U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 632

1.

rs1489625938 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    4:2964100 (GRCh38)
    4:2965827 (GRCh37)
    Canonical SPDI:
    NC_000004.12:2964099:G:A,NC_000004.12:2964099:G:T
    Gene:
    GRK4 (Varview), NOP14 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000007/1 (GnomAD)
    A=0.000011/3 (TOPMED)
    HGVS:
    NC_000004.12:g.2964100G>A, NC_000004.12:g.2964100G>T, NC_000004.11:g.2965827G>A, NC_000004.11:g.2965827G>T, NG_029102.1:g.5485G>A, NG_029102.1:g.5485G>T, NM_182982.3:c.30G>A, NM_182982.3:c.30G>T, NM_182982.2:c.30G>A, NM_182982.2:c.30G>T, NM_005307.3:c.30G>A, NM_005307.3:c.30G>T, NM_005307.2:c.30G>A, NM_005307.2:c.30G>T, NM_005307.1:c.30G>A, NM_005307.1:c.30G>T, NM_001004056.2:c.30G>A, NM_001004056.2:c.30G>T, NM_001004056.1:c.30G>A, NM_001004056.1:c.30G>T, NM_001004057.2:c.30G>A, NM_001004057.2:c.30G>T, NM_001004057.1:c.30G>A, NM_001004057.1:c.30G>T, NM_001350173.2:c.-308G>A, NM_001350173.2:c.-308G>T, NM_001350173.1:c.-308G>A, NM_001350173.1:c.-308G>T, XM_005247962.4:c.-395G>A, XM_005247962.4:c.-395G>T, XM_005247962.3:c.-395G>A, XM_005247962.3:c.-395G>T, XM_005247962.2:c.-395G>A, XM_005247962.2:c.-395G>T, XM_005247962.1:c.-395G>A, XM_005247962.1:c.-395G>T, XM_011513448.3:c.30G>A, XM_011513448.3:c.30G>T, XM_011513448.2:c.30G>A, XM_011513448.2:c.30G>T, XM_011513448.1:c.30G>A, XM_011513448.1:c.30G>T, XM_011513452.3:c.30G>A, XM_011513452.3:c.30G>T, XM_011513452.2:c.30G>A, XM_011513452.2:c.30G>T, XM_011513452.1:c.30G>A, XM_011513452.1:c.30G>T, XM_011513447.3:c.30G>A, XM_011513447.3:c.30G>T, XM_011513447.2:c.30G>A, XM_011513447.2:c.30G>T, XM_011513447.1:c.30G>A, XM_011513447.1:c.30G>T, XM_011513449.3:c.30G>A, XM_011513449.3:c.30G>T, XM_011513449.2:c.30G>A, XM_011513449.2:c.30G>T, XM_011513449.1:c.30G>A, XM_011513449.1:c.30G>T, XM_011513451.3:c.30G>A, XM_011513451.3:c.30G>T, XM_011513451.2:c.30G>A, XM_011513451.2:c.30G>T, XM_011513451.1:c.30G>A, XM_011513451.1:c.30G>T, XM_011513450.3:c.30G>A, XM_011513450.3:c.30G>T, XM_011513450.2:c.30G>A, XM_011513450.2:c.30G>T, XM_011513450.1:c.30G>A, XM_011513450.1:c.30G>T, XR_924941.3:n.530G>A, XR_924941.3:n.530G>T, XR_924941.2:n.597G>A, XR_924941.2:n.597G>T, XR_924941.1:n.596G>A, XR_924941.1:n.596G>T, XM_011513454.3:c.30G>A, XM_011513454.3:c.30G>T, XM_011513454.2:c.30G>A, XM_011513454.2:c.30G>T, XM_011513454.1:c.30G>A, XM_011513454.1:c.30G>T, XM_011513453.3:c.30G>A, XM_011513453.3:c.30G>T, XM_011513453.2:c.30G>A, XM_011513453.2:c.30G>T, XM_011513453.1:c.30G>A, XM_011513453.1:c.30G>T, XM_011513455.3:c.30G>A, XM_011513455.3:c.30G>T, XM_011513455.2:c.30G>A, XM_011513455.2:c.30G>T, XM_011513455.1:c.30G>A, XM_011513455.1:c.30G>T, XM_011513456.3:c.30G>A, XM_011513456.3:c.30G>T, XM_011513456.2:c.30G>A, XM_011513456.2:c.30G>T, XM_011513456.1:c.30G>A, XM_011513456.1:c.30G>T, XM_011513457.3:c.30G>A, XM_011513457.3:c.30G>T, XM_011513457.2:c.30G>A, XM_011513457.2:c.30G>T, XM_011513457.1:c.30G>A, XM_011513457.1:c.30G>T, XM_017008052.2:c.30G>A, XM_017008052.2:c.30G>T, XM_017008052.1:c.30G>A, XM_017008052.1:c.30G>T, XM_017008053.2:c.30G>A, XM_017008053.2:c.30G>T, XM_017008053.1:c.30G>A, XM_017008053.1:c.30G>T, XM_017008054.2:c.30G>A, XM_017008054.2:c.30G>T, XM_017008054.1:c.30G>A, XM_017008054.1:c.30G>T, XM_017008055.2:c.30G>A, XM_017008055.2:c.30G>T, XM_017008055.1:c.30G>A, XM_017008055.1:c.30G>T, XM_017008056.2:c.30G>A, XM_017008056.2:c.30G>T, XM_017008056.1:c.30G>A, XM_017008056.1:c.30G>T, XR_001741210.2:n.530G>A, XR_001741210.2:n.530G>T, XR_001741210.1:n.597G>A, XR_001741210.1:n.597G>T, XM_047450127.1:c.30G>A, XM_047450127.1:c.30G>T, XM_047450128.1:c.30G>A, XM_047450128.1:c.30G>T

    2.

    rs1488853475 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      4:3029222 (GRCh38)
      4:3030949 (GRCh37)
      Canonical SPDI:
      NC_000004.12:3029221:A:G
      Gene:
      GRK4 (Varview)
      Functional Consequence:
      missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,3_prime_UTR_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000004.12:g.3029222A>G, NC_000004.11:g.3030949A>G, NG_029102.1:g.70607A>G, NM_182982.3:c.1082A>G, NM_182982.2:c.1082A>G, NM_005307.3:c.986A>G, NM_005307.2:c.986A>G, NM_005307.1:c.986A>G, NM_001004056.2:c.986A>G, NM_001004056.1:c.986A>G, NM_001004057.2:c.1082A>G, NM_001004057.1:c.1082A>G, NM_001350173.2:c.500A>G, NM_001350173.1:c.500A>G, XM_005247962.4:c.449A>G, XM_005247962.3:c.449A>G, XM_005247962.2:c.449A>G, XM_005247962.1:c.449A>G, XM_011513448.3:c.1199A>G, XM_011513448.2:c.1199A>G, XM_011513448.1:c.1199A>G, XM_011513452.3:c.1199A>G, XM_011513452.2:c.1199A>G, XM_011513452.1:c.1199A>G, XM_011513447.3:c.1199A>G, XM_011513447.2:c.1199A>G, XM_011513447.1:c.1199A>G, XM_011513449.3:c.1103A>G, XM_011513449.2:c.1103A>G, XM_011513449.1:c.1103A>G, XM_011513451.3:c.1199A>G, XM_011513451.2:c.1199A>G, XM_011513451.1:c.1199A>G, XM_011513450.3:c.1199A>G, XM_011513450.2:c.1199A>G, XM_011513450.1:c.1199A>G, XR_924941.3:n.1699A>G, XR_924941.2:n.1766A>G, XR_924941.1:n.1765A>G, XM_011513454.3:c.1199A>G, XM_011513454.2:c.1199A>G, XM_011513454.1:c.1199A>G, XM_011513453.3:c.1199A>G, XM_011513453.2:c.1199A>G, XM_011513453.1:c.1199A>G, XM_011513455.3:c.1199A>G, XM_011513455.2:c.1199A>G, XM_011513455.1:c.1199A>G, XM_017008052.2:c.1121A>G, XM_017008052.1:c.1121A>G, XM_017008053.2:c.1109A>G, XM_017008053.1:c.1109A>G, XM_017008054.2:c.1082A>G, XM_017008054.1:c.1082A>G, XM_017008055.2:c.986A>G, XM_017008055.1:c.986A>G, XM_017008056.2:c.1082A>G, XM_017008056.1:c.1082A>G, XR_001741210.2:n.1779A>G, XM_047450126.1:c.449A>G, XM_047450125.1:c.449A>G, XM_047450124.1:c.500A>G, XM_047450128.1:c.*45A>G, NP_892027.2:p.Glu361Gly, NP_005298.2:p.Glu329Gly, NP_001004056.1:p.Glu329Gly, NP_001004057.1:p.Glu361Gly, NP_001337102.1:p.Glu167Gly, XP_005248019.1:p.Glu150Gly, XP_011511750.1:p.Glu400Gly, XP_011511754.1:p.Glu400Gly, XP_011511749.1:p.Glu400Gly, XP_011511751.1:p.Glu368Gly, XP_011511753.1:p.Glu400Gly, XP_011511752.1:p.Glu400Gly, XP_011511756.1:p.Glu400Gly, XP_011511755.1:p.Glu400Gly, XP_011511757.1:p.Glu400Gly, XP_016863541.1:p.Glu374Gly, XP_016863542.1:p.Glu370Gly, XP_016863543.1:p.Glu361Gly, XP_016863544.1:p.Glu329Gly, XP_016863545.1:p.Glu361Gly, XP_047306082.1:p.Glu150Gly, XP_047306081.1:p.Glu150Gly, XP_047306080.1:p.Glu167Gly

      3.

      rs1486895432 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        4:3037466 (GRCh38)
        4:3039193 (GRCh37)
        Canonical SPDI:
        NC_000004.12:3037465:T:A
        Gene:
        GRK4 (Varview)
        Functional Consequence:
        coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,stop_gained
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000004.12:g.3037466T>A, NC_000004.11:g.3039193T>A, NG_029102.1:g.78851T>A, NM_182982.3:c.1500T>A, NM_182982.2:c.1500T>A, NM_005307.3:c.1404T>A, NM_005307.2:c.1404T>A, NM_005307.1:c.1404T>A, NM_001004056.2:c.1404T>A, NM_001004056.1:c.1404T>A, NM_001004057.2:c.1500T>A, NM_001004057.1:c.1500T>A, NM_001350173.2:c.918T>A, NM_001350173.1:c.918T>A, XM_005247962.4:c.867T>A, XM_005247962.3:c.867T>A, XM_005247962.2:c.867T>A, XM_005247962.1:c.867T>A, XM_011513448.3:c.1617T>A, XM_011513448.2:c.1617T>A, XM_011513448.1:c.1617T>A, XM_011513452.3:c.1479T>A, XM_011513452.2:c.1479T>A, XM_011513452.1:c.1479T>A, XM_011513447.3:c.1617T>A, XM_011513447.2:c.1617T>A, XM_011513447.1:c.1617T>A, XM_011513449.3:c.1521T>A, XM_011513449.2:c.1521T>A, XM_011513449.1:c.1521T>A, XM_011513451.3:c.1479T>A, XM_011513451.2:c.1479T>A, XM_011513451.1:c.1479T>A, XM_011513450.3:c.1617T>A, XM_011513450.2:c.1617T>A, XM_011513450.1:c.1617T>A, XM_011513454.3:c.1479T>A, XM_011513454.2:c.1479T>A, XM_011513454.1:c.1479T>A, XM_017008052.2:c.1539T>A, XM_017008052.1:c.1539T>A, XM_017008053.2:c.1527T>A, XM_017008053.1:c.1527T>A, XM_017008054.2:c.1362T>A, XM_017008054.1:c.1362T>A, XM_017008055.2:c.1266T>A, XM_017008055.1:c.1266T>A, XM_047450126.1:c.867T>A, XM_047450125.1:c.867T>A, XM_047450124.1:c.918T>A, NP_892027.2:p.Tyr500Ter, NP_005298.2:p.Tyr468Ter, NP_001004056.1:p.Tyr468Ter, NP_001004057.1:p.Tyr500Ter, NP_001337102.1:p.Tyr306Ter, XP_005248019.1:p.Tyr289Ter, XP_011511750.1:p.Tyr539Ter, XP_011511754.1:p.Tyr493Ter, XP_011511749.1:p.Tyr539Ter, XP_011511751.1:p.Tyr507Ter, XP_011511753.1:p.Tyr493Ter, XP_011511752.1:p.Tyr539Ter, XP_011511756.1:p.Tyr493Ter, XP_016863541.1:p.Tyr513Ter, XP_016863542.1:p.Tyr509Ter, XP_016863543.1:p.Tyr454Ter, XP_016863544.1:p.Tyr422Ter, XP_047306082.1:p.Tyr289Ter, XP_047306081.1:p.Tyr289Ter, XP_047306080.1:p.Tyr306Ter

        4.

        rs1484116947 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          4:3019819 (GRCh38)
          4:3021546 (GRCh37)
          Canonical SPDI:
          NC_000004.12:3019818:G:T
          Gene:
          GRK4 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000094/1 (ALFA)
          T=0.000008/2 (GnomAD_exomes)
          T=0.000014/2 (GnomAD)
          T=0.000019/5 (TOPMED)
          HGVS:
          NC_000004.12:g.3019819G>T, NC_000004.11:g.3021546G>T, NG_029102.1:g.61204G>T, NM_182982.3:c.920G>T, NM_182982.2:c.920G>T, NM_005307.3:c.824G>T, NM_005307.2:c.824G>T, NM_005307.1:c.824G>T, NM_001004056.2:c.824G>T, NM_001004056.1:c.824G>T, NM_001004057.2:c.920G>T, NM_001004057.1:c.920G>T, NM_001350173.2:c.338G>T, NM_001350173.1:c.338G>T, XM_005247962.4:c.287G>T, XM_005247962.3:c.287G>T, XM_005247962.2:c.287G>T, XM_005247962.1:c.287G>T, XM_011513448.3:c.1037G>T, XM_011513448.2:c.1037G>T, XM_011513448.1:c.1037G>T, XM_011513452.3:c.1037G>T, XM_011513452.2:c.1037G>T, XM_011513452.1:c.1037G>T, XM_011513447.3:c.1037G>T, XM_011513447.2:c.1037G>T, XM_011513447.1:c.1037G>T, XM_011513449.3:c.941G>T, XM_011513449.2:c.941G>T, XM_011513449.1:c.941G>T, XM_011513451.3:c.1037G>T, XM_011513451.2:c.1037G>T, XM_011513451.1:c.1037G>T, XM_011513450.3:c.1037G>T, XM_011513450.2:c.1037G>T, XM_011513450.1:c.1037G>T, XR_924941.3:n.1537G>T, XR_924941.2:n.1604G>T, XR_924941.1:n.1603G>T, XM_011513454.3:c.1037G>T, XM_011513454.2:c.1037G>T, XM_011513454.1:c.1037G>T, XM_011513453.3:c.1037G>T, XM_011513453.2:c.1037G>T, XM_011513453.1:c.1037G>T, XM_011513455.3:c.1037G>T, XM_011513455.2:c.1037G>T, XM_011513455.1:c.1037G>T, XM_011513456.3:c.1037G>T, XM_011513456.2:c.1037G>T, XM_011513456.1:c.1037G>T, XM_017008052.2:c.959G>T, XM_017008052.1:c.959G>T, XM_017008053.2:c.1037G>T, XM_017008053.1:c.1037G>T, XM_017008054.2:c.920G>T, XM_017008054.1:c.920G>T, XM_017008055.2:c.824G>T, XM_017008055.1:c.824G>T, XM_017008056.2:c.920G>T, XM_017008056.1:c.920G>T, XR_001741210.2:n.1537G>T, XR_001741210.1:n.1604G>T, XM_047450126.1:c.287G>T, XM_047450125.1:c.287G>T, XM_047450124.1:c.338G>T, NP_892027.2:p.Arg307Ile, NP_005298.2:p.Arg275Ile, NP_001004056.1:p.Arg275Ile, NP_001004057.1:p.Arg307Ile, NP_001337102.1:p.Arg113Ile, XP_005248019.1:p.Arg96Ile, XP_011511750.1:p.Arg346Ile, XP_011511754.1:p.Arg346Ile, XP_011511749.1:p.Arg346Ile, XP_011511751.1:p.Arg314Ile, XP_011511753.1:p.Arg346Ile, XP_011511752.1:p.Arg346Ile, XP_011511756.1:p.Arg346Ile, XP_011511755.1:p.Arg346Ile, XP_011511757.1:p.Arg346Ile, XP_011511758.1:p.Arg346Ile, XP_016863541.1:p.Arg320Ile, XP_016863542.1:p.Arg346Ile, XP_016863543.1:p.Arg307Ile, XP_016863544.1:p.Arg275Ile, XP_016863545.1:p.Arg307Ile, XP_047306082.1:p.Arg96Ile, XP_047306081.1:p.Arg96Ile, XP_047306080.1:p.Arg113Ile

          5.

          rs1481730959 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            4:3035523 (GRCh38)
            4:3037250 (GRCh37)
            Canonical SPDI:
            NC_000004.12:3035522:T:C
            Gene:
            GRK4 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            C=0.000014/2 (GnomAD)
            HGVS:
            NC_000004.12:g.3035523T>C, NC_000004.11:g.3037250T>C, NG_029102.1:g.76908T>C, NM_182982.3:c.1407T>C, NM_182982.2:c.1407T>C, NM_005307.3:c.1311T>C, NM_005307.2:c.1311T>C, NM_005307.1:c.1311T>C, NM_001004056.2:c.1311T>C, NM_001004056.1:c.1311T>C, NM_001004057.2:c.1407T>C, NM_001004057.1:c.1407T>C, NM_001350173.2:c.825T>C, NM_001350173.1:c.825T>C, XM_005247962.4:c.774T>C, XM_005247962.3:c.774T>C, XM_005247962.2:c.774T>C, XM_005247962.1:c.774T>C, XM_011513448.3:c.1524T>C, XM_011513448.2:c.1524T>C, XM_011513448.1:c.1524T>C, XM_011513447.3:c.1524T>C, XM_011513447.2:c.1524T>C, XM_011513447.1:c.1524T>C, XM_011513449.3:c.1428T>C, XM_011513449.2:c.1428T>C, XM_011513449.1:c.1428T>C, XM_011513450.3:c.1524T>C, XM_011513450.2:c.1524T>C, XM_011513450.1:c.1524T>C, XR_924941.3:n.2024T>C, XR_924941.2:n.2091T>C, XR_924941.1:n.2090T>C, XM_011513453.3:c.1524T>C, XM_011513453.2:c.1524T>C, XM_011513453.1:c.1524T>C, XM_017008052.2:c.1446T>C, XM_017008052.1:c.1446T>C, XM_017008053.2:c.1434T>C, XM_017008053.1:c.1434T>C, XM_047450126.1:c.774T>C, XM_047450125.1:c.774T>C, XM_047450124.1:c.825T>C

            6.

            rs1481480122 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G,T [Show Flanks]
              Chromosome:
              4:2984557 (GRCh38)
              4:2986284 (GRCh37)
              Canonical SPDI:
              NC_000004.12:2984556:A:G,NC_000004.12:2984556:A:T
              Gene:
              GRK4 (Varview)
              Functional Consequence:
              missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              NC_000004.12:g.2984557A>G, NC_000004.12:g.2984557A>T, NC_000004.11:g.2986284A>G, NC_000004.11:g.2986284A>T, NG_029102.1:g.25942A>G, NG_029102.1:g.25942A>T, NM_182982.3:c.97A>G, NM_182982.3:c.97A>T, NM_182982.2:c.97A>G, NM_182982.2:c.97A>T, NM_001004057.2:c.97A>G, NM_001004057.2:c.97A>T, NM_001004057.1:c.97A>G, NM_001004057.1:c.97A>T, XM_011513448.3:c.97A>G, XM_011513448.3:c.97A>T, XM_011513448.2:c.97A>G, XM_011513448.2:c.97A>T, XM_011513448.1:c.97A>G, XM_011513448.1:c.97A>T, XM_011513452.3:c.97A>G, XM_011513452.3:c.97A>T, XM_011513452.2:c.97A>G, XM_011513452.2:c.97A>T, XM_011513452.1:c.97A>G, XM_011513452.1:c.97A>T, XM_011513447.3:c.97A>G, XM_011513447.3:c.97A>T, XM_011513447.2:c.97A>G, XM_011513447.2:c.97A>T, XM_011513447.1:c.97A>G, XM_011513447.1:c.97A>T, XM_011513451.3:c.97A>G, XM_011513451.3:c.97A>T, XM_011513451.2:c.97A>G, XM_011513451.2:c.97A>T, XM_011513451.1:c.97A>G, XM_011513451.1:c.97A>T, XM_011513450.3:c.97A>G, XM_011513450.3:c.97A>T, XM_011513450.2:c.97A>G, XM_011513450.2:c.97A>T, XM_011513450.1:c.97A>G, XM_011513450.1:c.97A>T, XR_924941.3:n.597A>G, XR_924941.3:n.597A>T, XR_924941.2:n.664A>G, XR_924941.2:n.664A>T, XR_924941.1:n.663A>G, XR_924941.1:n.663A>T, XM_011513454.3:c.97A>G, XM_011513454.3:c.97A>T, XM_011513454.2:c.97A>G, XM_011513454.2:c.97A>T, XM_011513454.1:c.97A>G, XM_011513454.1:c.97A>T, XM_011513453.3:c.97A>G, XM_011513453.3:c.97A>T, XM_011513453.2:c.97A>G, XM_011513453.2:c.97A>T, XM_011513453.1:c.97A>G, XM_011513453.1:c.97A>T, XM_011513455.3:c.97A>G, XM_011513455.3:c.97A>T, XM_011513455.2:c.97A>G, XM_011513455.2:c.97A>T, XM_011513455.1:c.97A>G, XM_011513455.1:c.97A>T, XM_011513456.3:c.97A>G, XM_011513456.3:c.97A>T, XM_011513456.2:c.97A>G, XM_011513456.2:c.97A>T, XM_011513456.1:c.97A>G, XM_011513456.1:c.97A>T, XM_011513457.3:c.97A>G, XM_011513457.3:c.97A>T, XM_011513457.2:c.97A>G, XM_011513457.2:c.97A>T, XM_011513457.1:c.97A>G, XM_011513457.1:c.97A>T, XM_017008052.2:c.97A>G, XM_017008052.2:c.97A>T, XM_017008052.1:c.97A>G, XM_017008052.1:c.97A>T, XM_017008053.2:c.97A>G, XM_017008053.2:c.97A>T, XM_017008053.1:c.97A>G, XM_017008053.1:c.97A>T, XM_017008054.2:c.97A>G, XM_017008054.2:c.97A>T, XM_017008054.1:c.97A>G, XM_017008054.1:c.97A>T, XM_017008056.2:c.97A>G, XM_017008056.2:c.97A>T, XM_017008056.1:c.97A>G, XM_017008056.1:c.97A>T, XR_001741210.2:n.597A>G, XR_001741210.2:n.597A>T, XR_001741210.1:n.664A>G, XR_001741210.1:n.664A>T, XM_047450125.1:c.-424A>G, XM_047450125.1:c.-424A>T, XM_047450127.1:c.97A>G, XM_047450127.1:c.97A>T, XM_047450128.1:c.97A>G, XM_047450128.1:c.97A>T, NP_892027.2:p.Ile33Val, NP_892027.2:p.Ile33Leu, NP_001004057.1:p.Ile33Val, NP_001004057.1:p.Ile33Leu, XP_011511750.1:p.Ile33Val, XP_011511750.1:p.Ile33Leu, XP_011511754.1:p.Ile33Val, XP_011511754.1:p.Ile33Leu, XP_011511749.1:p.Ile33Val, XP_011511749.1:p.Ile33Leu, XP_011511753.1:p.Ile33Val, XP_011511753.1:p.Ile33Leu, XP_011511752.1:p.Ile33Val, XP_011511752.1:p.Ile33Leu, XP_011511756.1:p.Ile33Val, XP_011511756.1:p.Ile33Leu, XP_011511755.1:p.Ile33Val, XP_011511755.1:p.Ile33Leu, XP_011511757.1:p.Ile33Val, XP_011511757.1:p.Ile33Leu, XP_011511758.1:p.Ile33Val, XP_011511758.1:p.Ile33Leu, XP_011511759.1:p.Ile33Val, XP_011511759.1:p.Ile33Leu, XP_016863541.1:p.Ile33Val, XP_016863541.1:p.Ile33Leu, XP_016863542.1:p.Ile33Val, XP_016863542.1:p.Ile33Leu, XP_016863543.1:p.Ile33Val, XP_016863543.1:p.Ile33Leu, XP_016863545.1:p.Ile33Val, XP_016863545.1:p.Ile33Leu, XP_047306083.1:p.Ile33Val, XP_047306083.1:p.Ile33Leu, XP_047306084.1:p.Ile33Val, XP_047306084.1:p.Ile33Leu

              7.

              rs1480744120 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                4:3019741 (GRCh38)
                4:3021468 (GRCh37)
                Canonical SPDI:
                NC_000004.12:3019740:A:G
                Gene:
                GRK4 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000004.12:g.3019741A>G, NC_000004.11:g.3021468A>G, NG_029102.1:g.61126A>G, NM_182982.3:c.842A>G, NM_182982.2:c.842A>G, NM_005307.3:c.746A>G, NM_005307.2:c.746A>G, NM_005307.1:c.746A>G, NM_001004056.2:c.746A>G, NM_001004056.1:c.746A>G, NM_001004057.2:c.842A>G, NM_001004057.1:c.842A>G, NM_001350173.2:c.260A>G, NM_001350173.1:c.260A>G, XM_005247962.4:c.209A>G, XM_005247962.3:c.209A>G, XM_005247962.2:c.209A>G, XM_005247962.1:c.209A>G, XM_011513448.3:c.959A>G, XM_011513448.2:c.959A>G, XM_011513448.1:c.959A>G, XM_011513452.3:c.959A>G, XM_011513452.2:c.959A>G, XM_011513452.1:c.959A>G, XM_011513447.3:c.959A>G, XM_011513447.2:c.959A>G, XM_011513447.1:c.959A>G, XM_011513449.3:c.863A>G, XM_011513449.2:c.863A>G, XM_011513449.1:c.863A>G, XM_011513451.3:c.959A>G, XM_011513451.2:c.959A>G, XM_011513451.1:c.959A>G, XM_011513450.3:c.959A>G, XM_011513450.2:c.959A>G, XM_011513450.1:c.959A>G, XR_924941.3:n.1459A>G, XR_924941.2:n.1526A>G, XR_924941.1:n.1525A>G, XM_011513454.3:c.959A>G, XM_011513454.2:c.959A>G, XM_011513454.1:c.959A>G, XM_011513453.3:c.959A>G, XM_011513453.2:c.959A>G, XM_011513453.1:c.959A>G, XM_011513455.3:c.959A>G, XM_011513455.2:c.959A>G, XM_011513455.1:c.959A>G, XM_011513456.3:c.959A>G, XM_011513456.2:c.959A>G, XM_011513456.1:c.959A>G, XM_017008052.2:c.881A>G, XM_017008052.1:c.881A>G, XM_017008053.2:c.959A>G, XM_017008053.1:c.959A>G, XM_017008054.2:c.842A>G, XM_017008054.1:c.842A>G, XM_017008055.2:c.746A>G, XM_017008055.1:c.746A>G, XM_017008056.2:c.842A>G, XM_017008056.1:c.842A>G, XR_001741210.2:n.1459A>G, XR_001741210.1:n.1526A>G, XM_047450126.1:c.209A>G, XM_047450125.1:c.209A>G, XM_047450124.1:c.260A>G, NP_892027.2:p.Asn281Ser, NP_005298.2:p.Asn249Ser, NP_001004056.1:p.Asn249Ser, NP_001004057.1:p.Asn281Ser, NP_001337102.1:p.Asn87Ser, XP_005248019.1:p.Asn70Ser, XP_011511750.1:p.Asn320Ser, XP_011511754.1:p.Asn320Ser, XP_011511749.1:p.Asn320Ser, XP_011511751.1:p.Asn288Ser, XP_011511753.1:p.Asn320Ser, XP_011511752.1:p.Asn320Ser, XP_011511756.1:p.Asn320Ser, XP_011511755.1:p.Asn320Ser, XP_011511757.1:p.Asn320Ser, XP_011511758.1:p.Asn320Ser, XP_016863541.1:p.Asn294Ser, XP_016863542.1:p.Asn320Ser, XP_016863543.1:p.Asn281Ser, XP_016863544.1:p.Asn249Ser, XP_016863545.1:p.Asn281Ser, XP_047306082.1:p.Asn70Ser, XP_047306081.1:p.Asn70Ser, XP_047306080.1:p.Asn87Ser

                8.

                rs1474162734 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  4:3019749 (GRCh38)
                  4:3021476 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:3019748:T:C
                  Gene:
                  GRK4 (Varview)
                  Functional Consequence:
                  missense_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000004.12:g.3019749T>C, NC_000004.11:g.3021476T>C, NG_029102.1:g.61134T>C, NM_182982.3:c.850T>C, NM_182982.2:c.850T>C, NM_005307.3:c.754T>C, NM_005307.2:c.754T>C, NM_005307.1:c.754T>C, NM_001004056.2:c.754T>C, NM_001004056.1:c.754T>C, NM_001004057.2:c.850T>C, NM_001004057.1:c.850T>C, NM_001350173.2:c.268T>C, NM_001350173.1:c.268T>C, XM_005247962.4:c.217T>C, XM_005247962.3:c.217T>C, XM_005247962.2:c.217T>C, XM_005247962.1:c.217T>C, XM_011513448.3:c.967T>C, XM_011513448.2:c.967T>C, XM_011513448.1:c.967T>C, XM_011513452.3:c.967T>C, XM_011513452.2:c.967T>C, XM_011513452.1:c.967T>C, XM_011513447.3:c.967T>C, XM_011513447.2:c.967T>C, XM_011513447.1:c.967T>C, XM_011513449.3:c.871T>C, XM_011513449.2:c.871T>C, XM_011513449.1:c.871T>C, XM_011513451.3:c.967T>C, XM_011513451.2:c.967T>C, XM_011513451.1:c.967T>C, XM_011513450.3:c.967T>C, XM_011513450.2:c.967T>C, XM_011513450.1:c.967T>C, XR_924941.3:n.1467T>C, XR_924941.2:n.1534T>C, XR_924941.1:n.1533T>C, XM_011513454.3:c.967T>C, XM_011513454.2:c.967T>C, XM_011513454.1:c.967T>C, XM_011513453.3:c.967T>C, XM_011513453.2:c.967T>C, XM_011513453.1:c.967T>C, XM_011513455.3:c.967T>C, XM_011513455.2:c.967T>C, XM_011513455.1:c.967T>C, XM_011513456.3:c.967T>C, XM_011513456.2:c.967T>C, XM_011513456.1:c.967T>C, XM_017008052.2:c.889T>C, XM_017008052.1:c.889T>C, XM_017008053.2:c.967T>C, XM_017008053.1:c.967T>C, XM_017008054.2:c.850T>C, XM_017008054.1:c.850T>C, XM_017008055.2:c.754T>C, XM_017008055.1:c.754T>C, XM_017008056.2:c.850T>C, XM_017008056.1:c.850T>C, XR_001741210.2:n.1467T>C, XR_001741210.1:n.1534T>C, XM_047450126.1:c.217T>C, XM_047450125.1:c.217T>C, XM_047450124.1:c.268T>C, NP_892027.2:p.Phe284Leu, NP_005298.2:p.Phe252Leu, NP_001004056.1:p.Phe252Leu, NP_001004057.1:p.Phe284Leu, NP_001337102.1:p.Phe90Leu, XP_005248019.1:p.Phe73Leu, XP_011511750.1:p.Phe323Leu, XP_011511754.1:p.Phe323Leu, XP_011511749.1:p.Phe323Leu, XP_011511751.1:p.Phe291Leu, XP_011511753.1:p.Phe323Leu, XP_011511752.1:p.Phe323Leu, XP_011511756.1:p.Phe323Leu, XP_011511755.1:p.Phe323Leu, XP_011511757.1:p.Phe323Leu, XP_011511758.1:p.Phe323Leu, XP_016863541.1:p.Phe297Leu, XP_016863542.1:p.Phe323Leu, XP_016863543.1:p.Phe284Leu, XP_016863544.1:p.Phe252Leu, XP_016863545.1:p.Phe284Leu, XP_047306082.1:p.Phe73Leu, XP_047306081.1:p.Phe73Leu, XP_047306080.1:p.Phe90Leu

                  9.

                  rs1472832784 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    4:2984514 (GRCh38)
                    4:2986241 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:2984513:A:G
                    Gene:
                    GRK4 (Varview)
                    Functional Consequence:
                    synonymous_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000004.12:g.2984514A>G, NC_000004.11:g.2986241A>G, NG_029102.1:g.25899A>G, NM_182982.3:c.54A>G, NM_182982.2:c.54A>G, NM_001004057.2:c.54A>G, NM_001004057.1:c.54A>G, XM_011513448.3:c.54A>G, XM_011513448.2:c.54A>G, XM_011513448.1:c.54A>G, XM_011513452.3:c.54A>G, XM_011513452.2:c.54A>G, XM_011513452.1:c.54A>G, XM_011513447.3:c.54A>G, XM_011513447.2:c.54A>G, XM_011513447.1:c.54A>G, XM_011513451.3:c.54A>G, XM_011513451.2:c.54A>G, XM_011513451.1:c.54A>G, XM_011513450.3:c.54A>G, XM_011513450.2:c.54A>G, XM_011513450.1:c.54A>G, XR_924941.3:n.554A>G, XR_924941.2:n.621A>G, XR_924941.1:n.620A>G, XM_011513454.3:c.54A>G, XM_011513454.2:c.54A>G, XM_011513454.1:c.54A>G, XM_011513453.3:c.54A>G, XM_011513453.2:c.54A>G, XM_011513453.1:c.54A>G, XM_011513455.3:c.54A>G, XM_011513455.2:c.54A>G, XM_011513455.1:c.54A>G, XM_011513456.3:c.54A>G, XM_011513456.2:c.54A>G, XM_011513456.1:c.54A>G, XM_011513457.3:c.54A>G, XM_011513457.2:c.54A>G, XM_011513457.1:c.54A>G, XM_017008052.2:c.54A>G, XM_017008052.1:c.54A>G, XM_017008053.2:c.54A>G, XM_017008053.1:c.54A>G, XM_017008054.2:c.54A>G, XM_017008054.1:c.54A>G, XM_017008056.2:c.54A>G, XM_017008056.1:c.54A>G, XR_001741210.2:n.554A>G, XR_001741210.1:n.621A>G, XM_047450127.1:c.54A>G, XM_047450128.1:c.54A>G

                    10.

                    rs1472792548 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      4:3027998 (GRCh38)
                      4:3029725 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:3027997:A:G
                      Gene:
                      GRK4 (Varview)
                      Functional Consequence:
                      missense_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000004.12:g.3027998A>G, NC_000004.11:g.3029725A>G, NG_029102.1:g.69383A>G, NM_182982.3:c.1057A>G, NM_182982.2:c.1057A>G, NM_005307.3:c.961A>G, NM_005307.2:c.961A>G, NM_005307.1:c.961A>G, NM_001004056.2:c.961A>G, NM_001004056.1:c.961A>G, NM_001004057.2:c.1057A>G, NM_001004057.1:c.1057A>G, NM_001350173.2:c.475A>G, NM_001350173.1:c.475A>G, XM_005247962.4:c.424A>G, XM_005247962.3:c.424A>G, XM_005247962.2:c.424A>G, XM_005247962.1:c.424A>G, XM_011513448.3:c.1174A>G, XM_011513448.2:c.1174A>G, XM_011513448.1:c.1174A>G, XM_011513452.3:c.1174A>G, XM_011513452.2:c.1174A>G, XM_011513452.1:c.1174A>G, XM_011513447.3:c.1174A>G, XM_011513447.2:c.1174A>G, XM_011513447.1:c.1174A>G, XM_011513449.3:c.1078A>G, XM_011513449.2:c.1078A>G, XM_011513449.1:c.1078A>G, XM_011513451.3:c.1174A>G, XM_011513451.2:c.1174A>G, XM_011513451.1:c.1174A>G, XM_011513450.3:c.1174A>G, XM_011513450.2:c.1174A>G, XM_011513450.1:c.1174A>G, XR_924941.3:n.1674A>G, XR_924941.2:n.1741A>G, XR_924941.1:n.1740A>G, XM_011513454.3:c.1174A>G, XM_011513454.2:c.1174A>G, XM_011513454.1:c.1174A>G, XM_011513453.3:c.1174A>G, XM_011513453.2:c.1174A>G, XM_011513453.1:c.1174A>G, XM_011513455.3:c.1174A>G, XM_011513455.2:c.1174A>G, XM_011513455.1:c.1174A>G, XM_017008052.2:c.1096A>G, XM_017008052.1:c.1096A>G, XM_017008054.2:c.1057A>G, XM_017008054.1:c.1057A>G, XM_017008055.2:c.961A>G, XM_017008055.1:c.961A>G, XM_017008056.2:c.1057A>G, XM_017008056.1:c.1057A>G, XM_047450126.1:c.424A>G, XM_047450125.1:c.424A>G, XM_047450127.1:c.*110A>G, XM_047450124.1:c.475A>G, NP_892027.2:p.Met353Val, NP_005298.2:p.Met321Val, NP_001004056.1:p.Met321Val, NP_001004057.1:p.Met353Val, NP_001337102.1:p.Met159Val, XP_005248019.1:p.Met142Val, XP_011511750.1:p.Met392Val, XP_011511754.1:p.Met392Val, XP_011511749.1:p.Met392Val, XP_011511751.1:p.Met360Val, XP_011511753.1:p.Met392Val, XP_011511752.1:p.Met392Val, XP_011511756.1:p.Met392Val, XP_011511755.1:p.Met392Val, XP_011511757.1:p.Met392Val, XP_016863541.1:p.Met366Val, XP_016863543.1:p.Met353Val, XP_016863544.1:p.Met321Val, XP_016863545.1:p.Met353Val, XP_047306082.1:p.Met142Val, XP_047306081.1:p.Met142Val, XP_047306080.1:p.Met159Val

                      11.

                      rs1466543728 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        4:3013765 (GRCh38)
                        4:3015492 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:3013764:G:A
                        Gene:
                        GRK4 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000004.12:g.3013765G>A, NC_000004.11:g.3015492G>A, NG_029102.1:g.55150G>A, NM_182982.3:c.678G>A, NM_182982.2:c.678G>A, NM_005307.3:c.582G>A, NM_005307.2:c.582G>A, NM_005307.1:c.582G>A, NM_001004056.2:c.582G>A, NM_001004056.1:c.582G>A, NM_001004057.2:c.678G>A, NM_001004057.1:c.678G>A, NM_001350173.2:c.96G>A, NM_001350173.1:c.96G>A, XM_005247962.4:c.45G>A, XM_005247962.3:c.45G>A, XM_005247962.2:c.45G>A, XM_005247962.1:c.45G>A, XM_011513448.3:c.795G>A, XM_011513448.2:c.795G>A, XM_011513448.1:c.795G>A, XM_011513452.3:c.795G>A, XM_011513452.2:c.795G>A, XM_011513452.1:c.795G>A, XM_011513447.3:c.795G>A, XM_011513447.2:c.795G>A, XM_011513447.1:c.795G>A, XM_011513449.3:c.699G>A, XM_011513449.2:c.699G>A, XM_011513449.1:c.699G>A, XM_011513451.3:c.795G>A, XM_011513451.2:c.795G>A, XM_011513451.1:c.795G>A, XM_011513450.3:c.795G>A, XM_011513450.2:c.795G>A, XM_011513450.1:c.795G>A, XR_924941.3:n.1295G>A, XR_924941.2:n.1362G>A, XR_924941.1:n.1361G>A, XM_011513454.3:c.795G>A, XM_011513454.2:c.795G>A, XM_011513454.1:c.795G>A, XM_011513453.3:c.795G>A, XM_011513453.2:c.795G>A, XM_011513453.1:c.795G>A, XM_011513455.3:c.795G>A, XM_011513455.2:c.795G>A, XM_011513455.1:c.795G>A, XM_011513456.3:c.795G>A, XM_011513456.2:c.795G>A, XM_011513456.1:c.795G>A, XM_011513457.3:c.795G>A, XM_011513457.2:c.795G>A, XM_011513457.1:c.795G>A, XM_017008052.2:c.717G>A, XM_017008052.1:c.717G>A, XM_017008053.2:c.795G>A, XM_017008053.1:c.795G>A, XM_017008054.2:c.678G>A, XM_017008054.1:c.678G>A, XM_017008055.2:c.582G>A, XM_017008055.1:c.582G>A, XM_017008056.2:c.678G>A, XM_017008056.1:c.678G>A, XR_001741210.2:n.1295G>A, XR_001741210.1:n.1362G>A, XM_047450126.1:c.45G>A, XM_047450125.1:c.45G>A, XM_047450127.1:c.795G>A, XM_047450124.1:c.96G>A, XM_047450128.1:c.795G>A

                        12.

                        rs1462351239 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          C>- [Show Flanks]
                          Chromosome:
                          4:3038461 (GRCh38)
                          4:3040188 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:3038460:CCCC:CCC
                          Gene:
                          GRK4 (Varview)
                          Functional Consequence:
                          intron_variant,frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          CCC=0.000051/1 (ALFA)
                          -=0.000008/2 (TOPMED)
                          -=0.000012/3 (GnomAD_exomes)
                          -=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000004.12:g.3038464del, NC_000004.11:g.3040191del, NG_029102.1:g.79849del, NM_182982.3:c.1634del, NM_182982.2:c.1634del, NM_001004056.2:c.1538del, NM_001004056.1:c.1538del, NM_001350173.2:c.1052del, NM_001350173.1:c.1052del, XM_005247962.4:c.1001del, XM_005247962.3:c.1001del, XM_005247962.2:c.1001del, XM_005247962.1:c.1001del, XM_011513448.3:c.1751del, XM_011513448.2:c.1751del, XM_011513448.1:c.1751del, XM_011513452.3:c.1613del, XM_011513452.2:c.1613del, XM_011513452.1:c.1613del, XM_011513447.3:c.1751del, XM_011513447.2:c.1751del, XM_011513447.1:c.1751del, XM_011513449.3:c.1655del, XM_011513449.2:c.1655del, XM_011513449.1:c.1655del, XM_011513451.3:c.1613del, XM_011513451.2:c.1613del, XM_011513451.1:c.1613del, XM_017008052.2:c.1673del, XM_017008052.1:c.1673del, XM_017008053.2:c.1661del, XM_017008053.1:c.1661del, XM_047450126.1:c.1001del, XM_047450125.1:c.1001del, XM_047450124.1:c.1052del, NP_892027.2:p.Pro545fs, NP_001004056.1:p.Pro513fs, NP_001337102.1:p.Pro351fs, XP_005248019.1:p.Pro334fs, XP_011511750.1:p.Pro584fs, XP_011511754.1:p.Pro538fs, XP_011511749.1:p.Pro584fs, XP_011511751.1:p.Pro552fs, XP_011511753.1:p.Pro538fs, XP_016863541.1:p.Pro558fs, XP_016863542.1:p.Pro554fs, XP_047306082.1:p.Pro334fs, XP_047306081.1:p.Pro334fs, XP_047306080.1:p.Pro351fs

                          13.

                          rs1459348324 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            4:2964116 (GRCh38)
                            4:2965843 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:2964115:C:T
                            Gene:
                            GRK4 (Varview), NOP14 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            T=0.0011/2 (Korea1K)
                            HGVS:
                            NC_000004.12:g.2964116C>T, NC_000004.11:g.2965843C>T, NG_029102.1:g.5501C>T, NM_182982.3:c.46C>T, NM_182982.2:c.46C>T, NM_005307.3:c.46C>T, NM_005307.2:c.46C>T, NM_005307.1:c.46C>T, NM_001004056.2:c.46C>T, NM_001004056.1:c.46C>T, NM_001004057.2:c.46C>T, NM_001004057.1:c.46C>T, NM_001350173.2:c.-292C>T, NM_001350173.1:c.-292C>T, XM_005247962.4:c.-379C>T, XM_005247962.3:c.-379C>T, XM_005247962.2:c.-379C>T, XM_005247962.1:c.-379C>T, XM_011513448.3:c.46C>T, XM_011513448.2:c.46C>T, XM_011513448.1:c.46C>T, XM_011513452.3:c.46C>T, XM_011513452.2:c.46C>T, XM_011513452.1:c.46C>T, XM_011513447.3:c.46C>T, XM_011513447.2:c.46C>T, XM_011513447.1:c.46C>T, XM_011513449.3:c.46C>T, XM_011513449.2:c.46C>T, XM_011513449.1:c.46C>T, XM_011513451.3:c.46C>T, XM_011513451.2:c.46C>T, XM_011513451.1:c.46C>T, XM_011513450.3:c.46C>T, XM_011513450.2:c.46C>T, XM_011513450.1:c.46C>T, XR_924941.3:n.546C>T, XR_924941.2:n.613C>T, XR_924941.1:n.612C>T, XM_011513454.3:c.46C>T, XM_011513454.2:c.46C>T, XM_011513454.1:c.46C>T, XM_011513453.3:c.46C>T, XM_011513453.2:c.46C>T, XM_011513453.1:c.46C>T, XM_011513455.3:c.46C>T, XM_011513455.2:c.46C>T, XM_011513455.1:c.46C>T, XM_011513456.3:c.46C>T, XM_011513456.2:c.46C>T, XM_011513456.1:c.46C>T, XM_011513457.3:c.46C>T, XM_011513457.2:c.46C>T, XM_011513457.1:c.46C>T, XM_017008052.2:c.46C>T, XM_017008052.1:c.46C>T, XM_017008053.2:c.46C>T, XM_017008053.1:c.46C>T, XM_017008054.2:c.46C>T, XM_017008054.1:c.46C>T, XM_017008055.2:c.46C>T, XM_017008055.1:c.46C>T, XM_017008056.2:c.46C>T, XM_017008056.1:c.46C>T, XR_001741210.2:n.546C>T, XR_001741210.1:n.613C>T, XM_047450127.1:c.46C>T, XM_047450128.1:c.46C>T, NP_892027.2:p.Arg16Cys, NP_005298.2:p.Arg16Cys, NP_001004056.1:p.Arg16Cys, NP_001004057.1:p.Arg16Cys, XP_011511750.1:p.Arg16Cys, XP_011511754.1:p.Arg16Cys, XP_011511749.1:p.Arg16Cys, XP_011511751.1:p.Arg16Cys, XP_011511753.1:p.Arg16Cys, XP_011511752.1:p.Arg16Cys, XP_011511756.1:p.Arg16Cys, XP_011511755.1:p.Arg16Cys, XP_011511757.1:p.Arg16Cys, XP_011511758.1:p.Arg16Cys, XP_011511759.1:p.Arg16Cys, XP_016863541.1:p.Arg16Cys, XP_016863542.1:p.Arg16Cys, XP_016863543.1:p.Arg16Cys, XP_016863544.1:p.Arg16Cys, XP_016863545.1:p.Arg16Cys, XP_047306083.1:p.Arg16Cys, XP_047306084.1:p.Arg16Cys

                            14.

                            rs1459103207 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              G>- [Show Flanks]
                              Chromosome:
                              4:2992236 (GRCh38)
                              4:2993963 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:2992235:G:
                              Gene:
                              GRK4 (Varview)
                              Functional Consequence:
                              frameshift_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              -=0./0 (ALFA)
                              -=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000004.12:g.2992236del, NC_000004.11:g.2993963del, NG_029102.1:g.33621del, NM_182982.3:c.283del, NM_182982.2:c.283del, NM_005307.3:c.187del, NM_005307.2:c.187del, NM_005307.1:c.187del, NM_001004056.2:c.187del, NM_001004056.1:c.187del, NM_001004057.2:c.283del, NM_001004057.1:c.283del, NM_001350173.2:c.-264del, NM_001350173.1:c.-264del, XM_005247962.4:c.-351del, XM_005247962.3:c.-351del, XM_005247962.2:c.-351del, XM_005247962.1:c.-351del, XM_011513448.3:c.283del, XM_011513448.2:c.283del, XM_011513448.1:c.283del, XM_011513452.3:c.283del, XM_011513452.2:c.283del, XM_011513452.1:c.283del, XM_011513447.3:c.283del, XM_011513447.2:c.283del, XM_011513447.1:c.283del, XM_011513449.3:c.187del, XM_011513449.2:c.187del, XM_011513449.1:c.187del, XM_011513451.3:c.283del, XM_011513451.2:c.283del, XM_011513451.1:c.283del, XM_011513450.3:c.283del, XM_011513450.2:c.283del, XM_011513450.1:c.283del, XR_924941.3:n.783del, XR_924941.2:n.850del, XR_924941.1:n.849del, XM_011513454.3:c.283del, XM_011513454.2:c.283del, XM_011513454.1:c.283del, XM_011513453.3:c.283del, XM_011513453.2:c.283del, XM_011513453.1:c.283del, XM_011513455.3:c.283del, XM_011513455.2:c.283del, XM_011513455.1:c.283del, XM_011513456.3:c.283del, XM_011513456.2:c.283del, XM_011513456.1:c.283del, XM_011513457.3:c.283del, XM_011513457.2:c.283del, XM_011513457.1:c.283del, XM_017008053.2:c.283del, XM_017008053.1:c.283del, XM_017008054.2:c.283del, XM_017008054.1:c.283del, XM_017008055.2:c.187del, XM_017008055.1:c.187del, XM_017008056.2:c.283del, XM_017008056.1:c.283del, XR_001741210.2:n.783del, XR_001741210.1:n.850del, XM_047450126.1:c.-468del, XM_047450125.1:c.-351del, XM_047450127.1:c.283del, XM_047450128.1:c.283del, NP_892027.2:p.Asp95fs, NP_005298.2:p.Asp63fs, NP_001004056.1:p.Asp63fs, NP_001004057.1:p.Asp95fs, XP_011511750.1:p.Asp95fs, XP_011511754.1:p.Asp95fs, XP_011511749.1:p.Asp95fs, XP_011511751.1:p.Asp63fs, XP_011511753.1:p.Asp95fs, XP_011511752.1:p.Asp95fs, XP_011511756.1:p.Asp95fs, XP_011511755.1:p.Asp95fs, XP_011511757.1:p.Asp95fs, XP_011511758.1:p.Asp95fs, XP_011511759.1:p.Asp95fs, XP_016863542.1:p.Asp95fs, XP_016863543.1:p.Asp95fs, XP_016863544.1:p.Asp63fs, XP_016863545.1:p.Asp95fs, XP_047306083.1:p.Asp95fs, XP_047306084.1:p.Asp95fs

                              15.

                              rs1459012921 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                4:3029258 (GRCh38)
                                4:3030985 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:3029257:G:A,NC_000004.12:3029257:G:T
                                Gene:
                                GRK4 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                                HGVS:
                                NC_000004.12:g.3029258G>A, NC_000004.12:g.3029258G>T, NC_000004.11:g.3030985G>A, NC_000004.11:g.3030985G>T, NG_029102.1:g.70643G>A, NG_029102.1:g.70643G>T, NM_182982.3:c.1118G>A, NM_182982.3:c.1118G>T, NM_182982.2:c.1118G>A, NM_182982.2:c.1118G>T, NM_005307.3:c.1022G>A, NM_005307.3:c.1022G>T, NM_005307.2:c.1022G>A, NM_005307.2:c.1022G>T, NM_005307.1:c.1022G>A, NM_005307.1:c.1022G>T, NM_001004056.2:c.1022G>A, NM_001004056.2:c.1022G>T, NM_001004056.1:c.1022G>A, NM_001004056.1:c.1022G>T, NM_001004057.2:c.1118G>A, NM_001004057.2:c.1118G>T, NM_001004057.1:c.1118G>A, NM_001004057.1:c.1118G>T, NM_001350173.2:c.536G>A, NM_001350173.2:c.536G>T, NM_001350173.1:c.536G>A, NM_001350173.1:c.536G>T, XM_005247962.4:c.485G>A, XM_005247962.4:c.485G>T, XM_005247962.3:c.485G>A, XM_005247962.3:c.485G>T, XM_005247962.2:c.485G>A, XM_005247962.2:c.485G>T, XM_005247962.1:c.485G>A, XM_005247962.1:c.485G>T, XM_011513448.3:c.1235G>A, XM_011513448.3:c.1235G>T, XM_011513448.2:c.1235G>A, XM_011513448.2:c.1235G>T, XM_011513448.1:c.1235G>A, XM_011513448.1:c.1235G>T, XM_011513452.3:c.1235G>A, XM_011513452.3:c.1235G>T, XM_011513452.2:c.1235G>A, XM_011513452.2:c.1235G>T, XM_011513452.1:c.1235G>A, XM_011513452.1:c.1235G>T, XM_011513447.3:c.1235G>A, XM_011513447.3:c.1235G>T, XM_011513447.2:c.1235G>A, XM_011513447.2:c.1235G>T, XM_011513447.1:c.1235G>A, XM_011513447.1:c.1235G>T, XM_011513449.3:c.1139G>A, XM_011513449.3:c.1139G>T, XM_011513449.2:c.1139G>A, XM_011513449.2:c.1139G>T, XM_011513449.1:c.1139G>A, XM_011513449.1:c.1139G>T, XM_011513451.3:c.1235G>A, XM_011513451.3:c.1235G>T, XM_011513451.2:c.1235G>A, XM_011513451.2:c.1235G>T, XM_011513451.1:c.1235G>A, XM_011513451.1:c.1235G>T, XM_011513450.3:c.1235G>A, XM_011513450.3:c.1235G>T, XM_011513450.2:c.1235G>A, XM_011513450.2:c.1235G>T, XM_011513450.1:c.1235G>A, XM_011513450.1:c.1235G>T, XR_924941.3:n.1735G>A, XR_924941.3:n.1735G>T, XR_924941.2:n.1802G>A, XR_924941.2:n.1802G>T, XR_924941.1:n.1801G>A, XR_924941.1:n.1801G>T, XM_011513454.3:c.1235G>A, XM_011513454.3:c.1235G>T, XM_011513454.2:c.1235G>A, XM_011513454.2:c.1235G>T, XM_011513454.1:c.1235G>A, XM_011513454.1:c.1235G>T, XM_011513453.3:c.1235G>A, XM_011513453.3:c.1235G>T, XM_011513453.2:c.1235G>A, XM_011513453.2:c.1235G>T, XM_011513453.1:c.1235G>A, XM_011513453.1:c.1235G>T, XM_011513455.3:c.1235G>A, XM_011513455.3:c.1235G>T, XM_011513455.2:c.1235G>A, XM_011513455.2:c.1235G>T, XM_011513455.1:c.1235G>A, XM_011513455.1:c.1235G>T, XM_017008052.2:c.1157G>A, XM_017008052.2:c.1157G>T, XM_017008052.1:c.1157G>A, XM_017008052.1:c.1157G>T, XM_017008053.2:c.1145G>A, XM_017008053.2:c.1145G>T, XM_017008053.1:c.1145G>A, XM_017008053.1:c.1145G>T, XM_017008054.2:c.1118G>A, XM_017008054.2:c.1118G>T, XM_017008054.1:c.1118G>A, XM_017008054.1:c.1118G>T, XM_017008055.2:c.1022G>A, XM_017008055.2:c.1022G>T, XM_017008055.1:c.1022G>A, XM_017008055.1:c.1022G>T, XM_017008056.2:c.1118G>A, XM_017008056.2:c.1118G>T, XM_017008056.1:c.1118G>A, XM_017008056.1:c.1118G>T, XM_047450126.1:c.485G>A, XM_047450126.1:c.485G>T, XM_047450125.1:c.485G>A, XM_047450125.1:c.485G>T, XM_047450124.1:c.536G>A, XM_047450124.1:c.536G>T, NP_892027.2:p.Gly373Asp, NP_892027.2:p.Gly373Val, NP_005298.2:p.Gly341Asp, NP_005298.2:p.Gly341Val, NP_001004056.1:p.Gly341Asp, NP_001004056.1:p.Gly341Val, NP_001004057.1:p.Gly373Asp, NP_001004057.1:p.Gly373Val, NP_001337102.1:p.Gly179Asp, NP_001337102.1:p.Gly179Val, XP_005248019.1:p.Gly162Asp, XP_005248019.1:p.Gly162Val, XP_011511750.1:p.Gly412Asp, XP_011511750.1:p.Gly412Val, XP_011511754.1:p.Gly412Asp, XP_011511754.1:p.Gly412Val, XP_011511749.1:p.Gly412Asp, XP_011511749.1:p.Gly412Val, XP_011511751.1:p.Gly380Asp, XP_011511751.1:p.Gly380Val, XP_011511753.1:p.Gly412Asp, XP_011511753.1:p.Gly412Val, XP_011511752.1:p.Gly412Asp, XP_011511752.1:p.Gly412Val, XP_011511756.1:p.Gly412Asp, XP_011511756.1:p.Gly412Val, XP_011511755.1:p.Gly412Asp, XP_011511755.1:p.Gly412Val, XP_011511757.1:p.Gly412Asp, XP_011511757.1:p.Gly412Val, XP_016863541.1:p.Gly386Asp, XP_016863541.1:p.Gly386Val, XP_016863542.1:p.Gly382Asp, XP_016863542.1:p.Gly382Val, XP_016863543.1:p.Gly373Asp, XP_016863543.1:p.Gly373Val, XP_016863544.1:p.Gly341Asp, XP_016863544.1:p.Gly341Val, XP_016863545.1:p.Gly373Asp, XP_016863545.1:p.Gly373Val, XP_047306082.1:p.Gly162Asp, XP_047306082.1:p.Gly162Val, XP_047306081.1:p.Gly162Asp, XP_047306081.1:p.Gly162Val, XP_047306080.1:p.Gly179Asp, XP_047306080.1:p.Gly179Val

                                16.

                                rs1458232733 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  4:3013768 (GRCh38)
                                  4:3015495 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:3013767:A:G
                                  Gene:
                                  GRK4 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  NC_000004.12:g.3013768A>G, NC_000004.11:g.3015495A>G, NG_029102.1:g.55153A>G, NM_182982.3:c.681A>G, NM_182982.2:c.681A>G, NM_005307.3:c.585A>G, NM_005307.2:c.585A>G, NM_005307.1:c.585A>G, NM_001004056.2:c.585A>G, NM_001004056.1:c.585A>G, NM_001004057.2:c.681A>G, NM_001004057.1:c.681A>G, NM_001350173.2:c.99A>G, NM_001350173.1:c.99A>G, XM_005247962.4:c.48A>G, XM_005247962.3:c.48A>G, XM_005247962.2:c.48A>G, XM_005247962.1:c.48A>G, XM_011513448.3:c.798A>G, XM_011513448.2:c.798A>G, XM_011513448.1:c.798A>G, XM_011513452.3:c.798A>G, XM_011513452.2:c.798A>G, XM_011513452.1:c.798A>G, XM_011513447.3:c.798A>G, XM_011513447.2:c.798A>G, XM_011513447.1:c.798A>G, XM_011513449.3:c.702A>G, XM_011513449.2:c.702A>G, XM_011513449.1:c.702A>G, XM_011513451.3:c.798A>G, XM_011513451.2:c.798A>G, XM_011513451.1:c.798A>G, XM_011513450.3:c.798A>G, XM_011513450.2:c.798A>G, XM_011513450.1:c.798A>G, XR_924941.3:n.1298A>G, XR_924941.2:n.1365A>G, XR_924941.1:n.1364A>G, XM_011513454.3:c.798A>G, XM_011513454.2:c.798A>G, XM_011513454.1:c.798A>G, XM_011513453.3:c.798A>G, XM_011513453.2:c.798A>G, XM_011513453.1:c.798A>G, XM_011513455.3:c.798A>G, XM_011513455.2:c.798A>G, XM_011513455.1:c.798A>G, XM_011513456.3:c.798A>G, XM_011513456.2:c.798A>G, XM_011513456.1:c.798A>G, XM_011513457.3:c.798A>G, XM_011513457.2:c.798A>G, XM_011513457.1:c.798A>G, XM_017008052.2:c.720A>G, XM_017008052.1:c.720A>G, XM_017008053.2:c.798A>G, XM_017008053.1:c.798A>G, XM_017008054.2:c.681A>G, XM_017008054.1:c.681A>G, XM_017008055.2:c.585A>G, XM_017008055.1:c.585A>G, XM_017008056.2:c.681A>G, XM_017008056.1:c.681A>G, XR_001741210.2:n.1298A>G, XR_001741210.1:n.1365A>G, XM_047450126.1:c.48A>G, XM_047450125.1:c.48A>G, XM_047450127.1:c.798A>G, XM_047450124.1:c.99A>G, XM_047450128.1:c.798A>G

                                  17.

                                  rs1456361790 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    4:3037421 (GRCh38)
                                    4:3039148 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:3037420:G:A
                                    Gene:
                                    GRK4 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000008/2 (GnomAD_exomes)
                                    A=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000004.12:g.3037421G>A, NC_000004.11:g.3039148G>A, NG_029102.1:g.78806G>A, NM_182982.3:c.1455G>A, NM_182982.2:c.1455G>A, NM_005307.3:c.1359G>A, NM_005307.2:c.1359G>A, NM_005307.1:c.1359G>A, NM_001004056.2:c.1359G>A, NM_001004056.1:c.1359G>A, NM_001004057.2:c.1455G>A, NM_001004057.1:c.1455G>A, NM_001350173.2:c.873G>A, NM_001350173.1:c.873G>A, XM_005247962.4:c.822G>A, XM_005247962.3:c.822G>A, XM_005247962.2:c.822G>A, XM_005247962.1:c.822G>A, XM_011513448.3:c.1572G>A, XM_011513448.2:c.1572G>A, XM_011513448.1:c.1572G>A, XM_011513452.3:c.1434G>A, XM_011513452.2:c.1434G>A, XM_011513452.1:c.1434G>A, XM_011513447.3:c.1572G>A, XM_011513447.2:c.1572G>A, XM_011513447.1:c.1572G>A, XM_011513449.3:c.1476G>A, XM_011513449.2:c.1476G>A, XM_011513449.1:c.1476G>A, XM_011513451.3:c.1434G>A, XM_011513451.2:c.1434G>A, XM_011513451.1:c.1434G>A, XM_011513450.3:c.1572G>A, XM_011513450.2:c.1572G>A, XM_011513450.1:c.1572G>A, XR_924941.3:n.2189G>A, XR_924941.2:n.2256G>A, XR_924941.1:n.2255G>A, XM_011513454.3:c.1434G>A, XM_011513454.2:c.1434G>A, XM_011513454.1:c.1434G>A, XM_017008052.2:c.1494G>A, XM_017008052.1:c.1494G>A, XM_017008053.2:c.1482G>A, XM_017008053.1:c.1482G>A, XM_017008054.2:c.1317G>A, XM_017008054.1:c.1317G>A, XM_017008055.2:c.1221G>A, XM_017008055.1:c.1221G>A, XM_047450126.1:c.822G>A, XM_047450125.1:c.822G>A, XM_047450124.1:c.873G>A

                                    18.

                                    rs1455332774 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      4:3029385 (GRCh38)
                                      4:3031112 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:3029384:G:A,NC_000004.12:3029384:G:C
                                      Gene:
                                      GRK4 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000004.12:g.3029385G>A, NC_000004.12:g.3029385G>C, NC_000004.11:g.3031112G>A, NC_000004.11:g.3031112G>C, NG_029102.1:g.70770G>A, NG_029102.1:g.70770G>C, NM_182982.3:c.1245G>A, NM_182982.3:c.1245G>C, NM_182982.2:c.1245G>A, NM_182982.2:c.1245G>C, NM_005307.3:c.1149G>A, NM_005307.3:c.1149G>C, NM_005307.2:c.1149G>A, NM_005307.2:c.1149G>C, NM_005307.1:c.1149G>A, NM_005307.1:c.1149G>C, NM_001004056.2:c.1149G>A, NM_001004056.2:c.1149G>C, NM_001004056.1:c.1149G>A, NM_001004056.1:c.1149G>C, NM_001004057.2:c.1245G>A, NM_001004057.2:c.1245G>C, NM_001004057.1:c.1245G>A, NM_001004057.1:c.1245G>C, NM_001350173.2:c.663G>A, NM_001350173.2:c.663G>C, NM_001350173.1:c.663G>A, NM_001350173.1:c.663G>C, XM_005247962.4:c.612G>A, XM_005247962.4:c.612G>C, XM_005247962.3:c.612G>A, XM_005247962.3:c.612G>C, XM_005247962.2:c.612G>A, XM_005247962.2:c.612G>C, XM_005247962.1:c.612G>A, XM_005247962.1:c.612G>C, XM_011513448.3:c.1362G>A, XM_011513448.3:c.1362G>C, XM_011513448.2:c.1362G>A, XM_011513448.2:c.1362G>C, XM_011513448.1:c.1362G>A, XM_011513448.1:c.1362G>C, XM_011513452.3:c.1362G>A, XM_011513452.3:c.1362G>C, XM_011513452.2:c.1362G>A, XM_011513452.2:c.1362G>C, XM_011513452.1:c.1362G>A, XM_011513452.1:c.1362G>C, XM_011513447.3:c.1362G>A, XM_011513447.3:c.1362G>C, XM_011513447.2:c.1362G>A, XM_011513447.2:c.1362G>C, XM_011513447.1:c.1362G>A, XM_011513447.1:c.1362G>C, XM_011513449.3:c.1266G>A, XM_011513449.3:c.1266G>C, XM_011513449.2:c.1266G>A, XM_011513449.2:c.1266G>C, XM_011513449.1:c.1266G>A, XM_011513449.1:c.1266G>C, XM_011513451.3:c.1362G>A, XM_011513451.3:c.1362G>C, XM_011513451.2:c.1362G>A, XM_011513451.2:c.1362G>C, XM_011513451.1:c.1362G>A, XM_011513451.1:c.1362G>C, XM_011513450.3:c.1362G>A, XM_011513450.3:c.1362G>C, XM_011513450.2:c.1362G>A, XM_011513450.2:c.1362G>C, XM_011513450.1:c.1362G>A, XM_011513450.1:c.1362G>C, XR_924941.3:n.1862G>A, XR_924941.3:n.1862G>C, XR_924941.2:n.1929G>A, XR_924941.2:n.1929G>C, XR_924941.1:n.1928G>A, XR_924941.1:n.1928G>C, XM_011513454.3:c.1362G>A, XM_011513454.3:c.1362G>C, XM_011513454.2:c.1362G>A, XM_011513454.2:c.1362G>C, XM_011513454.1:c.1362G>A, XM_011513454.1:c.1362G>C, XM_011513453.3:c.1362G>A, XM_011513453.3:c.1362G>C, XM_011513453.2:c.1362G>A, XM_011513453.2:c.1362G>C, XM_011513453.1:c.1362G>A, XM_011513453.1:c.1362G>C, XM_011513455.3:c.1362G>A, XM_011513455.3:c.1362G>C, XM_011513455.2:c.1362G>A, XM_011513455.2:c.1362G>C, XM_011513455.1:c.1362G>A, XM_011513455.1:c.1362G>C, XM_017008052.2:c.1284G>A, XM_017008052.2:c.1284G>C, XM_017008052.1:c.1284G>A, XM_017008052.1:c.1284G>C, XM_017008053.2:c.1272G>A, XM_017008053.2:c.1272G>C, XM_017008053.1:c.1272G>A, XM_017008053.1:c.1272G>C, XM_017008054.2:c.1245G>A, XM_017008054.2:c.1245G>C, XM_017008054.1:c.1245G>A, XM_017008054.1:c.1245G>C, XM_017008055.2:c.1149G>A, XM_017008055.2:c.1149G>C, XM_017008055.1:c.1149G>A, XM_017008055.1:c.1149G>C, XM_017008056.2:c.1245G>A, XM_017008056.2:c.1245G>C, XM_017008056.1:c.1245G>A, XM_017008056.1:c.1245G>C, XM_047450126.1:c.612G>A, XM_047450126.1:c.612G>C, XM_047450125.1:c.612G>A, XM_047450125.1:c.612G>C, XM_047450124.1:c.663G>A, XM_047450124.1:c.663G>C, NP_892027.2:p.Glu415Asp, NP_005298.2:p.Glu383Asp, NP_001004056.1:p.Glu383Asp, NP_001004057.1:p.Glu415Asp, NP_001337102.1:p.Glu221Asp, XP_005248019.1:p.Glu204Asp, XP_011511750.1:p.Glu454Asp, XP_011511754.1:p.Glu454Asp, XP_011511749.1:p.Glu454Asp, XP_011511751.1:p.Glu422Asp, XP_011511753.1:p.Glu454Asp, XP_011511752.1:p.Glu454Asp, XP_011511756.1:p.Glu454Asp, XP_011511755.1:p.Glu454Asp, XP_011511757.1:p.Glu454Asp, XP_016863541.1:p.Glu428Asp, XP_016863542.1:p.Glu424Asp, XP_016863543.1:p.Glu415Asp, XP_016863544.1:p.Glu383Asp, XP_016863545.1:p.Glu415Asp, XP_047306082.1:p.Glu204Asp, XP_047306081.1:p.Glu204Asp, XP_047306080.1:p.Glu221Asp

                                      19.

                                      rs1451518141 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        4:3013751 (GRCh38)
                                        4:3015478 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:3013750:A:G
                                        Gene:
                                        GRK4 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        HGVS:
                                        NC_000004.12:g.3013751A>G, NC_000004.11:g.3015478A>G, NG_029102.1:g.55136A>G, NM_182982.3:c.664A>G, NM_182982.2:c.664A>G, NM_005307.3:c.568A>G, NM_005307.2:c.568A>G, NM_005307.1:c.568A>G, NM_001004056.2:c.568A>G, NM_001004056.1:c.568A>G, NM_001004057.2:c.664A>G, NM_001004057.1:c.664A>G, NM_001350173.2:c.82A>G, NM_001350173.1:c.82A>G, XM_005247962.4:c.31A>G, XM_005247962.3:c.31A>G, XM_005247962.2:c.31A>G, XM_005247962.1:c.31A>G, XM_011513448.3:c.781A>G, XM_011513448.2:c.781A>G, XM_011513448.1:c.781A>G, XM_011513452.3:c.781A>G, XM_011513452.2:c.781A>G, XM_011513452.1:c.781A>G, XM_011513447.3:c.781A>G, XM_011513447.2:c.781A>G, XM_011513447.1:c.781A>G, XM_011513449.3:c.685A>G, XM_011513449.2:c.685A>G, XM_011513449.1:c.685A>G, XM_011513451.3:c.781A>G, XM_011513451.2:c.781A>G, XM_011513451.1:c.781A>G, XM_011513450.3:c.781A>G, XM_011513450.2:c.781A>G, XM_011513450.1:c.781A>G, XR_924941.3:n.1281A>G, XR_924941.2:n.1348A>G, XR_924941.1:n.1347A>G, XM_011513454.3:c.781A>G, XM_011513454.2:c.781A>G, XM_011513454.1:c.781A>G, XM_011513453.3:c.781A>G, XM_011513453.2:c.781A>G, XM_011513453.1:c.781A>G, XM_011513455.3:c.781A>G, XM_011513455.2:c.781A>G, XM_011513455.1:c.781A>G, XM_011513456.3:c.781A>G, XM_011513456.2:c.781A>G, XM_011513456.1:c.781A>G, XM_011513457.3:c.781A>G, XM_011513457.2:c.781A>G, XM_011513457.1:c.781A>G, XM_017008052.2:c.703A>G, XM_017008052.1:c.703A>G, XM_017008053.2:c.781A>G, XM_017008053.1:c.781A>G, XM_017008054.2:c.664A>G, XM_017008054.1:c.664A>G, XM_017008055.2:c.568A>G, XM_017008055.1:c.568A>G, XM_017008056.2:c.664A>G, XM_017008056.1:c.664A>G, XR_001741210.2:n.1281A>G, XR_001741210.1:n.1348A>G, XM_047450126.1:c.31A>G, XM_047450125.1:c.31A>G, XM_047450127.1:c.781A>G, XM_047450124.1:c.82A>G, XM_047450128.1:c.781A>G, NP_892027.2:p.Arg222Gly, NP_005298.2:p.Arg190Gly, NP_001004056.1:p.Arg190Gly, NP_001004057.1:p.Arg222Gly, NP_001337102.1:p.Arg28Gly, XP_005248019.1:p.Arg11Gly, XP_011511750.1:p.Arg261Gly, XP_011511754.1:p.Arg261Gly, XP_011511749.1:p.Arg261Gly, XP_011511751.1:p.Arg229Gly, XP_011511753.1:p.Arg261Gly, XP_011511752.1:p.Arg261Gly, XP_011511756.1:p.Arg261Gly, XP_011511755.1:p.Arg261Gly, XP_011511757.1:p.Arg261Gly, XP_011511758.1:p.Arg261Gly, XP_011511759.1:p.Arg261Gly, XP_016863541.1:p.Arg235Gly, XP_016863542.1:p.Arg261Gly, XP_016863543.1:p.Arg222Gly, XP_016863544.1:p.Arg190Gly, XP_016863545.1:p.Arg222Gly, XP_047306082.1:p.Arg11Gly, XP_047306081.1:p.Arg11Gly, XP_047306083.1:p.Arg261Gly, XP_047306080.1:p.Arg28Gly, XP_047306084.1:p.Arg261Gly

                                        20.

                                        rs1451309352 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          4:3009649 (GRCh38)
                                          4:3011376 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:3009648:C:A,NC_000004.12:3009648:C:T
                                          Gene:
                                          GRK4 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,stop_gained
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:
                                          NC_000004.12:g.3009649C>A, NC_000004.12:g.3009649C>T, NC_000004.11:g.3011376C>A, NC_000004.11:g.3011376C>T, NG_029102.1:g.51034C>A, NG_029102.1:g.51034C>T, NM_182982.3:c.538C>A, NM_182982.3:c.538C>T, NM_182982.2:c.538C>A, NM_182982.2:c.538C>T, NM_005307.3:c.442C>A, NM_005307.3:c.442C>T, NM_005307.2:c.442C>A, NM_005307.2:c.442C>T, NM_005307.1:c.442C>A, NM_005307.1:c.442C>T, NM_001004056.2:c.442C>A, NM_001004056.2:c.442C>T, NM_001004056.1:c.442C>A, NM_001004056.1:c.442C>T, NM_001004057.2:c.538C>A, NM_001004057.2:c.538C>T, NM_001004057.1:c.538C>A, NM_001004057.1:c.538C>T, NG_083270.1:g.317C>A, NG_083270.1:g.317C>T, XM_005247962.4:c.-96C>A, XM_005247962.4:c.-96C>T, XM_005247962.3:c.-96C>A, XM_005247962.3:c.-96C>T, XM_005247962.2:c.-96C>A, XM_005247962.2:c.-96C>T, XM_005247962.1:c.-96C>A, XM_005247962.1:c.-96C>T, XM_011513448.3:c.538C>A, XM_011513448.3:c.538C>T, XM_011513448.2:c.538C>A, XM_011513448.2:c.538C>T, XM_011513448.1:c.538C>A, XM_011513448.1:c.538C>T, XM_011513452.3:c.538C>A, XM_011513452.3:c.538C>T, XM_011513452.2:c.538C>A, XM_011513452.2:c.538C>T, XM_011513452.1:c.538C>A, XM_011513452.1:c.538C>T, XM_011513447.3:c.538C>A, XM_011513447.3:c.538C>T, XM_011513447.2:c.538C>A, XM_011513447.2:c.538C>T, XM_011513447.1:c.538C>A, XM_011513447.1:c.538C>T, XM_011513449.3:c.442C>A, XM_011513449.3:c.442C>T, XM_011513449.2:c.442C>A, XM_011513449.2:c.442C>T, XM_011513449.1:c.442C>A, XM_011513449.1:c.442C>T, XM_011513451.3:c.538C>A, XM_011513451.3:c.538C>T, XM_011513451.2:c.538C>A, XM_011513451.2:c.538C>T, XM_011513451.1:c.538C>A, XM_011513451.1:c.538C>T, XM_011513450.3:c.538C>A, XM_011513450.3:c.538C>T, XM_011513450.2:c.538C>A, XM_011513450.2:c.538C>T, XM_011513450.1:c.538C>A, XM_011513450.1:c.538C>T, XR_924941.3:n.1038C>A, XR_924941.3:n.1038C>T, XR_924941.2:n.1105C>A, XR_924941.2:n.1105C>T, XR_924941.1:n.1104C>A, XR_924941.1:n.1104C>T, XM_011513454.3:c.538C>A, XM_011513454.3:c.538C>T, XM_011513454.2:c.538C>A, XM_011513454.2:c.538C>T, XM_011513454.1:c.538C>A, XM_011513454.1:c.538C>T, XM_011513453.3:c.538C>A, XM_011513453.3:c.538C>T, XM_011513453.2:c.538C>A, XM_011513453.2:c.538C>T, XM_011513453.1:c.538C>A, XM_011513453.1:c.538C>T, XM_011513455.3:c.538C>A, XM_011513455.3:c.538C>T, XM_011513455.2:c.538C>A, XM_011513455.2:c.538C>T, XM_011513455.1:c.538C>A, XM_011513455.1:c.538C>T, XM_011513456.3:c.538C>A, XM_011513456.3:c.538C>T, XM_011513456.2:c.538C>A, XM_011513456.2:c.538C>T, XM_011513456.1:c.538C>A, XM_011513456.1:c.538C>T, XM_011513457.3:c.538C>A, XM_011513457.3:c.538C>T, XM_011513457.2:c.538C>A, XM_011513457.2:c.538C>T, XM_011513457.1:c.538C>A, XM_011513457.1:c.538C>T, XM_017008052.2:c.460C>A, XM_017008052.2:c.460C>T, XM_017008052.1:c.460C>A, XM_017008052.1:c.460C>T, XM_017008053.2:c.538C>A, XM_017008053.2:c.538C>T, XM_017008053.1:c.538C>A, XM_017008053.1:c.538C>T, XM_017008054.2:c.538C>A, XM_017008054.2:c.538C>T, XM_017008054.1:c.538C>A, XM_017008054.1:c.538C>T, XM_017008055.2:c.442C>A, XM_017008055.2:c.442C>T, XM_017008055.1:c.442C>A, XM_017008055.1:c.442C>T, XM_017008056.2:c.538C>A, XM_017008056.2:c.538C>T, XM_017008056.1:c.538C>A, XM_017008056.1:c.538C>T, XR_001741210.2:n.1038C>A, XR_001741210.2:n.1038C>T, XR_001741210.1:n.1105C>A, XR_001741210.1:n.1105C>T, XM_047450126.1:c.-213C>A, XM_047450126.1:c.-213C>T, XM_047450125.1:c.-96C>A, XM_047450125.1:c.-96C>T, XM_047450127.1:c.538C>A, XM_047450127.1:c.538C>T, XM_047450128.1:c.538C>A, XM_047450128.1:c.538C>T, NP_892027.2:p.Gln180Lys, NP_892027.2:p.Gln180Ter, NP_005298.2:p.Gln148Lys, NP_005298.2:p.Gln148Ter, NP_001004056.1:p.Gln148Lys, NP_001004056.1:p.Gln148Ter, NP_001004057.1:p.Gln180Lys, NP_001004057.1:p.Gln180Ter, XP_011511750.1:p.Gln180Lys, XP_011511750.1:p.Gln180Ter, XP_011511754.1:p.Gln180Lys, XP_011511754.1:p.Gln180Ter, XP_011511749.1:p.Gln180Lys, XP_011511749.1:p.Gln180Ter, XP_011511751.1:p.Gln148Lys, XP_011511751.1:p.Gln148Ter, XP_011511753.1:p.Gln180Lys, XP_011511753.1:p.Gln180Ter, XP_011511752.1:p.Gln180Lys, XP_011511752.1:p.Gln180Ter, XP_011511756.1:p.Gln180Lys, XP_011511756.1:p.Gln180Ter, XP_011511755.1:p.Gln180Lys, XP_011511755.1:p.Gln180Ter, XP_011511757.1:p.Gln180Lys, XP_011511757.1:p.Gln180Ter, XP_011511758.1:p.Gln180Lys, XP_011511758.1:p.Gln180Ter, XP_011511759.1:p.Gln180Lys, XP_011511759.1:p.Gln180Ter, XP_016863541.1:p.Gln154Lys, XP_016863541.1:p.Gln154Ter, XP_016863542.1:p.Gln180Lys, XP_016863542.1:p.Gln180Ter, XP_016863543.1:p.Gln180Lys, XP_016863543.1:p.Gln180Ter, XP_016863544.1:p.Gln148Lys, XP_016863544.1:p.Gln148Ter, XP_016863545.1:p.Gln180Lys, XP_016863545.1:p.Gln180Ter, XP_047306083.1:p.Gln180Lys, XP_047306083.1:p.Gln180Ter, XP_047306084.1:p.Gln180Lys, XP_047306084.1:p.Gln180Ter

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...