583.1:n.450G>T, NR_135583.1:n.450G>A, NR_146940.2:n.283G>T, NR_146940.2:n.283G>A, NR_146940.1:n.301G>T, NR_146940.1:n.301G>A, NR_047701.2:n.497G>T, NR_047701.2:n.497G>A, NR_135580.2:n.533G>T, NR_135580.2:n.533G>A, NR_135580.1:n.551G>T, NR_135580.1:n.551G>A, NR_135581.2:n.533G>T, NR_135581.2:n.533G>A, NR_135581.1:n.551G>T, NR_135581.1:n.551G>A, NR_146944.2:n.497G>T, NR_146944.2:n.497G>A, NR_146944.1:n.515G>T, NR_146944.1:n.515G>A, NR_135582.2:n.432G>T, NR_135582.2:n.432G>A, NR_135582.1:n.450G>T, NR_135582.1:n.450G>A, NR_146943.2:n.425G>T, NR_146943.2:n.425G>A, NR_146943.1:n.443G>T, NR_146943.1:n.443G>A, NR_146942.2:n.497G>T, NR_146942.2:n.497G>A, NR_146942.1:n.515G>T, NR_146942.1:n.515G>A, NR_146945.2:n.432G>T, NR_146945.2:n.432G>A, NR_146945.1:n.450G>T, NR_146945.1:n.450G>A, NM_001350927.2:c.299G>T, NM_001350927.2:c.299G>A, NM_001350927.1:c.299G>T, NM_001350927.1:c.299G>A, NM_001321197.2:c.299G>T, NM_001321197.2:c.299G>A, NM_001321197.1:c.299G>T, NM_001321197.1:c.299G>A, NM_001350924.2:c.299G>T, NM_001350924.2:c.299G>A, NM_001350924.1:c.299G>T, NM_001350924.1:c.299G>A, NM_001350926.2:c.299G>T, NM_001350926.2:c.299G>A, NM_001350926.1:c.299G>T, NM_001350926.1:c.299G>A, NM_001321200.2:c.299G>T, NM_001321200.2:c.299G>A, NM_001321200.1:c.299G>T, NM_001321200.1:c.299G>A, NM_001321198.2:c.299G>T, NM_001321198.2:c.299G>A, NM_001321198.1:c.299G>T, NM_001321198.1:c.299G>A, NM_001321199.2:c.299G>T, NM_001321199.2:c.299G>A, NM_001321199.1:c.299G>T, NM_001321199.1:c.299G>A, NM_001350925.2:c.299G>T, NM_001350925.2:c.299G>A, NM_001350925.1:c.299G>T, NM_001350925.1:c.299G>A, NM_001350928.2:c.281G>T, NM_001350928.2:c.281G>A, NM_001350928.1:c.281G>T, NM_001350928.1:c.281G>A, NM_001321201.2:c.263G>T, NM_001321201.2:c.263G>A, NM_001321201.1:c.263G>T, NM_001321201.1:c.263G>A, XR_007060089.1:n.1706G>T, XR_007060089.1:n.1706G>A, XR_007060092.1:n.773G>T, XR_007060092.1:n.773G>A, XR_007060090.1:n.654G>T, XR_007060090.1:n.654G>A, XR_007060088.1:n.652G>T, XR_007060088.1:n.652G>A, XR_007060099.1:n.622G>T, XR_007060099.1:n.622G>A, XR_007060095.1:n.553G>T, XR_007060095.1:n.553G>A, XR_007060087.1:n.533G>T, XR_007060087.1:n.533G>A, XR_007060091.1:n.503G>T, XR_007060091.1:n.503G>A, XR_007060094.1:n.462G>T, XR_007060094.1:n.462G>A, XR_007060101.1:n.456G>T, XR_007060101.1:n.456G>A, XR_007060076.1:n.432G>T, XR_007060076.1:n.432G>A, XR_007060096.1:n.652G>T, XR_007060096.1:n.652G>A, XR_007060097.1:n.533G>T, XR_007060097.1:n.533G>A, XR_007060106.1:n.1706G>T, XR_007060106.1:n.1706G>A, XR_007060103.1:n.482G>T, XR_007060103.1:n.482G>A, XR_007060077.1:n.432G>T, XR_007060077.1:n.432G>A, XR_007060104.1:n.402G>T, XR_007060104.1:n.402G>A, XR_007060108.1:n.827G>T, XR_007060108.1:n.827G>A, XR_007060100.1:n.652G>T, XR_007060100.1:n.652G>A, XR_007060113.1:n.678G>T, XR_007060113.1:n.678G>A, XR_007060105.1:n.533G>T, XR_007060105.1:n.533G>A, XR_007060107.1:n.654G>T, XR_007060107.1:n.654G>A, XR_007060098.1:n.652G>T, XR_007060098.1:n.652G>A, XR_007060115.1:n.637G>T, XR_007060115.1:n.637G>A, XR_007060081.1:n.432G>T, XR_007060081.1:n.432G>A, XR_007060109.1:n.553G>T, XR_007060109.1:n.553G>A, XR_007060093.1:n.533G>T, XR_007060093.1:n.533G>A, XR_007060110.1:n.503G>T, XR_007060110.1:n.503G>A, XR_007060079.1:n.432G>T, XR_007060079.1:n.432G>A, XR_007060086.1:n.432G>T, XR_007060086.1:n.432G>A, NR_163916.1:n.497G>T, NR_163916.1:n.497G>A, NR_163917.1:n.497G>T, NR_163917.1:n.497G>A, NR_163918.1:n.482G>T, NR_163918.1:n.482G>A, NR_163914.1:n.497G>T, NR_163914.1:n.497G>A, XR_007060080.1:n.432G>T, XR_007060080.1:n.432G>A, XR_007060078.1:n.432G>T, XR_007060078.1:n.432G>A, NR_047701.1:n.515G>T, NR_047701.1:n.515G>A, XR_007060083.1:n.432G>T, XR_007060083.1:n.432G>A, XR_007060082.1:n.432G>T, XR_007060082.1:n.432G>A, XR_007060085.1:n.432G>T, XR_007060085.1:n.432G>A, XM_047420604.1:c.299G>T, XM_047420604.1:c.299G>A, XR_007060111.1:n.773G>T, XR_007060111.1:n.773G>A, XR_007060112.1:n.654G>T, XR_007060112.1:n.654G>A, XR_007060102.1:n.652G>T, XR_007060102.1:n.652G>A, XR_007060114.1:n.503G>T, XR_007060114.1:n.503G>A, XR_007060084.1:n.432G>T, XR_007060084.1:n.432G>A, NM_001371307.1:c.299G>T, NM_001371307.1:c.299G>A, XM_047420605.1:c.299G>T, XM_047420605.1:c.299G>A, NM_001371312.1:c.299G>T, NM_001371312.1:c.299G>A, NM_001371313.1:c.299G>T, NM_001371313.1:c.299G>A, XM_047420603.1:c.299G>T, XM_047420603.1:c.299G>A, NM_001371311.1:c.299G>T, NM_001371311.1:c.299G>A, NM_001371315.1:c.299G>T, NM_001371315.1:c.299G>A, NM_001371308.1:c.299G>T, NM_001371308.1:c.299G>A, NM_001371316.1:c.299G>T, NM_001371316.1:c.299G>A, NM_001371310.1:c.299G>T, NM_001371310.1:c.299G>A, NM_001371314.1:c.299G>T, NM_001371314.1:c.299G>A, NR_163919.1:n.538G>T, NR_163919.1:n.538G>A, NM_001371317.1:c.281G>T, NM_001371317.1:c.281G>A, NM_001371318.1:c.287G>T, NM_001371318.1:c.287G>A, NM_001371309.1:c.299G>T, NM_001371309.1:c.299G>A, NR_163915.1:n.437G>T, NR_163915.1:n.437G>A, NP_060694.2:p.Gly100Val, NP_060694.2:p.Gly100Asp, NP_001337856.1:p.Gly100Val, NP_001337856.1:p.Gly100Asp, NP_001308126.1:p.Gly100Val, NP_001308126.1:p.Gly100Asp, NP_001337853.1:p.Gly100Val, NP_001337853.1:p.Gly100Asp, NP_001337855.1:p.Gly100Val, NP_001337855.1:p.Gly100Asp, NP_001308129.1:p.Gly100Val, NP_001308129.1:p.Gly100Asp, NP_001308127.1:p.Gly100Val, NP_001308127.1:p.Gly100Asp, NP_001308128.1:p.Gly100Val, NP_001308128.1:p.Gly100Asp, NP_001337854.1:p.Gly100Val, NP_001337854.1:p.Gly100Asp, NP_001337857.1:p.Gly94Val, NP_001337857.1:p.Gly94Asp, NP_001308130.1:p.Gly88Val, NP_001308130.1:p.Gly88Asp, XP_047276560.1:p.Gly100Val, XP_047276560.1:p.Gly100Asp, NP_001358236.1:p.Gly100Val, NP_001358236.1:p.Gly100Asp, XP_047276561.1:p.Gly100Val, XP_047276561.1:p.Gly100Asp, NP_001358241.1:p.Gly100Val, NP_001358241.1:p.Gly100Asp, NP_001358242.1:p.Gly100Val, NP_001358242.1:p.Gly100Asp, XP_047276559.1:p.Gly100Val, XP_047276559.1:p.Gly100Asp, NP_001358240.1:p.Gly100Val, NP_001358240.1:p.Gly100Asp, NP_001358244.1:p.Gly100Val, NP_001358244.1:p.Gly100Asp, NP_001358237.1:p.Gly100Val, NP_001358237.1:p.Gly100Asp, NP_001358245.1:p.Gly100Val, NP_001358245.1:p.Gly100Asp, NP_001358239.1:p.Gly100Val, NP_001358239.1:p.Gly100Asp, NP_001358243.1:p.Gly100Val, NP_001358243.1:p.Gly100Asp, NP_001358246.1:p.Gly94Val, NP_001358246.1:p.Gly94Asp, NP_001358247.1:p.Gly96Val, NP_001358247.1:p.Gly96Asp, NP_001358238.1:p.Gly100Val, NP_001358238.1:p.Gly100Asp

                      11.

                      rs1387963796 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        7:43647550 (GRCh38)
                        7:43687149 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:43647549:A:G
                        Gene:
                        COA1 (Varview)
                        Functional Consequence:
                        missense_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                        HGVS:
                        NC_000007.14:g.43647550A>G, NC_000007.13:g.43687149A>G, NM_018224.4:c.100T>C, NM_018224.3:c.100T>C, NR_146941.2:n.348T>C, NR_146941.1:n.366T>C, NR_135583.2:n.233T>C, NR_135583.1:n.251T>C, NR_146940.2:n.233T>C, NR_146940.1:n.251T>C, NR_047701.2:n.298T>C, NR_135580.2:n.334T>C, NR_135580.1:n.352T>C, NR_135581.2:n.334T>C, NR_135581.1:n.352T>C, NR_146944.2:n.298T>C, NR_146944.1:n.316T>C, NR_135582.2:n.233T>C, NR_135582.1:n.251T>C, NR_146943.2:n.226T>C, NR_146943.1:n.244T>C, NR_146942.2:n.298T>C, NR_146942.1:n.316T>C, NR_146945.2:n.233T>C, NR_146945.1:n.251T>C, NM_001321205.2:c.100T>C, NM_001321205.1:c.100T>C, NM_001321202.2:c.100T>C, NM_001321202.1:c.100T>C, NM_001321204.2:c.100T>C, NM_001321204.1:c.100T>C, NM_001321203.2:c.100T>C, NM_001321203.1:c.100T>C, NM_001350927.2:c.100T>C, NM_001350927.1:c.100T>C, NM_001321197.2:c.100T>C, NM_001321197.1:c.100T>C, NM_001350924.2:c.100T>C, NM_001350924.1:c.100T>C, NM_001350926.2:c.100T>C, NM_001350926.1:c.100T>C, NM_001321200.2:c.100T>C, NM_001321200.1:c.100T>C, NM_001321198.2:c.100T>C, NM_001321198.1:c.100T>C, NM_001321199.2:c.100T>C, NM_001321199.1:c.100T>C, NM_001350925.2:c.100T>C, NM_001350925.1:c.100T>C, NM_001350928.2:c.84T>C, NM_001350928.1:c.84T>C, NM_001321201.2:c.64T>C, NM_001321201.1:c.64T>C, XR_007060089.1:n.1507T>C, XR_007060092.1:n.574T>C, XR_007060090.1:n.455T>C, XR_007060088.1:n.453T>C, XR_007060099.1:n.423T>C, XR_007060095.1:n.354T>C, XR_007060087.1:n.334T>C, XR_007060091.1:n.304T>C, XR_007060094.1:n.263T>C, XR_007060101.1:n.257T>C, XR_007060076.1:n.233T>C, XR_007060096.1:n.453T>C, XR_007060097.1:n.334T>C, XR_007060106.1:n.1507T>C, XR_007060103.1:n.283T>C, XR_007060077.1:n.233T>C, XR_007060104.1:n.203T>C, XR_007060108.1:n.628T>C, XR_007060100.1:n.453T>C, XR_007060113.1:n.479T>C, XR_007060105.1:n.334T>C, XR_007060107.1:n.455T>C, XR_007060098.1:n.453T>C, XR_007060115.1:n.438T>C, XR_007060081.1:n.233T>C, XR_007060109.1:n.354T>C, XR_007060093.1:n.334T>C, XR_007060110.1:n.304T>C, XR_007060079.1:n.233T>C, XR_007060086.1:n.233T>C, NR_163916.1:n.298T>C, NR_163917.1:n.298T>C, NR_163918.1:n.283T>C, NR_163914.1:n.298T>C, XR_007060080.1:n.233T>C, XR_007060078.1:n.233T>C, NR_047701.1:n.316T>C, XR_007060083.1:n.233T>C, XR_007060082.1:n.233T>C, XR_007060085.1:n.233T>C, XM_047420604.1:c.100T>C, XR_007060111.1:n.574T>C, XR_007060112.1:n.455T>C, XR_007060102.1:n.453T>C, XR_007060114.1:n.304T>C, XR_007060084.1:n.233T>C, NM_001371307.1:c.100T>C, XM_047420605.1:c.100T>C, NM_001371312.1:c.100T>C, NM_001371313.1:c.100T>C, XM_047420603.1:c.100T>C, NM_001371311.1:c.100T>C, NM_001371315.1:c.100T>C, NM_001371308.1:c.100T>C, NM_001371316.1:c.100T>C, NM_001371310.1:c.100T>C, NM_001371314.1:c.100T>C, NR_163919.1:n.334T>C, NM_001371317.1:c.84T>C, NM_001371318.1:c.84T>C, NM_001371309.1:c.100T>C, NR_163915.1:n.233T>C, NP_060694.2:p.Tyr34His, NP_001308134.1:p.Tyr34His, NP_001308131.1:p.Tyr34His, NP_001308133.1:p.Tyr34His, NP_001308132.1:p.Tyr34His, NP_001337856.1:p.Tyr34His, NP_001308126.1:p.Tyr34His, NP_001337853.1:p.Tyr34His, NP_001337855.1:p.Tyr34His, NP_001308129.1:p.Tyr34His, NP_001308127.1:p.Tyr34His, NP_001308128.1:p.Tyr34His, NP_001337854.1:p.Tyr34His, NP_001308130.1:p.Tyr22His, XP_047276560.1:p.Tyr34His, NP_001358236.1:p.Tyr34His, XP_047276561.1:p.Tyr34His, NP_001358241.1:p.Tyr34His, NP_001358242.1:p.Tyr34His, XP_047276559.1:p.Tyr34His, NP_001358240.1:p.Tyr34His, NP_001358244.1:p.Tyr34His, NP_001358237.1:p.Tyr34His, NP_001358245.1:p.Tyr34His, NP_001358239.1:p.Tyr34His, NP_001358243.1:p.Tyr34His, NP_001358238.1:p.Tyr34His

                        12.

                        rs1387395621 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          T>- [Show Flanks]
                          Chromosome:
                          7:43645252 (GRCh38)
                          7:43684851 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:43645251:TT:T
                          Gene:
                          COA1 (Varview)
                          Functional Consequence:
                          frameshift_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TT=0.000071/1 (ALFA)
                          -=0.000007/1 (GnomAD)
                          -=0.000015/4 (TOPMED)
                          HGVS:
                          NC_000007.14:g.43645253del, NC_000007.13:g.43684852del, NM_018224.4:c.263del, NM_018224.3:c.263del, NR_146941.2:n.511del, NR_146941.1:n.529del, NR_135583.2:n.396del, NR_135583.1:n.414del, NR_047701.2:n.461del, NR_135580.2:n.497del, NR_135580.1:n.515del, NR_135581.2:n.497del, NR_135581.1:n.515del, NR_146944.2:n.461del, NR_146944.1:n.479del, NR_135582.2:n.396del, NR_135582.1:n.414del, NR_146943.2:n.389del, NR_146943.1:n.407del, NR_146942.2:n.461del, NR_146942.1:n.479del, NR_146945.2:n.396del, NR_146945.1:n.414del, NM_001350927.2:c.263del, NM_001350927.1:c.263del, NM_001321197.2:c.263del, NM_001321197.1:c.263del, NM_001350924.2:c.263del, NM_001350924.1:c.263del, NM_001350926.2:c.263del, NM_001350926.1:c.263del, NM_001321200.2:c.263del, NM_001321200.1:c.263del, NM_001321198.2:c.263del, NM_001321198.1:c.263del, NM_001321199.2:c.263del, NM_001321199.1:c.263del, NM_001350925.2:c.263del, NM_001350925.1:c.263del, NM_001350928.2:c.245del, NM_001350928.1:c.245del, NM_001321201.2:c.227del, NM_001321201.1:c.227del, XR_007060089.1:n.1670del, XR_007060092.1:n.737del, XR_007060090.1:n.618del, XR_007060088.1:n.616del, XR_007060099.1:n.586del, XR_007060095.1:n.517del, XR_007060087.1:n.497del, XR_007060091.1:n.467del, XR_007060094.1:n.426del, XR_007060101.1:n.420del, XR_007060076.1:n.396del, XR_007060096.1:n.616del, XR_007060097.1:n.497del, XR_007060106.1:n.1670del, XR_007060103.1:n.446del, XR_007060077.1:n.396del, XR_007060104.1:n.366del, XR_007060108.1:n.791del, XR_007060100.1:n.616del, XR_007060113.1:n.642del, XR_007060105.1:n.497del, XR_007060107.1:n.618del, XR_007060098.1:n.616del, XR_007060115.1:n.601del, XR_007060081.1:n.396del, XR_007060109.1:n.517del, XR_007060093.1:n.497del, XR_007060110.1:n.467del, XR_007060079.1:n.396del, XR_007060086.1:n.396del, NR_163916.1:n.461del, NR_163917.1:n.461del, NR_163918.1:n.446del, NR_163914.1:n.461del, XR_007060080.1:n.396del, XR_007060078.1:n.396del, NR_047701.1:n.479del, XR_007060083.1:n.396del, XR_007060082.1:n.396del, XR_007060085.1:n.396del, XM_047420604.1:c.263del, XR_007060111.1:n.737del, XR_007060112.1:n.618del, XR_007060102.1:n.616del, XR_007060114.1:n.467del, XR_007060084.1:n.396del, NM_001371307.1:c.263del, XM_047420605.1:c.263del, NM_001371312.1:c.263del, NM_001371313.1:c.263del, XM_047420603.1:c.263del, NM_001371311.1:c.263del, NM_001371315.1:c.263del, NM_001371308.1:c.263del, NM_001371316.1:c.263del, NM_001371310.1:c.263del, NM_001371314.1:c.263del, NR_163919.1:n.497del, NM_001371317.1:c.245del, NM_001371318.1:c.251del, NM_001371309.1:c.263del, NR_163915.1:n.396del, NP_060694.2:p.Lys88fs, NP_001337856.1:p.Lys88fs, NP_001308126.1:p.Lys88fs, NP_001337853.1:p.Lys88fs, NP_001337855.1:p.Lys88fs, NP_001308129.1:p.Lys88fs, NP_001308127.1:p.Lys88fs, NP_001308128.1:p.Lys88fs, NP_001337854.1:p.Lys88fs, NP_001337857.1:p.Lys82fs, NP_001308130.1:p.Lys76fs, XP_047276560.1:p.Lys88fs, NP_001358236.1:p.Lys88fs, XP_047276561.1:p.Lys88fs, NP_001358241.1:p.Lys88fs, NP_001358242.1:p.Lys88fs, XP_047276559.1:p.Lys88fs, NP_001358240.1:p.Lys88fs, NP_001358244.1:p.Lys88fs, NP_001358237.1:p.Lys88fs, NP_001358245.1:p.Lys88fs, NP_001358239.1:p.Lys88fs, NP_001358243.1:p.Lys88fs, NP_001358246.1:p.Lys82fs, NP_001358247.1:p.Lys84fs, NP_001358238.1:p.Lys88fs

                          13.

                          rs1379239098 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            7:43639596 (GRCh38)
                            7:43679195 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:43639595:C:G
                            Gene:
                            COA1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000071/1 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000007.14:g.43639596C>G, NC_000007.13:g.43679195C>G, NM_018224.4:c.427G>C, NM_018224.3:c.427G>C, NR_146941.2:n.675G>C, NR_146941.1:n.693G>C, NR_135583.2:n.560G>C, NR_135583.1:n.578G>C, NR_146940.2:n.411G>C, NR_146940.1:n.429G>C, NR_047701.2:n.625G>C, NR_135580.2:n.661G>C, NR_135580.1:n.679G>C, NR_135581.2:n.661G>C, NR_135581.1:n.679G>C, NR_146944.2:n.625G>C, NR_146944.1:n.643G>C, NR_135582.2:n.560G>C, NR_135582.1:n.578G>C, NR_146943.2:n.553G>C, NR_146943.1:n.571G>C, NR_146942.2:n.625G>C, NR_146942.1:n.643G>C, NR_146945.2:n.560G>C, NR_146945.1:n.578G>C, NM_001350927.2:c.427G>C, NM_001350927.1:c.427G>C, NM_001321197.2:c.427G>C, NM_001321197.1:c.427G>C, NM_001350924.2:c.427G>C, NM_001350924.1:c.427G>C, NM_001350926.2:c.427G>C, NM_001350926.1:c.427G>C, NM_001321200.2:c.427G>C, NM_001321200.1:c.427G>C, NM_001321198.2:c.427G>C, NM_001321198.1:c.427G>C, NM_001321199.2:c.427G>C, NM_001321199.1:c.427G>C, NM_001350925.2:c.427G>C, NM_001350925.1:c.427G>C, NM_001350928.2:c.409G>C, NM_001350928.1:c.409G>C, NM_001321201.2:c.391G>C, NM_001321201.1:c.391G>C, XR_007060089.1:n.1834G>C, XR_007060092.1:n.901G>C, XR_007060090.1:n.782G>C, XR_007060088.1:n.780G>C, XR_007060099.1:n.750G>C, XR_007060095.1:n.681G>C, XR_007060087.1:n.661G>C, XR_007060091.1:n.631G>C, XR_007060094.1:n.590G>C, XR_007060101.1:n.584G>C, XR_007060076.1:n.560G>C, XR_007060096.1:n.780G>C, XR_007060097.1:n.661G>C, XR_007060106.1:n.1834G>C, XR_007060103.1:n.610G>C, XR_007060077.1:n.560G>C, XR_007060104.1:n.530G>C, XR_007060108.1:n.955G>C, XR_007060100.1:n.780G>C, XR_007060113.1:n.806G>C, XR_007060105.1:n.661G>C, XR_007060107.1:n.782G>C, XR_007060098.1:n.780G>C, XR_007060115.1:n.765G>C, XR_007060081.1:n.560G>C, XR_007060109.1:n.681G>C, XR_007060093.1:n.661G>C, XR_007060110.1:n.631G>C, XR_007060079.1:n.560G>C, XR_007060086.1:n.560G>C, NR_163916.1:n.625G>C, NR_163917.1:n.625G>C, NR_163918.1:n.610G>C, NR_163914.1:n.625G>C, XR_007060080.1:n.560G>C, XR_007060078.1:n.560G>C, NR_047701.1:n.643G>C, XR_007060083.1:n.560G>C, XR_007060082.1:n.560G>C, XR_007060085.1:n.560G>C, XM_047420604.1:c.427G>C, XR_007060111.1:n.901G>C, XR_007060112.1:n.782G>C, XR_007060102.1:n.780G>C, XR_007060114.1:n.631G>C, XR_007060084.1:n.560G>C, NM_001371307.1:c.427G>C, XM_047420605.1:c.427G>C, NM_001371312.1:c.427G>C, NM_001371313.1:c.427G>C, XM_047420603.1:c.427G>C, NM_001371311.1:c.427G>C, NM_001371315.1:c.427G>C, NM_001371308.1:c.427G>C, NM_001371316.1:c.427G>C, NM_001371310.1:c.427G>C, NM_001371314.1:c.427G>C, NR_163919.1:n.666G>C, NM_001371317.1:c.409G>C, NM_001371318.1:c.415G>C, NM_001371309.1:c.427G>C, NR_163915.1:n.565G>C, NP_060694.2:p.Val143Leu, NP_001337856.1:p.Val143Leu, NP_001308126.1:p.Val143Leu, NP_001337853.1:p.Val143Leu, NP_001337855.1:p.Val143Leu, NP_001308129.1:p.Val143Leu, NP_001308127.1:p.Val143Leu, NP_001308128.1:p.Val143Leu, NP_001337854.1:p.Val143Leu, NP_001337857.1:p.Val137Leu, NP_001308130.1:p.Val131Leu, XP_047276560.1:p.Val143Leu, NP_001358236.1:p.Val143Leu, XP_047276561.1:p.Val143Leu, NP_001358241.1:p.Val143Leu, NP_001358242.1:p.Val143Leu, XP_047276559.1:p.Val143Leu, NP_001358240.1:p.Val143Leu, NP_001358244.1:p.Val143Leu, NP_001358237.1:p.Val143Leu, NP_001358245.1:p.Val143Leu, NP_001358239.1:p.Val143Leu, NP_001358243.1:p.Val143Leu, NP_001358246.1:p.Val137Leu, NP_001358247.1:p.Val139Leu, NP_001358238.1:p.Val143Leu

                            14.

                            rs1364018075 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              7:43645360 (GRCh38)
                              7:43684959 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:43645359:T:C
                              Gene:
                              COA1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0.000071/1 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000007.14:g.43645360T>C, NC_000007.13:g.43684959T>C, NM_018224.4:c.155A>G, NM_018224.3:c.155A>G, NR_146941.2:n.403A>G, NR_146941.1:n.421A>G, NR_135583.2:n.288A>G, NR_135583.1:n.306A>G, NR_047701.2:n.353A>G, NR_135580.2:n.389A>G, NR_135580.1:n.407A>G, NR_135581.2:n.389A>G, NR_135581.1:n.407A>G, NR_146944.2:n.353A>G, NR_146944.1:n.371A>G, NR_135582.2:n.288A>G, NR_135582.1:n.306A>G, NR_146943.2:n.281A>G, NR_146943.1:n.299A>G, NR_146942.2:n.353A>G, NR_146942.1:n.371A>G, NR_146945.2:n.288A>G, NR_146945.1:n.306A>G, NM_001350927.2:c.155A>G, NM_001350927.1:c.155A>G, NM_001321197.2:c.155A>G, NM_001321197.1:c.155A>G, NM_001350924.2:c.155A>G, NM_001350924.1:c.155A>G, NM_001350926.2:c.155A>G, NM_001350926.1:c.155A>G, NM_001321200.2:c.155A>G, NM_001321200.1:c.155A>G, NM_001321198.2:c.155A>G, NM_001321198.1:c.155A>G, NM_001321199.2:c.155A>G, NM_001321199.1:c.155A>G, NM_001350925.2:c.155A>G, NM_001350925.1:c.155A>G, NM_001350928.2:c.137A>G, NM_001350928.1:c.137A>G, NM_001321201.2:c.119A>G, NM_001321201.1:c.119A>G, XR_007060089.1:n.1562A>G, XR_007060092.1:n.629A>G, XR_007060090.1:n.510A>G, XR_007060088.1:n.508A>G, XR_007060099.1:n.478A>G, XR_007060095.1:n.409A>G, XR_007060087.1:n.389A>G, XR_007060091.1:n.359A>G, XR_007060094.1:n.318A>G, XR_007060101.1:n.312A>G, XR_007060076.1:n.288A>G, XR_007060096.1:n.508A>G, XR_007060097.1:n.389A>G, XR_007060106.1:n.1562A>G, XR_007060103.1:n.338A>G, XR_007060077.1:n.288A>G, XR_007060104.1:n.258A>G, XR_007060108.1:n.683A>G, XR_007060100.1:n.508A>G, XR_007060113.1:n.534A>G, XR_007060105.1:n.389A>G, XR_007060107.1:n.510A>G, XR_007060098.1:n.508A>G, XR_007060115.1:n.493A>G, XR_007060081.1:n.288A>G, XR_007060109.1:n.409A>G, XR_007060093.1:n.389A>G, XR_007060110.1:n.359A>G, XR_007060079.1:n.288A>G, XR_007060086.1:n.288A>G, NR_163916.1:n.353A>G, NR_163917.1:n.353A>G, NR_163918.1:n.338A>G, NR_163914.1:n.353A>G, XR_007060080.1:n.288A>G, XR_007060078.1:n.288A>G, NR_047701.1:n.371A>G, XR_007060083.1:n.288A>G, XR_007060082.1:n.288A>G, XR_007060085.1:n.288A>G, XM_047420604.1:c.155A>G, XR_007060111.1:n.629A>G, XR_007060112.1:n.510A>G, XR_007060102.1:n.508A>G, XR_007060114.1:n.359A>G, XR_007060084.1:n.288A>G, NM_001371307.1:c.155A>G, XM_047420605.1:c.155A>G, NM_001371312.1:c.155A>G, NM_001371313.1:c.155A>G, XM_047420603.1:c.155A>G, NM_001371311.1:c.155A>G, NM_001371315.1:c.155A>G, NM_001371308.1:c.155A>G, NM_001371316.1:c.155A>G, NM_001371310.1:c.155A>G, NM_001371314.1:c.155A>G, NR_163919.1:n.389A>G, NM_001371317.1:c.137A>G, NM_001371318.1:c.143A>G, NM_001371309.1:c.155A>G, NR_163915.1:n.288A>G, NP_060694.2:p.Glu52Gly, NP_001337856.1:p.Glu52Gly, NP_001308126.1:p.Glu52Gly, NP_001337853.1:p.Glu52Gly, NP_001337855.1:p.Glu52Gly, NP_001308129.1:p.Glu52Gly, NP_001308127.1:p.Glu52Gly, NP_001308128.1:p.Glu52Gly, NP_001337854.1:p.Glu52Gly, NP_001337857.1:p.Glu46Gly, NP_001308130.1:p.Glu40Gly, XP_047276560.1:p.Glu52Gly, NP_001358236.1:p.Glu52Gly, XP_047276561.1:p.Glu52Gly, NP_001358241.1:p.Glu52Gly, NP_001358242.1:p.Glu52Gly, XP_047276559.1:p.Glu52Gly, NP_001358240.1:p.Glu52Gly, NP_001358244.1:p.Glu52Gly, NP_001358237.1:p.Glu52Gly, NP_001358245.1:p.Glu52Gly, NP_001358239.1:p.Glu52Gly, NP_001358243.1:p.Glu52Gly, NP_001358246.1:p.Glu46Gly, NP_001358247.1:p.Glu48Gly, NP_001358238.1:p.Glu52Gly

                              15.

                              rs1354453942 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                7:43640641 (GRCh38)
                                7:43680240 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:43640640:A:T
                                Gene:
                                COA1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                HGVS:
                                NC_000007.14:g.43640641A>T, NC_000007.13:g.43680240A>T, NM_018224.4:c.273T>A, NM_018224.3:c.273T>A, NR_146941.2:n.521T>A, NR_146941.1:n.539T>A, NR_135583.2:n.406T>A, NR_135583.1:n.424T>A, NR_146940.2:n.257T>A, NR_146940.1:n.275T>A, NR_047701.2:n.471T>A, NR_135580.2:n.507T>A, NR_135580.1:n.525T>A, NR_135581.2:n.507T>A, NR_135581.1:n.525T>A, NR_146944.2:n.471T>A, NR_146944.1:n.489T>A, NR_135582.2:n.406T>A, NR_135582.1:n.424T>A, NR_146943.2:n.399T>A, NR_146943.1:n.417T>A, NR_146942.2:n.471T>A, NR_146942.1:n.489T>A, NR_146945.2:n.406T>A, NR_146945.1:n.424T>A, NM_001350927.2:c.273T>A, NM_001350927.1:c.273T>A, NM_001321197.2:c.273T>A, NM_001321197.1:c.273T>A, NM_001350924.2:c.273T>A, NM_001350924.1:c.273T>A, NM_001350926.2:c.273T>A, NM_001350926.1:c.273T>A, NM_001321200.2:c.273T>A, NM_001321200.1:c.273T>A, NM_001321198.2:c.273T>A, NM_001321198.1:c.273T>A, NM_001321199.2:c.273T>A, NM_001321199.1:c.273T>A, NM_001350925.2:c.273T>A, NM_001350925.1:c.273T>A, NM_001350928.2:c.255T>A, NM_001350928.1:c.255T>A, NM_001321201.2:c.237T>A, NM_001321201.1:c.237T>A, XR_007060089.1:n.1680T>A, XR_007060092.1:n.747T>A, XR_007060090.1:n.628T>A, XR_007060088.1:n.626T>A, XR_007060099.1:n.596T>A, XR_007060095.1:n.527T>A, XR_007060087.1:n.507T>A, XR_007060091.1:n.477T>A, XR_007060094.1:n.436T>A, XR_007060101.1:n.430T>A, XR_007060076.1:n.406T>A, XR_007060096.1:n.626T>A, XR_007060097.1:n.507T>A, XR_007060106.1:n.1680T>A, XR_007060103.1:n.456T>A, XR_007060077.1:n.406T>A, XR_007060104.1:n.376T>A, XR_007060108.1:n.801T>A, XR_007060100.1:n.626T>A, XR_007060113.1:n.652T>A, XR_007060105.1:n.507T>A, XR_007060107.1:n.628T>A, XR_007060098.1:n.626T>A, XR_007060115.1:n.611T>A, XR_007060081.1:n.406T>A, XR_007060109.1:n.527T>A, XR_007060093.1:n.507T>A, XR_007060110.1:n.477T>A, XR_007060079.1:n.406T>A, XR_007060086.1:n.406T>A, NR_163916.1:n.471T>A, NR_163917.1:n.471T>A, NR_163918.1:n.456T>A, NR_163914.1:n.471T>A, XR_007060080.1:n.406T>A, XR_007060078.1:n.406T>A, NR_047701.1:n.489T>A, XR_007060083.1:n.406T>A, XR_007060082.1:n.406T>A, XR_007060085.1:n.406T>A, XM_047420604.1:c.273T>A, XR_007060111.1:n.747T>A, XR_007060112.1:n.628T>A, XR_007060102.1:n.626T>A, XR_007060114.1:n.477T>A, XR_007060084.1:n.406T>A, NM_001371307.1:c.273T>A, XM_047420605.1:c.273T>A, NM_001371312.1:c.273T>A, NM_001371313.1:c.273T>A, XM_047420603.1:c.273T>A, NM_001371311.1:c.273T>A, NM_001371315.1:c.273T>A, NM_001371308.1:c.273T>A, NM_001371316.1:c.273T>A, NM_001371310.1:c.273T>A, NM_001371314.1:c.273T>A, NR_163919.1:n.512T>A, NM_001371317.1:c.255T>A, NM_001371318.1:c.261T>A, NM_001371309.1:c.273T>A, NR_163915.1:n.411T>A

                                16.

                                rs1351691380 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  7:43645395 (GRCh38)
                                  7:43684994 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:43645394:A:G
                                  Gene:
                                  COA1 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000007.14:g.43645395A>G, NC_000007.13:g.43684994A>G, NM_018224.4:c.120T>C, NM_018224.3:c.120T>C, NR_146941.2:n.368T>C, NR_146941.1:n.386T>C, NR_135583.2:n.253T>C, NR_135583.1:n.271T>C, NR_047701.2:n.318T>C, NR_135580.2:n.354T>C, NR_135580.1:n.372T>C, NR_135581.2:n.354T>C, NR_135581.1:n.372T>C, NR_146944.2:n.318T>C, NR_146944.1:n.336T>C, NR_135582.2:n.253T>C, NR_135582.1:n.271T>C, NR_146943.2:n.246T>C, NR_146943.1:n.264T>C, NR_146942.2:n.318T>C, NR_146942.1:n.336T>C, NR_146945.2:n.253T>C, NR_146945.1:n.271T>C, NM_001350927.2:c.120T>C, NM_001350927.1:c.120T>C, NM_001321197.2:c.120T>C, NM_001321197.1:c.120T>C, NM_001350924.2:c.120T>C, NM_001350924.1:c.120T>C, NM_001350926.2:c.120T>C, NM_001350926.1:c.120T>C, NM_001321200.2:c.120T>C, NM_001321200.1:c.120T>C, NM_001321198.2:c.120T>C, NM_001321198.1:c.120T>C, NM_001321199.2:c.120T>C, NM_001321199.1:c.120T>C, NM_001350925.2:c.120T>C, NM_001350925.1:c.120T>C, NM_001350928.2:c.102T>C, NM_001350928.1:c.102T>C, NM_001321201.2:c.84T>C, NM_001321201.1:c.84T>C, XR_007060089.1:n.1527T>C, XR_007060092.1:n.594T>C, XR_007060090.1:n.475T>C, XR_007060088.1:n.473T>C, XR_007060099.1:n.443T>C, XR_007060095.1:n.374T>C, XR_007060087.1:n.354T>C, XR_007060091.1:n.324T>C, XR_007060094.1:n.283T>C, XR_007060101.1:n.277T>C, XR_007060076.1:n.253T>C, XR_007060096.1:n.473T>C, XR_007060097.1:n.354T>C, XR_007060106.1:n.1527T>C, XR_007060103.1:n.303T>C, XR_007060077.1:n.253T>C, XR_007060104.1:n.223T>C, XR_007060108.1:n.648T>C, XR_007060100.1:n.473T>C, XR_007060113.1:n.499T>C, XR_007060105.1:n.354T>C, XR_007060107.1:n.475T>C, XR_007060098.1:n.473T>C, XR_007060115.1:n.458T>C, XR_007060081.1:n.253T>C, XR_007060109.1:n.374T>C, XR_007060093.1:n.354T>C, XR_007060110.1:n.324T>C, XR_007060079.1:n.253T>C, XR_007060086.1:n.253T>C, NR_163916.1:n.318T>C, NR_163917.1:n.318T>C, NR_163918.1:n.303T>C, NR_163914.1:n.318T>C, XR_007060080.1:n.253T>C, XR_007060078.1:n.253T>C, NR_047701.1:n.336T>C, XR_007060083.1:n.253T>C, XR_007060082.1:n.253T>C, XR_007060085.1:n.253T>C, XM_047420604.1:c.120T>C, XR_007060111.1:n.594T>C, XR_007060112.1:n.475T>C, XR_007060102.1:n.473T>C, XR_007060114.1:n.324T>C, XR_007060084.1:n.253T>C, NM_001371307.1:c.120T>C, XM_047420605.1:c.120T>C, NM_001371312.1:c.120T>C, NM_001371313.1:c.120T>C, XM_047420603.1:c.120T>C, NM_001371311.1:c.120T>C, NM_001371315.1:c.120T>C, NM_001371308.1:c.120T>C, NM_001371316.1:c.120T>C, NM_001371310.1:c.120T>C, NM_001371314.1:c.120T>C, NR_163919.1:n.354T>C, NM_001371317.1:c.102T>C, NM_001371318.1:c.108T>C, NM_001371309.1:c.120T>C, NR_163915.1:n.253T>C

                                  17.

                                  rs1336920200 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    7:43645379 (GRCh38)
                                    7:43684978 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:43645378:A:G
                                    Gene:
                                    COA1 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    G=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000007.14:g.43645379A>G, NC_000007.13:g.43684978A>G, NM_018224.4:c.136T>C, NM_018224.3:c.136T>C, NR_146941.2:n.384T>C, NR_146941.1:n.402T>C, NR_135583.2:n.269T>C, NR_135583.1:n.287T>C, NR_047701.2:n.334T>C, NR_135580.2:n.370T>C, NR_135580.1:n.388T>C, NR_135581.2:n.370T>C, NR_135581.1:n.388T>C, NR_146944.2:n.334T>C, NR_146944.1:n.352T>C, NR_135582.2:n.269T>C, NR_135582.1:n.287T>C, NR_146943.2:n.262T>C, NR_146943.1:n.280T>C, NR_146942.2:n.334T>C, NR_146942.1:n.352T>C, NR_146945.2:n.269T>C, NR_146945.1:n.287T>C, NM_001350927.2:c.136T>C, NM_001350927.1:c.136T>C, NM_001321197.2:c.136T>C, NM_001321197.1:c.136T>C, NM_001350924.2:c.136T>C, NM_001350924.1:c.136T>C, NM_001350926.2:c.136T>C, NM_001350926.1:c.136T>C, NM_001321200.2:c.136T>C, NM_001321200.1:c.136T>C, NM_001321198.2:c.136T>C, NM_001321198.1:c.136T>C, NM_001321199.2:c.136T>C, NM_001321199.1:c.136T>C, NM_001350925.2:c.136T>C, NM_001350925.1:c.136T>C, NM_001350928.2:c.118T>C, NM_001350928.1:c.118T>C, NM_001321201.2:c.100T>C, NM_001321201.1:c.100T>C, XR_007060089.1:n.1543T>C, XR_007060092.1:n.610T>C, XR_007060090.1:n.491T>C, XR_007060088.1:n.489T>C, XR_007060099.1:n.459T>C, XR_007060095.1:n.390T>C, XR_007060087.1:n.370T>C, XR_007060091.1:n.340T>C, XR_007060094.1:n.299T>C, XR_007060101.1:n.293T>C, XR_007060076.1:n.269T>C, XR_007060096.1:n.489T>C, XR_007060097.1:n.370T>C, XR_007060106.1:n.1543T>C, XR_007060103.1:n.319T>C, XR_007060077.1:n.269T>C, XR_007060104.1:n.239T>C, XR_007060108.1:n.664T>C, XR_007060100.1:n.489T>C, XR_007060113.1:n.515T>C, XR_007060105.1:n.370T>C, XR_007060107.1:n.491T>C, XR_007060098.1:n.489T>C, XR_007060115.1:n.474T>C, XR_007060081.1:n.269T>C, XR_007060109.1:n.390T>C, XR_007060093.1:n.370T>C, XR_007060110.1:n.340T>C, XR_007060079.1:n.269T>C, XR_007060086.1:n.269T>C, NR_163916.1:n.334T>C, NR_163917.1:n.334T>C, NR_163918.1:n.319T>C, NR_163914.1:n.334T>C, XR_007060080.1:n.269T>C, XR_007060078.1:n.269T>C, NR_047701.1:n.352T>C, XR_007060083.1:n.269T>C, XR_007060082.1:n.269T>C, XR_007060085.1:n.269T>C, XM_047420604.1:c.136T>C, XR_007060111.1:n.610T>C, XR_007060112.1:n.491T>C, XR_007060102.1:n.489T>C, XR_007060114.1:n.340T>C, XR_007060084.1:n.269T>C, NM_001371307.1:c.136T>C, XM_047420605.1:c.136T>C, NM_001371312.1:c.136T>C, NM_001371313.1:c.136T>C, XM_047420603.1:c.136T>C, NM_001371311.1:c.136T>C, NM_001371315.1:c.136T>C, NM_001371308.1:c.136T>C, NM_001371316.1:c.136T>C, NM_001371310.1:c.136T>C, NM_001371314.1:c.136T>C, NR_163919.1:n.370T>C, NM_001371317.1:c.118T>C, NM_001371318.1:c.124T>C, NM_001371309.1:c.136T>C, NR_163915.1:n.269T>C, NP_060694.2:p.Tyr46His, NP_001337856.1:p.Tyr46His, NP_001308126.1:p.Tyr46His, NP_001337853.1:p.Tyr46His, NP_001337855.1:p.Tyr46His, NP_001308129.1:p.Tyr46His, NP_001308127.1:p.Tyr46His, NP_001308128.1:p.Tyr46His, NP_001337854.1:p.Tyr46His, NP_001337857.1:p.Tyr40His, NP_001308130.1:p.Tyr34His, XP_047276560.1:p.Tyr46His, NP_001358236.1:p.Tyr46His, XP_047276561.1:p.Tyr46His, NP_001358241.1:p.Tyr46His, NP_001358242.1:p.Tyr46His, XP_047276559.1:p.Tyr46His, NP_001358240.1:p.Tyr46His, NP_001358244.1:p.Tyr46His, NP_001358237.1:p.Tyr46His, NP_001358245.1:p.Tyr46His, NP_001358239.1:p.Tyr46His, NP_001358243.1:p.Tyr46His, NP_001358246.1:p.Tyr40His, NP_001358247.1:p.Tyr42His, NP_001358238.1:p.Tyr46His

                                    18.

                                    rs1334015868 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      7:43645256 (GRCh38)
                                      7:43684855 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:43645255:C:T
                                      Gene:
                                      COA1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000007.14:g.43645256C>T, NC_000007.13:g.43684855C>T, NM_018224.4:c.259G>A, NM_018224.3:c.259G>A, NR_146941.2:n.507G>A, NR_146941.1:n.525G>A, NR_135583.2:n.392G>A, NR_135583.1:n.410G>A, NR_047701.2:n.457G>A, NR_135580.2:n.493G>A, NR_135580.1:n.511G>A, NR_135581.2:n.493G>A, NR_135581.1:n.511G>A, NR_146944.2:n.457G>A, NR_146944.1:n.475G>A, NR_135582.2:n.392G>A, NR_135582.1:n.410G>A, NR_146943.2:n.385G>A, NR_146943.1:n.403G>A, NR_146942.2:n.457G>A, NR_146942.1:n.475G>A, NR_146945.2:n.392G>A, NR_146945.1:n.410G>A, NM_001350927.2:c.259G>A, NM_001350927.1:c.259G>A, NM_001321197.2:c.259G>A, NM_001321197.1:c.259G>A, NM_001350924.2:c.259G>A, NM_001350924.1:c.259G>A, NM_001350926.2:c.259G>A, NM_001350926.1:c.259G>A, NM_001321200.2:c.259G>A, NM_001321200.1:c.259G>A, NM_001321198.2:c.259G>A, NM_001321198.1:c.259G>A, NM_001321199.2:c.259G>A, NM_001321199.1:c.259G>A, NM_001350925.2:c.259G>A, NM_001350925.1:c.259G>A, NM_001350928.2:c.241G>A, NM_001350928.1:c.241G>A, NM_001321201.2:c.223G>A, NM_001321201.1:c.223G>A, XR_007060089.1:n.1666G>A, XR_007060092.1:n.733G>A, XR_007060090.1:n.614G>A, XR_007060088.1:n.612G>A, XR_007060099.1:n.582G>A, XR_007060095.1:n.513G>A, XR_007060087.1:n.493G>A, XR_007060091.1:n.463G>A, XR_007060094.1:n.422G>A, XR_007060101.1:n.416G>A, XR_007060076.1:n.392G>A, XR_007060096.1:n.612G>A, XR_007060097.1:n.493G>A, XR_007060106.1:n.1666G>A, XR_007060103.1:n.442G>A, XR_007060077.1:n.392G>A, XR_007060104.1:n.362G>A, XR_007060108.1:n.787G>A, XR_007060100.1:n.612G>A, XR_007060113.1:n.638G>A, XR_007060105.1:n.493G>A, XR_007060107.1:n.614G>A, XR_007060098.1:n.612G>A, XR_007060115.1:n.597G>A, XR_007060081.1:n.392G>A, XR_007060109.1:n.513G>A, XR_007060093.1:n.493G>A, XR_007060110.1:n.463G>A, XR_007060079.1:n.392G>A, XR_007060086.1:n.392G>A, NR_163916.1:n.457G>A, NR_163917.1:n.457G>A, NR_163918.1:n.442G>A, NR_163914.1:n.457G>A, XR_007060080.1:n.392G>A, XR_007060078.1:n.392G>A, NR_047701.1:n.475G>A, XR_007060083.1:n.392G>A, XR_007060082.1:n.392G>A, XR_007060085.1:n.392G>A, XM_047420604.1:c.259G>A, XR_007060111.1:n.733G>A, XR_007060112.1:n.614G>A, XR_007060102.1:n.612G>A, XR_007060114.1:n.463G>A, XR_007060084.1:n.392G>A, NM_001371307.1:c.259G>A, XM_047420605.1:c.259G>A, NM_001371312.1:c.259G>A, NM_001371313.1:c.259G>A, XM_047420603.1:c.259G>A, NM_001371311.1:c.259G>A, NM_001371315.1:c.259G>A, NM_001371308.1:c.259G>A, NM_001371316.1:c.259G>A, NM_001371310.1:c.259G>A, NM_001371314.1:c.259G>A, NR_163919.1:n.493G>A, NM_001371317.1:c.241G>A, NM_001371318.1:c.247G>A, NM_001371309.1:c.259G>A, NR_163915.1:n.392G>A, NP_060694.2:p.Ala87Thr, NP_001337856.1:p.Ala87Thr, NP_001308126.1:p.Ala87Thr, NP_001337853.1:p.Ala87Thr, NP_001337855.1:p.Ala87Thr, NP_001308129.1:p.Ala87Thr, NP_001308127.1:p.Ala87Thr, NP_001308128.1:p.Ala87Thr, NP_001337854.1:p.Ala87Thr, NP_001337857.1:p.Ala81Thr, NP_001308130.1:p.Ala75Thr, XP_047276560.1:p.Ala87Thr, NP_001358236.1:p.Ala87Thr, XP_047276561.1:p.Ala87Thr, NP_001358241.1:p.Ala87Thr, NP_001358242.1:p.Ala87Thr, XP_047276559.1:p.Ala87Thr, NP_001358240.1:p.Ala87Thr, NP_001358244.1:p.Ala87Thr, NP_001358237.1:p.Ala87Thr, NP_001358245.1:p.Ala87Thr, NP_001358239.1:p.Ala87Thr, NP_001358243.1:p.Ala87Thr, NP_001358246.1:p.Ala81Thr, NP_001358247.1:p.Ala83Thr, NP_001358238.1:p.Ala87Thr

                                      19.

                                      rs1327512703 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        7:43645334 (GRCh38)
                                        7:43684933 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:43645333:G:C
                                        Gene:
                                        COA1 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000007.14:g.43645334G>C, NC_000007.13:g.43684933G>C, NM_018224.4:c.181C>G, NM_018224.3:c.181C>G, NR_146941.2:n.429C>G, NR_146941.1:n.447C>G, NR_135583.2:n.314C>G, NR_135583.1:n.332C>G, NR_047701.2:n.379C>G, NR_135580.2:n.415C>G, NR_135580.1:n.433C>G, NR_135581.2:n.415C>G, NR_135581.1:n.433C>G, NR_146944.2:n.379C>G, NR_146944.1:n.397C>G, NR_135582.2:n.314C>G, NR_135582.1:n.332C>G, NR_146943.2:n.307C>G, NR_146943.1:n.325C>G, NR_146942.2:n.379C>G, NR_146942.1:n.397C>G, NR_146945.2:n.314C>G, NR_146945.1:n.332C>G, NM_001350927.2:c.181C>G, NM_001350927.1:c.181C>G, NM_001321197.2:c.181C>G, NM_001321197.1:c.181C>G, NM_001350924.2:c.181C>G, NM_001350924.1:c.181C>G, NM_001350926.2:c.181C>G, NM_001350926.1:c.181C>G, NM_001321200.2:c.181C>G, NM_001321200.1:c.181C>G, NM_001321198.2:c.181C>G, NM_001321198.1:c.181C>G, NM_001321199.2:c.181C>G, NM_001321199.1:c.181C>G, NM_001350925.2:c.181C>G, NM_001350925.1:c.181C>G, NM_001350928.2:c.163C>G, NM_001350928.1:c.163C>G, NM_001321201.2:c.145C>G, NM_001321201.1:c.145C>G, XR_007060089.1:n.1588C>G, XR_007060092.1:n.655C>G, XR_007060090.1:n.536C>G, XR_007060088.1:n.534C>G, XR_007060099.1:n.504C>G, XR_007060095.1:n.435C>G, XR_007060087.1:n.415C>G, XR_007060091.1:n.385C>G, XR_007060094.1:n.344C>G, XR_007060101.1:n.338C>G, XR_007060076.1:n.314C>G, XR_007060096.1:n.534C>G, XR_007060097.1:n.415C>G, XR_007060106.1:n.1588C>G, XR_007060103.1:n.364C>G, XR_007060077.1:n.314C>G, XR_007060104.1:n.284C>G, XR_007060108.1:n.709C>G, XR_007060100.1:n.534C>G, XR_007060113.1:n.560C>G, XR_007060105.1:n.415C>G, XR_007060107.1:n.536C>G, XR_007060098.1:n.534C>G, XR_007060115.1:n.519C>G, XR_007060081.1:n.314C>G, XR_007060109.1:n.435C>G, XR_007060093.1:n.415C>G, XR_007060110.1:n.385C>G, XR_007060079.1:n.314C>G, XR_007060086.1:n.314C>G, NR_163916.1:n.379C>G, NR_163917.1:n.379C>G, NR_163918.1:n.364C>G, NR_163914.1:n.379C>G, XR_007060080.1:n.314C>G, XR_007060078.1:n.314C>G, NR_047701.1:n.397C>G, XR_007060083.1:n.314C>G, XR_007060082.1:n.314C>G, XR_007060085.1:n.314C>G, XM_047420604.1:c.181C>G, XR_007060111.1:n.655C>G, XR_007060112.1:n.536C>G, XR_007060102.1:n.534C>G, XR_007060114.1:n.385C>G, XR_007060084.1:n.314C>G, NM_001371307.1:c.181C>G, XM_047420605.1:c.181C>G, NM_001371312.1:c.181C>G, NM_001371313.1:c.181C>G, XM_047420603.1:c.181C>G, NM_001371311.1:c.181C>G, NM_001371315.1:c.181C>G, NM_001371308.1:c.181C>G, NM_001371316.1:c.181C>G, NM_001371310.1:c.181C>G, NM_001371314.1:c.181C>G, NR_163919.1:n.415C>G, NM_001371317.1:c.163C>G, NM_001371318.1:c.169C>G, NM_001371309.1:c.181C>G, NR_163915.1:n.314C>G, NP_060694.2:p.Gln61Glu, NP_001337856.1:p.Gln61Glu, NP_001308126.1:p.Gln61Glu, NP_001337853.1:p.Gln61Glu, NP_001337855.1:p.Gln61Glu, NP_001308129.1:p.Gln61Glu, NP_001308127.1:p.Gln61Glu, NP_001308128.1:p.Gln61Glu, NP_001337854.1:p.Gln61Glu, NP_001337857.1:p.Gln55Glu, NP_001308130.1:p.Gln49Glu, XP_047276560.1:p.Gln61Glu, NP_001358236.1:p.Gln61Glu, XP_047276561.1:p.Gln61Glu, NP_001358241.1:p.Gln61Glu, NP_001358242.1:p.Gln61Glu, XP_047276559.1:p.Gln61Glu, NP_001358240.1:p.Gln61Glu, NP_001358244.1:p.Gln61Glu, NP_001358237.1:p.Gln61Glu, NP_001358245.1:p.Gln61Glu, NP_001358239.1:p.Gln61Glu, NP_001358243.1:p.Gln61Glu, NP_001358246.1:p.Gln55Glu, NP_001358247.1:p.Gln57Glu, NP_001358238.1:p.Gln61Glu

                                        20.

                                        rs1325298740 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          7:43639662 (GRCh38)
                                          7:43679261 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:43639661:A:C
                                          Gene:
                                          COA1 (Varview)
                                          Functional Consequence:
                                          missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (GnomAD_exomes)
                                          C=0.000008/2 (TOPMED)
                                          C=0.000029/4 (GnomAD)
                                          HGVS:
                                          NC_000007.14:g.43639662A>C, NC_000007.13:g.43679261A>C, NM_018224.4:c.361T>G, NM_018224.3:c.361T>G, NR_146941.2:n.609T>G, NR_146941.1:n.627T>G, NR_135583.2:n.494T>G, NR_135583.1:n.512T>G, NR_146940.2:n.345T>G, NR_146940.1:n.363T>G, NR_047701.2:n.559T>G, NR_135580.2:n.595T>G, NR_135580.1:n.613T>G, NR_135581.2:n.595T>G, NR_135581.1:n.613T>G, NR_146944.2:n.559T>G, NR_146944.1:n.577T>G, NR_135582.2:n.494T>G, NR_135582.1:n.512T>G, NR_146943.2:n.487T>G, NR_146943.1:n.505T>G, NR_146942.2:n.559T>G, NR_146942.1:n.577T>G, NR_146945.2:n.494T>G, NR_146945.1:n.512T>G, NM_001350927.2:c.361T>G, NM_001350927.1:c.361T>G, NM_001321197.2:c.361T>G, NM_001321197.1:c.361T>G, NM_001350924.2:c.361T>G, NM_001350924.1:c.361T>G, NM_001350926.2:c.361T>G, NM_001350926.1:c.361T>G, NM_001321200.2:c.361T>G, NM_001321200.1:c.361T>G, NM_001321198.2:c.361T>G, NM_001321198.1:c.361T>G, NM_001321199.2:c.361T>G, NM_001321199.1:c.361T>G, NM_001350925.2:c.361T>G, NM_001350925.1:c.361T>G, NM_001350928.2:c.343T>G, NM_001350928.1:c.343T>G, NM_001321201.2:c.325T>G, NM_001321201.1:c.325T>G, XR_007060089.1:n.1768T>G, XR_007060092.1:n.835T>G, XR_007060090.1:n.716T>G, XR_007060088.1:n.714T>G, XR_007060099.1:n.684T>G, XR_007060095.1:n.615T>G, XR_007060087.1:n.595T>G, XR_007060091.1:n.565T>G, XR_007060094.1:n.524T>G, XR_007060101.1:n.518T>G, XR_007060076.1:n.494T>G, XR_007060096.1:n.714T>G, XR_007060097.1:n.595T>G, XR_007060106.1:n.1768T>G, XR_007060103.1:n.544T>G, XR_007060077.1:n.494T>G, XR_007060104.1:n.464T>G, XR_007060108.1:n.889T>G, XR_007060100.1:n.714T>G, XR_007060113.1:n.740T>G, XR_007060105.1:n.595T>G, XR_007060107.1:n.716T>G, XR_007060098.1:n.714T>G, XR_007060115.1:n.699T>G, XR_007060081.1:n.494T>G, XR_007060109.1:n.615T>G, XR_007060093.1:n.595T>G, XR_007060110.1:n.565T>G, XR_007060079.1:n.494T>G, XR_007060086.1:n.494T>G, NR_163916.1:n.559T>G, NR_163917.1:n.559T>G, NR_163918.1:n.544T>G, NR_163914.1:n.559T>G, XR_007060080.1:n.494T>G, XR_007060078.1:n.494T>G, NR_047701.1:n.577T>G, XR_007060083.1:n.494T>G, XR_007060082.1:n.494T>G, XR_007060085.1:n.494T>G, XM_047420604.1:c.361T>G, XR_007060111.1:n.835T>G, XR_007060112.1:n.716T>G, XR_007060102.1:n.714T>G, XR_007060114.1:n.565T>G, XR_007060084.1:n.494T>G, NM_001371307.1:c.361T>G, XM_047420605.1:c.361T>G, NM_001371312.1:c.361T>G, NM_001371313.1:c.361T>G, XM_047420603.1:c.361T>G, NM_001371311.1:c.361T>G, NM_001371315.1:c.361T>G, NM_001371308.1:c.361T>G, NM_001371316.1:c.361T>G, NM_001371310.1:c.361T>G, NM_001371314.1:c.361T>G, NR_163919.1:n.600T>G, NM_001371317.1:c.343T>G, NM_001371318.1:c.349T>G, NM_001371309.1:c.361T>G, NR_163915.1:n.499T>G, NP_060694.2:p.Phe121Val, NP_001337856.1:p.Phe121Val, NP_001308126.1:p.Phe121Val, NP_001337853.1:p.Phe121Val, NP_001337855.1:p.Phe121Val, NP_001308129.1:p.Phe121Val, NP_001308127.1:p.Phe121Val, NP_001308128.1:p.Phe121Val, NP_001337854.1:p.Phe121Val, NP_001337857.1:p.Phe115Val, NP_001308130.1:p.Phe109Val, XP_047276560.1:p.Phe121Val, NP_001358236.1:p.Phe121Val, XP_047276561.1:p.Phe121Val, NP_001358241.1:p.Phe121Val, NP_001358242.1:p.Phe121Val, XP_047276559.1:p.Phe121Val, NP_001358240.1:p.Phe121Val, NP_001358244.1:p.Phe121Val, NP_001358237.1:p.Phe121Val, NP_001358245.1:p.Phe121Val, NP_001358239.1:p.Phe121Val, NP_001358243.1:p.Phe121Val, NP_001358246.1:p.Phe115Val, NP_001358247.1:p.Phe117Val, NP_001358238.1:p.Phe121Val

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