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Items: 1 to 20 of 1453

1.

rs1490972795 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    9:95485762 (GRCh38)
    9:98248044 (GRCh37)
    Canonical SPDI:
    NC_000009.12:95485761:G:A,NC_000009.12:95485761:G:C
    Gene:
    PTCH1 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
    Clinical significance:
    likely-benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000011/3 (TOPMED)
    HGVS:
    NC_000009.12:g.95485762G>A, NC_000009.12:g.95485762G>C, NC_000009.11:g.98248044G>A, NC_000009.11:g.98248044G>C, NG_007664.1:g.36204C>T, NG_007664.1:g.36204C>G, NM_000264.5:c.507C>T, NM_000264.5:c.507C>G, NM_000264.4:c.507C>T, NM_000264.4:c.507C>G, NM_000264.3:c.507C>T, NM_000264.3:c.507C>G, NM_001083602.3:c.309C>T, NM_001083602.3:c.309C>G, NM_001083602.2:c.309C>T, NM_001083602.2:c.309C>G, NM_001083602.1:c.309C>T, NM_001083602.1:c.309C>G, NM_001083603.3:c.504C>T, NM_001083603.3:c.504C>G, NM_001083603.2:c.504C>T, NM_001083603.2:c.504C>G, NM_001083603.1:c.504C>T, NM_001083603.1:c.504C>G, NM_001083607.3:c.54C>T, NM_001083607.3:c.54C>G, NM_001083607.2:c.54C>T, NM_001083607.2:c.54C>G, NM_001083607.1:c.54C>T, NM_001083607.1:c.54C>G, NM_001083606.3:c.54C>T, NM_001083606.3:c.54C>G, NM_001083606.2:c.54C>T, NM_001083606.2:c.54C>G, NM_001083606.1:c.54C>T, NM_001083606.1:c.54C>G, NM_001083604.3:c.54C>T, NM_001083604.3:c.54C>G, NM_001083604.2:c.54C>T, NM_001083604.2:c.54C>G, NM_001083604.1:c.54C>T, NM_001083604.1:c.54C>G, NM_001083605.3:c.54C>T, NM_001083605.3:c.54C>G, NM_001083605.2:c.54C>T, NM_001083605.2:c.54C>G, NM_001083605.1:c.54C>T, NM_001083605.1:c.54C>G, NM_001354918.2:c.507C>T, NM_001354918.2:c.507C>G, NM_001354918.1:c.507C>T, NM_001354918.1:c.507C>G, NR_149061.2:n.1412C>T, NR_149061.2:n.1412C>G, NR_149061.1:n.695C>T, NR_149061.1:n.695C>G, NM_001354919.2:c.309C>T, NM_001354919.2:c.309C>G, NM_001354919.1:c.309C>T, NM_001354919.1:c.309C>G
    2.

    rs1490482816 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C,T [Show Flanks]
      Chromosome:
      9:95506465 (GRCh38)
      9:98268747 (GRCh37)
      Canonical SPDI:
      NC_000009.12:95506464:G:A,NC_000009.12:95506464:G:C,NC_000009.12:95506464:G:T
      Gene:
      PTCH1 (Varview)
      Functional Consequence:
      missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      C=0.000007/1 (GnomAD)
      C=0.000023/6 (TOPMED)
      HGVS:
      NC_000009.12:g.95506465G>A, NC_000009.12:g.95506465G>C, NC_000009.12:g.95506465G>T, NC_000009.11:g.98268747G>A, NC_000009.11:g.98268747G>C, NC_000009.11:g.98268747G>T, NG_007664.1:g.15501C>T, NG_007664.1:g.15501C>G, NG_007664.1:g.15501C>A, NM_000264.5:c.336C>T, NM_000264.5:c.336C>G, NM_000264.5:c.336C>A, NM_000264.4:c.336C>T, NM_000264.4:c.336C>G, NM_000264.4:c.336C>A, NM_000264.3:c.336C>T, NM_000264.3:c.336C>G, NM_000264.3:c.336C>A, NM_001083602.3:c.138C>T, NM_001083602.3:c.138C>G, NM_001083602.3:c.138C>A, NM_001083602.2:c.138C>T, NM_001083602.2:c.138C>G, NM_001083602.2:c.138C>A, NM_001083602.1:c.138C>T, NM_001083602.1:c.138C>G, NM_001083602.1:c.138C>A, NM_001083603.3:c.333C>T, NM_001083603.3:c.333C>G, NM_001083603.3:c.333C>A, NM_001083603.2:c.333C>T, NM_001083603.2:c.333C>G, NM_001083603.2:c.333C>A, NM_001083603.1:c.333C>T, NM_001083603.1:c.333C>G, NM_001083603.1:c.333C>A, NM_001083607.3:c.-118C>T, NM_001083607.3:c.-118C>G, NM_001083607.3:c.-118C>A, NM_001083607.2:c.-118C>T, NM_001083607.2:c.-118C>G, NM_001083607.2:c.-118C>A, NM_001083607.1:c.-118C>T, NM_001083607.1:c.-118C>G, NM_001083607.1:c.-118C>A, NM_001083606.3:c.-118C>T, NM_001083606.3:c.-118C>G, NM_001083606.3:c.-118C>A, NM_001083606.2:c.-118C>T, NM_001083606.2:c.-118C>G, NM_001083606.2:c.-118C>A, NM_001083606.1:c.-118C>T, NM_001083606.1:c.-118C>G, NM_001083606.1:c.-118C>A, NM_001083604.3:c.-118C>T, NM_001083604.3:c.-118C>G, NM_001083604.3:c.-118C>A, NM_001083604.2:c.-118C>T, NM_001083604.2:c.-118C>G, NM_001083604.2:c.-118C>A, NM_001083604.1:c.-118C>T, NM_001083604.1:c.-118C>G, NM_001083604.1:c.-118C>A, NM_001083605.3:c.-118C>T, NM_001083605.3:c.-118C>G, NM_001083605.3:c.-118C>A, NM_001083605.2:c.-118C>T, NM_001083605.2:c.-118C>G, NM_001083605.2:c.-118C>A, NM_001083605.1:c.-118C>T, NM_001083605.1:c.-118C>G, NM_001083605.1:c.-118C>A, NM_001354918.2:c.336C>T, NM_001354918.2:c.336C>G, NM_001354918.2:c.336C>A, NM_001354918.1:c.336C>T, NM_001354918.1:c.336C>G, NM_001354918.1:c.336C>A, NR_149061.2:n.1241C>T, NR_149061.2:n.1241C>G, NR_149061.2:n.1241C>A, NR_149061.1:n.524C>T, NR_149061.1:n.524C>G, NR_149061.1:n.524C>A, NM_001354919.2:c.138C>T, NM_001354919.2:c.138C>G, NM_001354919.2:c.138C>A, NM_001354919.1:c.138C>T, NM_001354919.1:c.138C>G, NM_001354919.1:c.138C>A, NP_000255.2:p.Phe112Leu, NP_000255.2:p.Phe112Leu, NP_001077071.1:p.Phe46Leu, NP_001077071.1:p.Phe46Leu, NP_001077072.1:p.Phe111Leu, NP_001077072.1:p.Phe111Leu, NP_001341847.1:p.Phe112Leu, NP_001341847.1:p.Phe112Leu, NP_001341848.1:p.Phe46Leu, NP_001341848.1:p.Phe46Leu
      3.

      rs1489690325 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TGA>- [Show Flanks]
        Chromosome:
        9:95478179 (GRCh38)
        9:98240461 (GRCh37)
        Canonical SPDI:
        NC_000009.12:95478175:TGATGA:TGA
        Gene:
        PTCH1 (Varview)
        Functional Consequence:
        coding_sequence_variant,inframe_deletion,non_coding_transcript_variant,genic_downstream_transcript_variant
        Clinical significance:
        uncertain-significance
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TGATGA=0./0 (ALFA)
        -=0.000004/1 (GnomAD_exomes)
        -=0.000011/3 (TOPMED)
        -=0.000014/2 (GnomAD)
        HGVS:
        NC_000009.12:g.95478176TGA[1], NC_000009.11:g.98240458TGA[1], NG_007664.1:g.43785TCA[1], NM_000264.5:c.1221TCA[1], NM_000264.4:c.1221TCA[1], NM_000264.3:c.1221TCA[1], NM_001083602.3:c.1023TCA[1], NM_001083602.2:c.1023TCA[1], NM_001083602.1:c.1023TCA[1], NM_001083603.3:c.1218TCA[1], NM_001083603.2:c.1218TCA[1], NM_001083603.1:c.1218TCA[1], NM_001083607.3:c.768TCA[1], NM_001083607.2:c.768TCA[1], NM_001083607.1:c.768TCA[1], NM_001083606.3:c.768TCA[1], NM_001083606.2:c.768TCA[1], NM_001083606.1:c.768TCA[1], NM_001083604.3:c.768TCA[1], NM_001083604.2:c.768TCA[1], NM_001083604.1:c.768TCA[1], NM_001083605.3:c.768TCA[1], NM_001083605.2:c.768TCA[1], NM_001083605.1:c.768TCA[1], NM_001354918.2:c.1221TCA[1], NM_001354918.1:c.1221TCA[1], NR_149061.2:n.2126TCA[1], NR_149061.1:n.1409TCA[1], NP_000255.2:p.His408del, NP_001077071.1:p.His342del, NP_001077072.1:p.His407del, NP_001077076.1:p.His257del, NP_001077075.1:p.His257del, NP_001077073.1:p.His257del, NP_001077074.1:p.His257del, NP_001341847.1:p.His408del
        4.

        rs1487503503 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,G,T [Show Flanks]
          Chromosome:
          9:95461898 (GRCh38)
          9:98224180 (GRCh37)
          Canonical SPDI:
          NC_000009.12:95461897:C:A,NC_000009.12:95461897:C:G,NC_000009.12:95461897:C:T
          Gene:
          PTCH1 (Varview), LOC100507346 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,2KB_upstream_variant
          Clinical significance:
          likely-benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000009.12:g.95461898C>A, NC_000009.12:g.95461898C>G, NC_000009.12:g.95461898C>T, NC_000009.11:g.98224180C>A, NC_000009.11:g.98224180C>G, NC_000009.11:g.98224180C>T, NG_007664.1:g.60068G>T, NG_007664.1:g.60068G>C, NG_007664.1:g.60068G>A, NM_000264.5:c.2661G>T, NM_000264.5:c.2661G>C, NM_000264.5:c.2661G>A, NM_000264.4:c.2661G>T, NM_000264.4:c.2661G>C, NM_000264.4:c.2661G>A, NM_000264.3:c.2661G>T, NM_000264.3:c.2661G>C, NM_000264.3:c.2661G>A, NM_001083602.3:c.2463G>T, NM_001083602.3:c.2463G>C, NM_001083602.3:c.2463G>A, NM_001083602.2:c.2463G>T, NM_001083602.2:c.2463G>C, NM_001083602.2:c.2463G>A, NM_001083602.1:c.2463G>T, NM_001083602.1:c.2463G>C, NM_001083602.1:c.2463G>A, NM_001083603.3:c.2658G>T, NM_001083603.3:c.2658G>C, NM_001083603.3:c.2658G>A, NM_001083603.2:c.2658G>T, NM_001083603.2:c.2658G>C, NM_001083603.2:c.2658G>A, NM_001083603.1:c.2658G>T, NM_001083603.1:c.2658G>C, NM_001083603.1:c.2658G>A, NM_001083607.3:c.2208G>T, NM_001083607.3:c.2208G>C, NM_001083607.3:c.2208G>A, NM_001083607.2:c.2208G>T, NM_001083607.2:c.2208G>C, NM_001083607.2:c.2208G>A, NM_001083607.1:c.2208G>T, NM_001083607.1:c.2208G>C, NM_001083607.1:c.2208G>A, NM_001083606.3:c.2208G>T, NM_001083606.3:c.2208G>C, NM_001083606.3:c.2208G>A, NM_001083606.2:c.2208G>T, NM_001083606.2:c.2208G>C, NM_001083606.2:c.2208G>A, NM_001083606.1:c.2208G>T, NM_001083606.1:c.2208G>C, NM_001083606.1:c.2208G>A, NM_001083604.3:c.2208G>T, NM_001083604.3:c.2208G>C, NM_001083604.3:c.2208G>A, NM_001083604.2:c.2208G>T, NM_001083604.2:c.2208G>C, NM_001083604.2:c.2208G>A, NM_001083604.1:c.2208G>T, NM_001083604.1:c.2208G>C, NM_001083604.1:c.2208G>A, NM_001083605.3:c.2208G>T, NM_001083605.3:c.2208G>C, NM_001083605.3:c.2208G>A, NM_001083605.2:c.2208G>T, NM_001083605.2:c.2208G>C, NM_001083605.2:c.2208G>A, NM_001083605.1:c.2208G>T, NM_001083605.1:c.2208G>C, NM_001083605.1:c.2208G>A, NM_001354918.2:c.2505G>T, NM_001354918.2:c.2505G>C, NM_001354918.2:c.2505G>A, NM_001354918.1:c.2505G>T, NM_001354918.1:c.2505G>C, NM_001354918.1:c.2505G>A, NR_149061.2:n.3400G>T, NR_149061.2:n.3400G>C, NR_149061.2:n.3400G>A, NR_149061.1:n.2683G>T, NR_149061.1:n.2683G>C, NR_149061.1:n.2683G>A
          5.

          rs1487227339 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            9:95480430 (GRCh38)
            9:98242712 (GRCh37)
            Canonical SPDI:
            NC_000009.12:95480429:G:A,NC_000009.12:95480429:G:C
            Gene:
            PTCH1 (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
            Clinical significance:
            uncertain-significance
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000085/3 (ALFA)
            C=0.000007/1 (GnomAD)
            C=0.000008/2 (GnomAD_exomes)
            HGVS:
            NC_000009.12:g.95480430G>A, NC_000009.12:g.95480430G>C, NC_000009.11:g.98242712G>A, NC_000009.11:g.98242712G>C, NG_007664.1:g.41536C>T, NG_007664.1:g.41536C>G, NM_000264.5:c.905C>T, NM_000264.5:c.905C>G, NM_000264.4:c.905C>T, NM_000264.4:c.905C>G, NM_000264.3:c.905C>T, NM_000264.3:c.905C>G, NM_001083602.3:c.707C>T, NM_001083602.3:c.707C>G, NM_001083602.2:c.707C>T, NM_001083602.2:c.707C>G, NM_001083602.1:c.707C>T, NM_001083602.1:c.707C>G, NM_001083603.3:c.902C>T, NM_001083603.3:c.902C>G, NM_001083603.2:c.902C>T, NM_001083603.2:c.902C>G, NM_001083603.1:c.902C>T, NM_001083603.1:c.902C>G, NM_001083607.3:c.452C>T, NM_001083607.3:c.452C>G, NM_001083607.2:c.452C>T, NM_001083607.2:c.452C>G, NM_001083607.1:c.452C>T, NM_001083607.1:c.452C>G, NM_001083606.3:c.452C>T, NM_001083606.3:c.452C>G, NM_001083606.2:c.452C>T, NM_001083606.2:c.452C>G, NM_001083606.1:c.452C>T, NM_001083606.1:c.452C>G, NM_001083604.3:c.452C>T, NM_001083604.3:c.452C>G, NM_001083604.2:c.452C>T, NM_001083604.2:c.452C>G, NM_001083604.1:c.452C>T, NM_001083604.1:c.452C>G, NM_001083605.3:c.452C>T, NM_001083605.3:c.452C>G, NM_001083605.2:c.452C>T, NM_001083605.2:c.452C>G, NM_001083605.1:c.452C>T, NM_001083605.1:c.452C>G, NM_001354918.2:c.905C>T, NM_001354918.2:c.905C>G, NM_001354918.1:c.905C>T, NM_001354918.1:c.905C>G, NR_149061.2:n.1810C>T, NR_149061.2:n.1810C>G, NR_149061.1:n.1093C>T, NR_149061.1:n.1093C>G, NP_000255.2:p.Pro302Leu, NP_000255.2:p.Pro302Arg, NP_001077071.1:p.Pro236Leu, NP_001077071.1:p.Pro236Arg, NP_001077072.1:p.Pro301Leu, NP_001077072.1:p.Pro301Arg, NP_001077076.1:p.Pro151Leu, NP_001077076.1:p.Pro151Arg, NP_001077075.1:p.Pro151Leu, NP_001077075.1:p.Pro151Arg, NP_001077073.1:p.Pro151Leu, NP_001077073.1:p.Pro151Arg, NP_001077074.1:p.Pro151Leu, NP_001077074.1:p.Pro151Arg, NP_001341847.1:p.Pro302Leu, NP_001341847.1:p.Pro302Arg
            7.

            rs1485556285 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C,T [Show Flanks]
              Chromosome:
              9:95476047 (GRCh38)
              9:98238329 (GRCh37)
              Canonical SPDI:
              NC_000009.12:95476046:G:A,NC_000009.12:95476046:G:C,NC_000009.12:95476046:G:T
              Gene:
              PTCH1 (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
              Clinical significance:
              uncertain-significance
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              HGVS:
              NC_000009.12:g.95476047G>A, NC_000009.12:g.95476047G>C, NC_000009.12:g.95476047G>T, NC_000009.11:g.98238329G>A, NC_000009.11:g.98238329G>C, NC_000009.11:g.98238329G>T, NG_007664.1:g.45919C>T, NG_007664.1:g.45919C>G, NG_007664.1:g.45919C>A, NM_000264.5:c.1715C>T, NM_000264.5:c.1715C>G, NM_000264.5:c.1715C>A, NM_000264.4:c.1715C>T, NM_000264.4:c.1715C>G, NM_000264.4:c.1715C>A, NM_000264.3:c.1715C>T, NM_000264.3:c.1715C>G, NM_000264.3:c.1715C>A, NM_001083602.3:c.1517C>T, NM_001083602.3:c.1517C>G, NM_001083602.3:c.1517C>A, NM_001083602.2:c.1517C>T, NM_001083602.2:c.1517C>G, NM_001083602.2:c.1517C>A, NM_001083602.1:c.1517C>T, NM_001083602.1:c.1517C>G, NM_001083602.1:c.1517C>A, NM_001083603.3:c.1712C>T, NM_001083603.3:c.1712C>G, NM_001083603.3:c.1712C>A, NM_001083603.2:c.1712C>T, NM_001083603.2:c.1712C>G, NM_001083603.2:c.1712C>A, NM_001083603.1:c.1712C>T, NM_001083603.1:c.1712C>G, NM_001083603.1:c.1712C>A, NM_001083607.3:c.1262C>T, NM_001083607.3:c.1262C>G, NM_001083607.3:c.1262C>A, NM_001083607.2:c.1262C>T, NM_001083607.2:c.1262C>G, NM_001083607.2:c.1262C>A, NM_001083607.1:c.1262C>T, NM_001083607.1:c.1262C>G, NM_001083607.1:c.1262C>A, NM_001083606.3:c.1262C>T, NM_001083606.3:c.1262C>G, NM_001083606.3:c.1262C>A, NM_001083606.2:c.1262C>T, NM_001083606.2:c.1262C>G, NM_001083606.2:c.1262C>A, NM_001083606.1:c.1262C>T, NM_001083606.1:c.1262C>G, NM_001083606.1:c.1262C>A, NM_001083604.3:c.1262C>T, NM_001083604.3:c.1262C>G, NM_001083604.3:c.1262C>A, NM_001083604.2:c.1262C>T, NM_001083604.2:c.1262C>G, NM_001083604.2:c.1262C>A, NM_001083604.1:c.1262C>T, NM_001083604.1:c.1262C>G, NM_001083604.1:c.1262C>A, NM_001083605.3:c.1262C>T, NM_001083605.3:c.1262C>G, NM_001083605.3:c.1262C>A, NM_001083605.2:c.1262C>T, NM_001083605.2:c.1262C>G, NM_001083605.2:c.1262C>A, NM_001083605.1:c.1262C>T, NM_001083605.1:c.1262C>G, NM_001083605.1:c.1262C>A, NM_001354918.2:c.1559C>T, NM_001354918.2:c.1559C>G, NM_001354918.2:c.1559C>A, NM_001354918.1:c.1559C>T, NM_001354918.1:c.1559C>G, NM_001354918.1:c.1559C>A, NR_149061.2:n.2620C>T, NR_149061.2:n.2620C>G, NR_149061.2:n.2620C>A, NR_149061.1:n.1903C>T, NR_149061.1:n.1903C>G, NR_149061.1:n.1903C>A, NP_000255.2:p.Ala572Val, NP_000255.2:p.Ala572Gly, NP_000255.2:p.Ala572Glu, NP_001077071.1:p.Ala506Val, NP_001077071.1:p.Ala506Gly, NP_001077071.1:p.Ala506Glu, NP_001077072.1:p.Ala571Val, NP_001077072.1:p.Ala571Gly, NP_001077072.1:p.Ala571Glu, NP_001077076.1:p.Ala421Val, NP_001077076.1:p.Ala421Gly, NP_001077076.1:p.Ala421Glu, NP_001077075.1:p.Ala421Val, NP_001077075.1:p.Ala421Gly, NP_001077075.1:p.Ala421Glu, NP_001077073.1:p.Ala421Val, NP_001077073.1:p.Ala421Gly, NP_001077073.1:p.Ala421Glu, NP_001077074.1:p.Ala421Val, NP_001077074.1:p.Ala421Gly, NP_001077074.1:p.Ala421Glu, NP_001341847.1:p.Ala520Val, NP_001341847.1:p.Ala520Gly, NP_001341847.1:p.Ala520Glu
              8.

              rs1485371101 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,G,T [Show Flanks]
                Chromosome:
                9:95447238 (GRCh38)
                9:98209520 (GRCh37)
                Canonical SPDI:
                NC_000009.12:95447237:C:A,NC_000009.12:95447237:C:G,NC_000009.12:95447237:C:T
                Gene:
                PTCH1 (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000009.12:g.95447238C>A, NC_000009.12:g.95447238C>G, NC_000009.12:g.95447238C>T, NC_000009.11:g.98209520C>A, NC_000009.11:g.98209520C>G, NC_000009.11:g.98209520C>T, NG_007664.1:g.74728G>T, NG_007664.1:g.74728G>C, NG_007664.1:g.74728G>A, NM_000264.5:c.4018G>T, NM_000264.5:c.4018G>C, NM_000264.5:c.4018G>A, NM_000264.4:c.4018G>T, NM_000264.4:c.4018G>C, NM_000264.4:c.4018G>A, NM_000264.3:c.4018G>T, NM_000264.3:c.4018G>C, NM_000264.3:c.4018G>A, NM_001083602.3:c.3820G>T, NM_001083602.3:c.3820G>C, NM_001083602.3:c.3820G>A, NM_001083602.2:c.3820G>T, NM_001083602.2:c.3820G>C, NM_001083602.2:c.3820G>A, NM_001083602.1:c.3820G>T, NM_001083602.1:c.3820G>C, NM_001083602.1:c.3820G>A, NM_001083603.3:c.4015G>T, NM_001083603.3:c.4015G>C, NM_001083603.3:c.4015G>A, NM_001083603.2:c.4015G>T, NM_001083603.2:c.4015G>C, NM_001083603.2:c.4015G>A, NM_001083603.1:c.4015G>T, NM_001083603.1:c.4015G>C, NM_001083603.1:c.4015G>A, NM_001083607.3:c.3565G>T, NM_001083607.3:c.3565G>C, NM_001083607.3:c.3565G>A, NM_001083607.2:c.3565G>T, NM_001083607.2:c.3565G>C, NM_001083607.2:c.3565G>A, NM_001083607.1:c.3565G>T, NM_001083607.1:c.3565G>C, NM_001083607.1:c.3565G>A, NM_001083606.3:c.3565G>T, NM_001083606.3:c.3565G>C, NM_001083606.3:c.3565G>A, NM_001083606.2:c.3565G>T, NM_001083606.2:c.3565G>C, NM_001083606.2:c.3565G>A, NM_001083606.1:c.3565G>T, NM_001083606.1:c.3565G>C, NM_001083606.1:c.3565G>A, NM_001083604.3:c.3565G>T, NM_001083604.3:c.3565G>C, NM_001083604.3:c.3565G>A, NM_001083604.2:c.3565G>T, NM_001083604.2:c.3565G>C, NM_001083604.2:c.3565G>A, NM_001083604.1:c.3565G>T, NM_001083604.1:c.3565G>C, NM_001083604.1:c.3565G>A, NM_001083605.3:c.3565G>T, NM_001083605.3:c.3565G>C, NM_001083605.3:c.3565G>A, NM_001083605.2:c.3565G>T, NM_001083605.2:c.3565G>C, NM_001083605.2:c.3565G>A, NM_001083605.1:c.3565G>T, NM_001083605.1:c.3565G>C, NM_001083605.1:c.3565G>A, NM_001354918.2:c.3862G>T, NM_001354918.2:c.3862G>C, NM_001354918.2:c.3862G>A, NM_001354918.1:c.3862G>T, NM_001354918.1:c.3862G>C, NM_001354918.1:c.3862G>A, NR_149061.2:n.4757G>T, NR_149061.2:n.4757G>C, NR_149061.2:n.4757G>A, NR_149061.1:n.4040G>T, NR_149061.1:n.4040G>C, NR_149061.1:n.4040G>A, NP_000255.2:p.Gly1340Cys, NP_000255.2:p.Gly1340Arg, NP_000255.2:p.Gly1340Ser, NP_001077071.1:p.Gly1274Cys, NP_001077071.1:p.Gly1274Arg, NP_001077071.1:p.Gly1274Ser, NP_001077072.1:p.Gly1339Cys, NP_001077072.1:p.Gly1339Arg, NP_001077072.1:p.Gly1339Ser, NP_001077076.1:p.Gly1189Cys, NP_001077076.1:p.Gly1189Arg, NP_001077076.1:p.Gly1189Ser, NP_001077075.1:p.Gly1189Cys, NP_001077075.1:p.Gly1189Arg, NP_001077075.1:p.Gly1189Ser, NP_001077073.1:p.Gly1189Cys, NP_001077073.1:p.Gly1189Arg, NP_001077073.1:p.Gly1189Ser, NP_001077074.1:p.Gly1189Cys, NP_001077074.1:p.Gly1189Arg, NP_001077074.1:p.Gly1189Ser, NP_001341847.1:p.Gly1288Cys, NP_001341847.1:p.Gly1288Arg, NP_001341847.1:p.Gly1288Ser
                9.

                rs1484373312 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,G,T [Show Flanks]
                  Chromosome:
                  9:95447186 (GRCh38)
                  9:98209468 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:95447185:A:C,NC_000009.12:95447185:A:G,NC_000009.12:95447185:A:T
                  Gene:
                  PTCH1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000015/4 (TOPMED)
                  HGVS:
                  NC_000009.12:g.95447186A>C, NC_000009.12:g.95447186A>G, NC_000009.12:g.95447186A>T, NC_000009.11:g.98209468A>C, NC_000009.11:g.98209468A>G, NC_000009.11:g.98209468A>T, NG_007664.1:g.74780T>G, NG_007664.1:g.74780T>C, NG_007664.1:g.74780T>A, NM_000264.5:c.4070T>G, NM_000264.5:c.4070T>C, NM_000264.5:c.4070T>A, NM_000264.4:c.4070T>G, NM_000264.4:c.4070T>C, NM_000264.4:c.4070T>A, NM_000264.3:c.4070T>G, NM_000264.3:c.4070T>C, NM_000264.3:c.4070T>A, NM_001083602.3:c.3872T>G, NM_001083602.3:c.3872T>C, NM_001083602.3:c.3872T>A, NM_001083602.2:c.3872T>G, NM_001083602.2:c.3872T>C, NM_001083602.2:c.3872T>A, NM_001083602.1:c.3872T>G, NM_001083602.1:c.3872T>C, NM_001083602.1:c.3872T>A, NM_001083603.3:c.4067T>G, NM_001083603.3:c.4067T>C, NM_001083603.3:c.4067T>A, NM_001083603.2:c.4067T>G, NM_001083603.2:c.4067T>C, NM_001083603.2:c.4067T>A, NM_001083603.1:c.4067T>G, NM_001083603.1:c.4067T>C, NM_001083603.1:c.4067T>A, NM_001083607.3:c.3617T>G, NM_001083607.3:c.3617T>C, NM_001083607.3:c.3617T>A, NM_001083607.2:c.3617T>G, NM_001083607.2:c.3617T>C, NM_001083607.2:c.3617T>A, NM_001083607.1:c.3617T>G, NM_001083607.1:c.3617T>C, NM_001083607.1:c.3617T>A, NM_001083606.3:c.3617T>G, NM_001083606.3:c.3617T>C, NM_001083606.3:c.3617T>A, NM_001083606.2:c.3617T>G, NM_001083606.2:c.3617T>C, NM_001083606.2:c.3617T>A, NM_001083606.1:c.3617T>G, NM_001083606.1:c.3617T>C, NM_001083606.1:c.3617T>A, NM_001083604.3:c.3617T>G, NM_001083604.3:c.3617T>C, NM_001083604.3:c.3617T>A, NM_001083604.2:c.3617T>G, NM_001083604.2:c.3617T>C, NM_001083604.2:c.3617T>A, NM_001083604.1:c.3617T>G, NM_001083604.1:c.3617T>C, NM_001083604.1:c.3617T>A, NM_001083605.3:c.3617T>G, NM_001083605.3:c.3617T>C, NM_001083605.3:c.3617T>A, NM_001083605.2:c.3617T>G, NM_001083605.2:c.3617T>C, NM_001083605.2:c.3617T>A, NM_001083605.1:c.3617T>G, NM_001083605.1:c.3617T>C, NM_001083605.1:c.3617T>A, NM_001354918.2:c.3914T>G, NM_001354918.2:c.3914T>C, NM_001354918.2:c.3914T>A, NM_001354918.1:c.3914T>G, NM_001354918.1:c.3914T>C, NM_001354918.1:c.3914T>A, NR_149061.2:n.4809T>G, NR_149061.2:n.4809T>C, NR_149061.2:n.4809T>A, NR_149061.1:n.4092T>G, NR_149061.1:n.4092T>C, NR_149061.1:n.4092T>A, NP_000255.2:p.Met1357Arg, NP_000255.2:p.Met1357Thr, NP_000255.2:p.Met1357Lys, NP_001077071.1:p.Met1291Arg, NP_001077071.1:p.Met1291Thr, NP_001077071.1:p.Met1291Lys, NP_001077072.1:p.Met1356Arg, NP_001077072.1:p.Met1356Thr, NP_001077072.1:p.Met1356Lys, NP_001077076.1:p.Met1206Arg, NP_001077076.1:p.Met1206Thr, NP_001077076.1:p.Met1206Lys, NP_001077075.1:p.Met1206Arg, NP_001077075.1:p.Met1206Thr, NP_001077075.1:p.Met1206Lys, NP_001077073.1:p.Met1206Arg, NP_001077073.1:p.Met1206Thr, NP_001077073.1:p.Met1206Lys, NP_001077074.1:p.Met1206Arg, NP_001077074.1:p.Met1206Thr, NP_001077074.1:p.Met1206Lys, NP_001341847.1:p.Met1305Arg, NP_001341847.1:p.Met1305Thr, NP_001341847.1:p.Met1305Lys
                  11.

                  rs1482854138 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,C [Show Flanks]
                    Chromosome:
                    9:95458015 (GRCh38)
                    9:98220297 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:95458014:T:A,NC_000009.12:95458014:T:C
                    Gene:
                    PTCH1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000009.12:g.95458015T>A, NC_000009.12:g.95458015T>C, NC_000009.11:g.98220297T>A, NC_000009.11:g.98220297T>C, NG_007664.1:g.63951A>T, NG_007664.1:g.63951A>G, NM_000264.5:c.3166A>T, NM_000264.5:c.3166A>G, NM_000264.4:c.3166A>T, NM_000264.4:c.3166A>G, NM_000264.3:c.3166A>T, NM_000264.3:c.3166A>G, NM_001083602.3:c.2968A>T, NM_001083602.3:c.2968A>G, NM_001083602.2:c.2968A>T, NM_001083602.2:c.2968A>G, NM_001083602.1:c.2968A>T, NM_001083602.1:c.2968A>G, NM_001083603.3:c.3163A>T, NM_001083603.3:c.3163A>G, NM_001083603.2:c.3163A>T, NM_001083603.2:c.3163A>G, NM_001083603.1:c.3163A>T, NM_001083603.1:c.3163A>G, NM_001083607.3:c.2713A>T, NM_001083607.3:c.2713A>G, NM_001083607.2:c.2713A>T, NM_001083607.2:c.2713A>G, NM_001083607.1:c.2713A>T, NM_001083607.1:c.2713A>G, NM_001083606.3:c.2713A>T, NM_001083606.3:c.2713A>G, NM_001083606.2:c.2713A>T, NM_001083606.2:c.2713A>G, NM_001083606.1:c.2713A>T, NM_001083606.1:c.2713A>G, NM_001083604.3:c.2713A>T, NM_001083604.3:c.2713A>G, NM_001083604.2:c.2713A>T, NM_001083604.2:c.2713A>G, NM_001083604.1:c.2713A>T, NM_001083604.1:c.2713A>G, NM_001083605.3:c.2713A>T, NM_001083605.3:c.2713A>G, NM_001083605.2:c.2713A>T, NM_001083605.2:c.2713A>G, NM_001083605.1:c.2713A>T, NM_001083605.1:c.2713A>G, NM_001354918.2:c.3010A>T, NM_001354918.2:c.3010A>G, NM_001354918.1:c.3010A>T, NM_001354918.1:c.3010A>G, NR_149061.2:n.3905A>T, NR_149061.2:n.3905A>G, NR_149061.1:n.3188A>T, NR_149061.1:n.3188A>G, NP_000255.2:p.Ile1056Phe, NP_000255.2:p.Ile1056Val, NP_001077071.1:p.Ile990Phe, NP_001077071.1:p.Ile990Val, NP_001077072.1:p.Ile1055Phe, NP_001077072.1:p.Ile1055Val, NP_001077076.1:p.Ile905Phe, NP_001077076.1:p.Ile905Val, NP_001077075.1:p.Ile905Phe, NP_001077075.1:p.Ile905Val, NP_001077073.1:p.Ile905Phe, NP_001077073.1:p.Ile905Val, NP_001077074.1:p.Ile905Phe, NP_001077074.1:p.Ile905Val, NP_001341847.1:p.Ile1004Phe, NP_001341847.1:p.Ile1004Val
                    12.

                    rs1482005246 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A,C,G [Show Flanks]
                      Chromosome:
                      9:95447307 (GRCh38)
                      9:98209589 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:95447306:T:A,NC_000009.12:95447306:T:C,NC_000009.12:95447306:T:G
                      Gene:
                      PTCH1 (Varview)
                      Functional Consequence:
                      missense_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,stop_gained
                      Clinical significance:
                      uncertain-significance
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000111/1 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000009.12:g.95447307T>A, NC_000009.12:g.95447307T>C, NC_000009.12:g.95447307T>G, NC_000009.11:g.98209589T>A, NC_000009.11:g.98209589T>C, NC_000009.11:g.98209589T>G, NG_007664.1:g.74659A>T, NG_007664.1:g.74659A>G, NG_007664.1:g.74659A>C, NM_000264.5:c.3949A>T, NM_000264.5:c.3949A>G, NM_000264.5:c.3949A>C, NM_000264.4:c.3949A>T, NM_000264.4:c.3949A>G, NM_000264.4:c.3949A>C, NM_000264.3:c.3949A>T, NM_000264.3:c.3949A>G, NM_000264.3:c.3949A>C, NM_001083602.3:c.3751A>T, NM_001083602.3:c.3751A>G, NM_001083602.3:c.3751A>C, NM_001083602.2:c.3751A>T, NM_001083602.2:c.3751A>G, NM_001083602.2:c.3751A>C, NM_001083602.1:c.3751A>T, NM_001083602.1:c.3751A>G, NM_001083602.1:c.3751A>C, NM_001083603.3:c.3946A>T, NM_001083603.3:c.3946A>G, NM_001083603.3:c.3946A>C, NM_001083603.2:c.3946A>T, NM_001083603.2:c.3946A>G, NM_001083603.2:c.3946A>C, NM_001083603.1:c.3946A>T, NM_001083603.1:c.3946A>G, NM_001083603.1:c.3946A>C, NM_001083607.3:c.3496A>T, NM_001083607.3:c.3496A>G, NM_001083607.3:c.3496A>C, NM_001083607.2:c.3496A>T, NM_001083607.2:c.3496A>G, NM_001083607.2:c.3496A>C, NM_001083607.1:c.3496A>T, NM_001083607.1:c.3496A>G, NM_001083607.1:c.3496A>C, NM_001083606.3:c.3496A>T, NM_001083606.3:c.3496A>G, NM_001083606.3:c.3496A>C, NM_001083606.2:c.3496A>T, NM_001083606.2:c.3496A>G, NM_001083606.2:c.3496A>C, NM_001083606.1:c.3496A>T, NM_001083606.1:c.3496A>G, NM_001083606.1:c.3496A>C, NM_001083604.3:c.3496A>T, NM_001083604.3:c.3496A>G, NM_001083604.3:c.3496A>C, NM_001083604.2:c.3496A>T, NM_001083604.2:c.3496A>G, NM_001083604.2:c.3496A>C, NM_001083604.1:c.3496A>T, NM_001083604.1:c.3496A>G, NM_001083604.1:c.3496A>C, NM_001083605.3:c.3496A>T, NM_001083605.3:c.3496A>G, NM_001083605.3:c.3496A>C, NM_001083605.2:c.3496A>T, NM_001083605.2:c.3496A>G, NM_001083605.2:c.3496A>C, NM_001083605.1:c.3496A>T, NM_001083605.1:c.3496A>G, NM_001083605.1:c.3496A>C, NM_001354918.2:c.3793A>T, NM_001354918.2:c.3793A>G, NM_001354918.2:c.3793A>C, NM_001354918.1:c.3793A>T, NM_001354918.1:c.3793A>G, NM_001354918.1:c.3793A>C, NR_149061.2:n.4688A>T, NR_149061.2:n.4688A>G, NR_149061.2:n.4688A>C, NR_149061.1:n.3971A>T, NR_149061.1:n.3971A>G, NR_149061.1:n.3971A>C, NP_000255.2:p.Arg1317Ter, NP_000255.2:p.Arg1317Gly, NP_001077071.1:p.Arg1251Ter, NP_001077071.1:p.Arg1251Gly, NP_001077072.1:p.Arg1316Ter, NP_001077072.1:p.Arg1316Gly, NP_001077076.1:p.Arg1166Ter, NP_001077076.1:p.Arg1166Gly, NP_001077075.1:p.Arg1166Ter, NP_001077075.1:p.Arg1166Gly, NP_001077073.1:p.Arg1166Ter, NP_001077073.1:p.Arg1166Gly, NP_001077074.1:p.Arg1166Ter, NP_001077074.1:p.Arg1166Gly, NP_001341847.1:p.Arg1265Ter, NP_001341847.1:p.Arg1265Gly
                      13.

                      rs1481818673 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C,G,T [Show Flanks]
                        Chromosome:
                        9:95447015 (GRCh38)
                        9:98209297 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:95447014:A:C,NC_000009.12:95447014:A:G,NC_000009.12:95447014:A:T
                        Gene:
                        PTCH1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_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_000009.12:g.95447015A>C, NC_000009.12:g.95447015A>G, NC_000009.12:g.95447015A>T, NC_000009.11:g.98209297A>C, NC_000009.11:g.98209297A>G, NC_000009.11:g.98209297A>T, NG_007664.1:g.74951T>G, NG_007664.1:g.74951T>C, NG_007664.1:g.74951T>A, NM_000264.5:c.4241T>G, NM_000264.5:c.4241T>C, NM_000264.5:c.4241T>A, NM_000264.4:c.4241T>G, NM_000264.4:c.4241T>C, NM_000264.4:c.4241T>A, NM_000264.3:c.4241T>G, NM_000264.3:c.4241T>C, NM_000264.3:c.4241T>A, NM_001083602.3:c.4043T>G, NM_001083602.3:c.4043T>C, NM_001083602.3:c.4043T>A, NM_001083602.2:c.4043T>G, NM_001083602.2:c.4043T>C, NM_001083602.2:c.4043T>A, NM_001083602.1:c.4043T>G, NM_001083602.1:c.4043T>C, NM_001083602.1:c.4043T>A, NM_001083603.3:c.4238T>G, NM_001083603.3:c.4238T>C, NM_001083603.3:c.4238T>A, NM_001083603.2:c.4238T>G, NM_001083603.2:c.4238T>C, NM_001083603.2:c.4238T>A, NM_001083603.1:c.4238T>G, NM_001083603.1:c.4238T>C, NM_001083603.1:c.4238T>A, NM_001083607.3:c.3788T>G, NM_001083607.3:c.3788T>C, NM_001083607.3:c.3788T>A, NM_001083607.2:c.3788T>G, NM_001083607.2:c.3788T>C, NM_001083607.2:c.3788T>A, NM_001083607.1:c.3788T>G, NM_001083607.1:c.3788T>C, NM_001083607.1:c.3788T>A, NM_001083606.3:c.3788T>G, NM_001083606.3:c.3788T>C, NM_001083606.3:c.3788T>A, NM_001083606.2:c.3788T>G, NM_001083606.2:c.3788T>C, NM_001083606.2:c.3788T>A, NM_001083606.1:c.3788T>G, NM_001083606.1:c.3788T>C, NM_001083606.1:c.3788T>A, NM_001083604.3:c.3788T>G, NM_001083604.3:c.3788T>C, NM_001083604.3:c.3788T>A, NM_001083604.2:c.3788T>G, NM_001083604.2:c.3788T>C, NM_001083604.2:c.3788T>A, NM_001083604.1:c.3788T>G, NM_001083604.1:c.3788T>C, NM_001083604.1:c.3788T>A, NM_001083605.3:c.3788T>G, NM_001083605.3:c.3788T>C, NM_001083605.3:c.3788T>A, NM_001083605.2:c.3788T>G, NM_001083605.2:c.3788T>C, NM_001083605.2:c.3788T>A, NM_001083605.1:c.3788T>G, NM_001083605.1:c.3788T>C, NM_001083605.1:c.3788T>A, NM_001354918.2:c.4085T>G, NM_001354918.2:c.4085T>C, NM_001354918.2:c.4085T>A, NM_001354918.1:c.4085T>G, NM_001354918.1:c.4085T>C, NM_001354918.1:c.4085T>A, NR_149061.2:n.4980T>G, NR_149061.2:n.4980T>C, NR_149061.2:n.4980T>A, NR_149061.1:n.4263T>G, NR_149061.1:n.4263T>C, NR_149061.1:n.4263T>A, NP_000255.2:p.Val1414Gly, NP_000255.2:p.Val1414Ala, NP_000255.2:p.Val1414Glu, NP_001077071.1:p.Val1348Gly, NP_001077071.1:p.Val1348Ala, NP_001077071.1:p.Val1348Glu, NP_001077072.1:p.Val1413Gly, NP_001077072.1:p.Val1413Ala, NP_001077072.1:p.Val1413Glu, NP_001077076.1:p.Val1263Gly, NP_001077076.1:p.Val1263Ala, NP_001077076.1:p.Val1263Glu, NP_001077075.1:p.Val1263Gly, NP_001077075.1:p.Val1263Ala, NP_001077075.1:p.Val1263Glu, NP_001077073.1:p.Val1263Gly, NP_001077073.1:p.Val1263Ala, NP_001077073.1:p.Val1263Glu, NP_001077074.1:p.Val1263Gly, NP_001077074.1:p.Val1263Ala, NP_001077074.1:p.Val1263Glu, NP_001341847.1:p.Val1362Gly, NP_001341847.1:p.Val1362Ala, NP_001341847.1:p.Val1362Glu
                        16.

                        rs1479871006 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          9:95506435 (GRCh38)
                          9:98268717 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:95506434:C:G,NC_000009.12:95506434:C:T
                          Gene:
                          PTCH1 (Varview)
                          Functional Consequence:
                          missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                          Clinical significance:
                          uncertain-significance,likely-benign
                          Validated:
                          by frequency,by cluster
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000009.12:g.95506435C>G, NC_000009.12:g.95506435C>T, NC_000009.11:g.98268717C>G, NC_000009.11:g.98268717C>T, NG_007664.1:g.15531G>C, NG_007664.1:g.15531G>A, NM_000264.5:c.366G>C, NM_000264.5:c.366G>A, NM_000264.4:c.366G>C, NM_000264.4:c.366G>A, NM_000264.3:c.366G>C, NM_000264.3:c.366G>A, NM_001083602.3:c.168G>C, NM_001083602.3:c.168G>A, NM_001083602.2:c.168G>C, NM_001083602.2:c.168G>A, NM_001083602.1:c.168G>C, NM_001083602.1:c.168G>A, NM_001083603.3:c.363G>C, NM_001083603.3:c.363G>A, NM_001083603.2:c.363G>C, NM_001083603.2:c.363G>A, NM_001083603.1:c.363G>C, NM_001083603.1:c.363G>A, NM_001083607.3:c.-88G>C, NM_001083607.3:c.-88G>A, NM_001083607.2:c.-88G>C, NM_001083607.2:c.-88G>A, NM_001083607.1:c.-88G>C, NM_001083607.1:c.-88G>A, NM_001083606.3:c.-88G>C, NM_001083606.3:c.-88G>A, NM_001083606.2:c.-88G>C, NM_001083606.2:c.-88G>A, NM_001083606.1:c.-88G>C, NM_001083606.1:c.-88G>A, NM_001083604.3:c.-88G>C, NM_001083604.3:c.-88G>A, NM_001083604.2:c.-88G>C, NM_001083604.2:c.-88G>A, NM_001083604.1:c.-88G>C, NM_001083604.1:c.-88G>A, NM_001083605.3:c.-88G>C, NM_001083605.3:c.-88G>A, NM_001083605.2:c.-88G>C, NM_001083605.2:c.-88G>A, NM_001083605.1:c.-88G>C, NM_001083605.1:c.-88G>A, NM_001354918.2:c.366G>C, NM_001354918.2:c.366G>A, NM_001354918.1:c.366G>C, NM_001354918.1:c.366G>A, NR_149061.2:n.1271G>C, NR_149061.2:n.1271G>A, NR_149061.1:n.554G>C, NR_149061.1:n.554G>A, NM_001354919.2:c.168G>C, NM_001354919.2:c.168G>A, NM_001354919.1:c.168G>C, NM_001354919.1:c.168G>A, NP_000255.2:p.Glu122Asp, NP_001077071.1:p.Glu56Asp, NP_001077072.1:p.Glu121Asp, NP_001341847.1:p.Glu122Asp, NP_001341848.1:p.Glu56Asp
                          18.

                          rs1476325987 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A,C [Show Flanks]
                            Chromosome:
                            9:95479993 (GRCh38)
                            9:98242275 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:95479992:T:A,NC_000009.12:95479992:T:C
                            Gene:
                            PTCH1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                            Clinical significance:
                            uncertain-significance
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000009.12:g.95479993T>A, NC_000009.12:g.95479993T>C, NC_000009.11:g.98242275T>A, NC_000009.11:g.98242275T>C, NG_007664.1:g.41973A>T, NG_007664.1:g.41973A>G, NM_000264.5:c.1043A>T, NM_000264.5:c.1043A>G, NM_000264.4:c.1043A>T, NM_000264.4:c.1043A>G, NM_000264.3:c.1043A>T, NM_000264.3:c.1043A>G, NM_001083602.3:c.845A>T, NM_001083602.3:c.845A>G, NM_001083602.2:c.845A>T, NM_001083602.2:c.845A>G, NM_001083602.1:c.845A>T, NM_001083602.1:c.845A>G, NM_001083603.3:c.1040A>T, NM_001083603.3:c.1040A>G, NM_001083603.2:c.1040A>T, NM_001083603.2:c.1040A>G, NM_001083603.1:c.1040A>T, NM_001083603.1:c.1040A>G, NM_001083607.3:c.590A>T, NM_001083607.3:c.590A>G, NM_001083607.2:c.590A>T, NM_001083607.2:c.590A>G, NM_001083607.1:c.590A>T, NM_001083607.1:c.590A>G, NM_001083606.3:c.590A>T, NM_001083606.3:c.590A>G, NM_001083606.2:c.590A>T, NM_001083606.2:c.590A>G, NM_001083606.1:c.590A>T, NM_001083606.1:c.590A>G, NM_001083604.3:c.590A>T, NM_001083604.3:c.590A>G, NM_001083604.2:c.590A>T, NM_001083604.2:c.590A>G, NM_001083604.1:c.590A>T, NM_001083604.1:c.590A>G, NM_001083605.3:c.590A>T, NM_001083605.3:c.590A>G, NM_001083605.2:c.590A>T, NM_001083605.2:c.590A>G, NM_001083605.1:c.590A>T, NM_001083605.1:c.590A>G, NM_001354918.2:c.1043A>T, NM_001354918.2:c.1043A>G, NM_001354918.1:c.1043A>T, NM_001354918.1:c.1043A>G, NR_149061.2:n.1948A>T, NR_149061.2:n.1948A>G, NR_149061.1:n.1231A>T, NR_149061.1:n.1231A>G, NP_000255.2:p.Lys348Met, NP_000255.2:p.Lys348Arg, NP_001077071.1:p.Lys282Met, NP_001077071.1:p.Lys282Arg, NP_001077072.1:p.Lys347Met, NP_001077072.1:p.Lys347Arg, NP_001077076.1:p.Lys197Met, NP_001077076.1:p.Lys197Arg, NP_001077075.1:p.Lys197Met, NP_001077075.1:p.Lys197Arg, NP_001077073.1:p.Lys197Met, NP_001077073.1:p.Lys197Arg, NP_001077074.1:p.Lys197Met, NP_001077074.1:p.Lys197Arg, NP_001341847.1:p.Lys348Met, NP_001341847.1:p.Lys348Arg
                            19.

                            rs1472804824 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G,T [Show Flanks]
                              Chromosome:
                              9:95469898 (GRCh38)
                              9:98232180 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:95469897:C:A,NC_000009.12:95469897:C:G,NC_000009.12:95469897:C:T
                              Gene:
                              PTCH1 (Varview), LOC100507346 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                              Clinical significance:
                              uncertain-significance
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000009.12:g.95469898C>A, NC_000009.12:g.95469898C>G, NC_000009.12:g.95469898C>T, NC_000009.11:g.98232180C>A, NC_000009.11:g.98232180C>G, NC_000009.11:g.98232180C>T, NG_007664.1:g.52068G>T, NG_007664.1:g.52068G>C, NG_007664.1:g.52068G>A, NM_000264.5:c.1762G>T, NM_000264.5:c.1762G>C, NM_000264.5:c.1762G>A, NM_000264.4:c.1762G>T, NM_000264.4:c.1762G>C, NM_000264.4:c.1762G>A, NM_000264.3:c.1762G>T, NM_000264.3:c.1762G>C, NM_000264.3:c.1762G>A, NM_001083602.3:c.1564G>T, NM_001083602.3:c.1564G>C, NM_001083602.3:c.1564G>A, NM_001083602.2:c.1564G>T, NM_001083602.2:c.1564G>C, NM_001083602.2:c.1564G>A, NM_001083602.1:c.1564G>T, NM_001083602.1:c.1564G>C, NM_001083602.1:c.1564G>A, NM_001083603.3:c.1759G>T, NM_001083603.3:c.1759G>C, NM_001083603.3:c.1759G>A, NM_001083603.2:c.1759G>T, NM_001083603.2:c.1759G>C, NM_001083603.2:c.1759G>A, NM_001083603.1:c.1759G>T, NM_001083603.1:c.1759G>C, NM_001083603.1:c.1759G>A, NM_001083607.3:c.1309G>T, NM_001083607.3:c.1309G>C, NM_001083607.3:c.1309G>A, NM_001083607.2:c.1309G>T, NM_001083607.2:c.1309G>C, NM_001083607.2:c.1309G>A, NM_001083607.1:c.1309G>T, NM_001083607.1:c.1309G>C, NM_001083607.1:c.1309G>A, NM_001083606.3:c.1309G>T, NM_001083606.3:c.1309G>C, NM_001083606.3:c.1309G>A, NM_001083606.2:c.1309G>T, NM_001083606.2:c.1309G>C, NM_001083606.2:c.1309G>A, NM_001083606.1:c.1309G>T, NM_001083606.1:c.1309G>C, NM_001083606.1:c.1309G>A, NM_001083604.3:c.1309G>T, NM_001083604.3:c.1309G>C, NM_001083604.3:c.1309G>A, NM_001083604.2:c.1309G>T, NM_001083604.2:c.1309G>C, NM_001083604.2:c.1309G>A, NM_001083604.1:c.1309G>T, NM_001083604.1:c.1309G>C, NM_001083604.1:c.1309G>A, NM_001083605.3:c.1309G>T, NM_001083605.3:c.1309G>C, NM_001083605.3:c.1309G>A, NM_001083605.2:c.1309G>T, NM_001083605.2:c.1309G>C, NM_001083605.2:c.1309G>A, NM_001083605.1:c.1309G>T, NM_001083605.1:c.1309G>C, NM_001083605.1:c.1309G>A, NM_001354918.2:c.1606G>T, NM_001354918.2:c.1606G>C, NM_001354918.2:c.1606G>A, NM_001354918.1:c.1606G>T, NM_001354918.1:c.1606G>C, NM_001354918.1:c.1606G>A, NR_149061.2:n.2667G>T, NR_149061.2:n.2667G>C, NR_149061.2:n.2667G>A, NR_149061.1:n.1950G>T, NR_149061.1:n.1950G>C, NR_149061.1:n.1950G>A, NR_038982.1:n.1836C>A, NR_038982.1:n.1836C>G, NR_038982.1:n.1836C>T, NP_000255.2:p.Val588Phe, NP_000255.2:p.Val588Leu, NP_000255.2:p.Val588Ile, NP_001077071.1:p.Val522Phe, NP_001077071.1:p.Val522Leu, NP_001077071.1:p.Val522Ile, NP_001077072.1:p.Val587Phe, NP_001077072.1:p.Val587Leu, NP_001077072.1:p.Val587Ile, NP_001077076.1:p.Val437Phe, NP_001077076.1:p.Val437Leu, NP_001077076.1:p.Val437Ile, NP_001077075.1:p.Val437Phe, NP_001077075.1:p.Val437Leu, NP_001077075.1:p.Val437Ile, NP_001077073.1:p.Val437Phe, NP_001077073.1:p.Val437Leu, NP_001077073.1:p.Val437Ile, NP_001077074.1:p.Val437Phe, NP_001077074.1:p.Val437Leu, NP_001077074.1:p.Val437Ile, NP_001341847.1:p.Val536Phe, NP_001341847.1:p.Val536Leu, NP_001341847.1:p.Val536Ile
                              20.

                              rs1472803986 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A,C [Show Flanks]
                                Chromosome:
                                9:95469042 (GRCh38)
                                9:98231324 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:95469041:T:A,NC_000009.12:95469041:T:C
                                Gene:
                                PTCH1 (Varview), LOC100507346 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000009.12:g.95469042T>A, NC_000009.12:g.95469042T>C, NC_000009.11:g.98231324T>A, NC_000009.11:g.98231324T>C, NG_007664.1:g.52924A>T, NG_007664.1:g.52924A>G, NM_000264.5:c.1959A>T, NM_000264.5:c.1959A>G, NM_000264.4:c.1959A>T, NM_000264.4:c.1959A>G, NM_000264.3:c.1959A>T, NM_000264.3:c.1959A>G, NM_001083602.3:c.1761A>T, NM_001083602.3:c.1761A>G, NM_001083602.2:c.1761A>T, NM_001083602.2:c.1761A>G, NM_001083602.1:c.1761A>T, NM_001083602.1:c.1761A>G, NM_001083603.3:c.1956A>T, NM_001083603.3:c.1956A>G, NM_001083603.2:c.1956A>T, NM_001083603.2:c.1956A>G, NM_001083603.1:c.1956A>T, NM_001083603.1:c.1956A>G, NM_001083607.3:c.1506A>T, NM_001083607.3:c.1506A>G, NM_001083607.2:c.1506A>T, NM_001083607.2:c.1506A>G, NM_001083607.1:c.1506A>T, NM_001083607.1:c.1506A>G, NM_001083606.3:c.1506A>T, NM_001083606.3:c.1506A>G, NM_001083606.2:c.1506A>T, NM_001083606.2:c.1506A>G, NM_001083606.1:c.1506A>T, NM_001083606.1:c.1506A>G, NM_001083604.3:c.1506A>T, NM_001083604.3:c.1506A>G, NM_001083604.2:c.1506A>T, NM_001083604.2:c.1506A>G, NM_001083604.1:c.1506A>T, NM_001083604.1:c.1506A>G, NM_001083605.3:c.1506A>T, NM_001083605.3:c.1506A>G, NM_001083605.2:c.1506A>T, NM_001083605.2:c.1506A>G, NM_001083605.1:c.1506A>T, NM_001083605.1:c.1506A>G, NM_001354918.2:c.1803A>T, NM_001354918.2:c.1803A>G, NM_001354918.1:c.1803A>T, NM_001354918.1:c.1803A>G, NR_149061.2:n.2864A>T, NR_149061.2:n.2864A>G, NR_149061.1:n.2147A>T, NR_149061.1:n.2147A>G, NR_038982.1:n.980T>A, NR_038982.1:n.980T>C, NP_000255.2:p.Glu653Asp, NP_001077071.1:p.Glu587Asp, NP_001077072.1:p.Glu652Asp, NP_001077076.1:p.Glu502Asp, NP_001077075.1:p.Glu502Asp, NP_001077073.1:p.Glu502Asp, NP_001077074.1:p.Glu502Asp, NP_001341847.1:p.Glu601Asp

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