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Items: 1 to 20 of 664

2.

rs1490085123 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    2:33522013 (GRCh38)
    2:33747080 (GRCh37)
    Canonical SPDI:
    NC_000002.12:33522012:A:T
    Gene:
    RASGRP3 (Varview)
    Functional Consequence:
    stop_gained,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    HGVS:
    NC_000002.12:g.33522013A>T, NC_000002.11:g.33747080A>T, NG_053077.1:g.90666A>T, NM_170672.3:c.427A>T, NM_170672.2:c.427A>T, NM_015376.3:c.427A>T, NM_015376.2:c.427A>T, NM_001349975.2:c.427A>T, NM_001349975.1:c.427A>T, NM_001349978.2:c.427A>T, NM_001349978.1:c.427A>T, NM_001349977.2:c.427A>T, NM_001349977.1:c.427A>T, NM_001349980.2:c.427A>T, NM_001349980.1:c.427A>T, NM_001349979.2:c.427A>T, NM_001349979.1:c.427A>T, NM_001139488.2:c.427A>T, NM_001139488.1:c.427A>T, NM_001349981.2:c.427A>T, NM_001349981.1:c.427A>T, NM_001349976.2:c.427A>T, NM_001349976.1:c.427A>T, XM_011532746.4:c.427A>T, XM_011532746.3:c.427A>T, XM_011532746.2:c.427A>T, XM_011532746.1:c.427A>T, XM_011532748.4:c.427A>T, XM_011532748.3:c.427A>T, XM_011532748.2:c.427A>T, XM_011532748.1:c.136A>T, XM_017003761.3:c.427A>T, XM_017003761.2:c.427A>T, XM_017003761.1:c.427A>T, XM_047443878.1:c.427A>T, XM_047443877.1:c.427A>T, XM_047443879.1:c.427A>T, NP_733772.1:p.Lys143Ter, NP_056191.1:p.Lys143Ter, NP_001336904.1:p.Lys143Ter, NP_001336907.1:p.Lys143Ter, NP_001336906.1:p.Lys143Ter, NP_001336909.1:p.Lys143Ter, NP_001336908.1:p.Lys143Ter, NP_001132960.1:p.Lys143Ter, NP_001336910.1:p.Lys143Ter, NP_001336905.1:p.Lys143Ter, XP_011531048.1:p.Lys143Ter, XP_011531050.2:p.Lys143Ter, XP_016859250.1:p.Lys143Ter, XP_047299834.1:p.Lys143Ter, XP_047299833.1:p.Lys143Ter, XP_047299835.1:p.Lys143Ter
    3.

    rs1488685842 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      2:33543544 (GRCh38)
      2:33768611 (GRCh37)
      Canonical SPDI:
      NC_000002.12:33543543:T:G
      Gene:
      RASGRP3 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by cluster
      MAF:
      G=0.000007/1 (GnomAD)
      HGVS:
      NC_000002.12:g.33543544T>G, NC_000002.11:g.33768611T>G, NG_053077.1:g.112197T>G, NM_170672.3:c.1311T>G, NM_170672.2:c.1311T>G, NM_015376.3:c.1308T>G, NM_015376.2:c.1308T>G, NM_001349975.2:c.1311T>G, NM_001349975.1:c.1311T>G, NM_001349978.2:c.1308T>G, NM_001349978.1:c.1308T>G, NM_001349977.2:c.1311T>G, NM_001349977.1:c.1311T>G, NM_001349980.2:c.1308T>G, NM_001349980.1:c.1308T>G, NM_001349979.2:c.1308T>G, NM_001349979.1:c.1308T>G, NM_001139488.2:c.1311T>G, NM_001139488.1:c.1311T>G, NM_001349981.2:c.1308T>G, NM_001349981.1:c.1308T>G, NM_001349976.2:c.1311T>G, NM_001349976.1:c.1311T>G, XM_011532746.4:c.1311T>G, XM_011532746.3:c.1311T>G, XM_011532746.2:c.1311T>G, XM_011532746.1:c.1311T>G, XM_011532748.4:c.1311T>G, XM_011532748.3:c.1311T>G, XM_011532748.2:c.1311T>G, XM_011532748.1:c.1020T>G, XM_017003761.3:c.1311T>G, XM_017003761.2:c.1311T>G, XM_017003761.1:c.1311T>G, XM_047443878.1:c.1308T>G, XM_047443877.1:c.1311T>G, XM_047443879.1:c.1308T>G, NP_733772.1:p.Asp437Glu, NP_056191.1:p.Asp436Glu, NP_001336904.1:p.Asp437Glu, NP_001336907.1:p.Asp436Glu, NP_001336906.1:p.Asp437Glu, NP_001336909.1:p.Asp436Glu, NP_001336908.1:p.Asp436Glu, NP_001132960.1:p.Asp437Glu, NP_001336910.1:p.Asp436Glu, NP_001336905.1:p.Asp437Glu, XP_011531048.1:p.Asp437Glu, XP_011531050.2:p.Asp437Glu, XP_016859250.1:p.Asp437Glu, XP_047299834.1:p.Asp436Glu, XP_047299833.1:p.Asp437Glu, XP_047299835.1:p.Asp436Glu
      5.

      rs1486351349 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        2:33524502 (GRCh38)
        2:33749569 (GRCh37)
        Canonical SPDI:
        NC_000002.12:33524501:C:G,NC_000002.12:33524501:C:T
        Gene:
        RASGRP3 (Varview)
        Functional Consequence:
        stop_gained,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by cluster
        MAF:
        G=0.00004/1 (TOMMO)
        HGVS:
        NC_000002.12:g.33524502C>G, NC_000002.12:g.33524502C>T, NC_000002.11:g.33749569C>G, NC_000002.11:g.33749569C>T, NG_053077.1:g.93155C>G, NG_053077.1:g.93155C>T, NM_170672.3:c.761C>G, NM_170672.3:c.761C>T, NM_170672.2:c.761C>G, NM_170672.2:c.761C>T, NM_015376.3:c.761C>G, NM_015376.3:c.761C>T, NM_015376.2:c.761C>G, NM_015376.2:c.761C>T, NM_001349975.2:c.761C>G, NM_001349975.2:c.761C>T, NM_001349975.1:c.761C>G, NM_001349975.1:c.761C>T, NM_001349978.2:c.761C>G, NM_001349978.2:c.761C>T, NM_001349978.1:c.761C>G, NM_001349978.1:c.761C>T, NM_001349977.2:c.761C>G, NM_001349977.2:c.761C>T, NM_001349977.1:c.761C>G, NM_001349977.1:c.761C>T, NM_001349980.2:c.761C>G, NM_001349980.2:c.761C>T, NM_001349980.1:c.761C>G, NM_001349980.1:c.761C>T, NM_001349979.2:c.761C>G, NM_001349979.2:c.761C>T, NM_001349979.1:c.761C>G, NM_001349979.1:c.761C>T, NM_001139488.2:c.761C>G, NM_001139488.2:c.761C>T, NM_001139488.1:c.761C>G, NM_001139488.1:c.761C>T, NM_001349981.2:c.761C>G, NM_001349981.2:c.761C>T, NM_001349981.1:c.761C>G, NM_001349981.1:c.761C>T, NM_001349976.2:c.761C>G, NM_001349976.2:c.761C>T, NM_001349976.1:c.761C>G, NM_001349976.1:c.761C>T, XM_011532746.4:c.761C>G, XM_011532746.4:c.761C>T, XM_011532746.3:c.761C>G, XM_011532746.3:c.761C>T, XM_011532746.2:c.761C>G, XM_011532746.2:c.761C>T, XM_011532746.1:c.761C>G, XM_011532746.1:c.761C>T, XM_011532748.4:c.761C>G, XM_011532748.4:c.761C>T, XM_011532748.3:c.761C>G, XM_011532748.3:c.761C>T, XM_011532748.2:c.761C>G, XM_011532748.2:c.761C>T, XM_011532748.1:c.470C>G, XM_011532748.1:c.470C>T, XM_017003761.3:c.761C>G, XM_017003761.3:c.761C>T, XM_017003761.2:c.761C>G, XM_017003761.2:c.761C>T, XM_017003761.1:c.761C>G, XM_017003761.1:c.761C>T, XM_047443878.1:c.761C>G, XM_047443878.1:c.761C>T, XM_047443877.1:c.761C>G, XM_047443877.1:c.761C>T, XM_047443879.1:c.761C>G, XM_047443879.1:c.761C>T, NP_733772.1:p.Ser254Ter, NP_733772.1:p.Ser254Leu, NP_056191.1:p.Ser254Ter, NP_056191.1:p.Ser254Leu, NP_001336904.1:p.Ser254Ter, NP_001336904.1:p.Ser254Leu, NP_001336907.1:p.Ser254Ter, NP_001336907.1:p.Ser254Leu, NP_001336906.1:p.Ser254Ter, NP_001336906.1:p.Ser254Leu, NP_001336909.1:p.Ser254Ter, NP_001336909.1:p.Ser254Leu, NP_001336908.1:p.Ser254Ter, NP_001336908.1:p.Ser254Leu, NP_001132960.1:p.Ser254Ter, NP_001132960.1:p.Ser254Leu, NP_001336910.1:p.Ser254Ter, NP_001336910.1:p.Ser254Leu, NP_001336905.1:p.Ser254Ter, NP_001336905.1:p.Ser254Leu, XP_011531048.1:p.Ser254Ter, XP_011531048.1:p.Ser254Leu, XP_011531050.2:p.Ser254Ter, XP_011531050.2:p.Ser254Leu, XP_016859250.1:p.Ser254Ter, XP_016859250.1:p.Ser254Leu, XP_047299834.1:p.Ser254Ter, XP_047299834.1:p.Ser254Leu, XP_047299833.1:p.Ser254Ter, XP_047299833.1:p.Ser254Leu, XP_047299835.1:p.Ser254Ter, XP_047299835.1:p.Ser254Leu
        7.

        rs1485697457 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,G [Show Flanks]
          Chromosome:
          2:33534383 (GRCh38)
          2:33759450 (GRCh37)
          Canonical SPDI:
          NC_000002.12:33534382:C:A,NC_000002.12:33534382:C:G
          Gene:
          RASGRP3 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          G=0.000008/2 (TOPMED)
          HGVS:
          NC_000002.12:g.33534383C>A, NC_000002.12:g.33534383C>G, NC_000002.11:g.33759450C>A, NC_000002.11:g.33759450C>G, NG_053077.1:g.103036C>A, NG_053077.1:g.103036C>G, NM_170672.3:c.1144C>A, NM_170672.3:c.1144C>G, NM_170672.2:c.1144C>A, NM_170672.2:c.1144C>G, NM_015376.3:c.1144C>A, NM_015376.3:c.1144C>G, NM_015376.2:c.1144C>A, NM_015376.2:c.1144C>G, NM_001349975.2:c.1144C>A, NM_001349975.2:c.1144C>G, NM_001349975.1:c.1144C>A, NM_001349975.1:c.1144C>G, NM_001349978.2:c.1144C>A, NM_001349978.2:c.1144C>G, NM_001349978.1:c.1144C>A, NM_001349978.1:c.1144C>G, NM_001349977.2:c.1144C>A, NM_001349977.2:c.1144C>G, NM_001349977.1:c.1144C>A, NM_001349977.1:c.1144C>G, NM_001349980.2:c.1144C>A, NM_001349980.2:c.1144C>G, NM_001349980.1:c.1144C>A, NM_001349980.1:c.1144C>G, NM_001349979.2:c.1144C>A, NM_001349979.2:c.1144C>G, NM_001349979.1:c.1144C>A, NM_001349979.1:c.1144C>G, NM_001139488.2:c.1144C>A, NM_001139488.2:c.1144C>G, NM_001139488.1:c.1144C>A, NM_001139488.1:c.1144C>G, NM_001349981.2:c.1144C>A, NM_001349981.2:c.1144C>G, NM_001349981.1:c.1144C>A, NM_001349981.1:c.1144C>G, NM_001349976.2:c.1144C>A, NM_001349976.2:c.1144C>G, NM_001349976.1:c.1144C>A, NM_001349976.1:c.1144C>G, XM_011532746.4:c.1144C>A, XM_011532746.4:c.1144C>G, XM_011532746.3:c.1144C>A, XM_011532746.3:c.1144C>G, XM_011532746.2:c.1144C>A, XM_011532746.2:c.1144C>G, XM_011532746.1:c.1144C>A, XM_011532746.1:c.1144C>G, XM_011532748.4:c.1144C>A, XM_011532748.4:c.1144C>G, XM_011532748.3:c.1144C>A, XM_011532748.3:c.1144C>G, XM_011532748.2:c.1144C>A, XM_011532748.2:c.1144C>G, XM_011532748.1:c.853C>A, XM_011532748.1:c.853C>G, XM_017003761.3:c.1144C>A, XM_017003761.3:c.1144C>G, XM_017003761.2:c.1144C>A, XM_017003761.2:c.1144C>G, XM_017003761.1:c.1144C>A, XM_017003761.1:c.1144C>G, XM_047443878.1:c.1144C>A, XM_047443878.1:c.1144C>G, XM_047443877.1:c.1144C>A, XM_047443877.1:c.1144C>G, XM_047443879.1:c.1144C>A, XM_047443879.1:c.1144C>G, NP_733772.1:p.Pro382Thr, NP_733772.1:p.Pro382Ala, NP_056191.1:p.Pro382Thr, NP_056191.1:p.Pro382Ala, NP_001336904.1:p.Pro382Thr, NP_001336904.1:p.Pro382Ala, NP_001336907.1:p.Pro382Thr, NP_001336907.1:p.Pro382Ala, NP_001336906.1:p.Pro382Thr, NP_001336906.1:p.Pro382Ala, NP_001336909.1:p.Pro382Thr, NP_001336909.1:p.Pro382Ala, NP_001336908.1:p.Pro382Thr, NP_001336908.1:p.Pro382Ala, NP_001132960.1:p.Pro382Thr, NP_001132960.1:p.Pro382Ala, NP_001336910.1:p.Pro382Thr, NP_001336910.1:p.Pro382Ala, NP_001336905.1:p.Pro382Thr, NP_001336905.1:p.Pro382Ala, XP_011531048.1:p.Pro382Thr, XP_011531048.1:p.Pro382Ala, XP_011531050.2:p.Pro382Thr, XP_011531050.2:p.Pro382Ala, XP_016859250.1:p.Pro382Thr, XP_016859250.1:p.Pro382Ala, XP_047299834.1:p.Pro382Thr, XP_047299834.1:p.Pro382Ala, XP_047299833.1:p.Pro382Thr, XP_047299833.1:p.Pro382Ala, XP_047299835.1:p.Pro382Thr, XP_047299835.1:p.Pro382Ala
          8.

          rs1485532851 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C,T [Show Flanks]
            Chromosome:
            2:33558969 (GRCh38)
            2:33784036 (GRCh37)
            Canonical SPDI:
            NC_000002.12:33558968:A:C,NC_000002.12:33558968:A:T
            Gene:
            RASGRP3 (Varview), RASGRP3-AS1 (Varview)
            Functional Consequence:
            intron_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000002.12:g.33558969A>C, NC_000002.12:g.33558969A>T, NC_000002.11:g.33784036A>C, NC_000002.11:g.33784036A>T, NG_053077.1:g.127622A>C, NG_053077.1:g.127622A>T, NM_170672.3:c.2003A>C, NM_170672.3:c.2003A>T, NM_170672.2:c.2003A>C, NM_170672.2:c.2003A>T, NM_015376.3:c.2000A>C, NM_015376.3:c.2000A>T, NM_015376.2:c.2000A>C, NM_015376.2:c.2000A>T, NM_001349975.2:c.2003A>C, NM_001349975.2:c.2003A>T, NM_001349975.1:c.2003A>C, NM_001349975.1:c.2003A>T, NM_001349978.2:c.2000A>C, NM_001349978.2:c.2000A>T, NM_001349978.1:c.2000A>C, NM_001349978.1:c.2000A>T, NM_001349977.2:c.2003A>C, NM_001349977.2:c.2003A>T, NM_001349977.1:c.2003A>C, NM_001349977.1:c.2003A>T, NM_001349980.2:c.2000A>C, NM_001349980.2:c.2000A>T, NM_001349980.1:c.2000A>C, NM_001349980.1:c.2000A>T, NM_001349979.2:c.2000A>C, NM_001349979.2:c.2000A>T, NM_001349979.1:c.2000A>C, NM_001349979.1:c.2000A>T, NM_001139488.2:c.2003A>C, NM_001139488.2:c.2003A>T, NM_001139488.1:c.2003A>C, NM_001139488.1:c.2003A>T, NM_001349981.2:c.2000A>C, NM_001349981.2:c.2000A>T, NM_001349981.1:c.2000A>C, NM_001349981.1:c.2000A>T, NM_001349976.2:c.2003A>C, NM_001349976.2:c.2003A>T, NM_001349976.1:c.2003A>C, NM_001349976.1:c.2003A>T, XM_011532746.4:c.2003A>C, XM_011532746.4:c.2003A>T, XM_011532746.3:c.2003A>C, XM_011532746.3:c.2003A>T, XM_011532746.2:c.2003A>C, XM_011532746.2:c.2003A>T, XM_011532746.1:c.2003A>C, XM_011532746.1:c.2003A>T, XM_011532748.4:c.2003A>C, XM_011532748.4:c.2003A>T, XM_011532748.3:c.2003A>C, XM_011532748.3:c.2003A>T, XM_011532748.2:c.2003A>C, XM_011532748.2:c.2003A>T, XM_011532748.1:c.1712A>C, XM_011532748.1:c.1712A>T, XM_017003761.3:c.2003A>C, XM_017003761.3:c.2003A>T, XM_017003761.2:c.2003A>C, XM_017003761.2:c.2003A>T, XM_017003761.1:c.2003A>C, XM_017003761.1:c.2003A>T, XM_047443878.1:c.2000A>C, XM_047443878.1:c.2000A>T, XM_047443877.1:c.2003A>C, XM_047443877.1:c.2003A>T, XM_047443879.1:c.2000A>C, XM_047443879.1:c.2000A>T, NP_733772.1:p.Asp668Ala, NP_733772.1:p.Asp668Val, NP_056191.1:p.Asp667Ala, NP_056191.1:p.Asp667Val, NP_001336904.1:p.Asp668Ala, NP_001336904.1:p.Asp668Val, NP_001336907.1:p.Asp667Ala, NP_001336907.1:p.Asp667Val, NP_001336906.1:p.Asp668Ala, NP_001336906.1:p.Asp668Val, NP_001336909.1:p.Asp667Ala, NP_001336909.1:p.Asp667Val, NP_001336908.1:p.Asp667Ala, NP_001336908.1:p.Asp667Val, NP_001132960.1:p.Asp668Ala, NP_001132960.1:p.Asp668Val, NP_001336910.1:p.Asp667Ala, NP_001336910.1:p.Asp667Val, NP_001336905.1:p.Asp668Ala, NP_001336905.1:p.Asp668Val, XP_011531048.1:p.Asp668Ala, XP_011531048.1:p.Asp668Val, XP_011531050.2:p.Asp668Ala, XP_011531050.2:p.Asp668Val, XP_016859250.1:p.Asp668Ala, XP_016859250.1:p.Asp668Val, XP_047299834.1:p.Asp667Ala, XP_047299834.1:p.Asp667Val, XP_047299833.1:p.Asp668Ala, XP_047299833.1:p.Asp668Val, XP_047299835.1:p.Asp667Ala, XP_047299835.1:p.Asp667Val
            9.

            rs1485502441 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              2:33558826 (GRCh38)
              2:33783893 (GRCh37)
              Canonical SPDI:
              NC_000002.12:33558825:G:A
              Gene:
              RASGRP3 (Varview), RASGRP3-AS1 (Varview)
              Functional Consequence:
              stop_gained,intron_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000008/2 (TOPMED)
              A=0.000014/2 (GnomAD)
              HGVS:
              NC_000002.12:g.33558826G>A, NC_000002.11:g.33783893G>A, NG_053077.1:g.127479G>A, NM_170672.3:c.1860G>A, NM_170672.2:c.1860G>A, NM_015376.3:c.1857G>A, NM_015376.2:c.1857G>A, NM_001349975.2:c.1860G>A, NM_001349975.1:c.1860G>A, NM_001349978.2:c.1857G>A, NM_001349978.1:c.1857G>A, NM_001349977.2:c.1860G>A, NM_001349977.1:c.1860G>A, NM_001349980.2:c.1857G>A, NM_001349980.1:c.1857G>A, NM_001349979.2:c.1857G>A, NM_001349979.1:c.1857G>A, NM_001139488.2:c.1860G>A, NM_001139488.1:c.1860G>A, NM_001349981.2:c.1857G>A, NM_001349981.1:c.1857G>A, NM_001349976.2:c.1860G>A, NM_001349976.1:c.1860G>A, XM_011532746.4:c.1860G>A, XM_011532746.3:c.1860G>A, XM_011532746.2:c.1860G>A, XM_011532746.1:c.1860G>A, XM_011532748.4:c.1860G>A, XM_011532748.3:c.1860G>A, XM_011532748.2:c.1860G>A, XM_011532748.1:c.1569G>A, XM_017003761.3:c.1860G>A, XM_017003761.2:c.1860G>A, XM_017003761.1:c.1860G>A, XM_047443878.1:c.1857G>A, XM_047443877.1:c.1860G>A, XM_047443879.1:c.1857G>A, NP_733772.1:p.Trp620Ter, NP_056191.1:p.Trp619Ter, NP_001336904.1:p.Trp620Ter, NP_001336907.1:p.Trp619Ter, NP_001336906.1:p.Trp620Ter, NP_001336909.1:p.Trp619Ter, NP_001336908.1:p.Trp619Ter, NP_001132960.1:p.Trp620Ter, NP_001336910.1:p.Trp619Ter, NP_001336905.1:p.Trp620Ter, XP_011531048.1:p.Trp620Ter, XP_011531050.2:p.Trp620Ter, XP_016859250.1:p.Trp620Ter, XP_047299834.1:p.Trp619Ter, XP_047299833.1:p.Trp620Ter, XP_047299835.1:p.Trp619Ter
              11.

              rs1482435483 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                2:33549642 (GRCh38)
                2:33774709 (GRCh37)
                Canonical SPDI:
                NC_000002.12:33549641:T:A
                Gene:
                RASGRP3 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.000047/1 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000002.12:g.33549642T>A, NC_000002.11:g.33774709T>A, NG_053077.1:g.118295T>A, NM_170672.3:c.1433T>A, NM_170672.2:c.1433T>A, NM_015376.3:c.1430T>A, NM_015376.2:c.1430T>A, NM_001349975.2:c.1433T>A, NM_001349975.1:c.1433T>A, NM_001349978.2:c.1430T>A, NM_001349978.1:c.1430T>A, NM_001349977.2:c.1433T>A, NM_001349977.1:c.1433T>A, NM_001349980.2:c.1430T>A, NM_001349980.1:c.1430T>A, NM_001349979.2:c.1430T>A, NM_001349979.1:c.1430T>A, NM_001139488.2:c.1433T>A, NM_001139488.1:c.1433T>A, NM_001349981.2:c.1430T>A, NM_001349981.1:c.1430T>A, NM_001349976.2:c.1433T>A, NM_001349976.1:c.1433T>A, XM_011532746.4:c.1433T>A, XM_011532746.3:c.1433T>A, XM_011532746.2:c.1433T>A, XM_011532746.1:c.1433T>A, XM_011532748.4:c.1433T>A, XM_011532748.3:c.1433T>A, XM_011532748.2:c.1433T>A, XM_011532748.1:c.1142T>A, XM_017003761.3:c.1433T>A, XM_017003761.2:c.1433T>A, XM_017003761.1:c.1433T>A, XM_047443878.1:c.1430T>A, XM_047443877.1:c.1433T>A, XM_047443879.1:c.1430T>A, NP_733772.1:p.Phe478Tyr, NP_056191.1:p.Phe477Tyr, NP_001336904.1:p.Phe478Tyr, NP_001336907.1:p.Phe477Tyr, NP_001336906.1:p.Phe478Tyr, NP_001336909.1:p.Phe477Tyr, NP_001336908.1:p.Phe477Tyr, NP_001132960.1:p.Phe478Tyr, NP_001336910.1:p.Phe477Tyr, NP_001336905.1:p.Phe478Tyr, XP_011531048.1:p.Phe478Tyr, XP_011531050.2:p.Phe478Tyr, XP_016859250.1:p.Phe478Tyr, XP_047299834.1:p.Phe477Tyr, XP_047299833.1:p.Phe478Tyr, XP_047299835.1:p.Phe477Tyr
                12.

                rs1478524677 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  2:33516584 (GRCh38)
                  2:33741651 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:33516583:T:C
                  Gene:
                  RASGRP3 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000002.12:g.33516584T>C, NC_000002.11:g.33741651T>C, NG_053077.1:g.85237T>C, NM_170672.3:c.113T>C, NM_170672.2:c.113T>C, NM_015376.3:c.113T>C, NM_015376.2:c.113T>C, NM_001349975.2:c.113T>C, NM_001349975.1:c.113T>C, NM_001349978.2:c.113T>C, NM_001349978.1:c.113T>C, NM_001349977.2:c.113T>C, NM_001349977.1:c.113T>C, NM_001349980.2:c.113T>C, NM_001349980.1:c.113T>C, NM_001349979.2:c.113T>C, NM_001349979.1:c.113T>C, NM_001139488.2:c.113T>C, NM_001139488.1:c.113T>C, NM_001349981.2:c.113T>C, NM_001349981.1:c.113T>C, NM_001349976.2:c.113T>C, NM_001349976.1:c.113T>C, XM_011532746.4:c.113T>C, XM_011532746.3:c.113T>C, XM_011532746.2:c.113T>C, XM_011532746.1:c.113T>C, XM_011532748.4:c.113T>C, XM_011532748.3:c.113T>C, XM_011532748.2:c.113T>C, XM_017003761.3:c.113T>C, XM_017003761.2:c.113T>C, XM_017003761.1:c.113T>C, XM_047443878.1:c.113T>C, XM_047443877.1:c.113T>C, XM_047443879.1:c.113T>C, NP_733772.1:p.Val38Ala, NP_056191.1:p.Val38Ala, NP_001336904.1:p.Val38Ala, NP_001336907.1:p.Val38Ala, NP_001336906.1:p.Val38Ala, NP_001336909.1:p.Val38Ala, NP_001336908.1:p.Val38Ala, NP_001132960.1:p.Val38Ala, NP_001336910.1:p.Val38Ala, NP_001336905.1:p.Val38Ala, XP_011531048.1:p.Val38Ala, XP_011531050.2:p.Val38Ala, XP_016859250.1:p.Val38Ala, XP_047299834.1:p.Val38Ala, XP_047299833.1:p.Val38Ala, XP_047299835.1:p.Val38Ala
                  13.

                  rs1478377291 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    2:33527251 (GRCh38)
                    2:33752318 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:33527250:G:T
                    Gene:
                    RASGRP3 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000002.12:g.33527251G>T, NC_000002.11:g.33752318G>T, NG_053077.1:g.95904G>T, NM_170672.3:c.922G>T, NM_170672.2:c.922G>T, NM_015376.3:c.922G>T, NM_015376.2:c.922G>T, NM_001349975.2:c.922G>T, NM_001349975.1:c.922G>T, NM_001349978.2:c.922G>T, NM_001349978.1:c.922G>T, NM_001349977.2:c.922G>T, NM_001349977.1:c.922G>T, NM_001349980.2:c.922G>T, NM_001349980.1:c.922G>T, NM_001349979.2:c.922G>T, NM_001349979.1:c.922G>T, NM_001139488.2:c.922G>T, NM_001139488.1:c.922G>T, NM_001349981.2:c.922G>T, NM_001349981.1:c.922G>T, NM_001349976.2:c.922G>T, NM_001349976.1:c.922G>T, XM_011532746.4:c.922G>T, XM_011532746.3:c.922G>T, XM_011532746.2:c.922G>T, XM_011532746.1:c.922G>T, XM_011532748.4:c.922G>T, XM_011532748.3:c.922G>T, XM_011532748.2:c.922G>T, XM_011532748.1:c.631G>T, XM_017003761.3:c.922G>T, XM_017003761.2:c.922G>T, XM_017003761.1:c.922G>T, XM_047443878.1:c.922G>T, XM_047443877.1:c.922G>T, XM_047443879.1:c.922G>T, NP_733772.1:p.Asp308Tyr, NP_056191.1:p.Asp308Tyr, NP_001336904.1:p.Asp308Tyr, NP_001336907.1:p.Asp308Tyr, NP_001336906.1:p.Asp308Tyr, NP_001336909.1:p.Asp308Tyr, NP_001336908.1:p.Asp308Tyr, NP_001132960.1:p.Asp308Tyr, NP_001336910.1:p.Asp308Tyr, NP_001336905.1:p.Asp308Tyr, XP_011531048.1:p.Asp308Tyr, XP_011531050.2:p.Asp308Tyr, XP_016859250.1:p.Asp308Tyr, XP_047299834.1:p.Asp308Tyr, XP_047299833.1:p.Asp308Tyr, XP_047299835.1:p.Asp308Tyr
                    14.

                    rs1478230710 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      2:33558786 (GRCh38)
                      2:33783853 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:33558785:G:A
                      Gene:
                      RASGRP3 (Varview), RASGRP3-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,missense_variant,coding_sequence_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_000002.12:g.33558786G>A, NC_000002.11:g.33783853G>A, NG_053077.1:g.127439G>A, NM_170672.3:c.1820G>A, NM_170672.2:c.1820G>A, NM_015376.3:c.1817G>A, NM_015376.2:c.1817G>A, NM_001349975.2:c.1820G>A, NM_001349975.1:c.1820G>A, NM_001349978.2:c.1817G>A, NM_001349978.1:c.1817G>A, NM_001349977.2:c.1820G>A, NM_001349977.1:c.1820G>A, NM_001349980.2:c.1817G>A, NM_001349980.1:c.1817G>A, NM_001349979.2:c.1817G>A, NM_001349979.1:c.1817G>A, NM_001139488.2:c.1820G>A, NM_001139488.1:c.1820G>A, NM_001349981.2:c.1817G>A, NM_001349981.1:c.1817G>A, NM_001349976.2:c.1820G>A, NM_001349976.1:c.1820G>A, XM_011532746.4:c.1820G>A, XM_011532746.3:c.1820G>A, XM_011532746.2:c.1820G>A, XM_011532746.1:c.1820G>A, XM_011532748.4:c.1820G>A, XM_011532748.3:c.1820G>A, XM_011532748.2:c.1820G>A, XM_011532748.1:c.1529G>A, XM_017003761.3:c.1820G>A, XM_017003761.2:c.1820G>A, XM_017003761.1:c.1820G>A, XM_047443878.1:c.1817G>A, XM_047443877.1:c.1820G>A, XM_047443879.1:c.1817G>A, NP_733772.1:p.Arg607Lys, NP_056191.1:p.Arg606Lys, NP_001336904.1:p.Arg607Lys, NP_001336907.1:p.Arg606Lys, NP_001336906.1:p.Arg607Lys, NP_001336909.1:p.Arg606Lys, NP_001336908.1:p.Arg606Lys, NP_001132960.1:p.Arg607Lys, NP_001336910.1:p.Arg606Lys, NP_001336905.1:p.Arg607Lys, XP_011531048.1:p.Arg607Lys, XP_011531050.2:p.Arg607Lys, XP_016859250.1:p.Arg607Lys, XP_047299834.1:p.Arg606Lys, XP_047299833.1:p.Arg607Lys, XP_047299835.1:p.Arg606Lys
                      15.

                      rs1476254460 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        2:33527191 (GRCh38)
                        2:33752258 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:33527190:C:A,NC_000002.12:33527190:C:T
                        Gene:
                        RASGRP3 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000071/1 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000002.12:g.33527191C>A, NC_000002.12:g.33527191C>T, NC_000002.11:g.33752258C>A, NC_000002.11:g.33752258C>T, NG_053077.1:g.95844C>A, NG_053077.1:g.95844C>T, NM_170672.3:c.862C>A, NM_170672.3:c.862C>T, NM_170672.2:c.862C>A, NM_170672.2:c.862C>T, NM_015376.3:c.862C>A, NM_015376.3:c.862C>T, NM_015376.2:c.862C>A, NM_015376.2:c.862C>T, NM_001349975.2:c.862C>A, NM_001349975.2:c.862C>T, NM_001349975.1:c.862C>A, NM_001349975.1:c.862C>T, NM_001349978.2:c.862C>A, NM_001349978.2:c.862C>T, NM_001349978.1:c.862C>A, NM_001349978.1:c.862C>T, NM_001349977.2:c.862C>A, NM_001349977.2:c.862C>T, NM_001349977.1:c.862C>A, NM_001349977.1:c.862C>T, NM_001349980.2:c.862C>A, NM_001349980.2:c.862C>T, NM_001349980.1:c.862C>A, NM_001349980.1:c.862C>T, NM_001349979.2:c.862C>A, NM_001349979.2:c.862C>T, NM_001349979.1:c.862C>A, NM_001349979.1:c.862C>T, NM_001139488.2:c.862C>A, NM_001139488.2:c.862C>T, NM_001139488.1:c.862C>A, NM_001139488.1:c.862C>T, NM_001349981.2:c.862C>A, NM_001349981.2:c.862C>T, NM_001349981.1:c.862C>A, NM_001349981.1:c.862C>T, NM_001349976.2:c.862C>A, NM_001349976.2:c.862C>T, NM_001349976.1:c.862C>A, NM_001349976.1:c.862C>T, XM_011532746.4:c.862C>A, XM_011532746.4:c.862C>T, XM_011532746.3:c.862C>A, XM_011532746.3:c.862C>T, XM_011532746.2:c.862C>A, XM_011532746.2:c.862C>T, XM_011532746.1:c.862C>A, XM_011532746.1:c.862C>T, XM_011532748.4:c.862C>A, XM_011532748.4:c.862C>T, XM_011532748.3:c.862C>A, XM_011532748.3:c.862C>T, XM_011532748.2:c.862C>A, XM_011532748.2:c.862C>T, XM_011532748.1:c.571C>A, XM_011532748.1:c.571C>T, XM_017003761.3:c.862C>A, XM_017003761.3:c.862C>T, XM_017003761.2:c.862C>A, XM_017003761.2:c.862C>T, XM_017003761.1:c.862C>A, XM_017003761.1:c.862C>T, XM_047443878.1:c.862C>A, XM_047443878.1:c.862C>T, XM_047443877.1:c.862C>A, XM_047443877.1:c.862C>T, XM_047443879.1:c.862C>A, XM_047443879.1:c.862C>T, NP_733772.1:p.Arg288Ser, NP_733772.1:p.Arg288Cys, NP_056191.1:p.Arg288Ser, NP_056191.1:p.Arg288Cys, NP_001336904.1:p.Arg288Ser, NP_001336904.1:p.Arg288Cys, NP_001336907.1:p.Arg288Ser, NP_001336907.1:p.Arg288Cys, NP_001336906.1:p.Arg288Ser, NP_001336906.1:p.Arg288Cys, NP_001336909.1:p.Arg288Ser, NP_001336909.1:p.Arg288Cys, NP_001336908.1:p.Arg288Ser, NP_001336908.1:p.Arg288Cys, NP_001132960.1:p.Arg288Ser, NP_001132960.1:p.Arg288Cys, NP_001336910.1:p.Arg288Ser, NP_001336910.1:p.Arg288Cys, NP_001336905.1:p.Arg288Ser, NP_001336905.1:p.Arg288Cys, XP_011531048.1:p.Arg288Ser, XP_011531048.1:p.Arg288Cys, XP_011531050.2:p.Arg288Ser, XP_011531050.2:p.Arg288Cys, XP_016859250.1:p.Arg288Ser, XP_016859250.1:p.Arg288Cys, XP_047299834.1:p.Arg288Ser, XP_047299834.1:p.Arg288Cys, XP_047299833.1:p.Arg288Ser, XP_047299833.1:p.Arg288Cys, XP_047299835.1:p.Arg288Ser, XP_047299835.1:p.Arg288Cys
                        16.

                        rs1476223442 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          2:33522010 (GRCh38)
                          2:33747077 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:33522009:G:C
                          Gene:
                          RASGRP3 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000002.12:g.33522010G>C, NC_000002.11:g.33747077G>C, NG_053077.1:g.90663G>C, NM_170672.3:c.424G>C, NM_170672.2:c.424G>C, NM_015376.3:c.424G>C, NM_015376.2:c.424G>C, NM_001349975.2:c.424G>C, NM_001349975.1:c.424G>C, NM_001349978.2:c.424G>C, NM_001349978.1:c.424G>C, NM_001349977.2:c.424G>C, NM_001349977.1:c.424G>C, NM_001349980.2:c.424G>C, NM_001349980.1:c.424G>C, NM_001349979.2:c.424G>C, NM_001349979.1:c.424G>C, NM_001139488.2:c.424G>C, NM_001139488.1:c.424G>C, NM_001349981.2:c.424G>C, NM_001349981.1:c.424G>C, NM_001349976.2:c.424G>C, NM_001349976.1:c.424G>C, XM_011532746.4:c.424G>C, XM_011532746.3:c.424G>C, XM_011532746.2:c.424G>C, XM_011532746.1:c.424G>C, XM_011532748.4:c.424G>C, XM_011532748.3:c.424G>C, XM_011532748.2:c.424G>C, XM_011532748.1:c.133G>C, XM_017003761.3:c.424G>C, XM_017003761.2:c.424G>C, XM_017003761.1:c.424G>C, XM_047443878.1:c.424G>C, XM_047443877.1:c.424G>C, XM_047443879.1:c.424G>C, NP_733772.1:p.Gly142Arg, NP_056191.1:p.Gly142Arg, NP_001336904.1:p.Gly142Arg, NP_001336907.1:p.Gly142Arg, NP_001336906.1:p.Gly142Arg, NP_001336909.1:p.Gly142Arg, NP_001336908.1:p.Gly142Arg, NP_001132960.1:p.Gly142Arg, NP_001336910.1:p.Gly142Arg, NP_001336905.1:p.Gly142Arg, XP_011531048.1:p.Gly142Arg, XP_011531050.2:p.Gly142Arg, XP_016859250.1:p.Gly142Arg, XP_047299834.1:p.Gly142Arg, XP_047299833.1:p.Gly142Arg, XP_047299835.1:p.Gly142Arg
                          17.

                          rs1474901537 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            2:33558975 (GRCh38)
                            2:33784042 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:33558974:G:A
                            Gene:
                            RASGRP3 (Varview), RASGRP3-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000002.12:g.33558975G>A, NC_000002.11:g.33784042G>A, NG_053077.1:g.127628G>A, NM_170672.3:c.2009G>A, NM_170672.2:c.2009G>A, NM_015376.3:c.2006G>A, NM_015376.2:c.2006G>A, NM_001349975.2:c.2009G>A, NM_001349975.1:c.2009G>A, NM_001349978.2:c.2006G>A, NM_001349978.1:c.2006G>A, NM_001349977.2:c.2009G>A, NM_001349977.1:c.2009G>A, NM_001349980.2:c.2006G>A, NM_001349980.1:c.2006G>A, NM_001349979.2:c.2006G>A, NM_001349979.1:c.2006G>A, NM_001139488.2:c.2009G>A, NM_001139488.1:c.2009G>A, NM_001349981.2:c.2006G>A, NM_001349981.1:c.2006G>A, NM_001349976.2:c.2009G>A, NM_001349976.1:c.2009G>A, XM_011532746.4:c.2009G>A, XM_011532746.3:c.2009G>A, XM_011532746.2:c.2009G>A, XM_011532746.1:c.2009G>A, XM_011532748.4:c.2009G>A, XM_011532748.3:c.2009G>A, XM_011532748.2:c.2009G>A, XM_011532748.1:c.1718G>A, XM_017003761.3:c.2009G>A, XM_017003761.2:c.2009G>A, XM_017003761.1:c.2009G>A, XM_047443878.1:c.2006G>A, XM_047443877.1:c.2009G>A, XM_047443879.1:c.2006G>A, NP_733772.1:p.Gly670Asp, NP_056191.1:p.Gly669Asp, NP_001336904.1:p.Gly670Asp, NP_001336907.1:p.Gly669Asp, NP_001336906.1:p.Gly670Asp, NP_001336909.1:p.Gly669Asp, NP_001336908.1:p.Gly669Asp, NP_001132960.1:p.Gly670Asp, NP_001336910.1:p.Gly669Asp, NP_001336905.1:p.Gly670Asp, XP_011531048.1:p.Gly670Asp, XP_011531050.2:p.Gly670Asp, XP_016859250.1:p.Gly670Asp, XP_047299834.1:p.Gly669Asp, XP_047299833.1:p.Gly670Asp, XP_047299835.1:p.Gly669Asp
                            18.

                            rs1474774593 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              2:33555538 (GRCh38)
                              2:33780605 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:33555537:G:T
                              Gene:
                              RASGRP3 (Varview), RASGRP3-AS1 (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,missense_variant
                              HGVS:
                              NC_000002.12:g.33555538G>T, NC_000002.11:g.33780605G>T, NG_053077.1:g.124191G>T, NM_170672.3:c.1550G>T, NM_170672.2:c.1550G>T, NM_015376.3:c.1547G>T, NM_015376.2:c.1547G>T, NM_001349975.2:c.1550G>T, NM_001349975.1:c.1550G>T, NM_001349978.2:c.1547G>T, NM_001349978.1:c.1547G>T, NM_001349977.2:c.1550G>T, NM_001349977.1:c.1550G>T, NM_001349980.2:c.1547G>T, NM_001349980.1:c.1547G>T, NM_001349979.2:c.1547G>T, NM_001349979.1:c.1547G>T, NM_001139488.2:c.1550G>T, NM_001139488.1:c.1550G>T, NM_001349981.2:c.1547G>T, NM_001349981.1:c.1547G>T, NM_001349976.2:c.1550G>T, NM_001349976.1:c.1550G>T, XM_011532746.4:c.1550G>T, XM_011532746.3:c.1550G>T, XM_011532746.2:c.1550G>T, XM_011532746.1:c.1550G>T, XM_011532748.4:c.1550G>T, XM_011532748.3:c.1550G>T, XM_011532748.2:c.1550G>T, XM_011532748.1:c.1259G>T, XM_017003761.3:c.1550G>T, XM_017003761.2:c.1550G>T, XM_017003761.1:c.1550G>T, XM_047443878.1:c.1547G>T, XM_047443877.1:c.1550G>T, XM_047443879.1:c.1547G>T, NP_733772.1:p.Gly517Val, NP_056191.1:p.Gly516Val, NP_001336904.1:p.Gly517Val, NP_001336907.1:p.Gly516Val, NP_001336906.1:p.Gly517Val, NP_001336909.1:p.Gly516Val, NP_001336908.1:p.Gly516Val, NP_001132960.1:p.Gly517Val, NP_001336910.1:p.Gly516Val, NP_001336905.1:p.Gly517Val, XP_011531048.1:p.Gly517Val, XP_011531050.2:p.Gly517Val, XP_016859250.1:p.Gly517Val, XP_047299834.1:p.Gly516Val, XP_047299833.1:p.Gly517Val, XP_047299835.1:p.Gly516Val
                              19.

                              rs1474386298 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                2:33527389 (GRCh38)
                                2:33752456 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:33527388:A:G
                                Gene:
                                RASGRP3 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (GnomAD_exomes)
                                G=0.000008/2 (TOPMED)
                                G=0.000342/1 (KOREAN)
                                HGVS:
                                NC_000002.12:g.33527389A>G, NC_000002.11:g.33752456A>G, NG_053077.1:g.96042A>G, NM_170672.3:c.1060A>G, NM_170672.2:c.1060A>G, NM_015376.3:c.1060A>G, NM_015376.2:c.1060A>G, NM_001349975.2:c.1060A>G, NM_001349975.1:c.1060A>G, NM_001349978.2:c.1060A>G, NM_001349978.1:c.1060A>G, NM_001349977.2:c.1060A>G, NM_001349977.1:c.1060A>G, NM_001349980.2:c.1060A>G, NM_001349980.1:c.1060A>G, NM_001349979.2:c.1060A>G, NM_001349979.1:c.1060A>G, NM_001139488.2:c.1060A>G, NM_001139488.1:c.1060A>G, NM_001349981.2:c.1060A>G, NM_001349981.1:c.1060A>G, NM_001349976.2:c.1060A>G, NM_001349976.1:c.1060A>G, XM_011532746.4:c.1060A>G, XM_011532746.3:c.1060A>G, XM_011532746.2:c.1060A>G, XM_011532746.1:c.1060A>G, XM_011532748.4:c.1060A>G, XM_011532748.3:c.1060A>G, XM_011532748.2:c.1060A>G, XM_011532748.1:c.769A>G, XM_017003761.3:c.1060A>G, XM_017003761.2:c.1060A>G, XM_017003761.1:c.1060A>G, XM_047443878.1:c.1060A>G, XM_047443877.1:c.1060A>G, XM_047443879.1:c.1060A>G, NP_733772.1:p.Met354Val, NP_056191.1:p.Met354Val, NP_001336904.1:p.Met354Val, NP_001336907.1:p.Met354Val, NP_001336906.1:p.Met354Val, NP_001336909.1:p.Met354Val, NP_001336908.1:p.Met354Val, NP_001132960.1:p.Met354Val, NP_001336910.1:p.Met354Val, NP_001336905.1:p.Met354Val, XP_011531048.1:p.Met354Val, XP_011531050.2:p.Met354Val, XP_016859250.1:p.Met354Val, XP_047299834.1:p.Met354Val, XP_047299833.1:p.Met354Val, XP_047299835.1:p.Met354Val

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