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Links from Protein

Items: 1 to 20 of 190

2.

rs1465996063 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    19:50909402 (GRCh38)
    19:51412658 (GRCh37)
    Canonical SPDI:
    NC_000019.10:50909401:G:C
    Gene:
    KLK4 (Varview)
    Functional Consequence:
    intron_variant,5_prime_UTR_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:
    3.

    rs1460832405 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->CCTCGCCGTTTATGATTTGGCTGCAGC [Show Flanks]
      Chromosome:
      19:50909369 (GRCh38)
      19:51412626 (GRCh37)
      Canonical SPDI:
      NC_000019.10:50909369:CCTCGCCGTTTATGATTTGGCTGCAGC:CCTCGCCGTTTATGATTTGGCTGCAGCCCTCGCCGTTTATGATTTGGCTGCAGC
      Gene:
      KLK4 (Varview)
      Functional Consequence:
      splice_acceptor_variant,coding_sequence_variant,non_coding_transcript_variant,inframe_insertion,5_prime_UTR_variant
      Validated:
      by frequency,by cluster
      MAF:
      CCTCGCCGTTTATGATTTGGCTGCAGC=0.000004/1 (GnomAD_exomes)
      CCTCGCCGTTTATGATTTGGCTGCAGC=0.000007/1 (GnomAD)
      HGVS:
      4.

      rs1456077560 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        19:50910725 (GRCh38)
        19:51413981 (GRCh37)
        Canonical SPDI:
        NC_000019.10:50910724:C:A
        Gene:
        KLK4 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000021/3 (GnomAD)
        A=0.000042/11 (TOPMED)
        HGVS:
        5.

        rs1446790497 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          19:50910716 (GRCh38)
          19:51413972 (GRCh37)
          Canonical SPDI:
          NC_000019.10:50910715:C:G
          Gene:
          KLK4 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
          HGVS:
          6.

          rs1443747828 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            19:50909314 (GRCh38)
            19:51412570 (GRCh37)
            Canonical SPDI:
            NC_000019.10:50909313:C:T
            Gene:
            KLK4 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            7.

            rs1443144222 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              19:50908709 (GRCh38)
              19:51411965 (GRCh37)
              Canonical SPDI:
              NC_000019.10:50908708:G:A
              Gene:
              KLK4 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              8.

              rs1439228102 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->G [Show Flanks]
                Chromosome:
                19:50909291 (GRCh38)
                19:51412548 (GRCh37)
                Canonical SPDI:
                NC_000019.10:50909291:G:GG
                Gene:
                KLK4 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,frameshift_variant
                Validated:
                by frequency,by alfa
                MAF:
                GG=0./0 (ALFA)
                G=0.000008/2 (GnomAD_exomes)
                HGVS:
                9.

                rs1437908996 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  19:50908670 (GRCh38)
                  19:51411926 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:50908669:C:T
                  Gene:
                  KLK4 (Varview)
                  Functional Consequence:
                  synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  T=0.000035/1 (TOMMO)
                  HGVS:
                  10.

                  rs1428360570 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    19:50908788 (GRCh38)
                    19:51412044 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:50908787:T:C
                    Gene:
                    KLK4 (Varview)
                    Functional Consequence:
                    missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    11.

                    rs1426898340 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      19:50908622 (GRCh38)
                      19:51411878 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:50908621:C:T
                      Gene:
                      KLK4 (Varview)
                      Functional Consequence:
                      synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      12.

                      rs1423964190 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        19:50909281 (GRCh38)
                        19:51412537 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:50909280:C:T
                        Gene:
                        KLK4 (Varview)
                        Functional Consequence:
                        stop_gained,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.0003/2 (ALFA)
                        HGVS:
                        13.
                        14.

                        rs1419137125 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          19:50909382 (GRCh38)
                          19:51412638 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:50909381:T:C
                          Gene:
                          KLK4 (Varview)
                          Functional Consequence:
                          missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.00011/1 (ALFA)
                          C=0.00004/1 (TOMMO)
                          HGVS:
                          15.

                          rs1411834293 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            C>- [Show Flanks]
                            Chromosome:
                            19:50909325 (GRCh38)
                            19:51412581 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:50909324:CC:C
                            Gene:
                            KLK4 (Varview)
                            Functional Consequence:
                            frameshift_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            CC=0./0 (ALFA)
                            -=0.000004/1 (GnomAD_exomes)
                            -=0.000007/1 (GnomAD)
                            -=0.000011/3 (TOPMED)
                            HGVS:
                            16.

                            rs1408853068 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              19:50908800 (GRCh38)
                              19:51412056 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:50908799:C:T
                              Gene:
                              KLK4 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              17.

                              rs1403710201 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                19:50908738 (GRCh38)
                                19:51411994 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:50908737:G:A
                                Gene:
                                KLK4 (Varview)
                                Functional Consequence:
                                missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                18.

                                rs1402733512 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  19:50908587 (GRCh38)
                                  19:51411843 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:50908586:A:G
                                  Gene:
                                  KLK4 (Varview)
                                  Functional Consequence:
                                  missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  20.

                                  rs1362525119 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    19:50908632 (GRCh38)
                                    19:51411888 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:50908631:C:G
                                    Gene:
                                    KLK4 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:

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