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Items: 1 to 20 of 1258

1.

rs1489997151 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TGGACGGCTTCTGCTGCCTGTCTGT>- [Show Flanks]
    Chromosome:
    17:80201829 (GRCh38)
    17:78175628 (GRCh37)
    Canonical SPDI:
    NC_000017.11:80201828:TGGACGGCTTCTGCTGCCTGTCTGT:
    Gene:
    SGSH (Varview), CARD14 (Varview)
    Functional Consequence:
    frameshift_variant,coding_sequence_variant,splice_acceptor_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency
    MAF:
    -=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000017.11:g.80201829_80201853del, NC_000017.10:g.78175628_78175652del, NG_032778.1:g.36838_36862del, NM_024110.4:c.1937_1961del, NR_047566.2:n.2064_2088del, NR_047566.1:n.2102_2126del, NM_001366385.1:c.1937_1961del, NM_001257970.1:c.1937_1961del, NW_025791802.1:g.226535_226559del, XM_011525213.2:c.1937_1961del, XM_011525213.1:c.1937_1961del, XM_011525218.2:c.1937_1961del, XM_011525218.1:c.1937_1961del, XM_011525216.2:c.1937_1961del, XM_011525216.1:c.1937_1961del, XR_007065415.1:n.5423_5447del, XR_007065423.1:n.5333_5357del, XR_007065417.1:n.5297_5321del, XR_007065418.1:n.4890_4914del, XR_007065404.1:n.4792_4816del, XR_007065422.1:n.4248_4272del, XM_047436719.1:c.1937_1961del, XR_007065420.1:n.4122_4146del, XR_007065419.1:n.3715_3739del, XR_007065407.1:n.3617_3641del, XM_047436717.1:c.1937_1961del, XM_047436715.1:c.1937_1961del, XM_047436713.1:c.1937_1961del, XM_047436714.1:c.1937_1961del, XM_047436716.1:c.1937_1961del, XM_047436718.1:c.1934_1958del, XM_047436720.1:c.1937_1961del, XM_047436721.1:c.1937_1961del, XR_007065409.1:n.4406_4430del, XR_007069550.1:n.4775_4799del, XR_007069555.1:n.4649_4673del, XR_007069556.1:n.4242_4266del, XR_007069552.1:n.4144_4168del, XR_007069564.1:n.3600_3624del, XR_007069561.1:n.3474_3498del, XR_007069566.1:n.3127_3151del, XR_007069558.1:n.3067_3091del, XR_007069554.1:n.2969_2993del, NP_077015.2:p.Val646fs, NP_001353314.1:p.Val646fs, NP_001244899.1:p.Val646fs, XP_011523515.1:p.Val646fs, XP_011523520.1:p.Val646fs, XP_011523518.1:p.Val646fs, XP_047292675.1:p.Val646fs, XP_047292673.1:p.Val646fs, XP_047292671.1:p.Val646fs, XP_047292669.1:p.Val646fs, XP_047292670.1:p.Val646fs, XP_047292672.1:p.Val646fs, XP_047292674.1:p.Val645fs, XP_047292676.1:p.Val646fs, XP_047292677.1:p.Val646fs

    2.

    rs1489543427 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      A>- [Show Flanks]
      Chromosome:
      17:80203883 (GRCh38)
      17:78177682 (GRCh37)
      Canonical SPDI:
      NC_000017.11:80203882:AA:A
      Gene:
      SGSH (Varview), CARD14 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
      HGVS:
      NC_000017.11:g.80203884del, NC_000017.10:g.78177683del, NG_032778.1:g.38893del, NM_024110.4:c.2282del, NR_047566.2:n.2409del, NR_047566.1:n.2447del, NM_001366385.1:c.2282del, NW_025791802.1:g.228590del, XM_011525213.2:c.2282del, XM_011525213.1:c.2282del, XM_011525218.2:c.2282del, XM_011525218.1:c.2282del, XM_011525216.2:c.2282del, XM_011525216.1:c.2282del, XR_001752590.2:n.1846del, XR_001752590.1:n.1846del, XR_007065415.1:n.3494del, XR_007065423.1:n.3404del, XR_007065417.1:n.3368del, XR_007065418.1:n.2961del, XR_007065404.1:n.2863del, XR_007065409.1:n.2477del, XR_007065421.1:n.2863del, XR_007065422.1:n.3494del, XM_047436719.1:c.2282del, XR_007065420.1:n.3368del, XR_007065419.1:n.2961del, XR_007065407.1:n.2863del, XR_007065414.1:n.3494del, XM_047436717.1:c.2282del, XR_007065405.1:n.3368del, XM_047436715.1:c.2282del, XM_047436713.1:c.2282del, XM_047436714.1:c.2282del, XM_047436716.1:c.2282del, XR_007065408.1:n.2961del, XR_007065416.1:n.2863del, XR_007065406.1:n.2961del, XR_007065424.1:n.2871del, XR_007065403.1:n.2863del, XR_007065410.1:n.2773del, XR_007065413.1:n.2387del, XR_007065411.1:n.1944del, XM_047436720.1:c.2282del, XR_007065412.1:n.1653del, XM_047436718.1:c.2279del, XR_007069550.1:n.2846del, XR_007069555.1:n.2720del, XR_007069556.1:n.2313del, XR_007069552.1:n.2215del, XR_007069562.1:n.2215del, XR_007069564.1:n.2846del, XR_007069561.1:n.2720del, XR_007069566.1:n.1198del, XR_007069558.1:n.2313del, XR_007069567.1:n.2846del, XR_007069554.1:n.2215del, XR_007069549.1:n.2846del, XR_007069559.1:n.2741del, XR_007069557.1:n.2720del, XR_007069565.1:n.2667del, XR_007069563.1:n.2313del, XR_007069560.1:n.2334del, XR_007069551.1:n.2215del, XR_007069553.1:n.2313del, XR_007069547.1:n.2215del, XR_007069548.1:n.1982del, XR_007069568.1:n.1005del, NP_077015.2:p.Lys761fs, NP_001353314.1:p.Lys761fs, XP_011523515.1:p.Lys761fs, XP_011523520.1:p.Lys761fs, XP_011523518.1:p.Lys761fs, XP_047292675.1:p.Lys761fs, XP_047292673.1:p.Lys761fs, XP_047292671.1:p.Lys761fs, XP_047292669.1:p.Lys761fs, XP_047292670.1:p.Lys761fs, XP_047292672.1:p.Lys761fs, XP_047292676.1:p.Lys761fs, XP_047292674.1:p.Lys760fs

      3.

      rs1489217110 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        17:80181620 (GRCh38)
        17:78155419 (GRCh37)
        Canonical SPDI:
        NC_000017.11:80181619:C:T
        Gene:
        CARD14 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0./0 (GnomAD)
        T=0.000004/1 (TOPMED)
        HGVS:
        NC_000017.11:g.80181620C>T, NC_000017.10:g.78155419C>T, NG_032778.1:g.16629C>T, NM_024110.4:c.182C>T, NR_047566.2:n.377C>T, NR_047566.1:n.415C>T, NM_001366385.1:c.182C>T, NM_001257970.1:c.182C>T, NW_025791802.1:g.206326C>T, XM_011525213.2:c.182C>T, XM_011525213.1:c.182C>T, XM_011525218.2:c.182C>T, XM_011525218.1:c.182C>T, XM_011525216.2:c.182C>T, XM_011525216.1:c.182C>T, XM_047436719.1:c.182C>T, XM_047436717.1:c.182C>T, XM_047436715.1:c.182C>T, XM_047436713.1:c.182C>T, XM_047436714.1:c.182C>T, XM_047436716.1:c.182C>T, XM_047436718.1:c.182C>T, XM_047436720.1:c.182C>T, XM_047436721.1:c.182C>T, XM_047436722.1:c.182C>T, XM_047436723.1:c.182C>T, NP_077015.2:p.Pro61Leu, NP_001353314.1:p.Pro61Leu, NP_001244899.1:p.Pro61Leu, XP_011523515.1:p.Pro61Leu, XP_011523520.1:p.Pro61Leu, XP_011523518.1:p.Pro61Leu, XP_047292675.1:p.Pro61Leu, XP_047292673.1:p.Pro61Leu, XP_047292671.1:p.Pro61Leu, XP_047292669.1:p.Pro61Leu, XP_047292670.1:p.Pro61Leu, XP_047292672.1:p.Pro61Leu, XP_047292674.1:p.Pro61Leu, XP_047292676.1:p.Pro61Leu, XP_047292677.1:p.Pro61Leu, XP_047292678.1:p.Pro61Leu, XP_047292679.1:p.Pro61Leu

        4.

        rs1488565847 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          17:80202327 (GRCh38)
          17:78176126 (GRCh37)
          Canonical SPDI:
          NC_000017.11:80202326:T:C
          Gene:
          SGSH (Varview), CARD14 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000017.11:g.80202327T>C, NC_000017.10:g.78176126T>C, NG_032778.1:g.37336T>C, NM_024110.4:c.2126T>C, NR_047566.2:n.2253T>C, NR_047566.1:n.2291T>C, NM_001366385.1:c.2126T>C, NM_001257970.1:c.2126T>C, NW_025791802.1:g.227033T>C, XM_011525213.2:c.2126T>C, XM_011525213.1:c.2126T>C, XM_011525218.2:c.2126T>C, XM_011525218.1:c.2126T>C, XM_011525216.2:c.2126T>C, XM_011525216.1:c.2126T>C, XR_007065415.1:n.4949A>G, XR_007065423.1:n.4859A>G, XR_007065417.1:n.4823A>G, XR_007065418.1:n.4416A>G, XR_007065404.1:n.4318A>G, XR_007065422.1:n.3774A>G, XM_047436719.1:c.2126T>C, XR_007065420.1:n.3648A>G, XR_007065419.1:n.3241A>G, XR_007065407.1:n.3143A>G, XM_047436717.1:c.2126T>C, XM_047436715.1:c.2126T>C, XM_047436713.1:c.2126T>C, XM_047436714.1:c.2126T>C, XM_047436716.1:c.2126T>C, XM_047436718.1:c.2123T>C, XM_047436720.1:c.2126T>C, XM_047436721.1:c.2126T>C, XM_047436722.1:c.1999T>C, XR_007065409.1:n.3932A>G, XR_007069550.1:n.4301A>G, XR_007069555.1:n.4175A>G, XR_007069556.1:n.3768A>G, XR_007069552.1:n.3670A>G, XR_007069564.1:n.3126A>G, XR_007069561.1:n.3000A>G, XR_007069566.1:n.2653A>G, XR_007069558.1:n.2593A>G, XR_007069554.1:n.2495A>G, NP_077015.2:p.Met709Thr, NP_001353314.1:p.Met709Thr, NP_001244899.1:p.Met709Thr, XP_011523515.1:p.Met709Thr, XP_011523520.1:p.Met709Thr, XP_011523518.1:p.Met709Thr, XP_047292675.1:p.Met709Thr, XP_047292673.1:p.Met709Thr, XP_047292671.1:p.Met709Thr, XP_047292669.1:p.Met709Thr, XP_047292670.1:p.Met709Thr, XP_047292672.1:p.Met709Thr, XP_047292674.1:p.Met708Thr, XP_047292676.1:p.Met709Thr, XP_047292677.1:p.Met709Thr, XP_047292678.1:p.Cys667Arg

          5.

          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:

            6.

            rs1486481223 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              17:80181591 (GRCh38)
              17:78155390 (GRCh37)
              Canonical SPDI:
              NC_000017.11:80181590:G:A
              Gene:
              CARD14 (Varview)
              Functional Consequence:
              synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
              HGVS:

              7.

              rs1486223942 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                17:80205169 (GRCh38)
                17:78178968 (GRCh37)
                Canonical SPDI:
                NC_000017.11:80205168:C:T
                Gene:
                SGSH (Varview), CARD14 (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant,missense_variant
                Validated:
                by frequency,by cluster
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                T=0.000007/1 (GnomAD)
                HGVS:

                8.

                rs1484562517 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  17:80208318 (GRCh38)
                  17:78182117 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:80208317:G:A,NC_000017.11:80208317:G:T
                  Gene:
                  SGSH (Varview), CARD14 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000017.11:g.80208318G>A, NC_000017.11:g.80208318G>T, NC_000017.10:g.78182117G>A, NC_000017.10:g.78182117G>T, NG_032778.1:g.43327G>A, NG_032778.1:g.43327G>T, NM_024110.4:c.2988G>A, NM_024110.4:c.2988G>T, NR_047566.2:n.3125G>A, NR_047566.2:n.3125G>T, NR_047566.1:n.3163G>A, NR_047566.1:n.3163G>T, NM_001366385.1:c.2988G>A, NM_001366385.1:c.2988G>T, NG_008229.1:g.17083C>T, NG_008229.1:g.17083C>A, NW_025791802.1:g.233024G>A, NW_025791802.1:g.233024G>T, XM_011525213.2:c.2988G>A, XM_011525213.2:c.2988G>T, XM_011525213.1:c.2988G>A, XM_011525213.1:c.2988G>T, XM_011525218.2:c.2988G>A, XM_011525218.2:c.2988G>T, XM_011525218.1:c.2988G>A, XM_011525218.1:c.2988G>T, XM_011525216.2:c.2988G>A, XM_011525216.2:c.2988G>T, XM_011525216.1:c.2988G>A, XM_011525216.1:c.2988G>T, XM_047436719.1:c.*1229G>A, XM_047436719.1:c.*1229G>T, XM_047436715.1:c.2988G>A, XM_047436715.1:c.2988G>T, XM_047436713.1:c.2988G>A, XM_047436713.1:c.2988G>T, XM_047436714.1:c.2988G>A, XM_047436714.1:c.2988G>T, XM_047436716.1:c.2988G>A, XM_047436716.1:c.2988G>T, XM_047436718.1:c.2985G>A, XM_047436718.1:c.2985G>T, XM_047436717.1:c.2988G>A, XM_047436717.1:c.2988G>T

                  9.

                  rs1483595630 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    17:80184203 (GRCh38)
                    17:78158002 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:80184202:C:G,NC_000017.11:80184202:C:T
                    Gene:
                    CARD14 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,missense_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000017.11:g.80184203C>G, NC_000017.11:g.80184203C>T, NC_000017.10:g.78158002C>G, NC_000017.10:g.78158002C>T, NG_032778.1:g.19212C>G, NG_032778.1:g.19212C>T, NM_024110.4:c.640C>G, NM_024110.4:c.640C>T, NR_047566.2:n.835C>G, NR_047566.2:n.835C>T, NR_047566.1:n.873C>G, NR_047566.1:n.873C>T, NM_001366385.1:c.640C>G, NM_001366385.1:c.640C>T, NM_001257970.1:c.640C>G, NM_001257970.1:c.640C>T, NW_025791802.1:g.208909C>G, NW_025791802.1:g.208909C>T, XM_011525213.2:c.640C>G, XM_011525213.2:c.640C>T, XM_011525213.1:c.640C>G, XM_011525213.1:c.640C>T, XM_011525218.2:c.640C>G, XM_011525218.2:c.640C>T, XM_011525218.1:c.640C>G, XM_011525218.1:c.640C>T, XM_011525216.2:c.640C>G, XM_011525216.2:c.640C>T, XM_011525216.1:c.640C>G, XM_011525216.1:c.640C>T, XM_047436719.1:c.640C>G, XM_047436719.1:c.640C>T, XM_047436717.1:c.640C>G, XM_047436717.1:c.640C>T, XM_047436715.1:c.640C>G, XM_047436715.1:c.640C>T, XM_047436713.1:c.640C>G, XM_047436713.1:c.640C>T, XM_047436714.1:c.640C>G, XM_047436714.1:c.640C>T, XM_047436716.1:c.640C>G, XM_047436716.1:c.640C>T, XM_047436718.1:c.640C>G, XM_047436718.1:c.640C>T, XM_047436720.1:c.640C>G, XM_047436720.1:c.640C>T, XM_047436721.1:c.640C>G, XM_047436721.1:c.640C>T, XM_047436722.1:c.640C>G, XM_047436722.1:c.640C>T, XM_047436723.1:c.640C>G, XM_047436723.1:c.640C>T, NP_077015.2:p.Leu214Val, NP_001353314.1:p.Leu214Val, NP_001244899.1:p.Leu214Val, XP_011523515.1:p.Leu214Val, XP_011523520.1:p.Leu214Val, XP_011523518.1:p.Leu214Val, XP_047292675.1:p.Leu214Val, XP_047292673.1:p.Leu214Val, XP_047292671.1:p.Leu214Val, XP_047292669.1:p.Leu214Val, XP_047292670.1:p.Leu214Val, XP_047292672.1:p.Leu214Val, XP_047292674.1:p.Leu214Val, XP_047292676.1:p.Leu214Val, XP_047292677.1:p.Leu214Val, XP_047292678.1:p.Leu214Val, XP_047292679.1:p.Leu214Val

                    10.

                    rs1483435293 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      17:80184085 (GRCh38)
                      17:78157884 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:80184084:G:A
                      Gene:
                      CARD14 (Varview)
                      Functional Consequence:
                      synonymous_variant,genic_upstream_transcript_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:

                      11.

                      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

                        12.

                        rs1481520202 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          17:80208272 (GRCh38)
                          17:78182071 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:80208271:T:C
                          Gene:
                          SGSH (Varview), CARD14 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0.00005/1 (ALFA)
                          HGVS:

                          13.

                          rs1481480129 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            CTC>- [Show Flanks]
                            Chromosome:
                            17:80205130 (GRCh38)
                            17:78178929 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:80205126:CTCCTC:CTC
                            Gene:
                            SGSH (Varview), CARD14 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,inframe_deletion,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            CTCCTC=0.000084/1 (ALFA)
                            -=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000017.11:g.80205127CTC[1], NC_000017.10:g.78178926CTC[1], NG_032778.1:g.40136CTC[1], NM_024110.4:c.2491CTC[1], NR_047566.2:n.2628CTC[1], NR_047566.1:n.2666CTC[1], NM_001366385.1:c.2491CTC[1], NW_025791802.1:g.229833CTC[1], XM_011525213.2:c.2491CTC[1], XM_011525213.1:c.2491CTC[1], XM_011525218.2:c.2491CTC[1], XM_011525218.1:c.2491CTC[1], XM_011525216.2:c.2491CTC[1], XM_011525216.1:c.2491CTC[1], XM_047436719.1:c.2491CTC[1], XM_047436717.1:c.2491CTC[1], XM_047436715.1:c.2491CTC[1], XM_047436713.1:c.2491CTC[1], XM_047436714.1:c.2491CTC[1], XM_047436716.1:c.2491CTC[1], XM_047436720.1:c.2501CTC[1], XM_047436718.1:c.2488CTC[1], NP_077015.2:p.Leu832del, NP_001353314.1:p.Leu832del, XP_011523515.1:p.Leu832del, XP_011523520.1:p.Leu832del, XP_011523518.1:p.Leu832del, XP_047292675.1:p.Leu832del, XP_047292673.1:p.Leu832del, XP_047292671.1:p.Leu832del, XP_047292669.1:p.Leu832del, XP_047292670.1:p.Leu832del, XP_047292672.1:p.Leu832del, XP_047292676.1:p.Pro835del, XP_047292674.1:p.Leu831del

                            14.

                            rs1479700129 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              A>- [Show Flanks]
                              Chromosome:
                              17:80201774 (GRCh38)
                              17:78175573 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:80201773:AA:A
                              Gene:
                              SGSH (Varview), CARD14 (Varview)
                              Functional Consequence:
                              frameshift_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              -=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000017.11:g.80201775del, NC_000017.10:g.78175574del, NG_032778.1:g.36784del, NM_024110.4:c.1883del, NR_047566.2:n.2010del, NR_047566.1:n.2048del, NM_001366385.1:c.1883del, NM_001257970.1:c.1883del, NW_025791802.1:g.226481del, XM_011525213.2:c.1883del, XM_011525213.1:c.1883del, XM_011525218.2:c.1883del, XM_011525218.1:c.1883del, XM_011525216.2:c.1883del, XM_011525216.1:c.1883del, XR_001752590.2:n.2137del, XR_001752590.1:n.2137del, XR_007065415.1:n.5502del, XR_007065423.1:n.5412del, XR_007065417.1:n.5376del, XR_007065418.1:n.4969del, XR_007065404.1:n.4871del, XR_007065421.1:n.4329del, XR_007065422.1:n.4327del, XM_047436719.1:c.1883del, XR_007065420.1:n.4201del, XR_007065419.1:n.3794del, XR_007065407.1:n.3696del, XR_007065414.1:n.3675del, XM_047436717.1:c.1883del, XR_007065405.1:n.3549del, XM_047436715.1:c.1883del, XM_047436713.1:c.1883del, XM_047436714.1:c.1883del, XM_047436716.1:c.1883del, XR_007065408.1:n.3252del, XR_007065416.1:n.3154del, XR_007065406.1:n.3142del, XM_047436718.1:c.1880del, XR_007065424.1:n.3052del, XR_007065403.1:n.3044del, XR_007065410.1:n.2954del, XR_007065413.1:n.2678del, XR_007065411.1:n.2125del, XM_047436720.1:c.1883del, XR_007065412.1:n.1834del, XM_047436721.1:c.1883del, XR_007065409.1:n.4485del, XR_007069550.1:n.4854del, XR_007069555.1:n.4728del, XR_007069556.1:n.4321del, XR_007069552.1:n.4223del, XR_007069562.1:n.3681del, XR_007069564.1:n.3679del, XR_007069561.1:n.3553del, XR_007069566.1:n.3206del, XR_007069558.1:n.3146del, XR_007069567.1:n.3137del, XR_007069554.1:n.3048del, XR_007069549.1:n.3027del, XR_007069559.1:n.2922del, XR_007069557.1:n.2901del, XR_007069565.1:n.2848del, XR_007069563.1:n.2604del, XR_007069560.1:n.2515del, XR_007069551.1:n.2506del, XR_007069553.1:n.2494del, XR_007069547.1:n.2396del, XR_007069548.1:n.2163del, XR_007069568.1:n.1186del, NP_077015.2:p.Lys628fs, NP_001353314.1:p.Lys628fs, NP_001244899.1:p.Lys628fs, XP_011523515.1:p.Lys628fs, XP_011523520.1:p.Lys628fs, XP_011523518.1:p.Lys628fs, XP_047292675.1:p.Lys628fs, XP_047292673.1:p.Lys628fs, XP_047292671.1:p.Lys628fs, XP_047292669.1:p.Lys628fs, XP_047292670.1:p.Lys628fs, XP_047292672.1:p.Lys628fs, XP_047292674.1:p.Lys627fs, XP_047292676.1:p.Lys628fs, XP_047292677.1:p.Lys628fs

                              15.

                              rs1478945546 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                17:80205179 (GRCh38)
                                17:78178978 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:80205178:T:A
                                Gene:
                                SGSH (Varview), CARD14 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant,missense_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:
                                NC_000017.11:g.80205179T>A, NC_000017.10:g.78178978T>A, NG_032778.1:g.40188T>A, NM_024110.4:c.2543T>A, NR_047566.2:n.2680T>A, NR_047566.1:n.2718T>A, NM_001366385.1:c.2543T>A, NW_025791802.1:g.229885T>A, XM_011525213.2:c.2543T>A, XM_011525213.1:c.2543T>A, XM_011525218.2:c.2543T>A, XM_011525218.1:c.2543T>A, XM_011525216.2:c.2543T>A, XM_011525216.1:c.2543T>A, XM_047436719.1:c.2543T>A, XM_047436717.1:c.2543T>A, XM_047436715.1:c.2543T>A, XM_047436713.1:c.2543T>A, XM_047436714.1:c.2543T>A, XM_047436716.1:c.2543T>A, XM_047436720.1:c.2553T>A, XM_047436718.1:c.2540T>A, NP_077015.2:p.Leu848His, NP_001353314.1:p.Leu848His, XP_011523515.1:p.Leu848His, XP_011523520.1:p.Leu848His, XP_011523518.1:p.Leu848His, XP_047292675.1:p.Leu848His, XP_047292673.1:p.Leu848His, XP_047292671.1:p.Leu848His, XP_047292669.1:p.Leu848His, XP_047292670.1:p.Leu848His, XP_047292672.1:p.Leu848His, XP_047292674.1:p.Leu847His

                                16.

                                rs1478816553 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  17:80202261 (GRCh38)
                                  17:78176060 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:80202260:T:C
                                  Gene:
                                  SGSH (Varview), CARD14 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000049/2 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000017.11:g.80202261T>C, NC_000017.10:g.78176060T>C, NG_032778.1:g.37270T>C, NM_024110.4:c.2060T>C, NR_047566.2:n.2187T>C, NR_047566.1:n.2225T>C, NM_001366385.1:c.2060T>C, NM_001257970.1:c.2060T>C, NW_025791802.1:g.226967T>C, XM_011525213.2:c.2060T>C, XM_011525213.1:c.2060T>C, XM_011525218.2:c.2060T>C, XM_011525218.1:c.2060T>C, XM_011525216.2:c.2060T>C, XM_011525216.1:c.2060T>C, XR_007065415.1:n.5015A>G, XR_007065423.1:n.4925A>G, XR_007065417.1:n.4889A>G, XR_007065418.1:n.4482A>G, XR_007065404.1:n.4384A>G, XR_007065422.1:n.3840A>G, XM_047436719.1:c.2060T>C, XR_007065420.1:n.3714A>G, XR_007065419.1:n.3307A>G, XR_007065407.1:n.3209A>G, XM_047436717.1:c.2060T>C, XM_047436715.1:c.2060T>C, XM_047436713.1:c.2060T>C, XM_047436714.1:c.2060T>C, XM_047436716.1:c.2060T>C, XM_047436718.1:c.2057T>C, XM_047436720.1:c.2060T>C, XM_047436721.1:c.2060T>C, XM_047436722.1:c.1933T>C, XR_007065409.1:n.3998A>G, XR_007069550.1:n.4367A>G, XR_007069555.1:n.4241A>G, XR_007069556.1:n.3834A>G, XR_007069552.1:n.3736A>G, XR_007069564.1:n.3192A>G, XR_007069561.1:n.3066A>G, XR_007069566.1:n.2719A>G, XR_007069558.1:n.2659A>G, XR_007069554.1:n.2561A>G, NP_077015.2:p.Met687Thr, NP_001353314.1:p.Met687Thr, NP_001244899.1:p.Met687Thr, XP_011523515.1:p.Met687Thr, XP_011523520.1:p.Met687Thr, XP_011523518.1:p.Met687Thr, XP_047292675.1:p.Met687Thr, XP_047292673.1:p.Met687Thr, XP_047292671.1:p.Met687Thr, XP_047292669.1:p.Met687Thr, XP_047292670.1:p.Met687Thr, XP_047292672.1:p.Met687Thr, XP_047292674.1:p.Met686Thr, XP_047292676.1:p.Met687Thr, XP_047292677.1:p.Met687Thr, XP_047292678.1:p.Trp645Arg

                                  17.

                                  rs1477919599 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    C>- [Show Flanks]
                                    Chromosome:
                                    17:80184137 (GRCh38)
                                    17:78157936 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:80184136:C:
                                    Gene:
                                    CARD14 (Varview)
                                    Functional Consequence:
                                    stop_gained,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    -=0.000006/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000017.11:g.80184137del, NC_000017.10:g.78157936del, NG_032778.1:g.19146del, NM_024110.4:c.574del, NR_047566.2:n.769del, NR_047566.1:n.807del, NM_001366385.1:c.574del, NM_001257970.1:c.574del, NW_025791802.1:g.208843del, XM_011525213.2:c.574del, XM_011525213.1:c.574del, XM_011525218.2:c.574del, XM_011525218.1:c.574del, XM_011525216.2:c.574del, XM_011525216.1:c.574del, XM_047436719.1:c.574del, XM_047436717.1:c.574del, XM_047436715.1:c.574del, XM_047436713.1:c.574del, XM_047436714.1:c.574del, XM_047436716.1:c.574del, XM_047436718.1:c.574del, XM_047436720.1:c.574del, XM_047436721.1:c.574del, XM_047436722.1:c.574del, XM_047436723.1:c.574del, NP_077015.2:p.Val191_Leu192insTer, NP_001353314.1:p.Val191_Leu192insTer, NP_001244899.1:p.Val191_Leu192insTer, XP_011523515.1:p.Val191_Leu192insTer, XP_011523520.1:p.Val191_Leu192insTer, XP_011523518.1:p.Val191_Leu192insTer, XP_047292675.1:p.Val191_Leu192insTer, XP_047292673.1:p.Val191_Leu192insTer, XP_047292671.1:p.Val191_Leu192insTer, XP_047292669.1:p.Val191_Leu192insTer, XP_047292670.1:p.Val191_Leu192insTer, XP_047292672.1:p.Val191_Leu192insTer, XP_047292674.1:p.Val191_Leu192insTer, XP_047292676.1:p.Val191_Leu192insTer, XP_047292677.1:p.Val191_Leu192insTer, XP_047292678.1:p.Val191_Leu192insTer, XP_047292679.1:p.Val191_Leu192insTer

                                    18.

                                    rs1477395895 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      17:80204339 (GRCh38)
                                      17:78178138 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:80204338:A:G
                                      Gene:
                                      SGSH (Varview), CARD14 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000017.11:g.80204339A>G, NC_000017.10:g.78178138A>G, NG_032778.1:g.39348A>G, NM_024110.4:c.2396A>G, NR_047566.2:n.2523A>G, NR_047566.1:n.2561A>G, NM_001366385.1:c.2396A>G, NW_025791802.1:g.229045A>G, XM_011525213.2:c.2396A>G, XM_011525213.1:c.2396A>G, XM_011525218.2:c.2396A>G, XM_011525218.1:c.2396A>G, XM_011525216.2:c.2396A>G, XM_011525216.1:c.2396A>G, XR_007065415.1:n.3038T>C, XR_007065423.1:n.2948T>C, XR_007065417.1:n.3038T>C, XR_007065409.1:n.2021T>C, XR_007065422.1:n.3038T>C, XM_047436719.1:c.2396A>G, XR_007065420.1:n.3038T>C, XR_007065414.1:n.3038T>C, XM_047436717.1:c.2396A>G, XR_007065405.1:n.3038T>C, XM_047436715.1:c.2396A>G, XM_047436713.1:c.2396A>G, XM_047436714.1:c.2396A>G, XM_047436716.1:c.2396A>G, XR_007065413.1:n.1931T>C, XM_047436720.1:c.2396A>G, XM_047436718.1:c.2393A>G, XR_007069550.1:n.2390T>C, XR_007069555.1:n.2390T>C, XR_007069564.1:n.2390T>C, XR_007069561.1:n.2390T>C, XR_007069567.1:n.2390T>C, XR_007069549.1:n.2390T>C, XR_007069559.1:n.2411T>C, XR_007069557.1:n.2390T>C, NP_077015.2:p.Glu799Gly, NP_001353314.1:p.Glu799Gly, XP_011523515.1:p.Glu799Gly, XP_011523520.1:p.Glu799Gly, XP_011523518.1:p.Glu799Gly, XP_047292675.1:p.Glu799Gly, XP_047292673.1:p.Glu799Gly, XP_047292671.1:p.Glu799Gly, XP_047292669.1:p.Glu799Gly, XP_047292670.1:p.Glu799Gly, XP_047292672.1:p.Glu799Gly, XP_047292676.1:p.Glu799Gly, XP_047292674.1:p.Glu798Gly

                                      19.

                                      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

                                        20.

                                        rs1475551813 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          17:80182787 (GRCh38)
                                          17:78156586 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:80182786:A:G
                                          Gene:
                                          CARD14 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                          HGVS:
                                          NC_000017.11:g.80182787A>G, NC_000017.10:g.78156586A>G, NG_032778.1:g.17796A>G, NM_024110.4:c.346A>G, NR_047566.2:n.541A>G, NR_047566.1:n.579A>G, NM_001366385.1:c.346A>G, NM_001257970.1:c.346A>G, NW_025791802.1:g.207493A>G, XM_011525213.2:c.346A>G, XM_011525213.1:c.346A>G, XM_011525218.2:c.346A>G, XM_011525218.1:c.346A>G, XM_011525216.2:c.346A>G, XM_011525216.1:c.346A>G, XM_047436719.1:c.346A>G, XM_047436717.1:c.346A>G, XM_047436715.1:c.346A>G, XM_047436713.1:c.346A>G, XM_047436714.1:c.346A>G, XM_047436716.1:c.346A>G, XM_047436718.1:c.346A>G, XM_047436720.1:c.346A>G, XM_047436721.1:c.346A>G, XM_047436722.1:c.346A>G, XM_047436723.1:c.346A>G, NP_077015.2:p.Ser116Gly, NP_001353314.1:p.Ser116Gly, NP_001244899.1:p.Ser116Gly, XP_011523515.1:p.Ser116Gly, XP_011523520.1:p.Ser116Gly, XP_011523518.1:p.Ser116Gly, XP_047292675.1:p.Ser116Gly, XP_047292673.1:p.Ser116Gly, XP_047292671.1:p.Ser116Gly, XP_047292669.1:p.Ser116Gly, XP_047292670.1:p.Ser116Gly, XP_047292672.1:p.Ser116Gly, XP_047292674.1:p.Ser116Gly, XP_047292676.1:p.Ser116Gly, XP_047292677.1:p.Ser116Gly, XP_047292678.1:p.Ser116Gly, XP_047292679.1:p.Ser116Gly

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