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Items: 1 to 20 of 810

1.

rs1487754992 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    8:129842167 (GRCh38)
    8:130854413 (GRCh37)
    Canonical SPDI:
    NC_000008.11:129842166:T:C
    Gene:
    CYRIB (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_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.129842167T>C, NC_000008.10:g.130854413T>C, NM_016623.5:c.950A>G, NM_016623.4:c.950A>G, XM_011517121.4:c.1292A>G, XM_011517121.3:c.950A>G, XM_011517121.2:c.950A>G, XM_011517121.1:c.950A>G, NM_001353244.2:c.950A>G, NM_001353244.1:c.950A>G, NM_001353259.2:c.950A>G, NM_001353259.1:c.950A>G, NM_001353315.2:c.950A>G, NM_001353315.1:c.950A>G, NM_001353242.2:c.950A>G, NM_001353242.1:c.950A>G, NM_001353243.2:c.950A>G, NM_001353243.1:c.950A>G, NM_001353254.2:c.950A>G, NM_001353254.1:c.950A>G, NM_001353296.2:c.512A>G, NM_001353296.1:c.512A>G, XM_024447180.2:c.950A>G, XM_024447180.1:c.950A>G, NM_001353267.2:c.950A>G, NM_001353267.1:c.950A>G, NM_001353300.2:c.512A>G, NM_001353300.1:c.512A>G, NM_001353312.2:c.950A>G, NM_001353312.1:c.950A>G, NM_001353261.2:c.950A>G, NM_001353261.1:c.950A>G, NM_001353268.2:c.950A>G, NM_001353268.1:c.950A>G, NM_001353287.2:c.512A>G, NM_001353287.1:c.512A>G, NM_001353311.2:c.950A>G, NM_001353311.1:c.950A>G, NM_001353307.2:c.950A>G, NM_001353307.1:c.950A>G, NM_001353258.2:c.950A>G, NM_001353258.1:c.950A>G, NM_001353248.2:c.950A>G, NM_001353248.1:c.950A>G, NM_001353264.2:c.950A>G, NM_001353264.1:c.950A>G, NM_001353289.2:c.512A>G, NM_001353289.1:c.512A>G, NM_001353314.2:c.950A>G, NM_001353314.1:c.950A>G, NM_001256763.2:c.950A>G, NM_001256763.1:c.950A>G, NM_001353256.2:c.950A>G, NM_001353256.1:c.950A>G, NM_001353265.2:c.950A>G, NM_001353265.1:c.950A>G, NM_001353310.2:c.950A>G, NM_001353310.1:c.950A>G, NM_001353262.2:c.950A>G, NM_001353262.1:c.950A>G, NM_001353316.2:c.926A>G, NM_001353316.1:c.926A>G, NM_001353290.2:c.512A>G, NM_001353290.1:c.512A>G, NM_001353285.2:c.512A>G, NM_001353285.1:c.512A>G, NM_001353306.2:c.950A>G, NM_001353306.1:c.950A>G, NM_001353260.2:c.950A>G, NM_001353260.1:c.950A>G, NM_001353294.2:c.512A>G, NM_001353294.1:c.512A>G, NM_001353298.2:c.512A>G, NM_001353298.1:c.512A>G, NM_001353284.2:c.512A>G, NM_001353284.1:c.512A>G, NM_001353257.2:c.950A>G, NM_001353257.1:c.950A>G, NM_001353313.2:c.950A>G, NM_001353313.1:c.950A>G, NM_001353292.2:c.512A>G, NM_001353292.1:c.512A>G, NM_001353291.2:c.512A>G, NM_001353291.1:c.512A>G, NM_001353263.2:c.950A>G, NM_001353263.1:c.950A>G, NM_001353299.2:c.512A>G, NM_001353299.1:c.512A>G, NM_001353295.2:c.512A>G, NM_001353295.1:c.512A>G, NM_001353266.2:c.950A>G, NM_001353266.1:c.950A>G, NM_001353276.2:c.512A>G, NM_001353276.1:c.512A>G, NM_001353286.2:c.512A>G, NM_001353286.1:c.512A>G, NM_001353288.2:c.512A>G, NM_001353288.1:c.512A>G, NM_001353283.2:c.512A>G, NM_001353283.1:c.512A>G, NM_001330612.2:c.512A>G, NM_001330612.1:c.512A>G, NM_001353293.2:c.512A>G, NM_001353293.1:c.512A>G, NM_001353301.2:c.512A>G, NM_001353301.1:c.512A>G, NM_001353282.2:c.512A>G, NM_001353282.1:c.512A>G, NM_001353297.2:c.512A>G, NM_001353297.1:c.512A>G, NR_046359.1:n.1617A>G, NR_046360.1:n.1527A>G, NR_046361.1:n.1517A>G, NM_001353251.1:c.950A>G, XM_047421856.1:c.950A>G, NM_001353309.1:c.950A>G, NM_001353255.1:c.950A>G, NM_001353253.1:c.950A>G, NM_001353275.1:c.512A>G, NM_001353247.1:c.950A>G, NM_001353245.1:c.950A>G, NM_001353272.1:c.512A>G, NM_001353302.1:c.950A>G, NM_001353250.1:c.950A>G, NM_001353279.1:c.512A>G, NM_001353304.1:c.950A>G, NM_001353246.1:c.950A>G, NM_001353303.1:c.950A>G, NM_001353270.1:c.512A>G, NM_001353278.1:c.512A>G, NM_001353281.1:c.512A>G, NM_001353308.1:c.950A>G, NM_001353249.1:c.950A>G, XM_047421855.1:c.1103A>G, NM_001353274.1:c.512A>G, NM_001353305.1:c.950A>G, NM_001353252.1:c.950A>G, NM_001353280.1:c.512A>G, NM_001353271.1:c.512A>G, NM_001353273.1:c.512A>G, NM_001353277.1:c.512A>G, XM_047421859.1:c.950A>G, XM_047421857.1:c.950A>G, NM_001353269.1:c.512A>G, NP_057707.3:p.Lys317Arg, XP_011515423.2:p.Lys431Arg, NP_001340173.1:p.Lys317Arg, NP_001340188.1:p.Lys317Arg, NP_001340244.1:p.Lys317Arg, NP_001340171.1:p.Lys317Arg, NP_001340172.1:p.Lys317Arg, NP_001340183.1:p.Lys317Arg, NP_001340225.1:p.Lys171Arg, XP_024302948.1:p.Lys317Arg, NP_001340196.1:p.Lys317Arg, NP_001340229.1:p.Lys171Arg, NP_001340241.1:p.Lys317Arg, NP_001340190.1:p.Lys317Arg, NP_001340197.1:p.Lys317Arg, NP_001340216.1:p.Lys171Arg, NP_001340240.1:p.Lys317Arg, NP_001340236.1:p.Lys317Arg, NP_001340187.1:p.Lys317Arg, NP_001340177.1:p.Lys317Arg, NP_001340193.1:p.Lys317Arg, NP_001340218.1:p.Lys171Arg, NP_001340243.1:p.Lys317Arg, NP_001243692.1:p.Lys317Arg, NP_001340185.1:p.Lys317Arg, NP_001340194.1:p.Lys317Arg, NP_001340239.1:p.Lys317Arg, NP_001340191.1:p.Lys317Arg, NP_001340245.1:p.Lys309Arg, NP_001340219.1:p.Lys171Arg, NP_001340214.1:p.Lys171Arg, NP_001340235.1:p.Lys317Arg, NP_001340189.1:p.Lys317Arg, NP_001340223.1:p.Lys171Arg, NP_001340227.1:p.Lys171Arg, NP_001340213.1:p.Lys171Arg, NP_001340186.1:p.Lys317Arg, NP_001340242.1:p.Lys317Arg, NP_001340221.1:p.Lys171Arg, NP_001340220.1:p.Lys171Arg, NP_001340192.1:p.Lys317Arg, NP_001340228.1:p.Lys171Arg, NP_001340224.1:p.Lys171Arg, NP_001340195.1:p.Lys317Arg, NP_001340205.1:p.Lys171Arg, NP_001340215.1:p.Lys171Arg, NP_001340217.1:p.Lys171Arg, NP_001340212.1:p.Lys171Arg, NP_001317541.1:p.Lys171Arg, NP_001340222.1:p.Lys171Arg, NP_001340230.1:p.Lys171Arg, NP_001340211.1:p.Lys171Arg, NP_001340226.1:p.Lys171Arg, NP_001340180.1:p.Lys317Arg, XP_047277812.1:p.Lys317Arg, NP_001340238.1:p.Lys317Arg, NP_001340184.1:p.Lys317Arg, NP_001340182.1:p.Lys317Arg, NP_001340204.1:p.Lys171Arg, NP_001340176.1:p.Lys317Arg, NP_001340174.1:p.Lys317Arg, NP_001340201.1:p.Lys171Arg, NP_001340231.1:p.Lys317Arg, NP_001340179.1:p.Lys317Arg, NP_001340208.1:p.Lys171Arg, NP_001340233.1:p.Lys317Arg, NP_001340175.1:p.Lys317Arg, NP_001340232.1:p.Lys317Arg, NP_001340199.1:p.Lys171Arg, NP_001340207.1:p.Lys171Arg, NP_001340210.1:p.Lys171Arg, NP_001340237.1:p.Lys317Arg, NP_001340178.1:p.Lys317Arg, XP_047277811.1:p.Lys368Arg, NP_001340203.1:p.Lys171Arg, NP_001340234.1:p.Lys317Arg, NP_001340181.1:p.Lys317Arg, NP_001340209.1:p.Lys171Arg, NP_001340200.1:p.Lys171Arg, NP_001340202.1:p.Lys171Arg, NP_001340206.1:p.Lys171Arg, XP_047277815.1:p.Lys317Arg, XP_047277813.1:p.Lys317Arg, NP_001340198.1:p.Lys171Arg

    2.

    rs1487599110 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      8:129970980 (GRCh38)
      8:130983226 (GRCh37)
      Canonical SPDI:
      NC_000008.11:129970979:G:A
      Gene:
      CYRIB (Varview)
      Functional Consequence:
      missense_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000224/1 (ALFA)
      A=0.000007/1 (GnomAD)
      A=0.00006/1 (TOMMO)
      A=0.000223/1 (Estonian)
      HGVS:
      NC_000008.11:g.129970980G>A, NC_000008.10:g.130983226G>A, XM_011517121.4:c.104C>T, XM_011517121.3:c.-239C>T, XM_011517121.2:c.-239C>T, XM_011517121.1:c.-239C>T, NM_001353259.2:c.-357C>T, NM_001353259.1:c.-357C>T, NM_001353242.2:c.-280C>T, NM_001353242.1:c.-280C>T, NM_001353243.2:c.-270C>T, NM_001353243.1:c.-270C>T, NM_001353254.2:c.-257C>T, NM_001353254.1:c.-257C>T, XM_024447180.2:c.-239C>T, XM_024447180.1:c.-239C>T, NM_001353312.2:c.-220C>T, NM_001353312.1:c.-220C>T, NM_001353261.2:c.-220C>T, NM_001353261.1:c.-220C>T, NM_001353287.2:c.-620C>T, NM_001353287.1:c.-620C>T, NM_001353307.2:c.-174C>T, NM_001353307.1:c.-174C>T, NM_001353258.2:c.-174C>T, NM_001353258.1:c.-174C>T, NM_001353248.2:c.-170C>T, NM_001353248.1:c.-170C>T, NM_001353289.2:c.-575C>T, NM_001353289.1:c.-575C>T, NM_001353256.2:c.-133C>T, NM_001353256.1:c.-133C>T, NM_001353316.2:c.-134C>T, NM_001353316.1:c.-134C>T, NM_001353290.2:c.-537C>T, NM_001353290.1:c.-537C>T, NM_001353285.2:c.-529C>T, NM_001353285.1:c.-529C>T, NM_001353306.2:c.-87C>T, NM_001353306.1:c.-87C>T, NM_001353260.2:c.-87C>T, NM_001353260.1:c.-87C>T, NM_001353294.2:c.-506C>T, NM_001353294.1:c.-506C>T, NM_001353284.2:c.-488C>T, NM_001353284.1:c.-488C>T, NM_001353257.2:c.-48C>T, NM_001353257.1:c.-48C>T, NM_001353291.2:c.-473C>T, NM_001353291.1:c.-473C>T, NM_001353276.2:c.-442C>T, NM_001353276.1:c.-442C>T, NM_001353286.2:c.-423C>T, NM_001353286.1:c.-423C>T, NM_001353288.2:c.-419C>T, NM_001353288.1:c.-419C>T, NM_001353283.2:c.-403C>T, NM_001353283.1:c.-403C>T, NM_001353282.2:c.-336C>T, NM_001353282.1:c.-336C>T, NR_046360.1:n.298C>T, NR_046361.1:n.298C>T, NM_001353251.1:c.-403C>T, XM_047421856.1:c.-245C>T, NM_001353309.1:c.-280C>T, NM_001353255.1:c.-280C>T, NM_001353253.1:c.-270C>T, NM_001353275.1:c.-703C>T, NM_001353247.1:c.-220C>T, NM_001353245.1:c.-174C>T, NM_001353272.1:c.-620C>T, NM_001353302.1:c.-174C>T, NM_001353250.1:c.-174C>T, NM_001353279.1:c.-575C>T, NM_001353303.1:c.-118C>T, NM_001353270.1:c.-529C>T, NM_001353278.1:c.-537C>T, NM_001353281.1:c.-529C>T, NM_001353308.1:c.-87C>T, NM_001353249.1:c.-87C>T, XM_047421855.1:c.104C>T, NM_001353280.1:c.-450C>T, NM_001353271.1:c.-442C>T, NM_001353273.1:c.-419C>T, NM_001353277.1:c.-403C>T, NM_001353269.1:c.-336C>T, XP_011515423.2:p.Ala35Val, XP_047277811.1:p.Ala35Val

      3.

      rs1487560947 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        8:129871392 (GRCh38)
        8:130883638 (GRCh37)
        Canonical SPDI:
        NC_000008.11:129871391:C:G
        Gene:
        CYRIB (Varview)
        Functional Consequence:
        missense_variant,5_prime_UTR_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000008.11:g.129871392C>G, NC_000008.10:g.130883638C>G, NM_016623.5:c.178G>C, NM_016623.4:c.178G>C, XM_011517121.4:c.520G>C, XM_011517121.3:c.178G>C, XM_011517121.2:c.178G>C, XM_011517121.1:c.178G>C, NM_001353244.2:c.178G>C, NM_001353244.1:c.178G>C, NM_001353259.2:c.178G>C, NM_001353259.1:c.178G>C, NM_001353315.2:c.178G>C, NM_001353315.1:c.178G>C, NM_001353242.2:c.178G>C, NM_001353242.1:c.178G>C, NM_001353243.2:c.178G>C, NM_001353243.1:c.178G>C, NM_001353254.2:c.178G>C, NM_001353254.1:c.178G>C, NM_001353296.2:c.-261G>C, NM_001353296.1:c.-261G>C, XM_024447180.2:c.178G>C, XM_024447180.1:c.178G>C, NM_001353267.2:c.178G>C, NM_001353267.1:c.178G>C, NM_001353300.2:c.-261G>C, NM_001353300.1:c.-261G>C, NM_001353312.2:c.178G>C, NM_001353312.1:c.178G>C, NM_001353261.2:c.178G>C, NM_001353261.1:c.178G>C, NM_001353268.2:c.178G>C, NM_001353268.1:c.178G>C, NM_001353287.2:c.-261G>C, NM_001353287.1:c.-261G>C, NM_001353311.2:c.178G>C, NM_001353311.1:c.178G>C, NM_001353307.2:c.178G>C, NM_001353307.1:c.178G>C, NM_001353258.2:c.178G>C, NM_001353258.1:c.178G>C, NM_001353248.2:c.178G>C, NM_001353248.1:c.178G>C, NM_001353264.2:c.178G>C, NM_001353264.1:c.178G>C, NM_001353289.2:c.-261G>C, NM_001353289.1:c.-261G>C, NM_001353314.2:c.178G>C, NM_001353314.1:c.178G>C, NM_001256763.2:c.178G>C, NM_001256763.1:c.178G>C, NM_001353256.2:c.178G>C, NM_001353256.1:c.178G>C, NM_001353265.2:c.178G>C, NM_001353265.1:c.178G>C, NM_001353310.2:c.178G>C, NM_001353310.1:c.178G>C, NM_001353262.2:c.178G>C, NM_001353262.1:c.178G>C, NM_001353316.2:c.154G>C, NM_001353316.1:c.154G>C, NM_001353290.2:c.-261G>C, NM_001353290.1:c.-261G>C, NM_001353285.2:c.-261G>C, NM_001353285.1:c.-261G>C, NM_001353306.2:c.178G>C, NM_001353306.1:c.178G>C, NM_001353260.2:c.178G>C, NM_001353260.1:c.178G>C, NM_001353294.2:c.-155G>C, NM_001353294.1:c.-155G>C, NM_001353298.2:c.-261G>C, NM_001353298.1:c.-261G>C, NM_001353284.2:c.-261G>C, NM_001353284.1:c.-261G>C, NM_001353257.2:c.178G>C, NM_001353257.1:c.178G>C, NM_001353313.2:c.178G>C, NM_001353313.1:c.178G>C, NM_001353292.2:c.-261G>C, NM_001353292.1:c.-261G>C, NM_001353291.2:c.-261G>C, NM_001353291.1:c.-261G>C, NM_001353263.2:c.178G>C, NM_001353263.1:c.178G>C, NM_001353299.2:c.-155G>C, NM_001353299.1:c.-155G>C, NM_001353295.2:c.-155G>C, NM_001353295.1:c.-155G>C, NM_001353266.2:c.178G>C, NM_001353266.1:c.178G>C, NM_001353276.2:c.-261G>C, NM_001353276.1:c.-261G>C, NM_001353286.2:c.-155G>C, NM_001353286.1:c.-155G>C, NM_001353288.2:c.-155G>C, NM_001353288.1:c.-155G>C, NM_001353283.2:c.-261G>C, NM_001353283.1:c.-261G>C, NM_001330612.2:c.-261G>C, NM_001330612.1:c.-261G>C, NM_001353293.2:c.-261G>C, NM_001353293.1:c.-261G>C, NM_001353301.2:c.-155G>C, NM_001353301.1:c.-155G>C, NM_001353282.2:c.-155G>C, NM_001353282.1:c.-155G>C, NM_001353297.2:c.-155G>C, NM_001353297.1:c.-155G>C, NR_046359.1:n.845G>C, NR_046360.1:n.755G>C, NR_046361.1:n.745G>C, NM_001353251.1:c.178G>C, XM_047421856.1:c.178G>C, NM_001353309.1:c.178G>C, NM_001353255.1:c.178G>C, NM_001353253.1:c.178G>C, NM_001353275.1:c.-261G>C, NM_001353247.1:c.178G>C, NM_001353245.1:c.178G>C, NM_001353272.1:c.-261G>C, NM_001353302.1:c.178G>C, NM_001353250.1:c.178G>C, NM_001353279.1:c.-261G>C, NM_001353304.1:c.178G>C, NM_001353246.1:c.178G>C, NM_001353303.1:c.178G>C, NM_001353270.1:c.-261G>C, NM_001353278.1:c.-261G>C, NM_001353281.1:c.-261G>C, NM_001353308.1:c.178G>C, NM_001353249.1:c.178G>C, XM_047421855.1:c.331G>C, NM_001353274.1:c.-261G>C, NM_001353305.1:c.178G>C, NM_001353252.1:c.178G>C, NM_001353280.1:c.-261G>C, NM_001353271.1:c.-261G>C, NM_001353273.1:c.-155G>C, NM_001353277.1:c.-261G>C, XM_047421859.1:c.178G>C, XM_047421857.1:c.178G>C, NM_001353269.1:c.-155G>C, NP_057707.3:p.Gly60Arg, XP_011515423.2:p.Gly174Arg, NP_001340173.1:p.Gly60Arg, NP_001340188.1:p.Gly60Arg, NP_001340244.1:p.Gly60Arg, NP_001340171.1:p.Gly60Arg, NP_001340172.1:p.Gly60Arg, NP_001340183.1:p.Gly60Arg, XP_024302948.1:p.Gly60Arg, NP_001340196.1:p.Gly60Arg, NP_001340241.1:p.Gly60Arg, NP_001340190.1:p.Gly60Arg, NP_001340197.1:p.Gly60Arg, NP_001340240.1:p.Gly60Arg, NP_001340236.1:p.Gly60Arg, NP_001340187.1:p.Gly60Arg, NP_001340177.1:p.Gly60Arg, NP_001340193.1:p.Gly60Arg, NP_001340243.1:p.Gly60Arg, NP_001243692.1:p.Gly60Arg, NP_001340185.1:p.Gly60Arg, NP_001340194.1:p.Gly60Arg, NP_001340239.1:p.Gly60Arg, NP_001340191.1:p.Gly60Arg, NP_001340245.1:p.Gly52Arg, NP_001340235.1:p.Gly60Arg, NP_001340189.1:p.Gly60Arg, NP_001340186.1:p.Gly60Arg, NP_001340242.1:p.Gly60Arg, NP_001340192.1:p.Gly60Arg, NP_001340195.1:p.Gly60Arg, NP_001340180.1:p.Gly60Arg, XP_047277812.1:p.Gly60Arg, NP_001340238.1:p.Gly60Arg, NP_001340184.1:p.Gly60Arg, NP_001340182.1:p.Gly60Arg, NP_001340176.1:p.Gly60Arg, NP_001340174.1:p.Gly60Arg, NP_001340231.1:p.Gly60Arg, NP_001340179.1:p.Gly60Arg, NP_001340233.1:p.Gly60Arg, NP_001340175.1:p.Gly60Arg, NP_001340232.1:p.Gly60Arg, NP_001340237.1:p.Gly60Arg, NP_001340178.1:p.Gly60Arg, XP_047277811.1:p.Gly111Arg, NP_001340234.1:p.Gly60Arg, NP_001340181.1:p.Gly60Arg, XP_047277815.1:p.Gly60Arg, XP_047277813.1:p.Gly60Arg

        4.

        rs1485609200 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          8:129840132 (GRCh38)
          8:130852378 (GRCh37)
          Canonical SPDI:
          NC_000008.11:129840131:C:A
          Gene:
          CYRIB (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          HGVS:
          NC_000008.11:g.129840132C>A, NC_000008.10:g.130852378C>A, NM_016623.5:c.*2010G>T, NM_016623.4:c.*2010G>T, XM_011517121.4:c.*2010G>T, NM_001353244.2:c.*2010G>T, NM_001353244.1:c.*2010G>T, NM_001353259.2:c.*2010G>T, NM_001353259.1:c.*2010G>T, NM_001353315.2:c.*2010G>T, NM_001353315.1:c.*2010G>T, NM_001353242.2:c.*2010G>T, NM_001353242.1:c.*2010G>T, NM_001353243.2:c.*2010G>T, NM_001353243.1:c.*2010G>T, NM_001353254.2:c.*2010G>T, NM_001353254.1:c.*2010G>T, NM_001353296.2:c.*2010G>T, NM_001353296.1:c.*2010G>T, XM_024447180.2:c.*2010G>T, NM_001353267.2:c.*2010G>T, NM_001353267.1:c.*2010G>T, NM_001353300.2:c.*2010G>T, NM_001353300.1:c.*2010G>T, NM_001353312.2:c.*2010G>T, NM_001353312.1:c.*2010G>T, NM_001353261.2:c.*2010G>T, NM_001353261.1:c.*2010G>T, NM_001353268.2:c.*2010G>T, NM_001353268.1:c.*2010G>T, NM_001353287.2:c.*2010G>T, NM_001353287.1:c.*2010G>T, NM_001353311.2:c.*2010G>T, NM_001353311.1:c.*2010G>T, NM_001353307.2:c.*2010G>T, NM_001353307.1:c.*2010G>T, NM_001353258.2:c.*2010G>T, NM_001353258.1:c.*2010G>T, NM_001353248.2:c.*2010G>T, NM_001353248.1:c.*2010G>T, NM_001353264.2:c.*2010G>T, NM_001353264.1:c.*2010G>T, NM_001353289.2:c.*2010G>T, NM_001353289.1:c.*2010G>T, NM_001353314.2:c.*2010G>T, NM_001353314.1:c.*2010G>T, NM_001256763.2:c.*2010G>T, NM_001256763.1:c.*2010G>T, NM_001353256.2:c.*2010G>T, NM_001353256.1:c.*2010G>T, NM_001353265.2:c.*2010G>T, NM_001353265.1:c.*2010G>T, NM_001353310.2:c.*2010G>T, NM_001353310.1:c.*2010G>T, NM_001353262.2:c.*2010G>T, NM_001353262.1:c.*2010G>T, NM_001353316.2:c.*2010G>T, NM_001353316.1:c.*2010G>T, NM_001353290.2:c.*2010G>T, NM_001353290.1:c.*2010G>T, NM_001353285.2:c.*2010G>T, NM_001353285.1:c.*2010G>T, NM_001353306.2:c.*2010G>T, NM_001353306.1:c.*2010G>T, NM_001353260.2:c.*2010G>T, NM_001353260.1:c.*2010G>T, NM_001353294.2:c.*2010G>T, NM_001353294.1:c.*2010G>T, NM_001353298.2:c.*2010G>T, NM_001353298.1:c.*2010G>T, NM_001353284.2:c.*2010G>T, NM_001353284.1:c.*2010G>T, NM_001353257.2:c.*2010G>T, NM_001353257.1:c.*2010G>T, NM_001353313.2:c.*2010G>T, NM_001353313.1:c.*2010G>T, NM_001353292.2:c.*2010G>T, NM_001353292.1:c.*2010G>T, NM_001353291.2:c.*2010G>T, NM_001353291.1:c.*2010G>T, NM_001353263.2:c.*2010G>T, NM_001353263.1:c.*2010G>T, NM_001353299.2:c.*2010G>T, NM_001353299.1:c.*2010G>T, NM_001353295.2:c.*2010G>T, NM_001353295.1:c.*2010G>T, NM_001353266.2:c.*2010G>T, NM_001353266.1:c.*2010G>T, NM_001353276.2:c.*2010G>T, NM_001353276.1:c.*2010G>T, NM_001353286.2:c.*2010G>T, NM_001353286.1:c.*2010G>T, NM_001353288.2:c.*2010G>T, NM_001353288.1:c.*2010G>T, NM_001353283.2:c.*2010G>T, NM_001353283.1:c.*2010G>T, NM_001330612.2:c.*2010G>T, NM_001330612.1:c.*2010G>T, NM_001353293.2:c.*2010G>T, NM_001353293.1:c.*2010G>T, NM_001353301.2:c.*2010G>T, NM_001353301.1:c.*2010G>T, NM_001353282.2:c.*2010G>T, NM_001353282.1:c.*2010G>T, NM_001353297.2:c.*2010G>T, NM_001353297.1:c.*2010G>T, NR_046359.1:n.3652G>T, NR_046360.1:n.3562G>T, NR_046361.1:n.3552G>T, NM_001353251.1:c.*2010G>T, XM_047421856.1:c.*2010G>T, NM_001353309.1:c.*2010G>T, NM_001353255.1:c.*2010G>T, NM_001353253.1:c.*2010G>T, NM_001353275.1:c.*2010G>T, NM_001353247.1:c.*2010G>T, NM_001353245.1:c.*2010G>T, NM_001353272.1:c.*2010G>T, NM_001353302.1:c.*2010G>T, NM_001353250.1:c.*2010G>T, NM_001353279.1:c.*2010G>T, NM_001353304.1:c.*2010G>T, NM_001353246.1:c.*2010G>T, NM_001353303.1:c.*2010G>T, NM_001353270.1:c.*2010G>T, NM_001353278.1:c.*2010G>T, NM_001353281.1:c.*2010G>T, NM_001353308.1:c.*2010G>T, NM_001353249.1:c.*2010G>T, XM_047421855.1:c.*2010G>T, NM_001353274.1:c.*2010G>T, NM_001353305.1:c.*2010G>T, NM_001353252.1:c.*2010G>T, NM_001353280.1:c.*2010G>T, NM_001353271.1:c.*2010G>T, NM_001353273.1:c.*2010G>T, NM_001353277.1:c.*2010G>T, XM_047421859.1:c.*2010G>T, XM_047421857.1:c.*2010G>T, NM_001353269.1:c.*2010G>T

          5.

          rs1485575929 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            8:129840273 (GRCh38)
            8:130852519 (GRCh37)
            Canonical SPDI:
            NC_000008.11:129840272:T:C
            Gene:
            CYRIB (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            C=0.000008/2 (TOPMED)
            HGVS:
            NC_000008.11:g.129840273T>C, NC_000008.10:g.130852519T>C, NM_016623.5:c.*1869A>G, NM_016623.4:c.*1869A>G, XM_011517121.4:c.*1869A>G, NM_001353244.2:c.*1869A>G, NM_001353244.1:c.*1869A>G, NM_001353259.2:c.*1869A>G, NM_001353259.1:c.*1869A>G, NM_001353315.2:c.*1869A>G, NM_001353315.1:c.*1869A>G, NM_001353242.2:c.*1869A>G, NM_001353242.1:c.*1869A>G, NM_001353243.2:c.*1869A>G, NM_001353243.1:c.*1869A>G, NM_001353254.2:c.*1869A>G, NM_001353254.1:c.*1869A>G, NM_001353296.2:c.*1869A>G, NM_001353296.1:c.*1869A>G, XM_024447180.2:c.*1869A>G, NM_001353267.2:c.*1869A>G, NM_001353267.1:c.*1869A>G, NM_001353300.2:c.*1869A>G, NM_001353300.1:c.*1869A>G, NM_001353312.2:c.*1869A>G, NM_001353312.1:c.*1869A>G, NM_001353261.2:c.*1869A>G, NM_001353261.1:c.*1869A>G, NM_001353268.2:c.*1869A>G, NM_001353268.1:c.*1869A>G, NM_001353287.2:c.*1869A>G, NM_001353287.1:c.*1869A>G, NM_001353311.2:c.*1869A>G, NM_001353311.1:c.*1869A>G, NM_001353307.2:c.*1869A>G, NM_001353307.1:c.*1869A>G, NM_001353258.2:c.*1869A>G, NM_001353258.1:c.*1869A>G, NM_001353248.2:c.*1869A>G, NM_001353248.1:c.*1869A>G, NM_001353264.2:c.*1869A>G, NM_001353264.1:c.*1869A>G, NM_001353289.2:c.*1869A>G, NM_001353289.1:c.*1869A>G, NM_001353314.2:c.*1869A>G, NM_001353314.1:c.*1869A>G, NM_001256763.2:c.*1869A>G, NM_001256763.1:c.*1869A>G, NM_001353256.2:c.*1869A>G, NM_001353256.1:c.*1869A>G, NM_001353265.2:c.*1869A>G, NM_001353265.1:c.*1869A>G, NM_001353310.2:c.*1869A>G, NM_001353310.1:c.*1869A>G, NM_001353262.2:c.*1869A>G, NM_001353262.1:c.*1869A>G, NM_001353316.2:c.*1869A>G, NM_001353316.1:c.*1869A>G, NM_001353290.2:c.*1869A>G, NM_001353290.1:c.*1869A>G, NM_001353285.2:c.*1869A>G, NM_001353285.1:c.*1869A>G, NM_001353306.2:c.*1869A>G, NM_001353306.1:c.*1869A>G, NM_001353260.2:c.*1869A>G, NM_001353260.1:c.*1869A>G, NM_001353294.2:c.*1869A>G, NM_001353294.1:c.*1869A>G, NM_001353298.2:c.*1869A>G, NM_001353298.1:c.*1869A>G, NM_001353284.2:c.*1869A>G, NM_001353284.1:c.*1869A>G, NM_001353257.2:c.*1869A>G, NM_001353257.1:c.*1869A>G, NM_001353313.2:c.*1869A>G, NM_001353313.1:c.*1869A>G, NM_001353292.2:c.*1869A>G, NM_001353292.1:c.*1869A>G, NM_001353291.2:c.*1869A>G, NM_001353291.1:c.*1869A>G, NM_001353263.2:c.*1869A>G, NM_001353263.1:c.*1869A>G, NM_001353299.2:c.*1869A>G, NM_001353299.1:c.*1869A>G, NM_001353295.2:c.*1869A>G, NM_001353295.1:c.*1869A>G, NM_001353266.2:c.*1869A>G, NM_001353266.1:c.*1869A>G, NM_001353276.2:c.*1869A>G, NM_001353276.1:c.*1869A>G, NM_001353286.2:c.*1869A>G, NM_001353286.1:c.*1869A>G, NM_001353288.2:c.*1869A>G, NM_001353288.1:c.*1869A>G, NM_001353283.2:c.*1869A>G, NM_001353283.1:c.*1869A>G, NM_001330612.2:c.*1869A>G, NM_001330612.1:c.*1869A>G, NM_001353293.2:c.*1869A>G, NM_001353293.1:c.*1869A>G, NM_001353301.2:c.*1869A>G, NM_001353301.1:c.*1869A>G, NM_001353282.2:c.*1869A>G, NM_001353282.1:c.*1869A>G, NM_001353297.2:c.*1869A>G, NM_001353297.1:c.*1869A>G, NR_046359.1:n.3511A>G, NR_046360.1:n.3421A>G, NR_046361.1:n.3411A>G, NM_001353251.1:c.*1869A>G, XM_047421856.1:c.*1869A>G, NM_001353309.1:c.*1869A>G, NM_001353255.1:c.*1869A>G, NM_001353253.1:c.*1869A>G, NM_001353275.1:c.*1869A>G, NM_001353247.1:c.*1869A>G, NM_001353245.1:c.*1869A>G, NM_001353272.1:c.*1869A>G, NM_001353302.1:c.*1869A>G, NM_001353250.1:c.*1869A>G, NM_001353279.1:c.*1869A>G, NM_001353304.1:c.*1869A>G, NM_001353246.1:c.*1869A>G, NM_001353303.1:c.*1869A>G, NM_001353270.1:c.*1869A>G, NM_001353278.1:c.*1869A>G, NM_001353281.1:c.*1869A>G, NM_001353308.1:c.*1869A>G, NM_001353249.1:c.*1869A>G, XM_047421855.1:c.*1869A>G, NM_001353274.1:c.*1869A>G, NM_001353305.1:c.*1869A>G, NM_001353252.1:c.*1869A>G, NM_001353280.1:c.*1869A>G, NM_001353271.1:c.*1869A>G, NM_001353273.1:c.*1869A>G, NM_001353277.1:c.*1869A>G, XM_047421859.1:c.*1869A>G, XM_047421857.1:c.*1869A>G, NM_001353269.1:c.*1869A>G

            6.

            rs1484687594 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              8:129854296 (GRCh38)
              8:130866542 (GRCh37)
              Canonical SPDI:
              NC_000008.11:129854295:T:C
              Gene:
              CYRIB (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000008.11:g.129854296T>C, NC_000008.10:g.130866542T>C, NM_016623.5:c.486A>G, NM_016623.4:c.486A>G, XM_011517121.4:c.828A>G, XM_011517121.3:c.486A>G, XM_011517121.2:c.486A>G, XM_011517121.1:c.486A>G, NM_001353244.2:c.486A>G, NM_001353244.1:c.486A>G, NM_001353259.2:c.486A>G, NM_001353259.1:c.486A>G, NM_001353315.2:c.486A>G, NM_001353315.1:c.486A>G, NM_001353242.2:c.486A>G, NM_001353242.1:c.486A>G, NM_001353243.2:c.486A>G, NM_001353243.1:c.486A>G, NM_001353254.2:c.486A>G, NM_001353254.1:c.486A>G, NM_001353296.2:c.48A>G, NM_001353296.1:c.48A>G, XM_024447180.2:c.486A>G, XM_024447180.1:c.486A>G, NM_001353267.2:c.486A>G, NM_001353267.1:c.486A>G, NM_001353300.2:c.48A>G, NM_001353300.1:c.48A>G, NM_001353312.2:c.486A>G, NM_001353312.1:c.486A>G, NM_001353261.2:c.486A>G, NM_001353261.1:c.486A>G, NM_001353268.2:c.486A>G, NM_001353268.1:c.486A>G, NM_001353287.2:c.48A>G, NM_001353287.1:c.48A>G, NM_001353311.2:c.486A>G, NM_001353311.1:c.486A>G, NM_001353307.2:c.486A>G, NM_001353307.1:c.486A>G, NM_001353258.2:c.486A>G, NM_001353258.1:c.486A>G, NM_001353248.2:c.486A>G, NM_001353248.1:c.486A>G, NM_001353264.2:c.486A>G, NM_001353264.1:c.486A>G, NM_001353289.2:c.48A>G, NM_001353289.1:c.48A>G, NM_001353314.2:c.486A>G, NM_001353314.1:c.486A>G, NM_001256763.2:c.486A>G, NM_001256763.1:c.486A>G, NM_001353256.2:c.486A>G, NM_001353256.1:c.486A>G, NM_001353265.2:c.486A>G, NM_001353265.1:c.486A>G, NM_001353310.2:c.486A>G, NM_001353310.1:c.486A>G, NM_001353262.2:c.486A>G, NM_001353262.1:c.486A>G, NM_001353316.2:c.462A>G, NM_001353316.1:c.462A>G, NM_001353290.2:c.48A>G, NM_001353290.1:c.48A>G, NM_001353285.2:c.48A>G, NM_001353285.1:c.48A>G, NM_001353306.2:c.486A>G, NM_001353306.1:c.486A>G, NM_001353260.2:c.486A>G, NM_001353260.1:c.486A>G, NM_001353294.2:c.48A>G, NM_001353294.1:c.48A>G, NM_001353298.2:c.48A>G, NM_001353298.1:c.48A>G, NM_001353284.2:c.48A>G, NM_001353284.1:c.48A>G, NM_001353257.2:c.486A>G, NM_001353257.1:c.486A>G, NM_001353313.2:c.486A>G, NM_001353313.1:c.486A>G, NM_001353292.2:c.48A>G, NM_001353292.1:c.48A>G, NM_001353291.2:c.48A>G, NM_001353291.1:c.48A>G, NM_001353263.2:c.486A>G, NM_001353263.1:c.486A>G, NM_001353299.2:c.48A>G, NM_001353299.1:c.48A>G, NM_001353295.2:c.48A>G, NM_001353295.1:c.48A>G, NM_001353266.2:c.486A>G, NM_001353266.1:c.486A>G, NM_001353276.2:c.48A>G, NM_001353276.1:c.48A>G, NM_001353286.2:c.48A>G, NM_001353286.1:c.48A>G, NM_001353288.2:c.48A>G, NM_001353288.1:c.48A>G, NM_001353283.2:c.48A>G, NM_001353283.1:c.48A>G, NM_001330612.2:c.48A>G, NM_001330612.1:c.48A>G, NM_001353293.2:c.48A>G, NM_001353293.1:c.48A>G, NM_001353301.2:c.48A>G, NM_001353301.1:c.48A>G, NM_001353282.2:c.48A>G, NM_001353282.1:c.48A>G, NM_001353297.2:c.48A>G, NM_001353297.1:c.48A>G, NR_046359.1:n.1153A>G, NR_046360.1:n.1063A>G, NR_046361.1:n.1053A>G, NM_001353251.1:c.486A>G, XM_047421856.1:c.486A>G, NM_001353309.1:c.486A>G, NM_001353255.1:c.486A>G, NM_001353253.1:c.486A>G, NM_001353275.1:c.48A>G, NM_001353247.1:c.486A>G, NM_001353245.1:c.486A>G, NM_001353272.1:c.48A>G, NM_001353302.1:c.486A>G, NM_001353250.1:c.486A>G, NM_001353279.1:c.48A>G, NM_001353304.1:c.486A>G, NM_001353246.1:c.486A>G, NM_001353303.1:c.486A>G, NM_001353270.1:c.48A>G, NM_001353278.1:c.48A>G, NM_001353281.1:c.48A>G, NM_001353308.1:c.486A>G, NM_001353249.1:c.486A>G, XM_047421855.1:c.639A>G, NM_001353274.1:c.48A>G, NM_001353305.1:c.486A>G, NM_001353252.1:c.486A>G, NM_001353280.1:c.48A>G, NM_001353271.1:c.48A>G, NM_001353273.1:c.48A>G, NM_001353277.1:c.48A>G, XM_047421859.1:c.486A>G, XM_047421857.1:c.486A>G, NM_001353269.1:c.48A>G

              7.

              rs1484679530 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                8:129840277 (GRCh38)
                8:130852523 (GRCh37)
                Canonical SPDI:
                NC_000008.11:129840276:A:G
                Gene:
                CYRIB (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000008.11:g.129840277A>G, NC_000008.10:g.130852523A>G, NM_016623.5:c.*1865T>C, NM_016623.4:c.*1865T>C, XM_011517121.4:c.*1865T>C, NM_001353244.2:c.*1865T>C, NM_001353244.1:c.*1865T>C, NM_001353259.2:c.*1865T>C, NM_001353259.1:c.*1865T>C, NM_001353315.2:c.*1865T>C, NM_001353315.1:c.*1865T>C, NM_001353242.2:c.*1865T>C, NM_001353242.1:c.*1865T>C, NM_001353243.2:c.*1865T>C, NM_001353243.1:c.*1865T>C, NM_001353254.2:c.*1865T>C, NM_001353254.1:c.*1865T>C, NM_001353296.2:c.*1865T>C, NM_001353296.1:c.*1865T>C, XM_024447180.2:c.*1865T>C, NM_001353267.2:c.*1865T>C, NM_001353267.1:c.*1865T>C, NM_001353300.2:c.*1865T>C, NM_001353300.1:c.*1865T>C, NM_001353312.2:c.*1865T>C, NM_001353312.1:c.*1865T>C, NM_001353261.2:c.*1865T>C, NM_001353261.1:c.*1865T>C, NM_001353268.2:c.*1865T>C, NM_001353268.1:c.*1865T>C, NM_001353287.2:c.*1865T>C, NM_001353287.1:c.*1865T>C, NM_001353311.2:c.*1865T>C, NM_001353311.1:c.*1865T>C, NM_001353307.2:c.*1865T>C, NM_001353307.1:c.*1865T>C, NM_001353258.2:c.*1865T>C, NM_001353258.1:c.*1865T>C, NM_001353248.2:c.*1865T>C, NM_001353248.1:c.*1865T>C, NM_001353264.2:c.*1865T>C, NM_001353264.1:c.*1865T>C, NM_001353289.2:c.*1865T>C, NM_001353289.1:c.*1865T>C, NM_001353314.2:c.*1865T>C, NM_001353314.1:c.*1865T>C, NM_001256763.2:c.*1865T>C, NM_001256763.1:c.*1865T>C, NM_001353256.2:c.*1865T>C, NM_001353256.1:c.*1865T>C, NM_001353265.2:c.*1865T>C, NM_001353265.1:c.*1865T>C, NM_001353310.2:c.*1865T>C, NM_001353310.1:c.*1865T>C, NM_001353262.2:c.*1865T>C, NM_001353262.1:c.*1865T>C, NM_001353316.2:c.*1865T>C, NM_001353316.1:c.*1865T>C, NM_001353290.2:c.*1865T>C, NM_001353290.1:c.*1865T>C, NM_001353285.2:c.*1865T>C, NM_001353285.1:c.*1865T>C, NM_001353306.2:c.*1865T>C, NM_001353306.1:c.*1865T>C, NM_001353260.2:c.*1865T>C, NM_001353260.1:c.*1865T>C, NM_001353294.2:c.*1865T>C, NM_001353294.1:c.*1865T>C, NM_001353298.2:c.*1865T>C, NM_001353298.1:c.*1865T>C, NM_001353284.2:c.*1865T>C, NM_001353284.1:c.*1865T>C, NM_001353257.2:c.*1865T>C, NM_001353257.1:c.*1865T>C, NM_001353313.2:c.*1865T>C, NM_001353313.1:c.*1865T>C, NM_001353292.2:c.*1865T>C, NM_001353292.1:c.*1865T>C, NM_001353291.2:c.*1865T>C, NM_001353291.1:c.*1865T>C, NM_001353263.2:c.*1865T>C, NM_001353263.1:c.*1865T>C, NM_001353299.2:c.*1865T>C, NM_001353299.1:c.*1865T>C, NM_001353295.2:c.*1865T>C, NM_001353295.1:c.*1865T>C, NM_001353266.2:c.*1865T>C, NM_001353266.1:c.*1865T>C, NM_001353276.2:c.*1865T>C, NM_001353276.1:c.*1865T>C, NM_001353286.2:c.*1865T>C, NM_001353286.1:c.*1865T>C, NM_001353288.2:c.*1865T>C, NM_001353288.1:c.*1865T>C, NM_001353283.2:c.*1865T>C, NM_001353283.1:c.*1865T>C, NM_001330612.2:c.*1865T>C, NM_001330612.1:c.*1865T>C, NM_001353293.2:c.*1865T>C, NM_001353293.1:c.*1865T>C, NM_001353301.2:c.*1865T>C, NM_001353301.1:c.*1865T>C, NM_001353282.2:c.*1865T>C, NM_001353282.1:c.*1865T>C, NM_001353297.2:c.*1865T>C, NM_001353297.1:c.*1865T>C, NR_046359.1:n.3507T>C, NR_046360.1:n.3417T>C, NR_046361.1:n.3407T>C, NM_001353251.1:c.*1865T>C, XM_047421856.1:c.*1865T>C, NM_001353309.1:c.*1865T>C, NM_001353255.1:c.*1865T>C, NM_001353253.1:c.*1865T>C, NM_001353275.1:c.*1865T>C, NM_001353247.1:c.*1865T>C, NM_001353245.1:c.*1865T>C, NM_001353272.1:c.*1865T>C, NM_001353302.1:c.*1865T>C, NM_001353250.1:c.*1865T>C, NM_001353279.1:c.*1865T>C, NM_001353304.1:c.*1865T>C, NM_001353246.1:c.*1865T>C, NM_001353303.1:c.*1865T>C, NM_001353270.1:c.*1865T>C, NM_001353278.1:c.*1865T>C, NM_001353281.1:c.*1865T>C, NM_001353308.1:c.*1865T>C, NM_001353249.1:c.*1865T>C, XM_047421855.1:c.*1865T>C, NM_001353274.1:c.*1865T>C, NM_001353305.1:c.*1865T>C, NM_001353252.1:c.*1865T>C, NM_001353280.1:c.*1865T>C, NM_001353271.1:c.*1865T>C, NM_001353273.1:c.*1865T>C, NM_001353277.1:c.*1865T>C, XM_047421859.1:c.*1865T>C, XM_047421857.1:c.*1865T>C, NM_001353269.1:c.*1865T>C

                8.

                rs1484647110 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  8:129839773 (GRCh38)
                  8:130852019 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:129839772:G:A
                  Gene:
                  CYRIB (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000071/1 (ALFA)
                  A=0.000014/2 (GnomAD)
                  A=0.00003/8 (TOPMED)
                  HGVS:
                  NC_000008.11:g.129839773G>A, NC_000008.10:g.130852019G>A, NM_016623.5:c.*2369C>T, NM_016623.4:c.*2369C>T, XM_011517121.4:c.*2369C>T, NM_001353244.2:c.*2369C>T, NM_001353244.1:c.*2369C>T, NM_001353259.2:c.*2369C>T, NM_001353259.1:c.*2369C>T, NM_001353315.2:c.*2369C>T, NM_001353315.1:c.*2369C>T, NM_001353242.2:c.*2369C>T, NM_001353242.1:c.*2369C>T, NM_001353243.2:c.*2369C>T, NM_001353243.1:c.*2369C>T, NM_001353254.2:c.*2369C>T, NM_001353254.1:c.*2369C>T, NM_001353296.2:c.*2369C>T, NM_001353296.1:c.*2369C>T, XM_024447180.2:c.*2369C>T, NM_001353267.2:c.*2369C>T, NM_001353267.1:c.*2369C>T, NM_001353300.2:c.*2369C>T, NM_001353300.1:c.*2369C>T, NM_001353312.2:c.*2369C>T, NM_001353312.1:c.*2369C>T, NM_001353261.2:c.*2369C>T, NM_001353261.1:c.*2369C>T, NM_001353268.2:c.*2369C>T, NM_001353268.1:c.*2369C>T, NM_001353287.2:c.*2369C>T, NM_001353287.1:c.*2369C>T, NM_001353311.2:c.*2369C>T, NM_001353311.1:c.*2369C>T, NM_001353307.2:c.*2369C>T, NM_001353307.1:c.*2369C>T, NM_001353258.2:c.*2369C>T, NM_001353258.1:c.*2369C>T, NM_001353248.2:c.*2369C>T, NM_001353248.1:c.*2369C>T, NM_001353264.2:c.*2369C>T, NM_001353264.1:c.*2369C>T, NM_001353289.2:c.*2369C>T, NM_001353289.1:c.*2369C>T, NM_001353314.2:c.*2369C>T, NM_001353314.1:c.*2369C>T, NM_001256763.2:c.*2369C>T, NM_001256763.1:c.*2369C>T, NM_001353256.2:c.*2369C>T, NM_001353256.1:c.*2369C>T, NM_001353265.2:c.*2369C>T, NM_001353265.1:c.*2369C>T, NM_001353310.2:c.*2369C>T, NM_001353310.1:c.*2369C>T, NM_001353262.2:c.*2369C>T, NM_001353262.1:c.*2369C>T, NM_001353316.2:c.*2369C>T, NM_001353316.1:c.*2369C>T, NM_001353290.2:c.*2369C>T, NM_001353290.1:c.*2369C>T, NM_001353285.2:c.*2369C>T, NM_001353285.1:c.*2369C>T, NM_001353306.2:c.*2369C>T, NM_001353306.1:c.*2369C>T, NM_001353260.2:c.*2369C>T, NM_001353260.1:c.*2369C>T, NM_001353294.2:c.*2369C>T, NM_001353294.1:c.*2369C>T, NM_001353298.2:c.*2369C>T, NM_001353298.1:c.*2369C>T, NM_001353284.2:c.*2369C>T, NM_001353284.1:c.*2369C>T, NM_001353257.2:c.*2369C>T, NM_001353257.1:c.*2369C>T, NM_001353313.2:c.*2369C>T, NM_001353313.1:c.*2369C>T, NM_001353292.2:c.*2369C>T, NM_001353292.1:c.*2369C>T, NM_001353291.2:c.*2369C>T, NM_001353291.1:c.*2369C>T, NM_001353263.2:c.*2369C>T, NM_001353263.1:c.*2369C>T, NM_001353299.2:c.*2369C>T, NM_001353299.1:c.*2369C>T, NM_001353295.2:c.*2369C>T, NM_001353295.1:c.*2369C>T, NM_001353266.2:c.*2369C>T, NM_001353266.1:c.*2369C>T, NM_001353276.2:c.*2369C>T, NM_001353276.1:c.*2369C>T, NM_001353286.2:c.*2369C>T, NM_001353286.1:c.*2369C>T, NM_001353288.2:c.*2369C>T, NM_001353288.1:c.*2369C>T, NM_001353283.2:c.*2369C>T, NM_001353283.1:c.*2369C>T, NM_001330612.2:c.*2369C>T, NM_001330612.1:c.*2369C>T, NM_001353293.2:c.*2369C>T, NM_001353293.1:c.*2369C>T, NM_001353301.2:c.*2369C>T, NM_001353301.1:c.*2369C>T, NM_001353282.2:c.*2369C>T, NM_001353282.1:c.*2369C>T, NM_001353297.2:c.*2369C>T, NM_001353297.1:c.*2369C>T, NR_046359.1:n.4011C>T, NR_046360.1:n.3921C>T, NR_046361.1:n.3911C>T, NM_001353251.1:c.*2369C>T, XM_047421856.1:c.*2369C>T, NM_001353309.1:c.*2369C>T, NM_001353255.1:c.*2369C>T, NM_001353253.1:c.*2369C>T, NM_001353275.1:c.*2369C>T, NM_001353247.1:c.*2369C>T, NM_001353245.1:c.*2369C>T, NM_001353272.1:c.*2369C>T, NM_001353302.1:c.*2369C>T, NM_001353250.1:c.*2369C>T, NM_001353279.1:c.*2369C>T, NM_001353304.1:c.*2369C>T, NM_001353246.1:c.*2369C>T, NM_001353303.1:c.*2369C>T, NM_001353270.1:c.*2369C>T, NM_001353278.1:c.*2369C>T, NM_001353281.1:c.*2369C>T, NM_001353308.1:c.*2369C>T, NM_001353249.1:c.*2369C>T, XM_047421855.1:c.*2369C>T, NM_001353274.1:c.*2369C>T, NM_001353305.1:c.*2369C>T, NM_001353252.1:c.*2369C>T, NM_001353280.1:c.*2369C>T, NM_001353271.1:c.*2369C>T, NM_001353273.1:c.*2369C>T, NM_001353277.1:c.*2369C>T, XM_047421859.1:c.*2369C>T, XM_047421857.1:c.*2369C>T, NM_001353269.1:c.*2369C>T

                  9.

                  rs1484596435 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    8:129840735 (GRCh38)
                    8:130852981 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:129840734:T:G
                    Gene:
                    CYRIB (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000008.11:g.129840735T>G, NC_000008.10:g.130852981T>G, NM_016623.5:c.*1407A>C, NM_016623.4:c.*1407A>C, XM_011517121.4:c.*1407A>C, NM_001353244.2:c.*1407A>C, NM_001353244.1:c.*1407A>C, NM_001353259.2:c.*1407A>C, NM_001353259.1:c.*1407A>C, NM_001353315.2:c.*1407A>C, NM_001353315.1:c.*1407A>C, NM_001353242.2:c.*1407A>C, NM_001353242.1:c.*1407A>C, NM_001353243.2:c.*1407A>C, NM_001353243.1:c.*1407A>C, NM_001353254.2:c.*1407A>C, NM_001353254.1:c.*1407A>C, NM_001353296.2:c.*1407A>C, NM_001353296.1:c.*1407A>C, XM_024447180.2:c.*1407A>C, NM_001353267.2:c.*1407A>C, NM_001353267.1:c.*1407A>C, NM_001353300.2:c.*1407A>C, NM_001353300.1:c.*1407A>C, NM_001353312.2:c.*1407A>C, NM_001353312.1:c.*1407A>C, NM_001353261.2:c.*1407A>C, NM_001353261.1:c.*1407A>C, NM_001353268.2:c.*1407A>C, NM_001353268.1:c.*1407A>C, NM_001353287.2:c.*1407A>C, NM_001353287.1:c.*1407A>C, NM_001353311.2:c.*1407A>C, NM_001353311.1:c.*1407A>C, NM_001353307.2:c.*1407A>C, NM_001353307.1:c.*1407A>C, NM_001353258.2:c.*1407A>C, NM_001353258.1:c.*1407A>C, NM_001353248.2:c.*1407A>C, NM_001353248.1:c.*1407A>C, NM_001353264.2:c.*1407A>C, NM_001353264.1:c.*1407A>C, NM_001353289.2:c.*1407A>C, NM_001353289.1:c.*1407A>C, NM_001353314.2:c.*1407A>C, NM_001353314.1:c.*1407A>C, NM_001256763.2:c.*1407A>C, NM_001256763.1:c.*1407A>C, NM_001353256.2:c.*1407A>C, NM_001353256.1:c.*1407A>C, NM_001353265.2:c.*1407A>C, NM_001353265.1:c.*1407A>C, NM_001353310.2:c.*1407A>C, NM_001353310.1:c.*1407A>C, NM_001353262.2:c.*1407A>C, NM_001353262.1:c.*1407A>C, NM_001353316.2:c.*1407A>C, NM_001353316.1:c.*1407A>C, NM_001353290.2:c.*1407A>C, NM_001353290.1:c.*1407A>C, NM_001353285.2:c.*1407A>C, NM_001353285.1:c.*1407A>C, NM_001353306.2:c.*1407A>C, NM_001353306.1:c.*1407A>C, NM_001353260.2:c.*1407A>C, NM_001353260.1:c.*1407A>C, NM_001353294.2:c.*1407A>C, NM_001353294.1:c.*1407A>C, NM_001353298.2:c.*1407A>C, NM_001353298.1:c.*1407A>C, NM_001353284.2:c.*1407A>C, NM_001353284.1:c.*1407A>C, NM_001353257.2:c.*1407A>C, NM_001353257.1:c.*1407A>C, NM_001353313.2:c.*1407A>C, NM_001353313.1:c.*1407A>C, NM_001353292.2:c.*1407A>C, NM_001353292.1:c.*1407A>C, NM_001353291.2:c.*1407A>C, NM_001353291.1:c.*1407A>C, NM_001353263.2:c.*1407A>C, NM_001353263.1:c.*1407A>C, NM_001353299.2:c.*1407A>C, NM_001353299.1:c.*1407A>C, NM_001353295.2:c.*1407A>C, NM_001353295.1:c.*1407A>C, NM_001353266.2:c.*1407A>C, NM_001353266.1:c.*1407A>C, NM_001353276.2:c.*1407A>C, NM_001353276.1:c.*1407A>C, NM_001353286.2:c.*1407A>C, NM_001353286.1:c.*1407A>C, NM_001353288.2:c.*1407A>C, NM_001353288.1:c.*1407A>C, NM_001353283.2:c.*1407A>C, NM_001353283.1:c.*1407A>C, NM_001330612.2:c.*1407A>C, NM_001330612.1:c.*1407A>C, NM_001353293.2:c.*1407A>C, NM_001353293.1:c.*1407A>C, NM_001353301.2:c.*1407A>C, NM_001353301.1:c.*1407A>C, NM_001353282.2:c.*1407A>C, NM_001353282.1:c.*1407A>C, NM_001353297.2:c.*1407A>C, NM_001353297.1:c.*1407A>C, NR_046359.1:n.3049A>C, NR_046360.1:n.2959A>C, NR_046361.1:n.2949A>C, NM_001353251.1:c.*1407A>C, XM_047421856.1:c.*1407A>C, NM_001353309.1:c.*1407A>C, NM_001353255.1:c.*1407A>C, NM_001353253.1:c.*1407A>C, NM_001353275.1:c.*1407A>C, NM_001353247.1:c.*1407A>C, NM_001353245.1:c.*1407A>C, NM_001353272.1:c.*1407A>C, NM_001353302.1:c.*1407A>C, NM_001353250.1:c.*1407A>C, NM_001353279.1:c.*1407A>C, NM_001353304.1:c.*1407A>C, NM_001353246.1:c.*1407A>C, NM_001353303.1:c.*1407A>C, NM_001353270.1:c.*1407A>C, NM_001353278.1:c.*1407A>C, NM_001353281.1:c.*1407A>C, NM_001353308.1:c.*1407A>C, NM_001353249.1:c.*1407A>C, XM_047421855.1:c.*1407A>C, NM_001353274.1:c.*1407A>C, NM_001353305.1:c.*1407A>C, NM_001353252.1:c.*1407A>C, NM_001353280.1:c.*1407A>C, NM_001353271.1:c.*1407A>C, NM_001353273.1:c.*1407A>C, NM_001353277.1:c.*1407A>C, XM_047421859.1:c.*1407A>C, XM_047421857.1:c.*1407A>C, NM_001353269.1:c.*1407A>C

                    10.

                    rs1482974377 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      8:129904560 (GRCh38)
                      8:130916806 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:129904559:T:C
                      Gene:
                      CYRIB (Varview)
                      Functional Consequence:
                      5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000008.11:g.129904560T>C, NC_000008.10:g.130916806T>C, NM_001353244.2:c.-377A>G, NM_001353244.1:c.-377A>G, NM_001353259.2:c.-294A>G, NM_001353259.1:c.-294A>G, NM_001353315.2:c.-294A>G, NM_001353315.1:c.-294A>G, NM_001353242.2:c.-217A>G, NM_001353242.1:c.-217A>G, NM_001353254.2:c.-194A>G, NM_001353254.1:c.-194A>G, NM_001353296.2:c.-663A>G, NM_001353296.1:c.-663A>G, NM_001353300.2:c.-640A>G, NM_001353300.1:c.-640A>G, NM_001353312.2:c.-111A>G, NM_001353312.1:c.-111A>G, NM_001353261.2:c.-111A>G, NM_001353261.1:c.-111A>G, NM_001353268.2:c.-194A>G, NM_001353268.1:c.-194A>G, NM_001353287.2:c.-557A>G, NM_001353287.1:c.-557A>G, NM_001353311.2:c.-111A>G, NM_001353311.1:c.-111A>G, NM_001353307.2:c.-111A>G, NM_001353307.1:c.-111A>G, NM_001353258.2:c.-111A>G, NM_001353258.1:c.-111A>G, NM_001353264.2:c.-130A>G, NM_001353264.1:c.-130A>G, NM_001353289.2:c.-466A>G, NM_001353289.1:c.-466A>G, NM_001353314.2:c.-111A>G, NM_001353314.1:c.-111A>G, NM_001256763.2:c.-111A>G, NM_001256763.1:c.-111A>G, NM_001353310.2:c.-111A>G, NM_001353310.1:c.-111A>G, NM_001353262.2:c.-111A>G, NM_001353262.1:c.-111A>G, NM_001353290.2:c.-474A>G, NM_001353290.1:c.-474A>G, NM_001353285.2:c.-466A>G, NM_001353285.1:c.-466A>G, NM_001353294.2:c.-443A>G, NM_001353294.1:c.-443A>G, NM_001353298.2:c.-466A>G, NM_001353298.1:c.-466A>G, NM_001353292.2:c.-466A>G, NM_001353292.1:c.-466A>G, NM_001353299.2:c.-443A>G, NM_001353299.1:c.-443A>G, NM_001353295.2:c.-443A>G, NM_001353295.1:c.-443A>G, NM_001353286.2:c.-360A>G, NM_001353286.1:c.-360A>G, NM_001353301.2:c.-360A>G, NM_001353301.1:c.-360A>G, NR_046359.1:n.291A>G, NR_046360.1:n.361A>G, NM_001353251.1:c.-294A>G, XM_047421856.1:c.-111A>G, NM_001353309.1:c.-217A>G, NM_001353255.1:c.-217A>G, NM_001353275.1:c.-640A>G, NM_001353247.1:c.-111A>G, NM_001353245.1:c.-111A>G, NM_001353272.1:c.-557A>G, NM_001353302.1:c.-111A>G, NM_001353250.1:c.-111A>G, NM_001353279.1:c.-466A>G, NM_001353304.1:c.-111A>G, NM_001353246.1:c.-111A>G, NM_001353270.1:c.-466A>G, NM_001353278.1:c.-474A>G, NM_001353281.1:c.-466A>G, NM_001353274.1:c.-466A>G

                      11.

                      rs1478321437 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        8:129841720 (GRCh38)
                        8:130853966 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:129841719:T:G
                        Gene:
                        CYRIB (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000011/3 (TOPMED)
                        G=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000008.11:g.129841720T>G, NC_000008.10:g.130853966T>G, NM_016623.5:c.*422A>C, NM_016623.4:c.*422A>C, XM_011517121.4:c.*422A>C, XM_011517121.3:c.*422A>C, XM_011517121.2:c.*422A>C, XM_011517121.1:c.*422A>C, NM_001353244.2:c.*422A>C, NM_001353244.1:c.*422A>C, NM_001353259.2:c.*422A>C, NM_001353259.1:c.*422A>C, NM_001353315.2:c.*422A>C, NM_001353315.1:c.*422A>C, NM_001353242.2:c.*422A>C, NM_001353242.1:c.*422A>C, NM_001353243.2:c.*422A>C, NM_001353243.1:c.*422A>C, NM_001353254.2:c.*422A>C, NM_001353254.1:c.*422A>C, NM_001353296.2:c.*422A>C, NM_001353296.1:c.*422A>C, XM_024447180.2:c.*422A>C, XM_024447180.1:c.*422A>C, NM_001353267.2:c.*422A>C, NM_001353267.1:c.*422A>C, NM_001353300.2:c.*422A>C, NM_001353300.1:c.*422A>C, NM_001353312.2:c.*422A>C, NM_001353312.1:c.*422A>C, NM_001353261.2:c.*422A>C, NM_001353261.1:c.*422A>C, NM_001353268.2:c.*422A>C, NM_001353268.1:c.*422A>C, NM_001353287.2:c.*422A>C, NM_001353287.1:c.*422A>C, NM_001353311.2:c.*422A>C, NM_001353311.1:c.*422A>C, NM_001353307.2:c.*422A>C, NM_001353307.1:c.*422A>C, NM_001353258.2:c.*422A>C, NM_001353258.1:c.*422A>C, NM_001353248.2:c.*422A>C, NM_001353248.1:c.*422A>C, NM_001353264.2:c.*422A>C, NM_001353264.1:c.*422A>C, NM_001353289.2:c.*422A>C, NM_001353289.1:c.*422A>C, NM_001353314.2:c.*422A>C, NM_001353314.1:c.*422A>C, NM_001256763.2:c.*422A>C, NM_001256763.1:c.*422A>C, NM_001353256.2:c.*422A>C, NM_001353256.1:c.*422A>C, NM_001353265.2:c.*422A>C, NM_001353265.1:c.*422A>C, NM_001353310.2:c.*422A>C, NM_001353310.1:c.*422A>C, NM_001353262.2:c.*422A>C, NM_001353262.1:c.*422A>C, NM_001353316.2:c.*422A>C, NM_001353316.1:c.*422A>C, NM_001353290.2:c.*422A>C, NM_001353290.1:c.*422A>C, NM_001353285.2:c.*422A>C, NM_001353285.1:c.*422A>C, NM_001353306.2:c.*422A>C, NM_001353306.1:c.*422A>C, NM_001353260.2:c.*422A>C, NM_001353260.1:c.*422A>C, NM_001353294.2:c.*422A>C, NM_001353294.1:c.*422A>C, NM_001353298.2:c.*422A>C, NM_001353298.1:c.*422A>C, NM_001353284.2:c.*422A>C, NM_001353284.1:c.*422A>C, NM_001353257.2:c.*422A>C, NM_001353257.1:c.*422A>C, NM_001353313.2:c.*422A>C, NM_001353313.1:c.*422A>C, NM_001353292.2:c.*422A>C, NM_001353292.1:c.*422A>C, NM_001353291.2:c.*422A>C, NM_001353291.1:c.*422A>C, NM_001353263.2:c.*422A>C, NM_001353263.1:c.*422A>C, NM_001353299.2:c.*422A>C, NM_001353299.1:c.*422A>C, NM_001353295.2:c.*422A>C, NM_001353295.1:c.*422A>C, NM_001353266.2:c.*422A>C, NM_001353266.1:c.*422A>C, NM_001353276.2:c.*422A>C, NM_001353276.1:c.*422A>C, NM_001353286.2:c.*422A>C, NM_001353286.1:c.*422A>C, NM_001353288.2:c.*422A>C, NM_001353288.1:c.*422A>C, NM_001353283.2:c.*422A>C, NM_001353283.1:c.*422A>C, NM_001330612.2:c.*422A>C, NM_001330612.1:c.*422A>C, NM_001353293.2:c.*422A>C, NM_001353293.1:c.*422A>C, NM_001353301.2:c.*422A>C, NM_001353301.1:c.*422A>C, NM_001353282.2:c.*422A>C, NM_001353282.1:c.*422A>C, NM_001353297.2:c.*422A>C, NM_001353297.1:c.*422A>C, NR_046359.1:n.2064A>C, NR_046360.1:n.1974A>C, NR_046361.1:n.1964A>C, NM_001353251.1:c.*422A>C, XM_047421856.1:c.*422A>C, NM_001353309.1:c.*422A>C, NM_001353255.1:c.*422A>C, NM_001353253.1:c.*422A>C, NM_001353275.1:c.*422A>C, NM_001353247.1:c.*422A>C, NM_001353245.1:c.*422A>C, NM_001353272.1:c.*422A>C, NM_001353302.1:c.*422A>C, NM_001353250.1:c.*422A>C, NM_001353279.1:c.*422A>C, NM_001353304.1:c.*422A>C, NM_001353246.1:c.*422A>C, NM_001353303.1:c.*422A>C, NM_001353270.1:c.*422A>C, NM_001353278.1:c.*422A>C, NM_001353281.1:c.*422A>C, NM_001353308.1:c.*422A>C, NM_001353249.1:c.*422A>C, XM_047421855.1:c.*422A>C, NM_001353274.1:c.*422A>C, NM_001353305.1:c.*422A>C, NM_001353252.1:c.*422A>C, NM_001353280.1:c.*422A>C, NM_001353271.1:c.*422A>C, NM_001353273.1:c.*422A>C, NM_001353277.1:c.*422A>C, XM_047421859.1:c.*422A>C, XM_047421857.1:c.*422A>C, NM_001353269.1:c.*422A>C

                        12.

                        rs1476574571 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          8:129879455 (GRCh38)
                          8:130891701 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:129879454:T:C
                          Gene:
                          CYRIB (Varview)
                          Functional Consequence:
                          missense_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0.000111/1 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000008.11:g.129879455T>C, NC_000008.10:g.130891701T>C, NM_016623.5:c.7A>G, NM_016623.4:c.7A>G, XM_011517121.4:c.349A>G, XM_011517121.3:c.7A>G, XM_011517121.2:c.7A>G, XM_011517121.1:c.7A>G, NM_001353244.2:c.7A>G, NM_001353244.1:c.7A>G, NM_001353259.2:c.7A>G, NM_001353259.1:c.7A>G, NM_001353242.2:c.7A>G, NM_001353242.1:c.7A>G, NM_001353243.2:c.7A>G, NM_001353243.1:c.7A>G, NM_001353254.2:c.7A>G, NM_001353254.1:c.7A>G, NM_001353296.2:c.-440A>G, NM_001353296.1:c.-440A>G, XM_024447180.2:c.7A>G, XM_024447180.1:c.7A>G, NM_001353267.2:c.7A>G, NM_001353267.1:c.7A>G, NM_001353300.2:c.-440A>G, NM_001353300.1:c.-440A>G, NM_001353261.2:c.7A>G, NM_001353261.1:c.7A>G, NM_001353268.2:c.7A>G, NM_001353268.1:c.7A>G, NM_001353287.2:c.-440A>G, NM_001353287.1:c.-440A>G, NM_001353258.2:c.7A>G, NM_001353258.1:c.7A>G, NM_001353248.2:c.7A>G, NM_001353248.1:c.7A>G, NM_001353264.2:c.7A>G, NM_001353264.1:c.7A>G, NM_001256763.2:c.7A>G, NM_001256763.1:c.7A>G, NM_001353256.2:c.7A>G, NM_001353256.1:c.7A>G, NM_001353265.2:c.7A>G, NM_001353265.1:c.7A>G, NM_001353262.2:c.7A>G, NM_001353262.1:c.7A>G, NM_001353260.2:c.7A>G, NM_001353260.1:c.7A>G, NM_001353294.2:c.-326A>G, NM_001353294.1:c.-326A>G, NM_001353257.2:c.7A>G, NM_001353257.1:c.7A>G, NM_001353263.2:c.7A>G, NM_001353263.1:c.7A>G, NM_001353295.2:c.-326A>G, NM_001353295.1:c.-326A>G, NM_001353266.2:c.7A>G, NM_001353266.1:c.7A>G, NM_001353288.2:c.-326A>G, NM_001353288.1:c.-326A>G, NR_046359.1:n.674A>G, NR_046360.1:n.584A>G, NR_046361.1:n.574A>G, NM_001353251.1:c.7A>G, XM_047421856.1:c.7A>G, NM_001353255.1:c.7A>G, NM_001353253.1:c.7A>G, NM_001353275.1:c.-440A>G, NM_001353247.1:c.7A>G, NM_001353245.1:c.7A>G, NM_001353272.1:c.-440A>G, NM_001353250.1:c.7A>G, NM_001353246.1:c.7A>G, NM_001353249.1:c.7A>G, NM_001353252.1:c.7A>G, NM_001353273.1:c.-326A>G, XM_047421859.1:c.7A>G, XM_047421857.1:c.7A>G, NP_057707.3:p.Asn3Asp, XP_011515423.2:p.Asn117Asp, NP_001340173.1:p.Asn3Asp, NP_001340188.1:p.Asn3Asp, NP_001340171.1:p.Asn3Asp, NP_001340172.1:p.Asn3Asp, NP_001340183.1:p.Asn3Asp, XP_024302948.1:p.Asn3Asp, NP_001340196.1:p.Asn3Asp, NP_001340190.1:p.Asn3Asp, NP_001340197.1:p.Asn3Asp, NP_001340187.1:p.Asn3Asp, NP_001340177.1:p.Asn3Asp, NP_001340193.1:p.Asn3Asp, NP_001243692.1:p.Asn3Asp, NP_001340185.1:p.Asn3Asp, NP_001340194.1:p.Asn3Asp, NP_001340191.1:p.Asn3Asp, NP_001340189.1:p.Asn3Asp, NP_001340186.1:p.Asn3Asp, NP_001340192.1:p.Asn3Asp, NP_001340195.1:p.Asn3Asp, NP_001340180.1:p.Asn3Asp, XP_047277812.1:p.Asn3Asp, NP_001340184.1:p.Asn3Asp, NP_001340182.1:p.Asn3Asp, NP_001340176.1:p.Asn3Asp, NP_001340174.1:p.Asn3Asp, NP_001340179.1:p.Asn3Asp, NP_001340175.1:p.Asn3Asp, NP_001340178.1:p.Asn3Asp, NP_001340181.1:p.Asn3Asp, XP_047277815.1:p.Asn3Asp, XP_047277813.1:p.Asn3Asp

                          13.

                          rs1475745784 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            8:129841314 (GRCh38)
                            8:130853560 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:129841313:G:A
                            Gene:
                            CYRIB (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000014/2 (GnomAD)
                            A=0.000015/4 (TOPMED)
                            HGVS:
                            NC_000008.11:g.129841314G>A, NC_000008.10:g.130853560G>A, NM_016623.5:c.*828C>T, NM_016623.4:c.*828C>T, XM_011517121.4:c.*828C>T, NM_001353244.2:c.*828C>T, NM_001353244.1:c.*828C>T, NM_001353259.2:c.*828C>T, NM_001353259.1:c.*828C>T, NM_001353315.2:c.*828C>T, NM_001353315.1:c.*828C>T, NM_001353242.2:c.*828C>T, NM_001353242.1:c.*828C>T, NM_001353243.2:c.*828C>T, NM_001353243.1:c.*828C>T, NM_001353254.2:c.*828C>T, NM_001353254.1:c.*828C>T, NM_001353296.2:c.*828C>T, NM_001353296.1:c.*828C>T, XM_024447180.2:c.*828C>T, NM_001353267.2:c.*828C>T, NM_001353267.1:c.*828C>T, NM_001353300.2:c.*828C>T, NM_001353300.1:c.*828C>T, NM_001353312.2:c.*828C>T, NM_001353312.1:c.*828C>T, NM_001353261.2:c.*828C>T, NM_001353261.1:c.*828C>T, NM_001353268.2:c.*828C>T, NM_001353268.1:c.*828C>T, NM_001353287.2:c.*828C>T, NM_001353287.1:c.*828C>T, NM_001353311.2:c.*828C>T, NM_001353311.1:c.*828C>T, NM_001353307.2:c.*828C>T, NM_001353307.1:c.*828C>T, NM_001353258.2:c.*828C>T, NM_001353258.1:c.*828C>T, NM_001353248.2:c.*828C>T, NM_001353248.1:c.*828C>T, NM_001353264.2:c.*828C>T, NM_001353264.1:c.*828C>T, NM_001353289.2:c.*828C>T, NM_001353289.1:c.*828C>T, NM_001353314.2:c.*828C>T, NM_001353314.1:c.*828C>T, NM_001256763.2:c.*828C>T, NM_001256763.1:c.*828C>T, NM_001353256.2:c.*828C>T, NM_001353256.1:c.*828C>T, NM_001353265.2:c.*828C>T, NM_001353265.1:c.*828C>T, NM_001353310.2:c.*828C>T, NM_001353310.1:c.*828C>T, NM_001353262.2:c.*828C>T, NM_001353262.1:c.*828C>T, NM_001353316.2:c.*828C>T, NM_001353316.1:c.*828C>T, NM_001353290.2:c.*828C>T, NM_001353290.1:c.*828C>T, NM_001353285.2:c.*828C>T, NM_001353285.1:c.*828C>T, NM_001353306.2:c.*828C>T, NM_001353306.1:c.*828C>T, NM_001353260.2:c.*828C>T, NM_001353260.1:c.*828C>T, NM_001353294.2:c.*828C>T, NM_001353294.1:c.*828C>T, NM_001353298.2:c.*828C>T, NM_001353298.1:c.*828C>T, NM_001353284.2:c.*828C>T, NM_001353284.1:c.*828C>T, NM_001353257.2:c.*828C>T, NM_001353257.1:c.*828C>T, NM_001353313.2:c.*828C>T, NM_001353313.1:c.*828C>T, NM_001353292.2:c.*828C>T, NM_001353292.1:c.*828C>T, NM_001353291.2:c.*828C>T, NM_001353291.1:c.*828C>T, NM_001353263.2:c.*828C>T, NM_001353263.1:c.*828C>T, NM_001353299.2:c.*828C>T, NM_001353299.1:c.*828C>T, NM_001353295.2:c.*828C>T, NM_001353295.1:c.*828C>T, NM_001353266.2:c.*828C>T, NM_001353266.1:c.*828C>T, NM_001353276.2:c.*828C>T, NM_001353276.1:c.*828C>T, NM_001353286.2:c.*828C>T, NM_001353286.1:c.*828C>T, NM_001353288.2:c.*828C>T, NM_001353288.1:c.*828C>T, NM_001353283.2:c.*828C>T, NM_001353283.1:c.*828C>T, NM_001330612.2:c.*828C>T, NM_001330612.1:c.*828C>T, NM_001353293.2:c.*828C>T, NM_001353293.1:c.*828C>T, NM_001353301.2:c.*828C>T, NM_001353301.1:c.*828C>T, NM_001353282.2:c.*828C>T, NM_001353282.1:c.*828C>T, NM_001353297.2:c.*828C>T, NM_001353297.1:c.*828C>T, NR_046359.1:n.2470C>T, NR_046360.1:n.2380C>T, NR_046361.1:n.2370C>T, NM_001353251.1:c.*828C>T, XM_047421856.1:c.*828C>T, NM_001353309.1:c.*828C>T, NM_001353255.1:c.*828C>T, NM_001353253.1:c.*828C>T, NM_001353275.1:c.*828C>T, NM_001353247.1:c.*828C>T, NM_001353245.1:c.*828C>T, NM_001353272.1:c.*828C>T, NM_001353302.1:c.*828C>T, NM_001353250.1:c.*828C>T, NM_001353279.1:c.*828C>T, NM_001353304.1:c.*828C>T, NM_001353246.1:c.*828C>T, NM_001353303.1:c.*828C>T, NM_001353270.1:c.*828C>T, NM_001353278.1:c.*828C>T, NM_001353281.1:c.*828C>T, NM_001353308.1:c.*828C>T, NM_001353249.1:c.*828C>T, XM_047421855.1:c.*828C>T, NM_001353274.1:c.*828C>T, NM_001353305.1:c.*828C>T, NM_001353252.1:c.*828C>T, NM_001353280.1:c.*828C>T, NM_001353271.1:c.*828C>T, NM_001353273.1:c.*828C>T, NM_001353277.1:c.*828C>T, XM_047421859.1:c.*828C>T, XM_047421857.1:c.*828C>T, NM_001353269.1:c.*828C>T

                            14.

                            rs1475658842 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              8:129903321 (GRCh38)
                              8:130915567 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:129903320:G:A
                              Gene:
                              CYRIB (Varview)
                              Functional Consequence:
                              synonymous_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000008.11:g.129903321G>A, NC_000008.10:g.130915567G>A, NM_016623.5:c.-20C>T, NM_016623.4:c.-20C>T, XM_011517121.4:c.217C>T, XM_011517121.3:c.-126C>T, XM_011517121.2:c.-126C>T, XM_011517121.1:c.-126C>T, NM_001353244.2:c.-286C>T, NM_001353244.1:c.-286C>T, NM_001353259.2:c.-203C>T, NM_001353259.1:c.-203C>T, NM_001353315.2:c.-203C>T, NM_001353315.1:c.-203C>T, NM_001353242.2:c.-126C>T, NM_001353242.1:c.-126C>T, NM_001353243.2:c.-203C>T, NM_001353243.1:c.-203C>T, NM_001353254.2:c.-103C>T, NM_001353254.1:c.-103C>T, NM_001353296.2:c.-572C>T, NM_001353296.1:c.-572C>T, XM_024447180.2:c.-126C>T, XM_024447180.1:c.-126C>T, NM_001353267.2:c.-203C>T, NM_001353267.1:c.-203C>T, NM_001353300.2:c.-549C>T, NM_001353300.1:c.-549C>T, NM_001353312.2:c.-20C>T, NM_001353312.1:c.-20C>T, NM_001353261.2:c.-20C>T, NM_001353261.1:c.-20C>T, NM_001353268.2:c.-103C>T, NM_001353268.1:c.-103C>T, NM_001353287.2:c.-466C>T, NM_001353287.1:c.-466C>T, NM_001353311.2:c.-20C>T, NM_001353311.1:c.-20C>T, NM_001353307.2:c.-20C>T, NM_001353307.1:c.-20C>T, NM_001353258.2:c.-20C>T, NM_001353258.1:c.-20C>T, NM_001353248.2:c.-103C>T, NM_001353248.1:c.-103C>T, NM_001353264.2:c.-39C>T, NM_001353264.1:c.-39C>T, NM_001353289.2:c.-375C>T, NM_001353289.1:c.-375C>T, NM_001353314.2:c.-20C>T, NM_001353314.1:c.-20C>T, NM_001256763.2:c.-20C>T, NM_001256763.1:c.-20C>T, NM_001353256.2:c.-20C>T, NM_001353256.1:c.-20C>T, NM_001353265.2:c.-103C>T, NM_001353265.1:c.-103C>T, NM_001353310.2:c.-20C>T, NM_001353310.1:c.-20C>T, NM_001353262.2:c.-20C>T, NM_001353262.1:c.-20C>T, NM_001353316.2:c.-67C>T, NM_001353316.1:c.-67C>T, NM_001353290.2:c.-383C>T, NM_001353290.1:c.-383C>T, NM_001353285.2:c.-375C>T, NM_001353285.1:c.-375C>T, NM_001353306.2:c.-20C>T, NM_001353306.1:c.-20C>T, NM_001353260.2:c.-20C>T, NM_001353260.1:c.-20C>T, NM_001353294.2:c.-352C>T, NM_001353294.1:c.-352C>T, NM_001353298.2:c.-375C>T, NM_001353298.1:c.-375C>T, NM_001353284.2:c.-375C>T, NM_001353284.1:c.-375C>T, NM_001353313.2:c.-20C>T, NM_001353313.1:c.-20C>T, NM_001353292.2:c.-375C>T, NM_001353292.1:c.-375C>T, NM_001353291.2:c.-375C>T, NM_001353291.1:c.-375C>T, NM_001353263.2:c.-20C>T, NM_001353263.1:c.-20C>T, NM_001353299.2:c.-352C>T, NM_001353299.1:c.-352C>T, NM_001353295.2:c.-352C>T, NM_001353295.1:c.-352C>T, NM_001353276.2:c.-375C>T, NM_001353276.1:c.-375C>T, NM_001353286.2:c.-269C>T, NM_001353286.1:c.-269C>T, NM_001353288.2:c.-352C>T, NM_001353288.1:c.-352C>T, NM_001330612.2:c.-375C>T, NM_001330612.1:c.-375C>T, NM_001353293.2:c.-375C>T, NM_001353293.1:c.-375C>T, NM_001353301.2:c.-269C>T, NM_001353301.1:c.-269C>T, NM_001353282.2:c.-269C>T, NM_001353282.1:c.-269C>T, NM_001353297.2:c.-269C>T, NM_001353297.1:c.-269C>T, NR_046359.1:n.382C>T, NR_046360.1:n.452C>T, NR_046361.1:n.365C>T, NM_001353251.1:c.-203C>T, XM_047421856.1:c.-20C>T, NM_001353309.1:c.-126C>T, NM_001353255.1:c.-126C>T, NM_001353253.1:c.-203C>T, NM_001353275.1:c.-549C>T, NM_001353247.1:c.-20C>T, NM_001353245.1:c.-20C>T, NM_001353272.1:c.-466C>T, NM_001353302.1:c.-20C>T, NM_001353250.1:c.-20C>T, NM_001353279.1:c.-375C>T, NM_001353304.1:c.-20C>T, NM_001353246.1:c.-20C>T, NM_001353303.1:c.-20C>T, NM_001353270.1:c.-375C>T, NM_001353278.1:c.-383C>T, NM_001353281.1:c.-375C>T, NM_001353308.1:c.-20C>T, NM_001353249.1:c.-20C>T, XM_047421855.1:c.217C>T, NM_001353274.1:c.-375C>T, NM_001353305.1:c.-20C>T, NM_001353252.1:c.-20C>T, NM_001353280.1:c.-383C>T, NM_001353271.1:c.-375C>T, NM_001353273.1:c.-352C>T, NM_001353269.1:c.-269C>T

                              15.

                              rs1475217818 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                8:129839965 (GRCh38)
                                8:130852211 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:129839964:A:G
                                Gene:
                                CYRIB (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000008.11:g.129839965A>G, NC_000008.10:g.130852211A>G, NM_016623.5:c.*2177T>C, NM_016623.4:c.*2177T>C, XM_011517121.4:c.*2177T>C, NM_001353244.2:c.*2177T>C, NM_001353244.1:c.*2177T>C, NM_001353259.2:c.*2177T>C, NM_001353259.1:c.*2177T>C, NM_001353315.2:c.*2177T>C, NM_001353315.1:c.*2177T>C, NM_001353242.2:c.*2177T>C, NM_001353242.1:c.*2177T>C, NM_001353243.2:c.*2177T>C, NM_001353243.1:c.*2177T>C, NM_001353254.2:c.*2177T>C, NM_001353254.1:c.*2177T>C, NM_001353296.2:c.*2177T>C, NM_001353296.1:c.*2177T>C, XM_024447180.2:c.*2177T>C, NM_001353267.2:c.*2177T>C, NM_001353267.1:c.*2177T>C, NM_001353300.2:c.*2177T>C, NM_001353300.1:c.*2177T>C, NM_001353312.2:c.*2177T>C, NM_001353312.1:c.*2177T>C, NM_001353261.2:c.*2177T>C, NM_001353261.1:c.*2177T>C, NM_001353268.2:c.*2177T>C, NM_001353268.1:c.*2177T>C, NM_001353287.2:c.*2177T>C, NM_001353287.1:c.*2177T>C, NM_001353311.2:c.*2177T>C, NM_001353311.1:c.*2177T>C, NM_001353307.2:c.*2177T>C, NM_001353307.1:c.*2177T>C, NM_001353258.2:c.*2177T>C, NM_001353258.1:c.*2177T>C, NM_001353248.2:c.*2177T>C, NM_001353248.1:c.*2177T>C, NM_001353264.2:c.*2177T>C, NM_001353264.1:c.*2177T>C, NM_001353289.2:c.*2177T>C, NM_001353289.1:c.*2177T>C, NM_001353314.2:c.*2177T>C, NM_001353314.1:c.*2177T>C, NM_001256763.2:c.*2177T>C, NM_001256763.1:c.*2177T>C, NM_001353256.2:c.*2177T>C, NM_001353256.1:c.*2177T>C, NM_001353265.2:c.*2177T>C, NM_001353265.1:c.*2177T>C, NM_001353310.2:c.*2177T>C, NM_001353310.1:c.*2177T>C, NM_001353262.2:c.*2177T>C, NM_001353262.1:c.*2177T>C, NM_001353316.2:c.*2177T>C, NM_001353316.1:c.*2177T>C, NM_001353290.2:c.*2177T>C, NM_001353290.1:c.*2177T>C, NM_001353285.2:c.*2177T>C, NM_001353285.1:c.*2177T>C, NM_001353306.2:c.*2177T>C, NM_001353306.1:c.*2177T>C, NM_001353260.2:c.*2177T>C, NM_001353260.1:c.*2177T>C, NM_001353294.2:c.*2177T>C, NM_001353294.1:c.*2177T>C, NM_001353298.2:c.*2177T>C, NM_001353298.1:c.*2177T>C, NM_001353284.2:c.*2177T>C, NM_001353284.1:c.*2177T>C, NM_001353257.2:c.*2177T>C, NM_001353257.1:c.*2177T>C, NM_001353313.2:c.*2177T>C, NM_001353313.1:c.*2177T>C, NM_001353292.2:c.*2177T>C, NM_001353292.1:c.*2177T>C, NM_001353291.2:c.*2177T>C, NM_001353291.1:c.*2177T>C, NM_001353263.2:c.*2177T>C, NM_001353263.1:c.*2177T>C, NM_001353299.2:c.*2177T>C, NM_001353299.1:c.*2177T>C, NM_001353295.2:c.*2177T>C, NM_001353295.1:c.*2177T>C, NM_001353266.2:c.*2177T>C, NM_001353266.1:c.*2177T>C, NM_001353276.2:c.*2177T>C, NM_001353276.1:c.*2177T>C, NM_001353286.2:c.*2177T>C, NM_001353286.1:c.*2177T>C, NM_001353288.2:c.*2177T>C, NM_001353288.1:c.*2177T>C, NM_001353283.2:c.*2177T>C, NM_001353283.1:c.*2177T>C, NM_001330612.2:c.*2177T>C, NM_001330612.1:c.*2177T>C, NM_001353293.2:c.*2177T>C, NM_001353293.1:c.*2177T>C, NM_001353301.2:c.*2177T>C, NM_001353301.1:c.*2177T>C, NM_001353282.2:c.*2177T>C, NM_001353282.1:c.*2177T>C, NM_001353297.2:c.*2177T>C, NM_001353297.1:c.*2177T>C, NR_046359.1:n.3819T>C, NR_046360.1:n.3729T>C, NR_046361.1:n.3719T>C, NM_001353251.1:c.*2177T>C, XM_047421856.1:c.*2177T>C, NM_001353309.1:c.*2177T>C, NM_001353255.1:c.*2177T>C, NM_001353253.1:c.*2177T>C, NM_001353275.1:c.*2177T>C, NM_001353247.1:c.*2177T>C, NM_001353245.1:c.*2177T>C, NM_001353272.1:c.*2177T>C, NM_001353302.1:c.*2177T>C, NM_001353250.1:c.*2177T>C, NM_001353279.1:c.*2177T>C, NM_001353304.1:c.*2177T>C, NM_001353246.1:c.*2177T>C, NM_001353303.1:c.*2177T>C, NM_001353270.1:c.*2177T>C, NM_001353278.1:c.*2177T>C, NM_001353281.1:c.*2177T>C, NM_001353308.1:c.*2177T>C, NM_001353249.1:c.*2177T>C, XM_047421855.1:c.*2177T>C, NM_001353274.1:c.*2177T>C, NM_001353305.1:c.*2177T>C, NM_001353252.1:c.*2177T>C, NM_001353280.1:c.*2177T>C, NM_001353271.1:c.*2177T>C, NM_001353273.1:c.*2177T>C, NM_001353277.1:c.*2177T>C, XM_047421859.1:c.*2177T>C, XM_047421857.1:c.*2177T>C, NM_001353269.1:c.*2177T>C

                                16.

                                rs1475162233 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  8:129840341 (GRCh38)
                                  8:130852587 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:129840340:A:C
                                  Gene:
                                  CYRIB (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000035/1 (TOMMO)
                                  HGVS:
                                  NC_000008.11:g.129840341A>C, NC_000008.10:g.130852587A>C, NM_016623.5:c.*1801T>G, NM_016623.4:c.*1801T>G, XM_011517121.4:c.*1801T>G, NM_001353244.2:c.*1801T>G, NM_001353244.1:c.*1801T>G, NM_001353259.2:c.*1801T>G, NM_001353259.1:c.*1801T>G, NM_001353315.2:c.*1801T>G, NM_001353315.1:c.*1801T>G, NM_001353242.2:c.*1801T>G, NM_001353242.1:c.*1801T>G, NM_001353243.2:c.*1801T>G, NM_001353243.1:c.*1801T>G, NM_001353254.2:c.*1801T>G, NM_001353254.1:c.*1801T>G, NM_001353296.2:c.*1801T>G, NM_001353296.1:c.*1801T>G, XM_024447180.2:c.*1801T>G, NM_001353267.2:c.*1801T>G, NM_001353267.1:c.*1801T>G, NM_001353300.2:c.*1801T>G, NM_001353300.1:c.*1801T>G, NM_001353312.2:c.*1801T>G, NM_001353312.1:c.*1801T>G, NM_001353261.2:c.*1801T>G, NM_001353261.1:c.*1801T>G, NM_001353268.2:c.*1801T>G, NM_001353268.1:c.*1801T>G, NM_001353287.2:c.*1801T>G, NM_001353287.1:c.*1801T>G, NM_001353311.2:c.*1801T>G, NM_001353311.1:c.*1801T>G, NM_001353307.2:c.*1801T>G, NM_001353307.1:c.*1801T>G, NM_001353258.2:c.*1801T>G, NM_001353258.1:c.*1801T>G, NM_001353248.2:c.*1801T>G, NM_001353248.1:c.*1801T>G, NM_001353264.2:c.*1801T>G, NM_001353264.1:c.*1801T>G, NM_001353289.2:c.*1801T>G, NM_001353289.1:c.*1801T>G, NM_001353314.2:c.*1801T>G, NM_001353314.1:c.*1801T>G, NM_001256763.2:c.*1801T>G, NM_001256763.1:c.*1801T>G, NM_001353256.2:c.*1801T>G, NM_001353256.1:c.*1801T>G, NM_001353265.2:c.*1801T>G, NM_001353265.1:c.*1801T>G, NM_001353310.2:c.*1801T>G, NM_001353310.1:c.*1801T>G, NM_001353262.2:c.*1801T>G, NM_001353262.1:c.*1801T>G, NM_001353316.2:c.*1801T>G, NM_001353316.1:c.*1801T>G, NM_001353290.2:c.*1801T>G, NM_001353290.1:c.*1801T>G, NM_001353285.2:c.*1801T>G, NM_001353285.1:c.*1801T>G, NM_001353306.2:c.*1801T>G, NM_001353306.1:c.*1801T>G, NM_001353260.2:c.*1801T>G, NM_001353260.1:c.*1801T>G, NM_001353294.2:c.*1801T>G, NM_001353294.1:c.*1801T>G, NM_001353298.2:c.*1801T>G, NM_001353298.1:c.*1801T>G, NM_001353284.2:c.*1801T>G, NM_001353284.1:c.*1801T>G, NM_001353257.2:c.*1801T>G, NM_001353257.1:c.*1801T>G, NM_001353313.2:c.*1801T>G, NM_001353313.1:c.*1801T>G, NM_001353292.2:c.*1801T>G, NM_001353292.1:c.*1801T>G, NM_001353291.2:c.*1801T>G, NM_001353291.1:c.*1801T>G, NM_001353263.2:c.*1801T>G, NM_001353263.1:c.*1801T>G, NM_001353299.2:c.*1801T>G, NM_001353299.1:c.*1801T>G, NM_001353295.2:c.*1801T>G, NM_001353295.1:c.*1801T>G, NM_001353266.2:c.*1801T>G, NM_001353266.1:c.*1801T>G, NM_001353276.2:c.*1801T>G, NM_001353276.1:c.*1801T>G, NM_001353286.2:c.*1801T>G, NM_001353286.1:c.*1801T>G, NM_001353288.2:c.*1801T>G, NM_001353288.1:c.*1801T>G, NM_001353283.2:c.*1801T>G, NM_001353283.1:c.*1801T>G, NM_001330612.2:c.*1801T>G, NM_001330612.1:c.*1801T>G, NM_001353293.2:c.*1801T>G, NM_001353293.1:c.*1801T>G, NM_001353301.2:c.*1801T>G, NM_001353301.1:c.*1801T>G, NM_001353282.2:c.*1801T>G, NM_001353282.1:c.*1801T>G, NM_001353297.2:c.*1801T>G, NM_001353297.1:c.*1801T>G, NR_046359.1:n.3443T>G, NR_046360.1:n.3353T>G, NR_046361.1:n.3343T>G, NM_001353251.1:c.*1801T>G, XM_047421856.1:c.*1801T>G, NM_001353309.1:c.*1801T>G, NM_001353255.1:c.*1801T>G, NM_001353253.1:c.*1801T>G, NM_001353275.1:c.*1801T>G, NM_001353247.1:c.*1801T>G, NM_001353245.1:c.*1801T>G, NM_001353272.1:c.*1801T>G, NM_001353302.1:c.*1801T>G, NM_001353250.1:c.*1801T>G, NM_001353279.1:c.*1801T>G, NM_001353304.1:c.*1801T>G, NM_001353246.1:c.*1801T>G, NM_001353303.1:c.*1801T>G, NM_001353270.1:c.*1801T>G, NM_001353278.1:c.*1801T>G, NM_001353281.1:c.*1801T>G, NM_001353308.1:c.*1801T>G, NM_001353249.1:c.*1801T>G, XM_047421855.1:c.*1801T>G, NM_001353274.1:c.*1801T>G, NM_001353305.1:c.*1801T>G, NM_001353252.1:c.*1801T>G, NM_001353280.1:c.*1801T>G, NM_001353271.1:c.*1801T>G, NM_001353273.1:c.*1801T>G, NM_001353277.1:c.*1801T>G, XM_047421859.1:c.*1801T>G, XM_047421857.1:c.*1801T>G, NM_001353269.1:c.*1801T>G

                                  17.

                                  rs1475161178 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    8:129841064 (GRCh38)
                                    8:130853310 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:129841063:T:C
                                    Gene:
                                    CYRIB (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000011/3 (TOPMED)
                                    C=0.000021/3 (GnomAD)
                                    HGVS:
                                    NC_000008.11:g.129841064T>C, NC_000008.10:g.130853310T>C, NM_016623.5:c.*1078A>G, NM_016623.4:c.*1078A>G, XM_011517121.4:c.*1078A>G, NM_001353244.2:c.*1078A>G, NM_001353244.1:c.*1078A>G, NM_001353259.2:c.*1078A>G, NM_001353259.1:c.*1078A>G, NM_001353315.2:c.*1078A>G, NM_001353315.1:c.*1078A>G, NM_001353242.2:c.*1078A>G, NM_001353242.1:c.*1078A>G, NM_001353243.2:c.*1078A>G, NM_001353243.1:c.*1078A>G, NM_001353254.2:c.*1078A>G, NM_001353254.1:c.*1078A>G, NM_001353296.2:c.*1078A>G, NM_001353296.1:c.*1078A>G, XM_024447180.2:c.*1078A>G, NM_001353267.2:c.*1078A>G, NM_001353267.1:c.*1078A>G, NM_001353300.2:c.*1078A>G, NM_001353300.1:c.*1078A>G, NM_001353312.2:c.*1078A>G, NM_001353312.1:c.*1078A>G, NM_001353261.2:c.*1078A>G, NM_001353261.1:c.*1078A>G, NM_001353268.2:c.*1078A>G, NM_001353268.1:c.*1078A>G, NM_001353287.2:c.*1078A>G, NM_001353287.1:c.*1078A>G, NM_001353311.2:c.*1078A>G, NM_001353311.1:c.*1078A>G, NM_001353307.2:c.*1078A>G, NM_001353307.1:c.*1078A>G, NM_001353258.2:c.*1078A>G, NM_001353258.1:c.*1078A>G, NM_001353248.2:c.*1078A>G, NM_001353248.1:c.*1078A>G, NM_001353264.2:c.*1078A>G, NM_001353264.1:c.*1078A>G, NM_001353289.2:c.*1078A>G, NM_001353289.1:c.*1078A>G, NM_001353314.2:c.*1078A>G, NM_001353314.1:c.*1078A>G, NM_001256763.2:c.*1078A>G, NM_001256763.1:c.*1078A>G, NM_001353256.2:c.*1078A>G, NM_001353256.1:c.*1078A>G, NM_001353265.2:c.*1078A>G, NM_001353265.1:c.*1078A>G, NM_001353310.2:c.*1078A>G, NM_001353310.1:c.*1078A>G, NM_001353262.2:c.*1078A>G, NM_001353262.1:c.*1078A>G, NM_001353316.2:c.*1078A>G, NM_001353316.1:c.*1078A>G, NM_001353290.2:c.*1078A>G, NM_001353290.1:c.*1078A>G, NM_001353285.2:c.*1078A>G, NM_001353285.1:c.*1078A>G, NM_001353306.2:c.*1078A>G, NM_001353306.1:c.*1078A>G, NM_001353260.2:c.*1078A>G, NM_001353260.1:c.*1078A>G, NM_001353294.2:c.*1078A>G, NM_001353294.1:c.*1078A>G, NM_001353298.2:c.*1078A>G, NM_001353298.1:c.*1078A>G, NM_001353284.2:c.*1078A>G, NM_001353284.1:c.*1078A>G, NM_001353257.2:c.*1078A>G, NM_001353257.1:c.*1078A>G, NM_001353313.2:c.*1078A>G, NM_001353313.1:c.*1078A>G, NM_001353292.2:c.*1078A>G, NM_001353292.1:c.*1078A>G, NM_001353291.2:c.*1078A>G, NM_001353291.1:c.*1078A>G, NM_001353263.2:c.*1078A>G, NM_001353263.1:c.*1078A>G, NM_001353299.2:c.*1078A>G, NM_001353299.1:c.*1078A>G, NM_001353295.2:c.*1078A>G, NM_001353295.1:c.*1078A>G, NM_001353266.2:c.*1078A>G, NM_001353266.1:c.*1078A>G, NM_001353276.2:c.*1078A>G, NM_001353276.1:c.*1078A>G, NM_001353286.2:c.*1078A>G, NM_001353286.1:c.*1078A>G, NM_001353288.2:c.*1078A>G, NM_001353288.1:c.*1078A>G, NM_001353283.2:c.*1078A>G, NM_001353283.1:c.*1078A>G, NM_001330612.2:c.*1078A>G, NM_001330612.1:c.*1078A>G, NM_001353293.2:c.*1078A>G, NM_001353293.1:c.*1078A>G, NM_001353301.2:c.*1078A>G, NM_001353301.1:c.*1078A>G, NM_001353282.2:c.*1078A>G, NM_001353282.1:c.*1078A>G, NM_001353297.2:c.*1078A>G, NM_001353297.1:c.*1078A>G, NR_046359.1:n.2720A>G, NR_046360.1:n.2630A>G, NR_046361.1:n.2620A>G, NM_001353251.1:c.*1078A>G, XM_047421856.1:c.*1078A>G, NM_001353309.1:c.*1078A>G, NM_001353255.1:c.*1078A>G, NM_001353253.1:c.*1078A>G, NM_001353275.1:c.*1078A>G, NM_001353247.1:c.*1078A>G, NM_001353245.1:c.*1078A>G, NM_001353272.1:c.*1078A>G, NM_001353302.1:c.*1078A>G, NM_001353250.1:c.*1078A>G, NM_001353279.1:c.*1078A>G, NM_001353304.1:c.*1078A>G, NM_001353246.1:c.*1078A>G, NM_001353303.1:c.*1078A>G, NM_001353270.1:c.*1078A>G, NM_001353278.1:c.*1078A>G, NM_001353281.1:c.*1078A>G, NM_001353308.1:c.*1078A>G, NM_001353249.1:c.*1078A>G, XM_047421855.1:c.*1078A>G, NM_001353274.1:c.*1078A>G, NM_001353305.1:c.*1078A>G, NM_001353252.1:c.*1078A>G, NM_001353280.1:c.*1078A>G, NM_001353271.1:c.*1078A>G, NM_001353273.1:c.*1078A>G, NM_001353277.1:c.*1078A>G, XM_047421859.1:c.*1078A>G, XM_047421857.1:c.*1078A>G, NM_001353269.1:c.*1078A>G

                                    18.

                                    rs1475105142 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      8:129841955 (GRCh38)
                                      8:130854201 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:129841954:G:A
                                      Gene:
                                      CYRIB (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000008.11:g.129841955G>A, NC_000008.10:g.130854201G>A, NM_016623.5:c.*187C>T, NM_016623.4:c.*187C>T, XM_011517121.4:c.*187C>T, XM_011517121.3:c.*187C>T, XM_011517121.2:c.*187C>T, XM_011517121.1:c.*187C>T, NM_001353244.2:c.*187C>T, NM_001353244.1:c.*187C>T, NM_001353259.2:c.*187C>T, NM_001353259.1:c.*187C>T, NM_001353315.2:c.*187C>T, NM_001353315.1:c.*187C>T, NM_001353242.2:c.*187C>T, NM_001353242.1:c.*187C>T, NM_001353243.2:c.*187C>T, NM_001353243.1:c.*187C>T, NM_001353254.2:c.*187C>T, NM_001353254.1:c.*187C>T, NM_001353296.2:c.*187C>T, NM_001353296.1:c.*187C>T, XM_024447180.2:c.*187C>T, XM_024447180.1:c.*187C>T, NM_001353267.2:c.*187C>T, NM_001353267.1:c.*187C>T, NM_001353300.2:c.*187C>T, NM_001353300.1:c.*187C>T, NM_001353312.2:c.*187C>T, NM_001353312.1:c.*187C>T, NM_001353261.2:c.*187C>T, NM_001353261.1:c.*187C>T, NM_001353268.2:c.*187C>T, NM_001353268.1:c.*187C>T, NM_001353287.2:c.*187C>T, NM_001353287.1:c.*187C>T, NM_001353311.2:c.*187C>T, NM_001353311.1:c.*187C>T, NM_001353307.2:c.*187C>T, NM_001353307.1:c.*187C>T, NM_001353258.2:c.*187C>T, NM_001353258.1:c.*187C>T, NM_001353248.2:c.*187C>T, NM_001353248.1:c.*187C>T, NM_001353264.2:c.*187C>T, NM_001353264.1:c.*187C>T, NM_001353289.2:c.*187C>T, NM_001353289.1:c.*187C>T, NM_001353314.2:c.*187C>T, NM_001353314.1:c.*187C>T, NM_001256763.2:c.*187C>T, NM_001256763.1:c.*187C>T, NM_001353256.2:c.*187C>T, NM_001353256.1:c.*187C>T, NM_001353265.2:c.*187C>T, NM_001353265.1:c.*187C>T, NM_001353310.2:c.*187C>T, NM_001353310.1:c.*187C>T, NM_001353262.2:c.*187C>T, NM_001353262.1:c.*187C>T, NM_001353316.2:c.*187C>T, NM_001353316.1:c.*187C>T, NM_001353290.2:c.*187C>T, NM_001353290.1:c.*187C>T, NM_001353285.2:c.*187C>T, NM_001353285.1:c.*187C>T, NM_001353306.2:c.*187C>T, NM_001353306.1:c.*187C>T, NM_001353260.2:c.*187C>T, NM_001353260.1:c.*187C>T, NM_001353294.2:c.*187C>T, NM_001353294.1:c.*187C>T, NM_001353298.2:c.*187C>T, NM_001353298.1:c.*187C>T, NM_001353284.2:c.*187C>T, NM_001353284.1:c.*187C>T, NM_001353257.2:c.*187C>T, NM_001353257.1:c.*187C>T, NM_001353313.2:c.*187C>T, NM_001353313.1:c.*187C>T, NM_001353292.2:c.*187C>T, NM_001353292.1:c.*187C>T, NM_001353291.2:c.*187C>T, NM_001353291.1:c.*187C>T, NM_001353263.2:c.*187C>T, NM_001353263.1:c.*187C>T, NM_001353299.2:c.*187C>T, NM_001353299.1:c.*187C>T, NM_001353295.2:c.*187C>T, NM_001353295.1:c.*187C>T, NM_001353266.2:c.*187C>T, NM_001353266.1:c.*187C>T, NM_001353276.2:c.*187C>T, NM_001353276.1:c.*187C>T, NM_001353286.2:c.*187C>T, NM_001353286.1:c.*187C>T, NM_001353288.2:c.*187C>T, NM_001353288.1:c.*187C>T, NM_001353283.2:c.*187C>T, NM_001353283.1:c.*187C>T, NM_001330612.2:c.*187C>T, NM_001330612.1:c.*187C>T, NM_001353293.2:c.*187C>T, NM_001353293.1:c.*187C>T, NM_001353301.2:c.*187C>T, NM_001353301.1:c.*187C>T, NM_001353282.2:c.*187C>T, NM_001353282.1:c.*187C>T, NM_001353297.2:c.*187C>T, NM_001353297.1:c.*187C>T, NR_046359.1:n.1829C>T, NR_046360.1:n.1739C>T, NR_046361.1:n.1729C>T, NM_001353251.1:c.*187C>T, XM_047421856.1:c.*187C>T, NM_001353309.1:c.*187C>T, NM_001353255.1:c.*187C>T, NM_001353253.1:c.*187C>T, NM_001353275.1:c.*187C>T, NM_001353247.1:c.*187C>T, NM_001353245.1:c.*187C>T, NM_001353272.1:c.*187C>T, NM_001353302.1:c.*187C>T, NM_001353250.1:c.*187C>T, NM_001353279.1:c.*187C>T, NM_001353304.1:c.*187C>T, NM_001353246.1:c.*187C>T, NM_001353303.1:c.*187C>T, NM_001353270.1:c.*187C>T, NM_001353278.1:c.*187C>T, NM_001353281.1:c.*187C>T, NM_001353308.1:c.*187C>T, NM_001353249.1:c.*187C>T, XM_047421855.1:c.*187C>T, NM_001353274.1:c.*187C>T, NM_001353305.1:c.*187C>T, NM_001353252.1:c.*187C>T, NM_001353280.1:c.*187C>T, NM_001353271.1:c.*187C>T, NM_001353273.1:c.*187C>T, NM_001353277.1:c.*187C>T, XM_047421859.1:c.*187C>T, XM_047421857.1:c.*187C>T, NM_001353269.1:c.*187C>T

                                      19.

                                      rs1474182479 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        8:129840815 (GRCh38)
                                        8:130853061 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:129840814:C:T
                                        Gene:
                                        CYRIB (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000008.11:g.129840815C>T, NC_000008.10:g.130853061C>T, NM_016623.5:c.*1327G>A, NM_016623.4:c.*1327G>A, XM_011517121.4:c.*1327G>A, NM_001353244.2:c.*1327G>A, NM_001353244.1:c.*1327G>A, NM_001353259.2:c.*1327G>A, NM_001353259.1:c.*1327G>A, NM_001353315.2:c.*1327G>A, NM_001353315.1:c.*1327G>A, NM_001353242.2:c.*1327G>A, NM_001353242.1:c.*1327G>A, NM_001353243.2:c.*1327G>A, NM_001353243.1:c.*1327G>A, NM_001353254.2:c.*1327G>A, NM_001353254.1:c.*1327G>A, NM_001353296.2:c.*1327G>A, NM_001353296.1:c.*1327G>A, XM_024447180.2:c.*1327G>A, NM_001353267.2:c.*1327G>A, NM_001353267.1:c.*1327G>A, NM_001353300.2:c.*1327G>A, NM_001353300.1:c.*1327G>A, NM_001353312.2:c.*1327G>A, NM_001353312.1:c.*1327G>A, NM_001353261.2:c.*1327G>A, NM_001353261.1:c.*1327G>A, NM_001353268.2:c.*1327G>A, NM_001353268.1:c.*1327G>A, NM_001353287.2:c.*1327G>A, NM_001353287.1:c.*1327G>A, NM_001353311.2:c.*1327G>A, NM_001353311.1:c.*1327G>A, NM_001353307.2:c.*1327G>A, NM_001353307.1:c.*1327G>A, NM_001353258.2:c.*1327G>A, NM_001353258.1:c.*1327G>A, NM_001353248.2:c.*1327G>A, NM_001353248.1:c.*1327G>A, NM_001353264.2:c.*1327G>A, NM_001353264.1:c.*1327G>A, NM_001353289.2:c.*1327G>A, NM_001353289.1:c.*1327G>A, NM_001353314.2:c.*1327G>A, NM_001353314.1:c.*1327G>A, NM_001256763.2:c.*1327G>A, NM_001256763.1:c.*1327G>A, NM_001353256.2:c.*1327G>A, NM_001353256.1:c.*1327G>A, NM_001353265.2:c.*1327G>A, NM_001353265.1:c.*1327G>A, NM_001353310.2:c.*1327G>A, NM_001353310.1:c.*1327G>A, NM_001353262.2:c.*1327G>A, NM_001353262.1:c.*1327G>A, NM_001353316.2:c.*1327G>A, NM_001353316.1:c.*1327G>A, NM_001353290.2:c.*1327G>A, NM_001353290.1:c.*1327G>A, NM_001353285.2:c.*1327G>A, NM_001353285.1:c.*1327G>A, NM_001353306.2:c.*1327G>A, NM_001353306.1:c.*1327G>A, NM_001353260.2:c.*1327G>A, NM_001353260.1:c.*1327G>A, NM_001353294.2:c.*1327G>A, NM_001353294.1:c.*1327G>A, NM_001353298.2:c.*1327G>A, NM_001353298.1:c.*1327G>A, NM_001353284.2:c.*1327G>A, NM_001353284.1:c.*1327G>A, NM_001353257.2:c.*1327G>A, NM_001353257.1:c.*1327G>A, NM_001353313.2:c.*1327G>A, NM_001353313.1:c.*1327G>A, NM_001353292.2:c.*1327G>A, NM_001353292.1:c.*1327G>A, NM_001353291.2:c.*1327G>A, NM_001353291.1:c.*1327G>A, NM_001353263.2:c.*1327G>A, NM_001353263.1:c.*1327G>A, NM_001353299.2:c.*1327G>A, NM_001353299.1:c.*1327G>A, NM_001353295.2:c.*1327G>A, NM_001353295.1:c.*1327G>A, NM_001353266.2:c.*1327G>A, NM_001353266.1:c.*1327G>A, NM_001353276.2:c.*1327G>A, NM_001353276.1:c.*1327G>A, NM_001353286.2:c.*1327G>A, NM_001353286.1:c.*1327G>A, NM_001353288.2:c.*1327G>A, NM_001353288.1:c.*1327G>A, NM_001353283.2:c.*1327G>A, NM_001353283.1:c.*1327G>A, NM_001330612.2:c.*1327G>A, NM_001330612.1:c.*1327G>A, NM_001353293.2:c.*1327G>A, NM_001353293.1:c.*1327G>A, NM_001353301.2:c.*1327G>A, NM_001353301.1:c.*1327G>A, NM_001353282.2:c.*1327G>A, NM_001353282.1:c.*1327G>A, NM_001353297.2:c.*1327G>A, NM_001353297.1:c.*1327G>A, NR_046359.1:n.2969G>A, NR_046360.1:n.2879G>A, NR_046361.1:n.2869G>A, NM_001353251.1:c.*1327G>A, XM_047421856.1:c.*1327G>A, NM_001353309.1:c.*1327G>A, NM_001353255.1:c.*1327G>A, NM_001353253.1:c.*1327G>A, NM_001353275.1:c.*1327G>A, NM_001353247.1:c.*1327G>A, NM_001353245.1:c.*1327G>A, NM_001353272.1:c.*1327G>A, NM_001353302.1:c.*1327G>A, NM_001353250.1:c.*1327G>A, NM_001353279.1:c.*1327G>A, NM_001353304.1:c.*1327G>A, NM_001353246.1:c.*1327G>A, NM_001353303.1:c.*1327G>A, NM_001353270.1:c.*1327G>A, NM_001353278.1:c.*1327G>A, NM_001353281.1:c.*1327G>A, NM_001353308.1:c.*1327G>A, NM_001353249.1:c.*1327G>A, XM_047421855.1:c.*1327G>A, NM_001353274.1:c.*1327G>A, NM_001353305.1:c.*1327G>A, NM_001353252.1:c.*1327G>A, NM_001353280.1:c.*1327G>A, NM_001353271.1:c.*1327G>A, NM_001353273.1:c.*1327G>A, NM_001353277.1:c.*1327G>A, XM_047421859.1:c.*1327G>A, XM_047421857.1:c.*1327G>A, NM_001353269.1:c.*1327G>A

                                        20.

                                        rs1473204430 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          8:129841273 (GRCh38)
                                          8:130853519 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:129841272:T:C
                                          Gene:
                                          CYRIB (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000008.11:g.129841273T>C, NC_000008.10:g.130853519T>C, NM_016623.5:c.*869A>G, NM_016623.4:c.*869A>G, XM_011517121.4:c.*869A>G, NM_001353244.2:c.*869A>G, NM_001353244.1:c.*869A>G, NM_001353259.2:c.*869A>G, NM_001353259.1:c.*869A>G, NM_001353315.2:c.*869A>G, NM_001353315.1:c.*869A>G, NM_001353242.2:c.*869A>G, NM_001353242.1:c.*869A>G, NM_001353243.2:c.*869A>G, NM_001353243.1:c.*869A>G, NM_001353254.2:c.*869A>G, NM_001353254.1:c.*869A>G, NM_001353296.2:c.*869A>G, NM_001353296.1:c.*869A>G, XM_024447180.2:c.*869A>G, NM_001353267.2:c.*869A>G, NM_001353267.1:c.*869A>G, NM_001353300.2:c.*869A>G, NM_001353300.1:c.*869A>G, NM_001353312.2:c.*869A>G, NM_001353312.1:c.*869A>G, NM_001353261.2:c.*869A>G, NM_001353261.1:c.*869A>G, NM_001353268.2:c.*869A>G, NM_001353268.1:c.*869A>G, NM_001353287.2:c.*869A>G, NM_001353287.1:c.*869A>G, NM_001353311.2:c.*869A>G, NM_001353311.1:c.*869A>G, NM_001353307.2:c.*869A>G, NM_001353307.1:c.*869A>G, NM_001353258.2:c.*869A>G, NM_001353258.1:c.*869A>G, NM_001353248.2:c.*869A>G, NM_001353248.1:c.*869A>G, NM_001353264.2:c.*869A>G, NM_001353264.1:c.*869A>G, NM_001353289.2:c.*869A>G, NM_001353289.1:c.*869A>G, NM_001353314.2:c.*869A>G, NM_001353314.1:c.*869A>G, NM_001256763.2:c.*869A>G, NM_001256763.1:c.*869A>G, NM_001353256.2:c.*869A>G, NM_001353256.1:c.*869A>G, NM_001353265.2:c.*869A>G, NM_001353265.1:c.*869A>G, NM_001353310.2:c.*869A>G, NM_001353310.1:c.*869A>G, NM_001353262.2:c.*869A>G, NM_001353262.1:c.*869A>G, NM_001353316.2:c.*869A>G, NM_001353316.1:c.*869A>G, NM_001353290.2:c.*869A>G, NM_001353290.1:c.*869A>G, NM_001353285.2:c.*869A>G, NM_001353285.1:c.*869A>G, NM_001353306.2:c.*869A>G, NM_001353306.1:c.*869A>G, NM_001353260.2:c.*869A>G, NM_001353260.1:c.*869A>G, NM_001353294.2:c.*869A>G, NM_001353294.1:c.*869A>G, NM_001353298.2:c.*869A>G, NM_001353298.1:c.*869A>G, NM_001353284.2:c.*869A>G, NM_001353284.1:c.*869A>G, NM_001353257.2:c.*869A>G, NM_001353257.1:c.*869A>G, NM_001353313.2:c.*869A>G, NM_001353313.1:c.*869A>G, NM_001353292.2:c.*869A>G, NM_001353292.1:c.*869A>G, NM_001353291.2:c.*869A>G, NM_001353291.1:c.*869A>G, NM_001353263.2:c.*869A>G, NM_001353263.1:c.*869A>G, NM_001353299.2:c.*869A>G, NM_001353299.1:c.*869A>G, NM_001353295.2:c.*869A>G, NM_001353295.1:c.*869A>G, NM_001353266.2:c.*869A>G, NM_001353266.1:c.*869A>G, NM_001353276.2:c.*869A>G, NM_001353276.1:c.*869A>G, NM_001353286.2:c.*869A>G, NM_001353286.1:c.*869A>G, NM_001353288.2:c.*869A>G, NM_001353288.1:c.*869A>G, NM_001353283.2:c.*869A>G, NM_001353283.1:c.*869A>G, NM_001330612.2:c.*869A>G, NM_001330612.1:c.*869A>G, NM_001353293.2:c.*869A>G, NM_001353293.1:c.*869A>G, NM_001353301.2:c.*869A>G, NM_001353301.1:c.*869A>G, NM_001353282.2:c.*869A>G, NM_001353282.1:c.*869A>G, NM_001353297.2:c.*869A>G, NM_001353297.1:c.*869A>G, NR_046359.1:n.2511A>G, NR_046360.1:n.2421A>G, NR_046361.1:n.2411A>G, NM_001353251.1:c.*869A>G, XM_047421856.1:c.*869A>G, NM_001353309.1:c.*869A>G, NM_001353255.1:c.*869A>G, NM_001353253.1:c.*869A>G, NM_001353275.1:c.*869A>G, NM_001353247.1:c.*869A>G, NM_001353245.1:c.*869A>G, NM_001353272.1:c.*869A>G, NM_001353302.1:c.*869A>G, NM_001353250.1:c.*869A>G, NM_001353279.1:c.*869A>G, NM_001353304.1:c.*869A>G, NM_001353246.1:c.*869A>G, NM_001353303.1:c.*869A>G, NM_001353270.1:c.*869A>G, NM_001353278.1:c.*869A>G, NM_001353281.1:c.*869A>G, NM_001353308.1:c.*869A>G, NM_001353249.1:c.*869A>G, XM_047421855.1:c.*869A>G, NM_001353274.1:c.*869A>G, NM_001353305.1:c.*869A>G, NM_001353252.1:c.*869A>G, NM_001353280.1:c.*869A>G, NM_001353271.1:c.*869A>G, NM_001353273.1:c.*869A>G, NM_001353277.1:c.*869A>G, XM_047421859.1:c.*869A>G, XM_047421857.1:c.*869A>G, NM_001353269.1:c.*869A>G

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