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Items: 1 to 20 of 757

1.

rs1490087466 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    17:16432014 (GRCh38)
    17:16335328 (GRCh37)
    Canonical SPDI:
    NC_000017.11:16432013:G:A,NC_000017.11:16432013:G:T
    Gene:
    TRPV2 (Varview)
    Functional Consequence:
    coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    T=0.000007/1 (GnomAD)
    HGVS:
    NC_000017.11:g.16432014G>A, NC_000017.11:g.16432014G>T, NC_000017.10:g.16335328G>A, NC_000017.10:g.16335328G>T, XM_006721541.5:c.1703G>A, XM_006721541.5:c.1703G>T, XM_006721541.4:c.1703G>A, XM_006721541.4:c.1703G>T, XM_006721541.3:c.1703G>A, XM_006721541.3:c.1703G>T, XM_006721541.2:c.1703G>A, XM_006721541.2:c.1703G>T, XM_006721541.1:c.1703G>A, XM_006721541.1:c.1703G>T, NM_016113.5:c.1703G>A, NM_016113.5:c.1703G>T, NM_016113.4:c.1703G>A, NM_016113.4:c.1703G>T, XM_006721543.5:c.1703G>A, XM_006721543.5:c.1703G>T, XM_006721543.4:c.1703G>A, XM_006721543.4:c.1703G>T, XM_006721543.3:c.1703G>A, XM_006721543.3:c.1703G>T, XM_006721543.2:c.1703G>A, XM_006721543.2:c.1703G>T, XM_006721543.1:c.1703G>A, XM_006721543.1:c.1703G>T, XM_005256676.3:c.1700G>A, XM_005256676.3:c.1700G>T, XM_005256676.2:c.1700G>A, XM_005256676.2:c.1700G>T, XM_005256676.1:c.1700G>A, XM_005256676.1:c.1700G>T, XM_011523922.3:c.1703G>A, XM_011523922.3:c.1703G>T, XM_011523922.2:c.1703G>A, XM_011523922.2:c.1703G>T, XM_011523922.1:c.1703G>A, XM_011523922.1:c.1703G>T, XM_017024730.3:c.1700G>A, XM_017024730.3:c.1700G>T, XM_017024730.2:c.1700G>A, XM_017024730.2:c.1700G>T, XM_017024730.1:c.1700G>A, XM_017024730.1:c.1700G>T, XM_011523923.3:c.*40G>A, XM_011523923.3:c.*40G>T, XM_011523923.2:c.*40G>A, XM_011523923.2:c.*40G>T, XM_011523923.1:c.*40G>A, XM_011523923.1:c.*40G>T, XM_011523925.3:c.413G>A, XM_011523925.3:c.413G>T, XM_011523925.2:c.413G>A, XM_011523925.2:c.413G>T, XM_011523925.1:c.413G>A, XM_011523925.1:c.413G>T, XM_047436216.1:c.1700G>A, XM_047436216.1:c.1700G>T, XM_047436217.1:c.1703G>A, XM_047436217.1:c.1703G>T, NM_015930.1:c.1703G>A, NM_015930.1:c.1703G>T, XP_006721604.1:p.Gly568Asp, XP_006721604.1:p.Gly568Val, NP_057197.2:p.Gly568Asp, NP_057197.2:p.Gly568Val, XP_006721606.1:p.Gly568Asp, XP_006721606.1:p.Gly568Val, XP_005256733.1:p.Gly567Asp, XP_005256733.1:p.Gly567Val, XP_011522224.1:p.Gly568Asp, XP_011522224.1:p.Gly568Val, XP_016880219.1:p.Gly567Asp, XP_016880219.1:p.Gly567Val, XP_011522227.1:p.Gly138Asp, XP_011522227.1:p.Gly138Val, XP_047292172.1:p.Gly567Asp, XP_047292172.1:p.Gly567Val, XP_047292173.1:p.Gly568Asp, XP_047292173.1:p.Gly568Val

    2.

    rs1489218740 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      17:16422802 (GRCh38)
      17:16326116 (GRCh37)
      Canonical SPDI:
      NC_000017.11:16422801:A:G
      Gene:
      TRPV2 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
      HGVS:
      NC_000017.11:g.16422802A>G, NC_000017.10:g.16326116A>G, XM_005256678.6:c.538A>G, XM_005256678.5:c.538A>G, XM_005256678.4:c.538A>G, XM_005256678.3:c.538A>G, XM_005256678.2:c.538A>G, XM_005256678.1:c.538A>G, XM_006721541.5:c.538A>G, XM_006721541.4:c.538A>G, XM_006721541.3:c.538A>G, XM_006721541.2:c.538A>G, XM_006721541.1:c.538A>G, NM_016113.5:c.538A>G, NM_016113.4:c.538A>G, XM_006721543.5:c.538A>G, XM_006721543.4:c.538A>G, XM_006721543.3:c.538A>G, XM_006721543.2:c.538A>G, XM_006721543.1:c.538A>G, XM_005256676.3:c.538A>G, XM_005256676.2:c.538A>G, XM_005256676.1:c.538A>G, XM_011523922.3:c.538A>G, XM_011523922.2:c.538A>G, XM_011523922.1:c.538A>G, XM_017024730.3:c.538A>G, XM_017024730.2:c.538A>G, XM_017024730.1:c.538A>G, XM_005256677.3:c.538A>G, XM_005256677.2:c.538A>G, XM_005256677.1:c.538A>G, XM_017024731.3:c.538A>G, XM_017024731.2:c.538A>G, XM_017024731.1:c.538A>G, XM_017024732.3:c.538A>G, XM_017024732.2:c.538A>G, XM_017024732.1:c.538A>G, XM_011523923.3:c.538A>G, XM_011523923.2:c.538A>G, XM_011523923.1:c.538A>G, XM_047436219.1:c.538A>G, XM_047436216.1:c.538A>G, XM_047436217.1:c.538A>G, NM_015930.1:c.538A>G, XM_047436220.1:c.538A>G, XP_005256735.1:p.Lys180Glu, XP_006721604.1:p.Lys180Glu, NP_057197.2:p.Lys180Glu, XP_006721606.1:p.Lys180Glu, XP_005256733.1:p.Lys180Glu, XP_011522224.1:p.Lys180Glu, XP_016880219.1:p.Lys180Glu, XP_005256734.1:p.Lys180Glu, XP_016880220.1:p.Lys180Glu, XP_016880221.1:p.Lys180Glu, XP_011522225.1:p.Lys180Glu, XP_047292175.1:p.Lys180Glu, XP_047292172.1:p.Lys180Glu, XP_047292173.1:p.Lys180Glu, XP_047292176.1:p.Lys180Glu

      3.

      rs1489024096 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        17:16426266 (GRCh38)
        17:16329580 (GRCh37)
        Canonical SPDI:
        NC_000017.11:16426265:C:T
        Gene:
        TRPV2 (Varview)
        Functional Consequence:
        upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000008/2 (GnomAD_exomes)
        T=0.000008/2 (TOPMED)
        HGVS:
        NC_000017.11:g.16426266C>T, NC_000017.10:g.16329580C>T, XM_005256678.6:c.1092C>T, XM_005256678.5:c.1092C>T, XM_005256678.4:c.1092C>T, XM_005256678.3:c.1092C>T, XM_005256678.2:c.1092C>T, XM_005256678.1:c.1092C>T, XM_006721541.5:c.1092C>T, XM_006721541.4:c.1092C>T, XM_006721541.3:c.1092C>T, XM_006721541.2:c.1092C>T, XM_006721541.1:c.1092C>T, NM_016113.5:c.1092C>T, NM_016113.4:c.1092C>T, XM_006721543.5:c.1092C>T, XM_006721543.4:c.1092C>T, XM_006721543.3:c.1092C>T, XM_006721543.2:c.1092C>T, XM_006721543.1:c.1092C>T, XM_005256676.3:c.1092C>T, XM_005256676.2:c.1092C>T, XM_005256676.1:c.1092C>T, XM_011523922.3:c.1092C>T, XM_011523922.2:c.1092C>T, XM_011523922.1:c.1092C>T, XM_017024730.3:c.1092C>T, XM_017024730.2:c.1092C>T, XM_017024730.1:c.1092C>T, XM_005256677.3:c.1092C>T, XM_005256677.2:c.1092C>T, XM_005256677.1:c.1092C>T, XM_017024731.3:c.1092C>T, XM_017024731.2:c.1092C>T, XM_017024731.1:c.1092C>T, XM_017024732.3:c.1092C>T, XM_017024732.2:c.1092C>T, XM_017024732.1:c.1092C>T, XM_011523923.3:c.1092C>T, XM_011523923.2:c.1092C>T, XM_011523923.1:c.1092C>T, XM_047436219.1:c.1092C>T, XM_047436216.1:c.1092C>T, XM_047436217.1:c.1092C>T, NM_015930.1:c.1092C>T, XM_047436220.1:c.1092C>T

        4.

        rs1487249746 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          17:16426173 (GRCh38)
          17:16329487 (GRCh37)
          Canonical SPDI:
          NC_000017.11:16426172:T:A
          Gene:
          TRPV2 (Varview)
          Functional Consequence:
          stop_gained,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000017.11:g.16426173T>A, NC_000017.10:g.16329487T>A, XM_005256678.6:c.999T>A, XM_005256678.5:c.999T>A, XM_005256678.4:c.999T>A, XM_005256678.3:c.999T>A, XM_005256678.2:c.999T>A, XM_005256678.1:c.999T>A, XM_006721541.5:c.999T>A, XM_006721541.4:c.999T>A, XM_006721541.3:c.999T>A, XM_006721541.2:c.999T>A, XM_006721541.1:c.999T>A, NM_016113.5:c.999T>A, NM_016113.4:c.999T>A, XM_006721543.5:c.999T>A, XM_006721543.4:c.999T>A, XM_006721543.3:c.999T>A, XM_006721543.2:c.999T>A, XM_006721543.1:c.999T>A, XM_005256676.3:c.999T>A, XM_005256676.2:c.999T>A, XM_005256676.1:c.999T>A, XM_011523922.3:c.999T>A, XM_011523922.2:c.999T>A, XM_011523922.1:c.999T>A, XM_017024730.3:c.999T>A, XM_017024730.2:c.999T>A, XM_017024730.1:c.999T>A, XM_005256677.3:c.999T>A, XM_005256677.2:c.999T>A, XM_005256677.1:c.999T>A, XM_017024731.3:c.999T>A, XM_017024731.2:c.999T>A, XM_017024731.1:c.999T>A, XM_017024732.3:c.999T>A, XM_017024732.2:c.999T>A, XM_017024732.1:c.999T>A, XM_011523923.3:c.999T>A, XM_011523923.2:c.999T>A, XM_011523923.1:c.999T>A, XM_047436219.1:c.999T>A, XM_047436216.1:c.999T>A, XM_047436217.1:c.999T>A, NM_015930.1:c.999T>A, XM_047436220.1:c.999T>A, XP_005256735.1:p.Tyr333Ter, XP_006721604.1:p.Tyr333Ter, NP_057197.2:p.Tyr333Ter, XP_006721606.1:p.Tyr333Ter, XP_005256733.1:p.Tyr333Ter, XP_011522224.1:p.Tyr333Ter, XP_016880219.1:p.Tyr333Ter, XP_005256734.1:p.Tyr333Ter, XP_016880220.1:p.Tyr333Ter, XP_016880221.1:p.Tyr333Ter, XP_011522225.1:p.Tyr333Ter, XP_047292175.1:p.Tyr333Ter, XP_047292172.1:p.Tyr333Ter, XP_047292173.1:p.Tyr333Ter, XP_047292176.1:p.Tyr333Ter

          5.

          rs1487131324 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            17:16422741 (GRCh38)
            17:16326055 (GRCh37)
            Canonical SPDI:
            NC_000017.11:16422740:C:G
            Gene:
            TRPV2 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,coding_sequence_variant,missense_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.16422741C>G, NC_000017.10:g.16326055C>G, XM_005256678.6:c.477C>G, XM_005256678.5:c.477C>G, XM_005256678.4:c.477C>G, XM_005256678.3:c.477C>G, XM_005256678.2:c.477C>G, XM_005256678.1:c.477C>G, XM_006721541.5:c.477C>G, XM_006721541.4:c.477C>G, XM_006721541.3:c.477C>G, XM_006721541.2:c.477C>G, XM_006721541.1:c.477C>G, NM_016113.5:c.477C>G, NM_016113.4:c.477C>G, XM_006721543.5:c.477C>G, XM_006721543.4:c.477C>G, XM_006721543.3:c.477C>G, XM_006721543.2:c.477C>G, XM_006721543.1:c.477C>G, XM_005256676.3:c.477C>G, XM_005256676.2:c.477C>G, XM_005256676.1:c.477C>G, XM_011523922.3:c.477C>G, XM_011523922.2:c.477C>G, XM_011523922.1:c.477C>G, XM_017024730.3:c.477C>G, XM_017024730.2:c.477C>G, XM_017024730.1:c.477C>G, XM_005256677.3:c.477C>G, XM_005256677.2:c.477C>G, XM_005256677.1:c.477C>G, XM_017024731.3:c.477C>G, XM_017024731.2:c.477C>G, XM_017024731.1:c.477C>G, XM_017024732.3:c.477C>G, XM_017024732.2:c.477C>G, XM_017024732.1:c.477C>G, XM_011523923.3:c.477C>G, XM_011523923.2:c.477C>G, XM_011523923.1:c.477C>G, XM_047436219.1:c.477C>G, XM_047436216.1:c.477C>G, XM_047436217.1:c.477C>G, NM_015930.1:c.477C>G, XM_047436220.1:c.477C>G, XP_005256735.1:p.Asp159Glu, XP_006721604.1:p.Asp159Glu, NP_057197.2:p.Asp159Glu, XP_006721606.1:p.Asp159Glu, XP_005256733.1:p.Asp159Glu, XP_011522224.1:p.Asp159Glu, XP_016880219.1:p.Asp159Glu, XP_005256734.1:p.Asp159Glu, XP_016880220.1:p.Asp159Glu, XP_016880221.1:p.Asp159Glu, XP_011522225.1:p.Asp159Glu, XP_047292175.1:p.Asp159Glu, XP_047292172.1:p.Asp159Glu, XP_047292173.1:p.Asp159Glu, XP_047292176.1:p.Asp159Glu

            6.

            rs1485223226 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              17:16428891 (GRCh38)
              17:16332205 (GRCh37)
              Canonical SPDI:
              NC_000017.11:16428890:T:G
              Gene:
              TRPV2 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000021/3 (GnomAD)
              HGVS:
              NC_000017.11:g.16428891T>G, NC_000017.10:g.16332205T>G, XM_005256678.6:c.1496T>G, XM_005256678.5:c.1496T>G, XM_005256678.4:c.1496T>G, XM_005256678.3:c.1496T>G, XM_005256678.2:c.1496T>G, XM_005256678.1:c.1496T>G, XM_006721541.5:c.1496T>G, XM_006721541.4:c.1496T>G, XM_006721541.3:c.1496T>G, XM_006721541.2:c.1496T>G, XM_006721541.1:c.1496T>G, NM_016113.5:c.1496T>G, NM_016113.4:c.1496T>G, XM_006721543.5:c.1496T>G, XM_006721543.4:c.1496T>G, XM_006721543.3:c.1496T>G, XM_006721543.2:c.1496T>G, XM_006721543.1:c.1496T>G, XM_005256676.3:c.1493T>G, XM_005256676.2:c.1493T>G, XM_005256676.1:c.1493T>G, XM_011523922.3:c.1496T>G, XM_011523922.2:c.1496T>G, XM_011523922.1:c.1496T>G, XM_017024730.3:c.1493T>G, XM_017024730.2:c.1493T>G, XM_017024730.1:c.1493T>G, XM_005256677.3:c.1496T>G, XM_005256677.2:c.1496T>G, XM_005256677.1:c.1496T>G, XM_017024731.3:c.1493T>G, XM_017024731.2:c.1493T>G, XM_017024731.1:c.1493T>G, XM_017024732.3:c.1496T>G, XM_017024732.2:c.1496T>G, XM_017024732.1:c.1496T>G, XM_011523923.3:c.1496T>G, XM_011523923.2:c.1496T>G, XM_011523923.1:c.1496T>G, XM_011523925.3:c.206T>G, XM_011523925.2:c.206T>G, XM_011523925.1:c.206T>G, XM_047436219.1:c.1493T>G, XM_047436216.1:c.1493T>G, XM_047436217.1:c.1496T>G, NM_015930.1:c.1496T>G, XP_005256735.1:p.Leu499Arg, XP_006721604.1:p.Leu499Arg, NP_057197.2:p.Leu499Arg, XP_006721606.1:p.Leu499Arg, XP_005256733.1:p.Leu498Arg, XP_011522224.1:p.Leu499Arg, XP_016880219.1:p.Leu498Arg, XP_005256734.1:p.Leu499Arg, XP_016880220.1:p.Leu498Arg, XP_016880221.1:p.Leu499Arg, XP_011522225.1:p.Leu499Arg, XP_011522227.1:p.Leu69Arg, XP_047292175.1:p.Leu498Arg, XP_047292172.1:p.Leu498Arg, XP_047292173.1:p.Leu499Arg

              7.

              rs1483088829 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,C [Show Flanks]
                Chromosome:
                17:16434915 (GRCh38)
                17:16338229 (GRCh37)
                Canonical SPDI:
                NC_000017.11:16434914:T:A,NC_000017.11:16434914:T:C
                Gene:
                TRPV2 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000017.11:g.16434915T>A, NC_000017.11:g.16434915T>C, NC_000017.10:g.16338229T>A, NC_000017.10:g.16338229T>C, XM_006721541.5:c.2140T>A, XM_006721541.5:c.2140T>C, XM_006721541.4:c.2140T>A, XM_006721541.4:c.2140T>C, XM_006721541.3:c.2140T>A, XM_006721541.3:c.2140T>C, XM_006721541.2:c.2140T>A, XM_006721541.2:c.2140T>C, XM_006721541.1:c.2140T>A, XM_006721541.1:c.2140T>C, NM_016113.5:c.2140T>A, NM_016113.5:c.2140T>C, NM_016113.4:c.2140T>A, NM_016113.4:c.2140T>C, XM_006721543.5:c.2015T>A, XM_006721543.5:c.2015T>C, XM_006721543.4:c.2015T>A, XM_006721543.4:c.2015T>C, XM_006721543.3:c.2015T>A, XM_006721543.3:c.2015T>C, XM_006721543.2:c.2015T>A, XM_006721543.2:c.2015T>C, XM_006721543.1:c.2015T>A, XM_006721543.1:c.2015T>C, XM_005256676.3:c.2137T>A, XM_005256676.3:c.2137T>C, XM_005256676.2:c.2137T>A, XM_005256676.2:c.2137T>C, XM_005256676.1:c.2137T>A, XM_005256676.1:c.2137T>C, XM_017024730.3:c.2012T>A, XM_017024730.3:c.2012T>C, XM_017024730.2:c.2012T>A, XM_017024730.2:c.2012T>C, XM_017024730.1:c.2012T>A, XM_017024730.1:c.2012T>C, XM_005256677.3:c.1738T>A, XM_005256677.3:c.1738T>C, XM_005256677.2:c.1738T>A, XM_005256677.2:c.1738T>C, XM_005256677.1:c.1738T>A, XM_005256677.1:c.1738T>C, XM_017024731.3:c.1735T>A, XM_017024731.3:c.1735T>C, XM_017024731.2:c.1735T>A, XM_017024731.2:c.1735T>C, XM_017024731.1:c.1735T>A, XM_017024731.1:c.1735T>C, XM_011523925.3:c.850T>A, XM_011523925.3:c.850T>C, XM_011523925.2:c.850T>A, XM_011523925.2:c.850T>C, XM_011523925.1:c.850T>A, XM_011523925.1:c.850T>C, XM_047436217.1:c.2015T>A, XM_047436217.1:c.2015T>C, NM_015930.1:c.2140T>A, NM_015930.1:c.2140T>C, XP_006721604.1:p.Trp714Arg, XP_006721604.1:p.Trp714Arg, NP_057197.2:p.Trp714Arg, NP_057197.2:p.Trp714Arg, XP_006721606.1:p.Met672Lys, XP_006721606.1:p.Met672Thr, XP_005256733.1:p.Trp713Arg, XP_005256733.1:p.Trp713Arg, XP_016880219.1:p.Met671Lys, XP_016880219.1:p.Met671Thr, XP_005256734.1:p.Trp580Arg, XP_005256734.1:p.Trp580Arg, XP_016880220.1:p.Trp579Arg, XP_016880220.1:p.Trp579Arg, XP_011522227.1:p.Trp284Arg, XP_011522227.1:p.Trp284Arg, XP_047292173.1:p.Met672Lys, XP_047292173.1:p.Met672Thr

                8.

                rs1481626342 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  17:16417779 (GRCh38)
                  17:16321093 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:16417778:T:C
                  Gene:
                  TRPV2 (Varview)
                  Functional Consequence:
                  synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0.000047/1 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000017.11:g.16417779T>C, NC_000017.10:g.16321093T>C, XM_005256678.6:c.111T>C, XM_005256678.5:c.111T>C, XM_005256678.4:c.111T>C, XM_005256678.3:c.111T>C, XM_005256678.2:c.111T>C, XM_005256678.1:c.111T>C, XM_006721541.5:c.111T>C, XM_006721541.4:c.111T>C, XM_006721541.3:c.111T>C, XM_006721541.2:c.111T>C, XM_006721541.1:c.111T>C, NM_016113.5:c.111T>C, NM_016113.4:c.111T>C, XM_006721543.5:c.111T>C, XM_006721543.4:c.111T>C, XM_006721543.3:c.111T>C, XM_006721543.2:c.111T>C, XM_006721543.1:c.111T>C, XM_005256676.3:c.111T>C, XM_005256676.2:c.111T>C, XM_005256676.1:c.111T>C, XM_011523922.3:c.111T>C, XM_011523922.2:c.111T>C, XM_011523922.1:c.111T>C, XM_017024730.3:c.111T>C, XM_017024730.2:c.111T>C, XM_017024730.1:c.111T>C, XM_005256677.3:c.111T>C, XM_005256677.2:c.111T>C, XM_005256677.1:c.111T>C, XM_017024731.3:c.111T>C, XM_017024731.2:c.111T>C, XM_017024731.1:c.111T>C, XM_017024732.3:c.111T>C, XM_017024732.2:c.111T>C, XM_017024732.1:c.111T>C, XM_011523923.3:c.111T>C, XM_011523923.2:c.111T>C, XM_011523923.1:c.111T>C, XM_047436219.1:c.111T>C, XM_047436216.1:c.111T>C, XM_047436217.1:c.111T>C, NM_015930.1:c.111T>C, XM_047436220.1:c.111T>C

                  9.

                  rs1479792611 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    17:16423753 (GRCh38)
                    17:16327067 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:16423752:G:A
                    Gene:
                    TRPV2 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000009/2 (GnomAD_exomes)
                    HGVS:
                    NC_000017.11:g.16423753G>A, NC_000017.10:g.16327067G>A, XM_005256678.6:c.910G>A, XM_005256678.5:c.910G>A, XM_005256678.4:c.910G>A, XM_005256678.3:c.910G>A, XM_005256678.2:c.910G>A, XM_005256678.1:c.910G>A, XM_006721541.5:c.910G>A, XM_006721541.4:c.910G>A, XM_006721541.3:c.910G>A, XM_006721541.2:c.910G>A, XM_006721541.1:c.910G>A, NM_016113.5:c.910G>A, NM_016113.4:c.910G>A, XM_006721543.5:c.910G>A, XM_006721543.4:c.910G>A, XM_006721543.3:c.910G>A, XM_006721543.2:c.910G>A, XM_006721543.1:c.910G>A, XM_005256676.3:c.910G>A, XM_005256676.2:c.910G>A, XM_005256676.1:c.910G>A, XM_011523922.3:c.910G>A, XM_011523922.2:c.910G>A, XM_011523922.1:c.910G>A, XM_017024730.3:c.910G>A, XM_017024730.2:c.910G>A, XM_017024730.1:c.910G>A, XM_005256677.3:c.910G>A, XM_005256677.2:c.910G>A, XM_005256677.1:c.910G>A, XM_017024731.3:c.910G>A, XM_017024731.2:c.910G>A, XM_017024731.1:c.910G>A, XM_017024732.3:c.910G>A, XM_017024732.2:c.910G>A, XM_017024732.1:c.910G>A, XM_011523923.3:c.910G>A, XM_011523923.2:c.910G>A, XM_011523923.1:c.910G>A, XM_047436219.1:c.910G>A, XM_047436216.1:c.910G>A, XM_047436217.1:c.910G>A, NM_015930.1:c.910G>A, XM_047436220.1:c.910G>A, XP_005256735.1:p.Glu304Lys, XP_006721604.1:p.Glu304Lys, NP_057197.2:p.Glu304Lys, XP_006721606.1:p.Glu304Lys, XP_005256733.1:p.Glu304Lys, XP_011522224.1:p.Glu304Lys, XP_016880219.1:p.Glu304Lys, XP_005256734.1:p.Glu304Lys, XP_016880220.1:p.Glu304Lys, XP_016880221.1:p.Glu304Lys, XP_011522225.1:p.Glu304Lys, XP_047292175.1:p.Glu304Lys, XP_047292172.1:p.Glu304Lys, XP_047292173.1:p.Glu304Lys, XP_047292176.1:p.Glu304Lys

                    10.

                    rs1479543534 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      17:16432297 (GRCh38)
                      17:16335611 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:16432296:G:A
                      Gene:
                      TRPV2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:

                      11.

                      rs1479207350 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        17:16431822 (GRCh38)
                        17:16335136 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:16431821:C:T
                        Gene:
                        TRPV2 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1478605214 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          17:16426184 (GRCh38)
                          17:16329498 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:16426183:G:A
                          Gene:
                          TRPV2 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000017.11:g.16426184G>A, NC_000017.10:g.16329498G>A, XM_005256678.6:c.1010G>A, XM_005256678.5:c.1010G>A, XM_005256678.4:c.1010G>A, XM_005256678.3:c.1010G>A, XM_005256678.2:c.1010G>A, XM_005256678.1:c.1010G>A, XM_006721541.5:c.1010G>A, XM_006721541.4:c.1010G>A, XM_006721541.3:c.1010G>A, XM_006721541.2:c.1010G>A, XM_006721541.1:c.1010G>A, NM_016113.5:c.1010G>A, NM_016113.4:c.1010G>A, XM_006721543.5:c.1010G>A, XM_006721543.4:c.1010G>A, XM_006721543.3:c.1010G>A, XM_006721543.2:c.1010G>A, XM_006721543.1:c.1010G>A, XM_005256676.3:c.1010G>A, XM_005256676.2:c.1010G>A, XM_005256676.1:c.1010G>A, XM_011523922.3:c.1010G>A, XM_011523922.2:c.1010G>A, XM_011523922.1:c.1010G>A, XM_017024730.3:c.1010G>A, XM_017024730.2:c.1010G>A, XM_017024730.1:c.1010G>A, XM_005256677.3:c.1010G>A, XM_005256677.2:c.1010G>A, XM_005256677.1:c.1010G>A, XM_017024731.3:c.1010G>A, XM_017024731.2:c.1010G>A, XM_017024731.1:c.1010G>A, XM_017024732.3:c.1010G>A, XM_017024732.2:c.1010G>A, XM_017024732.1:c.1010G>A, XM_011523923.3:c.1010G>A, XM_011523923.2:c.1010G>A, XM_011523923.1:c.1010G>A, XM_047436219.1:c.1010G>A, XM_047436216.1:c.1010G>A, XM_047436217.1:c.1010G>A, NM_015930.1:c.1010G>A, XM_047436220.1:c.1010G>A, XP_005256735.1:p.Arg337Gln, XP_006721604.1:p.Arg337Gln, NP_057197.2:p.Arg337Gln, XP_006721606.1:p.Arg337Gln, XP_005256733.1:p.Arg337Gln, XP_011522224.1:p.Arg337Gln, XP_016880219.1:p.Arg337Gln, XP_005256734.1:p.Arg337Gln, XP_016880220.1:p.Arg337Gln, XP_016880221.1:p.Arg337Gln, XP_011522225.1:p.Arg337Gln, XP_047292175.1:p.Arg337Gln, XP_047292172.1:p.Arg337Gln, XP_047292173.1:p.Arg337Gln, XP_047292176.1:p.Arg337Gln

                          13.

                          rs1478553540 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            17:16422757 (GRCh38)
                            17:16326071 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:16422756:A:G
                            Gene:
                            TRPV2 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000005/1 (GnomAD_exomes)
                            HGVS:
                            NC_000017.11:g.16422757A>G, NC_000017.10:g.16326071A>G, XM_005256678.6:c.493A>G, XM_005256678.5:c.493A>G, XM_005256678.4:c.493A>G, XM_005256678.3:c.493A>G, XM_005256678.2:c.493A>G, XM_005256678.1:c.493A>G, XM_006721541.5:c.493A>G, XM_006721541.4:c.493A>G, XM_006721541.3:c.493A>G, XM_006721541.2:c.493A>G, XM_006721541.1:c.493A>G, NM_016113.5:c.493A>G, NM_016113.4:c.493A>G, XM_006721543.5:c.493A>G, XM_006721543.4:c.493A>G, XM_006721543.3:c.493A>G, XM_006721543.2:c.493A>G, XM_006721543.1:c.493A>G, XM_005256676.3:c.493A>G, XM_005256676.2:c.493A>G, XM_005256676.1:c.493A>G, XM_011523922.3:c.493A>G, XM_011523922.2:c.493A>G, XM_011523922.1:c.493A>G, XM_017024730.3:c.493A>G, XM_017024730.2:c.493A>G, XM_017024730.1:c.493A>G, XM_005256677.3:c.493A>G, XM_005256677.2:c.493A>G, XM_005256677.1:c.493A>G, XM_017024731.3:c.493A>G, XM_017024731.2:c.493A>G, XM_017024731.1:c.493A>G, XM_017024732.3:c.493A>G, XM_017024732.2:c.493A>G, XM_017024732.1:c.493A>G, XM_011523923.3:c.493A>G, XM_011523923.2:c.493A>G, XM_011523923.1:c.493A>G, XM_047436219.1:c.493A>G, XM_047436216.1:c.493A>G, XM_047436217.1:c.493A>G, NM_015930.1:c.493A>G, XM_047436220.1:c.493A>G, XP_005256735.1:p.Ser165Gly, XP_006721604.1:p.Ser165Gly, NP_057197.2:p.Ser165Gly, XP_006721606.1:p.Ser165Gly, XP_005256733.1:p.Ser165Gly, XP_011522224.1:p.Ser165Gly, XP_016880219.1:p.Ser165Gly, XP_005256734.1:p.Ser165Gly, XP_016880220.1:p.Ser165Gly, XP_016880221.1:p.Ser165Gly, XP_011522225.1:p.Ser165Gly, XP_047292175.1:p.Ser165Gly, XP_047292172.1:p.Ser165Gly, XP_047292173.1:p.Ser165Gly, XP_047292176.1:p.Ser165Gly

                            14.

                            rs1477218052 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              17:16434908 (GRCh38)
                              17:16338222 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:16434907:G:T
                              Gene:
                              TRPV2 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000017.11:g.16434908G>T, NC_000017.10:g.16338222G>T, XM_006721541.5:c.2133G>T, XM_006721541.4:c.2133G>T, XM_006721541.3:c.2133G>T, XM_006721541.2:c.2133G>T, XM_006721541.1:c.2133G>T, NM_016113.5:c.2133G>T, NM_016113.4:c.2133G>T, XM_006721543.5:c.2008G>T, XM_006721543.4:c.2008G>T, XM_006721543.3:c.2008G>T, XM_006721543.2:c.2008G>T, XM_006721543.1:c.2008G>T, XM_005256676.3:c.2130G>T, XM_005256676.2:c.2130G>T, XM_005256676.1:c.2130G>T, XM_017024730.3:c.2005G>T, XM_017024730.2:c.2005G>T, XM_017024730.1:c.2005G>T, XM_005256677.3:c.1731G>T, XM_005256677.2:c.1731G>T, XM_005256677.1:c.1731G>T, XM_017024731.3:c.1728G>T, XM_017024731.2:c.1728G>T, XM_017024731.1:c.1728G>T, XM_011523925.3:c.843G>T, XM_011523925.2:c.843G>T, XM_011523925.1:c.843G>T, XM_047436217.1:c.2008G>T, NM_015930.1:c.2133G>T, XP_006721604.1:p.Trp711Cys, NP_057197.2:p.Trp711Cys, XP_006721606.1:p.Gly670Cys, XP_005256733.1:p.Trp710Cys, XP_016880219.1:p.Gly669Cys, XP_005256734.1:p.Trp577Cys, XP_016880220.1:p.Trp576Cys, XP_011522227.1:p.Trp281Cys, XP_047292173.1:p.Gly670Cys

                              15.

                              rs1477108390 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                17:16428903 (GRCh38)
                                17:16332217 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:16428902:T:A
                                Gene:
                                TRPV2 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000017.11:g.16428903T>A, NC_000017.10:g.16332217T>A, XM_005256678.6:c.1508T>A, XM_005256678.5:c.1508T>A, XM_005256678.4:c.1508T>A, XM_005256678.3:c.1508T>A, XM_005256678.2:c.1508T>A, XM_005256678.1:c.1508T>A, XM_006721541.5:c.1508T>A, XM_006721541.4:c.1508T>A, XM_006721541.3:c.1508T>A, XM_006721541.2:c.1508T>A, XM_006721541.1:c.1508T>A, NM_016113.5:c.1508T>A, NM_016113.4:c.1508T>A, XM_006721543.5:c.1508T>A, XM_006721543.4:c.1508T>A, XM_006721543.3:c.1508T>A, XM_006721543.2:c.1508T>A, XM_006721543.1:c.1508T>A, XM_005256676.3:c.1505T>A, XM_005256676.2:c.1505T>A, XM_005256676.1:c.1505T>A, XM_011523922.3:c.1508T>A, XM_011523922.2:c.1508T>A, XM_011523922.1:c.1508T>A, XM_017024730.3:c.1505T>A, XM_017024730.2:c.1505T>A, XM_017024730.1:c.1505T>A, XM_005256677.3:c.1508T>A, XM_005256677.2:c.1508T>A, XM_005256677.1:c.1508T>A, XM_017024731.3:c.1505T>A, XM_017024731.2:c.1505T>A, XM_017024731.1:c.1505T>A, XM_017024732.3:c.1508T>A, XM_017024732.2:c.1508T>A, XM_017024732.1:c.1508T>A, XM_011523923.3:c.1508T>A, XM_011523923.2:c.1508T>A, XM_011523923.1:c.1508T>A, XM_011523925.3:c.218T>A, XM_011523925.2:c.218T>A, XM_011523925.1:c.218T>A, XM_047436219.1:c.1505T>A, XM_047436216.1:c.1505T>A, XM_047436217.1:c.1508T>A, NM_015930.1:c.1508T>A, XP_005256735.1:p.Leu503Gln, XP_006721604.1:p.Leu503Gln, NP_057197.2:p.Leu503Gln, XP_006721606.1:p.Leu503Gln, XP_005256733.1:p.Leu502Gln, XP_011522224.1:p.Leu503Gln, XP_016880219.1:p.Leu502Gln, XP_005256734.1:p.Leu503Gln, XP_016880220.1:p.Leu502Gln, XP_016880221.1:p.Leu503Gln, XP_011522225.1:p.Leu503Gln, XP_011522227.1:p.Leu73Gln, XP_047292175.1:p.Leu502Gln, XP_047292172.1:p.Leu502Gln, XP_047292173.1:p.Leu503Gln

                                16.

                                rs1474958686 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  17:16420190 (GRCh38)
                                  17:16323504 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:16420189:T:G
                                  Gene:
                                  TRPV2 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000017.11:g.16420190T>G, NC_000017.10:g.16323504T>G, XM_005256678.6:c.276T>G, XM_005256678.5:c.276T>G, XM_005256678.4:c.276T>G, XM_005256678.3:c.276T>G, XM_005256678.2:c.276T>G, XM_005256678.1:c.276T>G, XM_006721541.5:c.276T>G, XM_006721541.4:c.276T>G, XM_006721541.3:c.276T>G, XM_006721541.2:c.276T>G, XM_006721541.1:c.276T>G, NM_016113.5:c.276T>G, NM_016113.4:c.276T>G, XM_006721543.5:c.276T>G, XM_006721543.4:c.276T>G, XM_006721543.3:c.276T>G, XM_006721543.2:c.276T>G, XM_006721543.1:c.276T>G, XM_005256676.3:c.276T>G, XM_005256676.2:c.276T>G, XM_005256676.1:c.276T>G, XM_011523922.3:c.276T>G, XM_011523922.2:c.276T>G, XM_011523922.1:c.276T>G, XM_017024730.3:c.276T>G, XM_017024730.2:c.276T>G, XM_017024730.1:c.276T>G, XM_005256677.3:c.276T>G, XM_005256677.2:c.276T>G, XM_005256677.1:c.276T>G, XM_017024731.3:c.276T>G, XM_017024731.2:c.276T>G, XM_017024731.1:c.276T>G, XM_017024732.3:c.276T>G, XM_017024732.2:c.276T>G, XM_017024732.1:c.276T>G, XM_011523923.3:c.276T>G, XM_011523923.2:c.276T>G, XM_011523923.1:c.276T>G, XM_047436219.1:c.276T>G, XM_047436216.1:c.276T>G, XM_047436217.1:c.276T>G, NM_015930.1:c.276T>G, XM_047436220.1:c.276T>G

                                  17.

                                  rs1474296986 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    17:16432038 (GRCh38)
                                    17:16335352 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:16432037:A:G
                                    Gene:
                                    TRPV2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000017.11:g.16432038A>G, NC_000017.10:g.16335352A>G, XM_006721541.5:c.1727A>G, XM_006721541.4:c.1727A>G, XM_006721541.3:c.1727A>G, XM_006721541.2:c.1727A>G, XM_006721541.1:c.1727A>G, NM_016113.5:c.1727A>G, NM_016113.4:c.1727A>G, XM_006721543.5:c.1727A>G, XM_006721543.4:c.1727A>G, XM_006721543.3:c.1727A>G, XM_006721543.2:c.1727A>G, XM_006721543.1:c.1727A>G, XM_005256676.3:c.1724A>G, XM_005256676.2:c.1724A>G, XM_005256676.1:c.1724A>G, XM_011523922.3:c.1727A>G, XM_011523922.2:c.1727A>G, XM_011523922.1:c.1727A>G, XM_017024730.3:c.1724A>G, XM_017024730.2:c.1724A>G, XM_017024730.1:c.1724A>G, XM_011523923.3:c.*64A>G, XM_011523923.2:c.*64A>G, XM_011523923.1:c.*64A>G, XM_011523925.3:c.437A>G, XM_011523925.2:c.437A>G, XM_011523925.1:c.437A>G, XM_047436216.1:c.1724A>G, XM_047436217.1:c.1727A>G, NM_015930.1:c.1727A>G, XP_006721604.1:p.Gln576Arg, NP_057197.2:p.Gln576Arg, XP_006721606.1:p.Gln576Arg, XP_005256733.1:p.Gln575Arg, XP_011522224.1:p.Gln576Arg, XP_016880219.1:p.Gln575Arg, XP_011522227.1:p.Gln146Arg, XP_047292172.1:p.Gln575Arg, XP_047292173.1:p.Gln576Arg

                                    18.

                                    rs1472937582 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      17:16422817 (GRCh38)
                                      17:16326131 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:16422816:A:G
                                      Gene:
                                      TRPV2 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      G=0.000005/1 (GnomAD_exomes)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000017.11:g.16422817A>G, NC_000017.10:g.16326131A>G, XM_005256678.6:c.553A>G, XM_005256678.5:c.553A>G, XM_005256678.4:c.553A>G, XM_005256678.3:c.553A>G, XM_005256678.2:c.553A>G, XM_005256678.1:c.553A>G, XM_006721541.5:c.553A>G, XM_006721541.4:c.553A>G, XM_006721541.3:c.553A>G, XM_006721541.2:c.553A>G, XM_006721541.1:c.553A>G, NM_016113.5:c.553A>G, NM_016113.4:c.553A>G, XM_006721543.5:c.553A>G, XM_006721543.4:c.553A>G, XM_006721543.3:c.553A>G, XM_006721543.2:c.553A>G, XM_006721543.1:c.553A>G, XM_005256676.3:c.553A>G, XM_005256676.2:c.553A>G, XM_005256676.1:c.553A>G, XM_011523922.3:c.553A>G, XM_011523922.2:c.553A>G, XM_011523922.1:c.553A>G, XM_017024730.3:c.553A>G, XM_017024730.2:c.553A>G, XM_017024730.1:c.553A>G, XM_005256677.3:c.553A>G, XM_005256677.2:c.553A>G, XM_005256677.1:c.553A>G, XM_017024731.3:c.553A>G, XM_017024731.2:c.553A>G, XM_017024731.1:c.553A>G, XM_017024732.3:c.553A>G, XM_017024732.2:c.553A>G, XM_017024732.1:c.553A>G, XM_011523923.3:c.553A>G, XM_011523923.2:c.553A>G, XM_011523923.1:c.553A>G, XM_047436219.1:c.553A>G, XM_047436216.1:c.553A>G, XM_047436217.1:c.553A>G, NM_015930.1:c.553A>G, XM_047436220.1:c.553A>G, XP_005256735.1:p.Asn185Asp, XP_006721604.1:p.Asn185Asp, NP_057197.2:p.Asn185Asp, XP_006721606.1:p.Asn185Asp, XP_005256733.1:p.Asn185Asp, XP_011522224.1:p.Asn185Asp, XP_016880219.1:p.Asn185Asp, XP_005256734.1:p.Asn185Asp, XP_016880220.1:p.Asn185Asp, XP_016880221.1:p.Asn185Asp, XP_011522225.1:p.Asn185Asp, XP_047292175.1:p.Asn185Asp, XP_047292172.1:p.Asn185Asp, XP_047292173.1:p.Asn185Asp, XP_047292176.1:p.Asn185Asp

                                      19.

                                      rs1469931762 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        17:16433581 (GRCh38)
                                        17:16336895 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:16433580:T:A
                                        Gene:
                                        TRPV2 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000017.11:g.16433581T>A, NC_000017.10:g.16336895T>A, XM_006721541.5:c.1997T>A, XM_006721541.4:c.1997T>A, XM_006721541.3:c.1997T>A, XM_006721541.2:c.1997T>A, XM_006721541.1:c.1997T>A, NM_016113.5:c.1997T>A, NM_016113.4:c.1997T>A, XM_005256676.3:c.1994T>A, XM_005256676.2:c.1994T>A, XM_005256676.1:c.1994T>A, XM_011523922.3:c.1997T>A, XM_011523922.2:c.1997T>A, XM_011523922.1:c.1997T>A, XM_005256677.3:c.1595T>A, XM_005256677.2:c.1595T>A, XM_005256677.1:c.1595T>A, XM_017024731.3:c.1592T>A, XM_017024731.2:c.1592T>A, XM_017024731.1:c.1592T>A, XM_017024732.3:c.1595T>A, XM_017024732.2:c.1595T>A, XM_017024732.1:c.1595T>A, XM_011523925.3:c.707T>A, XM_011523925.2:c.707T>A, XM_011523925.1:c.707T>A, XM_047436216.1:c.1994T>A, NM_015930.1:c.1997T>A, XP_006721604.1:p.Ile666Asn, NP_057197.2:p.Ile666Asn, XP_005256733.1:p.Ile665Asn, XP_011522224.1:p.Ile666Asn, XP_005256734.1:p.Ile532Asn, XP_016880220.1:p.Ile531Asn, XP_016880221.1:p.Ile532Asn, XP_011522227.1:p.Ile236Asn, XP_047292172.1:p.Ile665Asn

                                        20.

                                        rs1469725071 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          17:16432274 (GRCh38)
                                          17:16335588 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:16432273:G:A
                                          Gene:
                                          TRPV2 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000017.11:g.16432274G>A, NC_000017.10:g.16335588G>A, XM_006721541.5:c.1963G>A, XM_006721541.4:c.1963G>A, XM_006721541.3:c.1963G>A, XM_006721541.2:c.1963G>A, XM_006721541.1:c.1963G>A, NM_016113.5:c.1963G>A, NM_016113.4:c.1963G>A, XM_006721543.5:c.1963G>A, XM_006721543.4:c.1963G>A, XM_006721543.3:c.1963G>A, XM_006721543.2:c.1963G>A, XM_006721543.1:c.1963G>A, XM_005256676.3:c.1960G>A, XM_005256676.2:c.1960G>A, XM_005256676.1:c.1960G>A, XM_011523922.3:c.1963G>A, XM_011523922.2:c.1963G>A, XM_011523922.1:c.1963G>A, XM_017024730.3:c.1960G>A, XM_017024730.2:c.1960G>A, XM_017024730.1:c.1960G>A, XM_011523925.3:c.673G>A, XM_011523925.2:c.673G>A, XM_011523925.1:c.673G>A, XM_047436216.1:c.1960G>A, XM_047436217.1:c.1963G>A, NM_015930.1:c.1963G>A, XP_006721604.1:p.Asp655Asn, NP_057197.2:p.Asp655Asn, XP_006721606.1:p.Asp655Asn, XP_005256733.1:p.Asp654Asn, XP_011522224.1:p.Asp655Asn, XP_016880219.1:p.Asp654Asn, XP_011522227.1:p.Asp225Asn, XP_047292172.1:p.Asp654Asn, XP_047292173.1:p.Asp655Asn

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