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Links from Nucleotide

Items: 1 to 20 of 1948

1.

rs1490910538 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    GCCTCCAAG>-
    Chromosome:
    no mapping
    Canonical SPDI:
    2.

    rs1490865799 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      9:84876983 (GRCh38)
      9:87491898 (GRCh37)
      Canonical SPDI:
      NC_000009.12:84876982:T:A
      Gene:
      NTRK2 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490840675 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        GG>- [Show Flanks]
        Chromosome:
        9:84875825 (GRCh38)
        9:87490740 (GRCh37)
        Canonical SPDI:
        NC_000009.12:84875824:GG:
        Gene:
        NTRK2 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        -=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490374488 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          9:84877425 (GRCh38)
          9:87492340 (GRCh37)
          Canonical SPDI:
          NC_000009.12:84877424:G:A,NC_000009.12:84877424:G:C
          Gene:
          NTRK2 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          HGVS:
          5.

          rs1490092891 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            9:84874405 (GRCh38)
            9:87489320 (GRCh37)
            Canonical SPDI:
            NC_000009.12:84874404:T:A
            Gene:
            NTRK2 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1489708937 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              9:84873483 (GRCh38)
              9:87488398 (GRCh37)
              Canonical SPDI:
              NC_000009.12:84873482:T:G
              Gene:
              NTRK2 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
              Validated:
              by frequency
              MAF:
              G=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1489559304 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                9:84707870 (GRCh38)
                9:87322785 (GRCh37)
                Canonical SPDI:
                NC_000009.12:84707869:G:C
                Gene:
                NTRK2 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,5_prime_UTR_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000009.12:g.84707870G>C, NC_000009.11:g.87322785G>C, NG_012201.2:g.44320G>C, NM_006180.6:c.386G>C, NM_006180.5:c.386G>C, NM_006180.4:c.386G>C, NM_006180.3:c.386G>C, NM_001018066.3:c.386G>C, NM_001018066.2:c.386G>C, NM_001018064.3:c.386G>C, NM_001018064.2:c.386G>C, NM_001018064.1:c.386G>C, NM_001007097.3:c.386G>C, NM_001007097.2:c.386G>C, NM_001007097.1:c.386G>C, NM_001018065.2:c.386G>C, NM_001291937.2:c.386G>C, NM_001291937.1:c.386G>C, NM_001369532.1:c.386G>C, NM_001369533.1:c.386G>C, NM_001369534.1:c.386G>C, NM_001369537.1:c.386G>C, NM_001369538.1:c.386G>C, NM_001369536.1:c.-83G>C, NM_001369535.1:c.-83G>C, NM_001369544.1:c.386G>C, NM_001369543.1:c.386G>C, NM_001369541.1:c.386G>C, NM_001369542.1:c.386G>C, NM_001369545.1:c.386G>C, NM_001369539.1:c.386G>C, NM_001369548.1:c.386G>C, NM_001369547.1:c.386G>C, NM_001369540.1:c.386G>C, NM_001369546.1:c.386G>C, NM_001369549.1:c.386G>C, NM_001369552.1:c.-83G>C, NM_001369551.1:c.-83G>C, NM_001369550.1:c.-83G>C, XM_005252001.4:c.386G>C, XM_005252001.3:c.386G>C, XM_005252001.2:c.386G>C, XM_005252001.1:c.386G>C, XM_005252003.4:c.386G>C, XM_005252003.3:c.386G>C, XM_005252003.2:c.386G>C, XM_005252003.1:c.386G>C, XM_011518718.4:c.386G>C, XM_011518718.3:c.386G>C, XM_011518718.2:c.386G>C, XM_011518718.1:c.386G>C, XM_017014751.3:c.386G>C, XM_017014751.2:c.386G>C, XM_017014751.1:c.386G>C, XM_017014753.3:c.386G>C, XM_017014753.2:c.386G>C, XM_017014753.1:c.386G>C, XM_005252004.3:c.386G>C, XM_005252004.2:c.386G>C, XM_005252004.1:c.386G>C, XM_017014760.3:c.386G>C, XM_017014760.2:c.386G>C, XM_017014760.1:c.386G>C, XM_017014752.2:c.386G>C, XM_017014752.1:c.386G>C, XM_047423432.1:c.386G>C, XM_047423433.1:c.386G>C, XM_017014755.1:c.386G>C, NM_001381928.1:c.386G>C, NP_006171.2:p.Ser129Thr, NP_001018076.1:p.Ser129Thr, NP_001018074.1:p.Ser129Thr, NP_001007098.1:p.Ser129Thr, NP_001018075.1:p.Ser129Thr, NP_001278866.1:p.Ser129Thr, NP_001356461.1:p.Ser129Thr, NP_001356462.1:p.Ser129Thr, NP_001356463.1:p.Ser129Thr, NP_001356466.1:p.Ser129Thr, NP_001356467.1:p.Ser129Thr, NP_001356473.1:p.Ser129Thr, NP_001356472.1:p.Ser129Thr, NP_001356470.1:p.Ser129Thr, NP_001356471.1:p.Ser129Thr, NP_001356474.1:p.Ser129Thr, NP_001356468.1:p.Ser129Thr, NP_001356477.1:p.Ser129Thr, NP_001356476.1:p.Ser129Thr, NP_001356469.1:p.Ser129Thr, NP_001356475.1:p.Ser129Thr, NP_001356478.1:p.Ser129Thr, XP_005252058.1:p.Ser129Thr, XP_005252060.1:p.Ser129Thr, XP_011517020.1:p.Ser129Thr, XP_016870240.1:p.Ser129Thr, XP_016870242.1:p.Ser129Thr, XP_005252061.1:p.Ser129Thr, XP_016870249.1:p.Ser129Thr, XP_016870241.1:p.Ser129Thr, XP_047279388.1:p.Ser129Thr, XP_047279389.1:p.Ser129Thr, XP_016870244.1:p.Ser129Thr
                8.

                rs1489487403 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  9:84727807 (GRCh38)
                  9:87342722 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:84727806:T:A
                  Gene:
                  NTRK2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0.000111/1 (ALFA)
                  A=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  NC_000009.12:g.84727807T>A, NC_000009.11:g.87342722T>A, NG_012201.2:g.64257T>A, NM_006180.6:c.1007T>A, NM_006180.5:c.1007T>A, NM_006180.4:c.1007T>A, NM_006180.3:c.1007T>A, NM_001018066.3:c.1007T>A, NM_001018066.2:c.1007T>A, NM_001018064.3:c.1007T>A, NM_001018064.2:c.1007T>A, NM_001018064.1:c.1007T>A, NM_001007097.3:c.1007T>A, NM_001007097.2:c.1007T>A, NM_001007097.1:c.1007T>A, NM_001018065.2:c.1007T>A, NM_001291937.2:c.968T>A, NM_001291937.1:c.968T>A, NM_001369532.1:c.1007T>A, NM_001369533.1:c.1007T>A, NM_001369534.1:c.1007T>A, NM_001369537.1:c.1007T>A, NM_001369538.1:c.1007T>A, NM_001369536.1:c.539T>A, NM_001369535.1:c.539T>A, NM_001369544.1:c.1007T>A, NM_001369543.1:c.1007T>A, NM_001369541.1:c.1007T>A, NM_001369542.1:c.1007T>A, NM_001369545.1:c.1007T>A, NM_001369539.1:c.1007T>A, NM_001369548.1:c.1007T>A, NM_001369547.1:c.1007T>A, NM_001369540.1:c.1007T>A, NM_001369546.1:c.968T>A, NM_001369549.1:c.1007T>A, NM_001369552.1:c.539T>A, NM_001369551.1:c.539T>A, NM_001369550.1:c.539T>A, XM_005252001.4:c.1007T>A, XM_005252001.3:c.1007T>A, XM_005252001.2:c.1007T>A, XM_005252001.1:c.1007T>A, XM_005252003.4:c.1007T>A, XM_005252003.3:c.1007T>A, XM_005252003.2:c.1007T>A, XM_005252003.1:c.1007T>A, XM_011518718.4:c.1007T>A, XM_011518718.3:c.1007T>A, XM_011518718.2:c.1007T>A, XM_011518718.1:c.1007T>A, XM_017014751.3:c.1007T>A, XM_017014751.2:c.1007T>A, XM_017014751.1:c.1007T>A, XM_017014753.3:c.1007T>A, XM_017014753.2:c.1007T>A, XM_017014753.1:c.1007T>A, XM_005252004.3:c.1007T>A, XM_005252004.2:c.1007T>A, XM_005252004.1:c.1007T>A, XM_017014760.3:c.1007T>A, XM_017014760.2:c.1007T>A, XM_017014760.1:c.1007T>A, XM_017014752.2:c.1007T>A, XM_017014752.1:c.1007T>A, XM_047423432.1:c.1007T>A, XM_047423433.1:c.1007T>A, XM_017014755.1:c.1007T>A, NM_001381928.1:c.1007T>A, NP_006171.2:p.Val336Asp, NP_001018076.1:p.Val336Asp, NP_001018074.1:p.Val336Asp, NP_001007098.1:p.Val336Asp, NP_001018075.1:p.Val336Asp, NP_001278866.1:p.Val323Asp, NP_001356461.1:p.Val336Asp, NP_001356462.1:p.Val336Asp, NP_001356463.1:p.Val336Asp, NP_001356466.1:p.Val336Asp, NP_001356467.1:p.Val336Asp, NP_001356465.1:p.Val180Asp, NP_001356464.1:p.Val180Asp, NP_001356473.1:p.Val336Asp, NP_001356472.1:p.Val336Asp, NP_001356470.1:p.Val336Asp, NP_001356471.1:p.Val336Asp, NP_001356474.1:p.Val336Asp, NP_001356468.1:p.Val336Asp, NP_001356477.1:p.Val336Asp, NP_001356476.1:p.Val336Asp, NP_001356469.1:p.Val336Asp, NP_001356475.1:p.Val323Asp, NP_001356478.1:p.Val336Asp, NP_001356481.1:p.Val180Asp, NP_001356480.1:p.Val180Asp, NP_001356479.1:p.Val180Asp, XP_005252058.1:p.Val336Asp, XP_005252060.1:p.Val336Asp, XP_011517020.1:p.Val336Asp, XP_016870240.1:p.Val336Asp, XP_016870242.1:p.Val336Asp, XP_005252061.1:p.Val336Asp, XP_016870249.1:p.Val336Asp, XP_016870241.1:p.Val336Asp, XP_047279388.1:p.Val336Asp, XP_047279389.1:p.Val336Asp, XP_016870244.1:p.Val336Asp
                  9.

                  rs1488777547 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,G [Show Flanks]
                    Chromosome:
                    9:84874654 (GRCh38)
                    9:87489569 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:84874653:A:C,NC_000009.12:84874653:A:G
                    Gene:
                    NTRK2 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1488641699 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G,T [Show Flanks]
                      Chromosome:
                      9:84876321 (GRCh38)
                      9:87491236 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:84876320:A:G,NC_000009.12:84876320:A:T
                      Gene:
                      NTRK2 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000014/2 (GnomAD)
                      T=0.000019/5 (TOPMED)
                      HGVS:
                      11.

                      rs1487995169 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        9:84670737 (GRCh38)
                        9:87285652 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:84670736:T:C
                        Gene:
                        NTRK2 (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000009.12:g.84670737T>C, NC_000009.11:g.87285652T>C, NG_012201.2:g.7187T>C, NM_006180.6:c.-12T>C, NM_006180.5:c.-12T>C, NM_006180.4:c.-12T>C, NM_006180.3:c.-12T>C, NM_001018066.3:c.-12T>C, NM_001018066.2:c.-12T>C, NM_001018064.3:c.-12T>C, NM_001018064.2:c.-12T>C, NM_001018064.1:c.-12T>C, NM_001007097.3:c.-12T>C, NM_001007097.2:c.-12T>C, NM_001007097.1:c.-12T>C, NM_001018065.2:c.-12T>C, NM_001291937.2:c.-12T>C, NM_001291937.1:c.-12T>C, NM_001369532.1:c.-12T>C, NM_001369533.1:c.-12T>C, NM_001369534.1:c.-12T>C, NM_001369537.1:c.-12T>C, NM_001369538.1:c.-12T>C, NM_001369544.1:c.-12T>C, NM_001369543.1:c.-12T>C, NM_001369541.1:c.-12T>C, NM_001369542.1:c.-12T>C, NM_001369545.1:c.-12T>C, NM_001369539.1:c.-12T>C, NM_001369548.1:c.-12T>C, NM_001369547.1:c.-12T>C, NM_001369540.1:c.-12T>C, NM_001369546.1:c.-12T>C, NM_001369549.1:c.-12T>C, XM_005252001.4:c.-12T>C, XM_005252001.3:c.-12T>C, XM_005252001.2:c.-12T>C, XM_005252001.1:c.-12T>C, XM_005252003.4:c.-12T>C, XM_005252003.3:c.-12T>C, XM_005252003.2:c.-12T>C, XM_005252003.1:c.-12T>C, XM_011518718.4:c.-12T>C, XM_011518718.3:c.-12T>C, XM_011518718.2:c.-12T>C, XM_011518718.1:c.-12T>C, XM_017014751.3:c.-12T>C, XM_017014751.2:c.-12T>C, XM_017014751.1:c.-12T>C, XM_017014753.3:c.-12T>C, XM_017014753.2:c.-12T>C, XM_017014753.1:c.-12T>C, XM_005252004.3:c.-12T>C, XM_005252004.2:c.-12T>C, XM_005252004.1:c.-12T>C, XM_017014760.3:c.-12T>C, XM_017014760.2:c.-12T>C, XM_017014760.1:c.-12T>C, XM_017014752.2:c.-12T>C, XM_017014752.1:c.-12T>C, XM_047423432.1:c.-12T>C, XM_047423433.1:c.-12T>C, XM_017014755.1:c.-12T>C, NM_001381928.1:c.-12T>C
                        12.

                        rs1487569944 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          9:84875793 (GRCh38)
                          9:87490708 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:84875792:C:A
                          Gene:
                          NTRK2 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1487008553 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            9:84702194 (GRCh38)
                            9:87317109 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:84702193:A:G
                            Gene:
                            NTRK2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_upstream_transcript_variant,missense_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)
                            G=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000009.12:g.84702194A>G, NC_000009.11:g.87317109A>G, NG_012201.2:g.38644A>G, NM_006180.6:c.248A>G, NM_006180.5:c.248A>G, NM_006180.4:c.248A>G, NM_006180.3:c.248A>G, NM_001018066.3:c.248A>G, NM_001018066.2:c.248A>G, NM_001018064.3:c.248A>G, NM_001018064.2:c.248A>G, NM_001018064.1:c.248A>G, NM_001007097.3:c.248A>G, NM_001007097.2:c.248A>G, NM_001007097.1:c.248A>G, NM_001018065.2:c.248A>G, NM_001291937.2:c.248A>G, NM_001291937.1:c.248A>G, NM_001369532.1:c.248A>G, NM_001369533.1:c.248A>G, NM_001369534.1:c.248A>G, NM_001369537.1:c.248A>G, NM_001369538.1:c.248A>G, NM_001369536.1:c.-221A>G, NM_001369535.1:c.-221A>G, NM_001369544.1:c.248A>G, NM_001369543.1:c.248A>G, NM_001369541.1:c.248A>G, NM_001369542.1:c.248A>G, NM_001369545.1:c.248A>G, NM_001369539.1:c.248A>G, NM_001369548.1:c.248A>G, NM_001369547.1:c.248A>G, NM_001369540.1:c.248A>G, NM_001369546.1:c.248A>G, NM_001369549.1:c.248A>G, NM_001369551.1:c.-221A>G, NM_001369550.1:c.-221A>G, XM_005252001.4:c.248A>G, XM_005252001.3:c.248A>G, XM_005252001.2:c.248A>G, XM_005252001.1:c.248A>G, XM_005252003.4:c.248A>G, XM_005252003.3:c.248A>G, XM_005252003.2:c.248A>G, XM_005252003.1:c.248A>G, XM_011518718.4:c.248A>G, XM_011518718.3:c.248A>G, XM_011518718.2:c.248A>G, XM_011518718.1:c.248A>G, XM_017014751.3:c.248A>G, XM_017014751.2:c.248A>G, XM_017014751.1:c.248A>G, XM_017014753.3:c.248A>G, XM_017014753.2:c.248A>G, XM_017014753.1:c.248A>G, XM_005252004.3:c.248A>G, XM_005252004.2:c.248A>G, XM_005252004.1:c.248A>G, XM_017014760.3:c.248A>G, XM_017014760.2:c.248A>G, XM_017014760.1:c.248A>G, XM_017014752.2:c.248A>G, XM_017014752.1:c.248A>G, XM_047423432.1:c.248A>G, XM_047423433.1:c.248A>G, XM_017014755.1:c.248A>G, NM_001381928.1:c.248A>G, NP_006171.2:p.Asn83Ser, NP_001018076.1:p.Asn83Ser, NP_001018074.1:p.Asn83Ser, NP_001007098.1:p.Asn83Ser, NP_001018075.1:p.Asn83Ser, NP_001278866.1:p.Asn83Ser, NP_001356461.1:p.Asn83Ser, NP_001356462.1:p.Asn83Ser, NP_001356463.1:p.Asn83Ser, NP_001356466.1:p.Asn83Ser, NP_001356467.1:p.Asn83Ser, NP_001356473.1:p.Asn83Ser, NP_001356472.1:p.Asn83Ser, NP_001356470.1:p.Asn83Ser, NP_001356471.1:p.Asn83Ser, NP_001356474.1:p.Asn83Ser, NP_001356468.1:p.Asn83Ser, NP_001356477.1:p.Asn83Ser, NP_001356476.1:p.Asn83Ser, NP_001356469.1:p.Asn83Ser, NP_001356475.1:p.Asn83Ser, NP_001356478.1:p.Asn83Ser, XP_005252058.1:p.Asn83Ser, XP_005252060.1:p.Asn83Ser, XP_011517020.1:p.Asn83Ser, XP_016870240.1:p.Asn83Ser, XP_016870242.1:p.Asn83Ser, XP_005252061.1:p.Asn83Ser, XP_016870249.1:p.Asn83Ser, XP_016870241.1:p.Asn83Ser, XP_047279388.1:p.Asn83Ser, XP_047279389.1:p.Asn83Ser, XP_016870244.1:p.Asn83Ser
                            14.

                            rs1486909172 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              9:84872206 (GRCh38)
                              9:87487121 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:84872205:T:G
                              Gene:
                              NTRK2 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1485623247 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A,C [Show Flanks]
                                Chromosome:
                                9:84873671 (GRCh38)
                                9:87488586 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:84873670:T:A,NC_000009.12:84873670:T:C
                                Gene:
                                NTRK2 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1485591888 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  9:84670477 (GRCh38)
                                  9:87285392 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:84670476:T:C
                                  Gene:
                                  NTRK2 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000071/1 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000009.12:g.84670477T>C, NC_000009.11:g.87285392T>C, NG_012201.2:g.6927T>C, NM_006180.6:c.-272T>C, NM_006180.5:c.-272T>C, NM_006180.4:c.-272T>C, NM_006180.3:c.-272T>C, NM_001018066.3:c.-272T>C, NM_001018066.2:c.-272T>C, NM_001018064.3:c.-272T>C, NM_001018064.2:c.-272T>C, NM_001018064.1:c.-272T>C, NM_001007097.3:c.-272T>C, NM_001007097.2:c.-272T>C, NM_001007097.1:c.-272T>C, NM_001018065.2:c.-272T>C, NM_001291937.2:c.-272T>C, NM_001291937.1:c.-272T>C, NM_001369532.1:c.-272T>C, NM_001369533.1:c.-272T>C, NM_001369534.1:c.-272T>C, NM_001369537.1:c.-272T>C, NM_001369538.1:c.-272T>C, NM_001369544.1:c.-272T>C, NM_001369543.1:c.-272T>C, NM_001369541.1:c.-272T>C, NM_001369542.1:c.-272T>C, NM_001369545.1:c.-272T>C, NM_001369539.1:c.-272T>C, NM_001369548.1:c.-272T>C, NM_001369547.1:c.-272T>C, NM_001369540.1:c.-272T>C, NM_001369546.1:c.-272T>C, NM_001369549.1:c.-272T>C, XM_005252001.4:c.-272T>C, XM_005252001.3:c.-272T>C, XM_005252001.2:c.-272T>C, XM_005252001.1:c.-272T>C, XM_005252003.4:c.-272T>C, XM_005252003.3:c.-272T>C, XM_005252003.2:c.-272T>C, XM_005252003.1:c.-272T>C, XM_011518718.4:c.-272T>C, XM_011518718.3:c.-272T>C, XM_011518718.2:c.-272T>C, XM_011518718.1:c.-272T>C, XM_017014751.3:c.-272T>C, XM_017014751.2:c.-272T>C, XM_017014751.1:c.-272T>C, XM_017014753.3:c.-272T>C, XM_017014753.2:c.-272T>C, XM_017014753.1:c.-272T>C, XM_005252004.3:c.-272T>C, XM_005252004.2:c.-272T>C, XM_005252004.1:c.-272T>C, XM_017014760.3:c.-272T>C, XM_017014760.2:c.-272T>C, XM_017014760.1:c.-272T>C, XM_017014752.2:c.-272T>C, XM_017014752.1:c.-272T>C, XM_047423432.1:c.-272T>C, XM_047423433.1:c.-272T>C, XM_017014755.1:c.-272T>C, NM_001381928.1:c.-272T>C
                                  17.

                                  rs1484027057 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    9:84670629 (GRCh38)
                                    9:87285544 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:84670628:G:C
                                    Gene:
                                    NTRK2 (Varview)
                                    Functional Consequence:
                                    5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                    HGVS:
                                    NC_000009.12:g.84670629G>C, NC_000009.11:g.87285544G>C, NG_012201.2:g.7079G>C, NM_006180.6:c.-120G>C, NM_006180.5:c.-120G>C, NM_006180.4:c.-120G>C, NM_006180.3:c.-120G>C, NM_001018066.3:c.-120G>C, NM_001018066.2:c.-120G>C, NM_001018064.3:c.-120G>C, NM_001018064.2:c.-120G>C, NM_001018064.1:c.-120G>C, NM_001007097.3:c.-120G>C, NM_001007097.2:c.-120G>C, NM_001007097.1:c.-120G>C, NM_001018065.2:c.-120G>C, NM_001291937.2:c.-120G>C, NM_001291937.1:c.-120G>C, NM_001369532.1:c.-120G>C, NM_001369533.1:c.-120G>C, NM_001369534.1:c.-120G>C, NM_001369537.1:c.-120G>C, NM_001369538.1:c.-120G>C, NM_001369544.1:c.-120G>C, NM_001369543.1:c.-120G>C, NM_001369541.1:c.-120G>C, NM_001369542.1:c.-120G>C, NM_001369545.1:c.-120G>C, NM_001369539.1:c.-120G>C, NM_001369548.1:c.-120G>C, NM_001369547.1:c.-120G>C, NM_001369540.1:c.-120G>C, NM_001369546.1:c.-120G>C, NM_001369549.1:c.-120G>C, XM_005252001.4:c.-120G>C, XM_005252001.3:c.-120G>C, XM_005252001.2:c.-120G>C, XM_005252001.1:c.-120G>C, XM_005252003.4:c.-120G>C, XM_005252003.3:c.-120G>C, XM_005252003.2:c.-120G>C, XM_005252003.1:c.-120G>C, XM_011518718.4:c.-120G>C, XM_011518718.3:c.-120G>C, XM_011518718.2:c.-120G>C, XM_011518718.1:c.-120G>C, XM_017014751.3:c.-120G>C, XM_017014751.2:c.-120G>C, XM_017014751.1:c.-120G>C, XM_017014753.3:c.-120G>C, XM_017014753.2:c.-120G>C, XM_017014753.1:c.-120G>C, XM_005252004.3:c.-120G>C, XM_005252004.2:c.-120G>C, XM_005252004.1:c.-120G>C, XM_017014760.3:c.-120G>C, XM_017014760.2:c.-120G>C, XM_017014760.1:c.-120G>C, XM_017014752.2:c.-120G>C, XM_017014752.1:c.-120G>C, XM_047423432.1:c.-120G>C, XM_047423433.1:c.-120G>C, XM_017014755.1:c.-120G>C, NM_001381928.1:c.-120G>C
                                    18.

                                    rs1483827176 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C,T [Show Flanks]
                                      Chromosome:
                                      9:84669819 (GRCh38)
                                      9:87284734 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:84669818:G:C,NC_000009.12:84669818:G:T
                                      Gene:
                                      NTRK2 (Varview)
                                      Functional Consequence:
                                      5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000029/4 (GnomAD)
                                      HGVS:
                                      NC_000009.12:g.84669819G>C, NC_000009.12:g.84669819G>T, NC_000009.11:g.87284734G>C, NC_000009.11:g.87284734G>T, NG_012201.2:g.6269G>C, NG_012201.2:g.6269G>T, NM_006180.6:c.-442G>C, NM_006180.6:c.-442G>T, NM_006180.5:c.-442G>C, NM_006180.5:c.-442G>T, NM_006180.4:c.-442G>C, NM_006180.4:c.-442G>T, NM_006180.3:c.-442G>C, NM_006180.3:c.-442G>T, NM_001018066.3:c.-442G>C, NM_001018066.3:c.-442G>T, NM_001018066.2:c.-442G>C, NM_001018066.2:c.-442G>T, NM_001007097.3:c.-442G>C, NM_001007097.3:c.-442G>T, NM_001007097.2:c.-442G>C, NM_001007097.2:c.-442G>T, NM_001007097.1:c.-442G>C, NM_001007097.1:c.-442G>T, NM_001018065.2:c.-442G>C, NM_001018065.2:c.-442G>T, NM_001291937.2:c.-442G>C, NM_001291937.2:c.-442G>T, NM_001291937.1:c.-442G>C, NM_001291937.1:c.-442G>T, NM_001369532.1:c.-442G>C, NM_001369532.1:c.-442G>T, NM_001369534.1:c.-442G>C, NM_001369534.1:c.-442G>T, NM_001369544.1:c.-442G>C, NM_001369544.1:c.-442G>T, NM_001369543.1:c.-442G>C, NM_001369543.1:c.-442G>T, NM_001369541.1:c.-442G>C, NM_001369541.1:c.-442G>T, XM_017014751.3:c.-775G>C, XM_017014751.3:c.-775G>T, XM_017014751.2:c.-775G>C, XM_017014751.2:c.-775G>T, XM_017014751.1:c.-775G>C, XM_017014751.1:c.-775G>T, XM_017014753.3:c.-775G>C, XM_017014753.3:c.-775G>T, XM_017014753.2:c.-775G>C, XM_017014753.2:c.-775G>T, XM_017014753.1:c.-775G>C, XM_017014753.1:c.-775G>T, XM_017014760.3:c.-775G>C, XM_017014760.3:c.-775G>T, XM_017014760.2:c.-775G>C, XM_017014760.2:c.-775G>T, XM_017014760.1:c.-775G>C, XM_017014760.1:c.-775G>T, XM_017014752.2:c.-442G>C, XM_017014752.2:c.-442G>T, XM_017014752.1:c.-442G>C, XM_017014752.1:c.-442G>T, XM_047423432.1:c.-442G>C, XM_047423432.1:c.-442G>T, XM_047423433.1:c.-442G>C, XM_047423433.1:c.-442G>T, XM_017014755.1:c.-442G>C, XM_017014755.1:c.-442G>T, NM_001381928.1:c.-442G>C, NM_001381928.1:c.-442G>T, NM_001018064.1:c.-442G>C, NM_001018064.1:c.-442G>T
                                      19.

                                      rs1483195785 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        9:84876041 (GRCh38)
                                        9:87490956 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:84876040:C:T
                                        Gene:
                                        NTRK2 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000011/3 (TOPMED)
                                        T=0.000021/3 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1483153874 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          9:84877558 (GRCh38)
                                          9:87492473 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:84877557:C:A
                                          Gene:
                                          NTRK2 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000014/2 (GnomAD)
                                          A=0.000026/7 (TOPMED)
                                          HGVS:

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