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Items: 1 to 20 of 290

1.

rs1489214050 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    8:61643424 (GRCh38)
    8:62555983 (GRCh37)
    Canonical SPDI:
    NC_000008.11:61643423:T:C
    Gene:
    ASPH (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    C=0.000004/1 (TOPMED)
    HGVS:
    NC_000008.11:g.61643424T>C, NC_000008.10:g.62555983T>C, NG_013210.1:g.76217A>G, NM_032468.5:c.677A>G, NM_032468.4:c.677A>G, NM_004318.4:c.719A>G, NM_004318.3:c.719A>G, NM_032466.4:c.719A>G, NM_032466.3:c.719A>G, NM_001164750.2:c.632A>G, NM_001164750.1:c.632A>G, NM_001164754.2:c.662A>G, NM_001164754.1:c.662A>G, NM_001164755.2:c.590A>G, NM_001164755.1:c.590A>G, NM_001164751.2:c.677A>G, NM_001164751.1:c.677A>G, NM_001164752.2:c.620A>G, NM_001164752.1:c.620A>G, NM_001164753.2:c.548A>G, NM_001164753.1:c.548A>G, XM_005251242.4:c.662A>G, XM_005251242.3:c.662A>G, XM_005251242.2:c.662A>G, XM_005251242.1:c.662A>G, XM_005251246.4:c.590A>G, XM_005251246.3:c.590A>G, XM_005251246.2:c.590A>G, XM_005251246.1:c.590A>G, XM_017013422.3:c.719A>G, XM_017013422.2:c.719A>G, XM_017013422.1:c.719A>G, XM_005251235.3:c.764A>G, XM_005251235.2:c.764A>G, XM_005251235.1:c.764A>G, XM_005251236.3:c.764A>G, XM_005251236.2:c.764A>G, XM_005251236.1:c.764A>G, XM_017013428.3:c.662A>G, XM_017013428.2:c.662A>G, XM_017013428.1:c.662A>G, XM_017013429.3:c.719A>G, XM_017013429.2:c.719A>G, XM_017013429.1:c.719A>G, XM_005251239.3:c.707A>G, XM_005251239.2:c.707A>G, XM_005251239.1:c.707A>G, XM_017013437.3:c.590A>G, XM_017013437.2:c.590A>G, XM_017013437.1:c.590A>G, XM_005251243.3:c.635A>G, XM_005251243.2:c.635A>G, XM_005251243.1:c.635A>G, XM_005251247.3:c.578A>G, XM_005251247.2:c.578A>G, XM_005251247.1:c.578A>G, XM_017013419.2:c.764A>G, XM_017013419.1:c.764A>G, XM_017013420.2:c.764A>G, XM_017013420.1:c.764A>G, XM_017013430.2:c.635A>G, XM_017013430.1:c.635A>G, XM_017013434.2:c.707A>G, XM_017013434.1:c.707A>G, XM_017013426.2:c.677A>G, XM_017013426.1:c.677A>G, XM_017013427.2:c.677A>G, XM_017013427.1:c.677A>G, XM_017013438.2:c.635A>G, XM_017013438.1:c.635A>G, XM_017013431.2:c.632A>G, XM_017013431.1:c.632A>G, XM_017013435.2:c.620A>G, XM_017013435.1:c.620A>G, XM_005251240.2:c.677A>G, XM_005251240.1:c.677A>G, XM_017013440.2:c.548A>G, XM_017013440.1:c.548A>G, XM_017013439.2:c.632A>G, XM_017013439.1:c.632A>G, XM_005251244.2:c.620A>G, XM_005251244.1:c.620A>G, XM_017013444.2:c.503A>G, XM_017013444.1:c.503A>G, XM_017013445.2:c.632A>G, XM_017013445.1:c.632A>G, XM_017013446.2:c.575A>G, XM_017013446.1:c.575A>G, XM_017013447.2:c.503A>G, XM_017013447.1:c.503A>G, XM_024447157.2:c.719A>G, XM_024447157.1:c.719A>G, XM_024447158.2:c.632A>G, XM_024447158.1:c.632A>G, XM_047421785.1:c.764A>G, XM_047421786.1:c.764A>G, XM_047421788.1:c.719A>G, XM_047421789.1:c.662A>G, XM_047421790.1:c.590A>G, XM_047421791.1:c.575A>G, XM_047421792.1:c.662A>G, XM_047421793.1:c.590A>G, NP_115857.1:p.Glu226Gly, NP_004309.2:p.Glu240Gly, NP_115855.1:p.Glu240Gly, NP_001158222.1:p.Glu211Gly, NP_001158226.1:p.Glu221Gly, NP_001158227.1:p.Glu197Gly, NP_001158223.1:p.Glu226Gly, NP_001158224.1:p.Glu207Gly, NP_001158225.1:p.Glu183Gly, XP_005251299.1:p.Glu221Gly, XP_005251303.1:p.Glu197Gly, XP_016868911.1:p.Glu240Gly, XP_005251292.1:p.Glu255Gly, XP_005251293.1:p.Glu255Gly, XP_016868917.1:p.Glu221Gly, XP_016868918.1:p.Glu240Gly, XP_005251296.1:p.Glu236Gly, XP_016868926.1:p.Glu197Gly, XP_005251300.1:p.Glu212Gly, XP_005251304.1:p.Glu193Gly, XP_016868908.1:p.Glu255Gly, XP_016868909.1:p.Glu255Gly, XP_016868919.1:p.Glu212Gly, XP_016868923.1:p.Glu236Gly, XP_016868915.1:p.Glu226Gly, XP_016868916.1:p.Glu226Gly, XP_016868927.1:p.Glu212Gly, XP_016868920.1:p.Glu211Gly, XP_016868924.1:p.Glu207Gly, XP_005251297.1:p.Glu226Gly, XP_016868929.1:p.Glu183Gly, XP_016868928.1:p.Glu211Gly, XP_005251301.1:p.Glu207Gly, XP_016868933.1:p.Glu168Gly, XP_016868934.1:p.Glu211Gly, XP_016868935.1:p.Glu192Gly, XP_016868936.1:p.Glu168Gly, XP_024302925.1:p.Glu240Gly, XP_024302926.1:p.Glu211Gly, XP_047277741.1:p.Glu255Gly, XP_047277742.1:p.Glu255Gly, XP_047277744.1:p.Glu240Gly, XP_047277745.1:p.Glu221Gly, XP_047277746.1:p.Glu197Gly, XP_047277747.1:p.Glu192Gly, XP_047277748.1:p.Glu221Gly, XP_047277749.1:p.Glu197Gly

    2.

    rs1488054790 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      8:61638338 (GRCh38)
      8:62550897 (GRCh37)
      Canonical SPDI:
      NC_000008.11:61638337:T:A
      Gene:
      ASPH (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      HGVS:
      NC_000008.11:g.61638338T>A, NC_000008.10:g.62550897T>A, NG_013210.1:g.81303A>T, NM_032468.5:c.774A>T, NM_032468.4:c.774A>T, NM_004318.4:c.816A>T, NM_004318.3:c.816A>T, NM_032466.4:c.816A>T, NM_032466.3:c.816A>T, NM_001164750.2:c.729A>T, NM_001164750.1:c.729A>T, NM_001164754.2:c.759A>T, NM_001164754.1:c.759A>T, NM_001164755.2:c.687A>T, NM_001164755.1:c.687A>T, NM_001164751.2:c.771A>T, NM_001164751.1:c.771A>T, NM_001164752.2:c.714A>T, NM_001164752.1:c.714A>T, NM_001164753.2:c.645A>T, NM_001164753.1:c.645A>T, XM_005251242.4:c.759A>T, XM_005251242.3:c.759A>T, XM_005251242.2:c.759A>T, XM_005251242.1:c.759A>T, XM_005251246.4:c.687A>T, XM_005251246.3:c.687A>T, XM_005251246.2:c.687A>T, XM_005251246.1:c.687A>T, XM_017013422.3:c.816A>T, XM_017013422.2:c.816A>T, XM_017013422.1:c.816A>T, XM_005251235.3:c.861A>T, XM_005251235.2:c.861A>T, XM_005251235.1:c.861A>T, XM_005251236.3:c.858A>T, XM_005251236.2:c.858A>T, XM_005251236.1:c.858A>T, XM_017013428.3:c.759A>T, XM_017013428.2:c.759A>T, XM_017013428.1:c.759A>T, XM_017013429.3:c.813A>T, XM_017013429.2:c.813A>T, XM_017013429.1:c.813A>T, XM_005251239.3:c.804A>T, XM_005251239.2:c.804A>T, XM_005251239.1:c.804A>T, XM_017013437.3:c.687A>T, XM_017013437.2:c.687A>T, XM_017013437.1:c.687A>T, XM_005251243.3:c.732A>T, XM_005251243.2:c.732A>T, XM_005251243.1:c.732A>T, XM_005251247.3:c.675A>T, XM_005251247.2:c.675A>T, XM_005251247.1:c.675A>T, XM_017013419.2:c.861A>T, XM_017013419.1:c.861A>T, XM_017013420.2:c.858A>T, XM_017013420.1:c.858A>T, XM_017013430.2:c.732A>T, XM_017013430.1:c.732A>T, XM_017013434.2:c.801A>T, XM_017013434.1:c.801A>T, XM_017013426.2:c.774A>T, XM_017013426.1:c.774A>T, XM_017013427.2:c.771A>T, XM_017013427.1:c.771A>T, XM_017013438.2:c.729A>T, XM_017013438.1:c.729A>T, XM_017013431.2:c.729A>T, XM_017013431.1:c.729A>T, XM_017013435.2:c.714A>T, XM_017013435.1:c.714A>T, XM_005251240.2:c.774A>T, XM_005251240.1:c.774A>T, XM_017013440.2:c.645A>T, XM_017013440.1:c.645A>T, XM_017013439.2:c.726A>T, XM_017013439.1:c.726A>T, XM_005251244.2:c.714A>T, XM_005251244.1:c.714A>T, XM_017013444.2:c.600A>T, XM_017013444.1:c.600A>T, XM_017013445.2:c.729A>T, XM_017013445.1:c.729A>T, XM_017013446.2:c.672A>T, XM_017013446.1:c.672A>T, XM_017013447.2:c.600A>T, XM_017013447.1:c.600A>T, XM_024447157.2:c.816A>T, XM_024447157.1:c.816A>T, XM_024447158.2:c.729A>T, XM_024447158.1:c.729A>T, XM_047421786.1:c.861A>T, XM_047421788.1:c.816A>T, XM_047421789.1:c.756A>T, XM_047421790.1:c.684A>T, XM_047421791.1:c.672A>T, XM_047421792.1:c.759A>T, XM_047421793.1:c.687A>T, NP_115857.1:p.Glu258Asp, NP_004309.2:p.Glu272Asp, NP_115855.1:p.Glu272Asp, NP_001158222.1:p.Glu243Asp, NP_001158226.1:p.Glu253Asp, NP_001158227.1:p.Glu229Asp, NP_001158223.1:p.Glu257Asp, NP_001158224.1:p.Glu238Asp, NP_001158225.1:p.Glu215Asp, XP_005251299.1:p.Glu253Asp, XP_005251303.1:p.Glu229Asp, XP_016868911.1:p.Glu272Asp, XP_005251292.1:p.Glu287Asp, XP_005251293.1:p.Glu286Asp, XP_016868917.1:p.Glu253Asp, XP_016868918.1:p.Glu271Asp, XP_005251296.1:p.Glu268Asp, XP_016868926.1:p.Glu229Asp, XP_005251300.1:p.Glu244Asp, XP_005251304.1:p.Glu225Asp, XP_016868908.1:p.Glu287Asp, XP_016868909.1:p.Glu286Asp, XP_016868919.1:p.Glu244Asp, XP_016868923.1:p.Glu267Asp, XP_016868915.1:p.Glu258Asp, XP_016868916.1:p.Glu257Asp, XP_016868927.1:p.Glu243Asp, XP_016868920.1:p.Glu243Asp, XP_016868924.1:p.Glu238Asp, XP_005251297.1:p.Glu258Asp, XP_016868929.1:p.Glu215Asp, XP_016868928.1:p.Glu242Asp, XP_005251301.1:p.Glu238Asp, XP_016868933.1:p.Glu200Asp, XP_016868934.1:p.Glu243Asp, XP_016868935.1:p.Glu224Asp, XP_016868936.1:p.Glu200Asp, XP_024302925.1:p.Glu272Asp, XP_024302926.1:p.Glu243Asp, XP_047277742.1:p.Glu287Asp, XP_047277744.1:p.Glu272Asp, XP_047277745.1:p.Glu252Asp, XP_047277746.1:p.Glu228Asp, XP_047277747.1:p.Glu224Asp, XP_047277748.1:p.Glu253Asp, XP_047277749.1:p.Glu229Asp

      3.

      rs1487695279 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C,G [Show Flanks]
        Chromosome:
        8:61638350 (GRCh38)
        8:62550909 (GRCh37)
        Canonical SPDI:
        NC_000008.11:61638349:A:C,NC_000008.11:61638349:A:G
        Gene:
        ASPH (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000028/1 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000008.11:g.61638350A>C, NC_000008.11:g.61638350A>G, NC_000008.10:g.62550909A>C, NC_000008.10:g.62550909A>G, NG_013210.1:g.81291T>G, NG_013210.1:g.81291T>C, NM_032468.5:c.762T>G, NM_032468.5:c.762T>C, NM_032468.4:c.762T>G, NM_032468.4:c.762T>C, NM_004318.4:c.804T>G, NM_004318.4:c.804T>C, NM_004318.3:c.804T>G, NM_004318.3:c.804T>C, NM_032466.4:c.804T>G, NM_032466.4:c.804T>C, NM_032466.3:c.804T>G, NM_032466.3:c.804T>C, NM_001164750.2:c.717T>G, NM_001164750.2:c.717T>C, NM_001164750.1:c.717T>G, NM_001164750.1:c.717T>C, NM_001164754.2:c.747T>G, NM_001164754.2:c.747T>C, NM_001164754.1:c.747T>G, NM_001164754.1:c.747T>C, NM_001164755.2:c.675T>G, NM_001164755.2:c.675T>C, NM_001164755.1:c.675T>G, NM_001164755.1:c.675T>C, NM_001164751.2:c.759T>G, NM_001164751.2:c.759T>C, NM_001164751.1:c.759T>G, NM_001164751.1:c.759T>C, NM_001164752.2:c.702T>G, NM_001164752.2:c.702T>C, NM_001164752.1:c.702T>G, NM_001164752.1:c.702T>C, NM_001164753.2:c.633T>G, NM_001164753.2:c.633T>C, NM_001164753.1:c.633T>G, NM_001164753.1:c.633T>C, XM_005251242.4:c.747T>G, XM_005251242.4:c.747T>C, XM_005251242.3:c.747T>G, XM_005251242.3:c.747T>C, XM_005251242.2:c.747T>G, XM_005251242.2:c.747T>C, XM_005251242.1:c.747T>G, XM_005251242.1:c.747T>C, XM_005251246.4:c.675T>G, XM_005251246.4:c.675T>C, XM_005251246.3:c.675T>G, XM_005251246.3:c.675T>C, XM_005251246.2:c.675T>G, XM_005251246.2:c.675T>C, XM_005251246.1:c.675T>G, XM_005251246.1:c.675T>C, XM_017013422.3:c.804T>G, XM_017013422.3:c.804T>C, XM_017013422.2:c.804T>G, XM_017013422.2:c.804T>C, XM_017013422.1:c.804T>G, XM_017013422.1:c.804T>C, XM_005251235.3:c.849T>G, XM_005251235.3:c.849T>C, XM_005251235.2:c.849T>G, XM_005251235.2:c.849T>C, XM_005251235.1:c.849T>G, XM_005251235.1:c.849T>C, XM_005251236.3:c.846T>G, XM_005251236.3:c.846T>C, XM_005251236.2:c.846T>G, XM_005251236.2:c.846T>C, XM_005251236.1:c.846T>G, XM_005251236.1:c.846T>C, XM_017013428.3:c.747T>G, XM_017013428.3:c.747T>C, XM_017013428.2:c.747T>G, XM_017013428.2:c.747T>C, XM_017013428.1:c.747T>G, XM_017013428.1:c.747T>C, XM_017013429.3:c.801T>G, XM_017013429.3:c.801T>C, XM_017013429.2:c.801T>G, XM_017013429.2:c.801T>C, XM_017013429.1:c.801T>G, XM_017013429.1:c.801T>C, XM_005251239.3:c.792T>G, XM_005251239.3:c.792T>C, XM_005251239.2:c.792T>G, XM_005251239.2:c.792T>C, XM_005251239.1:c.792T>G, XM_005251239.1:c.792T>C, XM_017013437.3:c.675T>G, XM_017013437.3:c.675T>C, XM_017013437.2:c.675T>G, XM_017013437.2:c.675T>C, XM_017013437.1:c.675T>G, XM_017013437.1:c.675T>C, XM_005251243.3:c.720T>G, XM_005251243.3:c.720T>C, XM_005251243.2:c.720T>G, XM_005251243.2:c.720T>C, XM_005251243.1:c.720T>G, XM_005251243.1:c.720T>C, XM_005251247.3:c.663T>G, XM_005251247.3:c.663T>C, XM_005251247.2:c.663T>G, XM_005251247.2:c.663T>C, XM_005251247.1:c.663T>G, XM_005251247.1:c.663T>C, XM_017013419.2:c.849T>G, XM_017013419.2:c.849T>C, XM_017013419.1:c.849T>G, XM_017013419.1:c.849T>C, XM_017013420.2:c.846T>G, XM_017013420.2:c.846T>C, XM_017013420.1:c.846T>G, XM_017013420.1:c.846T>C, XM_017013430.2:c.720T>G, XM_017013430.2:c.720T>C, XM_017013430.1:c.720T>G, XM_017013430.1:c.720T>C, XM_017013434.2:c.789T>G, XM_017013434.2:c.789T>C, XM_017013434.1:c.789T>G, XM_017013434.1:c.789T>C, XM_017013426.2:c.762T>G, XM_017013426.2:c.762T>C, XM_017013426.1:c.762T>G, XM_017013426.1:c.762T>C, XM_017013427.2:c.759T>G, XM_017013427.2:c.759T>C, XM_017013427.1:c.759T>G, XM_017013427.1:c.759T>C, XM_017013438.2:c.717T>G, XM_017013438.2:c.717T>C, XM_017013438.1:c.717T>G, XM_017013438.1:c.717T>C, XM_017013431.2:c.717T>G, XM_017013431.2:c.717T>C, XM_017013431.1:c.717T>G, XM_017013431.1:c.717T>C, XM_017013435.2:c.702T>G, XM_017013435.2:c.702T>C, XM_017013435.1:c.702T>G, XM_017013435.1:c.702T>C, XM_005251240.2:c.762T>G, XM_005251240.2:c.762T>C, XM_005251240.1:c.762T>G, XM_005251240.1:c.762T>C, XM_017013440.2:c.633T>G, XM_017013440.2:c.633T>C, XM_017013440.1:c.633T>G, XM_017013440.1:c.633T>C, XM_017013439.2:c.714T>G, XM_017013439.2:c.714T>C, XM_017013439.1:c.714T>G, XM_017013439.1:c.714T>C, XM_005251244.2:c.702T>G, XM_005251244.2:c.702T>C, XM_005251244.1:c.702T>G, XM_005251244.1:c.702T>C, XM_017013444.2:c.588T>G, XM_017013444.2:c.588T>C, XM_017013444.1:c.588T>G, XM_017013444.1:c.588T>C, XM_017013445.2:c.717T>G, XM_017013445.2:c.717T>C, XM_017013445.1:c.717T>G, XM_017013445.1:c.717T>C, XM_017013446.2:c.660T>G, XM_017013446.2:c.660T>C, XM_017013446.1:c.660T>G, XM_017013446.1:c.660T>C, XM_017013447.2:c.588T>G, XM_017013447.2:c.588T>C, XM_017013447.1:c.588T>G, XM_017013447.1:c.588T>C, XM_024447157.2:c.804T>G, XM_024447157.2:c.804T>C, XM_024447157.1:c.804T>G, XM_024447157.1:c.804T>C, XM_024447158.2:c.717T>G, XM_024447158.2:c.717T>C, XM_024447158.1:c.717T>G, XM_024447158.1:c.717T>C, XM_047421786.1:c.849T>G, XM_047421786.1:c.849T>C, XM_047421788.1:c.804T>G, XM_047421788.1:c.804T>C, XM_047421789.1:c.744T>G, XM_047421789.1:c.744T>C, XM_047421790.1:c.672T>G, XM_047421790.1:c.672T>C, XM_047421791.1:c.660T>G, XM_047421791.1:c.660T>C, XM_047421792.1:c.747T>G, XM_047421792.1:c.747T>C, XM_047421793.1:c.675T>G, XM_047421793.1:c.675T>C

        4.

        rs1480559872 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          G>- [Show Flanks]
          Chromosome:
          8:61651086 (GRCh38)
          8:62563645 (GRCh37)
          Canonical SPDI:
          NC_000008.11:61651085:G:
          Gene:
          ASPH (Varview)
          Functional Consequence:
          frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          -=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000008.11:g.61651086del, NC_000008.10:g.62563645del, NG_013210.1:g.68555del, NM_032468.5:c.412del, NM_032468.4:c.412del, NM_004318.4:c.454del, NM_004318.3:c.454del, NM_032466.4:c.454del, NM_032466.3:c.454del, NM_001164750.2:c.367del, NM_001164750.1:c.367del, NM_001164754.2:c.454del, NM_001164754.1:c.454del, NM_001164755.2:c.454del, NM_001164755.1:c.454del, NM_001164751.2:c.412del, NM_001164751.1:c.412del, NM_001164752.2:c.412del, NM_001164752.1:c.412del, NM_001164753.2:c.412del, NM_001164753.1:c.412del, XM_005251242.4:c.454del, XM_005251242.3:c.454del, XM_005251242.2:c.454del, XM_005251242.1:c.454del, XM_005251246.4:c.454del, XM_005251246.3:c.454del, XM_005251246.2:c.454del, XM_005251246.1:c.454del, XM_017013422.3:c.454del, XM_017013422.2:c.454del, XM_017013422.1:c.454del, XM_005251235.3:c.499del, XM_005251235.2:c.499del, XM_005251235.1:c.499del, XM_005251236.3:c.499del, XM_005251236.2:c.499del, XM_005251236.1:c.499del, XM_017013428.3:c.454del, XM_017013428.2:c.454del, XM_017013428.1:c.454del, XM_017013429.3:c.454del, XM_017013429.2:c.454del, XM_017013429.1:c.454del, XM_005251239.3:c.499del, XM_005251239.2:c.499del, XM_005251239.1:c.499del, XM_017013437.3:c.454del, XM_017013437.2:c.454del, XM_017013437.1:c.454del, XM_005251243.3:c.499del, XM_005251243.2:c.499del, XM_005251243.1:c.499del, XM_005251247.3:c.499del, XM_005251247.2:c.499del, XM_005251247.1:c.499del, XM_017013419.2:c.499del, XM_017013419.1:c.499del, XM_017013420.2:c.499del, XM_017013420.1:c.499del, XM_017013430.2:c.499del, XM_017013430.1:c.499del, XM_017013434.2:c.499del, XM_017013434.1:c.499del, XM_017013426.2:c.412del, XM_017013426.1:c.412del, XM_017013427.2:c.412del, XM_017013427.1:c.412del, XM_017013438.2:c.499del, XM_017013438.1:c.499del, XM_017013431.2:c.367del, XM_017013431.1:c.367del, XM_017013435.2:c.412del, XM_017013435.1:c.412del, XM_005251240.2:c.412del, XM_005251240.1:c.412del, XM_017013440.2:c.412del, XM_017013440.1:c.412del, XM_017013439.2:c.367del, XM_017013439.1:c.367del, XM_005251244.2:c.412del, XM_005251244.1:c.412del, XM_017013444.2:c.367del, XM_017013444.1:c.367del, XM_017013445.2:c.367del, XM_017013445.1:c.367del, XM_017013446.2:c.367del, XM_017013446.1:c.367del, XM_017013447.2:c.367del, XM_017013447.1:c.367del, XM_024447157.2:c.454del, XM_024447157.1:c.454del, XM_024447158.2:c.367del, XM_024447158.1:c.367del, XM_047421785.1:c.499del, XM_047421786.1:c.499del, XM_047421788.1:c.454del, XM_047421789.1:c.454del, XM_047421790.1:c.454del, XM_047421791.1:c.367del, XM_047421792.1:c.454del, XM_047421793.1:c.454del, NP_115857.1:p.Gln138fs, NP_004309.2:p.Gln152fs, NP_115855.1:p.Gln152fs, NP_001158222.1:p.Gln123fs, NP_001158226.1:p.Gln152fs, NP_001158227.1:p.Gln152fs, NP_001158223.1:p.Gln138fs, NP_001158224.1:p.Gln138fs, NP_001158225.1:p.Gln138fs, XP_005251299.1:p.Gln152fs, XP_005251303.1:p.Gln152fs, XP_016868911.1:p.Gln152fs, XP_005251292.1:p.Gln167fs, XP_005251293.1:p.Gln167fs, XP_016868917.1:p.Gln152fs, XP_016868918.1:p.Gln152fs, XP_005251296.1:p.Gln167fs, XP_016868926.1:p.Gln152fs, XP_005251300.1:p.Gln167fs, XP_005251304.1:p.Gln167fs, XP_016868908.1:p.Gln167fs, XP_016868909.1:p.Gln167fs, XP_016868919.1:p.Gln167fs, XP_016868923.1:p.Gln167fs, XP_016868915.1:p.Gln138fs, XP_016868916.1:p.Gln138fs, XP_016868927.1:p.Gln167fs, XP_016868920.1:p.Gln123fs, XP_016868924.1:p.Gln138fs, XP_005251297.1:p.Gln138fs, XP_016868929.1:p.Gln138fs, XP_016868928.1:p.Gln123fs, XP_005251301.1:p.Gln138fs, XP_016868933.1:p.Gln123fs, XP_016868934.1:p.Gln123fs, XP_016868935.1:p.Gln123fs, XP_016868936.1:p.Gln123fs, XP_024302925.1:p.Gln152fs, XP_024302926.1:p.Gln123fs, XP_047277741.1:p.Gln167fs, XP_047277742.1:p.Gln167fs, XP_047277744.1:p.Gln152fs, XP_047277745.1:p.Gln152fs, XP_047277746.1:p.Gln152fs, XP_047277747.1:p.Gln123fs, XP_047277748.1:p.Gln152fs, XP_047277749.1:p.Gln152fs

          5.

          rs1477784606 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,G,T [Show Flanks]
            Chromosome:
            8:61638001 (GRCh38)
            8:62550560 (GRCh37)
            Canonical SPDI:
            NC_000008.11:61638000:C:A,NC_000008.11:61638000:C:G,NC_000008.11:61638000:C:T
            Gene:
            ASPH (Varview)
            Functional Consequence:
            missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000043/1 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            NC_000008.11:g.61638001C>A, NC_000008.11:g.61638001C>G, NC_000008.11:g.61638001C>T, NC_000008.10:g.62550560C>A, NC_000008.10:g.62550560C>G, NC_000008.10:g.62550560C>T, NG_013210.1:g.81640G>T, NG_013210.1:g.81640G>C, NG_013210.1:g.81640G>A, NM_032468.5:c.793G>T, NM_032468.5:c.793G>C, NM_032468.5:c.793G>A, NM_032468.4:c.793G>T, NM_032468.4:c.793G>C, NM_032468.4:c.793G>A, NM_004318.4:c.835G>T, NM_004318.4:c.835G>C, NM_004318.4:c.835G>A, NM_004318.3:c.835G>T, NM_004318.3:c.835G>C, NM_004318.3:c.835G>A, NM_032466.4:c.835G>T, NM_032466.4:c.835G>C, NM_032466.4:c.835G>A, NM_032466.3:c.835G>T, NM_032466.3:c.835G>C, NM_032466.3:c.835G>A, NM_001164750.2:c.748G>T, NM_001164750.2:c.748G>C, NM_001164750.2:c.748G>A, NM_001164750.1:c.748G>T, NM_001164750.1:c.748G>C, NM_001164750.1:c.748G>A, NM_001164754.2:c.778G>T, NM_001164754.2:c.778G>C, NM_001164754.2:c.778G>A, NM_001164754.1:c.778G>T, NM_001164754.1:c.778G>C, NM_001164754.1:c.778G>A, NM_001164755.2:c.706G>T, NM_001164755.2:c.706G>C, NM_001164755.2:c.706G>A, NM_001164755.1:c.706G>T, NM_001164755.1:c.706G>C, NM_001164755.1:c.706G>A, NM_001164751.2:c.790G>T, NM_001164751.2:c.790G>C, NM_001164751.2:c.790G>A, NM_001164751.1:c.790G>T, NM_001164751.1:c.790G>C, NM_001164751.1:c.790G>A, NM_001164752.2:c.733G>T, NM_001164752.2:c.733G>C, NM_001164752.2:c.733G>A, NM_001164752.1:c.733G>T, NM_001164752.1:c.733G>C, NM_001164752.1:c.733G>A, NM_001164753.2:c.664G>T, NM_001164753.2:c.664G>C, NM_001164753.2:c.664G>A, NM_001164753.1:c.664G>T, NM_001164753.1:c.664G>C, NM_001164753.1:c.664G>A, XM_005251242.4:c.778G>T, XM_005251242.4:c.778G>C, XM_005251242.4:c.778G>A, XM_005251242.3:c.778G>T, XM_005251242.3:c.778G>C, XM_005251242.3:c.778G>A, XM_005251242.2:c.778G>T, XM_005251242.2:c.778G>C, XM_005251242.2:c.778G>A, XM_005251242.1:c.778G>T, XM_005251242.1:c.778G>C, XM_005251242.1:c.778G>A, XM_005251246.4:c.706G>T, XM_005251246.4:c.706G>C, XM_005251246.4:c.706G>A, XM_005251246.3:c.706G>T, XM_005251246.3:c.706G>C, XM_005251246.3:c.706G>A, XM_005251246.2:c.706G>T, XM_005251246.2:c.706G>C, XM_005251246.2:c.706G>A, XM_005251246.1:c.706G>T, XM_005251246.1:c.706G>C, XM_005251246.1:c.706G>A, XM_017013422.3:c.835G>T, XM_017013422.3:c.835G>C, XM_017013422.3:c.835G>A, XM_017013422.2:c.835G>T, XM_017013422.2:c.835G>C, XM_017013422.2:c.835G>A, XM_017013422.1:c.835G>T, XM_017013422.1:c.835G>C, XM_017013422.1:c.835G>A, XM_005251235.3:c.880G>T, XM_005251235.3:c.880G>C, XM_005251235.3:c.880G>A, XM_005251235.2:c.880G>T, XM_005251235.2:c.880G>C, XM_005251235.2:c.880G>A, XM_005251235.1:c.880G>T, XM_005251235.1:c.880G>C, XM_005251235.1:c.880G>A, XM_005251236.3:c.877G>T, XM_005251236.3:c.877G>C, XM_005251236.3:c.877G>A, XM_005251236.2:c.877G>T, XM_005251236.2:c.877G>C, XM_005251236.2:c.877G>A, XM_005251236.1:c.877G>T, XM_005251236.1:c.877G>C, XM_005251236.1:c.877G>A, XM_017013428.3:c.778G>T, XM_017013428.3:c.778G>C, XM_017013428.3:c.778G>A, XM_017013428.2:c.778G>T, XM_017013428.2:c.778G>C, XM_017013428.2:c.778G>A, XM_017013428.1:c.778G>T, XM_017013428.1:c.778G>C, XM_017013428.1:c.778G>A, XM_017013429.3:c.832G>T, XM_017013429.3:c.832G>C, XM_017013429.3:c.832G>A, XM_017013429.2:c.832G>T, XM_017013429.2:c.832G>C, XM_017013429.2:c.832G>A, XM_017013429.1:c.832G>T, XM_017013429.1:c.832G>C, XM_017013429.1:c.832G>A, XM_005251239.3:c.823G>T, XM_005251239.3:c.823G>C, XM_005251239.3:c.823G>A, XM_005251239.2:c.823G>T, XM_005251239.2:c.823G>C, XM_005251239.2:c.823G>A, XM_005251239.1:c.823G>T, XM_005251239.1:c.823G>C, XM_005251239.1:c.823G>A, XM_017013437.3:c.706G>T, XM_017013437.3:c.706G>C, XM_017013437.3:c.706G>A, XM_017013437.2:c.706G>T, XM_017013437.2:c.706G>C, XM_017013437.2:c.706G>A, XM_017013437.1:c.706G>T, XM_017013437.1:c.706G>C, XM_017013437.1:c.706G>A, XM_005251243.3:c.751G>T, XM_005251243.3:c.751G>C, XM_005251243.3:c.751G>A, XM_005251243.2:c.751G>T, XM_005251243.2:c.751G>C, XM_005251243.2:c.751G>A, XM_005251243.1:c.751G>T, XM_005251243.1:c.751G>C, XM_005251243.1:c.751G>A, XM_005251247.3:c.694G>T, XM_005251247.3:c.694G>C, XM_005251247.3:c.694G>A, XM_005251247.2:c.694G>T, XM_005251247.2:c.694G>C, XM_005251247.2:c.694G>A, XM_005251247.1:c.694G>T, XM_005251247.1:c.694G>C, XM_005251247.1:c.694G>A, XM_017013419.2:c.880G>T, XM_017013419.2:c.880G>C, XM_017013419.2:c.880G>A, XM_017013419.1:c.880G>T, XM_017013419.1:c.880G>C, XM_017013419.1:c.880G>A, XM_017013420.2:c.877G>T, XM_017013420.2:c.877G>C, XM_017013420.2:c.877G>A, XM_017013420.1:c.877G>T, XM_017013420.1:c.877G>C, XM_017013420.1:c.877G>A, XM_017013430.2:c.751G>T, XM_017013430.2:c.751G>C, XM_017013430.2:c.751G>A, XM_017013430.1:c.751G>T, XM_017013430.1:c.751G>C, XM_017013430.1:c.751G>A, XM_017013434.2:c.820G>T, XM_017013434.2:c.820G>C, XM_017013434.2:c.820G>A, XM_017013434.1:c.820G>T, XM_017013434.1:c.820G>C, XM_017013434.1:c.820G>A, XM_017013426.2:c.793G>T, XM_017013426.2:c.793G>C, XM_017013426.2:c.793G>A, XM_017013426.1:c.793G>T, XM_017013426.1:c.793G>C, XM_017013426.1:c.793G>A, XM_017013427.2:c.790G>T, XM_017013427.2:c.790G>C, XM_017013427.2:c.790G>A, XM_017013427.1:c.790G>T, XM_017013427.1:c.790G>C, XM_017013427.1:c.790G>A, XM_017013438.2:c.748G>T, XM_017013438.2:c.748G>C, XM_017013438.2:c.748G>A, XM_017013438.1:c.748G>T, XM_017013438.1:c.748G>C, XM_017013438.1:c.748G>A, XM_017013431.2:c.748G>T, XM_017013431.2:c.748G>C, XM_017013431.2:c.748G>A, XM_017013431.1:c.748G>T, XM_017013431.1:c.748G>C, XM_017013431.1:c.748G>A, XM_017013435.2:c.733G>T, XM_017013435.2:c.733G>C, XM_017013435.2:c.733G>A, XM_017013435.1:c.733G>T, XM_017013435.1:c.733G>C, XM_017013435.1:c.733G>A, XM_005251240.2:c.793G>T, XM_005251240.2:c.793G>C, XM_005251240.2:c.793G>A, XM_005251240.1:c.793G>T, XM_005251240.1:c.793G>C, XM_005251240.1:c.793G>A, XM_017013440.2:c.664G>T, XM_017013440.2:c.664G>C, XM_017013440.2:c.664G>A, XM_017013440.1:c.664G>T, XM_017013440.1:c.664G>C, XM_017013440.1:c.664G>A, XM_017013439.2:c.745G>T, XM_017013439.2:c.745G>C, XM_017013439.2:c.745G>A, XM_017013439.1:c.745G>T, XM_017013439.1:c.745G>C, XM_017013439.1:c.745G>A, XM_005251244.2:c.733G>T, XM_005251244.2:c.733G>C, XM_005251244.2:c.733G>A, XM_005251244.1:c.733G>T, XM_005251244.1:c.733G>C, XM_005251244.1:c.733G>A, XM_017013444.2:c.619G>T, XM_017013444.2:c.619G>C, XM_017013444.2:c.619G>A, XM_017013444.1:c.619G>T, XM_017013444.1:c.619G>C, XM_017013444.1:c.619G>A, XM_017013445.2:c.748G>T, XM_017013445.2:c.748G>C, XM_017013445.2:c.748G>A, XM_017013445.1:c.748G>T, XM_017013445.1:c.748G>C, XM_017013445.1:c.748G>A, XM_017013446.2:c.691G>T, XM_017013446.2:c.691G>C, XM_017013446.2:c.691G>A, XM_017013446.1:c.691G>T, XM_017013446.1:c.691G>C, XM_017013446.1:c.691G>A, XM_017013447.2:c.619G>T, XM_017013447.2:c.619G>C, XM_017013447.2:c.619G>A, XM_017013447.1:c.619G>T, XM_017013447.1:c.619G>C, XM_017013447.1:c.619G>A, XM_024447157.2:c.835G>T, XM_024447157.2:c.835G>C, XM_024447157.2:c.835G>A, XM_024447157.1:c.835G>T, XM_024447157.1:c.835G>C, XM_024447157.1:c.835G>A, XM_024447158.2:c.748G>T, XM_024447158.2:c.748G>C, XM_024447158.2:c.748G>A, XM_024447158.1:c.748G>T, XM_024447158.1:c.748G>C, XM_024447158.1:c.748G>A, XM_047421785.1:c.838G>T, XM_047421785.1:c.838G>C, XM_047421785.1:c.838G>A, XM_047421786.1:c.880G>T, XM_047421786.1:c.880G>C, XM_047421786.1:c.880G>A, XM_047421788.1:c.835G>T, XM_047421788.1:c.835G>C, XM_047421788.1:c.835G>A, XM_047421789.1:c.775G>T, XM_047421789.1:c.775G>C, XM_047421789.1:c.775G>A, XM_047421790.1:c.703G>T, XM_047421790.1:c.703G>C, XM_047421790.1:c.703G>A, XM_047421791.1:c.691G>T, XM_047421791.1:c.691G>C, XM_047421791.1:c.691G>A, XM_047421792.1:c.778G>T, XM_047421792.1:c.778G>C, XM_047421792.1:c.778G>A, XM_047421793.1:c.706G>T, XM_047421793.1:c.706G>C, XM_047421793.1:c.706G>A, NP_115857.1:p.Val265Leu, NP_115857.1:p.Val265Leu, NP_115857.1:p.Val265Ile, NP_004309.2:p.Val279Leu, NP_004309.2:p.Val279Leu, NP_004309.2:p.Val279Ile, NP_115855.1:p.Val279Leu, NP_115855.1:p.Val279Leu, NP_115855.1:p.Val279Ile, NP_001158222.1:p.Val250Leu, NP_001158222.1:p.Val250Leu, NP_001158222.1:p.Val250Ile, NP_001158226.1:p.Val260Leu, NP_001158226.1:p.Val260Leu, NP_001158226.1:p.Val260Ile, NP_001158227.1:p.Val236Leu, NP_001158227.1:p.Val236Leu, NP_001158227.1:p.Val236Ile, NP_001158223.1:p.Val264Leu, NP_001158223.1:p.Val264Leu, NP_001158223.1:p.Val264Ile, NP_001158224.1:p.Val245Leu, NP_001158224.1:p.Val245Leu, NP_001158224.1:p.Val245Ile, NP_001158225.1:p.Val222Leu, NP_001158225.1:p.Val222Leu, NP_001158225.1:p.Val222Ile, XP_005251299.1:p.Val260Leu, XP_005251299.1:p.Val260Leu, XP_005251299.1:p.Val260Ile, XP_005251303.1:p.Val236Leu, XP_005251303.1:p.Val236Leu, XP_005251303.1:p.Val236Ile, XP_016868911.1:p.Val279Leu, XP_016868911.1:p.Val279Leu, XP_016868911.1:p.Val279Ile, XP_005251292.1:p.Val294Leu, XP_005251292.1:p.Val294Leu, XP_005251292.1:p.Val294Ile, XP_005251293.1:p.Val293Leu, XP_005251293.1:p.Val293Leu, XP_005251293.1:p.Val293Ile, XP_016868917.1:p.Val260Leu, XP_016868917.1:p.Val260Leu, XP_016868917.1:p.Val260Ile, XP_016868918.1:p.Val278Leu, XP_016868918.1:p.Val278Leu, XP_016868918.1:p.Val278Ile, XP_005251296.1:p.Val275Leu, XP_005251296.1:p.Val275Leu, XP_005251296.1:p.Val275Ile, XP_016868926.1:p.Val236Leu, XP_016868926.1:p.Val236Leu, XP_016868926.1:p.Val236Ile, XP_005251300.1:p.Val251Leu, XP_005251300.1:p.Val251Leu, XP_005251300.1:p.Val251Ile, XP_005251304.1:p.Val232Leu, XP_005251304.1:p.Val232Leu, XP_005251304.1:p.Val232Ile, XP_016868908.1:p.Val294Leu, XP_016868908.1:p.Val294Leu, XP_016868908.1:p.Val294Ile, XP_016868909.1:p.Val293Leu, XP_016868909.1:p.Val293Leu, XP_016868909.1:p.Val293Ile, XP_016868919.1:p.Val251Leu, XP_016868919.1:p.Val251Leu, XP_016868919.1:p.Val251Ile, XP_016868923.1:p.Val274Leu, XP_016868923.1:p.Val274Leu, XP_016868923.1:p.Val274Ile, XP_016868915.1:p.Val265Leu, XP_016868915.1:p.Val265Leu, XP_016868915.1:p.Val265Ile, XP_016868916.1:p.Val264Leu, XP_016868916.1:p.Val264Leu, XP_016868916.1:p.Val264Ile, XP_016868927.1:p.Val250Leu, XP_016868927.1:p.Val250Leu, XP_016868927.1:p.Val250Ile, XP_016868920.1:p.Val250Leu, XP_016868920.1:p.Val250Leu, XP_016868920.1:p.Val250Ile, XP_016868924.1:p.Val245Leu, XP_016868924.1:p.Val245Leu, XP_016868924.1:p.Val245Ile, XP_005251297.1:p.Val265Leu, XP_005251297.1:p.Val265Leu, XP_005251297.1:p.Val265Ile, XP_016868929.1:p.Val222Leu, XP_016868929.1:p.Val222Leu, XP_016868929.1:p.Val222Ile, XP_016868928.1:p.Val249Leu, XP_016868928.1:p.Val249Leu, XP_016868928.1:p.Val249Ile, XP_005251301.1:p.Val245Leu, XP_005251301.1:p.Val245Leu, XP_005251301.1:p.Val245Ile, XP_016868933.1:p.Val207Leu, XP_016868933.1:p.Val207Leu, XP_016868933.1:p.Val207Ile, XP_016868934.1:p.Val250Leu, XP_016868934.1:p.Val250Leu, XP_016868934.1:p.Val250Ile, XP_016868935.1:p.Val231Leu, XP_016868935.1:p.Val231Leu, XP_016868935.1:p.Val231Ile, XP_016868936.1:p.Val207Leu, XP_016868936.1:p.Val207Leu, XP_016868936.1:p.Val207Ile, XP_024302925.1:p.Val279Leu, XP_024302925.1:p.Val279Leu, XP_024302925.1:p.Val279Ile, XP_024302926.1:p.Val250Leu, XP_024302926.1:p.Val250Leu, XP_024302926.1:p.Val250Ile, XP_047277741.1:p.Val280Leu, XP_047277741.1:p.Val280Leu, XP_047277741.1:p.Val280Ile, XP_047277742.1:p.Val294Leu, XP_047277742.1:p.Val294Leu, XP_047277742.1:p.Val294Ile, XP_047277744.1:p.Val279Leu, XP_047277744.1:p.Val279Leu, XP_047277744.1:p.Val279Ile, XP_047277745.1:p.Val259Leu, XP_047277745.1:p.Val259Leu, XP_047277745.1:p.Val259Ile, XP_047277746.1:p.Val235Leu, XP_047277746.1:p.Val235Leu, XP_047277746.1:p.Val235Ile, XP_047277747.1:p.Val231Leu, XP_047277747.1:p.Val231Leu, XP_047277747.1:p.Val231Ile, XP_047277748.1:p.Val260Leu, XP_047277748.1:p.Val260Leu, XP_047277748.1:p.Val260Ile, XP_047277749.1:p.Val236Leu, XP_047277749.1:p.Val236Leu, XP_047277749.1:p.Val236Ile

            6.

            rs1474039206 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              8:61646765 (GRCh38)
              8:62559324 (GRCh37)
              Canonical SPDI:
              NC_000008.11:61646764:C:A
              Gene:
              ASPH (Varview)
              Functional Consequence:
              stop_gained,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:
              NC_000008.11:g.61646765C>A, NC_000008.10:g.62559324C>A, NG_013210.1:g.72876G>T, NM_032468.5:c.562G>T, NM_032468.4:c.562G>T, NM_004318.4:c.604G>T, NM_004318.3:c.604G>T, NM_032466.4:c.604G>T, NM_032466.3:c.604G>T, NM_001164750.2:c.517G>T, NM_001164750.1:c.517G>T, NM_001164754.2:c.604G>T, NM_001164754.1:c.604G>T, NM_001164751.2:c.562G>T, NM_001164751.1:c.562G>T, NM_001164752.2:c.562G>T, NM_001164752.1:c.562G>T, XM_005251242.4:c.604G>T, XM_005251242.3:c.604G>T, XM_005251242.2:c.604G>T, XM_005251242.1:c.604G>T, XM_017013422.3:c.604G>T, XM_017013422.2:c.604G>T, XM_017013422.1:c.604G>T, XM_005251235.3:c.649G>T, XM_005251235.2:c.649G>T, XM_005251235.1:c.649G>T, XM_005251236.3:c.649G>T, XM_005251236.2:c.649G>T, XM_005251236.1:c.649G>T, XM_017013428.3:c.604G>T, XM_017013428.2:c.604G>T, XM_017013428.1:c.604G>T, XM_017013429.3:c.604G>T, XM_017013429.2:c.604G>T, XM_017013429.1:c.604G>T, XM_005251239.3:c.649G>T, XM_005251239.2:c.649G>T, XM_005251239.1:c.649G>T, XM_017013419.2:c.649G>T, XM_017013419.1:c.649G>T, XM_017013420.2:c.649G>T, XM_017013420.1:c.649G>T, XM_017013434.2:c.649G>T, XM_017013434.1:c.649G>T, XM_017013426.2:c.562G>T, XM_017013426.1:c.562G>T, XM_017013427.2:c.562G>T, XM_017013427.1:c.562G>T, XM_017013431.2:c.517G>T, XM_017013431.1:c.517G>T, XM_017013435.2:c.562G>T, XM_017013435.1:c.562G>T, XM_005251240.2:c.562G>T, XM_005251240.1:c.562G>T, XM_017013439.2:c.517G>T, XM_017013439.1:c.517G>T, XM_005251244.2:c.562G>T, XM_005251244.1:c.562G>T, XM_017013445.2:c.517G>T, XM_017013445.1:c.517G>T, XM_017013446.2:c.517G>T, XM_017013446.1:c.517G>T, XM_024447157.2:c.604G>T, XM_024447157.1:c.604G>T, XM_024447158.2:c.517G>T, XM_024447158.1:c.517G>T, XM_047421785.1:c.649G>T, XM_047421786.1:c.649G>T, XM_047421788.1:c.604G>T, XM_047421789.1:c.604G>T, XM_047421791.1:c.517G>T, XM_047421792.1:c.604G>T, NP_115857.1:p.Glu188Ter, NP_004309.2:p.Glu202Ter, NP_115855.1:p.Glu202Ter, NP_001158222.1:p.Glu173Ter, NP_001158226.1:p.Glu202Ter, NP_001158223.1:p.Glu188Ter, NP_001158224.1:p.Glu188Ter, XP_005251299.1:p.Glu202Ter, XP_016868911.1:p.Glu202Ter, XP_005251292.1:p.Glu217Ter, XP_005251293.1:p.Glu217Ter, XP_016868917.1:p.Glu202Ter, XP_016868918.1:p.Glu202Ter, XP_005251296.1:p.Glu217Ter, XP_016868908.1:p.Glu217Ter, XP_016868909.1:p.Glu217Ter, XP_016868923.1:p.Glu217Ter, XP_016868915.1:p.Glu188Ter, XP_016868916.1:p.Glu188Ter, XP_016868920.1:p.Glu173Ter, XP_016868924.1:p.Glu188Ter, XP_005251297.1:p.Glu188Ter, XP_016868928.1:p.Glu173Ter, XP_005251301.1:p.Glu188Ter, XP_016868934.1:p.Glu173Ter, XP_016868935.1:p.Glu173Ter, XP_024302925.1:p.Glu202Ter, XP_024302926.1:p.Glu173Ter, XP_047277741.1:p.Glu217Ter, XP_047277742.1:p.Glu217Ter, XP_047277744.1:p.Glu202Ter, XP_047277745.1:p.Glu202Ter, XP_047277747.1:p.Glu173Ter, XP_047277748.1:p.Glu202Ter

              7.

              rs1464742802 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                8:61684134 (GRCh38)
                8:62596693 (GRCh37)
                Canonical SPDI:
                NC_000008.11:61684133:G:C
                Gene:
                ASPH (Varview)
                Functional Consequence:
                stop_gained,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0.000071/1 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                NC_000008.11:g.61684134G>C, NC_000008.10:g.62596693G>C, NG_013210.1:g.35507C>G, NM_032468.5:c.71C>G, NM_032468.4:c.71C>G, NM_020164.5:c.71C>G, NM_020164.4:c.71C>G, NM_004318.4:c.158C>G, NM_004318.3:c.158C>G, NM_032466.4:c.158C>G, NM_032466.3:c.158C>G, NM_032467.4:c.71C>G, NM_032467.3:c.71C>G, NM_001164750.2:c.71C>G, NM_001164750.1:c.71C>G, NM_001164754.2:c.158C>G, NM_001164754.1:c.158C>G, NM_001164755.2:c.158C>G, NM_001164755.1:c.158C>G, NM_001164751.2:c.71C>G, NM_001164751.1:c.71C>G, NM_001164752.2:c.71C>G, NM_001164752.1:c.71C>G, NM_001164753.2:c.71C>G, NM_001164753.1:c.71C>G, NM_001164756.2:c.158C>G, NM_001164756.1:c.158C>G, XM_005251242.4:c.158C>G, XM_005251242.3:c.158C>G, XM_005251242.2:c.158C>G, XM_005251242.1:c.158C>G, XM_005251246.4:c.158C>G, XM_005251246.3:c.158C>G, XM_005251246.2:c.158C>G, XM_005251246.1:c.158C>G, XM_017013422.3:c.158C>G, XM_017013422.2:c.158C>G, XM_017013422.1:c.158C>G, XM_005251235.3:c.158C>G, XM_005251235.2:c.158C>G, XM_005251235.1:c.158C>G, XM_005251236.3:c.158C>G, XM_005251236.2:c.158C>G, XM_005251236.1:c.158C>G, XM_017013428.3:c.158C>G, XM_017013428.2:c.158C>G, XM_017013428.1:c.158C>G, XM_017013429.3:c.158C>G, XM_017013429.2:c.158C>G, XM_017013429.1:c.158C>G, XM_005251239.3:c.158C>G, XM_005251239.2:c.158C>G, XM_005251239.1:c.158C>G, XM_017013437.3:c.158C>G, XM_017013437.2:c.158C>G, XM_017013437.1:c.158C>G, XM_005251243.3:c.158C>G, XM_005251243.2:c.158C>G, XM_005251243.1:c.158C>G, XM_005251247.3:c.158C>G, XM_005251247.2:c.158C>G, XM_005251247.1:c.158C>G, XM_017013419.2:c.158C>G, XM_017013419.1:c.158C>G, XM_017013420.2:c.158C>G, XM_017013420.1:c.158C>G, XM_017013430.2:c.158C>G, XM_017013430.1:c.158C>G, XM_017013434.2:c.158C>G, XM_017013434.1:c.158C>G, XM_017013426.2:c.71C>G, XM_017013426.1:c.71C>G, XM_017013427.2:c.71C>G, XM_017013427.1:c.71C>G, XM_017013438.2:c.158C>G, XM_017013438.1:c.158C>G, XM_017013431.2:c.71C>G, XM_017013431.1:c.71C>G, XM_017013435.2:c.71C>G, XM_017013435.1:c.71C>G, XM_005251240.2:c.71C>G, XM_005251240.1:c.71C>G, XM_017013440.2:c.71C>G, XM_017013440.1:c.71C>G, XM_017013439.2:c.71C>G, XM_017013439.1:c.71C>G, XM_005251244.2:c.71C>G, XM_005251244.1:c.71C>G, XM_017013444.2:c.71C>G, XM_017013444.1:c.71C>G, XM_017013445.2:c.71C>G, XM_017013445.1:c.71C>G, XM_017013446.2:c.71C>G, XM_017013446.1:c.71C>G, XM_017013447.2:c.71C>G, XM_017013447.1:c.71C>G, XM_024447157.2:c.158C>G, XM_024447157.1:c.158C>G, XM_024447158.2:c.71C>G, XM_024447158.1:c.71C>G, XM_024447159.2:c.71C>G, XM_024447159.1:c.71C>G, XM_047421785.1:c.158C>G, XM_047421786.1:c.158C>G, XM_047421788.1:c.158C>G, XM_047421789.1:c.158C>G, XM_047421790.1:c.158C>G, XM_047421791.1:c.71C>G, XM_047421792.1:c.158C>G, XM_047421793.1:c.158C>G, NP_115857.1:p.Ser24Ter, NP_064549.1:p.Ser24Ter, NP_004309.2:p.Ser53Ter, NP_115855.1:p.Ser53Ter, NP_115856.1:p.Ser24Ter, NP_001158222.1:p.Ser24Ter, NP_001158226.1:p.Ser53Ter, NP_001158227.1:p.Ser53Ter, NP_001158223.1:p.Ser24Ter, NP_001158224.1:p.Ser24Ter, NP_001158225.1:p.Ser24Ter, NP_001158228.1:p.Ser53Ter, XP_005251299.1:p.Ser53Ter, XP_005251303.1:p.Ser53Ter, XP_016868911.1:p.Ser53Ter, XP_005251292.1:p.Ser53Ter, XP_005251293.1:p.Ser53Ter, XP_016868917.1:p.Ser53Ter, XP_016868918.1:p.Ser53Ter, XP_005251296.1:p.Ser53Ter, XP_016868926.1:p.Ser53Ter, XP_005251300.1:p.Ser53Ter, XP_005251304.1:p.Ser53Ter, XP_016868908.1:p.Ser53Ter, XP_016868909.1:p.Ser53Ter, XP_016868919.1:p.Ser53Ter, XP_016868923.1:p.Ser53Ter, XP_016868915.1:p.Ser24Ter, XP_016868916.1:p.Ser24Ter, XP_016868927.1:p.Ser53Ter, XP_016868920.1:p.Ser24Ter, XP_016868924.1:p.Ser24Ter, XP_005251297.1:p.Ser24Ter, XP_016868929.1:p.Ser24Ter, XP_016868928.1:p.Ser24Ter, XP_005251301.1:p.Ser24Ter, XP_016868933.1:p.Ser24Ter, XP_016868934.1:p.Ser24Ter, XP_016868935.1:p.Ser24Ter, XP_016868936.1:p.Ser24Ter, XP_024302925.1:p.Ser53Ter, XP_024302926.1:p.Ser24Ter, XP_024302927.1:p.Ser24Ter, XP_047277741.1:p.Ser53Ter, XP_047277742.1:p.Ser53Ter, XP_047277744.1:p.Ser53Ter, XP_047277745.1:p.Ser53Ter, XP_047277746.1:p.Ser53Ter, XP_047277747.1:p.Ser24Ter, XP_047277748.1:p.Ser53Ter, XP_047277749.1:p.Ser53Ter

                8.

                rs1456120217 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  8:61633710 (GRCh38)
                  8:62546269 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:61633709:C:T
                  Gene:
                  ASPH (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000021/5 (GnomAD_exomes)
                  T=0.000087/23 (TOPMED)
                  T=0.000121/17 (GnomAD)
                  HGVS:
                  NC_000008.11:g.61633710C>T, NC_000008.10:g.62546269C>T, NG_013210.1:g.85931G>A, NM_032468.5:c.865G>A, NM_032468.4:c.865G>A, NM_004318.4:c.907G>A, NM_004318.3:c.907G>A, NM_032466.4:c.907G>A, NM_032466.3:c.907G>A, NM_001164750.2:c.820G>A, NM_001164750.1:c.820G>A, NM_001164754.2:c.850G>A, NM_001164754.1:c.850G>A, NM_001164755.2:c.778G>A, NM_001164755.1:c.778G>A, NM_001164751.2:c.862G>A, NM_001164751.1:c.862G>A, NM_001164752.2:c.805G>A, NM_001164752.1:c.805G>A, NM_001164753.2:c.736G>A, NM_001164753.1:c.736G>A, XM_005251242.4:c.850G>A, XM_005251242.3:c.850G>A, XM_005251242.2:c.850G>A, XM_005251242.1:c.850G>A, XM_005251246.4:c.778G>A, XM_005251246.3:c.778G>A, XM_005251246.2:c.778G>A, XM_005251246.1:c.778G>A, XM_017013422.3:c.907G>A, XM_017013422.2:c.907G>A, XM_017013422.1:c.907G>A, XM_005251235.3:c.952G>A, XM_005251235.2:c.952G>A, XM_005251235.1:c.952G>A, XM_005251236.3:c.949G>A, XM_005251236.2:c.949G>A, XM_005251236.1:c.949G>A, XM_017013428.3:c.850G>A, XM_017013428.2:c.850G>A, XM_017013428.1:c.850G>A, XM_017013429.3:c.904G>A, XM_017013429.2:c.904G>A, XM_017013429.1:c.904G>A, XM_005251239.3:c.895G>A, XM_005251239.2:c.895G>A, XM_005251239.1:c.895G>A, XM_017013437.3:c.778G>A, XM_017013437.2:c.778G>A, XM_017013437.1:c.778G>A, XM_005251243.3:c.823G>A, XM_005251243.2:c.823G>A, XM_005251243.1:c.823G>A, XM_005251247.3:c.766G>A, XM_005251247.2:c.766G>A, XM_005251247.1:c.766G>A, XM_017013419.2:c.952G>A, XM_017013419.1:c.952G>A, XM_017013420.2:c.949G>A, XM_017013420.1:c.949G>A, XM_017013430.2:c.823G>A, XM_017013430.1:c.823G>A, XM_017013434.2:c.892G>A, XM_017013434.1:c.892G>A, XM_017013426.2:c.865G>A, XM_017013426.1:c.865G>A, XM_017013427.2:c.862G>A, XM_017013427.1:c.862G>A, XM_017013438.2:c.820G>A, XM_017013438.1:c.820G>A, XM_017013431.2:c.820G>A, XM_017013431.1:c.820G>A, XM_017013435.2:c.805G>A, XM_017013435.1:c.805G>A, XM_005251240.2:c.865G>A, XM_005251240.1:c.865G>A, XM_017013440.2:c.736G>A, XM_017013440.1:c.736G>A, XM_017013439.2:c.817G>A, XM_017013439.1:c.817G>A, XM_005251244.2:c.805G>A, XM_005251244.1:c.805G>A, XM_017013444.2:c.691G>A, XM_017013444.1:c.691G>A, XM_017013445.2:c.820G>A, XM_017013445.1:c.820G>A, XM_017013446.2:c.763G>A, XM_017013446.1:c.763G>A, XM_017013447.2:c.691G>A, XM_017013447.1:c.691G>A, XM_024447157.2:c.907G>A, XM_024447157.1:c.907G>A, XM_024447158.2:c.820G>A, XM_024447158.1:c.820G>A, XM_047421785.1:c.910G>A, XM_047421789.1:c.847G>A, XM_047421790.1:c.775G>A, XM_047421791.1:c.763G>A, XM_047421792.1:c.850G>A, XM_047421793.1:c.778G>A, NP_115857.1:p.Val289Met, NP_004309.2:p.Val303Met, NP_115855.1:p.Val303Met, NP_001158222.1:p.Val274Met, NP_001158226.1:p.Val284Met, NP_001158227.1:p.Val260Met, NP_001158223.1:p.Val288Met, NP_001158224.1:p.Val269Met, NP_001158225.1:p.Val246Met, XP_005251299.1:p.Val284Met, XP_005251303.1:p.Val260Met, XP_016868911.1:p.Val303Met, XP_005251292.1:p.Val318Met, XP_005251293.1:p.Val317Met, XP_016868917.1:p.Val284Met, XP_016868918.1:p.Val302Met, XP_005251296.1:p.Val299Met, XP_016868926.1:p.Val260Met, XP_005251300.1:p.Val275Met, XP_005251304.1:p.Val256Met, XP_016868908.1:p.Val318Met, XP_016868909.1:p.Val317Met, XP_016868919.1:p.Val275Met, XP_016868923.1:p.Val298Met, XP_016868915.1:p.Val289Met, XP_016868916.1:p.Val288Met, XP_016868927.1:p.Val274Met, XP_016868920.1:p.Val274Met, XP_016868924.1:p.Val269Met, XP_005251297.1:p.Val289Met, XP_016868929.1:p.Val246Met, XP_016868928.1:p.Val273Met, XP_005251301.1:p.Val269Met, XP_016868933.1:p.Val231Met, XP_016868934.1:p.Val274Met, XP_016868935.1:p.Val255Met, XP_016868936.1:p.Val231Met, XP_024302925.1:p.Val303Met, XP_024302926.1:p.Val274Met, XP_047277741.1:p.Val304Met, XP_047277745.1:p.Val283Met, XP_047277746.1:p.Val259Met, XP_047277747.1:p.Val255Met, XP_047277748.1:p.Val284Met, XP_047277749.1:p.Val260Met

                  9.

                  rs1453671931 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    8:61653629 (GRCh38)
                    8:62566188 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:61653628:T:C
                    Gene:
                    ASPH (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000008.11:g.61653629T>C, NC_000008.10:g.62566188T>C, NG_013210.1:g.66012A>G, NM_032468.5:c.312A>G, NM_032468.4:c.312A>G, NM_004318.4:c.354A>G, NM_004318.3:c.354A>G, NM_032466.4:c.354A>G, NM_032466.3:c.354A>G, NM_001164750.2:c.267A>G, NM_001164750.1:c.267A>G, NM_001164754.2:c.354A>G, NM_001164754.1:c.354A>G, NM_001164755.2:c.354A>G, NM_001164755.1:c.354A>G, NM_001164751.2:c.312A>G, NM_001164751.1:c.312A>G, NM_001164752.2:c.312A>G, NM_001164752.1:c.312A>G, NM_001164753.2:c.312A>G, NM_001164753.1:c.312A>G, XM_005251242.4:c.354A>G, XM_005251242.3:c.354A>G, XM_005251242.2:c.354A>G, XM_005251242.1:c.354A>G, XM_005251246.4:c.354A>G, XM_005251246.3:c.354A>G, XM_005251246.2:c.354A>G, XM_005251246.1:c.354A>G, XM_017013422.3:c.354A>G, XM_017013422.2:c.354A>G, XM_017013422.1:c.354A>G, XM_005251235.3:c.399A>G, XM_005251235.2:c.399A>G, XM_005251235.1:c.399A>G, XM_005251236.3:c.399A>G, XM_005251236.2:c.399A>G, XM_005251236.1:c.399A>G, XM_017013428.3:c.354A>G, XM_017013428.2:c.354A>G, XM_017013428.1:c.354A>G, XM_017013429.3:c.354A>G, XM_017013429.2:c.354A>G, XM_017013429.1:c.354A>G, XM_005251239.3:c.399A>G, XM_005251239.2:c.399A>G, XM_005251239.1:c.399A>G, XM_017013437.3:c.354A>G, XM_017013437.2:c.354A>G, XM_017013437.1:c.354A>G, XM_005251243.3:c.399A>G, XM_005251243.2:c.399A>G, XM_005251243.1:c.399A>G, XM_005251247.3:c.399A>G, XM_005251247.2:c.399A>G, XM_005251247.1:c.399A>G, XM_017013419.2:c.399A>G, XM_017013419.1:c.399A>G, XM_017013420.2:c.399A>G, XM_017013420.1:c.399A>G, XM_017013430.2:c.399A>G, XM_017013430.1:c.399A>G, XM_017013434.2:c.399A>G, XM_017013434.1:c.399A>G, XM_017013426.2:c.312A>G, XM_017013426.1:c.312A>G, XM_017013427.2:c.312A>G, XM_017013427.1:c.312A>G, XM_017013438.2:c.399A>G, XM_017013438.1:c.399A>G, XM_017013431.2:c.267A>G, XM_017013431.1:c.267A>G, XM_017013435.2:c.312A>G, XM_017013435.1:c.312A>G, XM_005251240.2:c.312A>G, XM_005251240.1:c.312A>G, XM_017013440.2:c.312A>G, XM_017013440.1:c.312A>G, XM_017013439.2:c.267A>G, XM_017013439.1:c.267A>G, XM_005251244.2:c.312A>G, XM_005251244.1:c.312A>G, XM_017013444.2:c.267A>G, XM_017013444.1:c.267A>G, XM_017013445.2:c.267A>G, XM_017013445.1:c.267A>G, XM_017013446.2:c.267A>G, XM_017013446.1:c.267A>G, XM_017013447.2:c.267A>G, XM_017013447.1:c.267A>G, XM_024447157.2:c.354A>G, XM_024447157.1:c.354A>G, XM_024447158.2:c.267A>G, XM_024447158.1:c.267A>G, XM_047421785.1:c.399A>G, XM_047421786.1:c.399A>G, XM_047421788.1:c.354A>G, XM_047421789.1:c.354A>G, XM_047421790.1:c.354A>G, XM_047421791.1:c.267A>G, XM_047421792.1:c.354A>G, XM_047421793.1:c.354A>G

                    10.

                    rs1451930508 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      8:61643386 (GRCh38)
                      8:62555945 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:61643385:C:T
                      Gene:
                      ASPH (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      NC_000008.11:g.61643386C>T, NC_000008.10:g.62555945C>T, NG_013210.1:g.76255G>A, NM_032468.5:c.715G>A, NM_032468.4:c.715G>A, NM_004318.4:c.757G>A, NM_004318.3:c.757G>A, NM_032466.4:c.757G>A, NM_032466.3:c.757G>A, NM_001164750.2:c.670G>A, NM_001164750.1:c.670G>A, NM_001164754.2:c.700G>A, NM_001164754.1:c.700G>A, NM_001164755.2:c.628G>A, NM_001164755.1:c.628G>A, NM_001164751.2:c.715G>A, NM_001164751.1:c.715G>A, NM_001164752.2:c.658G>A, NM_001164752.1:c.658G>A, NM_001164753.2:c.586G>A, NM_001164753.1:c.586G>A, XM_005251242.4:c.700G>A, XM_005251242.3:c.700G>A, XM_005251242.2:c.700G>A, XM_005251242.1:c.700G>A, XM_005251246.4:c.628G>A, XM_005251246.3:c.628G>A, XM_005251246.2:c.628G>A, XM_005251246.1:c.628G>A, XM_017013422.3:c.757G>A, XM_017013422.2:c.757G>A, XM_017013422.1:c.757G>A, XM_005251235.3:c.802G>A, XM_005251235.2:c.802G>A, XM_005251235.1:c.802G>A, XM_005251236.3:c.802G>A, XM_005251236.2:c.802G>A, XM_005251236.1:c.802G>A, XM_017013428.3:c.700G>A, XM_017013428.2:c.700G>A, XM_017013428.1:c.700G>A, XM_017013429.3:c.757G>A, XM_017013429.2:c.757G>A, XM_017013429.1:c.757G>A, XM_005251239.3:c.745G>A, XM_005251239.2:c.745G>A, XM_005251239.1:c.745G>A, XM_017013437.3:c.628G>A, XM_017013437.2:c.628G>A, XM_017013437.1:c.628G>A, XM_005251243.3:c.673G>A, XM_005251243.2:c.673G>A, XM_005251243.1:c.673G>A, XM_005251247.3:c.616G>A, XM_005251247.2:c.616G>A, XM_005251247.1:c.616G>A, XM_017013419.2:c.802G>A, XM_017013419.1:c.802G>A, XM_017013420.2:c.802G>A, XM_017013420.1:c.802G>A, XM_017013430.2:c.673G>A, XM_017013430.1:c.673G>A, XM_017013434.2:c.745G>A, XM_017013434.1:c.745G>A, XM_017013426.2:c.715G>A, XM_017013426.1:c.715G>A, XM_017013427.2:c.715G>A, XM_017013427.1:c.715G>A, XM_017013438.2:c.673G>A, XM_017013438.1:c.673G>A, XM_017013431.2:c.670G>A, XM_017013431.1:c.670G>A, XM_017013435.2:c.658G>A, XM_017013435.1:c.658G>A, XM_005251240.2:c.715G>A, XM_005251240.1:c.715G>A, XM_017013440.2:c.586G>A, XM_017013440.1:c.586G>A, XM_017013439.2:c.670G>A, XM_017013439.1:c.670G>A, XM_005251244.2:c.658G>A, XM_005251244.1:c.658G>A, XM_017013444.2:c.541G>A, XM_017013444.1:c.541G>A, XM_017013445.2:c.670G>A, XM_017013445.1:c.670G>A, XM_017013446.2:c.613G>A, XM_017013446.1:c.613G>A, XM_017013447.2:c.541G>A, XM_017013447.1:c.541G>A, XM_024447157.2:c.757G>A, XM_024447157.1:c.757G>A, XM_024447158.2:c.670G>A, XM_024447158.1:c.670G>A, XM_047421785.1:c.802G>A, XM_047421786.1:c.802G>A, XM_047421788.1:c.757G>A, XM_047421789.1:c.700G>A, XM_047421790.1:c.628G>A, XM_047421791.1:c.613G>A, XM_047421792.1:c.700G>A, XM_047421793.1:c.628G>A, NP_115857.1:p.Asp239Asn, NP_004309.2:p.Asp253Asn, NP_115855.1:p.Asp253Asn, NP_001158222.1:p.Asp224Asn, NP_001158226.1:p.Asp234Asn, NP_001158227.1:p.Asp210Asn, NP_001158223.1:p.Asp239Asn, NP_001158224.1:p.Asp220Asn, NP_001158225.1:p.Asp196Asn, XP_005251299.1:p.Asp234Asn, XP_005251303.1:p.Asp210Asn, XP_016868911.1:p.Asp253Asn, XP_005251292.1:p.Asp268Asn, XP_005251293.1:p.Asp268Asn, XP_016868917.1:p.Asp234Asn, XP_016868918.1:p.Asp253Asn, XP_005251296.1:p.Asp249Asn, XP_016868926.1:p.Asp210Asn, XP_005251300.1:p.Asp225Asn, XP_005251304.1:p.Asp206Asn, XP_016868908.1:p.Asp268Asn, XP_016868909.1:p.Asp268Asn, XP_016868919.1:p.Asp225Asn, XP_016868923.1:p.Asp249Asn, XP_016868915.1:p.Asp239Asn, XP_016868916.1:p.Asp239Asn, XP_016868927.1:p.Asp225Asn, XP_016868920.1:p.Asp224Asn, XP_016868924.1:p.Asp220Asn, XP_005251297.1:p.Asp239Asn, XP_016868929.1:p.Asp196Asn, XP_016868928.1:p.Asp224Asn, XP_005251301.1:p.Asp220Asn, XP_016868933.1:p.Asp181Asn, XP_016868934.1:p.Asp224Asn, XP_016868935.1:p.Asp205Asn, XP_016868936.1:p.Asp181Asn, XP_024302925.1:p.Asp253Asn, XP_024302926.1:p.Asp224Asn, XP_047277741.1:p.Asp268Asn, XP_047277742.1:p.Asp268Asn, XP_047277744.1:p.Asp253Asn, XP_047277745.1:p.Asp234Asn, XP_047277746.1:p.Asp210Asn, XP_047277747.1:p.Asp205Asn, XP_047277748.1:p.Asp234Asn, XP_047277749.1:p.Asp210Asn

                      11.

                      rs1448546126 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        8:61680998 (GRCh38)
                        8:62593557 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:61680997:A:T
                        Gene:
                        ASPH (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000008.11:g.61680998A>T, NC_000008.10:g.62593557A>T, NG_013210.1:g.38643T>A, NM_032468.5:c.250T>A, NM_032468.4:c.250T>A, NM_020164.5:c.250T>A, NM_020164.4:c.250T>A, NM_004318.4:c.292T>A, NM_004318.3:c.292T>A, NM_032466.4:c.292T>A, NM_032466.3:c.292T>A, NM_032467.4:c.205T>A, NM_032467.3:c.205T>A, NM_001164750.2:c.205T>A, NM_001164750.1:c.205T>A, NM_001164754.2:c.292T>A, NM_001164754.1:c.292T>A, NM_001164755.2:c.292T>A, NM_001164755.1:c.292T>A, NM_001164751.2:c.250T>A, NM_001164751.1:c.250T>A, NM_001164752.2:c.250T>A, NM_001164752.1:c.250T>A, NM_001164753.2:c.250T>A, NM_001164753.1:c.250T>A, NM_001164756.2:c.337T>A, NM_001164756.1:c.337T>A, XM_005251242.4:c.292T>A, XM_005251242.3:c.292T>A, XM_005251242.2:c.292T>A, XM_005251242.1:c.292T>A, XM_005251246.4:c.292T>A, XM_005251246.3:c.292T>A, XM_005251246.2:c.292T>A, XM_005251246.1:c.292T>A, XM_017013422.3:c.292T>A, XM_017013422.2:c.292T>A, XM_017013422.1:c.292T>A, XM_005251235.3:c.337T>A, XM_005251235.2:c.337T>A, XM_005251235.1:c.337T>A, XM_005251236.3:c.337T>A, XM_005251236.2:c.337T>A, XM_005251236.1:c.337T>A, XM_017013428.3:c.292T>A, XM_017013428.2:c.292T>A, XM_017013428.1:c.292T>A, XM_017013429.3:c.292T>A, XM_017013429.2:c.292T>A, XM_017013429.1:c.292T>A, XM_005251239.3:c.337T>A, XM_005251239.2:c.337T>A, XM_005251239.1:c.337T>A, XM_017013437.3:c.292T>A, XM_017013437.2:c.292T>A, XM_017013437.1:c.292T>A, XM_005251243.3:c.337T>A, XM_005251243.2:c.337T>A, XM_005251243.1:c.337T>A, XM_005251247.3:c.337T>A, XM_005251247.2:c.337T>A, XM_005251247.1:c.337T>A, XM_017013419.2:c.337T>A, XM_017013419.1:c.337T>A, XM_017013420.2:c.337T>A, XM_017013420.1:c.337T>A, XM_017013430.2:c.337T>A, XM_017013430.1:c.337T>A, XM_017013434.2:c.337T>A, XM_017013434.1:c.337T>A, XM_017013426.2:c.250T>A, XM_017013426.1:c.250T>A, XM_017013427.2:c.250T>A, XM_017013427.1:c.250T>A, XM_017013438.2:c.337T>A, XM_017013438.1:c.337T>A, XM_017013431.2:c.205T>A, XM_017013431.1:c.205T>A, XM_017013435.2:c.250T>A, XM_017013435.1:c.250T>A, XM_005251240.2:c.250T>A, XM_005251240.1:c.250T>A, XM_017013440.2:c.250T>A, XM_017013440.1:c.250T>A, XM_017013439.2:c.205T>A, XM_017013439.1:c.205T>A, XM_005251244.2:c.250T>A, XM_005251244.1:c.250T>A, XM_017013444.2:c.205T>A, XM_017013444.1:c.205T>A, XM_017013445.2:c.205T>A, XM_017013445.1:c.205T>A, XM_017013446.2:c.205T>A, XM_017013446.1:c.205T>A, XM_017013447.2:c.205T>A, XM_017013447.1:c.205T>A, XM_024447157.2:c.292T>A, XM_024447157.1:c.292T>A, XM_024447158.2:c.205T>A, XM_024447158.1:c.205T>A, XM_024447159.2:c.250T>A, XM_024447159.1:c.250T>A, XM_047421785.1:c.337T>A, XM_047421786.1:c.337T>A, XM_047421788.1:c.292T>A, XM_047421789.1:c.292T>A, XM_047421790.1:c.292T>A, XM_047421791.1:c.205T>A, XM_047421792.1:c.292T>A, XM_047421793.1:c.292T>A, NP_115857.1:p.Phe84Ile, NP_064549.1:p.Phe84Ile, NP_004309.2:p.Phe98Ile, NP_115855.1:p.Phe98Ile, NP_115856.1:p.Phe69Ile, NP_001158222.1:p.Phe69Ile, NP_001158226.1:p.Phe98Ile, NP_001158227.1:p.Phe98Ile, NP_001158223.1:p.Phe84Ile, NP_001158224.1:p.Phe84Ile, NP_001158225.1:p.Phe84Ile, NP_001158228.1:p.Phe113Ile, XP_005251299.1:p.Phe98Ile, XP_005251303.1:p.Phe98Ile, XP_016868911.1:p.Phe98Ile, XP_005251292.1:p.Phe113Ile, XP_005251293.1:p.Phe113Ile, XP_016868917.1:p.Phe98Ile, XP_016868918.1:p.Phe98Ile, XP_005251296.1:p.Phe113Ile, XP_016868926.1:p.Phe98Ile, XP_005251300.1:p.Phe113Ile, XP_005251304.1:p.Phe113Ile, XP_016868908.1:p.Phe113Ile, XP_016868909.1:p.Phe113Ile, XP_016868919.1:p.Phe113Ile, XP_016868923.1:p.Phe113Ile, XP_016868915.1:p.Phe84Ile, XP_016868916.1:p.Phe84Ile, XP_016868927.1:p.Phe113Ile, XP_016868920.1:p.Phe69Ile, XP_016868924.1:p.Phe84Ile, XP_005251297.1:p.Phe84Ile, XP_016868929.1:p.Phe84Ile, XP_016868928.1:p.Phe69Ile, XP_005251301.1:p.Phe84Ile, XP_016868933.1:p.Phe69Ile, XP_016868934.1:p.Phe69Ile, XP_016868935.1:p.Phe69Ile, XP_016868936.1:p.Phe69Ile, XP_024302925.1:p.Phe98Ile, XP_024302926.1:p.Phe69Ile, XP_024302927.1:p.Phe84Ile, XP_047277741.1:p.Phe113Ile, XP_047277742.1:p.Phe113Ile, XP_047277744.1:p.Phe98Ile, XP_047277745.1:p.Phe98Ile, XP_047277746.1:p.Phe98Ile, XP_047277747.1:p.Phe69Ile, XP_047277748.1:p.Phe98Ile, XP_047277749.1:p.Phe98Ile

                        12.

                        rs1437992235 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          8:61646861 (GRCh38)
                          8:62559420 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:61646860:G:A,NC_000008.11:61646860:G:C
                          Gene:
                          ASPH (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,stop_gained,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000008.11:g.61646861G>A, NC_000008.11:g.61646861G>C, NC_000008.10:g.62559420G>A, NC_000008.10:g.62559420G>C, NG_013210.1:g.72780C>T, NG_013210.1:g.72780C>G, NM_032468.5:c.466C>T, NM_032468.5:c.466C>G, NM_032468.4:c.466C>T, NM_032468.4:c.466C>G, NM_004318.4:c.508C>T, NM_004318.4:c.508C>G, NM_004318.3:c.508C>T, NM_004318.3:c.508C>G, NM_032466.4:c.508C>T, NM_032466.4:c.508C>G, NM_032466.3:c.508C>T, NM_032466.3:c.508C>G, NM_001164750.2:c.421C>T, NM_001164750.2:c.421C>G, NM_001164750.1:c.421C>T, NM_001164750.1:c.421C>G, NM_001164754.2:c.508C>T, NM_001164754.2:c.508C>G, NM_001164754.1:c.508C>T, NM_001164754.1:c.508C>G, NM_001164751.2:c.466C>T, NM_001164751.2:c.466C>G, NM_001164751.1:c.466C>T, NM_001164751.1:c.466C>G, NM_001164752.2:c.466C>T, NM_001164752.2:c.466C>G, NM_001164752.1:c.466C>T, NM_001164752.1:c.466C>G, XM_005251242.4:c.508C>T, XM_005251242.4:c.508C>G, XM_005251242.3:c.508C>T, XM_005251242.3:c.508C>G, XM_005251242.2:c.508C>T, XM_005251242.2:c.508C>G, XM_005251242.1:c.508C>T, XM_005251242.1:c.508C>G, XM_017013422.3:c.508C>T, XM_017013422.3:c.508C>G, XM_017013422.2:c.508C>T, XM_017013422.2:c.508C>G, XM_017013422.1:c.508C>T, XM_017013422.1:c.508C>G, XM_005251235.3:c.553C>T, XM_005251235.3:c.553C>G, XM_005251235.2:c.553C>T, XM_005251235.2:c.553C>G, XM_005251235.1:c.553C>T, XM_005251235.1:c.553C>G, XM_005251236.3:c.553C>T, XM_005251236.3:c.553C>G, XM_005251236.2:c.553C>T, XM_005251236.2:c.553C>G, XM_005251236.1:c.553C>T, XM_005251236.1:c.553C>G, XM_017013428.3:c.508C>T, XM_017013428.3:c.508C>G, XM_017013428.2:c.508C>T, XM_017013428.2:c.508C>G, XM_017013428.1:c.508C>T, XM_017013428.1:c.508C>G, XM_017013429.3:c.508C>T, XM_017013429.3:c.508C>G, XM_017013429.2:c.508C>T, XM_017013429.2:c.508C>G, XM_017013429.1:c.508C>T, XM_017013429.1:c.508C>G, XM_005251239.3:c.553C>T, XM_005251239.3:c.553C>G, XM_005251239.2:c.553C>T, XM_005251239.2:c.553C>G, XM_005251239.1:c.553C>T, XM_005251239.1:c.553C>G, XM_017013419.2:c.553C>T, XM_017013419.2:c.553C>G, XM_017013419.1:c.553C>T, XM_017013419.1:c.553C>G, XM_017013420.2:c.553C>T, XM_017013420.2:c.553C>G, XM_017013420.1:c.553C>T, XM_017013420.1:c.553C>G, XM_017013434.2:c.553C>T, XM_017013434.2:c.553C>G, XM_017013434.1:c.553C>T, XM_017013434.1:c.553C>G, XM_017013426.2:c.466C>T, XM_017013426.2:c.466C>G, XM_017013426.1:c.466C>T, XM_017013426.1:c.466C>G, XM_017013427.2:c.466C>T, XM_017013427.2:c.466C>G, XM_017013427.1:c.466C>T, XM_017013427.1:c.466C>G, XM_017013431.2:c.421C>T, XM_017013431.2:c.421C>G, XM_017013431.1:c.421C>T, XM_017013431.1:c.421C>G, XM_017013435.2:c.466C>T, XM_017013435.2:c.466C>G, XM_017013435.1:c.466C>T, XM_017013435.1:c.466C>G, XM_005251240.2:c.466C>T, XM_005251240.2:c.466C>G, XM_005251240.1:c.466C>T, XM_005251240.1:c.466C>G, XM_017013439.2:c.421C>T, XM_017013439.2:c.421C>G, XM_017013439.1:c.421C>T, XM_017013439.1:c.421C>G, XM_005251244.2:c.466C>T, XM_005251244.2:c.466C>G, XM_005251244.1:c.466C>T, XM_005251244.1:c.466C>G, XM_017013445.2:c.421C>T, XM_017013445.2:c.421C>G, XM_017013445.1:c.421C>T, XM_017013445.1:c.421C>G, XM_017013446.2:c.421C>T, XM_017013446.2:c.421C>G, XM_017013446.1:c.421C>T, XM_017013446.1:c.421C>G, XM_024447157.2:c.508C>T, XM_024447157.2:c.508C>G, XM_024447157.1:c.508C>T, XM_024447157.1:c.508C>G, XM_024447158.2:c.421C>T, XM_024447158.2:c.421C>G, XM_024447158.1:c.421C>T, XM_024447158.1:c.421C>G, XM_047421785.1:c.553C>T, XM_047421785.1:c.553C>G, XM_047421786.1:c.553C>T, XM_047421786.1:c.553C>G, XM_047421788.1:c.508C>T, XM_047421788.1:c.508C>G, XM_047421789.1:c.508C>T, XM_047421789.1:c.508C>G, XM_047421791.1:c.421C>T, XM_047421791.1:c.421C>G, XM_047421792.1:c.508C>T, XM_047421792.1:c.508C>G, NP_115857.1:p.Gln156Ter, NP_115857.1:p.Gln156Glu, NP_004309.2:p.Gln170Ter, NP_004309.2:p.Gln170Glu, NP_115855.1:p.Gln170Ter, NP_115855.1:p.Gln170Glu, NP_001158222.1:p.Gln141Ter, NP_001158222.1:p.Gln141Glu, NP_001158226.1:p.Gln170Ter, NP_001158226.1:p.Gln170Glu, NP_001158223.1:p.Gln156Ter, NP_001158223.1:p.Gln156Glu, NP_001158224.1:p.Gln156Ter, NP_001158224.1:p.Gln156Glu, XP_005251299.1:p.Gln170Ter, XP_005251299.1:p.Gln170Glu, XP_016868911.1:p.Gln170Ter, XP_016868911.1:p.Gln170Glu, XP_005251292.1:p.Gln185Ter, XP_005251292.1:p.Gln185Glu, XP_005251293.1:p.Gln185Ter, XP_005251293.1:p.Gln185Glu, XP_016868917.1:p.Gln170Ter, XP_016868917.1:p.Gln170Glu, XP_016868918.1:p.Gln170Ter, XP_016868918.1:p.Gln170Glu, XP_005251296.1:p.Gln185Ter, XP_005251296.1:p.Gln185Glu, XP_016868908.1:p.Gln185Ter, XP_016868908.1:p.Gln185Glu, XP_016868909.1:p.Gln185Ter, XP_016868909.1:p.Gln185Glu, XP_016868923.1:p.Gln185Ter, XP_016868923.1:p.Gln185Glu, XP_016868915.1:p.Gln156Ter, XP_016868915.1:p.Gln156Glu, XP_016868916.1:p.Gln156Ter, XP_016868916.1:p.Gln156Glu, XP_016868920.1:p.Gln141Ter, XP_016868920.1:p.Gln141Glu, XP_016868924.1:p.Gln156Ter, XP_016868924.1:p.Gln156Glu, XP_005251297.1:p.Gln156Ter, XP_005251297.1:p.Gln156Glu, XP_016868928.1:p.Gln141Ter, XP_016868928.1:p.Gln141Glu, XP_005251301.1:p.Gln156Ter, XP_005251301.1:p.Gln156Glu, XP_016868934.1:p.Gln141Ter, XP_016868934.1:p.Gln141Glu, XP_016868935.1:p.Gln141Ter, XP_016868935.1:p.Gln141Glu, XP_024302925.1:p.Gln170Ter, XP_024302925.1:p.Gln170Glu, XP_024302926.1:p.Gln141Ter, XP_024302926.1:p.Gln141Glu, XP_047277741.1:p.Gln185Ter, XP_047277741.1:p.Gln185Glu, XP_047277742.1:p.Gln185Ter, XP_047277742.1:p.Gln185Glu, XP_047277744.1:p.Gln170Ter, XP_047277744.1:p.Gln170Glu, XP_047277745.1:p.Gln170Ter, XP_047277745.1:p.Gln170Glu, XP_047277747.1:p.Gln141Ter, XP_047277747.1:p.Gln141Glu, XP_047277748.1:p.Gln170Ter, XP_047277748.1:p.Gln170Glu

                          13.

                          rs1435902631 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A,C [Show Flanks]
                            Chromosome:
                            8:61651073 (GRCh38)
                            8:62563632 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:61651072:T:A,NC_000008.11:61651072:T:C
                            Gene:
                            ASPH (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000008.11:g.61651073T>A, NC_000008.11:g.61651073T>C, NC_000008.10:g.62563632T>A, NC_000008.10:g.62563632T>C, NG_013210.1:g.68568A>T, NG_013210.1:g.68568A>G, NM_032468.5:c.425A>T, NM_032468.5:c.425A>G, NM_032468.4:c.425A>T, NM_032468.4:c.425A>G, NM_004318.4:c.467A>T, NM_004318.4:c.467A>G, NM_004318.3:c.467A>T, NM_004318.3:c.467A>G, NM_032466.4:c.467A>T, NM_032466.4:c.467A>G, NM_032466.3:c.467A>T, NM_032466.3:c.467A>G, NM_001164750.2:c.380A>T, NM_001164750.2:c.380A>G, NM_001164750.1:c.380A>T, NM_001164750.1:c.380A>G, NM_001164754.2:c.467A>T, NM_001164754.2:c.467A>G, NM_001164754.1:c.467A>T, NM_001164754.1:c.467A>G, NM_001164755.2:c.467A>T, NM_001164755.2:c.467A>G, NM_001164755.1:c.467A>T, NM_001164755.1:c.467A>G, NM_001164751.2:c.425A>T, NM_001164751.2:c.425A>G, NM_001164751.1:c.425A>T, NM_001164751.1:c.425A>G, NM_001164752.2:c.425A>T, NM_001164752.2:c.425A>G, NM_001164752.1:c.425A>T, NM_001164752.1:c.425A>G, NM_001164753.2:c.425A>T, NM_001164753.2:c.425A>G, NM_001164753.1:c.425A>T, NM_001164753.1:c.425A>G, XM_005251242.4:c.467A>T, XM_005251242.4:c.467A>G, XM_005251242.3:c.467A>T, XM_005251242.3:c.467A>G, XM_005251242.2:c.467A>T, XM_005251242.2:c.467A>G, XM_005251242.1:c.467A>T, XM_005251242.1:c.467A>G, XM_005251246.4:c.467A>T, XM_005251246.4:c.467A>G, XM_005251246.3:c.467A>T, XM_005251246.3:c.467A>G, XM_005251246.2:c.467A>T, XM_005251246.2:c.467A>G, XM_005251246.1:c.467A>T, XM_005251246.1:c.467A>G, XM_017013422.3:c.467A>T, XM_017013422.3:c.467A>G, XM_017013422.2:c.467A>T, XM_017013422.2:c.467A>G, XM_017013422.1:c.467A>T, XM_017013422.1:c.467A>G, XM_005251235.3:c.512A>T, XM_005251235.3:c.512A>G, XM_005251235.2:c.512A>T, XM_005251235.2:c.512A>G, XM_005251235.1:c.512A>T, XM_005251235.1:c.512A>G, XM_005251236.3:c.512A>T, XM_005251236.3:c.512A>G, XM_005251236.2:c.512A>T, XM_005251236.2:c.512A>G, XM_005251236.1:c.512A>T, XM_005251236.1:c.512A>G, XM_017013428.3:c.467A>T, XM_017013428.3:c.467A>G, XM_017013428.2:c.467A>T, XM_017013428.2:c.467A>G, XM_017013428.1:c.467A>T, XM_017013428.1:c.467A>G, XM_017013429.3:c.467A>T, XM_017013429.3:c.467A>G, XM_017013429.2:c.467A>T, XM_017013429.2:c.467A>G, XM_017013429.1:c.467A>T, XM_017013429.1:c.467A>G, XM_005251239.3:c.512A>T, XM_005251239.3:c.512A>G, XM_005251239.2:c.512A>T, XM_005251239.2:c.512A>G, XM_005251239.1:c.512A>T, XM_005251239.1:c.512A>G, XM_017013437.3:c.467A>T, XM_017013437.3:c.467A>G, XM_017013437.2:c.467A>T, XM_017013437.2:c.467A>G, XM_017013437.1:c.467A>T, XM_017013437.1:c.467A>G, XM_005251243.3:c.512A>T, XM_005251243.3:c.512A>G, XM_005251243.2:c.512A>T, XM_005251243.2:c.512A>G, XM_005251243.1:c.512A>T, XM_005251243.1:c.512A>G, XM_005251247.3:c.512A>T, XM_005251247.3:c.512A>G, XM_005251247.2:c.512A>T, XM_005251247.2:c.512A>G, XM_005251247.1:c.512A>T, XM_005251247.1:c.512A>G, XM_017013419.2:c.512A>T, XM_017013419.2:c.512A>G, XM_017013419.1:c.512A>T, XM_017013419.1:c.512A>G, XM_017013420.2:c.512A>T, XM_017013420.2:c.512A>G, XM_017013420.1:c.512A>T, XM_017013420.1:c.512A>G, XM_017013430.2:c.512A>T, XM_017013430.2:c.512A>G, XM_017013430.1:c.512A>T, XM_017013430.1:c.512A>G, XM_017013434.2:c.512A>T, XM_017013434.2:c.512A>G, XM_017013434.1:c.512A>T, XM_017013434.1:c.512A>G, XM_017013426.2:c.425A>T, XM_017013426.2:c.425A>G, XM_017013426.1:c.425A>T, XM_017013426.1:c.425A>G, XM_017013427.2:c.425A>T, XM_017013427.2:c.425A>G, XM_017013427.1:c.425A>T, XM_017013427.1:c.425A>G, XM_017013438.2:c.512A>T, XM_017013438.2:c.512A>G, XM_017013438.1:c.512A>T, XM_017013438.1:c.512A>G, XM_017013431.2:c.380A>T, XM_017013431.2:c.380A>G, XM_017013431.1:c.380A>T, XM_017013431.1:c.380A>G, XM_017013435.2:c.425A>T, XM_017013435.2:c.425A>G, XM_017013435.1:c.425A>T, XM_017013435.1:c.425A>G, XM_005251240.2:c.425A>T, XM_005251240.2:c.425A>G, XM_005251240.1:c.425A>T, XM_005251240.1:c.425A>G, XM_017013440.2:c.425A>T, XM_017013440.2:c.425A>G, XM_017013440.1:c.425A>T, XM_017013440.1:c.425A>G, XM_017013439.2:c.380A>T, XM_017013439.2:c.380A>G, XM_017013439.1:c.380A>T, XM_017013439.1:c.380A>G, XM_005251244.2:c.425A>T, XM_005251244.2:c.425A>G, XM_005251244.1:c.425A>T, XM_005251244.1:c.425A>G, XM_017013444.2:c.380A>T, XM_017013444.2:c.380A>G, XM_017013444.1:c.380A>T, XM_017013444.1:c.380A>G, XM_017013445.2:c.380A>T, XM_017013445.2:c.380A>G, XM_017013445.1:c.380A>T, XM_017013445.1:c.380A>G, XM_017013446.2:c.380A>T, XM_017013446.2:c.380A>G, XM_017013446.1:c.380A>T, XM_017013446.1:c.380A>G, XM_017013447.2:c.380A>T, XM_017013447.2:c.380A>G, XM_017013447.1:c.380A>T, XM_017013447.1:c.380A>G, XM_024447157.2:c.467A>T, XM_024447157.2:c.467A>G, XM_024447157.1:c.467A>T, XM_024447157.1:c.467A>G, XM_024447158.2:c.380A>T, XM_024447158.2:c.380A>G, XM_024447158.1:c.380A>T, XM_024447158.1:c.380A>G, XM_047421785.1:c.512A>T, XM_047421785.1:c.512A>G, XM_047421786.1:c.512A>T, XM_047421786.1:c.512A>G, XM_047421788.1:c.467A>T, XM_047421788.1:c.467A>G, XM_047421789.1:c.467A>T, XM_047421789.1:c.467A>G, XM_047421790.1:c.467A>T, XM_047421790.1:c.467A>G, XM_047421791.1:c.380A>T, XM_047421791.1:c.380A>G, XM_047421792.1:c.467A>T, XM_047421792.1:c.467A>G, XM_047421793.1:c.467A>T, XM_047421793.1:c.467A>G, NP_115857.1:p.His142Leu, NP_115857.1:p.His142Arg, NP_004309.2:p.His156Leu, NP_004309.2:p.His156Arg, NP_115855.1:p.His156Leu, NP_115855.1:p.His156Arg, NP_001158222.1:p.His127Leu, NP_001158222.1:p.His127Arg, NP_001158226.1:p.His156Leu, NP_001158226.1:p.His156Arg, NP_001158227.1:p.His156Leu, NP_001158227.1:p.His156Arg, NP_001158223.1:p.His142Leu, NP_001158223.1:p.His142Arg, NP_001158224.1:p.His142Leu, NP_001158224.1:p.His142Arg, NP_001158225.1:p.His142Leu, NP_001158225.1:p.His142Arg, XP_005251299.1:p.His156Leu, XP_005251299.1:p.His156Arg, XP_005251303.1:p.His156Leu, XP_005251303.1:p.His156Arg, XP_016868911.1:p.His156Leu, XP_016868911.1:p.His156Arg, XP_005251292.1:p.His171Leu, XP_005251292.1:p.His171Arg, XP_005251293.1:p.His171Leu, XP_005251293.1:p.His171Arg, XP_016868917.1:p.His156Leu, XP_016868917.1:p.His156Arg, XP_016868918.1:p.His156Leu, XP_016868918.1:p.His156Arg, XP_005251296.1:p.His171Leu, XP_005251296.1:p.His171Arg, XP_016868926.1:p.His156Leu, XP_016868926.1:p.His156Arg, XP_005251300.1:p.His171Leu, XP_005251300.1:p.His171Arg, XP_005251304.1:p.His171Leu, XP_005251304.1:p.His171Arg, XP_016868908.1:p.His171Leu, XP_016868908.1:p.His171Arg, XP_016868909.1:p.His171Leu, XP_016868909.1:p.His171Arg, XP_016868919.1:p.His171Leu, XP_016868919.1:p.His171Arg, XP_016868923.1:p.His171Leu, XP_016868923.1:p.His171Arg, XP_016868915.1:p.His142Leu, XP_016868915.1:p.His142Arg, XP_016868916.1:p.His142Leu, XP_016868916.1:p.His142Arg, XP_016868927.1:p.His171Leu, XP_016868927.1:p.His171Arg, XP_016868920.1:p.His127Leu, XP_016868920.1:p.His127Arg, XP_016868924.1:p.His142Leu, XP_016868924.1:p.His142Arg, XP_005251297.1:p.His142Leu, XP_005251297.1:p.His142Arg, XP_016868929.1:p.His142Leu, XP_016868929.1:p.His142Arg, XP_016868928.1:p.His127Leu, XP_016868928.1:p.His127Arg, XP_005251301.1:p.His142Leu, XP_005251301.1:p.His142Arg, XP_016868933.1:p.His127Leu, XP_016868933.1:p.His127Arg, XP_016868934.1:p.His127Leu, XP_016868934.1:p.His127Arg, XP_016868935.1:p.His127Leu, XP_016868935.1:p.His127Arg, XP_016868936.1:p.His127Leu, XP_016868936.1:p.His127Arg, XP_024302925.1:p.His156Leu, XP_024302925.1:p.His156Arg, XP_024302926.1:p.His127Leu, XP_024302926.1:p.His127Arg, XP_047277741.1:p.His171Leu, XP_047277741.1:p.His171Arg, XP_047277742.1:p.His171Leu, XP_047277742.1:p.His171Arg, XP_047277744.1:p.His156Leu, XP_047277744.1:p.His156Arg, XP_047277745.1:p.His156Leu, XP_047277745.1:p.His156Arg, XP_047277746.1:p.His156Leu, XP_047277746.1:p.His156Arg, XP_047277747.1:p.His127Leu, XP_047277747.1:p.His127Arg, XP_047277748.1:p.His156Leu, XP_047277748.1:p.His156Arg, XP_047277749.1:p.His156Leu, XP_047277749.1:p.His156Arg

                            14.

                            rs1434999629 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              8:61653636 (GRCh38)
                              8:62566195 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:61653635:T:C
                              Gene:
                              ASPH (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000008.11:g.61653636T>C, NC_000008.10:g.62566195T>C, NG_013210.1:g.66005A>G, NM_032468.5:c.305A>G, NM_032468.4:c.305A>G, NM_004318.4:c.347A>G, NM_004318.3:c.347A>G, NM_032466.4:c.347A>G, NM_032466.3:c.347A>G, NM_001164750.2:c.260A>G, NM_001164750.1:c.260A>G, NM_001164754.2:c.347A>G, NM_001164754.1:c.347A>G, NM_001164755.2:c.347A>G, NM_001164755.1:c.347A>G, NM_001164751.2:c.305A>G, NM_001164751.1:c.305A>G, NM_001164752.2:c.305A>G, NM_001164752.1:c.305A>G, NM_001164753.2:c.305A>G, NM_001164753.1:c.305A>G, XM_005251242.4:c.347A>G, XM_005251242.3:c.347A>G, XM_005251242.2:c.347A>G, XM_005251242.1:c.347A>G, XM_005251246.4:c.347A>G, XM_005251246.3:c.347A>G, XM_005251246.2:c.347A>G, XM_005251246.1:c.347A>G, XM_017013422.3:c.347A>G, XM_017013422.2:c.347A>G, XM_017013422.1:c.347A>G, XM_005251235.3:c.392A>G, XM_005251235.2:c.392A>G, XM_005251235.1:c.392A>G, XM_005251236.3:c.392A>G, XM_005251236.2:c.392A>G, XM_005251236.1:c.392A>G, XM_017013428.3:c.347A>G, XM_017013428.2:c.347A>G, XM_017013428.1:c.347A>G, XM_017013429.3:c.347A>G, XM_017013429.2:c.347A>G, XM_017013429.1:c.347A>G, XM_005251239.3:c.392A>G, XM_005251239.2:c.392A>G, XM_005251239.1:c.392A>G, XM_017013437.3:c.347A>G, XM_017013437.2:c.347A>G, XM_017013437.1:c.347A>G, XM_005251243.3:c.392A>G, XM_005251243.2:c.392A>G, XM_005251243.1:c.392A>G, XM_005251247.3:c.392A>G, XM_005251247.2:c.392A>G, XM_005251247.1:c.392A>G, XM_017013419.2:c.392A>G, XM_017013419.1:c.392A>G, XM_017013420.2:c.392A>G, XM_017013420.1:c.392A>G, XM_017013430.2:c.392A>G, XM_017013430.1:c.392A>G, XM_017013434.2:c.392A>G, XM_017013434.1:c.392A>G, XM_017013426.2:c.305A>G, XM_017013426.1:c.305A>G, XM_017013427.2:c.305A>G, XM_017013427.1:c.305A>G, XM_017013438.2:c.392A>G, XM_017013438.1:c.392A>G, XM_017013431.2:c.260A>G, XM_017013431.1:c.260A>G, XM_017013435.2:c.305A>G, XM_017013435.1:c.305A>G, XM_005251240.2:c.305A>G, XM_005251240.1:c.305A>G, XM_017013440.2:c.305A>G, XM_017013440.1:c.305A>G, XM_017013439.2:c.260A>G, XM_017013439.1:c.260A>G, XM_005251244.2:c.305A>G, XM_005251244.1:c.305A>G, XM_017013444.2:c.260A>G, XM_017013444.1:c.260A>G, XM_017013445.2:c.260A>G, XM_017013445.1:c.260A>G, XM_017013446.2:c.260A>G, XM_017013446.1:c.260A>G, XM_017013447.2:c.260A>G, XM_017013447.1:c.260A>G, XM_024447157.2:c.347A>G, XM_024447157.1:c.347A>G, XM_024447158.2:c.260A>G, XM_024447158.1:c.260A>G, XM_047421785.1:c.392A>G, XM_047421786.1:c.392A>G, XM_047421788.1:c.347A>G, XM_047421789.1:c.347A>G, XM_047421790.1:c.347A>G, XM_047421791.1:c.260A>G, XM_047421792.1:c.347A>G, XM_047421793.1:c.347A>G, NP_115857.1:p.Glu102Gly, NP_004309.2:p.Glu116Gly, NP_115855.1:p.Glu116Gly, NP_001158222.1:p.Glu87Gly, NP_001158226.1:p.Glu116Gly, NP_001158227.1:p.Glu116Gly, NP_001158223.1:p.Glu102Gly, NP_001158224.1:p.Glu102Gly, NP_001158225.1:p.Glu102Gly, XP_005251299.1:p.Glu116Gly, XP_005251303.1:p.Glu116Gly, XP_016868911.1:p.Glu116Gly, XP_005251292.1:p.Glu131Gly, XP_005251293.1:p.Glu131Gly, XP_016868917.1:p.Glu116Gly, XP_016868918.1:p.Glu116Gly, XP_005251296.1:p.Glu131Gly, XP_016868926.1:p.Glu116Gly, XP_005251300.1:p.Glu131Gly, XP_005251304.1:p.Glu131Gly, XP_016868908.1:p.Glu131Gly, XP_016868909.1:p.Glu131Gly, XP_016868919.1:p.Glu131Gly, XP_016868923.1:p.Glu131Gly, XP_016868915.1:p.Glu102Gly, XP_016868916.1:p.Glu102Gly, XP_016868927.1:p.Glu131Gly, XP_016868920.1:p.Glu87Gly, XP_016868924.1:p.Glu102Gly, XP_005251297.1:p.Glu102Gly, XP_016868929.1:p.Glu102Gly, XP_016868928.1:p.Glu87Gly, XP_005251301.1:p.Glu102Gly, XP_016868933.1:p.Glu87Gly, XP_016868934.1:p.Glu87Gly, XP_016868935.1:p.Glu87Gly, XP_016868936.1:p.Glu87Gly, XP_024302925.1:p.Glu116Gly, XP_024302926.1:p.Glu87Gly, XP_047277741.1:p.Glu131Gly, XP_047277742.1:p.Glu131Gly, XP_047277744.1:p.Glu116Gly, XP_047277745.1:p.Glu116Gly, XP_047277746.1:p.Glu116Gly, XP_047277747.1:p.Glu87Gly, XP_047277748.1:p.Glu116Gly, XP_047277749.1:p.Glu116Gly

                              15.

                              rs1432290316 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                CTTT>- [Show Flanks]
                                Chromosome:
                                8:61653652 (GRCh38)
                                8:62566211 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:61653650:TCTTT:T
                                Gene:
                                ASPH (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                -=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000008.11:g.61653652_61653655del, NC_000008.10:g.62566211_62566214del, NG_013210.1:g.65987_65990del, NM_032468.5:c.287_290del, NM_032468.4:c.287_290del, NM_004318.4:c.329_332del, NM_004318.3:c.329_332del, NM_032466.4:c.329_332del, NM_032466.3:c.329_332del, NM_001164750.2:c.242_245del, NM_001164750.1:c.242_245del, NM_001164754.2:c.329_332del, NM_001164754.1:c.329_332del, NM_001164755.2:c.329_332del, NM_001164755.1:c.329_332del, NM_001164751.2:c.287_290del, NM_001164751.1:c.287_290del, NM_001164752.2:c.287_290del, NM_001164752.1:c.287_290del, NM_001164753.2:c.287_290del, NM_001164753.1:c.287_290del, XM_005251242.4:c.329_332del, XM_005251242.3:c.329_332del, XM_005251242.2:c.329_332del, XM_005251242.1:c.329_332del, XM_005251246.4:c.329_332del, XM_005251246.3:c.329_332del, XM_005251246.2:c.329_332del, XM_005251246.1:c.329_332del, XM_017013422.3:c.329_332del, XM_017013422.2:c.329_332del, XM_017013422.1:c.329_332del, XM_005251235.3:c.374_377del, XM_005251235.2:c.374_377del, XM_005251235.1:c.374_377del, XM_005251236.3:c.374_377del, XM_005251236.2:c.374_377del, XM_005251236.1:c.374_377del, XM_017013428.3:c.329_332del, XM_017013428.2:c.329_332del, XM_017013428.1:c.329_332del, XM_017013429.3:c.329_332del, XM_017013429.2:c.329_332del, XM_017013429.1:c.329_332del, XM_005251239.3:c.374_377del, XM_005251239.2:c.374_377del, XM_005251239.1:c.374_377del, XM_017013437.3:c.329_332del, XM_017013437.2:c.329_332del, XM_017013437.1:c.329_332del, XM_005251243.3:c.374_377del, XM_005251243.2:c.374_377del, XM_005251243.1:c.374_377del, XM_005251247.3:c.374_377del, XM_005251247.2:c.374_377del, XM_005251247.1:c.374_377del, XM_017013419.2:c.374_377del, XM_017013419.1:c.374_377del, XM_017013420.2:c.374_377del, XM_017013420.1:c.374_377del, XM_017013430.2:c.374_377del, XM_017013430.1:c.374_377del, XM_017013434.2:c.374_377del, XM_017013434.1:c.374_377del, XM_017013426.2:c.287_290del, XM_017013426.1:c.287_290del, XM_017013427.2:c.287_290del, XM_017013427.1:c.287_290del, XM_017013438.2:c.374_377del, XM_017013438.1:c.374_377del, XM_017013431.2:c.242_245del, XM_017013431.1:c.242_245del, XM_017013435.2:c.287_290del, XM_017013435.1:c.287_290del, XM_005251240.2:c.287_290del, XM_005251240.1:c.287_290del, XM_017013440.2:c.287_290del, XM_017013440.1:c.287_290del, XM_017013439.2:c.242_245del, XM_017013439.1:c.242_245del, XM_005251244.2:c.287_290del, XM_005251244.1:c.287_290del, XM_017013444.2:c.242_245del, XM_017013444.1:c.242_245del, XM_017013445.2:c.242_245del, XM_017013445.1:c.242_245del, XM_017013446.2:c.242_245del, XM_017013446.1:c.242_245del, XM_017013447.2:c.242_245del, XM_017013447.1:c.242_245del, XM_024447157.2:c.329_332del, XM_024447157.1:c.329_332del, XM_024447158.2:c.242_245del, XM_024447158.1:c.242_245del, XM_047421785.1:c.374_377del, XM_047421786.1:c.374_377del, XM_047421788.1:c.329_332del, XM_047421789.1:c.329_332del, XM_047421790.1:c.329_332del, XM_047421791.1:c.242_245del, XM_047421792.1:c.329_332del, XM_047421793.1:c.329_332del, NP_115857.1:p.Lys96fs, NP_004309.2:p.Lys110fs, NP_115855.1:p.Lys110fs, NP_001158222.1:p.Lys81fs, NP_001158226.1:p.Lys110fs, NP_001158227.1:p.Lys110fs, NP_001158223.1:p.Lys96fs, NP_001158224.1:p.Lys96fs, NP_001158225.1:p.Lys96fs, XP_005251299.1:p.Lys110fs, XP_005251303.1:p.Lys110fs, XP_016868911.1:p.Lys110fs, XP_005251292.1:p.Lys125fs, XP_005251293.1:p.Lys125fs, XP_016868917.1:p.Lys110fs, XP_016868918.1:p.Lys110fs, XP_005251296.1:p.Lys125fs, XP_016868926.1:p.Lys110fs, XP_005251300.1:p.Lys125fs, XP_005251304.1:p.Lys125fs, XP_016868908.1:p.Lys125fs, XP_016868909.1:p.Lys125fs, XP_016868919.1:p.Lys125fs, XP_016868923.1:p.Lys125fs, XP_016868915.1:p.Lys96fs, XP_016868916.1:p.Lys96fs, XP_016868927.1:p.Lys125fs, XP_016868920.1:p.Lys81fs, XP_016868924.1:p.Lys96fs, XP_005251297.1:p.Lys96fs, XP_016868929.1:p.Lys96fs, XP_016868928.1:p.Lys81fs, XP_005251301.1:p.Lys96fs, XP_016868933.1:p.Lys81fs, XP_016868934.1:p.Lys81fs, XP_016868935.1:p.Lys81fs, XP_016868936.1:p.Lys81fs, XP_024302925.1:p.Lys110fs, XP_024302926.1:p.Lys81fs, XP_047277741.1:p.Lys125fs, XP_047277742.1:p.Lys125fs, XP_047277744.1:p.Lys110fs, XP_047277745.1:p.Lys110fs, XP_047277746.1:p.Lys110fs, XP_047277747.1:p.Lys81fs, XP_047277748.1:p.Lys110fs, XP_047277749.1:p.Lys110fs

                                16.

                                rs1430814901 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  8:61684049 (GRCh38)
                                  8:62596608 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:61684048:C:T
                                  Gene:
                                  ASPH (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000008.11:g.61684049C>T, NC_000008.10:g.62596608C>T, NG_013210.1:g.35592G>A, NM_032468.5:c.156G>A, NM_032468.4:c.156G>A, NM_020164.5:c.156G>A, NM_020164.4:c.156G>A, NM_004318.4:c.243G>A, NM_004318.3:c.243G>A, NM_032466.4:c.243G>A, NM_032466.3:c.243G>A, NM_032467.4:c.156G>A, NM_032467.3:c.156G>A, NM_001164750.2:c.156G>A, NM_001164750.1:c.156G>A, NM_001164754.2:c.243G>A, NM_001164754.1:c.243G>A, NM_001164755.2:c.243G>A, NM_001164755.1:c.243G>A, NM_001164751.2:c.156G>A, NM_001164751.1:c.156G>A, NM_001164752.2:c.156G>A, NM_001164752.1:c.156G>A, NM_001164753.2:c.156G>A, NM_001164753.1:c.156G>A, NM_001164756.2:c.243G>A, NM_001164756.1:c.243G>A, XM_005251242.4:c.243G>A, XM_005251242.3:c.243G>A, XM_005251242.2:c.243G>A, XM_005251242.1:c.243G>A, XM_005251246.4:c.243G>A, XM_005251246.3:c.243G>A, XM_005251246.2:c.243G>A, XM_005251246.1:c.243G>A, XM_017013422.3:c.243G>A, XM_017013422.2:c.243G>A, XM_017013422.1:c.243G>A, XM_005251235.3:c.243G>A, XM_005251235.2:c.243G>A, XM_005251235.1:c.243G>A, XM_005251236.3:c.243G>A, XM_005251236.2:c.243G>A, XM_005251236.1:c.243G>A, XM_017013428.3:c.243G>A, XM_017013428.2:c.243G>A, XM_017013428.1:c.243G>A, XM_017013429.3:c.243G>A, XM_017013429.2:c.243G>A, XM_017013429.1:c.243G>A, XM_005251239.3:c.243G>A, XM_005251239.2:c.243G>A, XM_005251239.1:c.243G>A, XM_017013437.3:c.243G>A, XM_017013437.2:c.243G>A, XM_017013437.1:c.243G>A, XM_005251243.3:c.243G>A, XM_005251243.2:c.243G>A, XM_005251243.1:c.243G>A, XM_005251247.3:c.243G>A, XM_005251247.2:c.243G>A, XM_005251247.1:c.243G>A, XM_017013419.2:c.243G>A, XM_017013419.1:c.243G>A, XM_017013420.2:c.243G>A, XM_017013420.1:c.243G>A, XM_017013430.2:c.243G>A, XM_017013430.1:c.243G>A, XM_017013434.2:c.243G>A, XM_017013434.1:c.243G>A, XM_017013426.2:c.156G>A, XM_017013426.1:c.156G>A, XM_017013427.2:c.156G>A, XM_017013427.1:c.156G>A, XM_017013438.2:c.243G>A, XM_017013438.1:c.243G>A, XM_017013431.2:c.156G>A, XM_017013431.1:c.156G>A, XM_017013435.2:c.156G>A, XM_017013435.1:c.156G>A, XM_005251240.2:c.156G>A, XM_005251240.1:c.156G>A, XM_017013440.2:c.156G>A, XM_017013440.1:c.156G>A, XM_017013439.2:c.156G>A, XM_017013439.1:c.156G>A, XM_005251244.2:c.156G>A, XM_005251244.1:c.156G>A, XM_017013444.2:c.156G>A, XM_017013444.1:c.156G>A, XM_017013445.2:c.156G>A, XM_017013445.1:c.156G>A, XM_017013446.2:c.156G>A, XM_017013446.1:c.156G>A, XM_017013447.2:c.156G>A, XM_017013447.1:c.156G>A, XM_024447157.2:c.243G>A, XM_024447157.1:c.243G>A, XM_024447158.2:c.156G>A, XM_024447158.1:c.156G>A, XM_024447159.2:c.156G>A, XM_024447159.1:c.156G>A, XM_047421785.1:c.243G>A, XM_047421786.1:c.243G>A, XM_047421788.1:c.243G>A, XM_047421789.1:c.243G>A, XM_047421790.1:c.243G>A, XM_047421791.1:c.156G>A, XM_047421792.1:c.243G>A, XM_047421793.1:c.243G>A

                                  17.

                                  rs1417292982 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    8:61646794 (GRCh38)
                                    8:62559353 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:61646793:A:G
                                    Gene:
                                    ASPH (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000008.11:g.61646794A>G, NC_000008.10:g.62559353A>G, NG_013210.1:g.72847T>C, NM_032468.5:c.533T>C, NM_032468.4:c.533T>C, NM_004318.4:c.575T>C, NM_004318.3:c.575T>C, NM_032466.4:c.575T>C, NM_032466.3:c.575T>C, NM_001164750.2:c.488T>C, NM_001164750.1:c.488T>C, NM_001164754.2:c.575T>C, NM_001164754.1:c.575T>C, NM_001164751.2:c.533T>C, NM_001164751.1:c.533T>C, NM_001164752.2:c.533T>C, NM_001164752.1:c.533T>C, XM_005251242.4:c.575T>C, XM_005251242.3:c.575T>C, XM_005251242.2:c.575T>C, XM_005251242.1:c.575T>C, XM_017013422.3:c.575T>C, XM_017013422.2:c.575T>C, XM_017013422.1:c.575T>C, XM_005251235.3:c.620T>C, XM_005251235.2:c.620T>C, XM_005251235.1:c.620T>C, XM_005251236.3:c.620T>C, XM_005251236.2:c.620T>C, XM_005251236.1:c.620T>C, XM_017013428.3:c.575T>C, XM_017013428.2:c.575T>C, XM_017013428.1:c.575T>C, XM_017013429.3:c.575T>C, XM_017013429.2:c.575T>C, XM_017013429.1:c.575T>C, XM_005251239.3:c.620T>C, XM_005251239.2:c.620T>C, XM_005251239.1:c.620T>C, XM_017013419.2:c.620T>C, XM_017013419.1:c.620T>C, XM_017013420.2:c.620T>C, XM_017013420.1:c.620T>C, XM_017013434.2:c.620T>C, XM_017013434.1:c.620T>C, XM_017013426.2:c.533T>C, XM_017013426.1:c.533T>C, XM_017013427.2:c.533T>C, XM_017013427.1:c.533T>C, XM_017013431.2:c.488T>C, XM_017013431.1:c.488T>C, XM_017013435.2:c.533T>C, XM_017013435.1:c.533T>C, XM_005251240.2:c.533T>C, XM_005251240.1:c.533T>C, XM_017013439.2:c.488T>C, XM_017013439.1:c.488T>C, XM_005251244.2:c.533T>C, XM_005251244.1:c.533T>C, XM_017013445.2:c.488T>C, XM_017013445.1:c.488T>C, XM_017013446.2:c.488T>C, XM_017013446.1:c.488T>C, XM_024447157.2:c.575T>C, XM_024447157.1:c.575T>C, XM_024447158.2:c.488T>C, XM_024447158.1:c.488T>C, XM_047421785.1:c.620T>C, XM_047421786.1:c.620T>C, XM_047421788.1:c.575T>C, XM_047421789.1:c.575T>C, XM_047421791.1:c.488T>C, XM_047421792.1:c.575T>C, NP_115857.1:p.Val178Ala, NP_004309.2:p.Val192Ala, NP_115855.1:p.Val192Ala, NP_001158222.1:p.Val163Ala, NP_001158226.1:p.Val192Ala, NP_001158223.1:p.Val178Ala, NP_001158224.1:p.Val178Ala, XP_005251299.1:p.Val192Ala, XP_016868911.1:p.Val192Ala, XP_005251292.1:p.Val207Ala, XP_005251293.1:p.Val207Ala, XP_016868917.1:p.Val192Ala, XP_016868918.1:p.Val192Ala, XP_005251296.1:p.Val207Ala, XP_016868908.1:p.Val207Ala, XP_016868909.1:p.Val207Ala, XP_016868923.1:p.Val207Ala, XP_016868915.1:p.Val178Ala, XP_016868916.1:p.Val178Ala, XP_016868920.1:p.Val163Ala, XP_016868924.1:p.Val178Ala, XP_005251297.1:p.Val178Ala, XP_016868928.1:p.Val163Ala, XP_005251301.1:p.Val178Ala, XP_016868934.1:p.Val163Ala, XP_016868935.1:p.Val163Ala, XP_024302925.1:p.Val192Ala, XP_024302926.1:p.Val163Ala, XP_047277741.1:p.Val207Ala, XP_047277742.1:p.Val207Ala, XP_047277744.1:p.Val192Ala, XP_047277745.1:p.Val192Ala, XP_047277747.1:p.Val163Ala, XP_047277748.1:p.Val192Ala

                                    18.

                                    rs1407464239 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      8:61643405 (GRCh38)
                                      8:62555964 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:61643404:T:G
                                      Gene:
                                      ASPH (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000011/3 (TOPMED)
                                      HGVS:
                                      NC_000008.11:g.61643405T>G, NC_000008.10:g.62555964T>G, NG_013210.1:g.76236A>C, NM_032468.5:c.696A>C, NM_032468.4:c.696A>C, NM_004318.4:c.738A>C, NM_004318.3:c.738A>C, NM_032466.4:c.738A>C, NM_032466.3:c.738A>C, NM_001164750.2:c.651A>C, NM_001164750.1:c.651A>C, NM_001164754.2:c.681A>C, NM_001164754.1:c.681A>C, NM_001164755.2:c.609A>C, NM_001164755.1:c.609A>C, NM_001164751.2:c.696A>C, NM_001164751.1:c.696A>C, NM_001164752.2:c.639A>C, NM_001164752.1:c.639A>C, NM_001164753.2:c.567A>C, NM_001164753.1:c.567A>C, XM_005251242.4:c.681A>C, XM_005251242.3:c.681A>C, XM_005251242.2:c.681A>C, XM_005251242.1:c.681A>C, XM_005251246.4:c.609A>C, XM_005251246.3:c.609A>C, XM_005251246.2:c.609A>C, XM_005251246.1:c.609A>C, XM_017013422.3:c.738A>C, XM_017013422.2:c.738A>C, XM_017013422.1:c.738A>C, XM_005251235.3:c.783A>C, XM_005251235.2:c.783A>C, XM_005251235.1:c.783A>C, XM_005251236.3:c.783A>C, XM_005251236.2:c.783A>C, XM_005251236.1:c.783A>C, XM_017013428.3:c.681A>C, XM_017013428.2:c.681A>C, XM_017013428.1:c.681A>C, XM_017013429.3:c.738A>C, XM_017013429.2:c.738A>C, XM_017013429.1:c.738A>C, XM_005251239.3:c.726A>C, XM_005251239.2:c.726A>C, XM_005251239.1:c.726A>C, XM_017013437.3:c.609A>C, XM_017013437.2:c.609A>C, XM_017013437.1:c.609A>C, XM_005251243.3:c.654A>C, XM_005251243.2:c.654A>C, XM_005251243.1:c.654A>C, XM_005251247.3:c.597A>C, XM_005251247.2:c.597A>C, XM_005251247.1:c.597A>C, XM_017013419.2:c.783A>C, XM_017013419.1:c.783A>C, XM_017013420.2:c.783A>C, XM_017013420.1:c.783A>C, XM_017013430.2:c.654A>C, XM_017013430.1:c.654A>C, XM_017013434.2:c.726A>C, XM_017013434.1:c.726A>C, XM_017013426.2:c.696A>C, XM_017013426.1:c.696A>C, XM_017013427.2:c.696A>C, XM_017013427.1:c.696A>C, XM_017013438.2:c.654A>C, XM_017013438.1:c.654A>C, XM_017013431.2:c.651A>C, XM_017013431.1:c.651A>C, XM_017013435.2:c.639A>C, XM_017013435.1:c.639A>C, XM_005251240.2:c.696A>C, XM_005251240.1:c.696A>C, XM_017013440.2:c.567A>C, XM_017013440.1:c.567A>C, XM_017013439.2:c.651A>C, XM_017013439.1:c.651A>C, XM_005251244.2:c.639A>C, XM_005251244.1:c.639A>C, XM_017013444.2:c.522A>C, XM_017013444.1:c.522A>C, XM_017013445.2:c.651A>C, XM_017013445.1:c.651A>C, XM_017013446.2:c.594A>C, XM_017013446.1:c.594A>C, XM_017013447.2:c.522A>C, XM_017013447.1:c.522A>C, XM_024447157.2:c.738A>C, XM_024447157.1:c.738A>C, XM_024447158.2:c.651A>C, XM_024447158.1:c.651A>C, XM_047421785.1:c.783A>C, XM_047421786.1:c.783A>C, XM_047421788.1:c.738A>C, XM_047421789.1:c.681A>C, XM_047421790.1:c.609A>C, XM_047421791.1:c.594A>C, XM_047421792.1:c.681A>C, XM_047421793.1:c.609A>C, NP_115857.1:p.Glu232Asp, NP_004309.2:p.Glu246Asp, NP_115855.1:p.Glu246Asp, NP_001158222.1:p.Glu217Asp, NP_001158226.1:p.Glu227Asp, NP_001158227.1:p.Glu203Asp, NP_001158223.1:p.Glu232Asp, NP_001158224.1:p.Glu213Asp, NP_001158225.1:p.Glu189Asp, XP_005251299.1:p.Glu227Asp, XP_005251303.1:p.Glu203Asp, XP_016868911.1:p.Glu246Asp, XP_005251292.1:p.Glu261Asp, XP_005251293.1:p.Glu261Asp, XP_016868917.1:p.Glu227Asp, XP_016868918.1:p.Glu246Asp, XP_005251296.1:p.Glu242Asp, XP_016868926.1:p.Glu203Asp, XP_005251300.1:p.Glu218Asp, XP_005251304.1:p.Glu199Asp, XP_016868908.1:p.Glu261Asp, XP_016868909.1:p.Glu261Asp, XP_016868919.1:p.Glu218Asp, XP_016868923.1:p.Glu242Asp, XP_016868915.1:p.Glu232Asp, XP_016868916.1:p.Glu232Asp, XP_016868927.1:p.Glu218Asp, XP_016868920.1:p.Glu217Asp, XP_016868924.1:p.Glu213Asp, XP_005251297.1:p.Glu232Asp, XP_016868929.1:p.Glu189Asp, XP_016868928.1:p.Glu217Asp, XP_005251301.1:p.Glu213Asp, XP_016868933.1:p.Glu174Asp, XP_016868934.1:p.Glu217Asp, XP_016868935.1:p.Glu198Asp, XP_016868936.1:p.Glu174Asp, XP_024302925.1:p.Glu246Asp, XP_024302926.1:p.Glu217Asp, XP_047277741.1:p.Glu261Asp, XP_047277742.1:p.Glu261Asp, XP_047277744.1:p.Glu246Asp, XP_047277745.1:p.Glu227Asp, XP_047277746.1:p.Glu203Asp, XP_047277747.1:p.Glu198Asp, XP_047277748.1:p.Glu227Asp, XP_047277749.1:p.Glu203Asp

                                      19.

                                      rs1399578745 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        8:61646869 (GRCh38)
                                        8:62559428 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:61646868:T:A
                                        Gene:
                                        ASPH (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000008.11:g.61646869T>A, NC_000008.10:g.62559428T>A, NG_013210.1:g.72772A>T, NM_032468.5:c.458A>T, NM_032468.4:c.458A>T, NM_004318.4:c.500A>T, NM_004318.3:c.500A>T, NM_032466.4:c.500A>T, NM_032466.3:c.500A>T, NM_001164750.2:c.413A>T, NM_001164750.1:c.413A>T, NM_001164754.2:c.500A>T, NM_001164754.1:c.500A>T, NM_001164751.2:c.458A>T, NM_001164751.1:c.458A>T, NM_001164752.2:c.458A>T, NM_001164752.1:c.458A>T, XM_005251242.4:c.500A>T, XM_005251242.3:c.500A>T, XM_005251242.2:c.500A>T, XM_005251242.1:c.500A>T, XM_017013422.3:c.500A>T, XM_017013422.2:c.500A>T, XM_017013422.1:c.500A>T, XM_005251235.3:c.545A>T, XM_005251235.2:c.545A>T, XM_005251235.1:c.545A>T, XM_005251236.3:c.545A>T, XM_005251236.2:c.545A>T, XM_005251236.1:c.545A>T, XM_017013428.3:c.500A>T, XM_017013428.2:c.500A>T, XM_017013428.1:c.500A>T, XM_017013429.3:c.500A>T, XM_017013429.2:c.500A>T, XM_017013429.1:c.500A>T, XM_005251239.3:c.545A>T, XM_005251239.2:c.545A>T, XM_005251239.1:c.545A>T, XM_017013419.2:c.545A>T, XM_017013419.1:c.545A>T, XM_017013420.2:c.545A>T, XM_017013420.1:c.545A>T, XM_017013434.2:c.545A>T, XM_017013434.1:c.545A>T, XM_017013426.2:c.458A>T, XM_017013426.1:c.458A>T, XM_017013427.2:c.458A>T, XM_017013427.1:c.458A>T, XM_017013431.2:c.413A>T, XM_017013431.1:c.413A>T, XM_017013435.2:c.458A>T, XM_017013435.1:c.458A>T, XM_005251240.2:c.458A>T, XM_005251240.1:c.458A>T, XM_017013439.2:c.413A>T, XM_017013439.1:c.413A>T, XM_005251244.2:c.458A>T, XM_005251244.1:c.458A>T, XM_017013445.2:c.413A>T, XM_017013445.1:c.413A>T, XM_017013446.2:c.413A>T, XM_017013446.1:c.413A>T, XM_024447157.2:c.500A>T, XM_024447157.1:c.500A>T, XM_024447158.2:c.413A>T, XM_024447158.1:c.413A>T, XM_047421785.1:c.545A>T, XM_047421786.1:c.545A>T, XM_047421788.1:c.500A>T, XM_047421789.1:c.500A>T, XM_047421791.1:c.413A>T, XM_047421792.1:c.500A>T, NP_115857.1:p.Glu153Val, NP_004309.2:p.Glu167Val, NP_115855.1:p.Glu167Val, NP_001158222.1:p.Glu138Val, NP_001158226.1:p.Glu167Val, NP_001158223.1:p.Glu153Val, NP_001158224.1:p.Glu153Val, XP_005251299.1:p.Glu167Val, XP_016868911.1:p.Glu167Val, XP_005251292.1:p.Glu182Val, XP_005251293.1:p.Glu182Val, XP_016868917.1:p.Glu167Val, XP_016868918.1:p.Glu167Val, XP_005251296.1:p.Glu182Val, XP_016868908.1:p.Glu182Val, XP_016868909.1:p.Glu182Val, XP_016868923.1:p.Glu182Val, XP_016868915.1:p.Glu153Val, XP_016868916.1:p.Glu153Val, XP_016868920.1:p.Glu138Val, XP_016868924.1:p.Glu153Val, XP_005251297.1:p.Glu153Val, XP_016868928.1:p.Glu138Val, XP_005251301.1:p.Glu153Val, XP_016868934.1:p.Glu138Val, XP_016868935.1:p.Glu138Val, XP_024302925.1:p.Glu167Val, XP_024302926.1:p.Glu138Val, XP_047277741.1:p.Glu182Val, XP_047277742.1:p.Glu182Val, XP_047277744.1:p.Glu167Val, XP_047277745.1:p.Glu167Val, XP_047277747.1:p.Glu138Val, XP_047277748.1:p.Glu167Val

                                        20.

                                        rs1397593044 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          8:61681017 (GRCh38)
                                          8:62593576 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:61681016:A:G
                                          Gene:
                                          ASPH (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000008.11:g.61681017A>G, NC_000008.10:g.62593576A>G, NG_013210.1:g.38624T>C, NM_032468.5:c.231T>C, NM_032468.4:c.231T>C, NM_020164.5:c.231T>C, NM_020164.4:c.231T>C, NM_004318.4:c.273T>C, NM_004318.3:c.273T>C, NM_032466.4:c.273T>C, NM_032466.3:c.273T>C, NM_032467.4:c.186T>C, NM_032467.3:c.186T>C, NM_001164750.2:c.186T>C, NM_001164750.1:c.186T>C, NM_001164754.2:c.273T>C, NM_001164754.1:c.273T>C, NM_001164755.2:c.273T>C, NM_001164755.1:c.273T>C, NM_001164751.2:c.231T>C, NM_001164751.1:c.231T>C, NM_001164752.2:c.231T>C, NM_001164752.1:c.231T>C, NM_001164753.2:c.231T>C, NM_001164753.1:c.231T>C, NM_001164756.2:c.318T>C, NM_001164756.1:c.318T>C, XM_005251242.4:c.273T>C, XM_005251242.3:c.273T>C, XM_005251242.2:c.273T>C, XM_005251242.1:c.273T>C, XM_005251246.4:c.273T>C, XM_005251246.3:c.273T>C, XM_005251246.2:c.273T>C, XM_005251246.1:c.273T>C, XM_017013422.3:c.273T>C, XM_017013422.2:c.273T>C, XM_017013422.1:c.273T>C, XM_005251235.3:c.318T>C, XM_005251235.2:c.318T>C, XM_005251235.1:c.318T>C, XM_005251236.3:c.318T>C, XM_005251236.2:c.318T>C, XM_005251236.1:c.318T>C, XM_017013428.3:c.273T>C, XM_017013428.2:c.273T>C, XM_017013428.1:c.273T>C, XM_017013429.3:c.273T>C, XM_017013429.2:c.273T>C, XM_017013429.1:c.273T>C, XM_005251239.3:c.318T>C, XM_005251239.2:c.318T>C, XM_005251239.1:c.318T>C, XM_017013437.3:c.273T>C, XM_017013437.2:c.273T>C, XM_017013437.1:c.273T>C, XM_005251243.3:c.318T>C, XM_005251243.2:c.318T>C, XM_005251243.1:c.318T>C, XM_005251247.3:c.318T>C, XM_005251247.2:c.318T>C, XM_005251247.1:c.318T>C, XM_017013419.2:c.318T>C, XM_017013419.1:c.318T>C, XM_017013420.2:c.318T>C, XM_017013420.1:c.318T>C, XM_017013430.2:c.318T>C, XM_017013430.1:c.318T>C, XM_017013434.2:c.318T>C, XM_017013434.1:c.318T>C, XM_017013426.2:c.231T>C, XM_017013426.1:c.231T>C, XM_017013427.2:c.231T>C, XM_017013427.1:c.231T>C, XM_017013438.2:c.318T>C, XM_017013438.1:c.318T>C, XM_017013431.2:c.186T>C, XM_017013431.1:c.186T>C, XM_017013435.2:c.231T>C, XM_017013435.1:c.231T>C, XM_005251240.2:c.231T>C, XM_005251240.1:c.231T>C, XM_017013440.2:c.231T>C, XM_017013440.1:c.231T>C, XM_017013439.2:c.186T>C, XM_017013439.1:c.186T>C, XM_005251244.2:c.231T>C, XM_005251244.1:c.231T>C, XM_017013444.2:c.186T>C, XM_017013444.1:c.186T>C, XM_017013445.2:c.186T>C, XM_017013445.1:c.186T>C, XM_017013446.2:c.186T>C, XM_017013446.1:c.186T>C, XM_017013447.2:c.186T>C, XM_017013447.1:c.186T>C, XM_024447157.2:c.273T>C, XM_024447157.1:c.273T>C, XM_024447158.2:c.186T>C, XM_024447158.1:c.186T>C, XM_024447159.2:c.231T>C, XM_024447159.1:c.231T>C, XM_047421785.1:c.318T>C, XM_047421786.1:c.318T>C, XM_047421788.1:c.273T>C, XM_047421789.1:c.273T>C, XM_047421790.1:c.273T>C, XM_047421791.1:c.186T>C, XM_047421792.1:c.273T>C, XM_047421793.1:c.273T>C

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