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Items: 1 to 20 of 738

1.

rs1490608852 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    7:29195312 (GRCh38)
    7:29234928 (GRCh37)
    Canonical SPDI:
    NC_000007.14:29195311:G:C
    Gene:
    CHN2 (Varview), CPVL (Varview)
    Functional Consequence:
    upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000007/1 (GnomAD)
    HGVS:

    2.

    rs1490436048 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      7:29181339 (GRCh38)
      7:29220955 (GRCh37)
      Canonical SPDI:
      NC_000007.14:29181338:C:T
      Gene:
      CHN2 (Varview), CPVL (Varview)
      Functional Consequence:
      5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:

      3.

      rs1490147673 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        7:29066085 (GRCh38)
        7:29105701 (GRCh37)
        Canonical SPDI:
        NC_000007.14:29066084:C:G
        Gene:
        CPVL (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000007.14:g.29066085C>G, NC_000007.13:g.29105701C>G, NM_031311.5:c.901G>C, NM_031311.4:c.901G>C, NM_031311.3:c.901G>C, NM_019029.3:c.901G>C, NM_019029.2:c.901G>C, XM_011515437.2:c.901G>C, XM_011515437.1:c.901G>C, NM_001371255.1:c.901G>C, NM_001371265.1:c.691G>C, NM_001371257.1:c.901G>C, NM_001371266.1:c.691G>C, NM_001371267.1:c.691G>C, NM_001371256.1:c.901G>C, NM_001371260.1:c.901G>C, NM_001371264.1:c.943G>C, NM_001371263.1:c.901G>C, NM_001371258.1:c.901G>C, NM_001371262.1:c.901G>C, NM_001371261.1:c.901G>C, NM_001348052.1:c.901G>C, XM_047420530.1:c.901G>C, NM_001348054.1:c.901G>C, NP_112601.3:p.Asp301His, NP_061902.2:p.Asp301His, XP_011513739.1:p.Asp301His, NP_001358184.1:p.Asp301His, NP_001358194.1:p.Asp231His, NP_001358186.1:p.Asp301His, NP_001358195.1:p.Asp231His, NP_001358196.1:p.Asp231His, NP_001358185.1:p.Asp301His, NP_001358189.1:p.Asp301His, NP_001358193.1:p.Asp315His, NP_001358192.1:p.Asp301His, NP_001358187.1:p.Asp301His, NP_001358191.1:p.Asp301His, NP_001358190.1:p.Asp301His, NP_001334981.1:p.Asp301His, XP_047276486.1:p.Asp301His, NP_001334983.1:p.Asp301His

        4.

        rs1489796055 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          7:29121014 (GRCh38)
          7:29160630 (GRCh37)
          Canonical SPDI:
          NC_000007.14:29121013:C:A
          Gene:
          CPVL (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,5_prime_UTR_variant
          HGVS:
          NC_000007.14:g.29121014C>A, NC_000007.13:g.29160630C>A, NM_031311.5:c.48G>T, NM_031311.4:c.48G>T, NM_031311.3:c.48G>T, NM_019029.3:c.48G>T, NM_019029.2:c.48G>T, XM_011515437.2:c.48G>T, XM_011515437.1:c.48G>T, XM_017012366.2:c.48G>T, XM_017012366.1:c.48G>T, NM_001371255.1:c.48G>T, NM_001371265.1:c.-439G>T, NM_001371257.1:c.48G>T, NM_001371266.1:c.-307G>T, NM_001371267.1:c.-280G>T, NM_001371256.1:c.48G>T, NM_001371260.1:c.48G>T, NM_001371264.1:c.48G>T, NM_001371263.1:c.48G>T, NM_001371258.1:c.48G>T, NM_001371262.1:c.48G>T, NM_001371261.1:c.48G>T, NM_001348052.1:c.48G>T, XM_047420530.1:c.48G>T, XM_047420531.1:c.48G>T, NM_001348054.1:c.48G>T, NM_001371268.1:c.-14G>T, NP_112601.3:p.Met16Ile, NP_061902.2:p.Met16Ile, XP_011513739.1:p.Met16Ile, XP_016867855.1:p.Met16Ile, NP_001358184.1:p.Met16Ile, NP_001358186.1:p.Met16Ile, NP_001358185.1:p.Met16Ile, NP_001358189.1:p.Met16Ile, NP_001358193.1:p.Met16Ile, NP_001358192.1:p.Met16Ile, NP_001358187.1:p.Met16Ile, NP_001358191.1:p.Met16Ile, NP_001358190.1:p.Met16Ile, NP_001334981.1:p.Met16Ile, XP_047276486.1:p.Met16Ile, XP_047276487.1:p.Met16Ile, NP_001334983.1:p.Met16Ile

          5.

          rs1489531315 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            7:28995831 (GRCh38)
            7:29035447 (GRCh37)
            Canonical SPDI:
            NC_000007.14:28995830:C:T
            Gene:
            CPVL (Varview), CPVL-AS2 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            T=0.000004/1 (TOPMED)
            T=0.000035/1 (TOMMO)
            HGVS:
            NC_000007.14:g.28995831C>T, NC_000007.13:g.29035447C>T, NM_031311.5:c.1372G>A, NM_031311.4:c.1372G>A, NM_031311.3:c.1372G>A, NM_019029.3:c.1372G>A, NM_019029.2:c.1372G>A, XM_011515437.2:c.1372G>A, XM_011515437.1:c.1372G>A, XM_017012366.2:c.1099G>A, XM_017012366.1:c.1099G>A, NM_001371255.1:c.1372G>A, NM_001371265.1:c.1162G>A, NM_001371257.1:c.1372G>A, NM_001371266.1:c.1162G>A, NM_001371267.1:c.1162G>A, NM_001371256.1:c.1372G>A, NM_001371260.1:c.1372G>A, NM_001371264.1:c.1414G>A, NM_001371263.1:c.1372G>A, NM_001371258.1:c.1372G>A, NM_001371262.1:c.1372G>A, NM_001371261.1:c.1372G>A, NM_001348052.1:c.1372G>A, XM_047420530.1:c.1372G>A, XM_047420531.1:c.1099G>A, NM_001348054.1:c.1372G>A, NM_001371268.1:c.838G>A, NP_112601.3:p.Ala458Thr, NP_061902.2:p.Ala458Thr, XP_011513739.1:p.Ala458Thr, XP_016867855.1:p.Ala367Thr, NP_001358184.1:p.Ala458Thr, NP_001358194.1:p.Ala388Thr, NP_001358186.1:p.Ala458Thr, NP_001358195.1:p.Ala388Thr, NP_001358196.1:p.Ala388Thr, NP_001358185.1:p.Ala458Thr, NP_001358189.1:p.Ala458Thr, NP_001358193.1:p.Ala472Thr, NP_001358192.1:p.Ala458Thr, NP_001358187.1:p.Ala458Thr, NP_001358191.1:p.Ala458Thr, NP_001358190.1:p.Ala458Thr, NP_001334981.1:p.Ala458Thr, XP_047276486.1:p.Ala458Thr, XP_047276487.1:p.Ala367Thr, NP_001334983.1:p.Ala458Thr, NP_001358197.1:p.Ala280Thr

            6.

            rs1489392192 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              7:28995592 (GRCh38)
              7:29035208 (GRCh37)
              Canonical SPDI:
              NC_000007.14:28995591:T:A
              Gene:
              CPVL (Varview), CPVL-AS2 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000015/4 (TOPMED)
              T=0.5/1 (SGDP_PRJ)
              HGVS:

              7.

              rs1489312590 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                7:29195268 (GRCh38)
                7:29234884 (GRCh37)
                Canonical SPDI:
                NC_000007.14:29195267:G:C
                Gene:
                CHN2 (Varview), CPVL (Varview)
                Functional Consequence:
                upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency
                MAF:
                C=0.000014/2 (GnomAD)
                HGVS:

                8.

                rs1487305020 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G [Show Flanks]
                  Chromosome:
                  7:29071794 (GRCh38)
                  7:29111410 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:29071793:C:A,NC_000007.14:29071793:C:G
                  Gene:
                  CPVL (Varview)
                  Functional Consequence:
                  intron_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000071/1 (ALFA)
                  A=0.000008/2 (GnomAD_exomes)
                  G=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000007.14:g.29071794C>A, NC_000007.14:g.29071794C>G, NC_000007.13:g.29111410C>A, NC_000007.13:g.29111410C>G, NM_031311.5:c.843G>T, NM_031311.5:c.843G>C, NM_031311.4:c.843G>T, NM_031311.4:c.843G>C, NM_031311.3:c.843G>T, NM_031311.3:c.843G>C, NM_019029.3:c.843G>T, NM_019029.3:c.843G>C, NM_019029.2:c.843G>T, NM_019029.2:c.843G>C, XM_011515437.2:c.843G>T, XM_011515437.2:c.843G>C, XM_011515437.1:c.843G>T, XM_011515437.1:c.843G>C, XM_017012366.2:c.843G>T, XM_017012366.2:c.843G>C, XM_017012366.1:c.843G>T, XM_017012366.1:c.843G>C, NM_001371255.1:c.843G>T, NM_001371255.1:c.843G>C, NM_001371265.1:c.633G>T, NM_001371265.1:c.633G>C, NM_001371257.1:c.843G>T, NM_001371257.1:c.843G>C, NM_001371266.1:c.633G>T, NM_001371266.1:c.633G>C, NM_001371267.1:c.633G>T, NM_001371267.1:c.633G>C, NM_001371256.1:c.843G>T, NM_001371256.1:c.843G>C, NM_001371260.1:c.843G>T, NM_001371260.1:c.843G>C, NM_001371264.1:c.885G>T, NM_001371264.1:c.885G>C, NM_001371263.1:c.843G>T, NM_001371263.1:c.843G>C, NM_001371258.1:c.843G>T, NM_001371258.1:c.843G>C, NM_001371262.1:c.843G>T, NM_001371262.1:c.843G>C, NM_001371261.1:c.843G>T, NM_001371261.1:c.843G>C, NM_001348052.1:c.843G>T, NM_001348052.1:c.843G>C, XM_047420530.1:c.843G>T, XM_047420530.1:c.843G>C, XM_047420531.1:c.843G>T, XM_047420531.1:c.843G>C, NM_001348054.1:c.843G>T, NM_001348054.1:c.843G>C, NP_112601.3:p.Gln281His, NP_112601.3:p.Gln281His, NP_061902.2:p.Gln281His, NP_061902.2:p.Gln281His, XP_011513739.1:p.Gln281His, XP_011513739.1:p.Gln281His, XP_016867855.1:p.Gln281His, XP_016867855.1:p.Gln281His, NP_001358184.1:p.Gln281His, NP_001358184.1:p.Gln281His, NP_001358194.1:p.Gln211His, NP_001358194.1:p.Gln211His, NP_001358186.1:p.Gln281His, NP_001358186.1:p.Gln281His, NP_001358195.1:p.Gln211His, NP_001358195.1:p.Gln211His, NP_001358196.1:p.Gln211His, NP_001358196.1:p.Gln211His, NP_001358185.1:p.Gln281His, NP_001358185.1:p.Gln281His, NP_001358189.1:p.Gln281His, NP_001358189.1:p.Gln281His, NP_001358193.1:p.Gln295His, NP_001358193.1:p.Gln295His, NP_001358192.1:p.Gln281His, NP_001358192.1:p.Gln281His, NP_001358187.1:p.Gln281His, NP_001358187.1:p.Gln281His, NP_001358191.1:p.Gln281His, NP_001358191.1:p.Gln281His, NP_001358190.1:p.Gln281His, NP_001358190.1:p.Gln281His, NP_001334981.1:p.Gln281His, NP_001334981.1:p.Gln281His, XP_047276486.1:p.Gln281His, XP_047276486.1:p.Gln281His, XP_047276487.1:p.Gln281His, XP_047276487.1:p.Gln281His, NP_001334983.1:p.Gln281His, NP_001334983.1:p.Gln281His

                  9.

                  rs1484956032 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    7:28995487 (GRCh38)
                    7:29035103 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:28995486:A:G
                    Gene:
                    CPVL (Varview), CPVL-AS2 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000021/3 (GnomAD)
                    HGVS:

                    10.

                    rs1484814351 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->TTAA [Show Flanks]
                      Chromosome:
                      7:28995468 (GRCh38)
                      7:29035085 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:28995468:AATTAA:AATTAATTAA
                      Gene:
                      CPVL (Varview), CPVL-AS2 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      AATTAATTAA=0./0 (ALFA)
                      AATT=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1483606451 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        7:29195264 (GRCh38)
                        7:29234880 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:29195263:A:G
                        Gene:
                        CHN2 (Varview), CPVL (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1479442102 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          7:29120963 (GRCh38)
                          7:29160579 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:29120962:C:T
                          Gene:
                          CPVL (Varview)
                          Functional Consequence:
                          missense_variant,5_prime_UTR_variant,coding_sequence_variant
                          HGVS:
                          NC_000007.14:g.29120963C>T, NC_000007.13:g.29160579C>T, NM_031311.5:c.99G>A, NM_031311.4:c.99G>A, NM_031311.3:c.99G>A, NM_019029.3:c.99G>A, NM_019029.2:c.99G>A, XM_011515437.2:c.99G>A, XM_011515437.1:c.99G>A, XM_017012366.2:c.99G>A, XM_017012366.1:c.99G>A, NM_001371255.1:c.99G>A, NM_001371265.1:c.-388G>A, NM_001371257.1:c.99G>A, NM_001371266.1:c.-256G>A, NM_001371267.1:c.-229G>A, NM_001371256.1:c.99G>A, NM_001371260.1:c.99G>A, NM_001371264.1:c.99G>A, NM_001371263.1:c.99G>A, NM_001371258.1:c.99G>A, NM_001371262.1:c.99G>A, NM_001371261.1:c.99G>A, NM_001348052.1:c.99G>A, XM_047420530.1:c.99G>A, XM_047420531.1:c.99G>A, NM_001348054.1:c.99G>A, NM_001371268.1:c.38G>A, NP_112601.3:p.Met33Ile, NP_061902.2:p.Met33Ile, XP_011513739.1:p.Met33Ile, XP_016867855.1:p.Met33Ile, NP_001358184.1:p.Met33Ile, NP_001358186.1:p.Met33Ile, NP_001358185.1:p.Met33Ile, NP_001358189.1:p.Met33Ile, NP_001358193.1:p.Met33Ile, NP_001358192.1:p.Met33Ile, NP_001358187.1:p.Met33Ile, NP_001358191.1:p.Met33Ile, NP_001358190.1:p.Met33Ile, NP_001334981.1:p.Met33Ile, XP_047276486.1:p.Met33Ile, XP_047276487.1:p.Met33Ile, NP_001334983.1:p.Met33Ile, NP_001358197.1:p.Cys13Tyr

                          13.

                          rs1479003219 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            7:29095128 (GRCh38)
                            7:29134744 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:29095127:A:T
                            Gene:
                            CPVL (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            HGVS:
                            NC_000007.14:g.29095128A>T, NC_000007.13:g.29134744A>T, NM_031311.5:c.418T>A, NM_031311.4:c.418T>A, NM_031311.3:c.418T>A, NM_019029.3:c.418T>A, NM_019029.2:c.418T>A, XM_011515437.2:c.418T>A, XM_011515437.1:c.418T>A, XM_017012366.2:c.418T>A, XM_017012366.1:c.418T>A, NM_001371255.1:c.418T>A, NM_001371265.1:c.208T>A, NM_001371257.1:c.418T>A, NM_001371266.1:c.208T>A, NM_001371267.1:c.208T>A, NM_001371256.1:c.418T>A, NM_001371260.1:c.418T>A, NM_001371264.1:c.418T>A, NM_001371263.1:c.418T>A, NM_001371258.1:c.418T>A, NM_001371262.1:c.418T>A, NM_001371261.1:c.418T>A, NM_001348052.1:c.418T>A, XM_047420530.1:c.418T>A, XM_047420531.1:c.418T>A, NM_001348054.1:c.418T>A, NM_001371268.1:c.238T>A, NP_112601.3:p.Phe140Ile, NP_061902.2:p.Phe140Ile, XP_011513739.1:p.Phe140Ile, XP_016867855.1:p.Phe140Ile, NP_001358184.1:p.Phe140Ile, NP_001358194.1:p.Phe70Ile, NP_001358186.1:p.Phe140Ile, NP_001358195.1:p.Phe70Ile, NP_001358196.1:p.Phe70Ile, NP_001358185.1:p.Phe140Ile, NP_001358189.1:p.Phe140Ile, NP_001358193.1:p.Phe140Ile, NP_001358192.1:p.Phe140Ile, NP_001358187.1:p.Phe140Ile, NP_001358191.1:p.Phe140Ile, NP_001358190.1:p.Phe140Ile, NP_001334981.1:p.Phe140Ile, XP_047276486.1:p.Phe140Ile, XP_047276487.1:p.Phe140Ile, NP_001334983.1:p.Phe140Ile, NP_001358197.1:p.Phe80Ile

                            14.

                            rs1478291196 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              7:29195104 (GRCh38)
                              7:29234720 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:29195103:A:C
                              Gene:
                              CHN2 (Varview), CPVL (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:

                              15.

                              rs1478021705 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                GTTGGC>- [Show Flanks]
                                Chromosome:
                                7:29030738 (GRCh38)
                                7:29070354 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:29030737:GTTGGC:
                                Gene:
                                CPVL (Varview)
                                Functional Consequence:
                                inframe_indel,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                -=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000007.14:g.29030738_29030743del, NC_000007.13:g.29070354_29070359del, NM_031311.5:c.1154_1159del, NM_031311.4:c.1154_1159del, NM_031311.3:c.1154_1159del, NM_019029.3:c.1154_1159del, NM_019029.2:c.1154_1159del, XM_011515437.2:c.1154_1159del, XM_011515437.1:c.1154_1159del, XM_017012366.2:c.881_886del, XM_017012366.1:c.881_886del, NM_001371255.1:c.1154_1159del, NM_001371265.1:c.944_949del, NM_001371257.1:c.1154_1159del, NM_001371266.1:c.944_949del, NM_001371267.1:c.944_949del, NM_001371256.1:c.1154_1159del, NM_001371260.1:c.1154_1159del, NM_001371264.1:c.1196_1201del, NM_001371263.1:c.1154_1159del, NM_001371258.1:c.1154_1159del, NM_001371262.1:c.1154_1159del, NM_001371261.1:c.1154_1159del, NM_001348052.1:c.1154_1159del, XM_047420530.1:c.1154_1159del, XM_047420531.1:c.881_886del, NM_001348054.1:c.1154_1159del, NM_001371268.1:c.620_625del, NP_112601.3:p.Gly385_Leu387delinsVal, NP_061902.2:p.Gly385_Leu387delinsVal, XP_011513739.1:p.Gly385_Leu387delinsVal, XP_016867855.1:p.Gly294_Leu296delinsVal, NP_001358184.1:p.Gly385_Leu387delinsVal, NP_001358194.1:p.Gly315_Leu317delinsVal, NP_001358186.1:p.Gly385_Leu387delinsVal, NP_001358195.1:p.Gly315_Leu317delinsVal, NP_001358196.1:p.Gly315_Leu317delinsVal, NP_001358185.1:p.Gly385_Leu387delinsVal, NP_001358189.1:p.Gly385_Leu387delinsVal, NP_001358193.1:p.Gly399_Leu401delinsVal, NP_001358192.1:p.Gly385_Leu387delinsVal, NP_001358187.1:p.Gly385_Leu387delinsVal, NP_001358191.1:p.Gly385_Leu387delinsVal, NP_001358190.1:p.Gly385_Leu387delinsVal, NP_001334981.1:p.Gly385_Leu387delinsVal, XP_047276486.1:p.Gly385_Leu387delinsVal, XP_047276487.1:p.Gly294_Leu296delinsVal, NP_001334983.1:p.Gly385_Leu387delinsVal, NP_001358197.1:p.Gly207_Leu209delinsVal

                                16.

                                rs1477353346 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  G>- [Show Flanks]
                                  Chromosome:
                                  7:29071808 (GRCh38)
                                  7:29111424 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:29071807:G:
                                  Gene:
                                  CPVL (Varview)
                                  Functional Consequence:
                                  frameshift_variant,intron_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  -=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000007.14:g.29071808del, NC_000007.13:g.29111424del, NM_031311.5:c.829del, NM_031311.4:c.829del, NM_031311.3:c.829del, NM_019029.3:c.829del, NM_019029.2:c.829del, XM_011515437.2:c.829del, XM_011515437.1:c.829del, XM_017012366.2:c.829del, XM_017012366.1:c.829del, NM_001371255.1:c.829del, NM_001371265.1:c.619del, NM_001371257.1:c.829del, NM_001371266.1:c.619del, NM_001371267.1:c.619del, NM_001371256.1:c.829del, NM_001371260.1:c.829del, NM_001371264.1:c.871del, NM_001371263.1:c.829del, NM_001371258.1:c.829del, NM_001371262.1:c.829del, NM_001371261.1:c.829del, NM_001348052.1:c.829del, XM_047420530.1:c.829del, XM_047420531.1:c.829del, NM_001348054.1:c.829del, NP_112601.3:p.His277fs, NP_061902.2:p.His277fs, XP_011513739.1:p.His277fs, XP_016867855.1:p.His277fs, NP_001358184.1:p.His277fs, NP_001358194.1:p.His207fs, NP_001358186.1:p.His277fs, NP_001358195.1:p.His207fs, NP_001358196.1:p.His207fs, NP_001358185.1:p.His277fs, NP_001358189.1:p.His277fs, NP_001358193.1:p.His291fs, NP_001358192.1:p.His277fs, NP_001358187.1:p.His277fs, NP_001358191.1:p.His277fs, NP_001358190.1:p.His277fs, NP_001334981.1:p.His277fs, XP_047276486.1:p.His277fs, XP_047276487.1:p.His277fs, NP_001334983.1:p.His277fs

                                  17.

                                  rs1476982335 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    7:28995845 (GRCh38)
                                    7:29035461 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:28995844:T:C
                                    Gene:
                                    CPVL (Varview), CPVL-AS2 (Varview)
                                    Functional Consequence:
                                    intron_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000007.14:g.28995845T>C, NC_000007.13:g.29035461T>C, NM_031311.5:c.1358A>G, NM_031311.4:c.1358A>G, NM_031311.3:c.1358A>G, NM_019029.3:c.1358A>G, NM_019029.2:c.1358A>G, XM_011515437.2:c.1358A>G, XM_011515437.1:c.1358A>G, XM_017012366.2:c.1085A>G, XM_017012366.1:c.1085A>G, NM_001371255.1:c.1358A>G, NM_001371265.1:c.1148A>G, NM_001371257.1:c.1358A>G, NM_001371266.1:c.1148A>G, NM_001371267.1:c.1148A>G, NM_001371256.1:c.1358A>G, NM_001371260.1:c.1358A>G, NM_001371264.1:c.1400A>G, NM_001371263.1:c.1358A>G, NM_001371258.1:c.1358A>G, NM_001371262.1:c.1358A>G, NM_001371261.1:c.1358A>G, NM_001348052.1:c.1358A>G, XM_047420530.1:c.1358A>G, XM_047420531.1:c.1085A>G, NM_001348054.1:c.1358A>G, NM_001371268.1:c.824A>G, NP_112601.3:p.Asp453Gly, NP_061902.2:p.Asp453Gly, XP_011513739.1:p.Asp453Gly, XP_016867855.1:p.Asp362Gly, NP_001358184.1:p.Asp453Gly, NP_001358194.1:p.Asp383Gly, NP_001358186.1:p.Asp453Gly, NP_001358195.1:p.Asp383Gly, NP_001358196.1:p.Asp383Gly, NP_001358185.1:p.Asp453Gly, NP_001358189.1:p.Asp453Gly, NP_001358193.1:p.Asp467Gly, NP_001358192.1:p.Asp453Gly, NP_001358187.1:p.Asp453Gly, NP_001358191.1:p.Asp453Gly, NP_001358190.1:p.Asp453Gly, NP_001334981.1:p.Asp453Gly, XP_047276486.1:p.Asp453Gly, XP_047276487.1:p.Asp362Gly, NP_001334983.1:p.Asp453Gly, NP_001358197.1:p.Asp275Gly

                                    18.

                                    rs1476699809 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      7:29064180 (GRCh38)
                                      7:29103796 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:29064179:G:T
                                      Gene:
                                      CPVL (Varview)
                                      Functional Consequence:
                                      intron_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000007.14:g.29064180G>T, NC_000007.13:g.29103796G>T, NM_031311.5:c.1018C>A, NM_031311.4:c.1018C>A, NM_031311.3:c.1018C>A, NM_019029.3:c.1018C>A, NM_019029.2:c.1018C>A, XM_011515437.2:c.1018C>A, XM_011515437.1:c.1018C>A, NM_001371255.1:c.1018C>A, NM_001371265.1:c.808C>A, NM_001371257.1:c.1018C>A, NM_001371266.1:c.808C>A, NM_001371267.1:c.808C>A, NM_001371256.1:c.1018C>A, NM_001371260.1:c.1018C>A, NM_001371264.1:c.1060C>A, NM_001371263.1:c.1018C>A, NM_001371258.1:c.1018C>A, NM_001371262.1:c.1018C>A, NM_001371261.1:c.1018C>A, NM_001348052.1:c.1018C>A, XM_047420530.1:c.1018C>A, NM_001348054.1:c.1018C>A, NM_001371268.1:c.484C>A, NP_112601.3:p.Gln340Lys, NP_061902.2:p.Gln340Lys, XP_011513739.1:p.Gln340Lys, NP_001358184.1:p.Gln340Lys, NP_001358194.1:p.Gln270Lys, NP_001358186.1:p.Gln340Lys, NP_001358195.1:p.Gln270Lys, NP_001358196.1:p.Gln270Lys, NP_001358185.1:p.Gln340Lys, NP_001358189.1:p.Gln340Lys, NP_001358193.1:p.Gln354Lys, NP_001358192.1:p.Gln340Lys, NP_001358187.1:p.Gln340Lys, NP_001358191.1:p.Gln340Lys, NP_001358190.1:p.Gln340Lys, NP_001334981.1:p.Gln340Lys, XP_047276486.1:p.Gln340Lys, NP_001334983.1:p.Gln340Lys, NP_001358197.1:p.Gln162Lys

                                      19.

                                      rs1473244214 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        7:28995814 (GRCh38)
                                        7:29035430 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:28995813:A:G
                                        Gene:
                                        CPVL (Varview), CPVL-AS2 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1471862190 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          7:29120974 (GRCh38)
                                          7:29160590 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:29120973:T:C
                                          Gene:
                                          CPVL (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,synonymous_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_000007.14:g.29120974T>C, NC_000007.13:g.29160590T>C, NM_031311.5:c.88A>G, NM_031311.4:c.88A>G, NM_031311.3:c.88A>G, NM_019029.3:c.88A>G, NM_019029.2:c.88A>G, XM_011515437.2:c.88A>G, XM_011515437.1:c.88A>G, XM_017012366.2:c.88A>G, XM_017012366.1:c.88A>G, NM_001371255.1:c.88A>G, NM_001371265.1:c.-399A>G, NM_001371257.1:c.88A>G, NM_001371266.1:c.-267A>G, NM_001371267.1:c.-240A>G, NM_001371256.1:c.88A>G, NM_001371260.1:c.88A>G, NM_001371264.1:c.88A>G, NM_001371263.1:c.88A>G, NM_001371258.1:c.88A>G, NM_001371262.1:c.88A>G, NM_001371261.1:c.88A>G, NM_001348052.1:c.88A>G, XM_047420530.1:c.88A>G, XM_047420531.1:c.88A>G, NM_001348054.1:c.88A>G, NM_001371268.1:c.27A>G, NP_112601.3:p.Ser30Gly, NP_061902.2:p.Ser30Gly, XP_011513739.1:p.Ser30Gly, XP_016867855.1:p.Ser30Gly, NP_001358184.1:p.Ser30Gly, NP_001358186.1:p.Ser30Gly, NP_001358185.1:p.Ser30Gly, NP_001358189.1:p.Ser30Gly, NP_001358193.1:p.Ser30Gly, NP_001358192.1:p.Ser30Gly, NP_001358187.1:p.Ser30Gly, NP_001358191.1:p.Ser30Gly, NP_001358190.1:p.Ser30Gly, NP_001334981.1:p.Ser30Gly, XP_047276486.1:p.Ser30Gly, XP_047276487.1:p.Ser30Gly, NP_001334983.1:p.Ser30Gly

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