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Items: 1 to 20 of 527

1.

rs1489913147 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    3:105659151 (GRCh38)
    3:105377995 (GRCh37)
    Canonical SPDI:
    NC_000003.12:105659150:T:C
    Gene:
    CBLB (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
    HGVS:
    NC_000003.12:g.105659151T>C, NC_000003.11:g.105377995T>C, NG_055547.1:g.215402A>G, NM_170662.5:c.2768A>G, NM_170662.4:c.2768A>G, NM_170662.3:c.2768A>G, NR_135806.2:n.3284A>G, NR_135806.1:n.3315A>G, NM_001321807.2:c.1988A>G, NM_001321807.1:c.1988A>G, NR_135807.2:n.3130A>G, NR_135807.1:n.3161A>G, NM_001321822.2:c.1439A>G, NM_001321822.1:c.1439A>G, NR_135808.2:n.3085A>G, NR_135808.1:n.3116A>G, NM_001321820.2:c.1448A>G, NM_001321820.1:c.1448A>G, NR_135809.2:n.3041A>G, NR_135809.1:n.3072A>G, NR_135810.2:n.2996A>G, NR_135810.1:n.3017A>G, NM_001321793.2:c.2636A>G, NM_001321793.1:c.2636A>G, NM_001321795.2:c.2621A>G, NM_001321795.1:c.2621A>G, NR_135811.2:n.2906A>G, NR_135811.1:n.2937A>G, NM_001321808.2:c.1856A>G, NM_001321808.1:c.1856A>G, NM_001321788.2:c.2768A>G, NM_001321788.1:c.2768A>G, NM_001321799.2:c.2489A>G, NM_001321799.1:c.2489A>G, NM_001321798.2:c.2489A>G, NM_001321798.1:c.2489A>G, NM_001321811.2:c.1841A>G, NM_001321811.1:c.1841A>G, NM_001321791.2:c.2636A>G, NM_001321791.1:c.2636A>G, NM_001321796.2:c.2621A>G, NM_001321796.1:c.2621A>G, NM_001321794.2:c.2621A>G, NM_001321794.1:c.2621A>G, NM_001321806.2:c.1988A>G, NM_001321806.1:c.1988A>G, NM_001321790.2:c.2702A>G, NM_001321790.1:c.2702A>G, NM_001321816.2:c.1709A>G, NM_001321816.1:c.1709A>G, NM_001321797.2:c.2489A>G, NM_001321797.1:c.2489A>G, NM_001321786.1:c.2852A>G, NM_001321813.1:c.1841A>G, NR_135812.1:n.2796A>G, NM_001321789.1:c.2705A>G, XM_017007396.2:c.2720A>G, XM_017007396.1:c.2720A>G, XM_017007397.2:c.2705A>G, XM_017007397.1:c.2705A>G, XM_017007395.2:c.2834A>G, XM_017007395.1:c.2834A>G, XM_011513257.2:c.2768A>G, XM_011513257.1:c.2768A>G, XM_017007400.2:c.2573A>G, XM_017007400.1:c.2573A>G, XM_017007398.2:c.2687A>G, XM_017007398.1:c.2687A>G, XM_047449112.1:c.2768A>G, XM_047449116.1:c.2312A>G, XM_047449115.1:c.2312A>G, XM_047449118.1:c.1988A>G, NP_733762.2:p.His923Arg, NP_001308736.1:p.His663Arg, NP_001308751.1:p.His480Arg, NP_001308749.1:p.His483Arg, NP_001308722.1:p.His879Arg, NP_001308724.1:p.His874Arg, NP_001308737.1:p.His619Arg, NP_001308717.1:p.His923Arg, NP_001308728.1:p.His830Arg, NP_001308727.1:p.His830Arg, NP_001308740.1:p.His614Arg, NP_001308720.1:p.His879Arg, NP_001308725.1:p.His874Arg, NP_001308723.1:p.His874Arg, NP_001308735.1:p.His663Arg, NP_001308719.1:p.His901Arg, NP_001308745.1:p.His570Arg, NP_001308726.1:p.His830Arg, NP_001308715.1:p.His951Arg, NP_001308742.1:p.His614Arg, NP_001308718.1:p.His902Arg, XP_016862885.1:p.His907Arg, XP_016862886.1:p.His902Arg, XP_016862884.1:p.His945Arg, XP_011511559.1:p.His923Arg, XP_016862889.1:p.His858Arg, XP_016862887.1:p.His896Arg, XP_047305068.1:p.His923Arg, XP_047305072.1:p.His771Arg, XP_047305071.1:p.His771Arg, XP_047305074.1:p.His663Arg

    2.

    rs1489438940 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      3:105702337 (GRCh38)
      3:105421181 (GRCh37)
      Canonical SPDI:
      NC_000003.12:105702336:A:G
      Gene:
      CBLB (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000003.12:g.105702337A>G, NC_000003.11:g.105421181A>G, NG_055547.1:g.172216T>C, NM_170662.5:c.1716T>C, NM_170662.4:c.1716T>C, NM_170662.3:c.1716T>C, NR_135806.2:n.2139T>C, NR_135806.1:n.2170T>C, NM_001321807.2:c.936T>C, NM_001321807.1:c.936T>C, NR_135807.2:n.2055T>C, NR_135807.1:n.2086T>C, NM_001321822.2:c.387T>C, NM_001321822.1:c.387T>C, NR_135808.2:n.2007T>C, NR_135808.1:n.2038T>C, NM_001321820.2:c.528T>C, NM_001321820.1:c.528T>C, NR_135809.2:n.2121T>C, NR_135809.1:n.2152T>C, NR_135810.2:n.1795T>C, NR_135810.1:n.1816T>C, NM_001321793.2:c.1716T>C, NM_001321793.1:c.1716T>C, NM_001321795.2:c.1716T>C, NM_001321795.1:c.1716T>C, NR_135811.2:n.1831T>C, NR_135811.1:n.1862T>C, NM_001321808.2:c.936T>C, NM_001321808.1:c.936T>C, NM_001321788.2:c.1716T>C, NM_001321788.1:c.1716T>C, NM_001321799.2:c.1569T>C, NM_001321799.1:c.1569T>C, NM_001321798.2:c.1716T>C, NM_001321798.1:c.1716T>C, NM_001321811.2:c.936T>C, NM_001321811.1:c.936T>C, NM_001321791.2:c.1716T>C, NM_001321791.1:c.1716T>C, NM_001321796.2:c.1569T>C, NM_001321796.1:c.1569T>C, NM_001321794.2:c.1716T>C, NM_001321794.1:c.1716T>C, NM_001321806.2:c.936T>C, NM_001321806.1:c.936T>C, NM_001321790.2:c.1782T>C, NM_001321790.1:c.1782T>C, NM_001321816.2:c.936T>C, NM_001321816.1:c.936T>C, NM_001321797.2:c.1716T>C, NM_001321797.1:c.1716T>C, NM_001321786.1:c.1800T>C, NM_001321813.1:c.936T>C, NR_135812.1:n.1758T>C, NM_001321789.1:c.1800T>C, XM_011513259.4:c.1800T>C, XM_011513259.3:c.1800T>C, XM_011513259.2:c.1800T>C, XM_011513259.1:c.1716T>C, XM_017007396.2:c.1800T>C, XM_017007396.1:c.1800T>C, XM_017007397.2:c.1653T>C, XM_017007397.1:c.1653T>C, XM_017007395.2:c.1782T>C, XM_017007395.1:c.1782T>C, XM_011513257.2:c.1716T>C, XM_011513257.1:c.1716T>C, XM_017007400.2:c.1653T>C, XM_017007400.1:c.1653T>C, XM_017007398.2:c.1635T>C, XM_017007398.1:c.1635T>C, XM_047449112.1:c.1716T>C, XM_047449116.1:c.1260T>C, XM_047449115.1:c.1260T>C, XM_047449118.1:c.936T>C, NM_004351.1:c.1716T>C, XR_007095762.1:n.1943T>C, XR_007095761.1:n.1943T>C, XM_047449113.1:c.1800T>C, XM_047449114.1:c.1800T>C, XM_047449117.1:c.1716T>C

      3.

      rs1485074587 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        3:105670296 (GRCh38)
        3:105389140 (GRCh37)
        Canonical SPDI:
        NC_000003.12:105670295:G:A
        Gene:
        CBLB (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000003.12:g.105670296G>A, NC_000003.11:g.105389140G>A, NG_055547.1:g.204257C>T, NM_170662.5:c.2626C>T, NM_170662.4:c.2626C>T, NM_170662.3:c.2626C>T, NR_135806.2:n.3142C>T, NR_135806.1:n.3173C>T, NM_001321807.2:c.1846C>T, NM_001321807.1:c.1846C>T, NR_135807.2:n.2988C>T, NR_135807.1:n.3019C>T, NM_001321822.2:c.1297C>T, NM_001321822.1:c.1297C>T, NR_135808.2:n.2943C>T, NR_135808.1:n.2974C>T, NM_001321820.2:c.1306C>T, NM_001321820.1:c.1306C>T, NR_135809.2:n.2899C>T, NR_135809.1:n.2930C>T, NR_135810.2:n.2854C>T, NR_135810.1:n.2875C>T, NM_001321793.2:c.2494C>T, NM_001321793.1:c.2494C>T, NM_001321795.2:c.2479C>T, NM_001321795.1:c.2479C>T, NR_135811.2:n.2764C>T, NR_135811.1:n.2795C>T, NM_001321808.2:c.1714C>T, NM_001321808.1:c.1714C>T, NM_001321788.2:c.2626C>T, NM_001321788.1:c.2626C>T, NM_001321799.2:c.2347C>T, NM_001321799.1:c.2347C>T, NM_001321798.2:c.2347C>T, NM_001321798.1:c.2347C>T, NM_001321811.2:c.1699C>T, NM_001321811.1:c.1699C>T, NM_001321791.2:c.2494C>T, NM_001321791.1:c.2494C>T, NM_001321796.2:c.2479C>T, NM_001321796.1:c.2479C>T, NM_001321794.2:c.2479C>T, NM_001321794.1:c.2479C>T, NM_001321806.2:c.1846C>T, NM_001321806.1:c.1846C>T, NM_001321790.2:c.2560C>T, NM_001321790.1:c.2560C>T, NM_001321816.2:c.1567C>T, NM_001321816.1:c.1567C>T, NM_001321797.2:c.2347C>T, NM_001321797.1:c.2347C>T, NM_001321786.1:c.2710C>T, NM_001321813.1:c.1699C>T, NR_135812.1:n.2654C>T, NM_001321789.1:c.2563C>T, XM_017007396.2:c.2578C>T, XM_017007396.1:c.2578C>T, XM_017007397.2:c.2563C>T, XM_017007397.1:c.2563C>T, XM_017007395.2:c.2692C>T, XM_017007395.1:c.2692C>T, XM_011513257.2:c.2626C>T, XM_011513257.1:c.2626C>T, XM_017007400.2:c.2431C>T, XM_017007400.1:c.2431C>T, XM_017007398.2:c.2545C>T, XM_017007398.1:c.2545C>T, XM_047449112.1:c.2626C>T, XM_047449116.1:c.2170C>T, XM_047449115.1:c.2170C>T, XM_047449118.1:c.1846C>T, XR_007095762.1:n.2972C>T, XR_007095761.1:n.2969C>T, XM_047449113.1:c.*39C>T, XM_047449114.1:c.*39C>T, XM_047449117.1:c.*39C>T, NP_733762.2:p.Pro876Ser, NP_001308736.1:p.Pro616Ser, NP_001308751.1:p.Pro433Ser, NP_001308749.1:p.Pro436Ser, NP_001308722.1:p.Pro832Ser, NP_001308724.1:p.Pro827Ser, NP_001308737.1:p.Pro572Ser, NP_001308717.1:p.Pro876Ser, NP_001308728.1:p.Pro783Ser, NP_001308727.1:p.Pro783Ser, NP_001308740.1:p.Pro567Ser, NP_001308720.1:p.Pro832Ser, NP_001308725.1:p.Pro827Ser, NP_001308723.1:p.Pro827Ser, NP_001308735.1:p.Pro616Ser, NP_001308719.1:p.Pro854Ser, NP_001308745.1:p.Pro523Ser, NP_001308726.1:p.Pro783Ser, NP_001308715.1:p.Pro904Ser, NP_001308742.1:p.Pro567Ser, NP_001308718.1:p.Pro855Ser, XP_016862885.1:p.Pro860Ser, XP_016862886.1:p.Pro855Ser, XP_016862884.1:p.Pro898Ser, XP_011511559.1:p.Pro876Ser, XP_016862889.1:p.Pro811Ser, XP_016862887.1:p.Pro849Ser, XP_047305068.1:p.Pro876Ser, XP_047305072.1:p.Pro724Ser, XP_047305071.1:p.Pro724Ser, XP_047305074.1:p.Pro616Ser

        4.

        rs1481691621 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          3:105659209 (GRCh38)
          3:105378053 (GRCh37)
          Canonical SPDI:
          NC_000003.12:105659208:T:C
          Gene:
          CBLB (Varview)
          Functional Consequence:
          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
          Validated:
          by cluster
          HGVS:
          NC_000003.12:g.105659209T>C, NC_000003.11:g.105378053T>C, NG_055547.1:g.215344A>G, NM_170662.5:c.2710A>G, NM_170662.4:c.2710A>G, NM_170662.3:c.2710A>G, NR_135806.2:n.3226A>G, NR_135806.1:n.3257A>G, NM_001321807.2:c.1930A>G, NM_001321807.1:c.1930A>G, NR_135807.2:n.3072A>G, NR_135807.1:n.3103A>G, NM_001321822.2:c.1381A>G, NM_001321822.1:c.1381A>G, NR_135808.2:n.3027A>G, NR_135808.1:n.3058A>G, NM_001321820.2:c.1390A>G, NM_001321820.1:c.1390A>G, NR_135809.2:n.2983A>G, NR_135809.1:n.3014A>G, NR_135810.2:n.2938A>G, NR_135810.1:n.2959A>G, NM_001321793.2:c.2578A>G, NM_001321793.1:c.2578A>G, NM_001321795.2:c.2563A>G, NM_001321795.1:c.2563A>G, NR_135811.2:n.2848A>G, NR_135811.1:n.2879A>G, NM_001321808.2:c.1798A>G, NM_001321808.1:c.1798A>G, NM_001321788.2:c.2710A>G, NM_001321788.1:c.2710A>G, NM_001321799.2:c.2431A>G, NM_001321799.1:c.2431A>G, NM_001321798.2:c.2431A>G, NM_001321798.1:c.2431A>G, NM_001321811.2:c.1783A>G, NM_001321811.1:c.1783A>G, NM_001321791.2:c.2578A>G, NM_001321791.1:c.2578A>G, NM_001321796.2:c.2563A>G, NM_001321796.1:c.2563A>G, NM_001321794.2:c.2563A>G, NM_001321794.1:c.2563A>G, NM_001321806.2:c.1930A>G, NM_001321806.1:c.1930A>G, NM_001321790.2:c.2644A>G, NM_001321790.1:c.2644A>G, NM_001321816.2:c.1651A>G, NM_001321816.1:c.1651A>G, NM_001321797.2:c.2431A>G, NM_001321797.1:c.2431A>G, NM_001321786.1:c.2794A>G, NM_001321813.1:c.1783A>G, NR_135812.1:n.2738A>G, NM_001321789.1:c.2647A>G, XM_017007396.2:c.2662A>G, XM_017007396.1:c.2662A>G, XM_017007397.2:c.2647A>G, XM_017007397.1:c.2647A>G, XM_017007395.2:c.2776A>G, XM_017007395.1:c.2776A>G, XM_011513257.2:c.2710A>G, XM_011513257.1:c.2710A>G, XM_017007400.2:c.2515A>G, XM_017007400.1:c.2515A>G, XM_017007398.2:c.2629A>G, XM_017007398.1:c.2629A>G, XM_047449112.1:c.2710A>G, XM_047449116.1:c.2254A>G, XM_047449115.1:c.2254A>G, XM_047449118.1:c.1930A>G, NP_733762.2:p.Arg904Gly, NP_001308736.1:p.Arg644Gly, NP_001308751.1:p.Arg461Gly, NP_001308749.1:p.Arg464Gly, NP_001308722.1:p.Arg860Gly, NP_001308724.1:p.Arg855Gly, NP_001308737.1:p.Arg600Gly, NP_001308717.1:p.Arg904Gly, NP_001308728.1:p.Arg811Gly, NP_001308727.1:p.Arg811Gly, NP_001308740.1:p.Arg595Gly, NP_001308720.1:p.Arg860Gly, NP_001308725.1:p.Arg855Gly, NP_001308723.1:p.Arg855Gly, NP_001308735.1:p.Arg644Gly, NP_001308719.1:p.Arg882Gly, NP_001308745.1:p.Arg551Gly, NP_001308726.1:p.Arg811Gly, NP_001308715.1:p.Arg932Gly, NP_001308742.1:p.Arg595Gly, NP_001308718.1:p.Arg883Gly, XP_016862885.1:p.Arg888Gly, XP_016862886.1:p.Arg883Gly, XP_016862884.1:p.Arg926Gly, XP_011511559.1:p.Arg904Gly, XP_016862889.1:p.Arg839Gly, XP_016862887.1:p.Arg877Gly, XP_047305068.1:p.Arg904Gly, XP_047305072.1:p.Arg752Gly, XP_047305071.1:p.Arg752Gly, XP_047305074.1:p.Arg644Gly

          5.

          rs1481391670 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            3:105681816 (GRCh38)
            3:105400660 (GRCh37)
            Canonical SPDI:
            NC_000003.12:105681815:G:C
            Gene:
            CBLB (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.105681816G>C, NC_000003.11:g.105400660G>C, NG_055547.1:g.192737C>G, NM_170662.5:c.2204C>G, NM_170662.4:c.2204C>G, NM_170662.3:c.2204C>G, NR_135806.2:n.2627C>G, NR_135806.1:n.2658C>G, NM_001321807.2:c.1424C>G, NM_001321807.1:c.1424C>G, NR_135807.2:n.2543C>G, NR_135807.1:n.2574C>G, NM_001321822.2:c.875C>G, NM_001321822.1:c.875C>G, NR_135808.2:n.2495C>G, NR_135808.1:n.2526C>G, NM_001321820.2:c.1016C>G, NM_001321820.1:c.1016C>G, NR_135809.2:n.2609C>G, NR_135809.1:n.2640C>G, NR_135810.2:n.2283C>G, NR_135810.1:n.2304C>G, NM_001321793.2:c.2204C>G, NM_001321793.1:c.2204C>G, NM_001321795.2:c.2057C>G, NM_001321795.1:c.2057C>G, NR_135811.2:n.2319C>G, NR_135811.1:n.2350C>G, NM_001321808.2:c.1424C>G, NM_001321808.1:c.1424C>G, NM_001321788.2:c.2204C>G, NM_001321788.1:c.2204C>G, NM_001321799.2:c.2057C>G, NM_001321799.1:c.2057C>G, NM_001321798.2:c.2057C>G, NM_001321798.1:c.2057C>G, NM_001321811.2:c.1277C>G, NM_001321811.1:c.1277C>G, NM_001321791.2:c.2204C>G, NM_001321791.1:c.2204C>G, NM_001321796.2:c.2057C>G, NM_001321796.1:c.2057C>G, NM_001321794.2:c.2057C>G, NM_001321794.1:c.2057C>G, NM_001321806.2:c.1424C>G, NM_001321806.1:c.1424C>G, NM_001321790.2:c.2270C>G, NM_001321790.1:c.2270C>G, NM_001321816.2:c.1277C>G, NM_001321816.1:c.1277C>G, NM_001321797.2:c.2057C>G, NM_001321797.1:c.2057C>G, NM_001321786.1:c.2288C>G, NM_001321813.1:c.1277C>G, NR_135812.1:n.2246C>G, NM_001321789.1:c.2141C>G, XM_011513259.4:c.2288C>G, XM_011513259.3:c.2288C>G, XM_011513259.2:c.2288C>G, XM_011513259.1:c.2204C>G, XM_017007396.2:c.2288C>G, XM_017007396.1:c.2288C>G, XM_017007397.2:c.2141C>G, XM_017007397.1:c.2141C>G, XM_017007395.2:c.2270C>G, XM_017007395.1:c.2270C>G, XM_011513257.2:c.2204C>G, XM_011513257.1:c.2204C>G, XM_017007400.2:c.2141C>G, XM_017007400.1:c.2141C>G, XM_017007398.2:c.2123C>G, XM_017007398.1:c.2123C>G, XM_047449112.1:c.2204C>G, XM_047449116.1:c.1748C>G, XM_047449115.1:c.1748C>G, XM_047449118.1:c.1424C>G, NM_004351.1:c.2204C>G, XR_007095762.1:n.2431C>G, XR_007095761.1:n.2431C>G, XM_047449113.1:c.2288C>G, XM_047449114.1:c.2288C>G, XM_047449117.1:c.2204C>G, NP_733762.2:p.Ser735Cys, NP_001308736.1:p.Ser475Cys, NP_001308751.1:p.Ser292Cys, NP_001308749.1:p.Ser339Cys, NP_001308722.1:p.Ser735Cys, NP_001308724.1:p.Ser686Cys, NP_001308737.1:p.Ser475Cys, NP_001308717.1:p.Ser735Cys, NP_001308728.1:p.Ser686Cys, NP_001308727.1:p.Ser686Cys, NP_001308740.1:p.Ser426Cys, NP_001308720.1:p.Ser735Cys, NP_001308725.1:p.Ser686Cys, NP_001308723.1:p.Ser686Cys, NP_001308735.1:p.Ser475Cys, NP_001308719.1:p.Ser757Cys, NP_001308745.1:p.Ser426Cys, NP_001308726.1:p.Ser686Cys, NP_001308715.1:p.Ser763Cys, NP_001308742.1:p.Ser426Cys, NP_001308718.1:p.Ser714Cys, XP_011511561.2:p.Ser763Cys, XP_016862885.1:p.Ser763Cys, XP_016862886.1:p.Ser714Cys, XP_016862884.1:p.Ser757Cys, XP_011511559.1:p.Ser735Cys, XP_016862889.1:p.Ser714Cys, XP_016862887.1:p.Ser708Cys, XP_047305068.1:p.Ser735Cys, XP_047305072.1:p.Ser583Cys, XP_047305071.1:p.Ser583Cys, XP_047305074.1:p.Ser475Cys, XP_047305069.1:p.Ser763Cys, XP_047305070.1:p.Ser763Cys, XP_047305073.1:p.Ser735Cys

            6.

            rs1481342352 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              3:105702145 (GRCh38)
              3:105420989 (GRCh37)
              Canonical SPDI:
              NC_000003.12:105702144:T:A
              Gene:
              CBLB (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:
              NC_000003.12:g.105702145T>A, NC_000003.11:g.105420989T>A, NG_055547.1:g.172408A>T, NM_170662.5:c.1908A>T, NM_170662.4:c.1908A>T, NM_170662.3:c.1908A>T, NR_135806.2:n.2331A>T, NR_135806.1:n.2362A>T, NM_001321807.2:c.1128A>T, NM_001321807.1:c.1128A>T, NR_135807.2:n.2247A>T, NR_135807.1:n.2278A>T, NM_001321822.2:c.579A>T, NM_001321822.1:c.579A>T, NR_135808.2:n.2199A>T, NR_135808.1:n.2230A>T, NM_001321820.2:c.720A>T, NM_001321820.1:c.720A>T, NR_135809.2:n.2313A>T, NR_135809.1:n.2344A>T, NR_135810.2:n.1987A>T, NR_135810.1:n.2008A>T, NM_001321793.2:c.1908A>T, NM_001321793.1:c.1908A>T, NM_001321795.2:c.1908A>T, NM_001321795.1:c.1908A>T, NR_135811.2:n.2023A>T, NR_135811.1:n.2054A>T, NM_001321808.2:c.1128A>T, NM_001321808.1:c.1128A>T, NM_001321788.2:c.1908A>T, NM_001321788.1:c.1908A>T, NM_001321799.2:c.1761A>T, NM_001321799.1:c.1761A>T, NM_001321798.2:c.1908A>T, NM_001321798.1:c.1908A>T, NM_001321811.2:c.1128A>T, NM_001321811.1:c.1128A>T, NM_001321791.2:c.1908A>T, NM_001321791.1:c.1908A>T, NM_001321796.2:c.1761A>T, NM_001321796.1:c.1761A>T, NM_001321794.2:c.1908A>T, NM_001321794.1:c.1908A>T, NM_001321806.2:c.1128A>T, NM_001321806.1:c.1128A>T, NM_001321790.2:c.1974A>T, NM_001321790.1:c.1974A>T, NM_001321816.2:c.1128A>T, NM_001321816.1:c.1128A>T, NM_001321797.2:c.1908A>T, NM_001321797.1:c.1908A>T, NM_001321786.1:c.1992A>T, NM_001321813.1:c.1128A>T, NR_135812.1:n.1950A>T, NM_001321789.1:c.1992A>T, XM_011513259.4:c.1992A>T, XM_011513259.3:c.1992A>T, XM_011513259.2:c.1992A>T, XM_011513259.1:c.1908A>T, XM_017007396.2:c.1992A>T, XM_017007396.1:c.1992A>T, XM_017007397.2:c.1845A>T, XM_017007397.1:c.1845A>T, XM_017007395.2:c.1974A>T, XM_017007395.1:c.1974A>T, XM_011513257.2:c.1908A>T, XM_011513257.1:c.1908A>T, XM_017007400.2:c.1845A>T, XM_017007400.1:c.1845A>T, XM_017007398.2:c.1827A>T, XM_017007398.1:c.1827A>T, XM_047449112.1:c.1908A>T, XM_047449116.1:c.1452A>T, XM_047449115.1:c.1452A>T, XM_047449118.1:c.1128A>T, NM_004351.1:c.1908A>T, XR_007095762.1:n.2135A>T, XR_007095761.1:n.2135A>T, XM_047449113.1:c.1992A>T, XM_047449114.1:c.1992A>T, XM_047449117.1:c.1908A>T

              7.

              rs1480583893 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                3:105704085 (GRCh38)
                3:105422929 (GRCh37)
                Canonical SPDI:
                NC_000003.12:105704084:A:C
                Gene:
                CBLB (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                HGVS:
                NC_000003.12:g.105704085A>C, NC_000003.11:g.105422929A>C, NG_055547.1:g.170468T>G, NM_170662.5:c.1496T>G, NM_170662.4:c.1496T>G, NM_170662.3:c.1496T>G, NR_135806.2:n.1919T>G, NR_135806.1:n.1950T>G, NM_001321807.2:c.716T>G, NM_001321807.1:c.716T>G, NR_135807.2:n.1835T>G, NR_135807.1:n.1866T>G, NM_001321822.2:c.167T>G, NM_001321822.1:c.167T>G, NR_135808.2:n.1787T>G, NR_135808.1:n.1818T>G, NM_001321820.2:c.308T>G, NM_001321820.1:c.308T>G, NR_135809.2:n.1901T>G, NR_135809.1:n.1932T>G, NR_135810.2:n.1575T>G, NR_135810.1:n.1596T>G, NM_001321793.2:c.1496T>G, NM_001321793.1:c.1496T>G, NM_001321795.2:c.1496T>G, NM_001321795.1:c.1496T>G, NR_135811.2:n.1611T>G, NR_135811.1:n.1642T>G, NM_001321808.2:c.716T>G, NM_001321808.1:c.716T>G, NM_001321788.2:c.1496T>G, NM_001321788.1:c.1496T>G, NM_001321799.2:c.1349T>G, NM_001321799.1:c.1349T>G, NM_001321798.2:c.1496T>G, NM_001321798.1:c.1496T>G, NM_001321811.2:c.716T>G, NM_001321811.1:c.716T>G, NM_001321791.2:c.1496T>G, NM_001321791.1:c.1496T>G, NM_001321796.2:c.1349T>G, NM_001321796.1:c.1349T>G, NM_001321794.2:c.1496T>G, NM_001321794.1:c.1496T>G, NM_001321806.2:c.716T>G, NM_001321806.1:c.716T>G, NM_001321790.2:c.1562T>G, NM_001321790.1:c.1562T>G, NM_001321816.2:c.716T>G, NM_001321816.1:c.716T>G, NM_001321797.2:c.1496T>G, NM_001321797.1:c.1496T>G, NM_001321786.1:c.1580T>G, NM_001321813.1:c.716T>G, NR_135812.1:n.1538T>G, NM_001321789.1:c.1580T>G, XM_011513259.4:c.1580T>G, XM_011513259.3:c.1580T>G, XM_011513259.2:c.1580T>G, XM_011513259.1:c.1496T>G, XM_017007396.2:c.1580T>G, XM_017007396.1:c.1580T>G, XM_017007397.2:c.1433T>G, XM_017007397.1:c.1433T>G, XM_017007395.2:c.1562T>G, XM_017007395.1:c.1562T>G, XM_011513257.2:c.1496T>G, XM_011513257.1:c.1496T>G, XM_017007400.2:c.1433T>G, XM_017007400.1:c.1433T>G, XM_017007398.2:c.1415T>G, XM_017007398.1:c.1415T>G, XM_047449112.1:c.1496T>G, XM_047449116.1:c.1040T>G, XM_047449115.1:c.1040T>G, XM_047449118.1:c.716T>G, NM_004351.1:c.1496T>G, XR_007095762.1:n.1723T>G, XR_007095761.1:n.1723T>G, XM_047449113.1:c.1580T>G, XM_047449114.1:c.1580T>G, XM_047449117.1:c.1496T>G, NP_733762.2:p.Ile499Ser, NP_001308736.1:p.Ile239Ser, NP_001308751.1:p.Ile56Ser, NP_001308749.1:p.Ile103Ser, NP_001308722.1:p.Ile499Ser, NP_001308724.1:p.Ile499Ser, NP_001308737.1:p.Ile239Ser, NP_001308717.1:p.Ile499Ser, NP_001308728.1:p.Ile450Ser, NP_001308727.1:p.Ile499Ser, NP_001308740.1:p.Ile239Ser, NP_001308720.1:p.Ile499Ser, NP_001308725.1:p.Ile450Ser, NP_001308723.1:p.Ile499Ser, NP_001308735.1:p.Ile239Ser, NP_001308719.1:p.Ile521Ser, NP_001308745.1:p.Ile239Ser, NP_001308726.1:p.Ile499Ser, NP_001308715.1:p.Ile527Ser, NP_001308742.1:p.Ile239Ser, NP_001308718.1:p.Ile527Ser, XP_011511561.2:p.Ile527Ser, XP_016862885.1:p.Ile527Ser, XP_016862886.1:p.Ile478Ser, XP_016862884.1:p.Ile521Ser, XP_011511559.1:p.Ile499Ser, XP_016862889.1:p.Ile478Ser, XP_016862887.1:p.Ile472Ser, XP_047305068.1:p.Ile499Ser, XP_047305072.1:p.Ile347Ser, XP_047305071.1:p.Ile347Ser, XP_047305074.1:p.Ile239Ser, XP_047305069.1:p.Ile527Ser, XP_047305070.1:p.Ile527Ser, XP_047305073.1:p.Ile499Ser

                8.

                rs1480257627 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  3:105678454 (GRCh38)
                  3:105397298 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:105678453:T:A
                  Gene:
                  CBLB (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000066/1 (ALFA)
                  A=0.000007/1 (GnomAD)
                  A=0.000008/2 (GnomAD_exomes)
                  A=0.000223/1 (Estonian)
                  HGVS:
                  NC_000003.12:g.105678454T>A, NC_000003.11:g.105397298T>A, NG_055547.1:g.196099A>T, NM_170662.5:c.2546A>T, NM_170662.4:c.2546A>T, NM_170662.3:c.2546A>T, NR_135806.2:n.2969A>T, NR_135806.1:n.3000A>T, NM_001321807.2:c.1766A>T, NM_001321807.1:c.1766A>T, NR_135807.2:n.2885A>T, NR_135807.1:n.2916A>T, NM_001321822.2:c.1217A>T, NM_001321822.1:c.1217A>T, NR_135808.2:n.2837A>T, NR_135808.1:n.2868A>T, NM_001321820.2:c.1226A>T, NM_001321820.1:c.1226A>T, NR_135809.2:n.2819A>T, NR_135809.1:n.2850A>T, NR_135810.2:n.2625A>T, NR_135810.1:n.2646A>T, NM_001321793.2:c.2414A>T, NM_001321793.1:c.2414A>T, NM_001321795.2:c.2399A>T, NM_001321795.1:c.2399A>T, NR_135811.2:n.2661A>T, NR_135811.1:n.2692A>T, NM_001321808.2:c.1634A>T, NM_001321808.1:c.1634A>T, NM_001321788.2:c.2546A>T, NM_001321788.1:c.2546A>T, NM_001321799.2:c.2267A>T, NM_001321799.1:c.2267A>T, NM_001321798.2:c.2267A>T, NM_001321798.1:c.2267A>T, NM_001321811.2:c.1619A>T, NM_001321811.1:c.1619A>T, NM_001321791.2:c.2414A>T, NM_001321791.1:c.2414A>T, NM_001321796.2:c.2399A>T, NM_001321796.1:c.2399A>T, NM_001321794.2:c.2399A>T, NM_001321794.1:c.2399A>T, NM_001321806.2:c.1766A>T, NM_001321806.1:c.1766A>T, NM_001321790.2:c.2480A>T, NM_001321790.1:c.2480A>T, NM_001321816.2:c.1487A>T, NM_001321816.1:c.1487A>T, NM_001321797.2:c.2267A>T, NM_001321797.1:c.2267A>T, NM_001321786.1:c.2630A>T, NM_001321813.1:c.1619A>T, NR_135812.1:n.2456A>T, NM_001321789.1:c.2483A>T, XM_011513259.4:c.2630A>T, XM_011513259.3:c.2630A>T, XM_011513259.2:c.2630A>T, XM_011513259.1:c.2546A>T, XM_017007396.2:c.2498A>T, XM_017007396.1:c.2498A>T, XM_017007397.2:c.2483A>T, XM_017007397.1:c.2483A>T, XM_017007395.2:c.2612A>T, XM_017007395.1:c.2612A>T, XM_011513257.2:c.2546A>T, XM_011513257.1:c.2546A>T, XM_017007400.2:c.2351A>T, XM_017007400.1:c.2351A>T, XM_017007398.2:c.2465A>T, XM_017007398.1:c.2465A>T, XM_047449112.1:c.2546A>T, XM_047449116.1:c.2090A>T, XM_047449115.1:c.2090A>T, XM_047449118.1:c.1766A>T, XR_007095762.1:n.2773A>T, XR_007095761.1:n.2773A>T, XM_047449113.1:c.2630A>T, XM_047449114.1:c.2630A>T, XM_047449117.1:c.2414A>T, NP_733762.2:p.Gln849Leu, NP_001308736.1:p.Gln589Leu, NP_001308751.1:p.Gln406Leu, NP_001308749.1:p.Gln409Leu, NP_001308722.1:p.Gln805Leu, NP_001308724.1:p.Gln800Leu, NP_001308737.1:p.Gln545Leu, NP_001308717.1:p.Gln849Leu, NP_001308728.1:p.Gln756Leu, NP_001308727.1:p.Gln756Leu, NP_001308740.1:p.Gln540Leu, NP_001308720.1:p.Gln805Leu, NP_001308725.1:p.Gln800Leu, NP_001308723.1:p.Gln800Leu, NP_001308735.1:p.Gln589Leu, NP_001308719.1:p.Gln827Leu, NP_001308745.1:p.Gln496Leu, NP_001308726.1:p.Gln756Leu, NP_001308715.1:p.Gln877Leu, NP_001308742.1:p.Gln540Leu, NP_001308718.1:p.Gln828Leu, XP_011511561.2:p.Gln877Leu, XP_016862885.1:p.Gln833Leu, XP_016862886.1:p.Gln828Leu, XP_016862884.1:p.Gln871Leu, XP_011511559.1:p.Gln849Leu, XP_016862889.1:p.Gln784Leu, XP_016862887.1:p.Gln822Leu, XP_047305068.1:p.Gln849Leu, XP_047305072.1:p.Gln697Leu, XP_047305071.1:p.Gln697Leu, XP_047305074.1:p.Gln589Leu, XP_047305069.1:p.Gln877Leu, XP_047305070.1:p.Gln877Leu, XP_047305073.1:p.Gln805Leu

                  9.

                  rs1477268201 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    3:105693564 (GRCh38)
                    3:105412408 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:105693563:T:G
                    Gene:
                    CBLB (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    NC_000003.12:g.105693564T>G, NC_000003.11:g.105412408T>G, NG_055547.1:g.180989A>C, NM_170662.5:c.1984A>C, NM_170662.4:c.1984A>C, NM_170662.3:c.1984A>C, NR_135806.2:n.2407A>C, NR_135806.1:n.2438A>C, NM_001321807.2:c.1204A>C, NM_001321807.1:c.1204A>C, NR_135807.2:n.2323A>C, NR_135807.1:n.2354A>C, NM_001321822.2:c.655A>C, NM_001321822.1:c.655A>C, NR_135808.2:n.2275A>C, NR_135808.1:n.2306A>C, NM_001321820.2:c.796A>C, NM_001321820.1:c.796A>C, NR_135809.2:n.2389A>C, NR_135809.1:n.2420A>C, NR_135810.2:n.2063A>C, NR_135810.1:n.2084A>C, NM_001321793.2:c.1984A>C, NM_001321793.1:c.1984A>C, NM_001321795.2:c.1984A>C, NM_001321795.1:c.1984A>C, NR_135811.2:n.2099A>C, NR_135811.1:n.2130A>C, NM_001321808.2:c.1204A>C, NM_001321808.1:c.1204A>C, NM_001321788.2:c.1984A>C, NM_001321788.1:c.1984A>C, NM_001321799.2:c.1837A>C, NM_001321799.1:c.1837A>C, NM_001321798.2:c.1984A>C, NM_001321798.1:c.1984A>C, NM_001321811.2:c.1204A>C, NM_001321811.1:c.1204A>C, NM_001321791.2:c.1984A>C, NM_001321791.1:c.1984A>C, NM_001321796.2:c.1837A>C, NM_001321796.1:c.1837A>C, NM_001321794.2:c.1984A>C, NM_001321794.1:c.1984A>C, NM_001321806.2:c.1204A>C, NM_001321806.1:c.1204A>C, NM_001321790.2:c.2050A>C, NM_001321790.1:c.2050A>C, NM_001321816.2:c.1204A>C, NM_001321816.1:c.1204A>C, NM_001321797.2:c.1984A>C, NM_001321797.1:c.1984A>C, NM_001321786.1:c.2068A>C, NM_001321813.1:c.1204A>C, NR_135812.1:n.2026A>C, NM_001321789.1:c.2068A>C, XM_011513259.4:c.2068A>C, XM_011513259.3:c.2068A>C, XM_011513259.2:c.2068A>C, XM_011513259.1:c.1984A>C, XM_017007396.2:c.2068A>C, XM_017007396.1:c.2068A>C, XM_017007397.2:c.1921A>C, XM_017007397.1:c.1921A>C, XM_017007395.2:c.2050A>C, XM_017007395.1:c.2050A>C, XM_011513257.2:c.1984A>C, XM_011513257.1:c.1984A>C, XM_017007400.2:c.1921A>C, XM_017007400.1:c.1921A>C, XM_017007398.2:c.1903A>C, XM_017007398.1:c.1903A>C, XM_047449112.1:c.1984A>C, XM_047449116.1:c.1528A>C, XM_047449115.1:c.1528A>C, XM_047449118.1:c.1204A>C, NM_004351.1:c.1984A>C, XR_007095762.1:n.2211A>C, XR_007095761.1:n.2211A>C, XM_047449113.1:c.2068A>C, XM_047449114.1:c.2068A>C, XM_047449117.1:c.1984A>C, NP_733762.2:p.Ser662Arg, NP_001308736.1:p.Ser402Arg, NP_001308751.1:p.Ser219Arg, NP_001308749.1:p.Ser266Arg, NP_001308722.1:p.Ser662Arg, NP_001308724.1:p.Ser662Arg, NP_001308737.1:p.Ser402Arg, NP_001308717.1:p.Ser662Arg, NP_001308728.1:p.Ser613Arg, NP_001308727.1:p.Ser662Arg, NP_001308740.1:p.Ser402Arg, NP_001308720.1:p.Ser662Arg, NP_001308725.1:p.Ser613Arg, NP_001308723.1:p.Ser662Arg, NP_001308735.1:p.Ser402Arg, NP_001308719.1:p.Ser684Arg, NP_001308745.1:p.Ser402Arg, NP_001308726.1:p.Ser662Arg, NP_001308715.1:p.Ser690Arg, NP_001308742.1:p.Ser402Arg, NP_001308718.1:p.Ser690Arg, XP_011511561.2:p.Ser690Arg, XP_016862885.1:p.Ser690Arg, XP_016862886.1:p.Ser641Arg, XP_016862884.1:p.Ser684Arg, XP_011511559.1:p.Ser662Arg, XP_016862889.1:p.Ser641Arg, XP_016862887.1:p.Ser635Arg, XP_047305068.1:p.Ser662Arg, XP_047305072.1:p.Ser510Arg, XP_047305071.1:p.Ser510Arg, XP_047305074.1:p.Ser402Arg, XP_047305069.1:p.Ser690Arg, XP_047305070.1:p.Ser690Arg, XP_047305073.1:p.Ser662Arg

                    10.

                    rs1476818648 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      3:105702216 (GRCh38)
                      3:105421060 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:105702215:C:A
                      Gene:
                      CBLB (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000111/1 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000008/2 (GnomAD_exomes)
                      HGVS:
                      NC_000003.12:g.105702216C>A, NC_000003.11:g.105421060C>A, NG_055547.1:g.172337G>T, NM_170662.5:c.1837G>T, NM_170662.4:c.1837G>T, NM_170662.3:c.1837G>T, NR_135806.2:n.2260G>T, NR_135806.1:n.2291G>T, NM_001321807.2:c.1057G>T, NM_001321807.1:c.1057G>T, NR_135807.2:n.2176G>T, NR_135807.1:n.2207G>T, NM_001321822.2:c.508G>T, NM_001321822.1:c.508G>T, NR_135808.2:n.2128G>T, NR_135808.1:n.2159G>T, NM_001321820.2:c.649G>T, NM_001321820.1:c.649G>T, NR_135809.2:n.2242G>T, NR_135809.1:n.2273G>T, NR_135810.2:n.1916G>T, NR_135810.1:n.1937G>T, NM_001321793.2:c.1837G>T, NM_001321793.1:c.1837G>T, NM_001321795.2:c.1837G>T, NM_001321795.1:c.1837G>T, NR_135811.2:n.1952G>T, NR_135811.1:n.1983G>T, NM_001321808.2:c.1057G>T, NM_001321808.1:c.1057G>T, NM_001321788.2:c.1837G>T, NM_001321788.1:c.1837G>T, NM_001321799.2:c.1690G>T, NM_001321799.1:c.1690G>T, NM_001321798.2:c.1837G>T, NM_001321798.1:c.1837G>T, NM_001321811.2:c.1057G>T, NM_001321811.1:c.1057G>T, NM_001321791.2:c.1837G>T, NM_001321791.1:c.1837G>T, NM_001321796.2:c.1690G>T, NM_001321796.1:c.1690G>T, NM_001321794.2:c.1837G>T, NM_001321794.1:c.1837G>T, NM_001321806.2:c.1057G>T, NM_001321806.1:c.1057G>T, NM_001321790.2:c.1903G>T, NM_001321790.1:c.1903G>T, NM_001321816.2:c.1057G>T, NM_001321816.1:c.1057G>T, NM_001321797.2:c.1837G>T, NM_001321797.1:c.1837G>T, NM_001321786.1:c.1921G>T, NM_001321813.1:c.1057G>T, NR_135812.1:n.1879G>T, NM_001321789.1:c.1921G>T, XM_011513259.4:c.1921G>T, XM_011513259.3:c.1921G>T, XM_011513259.2:c.1921G>T, XM_011513259.1:c.1837G>T, XM_017007396.2:c.1921G>T, XM_017007396.1:c.1921G>T, XM_017007397.2:c.1774G>T, XM_017007397.1:c.1774G>T, XM_017007395.2:c.1903G>T, XM_017007395.1:c.1903G>T, XM_011513257.2:c.1837G>T, XM_011513257.1:c.1837G>T, XM_017007400.2:c.1774G>T, XM_017007400.1:c.1774G>T, XM_017007398.2:c.1756G>T, XM_017007398.1:c.1756G>T, XM_047449112.1:c.1837G>T, XM_047449116.1:c.1381G>T, XM_047449115.1:c.1381G>T, XM_047449118.1:c.1057G>T, NM_004351.1:c.1837G>T, XR_007095762.1:n.2064G>T, XR_007095761.1:n.2064G>T, XM_047449113.1:c.1921G>T, XM_047449114.1:c.1921G>T, XM_047449117.1:c.1837G>T, NP_733762.2:p.Gly613Cys, NP_001308736.1:p.Gly353Cys, NP_001308751.1:p.Gly170Cys, NP_001308749.1:p.Gly217Cys, NP_001308722.1:p.Gly613Cys, NP_001308724.1:p.Gly613Cys, NP_001308737.1:p.Gly353Cys, NP_001308717.1:p.Gly613Cys, NP_001308728.1:p.Gly564Cys, NP_001308727.1:p.Gly613Cys, NP_001308740.1:p.Gly353Cys, NP_001308720.1:p.Gly613Cys, NP_001308725.1:p.Gly564Cys, NP_001308723.1:p.Gly613Cys, NP_001308735.1:p.Gly353Cys, NP_001308719.1:p.Gly635Cys, NP_001308745.1:p.Gly353Cys, NP_001308726.1:p.Gly613Cys, NP_001308715.1:p.Gly641Cys, NP_001308742.1:p.Gly353Cys, NP_001308718.1:p.Gly641Cys, XP_011511561.2:p.Gly641Cys, XP_016862885.1:p.Gly641Cys, XP_016862886.1:p.Gly592Cys, XP_016862884.1:p.Gly635Cys, XP_011511559.1:p.Gly613Cys, XP_016862889.1:p.Gly592Cys, XP_016862887.1:p.Gly586Cys, XP_047305068.1:p.Gly613Cys, XP_047305072.1:p.Gly461Cys, XP_047305071.1:p.Gly461Cys, XP_047305074.1:p.Gly353Cys, XP_047305069.1:p.Gly641Cys, XP_047305070.1:p.Gly641Cys, XP_047305073.1:p.Gly613Cys

                      11.

                      rs1475193174 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        3:105659002 (GRCh38)
                        3:105377846 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:105659001:G:A
                        Gene:
                        CBLB (Varview)
                        Functional Consequence:
                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000003.12:g.105659002G>A, NC_000003.11:g.105377846G>A, NG_055547.1:g.215551C>T, NM_170662.5:c.2917C>T, NM_170662.4:c.2917C>T, NM_170662.3:c.2917C>T, NR_135806.2:n.3433C>T, NR_135806.1:n.3464C>T, NM_001321807.2:c.2137C>T, NM_001321807.1:c.2137C>T, NR_135807.2:n.3279C>T, NR_135807.1:n.3310C>T, NM_001321822.2:c.1588C>T, NM_001321822.1:c.1588C>T, NR_135808.2:n.3234C>T, NR_135808.1:n.3265C>T, NM_001321820.2:c.1597C>T, NM_001321820.1:c.1597C>T, NR_135809.2:n.3190C>T, NR_135809.1:n.3221C>T, NR_135810.2:n.3145C>T, NR_135810.1:n.3166C>T, NM_001321793.2:c.2785C>T, NM_001321793.1:c.2785C>T, NM_001321795.2:c.2770C>T, NM_001321795.1:c.2770C>T, NR_135811.2:n.3055C>T, NR_135811.1:n.3086C>T, NM_001321808.2:c.2005C>T, NM_001321808.1:c.2005C>T, NM_001321788.2:c.2917C>T, NM_001321788.1:c.2917C>T, NM_001321799.2:c.2638C>T, NM_001321799.1:c.2638C>T, NM_001321798.2:c.2638C>T, NM_001321798.1:c.2638C>T, NM_001321811.2:c.1990C>T, NM_001321811.1:c.1990C>T, NM_001321791.2:c.2785C>T, NM_001321791.1:c.2785C>T, NM_001321796.2:c.2770C>T, NM_001321796.1:c.2770C>T, NM_001321794.2:c.2770C>T, NM_001321794.1:c.2770C>T, NM_001321806.2:c.2137C>T, NM_001321806.1:c.2137C>T, NM_001321790.2:c.2851C>T, NM_001321790.1:c.2851C>T, NM_001321816.2:c.1858C>T, NM_001321816.1:c.1858C>T, NM_001321797.2:c.2638C>T, NM_001321797.1:c.2638C>T, NM_001321786.1:c.3001C>T, NM_001321813.1:c.1990C>T, NR_135812.1:n.2945C>T, NM_001321789.1:c.2854C>T, XM_017007396.2:c.2869C>T, XM_017007396.1:c.2869C>T, XM_017007397.2:c.2854C>T, XM_017007397.1:c.2854C>T, XM_017007395.2:c.2983C>T, XM_017007395.1:c.2983C>T, XM_011513257.2:c.2917C>T, XM_011513257.1:c.2917C>T, XM_017007400.2:c.2722C>T, XM_017007400.1:c.2722C>T, XM_017007398.2:c.2836C>T, XM_017007398.1:c.2836C>T, XM_047449112.1:c.2917C>T, XM_047449116.1:c.2461C>T, XM_047449115.1:c.2461C>T, XM_047449118.1:c.2137C>T, NP_733762.2:p.Pro973Ser, NP_001308736.1:p.Pro713Ser, NP_001308751.1:p.Pro530Ser, NP_001308749.1:p.Pro533Ser, NP_001308722.1:p.Pro929Ser, NP_001308724.1:p.Pro924Ser, NP_001308737.1:p.Pro669Ser, NP_001308717.1:p.Pro973Ser, NP_001308728.1:p.Pro880Ser, NP_001308727.1:p.Pro880Ser, NP_001308740.1:p.Pro664Ser, NP_001308720.1:p.Pro929Ser, NP_001308725.1:p.Pro924Ser, NP_001308723.1:p.Pro924Ser, NP_001308735.1:p.Pro713Ser, NP_001308719.1:p.Pro951Ser, NP_001308745.1:p.Pro620Ser, NP_001308726.1:p.Pro880Ser, NP_001308715.1:p.Pro1001Ser, NP_001308742.1:p.Pro664Ser, NP_001308718.1:p.Pro952Ser, XP_016862885.1:p.Pro957Ser, XP_016862886.1:p.Pro952Ser, XP_016862884.1:p.Pro995Ser, XP_011511559.1:p.Pro973Ser, XP_016862889.1:p.Pro908Ser, XP_016862887.1:p.Pro946Ser, XP_047305068.1:p.Pro973Ser, XP_047305072.1:p.Pro821Ser, XP_047305071.1:p.Pro821Ser, XP_047305074.1:p.Pro713Ser

                        12.

                        rs1472604572 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          3:105670257 (GRCh38)
                          3:105389101 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:105670256:A:T
                          Gene:
                          CBLB (Varview)
                          Functional Consequence:
                          coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000003.12:g.105670257A>T, NC_000003.11:g.105389101A>T, NG_055547.1:g.204296T>A, NM_170662.5:c.2665T>A, NM_170662.4:c.2665T>A, NM_170662.3:c.2665T>A, NR_135806.2:n.3181T>A, NR_135806.1:n.3212T>A, NM_001321807.2:c.1885T>A, NM_001321807.1:c.1885T>A, NR_135807.2:n.3027T>A, NR_135807.1:n.3058T>A, NM_001321822.2:c.1336T>A, NM_001321822.1:c.1336T>A, NR_135808.2:n.2982T>A, NR_135808.1:n.3013T>A, NM_001321820.2:c.1345T>A, NM_001321820.1:c.1345T>A, NR_135809.2:n.2938T>A, NR_135809.1:n.2969T>A, NR_135810.2:n.2893T>A, NR_135810.1:n.2914T>A, NM_001321793.2:c.2533T>A, NM_001321793.1:c.2533T>A, NM_001321795.2:c.2518T>A, NM_001321795.1:c.2518T>A, NR_135811.2:n.2803T>A, NR_135811.1:n.2834T>A, NM_001321808.2:c.1753T>A, NM_001321808.1:c.1753T>A, NM_001321788.2:c.2665T>A, NM_001321788.1:c.2665T>A, NM_001321799.2:c.2386T>A, NM_001321799.1:c.2386T>A, NM_001321798.2:c.2386T>A, NM_001321798.1:c.2386T>A, NM_001321811.2:c.1738T>A, NM_001321811.1:c.1738T>A, NM_001321791.2:c.2533T>A, NM_001321791.1:c.2533T>A, NM_001321796.2:c.2518T>A, NM_001321796.1:c.2518T>A, NM_001321794.2:c.2518T>A, NM_001321794.1:c.2518T>A, NM_001321806.2:c.1885T>A, NM_001321806.1:c.1885T>A, NM_001321790.2:c.2599T>A, NM_001321790.1:c.2599T>A, NM_001321816.2:c.1606T>A, NM_001321816.1:c.1606T>A, NM_001321797.2:c.2386T>A, NM_001321797.1:c.2386T>A, NM_001321786.1:c.2749T>A, NM_001321813.1:c.1738T>A, NR_135812.1:n.2693T>A, NM_001321789.1:c.2602T>A, XM_017007396.2:c.2617T>A, XM_017007396.1:c.2617T>A, XM_017007397.2:c.2602T>A, XM_017007397.1:c.2602T>A, XM_017007395.2:c.2731T>A, XM_017007395.1:c.2731T>A, XM_011513257.2:c.2665T>A, XM_011513257.1:c.2665T>A, XM_017007400.2:c.2470T>A, XM_017007400.1:c.2470T>A, XM_017007398.2:c.2584T>A, XM_017007398.1:c.2584T>A, XM_047449112.1:c.2665T>A, XM_047449116.1:c.2209T>A, XM_047449115.1:c.2209T>A, XM_047449118.1:c.1885T>A, NP_733762.2:p.Tyr889Asn, NP_001308736.1:p.Tyr629Asn, NP_001308751.1:p.Tyr446Asn, NP_001308749.1:p.Tyr449Asn, NP_001308722.1:p.Tyr845Asn, NP_001308724.1:p.Tyr840Asn, NP_001308737.1:p.Tyr585Asn, NP_001308717.1:p.Tyr889Asn, NP_001308728.1:p.Tyr796Asn, NP_001308727.1:p.Tyr796Asn, NP_001308740.1:p.Tyr580Asn, NP_001308720.1:p.Tyr845Asn, NP_001308725.1:p.Tyr840Asn, NP_001308723.1:p.Tyr840Asn, NP_001308735.1:p.Tyr629Asn, NP_001308719.1:p.Tyr867Asn, NP_001308745.1:p.Tyr536Asn, NP_001308726.1:p.Tyr796Asn, NP_001308715.1:p.Tyr917Asn, NP_001308742.1:p.Tyr580Asn, NP_001308718.1:p.Tyr868Asn, XP_016862885.1:p.Tyr873Asn, XP_016862886.1:p.Tyr868Asn, XP_016862884.1:p.Tyr911Asn, XP_011511559.1:p.Tyr889Asn, XP_016862889.1:p.Tyr824Asn, XP_016862887.1:p.Tyr862Asn, XP_047305068.1:p.Tyr889Asn, XP_047305072.1:p.Tyr737Asn, XP_047305071.1:p.Tyr737Asn, XP_047305074.1:p.Tyr629Asn

                          13.

                          rs1471868957 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            3:105659178 (GRCh38)
                            3:105378022 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:105659177:G:A,NC_000003.12:105659177:G:T
                            Gene:
                            CBLB (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000003.12:g.105659178G>A, NC_000003.12:g.105659178G>T, NC_000003.11:g.105378022G>A, NC_000003.11:g.105378022G>T, NG_055547.1:g.215375C>T, NG_055547.1:g.215375C>A, NM_170662.5:c.2741C>T, NM_170662.5:c.2741C>A, NM_170662.4:c.2741C>T, NM_170662.4:c.2741C>A, NM_170662.3:c.2741C>T, NM_170662.3:c.2741C>A, NR_135806.2:n.3257C>T, NR_135806.2:n.3257C>A, NR_135806.1:n.3288C>T, NR_135806.1:n.3288C>A, NM_001321807.2:c.1961C>T, NM_001321807.2:c.1961C>A, NM_001321807.1:c.1961C>T, NM_001321807.1:c.1961C>A, NR_135807.2:n.3103C>T, NR_135807.2:n.3103C>A, NR_135807.1:n.3134C>T, NR_135807.1:n.3134C>A, NM_001321822.2:c.1412C>T, NM_001321822.2:c.1412C>A, NM_001321822.1:c.1412C>T, NM_001321822.1:c.1412C>A, NR_135808.2:n.3058C>T, NR_135808.2:n.3058C>A, NR_135808.1:n.3089C>T, NR_135808.1:n.3089C>A, NM_001321820.2:c.1421C>T, NM_001321820.2:c.1421C>A, NM_001321820.1:c.1421C>T, NM_001321820.1:c.1421C>A, NR_135809.2:n.3014C>T, NR_135809.2:n.3014C>A, NR_135809.1:n.3045C>T, NR_135809.1:n.3045C>A, NR_135810.2:n.2969C>T, NR_135810.2:n.2969C>A, NR_135810.1:n.2990C>T, NR_135810.1:n.2990C>A, NM_001321793.2:c.2609C>T, NM_001321793.2:c.2609C>A, NM_001321793.1:c.2609C>T, NM_001321793.1:c.2609C>A, NM_001321795.2:c.2594C>T, NM_001321795.2:c.2594C>A, NM_001321795.1:c.2594C>T, NM_001321795.1:c.2594C>A, NR_135811.2:n.2879C>T, NR_135811.2:n.2879C>A, NR_135811.1:n.2910C>T, NR_135811.1:n.2910C>A, NM_001321808.2:c.1829C>T, NM_001321808.2:c.1829C>A, NM_001321808.1:c.1829C>T, NM_001321808.1:c.1829C>A, NM_001321788.2:c.2741C>T, NM_001321788.2:c.2741C>A, NM_001321788.1:c.2741C>T, NM_001321788.1:c.2741C>A, NM_001321799.2:c.2462C>T, NM_001321799.2:c.2462C>A, NM_001321799.1:c.2462C>T, NM_001321799.1:c.2462C>A, NM_001321798.2:c.2462C>T, NM_001321798.2:c.2462C>A, NM_001321798.1:c.2462C>T, NM_001321798.1:c.2462C>A, NM_001321811.2:c.1814C>T, NM_001321811.2:c.1814C>A, NM_001321811.1:c.1814C>T, NM_001321811.1:c.1814C>A, NM_001321791.2:c.2609C>T, NM_001321791.2:c.2609C>A, NM_001321791.1:c.2609C>T, NM_001321791.1:c.2609C>A, NM_001321796.2:c.2594C>T, NM_001321796.2:c.2594C>A, NM_001321796.1:c.2594C>T, NM_001321796.1:c.2594C>A, NM_001321794.2:c.2594C>T, NM_001321794.2:c.2594C>A, NM_001321794.1:c.2594C>T, NM_001321794.1:c.2594C>A, NM_001321806.2:c.1961C>T, NM_001321806.2:c.1961C>A, NM_001321806.1:c.1961C>T, NM_001321806.1:c.1961C>A, NM_001321790.2:c.2675C>T, NM_001321790.2:c.2675C>A, NM_001321790.1:c.2675C>T, NM_001321790.1:c.2675C>A, NM_001321816.2:c.1682C>T, NM_001321816.2:c.1682C>A, NM_001321816.1:c.1682C>T, NM_001321816.1:c.1682C>A, NM_001321797.2:c.2462C>T, NM_001321797.2:c.2462C>A, NM_001321797.1:c.2462C>T, NM_001321797.1:c.2462C>A, NM_001321786.1:c.2825C>T, NM_001321786.1:c.2825C>A, NM_001321813.1:c.1814C>T, NM_001321813.1:c.1814C>A, NR_135812.1:n.2769C>T, NR_135812.1:n.2769C>A, NM_001321789.1:c.2678C>T, NM_001321789.1:c.2678C>A, XM_017007396.2:c.2693C>T, XM_017007396.2:c.2693C>A, XM_017007396.1:c.2693C>T, XM_017007396.1:c.2693C>A, XM_017007397.2:c.2678C>T, XM_017007397.2:c.2678C>A, XM_017007397.1:c.2678C>T, XM_017007397.1:c.2678C>A, XM_017007395.2:c.2807C>T, XM_017007395.2:c.2807C>A, XM_017007395.1:c.2807C>T, XM_017007395.1:c.2807C>A, XM_011513257.2:c.2741C>T, XM_011513257.2:c.2741C>A, XM_011513257.1:c.2741C>T, XM_011513257.1:c.2741C>A, XM_017007400.2:c.2546C>T, XM_017007400.2:c.2546C>A, XM_017007400.1:c.2546C>T, XM_017007400.1:c.2546C>A, XM_017007398.2:c.2660C>T, XM_017007398.2:c.2660C>A, XM_017007398.1:c.2660C>T, XM_017007398.1:c.2660C>A, XM_047449112.1:c.2741C>T, XM_047449112.1:c.2741C>A, XM_047449116.1:c.2285C>T, XM_047449116.1:c.2285C>A, XM_047449115.1:c.2285C>T, XM_047449115.1:c.2285C>A, XM_047449118.1:c.1961C>T, XM_047449118.1:c.1961C>A, NP_733762.2:p.Ala914Val, NP_733762.2:p.Ala914Glu, NP_001308736.1:p.Ala654Val, NP_001308736.1:p.Ala654Glu, NP_001308751.1:p.Ala471Val, NP_001308751.1:p.Ala471Glu, NP_001308749.1:p.Ala474Val, NP_001308749.1:p.Ala474Glu, NP_001308722.1:p.Ala870Val, NP_001308722.1:p.Ala870Glu, NP_001308724.1:p.Ala865Val, NP_001308724.1:p.Ala865Glu, NP_001308737.1:p.Ala610Val, NP_001308737.1:p.Ala610Glu, NP_001308717.1:p.Ala914Val, NP_001308717.1:p.Ala914Glu, NP_001308728.1:p.Ala821Val, NP_001308728.1:p.Ala821Glu, NP_001308727.1:p.Ala821Val, NP_001308727.1:p.Ala821Glu, NP_001308740.1:p.Ala605Val, NP_001308740.1:p.Ala605Glu, NP_001308720.1:p.Ala870Val, NP_001308720.1:p.Ala870Glu, NP_001308725.1:p.Ala865Val, NP_001308725.1:p.Ala865Glu, NP_001308723.1:p.Ala865Val, NP_001308723.1:p.Ala865Glu, NP_001308735.1:p.Ala654Val, NP_001308735.1:p.Ala654Glu, NP_001308719.1:p.Ala892Val, NP_001308719.1:p.Ala892Glu, NP_001308745.1:p.Ala561Val, NP_001308745.1:p.Ala561Glu, NP_001308726.1:p.Ala821Val, NP_001308726.1:p.Ala821Glu, NP_001308715.1:p.Ala942Val, NP_001308715.1:p.Ala942Glu, NP_001308742.1:p.Ala605Val, NP_001308742.1:p.Ala605Glu, NP_001308718.1:p.Ala893Val, NP_001308718.1:p.Ala893Glu, XP_016862885.1:p.Ala898Val, XP_016862885.1:p.Ala898Glu, XP_016862886.1:p.Ala893Val, XP_016862886.1:p.Ala893Glu, XP_016862884.1:p.Ala936Val, XP_016862884.1:p.Ala936Glu, XP_011511559.1:p.Ala914Val, XP_011511559.1:p.Ala914Glu, XP_016862889.1:p.Ala849Val, XP_016862889.1:p.Ala849Glu, XP_016862887.1:p.Ala887Val, XP_016862887.1:p.Ala887Glu, XP_047305068.1:p.Ala914Val, XP_047305068.1:p.Ala914Glu, XP_047305072.1:p.Ala762Val, XP_047305072.1:p.Ala762Glu, XP_047305071.1:p.Ala762Val, XP_047305071.1:p.Ala762Glu, XP_047305074.1:p.Ala654Val, XP_047305074.1:p.Ala654Glu

                            14.

                            rs1467467666 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              3:105704168 (GRCh38)
                              3:105423012 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:105704167:A:C
                              Gene:
                              CBLB (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              C=0.000008/2 (GnomAD_exomes)
                              HGVS:
                              NC_000003.12:g.105704168A>C, NC_000003.11:g.105423012A>C, NG_055547.1:g.170385T>G, NM_170662.5:c.1413T>G, NM_170662.4:c.1413T>G, NM_170662.3:c.1413T>G, NR_135806.2:n.1836T>G, NR_135806.1:n.1867T>G, NM_001321807.2:c.633T>G, NM_001321807.1:c.633T>G, NR_135807.2:n.1752T>G, NR_135807.1:n.1783T>G, NM_001321822.2:c.84T>G, NM_001321822.1:c.84T>G, NR_135808.2:n.1704T>G, NR_135808.1:n.1735T>G, NM_001321820.2:c.225T>G, NM_001321820.1:c.225T>G, NR_135809.2:n.1818T>G, NR_135809.1:n.1849T>G, NR_135810.2:n.1492T>G, NR_135810.1:n.1513T>G, NM_001321793.2:c.1413T>G, NM_001321793.1:c.1413T>G, NM_001321795.2:c.1413T>G, NM_001321795.1:c.1413T>G, NR_135811.2:n.1528T>G, NR_135811.1:n.1559T>G, NM_001321808.2:c.633T>G, NM_001321808.1:c.633T>G, NM_001321788.2:c.1413T>G, NM_001321788.1:c.1413T>G, NM_001321799.2:c.1266T>G, NM_001321799.1:c.1266T>G, NM_001321798.2:c.1413T>G, NM_001321798.1:c.1413T>G, NM_001321811.2:c.633T>G, NM_001321811.1:c.633T>G, NM_001321791.2:c.1413T>G, NM_001321791.1:c.1413T>G, NM_001321796.2:c.1266T>G, NM_001321796.1:c.1266T>G, NM_001321794.2:c.1413T>G, NM_001321794.1:c.1413T>G, NM_001321806.2:c.633T>G, NM_001321806.1:c.633T>G, NM_001321790.2:c.1479T>G, NM_001321790.1:c.1479T>G, NM_001321816.2:c.633T>G, NM_001321816.1:c.633T>G, NM_001321797.2:c.1413T>G, NM_001321797.1:c.1413T>G, NM_001321786.1:c.1497T>G, NM_001321813.1:c.633T>G, NR_135812.1:n.1455T>G, NM_001321789.1:c.1497T>G, XM_011513259.4:c.1497T>G, XM_011513259.3:c.1497T>G, XM_011513259.2:c.1497T>G, XM_011513259.1:c.1413T>G, XM_017007396.2:c.1497T>G, XM_017007396.1:c.1497T>G, XM_017007397.2:c.1350T>G, XM_017007397.1:c.1350T>G, XM_017007395.2:c.1479T>G, XM_017007395.1:c.1479T>G, XM_011513257.2:c.1413T>G, XM_011513257.1:c.1413T>G, XM_017007400.2:c.1350T>G, XM_017007400.1:c.1350T>G, XM_017007398.2:c.1332T>G, XM_017007398.1:c.1332T>G, XM_047449112.1:c.1413T>G, XM_047449116.1:c.957T>G, XM_047449115.1:c.957T>G, XM_047449118.1:c.633T>G, NM_004351.1:c.1413T>G, XR_007095762.1:n.1640T>G, XR_007095761.1:n.1640T>G, XM_047449113.1:c.1497T>G, XM_047449114.1:c.1497T>G, XM_047449117.1:c.1413T>G

                              15.

                              rs1467429414 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                3:105702318 (GRCh38)
                                3:105421162 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:105702317:C:T
                                Gene:
                                CBLB (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0.000071/1 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000003.12:g.105702318C>T, NC_000003.11:g.105421162C>T, NG_055547.1:g.172235G>A, NM_170662.5:c.1735G>A, NM_170662.4:c.1735G>A, NM_170662.3:c.1735G>A, NR_135806.2:n.2158G>A, NR_135806.1:n.2189G>A, NM_001321807.2:c.955G>A, NM_001321807.1:c.955G>A, NR_135807.2:n.2074G>A, NR_135807.1:n.2105G>A, NM_001321822.2:c.406G>A, NM_001321822.1:c.406G>A, NR_135808.2:n.2026G>A, NR_135808.1:n.2057G>A, NM_001321820.2:c.547G>A, NM_001321820.1:c.547G>A, NR_135809.2:n.2140G>A, NR_135809.1:n.2171G>A, NR_135810.2:n.1814G>A, NR_135810.1:n.1835G>A, NM_001321793.2:c.1735G>A, NM_001321793.1:c.1735G>A, NM_001321795.2:c.1735G>A, NM_001321795.1:c.1735G>A, NR_135811.2:n.1850G>A, NR_135811.1:n.1881G>A, NM_001321808.2:c.955G>A, NM_001321808.1:c.955G>A, NM_001321788.2:c.1735G>A, NM_001321788.1:c.1735G>A, NM_001321799.2:c.1588G>A, NM_001321799.1:c.1588G>A, NM_001321798.2:c.1735G>A, NM_001321798.1:c.1735G>A, NM_001321811.2:c.955G>A, NM_001321811.1:c.955G>A, NM_001321791.2:c.1735G>A, NM_001321791.1:c.1735G>A, NM_001321796.2:c.1588G>A, NM_001321796.1:c.1588G>A, NM_001321794.2:c.1735G>A, NM_001321794.1:c.1735G>A, NM_001321806.2:c.955G>A, NM_001321806.1:c.955G>A, NM_001321790.2:c.1801G>A, NM_001321790.1:c.1801G>A, NM_001321816.2:c.955G>A, NM_001321816.1:c.955G>A, NM_001321797.2:c.1735G>A, NM_001321797.1:c.1735G>A, NM_001321786.1:c.1819G>A, NM_001321813.1:c.955G>A, NR_135812.1:n.1777G>A, NM_001321789.1:c.1819G>A, XM_011513259.4:c.1819G>A, XM_011513259.3:c.1819G>A, XM_011513259.2:c.1819G>A, XM_011513259.1:c.1735G>A, XM_017007396.2:c.1819G>A, XM_017007396.1:c.1819G>A, XM_017007397.2:c.1672G>A, XM_017007397.1:c.1672G>A, XM_017007395.2:c.1801G>A, XM_017007395.1:c.1801G>A, XM_011513257.2:c.1735G>A, XM_011513257.1:c.1735G>A, XM_017007400.2:c.1672G>A, XM_017007400.1:c.1672G>A, XM_017007398.2:c.1654G>A, XM_017007398.1:c.1654G>A, XM_047449112.1:c.1735G>A, XM_047449116.1:c.1279G>A, XM_047449115.1:c.1279G>A, XM_047449118.1:c.955G>A, NM_004351.1:c.1735G>A, XR_007095762.1:n.1962G>A, XR_007095761.1:n.1962G>A, XM_047449113.1:c.1819G>A, XM_047449114.1:c.1819G>A, XM_047449117.1:c.1735G>A, NP_733762.2:p.Glu579Lys, NP_001308736.1:p.Glu319Lys, NP_001308751.1:p.Glu136Lys, NP_001308749.1:p.Glu183Lys, NP_001308722.1:p.Glu579Lys, NP_001308724.1:p.Glu579Lys, NP_001308737.1:p.Glu319Lys, NP_001308717.1:p.Glu579Lys, NP_001308728.1:p.Glu530Lys, NP_001308727.1:p.Glu579Lys, NP_001308740.1:p.Glu319Lys, NP_001308720.1:p.Glu579Lys, NP_001308725.1:p.Glu530Lys, NP_001308723.1:p.Glu579Lys, NP_001308735.1:p.Glu319Lys, NP_001308719.1:p.Glu601Lys, NP_001308745.1:p.Glu319Lys, NP_001308726.1:p.Glu579Lys, NP_001308715.1:p.Glu607Lys, NP_001308742.1:p.Glu319Lys, NP_001308718.1:p.Glu607Lys, XP_011511561.2:p.Glu607Lys, XP_016862885.1:p.Glu607Lys, XP_016862886.1:p.Glu558Lys, XP_016862884.1:p.Glu601Lys, XP_011511559.1:p.Glu579Lys, XP_016862889.1:p.Glu558Lys, XP_016862887.1:p.Glu552Lys, XP_047305068.1:p.Glu579Lys, XP_047305072.1:p.Glu427Lys, XP_047305071.1:p.Glu427Lys, XP_047305074.1:p.Glu319Lys, XP_047305069.1:p.Glu607Lys, XP_047305070.1:p.Glu607Lys, XP_047305073.1:p.Glu579Lys

                                16.

                                rs1466516167 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  3:105702436 (GRCh38)
                                  3:105421280 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:105702435:T:C
                                  Gene:
                                  CBLB (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000003.12:g.105702436T>C, NC_000003.11:g.105421280T>C, NG_055547.1:g.172117A>G, NM_170662.5:c.1617A>G, NM_170662.4:c.1617A>G, NM_170662.3:c.1617A>G, NR_135806.2:n.2040A>G, NR_135806.1:n.2071A>G, NM_001321807.2:c.837A>G, NM_001321807.1:c.837A>G, NR_135807.2:n.1956A>G, NR_135807.1:n.1987A>G, NM_001321822.2:c.288A>G, NM_001321822.1:c.288A>G, NR_135808.2:n.1908A>G, NR_135808.1:n.1939A>G, NM_001321820.2:c.429A>G, NM_001321820.1:c.429A>G, NR_135809.2:n.2022A>G, NR_135809.1:n.2053A>G, NR_135810.2:n.1696A>G, NR_135810.1:n.1717A>G, NM_001321793.2:c.1617A>G, NM_001321793.1:c.1617A>G, NM_001321795.2:c.1617A>G, NM_001321795.1:c.1617A>G, NR_135811.2:n.1732A>G, NR_135811.1:n.1763A>G, NM_001321808.2:c.837A>G, NM_001321808.1:c.837A>G, NM_001321788.2:c.1617A>G, NM_001321788.1:c.1617A>G, NM_001321799.2:c.1470A>G, NM_001321799.1:c.1470A>G, NM_001321798.2:c.1617A>G, NM_001321798.1:c.1617A>G, NM_001321811.2:c.837A>G, NM_001321811.1:c.837A>G, NM_001321791.2:c.1617A>G, NM_001321791.1:c.1617A>G, NM_001321796.2:c.1470A>G, NM_001321796.1:c.1470A>G, NM_001321794.2:c.1617A>G, NM_001321794.1:c.1617A>G, NM_001321806.2:c.837A>G, NM_001321806.1:c.837A>G, NM_001321790.2:c.1683A>G, NM_001321790.1:c.1683A>G, NM_001321816.2:c.837A>G, NM_001321816.1:c.837A>G, NM_001321797.2:c.1617A>G, NM_001321797.1:c.1617A>G, NM_001321786.1:c.1701A>G, NM_001321813.1:c.837A>G, NR_135812.1:n.1659A>G, NM_001321789.1:c.1701A>G, XM_011513259.4:c.1701A>G, XM_011513259.3:c.1701A>G, XM_011513259.2:c.1701A>G, XM_011513259.1:c.1617A>G, XM_017007396.2:c.1701A>G, XM_017007396.1:c.1701A>G, XM_017007397.2:c.1554A>G, XM_017007397.1:c.1554A>G, XM_017007395.2:c.1683A>G, XM_017007395.1:c.1683A>G, XM_011513257.2:c.1617A>G, XM_011513257.1:c.1617A>G, XM_017007400.2:c.1554A>G, XM_017007400.1:c.1554A>G, XM_017007398.2:c.1536A>G, XM_017007398.1:c.1536A>G, XM_047449112.1:c.1617A>G, XM_047449116.1:c.1161A>G, XM_047449115.1:c.1161A>G, XM_047449118.1:c.837A>G, NM_004351.1:c.1617A>G, XR_007095762.1:n.1844A>G, XR_007095761.1:n.1844A>G, XM_047449113.1:c.1701A>G, XM_047449114.1:c.1701A>G, XM_047449117.1:c.1617A>G

                                  17.

                                  rs1464431641 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    3:105681764 (GRCh38)
                                    3:105400608 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:105681763:C:G
                                    Gene:
                                    CBLB (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000003.12:g.105681764C>G, NC_000003.11:g.105400608C>G, NG_055547.1:g.192789G>C, NM_170662.5:c.2256G>C, NM_170662.4:c.2256G>C, NM_170662.3:c.2256G>C, NR_135806.2:n.2679G>C, NR_135806.1:n.2710G>C, NM_001321807.2:c.1476G>C, NM_001321807.1:c.1476G>C, NR_135807.2:n.2595G>C, NR_135807.1:n.2626G>C, NM_001321822.2:c.927G>C, NM_001321822.1:c.927G>C, NR_135808.2:n.2547G>C, NR_135808.1:n.2578G>C, NM_001321820.2:c.1068G>C, NM_001321820.1:c.1068G>C, NR_135809.2:n.2661G>C, NR_135809.1:n.2692G>C, NR_135810.2:n.2335G>C, NR_135810.1:n.2356G>C, NM_001321793.2:c.2256G>C, NM_001321793.1:c.2256G>C, NM_001321795.2:c.2109G>C, NM_001321795.1:c.2109G>C, NR_135811.2:n.2371G>C, NR_135811.1:n.2402G>C, NM_001321808.2:c.1476G>C, NM_001321808.1:c.1476G>C, NM_001321788.2:c.2256G>C, NM_001321788.1:c.2256G>C, NM_001321799.2:c.2109G>C, NM_001321799.1:c.2109G>C, NM_001321798.2:c.2109G>C, NM_001321798.1:c.2109G>C, NM_001321811.2:c.1329G>C, NM_001321811.1:c.1329G>C, NM_001321791.2:c.2256G>C, NM_001321791.1:c.2256G>C, NM_001321796.2:c.2109G>C, NM_001321796.1:c.2109G>C, NM_001321794.2:c.2109G>C, NM_001321794.1:c.2109G>C, NM_001321806.2:c.1476G>C, NM_001321806.1:c.1476G>C, NM_001321790.2:c.2322G>C, NM_001321790.1:c.2322G>C, NM_001321816.2:c.1329G>C, NM_001321816.1:c.1329G>C, NM_001321797.2:c.2109G>C, NM_001321797.1:c.2109G>C, NM_001321786.1:c.2340G>C, NM_001321813.1:c.1329G>C, NR_135812.1:n.2298G>C, NM_001321789.1:c.2193G>C, XM_011513259.4:c.2340G>C, XM_011513259.3:c.2340G>C, XM_011513259.2:c.2340G>C, XM_011513259.1:c.2256G>C, XM_017007396.2:c.2340G>C, XM_017007396.1:c.2340G>C, XM_017007397.2:c.2193G>C, XM_017007397.1:c.2193G>C, XM_017007395.2:c.2322G>C, XM_017007395.1:c.2322G>C, XM_011513257.2:c.2256G>C, XM_011513257.1:c.2256G>C, XM_017007400.2:c.2193G>C, XM_017007400.1:c.2193G>C, XM_017007398.2:c.2175G>C, XM_017007398.1:c.2175G>C, XM_047449112.1:c.2256G>C, XM_047449116.1:c.1800G>C, XM_047449115.1:c.1800G>C, XM_047449118.1:c.1476G>C, NM_004351.1:c.2256G>C, XR_007095762.1:n.2483G>C, XR_007095761.1:n.2483G>C, XM_047449113.1:c.2340G>C, XM_047449114.1:c.2340G>C, XM_047449117.1:c.2256G>C, NP_733762.2:p.Glu752Asp, NP_001308736.1:p.Glu492Asp, NP_001308751.1:p.Glu309Asp, NP_001308749.1:p.Glu356Asp, NP_001308722.1:p.Glu752Asp, NP_001308724.1:p.Glu703Asp, NP_001308737.1:p.Glu492Asp, NP_001308717.1:p.Glu752Asp, NP_001308728.1:p.Glu703Asp, NP_001308727.1:p.Glu703Asp, NP_001308740.1:p.Glu443Asp, NP_001308720.1:p.Glu752Asp, NP_001308725.1:p.Glu703Asp, NP_001308723.1:p.Glu703Asp, NP_001308735.1:p.Glu492Asp, NP_001308719.1:p.Glu774Asp, NP_001308745.1:p.Glu443Asp, NP_001308726.1:p.Glu703Asp, NP_001308715.1:p.Glu780Asp, NP_001308742.1:p.Glu443Asp, NP_001308718.1:p.Glu731Asp, XP_011511561.2:p.Glu780Asp, XP_016862885.1:p.Glu780Asp, XP_016862886.1:p.Glu731Asp, XP_016862884.1:p.Glu774Asp, XP_011511559.1:p.Glu752Asp, XP_016862889.1:p.Glu731Asp, XP_016862887.1:p.Glu725Asp, XP_047305068.1:p.Glu752Asp, XP_047305072.1:p.Glu600Asp, XP_047305071.1:p.Glu600Asp, XP_047305074.1:p.Glu492Asp, XP_047305069.1:p.Glu780Asp, XP_047305070.1:p.Glu780Asp, XP_047305073.1:p.Glu752Asp

                                    18.

                                    rs1459902683 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      3:105702367 (GRCh38)
                                      3:105421211 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:105702366:A:G
                                      Gene:
                                      CBLB (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000043/1 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000016/4 (GnomAD_exomes)
                                      HGVS:
                                      NC_000003.12:g.105702367A>G, NC_000003.11:g.105421211A>G, NG_055547.1:g.172186T>C, NM_170662.5:c.1686T>C, NM_170662.4:c.1686T>C, NM_170662.3:c.1686T>C, NR_135806.2:n.2109T>C, NR_135806.1:n.2140T>C, NM_001321807.2:c.906T>C, NM_001321807.1:c.906T>C, NR_135807.2:n.2025T>C, NR_135807.1:n.2056T>C, NM_001321822.2:c.357T>C, NM_001321822.1:c.357T>C, NR_135808.2:n.1977T>C, NR_135808.1:n.2008T>C, NM_001321820.2:c.498T>C, NM_001321820.1:c.498T>C, NR_135809.2:n.2091T>C, NR_135809.1:n.2122T>C, NR_135810.2:n.1765T>C, NR_135810.1:n.1786T>C, NM_001321793.2:c.1686T>C, NM_001321793.1:c.1686T>C, NM_001321795.2:c.1686T>C, NM_001321795.1:c.1686T>C, NR_135811.2:n.1801T>C, NR_135811.1:n.1832T>C, NM_001321808.2:c.906T>C, NM_001321808.1:c.906T>C, NM_001321788.2:c.1686T>C, NM_001321788.1:c.1686T>C, NM_001321799.2:c.1539T>C, NM_001321799.1:c.1539T>C, NM_001321798.2:c.1686T>C, NM_001321798.1:c.1686T>C, NM_001321811.2:c.906T>C, NM_001321811.1:c.906T>C, NM_001321791.2:c.1686T>C, NM_001321791.1:c.1686T>C, NM_001321796.2:c.1539T>C, NM_001321796.1:c.1539T>C, NM_001321794.2:c.1686T>C, NM_001321794.1:c.1686T>C, NM_001321806.2:c.906T>C, NM_001321806.1:c.906T>C, NM_001321790.2:c.1752T>C, NM_001321790.1:c.1752T>C, NM_001321816.2:c.906T>C, NM_001321816.1:c.906T>C, NM_001321797.2:c.1686T>C, NM_001321797.1:c.1686T>C, NM_001321786.1:c.1770T>C, NM_001321813.1:c.906T>C, NR_135812.1:n.1728T>C, NM_001321789.1:c.1770T>C, XM_011513259.4:c.1770T>C, XM_011513259.3:c.1770T>C, XM_011513259.2:c.1770T>C, XM_011513259.1:c.1686T>C, XM_017007396.2:c.1770T>C, XM_017007396.1:c.1770T>C, XM_017007397.2:c.1623T>C, XM_017007397.1:c.1623T>C, XM_017007395.2:c.1752T>C, XM_017007395.1:c.1752T>C, XM_011513257.2:c.1686T>C, XM_011513257.1:c.1686T>C, XM_017007400.2:c.1623T>C, XM_017007400.1:c.1623T>C, XM_017007398.2:c.1605T>C, XM_017007398.1:c.1605T>C, XM_047449112.1:c.1686T>C, XM_047449116.1:c.1230T>C, XM_047449115.1:c.1230T>C, XM_047449118.1:c.906T>C, NM_004351.1:c.1686T>C, XR_007095762.1:n.1913T>C, XR_007095761.1:n.1913T>C, XM_047449113.1:c.1770T>C, XM_047449114.1:c.1770T>C, XM_047449117.1:c.1686T>C

                                      19.

                                      rs1452921687 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        3:105702414 (GRCh38)
                                        3:105421258 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:105702413:G:A
                                        Gene:
                                        CBLB (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000003.12:g.105702414G>A, NC_000003.11:g.105421258G>A, NG_055547.1:g.172139C>T, NM_170662.5:c.1639C>T, NM_170662.4:c.1639C>T, NM_170662.3:c.1639C>T, NR_135806.2:n.2062C>T, NR_135806.1:n.2093C>T, NM_001321807.2:c.859C>T, NM_001321807.1:c.859C>T, NR_135807.2:n.1978C>T, NR_135807.1:n.2009C>T, NM_001321822.2:c.310C>T, NM_001321822.1:c.310C>T, NR_135808.2:n.1930C>T, NR_135808.1:n.1961C>T, NM_001321820.2:c.451C>T, NM_001321820.1:c.451C>T, NR_135809.2:n.2044C>T, NR_135809.1:n.2075C>T, NR_135810.2:n.1718C>T, NR_135810.1:n.1739C>T, NM_001321793.2:c.1639C>T, NM_001321793.1:c.1639C>T, NM_001321795.2:c.1639C>T, NM_001321795.1:c.1639C>T, NR_135811.2:n.1754C>T, NR_135811.1:n.1785C>T, NM_001321808.2:c.859C>T, NM_001321808.1:c.859C>T, NM_001321788.2:c.1639C>T, NM_001321788.1:c.1639C>T, NM_001321799.2:c.1492C>T, NM_001321799.1:c.1492C>T, NM_001321798.2:c.1639C>T, NM_001321798.1:c.1639C>T, NM_001321811.2:c.859C>T, NM_001321811.1:c.859C>T, NM_001321791.2:c.1639C>T, NM_001321791.1:c.1639C>T, NM_001321796.2:c.1492C>T, NM_001321796.1:c.1492C>T, NM_001321794.2:c.1639C>T, NM_001321794.1:c.1639C>T, NM_001321806.2:c.859C>T, NM_001321806.1:c.859C>T, NM_001321790.2:c.1705C>T, NM_001321790.1:c.1705C>T, NM_001321816.2:c.859C>T, NM_001321816.1:c.859C>T, NM_001321797.2:c.1639C>T, NM_001321797.1:c.1639C>T, NM_001321786.1:c.1723C>T, NM_001321813.1:c.859C>T, NR_135812.1:n.1681C>T, NM_001321789.1:c.1723C>T, XM_011513259.4:c.1723C>T, XM_011513259.3:c.1723C>T, XM_011513259.2:c.1723C>T, XM_011513259.1:c.1639C>T, XM_017007396.2:c.1723C>T, XM_017007396.1:c.1723C>T, XM_017007397.2:c.1576C>T, XM_017007397.1:c.1576C>T, XM_017007395.2:c.1705C>T, XM_017007395.1:c.1705C>T, XM_011513257.2:c.1639C>T, XM_011513257.1:c.1639C>T, XM_017007400.2:c.1576C>T, XM_017007400.1:c.1576C>T, XM_017007398.2:c.1558C>T, XM_017007398.1:c.1558C>T, XM_047449112.1:c.1639C>T, XM_047449116.1:c.1183C>T, XM_047449115.1:c.1183C>T, XM_047449118.1:c.859C>T, NM_004351.1:c.1639C>T, XR_007095762.1:n.1866C>T, XR_007095761.1:n.1866C>T, XM_047449113.1:c.1723C>T, XM_047449114.1:c.1723C>T, XM_047449117.1:c.1639C>T, NP_733762.2:p.Pro547Ser, NP_001308736.1:p.Pro287Ser, NP_001308751.1:p.Pro104Ser, NP_001308749.1:p.Pro151Ser, NP_001308722.1:p.Pro547Ser, NP_001308724.1:p.Pro547Ser, NP_001308737.1:p.Pro287Ser, NP_001308717.1:p.Pro547Ser, NP_001308728.1:p.Pro498Ser, NP_001308727.1:p.Pro547Ser, NP_001308740.1:p.Pro287Ser, NP_001308720.1:p.Pro547Ser, NP_001308725.1:p.Pro498Ser, NP_001308723.1:p.Pro547Ser, NP_001308735.1:p.Pro287Ser, NP_001308719.1:p.Pro569Ser, NP_001308745.1:p.Pro287Ser, NP_001308726.1:p.Pro547Ser, NP_001308715.1:p.Pro575Ser, NP_001308742.1:p.Pro287Ser, NP_001308718.1:p.Pro575Ser, XP_011511561.2:p.Pro575Ser, XP_016862885.1:p.Pro575Ser, XP_016862886.1:p.Pro526Ser, XP_016862884.1:p.Pro569Ser, XP_011511559.1:p.Pro547Ser, XP_016862889.1:p.Pro526Ser, XP_016862887.1:p.Pro520Ser, XP_047305068.1:p.Pro547Ser, XP_047305072.1:p.Pro395Ser, XP_047305071.1:p.Pro395Ser, XP_047305074.1:p.Pro287Ser, XP_047305069.1:p.Pro575Ser, XP_047305070.1:p.Pro575Ser, XP_047305073.1:p.Pro547Ser

                                        20.

                                        rs1452706101 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          3:105670342 (GRCh38)
                                          3:105389186 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:105670341:A:C
                                          Gene:
                                          CBLB (Varview)
                                          Functional Consequence:
                                          synonymous_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000003.12:g.105670342A>C, NC_000003.11:g.105389186A>C, NG_055547.1:g.204211T>G, NM_170662.5:c.2580T>G, NM_170662.4:c.2580T>G, NM_170662.3:c.2580T>G, NR_135806.2:n.3096T>G, NR_135806.1:n.3127T>G, NM_001321807.2:c.1800T>G, NM_001321807.1:c.1800T>G, NR_135807.2:n.2942T>G, NR_135807.1:n.2973T>G, NM_001321822.2:c.1251T>G, NM_001321822.1:c.1251T>G, NR_135808.2:n.2897T>G, NR_135808.1:n.2928T>G, NM_001321820.2:c.1260T>G, NM_001321820.1:c.1260T>G, NR_135809.2:n.2853T>G, NR_135809.1:n.2884T>G, NR_135810.2:n.2808T>G, NR_135810.1:n.2829T>G, NM_001321793.2:c.2448T>G, NM_001321793.1:c.2448T>G, NM_001321795.2:c.2433T>G, NM_001321795.1:c.2433T>G, NR_135811.2:n.2718T>G, NR_135811.1:n.2749T>G, NM_001321808.2:c.1668T>G, NM_001321808.1:c.1668T>G, NM_001321788.2:c.2580T>G, NM_001321788.1:c.2580T>G, NM_001321799.2:c.2301T>G, NM_001321799.1:c.2301T>G, NM_001321798.2:c.2301T>G, NM_001321798.1:c.2301T>G, NM_001321811.2:c.1653T>G, NM_001321811.1:c.1653T>G, NM_001321791.2:c.2448T>G, NM_001321791.1:c.2448T>G, NM_001321796.2:c.2433T>G, NM_001321796.1:c.2433T>G, NM_001321794.2:c.2433T>G, NM_001321794.1:c.2433T>G, NM_001321806.2:c.1800T>G, NM_001321806.1:c.1800T>G, NM_001321790.2:c.2514T>G, NM_001321790.1:c.2514T>G, NM_001321816.2:c.1521T>G, NM_001321816.1:c.1521T>G, NM_001321797.2:c.2301T>G, NM_001321797.1:c.2301T>G, NM_001321786.1:c.2664T>G, NM_001321813.1:c.1653T>G, NR_135812.1:n.2608T>G, NM_001321789.1:c.2517T>G, XM_017007396.2:c.2532T>G, XM_017007396.1:c.2532T>G, XM_017007397.2:c.2517T>G, XM_017007397.1:c.2517T>G, XM_017007395.2:c.2646T>G, XM_017007395.1:c.2646T>G, XM_011513257.2:c.2580T>G, XM_011513257.1:c.2580T>G, XM_017007400.2:c.2385T>G, XM_017007400.1:c.2385T>G, XM_017007398.2:c.2499T>G, XM_017007398.1:c.2499T>G, XM_047449112.1:c.2580T>G, XM_047449116.1:c.2124T>G, XM_047449115.1:c.2124T>G, XM_047449118.1:c.1800T>G, XR_007095762.1:n.2926T>G, XR_007095761.1:n.2923T>G, XM_047449113.1:c.2690T>G, XM_047449114.1:c.2687T>G, XM_047449117.1:c.2474T>G, XP_047305069.1:p.Leu897Trp, XP_047305070.1:p.Leu896Trp, XP_047305073.1:p.Leu825Trp

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