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Items: 1 to 20 of 43

1.

rs1465938839 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G,T [Show Flanks]
    Chromosome:
    14:65006221 (GRCh38)
    14:65472939 (GRCh37)
    Canonical SPDI:
    NC_000014.9:65006220:C:A,NC_000014.9:65006220:C:G,NC_000014.9:65006220:C:T
    Gene:
    FNTB (Varview), MAX (Varview), CHURC1-FNTB (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000008/1 (GnomAD)
    HGVS:

    2.

    rs1452428468 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C,G [Show Flanks]
      Chromosome:
      14:65093774 (GRCh38)
      14:65560492 (GRCh37)
      Canonical SPDI:
      NC_000014.9:65093773:A:C,NC_000014.9:65093773:A:G
      Gene:
      MAX (Varview), LOC100506321 (Varview)
      Functional Consequence:
      5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000014.9:g.65093774A>C, NC_000014.9:g.65093774A>G, NC_000014.8:g.65560492A>C, NC_000014.8:g.65560492A>G, NG_029830.1:g.13736T>G, NG_029830.1:g.13736T>C, NM_002382.5:c.105T>G, NM_002382.5:c.105T>C, NM_002382.4:c.105T>G, NM_002382.4:c.105T>C, NM_197957.4:c.105T>G, NM_197957.4:c.105T>C, NM_197957.3:c.105T>G, NM_197957.3:c.105T>C, NM_145113.3:c.105T>G, NM_145113.3:c.105T>C, NM_145113.2:c.105T>G, NM_145113.2:c.105T>C, NM_145112.3:c.78T>G, NM_145112.3:c.78T>C, NM_145112.2:c.78T>G, NM_145112.2:c.78T>C, NM_145114.3:c.105T>G, NM_145114.3:c.105T>C, NM_145114.2:c.105T>G, NM_145114.2:c.105T>C, NM_001320415.2:c.-170T>G, NM_001320415.2:c.-170T>C, NM_001320415.1:c.-170T>G, NM_001320415.1:c.-170T>C, NR_073137.2:n.229T>G, NR_073137.2:n.229T>C, NR_073137.1:n.229T>G, NR_073137.1:n.229T>C, NM_001271068.2:c.78T>G, NM_001271068.2:c.78T>C, NM_001271068.1:c.78T>G, NM_001271068.1:c.78T>C, NR_073138.2:n.51T>G, NR_073138.2:n.51T>C, NR_073138.1:n.229T>G, NR_073138.1:n.229T>C, NM_001271069.2:c.78T>G, NM_001271069.2:c.78T>C, NM_001271069.1:c.78T>G, NM_001271069.1:c.78T>C, NM_001407097.1:c.105T>G, NM_001407097.1:c.105T>C, NM_001407096.1:c.105T>G, NM_001407096.1:c.105T>C, NM_001407100.1:c.78T>G, NM_001407100.1:c.78T>C, NR_176281.1:n.247T>G, NR_176281.1:n.247T>C, NM_001407099.1:c.78T>G, NM_001407099.1:c.78T>C, NM_001407111.1:c.-263T>G, NM_001407111.1:c.-263T>C, NM_001407109.1:c.78T>G, NM_001407109.1:c.78T>C, NR_176275.1:n.247T>G, NR_176275.1:n.247T>C, NM_001407108.1:c.78T>G, NM_001407108.1:c.78T>C, NM_001407105.1:c.-170T>G, NM_001407105.1:c.-170T>C, NM_001407101.1:c.78T>G, NM_001407101.1:c.78T>C, NR_176279.1:n.181T>G, NR_176279.1:n.181T>C, NM_001407102.1:c.78T>G, NM_001407102.1:c.78T>C, NR_176280.1:n.247T>G, NR_176280.1:n.247T>C, NM_001407103.1:c.105T>G, NM_001407103.1:c.105T>C, NM_001407104.1:c.105T>G, NM_001407104.1:c.105T>C, NM_001407112.1:c.-263T>G, NM_001407112.1:c.-263T>C, NM_001407110.1:c.78T>G, NM_001407110.1:c.78T>C, NM_001407107.1:c.-170T>G, NM_001407107.1:c.-170T>C, NM_001407106.1:c.-170T>G, NM_001407106.1:c.-170T>C, NR_176282.1:n.51T>G, NR_176282.1:n.51T>C, NM_001407094.1:c.105T>G, NM_001407094.1:c.105T>C, NM_001407095.1:c.78T>G, NM_001407095.1:c.78T>C, NR_176278.1:n.78T>G, NR_176278.1:n.78T>C, NR_176276.1:n.247T>G, NR_176276.1:n.247T>C, NR_176277.1:n.220T>G, NR_176277.1:n.220T>C, NM_001407114.1:c.128T>G, NM_001407114.1:c.128T>C, NM_001407113.1:c.78T>G, NM_001407113.1:c.78T>C, NR_176283.1:n.78T>G, NR_176283.1:n.78T>C, XR_943450.4:n.283T>G, XR_943450.4:n.283T>C, XR_943452.4:n.256T>G, XR_943452.4:n.256T>C, XM_011536773.4:c.105T>G, XM_011536773.4:c.105T>C, XM_011536773.3:c.105T>G, XM_011536773.3:c.105T>C, XM_011536773.2:c.105T>G, XM_011536773.2:c.105T>C, XM_011536773.1:c.105T>G, XM_011536773.1:c.105T>C, XR_007064012.1:n.256T>G, XR_007064012.1:n.256T>C, NR_045122.1:n.358A>C, NR_045122.1:n.358A>G, NM_145116.1:c.105T>G, NM_145116.1:c.105T>C

      3.

      rs1435018573 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,G,T [Show Flanks]
        Chromosome:
        14:65093815 (GRCh38)
        14:65560533 (GRCh37)
        Canonical SPDI:
        NC_000014.9:65093814:C:A,NC_000014.9:65093814:C:G,NC_000014.9:65093814:C:T
        Gene:
        MAX (Varview), LOC100506321 (Varview)
        Functional Consequence:
        5_prime_UTR_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000071/1 (ALFA)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000014.9:g.65093815C>A, NC_000014.9:g.65093815C>G, NC_000014.9:g.65093815C>T, NC_000014.8:g.65560533C>A, NC_000014.8:g.65560533C>G, NC_000014.8:g.65560533C>T, NG_029830.1:g.13695G>T, NG_029830.1:g.13695G>C, NG_029830.1:g.13695G>A, NM_002382.5:c.64G>T, NM_002382.5:c.64G>C, NM_002382.5:c.64G>A, NM_002382.4:c.64G>T, NM_002382.4:c.64G>C, NM_002382.4:c.64G>A, NM_197957.4:c.64G>T, NM_197957.4:c.64G>C, NM_197957.4:c.64G>A, NM_197957.3:c.64G>T, NM_197957.3:c.64G>C, NM_197957.3:c.64G>A, NM_145113.3:c.64G>T, NM_145113.3:c.64G>C, NM_145113.3:c.64G>A, NM_145113.2:c.64G>T, NM_145113.2:c.64G>C, NM_145113.2:c.64G>A, NM_145112.3:c.37G>T, NM_145112.3:c.37G>C, NM_145112.3:c.37G>A, NM_145112.2:c.37G>T, NM_145112.2:c.37G>C, NM_145112.2:c.37G>A, NM_145114.3:c.64G>T, NM_145114.3:c.64G>C, NM_145114.3:c.64G>A, NM_145114.2:c.64G>T, NM_145114.2:c.64G>C, NM_145114.2:c.64G>A, NM_001320415.2:c.-211G>T, NM_001320415.2:c.-211G>C, NM_001320415.2:c.-211G>A, NM_001320415.1:c.-211G>T, NM_001320415.1:c.-211G>C, NM_001320415.1:c.-211G>A, NR_073137.2:n.188G>T, NR_073137.2:n.188G>C, NR_073137.2:n.188G>A, NR_073137.1:n.188G>T, NR_073137.1:n.188G>C, NR_073137.1:n.188G>A, NM_001271068.2:c.37G>T, NM_001271068.2:c.37G>C, NM_001271068.2:c.37G>A, NM_001271068.1:c.37G>T, NM_001271068.1:c.37G>C, NM_001271068.1:c.37G>A, NR_073138.2:n.10G>T, NR_073138.2:n.10G>C, NR_073138.2:n.10G>A, NR_073138.1:n.188G>T, NR_073138.1:n.188G>C, NR_073138.1:n.188G>A, NM_001271069.2:c.37G>T, NM_001271069.2:c.37G>C, NM_001271069.2:c.37G>A, NM_001271069.1:c.37G>T, NM_001271069.1:c.37G>C, NM_001271069.1:c.37G>A, NM_001407097.1:c.64G>T, NM_001407097.1:c.64G>C, NM_001407097.1:c.64G>A, NM_001407096.1:c.64G>T, NM_001407096.1:c.64G>C, NM_001407096.1:c.64G>A, NM_001407100.1:c.37G>T, NM_001407100.1:c.37G>C, NM_001407100.1:c.37G>A, NR_176281.1:n.206G>T, NR_176281.1:n.206G>C, NR_176281.1:n.206G>A, NM_001407099.1:c.37G>T, NM_001407099.1:c.37G>C, NM_001407099.1:c.37G>A, NM_001407111.1:c.-304G>T, NM_001407111.1:c.-304G>C, NM_001407111.1:c.-304G>A, NM_001407109.1:c.37G>T, NM_001407109.1:c.37G>C, NM_001407109.1:c.37G>A, NR_176275.1:n.206G>T, NR_176275.1:n.206G>C, NR_176275.1:n.206G>A, NM_001407108.1:c.37G>T, NM_001407108.1:c.37G>C, NM_001407108.1:c.37G>A, NM_001407105.1:c.-211G>T, NM_001407105.1:c.-211G>C, NM_001407105.1:c.-211G>A, NM_001407101.1:c.37G>T, NM_001407101.1:c.37G>C, NM_001407101.1:c.37G>A, NR_176279.1:n.140G>T, NR_176279.1:n.140G>C, NR_176279.1:n.140G>A, NM_001407102.1:c.37G>T, NM_001407102.1:c.37G>C, NM_001407102.1:c.37G>A, NR_176280.1:n.206G>T, NR_176280.1:n.206G>C, NR_176280.1:n.206G>A, NM_001407103.1:c.64G>T, NM_001407103.1:c.64G>C, NM_001407103.1:c.64G>A, NM_001407104.1:c.64G>T, NM_001407104.1:c.64G>C, NM_001407104.1:c.64G>A, NM_001407112.1:c.-304G>T, NM_001407112.1:c.-304G>C, NM_001407112.1:c.-304G>A, NM_001407110.1:c.37G>T, NM_001407110.1:c.37G>C, NM_001407110.1:c.37G>A, NM_001407107.1:c.-211G>T, NM_001407107.1:c.-211G>C, NM_001407107.1:c.-211G>A, NM_001407106.1:c.-211G>T, NM_001407106.1:c.-211G>C, NM_001407106.1:c.-211G>A, NR_176282.1:n.10G>T, NR_176282.1:n.10G>C, NR_176282.1:n.10G>A, NM_001407094.1:c.64G>T, NM_001407094.1:c.64G>C, NM_001407094.1:c.64G>A, NM_001407095.1:c.37G>T, NM_001407095.1:c.37G>C, NM_001407095.1:c.37G>A, NR_176278.1:n.37G>T, NR_176278.1:n.37G>C, NR_176278.1:n.37G>A, NR_176276.1:n.206G>T, NR_176276.1:n.206G>C, NR_176276.1:n.206G>A, NR_176277.1:n.179G>T, NR_176277.1:n.179G>C, NR_176277.1:n.179G>A, NM_001407114.1:c.87G>T, NM_001407114.1:c.87G>C, NM_001407114.1:c.87G>A, NM_001407113.1:c.37G>T, NM_001407113.1:c.37G>C, NM_001407113.1:c.37G>A, NR_176283.1:n.37G>T, NR_176283.1:n.37G>C, NR_176283.1:n.37G>A, XR_943450.4:n.242G>T, XR_943450.4:n.242G>C, XR_943450.4:n.242G>A, XR_943452.4:n.215G>T, XR_943452.4:n.215G>C, XR_943452.4:n.215G>A, XM_011536773.4:c.64G>T, XM_011536773.4:c.64G>C, XM_011536773.4:c.64G>A, XM_011536773.3:c.64G>T, XM_011536773.3:c.64G>C, XM_011536773.3:c.64G>A, XM_011536773.2:c.64G>T, XM_011536773.2:c.64G>C, XM_011536773.2:c.64G>A, XM_011536773.1:c.64G>T, XM_011536773.1:c.64G>C, XM_011536773.1:c.64G>A, XR_007064012.1:n.215G>T, XR_007064012.1:n.215G>C, XR_007064012.1:n.215G>A, NR_045122.1:n.399C>A, NR_045122.1:n.399C>G, NR_045122.1:n.399C>T, NM_145116.1:c.64G>T, NM_145116.1:c.64G>C, NM_145116.1:c.64G>A, NP_002373.3:p.Ala22Ser, NP_002373.3:p.Ala22Pro, NP_002373.3:p.Ala22Thr, NP_932061.1:p.Ala22Ser, NP_932061.1:p.Ala22Pro, NP_932061.1:p.Ala22Thr, NP_660088.1:p.Ala22Ser, NP_660088.1:p.Ala22Pro, NP_660088.1:p.Ala22Thr, NP_660087.1:p.Ala13Ser, NP_660087.1:p.Ala13Pro, NP_660087.1:p.Ala13Thr, NP_660089.1:p.Ala22Ser, NP_660089.1:p.Ala22Pro, NP_660089.1:p.Ala22Thr, NP_001257997.1:p.Ala13Ser, NP_001257997.1:p.Ala13Pro, NP_001257997.1:p.Ala13Thr, NP_001257998.1:p.Ala13Ser, NP_001257998.1:p.Ala13Pro, NP_001257998.1:p.Ala13Thr, XP_011535075.1:p.Ala22Ser, XP_011535075.1:p.Ala22Pro, XP_011535075.1:p.Ala22Thr

        4.

        rs1420088914 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C,T [Show Flanks]
          Chromosome:
          14:65093814 (GRCh38)
          14:65560532 (GRCh37)
          Canonical SPDI:
          NC_000014.9:65093813:G:A,NC_000014.9:65093813:G:C,NC_000014.9:65093813:G:T
          Gene:
          MAX (Varview), LOC100506321 (Varview)
          Functional Consequence:
          missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
          Validated:
          by frequency,by cluster
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000014.9:g.65093814G>A, NC_000014.9:g.65093814G>C, NC_000014.9:g.65093814G>T, NC_000014.8:g.65560532G>A, NC_000014.8:g.65560532G>C, NC_000014.8:g.65560532G>T, NG_029830.1:g.13696C>T, NG_029830.1:g.13696C>G, NG_029830.1:g.13696C>A, NM_002382.5:c.65C>T, NM_002382.5:c.65C>G, NM_002382.5:c.65C>A, NM_002382.4:c.65C>T, NM_002382.4:c.65C>G, NM_002382.4:c.65C>A, NM_197957.4:c.65C>T, NM_197957.4:c.65C>G, NM_197957.4:c.65C>A, NM_197957.3:c.65C>T, NM_197957.3:c.65C>G, NM_197957.3:c.65C>A, NM_145113.3:c.65C>T, NM_145113.3:c.65C>G, NM_145113.3:c.65C>A, NM_145113.2:c.65C>T, NM_145113.2:c.65C>G, NM_145113.2:c.65C>A, NM_145112.3:c.38C>T, NM_145112.3:c.38C>G, NM_145112.3:c.38C>A, NM_145112.2:c.38C>T, NM_145112.2:c.38C>G, NM_145112.2:c.38C>A, NM_145114.3:c.65C>T, NM_145114.3:c.65C>G, NM_145114.3:c.65C>A, NM_145114.2:c.65C>T, NM_145114.2:c.65C>G, NM_145114.2:c.65C>A, NM_001320415.2:c.-210C>T, NM_001320415.2:c.-210C>G, NM_001320415.2:c.-210C>A, NM_001320415.1:c.-210C>T, NM_001320415.1:c.-210C>G, NM_001320415.1:c.-210C>A, NR_073137.2:n.189C>T, NR_073137.2:n.189C>G, NR_073137.2:n.189C>A, NR_073137.1:n.189C>T, NR_073137.1:n.189C>G, NR_073137.1:n.189C>A, NM_001271068.2:c.38C>T, NM_001271068.2:c.38C>G, NM_001271068.2:c.38C>A, NM_001271068.1:c.38C>T, NM_001271068.1:c.38C>G, NM_001271068.1:c.38C>A, NR_073138.2:n.11C>T, NR_073138.2:n.11C>G, NR_073138.2:n.11C>A, NR_073138.1:n.189C>T, NR_073138.1:n.189C>G, NR_073138.1:n.189C>A, NM_001271069.2:c.38C>T, NM_001271069.2:c.38C>G, NM_001271069.2:c.38C>A, NM_001271069.1:c.38C>T, NM_001271069.1:c.38C>G, NM_001271069.1:c.38C>A, NM_001407097.1:c.65C>T, NM_001407097.1:c.65C>G, NM_001407097.1:c.65C>A, NM_001407096.1:c.65C>T, NM_001407096.1:c.65C>G, NM_001407096.1:c.65C>A, NM_001407100.1:c.38C>T, NM_001407100.1:c.38C>G, NM_001407100.1:c.38C>A, NR_176281.1:n.207C>T, NR_176281.1:n.207C>G, NR_176281.1:n.207C>A, NM_001407099.1:c.38C>T, NM_001407099.1:c.38C>G, NM_001407099.1:c.38C>A, NM_001407111.1:c.-303C>T, NM_001407111.1:c.-303C>G, NM_001407111.1:c.-303C>A, NM_001407109.1:c.38C>T, NM_001407109.1:c.38C>G, NM_001407109.1:c.38C>A, NR_176275.1:n.207C>T, NR_176275.1:n.207C>G, NR_176275.1:n.207C>A, NM_001407108.1:c.38C>T, NM_001407108.1:c.38C>G, NM_001407108.1:c.38C>A, NM_001407105.1:c.-210C>T, NM_001407105.1:c.-210C>G, NM_001407105.1:c.-210C>A, NM_001407101.1:c.38C>T, NM_001407101.1:c.38C>G, NM_001407101.1:c.38C>A, NR_176279.1:n.141C>T, NR_176279.1:n.141C>G, NR_176279.1:n.141C>A, NM_001407102.1:c.38C>T, NM_001407102.1:c.38C>G, NM_001407102.1:c.38C>A, NR_176280.1:n.207C>T, NR_176280.1:n.207C>G, NR_176280.1:n.207C>A, NM_001407103.1:c.65C>T, NM_001407103.1:c.65C>G, NM_001407103.1:c.65C>A, NM_001407104.1:c.65C>T, NM_001407104.1:c.65C>G, NM_001407104.1:c.65C>A, NM_001407112.1:c.-303C>T, NM_001407112.1:c.-303C>G, NM_001407112.1:c.-303C>A, NM_001407110.1:c.38C>T, NM_001407110.1:c.38C>G, NM_001407110.1:c.38C>A, NM_001407107.1:c.-210C>T, NM_001407107.1:c.-210C>G, NM_001407107.1:c.-210C>A, NM_001407106.1:c.-210C>T, NM_001407106.1:c.-210C>G, NM_001407106.1:c.-210C>A, NR_176282.1:n.11C>T, NR_176282.1:n.11C>G, NR_176282.1:n.11C>A, NM_001407094.1:c.65C>T, NM_001407094.1:c.65C>G, NM_001407094.1:c.65C>A, NM_001407095.1:c.38C>T, NM_001407095.1:c.38C>G, NM_001407095.1:c.38C>A, NR_176278.1:n.38C>T, NR_176278.1:n.38C>G, NR_176278.1:n.38C>A, NR_176276.1:n.207C>T, NR_176276.1:n.207C>G, NR_176276.1:n.207C>A, NR_176277.1:n.180C>T, NR_176277.1:n.180C>G, NR_176277.1:n.180C>A, NM_001407114.1:c.88C>T, NM_001407114.1:c.88C>G, NM_001407114.1:c.88C>A, NM_001407113.1:c.38C>T, NM_001407113.1:c.38C>G, NM_001407113.1:c.38C>A, NR_176283.1:n.38C>T, NR_176283.1:n.38C>G, NR_176283.1:n.38C>A, XR_943450.4:n.243C>T, XR_943450.4:n.243C>G, XR_943450.4:n.243C>A, XR_943452.4:n.216C>T, XR_943452.4:n.216C>G, XR_943452.4:n.216C>A, XM_011536773.4:c.65C>T, XM_011536773.4:c.65C>G, XM_011536773.4:c.65C>A, XM_011536773.3:c.65C>T, XM_011536773.3:c.65C>G, XM_011536773.3:c.65C>A, XM_011536773.2:c.65C>T, XM_011536773.2:c.65C>G, XM_011536773.2:c.65C>A, XM_011536773.1:c.65C>T, XM_011536773.1:c.65C>G, XM_011536773.1:c.65C>A, XR_007064012.1:n.216C>T, XR_007064012.1:n.216C>G, XR_007064012.1:n.216C>A, NR_045122.1:n.398G>A, NR_045122.1:n.398G>C, NR_045122.1:n.398G>T, NM_145116.1:c.65C>T, NM_145116.1:c.65C>G, NM_145116.1:c.65C>A, NP_002373.3:p.Ala22Val, NP_002373.3:p.Ala22Gly, NP_002373.3:p.Ala22Asp, NP_932061.1:p.Ala22Val, NP_932061.1:p.Ala22Gly, NP_932061.1:p.Ala22Asp, NP_660088.1:p.Ala22Val, NP_660088.1:p.Ala22Gly, NP_660088.1:p.Ala22Asp, NP_660087.1:p.Ala13Val, NP_660087.1:p.Ala13Gly, NP_660087.1:p.Ala13Asp, NP_660089.1:p.Ala22Val, NP_660089.1:p.Ala22Gly, NP_660089.1:p.Ala22Asp, NP_001257997.1:p.Ala13Val, NP_001257997.1:p.Ala13Gly, NP_001257997.1:p.Ala13Asp, NP_001257998.1:p.Ala13Val, NP_001257998.1:p.Ala13Gly, NP_001257998.1:p.Ala13Asp, XP_011535075.1:p.Ala22Val, XP_011535075.1:p.Ala22Gly, XP_011535075.1:p.Ala22Asp

          5.

          rs1386979906 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            14:65093805 (GRCh38)
            14:65560523 (GRCh37)
            Canonical SPDI:
            NC_000014.9:65093804:C:T
            Gene:
            MAX (Varview), LOC100506321 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by cluster
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000014.9:g.65093805C>T, NC_000014.8:g.65560523C>T, NG_029830.1:g.13705G>A, NM_002382.5:c.74G>A, NM_002382.4:c.74G>A, NM_197957.4:c.74G>A, NM_197957.3:c.74G>A, NM_145113.3:c.74G>A, NM_145113.2:c.74G>A, NM_145112.3:c.47G>A, NM_145112.2:c.47G>A, NM_145114.3:c.74G>A, NM_145114.2:c.74G>A, NM_001320415.2:c.-201G>A, NM_001320415.1:c.-201G>A, NR_073137.2:n.198G>A, NR_073137.1:n.198G>A, NM_001271068.2:c.47G>A, NM_001271068.1:c.47G>A, NR_073138.2:n.20G>A, NR_073138.1:n.198G>A, NM_001271069.2:c.47G>A, NM_001271069.1:c.47G>A, NM_001407097.1:c.74G>A, NM_001407096.1:c.74G>A, NM_001407100.1:c.47G>A, NR_176281.1:n.216G>A, NM_001407099.1:c.47G>A, NM_001407111.1:c.-294G>A, NM_001407109.1:c.47G>A, NR_176275.1:n.216G>A, NM_001407108.1:c.47G>A, NM_001407105.1:c.-201G>A, NM_001407101.1:c.47G>A, NR_176279.1:n.150G>A, NM_001407102.1:c.47G>A, NR_176280.1:n.216G>A, NM_001407103.1:c.74G>A, NM_001407104.1:c.74G>A, NM_001407112.1:c.-294G>A, NM_001407110.1:c.47G>A, NM_001407107.1:c.-201G>A, NM_001407106.1:c.-201G>A, NR_176282.1:n.20G>A, NM_001407094.1:c.74G>A, NM_001407095.1:c.47G>A, NR_176278.1:n.47G>A, NR_176276.1:n.216G>A, NR_176277.1:n.189G>A, NM_001407114.1:c.97G>A, NM_001407113.1:c.47G>A, NR_176283.1:n.47G>A, XR_943450.4:n.252G>A, XR_943452.4:n.225G>A, XM_011536773.4:c.74G>A, XM_011536773.3:c.74G>A, XM_011536773.2:c.74G>A, XM_011536773.1:c.74G>A, XR_007064012.1:n.225G>A, NR_045122.1:n.389C>T, NM_145116.1:c.74G>A, NP_002373.3:p.Arg25Gln, NP_932061.1:p.Arg25Gln, NP_660088.1:p.Arg25Gln, NP_660087.1:p.Arg16Gln, NP_660089.1:p.Arg25Gln, NP_001257997.1:p.Arg16Gln, NP_001257998.1:p.Arg16Gln, XP_011535075.1:p.Arg25Gln

            6.

            rs1378784763 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              14:65006257 (GRCh38)
              14:65472975 (GRCh37)
              Canonical SPDI:
              NC_000014.9:65006256:G:T
              Gene:
              FNTB (Varview), MAX (Varview), CHURC1-FNTB (Varview)
              Functional Consequence:
              intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:

              7.

              rs1327922092 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                14:65093715 (GRCh38)
                14:65560433 (GRCh37)
                Canonical SPDI:
                NC_000014.9:65093714:C:G,NC_000014.9:65093714:C:T
                Gene:
                MAX (Varview), LOC100506321 (Varview)
                Functional Consequence:
                5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (TOPMED)
                HGVS:
                NC_000014.9:g.65093715C>G, NC_000014.9:g.65093715C>T, NC_000014.8:g.65560433C>G, NC_000014.8:g.65560433C>T, NG_029830.1:g.13795G>C, NG_029830.1:g.13795G>A, NM_002382.5:c.164G>C, NM_002382.5:c.164G>A, NM_002382.4:c.164G>C, NM_002382.4:c.164G>A, NM_197957.4:c.164G>C, NM_197957.4:c.164G>A, NM_197957.3:c.164G>C, NM_197957.3:c.164G>A, NM_145113.3:c.164G>C, NM_145113.3:c.164G>A, NM_145113.2:c.164G>C, NM_145113.2:c.164G>A, NM_145112.3:c.137G>C, NM_145112.3:c.137G>A, NM_145112.2:c.137G>C, NM_145112.2:c.137G>A, NM_145114.3:c.164G>C, NM_145114.3:c.164G>A, NM_145114.2:c.164G>C, NM_145114.2:c.164G>A, NM_001320415.2:c.-111G>C, NM_001320415.2:c.-111G>A, NM_001320415.1:c.-111G>C, NM_001320415.1:c.-111G>A, NR_073137.2:n.288G>C, NR_073137.2:n.288G>A, NR_073137.1:n.288G>C, NR_073137.1:n.288G>A, NM_001271068.2:c.137G>C, NM_001271068.2:c.137G>A, NM_001271068.1:c.137G>C, NM_001271068.1:c.137G>A, NR_073138.2:n.110G>C, NR_073138.2:n.110G>A, NR_073138.1:n.288G>C, NR_073138.1:n.288G>A, NM_001271069.2:c.137G>C, NM_001271069.2:c.137G>A, NM_001271069.1:c.137G>C, NM_001271069.1:c.137G>A, NM_001407097.1:c.164G>C, NM_001407097.1:c.164G>A, NM_001407096.1:c.164G>C, NM_001407096.1:c.164G>A, NM_001407100.1:c.137G>C, NM_001407100.1:c.137G>A, NR_176281.1:n.306G>C, NR_176281.1:n.306G>A, NM_001407099.1:c.137G>C, NM_001407099.1:c.137G>A, NM_001407111.1:c.-204G>C, NM_001407111.1:c.-204G>A, NM_001407109.1:c.137G>C, NM_001407109.1:c.137G>A, NR_176275.1:n.306G>C, NR_176275.1:n.306G>A, NM_001407108.1:c.137G>C, NM_001407108.1:c.137G>A, NM_001407105.1:c.-111G>C, NM_001407105.1:c.-111G>A, NM_001407101.1:c.137G>C, NM_001407101.1:c.137G>A, NR_176279.1:n.240G>C, NR_176279.1:n.240G>A, NM_001407102.1:c.137G>C, NM_001407102.1:c.137G>A, NR_176280.1:n.306G>C, NR_176280.1:n.306G>A, NM_001407103.1:c.164G>C, NM_001407103.1:c.164G>A, NM_001407104.1:c.164G>C, NM_001407104.1:c.164G>A, NM_001407112.1:c.-204G>C, NM_001407112.1:c.-204G>A, NM_001407110.1:c.137G>C, NM_001407110.1:c.137G>A, NM_001407107.1:c.-111G>C, NM_001407107.1:c.-111G>A, NM_001407106.1:c.-111G>C, NM_001407106.1:c.-111G>A, NR_176282.1:n.110G>C, NR_176282.1:n.110G>A, NM_001407094.1:c.164G>C, NM_001407094.1:c.164G>A, NM_001407095.1:c.137G>C, NM_001407095.1:c.137G>A, NR_176278.1:n.137G>C, NR_176278.1:n.137G>A, NR_176276.1:n.306G>C, NR_176276.1:n.306G>A, NR_176277.1:n.279G>C, NR_176277.1:n.279G>A, NM_001407114.1:c.187G>C, NM_001407114.1:c.187G>A, NM_001407113.1:c.137G>C, NM_001407113.1:c.137G>A, NR_176283.1:n.137G>C, NR_176283.1:n.137G>A, XR_943450.4:n.342G>C, XR_943450.4:n.342G>A, XR_943452.4:n.315G>C, XR_943452.4:n.315G>A, XM_011536773.4:c.164G>C, XM_011536773.4:c.164G>A, XM_011536773.3:c.164G>C, XM_011536773.3:c.164G>A, XM_011536773.2:c.164G>C, XM_011536773.2:c.164G>A, XM_011536773.1:c.164G>C, XM_011536773.1:c.164G>A, XR_007064012.1:n.315G>C, XR_007064012.1:n.315G>A, NR_045122.1:n.299C>G, NR_045122.1:n.299C>T, NM_145116.1:c.164G>C, NM_145116.1:c.164G>A, NP_002373.3:p.Gly55Ala, NP_002373.3:p.Gly55Glu, NP_932061.1:p.Gly55Ala, NP_932061.1:p.Gly55Glu, NP_660088.1:p.Gly55Ala, NP_660088.1:p.Gly55Glu, NP_660087.1:p.Gly46Ala, NP_660087.1:p.Gly46Glu, NP_660089.1:p.Gly55Ala, NP_660089.1:p.Gly55Glu, NP_001257997.1:p.Gly46Ala, NP_001257997.1:p.Gly46Glu, NP_001257998.1:p.Gly46Ala, NP_001257998.1:p.Gly46Glu, XP_011535075.1:p.Gly55Ala, XP_011535075.1:p.Gly55Glu

                8.

                rs1299805897 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  14:65006274 (GRCh38)
                  14:65472992 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:65006273:A:G
                  Gene:
                  FNTB (Varview), MAX (Varview), CHURC1-FNTB (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1291633212 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G,T [Show Flanks]
                    Chromosome:
                    14:65093801 (GRCh38)
                    14:65560519 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:65093800:A:G,NC_000014.9:65093800:A:T
                    Gene:
                    MAX (Varview), LOC100506321 (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000224/1 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000223/1 (Estonian)
                    HGVS:
                    NC_000014.9:g.65093801A>G, NC_000014.9:g.65093801A>T, NC_000014.8:g.65560519A>G, NC_000014.8:g.65560519A>T, NG_029830.1:g.13709T>C, NG_029830.1:g.13709T>A, NM_002382.5:c.78T>C, NM_002382.5:c.78T>A, NM_002382.4:c.78T>C, NM_002382.4:c.78T>A, NM_197957.4:c.78T>C, NM_197957.4:c.78T>A, NM_197957.3:c.78T>C, NM_197957.3:c.78T>A, NM_145113.3:c.78T>C, NM_145113.3:c.78T>A, NM_145113.2:c.78T>C, NM_145113.2:c.78T>A, NM_145112.3:c.51T>C, NM_145112.3:c.51T>A, NM_145112.2:c.51T>C, NM_145112.2:c.51T>A, NM_145114.3:c.78T>C, NM_145114.3:c.78T>A, NM_145114.2:c.78T>C, NM_145114.2:c.78T>A, NM_001320415.2:c.-197T>C, NM_001320415.2:c.-197T>A, NM_001320415.1:c.-197T>C, NM_001320415.1:c.-197T>A, NR_073137.2:n.202T>C, NR_073137.2:n.202T>A, NR_073137.1:n.202T>C, NR_073137.1:n.202T>A, NM_001271068.2:c.51T>C, NM_001271068.2:c.51T>A, NM_001271068.1:c.51T>C, NM_001271068.1:c.51T>A, NR_073138.2:n.24T>C, NR_073138.2:n.24T>A, NR_073138.1:n.202T>C, NR_073138.1:n.202T>A, NM_001271069.2:c.51T>C, NM_001271069.2:c.51T>A, NM_001271069.1:c.51T>C, NM_001271069.1:c.51T>A, NM_001407097.1:c.78T>C, NM_001407097.1:c.78T>A, NM_001407096.1:c.78T>C, NM_001407096.1:c.78T>A, NM_001407100.1:c.51T>C, NM_001407100.1:c.51T>A, NR_176281.1:n.220T>C, NR_176281.1:n.220T>A, NM_001407099.1:c.51T>C, NM_001407099.1:c.51T>A, NM_001407111.1:c.-290T>C, NM_001407111.1:c.-290T>A, NM_001407109.1:c.51T>C, NM_001407109.1:c.51T>A, NR_176275.1:n.220T>C, NR_176275.1:n.220T>A, NM_001407108.1:c.51T>C, NM_001407108.1:c.51T>A, NM_001407105.1:c.-197T>C, NM_001407105.1:c.-197T>A, NM_001407101.1:c.51T>C, NM_001407101.1:c.51T>A, NR_176279.1:n.154T>C, NR_176279.1:n.154T>A, NM_001407102.1:c.51T>C, NM_001407102.1:c.51T>A, NR_176280.1:n.220T>C, NR_176280.1:n.220T>A, NM_001407103.1:c.78T>C, NM_001407103.1:c.78T>A, NM_001407104.1:c.78T>C, NM_001407104.1:c.78T>A, NM_001407112.1:c.-290T>C, NM_001407112.1:c.-290T>A, NM_001407110.1:c.51T>C, NM_001407110.1:c.51T>A, NM_001407107.1:c.-197T>C, NM_001407107.1:c.-197T>A, NM_001407106.1:c.-197T>C, NM_001407106.1:c.-197T>A, NR_176282.1:n.24T>C, NR_176282.1:n.24T>A, NM_001407094.1:c.78T>C, NM_001407094.1:c.78T>A, NM_001407095.1:c.51T>C, NM_001407095.1:c.51T>A, NR_176278.1:n.51T>C, NR_176278.1:n.51T>A, NR_176276.1:n.220T>C, NR_176276.1:n.220T>A, NR_176277.1:n.193T>C, NR_176277.1:n.193T>A, NM_001407114.1:c.101T>C, NM_001407114.1:c.101T>A, NM_001407113.1:c.51T>C, NM_001407113.1:c.51T>A, NR_176283.1:n.51T>C, NR_176283.1:n.51T>A, XR_943450.4:n.256T>C, XR_943450.4:n.256T>A, XR_943452.4:n.229T>C, XR_943452.4:n.229T>A, XM_011536773.4:c.78T>C, XM_011536773.4:c.78T>A, XM_011536773.3:c.78T>C, XM_011536773.3:c.78T>A, XM_011536773.2:c.78T>C, XM_011536773.2:c.78T>A, XM_011536773.1:c.78T>C, XM_011536773.1:c.78T>A, XR_007064012.1:n.229T>C, XR_007064012.1:n.229T>A, NR_045122.1:n.385A>G, NR_045122.1:n.385A>T, NM_145116.1:c.78T>C, NM_145116.1:c.78T>A

                    10.

                    rs1291019200 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      14:65102313 (GRCh38)
                      14:65569031 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:65102312:C:A,NC_000014.9:65102312:C:T
                      Gene:
                      MAX (Varview)
                      Functional Consequence:
                      5_prime_UTR_variant,intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000014.9:g.65102313C>A, NC_000014.9:g.65102313C>T, NC_000014.8:g.65569031C>A, NC_000014.8:g.65569031C>T, NG_029830.1:g.5197G>T, NG_029830.1:g.5197G>A, NM_002382.5:c.27G>T, NM_002382.5:c.27G>A, NM_002382.4:c.27G>T, NM_002382.4:c.27G>A, NM_197957.4:c.27G>T, NM_197957.4:c.27G>A, NM_197957.3:c.27G>T, NM_197957.3:c.27G>A, NM_145113.3:c.27G>T, NM_145113.3:c.27G>A, NM_145113.2:c.27G>T, NM_145113.2:c.27G>A, NM_145112.3:c.27G>T, NM_145112.3:c.27G>A, NM_145112.2:c.27G>T, NM_145112.2:c.27G>A, NM_145114.3:c.27G>T, NM_145114.3:c.27G>A, NM_145114.2:c.27G>T, NM_145114.2:c.27G>A, NM_001320415.2:c.-248G>T, NM_001320415.2:c.-248G>A, NM_001320415.1:c.-248G>T, NM_001320415.1:c.-248G>A, NM_001271068.2:c.27G>T, NM_001271068.2:c.27G>A, NM_001271068.1:c.27G>T, NM_001271068.1:c.27G>A, NM_001271069.2:c.27G>T, NM_001271069.2:c.27G>A, NM_001271069.1:c.27G>T, NM_001271069.1:c.27G>A, NM_001407097.1:c.27G>T, NM_001407097.1:c.27G>A, NM_001407096.1:c.27G>T, NM_001407096.1:c.27G>A, NM_001407100.1:c.27G>T, NM_001407100.1:c.27G>A, NM_001407099.1:c.27G>T, NM_001407099.1:c.27G>A, NM_001407109.1:c.27G>T, NM_001407109.1:c.27G>A, NM_001407108.1:c.27G>T, NM_001407108.1:c.27G>A, NM_001407101.1:c.27G>T, NM_001407101.1:c.27G>A, NM_001407102.1:c.27G>T, NM_001407102.1:c.27G>A, NM_001407103.1:c.27G>T, NM_001407103.1:c.27G>A, NM_001407104.1:c.27G>T, NM_001407104.1:c.27G>A, NM_001407110.1:c.27G>T, NM_001407110.1:c.27G>A, NM_001407107.1:c.-221G>T, NM_001407107.1:c.-221G>A, NM_001407098.1:c.27G>T, NM_001407098.1:c.27G>A, NM_001407094.1:c.27G>T, NM_001407094.1:c.27G>A, NM_001407095.1:c.27G>T, NM_001407095.1:c.27G>A, NM_001407113.1:c.27G>T, NM_001407113.1:c.27G>A, XR_943450.4:n.205G>T, XR_943450.4:n.205G>A, XR_943452.4:n.205G>T, XR_943452.4:n.205G>A, XM_011536773.4:c.27G>T, XM_011536773.4:c.27G>A, XM_011536773.3:c.27G>T, XM_011536773.3:c.27G>A, XM_011536773.2:c.27G>T, XM_011536773.2:c.27G>A, XM_011536773.1:c.27G>T, XM_011536773.1:c.27G>A, XR_007064012.1:n.205G>T, XR_007064012.1:n.205G>A, NM_145116.1:c.27G>T, NM_145116.1:c.27G>A

                      11.

                      rs1282847554 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        14:65006281 (GRCh38)
                        14:65472999 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:65006280:T:C
                        Gene:
                        FNTB (Varview), MAX (Varview), CHURC1-FNTB (Varview)
                        Functional Consequence:
                        intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1243990911 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          14:65006259 (GRCh38)
                          14:65472977 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:65006258:G:A
                          Gene:
                          FNTB (Varview), MAX (Varview), CHURC1-FNTB (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_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:

                          13.

                          rs1215966835 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            14:65006271 (GRCh38)
                            14:65472989 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:65006270:T:G
                            Gene:
                            FNTB (Varview), MAX (Varview), CHURC1-FNTB (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000051/1 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            G=0.000007/1 (GnomAD)
                            G=0.000011/3 (TOPMED)
                            HGVS:

                            14.

                            rs1187607686 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C,T [Show Flanks]
                              Chromosome:
                              14:65093720 (GRCh38)
                              14:65560438 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:65093719:G:A,NC_000014.9:65093719:G:C,NC_000014.9:65093719:G:T
                              Gene:
                              MAX (Varview), LOC100506321 (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                              Clinical significance:
                              likely-benign
                              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_000014.9:g.65093720G>A, NC_000014.9:g.65093720G>C, NC_000014.9:g.65093720G>T, NC_000014.8:g.65560438G>A, NC_000014.8:g.65560438G>C, NC_000014.8:g.65560438G>T, NG_029830.1:g.13790C>T, NG_029830.1:g.13790C>G, NG_029830.1:g.13790C>A, NM_002382.5:c.159C>T, NM_002382.5:c.159C>G, NM_002382.5:c.159C>A, NM_002382.4:c.159C>T, NM_002382.4:c.159C>G, NM_002382.4:c.159C>A, NM_197957.4:c.159C>T, NM_197957.4:c.159C>G, NM_197957.4:c.159C>A, NM_197957.3:c.159C>T, NM_197957.3:c.159C>G, NM_197957.3:c.159C>A, NM_145113.3:c.159C>T, NM_145113.3:c.159C>G, NM_145113.3:c.159C>A, NM_145113.2:c.159C>T, NM_145113.2:c.159C>G, NM_145113.2:c.159C>A, NM_145112.3:c.132C>T, NM_145112.3:c.132C>G, NM_145112.3:c.132C>A, NM_145112.2:c.132C>T, NM_145112.2:c.132C>G, NM_145112.2:c.132C>A, NM_145114.3:c.159C>T, NM_145114.3:c.159C>G, NM_145114.3:c.159C>A, NM_145114.2:c.159C>T, NM_145114.2:c.159C>G, NM_145114.2:c.159C>A, NM_001320415.2:c.-116C>T, NM_001320415.2:c.-116C>G, NM_001320415.2:c.-116C>A, NM_001320415.1:c.-116C>T, NM_001320415.1:c.-116C>G, NM_001320415.1:c.-116C>A, NR_073137.2:n.283C>T, NR_073137.2:n.283C>G, NR_073137.2:n.283C>A, NR_073137.1:n.283C>T, NR_073137.1:n.283C>G, NR_073137.1:n.283C>A, NM_001271068.2:c.132C>T, NM_001271068.2:c.132C>G, NM_001271068.2:c.132C>A, NM_001271068.1:c.132C>T, NM_001271068.1:c.132C>G, NM_001271068.1:c.132C>A, NR_073138.2:n.105C>T, NR_073138.2:n.105C>G, NR_073138.2:n.105C>A, NR_073138.1:n.283C>T, NR_073138.1:n.283C>G, NR_073138.1:n.283C>A, NM_001271069.2:c.132C>T, NM_001271069.2:c.132C>G, NM_001271069.2:c.132C>A, NM_001271069.1:c.132C>T, NM_001271069.1:c.132C>G, NM_001271069.1:c.132C>A, NM_001407097.1:c.159C>T, NM_001407097.1:c.159C>G, NM_001407097.1:c.159C>A, NM_001407096.1:c.159C>T, NM_001407096.1:c.159C>G, NM_001407096.1:c.159C>A, NM_001407100.1:c.132C>T, NM_001407100.1:c.132C>G, NM_001407100.1:c.132C>A, NR_176281.1:n.301C>T, NR_176281.1:n.301C>G, NR_176281.1:n.301C>A, NM_001407099.1:c.132C>T, NM_001407099.1:c.132C>G, NM_001407099.1:c.132C>A, NM_001407111.1:c.-209C>T, NM_001407111.1:c.-209C>G, NM_001407111.1:c.-209C>A, NM_001407109.1:c.132C>T, NM_001407109.1:c.132C>G, NM_001407109.1:c.132C>A, NR_176275.1:n.301C>T, NR_176275.1:n.301C>G, NR_176275.1:n.301C>A, NM_001407108.1:c.132C>T, NM_001407108.1:c.132C>G, NM_001407108.1:c.132C>A, NM_001407105.1:c.-116C>T, NM_001407105.1:c.-116C>G, NM_001407105.1:c.-116C>A, NM_001407101.1:c.132C>T, NM_001407101.1:c.132C>G, NM_001407101.1:c.132C>A, NR_176279.1:n.235C>T, NR_176279.1:n.235C>G, NR_176279.1:n.235C>A, NM_001407102.1:c.132C>T, NM_001407102.1:c.132C>G, NM_001407102.1:c.132C>A, NR_176280.1:n.301C>T, NR_176280.1:n.301C>G, NR_176280.1:n.301C>A, NM_001407103.1:c.159C>T, NM_001407103.1:c.159C>G, NM_001407103.1:c.159C>A, NM_001407104.1:c.159C>T, NM_001407104.1:c.159C>G, NM_001407104.1:c.159C>A, NM_001407112.1:c.-209C>T, NM_001407112.1:c.-209C>G, NM_001407112.1:c.-209C>A, NM_001407110.1:c.132C>T, NM_001407110.1:c.132C>G, NM_001407110.1:c.132C>A, NM_001407107.1:c.-116C>T, NM_001407107.1:c.-116C>G, NM_001407107.1:c.-116C>A, NM_001407106.1:c.-116C>T, NM_001407106.1:c.-116C>G, NM_001407106.1:c.-116C>A, NR_176282.1:n.105C>T, NR_176282.1:n.105C>G, NR_176282.1:n.105C>A, NM_001407094.1:c.159C>T, NM_001407094.1:c.159C>G, NM_001407094.1:c.159C>A, NM_001407095.1:c.132C>T, NM_001407095.1:c.132C>G, NM_001407095.1:c.132C>A, NR_176278.1:n.132C>T, NR_176278.1:n.132C>G, NR_176278.1:n.132C>A, NR_176276.1:n.301C>T, NR_176276.1:n.301C>G, NR_176276.1:n.301C>A, NR_176277.1:n.274C>T, NR_176277.1:n.274C>G, NR_176277.1:n.274C>A, NM_001407114.1:c.182C>T, NM_001407114.1:c.182C>G, NM_001407114.1:c.182C>A, NM_001407113.1:c.132C>T, NM_001407113.1:c.132C>G, NM_001407113.1:c.132C>A, NR_176283.1:n.132C>T, NR_176283.1:n.132C>G, NR_176283.1:n.132C>A, XR_943450.4:n.337C>T, XR_943450.4:n.337C>G, XR_943450.4:n.337C>A, XR_943452.4:n.310C>T, XR_943452.4:n.310C>G, XR_943452.4:n.310C>A, XM_011536773.4:c.159C>T, XM_011536773.4:c.159C>G, XM_011536773.4:c.159C>A, XM_011536773.3:c.159C>T, XM_011536773.3:c.159C>G, XM_011536773.3:c.159C>A, XM_011536773.2:c.159C>T, XM_011536773.2:c.159C>G, XM_011536773.2:c.159C>A, XM_011536773.1:c.159C>T, XM_011536773.1:c.159C>G, XM_011536773.1:c.159C>A, XR_007064012.1:n.310C>T, XR_007064012.1:n.310C>G, XR_007064012.1:n.310C>A, NR_045122.1:n.304G>A, NR_045122.1:n.304G>C, NR_045122.1:n.304G>T, NM_145116.1:c.159C>T, NM_145116.1:c.159C>G, NM_145116.1:c.159C>A

                              15.

                              rs1174960252 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A,C,G [Show Flanks]
                                Chromosome:
                                14:65093808 (GRCh38)
                                14:65560526 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:65093807:T:A,NC_000014.9:65093807:T:C,NC_000014.9:65093807:T:G
                                Gene:
                                MAX (Varview), LOC100506321 (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                Clinical significance:
                                uncertain-significance
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000014.9:g.65093808T>A, NC_000014.9:g.65093808T>C, NC_000014.9:g.65093808T>G, NC_000014.8:g.65560526T>A, NC_000014.8:g.65560526T>C, NC_000014.8:g.65560526T>G, NG_029830.1:g.13702A>T, NG_029830.1:g.13702A>G, NG_029830.1:g.13702A>C, NM_002382.5:c.71A>T, NM_002382.5:c.71A>G, NM_002382.5:c.71A>C, NM_002382.4:c.71A>T, NM_002382.4:c.71A>G, NM_002382.4:c.71A>C, NM_197957.4:c.71A>T, NM_197957.4:c.71A>G, NM_197957.4:c.71A>C, NM_197957.3:c.71A>T, NM_197957.3:c.71A>G, NM_197957.3:c.71A>C, NM_145113.3:c.71A>T, NM_145113.3:c.71A>G, NM_145113.3:c.71A>C, NM_145113.2:c.71A>T, NM_145113.2:c.71A>G, NM_145113.2:c.71A>C, NM_145112.3:c.44A>T, NM_145112.3:c.44A>G, NM_145112.3:c.44A>C, NM_145112.2:c.44A>T, NM_145112.2:c.44A>G, NM_145112.2:c.44A>C, NM_145114.3:c.71A>T, NM_145114.3:c.71A>G, NM_145114.3:c.71A>C, NM_145114.2:c.71A>T, NM_145114.2:c.71A>G, NM_145114.2:c.71A>C, NM_001320415.2:c.-204A>T, NM_001320415.2:c.-204A>G, NM_001320415.2:c.-204A>C, NM_001320415.1:c.-204A>T, NM_001320415.1:c.-204A>G, NM_001320415.1:c.-204A>C, NR_073137.2:n.195A>T, NR_073137.2:n.195A>G, NR_073137.2:n.195A>C, NR_073137.1:n.195A>T, NR_073137.1:n.195A>G, NR_073137.1:n.195A>C, NM_001271068.2:c.44A>T, NM_001271068.2:c.44A>G, NM_001271068.2:c.44A>C, NM_001271068.1:c.44A>T, NM_001271068.1:c.44A>G, NM_001271068.1:c.44A>C, NR_073138.2:n.17A>T, NR_073138.2:n.17A>G, NR_073138.2:n.17A>C, NR_073138.1:n.195A>T, NR_073138.1:n.195A>G, NR_073138.1:n.195A>C, NM_001271069.2:c.44A>T, NM_001271069.2:c.44A>G, NM_001271069.2:c.44A>C, NM_001271069.1:c.44A>T, NM_001271069.1:c.44A>G, NM_001271069.1:c.44A>C, NM_001407097.1:c.71A>T, NM_001407097.1:c.71A>G, NM_001407097.1:c.71A>C, NM_001407096.1:c.71A>T, NM_001407096.1:c.71A>G, NM_001407096.1:c.71A>C, NM_001407100.1:c.44A>T, NM_001407100.1:c.44A>G, NM_001407100.1:c.44A>C, NR_176281.1:n.213A>T, NR_176281.1:n.213A>G, NR_176281.1:n.213A>C, NM_001407099.1:c.44A>T, NM_001407099.1:c.44A>G, NM_001407099.1:c.44A>C, NM_001407111.1:c.-297A>T, NM_001407111.1:c.-297A>G, NM_001407111.1:c.-297A>C, NM_001407109.1:c.44A>T, NM_001407109.1:c.44A>G, NM_001407109.1:c.44A>C, NR_176275.1:n.213A>T, NR_176275.1:n.213A>G, NR_176275.1:n.213A>C, NM_001407108.1:c.44A>T, NM_001407108.1:c.44A>G, NM_001407108.1:c.44A>C, NM_001407105.1:c.-204A>T, NM_001407105.1:c.-204A>G, NM_001407105.1:c.-204A>C, NM_001407101.1:c.44A>T, NM_001407101.1:c.44A>G, NM_001407101.1:c.44A>C, NR_176279.1:n.147A>T, NR_176279.1:n.147A>G, NR_176279.1:n.147A>C, NM_001407102.1:c.44A>T, NM_001407102.1:c.44A>G, NM_001407102.1:c.44A>C, NR_176280.1:n.213A>T, NR_176280.1:n.213A>G, NR_176280.1:n.213A>C, NM_001407103.1:c.71A>T, NM_001407103.1:c.71A>G, NM_001407103.1:c.71A>C, NM_001407104.1:c.71A>T, NM_001407104.1:c.71A>G, NM_001407104.1:c.71A>C, NM_001407112.1:c.-297A>T, NM_001407112.1:c.-297A>G, NM_001407112.1:c.-297A>C, NM_001407110.1:c.44A>T, NM_001407110.1:c.44A>G, NM_001407110.1:c.44A>C, NM_001407107.1:c.-204A>T, NM_001407107.1:c.-204A>G, NM_001407107.1:c.-204A>C, NM_001407106.1:c.-204A>T, NM_001407106.1:c.-204A>G, NM_001407106.1:c.-204A>C, NR_176282.1:n.17A>T, NR_176282.1:n.17A>G, NR_176282.1:n.17A>C, NM_001407094.1:c.71A>T, NM_001407094.1:c.71A>G, NM_001407094.1:c.71A>C, NM_001407095.1:c.44A>T, NM_001407095.1:c.44A>G, NM_001407095.1:c.44A>C, NR_176278.1:n.44A>T, NR_176278.1:n.44A>G, NR_176278.1:n.44A>C, NR_176276.1:n.213A>T, NR_176276.1:n.213A>G, NR_176276.1:n.213A>C, NR_176277.1:n.186A>T, NR_176277.1:n.186A>G, NR_176277.1:n.186A>C, NM_001407114.1:c.94A>T, NM_001407114.1:c.94A>G, NM_001407114.1:c.94A>C, NM_001407113.1:c.44A>T, NM_001407113.1:c.44A>G, NM_001407113.1:c.44A>C, NR_176283.1:n.44A>T, NR_176283.1:n.44A>G, NR_176283.1:n.44A>C, XR_943450.4:n.249A>T, XR_943450.4:n.249A>G, XR_943450.4:n.249A>C, XR_943452.4:n.222A>T, XR_943452.4:n.222A>G, XR_943452.4:n.222A>C, XM_011536773.4:c.71A>T, XM_011536773.4:c.71A>G, XM_011536773.4:c.71A>C, XM_011536773.3:c.71A>T, XM_011536773.3:c.71A>G, XM_011536773.3:c.71A>C, XM_011536773.2:c.71A>T, XM_011536773.2:c.71A>G, XM_011536773.2:c.71A>C, XM_011536773.1:c.71A>T, XM_011536773.1:c.71A>G, XM_011536773.1:c.71A>C, XR_007064012.1:n.222A>T, XR_007064012.1:n.222A>G, XR_007064012.1:n.222A>C, NR_045122.1:n.392T>A, NR_045122.1:n.392T>C, NR_045122.1:n.392T>G, NM_145116.1:c.71A>T, NM_145116.1:c.71A>G, NM_145116.1:c.71A>C, NP_002373.3:p.Lys24Ile, NP_002373.3:p.Lys24Arg, NP_002373.3:p.Lys24Thr, NP_932061.1:p.Lys24Ile, NP_932061.1:p.Lys24Arg, NP_932061.1:p.Lys24Thr, NP_660088.1:p.Lys24Ile, NP_660088.1:p.Lys24Arg, NP_660088.1:p.Lys24Thr, NP_660087.1:p.Lys15Ile, NP_660087.1:p.Lys15Arg, NP_660087.1:p.Lys15Thr, NP_660089.1:p.Lys24Ile, NP_660089.1:p.Lys24Arg, NP_660089.1:p.Lys24Thr, NP_001257997.1:p.Lys15Ile, NP_001257997.1:p.Lys15Arg, NP_001257997.1:p.Lys15Thr, NP_001257998.1:p.Lys15Ile, NP_001257998.1:p.Lys15Arg, NP_001257998.1:p.Lys15Thr, XP_011535075.1:p.Lys24Ile, XP_011535075.1:p.Lys24Arg, XP_011535075.1:p.Lys24Thr

                                16.

                                rs1156807933 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A,C,G [Show Flanks]
                                  Chromosome:
                                  14:65093799 (GRCh38)
                                  14:65560517 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:65093798:T:A,NC_000014.9:65093798:T:C,NC_000014.9:65093798:T:G
                                  Gene:
                                  MAX (Varview), LOC100506321 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000014.9:g.65093799T>A, NC_000014.9:g.65093799T>C, NC_000014.9:g.65093799T>G, NC_000014.8:g.65560517T>A, NC_000014.8:g.65560517T>C, NC_000014.8:g.65560517T>G, NG_029830.1:g.13711A>T, NG_029830.1:g.13711A>G, NG_029830.1:g.13711A>C, NM_002382.5:c.80A>T, NM_002382.5:c.80A>G, NM_002382.5:c.80A>C, NM_002382.4:c.80A>T, NM_002382.4:c.80A>G, NM_002382.4:c.80A>C, NM_197957.4:c.80A>T, NM_197957.4:c.80A>G, NM_197957.4:c.80A>C, NM_197957.3:c.80A>T, NM_197957.3:c.80A>G, NM_197957.3:c.80A>C, NM_145113.3:c.80A>T, NM_145113.3:c.80A>G, NM_145113.3:c.80A>C, NM_145113.2:c.80A>T, NM_145113.2:c.80A>G, NM_145113.2:c.80A>C, NM_145112.3:c.53A>T, NM_145112.3:c.53A>G, NM_145112.3:c.53A>C, NM_145112.2:c.53A>T, NM_145112.2:c.53A>G, NM_145112.2:c.53A>C, NM_145114.3:c.80A>T, NM_145114.3:c.80A>G, NM_145114.3:c.80A>C, NM_145114.2:c.80A>T, NM_145114.2:c.80A>G, NM_145114.2:c.80A>C, NM_001320415.2:c.-195A>T, NM_001320415.2:c.-195A>G, NM_001320415.2:c.-195A>C, NM_001320415.1:c.-195A>T, NM_001320415.1:c.-195A>G, NM_001320415.1:c.-195A>C, NR_073137.2:n.204A>T, NR_073137.2:n.204A>G, NR_073137.2:n.204A>C, NR_073137.1:n.204A>T, NR_073137.1:n.204A>G, NR_073137.1:n.204A>C, NM_001271068.2:c.53A>T, NM_001271068.2:c.53A>G, NM_001271068.2:c.53A>C, NM_001271068.1:c.53A>T, NM_001271068.1:c.53A>G, NM_001271068.1:c.53A>C, NR_073138.2:n.26A>T, NR_073138.2:n.26A>G, NR_073138.2:n.26A>C, NR_073138.1:n.204A>T, NR_073138.1:n.204A>G, NR_073138.1:n.204A>C, NM_001271069.2:c.53A>T, NM_001271069.2:c.53A>G, NM_001271069.2:c.53A>C, NM_001271069.1:c.53A>T, NM_001271069.1:c.53A>G, NM_001271069.1:c.53A>C, NM_001407097.1:c.80A>T, NM_001407097.1:c.80A>G, NM_001407097.1:c.80A>C, NM_001407096.1:c.80A>T, NM_001407096.1:c.80A>G, NM_001407096.1:c.80A>C, NM_001407100.1:c.53A>T, NM_001407100.1:c.53A>G, NM_001407100.1:c.53A>C, NR_176281.1:n.222A>T, NR_176281.1:n.222A>G, NR_176281.1:n.222A>C, NM_001407099.1:c.53A>T, NM_001407099.1:c.53A>G, NM_001407099.1:c.53A>C, NM_001407111.1:c.-288A>T, NM_001407111.1:c.-288A>G, NM_001407111.1:c.-288A>C, NM_001407109.1:c.53A>T, NM_001407109.1:c.53A>G, NM_001407109.1:c.53A>C, NR_176275.1:n.222A>T, NR_176275.1:n.222A>G, NR_176275.1:n.222A>C, NM_001407108.1:c.53A>T, NM_001407108.1:c.53A>G, NM_001407108.1:c.53A>C, NM_001407105.1:c.-195A>T, NM_001407105.1:c.-195A>G, NM_001407105.1:c.-195A>C, NM_001407101.1:c.53A>T, NM_001407101.1:c.53A>G, NM_001407101.1:c.53A>C, NR_176279.1:n.156A>T, NR_176279.1:n.156A>G, NR_176279.1:n.156A>C, NM_001407102.1:c.53A>T, NM_001407102.1:c.53A>G, NM_001407102.1:c.53A>C, NR_176280.1:n.222A>T, NR_176280.1:n.222A>G, NR_176280.1:n.222A>C, NM_001407103.1:c.80A>T, NM_001407103.1:c.80A>G, NM_001407103.1:c.80A>C, NM_001407104.1:c.80A>T, NM_001407104.1:c.80A>G, NM_001407104.1:c.80A>C, NM_001407112.1:c.-288A>T, NM_001407112.1:c.-288A>G, NM_001407112.1:c.-288A>C, NM_001407110.1:c.53A>T, NM_001407110.1:c.53A>G, NM_001407110.1:c.53A>C, NM_001407107.1:c.-195A>T, NM_001407107.1:c.-195A>G, NM_001407107.1:c.-195A>C, NM_001407106.1:c.-195A>T, NM_001407106.1:c.-195A>G, NM_001407106.1:c.-195A>C, NR_176282.1:n.26A>T, NR_176282.1:n.26A>G, NR_176282.1:n.26A>C, NM_001407094.1:c.80A>T, NM_001407094.1:c.80A>G, NM_001407094.1:c.80A>C, NM_001407095.1:c.53A>T, NM_001407095.1:c.53A>G, NM_001407095.1:c.53A>C, NR_176278.1:n.53A>T, NR_176278.1:n.53A>G, NR_176278.1:n.53A>C, NR_176276.1:n.222A>T, NR_176276.1:n.222A>G, NR_176276.1:n.222A>C, NR_176277.1:n.195A>T, NR_176277.1:n.195A>G, NR_176277.1:n.195A>C, NM_001407114.1:c.103A>T, NM_001407114.1:c.103A>G, NM_001407114.1:c.103A>C, NM_001407113.1:c.53A>T, NM_001407113.1:c.53A>G, NM_001407113.1:c.53A>C, NR_176283.1:n.53A>T, NR_176283.1:n.53A>G, NR_176283.1:n.53A>C, XR_943450.4:n.258A>T, XR_943450.4:n.258A>G, XR_943450.4:n.258A>C, XR_943452.4:n.231A>T, XR_943452.4:n.231A>G, XR_943452.4:n.231A>C, XM_011536773.4:c.80A>T, XM_011536773.4:c.80A>G, XM_011536773.4:c.80A>C, XM_011536773.3:c.80A>T, XM_011536773.3:c.80A>G, XM_011536773.3:c.80A>C, XM_011536773.2:c.80A>T, XM_011536773.2:c.80A>G, XM_011536773.2:c.80A>C, XM_011536773.1:c.80A>T, XM_011536773.1:c.80A>G, XM_011536773.1:c.80A>C, XR_007064012.1:n.231A>T, XR_007064012.1:n.231A>G, XR_007064012.1:n.231A>C, NR_045122.1:n.383T>A, NR_045122.1:n.383T>C, NR_045122.1:n.383T>G, NM_145116.1:c.80A>T, NM_145116.1:c.80A>G, NM_145116.1:c.80A>C, NP_002373.3:p.His27Leu, NP_002373.3:p.His27Arg, NP_002373.3:p.His27Pro, NP_932061.1:p.His27Leu, NP_932061.1:p.His27Arg, NP_932061.1:p.His27Pro, NP_660088.1:p.His27Leu, NP_660088.1:p.His27Arg, NP_660088.1:p.His27Pro, NP_660087.1:p.His18Leu, NP_660087.1:p.His18Arg, NP_660087.1:p.His18Pro, NP_660089.1:p.His27Leu, NP_660089.1:p.His27Arg, NP_660089.1:p.His27Pro, NP_001257997.1:p.His18Leu, NP_001257997.1:p.His18Arg, NP_001257997.1:p.His18Pro, NP_001257998.1:p.His18Leu, NP_001257998.1:p.His18Arg, NP_001257998.1:p.His18Pro, XP_011535075.1:p.His27Leu, XP_011535075.1:p.His27Arg, XP_011535075.1:p.His27Pro

                                  17.

                                  rs1060503836 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    14:65093777 (GRCh38)
                                    14:65560495 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:65093776:T:C
                                    Gene:
                                    MAX (Varview), LOC100506321 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                    Clinical significance:
                                    likely-benign
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000056/2 (ALFA)
                                    C=0.000029/4 (GnomAD)
                                    C=0.00003/8 (TOPMED)
                                    HGVS:
                                    NC_000014.9:g.65093777T>C, NC_000014.8:g.65560495T>C, NG_029830.1:g.13733A>G, NM_002382.5:c.102A>G, NM_002382.4:c.102A>G, NM_197957.4:c.102A>G, NM_197957.3:c.102A>G, NM_145113.3:c.102A>G, NM_145113.2:c.102A>G, NM_145112.3:c.75A>G, NM_145112.2:c.75A>G, NM_145114.3:c.102A>G, NM_145114.2:c.102A>G, NM_001320415.2:c.-173A>G, NM_001320415.1:c.-173A>G, NR_073137.2:n.226A>G, NR_073137.1:n.226A>G, NM_001271068.2:c.75A>G, NM_001271068.1:c.75A>G, NR_073138.2:n.48A>G, NR_073138.1:n.226A>G, NM_001271069.2:c.75A>G, NM_001271069.1:c.75A>G, NM_001407097.1:c.102A>G, NM_001407096.1:c.102A>G, NM_001407100.1:c.75A>G, NR_176281.1:n.244A>G, NM_001407099.1:c.75A>G, NM_001407111.1:c.-266A>G, NM_001407109.1:c.75A>G, NR_176275.1:n.244A>G, NM_001407108.1:c.75A>G, NM_001407105.1:c.-173A>G, NM_001407101.1:c.75A>G, NR_176279.1:n.178A>G, NM_001407102.1:c.75A>G, NR_176280.1:n.244A>G, NM_001407103.1:c.102A>G, NM_001407104.1:c.102A>G, NM_001407112.1:c.-266A>G, NM_001407110.1:c.75A>G, NM_001407107.1:c.-173A>G, NM_001407106.1:c.-173A>G, NR_176282.1:n.48A>G, NM_001407094.1:c.102A>G, NM_001407095.1:c.75A>G, NR_176278.1:n.75A>G, NR_176276.1:n.244A>G, NR_176277.1:n.217A>G, NM_001407114.1:c.125A>G, NM_001407113.1:c.75A>G, NR_176283.1:n.75A>G, XR_943450.4:n.280A>G, XR_943452.4:n.253A>G, XM_011536773.4:c.102A>G, XM_011536773.3:c.102A>G, XM_011536773.2:c.102A>G, XM_011536773.1:c.102A>G, XR_007064012.1:n.253A>G, NR_045122.1:n.361T>C, NM_145116.1:c.102A>G

                                    18.

                                    rs866762160 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C,T [Show Flanks]
                                      Chromosome:
                                      14:65093740 (GRCh38)
                                      14:65560458 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:65093739:G:A,NC_000014.9:65093739:G:C,NC_000014.9:65093739:G:T
                                      Gene:
                                      MAX (Varview), LOC100506321 (Varview)
                                      Functional Consequence:
                                      missense_variant,5_prime_UTR_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                      Clinical significance:
                                      uncertain-significance
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.00001/1 (PAGE_STUDY)
                                      HGVS:
                                      NC_000014.9:g.65093740G>A, NC_000014.9:g.65093740G>C, NC_000014.9:g.65093740G>T, NC_000014.8:g.65560458G>A, NC_000014.8:g.65560458G>C, NC_000014.8:g.65560458G>T, NG_029830.1:g.13770C>T, NG_029830.1:g.13770C>G, NG_029830.1:g.13770C>A, NM_002382.5:c.139C>T, NM_002382.5:c.139C>G, NM_002382.5:c.139C>A, NM_002382.4:c.139C>T, NM_002382.4:c.139C>G, NM_002382.4:c.139C>A, NM_197957.4:c.139C>T, NM_197957.4:c.139C>G, NM_197957.4:c.139C>A, NM_197957.3:c.139C>T, NM_197957.3:c.139C>G, NM_197957.3:c.139C>A, NM_145113.3:c.139C>T, NM_145113.3:c.139C>G, NM_145113.3:c.139C>A, NM_145113.2:c.139C>T, NM_145113.2:c.139C>G, NM_145113.2:c.139C>A, NM_145112.3:c.112C>T, NM_145112.3:c.112C>G, NM_145112.3:c.112C>A, NM_145112.2:c.112C>T, NM_145112.2:c.112C>G, NM_145112.2:c.112C>A, NM_145114.3:c.139C>T, NM_145114.3:c.139C>G, NM_145114.3:c.139C>A, NM_145114.2:c.139C>T, NM_145114.2:c.139C>G, NM_145114.2:c.139C>A, NM_001320415.2:c.-136C>T, NM_001320415.2:c.-136C>G, NM_001320415.2:c.-136C>A, NM_001320415.1:c.-136C>T, NM_001320415.1:c.-136C>G, NM_001320415.1:c.-136C>A, NR_073137.2:n.263C>T, NR_073137.2:n.263C>G, NR_073137.2:n.263C>A, NR_073137.1:n.263C>T, NR_073137.1:n.263C>G, NR_073137.1:n.263C>A, NM_001271068.2:c.112C>T, NM_001271068.2:c.112C>G, NM_001271068.2:c.112C>A, NM_001271068.1:c.112C>T, NM_001271068.1:c.112C>G, NM_001271068.1:c.112C>A, NR_073138.2:n.85C>T, NR_073138.2:n.85C>G, NR_073138.2:n.85C>A, NR_073138.1:n.263C>T, NR_073138.1:n.263C>G, NR_073138.1:n.263C>A, NM_001271069.2:c.112C>T, NM_001271069.2:c.112C>G, NM_001271069.2:c.112C>A, NM_001271069.1:c.112C>T, NM_001271069.1:c.112C>G, NM_001271069.1:c.112C>A, NM_001407097.1:c.139C>T, NM_001407097.1:c.139C>G, NM_001407097.1:c.139C>A, NM_001407096.1:c.139C>T, NM_001407096.1:c.139C>G, NM_001407096.1:c.139C>A, NM_001407100.1:c.112C>T, NM_001407100.1:c.112C>G, NM_001407100.1:c.112C>A, NR_176281.1:n.281C>T, NR_176281.1:n.281C>G, NR_176281.1:n.281C>A, NM_001407099.1:c.112C>T, NM_001407099.1:c.112C>G, NM_001407099.1:c.112C>A, NM_001407111.1:c.-229C>T, NM_001407111.1:c.-229C>G, NM_001407111.1:c.-229C>A, NM_001407109.1:c.112C>T, NM_001407109.1:c.112C>G, NM_001407109.1:c.112C>A, NR_176275.1:n.281C>T, NR_176275.1:n.281C>G, NR_176275.1:n.281C>A, NM_001407108.1:c.112C>T, NM_001407108.1:c.112C>G, NM_001407108.1:c.112C>A, NM_001407105.1:c.-136C>T, NM_001407105.1:c.-136C>G, NM_001407105.1:c.-136C>A, NM_001407101.1:c.112C>T, NM_001407101.1:c.112C>G, NM_001407101.1:c.112C>A, NR_176279.1:n.215C>T, NR_176279.1:n.215C>G, NR_176279.1:n.215C>A, NM_001407102.1:c.112C>T, NM_001407102.1:c.112C>G, NM_001407102.1:c.112C>A, NR_176280.1:n.281C>T, NR_176280.1:n.281C>G, NR_176280.1:n.281C>A, NM_001407103.1:c.139C>T, NM_001407103.1:c.139C>G, NM_001407103.1:c.139C>A, NM_001407104.1:c.139C>T, NM_001407104.1:c.139C>G, NM_001407104.1:c.139C>A, NM_001407112.1:c.-229C>T, NM_001407112.1:c.-229C>G, NM_001407112.1:c.-229C>A, NM_001407110.1:c.112C>T, NM_001407110.1:c.112C>G, NM_001407110.1:c.112C>A, NM_001407107.1:c.-136C>T, NM_001407107.1:c.-136C>G, NM_001407107.1:c.-136C>A, NM_001407106.1:c.-136C>T, NM_001407106.1:c.-136C>G, NM_001407106.1:c.-136C>A, NR_176282.1:n.85C>T, NR_176282.1:n.85C>G, NR_176282.1:n.85C>A, NM_001407094.1:c.139C>T, NM_001407094.1:c.139C>G, NM_001407094.1:c.139C>A, NM_001407095.1:c.112C>T, NM_001407095.1:c.112C>G, NM_001407095.1:c.112C>A, NR_176278.1:n.112C>T, NR_176278.1:n.112C>G, NR_176278.1:n.112C>A, NR_176276.1:n.281C>T, NR_176276.1:n.281C>G, NR_176276.1:n.281C>A, NR_176277.1:n.254C>T, NR_176277.1:n.254C>G, NR_176277.1:n.254C>A, NM_001407114.1:c.162C>T, NM_001407114.1:c.162C>G, NM_001407114.1:c.162C>A, NM_001407113.1:c.112C>T, NM_001407113.1:c.112C>G, NM_001407113.1:c.112C>A, NR_176283.1:n.112C>T, NR_176283.1:n.112C>G, NR_176283.1:n.112C>A, XR_943450.4:n.317C>T, XR_943450.4:n.317C>G, XR_943450.4:n.317C>A, XR_943452.4:n.290C>T, XR_943452.4:n.290C>G, XR_943452.4:n.290C>A, XM_011536773.4:c.139C>T, XM_011536773.4:c.139C>G, XM_011536773.4:c.139C>A, XM_011536773.3:c.139C>T, XM_011536773.3:c.139C>G, XM_011536773.3:c.139C>A, XM_011536773.2:c.139C>T, XM_011536773.2:c.139C>G, XM_011536773.2:c.139C>A, XM_011536773.1:c.139C>T, XM_011536773.1:c.139C>G, XM_011536773.1:c.139C>A, XR_007064012.1:n.290C>T, XR_007064012.1:n.290C>G, XR_007064012.1:n.290C>A, NR_045122.1:n.324G>A, NR_045122.1:n.324G>C, NR_045122.1:n.324G>T, NM_145116.1:c.139C>T, NM_145116.1:c.139C>G, NM_145116.1:c.139C>A, NP_002373.3:p.Arg47Trp, NP_002373.3:p.Arg47Gly, NP_932061.1:p.Arg47Trp, NP_932061.1:p.Arg47Gly, NP_660088.1:p.Arg47Trp, NP_660088.1:p.Arg47Gly, NP_660087.1:p.Arg38Trp, NP_660087.1:p.Arg38Gly, NP_660089.1:p.Arg47Trp, NP_660089.1:p.Arg47Gly, NP_001257997.1:p.Arg38Trp, NP_001257997.1:p.Arg38Gly, NP_001257998.1:p.Arg38Trp, NP_001257998.1:p.Arg38Gly, XP_011535075.1:p.Arg47Trp, XP_011535075.1:p.Arg47Gly

                                      19.

                                      rs781741722 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        14:65006245 (GRCh38)
                                        14:65472963 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:65006244:A:G
                                        Gene:
                                        FNTB (Varview), MAX (Varview), CHURC1-FNTB (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        G=0.000008/1 (ExAC)
                                        HGVS:

                                        20.

                                        rs780865640 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          14:65093746 (GRCh38)
                                          14:65560464 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:65093745:T:C
                                          Gene:
                                          MAX (Varview), LOC100506321 (Varview)
                                          Functional Consequence:
                                          missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000008/1 (ExAC)
                                          C=0.000008/2 (GnomAD_exomes)
                                          C=0.000008/2 (TOPMED)
                                          C=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000014.9:g.65093746T>C, NC_000014.8:g.65560464T>C, NG_029830.1:g.13764A>G, NM_002382.5:c.133A>G, NM_002382.4:c.133A>G, NM_197957.4:c.133A>G, NM_197957.3:c.133A>G, NM_145113.3:c.133A>G, NM_145113.2:c.133A>G, NM_145112.3:c.106A>G, NM_145112.2:c.106A>G, NM_145114.3:c.133A>G, NM_145114.2:c.133A>G, NM_001320415.2:c.-142A>G, NM_001320415.1:c.-142A>G, NR_073137.2:n.257A>G, NR_073137.1:n.257A>G, NM_001271068.2:c.106A>G, NM_001271068.1:c.106A>G, NR_073138.2:n.79A>G, NR_073138.1:n.257A>G, NM_001271069.2:c.106A>G, NM_001271069.1:c.106A>G, NM_001407097.1:c.133A>G, NM_001407096.1:c.133A>G, NM_001407100.1:c.106A>G, NR_176281.1:n.275A>G, NM_001407099.1:c.106A>G, NM_001407111.1:c.-235A>G, NM_001407109.1:c.106A>G, NR_176275.1:n.275A>G, NM_001407108.1:c.106A>G, NM_001407105.1:c.-142A>G, NM_001407101.1:c.106A>G, NR_176279.1:n.209A>G, NM_001407102.1:c.106A>G, NR_176280.1:n.275A>G, NM_001407103.1:c.133A>G, NM_001407104.1:c.133A>G, NM_001407112.1:c.-235A>G, NM_001407110.1:c.106A>G, NM_001407107.1:c.-142A>G, NM_001407106.1:c.-142A>G, NR_176282.1:n.79A>G, NM_001407094.1:c.133A>G, NM_001407095.1:c.106A>G, NR_176278.1:n.106A>G, NR_176276.1:n.275A>G, NR_176277.1:n.248A>G, NM_001407114.1:c.156A>G, NM_001407113.1:c.106A>G, NR_176283.1:n.106A>G, XR_943450.4:n.311A>G, XR_943452.4:n.284A>G, XM_011536773.4:c.133A>G, XM_011536773.3:c.133A>G, XM_011536773.2:c.133A>G, XM_011536773.1:c.133A>G, XR_007064012.1:n.284A>G, NR_045122.1:n.330T>C, NM_145116.1:c.133A>G, NP_002373.3:p.Ser45Gly, NP_932061.1:p.Ser45Gly, NP_660088.1:p.Ser45Gly, NP_660087.1:p.Ser36Gly, NP_660089.1:p.Ser45Gly, NP_001257997.1:p.Ser36Gly, NP_001257998.1:p.Ser36Gly, XP_011535075.1:p.Ser45Gly

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