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Items: 1 to 20 of 233

1.

rs1490320506 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    17:74703083 (GRCh38)
    17:72699222 (GRCh37)
    Canonical SPDI:
    NC_000017.11:74703082:T:C
    Gene:
    CD300LF (Varview), RAB37 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000007/1 (GnomAD)
    C=0.000008/2 (TOPMED)
    HGVS:
    NC_000017.11:g.74703083T>C, NC_000017.10:g.72699222T>C, NM_139018.5:c.398A>G, NM_139018.4:c.398A>G, NM_139018.3:c.398A>G, XM_017024212.3:c.455A>G, XM_017024212.2:c.455A>G, XM_017024212.1:c.455A>G, NM_001289086.2:c.452A>G, NM_001289086.1:c.452A>G, NM_001289085.2:c.407A>G, NM_001289085.1:c.407A>G, NM_001289082.2:c.407A>G, NM_001289082.1:c.407A>G, NM_001289083.2:c.398A>G, NM_001289083.1:c.398A>G, NM_001289084.2:c.443A>G, NM_001289084.1:c.443A>G, NR_110298.2:n.629A>G, NR_110298.1:n.706A>G, NM_001289087.2:c.398A>G, NM_001289087.1:c.398A>G, XM_047435407.1:c.464A>G, XM_047435409.1:c.464A>G, XM_047435410.1:c.452A>G, XM_047435412.1:c.407A>G, XM_047435415.1:c.407A>G, XM_047435416.1:c.464A>G, XM_047435408.1:c.455A>G, XM_047435411.1:c.443A>G, XM_047435417.1:c.407A>G, XM_047435413.1:c.398A>G, XM_047435419.1:c.464A>G, XM_047435418.1:c.464A>G, XM_047435420.1:c.464A>G, XM_047435422.1:c.407A>G, XM_047435421.1:c.452A>G, NP_620587.2:p.Glu133Gly, XP_016879701.1:p.Glu152Gly, NP_001276015.1:p.Glu151Gly, NP_001276014.1:p.Glu136Gly, NP_001276011.1:p.Glu136Gly, NP_001276012.1:p.Glu133Gly, NP_001276013.1:p.Glu148Gly, NP_001276016.1:p.Glu133Gly, XP_047291363.1:p.Glu155Gly, XP_047291365.1:p.Glu155Gly, XP_047291366.1:p.Glu151Gly, XP_047291368.1:p.Glu136Gly, XP_047291371.1:p.Glu136Gly, XP_047291372.1:p.Glu155Gly, XP_047291364.1:p.Glu152Gly, XP_047291367.1:p.Glu148Gly, XP_047291373.1:p.Glu136Gly, XP_047291369.1:p.Glu133Gly, XP_047291375.1:p.Glu155Gly, XP_047291374.1:p.Glu155Gly, XP_047291376.1:p.Glu155Gly, XP_047291378.1:p.Glu136Gly, XP_047291377.1:p.Glu151Gly

    2.

    rs1490245591 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->G [Show Flanks]
      Chromosome:
      17:74704689 (GRCh38)
      17:72700829 (GRCh37)
      Canonical SPDI:
      NC_000017.11:74704689:G:GG
      Gene:
      CD300LF (Varview), RAB37 (Varview)
      Functional Consequence:
      frameshift_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000017.11:g.74704690dup, NC_000017.10:g.72700829dup, NM_139018.5:c.170dup, NM_139018.4:c.170dup, NM_139018.3:c.170dup, XM_017024212.3:c.170dup, XM_017024212.2:c.170dup, XM_017024212.1:c.170dup, NM_001289086.2:c.179dup, NM_001289086.1:c.179dup, NM_001289085.2:c.179dup, NM_001289085.1:c.179dup, NM_001289082.2:c.179dup, NM_001289082.1:c.179dup, NM_001289083.2:c.170dup, NM_001289083.1:c.170dup, NM_001289084.2:c.170dup, NM_001289084.1:c.170dup, NR_110298.2:n.401dup, NR_110298.1:n.478dup, NM_001289087.2:c.170dup, NM_001289087.1:c.170dup, XM_047435407.1:c.179dup, XM_047435409.1:c.179dup, XM_047435410.1:c.179dup, XM_047435412.1:c.179dup, XM_047435415.1:c.179dup, XM_047435416.1:c.179dup, XM_047435408.1:c.170dup, XM_047435411.1:c.170dup, XM_047435417.1:c.179dup, XM_047435413.1:c.170dup, XM_047435419.1:c.179dup, XM_047435418.1:c.179dup, XM_047435420.1:c.179dup, XM_047435422.1:c.179dup, XM_047435421.1:c.179dup, NP_620587.2:p.Ile58fs, XP_016879701.1:p.Ile58fs, NP_001276015.1:p.Ile61fs, NP_001276014.1:p.Ile61fs, NP_001276011.1:p.Ile61fs, NP_001276012.1:p.Ile58fs, NP_001276013.1:p.Ile58fs, NP_001276016.1:p.Ile58fs, XP_047291363.1:p.Ile61fs, XP_047291365.1:p.Ile61fs, XP_047291366.1:p.Ile61fs, XP_047291368.1:p.Ile61fs, XP_047291371.1:p.Ile61fs, XP_047291372.1:p.Ile61fs, XP_047291364.1:p.Ile58fs, XP_047291367.1:p.Ile58fs, XP_047291373.1:p.Ile61fs, XP_047291369.1:p.Ile58fs, XP_047291375.1:p.Ile61fs, XP_047291374.1:p.Ile61fs, XP_047291376.1:p.Ile61fs, XP_047291378.1:p.Ile61fs, XP_047291377.1:p.Ile61fs

      3.

      rs1481363094 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        17:74704669 (GRCh38)
        17:72700808 (GRCh37)
        Canonical SPDI:
        NC_000017.11:74704668:A:G
        Gene:
        CD300LF (Varview), RAB37 (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        NC_000017.11:g.74704669A>G, NC_000017.10:g.72700808A>G, NM_139018.5:c.191T>C, NM_139018.4:c.191T>C, NM_139018.3:c.191T>C, XM_017024212.3:c.191T>C, XM_017024212.2:c.191T>C, XM_017024212.1:c.191T>C, NM_001289086.2:c.200T>C, NM_001289086.1:c.200T>C, NM_001289085.2:c.200T>C, NM_001289085.1:c.200T>C, NM_001289082.2:c.200T>C, NM_001289082.1:c.200T>C, NM_001289083.2:c.191T>C, NM_001289083.1:c.191T>C, NM_001289084.2:c.191T>C, NM_001289084.1:c.191T>C, NR_110298.2:n.422T>C, NR_110298.1:n.499T>C, NM_001289087.2:c.191T>C, NM_001289087.1:c.191T>C, XM_047435407.1:c.200T>C, XM_047435409.1:c.200T>C, XM_047435410.1:c.200T>C, XM_047435412.1:c.200T>C, XM_047435415.1:c.200T>C, XM_047435416.1:c.200T>C, XM_047435408.1:c.191T>C, XM_047435411.1:c.191T>C, XM_047435417.1:c.200T>C, XM_047435413.1:c.191T>C, XM_047435419.1:c.200T>C, XM_047435418.1:c.200T>C, XM_047435420.1:c.200T>C, XM_047435422.1:c.200T>C, XM_047435421.1:c.200T>C, NP_620587.2:p.Ile64Thr, XP_016879701.1:p.Ile64Thr, NP_001276015.1:p.Ile67Thr, NP_001276014.1:p.Ile67Thr, NP_001276011.1:p.Ile67Thr, NP_001276012.1:p.Ile64Thr, NP_001276013.1:p.Ile64Thr, NP_001276016.1:p.Ile64Thr, XP_047291363.1:p.Ile67Thr, XP_047291365.1:p.Ile67Thr, XP_047291366.1:p.Ile67Thr, XP_047291368.1:p.Ile67Thr, XP_047291371.1:p.Ile67Thr, XP_047291372.1:p.Ile67Thr, XP_047291364.1:p.Ile64Thr, XP_047291367.1:p.Ile64Thr, XP_047291373.1:p.Ile67Thr, XP_047291369.1:p.Ile64Thr, XP_047291375.1:p.Ile67Thr, XP_047291374.1:p.Ile67Thr, XP_047291376.1:p.Ile67Thr, XP_047291378.1:p.Ile67Thr, XP_047291377.1:p.Ile67Thr

        4.

        rs1480115213 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          17:74704617 (GRCh38)
          17:72700756 (GRCh37)
          Canonical SPDI:
          NC_000017.11:74704616:G:C
          Gene:
          CD300LF (Varview), RAB37 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0./0 (GnomAD)
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000017.11:g.74704617G>C, NC_000017.10:g.72700756G>C, NM_139018.5:c.243C>G, NM_139018.4:c.243C>G, NM_139018.3:c.243C>G, XM_017024212.3:c.243C>G, XM_017024212.2:c.243C>G, XM_017024212.1:c.243C>G, NM_001289086.2:c.252C>G, NM_001289086.1:c.252C>G, NM_001289085.2:c.252C>G, NM_001289085.1:c.252C>G, NM_001289082.2:c.252C>G, NM_001289082.1:c.252C>G, NM_001289083.2:c.243C>G, NM_001289083.1:c.243C>G, NM_001289084.2:c.243C>G, NM_001289084.1:c.243C>G, NR_110298.2:n.474C>G, NR_110298.1:n.551C>G, NM_001289087.2:c.243C>G, NM_001289087.1:c.243C>G, XM_047435407.1:c.252C>G, XM_047435409.1:c.252C>G, XM_047435410.1:c.252C>G, XM_047435412.1:c.252C>G, XM_047435415.1:c.252C>G, XM_047435416.1:c.252C>G, XM_047435408.1:c.243C>G, XM_047435411.1:c.243C>G, XM_047435417.1:c.252C>G, XM_047435413.1:c.243C>G, XM_047435419.1:c.252C>G, XM_047435418.1:c.252C>G, XM_047435420.1:c.252C>G, XM_047435422.1:c.252C>G, XM_047435421.1:c.252C>G

          5.

          rs1473250219 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            17:74703053 (GRCh38)
            17:72699192 (GRCh37)
            Canonical SPDI:
            NC_000017.11:74703052:C:T
            Gene:
            CD300LF (Varview), RAB37 (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000017.11:g.74703053C>T, NC_000017.10:g.72699192C>T, NM_139018.5:c.428G>A, NM_139018.4:c.428G>A, NM_139018.3:c.428G>A, XM_017024212.3:c.485G>A, XM_017024212.2:c.485G>A, XM_017024212.1:c.485G>A, NM_001289086.2:c.482G>A, NM_001289086.1:c.482G>A, NM_001289085.2:c.437G>A, NM_001289085.1:c.437G>A, NM_001289082.2:c.437G>A, NM_001289082.1:c.437G>A, NM_001289083.2:c.428G>A, NM_001289083.1:c.428G>A, NM_001289084.2:c.473G>A, NM_001289084.1:c.473G>A, NR_110298.2:n.659G>A, NR_110298.1:n.736G>A, NM_001289087.2:c.428G>A, NM_001289087.1:c.428G>A, XM_047435407.1:c.494G>A, XM_047435409.1:c.494G>A, XM_047435410.1:c.482G>A, XM_047435412.1:c.437G>A, XM_047435415.1:c.437G>A, XM_047435416.1:c.494G>A, XM_047435408.1:c.485G>A, XM_047435411.1:c.473G>A, XM_047435417.1:c.437G>A, XM_047435413.1:c.428G>A, XM_047435419.1:c.494G>A, XM_047435418.1:c.494G>A, XM_047435420.1:c.494G>A, XM_047435422.1:c.437G>A, XM_047435421.1:c.482G>A, NP_620587.2:p.Gly143Asp, XP_016879701.1:p.Gly162Asp, NP_001276015.1:p.Gly161Asp, NP_001276014.1:p.Gly146Asp, NP_001276011.1:p.Gly146Asp, NP_001276012.1:p.Gly143Asp, NP_001276013.1:p.Gly158Asp, NP_001276016.1:p.Gly143Asp, XP_047291363.1:p.Gly165Asp, XP_047291365.1:p.Gly165Asp, XP_047291366.1:p.Gly161Asp, XP_047291368.1:p.Gly146Asp, XP_047291371.1:p.Gly146Asp, XP_047291372.1:p.Gly165Asp, XP_047291364.1:p.Gly162Asp, XP_047291367.1:p.Gly158Asp, XP_047291373.1:p.Gly146Asp, XP_047291369.1:p.Gly143Asp, XP_047291375.1:p.Gly165Asp, XP_047291374.1:p.Gly165Asp, XP_047291376.1:p.Gly165Asp, XP_047291378.1:p.Gly146Asp, XP_047291377.1:p.Gly161Asp

            6.

            rs1470043669 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              17:74712842 (GRCh38)
              17:72708981 (GRCh37)
              Canonical SPDI:
              NC_000017.11:74712841:G:A,NC_000017.11:74712841:G:T
              Gene:
              CD300LF (Varview), RAB37 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              A=0.000008/2 (TOPMED)
              HGVS:
              NC_000017.11:g.74712842G>A, NC_000017.11:g.74712842G>T, NC_000017.10:g.72708981G>A, NC_000017.10:g.72708981G>T, NM_139018.5:c.25C>T, NM_139018.5:c.25C>A, NM_139018.4:c.25C>T, NM_139018.4:c.25C>A, NM_139018.3:c.25C>T, NM_139018.3:c.25C>A, XM_017024212.3:c.25C>T, XM_017024212.3:c.25C>A, XM_017024212.2:c.25C>T, XM_017024212.2:c.25C>A, XM_017024212.1:c.25C>T, XM_017024212.1:c.25C>A, NM_001289086.2:c.-141C>T, NM_001289086.2:c.-141C>A, NM_001289086.1:c.-141C>T, NM_001289086.1:c.-141C>A, NM_001289085.2:c.-141C>T, NM_001289085.2:c.-141C>A, NM_001289085.1:c.-141C>T, NM_001289085.1:c.-141C>A, NM_001289082.2:c.-141C>T, NM_001289082.2:c.-141C>A, NM_001289082.1:c.-141C>T, NM_001289082.1:c.-141C>A, NM_001289083.2:c.25C>T, NM_001289083.2:c.25C>A, NM_001289083.1:c.25C>T, NM_001289083.1:c.25C>A, NM_001289084.2:c.25C>T, NM_001289084.2:c.25C>A, NM_001289084.1:c.25C>T, NM_001289084.1:c.25C>A, NR_110298.2:n.82C>T, NR_110298.2:n.82C>A, NR_110298.1:n.159C>T, NR_110298.1:n.159C>A, NM_001289087.2:c.25C>T, NM_001289087.2:c.25C>A, NM_001289087.1:c.25C>T, NM_001289087.1:c.25C>A, XM_047435407.1:c.-70C>T, XM_047435407.1:c.-70C>A, XM_047435409.1:c.-70C>T, XM_047435409.1:c.-70C>A, XM_047435410.1:c.-70C>T, XM_047435410.1:c.-70C>A, XM_047435412.1:c.-70C>T, XM_047435412.1:c.-70C>A, XM_047435415.1:c.-70C>T, XM_047435415.1:c.-70C>A, XM_047435416.1:c.-70C>T, XM_047435416.1:c.-70C>A, XM_047435408.1:c.25C>T, XM_047435408.1:c.25C>A, XM_047435411.1:c.25C>T, XM_047435411.1:c.25C>A, XM_047435417.1:c.-70C>T, XM_047435417.1:c.-70C>A, XM_047435413.1:c.25C>T, XM_047435413.1:c.25C>A, XM_047435419.1:c.-70C>T, XM_047435419.1:c.-70C>A, XM_047435418.1:c.-70C>T, XM_047435418.1:c.-70C>A, XM_047435420.1:c.-70C>T, XM_047435420.1:c.-70C>A, XM_047435422.1:c.-70C>T, XM_047435422.1:c.-70C>A, XM_047435421.1:c.-70C>T, XM_047435421.1:c.-70C>A, NP_620587.2:p.Leu9Phe, NP_620587.2:p.Leu9Ile, XP_016879701.1:p.Leu9Phe, XP_016879701.1:p.Leu9Ile, NP_001276012.1:p.Leu9Phe, NP_001276012.1:p.Leu9Ile, NP_001276013.1:p.Leu9Phe, NP_001276013.1:p.Leu9Ile, NP_001276016.1:p.Leu9Phe, NP_001276016.1:p.Leu9Ile, XP_047291364.1:p.Leu9Phe, XP_047291364.1:p.Leu9Ile, XP_047291367.1:p.Leu9Phe, XP_047291367.1:p.Leu9Ile, XP_047291369.1:p.Leu9Phe, XP_047291369.1:p.Leu9Ile

              7.

              rs1465192444 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                17:74698409 (GRCh38)
                17:72694548 (GRCh37)
                Canonical SPDI:
                NC_000017.11:74698408:G:A
                Gene:
                CD300LF (Varview), RAB37 (Varview)
                Functional Consequence:
                synonymous_variant,genic_upstream_transcript_variant,missense_variant,intron_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_000017.11:g.74698409G>A, NC_000017.10:g.72694548G>A, NM_139018.5:c.519C>T, NM_139018.4:c.519C>T, NM_139018.3:c.519C>T, XM_017024212.3:c.576C>T, XM_017024212.2:c.576C>T, XM_017024212.1:c.576C>T, NM_001289086.2:c.573C>T, NM_001289086.1:c.573C>T, NM_001289085.2:c.528C>T, NM_001289085.1:c.528C>T, NM_001289083.2:c.565C>T, NM_001289083.1:c.565C>T, NM_001289084.2:c.564C>T, NM_001289084.1:c.564C>T, NM_001289087.2:c.519C>T, NM_001289087.1:c.519C>T, XM_047435407.1:c.663C>T, XM_047435409.1:c.654C>T, XM_047435410.1:c.651C>T, XM_047435412.1:c.606C>T, XM_047435415.1:c.597C>T, XM_047435416.1:c.585C>T, XM_047435408.1:c.654C>T, XM_047435411.1:c.642C>T, XM_047435417.1:c.528C>T, XM_047435413.1:c.597C>T, XM_047435419.1:c.663C>T, XM_047435418.1:c.640C>T, XM_047435420.1:c.631C>T, XM_047435422.1:c.583C>T, XM_047435421.1:c.573C>T, NP_001276012.1:p.Leu189Phe, XP_047291374.1:p.Leu214Phe, XP_047291376.1:p.Leu211Phe, XP_047291378.1:p.Leu195Phe

                8.

                rs1464419978 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G [Show Flanks]
                  Chromosome:
                  17:74695758 (GRCh38)
                  17:72691897 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:74695757:C:A,NC_000017.11:74695757:C:G
                  Gene:
                  CD300LF (Varview), RAB37 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000017.11:g.74695758C>A, NC_000017.11:g.74695758C>G, NC_000017.10:g.72691897C>A, NC_000017.10:g.72691897C>G, NM_139018.5:c.684G>T, NM_139018.5:c.684G>C, NM_139018.4:c.684G>T, NM_139018.4:c.684G>C, NM_139018.3:c.684G>T, NM_139018.3:c.684G>C, XM_017024212.3:c.741G>T, XM_017024212.3:c.741G>C, XM_017024212.2:c.741G>T, XM_017024212.2:c.741G>C, XM_017024212.1:c.741G>T, XM_017024212.1:c.741G>C, NM_001289086.2:c.715G>T, NM_001289086.2:c.715G>C, NM_001289086.1:c.715G>T, NM_001289086.1:c.715G>C, NM_001289085.2:c.693G>T, NM_001289085.2:c.693G>C, NM_001289085.1:c.693G>T, NM_001289085.1:c.693G>C, NM_001289082.2:c.580G>T, NM_001289082.2:c.580G>C, NM_001289082.1:c.580G>T, NM_001289082.1:c.580G>C, NM_001289083.2:c.730G>T, NM_001289083.2:c.730G>C, NM_001289083.1:c.730G>T, NM_001289083.1:c.730G>C, NM_001289084.2:c.729G>T, NM_001289084.2:c.729G>C, NM_001289084.1:c.729G>T, NM_001289084.1:c.729G>C, NR_110298.2:n.779G>T, NR_110298.2:n.779G>C, NR_110298.1:n.856G>T, NR_110298.1:n.856G>C, NM_001289087.2:c.661G>T, NM_001289087.2:c.661G>C, NM_001289087.1:c.661G>T, NM_001289087.1:c.661G>C, XM_047435407.1:c.828G>T, XM_047435407.1:c.828G>C, XM_047435409.1:c.819G>T, XM_047435409.1:c.819G>C, XM_047435410.1:c.816G>T, XM_047435410.1:c.816G>C, XM_047435412.1:c.771G>T, XM_047435412.1:c.771G>C, XM_047435415.1:c.762G>T, XM_047435415.1:c.762G>C, XM_047435416.1:c.750G>T, XM_047435416.1:c.750G>C, XM_047435408.1:c.819G>T, XM_047435408.1:c.819G>C, XM_047435411.1:c.807G>T, XM_047435411.1:c.807G>C, XM_047435417.1:c.693G>T, XM_047435417.1:c.693G>C, XM_047435413.1:c.762G>T, XM_047435413.1:c.762G>C, XM_047435419.1:c.805G>T, XM_047435419.1:c.805G>C, XM_047435418.1:c.805G>T, XM_047435418.1:c.805G>C, XM_047435420.1:c.796G>T, XM_047435420.1:c.796G>C, XM_047435422.1:c.748G>T, XM_047435422.1:c.748G>C, XM_047435421.1:c.715G>T, XM_047435421.1:c.715G>C, NP_620587.2:p.Gln228His, NP_620587.2:p.Gln228His, XP_016879701.1:p.Gln247His, XP_016879701.1:p.Gln247His, NP_001276015.1:p.Gly239Cys, NP_001276015.1:p.Gly239Arg, NP_001276014.1:p.Gln231His, NP_001276014.1:p.Gln231His, NP_001276011.1:p.Gly194Cys, NP_001276011.1:p.Gly194Arg, NP_001276012.1:p.Gly244Cys, NP_001276012.1:p.Gly244Arg, NP_001276013.1:p.Gln243His, NP_001276013.1:p.Gln243His, NP_001276016.1:p.Gly221Cys, NP_001276016.1:p.Gly221Arg, XP_047291363.1:p.Gln276His, XP_047291363.1:p.Gln276His, XP_047291365.1:p.Gln273His, XP_047291365.1:p.Gln273His, XP_047291366.1:p.Gln272His, XP_047291366.1:p.Gln272His, XP_047291368.1:p.Gln257His, XP_047291368.1:p.Gln257His, XP_047291371.1:p.Gln254His, XP_047291371.1:p.Gln254His, XP_047291372.1:p.Gln250His, XP_047291372.1:p.Gln250His, XP_047291364.1:p.Gln273His, XP_047291364.1:p.Gln273His, XP_047291367.1:p.Gln269His, XP_047291367.1:p.Gln269His, XP_047291373.1:p.Gln231His, XP_047291373.1:p.Gln231His, XP_047291369.1:p.Gln254His, XP_047291369.1:p.Gln254His, XP_047291375.1:p.Gly269Cys, XP_047291375.1:p.Gly269Arg, XP_047291374.1:p.Gly269Cys, XP_047291374.1:p.Gly269Arg, XP_047291376.1:p.Gly266Cys, XP_047291376.1:p.Gly266Arg, XP_047291378.1:p.Gly250Cys, XP_047291378.1:p.Gly250Arg, XP_047291377.1:p.Gly239Cys, XP_047291377.1:p.Gly239Arg

                  9.

                  rs1459206191 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    17:74704700 (GRCh38)
                    17:72700839 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:74704699:A:G
                    Gene:
                    CD300LF (Varview), RAB37 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000017.11:g.74704700A>G, NC_000017.10:g.72700839A>G, NM_139018.5:c.160T>C, NM_139018.4:c.160T>C, NM_139018.3:c.160T>C, XM_017024212.3:c.160T>C, XM_017024212.2:c.160T>C, XM_017024212.1:c.160T>C, NM_001289086.2:c.169T>C, NM_001289086.1:c.169T>C, NM_001289085.2:c.169T>C, NM_001289085.1:c.169T>C, NM_001289082.2:c.169T>C, NM_001289082.1:c.169T>C, NM_001289083.2:c.160T>C, NM_001289083.1:c.160T>C, NM_001289084.2:c.160T>C, NM_001289084.1:c.160T>C, NR_110298.2:n.391T>C, NR_110298.1:n.468T>C, NM_001289087.2:c.160T>C, NM_001289087.1:c.160T>C, XM_047435407.1:c.169T>C, XM_047435409.1:c.169T>C, XM_047435410.1:c.169T>C, XM_047435412.1:c.169T>C, XM_047435415.1:c.169T>C, XM_047435416.1:c.169T>C, XM_047435408.1:c.160T>C, XM_047435411.1:c.160T>C, XM_047435417.1:c.169T>C, XM_047435413.1:c.160T>C, XM_047435419.1:c.169T>C, XM_047435418.1:c.169T>C, XM_047435420.1:c.169T>C, XM_047435422.1:c.169T>C, XM_047435421.1:c.169T>C, NP_620587.2:p.Cys54Arg, XP_016879701.1:p.Cys54Arg, NP_001276015.1:p.Cys57Arg, NP_001276014.1:p.Cys57Arg, NP_001276011.1:p.Cys57Arg, NP_001276012.1:p.Cys54Arg, NP_001276013.1:p.Cys54Arg, NP_001276016.1:p.Cys54Arg, XP_047291363.1:p.Cys57Arg, XP_047291365.1:p.Cys57Arg, XP_047291366.1:p.Cys57Arg, XP_047291368.1:p.Cys57Arg, XP_047291371.1:p.Cys57Arg, XP_047291372.1:p.Cys57Arg, XP_047291364.1:p.Cys54Arg, XP_047291367.1:p.Cys54Arg, XP_047291373.1:p.Cys57Arg, XP_047291369.1:p.Cys54Arg, XP_047291375.1:p.Cys57Arg, XP_047291374.1:p.Cys57Arg, XP_047291376.1:p.Cys57Arg, XP_047291378.1:p.Cys57Arg, XP_047291377.1:p.Cys57Arg

                    10.

                    rs1456831866 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      17:74704635 (GRCh38)
                      17:72700774 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:74704634:C:T
                      Gene:
                      CD300LF (Varview), RAB37 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000014/2 (GnomAD)
                      T=0.000015/4 (TOPMED)
                      HGVS:
                      NC_000017.11:g.74704635C>T, NC_000017.10:g.72700774C>T, NM_139018.5:c.225G>A, NM_139018.4:c.225G>A, NM_139018.3:c.225G>A, XM_017024212.3:c.225G>A, XM_017024212.2:c.225G>A, XM_017024212.1:c.225G>A, NM_001289086.2:c.234G>A, NM_001289086.1:c.234G>A, NM_001289085.2:c.234G>A, NM_001289085.1:c.234G>A, NM_001289082.2:c.234G>A, NM_001289082.1:c.234G>A, NM_001289083.2:c.225G>A, NM_001289083.1:c.225G>A, NM_001289084.2:c.225G>A, NM_001289084.1:c.225G>A, NR_110298.2:n.456G>A, NR_110298.1:n.533G>A, NM_001289087.2:c.225G>A, NM_001289087.1:c.225G>A, XM_047435407.1:c.234G>A, XM_047435409.1:c.234G>A, XM_047435410.1:c.234G>A, XM_047435412.1:c.234G>A, XM_047435415.1:c.234G>A, XM_047435416.1:c.234G>A, XM_047435408.1:c.225G>A, XM_047435411.1:c.225G>A, XM_047435417.1:c.234G>A, XM_047435413.1:c.225G>A, XM_047435419.1:c.234G>A, XM_047435418.1:c.234G>A, XM_047435420.1:c.234G>A, XM_047435422.1:c.234G>A, XM_047435421.1:c.234G>A

                      11.

                      rs1455647643 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        17:74698426 (GRCh38)
                        17:72694565 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:74698425:G:A
                        Gene:
                        CD300LF (Varview), RAB37 (Varview)
                        Functional Consequence:
                        synonymous_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000017.11:g.74698426G>A, NC_000017.10:g.72694565G>A, NM_139018.5:c.502C>T, NM_139018.4:c.502C>T, NM_139018.3:c.502C>T, XM_017024212.3:c.559C>T, XM_017024212.2:c.559C>T, XM_017024212.1:c.559C>T, NM_001289086.2:c.556C>T, NM_001289086.1:c.556C>T, NM_001289085.2:c.511C>T, NM_001289085.1:c.511C>T, NM_001289083.2:c.548C>T, NM_001289083.1:c.548C>T, NM_001289084.2:c.547C>T, NM_001289084.1:c.547C>T, NM_001289087.2:c.502C>T, NM_001289087.1:c.502C>T, XM_047435407.1:c.646C>T, XM_047435409.1:c.637C>T, XM_047435410.1:c.634C>T, XM_047435412.1:c.589C>T, XM_047435415.1:c.580C>T, XM_047435416.1:c.568C>T, XM_047435408.1:c.637C>T, XM_047435411.1:c.625C>T, XM_047435417.1:c.511C>T, XM_047435413.1:c.580C>T, XM_047435419.1:c.646C>T, XM_047435418.1:c.623C>T, XM_047435420.1:c.614C>T, XM_047435422.1:c.566C>T, XM_047435421.1:c.556C>T, NP_001276012.1:p.Ala183Val, XP_047291374.1:p.Ala208Val, XP_047291376.1:p.Ala205Val, XP_047291378.1:p.Ala189Val

                        12.

                        rs1452296762 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          17:74695767 (GRCh38)
                          17:72691906 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:74695766:G:C
                          Gene:
                          CD300LF (Varview), RAB37 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000017.11:g.74695767G>C, NC_000017.10:g.72691906G>C, NM_139018.5:c.675C>G, NM_139018.4:c.675C>G, NM_139018.3:c.675C>G, XM_017024212.3:c.732C>G, XM_017024212.2:c.732C>G, XM_017024212.1:c.732C>G, NM_001289086.2:c.706C>G, NM_001289086.1:c.706C>G, NM_001289085.2:c.684C>G, NM_001289085.1:c.684C>G, NM_001289082.2:c.571C>G, NM_001289082.1:c.571C>G, NM_001289083.2:c.721C>G, NM_001289083.1:c.721C>G, NM_001289084.2:c.720C>G, NM_001289084.1:c.720C>G, NR_110298.2:n.770C>G, NR_110298.1:n.847C>G, NM_001289087.2:c.652C>G, NM_001289087.1:c.652C>G, XM_047435407.1:c.819C>G, XM_047435409.1:c.810C>G, XM_047435410.1:c.807C>G, XM_047435412.1:c.762C>G, XM_047435415.1:c.753C>G, XM_047435416.1:c.741C>G, XM_047435408.1:c.810C>G, XM_047435411.1:c.798C>G, XM_047435417.1:c.684C>G, XM_047435413.1:c.753C>G, XM_047435419.1:c.796C>G, XM_047435418.1:c.796C>G, XM_047435420.1:c.787C>G, XM_047435422.1:c.739C>G, XM_047435421.1:c.706C>G, NP_001276015.1:p.Leu236Val, NP_001276011.1:p.Leu191Val, NP_001276012.1:p.Leu241Val, NP_001276016.1:p.Leu218Val, XP_047291375.1:p.Leu266Val, XP_047291374.1:p.Leu266Val, XP_047291376.1:p.Leu263Val, XP_047291378.1:p.Leu247Val, XP_047291377.1:p.Leu236Val

                          13.

                          rs1448451754 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            17:74704752 (GRCh38)
                            17:72700891 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:74704751:C:A
                            Gene:
                            CD300LF (Varview), RAB37 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000017.11:g.74704752C>A, NC_000017.10:g.72700891C>A, NM_139018.5:c.108G>T, NM_139018.4:c.108G>T, NM_139018.3:c.108G>T, XM_017024212.3:c.108G>T, XM_017024212.2:c.108G>T, XM_017024212.1:c.108G>T, NM_001289086.2:c.117G>T, NM_001289086.1:c.117G>T, NM_001289085.2:c.117G>T, NM_001289085.1:c.117G>T, NM_001289082.2:c.117G>T, NM_001289082.1:c.117G>T, NM_001289083.2:c.108G>T, NM_001289083.1:c.108G>T, NM_001289084.2:c.108G>T, NM_001289084.1:c.108G>T, NR_110298.2:n.339G>T, NR_110298.1:n.416G>T, NM_001289087.2:c.108G>T, NM_001289087.1:c.108G>T, XM_047435407.1:c.117G>T, XM_047435409.1:c.117G>T, XM_047435410.1:c.117G>T, XM_047435412.1:c.117G>T, XM_047435415.1:c.117G>T, XM_047435416.1:c.117G>T, XM_047435408.1:c.108G>T, XM_047435411.1:c.108G>T, XM_047435417.1:c.117G>T, XM_047435413.1:c.108G>T, XM_047435419.1:c.117G>T, XM_047435418.1:c.117G>T, XM_047435420.1:c.117G>T, XM_047435422.1:c.117G>T, XM_047435421.1:c.117G>T, NP_620587.2:p.Leu36Phe, XP_016879701.1:p.Leu36Phe, NP_001276015.1:p.Leu39Phe, NP_001276014.1:p.Leu39Phe, NP_001276011.1:p.Leu39Phe, NP_001276012.1:p.Leu36Phe, NP_001276013.1:p.Leu36Phe, NP_001276016.1:p.Leu36Phe, XP_047291363.1:p.Leu39Phe, XP_047291365.1:p.Leu39Phe, XP_047291366.1:p.Leu39Phe, XP_047291368.1:p.Leu39Phe, XP_047291371.1:p.Leu39Phe, XP_047291372.1:p.Leu39Phe, XP_047291364.1:p.Leu36Phe, XP_047291367.1:p.Leu36Phe, XP_047291373.1:p.Leu39Phe, XP_047291369.1:p.Leu36Phe, XP_047291375.1:p.Leu39Phe, XP_047291374.1:p.Leu39Phe, XP_047291376.1:p.Leu39Phe, XP_047291378.1:p.Leu39Phe, XP_047291377.1:p.Leu39Phe

                            14.

                            rs1441239758 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              17:74704509 (GRCh38)
                              17:72700648 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:74704508:A:G
                              Gene:
                              CD300LF (Varview), RAB37 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              G=0.000035/1 (TOMMO)
                              HGVS:
                              NC_000017.11:g.74704509A>G, NC_000017.10:g.72700648A>G, NM_139018.5:c.351T>C, NM_139018.4:c.351T>C, NM_139018.3:c.351T>C, XM_017024212.3:c.351T>C, XM_017024212.2:c.351T>C, XM_017024212.1:c.351T>C, NM_001289086.2:c.360T>C, NM_001289086.1:c.360T>C, NM_001289085.2:c.360T>C, NM_001289085.1:c.360T>C, NM_001289082.2:c.360T>C, NM_001289082.1:c.360T>C, NM_001289083.2:c.351T>C, NM_001289083.1:c.351T>C, NM_001289084.2:c.351T>C, NM_001289084.1:c.351T>C, NR_110298.2:n.582T>C, NR_110298.1:n.659T>C, NM_001289087.2:c.351T>C, NM_001289087.1:c.351T>C, XM_047435407.1:c.360T>C, XM_047435409.1:c.360T>C, XM_047435410.1:c.360T>C, XM_047435412.1:c.360T>C, XM_047435415.1:c.360T>C, XM_047435416.1:c.360T>C, XM_047435408.1:c.351T>C, XM_047435411.1:c.351T>C, XM_047435417.1:c.360T>C, XM_047435413.1:c.351T>C, XM_047435419.1:c.360T>C, XM_047435418.1:c.360T>C, XM_047435420.1:c.360T>C, XM_047435422.1:c.360T>C, XM_047435421.1:c.360T>C

                              15.

                              rs1440764865 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                17:74704777 (GRCh38)
                                17:72700916 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:74704776:A:G
                                Gene:
                                CD300LF (Varview), RAB37 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000017.11:g.74704777A>G, NC_000017.10:g.72700916A>G, NM_139018.5:c.83T>C, NM_139018.4:c.83T>C, NM_139018.3:c.83T>C, XM_017024212.3:c.83T>C, XM_017024212.2:c.83T>C, XM_017024212.1:c.83T>C, NM_001289086.2:c.92T>C, NM_001289086.1:c.92T>C, NM_001289085.2:c.92T>C, NM_001289085.1:c.92T>C, NM_001289082.2:c.92T>C, NM_001289082.1:c.92T>C, NM_001289083.2:c.83T>C, NM_001289083.1:c.83T>C, NM_001289084.2:c.83T>C, NM_001289084.1:c.83T>C, NR_110298.2:n.314T>C, NR_110298.1:n.391T>C, NM_001289087.2:c.83T>C, NM_001289087.1:c.83T>C, XM_047435407.1:c.92T>C, XM_047435409.1:c.92T>C, XM_047435410.1:c.92T>C, XM_047435412.1:c.92T>C, XM_047435415.1:c.92T>C, XM_047435416.1:c.92T>C, XM_047435408.1:c.83T>C, XM_047435411.1:c.83T>C, XM_047435417.1:c.92T>C, XM_047435413.1:c.83T>C, XM_047435419.1:c.92T>C, XM_047435418.1:c.92T>C, XM_047435420.1:c.92T>C, XM_047435422.1:c.92T>C, XM_047435421.1:c.92T>C, NP_620587.2:p.Val28Ala, XP_016879701.1:p.Val28Ala, NP_001276015.1:p.Val31Ala, NP_001276014.1:p.Val31Ala, NP_001276011.1:p.Val31Ala, NP_001276012.1:p.Val28Ala, NP_001276013.1:p.Val28Ala, NP_001276016.1:p.Val28Ala, XP_047291363.1:p.Val31Ala, XP_047291365.1:p.Val31Ala, XP_047291366.1:p.Val31Ala, XP_047291368.1:p.Val31Ala, XP_047291371.1:p.Val31Ala, XP_047291372.1:p.Val31Ala, XP_047291364.1:p.Val28Ala, XP_047291367.1:p.Val28Ala, XP_047291373.1:p.Val31Ala, XP_047291369.1:p.Val28Ala, XP_047291375.1:p.Val31Ala, XP_047291374.1:p.Val31Ala, XP_047291376.1:p.Val31Ala, XP_047291378.1:p.Val31Ala, XP_047291377.1:p.Val31Ala

                                16.

                                rs1434617554 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A,C [Show Flanks]
                                  Chromosome:
                                  17:74703078 (GRCh38)
                                  17:72699217 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:74703077:T:A,NC_000017.11:74703077:T:C
                                  Gene:
                                  CD300LF (Varview), RAB37 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000017.11:g.74703078T>A, NC_000017.11:g.74703078T>C, NC_000017.10:g.72699217T>A, NC_000017.10:g.72699217T>C, NM_139018.5:c.403A>T, NM_139018.5:c.403A>G, NM_139018.4:c.403A>T, NM_139018.4:c.403A>G, NM_139018.3:c.403A>T, NM_139018.3:c.403A>G, XM_017024212.3:c.460A>T, XM_017024212.3:c.460A>G, XM_017024212.2:c.460A>T, XM_017024212.2:c.460A>G, XM_017024212.1:c.460A>T, XM_017024212.1:c.460A>G, NM_001289086.2:c.457A>T, NM_001289086.2:c.457A>G, NM_001289086.1:c.457A>T, NM_001289086.1:c.457A>G, NM_001289085.2:c.412A>T, NM_001289085.2:c.412A>G, NM_001289085.1:c.412A>T, NM_001289085.1:c.412A>G, NM_001289082.2:c.412A>T, NM_001289082.2:c.412A>G, NM_001289082.1:c.412A>T, NM_001289082.1:c.412A>G, NM_001289083.2:c.403A>T, NM_001289083.2:c.403A>G, NM_001289083.1:c.403A>T, NM_001289083.1:c.403A>G, NM_001289084.2:c.448A>T, NM_001289084.2:c.448A>G, NM_001289084.1:c.448A>T, NM_001289084.1:c.448A>G, NR_110298.2:n.634A>T, NR_110298.2:n.634A>G, NR_110298.1:n.711A>T, NR_110298.1:n.711A>G, NM_001289087.2:c.403A>T, NM_001289087.2:c.403A>G, NM_001289087.1:c.403A>T, NM_001289087.1:c.403A>G, XM_047435407.1:c.469A>T, XM_047435407.1:c.469A>G, XM_047435409.1:c.469A>T, XM_047435409.1:c.469A>G, XM_047435410.1:c.457A>T, XM_047435410.1:c.457A>G, XM_047435412.1:c.412A>T, XM_047435412.1:c.412A>G, XM_047435415.1:c.412A>T, XM_047435415.1:c.412A>G, XM_047435416.1:c.469A>T, XM_047435416.1:c.469A>G, XM_047435408.1:c.460A>T, XM_047435408.1:c.460A>G, XM_047435411.1:c.448A>T, XM_047435411.1:c.448A>G, XM_047435417.1:c.412A>T, XM_047435417.1:c.412A>G, XM_047435413.1:c.403A>T, XM_047435413.1:c.403A>G, XM_047435419.1:c.469A>T, XM_047435419.1:c.469A>G, XM_047435418.1:c.469A>T, XM_047435418.1:c.469A>G, XM_047435420.1:c.469A>T, XM_047435420.1:c.469A>G, XM_047435422.1:c.412A>T, XM_047435422.1:c.412A>G, XM_047435421.1:c.457A>T, XM_047435421.1:c.457A>G, NP_620587.2:p.Thr135Ser, NP_620587.2:p.Thr135Ala, XP_016879701.1:p.Thr154Ser, XP_016879701.1:p.Thr154Ala, NP_001276015.1:p.Thr153Ser, NP_001276015.1:p.Thr153Ala, NP_001276014.1:p.Thr138Ser, NP_001276014.1:p.Thr138Ala, NP_001276011.1:p.Thr138Ser, NP_001276011.1:p.Thr138Ala, NP_001276012.1:p.Thr135Ser, NP_001276012.1:p.Thr135Ala, NP_001276013.1:p.Thr150Ser, NP_001276013.1:p.Thr150Ala, NP_001276016.1:p.Thr135Ser, NP_001276016.1:p.Thr135Ala, XP_047291363.1:p.Thr157Ser, XP_047291363.1:p.Thr157Ala, XP_047291365.1:p.Thr157Ser, XP_047291365.1:p.Thr157Ala, XP_047291366.1:p.Thr153Ser, XP_047291366.1:p.Thr153Ala, XP_047291368.1:p.Thr138Ser, XP_047291368.1:p.Thr138Ala, XP_047291371.1:p.Thr138Ser, XP_047291371.1:p.Thr138Ala, XP_047291372.1:p.Thr157Ser, XP_047291372.1:p.Thr157Ala, XP_047291364.1:p.Thr154Ser, XP_047291364.1:p.Thr154Ala, XP_047291367.1:p.Thr150Ser, XP_047291367.1:p.Thr150Ala, XP_047291373.1:p.Thr138Ser, XP_047291373.1:p.Thr138Ala, XP_047291369.1:p.Thr135Ser, XP_047291369.1:p.Thr135Ala, XP_047291375.1:p.Thr157Ser, XP_047291375.1:p.Thr157Ala, XP_047291374.1:p.Thr157Ser, XP_047291374.1:p.Thr157Ala, XP_047291376.1:p.Thr157Ser, XP_047291376.1:p.Thr157Ala, XP_047291378.1:p.Thr138Ser, XP_047291378.1:p.Thr138Ala, XP_047291377.1:p.Thr153Ser, XP_047291377.1:p.Thr153Ala

                                  17.

                                  rs1434035842 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    17:74704604 (GRCh38)
                                    17:72700743 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:74704603:G:C
                                    Gene:
                                    CD300LF (Varview), RAB37 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000017.11:g.74704604G>C, NC_000017.10:g.72700743G>C, NM_139018.5:c.256C>G, NM_139018.4:c.256C>G, NM_139018.3:c.256C>G, XM_017024212.3:c.256C>G, XM_017024212.2:c.256C>G, XM_017024212.1:c.256C>G, NM_001289086.2:c.265C>G, NM_001289086.1:c.265C>G, NM_001289085.2:c.265C>G, NM_001289085.1:c.265C>G, NM_001289082.2:c.265C>G, NM_001289082.1:c.265C>G, NM_001289083.2:c.256C>G, NM_001289083.1:c.256C>G, NM_001289084.2:c.256C>G, NM_001289084.1:c.256C>G, NR_110298.2:n.487C>G, NR_110298.1:n.564C>G, NM_001289087.2:c.256C>G, NM_001289087.1:c.256C>G, XM_047435407.1:c.265C>G, XM_047435409.1:c.265C>G, XM_047435410.1:c.265C>G, XM_047435412.1:c.265C>G, XM_047435415.1:c.265C>G, XM_047435416.1:c.265C>G, XM_047435408.1:c.256C>G, XM_047435411.1:c.256C>G, XM_047435417.1:c.265C>G, XM_047435413.1:c.256C>G, XM_047435419.1:c.265C>G, XM_047435418.1:c.265C>G, XM_047435420.1:c.265C>G, XM_047435422.1:c.265C>G, XM_047435421.1:c.265C>G, NP_620587.2:p.Gln86Glu, XP_016879701.1:p.Gln86Glu, NP_001276015.1:p.Gln89Glu, NP_001276014.1:p.Gln89Glu, NP_001276011.1:p.Gln89Glu, NP_001276012.1:p.Gln86Glu, NP_001276013.1:p.Gln86Glu, NP_001276016.1:p.Gln86Glu, XP_047291363.1:p.Gln89Glu, XP_047291365.1:p.Gln89Glu, XP_047291366.1:p.Gln89Glu, XP_047291368.1:p.Gln89Glu, XP_047291371.1:p.Gln89Glu, XP_047291372.1:p.Gln89Glu, XP_047291364.1:p.Gln86Glu, XP_047291367.1:p.Gln86Glu, XP_047291373.1:p.Gln89Glu, XP_047291369.1:p.Gln86Glu, XP_047291375.1:p.Gln89Glu, XP_047291374.1:p.Gln89Glu, XP_047291376.1:p.Gln89Glu, XP_047291378.1:p.Gln89Glu, XP_047291377.1:p.Gln89Glu

                                    18.

                                    rs1422983387 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      17:74712863 (GRCh38)
                                      17:72709002 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:74712862:G:A
                                      Gene:
                                      CD300LF (Varview), RAB37 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000011/3 (TOPMED)
                                      HGVS:
                                      NC_000017.11:g.74712863G>A, NC_000017.10:g.72709002G>A, NM_139018.5:c.4C>T, NM_139018.4:c.4C>T, NM_139018.3:c.4C>T, XM_017024212.3:c.4C>T, XM_017024212.2:c.4C>T, XM_017024212.1:c.4C>T, NM_001289086.2:c.-162C>T, NM_001289086.1:c.-162C>T, NM_001289085.2:c.-162C>T, NM_001289085.1:c.-162C>T, NM_001289082.2:c.-162C>T, NM_001289082.1:c.-162C>T, NM_001289083.2:c.4C>T, NM_001289083.1:c.4C>T, NM_001289084.2:c.4C>T, NM_001289084.1:c.4C>T, NR_110298.2:n.61C>T, NR_110298.1:n.138C>T, NM_001289087.2:c.4C>T, NM_001289087.1:c.4C>T, XM_047435407.1:c.-91C>T, XM_047435409.1:c.-91C>T, XM_047435410.1:c.-91C>T, XM_047435412.1:c.-91C>T, XM_047435415.1:c.-91C>T, XM_047435416.1:c.-91C>T, XM_047435408.1:c.4C>T, XM_047435411.1:c.4C>T, XM_047435417.1:c.-91C>T, XM_047435413.1:c.4C>T, XM_047435419.1:c.-91C>T, XM_047435418.1:c.-91C>T, XM_047435420.1:c.-91C>T, XM_047435422.1:c.-91C>T, XM_047435421.1:c.-91C>T, NP_620587.2:p.Pro2Ser, XP_016879701.1:p.Pro2Ser, NP_001276012.1:p.Pro2Ser, NP_001276013.1:p.Pro2Ser, NP_001276016.1:p.Pro2Ser, XP_047291364.1:p.Pro2Ser, XP_047291367.1:p.Pro2Ser, XP_047291369.1:p.Pro2Ser

                                      19.

                                      rs1419606087 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        17:74704576 (GRCh38)
                                        17:72700715 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:74704575:A:G
                                        Gene:
                                        CD300LF (Varview), RAB37 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000017.11:g.74704576A>G, NC_000017.10:g.72700715A>G, NM_139018.5:c.284T>C, NM_139018.4:c.284T>C, NM_139018.3:c.284T>C, XM_017024212.3:c.284T>C, XM_017024212.2:c.284T>C, XM_017024212.1:c.284T>C, NM_001289086.2:c.293T>C, NM_001289086.1:c.293T>C, NM_001289085.2:c.293T>C, NM_001289085.1:c.293T>C, NM_001289082.2:c.293T>C, NM_001289082.1:c.293T>C, NM_001289083.2:c.284T>C, NM_001289083.1:c.284T>C, NM_001289084.2:c.284T>C, NM_001289084.1:c.284T>C, NR_110298.2:n.515T>C, NR_110298.1:n.592T>C, NM_001289087.2:c.284T>C, NM_001289087.1:c.284T>C, XM_047435407.1:c.293T>C, XM_047435409.1:c.293T>C, XM_047435410.1:c.293T>C, XM_047435412.1:c.293T>C, XM_047435415.1:c.293T>C, XM_047435416.1:c.293T>C, XM_047435408.1:c.284T>C, XM_047435411.1:c.284T>C, XM_047435417.1:c.293T>C, XM_047435413.1:c.284T>C, XM_047435419.1:c.293T>C, XM_047435418.1:c.293T>C, XM_047435420.1:c.293T>C, XM_047435422.1:c.293T>C, XM_047435421.1:c.293T>C, NP_620587.2:p.Met95Thr, XP_016879701.1:p.Met95Thr, NP_001276015.1:p.Met98Thr, NP_001276014.1:p.Met98Thr, NP_001276011.1:p.Met98Thr, NP_001276012.1:p.Met95Thr, NP_001276013.1:p.Met95Thr, NP_001276016.1:p.Met95Thr, XP_047291363.1:p.Met98Thr, XP_047291365.1:p.Met98Thr, XP_047291366.1:p.Met98Thr, XP_047291368.1:p.Met98Thr, XP_047291371.1:p.Met98Thr, XP_047291372.1:p.Met98Thr, XP_047291364.1:p.Met95Thr, XP_047291367.1:p.Met95Thr, XP_047291373.1:p.Met98Thr, XP_047291369.1:p.Met95Thr, XP_047291375.1:p.Met98Thr, XP_047291374.1:p.Met98Thr, XP_047291376.1:p.Met98Thr, XP_047291378.1:p.Met98Thr, XP_047291377.1:p.Met98Thr

                                        20.

                                        rs1414320495 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          17:74698424 (GRCh38)
                                          17:72694563 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:74698423:C:T
                                          Gene:
                                          CD300LF (Varview), RAB37 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000017.11:g.74698424C>T, NC_000017.10:g.72694563C>T, NM_139018.5:c.504G>A, NM_139018.4:c.504G>A, NM_139018.3:c.504G>A, XM_017024212.3:c.561G>A, XM_017024212.2:c.561G>A, XM_017024212.1:c.561G>A, NM_001289086.2:c.558G>A, NM_001289086.1:c.558G>A, NM_001289085.2:c.513G>A, NM_001289085.1:c.513G>A, NM_001289083.2:c.550G>A, NM_001289083.1:c.550G>A, NM_001289084.2:c.549G>A, NM_001289084.1:c.549G>A, NM_001289087.2:c.504G>A, NM_001289087.1:c.504G>A, XM_047435407.1:c.648G>A, XM_047435409.1:c.639G>A, XM_047435410.1:c.636G>A, XM_047435412.1:c.591G>A, XM_047435415.1:c.582G>A, XM_047435416.1:c.570G>A, XM_047435408.1:c.639G>A, XM_047435411.1:c.627G>A, XM_047435417.1:c.513G>A, XM_047435413.1:c.582G>A, XM_047435419.1:c.648G>A, XM_047435418.1:c.625G>A, XM_047435420.1:c.616G>A, XM_047435422.1:c.568G>A, XM_047435421.1:c.558G>A, NP_001276012.1:p.Ala184Thr, XP_047291374.1:p.Ala209Thr, XP_047291376.1:p.Ala206Thr, XP_047291378.1:p.Ala190Thr

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