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Items: 1 to 20 of 84

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.

    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

      3.

      rs1465404214 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        8:129846833 (GRCh38)
        8:130859079 (GRCh37)
        Canonical SPDI:
        NC_000008.11:129846832:A:G
        Gene:
        CYRIB (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000007/1 (GnomAD)
        G=0.000008/2 (TOPMED)
        HGVS:
        NC_000008.11:g.129846833A>G, NC_000008.10:g.130859079A>G, NM_016623.5:c.882T>C, NM_016623.4:c.882T>C, XM_011517121.4:c.1224T>C, XM_011517121.3:c.882T>C, XM_011517121.2:c.882T>C, XM_011517121.1:c.882T>C, NM_001353244.2:c.882T>C, NM_001353244.1:c.882T>C, NM_001353259.2:c.882T>C, NM_001353259.1:c.882T>C, NM_001353315.2:c.882T>C, NM_001353315.1:c.882T>C, NM_001353242.2:c.882T>C, NM_001353242.1:c.882T>C, NM_001353243.2:c.882T>C, NM_001353243.1:c.882T>C, NM_001353254.2:c.882T>C, NM_001353254.1:c.882T>C, NM_001353296.2:c.444T>C, NM_001353296.1:c.444T>C, XM_024447180.2:c.882T>C, XM_024447180.1:c.882T>C, NM_001353267.2:c.882T>C, NM_001353267.1:c.882T>C, NM_001353300.2:c.444T>C, NM_001353300.1:c.444T>C, NM_001353312.2:c.882T>C, NM_001353312.1:c.882T>C, NM_001353261.2:c.882T>C, NM_001353261.1:c.882T>C, NM_001353268.2:c.882T>C, NM_001353268.1:c.882T>C, NM_001353287.2:c.444T>C, NM_001353287.1:c.444T>C, NM_001353311.2:c.882T>C, NM_001353311.1:c.882T>C, NM_001353307.2:c.882T>C, NM_001353307.1:c.882T>C, NM_001353258.2:c.882T>C, NM_001353258.1:c.882T>C, NM_001353248.2:c.882T>C, NM_001353248.1:c.882T>C, NM_001353264.2:c.882T>C, NM_001353264.1:c.882T>C, NM_001353289.2:c.444T>C, NM_001353289.1:c.444T>C, NM_001353314.2:c.882T>C, NM_001353314.1:c.882T>C, NM_001256763.2:c.882T>C, NM_001256763.1:c.882T>C, NM_001353256.2:c.882T>C, NM_001353256.1:c.882T>C, NM_001353265.2:c.882T>C, NM_001353265.1:c.882T>C, NM_001353310.2:c.882T>C, NM_001353310.1:c.882T>C, NM_001353262.2:c.882T>C, NM_001353262.1:c.882T>C, NM_001353316.2:c.858T>C, NM_001353316.1:c.858T>C, NM_001353290.2:c.444T>C, NM_001353290.1:c.444T>C, NM_001353285.2:c.444T>C, NM_001353285.1:c.444T>C, NM_001353306.2:c.882T>C, NM_001353306.1:c.882T>C, NM_001353260.2:c.882T>C, NM_001353260.1:c.882T>C, NM_001353294.2:c.444T>C, NM_001353294.1:c.444T>C, NM_001353298.2:c.444T>C, NM_001353298.1:c.444T>C, NM_001353284.2:c.444T>C, NM_001353284.1:c.444T>C, NM_001353257.2:c.882T>C, NM_001353257.1:c.882T>C, NM_001353313.2:c.882T>C, NM_001353313.1:c.882T>C, NM_001353292.2:c.444T>C, NM_001353292.1:c.444T>C, NM_001353291.2:c.444T>C, NM_001353291.1:c.444T>C, NM_001353263.2:c.882T>C, NM_001353263.1:c.882T>C, NM_001353299.2:c.444T>C, NM_001353299.1:c.444T>C, NM_001353295.2:c.444T>C, NM_001353295.1:c.444T>C, NM_001353266.2:c.882T>C, NM_001353266.1:c.882T>C, NM_001353276.2:c.444T>C, NM_001353276.1:c.444T>C, NM_001353286.2:c.444T>C, NM_001353286.1:c.444T>C, NM_001353288.2:c.444T>C, NM_001353288.1:c.444T>C, NM_001353283.2:c.444T>C, NM_001353283.1:c.444T>C, NM_001330612.2:c.444T>C, NM_001330612.1:c.444T>C, NM_001353293.2:c.444T>C, NM_001353293.1:c.444T>C, NM_001353301.2:c.444T>C, NM_001353301.1:c.444T>C, NM_001353282.2:c.444T>C, NM_001353282.1:c.444T>C, NM_001353297.2:c.444T>C, NM_001353297.1:c.444T>C, NR_046359.1:n.1549T>C, NR_046360.1:n.1459T>C, NR_046361.1:n.1449T>C, NM_001353251.1:c.882T>C, XM_047421856.1:c.882T>C, NM_001353309.1:c.882T>C, NM_001353255.1:c.882T>C, NM_001353253.1:c.882T>C, NM_001353275.1:c.444T>C, NM_001353247.1:c.882T>C, NM_001353245.1:c.882T>C, NM_001353272.1:c.444T>C, NM_001353302.1:c.882T>C, NM_001353250.1:c.882T>C, NM_001353279.1:c.444T>C, NM_001353304.1:c.882T>C, NM_001353246.1:c.882T>C, NM_001353303.1:c.882T>C, NM_001353270.1:c.444T>C, NM_001353278.1:c.444T>C, NM_001353281.1:c.444T>C, NM_001353308.1:c.882T>C, NM_001353249.1:c.882T>C, XM_047421855.1:c.1035T>C, NM_001353274.1:c.444T>C, NM_001353305.1:c.882T>C, NM_001353252.1:c.882T>C, NM_001353280.1:c.444T>C, NM_001353271.1:c.444T>C, NM_001353273.1:c.444T>C, NM_001353277.1:c.444T>C, XM_047421859.1:c.882T>C, XM_047421857.1:c.882T>C, NM_001353269.1:c.444T>C

        4.

        rs1459471656 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          8:129849271 (GRCh38)
          8:130861517 (GRCh37)
          Canonical SPDI:
          NC_000008.11:129849270:C:A,NC_000008.11:129849270:C:T
          Gene:
          CYRIB (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000008.11:g.129849271C>A, NC_000008.11:g.129849271C>T, NC_000008.10:g.130861517C>A, NC_000008.10:g.130861517C>T, NM_016623.5:c.812G>T, NM_016623.5:c.812G>A, NM_016623.4:c.812G>T, NM_016623.4:c.812G>A, XM_011517121.4:c.1154G>T, XM_011517121.4:c.1154G>A, XM_011517121.3:c.812G>T, XM_011517121.3:c.812G>A, XM_011517121.2:c.812G>T, XM_011517121.2:c.812G>A, XM_011517121.1:c.812G>T, XM_011517121.1:c.812G>A, NM_001353244.2:c.812G>T, NM_001353244.2:c.812G>A, NM_001353244.1:c.812G>T, NM_001353244.1:c.812G>A, NM_001353259.2:c.812G>T, NM_001353259.2:c.812G>A, NM_001353259.1:c.812G>T, NM_001353259.1:c.812G>A, NM_001353315.2:c.812G>T, NM_001353315.2:c.812G>A, NM_001353315.1:c.812G>T, NM_001353315.1:c.812G>A, NM_001353242.2:c.812G>T, NM_001353242.2:c.812G>A, NM_001353242.1:c.812G>T, NM_001353242.1:c.812G>A, NM_001353243.2:c.812G>T, NM_001353243.2:c.812G>A, NM_001353243.1:c.812G>T, NM_001353243.1:c.812G>A, NM_001353254.2:c.812G>T, NM_001353254.2:c.812G>A, NM_001353254.1:c.812G>T, NM_001353254.1:c.812G>A, NM_001353296.2:c.374G>T, NM_001353296.2:c.374G>A, NM_001353296.1:c.374G>T, NM_001353296.1:c.374G>A, XM_024447180.2:c.812G>T, XM_024447180.2:c.812G>A, XM_024447180.1:c.812G>T, XM_024447180.1:c.812G>A, NM_001353267.2:c.812G>T, NM_001353267.2:c.812G>A, NM_001353267.1:c.812G>T, NM_001353267.1:c.812G>A, NM_001353300.2:c.374G>T, NM_001353300.2:c.374G>A, NM_001353300.1:c.374G>T, NM_001353300.1:c.374G>A, NM_001353312.2:c.812G>T, NM_001353312.2:c.812G>A, NM_001353312.1:c.812G>T, NM_001353312.1:c.812G>A, NM_001353261.2:c.812G>T, NM_001353261.2:c.812G>A, NM_001353261.1:c.812G>T, NM_001353261.1:c.812G>A, NM_001353268.2:c.812G>T, NM_001353268.2:c.812G>A, NM_001353268.1:c.812G>T, NM_001353268.1:c.812G>A, NM_001353287.2:c.374G>T, NM_001353287.2:c.374G>A, NM_001353287.1:c.374G>T, NM_001353287.1:c.374G>A, NM_001353311.2:c.812G>T, NM_001353311.2:c.812G>A, NM_001353311.1:c.812G>T, NM_001353311.1:c.812G>A, NM_001353307.2:c.812G>T, NM_001353307.2:c.812G>A, NM_001353307.1:c.812G>T, NM_001353307.1:c.812G>A, NM_001353258.2:c.812G>T, NM_001353258.2:c.812G>A, NM_001353258.1:c.812G>T, NM_001353258.1:c.812G>A, NM_001353248.2:c.812G>T, NM_001353248.2:c.812G>A, NM_001353248.1:c.812G>T, NM_001353248.1:c.812G>A, NM_001353264.2:c.812G>T, NM_001353264.2:c.812G>A, NM_001353264.1:c.812G>T, NM_001353264.1:c.812G>A, NM_001353289.2:c.374G>T, NM_001353289.2:c.374G>A, NM_001353289.1:c.374G>T, NM_001353289.1:c.374G>A, NM_001353314.2:c.812G>T, NM_001353314.2:c.812G>A, NM_001353314.1:c.812G>T, NM_001353314.1:c.812G>A, NM_001256763.2:c.812G>T, NM_001256763.2:c.812G>A, NM_001256763.1:c.812G>T, NM_001256763.1:c.812G>A, NM_001353256.2:c.812G>T, NM_001353256.2:c.812G>A, NM_001353256.1:c.812G>T, NM_001353256.1:c.812G>A, NM_001353265.2:c.812G>T, NM_001353265.2:c.812G>A, NM_001353265.1:c.812G>T, NM_001353265.1:c.812G>A, NM_001353310.2:c.812G>T, NM_001353310.2:c.812G>A, NM_001353310.1:c.812G>T, NM_001353310.1:c.812G>A, NM_001353262.2:c.812G>T, NM_001353262.2:c.812G>A, NM_001353262.1:c.812G>T, NM_001353262.1:c.812G>A, NM_001353316.2:c.788G>T, NM_001353316.2:c.788G>A, NM_001353316.1:c.788G>T, NM_001353316.1:c.788G>A, NM_001353290.2:c.374G>T, NM_001353290.2:c.374G>A, NM_001353290.1:c.374G>T, NM_001353290.1:c.374G>A, NM_001353285.2:c.374G>T, NM_001353285.2:c.374G>A, NM_001353285.1:c.374G>T, NM_001353285.1:c.374G>A, NM_001353306.2:c.812G>T, NM_001353306.2:c.812G>A, NM_001353306.1:c.812G>T, NM_001353306.1:c.812G>A, NM_001353260.2:c.812G>T, NM_001353260.2:c.812G>A, NM_001353260.1:c.812G>T, NM_001353260.1:c.812G>A, NM_001353294.2:c.374G>T, NM_001353294.2:c.374G>A, NM_001353294.1:c.374G>T, NM_001353294.1:c.374G>A, NM_001353298.2:c.374G>T, NM_001353298.2:c.374G>A, NM_001353298.1:c.374G>T, NM_001353298.1:c.374G>A, NM_001353284.2:c.374G>T, NM_001353284.2:c.374G>A, NM_001353284.1:c.374G>T, NM_001353284.1:c.374G>A, NM_001353257.2:c.812G>T, NM_001353257.2:c.812G>A, NM_001353257.1:c.812G>T, NM_001353257.1:c.812G>A, NM_001353313.2:c.812G>T, NM_001353313.2:c.812G>A, NM_001353313.1:c.812G>T, NM_001353313.1:c.812G>A, NM_001353292.2:c.374G>T, NM_001353292.2:c.374G>A, NM_001353292.1:c.374G>T, NM_001353292.1:c.374G>A, NM_001353291.2:c.374G>T, NM_001353291.2:c.374G>A, NM_001353291.1:c.374G>T, NM_001353291.1:c.374G>A, NM_001353263.2:c.812G>T, NM_001353263.2:c.812G>A, NM_001353263.1:c.812G>T, NM_001353263.1:c.812G>A, NM_001353299.2:c.374G>T, NM_001353299.2:c.374G>A, NM_001353299.1:c.374G>T, NM_001353299.1:c.374G>A, NM_001353295.2:c.374G>T, NM_001353295.2:c.374G>A, NM_001353295.1:c.374G>T, NM_001353295.1:c.374G>A, NM_001353266.2:c.812G>T, NM_001353266.2:c.812G>A, NM_001353266.1:c.812G>T, NM_001353266.1:c.812G>A, NM_001353276.2:c.374G>T, NM_001353276.2:c.374G>A, NM_001353276.1:c.374G>T, NM_001353276.1:c.374G>A, NM_001353286.2:c.374G>T, NM_001353286.2:c.374G>A, NM_001353286.1:c.374G>T, NM_001353286.1:c.374G>A, NM_001353288.2:c.374G>T, NM_001353288.2:c.374G>A, NM_001353288.1:c.374G>T, NM_001353288.1:c.374G>A, NM_001353283.2:c.374G>T, NM_001353283.2:c.374G>A, NM_001353283.1:c.374G>T, NM_001353283.1:c.374G>A, NM_001330612.2:c.374G>T, NM_001330612.2:c.374G>A, NM_001330612.1:c.374G>T, NM_001330612.1:c.374G>A, NM_001353293.2:c.374G>T, NM_001353293.2:c.374G>A, NM_001353293.1:c.374G>T, NM_001353293.1:c.374G>A, NM_001353301.2:c.374G>T, NM_001353301.2:c.374G>A, NM_001353301.1:c.374G>T, NM_001353301.1:c.374G>A, NM_001353282.2:c.374G>T, NM_001353282.2:c.374G>A, NM_001353282.1:c.374G>T, NM_001353282.1:c.374G>A, NM_001353297.2:c.374G>T, NM_001353297.2:c.374G>A, NM_001353297.1:c.374G>T, NM_001353297.1:c.374G>A, NR_046359.1:n.1479G>T, NR_046359.1:n.1479G>A, NR_046360.1:n.1389G>T, NR_046360.1:n.1389G>A, NR_046361.1:n.1379G>T, NR_046361.1:n.1379G>A, NM_001353251.1:c.812G>T, NM_001353251.1:c.812G>A, XM_047421856.1:c.812G>T, XM_047421856.1:c.812G>A, NM_001353309.1:c.812G>T, NM_001353309.1:c.812G>A, NM_001353255.1:c.812G>T, NM_001353255.1:c.812G>A, NM_001353253.1:c.812G>T, NM_001353253.1:c.812G>A, NM_001353275.1:c.374G>T, NM_001353275.1:c.374G>A, NM_001353247.1:c.812G>T, NM_001353247.1:c.812G>A, NM_001353245.1:c.812G>T, NM_001353245.1:c.812G>A, NM_001353272.1:c.374G>T, NM_001353272.1:c.374G>A, NM_001353302.1:c.812G>T, NM_001353302.1:c.812G>A, NM_001353250.1:c.812G>T, NM_001353250.1:c.812G>A, NM_001353279.1:c.374G>T, NM_001353279.1:c.374G>A, NM_001353304.1:c.812G>T, NM_001353304.1:c.812G>A, NM_001353246.1:c.812G>T, NM_001353246.1:c.812G>A, NM_001353303.1:c.812G>T, NM_001353303.1:c.812G>A, NM_001353270.1:c.374G>T, NM_001353270.1:c.374G>A, NM_001353278.1:c.374G>T, NM_001353278.1:c.374G>A, NM_001353281.1:c.374G>T, NM_001353281.1:c.374G>A, NM_001353308.1:c.812G>T, NM_001353308.1:c.812G>A, NM_001353249.1:c.812G>T, NM_001353249.1:c.812G>A, XM_047421855.1:c.965G>T, XM_047421855.1:c.965G>A, NM_001353274.1:c.374G>T, NM_001353274.1:c.374G>A, NM_001353305.1:c.812G>T, NM_001353305.1:c.812G>A, NM_001353252.1:c.812G>T, NM_001353252.1:c.812G>A, NM_001353280.1:c.374G>T, NM_001353280.1:c.374G>A, NM_001353271.1:c.374G>T, NM_001353271.1:c.374G>A, NM_001353273.1:c.374G>T, NM_001353273.1:c.374G>A, NM_001353277.1:c.374G>T, NM_001353277.1:c.374G>A, XM_047421859.1:c.812G>T, XM_047421859.1:c.812G>A, XM_047421857.1:c.812G>T, XM_047421857.1:c.812G>A, NM_001353269.1:c.374G>T, NM_001353269.1:c.374G>A, NP_057707.3:p.Gly271Val, NP_057707.3:p.Gly271Glu, XP_011515423.2:p.Gly385Val, XP_011515423.2:p.Gly385Glu, NP_001340173.1:p.Gly271Val, NP_001340173.1:p.Gly271Glu, NP_001340188.1:p.Gly271Val, NP_001340188.1:p.Gly271Glu, NP_001340244.1:p.Gly271Val, NP_001340244.1:p.Gly271Glu, NP_001340171.1:p.Gly271Val, NP_001340171.1:p.Gly271Glu, NP_001340172.1:p.Gly271Val, NP_001340172.1:p.Gly271Glu, NP_001340183.1:p.Gly271Val, NP_001340183.1:p.Gly271Glu, NP_001340225.1:p.Gly125Val, NP_001340225.1:p.Gly125Glu, XP_024302948.1:p.Gly271Val, XP_024302948.1:p.Gly271Glu, NP_001340196.1:p.Gly271Val, NP_001340196.1:p.Gly271Glu, NP_001340229.1:p.Gly125Val, NP_001340229.1:p.Gly125Glu, NP_001340241.1:p.Gly271Val, NP_001340241.1:p.Gly271Glu, NP_001340190.1:p.Gly271Val, NP_001340190.1:p.Gly271Glu, NP_001340197.1:p.Gly271Val, NP_001340197.1:p.Gly271Glu, NP_001340216.1:p.Gly125Val, NP_001340216.1:p.Gly125Glu, NP_001340240.1:p.Gly271Val, NP_001340240.1:p.Gly271Glu, NP_001340236.1:p.Gly271Val, NP_001340236.1:p.Gly271Glu, NP_001340187.1:p.Gly271Val, NP_001340187.1:p.Gly271Glu, NP_001340177.1:p.Gly271Val, NP_001340177.1:p.Gly271Glu, NP_001340193.1:p.Gly271Val, NP_001340193.1:p.Gly271Glu, NP_001340218.1:p.Gly125Val, NP_001340218.1:p.Gly125Glu, NP_001340243.1:p.Gly271Val, NP_001340243.1:p.Gly271Glu, NP_001243692.1:p.Gly271Val, NP_001243692.1:p.Gly271Glu, NP_001340185.1:p.Gly271Val, NP_001340185.1:p.Gly271Glu, NP_001340194.1:p.Gly271Val, NP_001340194.1:p.Gly271Glu, NP_001340239.1:p.Gly271Val, NP_001340239.1:p.Gly271Glu, NP_001340191.1:p.Gly271Val, NP_001340191.1:p.Gly271Glu, NP_001340245.1:p.Gly263Val, NP_001340245.1:p.Gly263Glu, NP_001340219.1:p.Gly125Val, NP_001340219.1:p.Gly125Glu, NP_001340214.1:p.Gly125Val, NP_001340214.1:p.Gly125Glu, NP_001340235.1:p.Gly271Val, NP_001340235.1:p.Gly271Glu, NP_001340189.1:p.Gly271Val, NP_001340189.1:p.Gly271Glu, NP_001340223.1:p.Gly125Val, NP_001340223.1:p.Gly125Glu, NP_001340227.1:p.Gly125Val, NP_001340227.1:p.Gly125Glu, NP_001340213.1:p.Gly125Val, NP_001340213.1:p.Gly125Glu, NP_001340186.1:p.Gly271Val, NP_001340186.1:p.Gly271Glu, NP_001340242.1:p.Gly271Val, NP_001340242.1:p.Gly271Glu, NP_001340221.1:p.Gly125Val, NP_001340221.1:p.Gly125Glu, NP_001340220.1:p.Gly125Val, NP_001340220.1:p.Gly125Glu, NP_001340192.1:p.Gly271Val, NP_001340192.1:p.Gly271Glu, NP_001340228.1:p.Gly125Val, NP_001340228.1:p.Gly125Glu, NP_001340224.1:p.Gly125Val, NP_001340224.1:p.Gly125Glu, NP_001340195.1:p.Gly271Val, NP_001340195.1:p.Gly271Glu, NP_001340205.1:p.Gly125Val, NP_001340205.1:p.Gly125Glu, NP_001340215.1:p.Gly125Val, NP_001340215.1:p.Gly125Glu, NP_001340217.1:p.Gly125Val, NP_001340217.1:p.Gly125Glu, NP_001340212.1:p.Gly125Val, NP_001340212.1:p.Gly125Glu, NP_001317541.1:p.Gly125Val, NP_001317541.1:p.Gly125Glu, NP_001340222.1:p.Gly125Val, NP_001340222.1:p.Gly125Glu, NP_001340230.1:p.Gly125Val, NP_001340230.1:p.Gly125Glu, NP_001340211.1:p.Gly125Val, NP_001340211.1:p.Gly125Glu, NP_001340226.1:p.Gly125Val, NP_001340226.1:p.Gly125Glu, NP_001340180.1:p.Gly271Val, NP_001340180.1:p.Gly271Glu, XP_047277812.1:p.Gly271Val, XP_047277812.1:p.Gly271Glu, NP_001340238.1:p.Gly271Val, NP_001340238.1:p.Gly271Glu, NP_001340184.1:p.Gly271Val, NP_001340184.1:p.Gly271Glu, NP_001340182.1:p.Gly271Val, NP_001340182.1:p.Gly271Glu, NP_001340204.1:p.Gly125Val, NP_001340204.1:p.Gly125Glu, NP_001340176.1:p.Gly271Val, NP_001340176.1:p.Gly271Glu, NP_001340174.1:p.Gly271Val, NP_001340174.1:p.Gly271Glu, NP_001340201.1:p.Gly125Val, NP_001340201.1:p.Gly125Glu, NP_001340231.1:p.Gly271Val, NP_001340231.1:p.Gly271Glu, NP_001340179.1:p.Gly271Val, NP_001340179.1:p.Gly271Glu, NP_001340208.1:p.Gly125Val, NP_001340208.1:p.Gly125Glu, NP_001340233.1:p.Gly271Val, NP_001340233.1:p.Gly271Glu, NP_001340175.1:p.Gly271Val, NP_001340175.1:p.Gly271Glu, NP_001340232.1:p.Gly271Val, NP_001340232.1:p.Gly271Glu, NP_001340199.1:p.Gly125Val, NP_001340199.1:p.Gly125Glu, NP_001340207.1:p.Gly125Val, NP_001340207.1:p.Gly125Glu, NP_001340210.1:p.Gly125Val, NP_001340210.1:p.Gly125Glu, NP_001340237.1:p.Gly271Val, NP_001340237.1:p.Gly271Glu, NP_001340178.1:p.Gly271Val, NP_001340178.1:p.Gly271Glu, XP_047277811.1:p.Gly322Val, XP_047277811.1:p.Gly322Glu, NP_001340203.1:p.Gly125Val, NP_001340203.1:p.Gly125Glu, NP_001340234.1:p.Gly271Val, NP_001340234.1:p.Gly271Glu, NP_001340181.1:p.Gly271Val, NP_001340181.1:p.Gly271Glu, NP_001340209.1:p.Gly125Val, NP_001340209.1:p.Gly125Glu, NP_001340200.1:p.Gly125Val, NP_001340200.1:p.Gly125Glu, NP_001340202.1:p.Gly125Val, NP_001340202.1:p.Gly125Glu, NP_001340206.1:p.Gly125Val, NP_001340206.1:p.Gly125Glu, XP_047277815.1:p.Gly271Val, XP_047277815.1:p.Gly271Glu, XP_047277813.1:p.Gly271Val, XP_047277813.1:p.Gly271Glu, NP_001340198.1:p.Gly125Val, NP_001340198.1:p.Gly125Glu

          5.

          rs1445642879 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            8:129849317 (GRCh38)
            8:130861563 (GRCh37)
            Canonical SPDI:
            NC_000008.11:129849316:C:T
            Gene:
            CYRIB (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0.000111/1 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000008.11:g.129849317C>T, NC_000008.10:g.130861563C>T, NM_016623.5:c.766G>A, NM_016623.4:c.766G>A, XM_011517121.4:c.1108G>A, XM_011517121.3:c.766G>A, XM_011517121.2:c.766G>A, XM_011517121.1:c.766G>A, NM_001353244.2:c.766G>A, NM_001353244.1:c.766G>A, NM_001353259.2:c.766G>A, NM_001353259.1:c.766G>A, NM_001353315.2:c.766G>A, NM_001353315.1:c.766G>A, NM_001353242.2:c.766G>A, NM_001353242.1:c.766G>A, NM_001353243.2:c.766G>A, NM_001353243.1:c.766G>A, NM_001353254.2:c.766G>A, NM_001353254.1:c.766G>A, NM_001353296.2:c.328G>A, NM_001353296.1:c.328G>A, XM_024447180.2:c.766G>A, XM_024447180.1:c.766G>A, NM_001353267.2:c.766G>A, NM_001353267.1:c.766G>A, NM_001353300.2:c.328G>A, NM_001353300.1:c.328G>A, NM_001353312.2:c.766G>A, NM_001353312.1:c.766G>A, NM_001353261.2:c.766G>A, NM_001353261.1:c.766G>A, NM_001353268.2:c.766G>A, NM_001353268.1:c.766G>A, NM_001353287.2:c.328G>A, NM_001353287.1:c.328G>A, NM_001353311.2:c.766G>A, NM_001353311.1:c.766G>A, NM_001353307.2:c.766G>A, NM_001353307.1:c.766G>A, NM_001353258.2:c.766G>A, NM_001353258.1:c.766G>A, NM_001353248.2:c.766G>A, NM_001353248.1:c.766G>A, NM_001353264.2:c.766G>A, NM_001353264.1:c.766G>A, NM_001353289.2:c.328G>A, NM_001353289.1:c.328G>A, NM_001353314.2:c.766G>A, NM_001353314.1:c.766G>A, NM_001256763.2:c.766G>A, NM_001256763.1:c.766G>A, NM_001353256.2:c.766G>A, NM_001353256.1:c.766G>A, NM_001353265.2:c.766G>A, NM_001353265.1:c.766G>A, NM_001353310.2:c.766G>A, NM_001353310.1:c.766G>A, NM_001353262.2:c.766G>A, NM_001353262.1:c.766G>A, NM_001353316.2:c.742G>A, NM_001353316.1:c.742G>A, NM_001353290.2:c.328G>A, NM_001353290.1:c.328G>A, NM_001353285.2:c.328G>A, NM_001353285.1:c.328G>A, NM_001353306.2:c.766G>A, NM_001353306.1:c.766G>A, NM_001353260.2:c.766G>A, NM_001353260.1:c.766G>A, NM_001353294.2:c.328G>A, NM_001353294.1:c.328G>A, NM_001353298.2:c.328G>A, NM_001353298.1:c.328G>A, NM_001353284.2:c.328G>A, NM_001353284.1:c.328G>A, NM_001353257.2:c.766G>A, NM_001353257.1:c.766G>A, NM_001353313.2:c.766G>A, NM_001353313.1:c.766G>A, NM_001353292.2:c.328G>A, NM_001353292.1:c.328G>A, NM_001353291.2:c.328G>A, NM_001353291.1:c.328G>A, NM_001353263.2:c.766G>A, NM_001353263.1:c.766G>A, NM_001353299.2:c.328G>A, NM_001353299.1:c.328G>A, NM_001353295.2:c.328G>A, NM_001353295.1:c.328G>A, NM_001353266.2:c.766G>A, NM_001353266.1:c.766G>A, NM_001353276.2:c.328G>A, NM_001353276.1:c.328G>A, NM_001353286.2:c.328G>A, NM_001353286.1:c.328G>A, NM_001353288.2:c.328G>A, NM_001353288.1:c.328G>A, NM_001353283.2:c.328G>A, NM_001353283.1:c.328G>A, NM_001330612.2:c.328G>A, NM_001330612.1:c.328G>A, NM_001353293.2:c.328G>A, NM_001353293.1:c.328G>A, NM_001353301.2:c.328G>A, NM_001353301.1:c.328G>A, NM_001353282.2:c.328G>A, NM_001353282.1:c.328G>A, NM_001353297.2:c.328G>A, NM_001353297.1:c.328G>A, NR_046359.1:n.1433G>A, NR_046360.1:n.1343G>A, NR_046361.1:n.1333G>A, NM_001353251.1:c.766G>A, XM_047421856.1:c.766G>A, NM_001353309.1:c.766G>A, NM_001353255.1:c.766G>A, NM_001353253.1:c.766G>A, NM_001353275.1:c.328G>A, NM_001353247.1:c.766G>A, NM_001353245.1:c.766G>A, NM_001353272.1:c.328G>A, NM_001353302.1:c.766G>A, NM_001353250.1:c.766G>A, NM_001353279.1:c.328G>A, NM_001353304.1:c.766G>A, NM_001353246.1:c.766G>A, NM_001353303.1:c.766G>A, NM_001353270.1:c.328G>A, NM_001353278.1:c.328G>A, NM_001353281.1:c.328G>A, NM_001353308.1:c.766G>A, NM_001353249.1:c.766G>A, XM_047421855.1:c.919G>A, NM_001353274.1:c.328G>A, NM_001353305.1:c.766G>A, NM_001353252.1:c.766G>A, NM_001353280.1:c.328G>A, NM_001353271.1:c.328G>A, NM_001353273.1:c.328G>A, NM_001353277.1:c.328G>A, XM_047421859.1:c.766G>A, XM_047421857.1:c.766G>A, NM_001353269.1:c.328G>A, NP_057707.3:p.Val256Ile, XP_011515423.2:p.Val370Ile, NP_001340173.1:p.Val256Ile, NP_001340188.1:p.Val256Ile, NP_001340244.1:p.Val256Ile, NP_001340171.1:p.Val256Ile, NP_001340172.1:p.Val256Ile, NP_001340183.1:p.Val256Ile, NP_001340225.1:p.Val110Ile, XP_024302948.1:p.Val256Ile, NP_001340196.1:p.Val256Ile, NP_001340229.1:p.Val110Ile, NP_001340241.1:p.Val256Ile, NP_001340190.1:p.Val256Ile, NP_001340197.1:p.Val256Ile, NP_001340216.1:p.Val110Ile, NP_001340240.1:p.Val256Ile, NP_001340236.1:p.Val256Ile, NP_001340187.1:p.Val256Ile, NP_001340177.1:p.Val256Ile, NP_001340193.1:p.Val256Ile, NP_001340218.1:p.Val110Ile, NP_001340243.1:p.Val256Ile, NP_001243692.1:p.Val256Ile, NP_001340185.1:p.Val256Ile, NP_001340194.1:p.Val256Ile, NP_001340239.1:p.Val256Ile, NP_001340191.1:p.Val256Ile, NP_001340245.1:p.Val248Ile, NP_001340219.1:p.Val110Ile, NP_001340214.1:p.Val110Ile, NP_001340235.1:p.Val256Ile, NP_001340189.1:p.Val256Ile, NP_001340223.1:p.Val110Ile, NP_001340227.1:p.Val110Ile, NP_001340213.1:p.Val110Ile, NP_001340186.1:p.Val256Ile, NP_001340242.1:p.Val256Ile, NP_001340221.1:p.Val110Ile, NP_001340220.1:p.Val110Ile, NP_001340192.1:p.Val256Ile, NP_001340228.1:p.Val110Ile, NP_001340224.1:p.Val110Ile, NP_001340195.1:p.Val256Ile, NP_001340205.1:p.Val110Ile, NP_001340215.1:p.Val110Ile, NP_001340217.1:p.Val110Ile, NP_001340212.1:p.Val110Ile, NP_001317541.1:p.Val110Ile, NP_001340222.1:p.Val110Ile, NP_001340230.1:p.Val110Ile, NP_001340211.1:p.Val110Ile, NP_001340226.1:p.Val110Ile, NP_001340180.1:p.Val256Ile, XP_047277812.1:p.Val256Ile, NP_001340238.1:p.Val256Ile, NP_001340184.1:p.Val256Ile, NP_001340182.1:p.Val256Ile, NP_001340204.1:p.Val110Ile, NP_001340176.1:p.Val256Ile, NP_001340174.1:p.Val256Ile, NP_001340201.1:p.Val110Ile, NP_001340231.1:p.Val256Ile, NP_001340179.1:p.Val256Ile, NP_001340208.1:p.Val110Ile, NP_001340233.1:p.Val256Ile, NP_001340175.1:p.Val256Ile, NP_001340232.1:p.Val256Ile, NP_001340199.1:p.Val110Ile, NP_001340207.1:p.Val110Ile, NP_001340210.1:p.Val110Ile, NP_001340237.1:p.Val256Ile, NP_001340178.1:p.Val256Ile, XP_047277811.1:p.Val307Ile, NP_001340203.1:p.Val110Ile, NP_001340234.1:p.Val256Ile, NP_001340181.1:p.Val256Ile, NP_001340209.1:p.Val110Ile, NP_001340200.1:p.Val110Ile, NP_001340202.1:p.Val110Ile, NP_001340206.1:p.Val110Ile, XP_047277815.1:p.Val256Ile, XP_047277813.1:p.Val256Ile, NP_001340198.1:p.Val110Ile

            6.

            rs1443602400 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              8:129852186 (GRCh38)
              8:130864432 (GRCh37)
              Canonical SPDI:
              NC_000008.11:129852185:A:G
              Gene:
              CYRIB (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000014/3 (GnomAD_exomes)
              G=0.00003/8 (TOPMED)
              G=0.00005/7 (GnomAD)
              HGVS:
              NC_000008.11:g.129852186A>G, NC_000008.10:g.130864432A>G, NM_016623.5:c.609T>C, NM_016623.4:c.609T>C, XM_011517121.4:c.951T>C, XM_011517121.3:c.609T>C, XM_011517121.2:c.609T>C, XM_011517121.1:c.609T>C, NM_001353244.2:c.609T>C, NM_001353244.1:c.609T>C, NM_001353259.2:c.609T>C, NM_001353259.1:c.609T>C, NM_001353315.2:c.609T>C, NM_001353315.1:c.609T>C, NM_001353242.2:c.609T>C, NM_001353242.1:c.609T>C, NM_001353243.2:c.609T>C, NM_001353243.1:c.609T>C, NM_001353254.2:c.609T>C, NM_001353254.1:c.609T>C, NM_001353296.2:c.171T>C, NM_001353296.1:c.171T>C, XM_024447180.2:c.609T>C, XM_024447180.1:c.609T>C, NM_001353267.2:c.609T>C, NM_001353267.1:c.609T>C, NM_001353300.2:c.171T>C, NM_001353300.1:c.171T>C, NM_001353312.2:c.609T>C, NM_001353312.1:c.609T>C, NM_001353261.2:c.609T>C, NM_001353261.1:c.609T>C, NM_001353268.2:c.609T>C, NM_001353268.1:c.609T>C, NM_001353287.2:c.171T>C, NM_001353287.1:c.171T>C, NM_001353311.2:c.609T>C, NM_001353311.1:c.609T>C, NM_001353307.2:c.609T>C, NM_001353307.1:c.609T>C, NM_001353258.2:c.609T>C, NM_001353258.1:c.609T>C, NM_001353248.2:c.609T>C, NM_001353248.1:c.609T>C, NM_001353264.2:c.609T>C, NM_001353264.1:c.609T>C, NM_001353289.2:c.171T>C, NM_001353289.1:c.171T>C, NM_001353314.2:c.609T>C, NM_001353314.1:c.609T>C, NM_001256763.2:c.609T>C, NM_001256763.1:c.609T>C, NM_001353256.2:c.609T>C, NM_001353256.1:c.609T>C, NM_001353265.2:c.609T>C, NM_001353265.1:c.609T>C, NM_001353310.2:c.609T>C, NM_001353310.1:c.609T>C, NM_001353262.2:c.609T>C, NM_001353262.1:c.609T>C, NM_001353316.2:c.585T>C, NM_001353316.1:c.585T>C, NM_001353290.2:c.171T>C, NM_001353290.1:c.171T>C, NM_001353285.2:c.171T>C, NM_001353285.1:c.171T>C, NM_001353306.2:c.609T>C, NM_001353306.1:c.609T>C, NM_001353260.2:c.609T>C, NM_001353260.1:c.609T>C, NM_001353294.2:c.171T>C, NM_001353294.1:c.171T>C, NM_001353298.2:c.171T>C, NM_001353298.1:c.171T>C, NM_001353284.2:c.171T>C, NM_001353284.1:c.171T>C, NM_001353257.2:c.609T>C, NM_001353257.1:c.609T>C, NM_001353313.2:c.609T>C, NM_001353313.1:c.609T>C, NM_001353292.2:c.171T>C, NM_001353292.1:c.171T>C, NM_001353291.2:c.171T>C, NM_001353291.1:c.171T>C, NM_001353263.2:c.609T>C, NM_001353263.1:c.609T>C, NM_001353299.2:c.171T>C, NM_001353299.1:c.171T>C, NM_001353295.2:c.171T>C, NM_001353295.1:c.171T>C, NM_001353266.2:c.609T>C, NM_001353266.1:c.609T>C, NM_001353276.2:c.171T>C, NM_001353276.1:c.171T>C, NM_001353286.2:c.171T>C, NM_001353286.1:c.171T>C, NM_001353288.2:c.171T>C, NM_001353288.1:c.171T>C, NM_001353283.2:c.171T>C, NM_001353283.1:c.171T>C, NM_001330612.2:c.171T>C, NM_001330612.1:c.171T>C, NM_001353293.2:c.171T>C, NM_001353293.1:c.171T>C, NM_001353301.2:c.171T>C, NM_001353301.1:c.171T>C, NM_001353282.2:c.171T>C, NM_001353282.1:c.171T>C, NM_001353297.2:c.171T>C, NM_001353297.1:c.171T>C, NR_046359.1:n.1276T>C, NR_046360.1:n.1186T>C, NR_046361.1:n.1176T>C, NM_001353251.1:c.609T>C, XM_047421856.1:c.609T>C, NM_001353309.1:c.609T>C, NM_001353255.1:c.609T>C, NM_001353253.1:c.609T>C, NM_001353275.1:c.171T>C, NM_001353247.1:c.609T>C, NM_001353245.1:c.609T>C, NM_001353272.1:c.171T>C, NM_001353302.1:c.609T>C, NM_001353250.1:c.609T>C, NM_001353279.1:c.171T>C, NM_001353304.1:c.609T>C, NM_001353246.1:c.609T>C, NM_001353303.1:c.609T>C, NM_001353270.1:c.171T>C, NM_001353278.1:c.171T>C, NM_001353281.1:c.171T>C, NM_001353308.1:c.609T>C, NM_001353249.1:c.609T>C, XM_047421855.1:c.762T>C, NM_001353274.1:c.171T>C, NM_001353305.1:c.609T>C, NM_001353252.1:c.609T>C, NM_001353280.1:c.171T>C, NM_001353271.1:c.171T>C, NM_001353273.1:c.171T>C, NM_001353277.1:c.171T>C, XM_047421859.1:c.609T>C, XM_047421857.1:c.609T>C, NM_001353269.1:c.171T>C

              7.

              rs1440015812 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                8:129852168 (GRCh38)
                8:130864414 (GRCh37)
                Canonical SPDI:
                NC_000008.11:129852167:T:C
                Gene:
                CYRIB (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                C=0.000009/2 (GnomAD_exomes)
                HGVS:
                NC_000008.11:g.129852168T>C, NC_000008.10:g.130864414T>C, NM_016623.5:c.627A>G, NM_016623.4:c.627A>G, XM_011517121.4:c.969A>G, XM_011517121.3:c.627A>G, XM_011517121.2:c.627A>G, XM_011517121.1:c.627A>G, NM_001353244.2:c.627A>G, NM_001353244.1:c.627A>G, NM_001353259.2:c.627A>G, NM_001353259.1:c.627A>G, NM_001353315.2:c.627A>G, NM_001353315.1:c.627A>G, NM_001353242.2:c.627A>G, NM_001353242.1:c.627A>G, NM_001353243.2:c.627A>G, NM_001353243.1:c.627A>G, NM_001353254.2:c.627A>G, NM_001353254.1:c.627A>G, NM_001353296.2:c.189A>G, NM_001353296.1:c.189A>G, XM_024447180.2:c.627A>G, XM_024447180.1:c.627A>G, NM_001353267.2:c.627A>G, NM_001353267.1:c.627A>G, NM_001353300.2:c.189A>G, NM_001353300.1:c.189A>G, NM_001353312.2:c.627A>G, NM_001353312.1:c.627A>G, NM_001353261.2:c.627A>G, NM_001353261.1:c.627A>G, NM_001353268.2:c.627A>G, NM_001353268.1:c.627A>G, NM_001353287.2:c.189A>G, NM_001353287.1:c.189A>G, NM_001353311.2:c.627A>G, NM_001353311.1:c.627A>G, NM_001353307.2:c.627A>G, NM_001353307.1:c.627A>G, NM_001353258.2:c.627A>G, NM_001353258.1:c.627A>G, NM_001353248.2:c.627A>G, NM_001353248.1:c.627A>G, NM_001353264.2:c.627A>G, NM_001353264.1:c.627A>G, NM_001353289.2:c.189A>G, NM_001353289.1:c.189A>G, NM_001353314.2:c.627A>G, NM_001353314.1:c.627A>G, NM_001256763.2:c.627A>G, NM_001256763.1:c.627A>G, NM_001353256.2:c.627A>G, NM_001353256.1:c.627A>G, NM_001353265.2:c.627A>G, NM_001353265.1:c.627A>G, NM_001353310.2:c.627A>G, NM_001353310.1:c.627A>G, NM_001353262.2:c.627A>G, NM_001353262.1:c.627A>G, NM_001353316.2:c.603A>G, NM_001353316.1:c.603A>G, NM_001353290.2:c.189A>G, NM_001353290.1:c.189A>G, NM_001353285.2:c.189A>G, NM_001353285.1:c.189A>G, NM_001353306.2:c.627A>G, NM_001353306.1:c.627A>G, NM_001353260.2:c.627A>G, NM_001353260.1:c.627A>G, NM_001353294.2:c.189A>G, NM_001353294.1:c.189A>G, NM_001353298.2:c.189A>G, NM_001353298.1:c.189A>G, NM_001353284.2:c.189A>G, NM_001353284.1:c.189A>G, NM_001353257.2:c.627A>G, NM_001353257.1:c.627A>G, NM_001353313.2:c.627A>G, NM_001353313.1:c.627A>G, NM_001353292.2:c.189A>G, NM_001353292.1:c.189A>G, NM_001353291.2:c.189A>G, NM_001353291.1:c.189A>G, NM_001353263.2:c.627A>G, NM_001353263.1:c.627A>G, NM_001353299.2:c.189A>G, NM_001353299.1:c.189A>G, NM_001353295.2:c.189A>G, NM_001353295.1:c.189A>G, NM_001353266.2:c.627A>G, NM_001353266.1:c.627A>G, NM_001353276.2:c.189A>G, NM_001353276.1:c.189A>G, NM_001353286.2:c.189A>G, NM_001353286.1:c.189A>G, NM_001353288.2:c.189A>G, NM_001353288.1:c.189A>G, NM_001353283.2:c.189A>G, NM_001353283.1:c.189A>G, NM_001330612.2:c.189A>G, NM_001330612.1:c.189A>G, NM_001353293.2:c.189A>G, NM_001353293.1:c.189A>G, NM_001353301.2:c.189A>G, NM_001353301.1:c.189A>G, NM_001353282.2:c.189A>G, NM_001353282.1:c.189A>G, NM_001353297.2:c.189A>G, NM_001353297.1:c.189A>G, NR_046359.1:n.1294A>G, NR_046360.1:n.1204A>G, NR_046361.1:n.1194A>G, NM_001353251.1:c.627A>G, XM_047421856.1:c.627A>G, NM_001353309.1:c.627A>G, NM_001353255.1:c.627A>G, NM_001353253.1:c.627A>G, NM_001353275.1:c.189A>G, NM_001353247.1:c.627A>G, NM_001353245.1:c.627A>G, NM_001353272.1:c.189A>G, NM_001353302.1:c.627A>G, NM_001353250.1:c.627A>G, NM_001353279.1:c.189A>G, NM_001353304.1:c.627A>G, NM_001353246.1:c.627A>G, NM_001353303.1:c.627A>G, NM_001353270.1:c.189A>G, NM_001353278.1:c.189A>G, NM_001353281.1:c.189A>G, NM_001353308.1:c.627A>G, NM_001353249.1:c.627A>G, XM_047421855.1:c.780A>G, NM_001353274.1:c.189A>G, NM_001353305.1:c.627A>G, NM_001353252.1:c.627A>G, NM_001353280.1:c.189A>G, NM_001353271.1:c.189A>G, NM_001353273.1:c.189A>G, NM_001353277.1:c.189A>G, XM_047421859.1:c.627A>G, XM_047421857.1:c.627A>G, NM_001353269.1:c.189A>G

                8.

                rs1430991944 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  8:129849335 (GRCh38)
                  8:130861581 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:129849334:C:G
                  Gene:
                  CYRIB (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_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.129849335C>G, NC_000008.10:g.130861581C>G, NM_016623.5:c.748G>C, NM_016623.4:c.748G>C, XM_011517121.4:c.1090G>C, XM_011517121.3:c.748G>C, XM_011517121.2:c.748G>C, XM_011517121.1:c.748G>C, NM_001353244.2:c.748G>C, NM_001353244.1:c.748G>C, NM_001353259.2:c.748G>C, NM_001353259.1:c.748G>C, NM_001353315.2:c.748G>C, NM_001353315.1:c.748G>C, NM_001353242.2:c.748G>C, NM_001353242.1:c.748G>C, NM_001353243.2:c.748G>C, NM_001353243.1:c.748G>C, NM_001353254.2:c.748G>C, NM_001353254.1:c.748G>C, NM_001353296.2:c.310G>C, NM_001353296.1:c.310G>C, XM_024447180.2:c.748G>C, XM_024447180.1:c.748G>C, NM_001353267.2:c.748G>C, NM_001353267.1:c.748G>C, NM_001353300.2:c.310G>C, NM_001353300.1:c.310G>C, NM_001353312.2:c.748G>C, NM_001353312.1:c.748G>C, NM_001353261.2:c.748G>C, NM_001353261.1:c.748G>C, NM_001353268.2:c.748G>C, NM_001353268.1:c.748G>C, NM_001353287.2:c.310G>C, NM_001353287.1:c.310G>C, NM_001353311.2:c.748G>C, NM_001353311.1:c.748G>C, NM_001353307.2:c.748G>C, NM_001353307.1:c.748G>C, NM_001353258.2:c.748G>C, NM_001353258.1:c.748G>C, NM_001353248.2:c.748G>C, NM_001353248.1:c.748G>C, NM_001353264.2:c.748G>C, NM_001353264.1:c.748G>C, NM_001353289.2:c.310G>C, NM_001353289.1:c.310G>C, NM_001353314.2:c.748G>C, NM_001353314.1:c.748G>C, NM_001256763.2:c.748G>C, NM_001256763.1:c.748G>C, NM_001353256.2:c.748G>C, NM_001353256.1:c.748G>C, NM_001353265.2:c.748G>C, NM_001353265.1:c.748G>C, NM_001353310.2:c.748G>C, NM_001353310.1:c.748G>C, NM_001353262.2:c.748G>C, NM_001353262.1:c.748G>C, NM_001353316.2:c.724G>C, NM_001353316.1:c.724G>C, NM_001353290.2:c.310G>C, NM_001353290.1:c.310G>C, NM_001353285.2:c.310G>C, NM_001353285.1:c.310G>C, NM_001353306.2:c.748G>C, NM_001353306.1:c.748G>C, NM_001353260.2:c.748G>C, NM_001353260.1:c.748G>C, NM_001353294.2:c.310G>C, NM_001353294.1:c.310G>C, NM_001353298.2:c.310G>C, NM_001353298.1:c.310G>C, NM_001353284.2:c.310G>C, NM_001353284.1:c.310G>C, NM_001353257.2:c.748G>C, NM_001353257.1:c.748G>C, NM_001353313.2:c.748G>C, NM_001353313.1:c.748G>C, NM_001353292.2:c.310G>C, NM_001353292.1:c.310G>C, NM_001353291.2:c.310G>C, NM_001353291.1:c.310G>C, NM_001353263.2:c.748G>C, NM_001353263.1:c.748G>C, NM_001353299.2:c.310G>C, NM_001353299.1:c.310G>C, NM_001353295.2:c.310G>C, NM_001353295.1:c.310G>C, NM_001353266.2:c.748G>C, NM_001353266.1:c.748G>C, NM_001353276.2:c.310G>C, NM_001353276.1:c.310G>C, NM_001353286.2:c.310G>C, NM_001353286.1:c.310G>C, NM_001353288.2:c.310G>C, NM_001353288.1:c.310G>C, NM_001353283.2:c.310G>C, NM_001353283.1:c.310G>C, NM_001330612.2:c.310G>C, NM_001330612.1:c.310G>C, NM_001353293.2:c.310G>C, NM_001353293.1:c.310G>C, NM_001353301.2:c.310G>C, NM_001353301.1:c.310G>C, NM_001353282.2:c.310G>C, NM_001353282.1:c.310G>C, NM_001353297.2:c.310G>C, NM_001353297.1:c.310G>C, NR_046359.1:n.1415G>C, NR_046360.1:n.1325G>C, NR_046361.1:n.1315G>C, NM_001353251.1:c.748G>C, XM_047421856.1:c.748G>C, NM_001353309.1:c.748G>C, NM_001353255.1:c.748G>C, NM_001353253.1:c.748G>C, NM_001353275.1:c.310G>C, NM_001353247.1:c.748G>C, NM_001353245.1:c.748G>C, NM_001353272.1:c.310G>C, NM_001353302.1:c.748G>C, NM_001353250.1:c.748G>C, NM_001353279.1:c.310G>C, NM_001353304.1:c.748G>C, NM_001353246.1:c.748G>C, NM_001353303.1:c.748G>C, NM_001353270.1:c.310G>C, NM_001353278.1:c.310G>C, NM_001353281.1:c.310G>C, NM_001353308.1:c.748G>C, NM_001353249.1:c.748G>C, XM_047421855.1:c.901G>C, NM_001353274.1:c.310G>C, NM_001353305.1:c.748G>C, NM_001353252.1:c.748G>C, NM_001353280.1:c.310G>C, NM_001353271.1:c.310G>C, NM_001353273.1:c.310G>C, NM_001353277.1:c.310G>C, XM_047421859.1:c.748G>C, XM_047421857.1:c.748G>C, NM_001353269.1:c.310G>C, NP_057707.3:p.Val250Leu, XP_011515423.2:p.Val364Leu, NP_001340173.1:p.Val250Leu, NP_001340188.1:p.Val250Leu, NP_001340244.1:p.Val250Leu, NP_001340171.1:p.Val250Leu, NP_001340172.1:p.Val250Leu, NP_001340183.1:p.Val250Leu, NP_001340225.1:p.Val104Leu, XP_024302948.1:p.Val250Leu, NP_001340196.1:p.Val250Leu, NP_001340229.1:p.Val104Leu, NP_001340241.1:p.Val250Leu, NP_001340190.1:p.Val250Leu, NP_001340197.1:p.Val250Leu, NP_001340216.1:p.Val104Leu, NP_001340240.1:p.Val250Leu, NP_001340236.1:p.Val250Leu, NP_001340187.1:p.Val250Leu, NP_001340177.1:p.Val250Leu, NP_001340193.1:p.Val250Leu, NP_001340218.1:p.Val104Leu, NP_001340243.1:p.Val250Leu, NP_001243692.1:p.Val250Leu, NP_001340185.1:p.Val250Leu, NP_001340194.1:p.Val250Leu, NP_001340239.1:p.Val250Leu, NP_001340191.1:p.Val250Leu, NP_001340245.1:p.Val242Leu, NP_001340219.1:p.Val104Leu, NP_001340214.1:p.Val104Leu, NP_001340235.1:p.Val250Leu, NP_001340189.1:p.Val250Leu, NP_001340223.1:p.Val104Leu, NP_001340227.1:p.Val104Leu, NP_001340213.1:p.Val104Leu, NP_001340186.1:p.Val250Leu, NP_001340242.1:p.Val250Leu, NP_001340221.1:p.Val104Leu, NP_001340220.1:p.Val104Leu, NP_001340192.1:p.Val250Leu, NP_001340228.1:p.Val104Leu, NP_001340224.1:p.Val104Leu, NP_001340195.1:p.Val250Leu, NP_001340205.1:p.Val104Leu, NP_001340215.1:p.Val104Leu, NP_001340217.1:p.Val104Leu, NP_001340212.1:p.Val104Leu, NP_001317541.1:p.Val104Leu, NP_001340222.1:p.Val104Leu, NP_001340230.1:p.Val104Leu, NP_001340211.1:p.Val104Leu, NP_001340226.1:p.Val104Leu, NP_001340180.1:p.Val250Leu, XP_047277812.1:p.Val250Leu, NP_001340238.1:p.Val250Leu, NP_001340184.1:p.Val250Leu, NP_001340182.1:p.Val250Leu, NP_001340204.1:p.Val104Leu, NP_001340176.1:p.Val250Leu, NP_001340174.1:p.Val250Leu, NP_001340201.1:p.Val104Leu, NP_001340231.1:p.Val250Leu, NP_001340179.1:p.Val250Leu, NP_001340208.1:p.Val104Leu, NP_001340233.1:p.Val250Leu, NP_001340175.1:p.Val250Leu, NP_001340232.1:p.Val250Leu, NP_001340199.1:p.Val104Leu, NP_001340207.1:p.Val104Leu, NP_001340210.1:p.Val104Leu, NP_001340237.1:p.Val250Leu, NP_001340178.1:p.Val250Leu, XP_047277811.1:p.Val301Leu, NP_001340203.1:p.Val104Leu, NP_001340234.1:p.Val250Leu, NP_001340181.1:p.Val250Leu, NP_001340209.1:p.Val104Leu, NP_001340200.1:p.Val104Leu, NP_001340202.1:p.Val104Leu, NP_001340206.1:p.Val104Leu, XP_047277815.1:p.Val250Leu, XP_047277813.1:p.Val250Leu, NP_001340198.1:p.Val104Leu

                  9.

                  rs1423782950 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    8:129846858 (GRCh38)
                    8:130859104 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:129846857:T:C
                    Gene:
                    CYRIB (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    HGVS:
                    NC_000008.11:g.129846858T>C, NC_000008.10:g.130859104T>C, NM_016623.5:c.857A>G, NM_016623.4:c.857A>G, XM_011517121.4:c.1199A>G, XM_011517121.3:c.857A>G, XM_011517121.2:c.857A>G, XM_011517121.1:c.857A>G, NM_001353244.2:c.857A>G, NM_001353244.1:c.857A>G, NM_001353259.2:c.857A>G, NM_001353259.1:c.857A>G, NM_001353315.2:c.857A>G, NM_001353315.1:c.857A>G, NM_001353242.2:c.857A>G, NM_001353242.1:c.857A>G, NM_001353243.2:c.857A>G, NM_001353243.1:c.857A>G, NM_001353254.2:c.857A>G, NM_001353254.1:c.857A>G, NM_001353296.2:c.419A>G, NM_001353296.1:c.419A>G, XM_024447180.2:c.857A>G, XM_024447180.1:c.857A>G, NM_001353267.2:c.857A>G, NM_001353267.1:c.857A>G, NM_001353300.2:c.419A>G, NM_001353300.1:c.419A>G, NM_001353312.2:c.857A>G, NM_001353312.1:c.857A>G, NM_001353261.2:c.857A>G, NM_001353261.1:c.857A>G, NM_001353268.2:c.857A>G, NM_001353268.1:c.857A>G, NM_001353287.2:c.419A>G, NM_001353287.1:c.419A>G, NM_001353311.2:c.857A>G, NM_001353311.1:c.857A>G, NM_001353307.2:c.857A>G, NM_001353307.1:c.857A>G, NM_001353258.2:c.857A>G, NM_001353258.1:c.857A>G, NM_001353248.2:c.857A>G, NM_001353248.1:c.857A>G, NM_001353264.2:c.857A>G, NM_001353264.1:c.857A>G, NM_001353289.2:c.419A>G, NM_001353289.1:c.419A>G, NM_001353314.2:c.857A>G, NM_001353314.1:c.857A>G, NM_001256763.2:c.857A>G, NM_001256763.1:c.857A>G, NM_001353256.2:c.857A>G, NM_001353256.1:c.857A>G, NM_001353265.2:c.857A>G, NM_001353265.1:c.857A>G, NM_001353310.2:c.857A>G, NM_001353310.1:c.857A>G, NM_001353262.2:c.857A>G, NM_001353262.1:c.857A>G, NM_001353316.2:c.833A>G, NM_001353316.1:c.833A>G, NM_001353290.2:c.419A>G, NM_001353290.1:c.419A>G, NM_001353285.2:c.419A>G, NM_001353285.1:c.419A>G, NM_001353306.2:c.857A>G, NM_001353306.1:c.857A>G, NM_001353260.2:c.857A>G, NM_001353260.1:c.857A>G, NM_001353294.2:c.419A>G, NM_001353294.1:c.419A>G, NM_001353298.2:c.419A>G, NM_001353298.1:c.419A>G, NM_001353284.2:c.419A>G, NM_001353284.1:c.419A>G, NM_001353257.2:c.857A>G, NM_001353257.1:c.857A>G, NM_001353313.2:c.857A>G, NM_001353313.1:c.857A>G, NM_001353292.2:c.419A>G, NM_001353292.1:c.419A>G, NM_001353291.2:c.419A>G, NM_001353291.1:c.419A>G, NM_001353263.2:c.857A>G, NM_001353263.1:c.857A>G, NM_001353299.2:c.419A>G, NM_001353299.1:c.419A>G, NM_001353295.2:c.419A>G, NM_001353295.1:c.419A>G, NM_001353266.2:c.857A>G, NM_001353266.1:c.857A>G, NM_001353276.2:c.419A>G, NM_001353276.1:c.419A>G, NM_001353286.2:c.419A>G, NM_001353286.1:c.419A>G, NM_001353288.2:c.419A>G, NM_001353288.1:c.419A>G, NM_001353283.2:c.419A>G, NM_001353283.1:c.419A>G, NM_001330612.2:c.419A>G, NM_001330612.1:c.419A>G, NM_001353293.2:c.419A>G, NM_001353293.1:c.419A>G, NM_001353301.2:c.419A>G, NM_001353301.1:c.419A>G, NM_001353282.2:c.419A>G, NM_001353282.1:c.419A>G, NM_001353297.2:c.419A>G, NM_001353297.1:c.419A>G, NR_046359.1:n.1524A>G, NR_046360.1:n.1434A>G, NR_046361.1:n.1424A>G, NM_001353251.1:c.857A>G, XM_047421856.1:c.857A>G, NM_001353309.1:c.857A>G, NM_001353255.1:c.857A>G, NM_001353253.1:c.857A>G, NM_001353275.1:c.419A>G, NM_001353247.1:c.857A>G, NM_001353245.1:c.857A>G, NM_001353272.1:c.419A>G, NM_001353302.1:c.857A>G, NM_001353250.1:c.857A>G, NM_001353279.1:c.419A>G, NM_001353304.1:c.857A>G, NM_001353246.1:c.857A>G, NM_001353303.1:c.857A>G, NM_001353270.1:c.419A>G, NM_001353278.1:c.419A>G, NM_001353281.1:c.419A>G, NM_001353308.1:c.857A>G, NM_001353249.1:c.857A>G, XM_047421855.1:c.1010A>G, NM_001353274.1:c.419A>G, NM_001353305.1:c.857A>G, NM_001353252.1:c.857A>G, NM_001353280.1:c.419A>G, NM_001353271.1:c.419A>G, NM_001353273.1:c.419A>G, NM_001353277.1:c.419A>G, XM_047421859.1:c.857A>G, XM_047421857.1:c.857A>G, NM_001353269.1:c.419A>G, NP_057707.3:p.Lys286Arg, XP_011515423.2:p.Lys400Arg, NP_001340173.1:p.Lys286Arg, NP_001340188.1:p.Lys286Arg, NP_001340244.1:p.Lys286Arg, NP_001340171.1:p.Lys286Arg, NP_001340172.1:p.Lys286Arg, NP_001340183.1:p.Lys286Arg, NP_001340225.1:p.Lys140Arg, XP_024302948.1:p.Lys286Arg, NP_001340196.1:p.Lys286Arg, NP_001340229.1:p.Lys140Arg, NP_001340241.1:p.Lys286Arg, NP_001340190.1:p.Lys286Arg, NP_001340197.1:p.Lys286Arg, NP_001340216.1:p.Lys140Arg, NP_001340240.1:p.Lys286Arg, NP_001340236.1:p.Lys286Arg, NP_001340187.1:p.Lys286Arg, NP_001340177.1:p.Lys286Arg, NP_001340193.1:p.Lys286Arg, NP_001340218.1:p.Lys140Arg, NP_001340243.1:p.Lys286Arg, NP_001243692.1:p.Lys286Arg, NP_001340185.1:p.Lys286Arg, NP_001340194.1:p.Lys286Arg, NP_001340239.1:p.Lys286Arg, NP_001340191.1:p.Lys286Arg, NP_001340245.1:p.Lys278Arg, NP_001340219.1:p.Lys140Arg, NP_001340214.1:p.Lys140Arg, NP_001340235.1:p.Lys286Arg, NP_001340189.1:p.Lys286Arg, NP_001340223.1:p.Lys140Arg, NP_001340227.1:p.Lys140Arg, NP_001340213.1:p.Lys140Arg, NP_001340186.1:p.Lys286Arg, NP_001340242.1:p.Lys286Arg, NP_001340221.1:p.Lys140Arg, NP_001340220.1:p.Lys140Arg, NP_001340192.1:p.Lys286Arg, NP_001340228.1:p.Lys140Arg, NP_001340224.1:p.Lys140Arg, NP_001340195.1:p.Lys286Arg, NP_001340205.1:p.Lys140Arg, NP_001340215.1:p.Lys140Arg, NP_001340217.1:p.Lys140Arg, NP_001340212.1:p.Lys140Arg, NP_001317541.1:p.Lys140Arg, NP_001340222.1:p.Lys140Arg, NP_001340230.1:p.Lys140Arg, NP_001340211.1:p.Lys140Arg, NP_001340226.1:p.Lys140Arg, NP_001340180.1:p.Lys286Arg, XP_047277812.1:p.Lys286Arg, NP_001340238.1:p.Lys286Arg, NP_001340184.1:p.Lys286Arg, NP_001340182.1:p.Lys286Arg, NP_001340204.1:p.Lys140Arg, NP_001340176.1:p.Lys286Arg, NP_001340174.1:p.Lys286Arg, NP_001340201.1:p.Lys140Arg, NP_001340231.1:p.Lys286Arg, NP_001340179.1:p.Lys286Arg, NP_001340208.1:p.Lys140Arg, NP_001340233.1:p.Lys286Arg, NP_001340175.1:p.Lys286Arg, NP_001340232.1:p.Lys286Arg, NP_001340199.1:p.Lys140Arg, NP_001340207.1:p.Lys140Arg, NP_001340210.1:p.Lys140Arg, NP_001340237.1:p.Lys286Arg, NP_001340178.1:p.Lys286Arg, XP_047277811.1:p.Lys337Arg, NP_001340203.1:p.Lys140Arg, NP_001340234.1:p.Lys286Arg, NP_001340181.1:p.Lys286Arg, NP_001340209.1:p.Lys140Arg, NP_001340200.1:p.Lys140Arg, NP_001340202.1:p.Lys140Arg, NP_001340206.1:p.Lys140Arg, XP_047277815.1:p.Lys286Arg, XP_047277813.1:p.Lys286Arg, NP_001340198.1:p.Lys140Arg

                    10.

                    rs1421926233 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      8:129846809 (GRCh38)
                      8:130859055 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:129846808:A:G
                      Gene:
                      CYRIB (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000008.11:g.129846809A>G, NC_000008.10:g.130859055A>G, NM_016623.5:c.906T>C, NM_016623.4:c.906T>C, XM_011517121.4:c.1248T>C, XM_011517121.3:c.906T>C, XM_011517121.2:c.906T>C, XM_011517121.1:c.906T>C, NM_001353244.2:c.906T>C, NM_001353244.1:c.906T>C, NM_001353259.2:c.906T>C, NM_001353259.1:c.906T>C, NM_001353315.2:c.906T>C, NM_001353315.1:c.906T>C, NM_001353242.2:c.906T>C, NM_001353242.1:c.906T>C, NM_001353243.2:c.906T>C, NM_001353243.1:c.906T>C, NM_001353254.2:c.906T>C, NM_001353254.1:c.906T>C, NM_001353296.2:c.468T>C, NM_001353296.1:c.468T>C, XM_024447180.2:c.906T>C, XM_024447180.1:c.906T>C, NM_001353267.2:c.906T>C, NM_001353267.1:c.906T>C, NM_001353300.2:c.468T>C, NM_001353300.1:c.468T>C, NM_001353312.2:c.906T>C, NM_001353312.1:c.906T>C, NM_001353261.2:c.906T>C, NM_001353261.1:c.906T>C, NM_001353268.2:c.906T>C, NM_001353268.1:c.906T>C, NM_001353287.2:c.468T>C, NM_001353287.1:c.468T>C, NM_001353311.2:c.906T>C, NM_001353311.1:c.906T>C, NM_001353307.2:c.906T>C, NM_001353307.1:c.906T>C, NM_001353258.2:c.906T>C, NM_001353258.1:c.906T>C, NM_001353248.2:c.906T>C, NM_001353248.1:c.906T>C, NM_001353264.2:c.906T>C, NM_001353264.1:c.906T>C, NM_001353289.2:c.468T>C, NM_001353289.1:c.468T>C, NM_001353314.2:c.906T>C, NM_001353314.1:c.906T>C, NM_001256763.2:c.906T>C, NM_001256763.1:c.906T>C, NM_001353256.2:c.906T>C, NM_001353256.1:c.906T>C, NM_001353265.2:c.906T>C, NM_001353265.1:c.906T>C, NM_001353310.2:c.906T>C, NM_001353310.1:c.906T>C, NM_001353262.2:c.906T>C, NM_001353262.1:c.906T>C, NM_001353316.2:c.882T>C, NM_001353316.1:c.882T>C, NM_001353290.2:c.468T>C, NM_001353290.1:c.468T>C, NM_001353285.2:c.468T>C, NM_001353285.1:c.468T>C, NM_001353306.2:c.906T>C, NM_001353306.1:c.906T>C, NM_001353260.2:c.906T>C, NM_001353260.1:c.906T>C, NM_001353294.2:c.468T>C, NM_001353294.1:c.468T>C, NM_001353298.2:c.468T>C, NM_001353298.1:c.468T>C, NM_001353284.2:c.468T>C, NM_001353284.1:c.468T>C, NM_001353257.2:c.906T>C, NM_001353257.1:c.906T>C, NM_001353313.2:c.906T>C, NM_001353313.1:c.906T>C, NM_001353292.2:c.468T>C, NM_001353292.1:c.468T>C, NM_001353291.2:c.468T>C, NM_001353291.1:c.468T>C, NM_001353263.2:c.906T>C, NM_001353263.1:c.906T>C, NM_001353299.2:c.468T>C, NM_001353299.1:c.468T>C, NM_001353295.2:c.468T>C, NM_001353295.1:c.468T>C, NM_001353266.2:c.906T>C, NM_001353266.1:c.906T>C, NM_001353276.2:c.468T>C, NM_001353276.1:c.468T>C, NM_001353286.2:c.468T>C, NM_001353286.1:c.468T>C, NM_001353288.2:c.468T>C, NM_001353288.1:c.468T>C, NM_001353283.2:c.468T>C, NM_001353283.1:c.468T>C, NM_001330612.2:c.468T>C, NM_001330612.1:c.468T>C, NM_001353293.2:c.468T>C, NM_001353293.1:c.468T>C, NM_001353301.2:c.468T>C, NM_001353301.1:c.468T>C, NM_001353282.2:c.468T>C, NM_001353282.1:c.468T>C, NM_001353297.2:c.468T>C, NM_001353297.1:c.468T>C, NR_046359.1:n.1573T>C, NR_046360.1:n.1483T>C, NR_046361.1:n.1473T>C, NM_001353251.1:c.906T>C, XM_047421856.1:c.906T>C, NM_001353309.1:c.906T>C, NM_001353255.1:c.906T>C, NM_001353253.1:c.906T>C, NM_001353275.1:c.468T>C, NM_001353247.1:c.906T>C, NM_001353245.1:c.906T>C, NM_001353272.1:c.468T>C, NM_001353302.1:c.906T>C, NM_001353250.1:c.906T>C, NM_001353279.1:c.468T>C, NM_001353304.1:c.906T>C, NM_001353246.1:c.906T>C, NM_001353303.1:c.906T>C, NM_001353270.1:c.468T>C, NM_001353278.1:c.468T>C, NM_001353281.1:c.468T>C, NM_001353308.1:c.906T>C, NM_001353249.1:c.906T>C, XM_047421855.1:c.1059T>C, NM_001353274.1:c.468T>C, NM_001353305.1:c.906T>C, NM_001353252.1:c.906T>C, NM_001353280.1:c.468T>C, NM_001353271.1:c.468T>C, NM_001353273.1:c.468T>C, NM_001353277.1:c.468T>C, XM_047421859.1:c.906T>C, XM_047421857.1:c.906T>C, NM_001353269.1:c.468T>C

                      11.

                      rs1409857931 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        8:129850863 (GRCh38)
                        8:130863109 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:129850862:T:C
                        Gene:
                        CYRIB (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000066/1 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        C=0.000223/1 (Estonian)
                        HGVS:
                        NC_000008.11:g.129850863T>C, NC_000008.10:g.130863109T>C, NM_016623.5:c.685A>G, NM_016623.4:c.685A>G, XM_011517121.4:c.1027A>G, XM_011517121.3:c.685A>G, XM_011517121.2:c.685A>G, XM_011517121.1:c.685A>G, NM_001353244.2:c.685A>G, NM_001353244.1:c.685A>G, NM_001353259.2:c.685A>G, NM_001353259.1:c.685A>G, NM_001353315.2:c.685A>G, NM_001353315.1:c.685A>G, NM_001353242.2:c.685A>G, NM_001353242.1:c.685A>G, NM_001353243.2:c.685A>G, NM_001353243.1:c.685A>G, NM_001353254.2:c.685A>G, NM_001353254.1:c.685A>G, NM_001353296.2:c.247A>G, NM_001353296.1:c.247A>G, XM_024447180.2:c.685A>G, XM_024447180.1:c.685A>G, NM_001353267.2:c.685A>G, NM_001353267.1:c.685A>G, NM_001353300.2:c.247A>G, NM_001353300.1:c.247A>G, NM_001353312.2:c.685A>G, NM_001353312.1:c.685A>G, NM_001353261.2:c.685A>G, NM_001353261.1:c.685A>G, NM_001353268.2:c.685A>G, NM_001353268.1:c.685A>G, NM_001353287.2:c.247A>G, NM_001353287.1:c.247A>G, NM_001353311.2:c.685A>G, NM_001353311.1:c.685A>G, NM_001353307.2:c.685A>G, NM_001353307.1:c.685A>G, NM_001353258.2:c.685A>G, NM_001353258.1:c.685A>G, NM_001353248.2:c.685A>G, NM_001353248.1:c.685A>G, NM_001353264.2:c.685A>G, NM_001353264.1:c.685A>G, NM_001353289.2:c.247A>G, NM_001353289.1:c.247A>G, NM_001353314.2:c.685A>G, NM_001353314.1:c.685A>G, NM_001256763.2:c.685A>G, NM_001256763.1:c.685A>G, NM_001353256.2:c.685A>G, NM_001353256.1:c.685A>G, NM_001353265.2:c.685A>G, NM_001353265.1:c.685A>G, NM_001353310.2:c.685A>G, NM_001353310.1:c.685A>G, NM_001353262.2:c.685A>G, NM_001353262.1:c.685A>G, NM_001353316.2:c.661A>G, NM_001353316.1:c.661A>G, NM_001353290.2:c.247A>G, NM_001353290.1:c.247A>G, NM_001353285.2:c.247A>G, NM_001353285.1:c.247A>G, NM_001353306.2:c.685A>G, NM_001353306.1:c.685A>G, NM_001353260.2:c.685A>G, NM_001353260.1:c.685A>G, NM_001353294.2:c.247A>G, NM_001353294.1:c.247A>G, NM_001353298.2:c.247A>G, NM_001353298.1:c.247A>G, NM_001353284.2:c.247A>G, NM_001353284.1:c.247A>G, NM_001353257.2:c.685A>G, NM_001353257.1:c.685A>G, NM_001353313.2:c.685A>G, NM_001353313.1:c.685A>G, NM_001353292.2:c.247A>G, NM_001353292.1:c.247A>G, NM_001353291.2:c.247A>G, NM_001353291.1:c.247A>G, NM_001353263.2:c.685A>G, NM_001353263.1:c.685A>G, NM_001353299.2:c.247A>G, NM_001353299.1:c.247A>G, NM_001353295.2:c.247A>G, NM_001353295.1:c.247A>G, NM_001353266.2:c.685A>G, NM_001353266.1:c.685A>G, NM_001353276.2:c.247A>G, NM_001353276.1:c.247A>G, NM_001353286.2:c.247A>G, NM_001353286.1:c.247A>G, NM_001353288.2:c.247A>G, NM_001353288.1:c.247A>G, NM_001353283.2:c.247A>G, NM_001353283.1:c.247A>G, NM_001330612.2:c.247A>G, NM_001330612.1:c.247A>G, NM_001353293.2:c.247A>G, NM_001353293.1:c.247A>G, NM_001353301.2:c.247A>G, NM_001353301.1:c.247A>G, NM_001353282.2:c.247A>G, NM_001353282.1:c.247A>G, NM_001353297.2:c.247A>G, NM_001353297.1:c.247A>G, NR_046359.1:n.1352A>G, NR_046360.1:n.1262A>G, NR_046361.1:n.1252A>G, NM_001353251.1:c.685A>G, XM_047421856.1:c.685A>G, NM_001353309.1:c.685A>G, NM_001353255.1:c.685A>G, NM_001353253.1:c.685A>G, NM_001353275.1:c.247A>G, NM_001353247.1:c.685A>G, NM_001353245.1:c.685A>G, NM_001353272.1:c.247A>G, NM_001353302.1:c.685A>G, NM_001353250.1:c.685A>G, NM_001353279.1:c.247A>G, NM_001353304.1:c.685A>G, NM_001353246.1:c.685A>G, NM_001353303.1:c.685A>G, NM_001353270.1:c.247A>G, NM_001353278.1:c.247A>G, NM_001353281.1:c.247A>G, NM_001353308.1:c.685A>G, NM_001353249.1:c.685A>G, XM_047421855.1:c.838A>G, NM_001353274.1:c.247A>G, NM_001353305.1:c.685A>G, NM_001353252.1:c.685A>G, NM_001353280.1:c.247A>G, NM_001353271.1:c.247A>G, NM_001353273.1:c.247A>G, NM_001353277.1:c.247A>G, XM_047421859.1:c.685A>G, XM_047421857.1:c.685A>G, NM_001353269.1:c.247A>G, NP_057707.3:p.Ser229Gly, XP_011515423.2:p.Ser343Gly, NP_001340173.1:p.Ser229Gly, NP_001340188.1:p.Ser229Gly, NP_001340244.1:p.Ser229Gly, NP_001340171.1:p.Ser229Gly, NP_001340172.1:p.Ser229Gly, NP_001340183.1:p.Ser229Gly, NP_001340225.1:p.Ser83Gly, XP_024302948.1:p.Ser229Gly, NP_001340196.1:p.Ser229Gly, NP_001340229.1:p.Ser83Gly, NP_001340241.1:p.Ser229Gly, NP_001340190.1:p.Ser229Gly, NP_001340197.1:p.Ser229Gly, NP_001340216.1:p.Ser83Gly, NP_001340240.1:p.Ser229Gly, NP_001340236.1:p.Ser229Gly, NP_001340187.1:p.Ser229Gly, NP_001340177.1:p.Ser229Gly, NP_001340193.1:p.Ser229Gly, NP_001340218.1:p.Ser83Gly, NP_001340243.1:p.Ser229Gly, NP_001243692.1:p.Ser229Gly, NP_001340185.1:p.Ser229Gly, NP_001340194.1:p.Ser229Gly, NP_001340239.1:p.Ser229Gly, NP_001340191.1:p.Ser229Gly, NP_001340245.1:p.Ser221Gly, NP_001340219.1:p.Ser83Gly, NP_001340214.1:p.Ser83Gly, NP_001340235.1:p.Ser229Gly, NP_001340189.1:p.Ser229Gly, NP_001340223.1:p.Ser83Gly, NP_001340227.1:p.Ser83Gly, NP_001340213.1:p.Ser83Gly, NP_001340186.1:p.Ser229Gly, NP_001340242.1:p.Ser229Gly, NP_001340221.1:p.Ser83Gly, NP_001340220.1:p.Ser83Gly, NP_001340192.1:p.Ser229Gly, NP_001340228.1:p.Ser83Gly, NP_001340224.1:p.Ser83Gly, NP_001340195.1:p.Ser229Gly, NP_001340205.1:p.Ser83Gly, NP_001340215.1:p.Ser83Gly, NP_001340217.1:p.Ser83Gly, NP_001340212.1:p.Ser83Gly, NP_001317541.1:p.Ser83Gly, NP_001340222.1:p.Ser83Gly, NP_001340230.1:p.Ser83Gly, NP_001340211.1:p.Ser83Gly, NP_001340226.1:p.Ser83Gly, NP_001340180.1:p.Ser229Gly, XP_047277812.1:p.Ser229Gly, NP_001340238.1:p.Ser229Gly, NP_001340184.1:p.Ser229Gly, NP_001340182.1:p.Ser229Gly, NP_001340204.1:p.Ser83Gly, NP_001340176.1:p.Ser229Gly, NP_001340174.1:p.Ser229Gly, NP_001340201.1:p.Ser83Gly, NP_001340231.1:p.Ser229Gly, NP_001340179.1:p.Ser229Gly, NP_001340208.1:p.Ser83Gly, NP_001340233.1:p.Ser229Gly, NP_001340175.1:p.Ser229Gly, NP_001340232.1:p.Ser229Gly, NP_001340199.1:p.Ser83Gly, NP_001340207.1:p.Ser83Gly, NP_001340210.1:p.Ser83Gly, NP_001340237.1:p.Ser229Gly, NP_001340178.1:p.Ser229Gly, XP_047277811.1:p.Ser280Gly, NP_001340203.1:p.Ser83Gly, NP_001340234.1:p.Ser229Gly, NP_001340181.1:p.Ser229Gly, NP_001340209.1:p.Ser83Gly, NP_001340200.1:p.Ser83Gly, NP_001340202.1:p.Ser83Gly, NP_001340206.1:p.Ser83Gly, XP_047277815.1:p.Ser229Gly, XP_047277813.1:p.Ser229Gly, NP_001340198.1:p.Ser83Gly

                        12.

                        rs1405570288 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          8:129846839 (GRCh38)
                          8:130859085 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:129846838:A:G
                          Gene:
                          CYRIB (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          HGVS:
                          NC_000008.11:g.129846839A>G, NC_000008.10:g.130859085A>G, NM_016623.5:c.876T>C, NM_016623.4:c.876T>C, XM_011517121.4:c.1218T>C, XM_011517121.3:c.876T>C, XM_011517121.2:c.876T>C, XM_011517121.1:c.876T>C, NM_001353244.2:c.876T>C, NM_001353244.1:c.876T>C, NM_001353259.2:c.876T>C, NM_001353259.1:c.876T>C, NM_001353315.2:c.876T>C, NM_001353315.1:c.876T>C, NM_001353242.2:c.876T>C, NM_001353242.1:c.876T>C, NM_001353243.2:c.876T>C, NM_001353243.1:c.876T>C, NM_001353254.2:c.876T>C, NM_001353254.1:c.876T>C, NM_001353296.2:c.438T>C, NM_001353296.1:c.438T>C, XM_024447180.2:c.876T>C, XM_024447180.1:c.876T>C, NM_001353267.2:c.876T>C, NM_001353267.1:c.876T>C, NM_001353300.2:c.438T>C, NM_001353300.1:c.438T>C, NM_001353312.2:c.876T>C, NM_001353312.1:c.876T>C, NM_001353261.2:c.876T>C, NM_001353261.1:c.876T>C, NM_001353268.2:c.876T>C, NM_001353268.1:c.876T>C, NM_001353287.2:c.438T>C, NM_001353287.1:c.438T>C, NM_001353311.2:c.876T>C, NM_001353311.1:c.876T>C, NM_001353307.2:c.876T>C, NM_001353307.1:c.876T>C, NM_001353258.2:c.876T>C, NM_001353258.1:c.876T>C, NM_001353248.2:c.876T>C, NM_001353248.1:c.876T>C, NM_001353264.2:c.876T>C, NM_001353264.1:c.876T>C, NM_001353289.2:c.438T>C, NM_001353289.1:c.438T>C, NM_001353314.2:c.876T>C, NM_001353314.1:c.876T>C, NM_001256763.2:c.876T>C, NM_001256763.1:c.876T>C, NM_001353256.2:c.876T>C, NM_001353256.1:c.876T>C, NM_001353265.2:c.876T>C, NM_001353265.1:c.876T>C, NM_001353310.2:c.876T>C, NM_001353310.1:c.876T>C, NM_001353262.2:c.876T>C, NM_001353262.1:c.876T>C, NM_001353316.2:c.852T>C, NM_001353316.1:c.852T>C, NM_001353290.2:c.438T>C, NM_001353290.1:c.438T>C, NM_001353285.2:c.438T>C, NM_001353285.1:c.438T>C, NM_001353306.2:c.876T>C, NM_001353306.1:c.876T>C, NM_001353260.2:c.876T>C, NM_001353260.1:c.876T>C, NM_001353294.2:c.438T>C, NM_001353294.1:c.438T>C, NM_001353298.2:c.438T>C, NM_001353298.1:c.438T>C, NM_001353284.2:c.438T>C, NM_001353284.1:c.438T>C, NM_001353257.2:c.876T>C, NM_001353257.1:c.876T>C, NM_001353313.2:c.876T>C, NM_001353313.1:c.876T>C, NM_001353292.2:c.438T>C, NM_001353292.1:c.438T>C, NM_001353291.2:c.438T>C, NM_001353291.1:c.438T>C, NM_001353263.2:c.876T>C, NM_001353263.1:c.876T>C, NM_001353299.2:c.438T>C, NM_001353299.1:c.438T>C, NM_001353295.2:c.438T>C, NM_001353295.1:c.438T>C, NM_001353266.2:c.876T>C, NM_001353266.1:c.876T>C, NM_001353276.2:c.438T>C, NM_001353276.1:c.438T>C, NM_001353286.2:c.438T>C, NM_001353286.1:c.438T>C, NM_001353288.2:c.438T>C, NM_001353288.1:c.438T>C, NM_001353283.2:c.438T>C, NM_001353283.1:c.438T>C, NM_001330612.2:c.438T>C, NM_001330612.1:c.438T>C, NM_001353293.2:c.438T>C, NM_001353293.1:c.438T>C, NM_001353301.2:c.438T>C, NM_001353301.1:c.438T>C, NM_001353282.2:c.438T>C, NM_001353282.1:c.438T>C, NM_001353297.2:c.438T>C, NM_001353297.1:c.438T>C, NR_046359.1:n.1543T>C, NR_046360.1:n.1453T>C, NR_046361.1:n.1443T>C, NM_001353251.1:c.876T>C, XM_047421856.1:c.876T>C, NM_001353309.1:c.876T>C, NM_001353255.1:c.876T>C, NM_001353253.1:c.876T>C, NM_001353275.1:c.438T>C, NM_001353247.1:c.876T>C, NM_001353245.1:c.876T>C, NM_001353272.1:c.438T>C, NM_001353302.1:c.876T>C, NM_001353250.1:c.876T>C, NM_001353279.1:c.438T>C, NM_001353304.1:c.876T>C, NM_001353246.1:c.876T>C, NM_001353303.1:c.876T>C, NM_001353270.1:c.438T>C, NM_001353278.1:c.438T>C, NM_001353281.1:c.438T>C, NM_001353308.1:c.876T>C, NM_001353249.1:c.876T>C, XM_047421855.1:c.1029T>C, NM_001353274.1:c.438T>C, NM_001353305.1:c.876T>C, NM_001353252.1:c.876T>C, NM_001353280.1:c.438T>C, NM_001353271.1:c.438T>C, NM_001353273.1:c.438T>C, NM_001353277.1:c.438T>C, XM_047421859.1:c.876T>C, XM_047421857.1:c.876T>C, NM_001353269.1:c.438T>C

                          13.

                          rs1388601985 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            8:129849253 (GRCh38)
                            8:130861499 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:129849252:G:C
                            Gene:
                            CYRIB (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.000071/1 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000008.11:g.129849253G>C, NC_000008.10:g.130861499G>C, NM_016623.5:c.830C>G, NM_016623.4:c.830C>G, XM_011517121.4:c.1172C>G, XM_011517121.3:c.830C>G, XM_011517121.2:c.830C>G, XM_011517121.1:c.830C>G, NM_001353244.2:c.830C>G, NM_001353244.1:c.830C>G, NM_001353259.2:c.830C>G, NM_001353259.1:c.830C>G, NM_001353315.2:c.830C>G, NM_001353315.1:c.830C>G, NM_001353242.2:c.830C>G, NM_001353242.1:c.830C>G, NM_001353243.2:c.830C>G, NM_001353243.1:c.830C>G, NM_001353254.2:c.830C>G, NM_001353254.1:c.830C>G, NM_001353296.2:c.392C>G, NM_001353296.1:c.392C>G, XM_024447180.2:c.830C>G, XM_024447180.1:c.830C>G, NM_001353267.2:c.830C>G, NM_001353267.1:c.830C>G, NM_001353300.2:c.392C>G, NM_001353300.1:c.392C>G, NM_001353312.2:c.830C>G, NM_001353312.1:c.830C>G, NM_001353261.2:c.830C>G, NM_001353261.1:c.830C>G, NM_001353268.2:c.830C>G, NM_001353268.1:c.830C>G, NM_001353287.2:c.392C>G, NM_001353287.1:c.392C>G, NM_001353311.2:c.830C>G, NM_001353311.1:c.830C>G, NM_001353307.2:c.830C>G, NM_001353307.1:c.830C>G, NM_001353258.2:c.830C>G, NM_001353258.1:c.830C>G, NM_001353248.2:c.830C>G, NM_001353248.1:c.830C>G, NM_001353264.2:c.830C>G, NM_001353264.1:c.830C>G, NM_001353289.2:c.392C>G, NM_001353289.1:c.392C>G, NM_001353314.2:c.830C>G, NM_001353314.1:c.830C>G, NM_001256763.2:c.830C>G, NM_001256763.1:c.830C>G, NM_001353256.2:c.830C>G, NM_001353256.1:c.830C>G, NM_001353265.2:c.830C>G, NM_001353265.1:c.830C>G, NM_001353310.2:c.830C>G, NM_001353310.1:c.830C>G, NM_001353262.2:c.830C>G, NM_001353262.1:c.830C>G, NM_001353316.2:c.806C>G, NM_001353316.1:c.806C>G, NM_001353290.2:c.392C>G, NM_001353290.1:c.392C>G, NM_001353285.2:c.392C>G, NM_001353285.1:c.392C>G, NM_001353306.2:c.830C>G, NM_001353306.1:c.830C>G, NM_001353260.2:c.830C>G, NM_001353260.1:c.830C>G, NM_001353294.2:c.392C>G, NM_001353294.1:c.392C>G, NM_001353298.2:c.392C>G, NM_001353298.1:c.392C>G, NM_001353284.2:c.392C>G, NM_001353284.1:c.392C>G, NM_001353257.2:c.830C>G, NM_001353257.1:c.830C>G, NM_001353313.2:c.830C>G, NM_001353313.1:c.830C>G, NM_001353292.2:c.392C>G, NM_001353292.1:c.392C>G, NM_001353291.2:c.392C>G, NM_001353291.1:c.392C>G, NM_001353263.2:c.830C>G, NM_001353263.1:c.830C>G, NM_001353299.2:c.392C>G, NM_001353299.1:c.392C>G, NM_001353295.2:c.392C>G, NM_001353295.1:c.392C>G, NM_001353266.2:c.830C>G, NM_001353266.1:c.830C>G, NM_001353276.2:c.392C>G, NM_001353276.1:c.392C>G, NM_001353286.2:c.392C>G, NM_001353286.1:c.392C>G, NM_001353288.2:c.392C>G, NM_001353288.1:c.392C>G, NM_001353283.2:c.392C>G, NM_001353283.1:c.392C>G, NM_001330612.2:c.392C>G, NM_001330612.1:c.392C>G, NM_001353293.2:c.392C>G, NM_001353293.1:c.392C>G, NM_001353301.2:c.392C>G, NM_001353301.1:c.392C>G, NM_001353282.2:c.392C>G, NM_001353282.1:c.392C>G, NM_001353297.2:c.392C>G, NM_001353297.1:c.392C>G, NR_046359.1:n.1497C>G, NR_046360.1:n.1407C>G, NR_046361.1:n.1397C>G, NM_001353251.1:c.830C>G, XM_047421856.1:c.830C>G, NM_001353309.1:c.830C>G, NM_001353255.1:c.830C>G, NM_001353253.1:c.830C>G, NM_001353275.1:c.392C>G, NM_001353247.1:c.830C>G, NM_001353245.1:c.830C>G, NM_001353272.1:c.392C>G, NM_001353302.1:c.830C>G, NM_001353250.1:c.830C>G, NM_001353279.1:c.392C>G, NM_001353304.1:c.830C>G, NM_001353246.1:c.830C>G, NM_001353303.1:c.830C>G, NM_001353270.1:c.392C>G, NM_001353278.1:c.392C>G, NM_001353281.1:c.392C>G, NM_001353308.1:c.830C>G, NM_001353249.1:c.830C>G, XM_047421855.1:c.983C>G, NM_001353274.1:c.392C>G, NM_001353305.1:c.830C>G, NM_001353252.1:c.830C>G, NM_001353280.1:c.392C>G, NM_001353271.1:c.392C>G, NM_001353273.1:c.392C>G, NM_001353277.1:c.392C>G, XM_047421859.1:c.830C>G, XM_047421857.1:c.830C>G, NM_001353269.1:c.392C>G, NP_057707.3:p.Ser277Cys, XP_011515423.2:p.Ser391Cys, NP_001340173.1:p.Ser277Cys, NP_001340188.1:p.Ser277Cys, NP_001340244.1:p.Ser277Cys, NP_001340171.1:p.Ser277Cys, NP_001340172.1:p.Ser277Cys, NP_001340183.1:p.Ser277Cys, NP_001340225.1:p.Ser131Cys, XP_024302948.1:p.Ser277Cys, NP_001340196.1:p.Ser277Cys, NP_001340229.1:p.Ser131Cys, NP_001340241.1:p.Ser277Cys, NP_001340190.1:p.Ser277Cys, NP_001340197.1:p.Ser277Cys, NP_001340216.1:p.Ser131Cys, NP_001340240.1:p.Ser277Cys, NP_001340236.1:p.Ser277Cys, NP_001340187.1:p.Ser277Cys, NP_001340177.1:p.Ser277Cys, NP_001340193.1:p.Ser277Cys, NP_001340218.1:p.Ser131Cys, NP_001340243.1:p.Ser277Cys, NP_001243692.1:p.Ser277Cys, NP_001340185.1:p.Ser277Cys, NP_001340194.1:p.Ser277Cys, NP_001340239.1:p.Ser277Cys, NP_001340191.1:p.Ser277Cys, NP_001340245.1:p.Ser269Cys, NP_001340219.1:p.Ser131Cys, NP_001340214.1:p.Ser131Cys, NP_001340235.1:p.Ser277Cys, NP_001340189.1:p.Ser277Cys, NP_001340223.1:p.Ser131Cys, NP_001340227.1:p.Ser131Cys, NP_001340213.1:p.Ser131Cys, NP_001340186.1:p.Ser277Cys, NP_001340242.1:p.Ser277Cys, NP_001340221.1:p.Ser131Cys, NP_001340220.1:p.Ser131Cys, NP_001340192.1:p.Ser277Cys, NP_001340228.1:p.Ser131Cys, NP_001340224.1:p.Ser131Cys, NP_001340195.1:p.Ser277Cys, NP_001340205.1:p.Ser131Cys, NP_001340215.1:p.Ser131Cys, NP_001340217.1:p.Ser131Cys, NP_001340212.1:p.Ser131Cys, NP_001317541.1:p.Ser131Cys, NP_001340222.1:p.Ser131Cys, NP_001340230.1:p.Ser131Cys, NP_001340211.1:p.Ser131Cys, NP_001340226.1:p.Ser131Cys, NP_001340180.1:p.Ser277Cys, XP_047277812.1:p.Ser277Cys, NP_001340238.1:p.Ser277Cys, NP_001340184.1:p.Ser277Cys, NP_001340182.1:p.Ser277Cys, NP_001340204.1:p.Ser131Cys, NP_001340176.1:p.Ser277Cys, NP_001340174.1:p.Ser277Cys, NP_001340201.1:p.Ser131Cys, NP_001340231.1:p.Ser277Cys, NP_001340179.1:p.Ser277Cys, NP_001340208.1:p.Ser131Cys, NP_001340233.1:p.Ser277Cys, NP_001340175.1:p.Ser277Cys, NP_001340232.1:p.Ser277Cys, NP_001340199.1:p.Ser131Cys, NP_001340207.1:p.Ser131Cys, NP_001340210.1:p.Ser131Cys, NP_001340237.1:p.Ser277Cys, NP_001340178.1:p.Ser277Cys, XP_047277811.1:p.Ser328Cys, NP_001340203.1:p.Ser131Cys, NP_001340234.1:p.Ser277Cys, NP_001340181.1:p.Ser277Cys, NP_001340209.1:p.Ser131Cys, NP_001340200.1:p.Ser131Cys, NP_001340202.1:p.Ser131Cys, NP_001340206.1:p.Ser131Cys, XP_047277815.1:p.Ser277Cys, XP_047277813.1:p.Ser277Cys, NP_001340198.1:p.Ser131Cys

                            14.

                            rs1381094732 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              8:129852266 (GRCh38)
                              8:130864512 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:129852265: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=0.000005/1 (GnomAD_exomes)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000008.11:g.129852266T>C, NC_000008.10:g.130864512T>C, NM_016623.5:c.529A>G, NM_016623.4:c.529A>G, XM_011517121.4:c.871A>G, XM_011517121.3:c.529A>G, XM_011517121.2:c.529A>G, XM_011517121.1:c.529A>G, NM_001353244.2:c.529A>G, NM_001353244.1:c.529A>G, NM_001353259.2:c.529A>G, NM_001353259.1:c.529A>G, NM_001353315.2:c.529A>G, NM_001353315.1:c.529A>G, NM_001353242.2:c.529A>G, NM_001353242.1:c.529A>G, NM_001353243.2:c.529A>G, NM_001353243.1:c.529A>G, NM_001353254.2:c.529A>G, NM_001353254.1:c.529A>G, NM_001353296.2:c.91A>G, NM_001353296.1:c.91A>G, XM_024447180.2:c.529A>G, XM_024447180.1:c.529A>G, NM_001353267.2:c.529A>G, NM_001353267.1:c.529A>G, NM_001353300.2:c.91A>G, NM_001353300.1:c.91A>G, NM_001353312.2:c.529A>G, NM_001353312.1:c.529A>G, NM_001353261.2:c.529A>G, NM_001353261.1:c.529A>G, NM_001353268.2:c.529A>G, NM_001353268.1:c.529A>G, NM_001353287.2:c.91A>G, NM_001353287.1:c.91A>G, NM_001353311.2:c.529A>G, NM_001353311.1:c.529A>G, NM_001353307.2:c.529A>G, NM_001353307.1:c.529A>G, NM_001353258.2:c.529A>G, NM_001353258.1:c.529A>G, NM_001353248.2:c.529A>G, NM_001353248.1:c.529A>G, NM_001353264.2:c.529A>G, NM_001353264.1:c.529A>G, NM_001353289.2:c.91A>G, NM_001353289.1:c.91A>G, NM_001353314.2:c.529A>G, NM_001353314.1:c.529A>G, NM_001256763.2:c.529A>G, NM_001256763.1:c.529A>G, NM_001353256.2:c.529A>G, NM_001353256.1:c.529A>G, NM_001353265.2:c.529A>G, NM_001353265.1:c.529A>G, NM_001353310.2:c.529A>G, NM_001353310.1:c.529A>G, NM_001353262.2:c.529A>G, NM_001353262.1:c.529A>G, NM_001353316.2:c.505A>G, NM_001353316.1:c.505A>G, NM_001353290.2:c.91A>G, NM_001353290.1:c.91A>G, NM_001353285.2:c.91A>G, NM_001353285.1:c.91A>G, NM_001353306.2:c.529A>G, NM_001353306.1:c.529A>G, NM_001353260.2:c.529A>G, NM_001353260.1:c.529A>G, NM_001353294.2:c.91A>G, NM_001353294.1:c.91A>G, NM_001353298.2:c.91A>G, NM_001353298.1:c.91A>G, NM_001353284.2:c.91A>G, NM_001353284.1:c.91A>G, NM_001353257.2:c.529A>G, NM_001353257.1:c.529A>G, NM_001353313.2:c.529A>G, NM_001353313.1:c.529A>G, NM_001353292.2:c.91A>G, NM_001353292.1:c.91A>G, NM_001353291.2:c.91A>G, NM_001353291.1:c.91A>G, NM_001353263.2:c.529A>G, NM_001353263.1:c.529A>G, NM_001353299.2:c.91A>G, NM_001353299.1:c.91A>G, NM_001353295.2:c.91A>G, NM_001353295.1:c.91A>G, NM_001353266.2:c.529A>G, NM_001353266.1:c.529A>G, NM_001353276.2:c.91A>G, NM_001353276.1:c.91A>G, NM_001353286.2:c.91A>G, NM_001353286.1:c.91A>G, NM_001353288.2:c.91A>G, NM_001353288.1:c.91A>G, NM_001353283.2:c.91A>G, NM_001353283.1:c.91A>G, NM_001330612.2:c.91A>G, NM_001330612.1:c.91A>G, NM_001353293.2:c.91A>G, NM_001353293.1:c.91A>G, NM_001353301.2:c.91A>G, NM_001353301.1:c.91A>G, NM_001353282.2:c.91A>G, NM_001353282.1:c.91A>G, NM_001353297.2:c.91A>G, NM_001353297.1:c.91A>G, NR_046359.1:n.1196A>G, NR_046360.1:n.1106A>G, NR_046361.1:n.1096A>G, NM_001353251.1:c.529A>G, XM_047421856.1:c.529A>G, NM_001353309.1:c.529A>G, NM_001353255.1:c.529A>G, NM_001353253.1:c.529A>G, NM_001353275.1:c.91A>G, NM_001353247.1:c.529A>G, NM_001353245.1:c.529A>G, NM_001353272.1:c.91A>G, NM_001353302.1:c.529A>G, NM_001353250.1:c.529A>G, NM_001353279.1:c.91A>G, NM_001353304.1:c.529A>G, NM_001353246.1:c.529A>G, NM_001353303.1:c.529A>G, NM_001353270.1:c.91A>G, NM_001353278.1:c.91A>G, NM_001353281.1:c.91A>G, NM_001353308.1:c.529A>G, NM_001353249.1:c.529A>G, XM_047421855.1:c.682A>G, NM_001353274.1:c.91A>G, NM_001353305.1:c.529A>G, NM_001353252.1:c.529A>G, NM_001353280.1:c.91A>G, NM_001353271.1:c.91A>G, NM_001353273.1:c.91A>G, NM_001353277.1:c.91A>G, XM_047421859.1:c.529A>G, XM_047421857.1:c.529A>G, NM_001353269.1:c.91A>G, NP_057707.3:p.Asn177Asp, XP_011515423.2:p.Asn291Asp, NP_001340173.1:p.Asn177Asp, NP_001340188.1:p.Asn177Asp, NP_001340244.1:p.Asn177Asp, NP_001340171.1:p.Asn177Asp, NP_001340172.1:p.Asn177Asp, NP_001340183.1:p.Asn177Asp, NP_001340225.1:p.Asn31Asp, XP_024302948.1:p.Asn177Asp, NP_001340196.1:p.Asn177Asp, NP_001340229.1:p.Asn31Asp, NP_001340241.1:p.Asn177Asp, NP_001340190.1:p.Asn177Asp, NP_001340197.1:p.Asn177Asp, NP_001340216.1:p.Asn31Asp, NP_001340240.1:p.Asn177Asp, NP_001340236.1:p.Asn177Asp, NP_001340187.1:p.Asn177Asp, NP_001340177.1:p.Asn177Asp, NP_001340193.1:p.Asn177Asp, NP_001340218.1:p.Asn31Asp, NP_001340243.1:p.Asn177Asp, NP_001243692.1:p.Asn177Asp, NP_001340185.1:p.Asn177Asp, NP_001340194.1:p.Asn177Asp, NP_001340239.1:p.Asn177Asp, NP_001340191.1:p.Asn177Asp, NP_001340245.1:p.Asn169Asp, NP_001340219.1:p.Asn31Asp, NP_001340214.1:p.Asn31Asp, NP_001340235.1:p.Asn177Asp, NP_001340189.1:p.Asn177Asp, NP_001340223.1:p.Asn31Asp, NP_001340227.1:p.Asn31Asp, NP_001340213.1:p.Asn31Asp, NP_001340186.1:p.Asn177Asp, NP_001340242.1:p.Asn177Asp, NP_001340221.1:p.Asn31Asp, NP_001340220.1:p.Asn31Asp, NP_001340192.1:p.Asn177Asp, NP_001340228.1:p.Asn31Asp, NP_001340224.1:p.Asn31Asp, NP_001340195.1:p.Asn177Asp, NP_001340205.1:p.Asn31Asp, NP_001340215.1:p.Asn31Asp, NP_001340217.1:p.Asn31Asp, NP_001340212.1:p.Asn31Asp, NP_001317541.1:p.Asn31Asp, NP_001340222.1:p.Asn31Asp, NP_001340230.1:p.Asn31Asp, NP_001340211.1:p.Asn31Asp, NP_001340226.1:p.Asn31Asp, NP_001340180.1:p.Asn177Asp, XP_047277812.1:p.Asn177Asp, NP_001340238.1:p.Asn177Asp, NP_001340184.1:p.Asn177Asp, NP_001340182.1:p.Asn177Asp, NP_001340204.1:p.Asn31Asp, NP_001340176.1:p.Asn177Asp, NP_001340174.1:p.Asn177Asp, NP_001340201.1:p.Asn31Asp, NP_001340231.1:p.Asn177Asp, NP_001340179.1:p.Asn177Asp, NP_001340208.1:p.Asn31Asp, NP_001340233.1:p.Asn177Asp, NP_001340175.1:p.Asn177Asp, NP_001340232.1:p.Asn177Asp, NP_001340199.1:p.Asn31Asp, NP_001340207.1:p.Asn31Asp, NP_001340210.1:p.Asn31Asp, NP_001340237.1:p.Asn177Asp, NP_001340178.1:p.Asn177Asp, XP_047277811.1:p.Asn228Asp, NP_001340203.1:p.Asn31Asp, NP_001340234.1:p.Asn177Asp, NP_001340181.1:p.Asn177Asp, NP_001340209.1:p.Asn31Asp, NP_001340200.1:p.Asn31Asp, NP_001340202.1:p.Asn31Asp, NP_001340206.1:p.Asn31Asp, XP_047277815.1:p.Asn177Asp, XP_047277813.1:p.Asn177Asp, NP_001340198.1:p.Asn31Asp

                              15.

                              rs1378788868 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                8:129846847 (GRCh38)
                                8:130859093 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:129846846:C:T
                                Gene:
                                CYRIB (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000008.11:g.129846847C>T, NC_000008.10:g.130859093C>T, NM_016623.5:c.868G>A, NM_016623.4:c.868G>A, XM_011517121.4:c.1210G>A, XM_011517121.3:c.868G>A, XM_011517121.2:c.868G>A, XM_011517121.1:c.868G>A, NM_001353244.2:c.868G>A, NM_001353244.1:c.868G>A, NM_001353259.2:c.868G>A, NM_001353259.1:c.868G>A, NM_001353315.2:c.868G>A, NM_001353315.1:c.868G>A, NM_001353242.2:c.868G>A, NM_001353242.1:c.868G>A, NM_001353243.2:c.868G>A, NM_001353243.1:c.868G>A, NM_001353254.2:c.868G>A, NM_001353254.1:c.868G>A, NM_001353296.2:c.430G>A, NM_001353296.1:c.430G>A, XM_024447180.2:c.868G>A, XM_024447180.1:c.868G>A, NM_001353267.2:c.868G>A, NM_001353267.1:c.868G>A, NM_001353300.2:c.430G>A, NM_001353300.1:c.430G>A, NM_001353312.2:c.868G>A, NM_001353312.1:c.868G>A, NM_001353261.2:c.868G>A, NM_001353261.1:c.868G>A, NM_001353268.2:c.868G>A, NM_001353268.1:c.868G>A, NM_001353287.2:c.430G>A, NM_001353287.1:c.430G>A, NM_001353311.2:c.868G>A, NM_001353311.1:c.868G>A, NM_001353307.2:c.868G>A, NM_001353307.1:c.868G>A, NM_001353258.2:c.868G>A, NM_001353258.1:c.868G>A, NM_001353248.2:c.868G>A, NM_001353248.1:c.868G>A, NM_001353264.2:c.868G>A, NM_001353264.1:c.868G>A, NM_001353289.2:c.430G>A, NM_001353289.1:c.430G>A, NM_001353314.2:c.868G>A, NM_001353314.1:c.868G>A, NM_001256763.2:c.868G>A, NM_001256763.1:c.868G>A, NM_001353256.2:c.868G>A, NM_001353256.1:c.868G>A, NM_001353265.2:c.868G>A, NM_001353265.1:c.868G>A, NM_001353310.2:c.868G>A, NM_001353310.1:c.868G>A, NM_001353262.2:c.868G>A, NM_001353262.1:c.868G>A, NM_001353316.2:c.844G>A, NM_001353316.1:c.844G>A, NM_001353290.2:c.430G>A, NM_001353290.1:c.430G>A, NM_001353285.2:c.430G>A, NM_001353285.1:c.430G>A, NM_001353306.2:c.868G>A, NM_001353306.1:c.868G>A, NM_001353260.2:c.868G>A, NM_001353260.1:c.868G>A, NM_001353294.2:c.430G>A, NM_001353294.1:c.430G>A, NM_001353298.2:c.430G>A, NM_001353298.1:c.430G>A, NM_001353284.2:c.430G>A, NM_001353284.1:c.430G>A, NM_001353257.2:c.868G>A, NM_001353257.1:c.868G>A, NM_001353313.2:c.868G>A, NM_001353313.1:c.868G>A, NM_001353292.2:c.430G>A, NM_001353292.1:c.430G>A, NM_001353291.2:c.430G>A, NM_001353291.1:c.430G>A, NM_001353263.2:c.868G>A, NM_001353263.1:c.868G>A, NM_001353299.2:c.430G>A, NM_001353299.1:c.430G>A, NM_001353295.2:c.430G>A, NM_001353295.1:c.430G>A, NM_001353266.2:c.868G>A, NM_001353266.1:c.868G>A, NM_001353276.2:c.430G>A, NM_001353276.1:c.430G>A, NM_001353286.2:c.430G>A, NM_001353286.1:c.430G>A, NM_001353288.2:c.430G>A, NM_001353288.1:c.430G>A, NM_001353283.2:c.430G>A, NM_001353283.1:c.430G>A, NM_001330612.2:c.430G>A, NM_001330612.1:c.430G>A, NM_001353293.2:c.430G>A, NM_001353293.1:c.430G>A, NM_001353301.2:c.430G>A, NM_001353301.1:c.430G>A, NM_001353282.2:c.430G>A, NM_001353282.1:c.430G>A, NM_001353297.2:c.430G>A, NM_001353297.1:c.430G>A, NR_046359.1:n.1535G>A, NR_046360.1:n.1445G>A, NR_046361.1:n.1435G>A, NM_001353251.1:c.868G>A, XM_047421856.1:c.868G>A, NM_001353309.1:c.868G>A, NM_001353255.1:c.868G>A, NM_001353253.1:c.868G>A, NM_001353275.1:c.430G>A, NM_001353247.1:c.868G>A, NM_001353245.1:c.868G>A, NM_001353272.1:c.430G>A, NM_001353302.1:c.868G>A, NM_001353250.1:c.868G>A, NM_001353279.1:c.430G>A, NM_001353304.1:c.868G>A, NM_001353246.1:c.868G>A, NM_001353303.1:c.868G>A, NM_001353270.1:c.430G>A, NM_001353278.1:c.430G>A, NM_001353281.1:c.430G>A, NM_001353308.1:c.868G>A, NM_001353249.1:c.868G>A, XM_047421855.1:c.1021G>A, NM_001353274.1:c.430G>A, NM_001353305.1:c.868G>A, NM_001353252.1:c.868G>A, NM_001353280.1:c.430G>A, NM_001353271.1:c.430G>A, NM_001353273.1:c.430G>A, NM_001353277.1:c.430G>A, XM_047421859.1:c.868G>A, XM_047421857.1:c.868G>A, NM_001353269.1:c.430G>A, NP_057707.3:p.Asp290Asn, XP_011515423.2:p.Asp404Asn, NP_001340173.1:p.Asp290Asn, NP_001340188.1:p.Asp290Asn, NP_001340244.1:p.Asp290Asn, NP_001340171.1:p.Asp290Asn, NP_001340172.1:p.Asp290Asn, NP_001340183.1:p.Asp290Asn, NP_001340225.1:p.Asp144Asn, XP_024302948.1:p.Asp290Asn, NP_001340196.1:p.Asp290Asn, NP_001340229.1:p.Asp144Asn, NP_001340241.1:p.Asp290Asn, NP_001340190.1:p.Asp290Asn, NP_001340197.1:p.Asp290Asn, NP_001340216.1:p.Asp144Asn, NP_001340240.1:p.Asp290Asn, NP_001340236.1:p.Asp290Asn, NP_001340187.1:p.Asp290Asn, NP_001340177.1:p.Asp290Asn, NP_001340193.1:p.Asp290Asn, NP_001340218.1:p.Asp144Asn, NP_001340243.1:p.Asp290Asn, NP_001243692.1:p.Asp290Asn, NP_001340185.1:p.Asp290Asn, NP_001340194.1:p.Asp290Asn, NP_001340239.1:p.Asp290Asn, NP_001340191.1:p.Asp290Asn, NP_001340245.1:p.Asp282Asn, NP_001340219.1:p.Asp144Asn, NP_001340214.1:p.Asp144Asn, NP_001340235.1:p.Asp290Asn, NP_001340189.1:p.Asp290Asn, NP_001340223.1:p.Asp144Asn, NP_001340227.1:p.Asp144Asn, NP_001340213.1:p.Asp144Asn, NP_001340186.1:p.Asp290Asn, NP_001340242.1:p.Asp290Asn, NP_001340221.1:p.Asp144Asn, NP_001340220.1:p.Asp144Asn, NP_001340192.1:p.Asp290Asn, NP_001340228.1:p.Asp144Asn, NP_001340224.1:p.Asp144Asn, NP_001340195.1:p.Asp290Asn, NP_001340205.1:p.Asp144Asn, NP_001340215.1:p.Asp144Asn, NP_001340217.1:p.Asp144Asn, NP_001340212.1:p.Asp144Asn, NP_001317541.1:p.Asp144Asn, NP_001340222.1:p.Asp144Asn, NP_001340230.1:p.Asp144Asn, NP_001340211.1:p.Asp144Asn, NP_001340226.1:p.Asp144Asn, NP_001340180.1:p.Asp290Asn, XP_047277812.1:p.Asp290Asn, NP_001340238.1:p.Asp290Asn, NP_001340184.1:p.Asp290Asn, NP_001340182.1:p.Asp290Asn, NP_001340204.1:p.Asp144Asn, NP_001340176.1:p.Asp290Asn, NP_001340174.1:p.Asp290Asn, NP_001340201.1:p.Asp144Asn, NP_001340231.1:p.Asp290Asn, NP_001340179.1:p.Asp290Asn, NP_001340208.1:p.Asp144Asn, NP_001340233.1:p.Asp290Asn, NP_001340175.1:p.Asp290Asn, NP_001340232.1:p.Asp290Asn, NP_001340199.1:p.Asp144Asn, NP_001340207.1:p.Asp144Asn, NP_001340210.1:p.Asp144Asn, NP_001340237.1:p.Asp290Asn, NP_001340178.1:p.Asp290Asn, XP_047277811.1:p.Asp341Asn, NP_001340203.1:p.Asp144Asn, NP_001340234.1:p.Asp290Asn, NP_001340181.1:p.Asp290Asn, NP_001340209.1:p.Asp144Asn, NP_001340200.1:p.Asp144Asn, NP_001340202.1:p.Asp144Asn, NP_001340206.1:p.Asp144Asn, XP_047277815.1:p.Asp290Asn, XP_047277813.1:p.Asp290Asn, NP_001340198.1:p.Asp144Asn

                                16.

                                rs1377677107 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  8:129854339 (GRCh38)
                                  8:130866585 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:129854338:G:A
                                  Gene:
                                  CYRIB (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000008.11:g.129854339G>A, NC_000008.10:g.130866585G>A, NM_016623.5:c.443C>T, NM_016623.4:c.443C>T, XM_011517121.4:c.785C>T, XM_011517121.3:c.443C>T, XM_011517121.2:c.443C>T, XM_011517121.1:c.443C>T, NM_001353244.2:c.443C>T, NM_001353244.1:c.443C>T, NM_001353259.2:c.443C>T, NM_001353259.1:c.443C>T, NM_001353315.2:c.443C>T, NM_001353315.1:c.443C>T, NM_001353242.2:c.443C>T, NM_001353242.1:c.443C>T, NM_001353243.2:c.443C>T, NM_001353243.1:c.443C>T, NM_001353254.2:c.443C>T, NM_001353254.1:c.443C>T, NM_001353296.2:c.5C>T, NM_001353296.1:c.5C>T, XM_024447180.2:c.443C>T, XM_024447180.1:c.443C>T, NM_001353267.2:c.443C>T, NM_001353267.1:c.443C>T, NM_001353300.2:c.5C>T, NM_001353300.1:c.5C>T, NM_001353312.2:c.443C>T, NM_001353312.1:c.443C>T, NM_001353261.2:c.443C>T, NM_001353261.1:c.443C>T, NM_001353268.2:c.443C>T, NM_001353268.1:c.443C>T, NM_001353287.2:c.5C>T, NM_001353287.1:c.5C>T, NM_001353311.2:c.443C>T, NM_001353311.1:c.443C>T, NM_001353307.2:c.443C>T, NM_001353307.1:c.443C>T, NM_001353258.2:c.443C>T, NM_001353258.1:c.443C>T, NM_001353248.2:c.443C>T, NM_001353248.1:c.443C>T, NM_001353264.2:c.443C>T, NM_001353264.1:c.443C>T, NM_001353289.2:c.5C>T, NM_001353289.1:c.5C>T, NM_001353314.2:c.443C>T, NM_001353314.1:c.443C>T, NM_001256763.2:c.443C>T, NM_001256763.1:c.443C>T, NM_001353256.2:c.443C>T, NM_001353256.1:c.443C>T, NM_001353265.2:c.443C>T, NM_001353265.1:c.443C>T, NM_001353310.2:c.443C>T, NM_001353310.1:c.443C>T, NM_001353262.2:c.443C>T, NM_001353262.1:c.443C>T, NM_001353316.2:c.419C>T, NM_001353316.1:c.419C>T, NM_001353290.2:c.5C>T, NM_001353290.1:c.5C>T, NM_001353285.2:c.5C>T, NM_001353285.1:c.5C>T, NM_001353306.2:c.443C>T, NM_001353306.1:c.443C>T, NM_001353260.2:c.443C>T, NM_001353260.1:c.443C>T, NM_001353294.2:c.5C>T, NM_001353294.1:c.5C>T, NM_001353298.2:c.5C>T, NM_001353298.1:c.5C>T, NM_001353284.2:c.5C>T, NM_001353284.1:c.5C>T, NM_001353257.2:c.443C>T, NM_001353257.1:c.443C>T, NM_001353313.2:c.443C>T, NM_001353313.1:c.443C>T, NM_001353292.2:c.5C>T, NM_001353292.1:c.5C>T, NM_001353291.2:c.5C>T, NM_001353291.1:c.5C>T, NM_001353263.2:c.443C>T, NM_001353263.1:c.443C>T, NM_001353299.2:c.5C>T, NM_001353299.1:c.5C>T, NM_001353295.2:c.5C>T, NM_001353295.1:c.5C>T, NM_001353266.2:c.443C>T, NM_001353266.1:c.443C>T, NM_001353276.2:c.5C>T, NM_001353276.1:c.5C>T, NM_001353286.2:c.5C>T, NM_001353286.1:c.5C>T, NM_001353288.2:c.5C>T, NM_001353288.1:c.5C>T, NM_001353283.2:c.5C>T, NM_001353283.1:c.5C>T, NM_001330612.2:c.5C>T, NM_001330612.1:c.5C>T, NM_001353293.2:c.5C>T, NM_001353293.1:c.5C>T, NM_001353301.2:c.5C>T, NM_001353301.1:c.5C>T, NM_001353282.2:c.5C>T, NM_001353282.1:c.5C>T, NM_001353297.2:c.5C>T, NM_001353297.1:c.5C>T, NR_046359.1:n.1110C>T, NR_046360.1:n.1020C>T, NR_046361.1:n.1010C>T, NM_001353251.1:c.443C>T, XM_047421856.1:c.443C>T, NM_001353309.1:c.443C>T, NM_001353255.1:c.443C>T, NM_001353253.1:c.443C>T, NM_001353275.1:c.5C>T, NM_001353247.1:c.443C>T, NM_001353245.1:c.443C>T, NM_001353272.1:c.5C>T, NM_001353302.1:c.443C>T, NM_001353250.1:c.443C>T, NM_001353279.1:c.5C>T, NM_001353304.1:c.443C>T, NM_001353246.1:c.443C>T, NM_001353303.1:c.443C>T, NM_001353270.1:c.5C>T, NM_001353278.1:c.5C>T, NM_001353281.1:c.5C>T, NM_001353308.1:c.443C>T, NM_001353249.1:c.443C>T, XM_047421855.1:c.596C>T, NM_001353274.1:c.5C>T, NM_001353305.1:c.443C>T, NM_001353252.1:c.443C>T, NM_001353280.1:c.5C>T, NM_001353271.1:c.5C>T, NM_001353273.1:c.5C>T, NM_001353277.1:c.5C>T, XM_047421859.1:c.443C>T, XM_047421857.1:c.443C>T, NM_001353269.1:c.5C>T, NP_057707.3:p.Thr148Ile, XP_011515423.2:p.Thr262Ile, NP_001340173.1:p.Thr148Ile, NP_001340188.1:p.Thr148Ile, NP_001340244.1:p.Thr148Ile, NP_001340171.1:p.Thr148Ile, NP_001340172.1:p.Thr148Ile, NP_001340183.1:p.Thr148Ile, NP_001340225.1:p.Thr2Ile, XP_024302948.1:p.Thr148Ile, NP_001340196.1:p.Thr148Ile, NP_001340229.1:p.Thr2Ile, NP_001340241.1:p.Thr148Ile, NP_001340190.1:p.Thr148Ile, NP_001340197.1:p.Thr148Ile, NP_001340216.1:p.Thr2Ile, NP_001340240.1:p.Thr148Ile, NP_001340236.1:p.Thr148Ile, NP_001340187.1:p.Thr148Ile, NP_001340177.1:p.Thr148Ile, NP_001340193.1:p.Thr148Ile, NP_001340218.1:p.Thr2Ile, NP_001340243.1:p.Thr148Ile, NP_001243692.1:p.Thr148Ile, NP_001340185.1:p.Thr148Ile, NP_001340194.1:p.Thr148Ile, NP_001340239.1:p.Thr148Ile, NP_001340191.1:p.Thr148Ile, NP_001340245.1:p.Thr140Ile, NP_001340219.1:p.Thr2Ile, NP_001340214.1:p.Thr2Ile, NP_001340235.1:p.Thr148Ile, NP_001340189.1:p.Thr148Ile, NP_001340223.1:p.Thr2Ile, NP_001340227.1:p.Thr2Ile, NP_001340213.1:p.Thr2Ile, NP_001340186.1:p.Thr148Ile, NP_001340242.1:p.Thr148Ile, NP_001340221.1:p.Thr2Ile, NP_001340220.1:p.Thr2Ile, NP_001340192.1:p.Thr148Ile, NP_001340228.1:p.Thr2Ile, NP_001340224.1:p.Thr2Ile, NP_001340195.1:p.Thr148Ile, NP_001340205.1:p.Thr2Ile, NP_001340215.1:p.Thr2Ile, NP_001340217.1:p.Thr2Ile, NP_001340212.1:p.Thr2Ile, NP_001317541.1:p.Thr2Ile, NP_001340222.1:p.Thr2Ile, NP_001340230.1:p.Thr2Ile, NP_001340211.1:p.Thr2Ile, NP_001340226.1:p.Thr2Ile, NP_001340180.1:p.Thr148Ile, XP_047277812.1:p.Thr148Ile, NP_001340238.1:p.Thr148Ile, NP_001340184.1:p.Thr148Ile, NP_001340182.1:p.Thr148Ile, NP_001340204.1:p.Thr2Ile, NP_001340176.1:p.Thr148Ile, NP_001340174.1:p.Thr148Ile, NP_001340201.1:p.Thr2Ile, NP_001340231.1:p.Thr148Ile, NP_001340179.1:p.Thr148Ile, NP_001340208.1:p.Thr2Ile, NP_001340233.1:p.Thr148Ile, NP_001340175.1:p.Thr148Ile, NP_001340232.1:p.Thr148Ile, NP_001340199.1:p.Thr2Ile, NP_001340207.1:p.Thr2Ile, NP_001340210.1:p.Thr2Ile, NP_001340237.1:p.Thr148Ile, NP_001340178.1:p.Thr148Ile, XP_047277811.1:p.Thr199Ile, NP_001340203.1:p.Thr2Ile, NP_001340234.1:p.Thr148Ile, NP_001340181.1:p.Thr148Ile, NP_001340209.1:p.Thr2Ile, NP_001340200.1:p.Thr2Ile, NP_001340202.1:p.Thr2Ile, NP_001340206.1:p.Thr2Ile, XP_047277815.1:p.Thr148Ile, XP_047277813.1:p.Thr148Ile, NP_001340198.1:p.Thr2Ile

                                  17.

                                  rs1371565250 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    8:129849363 (GRCh38)
                                    8:130861609 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:129849362:G:A
                                    Gene:
                                    CYRIB (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    HGVS:
                                    NC_000008.11:g.129849363G>A, NC_000008.10:g.130861609G>A, NM_016623.5:c.720C>T, NM_016623.4:c.720C>T, XM_011517121.4:c.1062C>T, XM_011517121.3:c.720C>T, XM_011517121.2:c.720C>T, XM_011517121.1:c.720C>T, NM_001353244.2:c.720C>T, NM_001353244.1:c.720C>T, NM_001353259.2:c.720C>T, NM_001353259.1:c.720C>T, NM_001353315.2:c.720C>T, NM_001353315.1:c.720C>T, NM_001353242.2:c.720C>T, NM_001353242.1:c.720C>T, NM_001353243.2:c.720C>T, NM_001353243.1:c.720C>T, NM_001353254.2:c.720C>T, NM_001353254.1:c.720C>T, NM_001353296.2:c.282C>T, NM_001353296.1:c.282C>T, XM_024447180.2:c.720C>T, XM_024447180.1:c.720C>T, NM_001353267.2:c.720C>T, NM_001353267.1:c.720C>T, NM_001353300.2:c.282C>T, NM_001353300.1:c.282C>T, NM_001353312.2:c.720C>T, NM_001353312.1:c.720C>T, NM_001353261.2:c.720C>T, NM_001353261.1:c.720C>T, NM_001353268.2:c.720C>T, NM_001353268.1:c.720C>T, NM_001353287.2:c.282C>T, NM_001353287.1:c.282C>T, NM_001353311.2:c.720C>T, NM_001353311.1:c.720C>T, NM_001353307.2:c.720C>T, NM_001353307.1:c.720C>T, NM_001353258.2:c.720C>T, NM_001353258.1:c.720C>T, NM_001353248.2:c.720C>T, NM_001353248.1:c.720C>T, NM_001353264.2:c.720C>T, NM_001353264.1:c.720C>T, NM_001353289.2:c.282C>T, NM_001353289.1:c.282C>T, NM_001353314.2:c.720C>T, NM_001353314.1:c.720C>T, NM_001256763.2:c.720C>T, NM_001256763.1:c.720C>T, NM_001353256.2:c.720C>T, NM_001353256.1:c.720C>T, NM_001353265.2:c.720C>T, NM_001353265.1:c.720C>T, NM_001353310.2:c.720C>T, NM_001353310.1:c.720C>T, NM_001353262.2:c.720C>T, NM_001353262.1:c.720C>T, NM_001353316.2:c.696C>T, NM_001353316.1:c.696C>T, NM_001353290.2:c.282C>T, NM_001353290.1:c.282C>T, NM_001353285.2:c.282C>T, NM_001353285.1:c.282C>T, NM_001353306.2:c.720C>T, NM_001353306.1:c.720C>T, NM_001353260.2:c.720C>T, NM_001353260.1:c.720C>T, NM_001353294.2:c.282C>T, NM_001353294.1:c.282C>T, NM_001353298.2:c.282C>T, NM_001353298.1:c.282C>T, NM_001353284.2:c.282C>T, NM_001353284.1:c.282C>T, NM_001353257.2:c.720C>T, NM_001353257.1:c.720C>T, NM_001353313.2:c.720C>T, NM_001353313.1:c.720C>T, NM_001353292.2:c.282C>T, NM_001353292.1:c.282C>T, NM_001353291.2:c.282C>T, NM_001353291.1:c.282C>T, NM_001353263.2:c.720C>T, NM_001353263.1:c.720C>T, NM_001353299.2:c.282C>T, NM_001353299.1:c.282C>T, NM_001353295.2:c.282C>T, NM_001353295.1:c.282C>T, NM_001353266.2:c.720C>T, NM_001353266.1:c.720C>T, NM_001353276.2:c.282C>T, NM_001353276.1:c.282C>T, NM_001353286.2:c.282C>T, NM_001353286.1:c.282C>T, NM_001353288.2:c.282C>T, NM_001353288.1:c.282C>T, NM_001353283.2:c.282C>T, NM_001353283.1:c.282C>T, NM_001330612.2:c.282C>T, NM_001330612.1:c.282C>T, NM_001353293.2:c.282C>T, NM_001353293.1:c.282C>T, NM_001353301.2:c.282C>T, NM_001353301.1:c.282C>T, NM_001353282.2:c.282C>T, NM_001353282.1:c.282C>T, NM_001353297.2:c.282C>T, NM_001353297.1:c.282C>T, NR_046359.1:n.1387C>T, NR_046360.1:n.1297C>T, NR_046361.1:n.1287C>T, NM_001353251.1:c.720C>T, XM_047421856.1:c.720C>T, NM_001353309.1:c.720C>T, NM_001353255.1:c.720C>T, NM_001353253.1:c.720C>T, NM_001353275.1:c.282C>T, NM_001353247.1:c.720C>T, NM_001353245.1:c.720C>T, NM_001353272.1:c.282C>T, NM_001353302.1:c.720C>T, NM_001353250.1:c.720C>T, NM_001353279.1:c.282C>T, NM_001353304.1:c.720C>T, NM_001353246.1:c.720C>T, NM_001353303.1:c.720C>T, NM_001353270.1:c.282C>T, NM_001353278.1:c.282C>T, NM_001353281.1:c.282C>T, NM_001353308.1:c.720C>T, NM_001353249.1:c.720C>T, XM_047421855.1:c.873C>T, NM_001353274.1:c.282C>T, NM_001353305.1:c.720C>T, NM_001353252.1:c.720C>T, NM_001353280.1:c.282C>T, NM_001353271.1:c.282C>T, NM_001353273.1:c.282C>T, NM_001353277.1:c.282C>T, XM_047421859.1:c.720C>T, XM_047421857.1:c.720C>T, NM_001353269.1:c.282C>T

                                    18.

                                    rs1359698111 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      8:129846869 (GRCh38)
                                      8:130859115 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:129846868:T:C
                                      Gene:
                                      CYRIB (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      HGVS:
                                      NC_000008.11:g.129846869T>C, NC_000008.10:g.130859115T>C, NM_016623.5:c.846A>G, NM_016623.4:c.846A>G, XM_011517121.4:c.1188A>G, XM_011517121.3:c.846A>G, XM_011517121.2:c.846A>G, XM_011517121.1:c.846A>G, NM_001353244.2:c.846A>G, NM_001353244.1:c.846A>G, NM_001353259.2:c.846A>G, NM_001353259.1:c.846A>G, NM_001353315.2:c.846A>G, NM_001353315.1:c.846A>G, NM_001353242.2:c.846A>G, NM_001353242.1:c.846A>G, NM_001353243.2:c.846A>G, NM_001353243.1:c.846A>G, NM_001353254.2:c.846A>G, NM_001353254.1:c.846A>G, NM_001353296.2:c.408A>G, NM_001353296.1:c.408A>G, XM_024447180.2:c.846A>G, XM_024447180.1:c.846A>G, NM_001353267.2:c.846A>G, NM_001353267.1:c.846A>G, NM_001353300.2:c.408A>G, NM_001353300.1:c.408A>G, NM_001353312.2:c.846A>G, NM_001353312.1:c.846A>G, NM_001353261.2:c.846A>G, NM_001353261.1:c.846A>G, NM_001353268.2:c.846A>G, NM_001353268.1:c.846A>G, NM_001353287.2:c.408A>G, NM_001353287.1:c.408A>G, NM_001353311.2:c.846A>G, NM_001353311.1:c.846A>G, NM_001353307.2:c.846A>G, NM_001353307.1:c.846A>G, NM_001353258.2:c.846A>G, NM_001353258.1:c.846A>G, NM_001353248.2:c.846A>G, NM_001353248.1:c.846A>G, NM_001353264.2:c.846A>G, NM_001353264.1:c.846A>G, NM_001353289.2:c.408A>G, NM_001353289.1:c.408A>G, NM_001353314.2:c.846A>G, NM_001353314.1:c.846A>G, NM_001256763.2:c.846A>G, NM_001256763.1:c.846A>G, NM_001353256.2:c.846A>G, NM_001353256.1:c.846A>G, NM_001353265.2:c.846A>G, NM_001353265.1:c.846A>G, NM_001353310.2:c.846A>G, NM_001353310.1:c.846A>G, NM_001353262.2:c.846A>G, NM_001353262.1:c.846A>G, NM_001353316.2:c.822A>G, NM_001353316.1:c.822A>G, NM_001353290.2:c.408A>G, NM_001353290.1:c.408A>G, NM_001353285.2:c.408A>G, NM_001353285.1:c.408A>G, NM_001353306.2:c.846A>G, NM_001353306.1:c.846A>G, NM_001353260.2:c.846A>G, NM_001353260.1:c.846A>G, NM_001353294.2:c.408A>G, NM_001353294.1:c.408A>G, NM_001353298.2:c.408A>G, NM_001353298.1:c.408A>G, NM_001353284.2:c.408A>G, NM_001353284.1:c.408A>G, NM_001353257.2:c.846A>G, NM_001353257.1:c.846A>G, NM_001353313.2:c.846A>G, NM_001353313.1:c.846A>G, NM_001353292.2:c.408A>G, NM_001353292.1:c.408A>G, NM_001353291.2:c.408A>G, NM_001353291.1:c.408A>G, NM_001353263.2:c.846A>G, NM_001353263.1:c.846A>G, NM_001353299.2:c.408A>G, NM_001353299.1:c.408A>G, NM_001353295.2:c.408A>G, NM_001353295.1:c.408A>G, NM_001353266.2:c.846A>G, NM_001353266.1:c.846A>G, NM_001353276.2:c.408A>G, NM_001353276.1:c.408A>G, NM_001353286.2:c.408A>G, NM_001353286.1:c.408A>G, NM_001353288.2:c.408A>G, NM_001353288.1:c.408A>G, NM_001353283.2:c.408A>G, NM_001353283.1:c.408A>G, NM_001330612.2:c.408A>G, NM_001330612.1:c.408A>G, NM_001353293.2:c.408A>G, NM_001353293.1:c.408A>G, NM_001353301.2:c.408A>G, NM_001353301.1:c.408A>G, NM_001353282.2:c.408A>G, NM_001353282.1:c.408A>G, NM_001353297.2:c.408A>G, NM_001353297.1:c.408A>G, NR_046359.1:n.1513A>G, NR_046360.1:n.1423A>G, NR_046361.1:n.1413A>G, NM_001353251.1:c.846A>G, XM_047421856.1:c.846A>G, NM_001353309.1:c.846A>G, NM_001353255.1:c.846A>G, NM_001353253.1:c.846A>G, NM_001353275.1:c.408A>G, NM_001353247.1:c.846A>G, NM_001353245.1:c.846A>G, NM_001353272.1:c.408A>G, NM_001353302.1:c.846A>G, NM_001353250.1:c.846A>G, NM_001353279.1:c.408A>G, NM_001353304.1:c.846A>G, NM_001353246.1:c.846A>G, NM_001353303.1:c.846A>G, NM_001353270.1:c.408A>G, NM_001353278.1:c.408A>G, NM_001353281.1:c.408A>G, NM_001353308.1:c.846A>G, NM_001353249.1:c.846A>G, XM_047421855.1:c.999A>G, NM_001353274.1:c.408A>G, NM_001353305.1:c.846A>G, NM_001353252.1:c.846A>G, NM_001353280.1:c.408A>G, NM_001353271.1:c.408A>G, NM_001353273.1:c.408A>G, NM_001353277.1:c.408A>G, XM_047421859.1:c.846A>G, XM_047421857.1:c.846A>G, NM_001353269.1:c.408A>G

                                      19.

                                      rs1357852062 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->C [Show Flanks]
                                        Chromosome:
                                        8:129846825 (GRCh38)
                                        8:130859072 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:129846825:CC:CCC
                                        Gene:
                                        CYRIB (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,frameshift_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        CCC=0./0 (ALFA)
                                        HGVS:
                                        NC_000008.11:g.129846827dup, NC_000008.10:g.130859073dup, NM_016623.5:c.889dup, NM_016623.4:c.889dup, XM_011517121.4:c.1231dup, XM_011517121.3:c.889dup, XM_011517121.2:c.889dup, XM_011517121.1:c.889dup, NM_001353244.2:c.889dup, NM_001353244.1:c.889dup, NM_001353259.2:c.889dup, NM_001353259.1:c.889dup, NM_001353315.2:c.889dup, NM_001353315.1:c.889dup, NM_001353242.2:c.889dup, NM_001353242.1:c.889dup, NM_001353243.2:c.889dup, NM_001353243.1:c.889dup, NM_001353254.2:c.889dup, NM_001353254.1:c.889dup, NM_001353296.2:c.451dup, NM_001353296.1:c.451dup, XM_024447180.2:c.889dup, XM_024447180.1:c.889dup, NM_001353267.2:c.889dup, NM_001353267.1:c.889dup, NM_001353300.2:c.451dup, NM_001353300.1:c.451dup, NM_001353312.2:c.889dup, NM_001353312.1:c.889dup, NM_001353261.2:c.889dup, NM_001353261.1:c.889dup, NM_001353268.2:c.889dup, NM_001353268.1:c.889dup, NM_001353287.2:c.451dup, NM_001353287.1:c.451dup, NM_001353311.2:c.889dup, NM_001353311.1:c.889dup, NM_001353307.2:c.889dup, NM_001353307.1:c.889dup, NM_001353258.2:c.889dup, NM_001353258.1:c.889dup, NM_001353248.2:c.889dup, NM_001353248.1:c.889dup, NM_001353264.2:c.889dup, NM_001353264.1:c.889dup, NM_001353289.2:c.451dup, NM_001353289.1:c.451dup, NM_001353314.2:c.889dup, NM_001353314.1:c.889dup, NM_001256763.2:c.889dup, NM_001256763.1:c.889dup, NM_001353256.2:c.889dup, NM_001353256.1:c.889dup, NM_001353265.2:c.889dup, NM_001353265.1:c.889dup, NM_001353310.2:c.889dup, NM_001353310.1:c.889dup, NM_001353262.2:c.889dup, NM_001353262.1:c.889dup, NM_001353316.2:c.865dup, NM_001353316.1:c.865dup, NM_001353290.2:c.451dup, NM_001353290.1:c.451dup, NM_001353285.2:c.451dup, NM_001353285.1:c.451dup, NM_001353306.2:c.889dup, NM_001353306.1:c.889dup, NM_001353260.2:c.889dup, NM_001353260.1:c.889dup, NM_001353294.2:c.451dup, NM_001353294.1:c.451dup, NM_001353298.2:c.451dup, NM_001353298.1:c.451dup, NM_001353284.2:c.451dup, NM_001353284.1:c.451dup, NM_001353257.2:c.889dup, NM_001353257.1:c.889dup, NM_001353313.2:c.889dup, NM_001353313.1:c.889dup, NM_001353292.2:c.451dup, NM_001353292.1:c.451dup, NM_001353291.2:c.451dup, NM_001353291.1:c.451dup, NM_001353263.2:c.889dup, NM_001353263.1:c.889dup, NM_001353299.2:c.451dup, NM_001353299.1:c.451dup, NM_001353295.2:c.451dup, NM_001353295.1:c.451dup, NM_001353266.2:c.889dup, NM_001353266.1:c.889dup, NM_001353276.2:c.451dup, NM_001353276.1:c.451dup, NM_001353286.2:c.451dup, NM_001353286.1:c.451dup, NM_001353288.2:c.451dup, NM_001353288.1:c.451dup, NM_001353283.2:c.451dup, NM_001353283.1:c.451dup, NM_001330612.2:c.451dup, NM_001330612.1:c.451dup, NM_001353293.2:c.451dup, NM_001353293.1:c.451dup, NM_001353301.2:c.451dup, NM_001353301.1:c.451dup, NM_001353282.2:c.451dup, NM_001353282.1:c.451dup, NM_001353297.2:c.451dup, NM_001353297.1:c.451dup, NR_046359.1:n.1556dup, NR_046360.1:n.1466dup, NR_046361.1:n.1456dup, NM_001353251.1:c.889dup, XM_047421856.1:c.889dup, NM_001353309.1:c.889dup, NM_001353255.1:c.889dup, NM_001353253.1:c.889dup, NM_001353275.1:c.451dup, NM_001353247.1:c.889dup, NM_001353245.1:c.889dup, NM_001353272.1:c.451dup, NM_001353302.1:c.889dup, NM_001353250.1:c.889dup, NM_001353279.1:c.451dup, NM_001353304.1:c.889dup, NM_001353246.1:c.889dup, NM_001353303.1:c.889dup, NM_001353270.1:c.451dup, NM_001353278.1:c.451dup, NM_001353281.1:c.451dup, NM_001353308.1:c.889dup, NM_001353249.1:c.889dup, XM_047421855.1:c.1042dup, NM_001353274.1:c.451dup, NM_001353305.1:c.889dup, NM_001353252.1:c.889dup, NM_001353280.1:c.451dup, NM_001353271.1:c.451dup, NM_001353273.1:c.451dup, NM_001353277.1:c.451dup, XM_047421859.1:c.889dup, XM_047421857.1:c.889dup, NM_001353269.1:c.451dup, NP_057707.3:p.Glu297fs, XP_011515423.2:p.Glu411fs, NP_001340173.1:p.Glu297fs, NP_001340188.1:p.Glu297fs, NP_001340244.1:p.Glu297fs, NP_001340171.1:p.Glu297fs, NP_001340172.1:p.Glu297fs, NP_001340183.1:p.Glu297fs, NP_001340225.1:p.Glu151fs, XP_024302948.1:p.Glu297fs, NP_001340196.1:p.Glu297fs, NP_001340229.1:p.Glu151fs, NP_001340241.1:p.Glu297fs, NP_001340190.1:p.Glu297fs, NP_001340197.1:p.Glu297fs, NP_001340216.1:p.Glu151fs, NP_001340240.1:p.Glu297fs, NP_001340236.1:p.Glu297fs, NP_001340187.1:p.Glu297fs, NP_001340177.1:p.Glu297fs, NP_001340193.1:p.Glu297fs, NP_001340218.1:p.Glu151fs, NP_001340243.1:p.Glu297fs, NP_001243692.1:p.Glu297fs, NP_001340185.1:p.Glu297fs, NP_001340194.1:p.Glu297fs, NP_001340239.1:p.Glu297fs, NP_001340191.1:p.Glu297fs, NP_001340245.1:p.Glu289fs, NP_001340219.1:p.Glu151fs, NP_001340214.1:p.Glu151fs, NP_001340235.1:p.Glu297fs, NP_001340189.1:p.Glu297fs, NP_001340223.1:p.Glu151fs, NP_001340227.1:p.Glu151fs, NP_001340213.1:p.Glu151fs, NP_001340186.1:p.Glu297fs, NP_001340242.1:p.Glu297fs, NP_001340221.1:p.Glu151fs, NP_001340220.1:p.Glu151fs, NP_001340192.1:p.Glu297fs, NP_001340228.1:p.Glu151fs, NP_001340224.1:p.Glu151fs, NP_001340195.1:p.Glu297fs, NP_001340205.1:p.Glu151fs, NP_001340215.1:p.Glu151fs, NP_001340217.1:p.Glu151fs, NP_001340212.1:p.Glu151fs, NP_001317541.1:p.Glu151fs, NP_001340222.1:p.Glu151fs, NP_001340230.1:p.Glu151fs, NP_001340211.1:p.Glu151fs, NP_001340226.1:p.Glu151fs, NP_001340180.1:p.Glu297fs, XP_047277812.1:p.Glu297fs, NP_001340238.1:p.Glu297fs, NP_001340184.1:p.Glu297fs, NP_001340182.1:p.Glu297fs, NP_001340204.1:p.Glu151fs, NP_001340176.1:p.Glu297fs, NP_001340174.1:p.Glu297fs, NP_001340201.1:p.Glu151fs, NP_001340231.1:p.Glu297fs, NP_001340179.1:p.Glu297fs, NP_001340208.1:p.Glu151fs, NP_001340233.1:p.Glu297fs, NP_001340175.1:p.Glu297fs, NP_001340232.1:p.Glu297fs, NP_001340199.1:p.Glu151fs, NP_001340207.1:p.Glu151fs, NP_001340210.1:p.Glu151fs, NP_001340237.1:p.Glu297fs, NP_001340178.1:p.Glu297fs, XP_047277811.1:p.Glu348fs, NP_001340203.1:p.Glu151fs, NP_001340234.1:p.Glu297fs, NP_001340181.1:p.Glu297fs, NP_001340209.1:p.Glu151fs, NP_001340200.1:p.Glu151fs, NP_001340202.1:p.Glu151fs, NP_001340206.1:p.Glu151fs, XP_047277815.1:p.Glu297fs, XP_047277813.1:p.Glu297fs, NP_001340198.1:p.Glu151fs

                                        20.

                                        rs1354803211 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AGG>- [Show Flanks]
                                          Chromosome:
                                          8:129846839 (GRCh38)
                                          8:130859085 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:129846835:AGGAGG:AGG
                                          Gene:
                                          CYRIB (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,inframe_deletion
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          AGGAGG=0./0 (ALFA)
                                          HGVS:
                                          NC_000008.11:g.129846836AGG[1], NC_000008.10:g.130859082AGG[1], NM_016623.5:c.874CCT[1], NM_016623.4:c.874CCT[1], XM_011517121.4:c.1216CCT[1], XM_011517121.3:c.874CCT[1], XM_011517121.2:c.874CCT[1], XM_011517121.1:c.874CCT[1], NM_001353244.2:c.874CCT[1], NM_001353244.1:c.874CCT[1], NM_001353259.2:c.874CCT[1], NM_001353259.1:c.874CCT[1], NM_001353315.2:c.874CCT[1], NM_001353315.1:c.874CCT[1], NM_001353242.2:c.874CCT[1], NM_001353242.1:c.874CCT[1], NM_001353243.2:c.874CCT[1], NM_001353243.1:c.874CCT[1], NM_001353254.2:c.874CCT[1], NM_001353254.1:c.874CCT[1], NM_001353296.2:c.436CCT[1], NM_001353296.1:c.436CCT[1], XM_024447180.2:c.874CCT[1], XM_024447180.1:c.874CCT[1], NM_001353267.2:c.874CCT[1], NM_001353267.1:c.874CCT[1], NM_001353300.2:c.436CCT[1], NM_001353300.1:c.436CCT[1], NM_001353312.2:c.874CCT[1], NM_001353312.1:c.874CCT[1], NM_001353261.2:c.874CCT[1], NM_001353261.1:c.874CCT[1], NM_001353268.2:c.874CCT[1], NM_001353268.1:c.874CCT[1], NM_001353287.2:c.436CCT[1], NM_001353287.1:c.436CCT[1], NM_001353311.2:c.874CCT[1], NM_001353311.1:c.874CCT[1], NM_001353307.2:c.874CCT[1], NM_001353307.1:c.874CCT[1], NM_001353258.2:c.874CCT[1], NM_001353258.1:c.874CCT[1], NM_001353248.2:c.874CCT[1], NM_001353248.1:c.874CCT[1], NM_001353264.2:c.874CCT[1], NM_001353264.1:c.874CCT[1], NM_001353289.2:c.436CCT[1], NM_001353289.1:c.436CCT[1], NM_001353314.2:c.874CCT[1], NM_001353314.1:c.874CCT[1], NM_001256763.2:c.874CCT[1], NM_001256763.1:c.874CCT[1], NM_001353256.2:c.874CCT[1], NM_001353256.1:c.874CCT[1], NM_001353265.2:c.874CCT[1], NM_001353265.1:c.874CCT[1], NM_001353310.2:c.874CCT[1], NM_001353310.1:c.874CCT[1], NM_001353262.2:c.874CCT[1], NM_001353262.1:c.874CCT[1], NM_001353316.2:c.850CCT[1], NM_001353316.1:c.850CCT[1], NM_001353290.2:c.436CCT[1], NM_001353290.1:c.436CCT[1], NM_001353285.2:c.436CCT[1], NM_001353285.1:c.436CCT[1], NM_001353306.2:c.874CCT[1], NM_001353306.1:c.874CCT[1], NM_001353260.2:c.874CCT[1], NM_001353260.1:c.874CCT[1], NM_001353294.2:c.436CCT[1], NM_001353294.1:c.436CCT[1], NM_001353298.2:c.436CCT[1], NM_001353298.1:c.436CCT[1], NM_001353284.2:c.436CCT[1], NM_001353284.1:c.436CCT[1], NM_001353257.2:c.874CCT[1], NM_001353257.1:c.874CCT[1], NM_001353313.2:c.874CCT[1], NM_001353313.1:c.874CCT[1], NM_001353292.2:c.436CCT[1], NM_001353292.1:c.436CCT[1], NM_001353291.2:c.436CCT[1], NM_001353291.1:c.436CCT[1], NM_001353263.2:c.874CCT[1], NM_001353263.1:c.874CCT[1], NM_001353299.2:c.436CCT[1], NM_001353299.1:c.436CCT[1], NM_001353295.2:c.436CCT[1], NM_001353295.1:c.436CCT[1], NM_001353266.2:c.874CCT[1], NM_001353266.1:c.874CCT[1], NM_001353276.2:c.436CCT[1], NM_001353276.1:c.436CCT[1], NM_001353286.2:c.436CCT[1], NM_001353286.1:c.436CCT[1], NM_001353288.2:c.436CCT[1], NM_001353288.1:c.436CCT[1], NM_001353283.2:c.436CCT[1], NM_001353283.1:c.436CCT[1], NM_001330612.2:c.436CCT[1], NM_001330612.1:c.436CCT[1], NM_001353293.2:c.436CCT[1], NM_001353293.1:c.436CCT[1], NM_001353301.2:c.436CCT[1], NM_001353301.1:c.436CCT[1], NM_001353282.2:c.436CCT[1], NM_001353282.1:c.436CCT[1], NM_001353297.2:c.436CCT[1], NM_001353297.1:c.436CCT[1], NR_046359.1:n.1541CCT[1], NR_046360.1:n.1451CCT[1], NR_046361.1:n.1441CCT[1], NM_001353251.1:c.874CCT[1], XM_047421856.1:c.874CCT[1], NM_001353309.1:c.874CCT[1], NM_001353255.1:c.874CCT[1], NM_001353253.1:c.874CCT[1], NM_001353275.1:c.436CCT[1], NM_001353247.1:c.874CCT[1], NM_001353245.1:c.874CCT[1], NM_001353272.1:c.436CCT[1], NM_001353302.1:c.874CCT[1], NM_001353250.1:c.874CCT[1], NM_001353279.1:c.436CCT[1], NM_001353304.1:c.874CCT[1], NM_001353246.1:c.874CCT[1], NM_001353303.1:c.874CCT[1], NM_001353270.1:c.436CCT[1], NM_001353278.1:c.436CCT[1], NM_001353281.1:c.436CCT[1], NM_001353308.1:c.874CCT[1], NM_001353249.1:c.874CCT[1], XM_047421855.1:c.1027CCT[1], NM_001353274.1:c.436CCT[1], NM_001353305.1:c.874CCT[1], NM_001353252.1:c.874CCT[1], NM_001353280.1:c.436CCT[1], NM_001353271.1:c.436CCT[1], NM_001353273.1:c.436CCT[1], NM_001353277.1:c.436CCT[1], XM_047421859.1:c.874CCT[1], XM_047421857.1:c.874CCT[1], NM_001353269.1:c.436CCT[1], NP_057707.3:p.Pro293del, XP_011515423.2:p.Pro407del, NP_001340173.1:p.Pro293del, NP_001340188.1:p.Pro293del, NP_001340244.1:p.Pro293del, NP_001340171.1:p.Pro293del, NP_001340172.1:p.Pro293del, NP_001340183.1:p.Pro293del, NP_001340225.1:p.Pro147del, XP_024302948.1:p.Pro293del, NP_001340196.1:p.Pro293del, NP_001340229.1:p.Pro147del, NP_001340241.1:p.Pro293del, NP_001340190.1:p.Pro293del, NP_001340197.1:p.Pro293del, NP_001340216.1:p.Pro147del, NP_001340240.1:p.Pro293del, NP_001340236.1:p.Pro293del, NP_001340187.1:p.Pro293del, NP_001340177.1:p.Pro293del, NP_001340193.1:p.Pro293del, NP_001340218.1:p.Pro147del, NP_001340243.1:p.Pro293del, NP_001243692.1:p.Pro293del, NP_001340185.1:p.Pro293del, NP_001340194.1:p.Pro293del, NP_001340239.1:p.Pro293del, NP_001340191.1:p.Pro293del, NP_001340245.1:p.Pro285del, NP_001340219.1:p.Pro147del, NP_001340214.1:p.Pro147del, NP_001340235.1:p.Pro293del, NP_001340189.1:p.Pro293del, NP_001340223.1:p.Pro147del, NP_001340227.1:p.Pro147del, NP_001340213.1:p.Pro147del, NP_001340186.1:p.Pro293del, NP_001340242.1:p.Pro293del, NP_001340221.1:p.Pro147del, NP_001340220.1:p.Pro147del, NP_001340192.1:p.Pro293del, NP_001340228.1:p.Pro147del, NP_001340224.1:p.Pro147del, NP_001340195.1:p.Pro293del, NP_001340205.1:p.Pro147del, NP_001340215.1:p.Pro147del, NP_001340217.1:p.Pro147del, NP_001340212.1:p.Pro147del, NP_001317541.1:p.Pro147del, NP_001340222.1:p.Pro147del, NP_001340230.1:p.Pro147del, NP_001340211.1:p.Pro147del, NP_001340226.1:p.Pro147del, NP_001340180.1:p.Pro293del, XP_047277812.1:p.Pro293del, NP_001340238.1:p.Pro293del, NP_001340184.1:p.Pro293del, NP_001340182.1:p.Pro293del, NP_001340204.1:p.Pro147del, NP_001340176.1:p.Pro293del, NP_001340174.1:p.Pro293del, NP_001340201.1:p.Pro147del, NP_001340231.1:p.Pro293del, NP_001340179.1:p.Pro293del, NP_001340208.1:p.Pro147del, NP_001340233.1:p.Pro293del, NP_001340175.1:p.Pro293del, NP_001340232.1:p.Pro293del, NP_001340199.1:p.Pro147del, NP_001340207.1:p.Pro147del, NP_001340210.1:p.Pro147del, NP_001340237.1:p.Pro293del, NP_001340178.1:p.Pro293del, XP_047277811.1:p.Pro344del, NP_001340203.1:p.Pro147del, NP_001340234.1:p.Pro293del, NP_001340181.1:p.Pro293del, NP_001340209.1:p.Pro147del, NP_001340200.1:p.Pro147del, NP_001340202.1:p.Pro147del, NP_001340206.1:p.Pro147del, XP_047277815.1:p.Pro293del, XP_047277813.1:p.Pro293del, NP_001340198.1:p.Pro147del

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