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Items: 1 to 20 of 551

1.

rs1490195370 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    12:55951781 (GRCh38)
    12:56345565 (GRCh37)
    Canonical SPDI:
    NC_000012.12:55951780:G:A
    Gene:
    DGKA (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000019/5 (TOPMED)
    HGVS:
    NC_000012.12:g.55951781G>A, NC_000012.11:g.56345565G>A, NM_001345.5:c.1585G>A, NM_001345.4:c.1585G>A, XM_017018901.3:c.1939G>A, XM_017018901.2:c.1939G>A, XM_017018901.1:c.1939G>A, NM_201444.3:c.1585G>A, NM_201444.2:c.1585G>A, XM_011537993.3:c.1585G>A, XM_011537993.2:c.1585G>A, XM_011537993.1:c.1585G>A, XM_011537995.3:c.1249G>A, XM_011537995.2:c.1249G>A, XM_011537995.1:c.1249G>A, XM_017018907.2:c.1939G>A, XM_017018907.1:c.1939G>A, NR_147027.2:n.2092G>A, NR_147027.1:n.2127G>A, XM_017018902.2:c.1939G>A, XM_017018902.1:c.1939G>A, NM_001351034.2:c.1585G>A, NM_001351034.1:c.1585G>A, NR_147026.2:n.1849G>A, NR_147026.1:n.1884G>A, NM_201445.2:c.1585G>A, NM_201445.1:c.1585G>A, NM_001351033.2:c.1585G>A, NM_001351033.1:c.1585G>A, NM_001351040.2:c.523G>A, NM_001351040.1:c.523G>A, NM_001351036.2:c.1162G>A, NM_001351036.1:c.1162G>A, NM_201554.2:c.1585G>A, NM_201554.1:c.1585G>A, NM_001351038.2:c.523G>A, NM_001351038.1:c.523G>A, NM_001351039.2:c.523G>A, NM_001351039.1:c.523G>A, XM_047428434.1:c.1585G>A, XM_017018900.1:c.2053G>A, XM_017018908.1:c.1837G>A, XM_047428435.1:c.1585G>A, NM_001351037.1:c.1162G>A, NM_001351035.1:c.1699G>A, XM_047428437.1:c.1465G>A, XM_047428436.1:c.2053G>A, NP_001336.2:p.Val529Met, XP_016874390.1:p.Val647Met, NP_958852.1:p.Val529Met, XP_011536295.1:p.Val529Met, XP_011536297.1:p.Val417Met, XP_016874396.1:p.Val647Met, XP_016874391.1:p.Val647Met, NP_001337963.1:p.Val529Met, NP_958853.1:p.Val529Met, NP_001337962.1:p.Val529Met, NP_001337969.1:p.Val175Met, NP_001337965.1:p.Val388Met, NP_963848.1:p.Val529Met, NP_001337967.1:p.Val175Met, NP_001337968.1:p.Val175Met, XP_047284390.1:p.Val529Met, XP_016874389.1:p.Val685Met, XP_016874397.1:p.Val613Met, XP_047284391.1:p.Val529Met, NP_001337966.1:p.Val388Met, NP_001337964.1:p.Val567Met, XP_047284393.1:p.Val489Met, XP_047284392.1:p.Val685Met

    2.

    rs1489146238 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      12:55952356 (GRCh38)
      12:56346140 (GRCh37)
      Canonical SPDI:
      NC_000012.12:55952355:A:G
      Gene:
      DGKA (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,missense_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000008/2 (TOPMED)
      HGVS:
      NC_000012.12:g.55952356A>G, NC_000012.11:g.56346140A>G, NG_028086.1:g.19357T>C, NM_001345.5:c.1668A>G, NM_001345.4:c.1668A>G, XM_017018901.3:c.2022A>G, XM_017018901.2:c.2022A>G, XM_017018901.1:c.2022A>G, NM_201444.3:c.1668A>G, NM_201444.2:c.1668A>G, XM_011537993.3:c.1668A>G, XM_011537993.2:c.1668A>G, XM_011537993.1:c.1668A>G, XM_011537995.3:c.1332A>G, XM_011537995.2:c.1332A>G, XM_011537995.1:c.1332A>G, XM_017018907.2:c.2022A>G, XM_017018907.1:c.2022A>G, NR_147027.2:n.2175A>G, NR_147027.1:n.2210A>G, XM_017018902.2:c.2022A>G, XM_017018902.1:c.2022A>G, NM_001351034.2:c.1668A>G, NM_001351034.1:c.1668A>G, NR_147026.2:n.1932A>G, NR_147026.1:n.1967A>G, NM_201445.2:c.1668A>G, NM_201445.1:c.1668A>G, NM_001351033.2:c.1668A>G, NM_001351033.1:c.1668A>G, NM_001351040.2:c.606A>G, NM_001351040.1:c.606A>G, NM_001351036.2:c.1245A>G, NM_001351036.1:c.1245A>G, NM_201554.2:c.1668A>G, NM_201554.1:c.1668A>G, NM_001351038.2:c.606A>G, NM_001351038.1:c.606A>G, NM_001351039.2:c.606A>G, NM_001351039.1:c.606A>G, XM_047428434.1:c.1668A>G, XM_017018900.1:c.2136A>G, XM_017018908.1:c.1920A>G, XM_047428435.1:c.1668A>G, NM_001351037.1:c.1245A>G, NM_001351035.1:c.1782A>G, XM_047428437.1:c.1548A>G, XM_047428436.1:c.2071A>G, XP_047284392.1:p.Met691Val

      3.

      rs1487127872 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        12:55952079 (GRCh38)
        12:56345863 (GRCh37)
        Canonical SPDI:
        NC_000012.12:55952078:T:C
        Gene:
        DGKA (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000012.12:g.55952079T>C, NC_000012.11:g.56345863T>C, NM_001345.5:c.1632T>C, NM_001345.4:c.1632T>C, XM_017018901.3:c.1986T>C, XM_017018901.2:c.1986T>C, XM_017018901.1:c.1986T>C, NM_201444.3:c.1632T>C, NM_201444.2:c.1632T>C, XM_011537993.3:c.1632T>C, XM_011537993.2:c.1632T>C, XM_011537993.1:c.1632T>C, XM_011537995.3:c.1296T>C, XM_011537995.2:c.1296T>C, XM_011537995.1:c.1296T>C, XM_017018907.2:c.1986T>C, XM_017018907.1:c.1986T>C, NR_147027.2:n.2139T>C, NR_147027.1:n.2174T>C, XM_017018902.2:c.1986T>C, XM_017018902.1:c.1986T>C, NM_001351034.2:c.1632T>C, NM_001351034.1:c.1632T>C, NR_147026.2:n.1896T>C, NR_147026.1:n.1931T>C, NM_201445.2:c.1632T>C, NM_201445.1:c.1632T>C, NM_001351033.2:c.1632T>C, NM_001351033.1:c.1632T>C, NM_001351040.2:c.570T>C, NM_001351040.1:c.570T>C, NM_001351036.2:c.1209T>C, NM_001351036.1:c.1209T>C, NM_201554.2:c.1632T>C, NM_201554.1:c.1632T>C, NM_001351038.2:c.570T>C, NM_001351038.1:c.570T>C, NM_001351039.2:c.570T>C, NM_001351039.1:c.570T>C, XM_047428434.1:c.1632T>C, XM_017018900.1:c.2100T>C, XM_017018908.1:c.1884T>C, XM_047428435.1:c.1632T>C, NM_001351037.1:c.1209T>C, NM_001351035.1:c.1746T>C, XM_047428437.1:c.1512T>C

        4.

        rs1485770287 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          12:55938548 (GRCh38)
          12:56332332 (GRCh37)
          Canonical SPDI:
          NC_000012.12:55938547:C:T
          Gene:
          DGKA (Varview)
          Functional Consequence:
          intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000071/1 (ALFA)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000012.12:g.55938548C>T, NC_000012.11:g.56332332C>T, NM_001345.5:c.387C>T, NM_001345.4:c.387C>T, XM_017018901.3:c.387C>T, XM_017018901.2:c.387C>T, XM_017018901.1:c.387C>T, NM_201444.3:c.387C>T, NM_201444.2:c.387C>T, XM_011537993.3:c.387C>T, XM_011537993.2:c.387C>T, XM_011537993.1:c.387C>T, XM_017018907.2:c.387C>T, XM_017018907.1:c.387C>T, XM_017018902.2:c.387C>T, XM_017018902.1:c.387C>T, NM_001351034.2:c.387C>T, NM_001351034.1:c.387C>T, NR_147026.2:n.529C>T, NR_147026.1:n.564C>T, NM_201445.2:c.387C>T, NM_201445.1:c.387C>T, NM_001351033.2:c.387C>T, NM_001351033.1:c.387C>T, NM_001351040.2:c.-587C>T, NM_001351040.1:c.-587C>T, NM_001351036.2:c.-37C>T, NM_001351036.1:c.-37C>T, NM_201554.2:c.387C>T, NM_201554.1:c.387C>T, NM_001351038.2:c.-587C>T, NM_001351038.1:c.-587C>T, NM_001351039.2:c.-587C>T, NM_001351039.1:c.-587C>T, XM_047428434.1:c.387C>T, XM_017018900.1:c.501C>T, XM_017018908.1:c.501C>T, XM_047428435.1:c.387C>T, NM_001351037.1:c.-37C>T, NM_001351035.1:c.501C>T, XM_047428436.1:c.501C>T

          5.

          rs1484811732 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            12:55952767 (GRCh38)
            12:56346551 (GRCh37)
            Canonical SPDI:
            NC_000012.12:55952766:T:C
            Gene:
            DGKA (Varview)
            Functional Consequence:
            downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0.000094/2 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000012.12:g.55952767T>C, NC_000012.11:g.56346551T>C, NG_028086.1:g.18946A>G, NM_001345.5:c.1777T>C, NM_001345.4:c.1777T>C, XM_017018901.3:c.2131T>C, XM_017018901.2:c.2131T>C, XM_017018901.1:c.2131T>C, NM_201444.3:c.1777T>C, NM_201444.2:c.1777T>C, XM_011537993.3:c.1777T>C, XM_011537993.2:c.1777T>C, XM_011537993.1:c.1777T>C, XM_011537995.3:c.1441T>C, XM_011537995.2:c.1441T>C, XM_011537995.1:c.1441T>C, XM_017018907.2:c.2131T>C, XM_017018907.1:c.2131T>C, NR_147027.2:n.2284T>C, NR_147027.1:n.2319T>C, XM_017018902.2:c.2131T>C, XM_017018902.1:c.2131T>C, NM_001351034.2:c.1777T>C, NM_001351034.1:c.1777T>C, NR_147026.2:n.2041T>C, NR_147026.1:n.2076T>C, NM_201445.2:c.1777T>C, NM_201445.1:c.1777T>C, NM_001351033.2:c.1777T>C, NM_001351033.1:c.1777T>C, NM_001351040.2:c.715T>C, NM_001351040.1:c.715T>C, NM_001351036.2:c.1354T>C, NM_001351036.1:c.1354T>C, NM_201554.2:c.1777T>C, NM_201554.1:c.1777T>C, NM_001351038.2:c.715T>C, NM_001351038.1:c.715T>C, NM_001351039.2:c.715T>C, NM_001351039.1:c.715T>C, XM_047428434.1:c.1777T>C, XM_017018900.1:c.2245T>C, XM_017018908.1:c.2029T>C, XM_047428435.1:c.1777T>C, NM_001351037.1:c.1354T>C, NM_001351035.1:c.1891T>C, XM_047428437.1:c.1657T>C, NP_001336.2:p.Ser593Pro, XP_016874390.1:p.Ser711Pro, NP_958852.1:p.Ser593Pro, XP_011536295.1:p.Ser593Pro, XP_011536297.1:p.Ser481Pro, XP_016874396.1:p.Ser711Pro, XP_016874391.1:p.Ser711Pro, NP_001337963.1:p.Ser593Pro, NP_958853.1:p.Ser593Pro, NP_001337962.1:p.Ser593Pro, NP_001337969.1:p.Ser239Pro, NP_001337965.1:p.Ser452Pro, NP_963848.1:p.Ser593Pro, NP_001337967.1:p.Ser239Pro, NP_001337968.1:p.Ser239Pro, XP_047284390.1:p.Ser593Pro, XP_016874389.1:p.Ser749Pro, XP_016874397.1:p.Ser677Pro, XP_047284391.1:p.Ser593Pro, NP_001337966.1:p.Ser452Pro, NP_001337964.1:p.Ser631Pro, XP_047284393.1:p.Ser553Pro

            6.

            rs1484582377 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              12:55953730 (GRCh38)
              12:56347514 (GRCh37)
              Canonical SPDI:
              NC_000012.12:55953729:C:A,NC_000012.12:55953729:C:T
              Gene:
              DGKA (Varview), PMEL (Varview)
              Functional Consequence:
              500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              A=0.000007/1 (GnomAD)
              A=0.000019/5 (TOPMED)
              HGVS:
              NC_000012.12:g.55953730C>A, NC_000012.12:g.55953730C>T, NC_000012.11:g.56347514C>A, NC_000012.11:g.56347514C>T, NG_028086.1:g.17983G>T, NG_028086.1:g.17983G>A, NM_001345.5:c.2170C>A, NM_001345.5:c.2170C>T, NM_001345.4:c.2170C>A, NM_001345.4:c.2170C>T, XM_017018901.3:c.2524C>A, XM_017018901.3:c.2524C>T, XM_017018901.2:c.2524C>A, XM_017018901.2:c.2524C>T, XM_017018901.1:c.2524C>A, XM_017018901.1:c.2524C>T, NM_201444.3:c.2170C>A, NM_201444.3:c.2170C>T, NM_201444.2:c.2170C>A, NM_201444.2:c.2170C>T, XM_011537993.3:c.2170C>A, XM_011537993.3:c.2170C>T, XM_011537993.2:c.2170C>A, XM_011537993.2:c.2170C>T, XM_011537993.1:c.2170C>A, XM_011537993.1:c.2170C>T, XM_011537995.3:c.1834C>A, XM_011537995.3:c.1834C>T, XM_011537995.2:c.1834C>A, XM_011537995.2:c.1834C>T, XM_011537995.1:c.1834C>A, XM_011537995.1:c.1834C>T, XM_017018907.2:c.2524C>A, XM_017018907.2:c.2524C>T, XM_017018907.1:c.2524C>A, XM_017018907.1:c.2524C>T, NR_147027.2:n.2677C>A, NR_147027.2:n.2677C>T, NR_147027.1:n.2712C>A, NR_147027.1:n.2712C>T, XM_017018902.2:c.2524C>A, XM_017018902.2:c.2524C>T, XM_017018902.1:c.2524C>A, XM_017018902.1:c.2524C>T, NM_001351034.2:c.2170C>A, NM_001351034.2:c.2170C>T, NM_001351034.1:c.2170C>A, NM_001351034.1:c.2170C>T, NR_147026.2:n.2434C>A, NR_147026.2:n.2434C>T, NR_147026.1:n.2469C>A, NR_147026.1:n.2469C>T, NM_201445.2:c.2170C>A, NM_201445.2:c.2170C>T, NM_201445.1:c.2170C>A, NM_201445.1:c.2170C>T, NM_001351033.2:c.2170C>A, NM_001351033.2:c.2170C>T, NM_001351033.1:c.2170C>A, NM_001351033.1:c.2170C>T, NM_001351040.2:c.1108C>A, NM_001351040.2:c.1108C>T, NM_001351040.1:c.1108C>A, NM_001351040.1:c.1108C>T, NM_001351036.2:c.1747C>A, NM_001351036.2:c.1747C>T, NM_001351036.1:c.1747C>A, NM_001351036.1:c.1747C>T, NM_201554.2:c.2170C>A, NM_201554.2:c.2170C>T, NM_201554.1:c.2170C>A, NM_201554.1:c.2170C>T, NM_001351038.2:c.1108C>A, NM_001351038.2:c.1108C>T, NM_001351038.1:c.1108C>A, NM_001351038.1:c.1108C>T, NM_001351039.2:c.1108C>A, NM_001351039.2:c.1108C>T, NM_001351039.1:c.1108C>A, NM_001351039.1:c.1108C>T, XM_047428434.1:c.2170C>A, XM_047428434.1:c.2170C>T, XM_017018900.1:c.2638C>A, XM_017018900.1:c.2638C>T, XM_017018908.1:c.2422C>A, XM_017018908.1:c.2422C>T, XM_047428435.1:c.2170C>A, XM_047428435.1:c.2170C>T, NM_001351037.1:c.1747C>A, NM_001351037.1:c.1747C>T, NM_001351035.1:c.2284C>A, NM_001351035.1:c.2284C>T, XM_047428437.1:c.2050C>A, XM_047428437.1:c.2050C>T, NP_001336.2:p.Pro724Thr, NP_001336.2:p.Pro724Ser, XP_016874390.1:p.Pro842Thr, XP_016874390.1:p.Pro842Ser, NP_958852.1:p.Pro724Thr, NP_958852.1:p.Pro724Ser, XP_011536295.1:p.Pro724Thr, XP_011536295.1:p.Pro724Ser, XP_011536297.1:p.Pro612Thr, XP_011536297.1:p.Pro612Ser, XP_016874396.1:p.Pro842Thr, XP_016874396.1:p.Pro842Ser, XP_016874391.1:p.Pro842Thr, XP_016874391.1:p.Pro842Ser, NP_001337963.1:p.Pro724Thr, NP_001337963.1:p.Pro724Ser, NP_958853.1:p.Pro724Thr, NP_958853.1:p.Pro724Ser, NP_001337962.1:p.Pro724Thr, NP_001337962.1:p.Pro724Ser, NP_001337969.1:p.Pro370Thr, NP_001337969.1:p.Pro370Ser, NP_001337965.1:p.Pro583Thr, NP_001337965.1:p.Pro583Ser, NP_963848.1:p.Pro724Thr, NP_963848.1:p.Pro724Ser, NP_001337967.1:p.Pro370Thr, NP_001337967.1:p.Pro370Ser, NP_001337968.1:p.Pro370Thr, NP_001337968.1:p.Pro370Ser, XP_047284390.1:p.Pro724Thr, XP_047284390.1:p.Pro724Ser, XP_016874389.1:p.Pro880Thr, XP_016874389.1:p.Pro880Ser, XP_016874397.1:p.Pro808Thr, XP_016874397.1:p.Pro808Ser, XP_047284391.1:p.Pro724Thr, XP_047284391.1:p.Pro724Ser, NP_001337966.1:p.Pro583Thr, NP_001337966.1:p.Pro583Ser, NP_001337964.1:p.Pro762Thr, NP_001337964.1:p.Pro762Ser, XP_047284393.1:p.Pro684Thr, XP_047284393.1:p.Pro684Ser

              7.

              rs1484555541 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                12:55953065 (GRCh38)
                12:56346849 (GRCh37)
                Canonical SPDI:
                NC_000012.12:55953064:G:T
                Gene:
                DGKA (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000012.12:g.55953065G>T, NC_000012.11:g.56346849G>T, NG_028086.1:g.18648C>A, NM_001345.5:c.1968G>T, NM_001345.4:c.1968G>T, XM_017018901.3:c.2322G>T, XM_017018901.2:c.2322G>T, XM_017018901.1:c.2322G>T, NM_201444.3:c.1968G>T, NM_201444.2:c.1968G>T, XM_011537993.3:c.1968G>T, XM_011537993.2:c.1968G>T, XM_011537993.1:c.1968G>T, XM_011537995.3:c.1632G>T, XM_011537995.2:c.1632G>T, XM_011537995.1:c.1632G>T, XM_017018907.2:c.2322G>T, XM_017018907.1:c.2322G>T, NR_147027.2:n.2475G>T, NR_147027.1:n.2510G>T, XM_017018902.2:c.2322G>T, XM_017018902.1:c.2322G>T, NM_001351034.2:c.1968G>T, NM_001351034.1:c.1968G>T, NR_147026.2:n.2232G>T, NR_147026.1:n.2267G>T, NM_201445.2:c.1968G>T, NM_201445.1:c.1968G>T, NM_001351033.2:c.1968G>T, NM_001351033.1:c.1968G>T, NM_001351040.2:c.906G>T, NM_001351040.1:c.906G>T, NM_001351036.2:c.1545G>T, NM_001351036.1:c.1545G>T, NM_201554.2:c.1968G>T, NM_201554.1:c.1968G>T, NM_001351038.2:c.906G>T, NM_001351038.1:c.906G>T, NM_001351039.2:c.906G>T, NM_001351039.1:c.906G>T, XM_047428434.1:c.1968G>T, XM_017018900.1:c.2436G>T, XM_017018908.1:c.2220G>T, XM_047428435.1:c.1968G>T, NM_001351037.1:c.1545G>T, NM_001351035.1:c.2082G>T, XM_047428437.1:c.1848G>T

                8.

                rs1480774886 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  12:55940659 (GRCh38)
                  12:56334443 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:55940658:G:A
                  Gene:
                  DGKA (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000012.12:g.55940659G>A, NC_000012.11:g.56334443G>A, NM_001345.5:c.954G>A, NM_001345.4:c.954G>A, XM_017018901.3:c.1308G>A, XM_017018901.2:c.1308G>A, XM_017018901.1:c.1308G>A, NM_201444.3:c.954G>A, NM_201444.2:c.954G>A, XM_011537993.3:c.954G>A, XM_011537993.2:c.954G>A, XM_011537993.1:c.954G>A, XM_011537995.3:c.618G>A, XM_011537995.2:c.618G>A, XM_011537995.1:c.618G>A, XM_017018907.2:c.1308G>A, XM_017018907.1:c.1308G>A, NR_147027.2:n.1339G>A, NR_147027.1:n.1374G>A, XM_017018902.2:c.1308G>A, XM_017018902.1:c.1308G>A, NM_001351034.2:c.954G>A, NM_001351034.1:c.954G>A, NR_147026.2:n.1096G>A, NR_147026.1:n.1131G>A, NM_201445.2:c.954G>A, NM_201445.1:c.954G>A, NM_001351033.2:c.954G>A, NM_001351033.1:c.954G>A, NM_001351040.2:c.-109G>A, NM_001351040.1:c.-109G>A, NM_001351036.2:c.531G>A, NM_001351036.1:c.531G>A, NM_201554.2:c.954G>A, NM_201554.1:c.954G>A, NM_001351038.2:c.-109G>A, NM_001351038.1:c.-109G>A, NM_001351039.2:c.-109G>A, NM_001351039.1:c.-109G>A, XM_047428434.1:c.954G>A, XM_017018900.1:c.1422G>A, XM_017018908.1:c.1206G>A, XM_047428435.1:c.954G>A, NM_001351037.1:c.531G>A, NM_001351035.1:c.1068G>A, XM_047428437.1:c.834G>A, XM_047428436.1:c.1422G>A

                  9.

                  rs1480263428 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    12:55939479 (GRCh38)
                    12:56333263 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:55939478:A:G
                    Gene:
                    DGKA (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000012.12:g.55939479A>G, NC_000012.11:g.56333263A>G, NM_001345.5:c.659A>G, NM_001345.4:c.659A>G, XM_017018901.3:c.1013A>G, XM_017018901.2:c.1013A>G, XM_017018901.1:c.1013A>G, NM_201444.3:c.659A>G, NM_201444.2:c.659A>G, XM_011537993.3:c.659A>G, XM_011537993.2:c.659A>G, XM_011537993.1:c.659A>G, XM_011537995.3:c.323A>G, XM_011537995.2:c.323A>G, XM_011537995.1:c.323A>G, XM_017018907.2:c.1013A>G, XM_017018907.1:c.1013A>G, NR_147027.2:n.1044A>G, NR_147027.1:n.1079A>G, XM_017018902.2:c.1013A>G, XM_017018902.1:c.1013A>G, NM_001351034.2:c.659A>G, NM_001351034.1:c.659A>G, NR_147026.2:n.801A>G, NR_147026.1:n.836A>G, NM_201445.2:c.659A>G, NM_201445.1:c.659A>G, NM_001351033.2:c.659A>G, NM_001351033.1:c.659A>G, NM_001351040.2:c.-315A>G, NM_001351040.1:c.-315A>G, NM_001351036.2:c.236A>G, NM_001351036.1:c.236A>G, NM_201554.2:c.659A>G, NM_201554.1:c.659A>G, NM_001351038.2:c.-315A>G, NM_001351038.1:c.-315A>G, NM_001351039.2:c.-315A>G, NM_001351039.1:c.-315A>G, XM_047428434.1:c.659A>G, XM_017018900.1:c.1127A>G, XM_017018908.1:c.911A>G, XM_047428435.1:c.659A>G, NM_001351037.1:c.236A>G, NM_001351035.1:c.773A>G, XM_047428437.1:c.539A>G, XM_047428436.1:c.1127A>G, NP_001336.2:p.Asn220Ser, XP_016874390.1:p.Asn338Ser, NP_958852.1:p.Asn220Ser, XP_011536295.1:p.Asn220Ser, XP_011536297.1:p.Asn108Ser, XP_016874396.1:p.Asn338Ser, XP_016874391.1:p.Asn338Ser, NP_001337963.1:p.Asn220Ser, NP_958853.1:p.Asn220Ser, NP_001337962.1:p.Asn220Ser, NP_001337965.1:p.Asn79Ser, NP_963848.1:p.Asn220Ser, XP_047284390.1:p.Asn220Ser, XP_016874389.1:p.Asn376Ser, XP_016874397.1:p.Asn304Ser, XP_047284391.1:p.Asn220Ser, NP_001337966.1:p.Asn79Ser, NP_001337964.1:p.Asn258Ser, XP_047284393.1:p.Asn180Ser, XP_047284392.1:p.Asn376Ser

                    10.

                    rs1478397652 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      12:55952902 (GRCh38)
                      12:56346686 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:55952901:G:A
                      Gene:
                      DGKA (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.000008/2 (GnomAD_exomes)
                      A=0.000019/5 (TOPMED)
                      A=0.000029/4 (GnomAD)
                      HGVS:
                      NC_000012.12:g.55952902G>A, NC_000012.11:g.56346686G>A, NG_028086.1:g.18811C>T, NM_001345.5:c.1912G>A, NM_001345.4:c.1912G>A, XM_017018901.3:c.2266G>A, XM_017018901.2:c.2266G>A, XM_017018901.1:c.2266G>A, NM_201444.3:c.1912G>A, NM_201444.2:c.1912G>A, XM_011537993.3:c.1912G>A, XM_011537993.2:c.1912G>A, XM_011537993.1:c.1912G>A, XM_011537995.3:c.1576G>A, XM_011537995.2:c.1576G>A, XM_011537995.1:c.1576G>A, XM_017018907.2:c.2266G>A, XM_017018907.1:c.2266G>A, NR_147027.2:n.2419G>A, NR_147027.1:n.2454G>A, XM_017018902.2:c.2266G>A, XM_017018902.1:c.2266G>A, NM_001351034.2:c.1912G>A, NM_001351034.1:c.1912G>A, NR_147026.2:n.2176G>A, NR_147026.1:n.2211G>A, NM_201445.2:c.1912G>A, NM_201445.1:c.1912G>A, NM_001351033.2:c.1912G>A, NM_001351033.1:c.1912G>A, NM_001351040.2:c.850G>A, NM_001351040.1:c.850G>A, NM_001351036.2:c.1489G>A, NM_001351036.1:c.1489G>A, NM_201554.2:c.1912G>A, NM_201554.1:c.1912G>A, NM_001351038.2:c.850G>A, NM_001351038.1:c.850G>A, NM_001351039.2:c.850G>A, NM_001351039.1:c.850G>A, XM_047428434.1:c.1912G>A, XM_017018900.1:c.2380G>A, XM_017018908.1:c.2164G>A, XM_047428435.1:c.1912G>A, NM_001351037.1:c.1489G>A, NM_001351035.1:c.2026G>A, XM_047428437.1:c.1792G>A, NP_001336.2:p.Asp638Asn, XP_016874390.1:p.Asp756Asn, NP_958852.1:p.Asp638Asn, XP_011536295.1:p.Asp638Asn, XP_011536297.1:p.Asp526Asn, XP_016874396.1:p.Asp756Asn, XP_016874391.1:p.Asp756Asn, NP_001337963.1:p.Asp638Asn, NP_958853.1:p.Asp638Asn, NP_001337962.1:p.Asp638Asn, NP_001337969.1:p.Asp284Asn, NP_001337965.1:p.Asp497Asn, NP_963848.1:p.Asp638Asn, NP_001337967.1:p.Asp284Asn, NP_001337968.1:p.Asp284Asn, XP_047284390.1:p.Asp638Asn, XP_016874389.1:p.Asp794Asn, XP_016874397.1:p.Asp722Asn, XP_047284391.1:p.Asp638Asn, NP_001337966.1:p.Asp497Asn, NP_001337964.1:p.Asp676Asn, XP_047284393.1:p.Asp598Asn

                      11.

                      rs1476613754 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        12:55936561 (GRCh38)
                        12:56330345 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:55936560:A:G
                        Gene:
                        DGKA (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                        HGVS:
                        NC_000012.12:g.55936561A>G, NC_000012.11:g.56330345A>G, NM_001345.5:c.58A>G, NM_001345.4:c.58A>G, XM_017018901.3:c.58A>G, XM_017018901.2:c.58A>G, XM_017018901.1:c.58A>G, NM_201444.3:c.58A>G, NM_201444.2:c.58A>G, XM_011537993.3:c.58A>G, XM_011537993.2:c.58A>G, XM_011537993.1:c.58A>G, XM_017018907.2:c.58A>G, XM_017018907.1:c.58A>G, NR_147027.2:n.432A>G, NR_147027.1:n.467A>G, XM_017018902.2:c.58A>G, XM_017018902.1:c.58A>G, NM_001351034.2:c.58A>G, NM_001351034.1:c.58A>G, NR_147026.2:n.200A>G, NR_147026.1:n.235A>G, NM_201445.2:c.58A>G, NM_201445.1:c.58A>G, NM_001351033.2:c.58A>G, NM_001351033.1:c.58A>G, NM_001351040.2:c.-916A>G, NM_001351040.1:c.-916A>G, NM_001351036.2:c.-380A>G, NM_001351036.1:c.-380A>G, NM_201554.2:c.58A>G, NM_201554.1:c.58A>G, NM_001351038.2:c.-916A>G, NM_001351038.1:c.-916A>G, NM_001351039.2:c.-916A>G, NM_001351039.1:c.-916A>G, XM_047428434.1:c.58A>G, XM_017018900.1:c.172A>G, XM_017018908.1:c.172A>G, XM_047428435.1:c.58A>G, NM_001351037.1:c.-380A>G, NM_001351035.1:c.172A>G, XM_047428436.1:c.172A>G, NP_001336.2:p.Met20Val, XP_016874390.1:p.Met20Val, NP_958852.1:p.Met20Val, XP_011536295.1:p.Met20Val, XP_016874396.1:p.Met20Val, XP_016874391.1:p.Met20Val, NP_001337963.1:p.Met20Val, NP_958853.1:p.Met20Val, NP_001337962.1:p.Met20Val, NP_963848.1:p.Met20Val, XP_047284390.1:p.Met20Val, XP_016874389.1:p.Met58Val, XP_016874397.1:p.Met58Val, XP_047284391.1:p.Met20Val, NP_001337964.1:p.Met58Val, XP_047284392.1:p.Met58Val

                        12.

                        rs1476370235 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          12:55953146 (GRCh38)
                          12:56346930 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:55953145:T:C
                          Gene:
                          DGKA (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000012.12:g.55953146T>C, NC_000012.11:g.56346930T>C, NG_028086.1:g.18567A>G, NM_001345.5:c.2049T>C, NM_001345.4:c.2049T>C, XM_017018901.3:c.2403T>C, XM_017018901.2:c.2403T>C, XM_017018901.1:c.2403T>C, NM_201444.3:c.2049T>C, NM_201444.2:c.2049T>C, XM_011537993.3:c.2049T>C, XM_011537993.2:c.2049T>C, XM_011537993.1:c.2049T>C, XM_011537995.3:c.1713T>C, XM_011537995.2:c.1713T>C, XM_011537995.1:c.1713T>C, XM_017018907.2:c.2403T>C, XM_017018907.1:c.2403T>C, NR_147027.2:n.2556T>C, NR_147027.1:n.2591T>C, XM_017018902.2:c.2403T>C, XM_017018902.1:c.2403T>C, NM_001351034.2:c.2049T>C, NM_001351034.1:c.2049T>C, NR_147026.2:n.2313T>C, NR_147026.1:n.2348T>C, NM_201445.2:c.2049T>C, NM_201445.1:c.2049T>C, NM_001351033.2:c.2049T>C, NM_001351033.1:c.2049T>C, NM_001351040.2:c.987T>C, NM_001351040.1:c.987T>C, NM_001351036.2:c.1626T>C, NM_001351036.1:c.1626T>C, NM_201554.2:c.2049T>C, NM_201554.1:c.2049T>C, NM_001351038.2:c.987T>C, NM_001351038.1:c.987T>C, NM_001351039.2:c.987T>C, NM_001351039.1:c.987T>C, XM_047428434.1:c.2049T>C, XM_017018900.1:c.2517T>C, XM_017018908.1:c.2301T>C, XM_047428435.1:c.2049T>C, NM_001351037.1:c.1626T>C, NM_001351035.1:c.2163T>C, XM_047428437.1:c.1929T>C

                          13.

                          rs1474571113 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            12:55953361 (GRCh38)
                            12:56347145 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:55953360:C:A,NC_000012.12:55953360:C:T
                            Gene:
                            DGKA (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000012.12:g.55953361C>A, NC_000012.12:g.55953361C>T, NC_000012.11:g.56347145C>A, NC_000012.11:g.56347145C>T, NG_028086.1:g.18352G>T, NG_028086.1:g.18352G>A, NM_001345.5:c.2075C>A, NM_001345.5:c.2075C>T, NM_001345.4:c.2075C>A, NM_001345.4:c.2075C>T, XM_017018901.3:c.2429C>A, XM_017018901.3:c.2429C>T, XM_017018901.2:c.2429C>A, XM_017018901.2:c.2429C>T, XM_017018901.1:c.2429C>A, XM_017018901.1:c.2429C>T, NM_201444.3:c.2075C>A, NM_201444.3:c.2075C>T, NM_201444.2:c.2075C>A, NM_201444.2:c.2075C>T, XM_011537993.3:c.2075C>A, XM_011537993.3:c.2075C>T, XM_011537993.2:c.2075C>A, XM_011537993.2:c.2075C>T, XM_011537993.1:c.2075C>A, XM_011537993.1:c.2075C>T, XM_011537995.3:c.1739C>A, XM_011537995.3:c.1739C>T, XM_011537995.2:c.1739C>A, XM_011537995.2:c.1739C>T, XM_011537995.1:c.1739C>A, XM_011537995.1:c.1739C>T, XM_017018907.2:c.2429C>A, XM_017018907.2:c.2429C>T, XM_017018907.1:c.2429C>A, XM_017018907.1:c.2429C>T, NR_147027.2:n.2582C>A, NR_147027.2:n.2582C>T, NR_147027.1:n.2617C>A, NR_147027.1:n.2617C>T, XM_017018902.2:c.2429C>A, XM_017018902.2:c.2429C>T, XM_017018902.1:c.2429C>A, XM_017018902.1:c.2429C>T, NM_001351034.2:c.2075C>A, NM_001351034.2:c.2075C>T, NM_001351034.1:c.2075C>A, NM_001351034.1:c.2075C>T, NR_147026.2:n.2339C>A, NR_147026.2:n.2339C>T, NR_147026.1:n.2374C>A, NR_147026.1:n.2374C>T, NM_201445.2:c.2075C>A, NM_201445.2:c.2075C>T, NM_201445.1:c.2075C>A, NM_201445.1:c.2075C>T, NM_001351033.2:c.2075C>A, NM_001351033.2:c.2075C>T, NM_001351033.1:c.2075C>A, NM_001351033.1:c.2075C>T, NM_001351040.2:c.1013C>A, NM_001351040.2:c.1013C>T, NM_001351040.1:c.1013C>A, NM_001351040.1:c.1013C>T, NM_001351036.2:c.1652C>A, NM_001351036.2:c.1652C>T, NM_001351036.1:c.1652C>A, NM_001351036.1:c.1652C>T, NM_201554.2:c.2075C>A, NM_201554.2:c.2075C>T, NM_201554.1:c.2075C>A, NM_201554.1:c.2075C>T, NM_001351038.2:c.1013C>A, NM_001351038.2:c.1013C>T, NM_001351038.1:c.1013C>A, NM_001351038.1:c.1013C>T, NM_001351039.2:c.1013C>A, NM_001351039.2:c.1013C>T, NM_001351039.1:c.1013C>A, NM_001351039.1:c.1013C>T, XM_047428434.1:c.2075C>A, XM_047428434.1:c.2075C>T, XM_017018900.1:c.2543C>A, XM_017018900.1:c.2543C>T, XM_017018908.1:c.2327C>A, XM_017018908.1:c.2327C>T, XM_047428435.1:c.2075C>A, XM_047428435.1:c.2075C>T, NM_001351037.1:c.1652C>A, NM_001351037.1:c.1652C>T, NM_001351035.1:c.2189C>A, NM_001351035.1:c.2189C>T, XM_047428437.1:c.1955C>A, XM_047428437.1:c.1955C>T, NP_001336.2:p.Thr692Asn, NP_001336.2:p.Thr692Ile, XP_016874390.1:p.Thr810Asn, XP_016874390.1:p.Thr810Ile, NP_958852.1:p.Thr692Asn, NP_958852.1:p.Thr692Ile, XP_011536295.1:p.Thr692Asn, XP_011536295.1:p.Thr692Ile, XP_011536297.1:p.Thr580Asn, XP_011536297.1:p.Thr580Ile, XP_016874396.1:p.Thr810Asn, XP_016874396.1:p.Thr810Ile, XP_016874391.1:p.Thr810Asn, XP_016874391.1:p.Thr810Ile, NP_001337963.1:p.Thr692Asn, NP_001337963.1:p.Thr692Ile, NP_958853.1:p.Thr692Asn, NP_958853.1:p.Thr692Ile, NP_001337962.1:p.Thr692Asn, NP_001337962.1:p.Thr692Ile, NP_001337969.1:p.Thr338Asn, NP_001337969.1:p.Thr338Ile, NP_001337965.1:p.Thr551Asn, NP_001337965.1:p.Thr551Ile, NP_963848.1:p.Thr692Asn, NP_963848.1:p.Thr692Ile, NP_001337967.1:p.Thr338Asn, NP_001337967.1:p.Thr338Ile, NP_001337968.1:p.Thr338Asn, NP_001337968.1:p.Thr338Ile, XP_047284390.1:p.Thr692Asn, XP_047284390.1:p.Thr692Ile, XP_016874389.1:p.Thr848Asn, XP_016874389.1:p.Thr848Ile, XP_016874397.1:p.Thr776Asn, XP_016874397.1:p.Thr776Ile, XP_047284391.1:p.Thr692Asn, XP_047284391.1:p.Thr692Ile, NP_001337966.1:p.Thr551Asn, NP_001337966.1:p.Thr551Ile, NP_001337964.1:p.Thr730Asn, NP_001337964.1:p.Thr730Ile, XP_047284393.1:p.Thr652Asn, XP_047284393.1:p.Thr652Ile

                            14.

                            rs1472954760 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C,G [Show Flanks]
                              Chromosome:
                              12:55953153 (GRCh38)
                              12:56346937 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:55953152:A:C,NC_000012.12:55953152:A:G
                              Gene:
                              DGKA (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              C=0.004913/9 (Korea1K)
                              HGVS:
                              NC_000012.12:g.55953153A>C, NC_000012.12:g.55953153A>G, NC_000012.11:g.56346937A>C, NC_000012.11:g.56346937A>G, NG_028086.1:g.18560T>G, NG_028086.1:g.18560T>C, NM_001345.5:c.2056A>C, NM_001345.5:c.2056A>G, NM_001345.4:c.2056A>C, NM_001345.4:c.2056A>G, XM_017018901.3:c.2410A>C, XM_017018901.3:c.2410A>G, XM_017018901.2:c.2410A>C, XM_017018901.2:c.2410A>G, XM_017018901.1:c.2410A>C, XM_017018901.1:c.2410A>G, NM_201444.3:c.2056A>C, NM_201444.3:c.2056A>G, NM_201444.2:c.2056A>C, NM_201444.2:c.2056A>G, XM_011537993.3:c.2056A>C, XM_011537993.3:c.2056A>G, XM_011537993.2:c.2056A>C, XM_011537993.2:c.2056A>G, XM_011537993.1:c.2056A>C, XM_011537993.1:c.2056A>G, XM_011537995.3:c.1720A>C, XM_011537995.3:c.1720A>G, XM_011537995.2:c.1720A>C, XM_011537995.2:c.1720A>G, XM_011537995.1:c.1720A>C, XM_011537995.1:c.1720A>G, XM_017018907.2:c.2410A>C, XM_017018907.2:c.2410A>G, XM_017018907.1:c.2410A>C, XM_017018907.1:c.2410A>G, NR_147027.2:n.2563A>C, NR_147027.2:n.2563A>G, NR_147027.1:n.2598A>C, NR_147027.1:n.2598A>G, XM_017018902.2:c.2410A>C, XM_017018902.2:c.2410A>G, XM_017018902.1:c.2410A>C, XM_017018902.1:c.2410A>G, NM_001351034.2:c.2056A>C, NM_001351034.2:c.2056A>G, NM_001351034.1:c.2056A>C, NM_001351034.1:c.2056A>G, NR_147026.2:n.2320A>C, NR_147026.2:n.2320A>G, NR_147026.1:n.2355A>C, NR_147026.1:n.2355A>G, NM_201445.2:c.2056A>C, NM_201445.2:c.2056A>G, NM_201445.1:c.2056A>C, NM_201445.1:c.2056A>G, NM_001351033.2:c.2056A>C, NM_001351033.2:c.2056A>G, NM_001351033.1:c.2056A>C, NM_001351033.1:c.2056A>G, NM_001351040.2:c.994A>C, NM_001351040.2:c.994A>G, NM_001351040.1:c.994A>C, NM_001351040.1:c.994A>G, NM_001351036.2:c.1633A>C, NM_001351036.2:c.1633A>G, NM_001351036.1:c.1633A>C, NM_001351036.1:c.1633A>G, NM_201554.2:c.2056A>C, NM_201554.2:c.2056A>G, NM_201554.1:c.2056A>C, NM_201554.1:c.2056A>G, NM_001351038.2:c.994A>C, NM_001351038.2:c.994A>G, NM_001351038.1:c.994A>C, NM_001351038.1:c.994A>G, NM_001351039.2:c.994A>C, NM_001351039.2:c.994A>G, NM_001351039.1:c.994A>C, NM_001351039.1:c.994A>G, XM_047428434.1:c.2056A>C, XM_047428434.1:c.2056A>G, XM_017018900.1:c.2524A>C, XM_017018900.1:c.2524A>G, XM_017018908.1:c.2308A>C, XM_017018908.1:c.2308A>G, XM_047428435.1:c.2056A>C, XM_047428435.1:c.2056A>G, NM_001351037.1:c.1633A>C, NM_001351037.1:c.1633A>G, NM_001351035.1:c.2170A>C, NM_001351035.1:c.2170A>G, XM_047428437.1:c.1936A>C, XM_047428437.1:c.1936A>G, NP_001336.2:p.Thr686Pro, NP_001336.2:p.Thr686Ala, XP_016874390.1:p.Thr804Pro, XP_016874390.1:p.Thr804Ala, NP_958852.1:p.Thr686Pro, NP_958852.1:p.Thr686Ala, XP_011536295.1:p.Thr686Pro, XP_011536295.1:p.Thr686Ala, XP_011536297.1:p.Thr574Pro, XP_011536297.1:p.Thr574Ala, XP_016874396.1:p.Thr804Pro, XP_016874396.1:p.Thr804Ala, XP_016874391.1:p.Thr804Pro, XP_016874391.1:p.Thr804Ala, NP_001337963.1:p.Thr686Pro, NP_001337963.1:p.Thr686Ala, NP_958853.1:p.Thr686Pro, NP_958853.1:p.Thr686Ala, NP_001337962.1:p.Thr686Pro, NP_001337962.1:p.Thr686Ala, NP_001337969.1:p.Thr332Pro, NP_001337969.1:p.Thr332Ala, NP_001337965.1:p.Thr545Pro, NP_001337965.1:p.Thr545Ala, NP_963848.1:p.Thr686Pro, NP_963848.1:p.Thr686Ala, NP_001337967.1:p.Thr332Pro, NP_001337967.1:p.Thr332Ala, NP_001337968.1:p.Thr332Pro, NP_001337968.1:p.Thr332Ala, XP_047284390.1:p.Thr686Pro, XP_047284390.1:p.Thr686Ala, XP_016874389.1:p.Thr842Pro, XP_016874389.1:p.Thr842Ala, XP_016874397.1:p.Thr770Pro, XP_016874397.1:p.Thr770Ala, XP_047284391.1:p.Thr686Pro, XP_047284391.1:p.Thr686Ala, NP_001337966.1:p.Thr545Pro, NP_001337966.1:p.Thr545Ala, NP_001337964.1:p.Thr724Pro, NP_001337964.1:p.Thr724Ala, XP_047284393.1:p.Thr646Pro, XP_047284393.1:p.Thr646Ala

                              15.

                              rs1471915169 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A,C [Show Flanks]
                                Chromosome:
                                12:55940911 (GRCh38)
                                12:56334695 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:55940910:T:A,NC_000012.12:55940910:T:C
                                Gene:
                                DGKA (Varview)
                                Functional Consequence:
                                missense_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000008/2 (TOPMED)
                                C=0.000342/1 (KOREAN)
                                HGVS:
                                NC_000012.12:g.55940911T>A, NC_000012.12:g.55940911T>C, NC_000012.11:g.56334695T>A, NC_000012.11:g.56334695T>C, NM_001345.5:c.1032T>A, NM_001345.5:c.1032T>C, NM_001345.4:c.1032T>A, NM_001345.4:c.1032T>C, XM_017018901.3:c.1386T>A, XM_017018901.3:c.1386T>C, XM_017018901.2:c.1386T>A, XM_017018901.2:c.1386T>C, XM_017018901.1:c.1386T>A, XM_017018901.1:c.1386T>C, NM_201444.3:c.1032T>A, NM_201444.3:c.1032T>C, NM_201444.2:c.1032T>A, NM_201444.2:c.1032T>C, XM_011537993.3:c.1032T>A, XM_011537993.3:c.1032T>C, XM_011537993.2:c.1032T>A, XM_011537993.2:c.1032T>C, XM_011537993.1:c.1032T>A, XM_011537993.1:c.1032T>C, XM_011537995.3:c.696T>A, XM_011537995.3:c.696T>C, XM_011537995.2:c.696T>A, XM_011537995.2:c.696T>C, XM_011537995.1:c.696T>A, XM_011537995.1:c.696T>C, XM_017018907.2:c.1386T>A, XM_017018907.2:c.1386T>C, XM_017018907.1:c.1386T>A, XM_017018907.1:c.1386T>C, NR_147027.2:n.1417T>A, NR_147027.2:n.1417T>C, NR_147027.1:n.1452T>A, NR_147027.1:n.1452T>C, XM_017018902.2:c.1386T>A, XM_017018902.2:c.1386T>C, XM_017018902.1:c.1386T>A, XM_017018902.1:c.1386T>C, NM_001351034.2:c.1032T>A, NM_001351034.2:c.1032T>C, NM_001351034.1:c.1032T>A, NM_001351034.1:c.1032T>C, NR_147026.2:n.1174T>A, NR_147026.2:n.1174T>C, NR_147026.1:n.1209T>A, NR_147026.1:n.1209T>C, NM_201445.2:c.1032T>A, NM_201445.2:c.1032T>C, NM_201445.1:c.1032T>A, NM_201445.1:c.1032T>C, NM_001351033.2:c.1032T>A, NM_001351033.2:c.1032T>C, NM_001351033.1:c.1032T>A, NM_001351033.1:c.1032T>C, NM_001351040.2:c.-31T>A, NM_001351040.2:c.-31T>C, NM_001351040.1:c.-31T>A, NM_001351040.1:c.-31T>C, NM_001351036.2:c.609T>A, NM_001351036.2:c.609T>C, NM_001351036.1:c.609T>A, NM_001351036.1:c.609T>C, NM_201554.2:c.1032T>A, NM_201554.2:c.1032T>C, NM_201554.1:c.1032T>A, NM_201554.1:c.1032T>C, NM_001351038.2:c.-31T>A, NM_001351038.2:c.-31T>C, NM_001351038.1:c.-31T>A, NM_001351038.1:c.-31T>C, NM_001351039.2:c.-31T>A, NM_001351039.2:c.-31T>C, NM_001351039.1:c.-31T>A, NM_001351039.1:c.-31T>C, XM_047428434.1:c.1032T>A, XM_047428434.1:c.1032T>C, XM_017018900.1:c.1500T>A, XM_017018900.1:c.1500T>C, XM_017018908.1:c.1284T>A, XM_017018908.1:c.1284T>C, XM_047428435.1:c.1032T>A, XM_047428435.1:c.1032T>C, NM_001351037.1:c.609T>A, NM_001351037.1:c.609T>C, NM_001351035.1:c.1146T>A, NM_001351035.1:c.1146T>C, XM_047428437.1:c.912T>A, XM_047428437.1:c.912T>C, XM_047428436.1:c.1500T>A, XM_047428436.1:c.1500T>C, NP_001336.2:p.Asp344Glu, XP_016874390.1:p.Asp462Glu, NP_958852.1:p.Asp344Glu, XP_011536295.1:p.Asp344Glu, XP_011536297.1:p.Asp232Glu, XP_016874396.1:p.Asp462Glu, XP_016874391.1:p.Asp462Glu, NP_001337963.1:p.Asp344Glu, NP_958853.1:p.Asp344Glu, NP_001337962.1:p.Asp344Glu, NP_001337965.1:p.Asp203Glu, NP_963848.1:p.Asp344Glu, XP_047284390.1:p.Asp344Glu, XP_016874389.1:p.Asp500Glu, XP_016874397.1:p.Asp428Glu, XP_047284391.1:p.Asp344Glu, NP_001337966.1:p.Asp203Glu, NP_001337964.1:p.Asp382Glu, XP_047284393.1:p.Asp304Glu, XP_047284392.1:p.Asp500Glu

                                16.

                                rs1471396569 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  12:55940721 (GRCh38)
                                  12:56334505 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:55940720:T:C
                                  Gene:
                                  DGKA (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000012.12:g.55940721T>C, NC_000012.11:g.56334505T>C, NM_001345.5:c.1016T>C, NM_001345.4:c.1016T>C, XM_017018901.3:c.1370T>C, XM_017018901.2:c.1370T>C, XM_017018901.1:c.1370T>C, NM_201444.3:c.1016T>C, NM_201444.2:c.1016T>C, XM_011537993.3:c.1016T>C, XM_011537993.2:c.1016T>C, XM_011537993.1:c.1016T>C, XM_011537995.3:c.680T>C, XM_011537995.2:c.680T>C, XM_011537995.1:c.680T>C, XM_017018907.2:c.1370T>C, XM_017018907.1:c.1370T>C, NR_147027.2:n.1401T>C, NR_147027.1:n.1436T>C, XM_017018902.2:c.1370T>C, XM_017018902.1:c.1370T>C, NM_001351034.2:c.1016T>C, NM_001351034.1:c.1016T>C, NR_147026.2:n.1158T>C, NR_147026.1:n.1193T>C, NM_201445.2:c.1016T>C, NM_201445.1:c.1016T>C, NM_001351033.2:c.1016T>C, NM_001351033.1:c.1016T>C, NM_001351040.2:c.-47T>C, NM_001351040.1:c.-47T>C, NM_001351036.2:c.593T>C, NM_001351036.1:c.593T>C, NM_201554.2:c.1016T>C, NM_201554.1:c.1016T>C, NM_001351038.2:c.-47T>C, NM_001351038.1:c.-47T>C, NM_001351039.2:c.-47T>C, NM_001351039.1:c.-47T>C, XM_047428434.1:c.1016T>C, XM_017018900.1:c.1484T>C, XM_017018908.1:c.1268T>C, XM_047428435.1:c.1016T>C, NM_001351037.1:c.593T>C, NM_001351035.1:c.1130T>C, XM_047428437.1:c.896T>C, XM_047428436.1:c.1484T>C, NP_001336.2:p.Leu339Pro, XP_016874390.1:p.Leu457Pro, NP_958852.1:p.Leu339Pro, XP_011536295.1:p.Leu339Pro, XP_011536297.1:p.Leu227Pro, XP_016874396.1:p.Leu457Pro, XP_016874391.1:p.Leu457Pro, NP_001337963.1:p.Leu339Pro, NP_958853.1:p.Leu339Pro, NP_001337962.1:p.Leu339Pro, NP_001337965.1:p.Leu198Pro, NP_963848.1:p.Leu339Pro, XP_047284390.1:p.Leu339Pro, XP_016874389.1:p.Leu495Pro, XP_016874397.1:p.Leu423Pro, XP_047284391.1:p.Leu339Pro, NP_001337966.1:p.Leu198Pro, NP_001337964.1:p.Leu377Pro, XP_047284393.1:p.Leu299Pro, XP_047284392.1:p.Leu495Pro

                                  17.

                                  rs1471042626 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    12:55953044 (GRCh38)
                                    12:56346828 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:55953043:A:G
                                    Gene:
                                    DGKA (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_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)
                                    G=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000012.12:g.55953044A>G, NC_000012.11:g.56346828A>G, NG_028086.1:g.18669T>C, NM_001345.5:c.1947A>G, NM_001345.4:c.1947A>G, XM_017018901.3:c.2301A>G, XM_017018901.2:c.2301A>G, XM_017018901.1:c.2301A>G, NM_201444.3:c.1947A>G, NM_201444.2:c.1947A>G, XM_011537993.3:c.1947A>G, XM_011537993.2:c.1947A>G, XM_011537993.1:c.1947A>G, XM_011537995.3:c.1611A>G, XM_011537995.2:c.1611A>G, XM_011537995.1:c.1611A>G, XM_017018907.2:c.2301A>G, XM_017018907.1:c.2301A>G, NR_147027.2:n.2454A>G, NR_147027.1:n.2489A>G, XM_017018902.2:c.2301A>G, XM_017018902.1:c.2301A>G, NM_001351034.2:c.1947A>G, NM_001351034.1:c.1947A>G, NR_147026.2:n.2211A>G, NR_147026.1:n.2246A>G, NM_201445.2:c.1947A>G, NM_201445.1:c.1947A>G, NM_001351033.2:c.1947A>G, NM_001351033.1:c.1947A>G, NM_001351040.2:c.885A>G, NM_001351040.1:c.885A>G, NM_001351036.2:c.1524A>G, NM_001351036.1:c.1524A>G, NM_201554.2:c.1947A>G, NM_201554.1:c.1947A>G, NM_001351038.2:c.885A>G, NM_001351038.1:c.885A>G, NM_001351039.2:c.885A>G, NM_001351039.1:c.885A>G, XM_047428434.1:c.1947A>G, XM_017018900.1:c.2415A>G, XM_017018908.1:c.2199A>G, XM_047428435.1:c.1947A>G, NM_001351037.1:c.1524A>G, NM_001351035.1:c.2061A>G, XM_047428437.1:c.1827A>G

                                    18.

                                    rs1470538989 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      12:55940900 (GRCh38)
                                      12:56334684 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:55940899:T:A
                                      Gene:
                                      DGKA (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0.000028/1 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000012.12:g.55940900T>A, NC_000012.11:g.56334684T>A, NM_001345.5:c.1021T>A, NM_001345.4:c.1021T>A, XM_017018901.3:c.1375T>A, XM_017018901.2:c.1375T>A, XM_017018901.1:c.1375T>A, NM_201444.3:c.1021T>A, NM_201444.2:c.1021T>A, XM_011537993.3:c.1021T>A, XM_011537993.2:c.1021T>A, XM_011537993.1:c.1021T>A, XM_011537995.3:c.685T>A, XM_011537995.2:c.685T>A, XM_011537995.1:c.685T>A, XM_017018907.2:c.1375T>A, XM_017018907.1:c.1375T>A, NR_147027.2:n.1406T>A, NR_147027.1:n.1441T>A, XM_017018902.2:c.1375T>A, XM_017018902.1:c.1375T>A, NM_001351034.2:c.1021T>A, NM_001351034.1:c.1021T>A, NR_147026.2:n.1163T>A, NR_147026.1:n.1198T>A, NM_201445.2:c.1021T>A, NM_201445.1:c.1021T>A, NM_001351033.2:c.1021T>A, NM_001351033.1:c.1021T>A, NM_001351040.2:c.-42T>A, NM_001351040.1:c.-42T>A, NM_001351036.2:c.598T>A, NM_001351036.1:c.598T>A, NM_201554.2:c.1021T>A, NM_201554.1:c.1021T>A, NM_001351038.2:c.-42T>A, NM_001351038.1:c.-42T>A, NM_001351039.2:c.-42T>A, NM_001351039.1:c.-42T>A, XM_047428434.1:c.1021T>A, XM_017018900.1:c.1489T>A, XM_017018908.1:c.1273T>A, XM_047428435.1:c.1021T>A, NM_001351037.1:c.598T>A, NM_001351035.1:c.1135T>A, XM_047428437.1:c.901T>A, XM_047428436.1:c.1489T>A, NP_001336.2:p.Ser341Thr, XP_016874390.1:p.Ser459Thr, NP_958852.1:p.Ser341Thr, XP_011536295.1:p.Ser341Thr, XP_011536297.1:p.Ser229Thr, XP_016874396.1:p.Ser459Thr, XP_016874391.1:p.Ser459Thr, NP_001337963.1:p.Ser341Thr, NP_958853.1:p.Ser341Thr, NP_001337962.1:p.Ser341Thr, NP_001337965.1:p.Ser200Thr, NP_963848.1:p.Ser341Thr, XP_047284390.1:p.Ser341Thr, XP_016874389.1:p.Ser497Thr, XP_016874397.1:p.Ser425Thr, XP_047284391.1:p.Ser341Thr, NP_001337966.1:p.Ser200Thr, NP_001337964.1:p.Ser379Thr, XP_047284393.1:p.Ser301Thr, XP_047284392.1:p.Ser497Thr

                                      19.

                                      rs1468483388 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        12:55936562 (GRCh38)
                                        12:56330346 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:55936561:T:C
                                        Gene:
                                        DGKA (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000012.12:g.55936562T>C, NC_000012.11:g.56330346T>C, NM_001345.5:c.59T>C, NM_001345.4:c.59T>C, XM_017018901.3:c.59T>C, XM_017018901.2:c.59T>C, XM_017018901.1:c.59T>C, NM_201444.3:c.59T>C, NM_201444.2:c.59T>C, XM_011537993.3:c.59T>C, XM_011537993.2:c.59T>C, XM_011537993.1:c.59T>C, XM_017018907.2:c.59T>C, XM_017018907.1:c.59T>C, NR_147027.2:n.433T>C, NR_147027.1:n.468T>C, XM_017018902.2:c.59T>C, XM_017018902.1:c.59T>C, NM_001351034.2:c.59T>C, NM_001351034.1:c.59T>C, NR_147026.2:n.201T>C, NR_147026.1:n.236T>C, NM_201445.2:c.59T>C, NM_201445.1:c.59T>C, NM_001351033.2:c.59T>C, NM_001351033.1:c.59T>C, NM_001351040.2:c.-915T>C, NM_001351040.1:c.-915T>C, NM_001351036.2:c.-379T>C, NM_001351036.1:c.-379T>C, NM_201554.2:c.59T>C, NM_201554.1:c.59T>C, NM_001351038.2:c.-915T>C, NM_001351038.1:c.-915T>C, NM_001351039.2:c.-915T>C, NM_001351039.1:c.-915T>C, XM_047428434.1:c.59T>C, XM_017018900.1:c.173T>C, XM_017018908.1:c.173T>C, XM_047428435.1:c.59T>C, NM_001351037.1:c.-379T>C, NM_001351035.1:c.173T>C, XM_047428436.1:c.173T>C, NP_001336.2:p.Met20Thr, XP_016874390.1:p.Met20Thr, NP_958852.1:p.Met20Thr, XP_011536295.1:p.Met20Thr, XP_016874396.1:p.Met20Thr, XP_016874391.1:p.Met20Thr, NP_001337963.1:p.Met20Thr, NP_958853.1:p.Met20Thr, NP_001337962.1:p.Met20Thr, NP_963848.1:p.Met20Thr, XP_047284390.1:p.Met20Thr, XP_016874389.1:p.Met58Thr, XP_016874397.1:p.Met58Thr, XP_047284391.1:p.Met20Thr, NP_001337964.1:p.Met58Thr, XP_047284392.1:p.Met58Thr

                                        20.

                                        rs1467023536 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          12:55953723 (GRCh38)
                                          12:56347507 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:55953722:G:A
                                          Gene:
                                          DGKA (Varview), PMEL (Varview)
                                          Functional Consequence:
                                          500B_downstream_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
                                          HGVS:
                                          NC_000012.12:g.55953723G>A, NC_000012.11:g.56347507G>A, NG_028086.1:g.17990C>T, NM_001345.5:c.2163G>A, NM_001345.4:c.2163G>A, XM_017018901.3:c.2517G>A, XM_017018901.2:c.2517G>A, XM_017018901.1:c.2517G>A, NM_201444.3:c.2163G>A, NM_201444.2:c.2163G>A, XM_011537993.3:c.2163G>A, XM_011537993.2:c.2163G>A, XM_011537993.1:c.2163G>A, XM_011537995.3:c.1827G>A, XM_011537995.2:c.1827G>A, XM_011537995.1:c.1827G>A, XM_017018907.2:c.2517G>A, XM_017018907.1:c.2517G>A, NR_147027.2:n.2670G>A, NR_147027.1:n.2705G>A, XM_017018902.2:c.2517G>A, XM_017018902.1:c.2517G>A, NM_001351034.2:c.2163G>A, NM_001351034.1:c.2163G>A, NR_147026.2:n.2427G>A, NR_147026.1:n.2462G>A, NM_201445.2:c.2163G>A, NM_201445.1:c.2163G>A, NM_001351033.2:c.2163G>A, NM_001351033.1:c.2163G>A, NM_001351040.2:c.1101G>A, NM_001351040.1:c.1101G>A, NM_001351036.2:c.1740G>A, NM_001351036.1:c.1740G>A, NM_201554.2:c.2163G>A, NM_201554.1:c.2163G>A, NM_001351038.2:c.1101G>A, NM_001351038.1:c.1101G>A, NM_001351039.2:c.1101G>A, NM_001351039.1:c.1101G>A, XM_047428434.1:c.2163G>A, XM_017018900.1:c.2631G>A, XM_017018908.1:c.2415G>A, XM_047428435.1:c.2163G>A, NM_001351037.1:c.1740G>A, NM_001351035.1:c.2277G>A, XM_047428437.1:c.2043G>A, NP_001336.2:p.Met721Ile, XP_016874390.1:p.Met839Ile, NP_958852.1:p.Met721Ile, XP_011536295.1:p.Met721Ile, XP_011536297.1:p.Met609Ile, XP_016874396.1:p.Met839Ile, XP_016874391.1:p.Met839Ile, NP_001337963.1:p.Met721Ile, NP_958853.1:p.Met721Ile, NP_001337962.1:p.Met721Ile, NP_001337969.1:p.Met367Ile, NP_001337965.1:p.Met580Ile, NP_963848.1:p.Met721Ile, NP_001337967.1:p.Met367Ile, NP_001337968.1:p.Met367Ile, XP_047284390.1:p.Met721Ile, XP_016874389.1:p.Met877Ile, XP_016874397.1:p.Met805Ile, XP_047284391.1:p.Met721Ile, NP_001337966.1:p.Met580Ile, NP_001337964.1:p.Met759Ile, XP_047284393.1:p.Met681Ile

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