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Items: 1 to 20 of 474

1.

rs1490692091 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    15:88136021 (GRCh38)
    15:88679252 (GRCh37)
    Canonical SPDI:
    NC_000015.10:88136020:T:C
    Gene:
    NTRK3 (Varview)
    Functional Consequence:
    missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,non_coding_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_000015.10:g.88136021T>C, NC_000015.9:g.88679252T>C, NG_029619.1:g.125711A>G, NM_001007156.3:c.785A>G, NM_001007156.2:c.785A>G, NM_001012338.2:c.785A>G, NM_001012338.3:c.785A>G, NM_001320135.2:c.491A>G, NM_001320135.1:c.491A>G, NM_001375813.1:c.785A>G, NM_001375814.1:c.785A>G, NM_001320134.1:c.785A>G, XM_006720548.5:c.785A>G, XM_006720548.4:c.785A>G, XM_006720548.3:c.785A>G, XM_006720548.2:c.785A>G, XM_006720548.1:c.785A>G, XM_006720545.5:c.785A>G, XM_006720545.4:c.785A>G, XM_006720545.3:c.785A>G, XM_006720545.2:c.785A>G, XM_006720545.1:c.785A>G, XM_006720549.5:c.785A>G, XM_006720549.4:c.785A>G, XM_006720549.3:c.785A>G, XM_006720549.2:c.785A>G, XM_006720549.1:c.785A>G, XM_006720550.5:c.785A>G, XM_006720550.4:c.785A>G, XM_006720550.3:c.785A>G, XM_006720550.2:c.785A>G, XM_006720550.1:c.785A>G, NM_002530.4:c.785A>G, NM_002530.3:c.785A>G, XM_011521638.4:c.785A>G, XM_011521638.3:c.785A>G, XM_011521638.2:c.785A>G, XM_011521638.1:c.785A>G, XM_017022254.3:c.785A>G, XM_017022254.2:c.785A>G, XM_017022254.1:c.785A>G, XM_017022245.3:c.491A>G, XM_017022245.2:c.491A>G, XM_017022245.1:c.491A>G, XM_017022244.3:c.491A>G, XM_017022244.2:c.491A>G, XM_017022244.1:c.491A>G, XR_001751292.3:n.811A>G, XR_001751292.2:n.1428A>G, XR_001751292.1:n.1400A>G, XM_017022242.3:c.785A>G, XM_017022242.2:c.785A>G, XM_017022242.1:c.785A>G, XM_017022250.3:c.785A>G, XM_017022250.2:c.785A>G, XM_017022250.1:c.785A>G, XR_001751293.3:n.811A>G, XR_001751293.2:n.1423A>G, XR_001751293.1:n.1400A>G, XM_017022240.2:c.785A>G, XM_017022240.1:c.785A>G, NM_001243101.2:c.785A>G, NM_001243101.1:c.785A>G, XM_017022241.2:c.599A>G, XM_017022241.1:c.599A>G, XM_017022243.2:c.491A>G, XM_017022243.1:c.491A>G, XM_024449934.2:c.785A>G, XM_024449934.1:c.785A>G, XR_002957645.2:n.811A>G, XR_002957645.1:n.1424A>G, XM_024449935.2:c.785A>G, XM_024449935.1:c.785A>G, NM_001375810.1:c.785A>G, NM_001375811.1:c.785A>G, NM_001375812.1:c.785A>G, XM_047432602.1:c.785A>G, XM_047432603.1:c.785A>G, NM_001007155.1:c.785A>G, XM_047432604.1:c.785A>G, NP_001007157.1:p.Asn262Ser, NP_001012338.1:p.Asn262Ser, NP_001307064.1:p.Asn164Ser, NP_001362742.1:p.Asn262Ser, NP_001362743.1:p.Asn262Ser, NP_001307063.1:p.Asn262Ser, XP_006720611.1:p.Asn262Ser, XP_006720608.1:p.Asn262Ser, XP_006720612.1:p.Asn262Ser, XP_006720613.1:p.Asn262Ser, NP_002521.2:p.Asn262Ser, XP_011519940.1:p.Asn262Ser, XP_016877743.1:p.Asn262Ser, XP_016877734.1:p.Asn164Ser, XP_016877733.1:p.Asn164Ser, XP_016877731.1:p.Asn262Ser, XP_016877739.1:p.Asn262Ser, XP_016877729.1:p.Asn262Ser, NP_001230030.1:p.Asn262Ser, XP_016877730.1:p.Asn200Ser, XP_016877732.1:p.Asn164Ser, XP_024305702.1:p.Asn262Ser, XP_024305703.1:p.Asn262Ser, NP_001362739.1:p.Asn262Ser, NP_001362740.1:p.Asn262Ser, NP_001362741.1:p.Asn262Ser, XP_047288558.1:p.Asn262Ser, XP_047288559.1:p.Asn262Ser, XP_047288560.1:p.Asn262Ser

    2.

    rs1489874218 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      15:88135372 (GRCh38)
      15:88678603 (GRCh37)
      Canonical SPDI:
      NC_000015.10:88135371:C:G,NC_000015.10:88135371:C:T
      Gene:
      NTRK3 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by cluster
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000015.10:g.88135372C>G, NC_000015.10:g.88135372C>T, NC_000015.9:g.88678603C>G, NC_000015.9:g.88678603C>T, NG_029619.1:g.126360G>C, NG_029619.1:g.126360G>A, NM_001007156.3:c.933G>C, NM_001007156.3:c.933G>A, NM_001007156.2:c.933G>C, NM_001007156.2:c.933G>A, NM_001012338.2:c.933G>C, NM_001012338.2:c.933G>A, NM_001012338.3:c.933G>C, NM_001012338.3:c.933G>A, NM_001320135.2:c.639G>C, NM_001320135.2:c.639G>A, NM_001320135.1:c.639G>C, NM_001320135.1:c.639G>A, NM_001375813.1:c.933G>C, NM_001375813.1:c.933G>A, NM_001375814.1:c.933G>C, NM_001375814.1:c.933G>A, NM_001320134.1:c.933G>C, NM_001320134.1:c.933G>A, XM_006720548.5:c.933G>C, XM_006720548.5:c.933G>A, XM_006720548.4:c.933G>C, XM_006720548.4:c.933G>A, XM_006720548.3:c.933G>C, XM_006720548.3:c.933G>A, XM_006720548.2:c.933G>C, XM_006720548.2:c.933G>A, XM_006720548.1:c.933G>C, XM_006720548.1:c.933G>A, XM_006720545.5:c.933G>C, XM_006720545.5:c.933G>A, XM_006720545.4:c.933G>C, XM_006720545.4:c.933G>A, XM_006720545.3:c.933G>C, XM_006720545.3:c.933G>A, XM_006720545.2:c.933G>C, XM_006720545.2:c.933G>A, XM_006720545.1:c.933G>C, XM_006720545.1:c.933G>A, XM_006720549.5:c.933G>C, XM_006720549.5:c.933G>A, XM_006720549.4:c.933G>C, XM_006720549.4:c.933G>A, XM_006720549.3:c.933G>C, XM_006720549.3:c.933G>A, XM_006720549.2:c.933G>C, XM_006720549.2:c.933G>A, XM_006720549.1:c.933G>C, XM_006720549.1:c.933G>A, XM_006720550.5:c.933G>C, XM_006720550.5:c.933G>A, XM_006720550.4:c.933G>C, XM_006720550.4:c.933G>A, XM_006720550.3:c.933G>C, XM_006720550.3:c.933G>A, XM_006720550.2:c.933G>C, XM_006720550.2:c.933G>A, XM_006720550.1:c.933G>C, XM_006720550.1:c.933G>A, NM_002530.4:c.933G>C, NM_002530.4:c.933G>A, NM_002530.3:c.933G>C, NM_002530.3:c.933G>A, XM_011521638.4:c.933G>C, XM_011521638.4:c.933G>A, XM_011521638.3:c.933G>C, XM_011521638.3:c.933G>A, XM_011521638.2:c.933G>C, XM_011521638.2:c.933G>A, XM_011521638.1:c.933G>C, XM_011521638.1:c.933G>A, XM_017022254.3:c.933G>C, XM_017022254.3:c.933G>A, XM_017022254.2:c.933G>C, XM_017022254.2:c.933G>A, XM_017022254.1:c.933G>C, XM_017022254.1:c.933G>A, XM_017022245.3:c.639G>C, XM_017022245.3:c.639G>A, XM_017022245.2:c.639G>C, XM_017022245.2:c.639G>A, XM_017022245.1:c.639G>C, XM_017022245.1:c.639G>A, XM_017022244.3:c.639G>C, XM_017022244.3:c.639G>A, XM_017022244.2:c.639G>C, XM_017022244.2:c.639G>A, XM_017022244.1:c.639G>C, XM_017022244.1:c.639G>A, XR_001751292.3:n.959G>C, XR_001751292.3:n.959G>A, XR_001751292.2:n.1576G>C, XR_001751292.2:n.1576G>A, XR_001751292.1:n.1548G>C, XR_001751292.1:n.1548G>A, XM_017022242.3:c.933G>C, XM_017022242.3:c.933G>A, XM_017022242.2:c.933G>C, XM_017022242.2:c.933G>A, XM_017022242.1:c.933G>C, XM_017022242.1:c.933G>A, XM_017022250.3:c.933G>C, XM_017022250.3:c.933G>A, XM_017022250.2:c.933G>C, XM_017022250.2:c.933G>A, XM_017022250.1:c.933G>C, XM_017022250.1:c.933G>A, XR_001751293.3:n.959G>C, XR_001751293.3:n.959G>A, XR_001751293.2:n.1571G>C, XR_001751293.2:n.1571G>A, XR_001751293.1:n.1548G>C, XR_001751293.1:n.1548G>A, XM_017022240.2:c.933G>C, XM_017022240.2:c.933G>A, XM_017022240.1:c.933G>C, XM_017022240.1:c.933G>A, NM_001243101.2:c.933G>C, NM_001243101.2:c.933G>A, NM_001243101.1:c.933G>C, NM_001243101.1:c.933G>A, XM_017022241.2:c.747G>C, XM_017022241.2:c.747G>A, XM_017022241.1:c.747G>C, XM_017022241.1:c.747G>A, XM_017022243.2:c.639G>C, XM_017022243.2:c.639G>A, XM_017022243.1:c.639G>C, XM_017022243.1:c.639G>A, XM_024449934.2:c.933G>C, XM_024449934.2:c.933G>A, XM_024449934.1:c.933G>C, XM_024449934.1:c.933G>A, XR_002957645.2:n.959G>C, XR_002957645.2:n.959G>A, XR_002957645.1:n.1572G>C, XR_002957645.1:n.1572G>A, XM_024449935.2:c.933G>C, XM_024449935.2:c.933G>A, XM_024449935.1:c.933G>C, XM_024449935.1:c.933G>A, NM_001375810.1:c.933G>C, NM_001375810.1:c.933G>A, NM_001375811.1:c.933G>C, NM_001375811.1:c.933G>A, NM_001375812.1:c.933G>C, NM_001375812.1:c.933G>A, XM_047432602.1:c.933G>C, XM_047432602.1:c.933G>A, XM_047432603.1:c.933G>C, XM_047432603.1:c.933G>A, NM_001007155.1:c.933G>C, NM_001007155.1:c.933G>A, XM_047432604.1:c.933G>C, XM_047432604.1:c.933G>A, NP_001007157.1:p.Glu311Asp, NP_001012338.1:p.Glu311Asp, NP_001307064.1:p.Glu213Asp, NP_001362742.1:p.Glu311Asp, NP_001362743.1:p.Glu311Asp, NP_001307063.1:p.Glu311Asp, XP_006720611.1:p.Glu311Asp, XP_006720608.1:p.Glu311Asp, XP_006720612.1:p.Glu311Asp, XP_006720613.1:p.Glu311Asp, NP_002521.2:p.Glu311Asp, XP_011519940.1:p.Glu311Asp, XP_016877743.1:p.Glu311Asp, XP_016877734.1:p.Glu213Asp, XP_016877733.1:p.Glu213Asp, XP_016877731.1:p.Glu311Asp, XP_016877739.1:p.Glu311Asp, XP_016877729.1:p.Glu311Asp, NP_001230030.1:p.Glu311Asp, XP_016877730.1:p.Glu249Asp, XP_016877732.1:p.Glu213Asp, XP_024305702.1:p.Glu311Asp, XP_024305703.1:p.Glu311Asp, NP_001362739.1:p.Glu311Asp, NP_001362740.1:p.Glu311Asp, NP_001362741.1:p.Glu311Asp, XP_047288558.1:p.Glu311Asp, XP_047288559.1:p.Glu311Asp, XP_047288560.1:p.Glu311Asp

      3.

      rs1489483779 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        15:88255966 (GRCh38)
        15:88799197 (GRCh37)
        Canonical SPDI:
        NC_000015.10:88255965:C:A
        Gene:
        NTRK3 (Varview), NTRK3-AS1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000015.10:g.88255966C>A, NC_000015.9:g.88799197C>A, NG_029619.1:g.5766G>T, NM_001007156.3:c.188G>T, NM_001007156.2:c.188G>T, NM_001012338.2:c.188G>T, NM_001012338.3:c.188G>T, NM_001375813.1:c.188G>T, NM_001375814.1:c.188G>T, NM_001320134.1:c.188G>T, XM_006720548.5:c.188G>T, XM_006720548.4:c.188G>T, XM_006720548.3:c.188G>T, XM_006720548.2:c.188G>T, XM_006720548.1:c.188G>T, XM_006720545.5:c.188G>T, XM_006720545.4:c.188G>T, XM_006720545.3:c.188G>T, XM_006720545.2:c.188G>T, XM_006720545.1:c.188G>T, XM_006720549.5:c.188G>T, XM_006720549.4:c.188G>T, XM_006720549.3:c.188G>T, XM_006720549.2:c.188G>T, XM_006720549.1:c.188G>T, XM_006720550.5:c.188G>T, XM_006720550.4:c.188G>T, XM_006720550.3:c.188G>T, XM_006720550.2:c.188G>T, XM_006720550.1:c.188G>T, NM_002530.4:c.188G>T, NM_002530.3:c.188G>T, XM_011521638.4:c.188G>T, XM_011521638.3:c.188G>T, XM_011521638.2:c.188G>T, XM_011521638.1:c.188G>T, XM_017022254.3:c.188G>T, XM_017022254.2:c.188G>T, XM_017022254.1:c.188G>T, XR_001751292.3:n.214G>T, XR_001751292.2:n.831G>T, XR_001751292.1:n.803G>T, XM_017022242.3:c.188G>T, XM_017022242.2:c.188G>T, XM_017022242.1:c.188G>T, XM_017022250.3:c.188G>T, XM_017022250.2:c.188G>T, XM_017022250.1:c.188G>T, XR_001751293.3:n.214G>T, XR_001751293.2:n.826G>T, XR_001751293.1:n.803G>T, XM_017022240.2:c.188G>T, XM_017022240.1:c.188G>T, NM_001243101.2:c.188G>T, NM_001243101.1:c.188G>T, XM_024449934.2:c.188G>T, XM_024449934.1:c.188G>T, XR_002957645.2:n.214G>T, XR_002957645.1:n.827G>T, XM_024449935.2:c.188G>T, XM_024449935.1:c.188G>T, NM_001375810.1:c.188G>T, NM_001375811.1:c.188G>T, NM_001375812.1:c.188G>T, XM_047432602.1:c.188G>T, XM_047432603.1:c.188G>T, NM_001007155.1:c.188G>T, XM_047432604.1:c.188G>T, NP_001007157.1:p.Gly63Val, NP_001012338.1:p.Gly63Val, NP_001362742.1:p.Gly63Val, NP_001362743.1:p.Gly63Val, NP_001307063.1:p.Gly63Val, XP_006720611.1:p.Gly63Val, XP_006720608.1:p.Gly63Val, XP_006720612.1:p.Gly63Val, XP_006720613.1:p.Gly63Val, NP_002521.2:p.Gly63Val, XP_011519940.1:p.Gly63Val, XP_016877743.1:p.Gly63Val, XP_016877731.1:p.Gly63Val, XP_016877739.1:p.Gly63Val, XP_016877729.1:p.Gly63Val, NP_001230030.1:p.Gly63Val, XP_024305702.1:p.Gly63Val, XP_024305703.1:p.Gly63Val, NP_001362739.1:p.Gly63Val, NP_001362740.1:p.Gly63Val, NP_001362741.1:p.Gly63Val, XP_047288558.1:p.Gly63Val, XP_047288559.1:p.Gly63Val, XP_047288560.1:p.Gly63Val

        4.

        rs1486240498 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          15:88136593 (GRCh38)
          15:88679824 (GRCh37)
          Canonical SPDI:
          NC_000015.10:88136592:G:A,NC_000015.10:88136592:G:C
          Gene:
          NTRK3 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000094/1 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000008/2 (GnomAD_exomes)
          HGVS:
          NC_000015.10:g.88136593G>A, NC_000015.10:g.88136593G>C, NC_000015.9:g.88679824G>A, NC_000015.9:g.88679824G>C, NG_029619.1:g.125139C>T, NG_029619.1:g.125139C>G, NM_001007156.3:c.639C>T, NM_001007156.3:c.639C>G, NM_001007156.2:c.639C>T, NM_001007156.2:c.639C>G, NM_001012338.2:c.639C>T, NM_001012338.2:c.639C>G, NM_001012338.3:c.639C>T, NM_001012338.3:c.639C>G, NM_001320135.2:c.345C>T, NM_001320135.2:c.345C>G, NM_001320135.1:c.345C>T, NM_001320135.1:c.345C>G, NM_001375813.1:c.639C>T, NM_001375813.1:c.639C>G, NM_001375814.1:c.639C>T, NM_001375814.1:c.639C>G, NM_001320134.1:c.639C>T, NM_001320134.1:c.639C>G, XM_006720548.5:c.639C>T, XM_006720548.5:c.639C>G, XM_006720548.4:c.639C>T, XM_006720548.4:c.639C>G, XM_006720548.3:c.639C>T, XM_006720548.3:c.639C>G, XM_006720548.2:c.639C>T, XM_006720548.2:c.639C>G, XM_006720548.1:c.639C>T, XM_006720548.1:c.639C>G, XM_006720545.5:c.639C>T, XM_006720545.5:c.639C>G, XM_006720545.4:c.639C>T, XM_006720545.4:c.639C>G, XM_006720545.3:c.639C>T, XM_006720545.3:c.639C>G, XM_006720545.2:c.639C>T, XM_006720545.2:c.639C>G, XM_006720545.1:c.639C>T, XM_006720545.1:c.639C>G, XM_006720549.5:c.639C>T, XM_006720549.5:c.639C>G, XM_006720549.4:c.639C>T, XM_006720549.4:c.639C>G, XM_006720549.3:c.639C>T, XM_006720549.3:c.639C>G, XM_006720549.2:c.639C>T, XM_006720549.2:c.639C>G, XM_006720549.1:c.639C>T, XM_006720549.1:c.639C>G, XM_006720550.5:c.639C>T, XM_006720550.5:c.639C>G, XM_006720550.4:c.639C>T, XM_006720550.4:c.639C>G, XM_006720550.3:c.639C>T, XM_006720550.3:c.639C>G, XM_006720550.2:c.639C>T, XM_006720550.2:c.639C>G, XM_006720550.1:c.639C>T, XM_006720550.1:c.639C>G, NM_002530.4:c.639C>T, NM_002530.4:c.639C>G, NM_002530.3:c.639C>T, NM_002530.3:c.639C>G, XM_011521638.4:c.639C>T, XM_011521638.4:c.639C>G, XM_011521638.3:c.639C>T, XM_011521638.3:c.639C>G, XM_011521638.2:c.639C>T, XM_011521638.2:c.639C>G, XM_011521638.1:c.639C>T, XM_011521638.1:c.639C>G, XM_017022254.3:c.639C>T, XM_017022254.3:c.639C>G, XM_017022254.2:c.639C>T, XM_017022254.2:c.639C>G, XM_017022254.1:c.639C>T, XM_017022254.1:c.639C>G, XM_017022245.3:c.345C>T, XM_017022245.3:c.345C>G, XM_017022245.2:c.345C>T, XM_017022245.2:c.345C>G, XM_017022245.1:c.345C>T, XM_017022245.1:c.345C>G, XM_017022244.3:c.345C>T, XM_017022244.3:c.345C>G, XM_017022244.2:c.345C>T, XM_017022244.2:c.345C>G, XM_017022244.1:c.345C>T, XM_017022244.1:c.345C>G, XR_001751292.3:n.665C>T, XR_001751292.3:n.665C>G, XR_001751292.2:n.1282C>T, XR_001751292.2:n.1282C>G, XR_001751292.1:n.1254C>T, XR_001751292.1:n.1254C>G, XM_017022242.3:c.639C>T, XM_017022242.3:c.639C>G, XM_017022242.2:c.639C>T, XM_017022242.2:c.639C>G, XM_017022242.1:c.639C>T, XM_017022242.1:c.639C>G, XM_017022250.3:c.639C>T, XM_017022250.3:c.639C>G, XM_017022250.2:c.639C>T, XM_017022250.2:c.639C>G, XM_017022250.1:c.639C>T, XM_017022250.1:c.639C>G, XR_001751293.3:n.665C>T, XR_001751293.3:n.665C>G, XR_001751293.2:n.1277C>T, XR_001751293.2:n.1277C>G, XR_001751293.1:n.1254C>T, XR_001751293.1:n.1254C>G, XM_017022240.2:c.639C>T, XM_017022240.2:c.639C>G, XM_017022240.1:c.639C>T, XM_017022240.1:c.639C>G, NM_001243101.2:c.639C>T, NM_001243101.2:c.639C>G, NM_001243101.1:c.639C>T, NM_001243101.1:c.639C>G, XM_017022241.2:c.453C>T, XM_017022241.2:c.453C>G, XM_017022241.1:c.453C>T, XM_017022241.1:c.453C>G, XM_017022243.2:c.345C>T, XM_017022243.2:c.345C>G, XM_017022243.1:c.345C>T, XM_017022243.1:c.345C>G, XM_024449934.2:c.639C>T, XM_024449934.2:c.639C>G, XM_024449934.1:c.639C>T, XM_024449934.1:c.639C>G, XR_002957645.2:n.665C>T, XR_002957645.2:n.665C>G, XR_002957645.1:n.1278C>T, XR_002957645.1:n.1278C>G, XM_024449935.2:c.639C>T, XM_024449935.2:c.639C>G, XM_024449935.1:c.639C>T, XM_024449935.1:c.639C>G, NM_001375810.1:c.639C>T, NM_001375810.1:c.639C>G, NM_001375811.1:c.639C>T, NM_001375811.1:c.639C>G, NM_001375812.1:c.639C>T, NM_001375812.1:c.639C>G, XM_047432602.1:c.639C>T, XM_047432602.1:c.639C>G, XM_047432603.1:c.639C>T, XM_047432603.1:c.639C>G, NM_001007155.1:c.639C>T, NM_001007155.1:c.639C>G, XM_047432604.1:c.639C>T, XM_047432604.1:c.639C>G, NP_001007157.1:p.Ser213Arg, NP_001012338.1:p.Ser213Arg, NP_001307064.1:p.Ser115Arg, NP_001362742.1:p.Ser213Arg, NP_001362743.1:p.Ser213Arg, NP_001307063.1:p.Ser213Arg, XP_006720611.1:p.Ser213Arg, XP_006720608.1:p.Ser213Arg, XP_006720612.1:p.Ser213Arg, XP_006720613.1:p.Ser213Arg, NP_002521.2:p.Ser213Arg, XP_011519940.1:p.Ser213Arg, XP_016877743.1:p.Ser213Arg, XP_016877734.1:p.Ser115Arg, XP_016877733.1:p.Ser115Arg, XP_016877731.1:p.Ser213Arg, XP_016877739.1:p.Ser213Arg, XP_016877729.1:p.Ser213Arg, NP_001230030.1:p.Ser213Arg, XP_016877730.1:p.Ser151Arg, XP_016877732.1:p.Ser115Arg, XP_024305702.1:p.Ser213Arg, XP_024305703.1:p.Ser213Arg, NP_001362739.1:p.Ser213Arg, NP_001362740.1:p.Ser213Arg, NP_001362741.1:p.Ser213Arg, XP_047288558.1:p.Ser213Arg, XP_047288559.1:p.Ser213Arg, XP_047288560.1:p.Ser213Arg

          5.

          rs1483794485 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            15:88184227 (GRCh38)
            15:88727458 (GRCh37)
            Canonical SPDI:
            NC_000015.10:88184226:C:G,NC_000015.10:88184226:C:T
            Gene:
            NTRK3 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            NC_000015.10:g.88184227C>G, NC_000015.10:g.88184227C>T, NC_000015.9:g.88727458C>G, NC_000015.9:g.88727458C>T, NG_029619.1:g.77505G>C, NG_029619.1:g.77505G>A, NM_001007156.3:c.321G>C, NM_001007156.3:c.321G>A, NM_001007156.2:c.321G>C, NM_001007156.2:c.321G>A, NM_001012338.2:c.321G>C, NM_001012338.2:c.321G>A, NM_001012338.3:c.321G>C, NM_001012338.3:c.321G>A, NM_001320135.2:c.27G>C, NM_001320135.2:c.27G>A, NM_001320135.1:c.27G>C, NM_001320135.1:c.27G>A, NM_001375813.1:c.321G>C, NM_001375813.1:c.321G>A, NM_001375814.1:c.321G>C, NM_001375814.1:c.321G>A, NM_001320134.1:c.321G>C, NM_001320134.1:c.321G>A, XM_006720548.5:c.321G>C, XM_006720548.5:c.321G>A, XM_006720548.4:c.321G>C, XM_006720548.4:c.321G>A, XM_006720548.3:c.321G>C, XM_006720548.3:c.321G>A, XM_006720548.2:c.321G>C, XM_006720548.2:c.321G>A, XM_006720548.1:c.321G>C, XM_006720548.1:c.321G>A, XM_006720545.5:c.321G>C, XM_006720545.5:c.321G>A, XM_006720545.4:c.321G>C, XM_006720545.4:c.321G>A, XM_006720545.3:c.321G>C, XM_006720545.3:c.321G>A, XM_006720545.2:c.321G>C, XM_006720545.2:c.321G>A, XM_006720545.1:c.321G>C, XM_006720545.1:c.321G>A, XM_006720549.5:c.321G>C, XM_006720549.5:c.321G>A, XM_006720549.4:c.321G>C, XM_006720549.4:c.321G>A, XM_006720549.3:c.321G>C, XM_006720549.3:c.321G>A, XM_006720549.2:c.321G>C, XM_006720549.2:c.321G>A, XM_006720549.1:c.321G>C, XM_006720549.1:c.321G>A, XM_006720550.5:c.321G>C, XM_006720550.5:c.321G>A, XM_006720550.4:c.321G>C, XM_006720550.4:c.321G>A, XM_006720550.3:c.321G>C, XM_006720550.3:c.321G>A, XM_006720550.2:c.321G>C, XM_006720550.2:c.321G>A, XM_006720550.1:c.321G>C, XM_006720550.1:c.321G>A, NM_002530.4:c.321G>C, NM_002530.4:c.321G>A, NM_002530.3:c.321G>C, NM_002530.3:c.321G>A, XM_011521638.4:c.321G>C, XM_011521638.4:c.321G>A, XM_011521638.3:c.321G>C, XM_011521638.3:c.321G>A, XM_011521638.2:c.321G>C, XM_011521638.2:c.321G>A, XM_011521638.1:c.321G>C, XM_011521638.1:c.321G>A, XM_017022254.3:c.321G>C, XM_017022254.3:c.321G>A, XM_017022254.2:c.321G>C, XM_017022254.2:c.321G>A, XM_017022254.1:c.321G>C, XM_017022254.1:c.321G>A, XM_017022245.3:c.27G>C, XM_017022245.3:c.27G>A, XM_017022245.2:c.27G>C, XM_017022245.2:c.27G>A, XM_017022245.1:c.27G>C, XM_017022245.1:c.27G>A, XM_017022244.3:c.27G>C, XM_017022244.3:c.27G>A, XM_017022244.2:c.27G>C, XM_017022244.2:c.27G>A, XM_017022244.1:c.27G>C, XM_017022244.1:c.27G>A, XR_001751292.3:n.347G>C, XR_001751292.3:n.347G>A, XR_001751292.2:n.964G>C, XR_001751292.2:n.964G>A, XR_001751292.1:n.936G>C, XR_001751292.1:n.936G>A, XM_017022242.3:c.321G>C, XM_017022242.3:c.321G>A, XM_017022242.2:c.321G>C, XM_017022242.2:c.321G>A, XM_017022242.1:c.321G>C, XM_017022242.1:c.321G>A, XM_017022250.3:c.321G>C, XM_017022250.3:c.321G>A, XM_017022250.2:c.321G>C, XM_017022250.2:c.321G>A, XM_017022250.1:c.321G>C, XM_017022250.1:c.321G>A, XR_001751293.3:n.347G>C, XR_001751293.3:n.347G>A, XR_001751293.2:n.959G>C, XR_001751293.2:n.959G>A, XR_001751293.1:n.936G>C, XR_001751293.1:n.936G>A, XM_017022240.2:c.321G>C, XM_017022240.2:c.321G>A, XM_017022240.1:c.321G>C, XM_017022240.1:c.321G>A, NM_001243101.2:c.321G>C, NM_001243101.2:c.321G>A, NM_001243101.1:c.321G>C, NM_001243101.1:c.321G>A, XM_017022241.2:c.135G>C, XM_017022241.2:c.135G>A, XM_017022241.1:c.135G>C, XM_017022241.1:c.135G>A, XM_017022243.2:c.27G>C, XM_017022243.2:c.27G>A, XM_017022243.1:c.27G>C, XM_017022243.1:c.27G>A, XM_024449934.2:c.321G>C, XM_024449934.2:c.321G>A, XM_024449934.1:c.321G>C, XM_024449934.1:c.321G>A, XR_002957645.2:n.347G>C, XR_002957645.2:n.347G>A, XR_002957645.1:n.960G>C, XR_002957645.1:n.960G>A, XM_024449935.2:c.321G>C, XM_024449935.2:c.321G>A, XM_024449935.1:c.321G>C, XM_024449935.1:c.321G>A, NM_001375810.1:c.321G>C, NM_001375810.1:c.321G>A, NM_001375811.1:c.321G>C, NM_001375811.1:c.321G>A, NM_001375812.1:c.321G>C, NM_001375812.1:c.321G>A, XM_047432602.1:c.321G>C, XM_047432602.1:c.321G>A, XM_047432603.1:c.321G>C, XM_047432603.1:c.321G>A, NM_001007155.1:c.321G>C, NM_001007155.1:c.321G>A, XM_047432604.1:c.321G>C, XM_047432604.1:c.321G>A, NP_001007157.1:p.Lys107Asn, NP_001012338.1:p.Lys107Asn, NP_001307064.1:p.Lys9Asn, NP_001362742.1:p.Lys107Asn, NP_001362743.1:p.Lys107Asn, NP_001307063.1:p.Lys107Asn, XP_006720611.1:p.Lys107Asn, XP_006720608.1:p.Lys107Asn, XP_006720612.1:p.Lys107Asn, XP_006720613.1:p.Lys107Asn, NP_002521.2:p.Lys107Asn, XP_011519940.1:p.Lys107Asn, XP_016877743.1:p.Lys107Asn, XP_016877734.1:p.Lys9Asn, XP_016877733.1:p.Lys9Asn, XP_016877731.1:p.Lys107Asn, XP_016877739.1:p.Lys107Asn, XP_016877729.1:p.Lys107Asn, NP_001230030.1:p.Lys107Asn, XP_016877730.1:p.Lys45Asn, XP_016877732.1:p.Lys9Asn, XP_024305702.1:p.Lys107Asn, XP_024305703.1:p.Lys107Asn, NP_001362739.1:p.Lys107Asn, NP_001362740.1:p.Lys107Asn, NP_001362741.1:p.Lys107Asn, XP_047288558.1:p.Lys107Asn, XP_047288559.1:p.Lys107Asn, XP_047288560.1:p.Lys107Asn

            6.

            rs1479448132 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->ATC [Show Flanks]
              Chromosome:
              15:88135317 (GRCh38)
              15:88678549 (GRCh37)
              Canonical SPDI:
              NC_000015.10:88135317::ATC
              Gene:
              NTRK3 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,inframe_insertion
              HGVS:
              NC_000015.10:g.88135317_88135318insATC, NC_000015.9:g.88678548_88678549insATC, NG_029619.1:g.126414_126415insGAT, NM_001007156.3:c.987_988insGAT, NM_001007156.2:c.987_988insGAT, NM_001012338.2:c.987_988insGAT, NM_001012338.3:c.987_988insGAT, NM_001320135.2:c.693_694insGAT, NM_001320135.1:c.693_694insGAT, NM_001375813.1:c.987_988insGAT, NM_001375814.1:c.987_988insGAT, NM_001320134.1:c.987_988insGAT, XM_006720548.5:c.987_988insGAT, XM_006720548.4:c.987_988insGAT, XM_006720548.3:c.987_988insGAT, XM_006720548.2:c.987_988insGAT, XM_006720548.1:c.987_988insGAT, XM_006720545.5:c.987_988insGAT, XM_006720545.4:c.987_988insGAT, XM_006720545.3:c.987_988insGAT, XM_006720545.2:c.987_988insGAT, XM_006720545.1:c.987_988insGAT, XM_006720549.5:c.987_988insGAT, XM_006720549.4:c.987_988insGAT, XM_006720549.3:c.987_988insGAT, XM_006720549.2:c.987_988insGAT, XM_006720549.1:c.987_988insGAT, XM_006720550.5:c.987_988insGAT, XM_006720550.4:c.987_988insGAT, XM_006720550.3:c.987_988insGAT, XM_006720550.2:c.987_988insGAT, XM_006720550.1:c.987_988insGAT, NM_002530.4:c.987_988insGAT, NM_002530.3:c.987_988insGAT, XM_011521638.4:c.987_988insGAT, XM_011521638.3:c.987_988insGAT, XM_011521638.2:c.987_988insGAT, XM_011521638.1:c.987_988insGAT, XM_017022254.3:c.987_988insGAT, XM_017022254.2:c.987_988insGAT, XM_017022254.1:c.987_988insGAT, XM_017022245.3:c.693_694insGAT, XM_017022245.2:c.693_694insGAT, XM_017022245.1:c.693_694insGAT, XM_017022244.3:c.693_694insGAT, XM_017022244.2:c.693_694insGAT, XM_017022244.1:c.693_694insGAT, XR_001751292.3:n.1013_1014insGAT, XR_001751292.2:n.1630_1631insGAT, XR_001751292.1:n.1602_1603insGAT, XM_017022242.3:c.987_988insGAT, XM_017022242.2:c.987_988insGAT, XM_017022242.1:c.987_988insGAT, XM_017022250.3:c.987_988insGAT, XM_017022250.2:c.987_988insGAT, XM_017022250.1:c.987_988insGAT, XR_001751293.3:n.1013_1014insGAT, XR_001751293.2:n.1625_1626insGAT, XR_001751293.1:n.1602_1603insGAT, XM_017022240.2:c.987_988insGAT, XM_017022240.1:c.987_988insGAT, NM_001243101.2:c.987_988insGAT, NM_001243101.1:c.987_988insGAT, XM_017022241.2:c.801_802insGAT, XM_017022241.1:c.801_802insGAT, XM_017022243.2:c.693_694insGAT, XM_017022243.1:c.693_694insGAT, XM_024449934.2:c.987_988insGAT, XM_024449934.1:c.987_988insGAT, XR_002957645.2:n.1013_1014insGAT, XR_002957645.1:n.1626_1627insGAT, XM_024449935.2:c.987_988insGAT, XM_024449935.1:c.987_988insGAT, NM_001375810.1:c.987_988insGAT, NM_001375811.1:c.987_988insGAT, NM_001375812.1:c.987_988insGAT, XM_047432602.1:c.987_988insGAT, XM_047432603.1:c.987_988insGAT, NM_001007155.1:c.987_988insGAT, XM_047432604.1:c.987_988insGAT, NP_001007157.1:p.Pro330_Pro331insAsp, NP_001012338.1:p.Pro330_Pro331insAsp, NP_001307064.1:p.Pro232_Pro233insAsp, NP_001362742.1:p.Pro330_Pro331insAsp, NP_001362743.1:p.Pro330_Pro331insAsp, NP_001307063.1:p.Pro330_Pro331insAsp, XP_006720611.1:p.Pro330_Pro331insAsp, XP_006720608.1:p.Pro330_Pro331insAsp, XP_006720612.1:p.Pro330_Pro331insAsp, XP_006720613.1:p.Pro330_Pro331insAsp, NP_002521.2:p.Pro330_Pro331insAsp, XP_011519940.1:p.Pro330_Pro331insAsp, XP_016877743.1:p.Pro330_Pro331insAsp, XP_016877734.1:p.Pro232_Pro233insAsp, XP_016877733.1:p.Pro232_Pro233insAsp, XP_016877731.1:p.Pro330_Pro331insAsp, XP_016877739.1:p.Pro330_Pro331insAsp, XP_016877729.1:p.Pro330_Pro331insAsp, NP_001230030.1:p.Pro330_Pro331insAsp, XP_016877730.1:p.Pro268_Pro269insAsp, XP_016877732.1:p.Pro232_Pro233insAsp, XP_024305702.1:p.Pro330_Pro331insAsp, XP_024305703.1:p.Pro330_Pro331insAsp, NP_001362739.1:p.Pro330_Pro331insAsp, NP_001362740.1:p.Pro330_Pro331insAsp, NP_001362741.1:p.Pro330_Pro331insAsp, XP_047288558.1:p.Pro330_Pro331insAsp, XP_047288559.1:p.Pro330_Pro331insAsp, XP_047288560.1:p.Pro330_Pro331insAsp

              7.

              rs1478613998 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                15:88127197 (GRCh38)
                15:88670428 (GRCh37)
                Canonical SPDI:
                NC_000015.10:88127196:T:C
                Gene:
                NTRK3 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000008/2 (TOPMED)
                HGVS:
                NC_000015.10:g.88127197T>C, NC_000015.9:g.88670428T>C, NG_029619.1:g.134535A>G, NM_001007156.3:c.1258A>G, NM_001007156.2:c.1258A>G, NM_001012338.2:c.1258A>G, NM_001012338.3:c.1258A>G, NM_001320135.2:c.964A>G, NM_001320135.1:c.964A>G, NM_001375813.1:c.1258A>G, NM_001375814.1:c.1234A>G, NM_001320134.1:c.1258A>G, XM_006720548.5:c.1258A>G, XM_006720548.4:c.1258A>G, XM_006720548.3:c.1258A>G, XM_006720548.2:c.1258A>G, XM_006720548.1:c.1258A>G, XM_006720545.5:c.1258A>G, XM_006720545.4:c.1258A>G, XM_006720545.3:c.1258A>G, XM_006720545.2:c.1258A>G, XM_006720545.1:c.1258A>G, XM_006720549.5:c.1258A>G, XM_006720549.4:c.1258A>G, XM_006720549.3:c.1258A>G, XM_006720549.2:c.1258A>G, XM_006720549.1:c.1258A>G, XM_006720550.5:c.1234A>G, XM_006720550.4:c.1234A>G, XM_006720550.3:c.1234A>G, XM_006720550.2:c.1234A>G, XM_006720550.1:c.1234A>G, NM_002530.4:c.1258A>G, NM_002530.3:c.1258A>G, XM_011521638.4:c.1258A>G, XM_011521638.3:c.1258A>G, XM_011521638.2:c.1258A>G, XM_011521638.1:c.1258A>G, XM_017022254.3:c.1258A>G, XM_017022254.2:c.1258A>G, XM_017022254.1:c.1258A>G, XM_017022245.3:c.964A>G, XM_017022245.2:c.964A>G, XM_017022245.1:c.964A>G, XM_017022244.3:c.964A>G, XM_017022244.2:c.964A>G, XM_017022244.1:c.964A>G, XM_017022251.3:c.151A>G, XM_017022251.2:c.151A>G, XM_017022251.1:c.151A>G, XM_017022252.3:c.127A>G, XM_017022252.2:c.127A>G, XM_017022252.1:c.127A>G, XR_001751292.3:n.1284A>G, XR_001751292.2:n.1901A>G, XR_001751292.1:n.1873A>G, XM_017022242.3:c.1258A>G, XM_017022242.2:c.1258A>G, XM_017022242.1:c.1258A>G, XM_017022250.3:c.1258A>G, XM_017022250.2:c.1258A>G, XM_017022250.1:c.1258A>G, XR_001751293.3:n.1284A>G, XR_001751293.2:n.1896A>G, XR_001751293.1:n.1873A>G, XM_017022240.2:c.1258A>G, XM_017022240.1:c.1258A>G, NM_001243101.2:c.1234A>G, NM_001243101.1:c.1234A>G, XM_017022241.2:c.1072A>G, XM_017022241.1:c.1072A>G, XM_017022243.2:c.964A>G, XM_017022243.1:c.964A>G, XM_024449934.2:c.1258A>G, XM_024449934.1:c.1258A>G, XR_002957645.2:n.1260A>G, XR_002957645.1:n.1873A>G, XM_024449935.2:c.1258A>G, XM_024449935.1:c.1258A>G, NM_001375810.1:c.1258A>G, NM_001375811.1:c.1258A>G, NM_001375812.1:c.1234A>G, XM_047432602.1:c.1234A>G, XM_047432603.1:c.1234A>G, NM_001007155.1:c.1258A>G, XM_047432604.1:c.1234A>G, NP_001007157.1:p.Thr420Ala, NP_001012338.1:p.Thr420Ala, NP_001307064.1:p.Thr322Ala, NP_001362742.1:p.Thr420Ala, NP_001362743.1:p.Thr412Ala, NP_001307063.1:p.Thr420Ala, XP_006720611.1:p.Thr420Ala, XP_006720608.1:p.Thr420Ala, XP_006720612.1:p.Thr420Ala, XP_006720613.1:p.Thr412Ala, NP_002521.2:p.Thr420Ala, XP_011519940.1:p.Thr420Ala, XP_016877743.1:p.Thr420Ala, XP_016877734.1:p.Thr322Ala, XP_016877733.1:p.Thr322Ala, XP_016877740.1:p.Thr51Ala, XP_016877741.1:p.Thr43Ala, XP_016877731.1:p.Thr420Ala, XP_016877739.1:p.Thr420Ala, XP_016877729.1:p.Thr420Ala, NP_001230030.1:p.Thr412Ala, XP_016877730.1:p.Thr358Ala, XP_016877732.1:p.Thr322Ala, XP_024305702.1:p.Thr420Ala, XP_024305703.1:p.Thr420Ala, NP_001362739.1:p.Thr420Ala, NP_001362740.1:p.Thr420Ala, NP_001362741.1:p.Thr412Ala, XP_047288558.1:p.Thr412Ala, XP_047288559.1:p.Thr412Ala, XP_047288560.1:p.Thr412Ala

                8.

                rs1469522784 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  15:88135919 (GRCh38)
                  15:88679150 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:88135918:C:A
                  Gene:
                  NTRK3 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000031/1 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000004/1 (TOPMED)
                  A=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000015.10:g.88135919C>A, NC_000015.9:g.88679150C>A, NG_029619.1:g.125813G>T, NM_001007156.3:c.887G>T, NM_001007156.2:c.887G>T, NM_001012338.2:c.887G>T, NM_001012338.3:c.887G>T, NM_001320135.2:c.593G>T, NM_001320135.1:c.593G>T, NM_001375813.1:c.887G>T, NM_001375814.1:c.887G>T, NM_001320134.1:c.887G>T, XM_006720548.5:c.887G>T, XM_006720548.4:c.887G>T, XM_006720548.3:c.887G>T, XM_006720548.2:c.887G>T, XM_006720548.1:c.887G>T, XM_006720545.5:c.887G>T, XM_006720545.4:c.887G>T, XM_006720545.3:c.887G>T, XM_006720545.2:c.887G>T, XM_006720545.1:c.887G>T, XM_006720549.5:c.887G>T, XM_006720549.4:c.887G>T, XM_006720549.3:c.887G>T, XM_006720549.2:c.887G>T, XM_006720549.1:c.887G>T, XM_006720550.5:c.887G>T, XM_006720550.4:c.887G>T, XM_006720550.3:c.887G>T, XM_006720550.2:c.887G>T, XM_006720550.1:c.887G>T, NM_002530.4:c.887G>T, NM_002530.3:c.887G>T, XM_011521638.4:c.887G>T, XM_011521638.3:c.887G>T, XM_011521638.2:c.887G>T, XM_011521638.1:c.887G>T, XM_017022254.3:c.887G>T, XM_017022254.2:c.887G>T, XM_017022254.1:c.887G>T, XM_017022245.3:c.593G>T, XM_017022245.2:c.593G>T, XM_017022245.1:c.593G>T, XM_017022244.3:c.593G>T, XM_017022244.2:c.593G>T, XM_017022244.1:c.593G>T, XR_001751292.3:n.913G>T, XR_001751292.2:n.1530G>T, XR_001751292.1:n.1502G>T, XM_017022242.3:c.887G>T, XM_017022242.2:c.887G>T, XM_017022242.1:c.887G>T, XM_017022250.3:c.887G>T, XM_017022250.2:c.887G>T, XM_017022250.1:c.887G>T, XR_001751293.3:n.913G>T, XR_001751293.2:n.1525G>T, XR_001751293.1:n.1502G>T, XM_017022240.2:c.887G>T, XM_017022240.1:c.887G>T, NM_001243101.2:c.887G>T, NM_001243101.1:c.887G>T, XM_017022241.2:c.701G>T, XM_017022241.1:c.701G>T, XM_017022243.2:c.593G>T, XM_017022243.1:c.593G>T, XM_024449934.2:c.887G>T, XM_024449934.1:c.887G>T, XR_002957645.2:n.913G>T, XR_002957645.1:n.1526G>T, XM_024449935.2:c.887G>T, XM_024449935.1:c.887G>T, NM_001375810.1:c.887G>T, NM_001375811.1:c.887G>T, NM_001375812.1:c.887G>T, XM_047432602.1:c.887G>T, XM_047432603.1:c.887G>T, NM_001007155.1:c.887G>T, XM_047432604.1:c.887G>T, NP_001007157.1:p.Ser296Ile, NP_001012338.1:p.Ser296Ile, NP_001307064.1:p.Ser198Ile, NP_001362742.1:p.Ser296Ile, NP_001362743.1:p.Ser296Ile, NP_001307063.1:p.Ser296Ile, XP_006720611.1:p.Ser296Ile, XP_006720608.1:p.Ser296Ile, XP_006720612.1:p.Ser296Ile, XP_006720613.1:p.Ser296Ile, NP_002521.2:p.Ser296Ile, XP_011519940.1:p.Ser296Ile, XP_016877743.1:p.Ser296Ile, XP_016877734.1:p.Ser198Ile, XP_016877733.1:p.Ser198Ile, XP_016877731.1:p.Ser296Ile, XP_016877739.1:p.Ser296Ile, XP_016877729.1:p.Ser296Ile, NP_001230030.1:p.Ser296Ile, XP_016877730.1:p.Ser234Ile, XP_016877732.1:p.Ser198Ile, XP_024305702.1:p.Ser296Ile, XP_024305703.1:p.Ser296Ile, NP_001362739.1:p.Ser296Ile, NP_001362740.1:p.Ser296Ile, NP_001362741.1:p.Ser296Ile, XP_047288558.1:p.Ser296Ile, XP_047288559.1:p.Ser296Ile, XP_047288560.1:p.Ser296Ile

                  9.

                  rs1468783481 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    G>- [Show Flanks]
                    Chromosome:
                    15:88072594 (GRCh38)
                    15:88615825 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:88072593:GG:G
                    Gene:
                    NTRK3 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,intron_variant,frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    GG=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    -=0.000007/1 (GnomAD)
                    HGVS:

                    10.

                    rs1468041467 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A,C [Show Flanks]
                      Chromosome:
                      15:88135266 (GRCh38)
                      15:88678497 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:88135265:T:A,NC_000015.10:88135265:T:C
                      Gene:
                      NTRK3 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000014/2 (GnomAD)
                      A=0.000015/4 (TOPMED)
                      HGVS:
                      NC_000015.10:g.88135266T>A, NC_000015.10:g.88135266T>C, NC_000015.9:g.88678497T>A, NC_000015.9:g.88678497T>C, NG_029619.1:g.126466A>T, NG_029619.1:g.126466A>G, NM_001007156.3:c.1039A>T, NM_001007156.3:c.1039A>G, NM_001007156.2:c.1039A>T, NM_001007156.2:c.1039A>G, NM_001012338.2:c.1039A>T, NM_001012338.2:c.1039A>G, NM_001012338.3:c.1039A>T, NM_001012338.3:c.1039A>G, NM_001320135.2:c.745A>T, NM_001320135.2:c.745A>G, NM_001320135.1:c.745A>T, NM_001320135.1:c.745A>G, NM_001375813.1:c.1039A>T, NM_001375813.1:c.1039A>G, NM_001375814.1:c.1039A>T, NM_001375814.1:c.1039A>G, NM_001320134.1:c.1039A>T, NM_001320134.1:c.1039A>G, XM_006720548.5:c.1039A>T, XM_006720548.5:c.1039A>G, XM_006720548.4:c.1039A>T, XM_006720548.4:c.1039A>G, XM_006720548.3:c.1039A>T, XM_006720548.3:c.1039A>G, XM_006720548.2:c.1039A>T, XM_006720548.2:c.1039A>G, XM_006720548.1:c.1039A>T, XM_006720548.1:c.1039A>G, XM_006720545.5:c.1039A>T, XM_006720545.5:c.1039A>G, XM_006720545.4:c.1039A>T, XM_006720545.4:c.1039A>G, XM_006720545.3:c.1039A>T, XM_006720545.3:c.1039A>G, XM_006720545.2:c.1039A>T, XM_006720545.2:c.1039A>G, XM_006720545.1:c.1039A>T, XM_006720545.1:c.1039A>G, XM_006720549.5:c.1039A>T, XM_006720549.5:c.1039A>G, XM_006720549.4:c.1039A>T, XM_006720549.4:c.1039A>G, XM_006720549.3:c.1039A>T, XM_006720549.3:c.1039A>G, XM_006720549.2:c.1039A>T, XM_006720549.2:c.1039A>G, XM_006720549.1:c.1039A>T, XM_006720549.1:c.1039A>G, XM_006720550.5:c.1039A>T, XM_006720550.5:c.1039A>G, XM_006720550.4:c.1039A>T, XM_006720550.4:c.1039A>G, XM_006720550.3:c.1039A>T, XM_006720550.3:c.1039A>G, XM_006720550.2:c.1039A>T, XM_006720550.2:c.1039A>G, XM_006720550.1:c.1039A>T, XM_006720550.1:c.1039A>G, NM_002530.4:c.1039A>T, NM_002530.4:c.1039A>G, NM_002530.3:c.1039A>T, NM_002530.3:c.1039A>G, XM_011521638.4:c.1039A>T, XM_011521638.4:c.1039A>G, XM_011521638.3:c.1039A>T, XM_011521638.3:c.1039A>G, XM_011521638.2:c.1039A>T, XM_011521638.2:c.1039A>G, XM_011521638.1:c.1039A>T, XM_011521638.1:c.1039A>G, XM_017022254.3:c.1039A>T, XM_017022254.3:c.1039A>G, XM_017022254.2:c.1039A>T, XM_017022254.2:c.1039A>G, XM_017022254.1:c.1039A>T, XM_017022254.1:c.1039A>G, XM_017022245.3:c.745A>T, XM_017022245.3:c.745A>G, XM_017022245.2:c.745A>T, XM_017022245.2:c.745A>G, XM_017022245.1:c.745A>T, XM_017022245.1:c.745A>G, XM_017022244.3:c.745A>T, XM_017022244.3:c.745A>G, XM_017022244.2:c.745A>T, XM_017022244.2:c.745A>G, XM_017022244.1:c.745A>T, XM_017022244.1:c.745A>G, XR_001751292.3:n.1065A>T, XR_001751292.3:n.1065A>G, XR_001751292.2:n.1682A>T, XR_001751292.2:n.1682A>G, XR_001751292.1:n.1654A>T, XR_001751292.1:n.1654A>G, XM_017022242.3:c.1039A>T, XM_017022242.3:c.1039A>G, XM_017022242.2:c.1039A>T, XM_017022242.2:c.1039A>G, XM_017022242.1:c.1039A>T, XM_017022242.1:c.1039A>G, XM_017022250.3:c.1039A>T, XM_017022250.3:c.1039A>G, XM_017022250.2:c.1039A>T, XM_017022250.2:c.1039A>G, XM_017022250.1:c.1039A>T, XM_017022250.1:c.1039A>G, XR_001751293.3:n.1065A>T, XR_001751293.3:n.1065A>G, XR_001751293.2:n.1677A>T, XR_001751293.2:n.1677A>G, XR_001751293.1:n.1654A>T, XR_001751293.1:n.1654A>G, XM_017022240.2:c.1039A>T, XM_017022240.2:c.1039A>G, XM_017022240.1:c.1039A>T, XM_017022240.1:c.1039A>G, NM_001243101.2:c.1039A>T, NM_001243101.2:c.1039A>G, NM_001243101.1:c.1039A>T, NM_001243101.1:c.1039A>G, XM_017022241.2:c.853A>T, XM_017022241.2:c.853A>G, XM_017022241.1:c.853A>T, XM_017022241.1:c.853A>G, XM_017022243.2:c.745A>T, XM_017022243.2:c.745A>G, XM_017022243.1:c.745A>T, XM_017022243.1:c.745A>G, XM_024449934.2:c.1039A>T, XM_024449934.2:c.1039A>G, XM_024449934.1:c.1039A>T, XM_024449934.1:c.1039A>G, XR_002957645.2:n.1065A>T, XR_002957645.2:n.1065A>G, XR_002957645.1:n.1678A>T, XR_002957645.1:n.1678A>G, XM_024449935.2:c.1039A>T, XM_024449935.2:c.1039A>G, XM_024449935.1:c.1039A>T, XM_024449935.1:c.1039A>G, NM_001375810.1:c.1039A>T, NM_001375810.1:c.1039A>G, NM_001375811.1:c.1039A>T, NM_001375811.1:c.1039A>G, NM_001375812.1:c.1039A>T, NM_001375812.1:c.1039A>G, XM_047432602.1:c.1039A>T, XM_047432602.1:c.1039A>G, XM_047432603.1:c.1039A>T, XM_047432603.1:c.1039A>G, NM_001007155.1:c.1039A>T, NM_001007155.1:c.1039A>G, XM_047432604.1:c.1039A>T, XM_047432604.1:c.1039A>G, NP_001007157.1:p.Ile347Phe, NP_001007157.1:p.Ile347Val, NP_001012338.1:p.Ile347Phe, NP_001012338.1:p.Ile347Val, NP_001307064.1:p.Ile249Phe, NP_001307064.1:p.Ile249Val, NP_001362742.1:p.Ile347Phe, NP_001362742.1:p.Ile347Val, NP_001362743.1:p.Ile347Phe, NP_001362743.1:p.Ile347Val, NP_001307063.1:p.Ile347Phe, NP_001307063.1:p.Ile347Val, XP_006720611.1:p.Ile347Phe, XP_006720611.1:p.Ile347Val, XP_006720608.1:p.Ile347Phe, XP_006720608.1:p.Ile347Val, XP_006720612.1:p.Ile347Phe, XP_006720612.1:p.Ile347Val, XP_006720613.1:p.Ile347Phe, XP_006720613.1:p.Ile347Val, NP_002521.2:p.Ile347Phe, NP_002521.2:p.Ile347Val, XP_011519940.1:p.Ile347Phe, XP_011519940.1:p.Ile347Val, XP_016877743.1:p.Ile347Phe, XP_016877743.1:p.Ile347Val, XP_016877734.1:p.Ile249Phe, XP_016877734.1:p.Ile249Val, XP_016877733.1:p.Ile249Phe, XP_016877733.1:p.Ile249Val, XP_016877731.1:p.Ile347Phe, XP_016877731.1:p.Ile347Val, XP_016877739.1:p.Ile347Phe, XP_016877739.1:p.Ile347Val, XP_016877729.1:p.Ile347Phe, XP_016877729.1:p.Ile347Val, NP_001230030.1:p.Ile347Phe, NP_001230030.1:p.Ile347Val, XP_016877730.1:p.Ile285Phe, XP_016877730.1:p.Ile285Val, XP_016877732.1:p.Ile249Phe, XP_016877732.1:p.Ile249Val, XP_024305702.1:p.Ile347Phe, XP_024305702.1:p.Ile347Val, XP_024305703.1:p.Ile347Phe, XP_024305703.1:p.Ile347Val, NP_001362739.1:p.Ile347Phe, NP_001362739.1:p.Ile347Val, NP_001362740.1:p.Ile347Phe, NP_001362740.1:p.Ile347Val, NP_001362741.1:p.Ile347Phe, NP_001362741.1:p.Ile347Val, XP_047288558.1:p.Ile347Phe, XP_047288558.1:p.Ile347Val, XP_047288559.1:p.Ile347Phe, XP_047288559.1:p.Ile347Val, XP_047288560.1:p.Ile347Phe, XP_047288560.1:p.Ile347Val

                      11.

                      rs1467942640 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        15:88136568 (GRCh38)
                        15:88679799 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:88136567:G:A,NC_000015.10:88136567:G:C
                        Gene:
                        NTRK3 (Varview)
                        Functional Consequence:
                        missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,stop_gained,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000111/1 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000015.10:g.88136568G>A, NC_000015.10:g.88136568G>C, NC_000015.9:g.88679799G>A, NC_000015.9:g.88679799G>C, NG_029619.1:g.125164C>T, NG_029619.1:g.125164C>G, NM_001007156.3:c.664C>T, NM_001007156.3:c.664C>G, NM_001007156.2:c.664C>T, NM_001007156.2:c.664C>G, NM_001012338.2:c.664C>T, NM_001012338.2:c.664C>G, NM_001012338.3:c.664C>T, NM_001012338.3:c.664C>G, NM_001320135.2:c.370C>T, NM_001320135.2:c.370C>G, NM_001320135.1:c.370C>T, NM_001320135.1:c.370C>G, NM_001375813.1:c.664C>T, NM_001375813.1:c.664C>G, NM_001375814.1:c.664C>T, NM_001375814.1:c.664C>G, NM_001320134.1:c.664C>T, NM_001320134.1:c.664C>G, XM_006720548.5:c.664C>T, XM_006720548.5:c.664C>G, XM_006720548.4:c.664C>T, XM_006720548.4:c.664C>G, XM_006720548.3:c.664C>T, XM_006720548.3:c.664C>G, XM_006720548.2:c.664C>T, XM_006720548.2:c.664C>G, XM_006720548.1:c.664C>T, XM_006720548.1:c.664C>G, XM_006720545.5:c.664C>T, XM_006720545.5:c.664C>G, XM_006720545.4:c.664C>T, XM_006720545.4:c.664C>G, XM_006720545.3:c.664C>T, XM_006720545.3:c.664C>G, XM_006720545.2:c.664C>T, XM_006720545.2:c.664C>G, XM_006720545.1:c.664C>T, XM_006720545.1:c.664C>G, XM_006720549.5:c.664C>T, XM_006720549.5:c.664C>G, XM_006720549.4:c.664C>T, XM_006720549.4:c.664C>G, XM_006720549.3:c.664C>T, XM_006720549.3:c.664C>G, XM_006720549.2:c.664C>T, XM_006720549.2:c.664C>G, XM_006720549.1:c.664C>T, XM_006720549.1:c.664C>G, XM_006720550.5:c.664C>T, XM_006720550.5:c.664C>G, XM_006720550.4:c.664C>T, XM_006720550.4:c.664C>G, XM_006720550.3:c.664C>T, XM_006720550.3:c.664C>G, XM_006720550.2:c.664C>T, XM_006720550.2:c.664C>G, XM_006720550.1:c.664C>T, XM_006720550.1:c.664C>G, NM_002530.4:c.664C>T, NM_002530.4:c.664C>G, NM_002530.3:c.664C>T, NM_002530.3:c.664C>G, XM_011521638.4:c.664C>T, XM_011521638.4:c.664C>G, XM_011521638.3:c.664C>T, XM_011521638.3:c.664C>G, XM_011521638.2:c.664C>T, XM_011521638.2:c.664C>G, XM_011521638.1:c.664C>T, XM_011521638.1:c.664C>G, XM_017022254.3:c.664C>T, XM_017022254.3:c.664C>G, XM_017022254.2:c.664C>T, XM_017022254.2:c.664C>G, XM_017022254.1:c.664C>T, XM_017022254.1:c.664C>G, XM_017022245.3:c.370C>T, XM_017022245.3:c.370C>G, XM_017022245.2:c.370C>T, XM_017022245.2:c.370C>G, XM_017022245.1:c.370C>T, XM_017022245.1:c.370C>G, XM_017022244.3:c.370C>T, XM_017022244.3:c.370C>G, XM_017022244.2:c.370C>T, XM_017022244.2:c.370C>G, XM_017022244.1:c.370C>T, XM_017022244.1:c.370C>G, XR_001751292.3:n.690C>T, XR_001751292.3:n.690C>G, XR_001751292.2:n.1307C>T, XR_001751292.2:n.1307C>G, XR_001751292.1:n.1279C>T, XR_001751292.1:n.1279C>G, XM_017022242.3:c.664C>T, XM_017022242.3:c.664C>G, XM_017022242.2:c.664C>T, XM_017022242.2:c.664C>G, XM_017022242.1:c.664C>T, XM_017022242.1:c.664C>G, XM_017022250.3:c.664C>T, XM_017022250.3:c.664C>G, XM_017022250.2:c.664C>T, XM_017022250.2:c.664C>G, XM_017022250.1:c.664C>T, XM_017022250.1:c.664C>G, XR_001751293.3:n.690C>T, XR_001751293.3:n.690C>G, XR_001751293.2:n.1302C>T, XR_001751293.2:n.1302C>G, XR_001751293.1:n.1279C>T, XR_001751293.1:n.1279C>G, XM_017022240.2:c.664C>T, XM_017022240.2:c.664C>G, XM_017022240.1:c.664C>T, XM_017022240.1:c.664C>G, NM_001243101.2:c.664C>T, NM_001243101.2:c.664C>G, NM_001243101.1:c.664C>T, NM_001243101.1:c.664C>G, XM_017022241.2:c.478C>T, XM_017022241.2:c.478C>G, XM_017022241.1:c.478C>T, XM_017022241.1:c.478C>G, XM_017022243.2:c.370C>T, XM_017022243.2:c.370C>G, XM_017022243.1:c.370C>T, XM_017022243.1:c.370C>G, XM_024449934.2:c.664C>T, XM_024449934.2:c.664C>G, XM_024449934.1:c.664C>T, XM_024449934.1:c.664C>G, XR_002957645.2:n.690C>T, XR_002957645.2:n.690C>G, XR_002957645.1:n.1303C>T, XR_002957645.1:n.1303C>G, XM_024449935.2:c.664C>T, XM_024449935.2:c.664C>G, XM_024449935.1:c.664C>T, XM_024449935.1:c.664C>G, NM_001375810.1:c.664C>T, NM_001375810.1:c.664C>G, NM_001375811.1:c.664C>T, NM_001375811.1:c.664C>G, NM_001375812.1:c.664C>T, NM_001375812.1:c.664C>G, XM_047432602.1:c.664C>T, XM_047432602.1:c.664C>G, XM_047432603.1:c.664C>T, XM_047432603.1:c.664C>G, NM_001007155.1:c.664C>T, NM_001007155.1:c.664C>G, XM_047432604.1:c.664C>T, XM_047432604.1:c.664C>G, NP_001007157.1:p.Arg222Ter, NP_001007157.1:p.Arg222Gly, NP_001012338.1:p.Arg222Ter, NP_001012338.1:p.Arg222Gly, NP_001307064.1:p.Arg124Ter, NP_001307064.1:p.Arg124Gly, NP_001362742.1:p.Arg222Ter, NP_001362742.1:p.Arg222Gly, NP_001362743.1:p.Arg222Ter, NP_001362743.1:p.Arg222Gly, NP_001307063.1:p.Arg222Ter, NP_001307063.1:p.Arg222Gly, XP_006720611.1:p.Arg222Ter, XP_006720611.1:p.Arg222Gly, XP_006720608.1:p.Arg222Ter, XP_006720608.1:p.Arg222Gly, XP_006720612.1:p.Arg222Ter, XP_006720612.1:p.Arg222Gly, XP_006720613.1:p.Arg222Ter, XP_006720613.1:p.Arg222Gly, NP_002521.2:p.Arg222Ter, NP_002521.2:p.Arg222Gly, XP_011519940.1:p.Arg222Ter, XP_011519940.1:p.Arg222Gly, XP_016877743.1:p.Arg222Ter, XP_016877743.1:p.Arg222Gly, XP_016877734.1:p.Arg124Ter, XP_016877734.1:p.Arg124Gly, XP_016877733.1:p.Arg124Ter, XP_016877733.1:p.Arg124Gly, XP_016877731.1:p.Arg222Ter, XP_016877731.1:p.Arg222Gly, XP_016877739.1:p.Arg222Ter, XP_016877739.1:p.Arg222Gly, XP_016877729.1:p.Arg222Ter, XP_016877729.1:p.Arg222Gly, NP_001230030.1:p.Arg222Ter, NP_001230030.1:p.Arg222Gly, XP_016877730.1:p.Arg160Ter, XP_016877730.1:p.Arg160Gly, XP_016877732.1:p.Arg124Ter, XP_016877732.1:p.Arg124Gly, XP_024305702.1:p.Arg222Ter, XP_024305702.1:p.Arg222Gly, XP_024305703.1:p.Arg222Ter, XP_024305703.1:p.Arg222Gly, NP_001362739.1:p.Arg222Ter, NP_001362739.1:p.Arg222Gly, NP_001362740.1:p.Arg222Ter, NP_001362740.1:p.Arg222Gly, NP_001362741.1:p.Arg222Ter, NP_001362741.1:p.Arg222Gly, XP_047288558.1:p.Arg222Ter, XP_047288558.1:p.Arg222Gly, XP_047288559.1:p.Arg222Ter, XP_047288559.1:p.Arg222Gly, XP_047288560.1:p.Arg222Ter, XP_047288560.1:p.Arg222Gly

                        12.

                        rs1465837535 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          15:88256136 (GRCh38)
                          15:88799367 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:88256135:G:A
                          Gene:
                          NTRK3 (Varview), NTRK3-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000015.10:g.88256136G>A, NC_000015.9:g.88799367G>A, NG_029619.1:g.5596C>T, NM_001007156.3:c.18C>T, NM_001007156.2:c.18C>T, NM_001012338.2:c.18C>T, NM_001012338.3:c.18C>T, NM_001375813.1:c.18C>T, NM_001375814.1:c.18C>T, NM_001320134.1:c.18C>T, XM_006720548.5:c.18C>T, XM_006720548.4:c.18C>T, XM_006720548.3:c.18C>T, XM_006720548.2:c.18C>T, XM_006720548.1:c.18C>T, XM_006720545.5:c.18C>T, XM_006720545.4:c.18C>T, XM_006720545.3:c.18C>T, XM_006720545.2:c.18C>T, XM_006720545.1:c.18C>T, XM_006720549.5:c.18C>T, XM_006720549.4:c.18C>T, XM_006720549.3:c.18C>T, XM_006720549.2:c.18C>T, XM_006720549.1:c.18C>T, XM_006720550.5:c.18C>T, XM_006720550.4:c.18C>T, XM_006720550.3:c.18C>T, XM_006720550.2:c.18C>T, XM_006720550.1:c.18C>T, NM_002530.4:c.18C>T, NM_002530.3:c.18C>T, XM_011521638.4:c.18C>T, XM_011521638.3:c.18C>T, XM_011521638.2:c.18C>T, XM_011521638.1:c.18C>T, XM_017022254.3:c.18C>T, XM_017022254.2:c.18C>T, XM_017022254.1:c.18C>T, XR_001751292.3:n.44C>T, XR_001751292.2:n.661C>T, XR_001751292.1:n.633C>T, XM_017022242.3:c.18C>T, XM_017022242.2:c.18C>T, XM_017022242.1:c.18C>T, XM_017022250.3:c.18C>T, XM_017022250.2:c.18C>T, XM_017022250.1:c.18C>T, XR_001751293.3:n.44C>T, XR_001751293.2:n.656C>T, XR_001751293.1:n.633C>T, XM_017022240.2:c.18C>T, XM_017022240.1:c.18C>T, NM_001243101.2:c.18C>T, NM_001243101.1:c.18C>T, XM_024449934.2:c.18C>T, XM_024449934.1:c.18C>T, XR_002957645.2:n.44C>T, XR_002957645.1:n.657C>T, XM_024449935.2:c.18C>T, XM_024449935.1:c.18C>T, NM_001375810.1:c.18C>T, NM_001375811.1:c.18C>T, NM_001375812.1:c.18C>T, XM_047432602.1:c.18C>T, XM_047432603.1:c.18C>T, NM_001007155.1:c.18C>T, XM_047432604.1:c.18C>T

                          13.

                          rs1465210745 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            15:88135909 (GRCh38)
                            15:88679140 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:88135908:G:A
                            Gene:
                            NTRK3 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000015.10:g.88135909G>A, NC_000015.9:g.88679140G>A, NG_029619.1:g.125823C>T, NM_001007156.3:c.897C>T, NM_001007156.2:c.897C>T, NM_001012338.2:c.897C>T, NM_001012338.3:c.897C>T, NM_001320135.2:c.603C>T, NM_001320135.1:c.603C>T, NM_001375813.1:c.897C>T, NM_001375814.1:c.897C>T, NM_001320134.1:c.897C>T, XM_006720548.5:c.897C>T, XM_006720548.4:c.897C>T, XM_006720548.3:c.897C>T, XM_006720548.2:c.897C>T, XM_006720548.1:c.897C>T, XM_006720545.5:c.897C>T, XM_006720545.4:c.897C>T, XM_006720545.3:c.897C>T, XM_006720545.2:c.897C>T, XM_006720545.1:c.897C>T, XM_006720549.5:c.897C>T, XM_006720549.4:c.897C>T, XM_006720549.3:c.897C>T, XM_006720549.2:c.897C>T, XM_006720549.1:c.897C>T, XM_006720550.5:c.897C>T, XM_006720550.4:c.897C>T, XM_006720550.3:c.897C>T, XM_006720550.2:c.897C>T, XM_006720550.1:c.897C>T, NM_002530.4:c.897C>T, NM_002530.3:c.897C>T, XM_011521638.4:c.897C>T, XM_011521638.3:c.897C>T, XM_011521638.2:c.897C>T, XM_011521638.1:c.897C>T, XM_017022254.3:c.897C>T, XM_017022254.2:c.897C>T, XM_017022254.1:c.897C>T, XM_017022245.3:c.603C>T, XM_017022245.2:c.603C>T, XM_017022245.1:c.603C>T, XM_017022244.3:c.603C>T, XM_017022244.2:c.603C>T, XM_017022244.1:c.603C>T, XR_001751292.3:n.923C>T, XR_001751292.2:n.1540C>T, XR_001751292.1:n.1512C>T, XM_017022242.3:c.897C>T, XM_017022242.2:c.897C>T, XM_017022242.1:c.897C>T, XM_017022250.3:c.897C>T, XM_017022250.2:c.897C>T, XM_017022250.1:c.897C>T, XR_001751293.3:n.923C>T, XR_001751293.2:n.1535C>T, XR_001751293.1:n.1512C>T, XM_017022240.2:c.897C>T, XM_017022240.1:c.897C>T, NM_001243101.2:c.897C>T, NM_001243101.1:c.897C>T, XM_017022241.2:c.711C>T, XM_017022241.1:c.711C>T, XM_017022243.2:c.603C>T, XM_017022243.1:c.603C>T, XM_024449934.2:c.897C>T, XM_024449934.1:c.897C>T, XR_002957645.2:n.923C>T, XR_002957645.1:n.1536C>T, XM_024449935.2:c.897C>T, XM_024449935.1:c.897C>T, NM_001375810.1:c.897C>T, NM_001375811.1:c.897C>T, NM_001375812.1:c.897C>T, XM_047432602.1:c.897C>T, XM_047432603.1:c.897C>T, NM_001007155.1:c.897C>T, XM_047432604.1:c.897C>T

                            14.

                            rs1464819370 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              A>- [Show Flanks]
                              Chromosome:
                              15:88183484 (GRCh38)
                              15:88726715 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:88183483:A:
                              Gene:
                              NTRK3 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,coding_sequence_variant,frameshift_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              -=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000015.10:g.88183484del, NC_000015.9:g.88726715del, NG_029619.1:g.78248del, NM_001007156.3:c.329del, NM_001007156.2:c.329del, NM_001012338.2:c.329del, NM_001012338.3:c.329del, NM_001320135.2:c.35del, NM_001320135.1:c.35del, NM_001375813.1:c.329del, NM_001375814.1:c.329del, NM_001320134.1:c.329del, XM_006720548.5:c.329del, XM_006720548.4:c.329del, XM_006720548.3:c.329del, XM_006720548.2:c.329del, XM_006720548.1:c.329del, XM_006720545.5:c.329del, XM_006720545.4:c.329del, XM_006720545.3:c.329del, XM_006720545.2:c.329del, XM_006720545.1:c.329del, XM_006720549.5:c.329del, XM_006720549.4:c.329del, XM_006720549.3:c.329del, XM_006720549.2:c.329del, XM_006720549.1:c.329del, XM_006720550.5:c.329del, XM_006720550.4:c.329del, XM_006720550.3:c.329del, XM_006720550.2:c.329del, XM_006720550.1:c.329del, NM_002530.4:c.329del, NM_002530.3:c.329del, XM_011521638.4:c.329del, XM_011521638.3:c.329del, XM_011521638.2:c.329del, XM_011521638.1:c.329del, XM_017022254.3:c.329del, XM_017022254.2:c.329del, XM_017022254.1:c.329del, XM_017022245.3:c.35del, XM_017022245.2:c.35del, XM_017022245.1:c.35del, XM_017022244.3:c.35del, XM_017022244.2:c.35del, XM_017022244.1:c.35del, XR_001751292.3:n.355del, XR_001751292.2:n.972del, XR_001751292.1:n.944del, XM_017022242.3:c.329del, XM_017022242.2:c.329del, XM_017022242.1:c.329del, XM_017022250.3:c.329del, XM_017022250.2:c.329del, XM_017022250.1:c.329del, XR_001751293.3:n.355del, XR_001751293.2:n.967del, XR_001751293.1:n.944del, XM_017022240.2:c.329del, XM_017022240.1:c.329del, NM_001243101.2:c.329del, NM_001243101.1:c.329del, XM_017022241.2:c.143del, XM_017022241.1:c.143del, XM_017022243.2:c.35del, XM_017022243.1:c.35del, XM_024449934.2:c.329del, XM_024449934.1:c.329del, XR_002957645.2:n.355del, XR_002957645.1:n.968del, XM_024449935.2:c.329del, XM_024449935.1:c.329del, NM_001375810.1:c.329del, NM_001375811.1:c.329del, NM_001375812.1:c.329del, XM_047432602.1:c.329del, XM_047432603.1:c.329del, NM_001007155.1:c.329del, XM_047432604.1:c.329del, NP_001007157.1:p.Ile110fs, NP_001012338.1:p.Ile110fs, NP_001307064.1:p.Ile12fs, NP_001362742.1:p.Ile110fs, NP_001362743.1:p.Ile110fs, NP_001307063.1:p.Ile110fs, XP_006720611.1:p.Ile110fs, XP_006720608.1:p.Ile110fs, XP_006720612.1:p.Ile110fs, XP_006720613.1:p.Ile110fs, NP_002521.2:p.Ile110fs, XP_011519940.1:p.Ile110fs, XP_016877743.1:p.Ile110fs, XP_016877734.1:p.Ile12fs, XP_016877733.1:p.Ile12fs, XP_016877731.1:p.Ile110fs, XP_016877739.1:p.Ile110fs, XP_016877729.1:p.Ile110fs, NP_001230030.1:p.Ile110fs, XP_016877730.1:p.Ile48fs, XP_016877732.1:p.Ile12fs, XP_024305702.1:p.Ile110fs, XP_024305703.1:p.Ile110fs, NP_001362739.1:p.Ile110fs, NP_001362740.1:p.Ile110fs, NP_001362741.1:p.Ile110fs, XP_047288558.1:p.Ile110fs, XP_047288559.1:p.Ile110fs, XP_047288560.1:p.Ile110fs

                              15.

                              rs1462618295 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                15:88136539 (GRCh38)
                                15:88679770 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:88136538:G:A,NC_000015.10:88136538:G:C
                                Gene:
                                NTRK3 (Varview)
                                Functional Consequence:
                                missense_variant,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:
                                NC_000015.10:g.88136539G>A, NC_000015.10:g.88136539G>C, NC_000015.9:g.88679770G>A, NC_000015.9:g.88679770G>C, NG_029619.1:g.125193C>T, NG_029619.1:g.125193C>G, NM_001007156.3:c.693C>T, NM_001007156.3:c.693C>G, NM_001007156.2:c.693C>T, NM_001007156.2:c.693C>G, NM_001012338.2:c.693C>T, NM_001012338.2:c.693C>G, NM_001012338.3:c.693C>T, NM_001012338.3:c.693C>G, NM_001320135.2:c.399C>T, NM_001320135.2:c.399C>G, NM_001320135.1:c.399C>T, NM_001320135.1:c.399C>G, NM_001375813.1:c.693C>T, NM_001375813.1:c.693C>G, NM_001375814.1:c.693C>T, NM_001375814.1:c.693C>G, NM_001320134.1:c.693C>T, NM_001320134.1:c.693C>G, XM_006720548.5:c.693C>T, XM_006720548.5:c.693C>G, XM_006720548.4:c.693C>T, XM_006720548.4:c.693C>G, XM_006720548.3:c.693C>T, XM_006720548.3:c.693C>G, XM_006720548.2:c.693C>T, XM_006720548.2:c.693C>G, XM_006720548.1:c.693C>T, XM_006720548.1:c.693C>G, XM_006720545.5:c.693C>T, XM_006720545.5:c.693C>G, XM_006720545.4:c.693C>T, XM_006720545.4:c.693C>G, XM_006720545.3:c.693C>T, XM_006720545.3:c.693C>G, XM_006720545.2:c.693C>T, XM_006720545.2:c.693C>G, XM_006720545.1:c.693C>T, XM_006720545.1:c.693C>G, XM_006720549.5:c.693C>T, XM_006720549.5:c.693C>G, XM_006720549.4:c.693C>T, XM_006720549.4:c.693C>G, XM_006720549.3:c.693C>T, XM_006720549.3:c.693C>G, XM_006720549.2:c.693C>T, XM_006720549.2:c.693C>G, XM_006720549.1:c.693C>T, XM_006720549.1:c.693C>G, XM_006720550.5:c.693C>T, XM_006720550.5:c.693C>G, XM_006720550.4:c.693C>T, XM_006720550.4:c.693C>G, XM_006720550.3:c.693C>T, XM_006720550.3:c.693C>G, XM_006720550.2:c.693C>T, XM_006720550.2:c.693C>G, XM_006720550.1:c.693C>T, XM_006720550.1:c.693C>G, NM_002530.4:c.693C>T, NM_002530.4:c.693C>G, NM_002530.3:c.693C>T, NM_002530.3:c.693C>G, XM_011521638.4:c.693C>T, XM_011521638.4:c.693C>G, XM_011521638.3:c.693C>T, XM_011521638.3:c.693C>G, XM_011521638.2:c.693C>T, XM_011521638.2:c.693C>G, XM_011521638.1:c.693C>T, XM_011521638.1:c.693C>G, XM_017022254.3:c.693C>T, XM_017022254.3:c.693C>G, XM_017022254.2:c.693C>T, XM_017022254.2:c.693C>G, XM_017022254.1:c.693C>T, XM_017022254.1:c.693C>G, XM_017022245.3:c.399C>T, XM_017022245.3:c.399C>G, XM_017022245.2:c.399C>T, XM_017022245.2:c.399C>G, XM_017022245.1:c.399C>T, XM_017022245.1:c.399C>G, XM_017022244.3:c.399C>T, XM_017022244.3:c.399C>G, XM_017022244.2:c.399C>T, XM_017022244.2:c.399C>G, XM_017022244.1:c.399C>T, XM_017022244.1:c.399C>G, XR_001751292.3:n.719C>T, XR_001751292.3:n.719C>G, XR_001751292.2:n.1336C>T, XR_001751292.2:n.1336C>G, XR_001751292.1:n.1308C>T, XR_001751292.1:n.1308C>G, XM_017022242.3:c.693C>T, XM_017022242.3:c.693C>G, XM_017022242.2:c.693C>T, XM_017022242.2:c.693C>G, XM_017022242.1:c.693C>T, XM_017022242.1:c.693C>G, XM_017022250.3:c.693C>T, XM_017022250.3:c.693C>G, XM_017022250.2:c.693C>T, XM_017022250.2:c.693C>G, XM_017022250.1:c.693C>T, XM_017022250.1:c.693C>G, XR_001751293.3:n.719C>T, XR_001751293.3:n.719C>G, XR_001751293.2:n.1331C>T, XR_001751293.2:n.1331C>G, XR_001751293.1:n.1308C>T, XR_001751293.1:n.1308C>G, XM_017022240.2:c.693C>T, XM_017022240.2:c.693C>G, XM_017022240.1:c.693C>T, XM_017022240.1:c.693C>G, NM_001243101.2:c.693C>T, NM_001243101.2:c.693C>G, NM_001243101.1:c.693C>T, NM_001243101.1:c.693C>G, XM_017022241.2:c.507C>T, XM_017022241.2:c.507C>G, XM_017022241.1:c.507C>T, XM_017022241.1:c.507C>G, XM_017022243.2:c.399C>T, XM_017022243.2:c.399C>G, XM_017022243.1:c.399C>T, XM_017022243.1:c.399C>G, XM_024449934.2:c.693C>T, XM_024449934.2:c.693C>G, XM_024449934.1:c.693C>T, XM_024449934.1:c.693C>G, XR_002957645.2:n.719C>T, XR_002957645.2:n.719C>G, XR_002957645.1:n.1332C>T, XR_002957645.1:n.1332C>G, XM_024449935.2:c.693C>T, XM_024449935.2:c.693C>G, XM_024449935.1:c.693C>T, XM_024449935.1:c.693C>G, NM_001375810.1:c.693C>T, NM_001375810.1:c.693C>G, NM_001375811.1:c.693C>T, NM_001375811.1:c.693C>G, NM_001375812.1:c.693C>T, NM_001375812.1:c.693C>G, XM_047432602.1:c.693C>T, XM_047432602.1:c.693C>G, XM_047432603.1:c.693C>T, XM_047432603.1:c.693C>G, NM_001007155.1:c.693C>T, NM_001007155.1:c.693C>G, XM_047432604.1:c.693C>T, XM_047432604.1:c.693C>G, NP_001007157.1:p.Cys231Trp, NP_001012338.1:p.Cys231Trp, NP_001307064.1:p.Cys133Trp, NP_001362742.1:p.Cys231Trp, NP_001362743.1:p.Cys231Trp, NP_001307063.1:p.Cys231Trp, XP_006720611.1:p.Cys231Trp, XP_006720608.1:p.Cys231Trp, XP_006720612.1:p.Cys231Trp, XP_006720613.1:p.Cys231Trp, NP_002521.2:p.Cys231Trp, XP_011519940.1:p.Cys231Trp, XP_016877743.1:p.Cys231Trp, XP_016877734.1:p.Cys133Trp, XP_016877733.1:p.Cys133Trp, XP_016877731.1:p.Cys231Trp, XP_016877739.1:p.Cys231Trp, XP_016877729.1:p.Cys231Trp, NP_001230030.1:p.Cys231Trp, XP_016877730.1:p.Cys169Trp, XP_016877732.1:p.Cys133Trp, XP_024305702.1:p.Cys231Trp, XP_024305703.1:p.Cys231Trp, NP_001362739.1:p.Cys231Trp, NP_001362740.1:p.Cys231Trp, NP_001362741.1:p.Cys231Trp, XP_047288558.1:p.Cys231Trp, XP_047288559.1:p.Cys231Trp, XP_047288560.1:p.Cys231Trp

                                16.

                                rs1461541348 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  15:88137521 (GRCh38)
                                  15:88680752 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:88137520:G:A,NC_000015.10:88137520:G:T
                                  Gene:
                                  NTRK3 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000015.10:g.88137521G>A, NC_000015.10:g.88137521G>T, NC_000015.9:g.88680752G>A, NC_000015.9:g.88680752G>T, NG_029619.1:g.124211C>T, NG_029619.1:g.124211C>A, NM_001007156.3:c.505C>T, NM_001007156.3:c.505C>A, NM_001007156.2:c.505C>T, NM_001007156.2:c.505C>A, NM_001012338.2:c.505C>T, NM_001012338.2:c.505C>A, NM_001012338.3:c.505C>T, NM_001012338.3:c.505C>A, NM_001320135.2:c.211C>T, NM_001320135.2:c.211C>A, NM_001320135.1:c.211C>T, NM_001320135.1:c.211C>A, NM_001375813.1:c.505C>T, NM_001375813.1:c.505C>A, NM_001375814.1:c.505C>T, NM_001375814.1:c.505C>A, NM_001320134.1:c.505C>T, NM_001320134.1:c.505C>A, XM_006720548.5:c.505C>T, XM_006720548.5:c.505C>A, XM_006720548.4:c.505C>T, XM_006720548.4:c.505C>A, XM_006720548.3:c.505C>T, XM_006720548.3:c.505C>A, XM_006720548.2:c.505C>T, XM_006720548.2:c.505C>A, XM_006720548.1:c.505C>T, XM_006720548.1:c.505C>A, XM_006720545.5:c.505C>T, XM_006720545.5:c.505C>A, XM_006720545.4:c.505C>T, XM_006720545.4:c.505C>A, XM_006720545.3:c.505C>T, XM_006720545.3:c.505C>A, XM_006720545.2:c.505C>T, XM_006720545.2:c.505C>A, XM_006720545.1:c.505C>T, XM_006720545.1:c.505C>A, XM_006720549.5:c.505C>T, XM_006720549.5:c.505C>A, XM_006720549.4:c.505C>T, XM_006720549.4:c.505C>A, XM_006720549.3:c.505C>T, XM_006720549.3:c.505C>A, XM_006720549.2:c.505C>T, XM_006720549.2:c.505C>A, XM_006720549.1:c.505C>T, XM_006720549.1:c.505C>A, XM_006720550.5:c.505C>T, XM_006720550.5:c.505C>A, XM_006720550.4:c.505C>T, XM_006720550.4:c.505C>A, XM_006720550.3:c.505C>T, XM_006720550.3:c.505C>A, XM_006720550.2:c.505C>T, XM_006720550.2:c.505C>A, XM_006720550.1:c.505C>T, XM_006720550.1:c.505C>A, NM_002530.4:c.505C>T, NM_002530.4:c.505C>A, NM_002530.3:c.505C>T, NM_002530.3:c.505C>A, XM_011521638.4:c.505C>T, XM_011521638.4:c.505C>A, XM_011521638.3:c.505C>T, XM_011521638.3:c.505C>A, XM_011521638.2:c.505C>T, XM_011521638.2:c.505C>A, XM_011521638.1:c.505C>T, XM_011521638.1:c.505C>A, XM_017022254.3:c.505C>T, XM_017022254.3:c.505C>A, XM_017022254.2:c.505C>T, XM_017022254.2:c.505C>A, XM_017022254.1:c.505C>T, XM_017022254.1:c.505C>A, XM_017022245.3:c.211C>T, XM_017022245.3:c.211C>A, XM_017022245.2:c.211C>T, XM_017022245.2:c.211C>A, XM_017022245.1:c.211C>T, XM_017022245.1:c.211C>A, XM_017022244.3:c.211C>T, XM_017022244.3:c.211C>A, XM_017022244.2:c.211C>T, XM_017022244.2:c.211C>A, XM_017022244.1:c.211C>T, XM_017022244.1:c.211C>A, XR_001751292.3:n.531C>T, XR_001751292.3:n.531C>A, XR_001751292.2:n.1148C>T, XR_001751292.2:n.1148C>A, XR_001751292.1:n.1120C>T, XR_001751292.1:n.1120C>A, XM_017022242.3:c.505C>T, XM_017022242.3:c.505C>A, XM_017022242.2:c.505C>T, XM_017022242.2:c.505C>A, XM_017022242.1:c.505C>T, XM_017022242.1:c.505C>A, XM_017022250.3:c.505C>T, XM_017022250.3:c.505C>A, XM_017022250.2:c.505C>T, XM_017022250.2:c.505C>A, XM_017022250.1:c.505C>T, XM_017022250.1:c.505C>A, XR_001751293.3:n.531C>T, XR_001751293.3:n.531C>A, XR_001751293.2:n.1143C>T, XR_001751293.2:n.1143C>A, XR_001751293.1:n.1120C>T, XR_001751293.1:n.1120C>A, XM_017022240.2:c.505C>T, XM_017022240.2:c.505C>A, XM_017022240.1:c.505C>T, XM_017022240.1:c.505C>A, NM_001243101.2:c.505C>T, NM_001243101.2:c.505C>A, NM_001243101.1:c.505C>T, NM_001243101.1:c.505C>A, XM_017022241.2:c.319C>T, XM_017022241.2:c.319C>A, XM_017022241.1:c.319C>T, XM_017022241.1:c.319C>A, XM_017022243.2:c.211C>T, XM_017022243.2:c.211C>A, XM_017022243.1:c.211C>T, XM_017022243.1:c.211C>A, XM_024449934.2:c.505C>T, XM_024449934.2:c.505C>A, XM_024449934.1:c.505C>T, XM_024449934.1:c.505C>A, XR_002957645.2:n.531C>T, XR_002957645.2:n.531C>A, XR_002957645.1:n.1144C>T, XR_002957645.1:n.1144C>A, XM_024449935.2:c.505C>T, XM_024449935.2:c.505C>A, XM_024449935.1:c.505C>T, XM_024449935.1:c.505C>A, NM_001375810.1:c.505C>T, NM_001375810.1:c.505C>A, NM_001375811.1:c.505C>T, NM_001375811.1:c.505C>A, NM_001375812.1:c.505C>T, NM_001375812.1:c.505C>A, XM_047432602.1:c.505C>T, XM_047432602.1:c.505C>A, XM_047432603.1:c.505C>T, XM_047432603.1:c.505C>A, NM_001007155.1:c.505C>T, NM_001007155.1:c.505C>A, XM_047432604.1:c.505C>T, XM_047432604.1:c.505C>A, NP_001007157.1:p.Arg169Cys, NP_001007157.1:p.Arg169Ser, NP_001012338.1:p.Arg169Cys, NP_001012338.1:p.Arg169Ser, NP_001307064.1:p.Arg71Cys, NP_001307064.1:p.Arg71Ser, NP_001362742.1:p.Arg169Cys, NP_001362742.1:p.Arg169Ser, NP_001362743.1:p.Arg169Cys, NP_001362743.1:p.Arg169Ser, NP_001307063.1:p.Arg169Cys, NP_001307063.1:p.Arg169Ser, XP_006720611.1:p.Arg169Cys, XP_006720611.1:p.Arg169Ser, XP_006720608.1:p.Arg169Cys, XP_006720608.1:p.Arg169Ser, XP_006720612.1:p.Arg169Cys, XP_006720612.1:p.Arg169Ser, XP_006720613.1:p.Arg169Cys, XP_006720613.1:p.Arg169Ser, NP_002521.2:p.Arg169Cys, NP_002521.2:p.Arg169Ser, XP_011519940.1:p.Arg169Cys, XP_011519940.1:p.Arg169Ser, XP_016877743.1:p.Arg169Cys, XP_016877743.1:p.Arg169Ser, XP_016877734.1:p.Arg71Cys, XP_016877734.1:p.Arg71Ser, XP_016877733.1:p.Arg71Cys, XP_016877733.1:p.Arg71Ser, XP_016877731.1:p.Arg169Cys, XP_016877731.1:p.Arg169Ser, XP_016877739.1:p.Arg169Cys, XP_016877739.1:p.Arg169Ser, XP_016877729.1:p.Arg169Cys, XP_016877729.1:p.Arg169Ser, NP_001230030.1:p.Arg169Cys, NP_001230030.1:p.Arg169Ser, XP_016877730.1:p.Arg107Cys, XP_016877730.1:p.Arg107Ser, XP_016877732.1:p.Arg71Cys, XP_016877732.1:p.Arg71Ser, XP_024305702.1:p.Arg169Cys, XP_024305702.1:p.Arg169Ser, XP_024305703.1:p.Arg169Cys, XP_024305703.1:p.Arg169Ser, NP_001362739.1:p.Arg169Cys, NP_001362739.1:p.Arg169Ser, NP_001362740.1:p.Arg169Cys, NP_001362740.1:p.Arg169Ser, NP_001362741.1:p.Arg169Cys, NP_001362741.1:p.Arg169Ser, XP_047288558.1:p.Arg169Cys, XP_047288558.1:p.Arg169Ser, XP_047288559.1:p.Arg169Cys, XP_047288559.1:p.Arg169Ser, XP_047288560.1:p.Arg169Cys, XP_047288560.1:p.Arg169Ser

                                  17.

                                  rs1460680404 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    15:88127218 (GRCh38)
                                    15:88670449 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:88127217:C:T
                                    Gene:
                                    NTRK3 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000015.10:g.88127218C>T, NC_000015.9:g.88670449C>T, NG_029619.1:g.134514G>A, NM_001007156.3:c.1237G>A, NM_001007156.2:c.1237G>A, NM_001012338.2:c.1237G>A, NM_001012338.3:c.1237G>A, NM_001320135.2:c.943G>A, NM_001320135.1:c.943G>A, NM_001375813.1:c.1237G>A, NM_001375814.1:c.1213G>A, NM_001320134.1:c.1237G>A, XM_006720548.5:c.1237G>A, XM_006720548.4:c.1237G>A, XM_006720548.3:c.1237G>A, XM_006720548.2:c.1237G>A, XM_006720548.1:c.1237G>A, XM_006720545.5:c.1237G>A, XM_006720545.4:c.1237G>A, XM_006720545.3:c.1237G>A, XM_006720545.2:c.1237G>A, XM_006720545.1:c.1237G>A, XM_006720549.5:c.1237G>A, XM_006720549.4:c.1237G>A, XM_006720549.3:c.1237G>A, XM_006720549.2:c.1237G>A, XM_006720549.1:c.1237G>A, XM_006720550.5:c.1213G>A, XM_006720550.4:c.1213G>A, XM_006720550.3:c.1213G>A, XM_006720550.2:c.1213G>A, XM_006720550.1:c.1213G>A, NM_002530.4:c.1237G>A, NM_002530.3:c.1237G>A, XM_011521638.4:c.1237G>A, XM_011521638.3:c.1237G>A, XM_011521638.2:c.1237G>A, XM_011521638.1:c.1237G>A, XM_017022254.3:c.1237G>A, XM_017022254.2:c.1237G>A, XM_017022254.1:c.1237G>A, XM_017022245.3:c.943G>A, XM_017022245.2:c.943G>A, XM_017022245.1:c.943G>A, XM_017022244.3:c.943G>A, XM_017022244.2:c.943G>A, XM_017022244.1:c.943G>A, XM_017022251.3:c.130G>A, XM_017022251.2:c.130G>A, XM_017022251.1:c.130G>A, XM_017022252.3:c.106G>A, XM_017022252.2:c.106G>A, XM_017022252.1:c.106G>A, XR_001751292.3:n.1263G>A, XR_001751292.2:n.1880G>A, XR_001751292.1:n.1852G>A, XM_017022242.3:c.1237G>A, XM_017022242.2:c.1237G>A, XM_017022242.1:c.1237G>A, XM_017022250.3:c.1237G>A, XM_017022250.2:c.1237G>A, XM_017022250.1:c.1237G>A, XR_001751293.3:n.1263G>A, XR_001751293.2:n.1875G>A, XR_001751293.1:n.1852G>A, XM_017022240.2:c.1237G>A, XM_017022240.1:c.1237G>A, NM_001243101.2:c.1213G>A, NM_001243101.1:c.1213G>A, XM_017022241.2:c.1051G>A, XM_017022241.1:c.1051G>A, XM_017022243.2:c.943G>A, XM_017022243.1:c.943G>A, XM_024449934.2:c.1237G>A, XM_024449934.1:c.1237G>A, XR_002957645.2:n.1239G>A, XR_002957645.1:n.1852G>A, XM_024449935.2:c.1237G>A, XM_024449935.1:c.1237G>A, NM_001375810.1:c.1237G>A, NM_001375811.1:c.1237G>A, NM_001375812.1:c.1213G>A, XM_047432602.1:c.1213G>A, XM_047432603.1:c.1213G>A, NM_001007155.1:c.1237G>A, XM_047432604.1:c.1213G>A, NP_001007157.1:p.Val413Met, NP_001012338.1:p.Val413Met, NP_001307064.1:p.Val315Met, NP_001362742.1:p.Val413Met, NP_001362743.1:p.Val405Met, NP_001307063.1:p.Val413Met, XP_006720611.1:p.Val413Met, XP_006720608.1:p.Val413Met, XP_006720612.1:p.Val413Met, XP_006720613.1:p.Val405Met, NP_002521.2:p.Val413Met, XP_011519940.1:p.Val413Met, XP_016877743.1:p.Val413Met, XP_016877734.1:p.Val315Met, XP_016877733.1:p.Val315Met, XP_016877740.1:p.Val44Met, XP_016877741.1:p.Val36Met, XP_016877731.1:p.Val413Met, XP_016877739.1:p.Val413Met, XP_016877729.1:p.Val413Met, NP_001230030.1:p.Val405Met, XP_016877730.1:p.Val351Met, XP_016877732.1:p.Val315Met, XP_024305702.1:p.Val413Met, XP_024305703.1:p.Val413Met, NP_001362739.1:p.Val413Met, NP_001362740.1:p.Val413Met, NP_001362741.1:p.Val405Met, XP_047288558.1:p.Val405Met, XP_047288559.1:p.Val405Met, XP_047288560.1:p.Val405Met

                                    18.

                                    rs1458667131 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      15:88184293 (GRCh38)
                                      15:88727524 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:88184292:T:C
                                      Gene:
                                      NTRK3 (Varview)
                                      Functional Consequence:
                                      5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000015.10:g.88184293T>C, NC_000015.9:g.88727524T>C, NG_029619.1:g.77439A>G, NM_001007156.3:c.255A>G, NM_001007156.2:c.255A>G, NM_001012338.2:c.255A>G, NM_001012338.3:c.255A>G, NM_001320135.2:c.-40A>G, NM_001320135.1:c.-40A>G, NM_001375813.1:c.255A>G, NM_001375814.1:c.255A>G, NM_001320134.1:c.255A>G, XM_006720548.5:c.255A>G, XM_006720548.4:c.255A>G, XM_006720548.3:c.255A>G, XM_006720548.2:c.255A>G, XM_006720548.1:c.255A>G, XM_006720545.5:c.255A>G, XM_006720545.4:c.255A>G, XM_006720545.3:c.255A>G, XM_006720545.2:c.255A>G, XM_006720545.1:c.255A>G, XM_006720549.5:c.255A>G, XM_006720549.4:c.255A>G, XM_006720549.3:c.255A>G, XM_006720549.2:c.255A>G, XM_006720549.1:c.255A>G, XM_006720550.5:c.255A>G, XM_006720550.4:c.255A>G, XM_006720550.3:c.255A>G, XM_006720550.2:c.255A>G, XM_006720550.1:c.255A>G, NM_002530.4:c.255A>G, NM_002530.3:c.255A>G, XM_011521638.4:c.255A>G, XM_011521638.3:c.255A>G, XM_011521638.2:c.255A>G, XM_011521638.1:c.255A>G, XM_017022254.3:c.255A>G, XM_017022254.2:c.255A>G, XM_017022254.1:c.255A>G, XM_017022245.3:c.-40A>G, XM_017022245.2:c.-40A>G, XM_017022245.1:c.-40A>G, XM_017022244.3:c.-40A>G, XM_017022244.2:c.-40A>G, XM_017022244.1:c.-40A>G, XR_001751292.3:n.281A>G, XR_001751292.2:n.898A>G, XR_001751292.1:n.870A>G, XM_017022242.3:c.255A>G, XM_017022242.2:c.255A>G, XM_017022242.1:c.255A>G, XM_017022250.3:c.255A>G, XM_017022250.2:c.255A>G, XM_017022250.1:c.255A>G, XR_001751293.3:n.281A>G, XR_001751293.2:n.893A>G, XR_001751293.1:n.870A>G, XM_017022240.2:c.255A>G, XM_017022240.1:c.255A>G, NM_001243101.2:c.255A>G, NM_001243101.1:c.255A>G, XM_017022241.2:c.69A>G, XM_017022241.1:c.69A>G, XM_017022243.2:c.-40A>G, XM_017022243.1:c.-40A>G, XM_024449934.2:c.255A>G, XM_024449934.1:c.255A>G, XR_002957645.2:n.281A>G, XR_002957645.1:n.894A>G, XM_024449935.2:c.255A>G, XM_024449935.1:c.255A>G, NM_001375810.1:c.255A>G, NM_001375811.1:c.255A>G, NM_001375812.1:c.255A>G, XM_047432602.1:c.255A>G, XM_047432603.1:c.255A>G, NM_001007155.1:c.255A>G, XM_047432604.1:c.255A>G, NP_001007157.1:p.Ile85Met, NP_001012338.1:p.Ile85Met, NP_001362742.1:p.Ile85Met, NP_001362743.1:p.Ile85Met, NP_001307063.1:p.Ile85Met, XP_006720611.1:p.Ile85Met, XP_006720608.1:p.Ile85Met, XP_006720612.1:p.Ile85Met, XP_006720613.1:p.Ile85Met, NP_002521.2:p.Ile85Met, XP_011519940.1:p.Ile85Met, XP_016877743.1:p.Ile85Met, XP_016877731.1:p.Ile85Met, XP_016877739.1:p.Ile85Met, XP_016877729.1:p.Ile85Met, NP_001230030.1:p.Ile85Met, XP_016877730.1:p.Ile23Met, XP_024305702.1:p.Ile85Met, XP_024305703.1:p.Ile85Met, NP_001362739.1:p.Ile85Met, NP_001362740.1:p.Ile85Met, NP_001362741.1:p.Ile85Met, XP_047288558.1:p.Ile85Met, XP_047288559.1:p.Ile85Met, XP_047288560.1:p.Ile85Met

                                      19.

                                      rs1457985391 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,C,G [Show Flanks]
                                        Chromosome:
                                        15:88135344 (GRCh38)
                                        15:88678575 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:88135343:T:A,NC_000015.10:88135343:T:C,NC_000015.10:88135343:T:G
                                        Gene:
                                        NTRK3 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        C=0.000007/1 (GnomAD)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000015.10:g.88135344T>A, NC_000015.10:g.88135344T>C, NC_000015.10:g.88135344T>G, NC_000015.9:g.88678575T>A, NC_000015.9:g.88678575T>C, NC_000015.9:g.88678575T>G, NG_029619.1:g.126388A>T, NG_029619.1:g.126388A>G, NG_029619.1:g.126388A>C, NM_001007156.3:c.961A>T, NM_001007156.3:c.961A>G, NM_001007156.3:c.961A>C, NM_001007156.2:c.961A>T, NM_001007156.2:c.961A>G, NM_001007156.2:c.961A>C, NM_001012338.2:c.961A>T, NM_001012338.2:c.961A>G, NM_001012338.2:c.961A>C, NM_001012338.3:c.961A>T, NM_001012338.3:c.961A>G, NM_001012338.3:c.961A>C, NM_001320135.2:c.667A>T, NM_001320135.2:c.667A>G, NM_001320135.2:c.667A>C, NM_001320135.1:c.667A>T, NM_001320135.1:c.667A>G, NM_001320135.1:c.667A>C, NM_001375813.1:c.961A>T, NM_001375813.1:c.961A>G, NM_001375813.1:c.961A>C, NM_001375814.1:c.961A>T, NM_001375814.1:c.961A>G, NM_001375814.1:c.961A>C, NM_001320134.1:c.961A>T, NM_001320134.1:c.961A>G, NM_001320134.1:c.961A>C, XM_006720548.5:c.961A>T, XM_006720548.5:c.961A>G, XM_006720548.5:c.961A>C, XM_006720548.4:c.961A>T, XM_006720548.4:c.961A>G, XM_006720548.4:c.961A>C, XM_006720548.3:c.961A>T, XM_006720548.3:c.961A>G, XM_006720548.3:c.961A>C, XM_006720548.2:c.961A>T, XM_006720548.2:c.961A>G, XM_006720548.2:c.961A>C, XM_006720548.1:c.961A>T, XM_006720548.1:c.961A>G, XM_006720548.1:c.961A>C, XM_006720545.5:c.961A>T, XM_006720545.5:c.961A>G, XM_006720545.5:c.961A>C, XM_006720545.4:c.961A>T, XM_006720545.4:c.961A>G, XM_006720545.4:c.961A>C, XM_006720545.3:c.961A>T, XM_006720545.3:c.961A>G, XM_006720545.3:c.961A>C, XM_006720545.2:c.961A>T, XM_006720545.2:c.961A>G, XM_006720545.2:c.961A>C, XM_006720545.1:c.961A>T, XM_006720545.1:c.961A>G, XM_006720545.1:c.961A>C, XM_006720549.5:c.961A>T, XM_006720549.5:c.961A>G, XM_006720549.5:c.961A>C, XM_006720549.4:c.961A>T, XM_006720549.4:c.961A>G, XM_006720549.4:c.961A>C, XM_006720549.3:c.961A>T, XM_006720549.3:c.961A>G, XM_006720549.3:c.961A>C, XM_006720549.2:c.961A>T, XM_006720549.2:c.961A>G, XM_006720549.2:c.961A>C, XM_006720549.1:c.961A>T, XM_006720549.1:c.961A>G, XM_006720549.1:c.961A>C, XM_006720550.5:c.961A>T, XM_006720550.5:c.961A>G, XM_006720550.5:c.961A>C, XM_006720550.4:c.961A>T, XM_006720550.4:c.961A>G, XM_006720550.4:c.961A>C, XM_006720550.3:c.961A>T, XM_006720550.3:c.961A>G, XM_006720550.3:c.961A>C, XM_006720550.2:c.961A>T, XM_006720550.2:c.961A>G, XM_006720550.2:c.961A>C, XM_006720550.1:c.961A>T, XM_006720550.1:c.961A>G, XM_006720550.1:c.961A>C, NM_002530.4:c.961A>T, NM_002530.4:c.961A>G, NM_002530.4:c.961A>C, NM_002530.3:c.961A>T, NM_002530.3:c.961A>G, NM_002530.3:c.961A>C, XM_011521638.4:c.961A>T, XM_011521638.4:c.961A>G, XM_011521638.4:c.961A>C, XM_011521638.3:c.961A>T, XM_011521638.3:c.961A>G, XM_011521638.3:c.961A>C, XM_011521638.2:c.961A>T, XM_011521638.2:c.961A>G, XM_011521638.2:c.961A>C, XM_011521638.1:c.961A>T, XM_011521638.1:c.961A>G, XM_011521638.1:c.961A>C, XM_017022254.3:c.961A>T, XM_017022254.3:c.961A>G, XM_017022254.3:c.961A>C, XM_017022254.2:c.961A>T, XM_017022254.2:c.961A>G, XM_017022254.2:c.961A>C, XM_017022254.1:c.961A>T, XM_017022254.1:c.961A>G, XM_017022254.1:c.961A>C, XM_017022245.3:c.667A>T, XM_017022245.3:c.667A>G, XM_017022245.3:c.667A>C, XM_017022245.2:c.667A>T, XM_017022245.2:c.667A>G, XM_017022245.2:c.667A>C, XM_017022245.1:c.667A>T, XM_017022245.1:c.667A>G, XM_017022245.1:c.667A>C, XM_017022244.3:c.667A>T, XM_017022244.3:c.667A>G, XM_017022244.3:c.667A>C, XM_017022244.2:c.667A>T, XM_017022244.2:c.667A>G, XM_017022244.2:c.667A>C, XM_017022244.1:c.667A>T, XM_017022244.1:c.667A>G, XM_017022244.1:c.667A>C, XR_001751292.3:n.987A>T, XR_001751292.3:n.987A>G, XR_001751292.3:n.987A>C, XR_001751292.2:n.1604A>T, XR_001751292.2:n.1604A>G, XR_001751292.2:n.1604A>C, XR_001751292.1:n.1576A>T, XR_001751292.1:n.1576A>G, XR_001751292.1:n.1576A>C, XM_017022242.3:c.961A>T, XM_017022242.3:c.961A>G, XM_017022242.3:c.961A>C, XM_017022242.2:c.961A>T, XM_017022242.2:c.961A>G, XM_017022242.2:c.961A>C, XM_017022242.1:c.961A>T, XM_017022242.1:c.961A>G, XM_017022242.1:c.961A>C, XM_017022250.3:c.961A>T, XM_017022250.3:c.961A>G, XM_017022250.3:c.961A>C, XM_017022250.2:c.961A>T, XM_017022250.2:c.961A>G, XM_017022250.2:c.961A>C, XM_017022250.1:c.961A>T, XM_017022250.1:c.961A>G, XM_017022250.1:c.961A>C, XR_001751293.3:n.987A>T, XR_001751293.3:n.987A>G, XR_001751293.3:n.987A>C, XR_001751293.2:n.1599A>T, XR_001751293.2:n.1599A>G, XR_001751293.2:n.1599A>C, XR_001751293.1:n.1576A>T, XR_001751293.1:n.1576A>G, XR_001751293.1:n.1576A>C, XM_017022240.2:c.961A>T, XM_017022240.2:c.961A>G, XM_017022240.2:c.961A>C, XM_017022240.1:c.961A>T, XM_017022240.1:c.961A>G, XM_017022240.1:c.961A>C, NM_001243101.2:c.961A>T, NM_001243101.2:c.961A>G, NM_001243101.2:c.961A>C, NM_001243101.1:c.961A>T, NM_001243101.1:c.961A>G, NM_001243101.1:c.961A>C, XM_017022241.2:c.775A>T, XM_017022241.2:c.775A>G, XM_017022241.2:c.775A>C, XM_017022241.1:c.775A>T, XM_017022241.1:c.775A>G, XM_017022241.1:c.775A>C, XM_017022243.2:c.667A>T, XM_017022243.2:c.667A>G, XM_017022243.2:c.667A>C, XM_017022243.1:c.667A>T, XM_017022243.1:c.667A>G, XM_017022243.1:c.667A>C, XM_024449934.2:c.961A>T, XM_024449934.2:c.961A>G, XM_024449934.2:c.961A>C, XM_024449934.1:c.961A>T, XM_024449934.1:c.961A>G, XM_024449934.1:c.961A>C, XR_002957645.2:n.987A>T, XR_002957645.2:n.987A>G, XR_002957645.2:n.987A>C, XR_002957645.1:n.1600A>T, XR_002957645.1:n.1600A>G, XR_002957645.1:n.1600A>C, XM_024449935.2:c.961A>T, XM_024449935.2:c.961A>G, XM_024449935.2:c.961A>C, XM_024449935.1:c.961A>T, XM_024449935.1:c.961A>G, XM_024449935.1:c.961A>C, NM_001375810.1:c.961A>T, NM_001375810.1:c.961A>G, NM_001375810.1:c.961A>C, NM_001375811.1:c.961A>T, NM_001375811.1:c.961A>G, NM_001375811.1:c.961A>C, NM_001375812.1:c.961A>T, NM_001375812.1:c.961A>G, NM_001375812.1:c.961A>C, XM_047432602.1:c.961A>T, XM_047432602.1:c.961A>G, XM_047432602.1:c.961A>C, XM_047432603.1:c.961A>T, XM_047432603.1:c.961A>G, XM_047432603.1:c.961A>C, NM_001007155.1:c.961A>T, NM_001007155.1:c.961A>G, NM_001007155.1:c.961A>C, XM_047432604.1:c.961A>T, XM_047432604.1:c.961A>G, XM_047432604.1:c.961A>C, NP_001007157.1:p.Ile321Phe, NP_001007157.1:p.Ile321Val, NP_001007157.1:p.Ile321Leu, NP_001012338.1:p.Ile321Phe, NP_001012338.1:p.Ile321Val, NP_001012338.1:p.Ile321Leu, NP_001307064.1:p.Ile223Phe, NP_001307064.1:p.Ile223Val, NP_001307064.1:p.Ile223Leu, NP_001362742.1:p.Ile321Phe, NP_001362742.1:p.Ile321Val, NP_001362742.1:p.Ile321Leu, NP_001362743.1:p.Ile321Phe, NP_001362743.1:p.Ile321Val, NP_001362743.1:p.Ile321Leu, NP_001307063.1:p.Ile321Phe, NP_001307063.1:p.Ile321Val, NP_001307063.1:p.Ile321Leu, XP_006720611.1:p.Ile321Phe, XP_006720611.1:p.Ile321Val, XP_006720611.1:p.Ile321Leu, XP_006720608.1:p.Ile321Phe, XP_006720608.1:p.Ile321Val, XP_006720608.1:p.Ile321Leu, XP_006720612.1:p.Ile321Phe, XP_006720612.1:p.Ile321Val, XP_006720612.1:p.Ile321Leu, XP_006720613.1:p.Ile321Phe, XP_006720613.1:p.Ile321Val, XP_006720613.1:p.Ile321Leu, NP_002521.2:p.Ile321Phe, NP_002521.2:p.Ile321Val, NP_002521.2:p.Ile321Leu, XP_011519940.1:p.Ile321Phe, XP_011519940.1:p.Ile321Val, XP_011519940.1:p.Ile321Leu, XP_016877743.1:p.Ile321Phe, XP_016877743.1:p.Ile321Val, XP_016877743.1:p.Ile321Leu, XP_016877734.1:p.Ile223Phe, XP_016877734.1:p.Ile223Val, XP_016877734.1:p.Ile223Leu, XP_016877733.1:p.Ile223Phe, XP_016877733.1:p.Ile223Val, XP_016877733.1:p.Ile223Leu, XP_016877731.1:p.Ile321Phe, XP_016877731.1:p.Ile321Val, XP_016877731.1:p.Ile321Leu, XP_016877739.1:p.Ile321Phe, XP_016877739.1:p.Ile321Val, XP_016877739.1:p.Ile321Leu, XP_016877729.1:p.Ile321Phe, XP_016877729.1:p.Ile321Val, XP_016877729.1:p.Ile321Leu, NP_001230030.1:p.Ile321Phe, NP_001230030.1:p.Ile321Val, NP_001230030.1:p.Ile321Leu, XP_016877730.1:p.Ile259Phe, XP_016877730.1:p.Ile259Val, XP_016877730.1:p.Ile259Leu, XP_016877732.1:p.Ile223Phe, XP_016877732.1:p.Ile223Val, XP_016877732.1:p.Ile223Leu, XP_024305702.1:p.Ile321Phe, XP_024305702.1:p.Ile321Val, XP_024305702.1:p.Ile321Leu, XP_024305703.1:p.Ile321Phe, XP_024305703.1:p.Ile321Val, XP_024305703.1:p.Ile321Leu, NP_001362739.1:p.Ile321Phe, NP_001362739.1:p.Ile321Val, NP_001362739.1:p.Ile321Leu, NP_001362740.1:p.Ile321Phe, NP_001362740.1:p.Ile321Val, NP_001362740.1:p.Ile321Leu, NP_001362741.1:p.Ile321Phe, NP_001362741.1:p.Ile321Val, NP_001362741.1:p.Ile321Leu, XP_047288558.1:p.Ile321Phe, XP_047288558.1:p.Ile321Val, XP_047288558.1:p.Ile321Leu, XP_047288559.1:p.Ile321Phe, XP_047288559.1:p.Ile321Val, XP_047288559.1:p.Ile321Leu, XP_047288560.1:p.Ile321Phe, XP_047288560.1:p.Ile321Val, XP_047288560.1:p.Ile321Leu

                                        20.

                                        rs1456613305 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          15:88135995 (GRCh38)
                                          15:88679226 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:88135994:C:A
                                          Gene:
                                          NTRK3 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000015.10:g.88135995C>A, NC_000015.9:g.88679226C>A, NG_029619.1:g.125737G>T, NM_001007156.3:c.811G>T, NM_001007156.2:c.811G>T, NM_001012338.2:c.811G>T, NM_001012338.3:c.811G>T, NM_001320135.2:c.517G>T, NM_001320135.1:c.517G>T, NM_001375813.1:c.811G>T, NM_001375814.1:c.811G>T, NM_001320134.1:c.811G>T, XM_006720548.5:c.811G>T, XM_006720548.4:c.811G>T, XM_006720548.3:c.811G>T, XM_006720548.2:c.811G>T, XM_006720548.1:c.811G>T, XM_006720545.5:c.811G>T, XM_006720545.4:c.811G>T, XM_006720545.3:c.811G>T, XM_006720545.2:c.811G>T, XM_006720545.1:c.811G>T, XM_006720549.5:c.811G>T, XM_006720549.4:c.811G>T, XM_006720549.3:c.811G>T, XM_006720549.2:c.811G>T, XM_006720549.1:c.811G>T, XM_006720550.5:c.811G>T, XM_006720550.4:c.811G>T, XM_006720550.3:c.811G>T, XM_006720550.2:c.811G>T, XM_006720550.1:c.811G>T, NM_002530.4:c.811G>T, NM_002530.3:c.811G>T, XM_011521638.4:c.811G>T, XM_011521638.3:c.811G>T, XM_011521638.2:c.811G>T, XM_011521638.1:c.811G>T, XM_017022254.3:c.811G>T, XM_017022254.2:c.811G>T, XM_017022254.1:c.811G>T, XM_017022245.3:c.517G>T, XM_017022245.2:c.517G>T, XM_017022245.1:c.517G>T, XM_017022244.3:c.517G>T, XM_017022244.2:c.517G>T, XM_017022244.1:c.517G>T, XR_001751292.3:n.837G>T, XR_001751292.2:n.1454G>T, XR_001751292.1:n.1426G>T, XM_017022242.3:c.811G>T, XM_017022242.2:c.811G>T, XM_017022242.1:c.811G>T, XM_017022250.3:c.811G>T, XM_017022250.2:c.811G>T, XM_017022250.1:c.811G>T, XR_001751293.3:n.837G>T, XR_001751293.2:n.1449G>T, XR_001751293.1:n.1426G>T, XM_017022240.2:c.811G>T, XM_017022240.1:c.811G>T, NM_001243101.2:c.811G>T, NM_001243101.1:c.811G>T, XM_017022241.2:c.625G>T, XM_017022241.1:c.625G>T, XM_017022243.2:c.517G>T, XM_017022243.1:c.517G>T, XM_024449934.2:c.811G>T, XM_024449934.1:c.811G>T, XR_002957645.2:n.837G>T, XR_002957645.1:n.1450G>T, XM_024449935.2:c.811G>T, XM_024449935.1:c.811G>T, NM_001375810.1:c.811G>T, NM_001375811.1:c.811G>T, NM_001375812.1:c.811G>T, XM_047432602.1:c.811G>T, XM_047432603.1:c.811G>T, NM_001007155.1:c.811G>T, XM_047432604.1:c.811G>T, NP_001007157.1:p.Val271Leu, NP_001012338.1:p.Val271Leu, NP_001307064.1:p.Val173Leu, NP_001362742.1:p.Val271Leu, NP_001362743.1:p.Val271Leu, NP_001307063.1:p.Val271Leu, XP_006720611.1:p.Val271Leu, XP_006720608.1:p.Val271Leu, XP_006720612.1:p.Val271Leu, XP_006720613.1:p.Val271Leu, NP_002521.2:p.Val271Leu, XP_011519940.1:p.Val271Leu, XP_016877743.1:p.Val271Leu, XP_016877734.1:p.Val173Leu, XP_016877733.1:p.Val173Leu, XP_016877731.1:p.Val271Leu, XP_016877739.1:p.Val271Leu, XP_016877729.1:p.Val271Leu, NP_001230030.1:p.Val271Leu, XP_016877730.1:p.Val209Leu, XP_016877732.1:p.Val173Leu, XP_024305702.1:p.Val271Leu, XP_024305703.1:p.Val271Leu, NP_001362739.1:p.Val271Leu, NP_001362740.1:p.Val271Leu, NP_001362741.1:p.Val271Leu, XP_047288558.1:p.Val271Leu, XP_047288559.1:p.Val271Leu, XP_047288560.1:p.Val271Leu

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