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Items: 1 to 20 of 554

1.

rs1490811220 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    17:80198683 (GRCh38)
    17:78172482 (GRCh37)
    Canonical SPDI:
    NC_000017.11:80198682:G:A,NC_000017.11:80198682:G:C
    Gene:
    CARD14 (Varview)
    Functional Consequence:
    coding_sequence_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
    HGVS:

    2.

    rs1490196376 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      17:80198634 (GRCh38)
      17:78172433 (GRCh37)
      Canonical SPDI:
      NC_000017.11:80198633:G:A
      Gene:
      CARD14 (Varview)
      Functional Consequence:
      coding_sequence_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:

      3.

      rs1487206195 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        17:80189860 (GRCh38)
        17:78163659 (GRCh37)
        Canonical SPDI:
        NC_000017.11:80189859:G:A
        Gene:
        CARD14 (Varview)
        Functional Consequence:
        synonymous_variant,non_coding_transcript_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:

        4.

        rs1483653877 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          17:80198597 (GRCh38)
          17:78172396 (GRCh37)
          Canonical SPDI:
          NC_000017.11:80198596:C:T
          Gene:
          CARD14 (Varview)
          Functional Consequence:
          coding_sequence_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000028/1 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:

          5.

          rs1482414658 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            17:80195267 (GRCh38)
            17:78169066 (GRCh37)
            Canonical SPDI:
            NC_000017.11:80195266:C:A,NC_000017.11:80195266:C:T
            Gene:
            CARD14 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            A=0.000004/1 (TOPMED)
            HGVS:
            NC_000017.11:g.80195267C>A, NC_000017.11:g.80195267C>T, NC_000017.10:g.78169066C>A, NC_000017.10:g.78169066C>T, NG_032778.1:g.30276C>A, NG_032778.1:g.30276C>T, NM_024110.4:c.1433C>A, NM_024110.4:c.1433C>T, NM_052819.3:c.722C>A, NM_052819.3:c.722C>T, NM_052819.2:c.722C>A, NM_052819.2:c.722C>T, NR_047566.2:n.1560C>A, NR_047566.2:n.1560C>T, NR_047566.1:n.1598C>A, NR_047566.1:n.1598C>T, NM_001366385.1:c.1433C>A, NM_001366385.1:c.1433C>T, NM_001257970.1:c.1433C>A, NM_001257970.1:c.1433C>T, NW_025791802.1:g.219973C>A, NW_025791802.1:g.219973C>T, XM_011525213.2:c.1433C>A, XM_011525213.2:c.1433C>T, XM_011525213.1:c.1433C>A, XM_011525213.1:c.1433C>T, XM_011525218.2:c.1433C>A, XM_011525218.2:c.1433C>T, XM_011525218.1:c.1433C>A, XM_011525218.1:c.1433C>T, XM_011525216.2:c.1433C>A, XM_011525216.2:c.1433C>T, XM_011525216.1:c.1433C>A, XM_011525216.1:c.1433C>T, XM_047436719.1:c.1433C>A, XM_047436719.1:c.1433C>T, XM_047436715.1:c.1433C>A, XM_047436715.1:c.1433C>T, XM_047436713.1:c.1433C>A, XM_047436713.1:c.1433C>T, XM_047436714.1:c.1433C>A, XM_047436714.1:c.1433C>T, XM_047436718.1:c.1433C>A, XM_047436718.1:c.1433C>T, XM_047436720.1:c.1433C>A, XM_047436720.1:c.1433C>T, XM_047436721.1:c.1433C>A, XM_047436721.1:c.1433C>T, XM_047436722.1:c.1433C>A, XM_047436722.1:c.1433C>T, XM_047436723.1:c.1433C>A, XM_047436723.1:c.1433C>T, XM_047436717.1:c.1433C>A, XM_047436717.1:c.1433C>T, XM_047436716.1:c.1433C>A, XM_047436716.1:c.1433C>T, NP_077015.2:p.Pro478His, NP_077015.2:p.Pro478Leu, NP_438170.1:p.Pro241His, NP_438170.1:p.Pro241Leu, NP_001353314.1:p.Pro478His, NP_001353314.1:p.Pro478Leu, NP_001244899.1:p.Pro478His, NP_001244899.1:p.Pro478Leu, XP_011523515.1:p.Pro478His, XP_011523515.1:p.Pro478Leu, XP_011523520.1:p.Pro478His, XP_011523520.1:p.Pro478Leu, XP_011523518.1:p.Pro478His, XP_011523518.1:p.Pro478Leu, XP_047292675.1:p.Pro478His, XP_047292675.1:p.Pro478Leu, XP_047292671.1:p.Pro478His, XP_047292671.1:p.Pro478Leu, XP_047292669.1:p.Pro478His, XP_047292669.1:p.Pro478Leu, XP_047292670.1:p.Pro478His, XP_047292670.1:p.Pro478Leu, XP_047292674.1:p.Pro478His, XP_047292674.1:p.Pro478Leu, XP_047292676.1:p.Pro478His, XP_047292676.1:p.Pro478Leu, XP_047292677.1:p.Pro478His, XP_047292677.1:p.Pro478Leu, XP_047292678.1:p.Pro478His, XP_047292678.1:p.Pro478Leu, XP_047292679.1:p.Pro478His, XP_047292679.1:p.Pro478Leu, XP_047292673.1:p.Pro478His, XP_047292673.1:p.Pro478Leu, XP_047292672.1:p.Pro478His, XP_047292672.1:p.Pro478Leu

            6.

            rs1476758905 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              17:80189862 (GRCh38)
              17:78163661 (GRCh37)
              Canonical SPDI:
              NC_000017.11:80189861:A:T
              Gene:
              CARD14 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,missense_variant
              HGVS:
              NC_000017.11:g.80189862A>T, NC_000017.10:g.78163661A>T, NG_032778.1:g.24871A>T, NM_024110.4:c.953A>T, NM_052819.3:c.242A>T, NM_052819.2:c.242A>T, NR_047566.2:n.1148A>T, NR_047566.1:n.1186A>T, NM_001366385.1:c.953A>T, NM_001257970.1:c.953A>T, NW_025791802.1:g.214568A>T, XM_011525213.2:c.953A>T, XM_011525213.1:c.953A>T, XM_011525218.2:c.953A>T, XM_011525218.1:c.953A>T, XM_011525216.2:c.953A>T, XM_011525216.1:c.953A>T, XM_047436719.1:c.953A>T, XM_047436715.1:c.953A>T, XM_047436713.1:c.953A>T, XM_047436714.1:c.953A>T, XM_047436718.1:c.953A>T, XM_047436720.1:c.953A>T, XM_047436721.1:c.953A>T, XM_047436722.1:c.953A>T, XM_047436723.1:c.953A>T, XM_047436717.1:c.953A>T, XM_047436716.1:c.953A>T, NP_077015.2:p.Gln318Leu, NP_438170.1:p.Gln81Leu, NP_001353314.1:p.Gln318Leu, NP_001244899.1:p.Gln318Leu, XP_011523515.1:p.Gln318Leu, XP_011523520.1:p.Gln318Leu, XP_011523518.1:p.Gln318Leu, XP_047292675.1:p.Gln318Leu, XP_047292671.1:p.Gln318Leu, XP_047292669.1:p.Gln318Leu, XP_047292670.1:p.Gln318Leu, XP_047292674.1:p.Gln318Leu, XP_047292676.1:p.Gln318Leu, XP_047292677.1:p.Gln318Leu, XP_047292678.1:p.Gln318Leu, XP_047292679.1:p.Gln318Leu, XP_047292673.1:p.Gln318Leu, XP_047292672.1:p.Gln318Leu

              7.

              rs1474713035 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                17:80198130 (GRCh38)
                17:78171929 (GRCh37)
                Canonical SPDI:
                NC_000017.11:80198129:A:G
                Gene:
                CARD14 (Varview)
                Functional Consequence:
                synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000015/4 (TOPMED)
                HGVS:

                8.

                rs1473979192 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  17:80191376 (GRCh38)
                  17:78165175 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:80191375:G:A
                  Gene:
                  CARD14 (Varview)
                  Functional Consequence:
                  synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000004/1 (TOPMED)
                  HGVS:

                  9.

                  rs1473368069 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    17:80198410 (GRCh38)
                    17:78172209 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:80198409:T:C
                    Gene:
                    CARD14 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000017.11:g.80198410T>C, NC_000017.10:g.78172209T>C, NG_032778.1:g.33419T>C, NM_024110.4:c.1670T>C, NM_052819.3:c.959T>C, NM_052819.2:c.959T>C, NR_047566.2:n.1797T>C, NR_047566.1:n.1835T>C, NM_001366385.1:c.1670T>C, NM_001257970.1:c.1670T>C, NW_025791802.1:g.223116T>C, XM_011525213.2:c.1670T>C, XM_011525213.1:c.1670T>C, XM_011525218.2:c.1670T>C, XM_011525218.1:c.1670T>C, XM_011525216.2:c.1670T>C, XM_011525216.1:c.1670T>C, XM_047436719.1:c.1670T>C, XM_047436715.1:c.1670T>C, XM_047436713.1:c.1670T>C, XM_047436714.1:c.1670T>C, XM_047436718.1:c.1667T>C, XM_047436720.1:c.1670T>C, XM_047436721.1:c.1670T>C, XM_047436722.1:c.1670T>C, XM_047436723.1:c.1606T>C, XM_047436717.1:c.1670T>C, XM_047436716.1:c.1670T>C, NP_077015.2:p.Met557Thr, NP_438170.1:p.Met320Thr, NP_001353314.1:p.Met557Thr, NP_001244899.1:p.Met557Thr, XP_011523515.1:p.Met557Thr, XP_011523520.1:p.Met557Thr, XP_011523518.1:p.Met557Thr, XP_047292675.1:p.Met557Thr, XP_047292671.1:p.Met557Thr, XP_047292669.1:p.Met557Thr, XP_047292670.1:p.Met557Thr, XP_047292674.1:p.Met556Thr, XP_047292676.1:p.Met557Thr, XP_047292677.1:p.Met557Thr, XP_047292678.1:p.Met557Thr, XP_047292679.1:p.Cys536Arg, XP_047292673.1:p.Met557Thr, XP_047292672.1:p.Met557Thr

                    10.

                    rs1473054779 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      17:80198720 (GRCh38)
                      17:78172519 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:80198719:T:G
                      Gene:
                      CARD14 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1471772503 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        17:80188476 (GRCh38)
                        17:78162275 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:80188475:T:C
                        Gene:
                        CARD14 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,coding_sequence_variant,missense_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_000017.11:g.80188476T>C, NC_000017.10:g.78162275T>C, NG_032778.1:g.23485T>C, NM_024110.4:c.775T>C, NM_052819.3:c.64T>C, NM_052819.2:c.64T>C, NR_047566.2:n.970T>C, NR_047566.1:n.1008T>C, NM_001366385.1:c.775T>C, NM_001257970.1:c.775T>C, NW_025791802.1:g.213182T>C, XM_011525213.2:c.775T>C, XM_011525213.1:c.775T>C, XM_011525218.2:c.775T>C, XM_011525218.1:c.775T>C, XM_011525216.2:c.775T>C, XM_011525216.1:c.775T>C, XM_047436719.1:c.775T>C, XM_047436715.1:c.775T>C, XM_047436713.1:c.775T>C, XM_047436714.1:c.775T>C, XM_047436718.1:c.775T>C, XM_047436720.1:c.775T>C, XM_047436721.1:c.775T>C, XM_047436722.1:c.775T>C, XM_047436723.1:c.775T>C, XM_047436717.1:c.775T>C, XM_047436716.1:c.775T>C, NP_077015.2:p.Ser259Pro, NP_438170.1:p.Ser22Pro, NP_001353314.1:p.Ser259Pro, NP_001244899.1:p.Ser259Pro, XP_011523515.1:p.Ser259Pro, XP_011523520.1:p.Ser259Pro, XP_011523518.1:p.Ser259Pro, XP_047292675.1:p.Ser259Pro, XP_047292671.1:p.Ser259Pro, XP_047292669.1:p.Ser259Pro, XP_047292670.1:p.Ser259Pro, XP_047292674.1:p.Ser259Pro, XP_047292676.1:p.Ser259Pro, XP_047292677.1:p.Ser259Pro, XP_047292678.1:p.Ser259Pro, XP_047292679.1:p.Ser259Pro, XP_047292673.1:p.Ser259Pro, XP_047292672.1:p.Ser259Pro

                        12.

                        rs1471564601 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          17:80192522 (GRCh38)
                          17:78166321 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:80192521:C:T
                          Gene:
                          CARD14 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          T=0.000012/3 (GnomAD_exomes)
                          T=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000017.11:g.80192522C>T, NC_000017.10:g.78166321C>T, NG_032778.1:g.27531C>T, NM_024110.4:c.1259C>T, NM_052819.3:c.548C>T, NM_052819.2:c.548C>T, NR_047566.2:n.1386C>T, NR_047566.1:n.1424C>T, NM_001366385.1:c.1259C>T, NM_001257970.1:c.1259C>T, NW_025791802.1:g.217228C>T, XM_011525213.2:c.1259C>T, XM_011525213.1:c.1259C>T, XM_011525218.2:c.1259C>T, XM_011525218.1:c.1259C>T, XM_011525216.2:c.1259C>T, XM_011525216.1:c.1259C>T, XM_047436719.1:c.1259C>T, XM_047436715.1:c.1259C>T, XM_047436713.1:c.1259C>T, XM_047436714.1:c.1259C>T, XM_047436718.1:c.1259C>T, XM_047436720.1:c.1259C>T, XM_047436721.1:c.1259C>T, XM_047436722.1:c.1259C>T, XM_047436723.1:c.1259C>T, XM_047436717.1:c.1259C>T, XM_047436716.1:c.1259C>T, NP_077015.2:p.Thr420Ile, NP_438170.1:p.Thr183Ile, NP_001353314.1:p.Thr420Ile, NP_001244899.1:p.Thr420Ile, XP_011523515.1:p.Thr420Ile, XP_011523520.1:p.Thr420Ile, XP_011523518.1:p.Thr420Ile, XP_047292675.1:p.Thr420Ile, XP_047292671.1:p.Thr420Ile, XP_047292669.1:p.Thr420Ile, XP_047292670.1:p.Thr420Ile, XP_047292674.1:p.Thr420Ile, XP_047292676.1:p.Thr420Ile, XP_047292677.1:p.Thr420Ile, XP_047292678.1:p.Thr420Ile, XP_047292679.1:p.Thr420Ile, XP_047292673.1:p.Thr420Ile, XP_047292672.1:p.Thr420Ile

                          13.

                          rs1471522812 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            17:80190776 (GRCh38)
                            17:78164575 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:80190775:C:T
                            Gene:
                            CARD14 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            HGVS:

                            14.

                            rs1467603181 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              17:80198133 (GRCh38)
                              17:78171932 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:80198132:C:A
                              Gene:
                              CARD14 (Varview)
                              Functional Consequence:
                              synonymous_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000019/5 (TOPMED)
                              HGVS:

                              15.

                              rs1467139714 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                17:80195579 (GRCh38)
                                17:78169378 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:80195578:G:C
                                Gene:
                                CARD14 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000017.11:g.80195579G>C, NC_000017.10:g.78169378G>C, NG_032778.1:g.30588G>C, NM_024110.4:c.1521G>C, NM_052819.3:c.810G>C, NM_052819.2:c.810G>C, NR_047566.2:n.1648G>C, NR_047566.1:n.1686G>C, NM_001366385.1:c.1521G>C, NM_001257970.1:c.1521G>C, NW_025791802.1:g.220285G>C, XM_011525213.2:c.1521G>C, XM_011525213.1:c.1521G>C, XM_011525218.2:c.1521G>C, XM_011525218.1:c.1521G>C, XM_011525216.2:c.1521G>C, XM_011525216.1:c.1521G>C, XM_047436719.1:c.1521G>C, XM_047436715.1:c.1521G>C, XM_047436713.1:c.1521G>C, XM_047436714.1:c.1521G>C, XM_047436718.1:c.1518G>C, XM_047436720.1:c.1521G>C, XM_047436721.1:c.1521G>C, XM_047436722.1:c.1521G>C, XM_047436723.1:c.1521G>C, XM_047436717.1:c.1521G>C, XM_047436716.1:c.1521G>C, NP_077015.2:p.Glu507Asp, NP_438170.1:p.Glu270Asp, NP_001353314.1:p.Glu507Asp, NP_001244899.1:p.Glu507Asp, XP_011523515.1:p.Glu507Asp, XP_011523520.1:p.Glu507Asp, XP_011523518.1:p.Glu507Asp, XP_047292675.1:p.Glu507Asp, XP_047292671.1:p.Glu507Asp, XP_047292669.1:p.Glu507Asp, XP_047292670.1:p.Glu507Asp, XP_047292674.1:p.Glu506Asp, XP_047292676.1:p.Glu507Asp, XP_047292677.1:p.Glu507Asp, XP_047292678.1:p.Glu507Asp, XP_047292679.1:p.Glu507Asp, XP_047292673.1:p.Glu507Asp, XP_047292672.1:p.Glu507Asp

                                16.

                                rs1460586348 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->A [Show Flanks]
                                  Chromosome:
                                  17:80198752 (GRCh38)
                                  17:78172552 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:80198752:A:AA
                                  Gene:
                                  CARD14 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,genic_downstream_transcript_variant,frameshift_variant,intron_variant,stop_lost,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000005/1 (GnomAD_exomes)
                                  HGVS:

                                  17.

                                  rs1458847947 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    17:80189854 (GRCh38)
                                    17:78163653 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:80189853:C:T
                                    Gene:
                                    CARD14 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    T=0.000014/2 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1457104128 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      17:80198554 (GRCh38)
                                      17:78172353 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:80198553:A:G
                                      Gene:
                                      CARD14 (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000224/1 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000223/1 (Estonian)
                                      HGVS:
                                      NC_000017.11:g.80198554A>G, NC_000017.10:g.78172353A>G, NG_032778.1:g.33563A>G, NM_024110.4:c.1814A>G, NM_052819.3:c.1103A>G, NM_052819.2:c.1103A>G, NR_047566.2:n.1941A>G, NR_047566.1:n.1979A>G, NM_001366385.1:c.1814A>G, NM_001257970.1:c.1814A>G, NW_025791802.1:g.223260A>G, XM_011525213.2:c.1814A>G, XM_011525213.1:c.1814A>G, XM_011525218.2:c.1814A>G, XM_011525218.1:c.1814A>G, XM_011525216.2:c.1814A>G, XM_011525216.1:c.1814A>G, XM_047436719.1:c.1814A>G, XM_047436717.1:c.1814A>G, XM_047436715.1:c.1814A>G, XM_047436713.1:c.1814A>G, XM_047436714.1:c.1814A>G, XM_047436716.1:c.1814A>G, XM_047436718.1:c.1811A>G, XM_047436721.1:c.1814A>G, XM_047436722.1:c.1814A>G, XM_047436720.1:c.1814A>G, NP_077015.2:p.Asp605Gly, NP_438170.1:p.Asp368Gly, NP_001353314.1:p.Asp605Gly, NP_001244899.1:p.Asp605Gly, XP_011523515.1:p.Asp605Gly, XP_011523520.1:p.Asp605Gly, XP_011523518.1:p.Asp605Gly, XP_047292675.1:p.Asp605Gly, XP_047292673.1:p.Asp605Gly, XP_047292671.1:p.Asp605Gly, XP_047292669.1:p.Asp605Gly, XP_047292670.1:p.Asp605Gly, XP_047292672.1:p.Asp605Gly, XP_047292674.1:p.Asp604Gly, XP_047292677.1:p.Asp605Gly, XP_047292678.1:p.Asp605Gly, XP_047292676.1:p.Asp605Gly

                                      19.

                                      rs1454031117 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        17:80189806 (GRCh38)
                                        17:78163605 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:80189805:G:A
                                        Gene:
                                        CARD14 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                        HGVS:

                                        20.

                                        rs1448813014 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          17:80195622 (GRCh38)
                                          17:78169421 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:80195621:C:T
                                          Gene:
                                          CARD14 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:
                                          NC_000017.11:g.80195622C>T, NC_000017.10:g.78169421C>T, NG_032778.1:g.30631C>T, NM_024110.4:c.1564C>T, NM_052819.3:c.853C>T, NM_052819.2:c.853C>T, NR_047566.2:n.1691C>T, NR_047566.1:n.1729C>T, NM_001366385.1:c.1564C>T, NM_001257970.1:c.1564C>T, NW_025791802.1:g.220328C>T, XM_011525213.2:c.1564C>T, XM_011525213.1:c.1564C>T, XM_011525218.2:c.1564C>T, XM_011525218.1:c.1564C>T, XM_011525216.2:c.1564C>T, XM_011525216.1:c.1564C>T, XM_047436719.1:c.1564C>T, XM_047436715.1:c.1564C>T, XM_047436713.1:c.1564C>T, XM_047436714.1:c.1564C>T, XM_047436718.1:c.1561C>T, XM_047436720.1:c.1564C>T, XM_047436721.1:c.1564C>T, XM_047436722.1:c.1564C>T, XM_047436723.1:c.1564C>T, XM_047436717.1:c.1564C>T, XM_047436716.1:c.1564C>T, NP_077015.2:p.His522Tyr, NP_438170.1:p.His285Tyr, NP_001353314.1:p.His522Tyr, NP_001244899.1:p.His522Tyr, XP_011523515.1:p.His522Tyr, XP_011523520.1:p.His522Tyr, XP_011523518.1:p.His522Tyr, XP_047292675.1:p.His522Tyr, XP_047292671.1:p.His522Tyr, XP_047292669.1:p.His522Tyr, XP_047292670.1:p.His522Tyr, XP_047292674.1:p.His521Tyr, XP_047292676.1:p.His522Tyr, XP_047292677.1:p.His522Tyr, XP_047292678.1:p.His522Tyr, XP_047292679.1:p.His522Tyr, XP_047292673.1:p.His522Tyr, XP_047292672.1:p.His522Tyr

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