U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 259

1.

rs1490391015 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    15:63057005 (GRCh38)
    15:63349204 (GRCh37)
    Canonical SPDI:
    NC_000015.10:63057004:T:G
    Gene:
    TPM1 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000015.10:g.63057005T>G, NC_000015.9:g.63349204T>G, NG_007557.1:g.19367T>G, NM_000366.6:c.261T>G, NM_000366.5:c.261T>G, NM_001365781.2:c.153T>G, NM_001365781.1:c.153T>G, NM_001330351.2:c.153T>G, NM_001330351.1:c.153T>G, NM_001018008.2:c.153T>G, NM_001018008.1:c.153T>G, NM_001018020.2:c.261T>G, NM_001018020.1:c.261T>G, NM_001018007.2:c.261T>G, NM_001018007.1:c.261T>G, NM_001018006.2:c.261T>G, NM_001018006.1:c.261T>G, NM_001018004.2:c.261T>G, NM_001018004.1:c.261T>G, NM_001330344.2:c.153T>G, NM_001330344.1:c.153T>G, NM_001301289.2:c.153T>G, NM_001301289.1:c.153T>G, NM_001301244.2:c.261T>G, NM_001301244.1:c.261T>G, NM_001018005.2:c.261T>G, NM_001018005.1:c.261T>G, NM_001330346.2:c.153T>G, NM_001330346.1:c.153T>G, NR_176341.1:n.344T>G, NR_176349.1:n.180T>G, NR_176353.1:n.240T>G, NR_176338.1:n.344T>G, NM_001407334.1:c.261T>G, NM_001407333.1:c.261T>G, NM_001407338.1:c.261T>G, NM_001407337.1:c.261T>G, NM_001407336.1:c.261T>G, NM_001365776.1:c.261T>G, NR_176352.1:n.240T>G, NM_001365782.1:c.153T>G, NR_176348.1:n.180T>G, NM_001407325.1:c.261T>G, NR_176351.1:n.240T>G, NM_001407341.1:c.153T>G, NM_001407340.1:c.153T>G, NR_176346.1:n.344T>G, NR_176344.1:n.470T>G, NR_176343.1:n.344T>G, NR_176342.1:n.344T>G, NM_001365778.1:c.387T>G, NR_176340.1:n.439T>G, NM_001407326.1:c.261T>G, NR_176337.1:n.344T>G, NR_176350.1:n.240T>G, NM_001407323.1:c.387T>G, NM_001407322.1:c.387T>G, NR_176345.1:n.344T>G, NM_001407335.1:c.261T>G, NM_001365779.1:c.261T>G, NM_001407331.1:c.261T>G, NM_001407329.1:c.261T>G, NR_176347.1:n.344T>G, NR_176339.1:n.439T>G, NM_001407324.1:c.387T>G, NM_001407328.1:c.261T>G, NM_001407327.1:c.261T>G, NM_001365777.1:c.261T>G, NM_001407344.1:c.153T>G, NM_001407342.1:c.153T>G, NM_001365780.1:c.153T>G, NM_001407332.1:c.261T>G, NM_001407330.1:c.261T>G, XM_006720667.5:c.261T>G, XM_005254639.5:c.261T>G, XM_005254650.4:c.153T>G, XM_017022539.3:c.261T>G, XM_005254646.3:c.153T>G, XM_017022538.3:c.261T>G, XM_047433004.1:c.261T>G, XM_047433003.1:c.261T>G, XM_047433001.1:c.261T>G, XM_047433000.1:c.261T>G, XM_047433005.1:c.153T>G, XM_047433002.1:c.261T>G

    2.

    rs1477561695 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      15:63057016 (GRCh38)
      15:63349215 (GRCh37)
      Canonical SPDI:
      NC_000015.10:63057015:G:A
      Gene:
      TPM1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Clinical significance:
      uncertain-significance
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000008/2 (GnomAD_exomes)
      HGVS:
      NC_000015.10:g.63057016G>A, NC_000015.9:g.63349215G>A, NG_007557.1:g.19378G>A, NM_000366.6:c.272G>A, NM_000366.5:c.272G>A, NM_001365781.2:c.164G>A, NM_001365781.1:c.164G>A, NM_001330351.2:c.164G>A, NM_001330351.1:c.164G>A, NM_001018008.2:c.164G>A, NM_001018008.1:c.164G>A, NM_001018020.2:c.272G>A, NM_001018020.1:c.272G>A, NM_001018007.2:c.272G>A, NM_001018007.1:c.272G>A, NM_001018006.2:c.272G>A, NM_001018006.1:c.272G>A, NM_001018004.2:c.272G>A, NM_001018004.1:c.272G>A, NM_001330344.2:c.164G>A, NM_001330344.1:c.164G>A, NM_001301289.2:c.164G>A, NM_001301289.1:c.164G>A, NM_001301244.2:c.272G>A, NM_001301244.1:c.272G>A, NM_001018005.2:c.272G>A, NM_001018005.1:c.272G>A, NM_001330346.2:c.164G>A, NM_001330346.1:c.164G>A, NR_176341.1:n.355G>A, NR_176349.1:n.191G>A, NR_176353.1:n.251G>A, NR_176338.1:n.355G>A, NM_001407334.1:c.272G>A, NM_001407333.1:c.272G>A, NM_001407338.1:c.272G>A, NM_001407337.1:c.272G>A, NM_001407336.1:c.272G>A, NM_001365776.1:c.272G>A, NR_176352.1:n.251G>A, NM_001365782.1:c.164G>A, NR_176348.1:n.191G>A, NM_001407325.1:c.272G>A, NR_176351.1:n.251G>A, NM_001407341.1:c.164G>A, NM_001407340.1:c.164G>A, NR_176346.1:n.355G>A, NR_176344.1:n.481G>A, NR_176343.1:n.355G>A, NR_176342.1:n.355G>A, NM_001365778.1:c.398G>A, NR_176340.1:n.450G>A, NM_001407326.1:c.272G>A, NR_176337.1:n.355G>A, NR_176350.1:n.251G>A, NM_001407323.1:c.398G>A, NM_001407322.1:c.398G>A, NR_176345.1:n.355G>A, NM_001407335.1:c.272G>A, NM_001365779.1:c.272G>A, NM_001407331.1:c.272G>A, NM_001407329.1:c.272G>A, NR_176347.1:n.355G>A, NR_176339.1:n.450G>A, NM_001407324.1:c.398G>A, NM_001407328.1:c.272G>A, NM_001407327.1:c.272G>A, NM_001365777.1:c.272G>A, NM_001407344.1:c.164G>A, NM_001407342.1:c.164G>A, NM_001365780.1:c.164G>A, NM_001407332.1:c.272G>A, NM_001407330.1:c.272G>A, XM_006720667.5:c.272G>A, XM_005254639.5:c.272G>A, XM_005254650.4:c.164G>A, XM_017022539.3:c.272G>A, XM_005254646.3:c.164G>A, XM_017022538.3:c.272G>A, XM_047433004.1:c.272G>A, XM_047433003.1:c.272G>A, XM_047433001.1:c.272G>A, XM_047433000.1:c.272G>A, XM_047433005.1:c.164G>A, XM_047433002.1:c.272G>A, NP_000357.3:p.Arg91His, NP_001352710.1:p.Arg55His, NP_001317280.1:p.Arg55His, NP_001018008.1:p.Arg55His, NP_001018020.1:p.Arg91His, NP_001018007.1:p.Arg91His, NP_001018006.1:p.Arg91His, NP_001018004.1:p.Arg91His, NP_001317273.1:p.Arg55His, NP_001288218.1:p.Arg55His, NP_001288173.1:p.Arg91His, NP_001018005.1:p.Arg91His, NP_001317275.1:p.Arg55His, NP_001352705.1:p.Arg91His, NP_001352711.1:p.Arg55His, NP_001352707.1:p.Arg133His, NP_001352708.1:p.Arg91His, NP_001352706.1:p.Arg91His, NP_001352709.1:p.Arg55His, XP_006720730.3:p.Arg91His, XP_005254696.3:p.Arg91His, XP_005254707.1:p.Arg55His, XP_016878028.2:p.Arg91His, XP_005254703.1:p.Arg55His, XP_016878027.2:p.Arg91His, XP_047288960.1:p.Arg91His, XP_047288959.1:p.Arg91His, XP_047288957.1:p.Arg91His, XP_047288956.1:p.Arg91His, XP_047288961.1:p.Arg55His, XP_047288958.1:p.Arg91His

      3.

      rs1475839079 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        15:63059620 (GRCh38)
        15:63351819 (GRCh37)
        Canonical SPDI:
        NC_000015.10:63059619:G:A
        Gene:
        TPM1 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000015.10:g.63059620G>A, NC_000015.9:g.63351819G>A, NG_007557.1:g.21982G>A, NM_000366.6:c.432G>A, NM_000366.5:c.432G>A, NM_001365781.2:c.324G>A, NM_001365781.1:c.324G>A, NM_001330351.2:c.324G>A, NM_001330351.1:c.324G>A, NM_001018008.2:c.324G>A, NM_001018008.1:c.324G>A, NM_001018020.2:c.432G>A, NM_001018020.1:c.432G>A, NM_001018007.2:c.432G>A, NM_001018007.1:c.432G>A, NM_001018006.2:c.432G>A, NM_001018006.1:c.432G>A, NM_001018004.2:c.432G>A, NM_001018004.1:c.432G>A, NM_001330344.2:c.324G>A, NM_001330344.1:c.324G>A, NM_001301289.2:c.324G>A, NM_001301289.1:c.324G>A, NM_001301244.2:c.432G>A, NM_001301244.1:c.432G>A, NM_001018005.2:c.432G>A, NM_001018005.1:c.432G>A, NM_001330346.2:c.324G>A, NM_001330346.1:c.324G>A, NR_176341.1:n.515G>A, NR_176349.1:n.351G>A, NR_176353.1:n.411G>A, NR_176338.1:n.515G>A, NM_001407334.1:c.432G>A, NM_001407333.1:c.432G>A, NM_001407338.1:c.432G>A, NM_001407337.1:c.432G>A, NM_001407336.1:c.432G>A, NM_001365776.1:c.432G>A, NR_176352.1:n.411G>A, NM_001365782.1:c.324G>A, NR_176348.1:n.351G>A, NM_001407325.1:c.432G>A, NR_176351.1:n.411G>A, NM_001407341.1:c.324G>A, NM_001407340.1:c.324G>A, NR_176346.1:n.515G>A, NR_176344.1:n.641G>A, NR_176343.1:n.515G>A, NR_176342.1:n.515G>A, NM_001365778.1:c.558G>A, NR_176340.1:n.610G>A, NM_001407326.1:c.432G>A, NR_176337.1:n.515G>A, NR_176350.1:n.411G>A, NM_001407323.1:c.558G>A, NM_001407322.1:c.558G>A, NR_176345.1:n.515G>A, NM_001407335.1:c.432G>A, NM_001365779.1:c.432G>A, NM_001407331.1:c.432G>A, NM_001407329.1:c.432G>A, NR_176347.1:n.515G>A, NR_176339.1:n.610G>A, NM_001407324.1:c.558G>A, NM_001407328.1:c.432G>A, NM_001407327.1:c.432G>A, NM_001365777.1:c.432G>A, NM_001407344.1:c.324G>A, NM_001407342.1:c.324G>A, NM_001365780.1:c.324G>A, NM_001407332.1:c.432G>A, NM_001407330.1:c.432G>A, XM_006720667.5:c.432G>A, XM_005254639.5:c.432G>A, XM_005254650.4:c.324G>A, XM_017022539.3:c.432G>A, XM_005254646.3:c.324G>A, XM_017022538.3:c.432G>A, XM_047433004.1:c.432G>A, XM_047433003.1:c.432G>A, XM_047433001.1:c.432G>A, XM_047433000.1:c.432G>A, XM_047433005.1:c.324G>A, XM_047433002.1:c.432G>A

        4.

        rs1465520299 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          15:63062618 (GRCh38)
          15:63354817 (GRCh37)
          Canonical SPDI:
          NC_000015.10:63062617:T:C
          Gene:
          TPM1 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000015.10:g.63062618T>C, NC_000015.9:g.63354817T>C, NG_007557.1:g.24980T>C, NM_000366.6:c.745T>C, NM_000366.5:c.745T>C, NM_001365781.2:c.637T>C, NM_001365781.1:c.637T>C, NM_001330351.2:c.637T>C, NM_001330351.1:c.637T>C, NM_001018008.2:c.637T>C, NM_001018008.1:c.637T>C, NM_001018020.2:c.745T>C, NM_001018020.1:c.745T>C, NM_001018007.2:c.745T>C, NM_001018007.1:c.745T>C, NM_001018006.2:c.745T>C, NM_001018006.1:c.745T>C, NM_001018004.2:c.745T>C, NM_001018004.1:c.745T>C, NM_001330344.2:c.637T>C, NM_001330344.1:c.637T>C, NM_001301289.2:c.637T>C, NM_001301289.1:c.637T>C, NM_001301244.2:c.745T>C, NM_001301244.1:c.745T>C, NM_001018005.2:c.745T>C, NM_001018005.1:c.745T>C, NM_001330346.2:c.637T>C, NM_001330346.1:c.637T>C, NR_176341.1:n.904T>C, NR_176349.1:n.740T>C, NR_176353.1:n.724T>C, NR_176338.1:n.904T>C, NM_001407334.1:c.745T>C, NM_001407333.1:c.745T>C, NM_001407338.1:c.745T>C, NM_001407337.1:c.745T>C, NM_001407336.1:c.745T>C, NM_001365776.1:c.745T>C, NR_176352.1:n.800T>C, NM_001365782.1:c.637T>C, NR_176348.1:n.740T>C, NM_001407325.1:c.745T>C, NR_176351.1:n.800T>C, NM_001407341.1:c.637T>C, NM_001407340.1:c.637T>C, NR_176346.1:n.904T>C, NR_176344.1:n.1030T>C, NR_176343.1:n.904T>C, NR_176342.1:n.904T>C, NM_001365778.1:c.871T>C, NR_176340.1:n.923T>C, NM_001407326.1:c.745T>C, NR_176337.1:n.904T>C, NR_176350.1:n.800T>C, NM_001407323.1:c.871T>C, NM_001407322.1:c.871T>C, NR_176345.1:n.904T>C, NM_001407335.1:c.745T>C, NM_001365779.1:c.745T>C, NM_001407331.1:c.745T>C, NM_001407329.1:c.745T>C, NR_176347.1:n.904T>C, NR_176339.1:n.999T>C, NM_001407324.1:c.871T>C, NM_001407328.1:c.745T>C, NM_001407327.1:c.745T>C, NM_001365777.1:c.745T>C, NM_001407344.1:c.637T>C, NM_001407342.1:c.637T>C, NM_001365780.1:c.637T>C, NM_001407332.1:c.745T>C, NM_001407330.1:c.745T>C, XM_006720667.5:c.745T>C, XM_005254639.5:c.745T>C, XM_005254650.4:c.637T>C, XM_017022539.3:c.745T>C, XM_005254646.3:c.637T>C, XM_017022538.3:c.745T>C, XM_047433004.1:c.745T>C, XM_047433003.1:c.745T>C, XM_047433001.1:c.745T>C, XM_047433000.1:c.745T>C, XM_047433005.1:c.637T>C, XM_047433002.1:c.745T>C

          5.

          rs1460142862 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            15:63059626 (GRCh38)
            15:63351825 (GRCh37)
            Canonical SPDI:
            NC_000015.10:63059625:C:G,NC_000015.10:63059625:C:T
            Gene:
            TPM1 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,missense_variant
            Clinical significance:
            uncertain-significance,likely-benign
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            HGVS:
            NC_000015.10:g.63059626C>G, NC_000015.10:g.63059626C>T, NC_000015.9:g.63351825C>G, NC_000015.9:g.63351825C>T, NG_007557.1:g.21988C>G, NG_007557.1:g.21988C>T, NM_000366.6:c.438C>G, NM_000366.6:c.438C>T, NM_000366.5:c.438C>G, NM_000366.5:c.438C>T, NM_001365781.2:c.330C>G, NM_001365781.2:c.330C>T, NM_001365781.1:c.330C>G, NM_001365781.1:c.330C>T, NM_001330351.2:c.330C>G, NM_001330351.2:c.330C>T, NM_001330351.1:c.330C>G, NM_001330351.1:c.330C>T, NM_001018008.2:c.330C>G, NM_001018008.2:c.330C>T, NM_001018008.1:c.330C>G, NM_001018008.1:c.330C>T, NM_001018020.2:c.438C>G, NM_001018020.2:c.438C>T, NM_001018020.1:c.438C>G, NM_001018020.1:c.438C>T, NM_001018007.2:c.438C>G, NM_001018007.2:c.438C>T, NM_001018007.1:c.438C>G, NM_001018007.1:c.438C>T, NM_001018006.2:c.438C>G, NM_001018006.2:c.438C>T, NM_001018006.1:c.438C>G, NM_001018006.1:c.438C>T, NM_001018004.2:c.438C>G, NM_001018004.2:c.438C>T, NM_001018004.1:c.438C>G, NM_001018004.1:c.438C>T, NM_001330344.2:c.330C>G, NM_001330344.2:c.330C>T, NM_001330344.1:c.330C>G, NM_001330344.1:c.330C>T, NM_001301289.2:c.330C>G, NM_001301289.2:c.330C>T, NM_001301289.1:c.330C>G, NM_001301289.1:c.330C>T, NM_001301244.2:c.438C>G, NM_001301244.2:c.438C>T, NM_001301244.1:c.438C>G, NM_001301244.1:c.438C>T, NM_001018005.2:c.438C>G, NM_001018005.2:c.438C>T, NM_001018005.1:c.438C>G, NM_001018005.1:c.438C>T, NM_001330346.2:c.330C>G, NM_001330346.2:c.330C>T, NM_001330346.1:c.330C>G, NM_001330346.1:c.330C>T, NR_176341.1:n.521C>G, NR_176341.1:n.521C>T, NR_176349.1:n.357C>G, NR_176349.1:n.357C>T, NR_176353.1:n.417C>G, NR_176353.1:n.417C>T, NR_176338.1:n.521C>G, NR_176338.1:n.521C>T, NM_001407334.1:c.438C>G, NM_001407334.1:c.438C>T, NM_001407333.1:c.438C>G, NM_001407333.1:c.438C>T, NM_001407338.1:c.438C>G, NM_001407338.1:c.438C>T, NM_001407337.1:c.438C>G, NM_001407337.1:c.438C>T, NM_001407336.1:c.438C>G, NM_001407336.1:c.438C>T, NM_001365776.1:c.438C>G, NM_001365776.1:c.438C>T, NR_176352.1:n.417C>G, NR_176352.1:n.417C>T, NM_001365782.1:c.330C>G, NM_001365782.1:c.330C>T, NR_176348.1:n.357C>G, NR_176348.1:n.357C>T, NM_001407325.1:c.438C>G, NM_001407325.1:c.438C>T, NR_176351.1:n.417C>G, NR_176351.1:n.417C>T, NM_001407341.1:c.330C>G, NM_001407341.1:c.330C>T, NM_001407340.1:c.330C>G, NM_001407340.1:c.330C>T, NR_176346.1:n.521C>G, NR_176346.1:n.521C>T, NR_176344.1:n.647C>G, NR_176344.1:n.647C>T, NR_176343.1:n.521C>G, NR_176343.1:n.521C>T, NR_176342.1:n.521C>G, NR_176342.1:n.521C>T, NM_001365778.1:c.564C>G, NM_001365778.1:c.564C>T, NR_176340.1:n.616C>G, NR_176340.1:n.616C>T, NM_001407326.1:c.438C>G, NM_001407326.1:c.438C>T, NR_176337.1:n.521C>G, NR_176337.1:n.521C>T, NR_176350.1:n.417C>G, NR_176350.1:n.417C>T, NM_001407323.1:c.564C>G, NM_001407323.1:c.564C>T, NM_001407322.1:c.564C>G, NM_001407322.1:c.564C>T, NR_176345.1:n.521C>G, NR_176345.1:n.521C>T, NM_001407335.1:c.438C>G, NM_001407335.1:c.438C>T, NM_001365779.1:c.438C>G, NM_001365779.1:c.438C>T, NM_001407331.1:c.438C>G, NM_001407331.1:c.438C>T, NM_001407329.1:c.438C>G, NM_001407329.1:c.438C>T, NR_176347.1:n.521C>G, NR_176347.1:n.521C>T, NR_176339.1:n.616C>G, NR_176339.1:n.616C>T, NM_001407324.1:c.564C>G, NM_001407324.1:c.564C>T, NM_001407328.1:c.438C>G, NM_001407328.1:c.438C>T, NM_001407327.1:c.438C>G, NM_001407327.1:c.438C>T, NM_001365777.1:c.438C>G, NM_001365777.1:c.438C>T, NM_001407344.1:c.330C>G, NM_001407344.1:c.330C>T, NM_001407342.1:c.330C>G, NM_001407342.1:c.330C>T, NM_001365780.1:c.330C>G, NM_001365780.1:c.330C>T, NM_001407332.1:c.438C>G, NM_001407332.1:c.438C>T, NM_001407330.1:c.438C>G, NM_001407330.1:c.438C>T, XM_006720667.5:c.438C>G, XM_006720667.5:c.438C>T, XM_005254639.5:c.438C>G, XM_005254639.5:c.438C>T, XM_005254650.4:c.330C>G, XM_005254650.4:c.330C>T, XM_017022539.3:c.438C>G, XM_017022539.3:c.438C>T, XM_005254646.3:c.330C>G, XM_005254646.3:c.330C>T, XM_017022538.3:c.438C>G, XM_017022538.3:c.438C>T, XM_047433004.1:c.438C>G, XM_047433004.1:c.438C>T, XM_047433003.1:c.438C>G, XM_047433003.1:c.438C>T, XM_047433001.1:c.438C>G, XM_047433001.1:c.438C>T, XM_047433000.1:c.438C>G, XM_047433000.1:c.438C>T, XM_047433005.1:c.330C>G, XM_047433005.1:c.330C>T, XM_047433002.1:c.438C>G, XM_047433002.1:c.438C>T, NP_000357.3:p.Ile146Met, NP_001352710.1:p.Ile110Met, NP_001317280.1:p.Ile110Met, NP_001018008.1:p.Ile110Met, NP_001018020.1:p.Ile146Met, NP_001018007.1:p.Ile146Met, NP_001018006.1:p.Ile146Met, NP_001018004.1:p.Ile146Met, NP_001317273.1:p.Ile110Met, NP_001288218.1:p.Ile110Met, NP_001288173.1:p.Ile146Met, NP_001018005.1:p.Ile146Met, NP_001317275.1:p.Ile110Met, NP_001352705.1:p.Ile146Met, NP_001352711.1:p.Ile110Met, NP_001352707.1:p.Ile188Met, NP_001352708.1:p.Ile146Met, NP_001352706.1:p.Ile146Met, NP_001352709.1:p.Ile110Met, XP_006720730.3:p.Ile146Met, XP_005254696.3:p.Ile146Met, XP_005254707.1:p.Ile110Met, XP_016878028.2:p.Ile146Met, XP_005254703.1:p.Ile110Met, XP_016878027.2:p.Ile146Met, XP_047288960.1:p.Ile146Met, XP_047288959.1:p.Ile146Met, XP_047288957.1:p.Ile146Met, XP_047288956.1:p.Ile146Met, XP_047288961.1:p.Ile110Met, XP_047288958.1:p.Ile146Met

            6.

            rs1455822203 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              15:63060928 (GRCh38)
              15:63353127 (GRCh37)
              Canonical SPDI:
              NC_000015.10:63060927:G:A
              Gene:
              TPM1 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000015.10:g.63060928G>A, NC_000015.9:g.63353127G>A, NG_007557.1:g.23290G>A, NM_000366.6:c.552G>A, NM_000366.5:c.552G>A, NM_001365781.2:c.444G>A, NM_001365781.1:c.444G>A, NM_001330351.2:c.444G>A, NM_001330351.1:c.444G>A, NM_001018008.2:c.444G>A, NM_001018008.1:c.444G>A, NM_001018020.2:c.552G>A, NM_001018020.1:c.552G>A, NM_001018007.2:c.552G>A, NM_001018007.1:c.552G>A, NM_001018006.2:c.552G>A, NM_001018006.1:c.552G>A, NM_001018004.2:c.552G>A, NM_001018004.1:c.552G>A, NM_001330344.2:c.444G>A, NM_001330344.1:c.444G>A, NM_001301289.2:c.444G>A, NM_001301289.1:c.444G>A, NM_001301244.2:c.552G>A, NM_001301244.1:c.552G>A, NM_001018005.2:c.552G>A, NM_001018005.1:c.552G>A, NM_001330346.2:c.444G>A, NM_001330346.1:c.444G>A, NR_176341.1:n.635G>A, NR_176349.1:n.471G>A, NR_176353.1:n.531G>A, NR_176338.1:n.635G>A, NM_001407334.1:c.552G>A, NM_001407333.1:c.552G>A, NM_001407338.1:c.552G>A, NM_001407337.1:c.552G>A, NM_001407336.1:c.552G>A, NM_001365776.1:c.552G>A, NR_176352.1:n.531G>A, NM_001365782.1:c.444G>A, NR_176348.1:n.471G>A, NM_001407325.1:c.552G>A, NR_176351.1:n.531G>A, NM_001407341.1:c.444G>A, NM_001407340.1:c.444G>A, NR_176346.1:n.635G>A, NR_176344.1:n.761G>A, NR_176343.1:n.635G>A, NR_176342.1:n.635G>A, NM_001365778.1:c.678G>A, NR_176340.1:n.730G>A, NM_001407326.1:c.552G>A, NR_176337.1:n.635G>A, NR_176350.1:n.531G>A, NM_001407323.1:c.678G>A, NM_001407322.1:c.678G>A, NR_176345.1:n.635G>A, NM_001407335.1:c.552G>A, NM_001365779.1:c.552G>A, NM_001407331.1:c.552G>A, NM_001407329.1:c.552G>A, NR_176347.1:n.635G>A, NR_176339.1:n.730G>A, NM_001407324.1:c.678G>A, NM_001407328.1:c.552G>A, NM_001407327.1:c.552G>A, NM_001365777.1:c.552G>A, NM_001407344.1:c.444G>A, NM_001407342.1:c.444G>A, NM_001365780.1:c.444G>A, NM_001407332.1:c.552G>A, NM_001407330.1:c.552G>A, XM_006720667.5:c.552G>A, XM_005254639.5:c.552G>A, XM_005254650.4:c.444G>A, XM_017022539.3:c.552G>A, XM_005254646.3:c.444G>A, XM_017022538.3:c.552G>A, XM_047433004.1:c.552G>A, XM_047433003.1:c.552G>A, XM_047433001.1:c.552G>A, XM_047433000.1:c.552G>A, XM_047433005.1:c.444G>A, XM_047433002.1:c.552G>A

              7.

              rs1449770307 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                15:63057062 (GRCh38)
                15:63349261 (GRCh37)
                Canonical SPDI:
                NC_000015.10:63057061:G:T
                Gene:
                TPM1 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Clinical significance:
                likely-benign
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000015.10:g.63057062G>T, NC_000015.9:g.63349261G>T, NG_007557.1:g.19424G>T, NM_000366.6:c.318G>T, NM_000366.5:c.318G>T, NM_001365781.2:c.210G>T, NM_001365781.1:c.210G>T, NM_001330351.2:c.210G>T, NM_001330351.1:c.210G>T, NM_001018008.2:c.210G>T, NM_001018008.1:c.210G>T, NM_001018020.2:c.318G>T, NM_001018020.1:c.318G>T, NM_001018007.2:c.318G>T, NM_001018007.1:c.318G>T, NM_001018006.2:c.318G>T, NM_001018006.1:c.318G>T, NM_001018004.2:c.318G>T, NM_001018004.1:c.318G>T, NM_001330344.2:c.210G>T, NM_001330344.1:c.210G>T, NM_001301289.2:c.210G>T, NM_001301289.1:c.210G>T, NM_001301244.2:c.318G>T, NM_001301244.1:c.318G>T, NM_001018005.2:c.318G>T, NM_001018005.1:c.318G>T, NM_001330346.2:c.210G>T, NM_001330346.1:c.210G>T, NR_176341.1:n.401G>T, NR_176349.1:n.237G>T, NR_176353.1:n.297G>T, NR_176338.1:n.401G>T, NM_001407334.1:c.318G>T, NM_001407333.1:c.318G>T, NM_001407338.1:c.318G>T, NM_001407337.1:c.318G>T, NM_001407336.1:c.318G>T, NM_001365776.1:c.318G>T, NR_176352.1:n.297G>T, NM_001365782.1:c.210G>T, NR_176348.1:n.237G>T, NM_001407325.1:c.318G>T, NR_176351.1:n.297G>T, NM_001407341.1:c.210G>T, NM_001407340.1:c.210G>T, NR_176346.1:n.401G>T, NR_176344.1:n.527G>T, NR_176343.1:n.401G>T, NR_176342.1:n.401G>T, NM_001365778.1:c.444G>T, NR_176340.1:n.496G>T, NM_001407326.1:c.318G>T, NR_176337.1:n.401G>T, NR_176350.1:n.297G>T, NM_001407323.1:c.444G>T, NM_001407322.1:c.444G>T, NR_176345.1:n.401G>T, NM_001407335.1:c.318G>T, NM_001365779.1:c.318G>T, NM_001407331.1:c.318G>T, NM_001407329.1:c.318G>T, NR_176347.1:n.401G>T, NR_176339.1:n.496G>T, NM_001407324.1:c.444G>T, NM_001407328.1:c.318G>T, NM_001407327.1:c.318G>T, NM_001365777.1:c.318G>T, NM_001407344.1:c.210G>T, NM_001407342.1:c.210G>T, NM_001365780.1:c.210G>T, NM_001407332.1:c.318G>T, NM_001407330.1:c.318G>T, XM_006720667.5:c.318G>T, XM_005254639.5:c.318G>T, XM_005254650.4:c.210G>T, XM_017022539.3:c.318G>T, XM_005254646.3:c.210G>T, XM_017022538.3:c.318G>T, XM_047433004.1:c.318G>T, XM_047433003.1:c.318G>T, XM_047433001.1:c.318G>T, XM_047433000.1:c.318G>T, XM_047433005.1:c.210G>T, XM_047433002.1:c.318G>T

                8.

                rs1448738061 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  15:63042934 (GRCh38)
                  15:63335133 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:63042933:G:A,NC_000015.10:63042933:G:C
                  Gene:
                  TPM1 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant
                  Clinical significance:
                  uncertain-significance
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  C=0.000009/2 (GnomAD_exomes)
                  A=0.000035/1 (TOMMO)
                  HGVS:
                  NC_000015.10:g.63042934G>A, NC_000015.10:g.63042934G>C, NC_000015.9:g.63335133G>A, NC_000015.9:g.63335133G>C, NG_007557.1:g.5296G>A, NG_007557.1:g.5296G>C, NM_000366.6:c.105G>A, NM_000366.6:c.105G>C, NM_000366.5:c.105G>A, NM_000366.5:c.105G>C, NM_001018020.2:c.105G>A, NM_001018020.2:c.105G>C, NM_001018020.1:c.105G>A, NM_001018020.1:c.105G>C, NM_001018007.2:c.105G>A, NM_001018007.2:c.105G>C, NM_001018007.1:c.105G>A, NM_001018007.1:c.105G>C, NM_001018006.2:c.105G>A, NM_001018006.2:c.105G>C, NM_001018006.1:c.105G>A, NM_001018006.1:c.105G>C, NM_001018004.2:c.105G>A, NM_001018004.2:c.105G>C, NM_001018004.1:c.105G>A, NM_001018004.1:c.105G>C, NM_001301244.2:c.105G>A, NM_001301244.2:c.105G>C, NM_001301244.1:c.105G>A, NM_001301244.1:c.105G>C, NM_001018005.2:c.105G>A, NM_001018005.2:c.105G>C, NM_001018005.1:c.105G>A, NM_001018005.1:c.105G>C, NR_176341.1:n.188G>A, NR_176341.1:n.188G>C, NR_176338.1:n.188G>A, NR_176338.1:n.188G>C, NM_001407334.1:c.105G>A, NM_001407334.1:c.105G>C, NM_001407333.1:c.105G>A, NM_001407333.1:c.105G>C, NM_001407338.1:c.105G>A, NM_001407338.1:c.105G>C, NM_001407337.1:c.105G>A, NM_001407337.1:c.105G>C, NM_001407336.1:c.105G>A, NM_001407336.1:c.105G>C, NM_001365776.1:c.105G>A, NM_001365776.1:c.105G>C, NM_001407325.1:c.105G>A, NM_001407325.1:c.105G>C, NR_176346.1:n.188G>A, NR_176346.1:n.188G>C, NR_176344.1:n.188G>A, NR_176344.1:n.188G>C, NR_176343.1:n.188G>A, NR_176343.1:n.188G>C, NR_176342.1:n.188G>A, NR_176342.1:n.188G>C, NM_001365778.1:c.105G>A, NM_001365778.1:c.105G>C, NR_176340.1:n.188G>A, NR_176340.1:n.188G>C, NM_001407326.1:c.105G>A, NM_001407326.1:c.105G>C, NR_176337.1:n.188G>A, NR_176337.1:n.188G>C, NM_001407323.1:c.105G>A, NM_001407323.1:c.105G>C, NM_001407322.1:c.105G>A, NM_001407322.1:c.105G>C, NR_176345.1:n.188G>A, NR_176345.1:n.188G>C, NM_001407335.1:c.105G>A, NM_001407335.1:c.105G>C, NM_001365779.1:c.105G>A, NM_001365779.1:c.105G>C, NM_001407331.1:c.105G>A, NM_001407331.1:c.105G>C, NM_001407329.1:c.105G>A, NM_001407329.1:c.105G>C, NR_176347.1:n.188G>A, NR_176347.1:n.188G>C, NR_176339.1:n.188G>A, NR_176339.1:n.188G>C, NM_001407324.1:c.105G>A, NM_001407324.1:c.105G>C, NM_001407328.1:c.105G>A, NM_001407328.1:c.105G>C, NM_001407327.1:c.105G>A, NM_001407327.1:c.105G>C, NM_001365777.1:c.105G>A, NM_001365777.1:c.105G>C, NM_001407332.1:c.105G>A, NM_001407332.1:c.105G>C, NM_001407330.1:c.105G>A, NM_001407330.1:c.105G>C, XM_006720667.5:c.105G>A, XM_006720667.5:c.105G>C, XM_005254639.5:c.105G>A, XM_005254639.5:c.105G>C, XM_017022539.3:c.105G>A, XM_017022539.3:c.105G>C, XM_017022538.3:c.105G>A, XM_017022538.3:c.105G>C, XM_047433004.1:c.105G>A, XM_047433004.1:c.105G>C, XM_047433003.1:c.105G>A, XM_047433003.1:c.105G>C, XM_047433001.1:c.105G>A, XM_047433001.1:c.105G>C, XM_047433000.1:c.105G>A, XM_047433000.1:c.105G>C, XM_047433002.1:c.105G>A, XM_047433002.1:c.105G>C, NP_000357.3:p.Arg35Ser, NP_001018020.1:p.Arg35Ser, NP_001018007.1:p.Arg35Ser, NP_001018006.1:p.Arg35Ser, NP_001018004.1:p.Arg35Ser, NP_001288173.1:p.Arg35Ser, NP_001018005.1:p.Arg35Ser, NP_001352705.1:p.Arg35Ser, NP_001352707.1:p.Arg35Ser, NP_001352708.1:p.Arg35Ser, NP_001352706.1:p.Arg35Ser, XP_006720730.3:p.Arg35Ser, XP_005254696.3:p.Arg35Ser, XP_016878028.2:p.Arg35Ser, XP_016878027.2:p.Arg35Ser, XP_047288960.1:p.Arg35Ser, XP_047288959.1:p.Arg35Ser, XP_047288957.1:p.Arg35Ser, XP_047288956.1:p.Arg35Ser, XP_047288958.1:p.Arg35Ser

                  9.

                  rs1447267149 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    15:63042918 (GRCh38)
                    15:63335117 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:63042917:A:G
                    Gene:
                    TPM1 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000015.10:g.63042918A>G, NC_000015.9:g.63335117A>G, NG_007557.1:g.5280A>G, NM_000366.6:c.89A>G, NM_000366.5:c.89A>G, NM_001018020.2:c.89A>G, NM_001018020.1:c.89A>G, NM_001018007.2:c.89A>G, NM_001018007.1:c.89A>G, NM_001018006.2:c.89A>G, NM_001018006.1:c.89A>G, NM_001018004.2:c.89A>G, NM_001018004.1:c.89A>G, NM_001301244.2:c.89A>G, NM_001301244.1:c.89A>G, NM_001018005.2:c.89A>G, NM_001018005.1:c.89A>G, NR_176341.1:n.172A>G, NR_176338.1:n.172A>G, NM_001407334.1:c.89A>G, NM_001407333.1:c.89A>G, NM_001407338.1:c.89A>G, NM_001407337.1:c.89A>G, NM_001407336.1:c.89A>G, NM_001365776.1:c.89A>G, NM_001407325.1:c.89A>G, NR_176346.1:n.172A>G, NR_176344.1:n.172A>G, NR_176343.1:n.172A>G, NR_176342.1:n.172A>G, NM_001365778.1:c.89A>G, NR_176340.1:n.172A>G, NM_001407326.1:c.89A>G, NR_176337.1:n.172A>G, NM_001407323.1:c.89A>G, NM_001407322.1:c.89A>G, NR_176345.1:n.172A>G, NM_001407335.1:c.89A>G, NM_001365779.1:c.89A>G, NM_001407331.1:c.89A>G, NM_001407329.1:c.89A>G, NR_176347.1:n.172A>G, NR_176339.1:n.172A>G, NM_001407324.1:c.89A>G, NM_001407328.1:c.89A>G, NM_001407327.1:c.89A>G, NM_001365777.1:c.89A>G, NM_001407332.1:c.89A>G, NM_001407330.1:c.89A>G, XM_006720667.5:c.89A>G, XM_005254639.5:c.89A>G, XM_017022539.3:c.89A>G, XM_017022538.3:c.89A>G, XM_047433004.1:c.89A>G, XM_047433003.1:c.89A>G, XM_047433001.1:c.89A>G, XM_047433000.1:c.89A>G, XM_047433002.1:c.89A>G, NP_000357.3:p.Lys30Arg, NP_001018020.1:p.Lys30Arg, NP_001018007.1:p.Lys30Arg, NP_001018006.1:p.Lys30Arg, NP_001018004.1:p.Lys30Arg, NP_001288173.1:p.Lys30Arg, NP_001018005.1:p.Lys30Arg, NP_001352705.1:p.Lys30Arg, NP_001352707.1:p.Lys30Arg, NP_001352708.1:p.Lys30Arg, NP_001352706.1:p.Lys30Arg, XP_006720730.3:p.Lys30Arg, XP_005254696.3:p.Lys30Arg, XP_016878028.2:p.Lys30Arg, XP_016878027.2:p.Lys30Arg, XP_047288960.1:p.Lys30Arg, XP_047288959.1:p.Lys30Arg, XP_047288957.1:p.Lys30Arg, XP_047288956.1:p.Lys30Arg, XP_047288958.1:p.Lys30Arg

                    10.

                    rs1439080260 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      15:63042868 (GRCh38)
                      15:63335067 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:63042867:C:G,NC_000015.10:63042867:C:T
                      Gene:
                      TPM1 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                      Clinical significance:
                      likely-benign
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000031/1 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000015.10:g.63042868C>G, NC_000015.10:g.63042868C>T, NC_000015.9:g.63335067C>G, NC_000015.9:g.63335067C>T, NG_007557.1:g.5230C>G, NG_007557.1:g.5230C>T, NM_000366.6:c.39C>G, NM_000366.6:c.39C>T, NM_000366.5:c.39C>G, NM_000366.5:c.39C>T, NM_001018020.2:c.39C>G, NM_001018020.2:c.39C>T, NM_001018020.1:c.39C>G, NM_001018020.1:c.39C>T, NM_001018007.2:c.39C>G, NM_001018007.2:c.39C>T, NM_001018007.1:c.39C>G, NM_001018007.1:c.39C>T, NM_001018006.2:c.39C>G, NM_001018006.2:c.39C>T, NM_001018006.1:c.39C>G, NM_001018006.1:c.39C>T, NM_001018004.2:c.39C>G, NM_001018004.2:c.39C>T, NM_001018004.1:c.39C>G, NM_001018004.1:c.39C>T, NM_001301244.2:c.39C>G, NM_001301244.2:c.39C>T, NM_001301244.1:c.39C>G, NM_001301244.1:c.39C>T, NM_001018005.2:c.39C>G, NM_001018005.2:c.39C>T, NM_001018005.1:c.39C>G, NM_001018005.1:c.39C>T, NR_176341.1:n.122C>G, NR_176341.1:n.122C>T, NR_176338.1:n.122C>G, NR_176338.1:n.122C>T, NM_001407334.1:c.39C>G, NM_001407334.1:c.39C>T, NM_001407333.1:c.39C>G, NM_001407333.1:c.39C>T, NM_001407338.1:c.39C>G, NM_001407338.1:c.39C>T, NM_001407337.1:c.39C>G, NM_001407337.1:c.39C>T, NM_001407336.1:c.39C>G, NM_001407336.1:c.39C>T, NM_001365776.1:c.39C>G, NM_001365776.1:c.39C>T, NM_001407325.1:c.39C>G, NM_001407325.1:c.39C>T, NR_176346.1:n.122C>G, NR_176346.1:n.122C>T, NR_176344.1:n.122C>G, NR_176344.1:n.122C>T, NR_176343.1:n.122C>G, NR_176343.1:n.122C>T, NR_176342.1:n.122C>G, NR_176342.1:n.122C>T, NM_001365778.1:c.39C>G, NM_001365778.1:c.39C>T, NR_176340.1:n.122C>G, NR_176340.1:n.122C>T, NM_001407326.1:c.39C>G, NM_001407326.1:c.39C>T, NR_176337.1:n.122C>G, NR_176337.1:n.122C>T, NM_001407323.1:c.39C>G, NM_001407323.1:c.39C>T, NM_001407322.1:c.39C>G, NM_001407322.1:c.39C>T, NR_176345.1:n.122C>G, NR_176345.1:n.122C>T, NM_001407335.1:c.39C>G, NM_001407335.1:c.39C>T, NM_001365779.1:c.39C>G, NM_001365779.1:c.39C>T, NM_001407331.1:c.39C>G, NM_001407331.1:c.39C>T, NM_001407329.1:c.39C>G, NM_001407329.1:c.39C>T, NR_176347.1:n.122C>G, NR_176347.1:n.122C>T, NR_176339.1:n.122C>G, NR_176339.1:n.122C>T, NM_001407324.1:c.39C>G, NM_001407324.1:c.39C>T, NM_001407328.1:c.39C>G, NM_001407328.1:c.39C>T, NM_001407327.1:c.39C>G, NM_001407327.1:c.39C>T, NM_001365777.1:c.39C>G, NM_001365777.1:c.39C>T, NM_001407332.1:c.39C>G, NM_001407332.1:c.39C>T, NM_001407330.1:c.39C>G, NM_001407330.1:c.39C>T, XM_006720667.5:c.39C>G, XM_006720667.5:c.39C>T, XM_005254639.5:c.39C>G, XM_005254639.5:c.39C>T, XM_017022539.3:c.39C>G, XM_017022539.3:c.39C>T, XM_017022538.3:c.39C>G, XM_017022538.3:c.39C>T, XM_047433004.1:c.39C>G, XM_047433004.1:c.39C>T, XM_047433003.1:c.39C>G, XM_047433003.1:c.39C>T, XM_047433001.1:c.39C>G, XM_047433001.1:c.39C>T, XM_047433000.1:c.39C>G, XM_047433000.1:c.39C>T, XM_047433002.1:c.39C>G, XM_047433002.1:c.39C>T

                      11.

                      rs1437900828 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        15:63062217 (GRCh38)
                        15:63354416 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:63062216:C:T
                        Gene:
                        TPM1 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_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_000015.10:g.63062217C>T, NC_000015.9:g.63354416C>T, NG_007557.1:g.24579C>T, NM_000366.6:c.642C>T, NM_000366.5:c.642C>T, NM_001365781.2:c.534C>T, NM_001365781.1:c.534C>T, NM_001330351.2:c.534C>T, NM_001330351.1:c.534C>T, NM_001018008.2:c.534C>T, NM_001018008.1:c.534C>T, NM_001018020.2:c.642C>T, NM_001018020.1:c.642C>T, NM_001018007.2:c.642C>T, NM_001018007.1:c.642C>T, NM_001018006.2:c.642C>T, NM_001018006.1:c.642C>T, NM_001018004.2:c.642C>T, NM_001018004.1:c.642C>T, NM_001330344.2:c.534C>T, NM_001330344.1:c.534C>T, NM_001301289.2:c.534C>T, NM_001301289.1:c.534C>T, NM_001301244.2:c.642C>T, NM_001301244.1:c.642C>T, NM_001018005.2:c.642C>T, NM_001018005.1:c.642C>T, NM_001330346.2:c.534C>T, NM_001330346.1:c.534C>T, NR_176341.1:n.801C>T, NR_176349.1:n.637C>T, NR_176353.1:n.621C>T, NR_176338.1:n.801C>T, NM_001407334.1:c.642C>T, NM_001407333.1:c.642C>T, NM_001407338.1:c.642C>T, NM_001407337.1:c.642C>T, NM_001407336.1:c.642C>T, NM_001365776.1:c.642C>T, NR_176352.1:n.697C>T, NM_001365782.1:c.534C>T, NR_176348.1:n.637C>T, NM_001407325.1:c.642C>T, NR_176351.1:n.697C>T, NM_001407341.1:c.534C>T, NM_001407340.1:c.534C>T, NR_176346.1:n.801C>T, NR_176344.1:n.927C>T, NR_176343.1:n.801C>T, NR_176342.1:n.801C>T, NM_001365778.1:c.768C>T, NR_176340.1:n.820C>T, NM_001407326.1:c.642C>T, NR_176337.1:n.801C>T, NR_176350.1:n.697C>T, NM_001407323.1:c.768C>T, NM_001407322.1:c.768C>T, NR_176345.1:n.801C>T, NM_001407335.1:c.642C>T, NM_001365779.1:c.642C>T, NM_001407331.1:c.642C>T, NM_001407329.1:c.642C>T, NR_176347.1:n.801C>T, NR_176339.1:n.896C>T, NM_001407324.1:c.768C>T, NM_001407328.1:c.642C>T, NM_001407327.1:c.642C>T, NM_001365777.1:c.642C>T, NM_001407344.1:c.534C>T, NM_001407342.1:c.534C>T, NM_001365780.1:c.534C>T, NM_001407332.1:c.642C>T, NM_001407330.1:c.642C>T, XM_006720667.5:c.642C>T, XM_005254639.5:c.642C>T, XM_005254650.4:c.534C>T, XM_017022539.3:c.642C>T, XM_005254646.3:c.534C>T, XM_017022538.3:c.642C>T, XM_047433004.1:c.642C>T, XM_047433003.1:c.642C>T, XM_047433001.1:c.642C>T, XM_047433000.1:c.642C>T, XM_047433005.1:c.534C>T, XM_047433002.1:c.642C>T

                        12.

                        rs1437698471 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          15:63042890 (GRCh38)
                          15:63335089 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:63042889:C:A
                          Gene:
                          TPM1 (Varview)
                          Functional Consequence:
                          synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
                          Clinical significance:
                          not-provided,benign
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.00003/1 (ALFA)
                          A=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000015.10:g.63042890C>A, NC_000015.9:g.63335089C>A, NG_007557.1:g.5252C>A, NM_000366.6:c.61C>A, NM_000366.5:c.61C>A, NM_001018020.2:c.61C>A, NM_001018020.1:c.61C>A, NM_001018007.2:c.61C>A, NM_001018007.1:c.61C>A, NM_001018006.2:c.61C>A, NM_001018006.1:c.61C>A, NM_001018004.2:c.61C>A, NM_001018004.1:c.61C>A, NM_001301244.2:c.61C>A, NM_001301244.1:c.61C>A, NM_001018005.2:c.61C>A, NM_001018005.1:c.61C>A, NR_176341.1:n.144C>A, NR_176338.1:n.144C>A, NM_001407334.1:c.61C>A, NM_001407333.1:c.61C>A, NM_001407338.1:c.61C>A, NM_001407337.1:c.61C>A, NM_001407336.1:c.61C>A, NM_001365776.1:c.61C>A, NM_001407325.1:c.61C>A, NR_176346.1:n.144C>A, NR_176344.1:n.144C>A, NR_176343.1:n.144C>A, NR_176342.1:n.144C>A, NM_001365778.1:c.61C>A, NR_176340.1:n.144C>A, NM_001407326.1:c.61C>A, NR_176337.1:n.144C>A, NM_001407323.1:c.61C>A, NM_001407322.1:c.61C>A, NR_176345.1:n.144C>A, NM_001407335.1:c.61C>A, NM_001365779.1:c.61C>A, NM_001407331.1:c.61C>A, NM_001407329.1:c.61C>A, NR_176347.1:n.144C>A, NR_176339.1:n.144C>A, NM_001407324.1:c.61C>A, NM_001407328.1:c.61C>A, NM_001407327.1:c.61C>A, NM_001365777.1:c.61C>A, NM_001407332.1:c.61C>A, NM_001407330.1:c.61C>A, XM_006720667.5:c.61C>A, XM_005254639.5:c.61C>A, XM_017022539.3:c.61C>A, XM_017022538.3:c.61C>A, XM_047433004.1:c.61C>A, XM_047433003.1:c.61C>A, XM_047433001.1:c.61C>A, XM_047433000.1:c.61C>A, XM_047433002.1:c.61C>A

                          13.

                          rs1408922049 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            15:63059653 (GRCh38)
                            15:63351852 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:63059652:T:G
                            Gene:
                            TPM1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            G=0.000342/1 (KOREAN)
                            HGVS:
                            NC_000015.10:g.63059653T>G, NC_000015.9:g.63351852T>G, NG_007557.1:g.22015T>G, NM_000366.6:c.465T>G, NM_000366.5:c.465T>G, NM_001365781.2:c.357T>G, NM_001365781.1:c.357T>G, NM_001330351.2:c.357T>G, NM_001330351.1:c.357T>G, NM_001018008.2:c.357T>G, NM_001018008.1:c.357T>G, NM_001018020.2:c.465T>G, NM_001018020.1:c.465T>G, NM_001018007.2:c.465T>G, NM_001018007.1:c.465T>G, NM_001018006.2:c.465T>G, NM_001018006.1:c.465T>G, NM_001018004.2:c.465T>G, NM_001018004.1:c.465T>G, NM_001330344.2:c.357T>G, NM_001330344.1:c.357T>G, NM_001301289.2:c.357T>G, NM_001301289.1:c.357T>G, NM_001301244.2:c.465T>G, NM_001301244.1:c.465T>G, NM_001018005.2:c.465T>G, NM_001018005.1:c.465T>G, NM_001330346.2:c.357T>G, NM_001330346.1:c.357T>G, NR_176341.1:n.548T>G, NR_176349.1:n.384T>G, NR_176353.1:n.444T>G, NR_176338.1:n.548T>G, NM_001407334.1:c.465T>G, NM_001407333.1:c.465T>G, NM_001407338.1:c.465T>G, NM_001407337.1:c.465T>G, NM_001407336.1:c.465T>G, NM_001365776.1:c.465T>G, NR_176352.1:n.444T>G, NM_001365782.1:c.357T>G, NR_176348.1:n.384T>G, NM_001407325.1:c.465T>G, NR_176351.1:n.444T>G, NM_001407341.1:c.357T>G, NM_001407340.1:c.357T>G, NR_176346.1:n.548T>G, NR_176344.1:n.674T>G, NR_176343.1:n.548T>G, NR_176342.1:n.548T>G, NM_001365778.1:c.591T>G, NR_176340.1:n.643T>G, NM_001407326.1:c.465T>G, NR_176337.1:n.548T>G, NR_176350.1:n.444T>G, NM_001407323.1:c.591T>G, NM_001407322.1:c.591T>G, NR_176345.1:n.548T>G, NM_001407335.1:c.465T>G, NM_001365779.1:c.465T>G, NM_001407331.1:c.465T>G, NM_001407329.1:c.465T>G, NR_176347.1:n.548T>G, NR_176339.1:n.643T>G, NM_001407324.1:c.591T>G, NM_001407328.1:c.465T>G, NM_001407327.1:c.465T>G, NM_001365777.1:c.465T>G, NM_001407344.1:c.357T>G, NM_001407342.1:c.357T>G, NM_001365780.1:c.357T>G, NM_001407332.1:c.465T>G, NM_001407330.1:c.465T>G, XM_006720667.5:c.465T>G, XM_005254639.5:c.465T>G, XM_005254650.4:c.357T>G, XM_017022539.3:c.465T>G, XM_005254646.3:c.357T>G, XM_017022538.3:c.465T>G, XM_047433004.1:c.465T>G, XM_047433003.1:c.465T>G, XM_047433001.1:c.465T>G, XM_047433000.1:c.465T>G, XM_047433005.1:c.357T>G, XM_047433002.1:c.465T>G

                            14.

                            rs1407302155 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              15:63062223 (GRCh38)
                              15:63354422 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:63062222:G:A
                              Gene:
                              TPM1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000015.10:g.63062223G>A, NC_000015.9:g.63354422G>A, NG_007557.1:g.24585G>A, NM_000366.6:c.648G>A, NM_000366.5:c.648G>A, NM_001365781.2:c.540G>A, NM_001365781.1:c.540G>A, NM_001330351.2:c.540G>A, NM_001330351.1:c.540G>A, NM_001018008.2:c.540G>A, NM_001018008.1:c.540G>A, NM_001018020.2:c.648G>A, NM_001018020.1:c.648G>A, NM_001018007.2:c.648G>A, NM_001018007.1:c.648G>A, NM_001018006.2:c.648G>A, NM_001018006.1:c.648G>A, NM_001018004.2:c.648G>A, NM_001018004.1:c.648G>A, NM_001330344.2:c.540G>A, NM_001330344.1:c.540G>A, NM_001301289.2:c.540G>A, NM_001301289.1:c.540G>A, NM_001301244.2:c.648G>A, NM_001301244.1:c.648G>A, NM_001018005.2:c.648G>A, NM_001018005.1:c.648G>A, NM_001330346.2:c.540G>A, NM_001330346.1:c.540G>A, NR_176341.1:n.807G>A, NR_176349.1:n.643G>A, NR_176353.1:n.627G>A, NR_176338.1:n.807G>A, NM_001407334.1:c.648G>A, NM_001407333.1:c.648G>A, NM_001407338.1:c.648G>A, NM_001407337.1:c.648G>A, NM_001407336.1:c.648G>A, NM_001365776.1:c.648G>A, NR_176352.1:n.703G>A, NM_001365782.1:c.540G>A, NR_176348.1:n.643G>A, NM_001407325.1:c.648G>A, NR_176351.1:n.703G>A, NM_001407341.1:c.540G>A, NM_001407340.1:c.540G>A, NR_176346.1:n.807G>A, NR_176344.1:n.933G>A, NR_176343.1:n.807G>A, NR_176342.1:n.807G>A, NM_001365778.1:c.774G>A, NR_176340.1:n.826G>A, NM_001407326.1:c.648G>A, NR_176337.1:n.807G>A, NR_176350.1:n.703G>A, NM_001407323.1:c.774G>A, NM_001407322.1:c.774G>A, NR_176345.1:n.807G>A, NM_001407335.1:c.648G>A, NM_001365779.1:c.648G>A, NM_001407331.1:c.648G>A, NM_001407329.1:c.648G>A, NR_176347.1:n.807G>A, NR_176339.1:n.902G>A, NM_001407324.1:c.774G>A, NM_001407328.1:c.648G>A, NM_001407327.1:c.648G>A, NM_001365777.1:c.648G>A, NM_001407344.1:c.540G>A, NM_001407342.1:c.540G>A, NM_001365780.1:c.540G>A, NM_001407332.1:c.648G>A, NM_001407330.1:c.648G>A, XM_006720667.5:c.648G>A, XM_005254639.5:c.648G>A, XM_005254650.4:c.540G>A, XM_017022539.3:c.648G>A, XM_005254646.3:c.540G>A, XM_017022538.3:c.648G>A, XM_047433004.1:c.648G>A, XM_047433003.1:c.648G>A, XM_047433001.1:c.648G>A, XM_047433000.1:c.648G>A, XM_047433005.1:c.540G>A, XM_047433002.1:c.648G>A

                              15.

                              rs1406954948 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C,T [Show Flanks]
                                Chromosome:
                                15:63044042 (GRCh38)
                                15:63336241 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:63044041:G:C,NC_000015.10:63044041:G:T
                                Gene:
                                TPM1 (Varview)
                                Functional Consequence:
                                missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0./0 (GnomAD)
                                T=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                NC_000015.10:g.63044042G>C, NC_000015.10:g.63044042G>T, NC_000015.9:g.63336241G>C, NC_000015.9:g.63336241G>T, NG_007557.1:g.6404G>C, NG_007557.1:g.6404G>T, NM_000366.6:c.130G>C, NM_000366.6:c.130G>T, NM_000366.5:c.130G>C, NM_000366.5:c.130G>T, NM_001018006.2:c.130G>C, NM_001018006.2:c.130G>T, NM_001018006.1:c.130G>C, NM_001018006.1:c.130G>T, NM_001018004.2:c.130G>C, NM_001018004.2:c.130G>T, NM_001018004.1:c.130G>C, NM_001018004.1:c.130G>T, NM_001018005.2:c.130G>C, NM_001018005.2:c.130G>T, NM_001018005.1:c.130G>C, NM_001018005.1:c.130G>T, NR_176341.1:n.213G>C, NR_176341.1:n.213G>T, NR_176349.1:n.49G>C, NR_176349.1:n.49G>T, NR_176338.1:n.213G>C, NR_176338.1:n.213G>T, NM_001407333.1:c.130G>C, NM_001407333.1:c.130G>T, NM_001407337.1:c.130G>C, NM_001407337.1:c.130G>T, NM_001365776.1:c.130G>C, NM_001365776.1:c.130G>T, NR_176348.1:n.49G>C, NR_176348.1:n.49G>T, NM_001407325.1:c.130G>C, NM_001407325.1:c.130G>T, NR_176346.1:n.213G>C, NR_176346.1:n.213G>T, NR_176344.1:n.339G>C, NR_176344.1:n.339G>T, NR_176343.1:n.213G>C, NR_176343.1:n.213G>T, NM_001365778.1:c.256G>C, NM_001365778.1:c.256G>T, NR_176340.1:n.213G>C, NR_176340.1:n.213G>T, NM_001407326.1:c.130G>C, NM_001407326.1:c.130G>T, NR_176337.1:n.213G>C, NR_176337.1:n.213G>T, NM_001407323.1:c.256G>C, NM_001407323.1:c.256G>T, NM_001407322.1:c.256G>C, NM_001407322.1:c.256G>T, NR_176345.1:n.213G>C, NR_176345.1:n.213G>T, NM_001365779.1:c.130G>C, NM_001365779.1:c.130G>T, NM_001407331.1:c.130G>C, NM_001407331.1:c.130G>T, NR_176347.1:n.213G>C, NR_176347.1:n.213G>T, NR_176339.1:n.213G>C, NR_176339.1:n.213G>T, NM_001407324.1:c.256G>C, NM_001407324.1:c.256G>T, NM_001407327.1:c.130G>C, NM_001407327.1:c.130G>T, NM_001365777.1:c.130G>C, NM_001365777.1:c.130G>T, NM_001407330.1:c.130G>C, NM_001407330.1:c.130G>T, XM_006720667.5:c.130G>C, XM_006720667.5:c.130G>T, XM_005254639.5:c.130G>C, XM_005254639.5:c.130G>T, XM_017022539.3:c.130G>C, XM_017022539.3:c.130G>T, XM_017022538.3:c.130G>C, XM_017022538.3:c.130G>T, NP_000357.3:p.Val44Leu, NP_000357.3:p.Val44Leu, NP_001018006.1:p.Val44Leu, NP_001018006.1:p.Val44Leu, NP_001018004.1:p.Val44Leu, NP_001018004.1:p.Val44Leu, NP_001018005.1:p.Val44Leu, NP_001018005.1:p.Val44Leu, NP_001352705.1:p.Val44Leu, NP_001352705.1:p.Val44Leu, NP_001352707.1:p.Val86Leu, NP_001352707.1:p.Val86Leu, NP_001352708.1:p.Val44Leu, NP_001352708.1:p.Val44Leu, NP_001352706.1:p.Val44Leu, NP_001352706.1:p.Val44Leu, XP_006720730.3:p.Val44Leu, XP_006720730.3:p.Val44Leu, XP_005254696.3:p.Val44Leu, XP_005254696.3:p.Val44Leu, XP_016878028.2:p.Val44Leu, XP_016878028.2:p.Val44Leu, XP_016878027.2:p.Val44Leu, XP_016878027.2:p.Val44Leu

                                16.

                                rs1400249209 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  15:63064092 (GRCh38)
                                  15:63356291 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:63064091:C:T
                                  Gene:
                                  TPM1 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000015.10:g.63064092C>T, NC_000015.9:g.63356291C>T, NG_007557.1:g.26454C>T, NM_000366.6:c.801C>T, NM_000366.5:c.801C>T, NM_001365781.2:c.693C>T, NM_001365781.1:c.693C>T, NM_001301244.2:c.801C>T, NM_001301244.1:c.801C>T, NM_001018005.2:c.801C>T, NM_001018005.1:c.801C>T, NM_001330346.2:c.693C>T, NM_001330346.1:c.693C>T, NR_176341.1:n.960C>T, NM_001407334.1:c.801C>T, NM_001407333.1:c.801C>T, NM_001365782.1:c.693C>T, NM_001407325.1:c.*1283C>T, NR_176351.1:n.2274C>T, NM_001407341.1:c.*1283C>T, NM_001407340.1:c.*1283C>T, NR_176346.1:n.960C>T, NR_176343.1:n.960C>T, NR_176342.1:n.960C>T, NM_001407326.1:c.801C>T, NM_001407323.1:c.927C>T, NM_001407322.1:c.927C>T, NR_176345.1:n.960C>T, NM_001407335.1:c.801C>T, NM_001365779.1:c.801C>T, NM_001407331.1:c.801C>T, NM_001407329.1:c.801C>T, NR_176339.1:n.1055C>T, NM_001407324.1:c.927C>T, NM_001407344.1:c.693C>T, NM_001407332.1:c.801C>T, NM_001407330.1:c.801C>T, XM_006720667.5:c.801C>T, XM_005254650.4:c.693C>T, XM_017022538.3:c.801C>T, XM_047433003.1:c.801C>T, XM_047433002.1:c.801C>T

                                  17.

                                  rs1400074860 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    15:63057017 (GRCh38)
                                    15:63349216 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:63057016:C:T
                                    Gene:
                                    TPM1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Clinical significance:
                                    likely-benign,uncertain-significance
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000015.10:g.63057017C>T, NC_000015.9:g.63349216C>T, NG_007557.1:g.19379C>T, NM_000366.6:c.273C>T, NM_000366.5:c.273C>T, NM_001365781.2:c.165C>T, NM_001365781.1:c.165C>T, NM_001330351.2:c.165C>T, NM_001330351.1:c.165C>T, NM_001018008.2:c.165C>T, NM_001018008.1:c.165C>T, NM_001018020.2:c.273C>T, NM_001018020.1:c.273C>T, NM_001018007.2:c.273C>T, NM_001018007.1:c.273C>T, NM_001018006.2:c.273C>T, NM_001018006.1:c.273C>T, NM_001018004.2:c.273C>T, NM_001018004.1:c.273C>T, NM_001330344.2:c.165C>T, NM_001330344.1:c.165C>T, NM_001301289.2:c.165C>T, NM_001301289.1:c.165C>T, NM_001301244.2:c.273C>T, NM_001301244.1:c.273C>T, NM_001018005.2:c.273C>T, NM_001018005.1:c.273C>T, NM_001330346.2:c.165C>T, NM_001330346.1:c.165C>T, NR_176341.1:n.356C>T, NR_176349.1:n.192C>T, NR_176353.1:n.252C>T, NR_176338.1:n.356C>T, NM_001407334.1:c.273C>T, NM_001407333.1:c.273C>T, NM_001407338.1:c.273C>T, NM_001407337.1:c.273C>T, NM_001407336.1:c.273C>T, NM_001365776.1:c.273C>T, NR_176352.1:n.252C>T, NM_001365782.1:c.165C>T, NR_176348.1:n.192C>T, NM_001407325.1:c.273C>T, NR_176351.1:n.252C>T, NM_001407341.1:c.165C>T, NM_001407340.1:c.165C>T, NR_176346.1:n.356C>T, NR_176344.1:n.482C>T, NR_176343.1:n.356C>T, NR_176342.1:n.356C>T, NM_001365778.1:c.399C>T, NR_176340.1:n.451C>T, NM_001407326.1:c.273C>T, NR_176337.1:n.356C>T, NR_176350.1:n.252C>T, NM_001407323.1:c.399C>T, NM_001407322.1:c.399C>T, NR_176345.1:n.356C>T, NM_001407335.1:c.273C>T, NM_001365779.1:c.273C>T, NM_001407331.1:c.273C>T, NM_001407329.1:c.273C>T, NR_176347.1:n.356C>T, NR_176339.1:n.451C>T, NM_001407324.1:c.399C>T, NM_001407328.1:c.273C>T, NM_001407327.1:c.273C>T, NM_001365777.1:c.273C>T, NM_001407344.1:c.165C>T, NM_001407342.1:c.165C>T, NM_001365780.1:c.165C>T, NM_001407332.1:c.273C>T, NM_001407330.1:c.273C>T, XM_006720667.5:c.273C>T, XM_005254639.5:c.273C>T, XM_005254650.4:c.165C>T, XM_017022539.3:c.273C>T, XM_005254646.3:c.165C>T, XM_017022538.3:c.273C>T, XM_047433004.1:c.273C>T, XM_047433003.1:c.273C>T, XM_047433001.1:c.273C>T, XM_047433000.1:c.273C>T, XM_047433005.1:c.165C>T, XM_047433002.1:c.273C>T

                                    18.

                                    rs1395706088 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C,G [Show Flanks]
                                      Chromosome:
                                      15:63064094 (GRCh38)
                                      15:63356293 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:63064093:A:C,NC_000015.10:63064093:A:G
                                      Gene:
                                      TPM1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                                      Clinical significance:
                                      uncertain-significance
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000015.10:g.63064094A>C, NC_000015.10:g.63064094A>G, NC_000015.9:g.63356293A>C, NC_000015.9:g.63356293A>G, NG_007557.1:g.26456A>C, NG_007557.1:g.26456A>G, NM_000366.6:c.803A>C, NM_000366.6:c.803A>G, NM_000366.5:c.803A>C, NM_000366.5:c.803A>G, NM_001365781.2:c.695A>C, NM_001365781.2:c.695A>G, NM_001365781.1:c.695A>C, NM_001365781.1:c.695A>G, NM_001301244.2:c.803A>C, NM_001301244.2:c.803A>G, NM_001301244.1:c.803A>C, NM_001301244.1:c.803A>G, NM_001018005.2:c.803A>C, NM_001018005.2:c.803A>G, NM_001018005.1:c.803A>C, NM_001018005.1:c.803A>G, NM_001330346.2:c.695A>C, NM_001330346.2:c.695A>G, NM_001330346.1:c.695A>C, NM_001330346.1:c.695A>G, NR_176341.1:n.962A>C, NR_176341.1:n.962A>G, NM_001407334.1:c.803A>C, NM_001407334.1:c.803A>G, NM_001407333.1:c.803A>C, NM_001407333.1:c.803A>G, NM_001365782.1:c.695A>C, NM_001365782.1:c.695A>G, NM_001407325.1:c.*1285A>C, NM_001407325.1:c.*1285A>G, NR_176351.1:n.2276A>C, NR_176351.1:n.2276A>G, NM_001407341.1:c.*1285A>C, NM_001407341.1:c.*1285A>G, NM_001407340.1:c.*1285A>C, NM_001407340.1:c.*1285A>G, NR_176346.1:n.962A>C, NR_176346.1:n.962A>G, NR_176343.1:n.962A>C, NR_176343.1:n.962A>G, NR_176342.1:n.962A>C, NR_176342.1:n.962A>G, NM_001407326.1:c.803A>C, NM_001407326.1:c.803A>G, NM_001407323.1:c.929A>C, NM_001407323.1:c.929A>G, NM_001407322.1:c.929A>C, NM_001407322.1:c.929A>G, NR_176345.1:n.962A>C, NR_176345.1:n.962A>G, NM_001407335.1:c.803A>C, NM_001407335.1:c.803A>G, NM_001365779.1:c.803A>C, NM_001365779.1:c.803A>G, NM_001407331.1:c.803A>C, NM_001407331.1:c.803A>G, NM_001407329.1:c.803A>C, NM_001407329.1:c.803A>G, NR_176339.1:n.1057A>C, NR_176339.1:n.1057A>G, NM_001407324.1:c.929A>C, NM_001407324.1:c.929A>G, NM_001407344.1:c.695A>C, NM_001407344.1:c.695A>G, NM_001407332.1:c.803A>C, NM_001407332.1:c.803A>G, NM_001407330.1:c.803A>C, NM_001407330.1:c.803A>G, XM_006720667.5:c.803A>C, XM_006720667.5:c.803A>G, XM_005254650.4:c.695A>C, XM_005254650.4:c.695A>G, XM_017022538.3:c.803A>C, XM_017022538.3:c.803A>G, XM_047433003.1:c.803A>C, XM_047433003.1:c.803A>G, XM_047433002.1:c.803A>C, XM_047433002.1:c.803A>G, NP_000357.3:p.Lys268Thr, NP_000357.3:p.Lys268Arg, NP_001352710.1:p.Lys232Thr, NP_001352710.1:p.Lys232Arg, NP_001288173.1:p.Lys268Thr, NP_001288173.1:p.Lys268Arg, NP_001018005.1:p.Lys268Thr, NP_001018005.1:p.Lys268Arg, NP_001317275.1:p.Lys232Thr, NP_001317275.1:p.Lys232Arg, NP_001352711.1:p.Lys232Thr, NP_001352711.1:p.Lys232Arg, NP_001352708.1:p.Lys268Thr, NP_001352708.1:p.Lys268Arg, XP_006720730.3:p.Lys268Thr, XP_006720730.3:p.Lys268Arg, XP_005254707.1:p.Lys232Thr, XP_005254707.1:p.Lys232Arg, XP_016878027.2:p.Lys268Thr, XP_016878027.2:p.Lys268Arg, XP_047288959.1:p.Lys268Thr, XP_047288959.1:p.Lys268Arg, XP_047288958.1:p.Lys268Thr, XP_047288958.1:p.Lys268Arg

                                      19.

                                      rs1382149754 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        15:63062216 (GRCh38)
                                        15:63354415 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:63062215:A:G
                                        Gene:
                                        TPM1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000015.10:g.63062216A>G, NC_000015.9:g.63354415A>G, NG_007557.1:g.24578A>G, NM_000366.6:c.641A>G, NM_000366.5:c.641A>G, NM_001365781.2:c.533A>G, NM_001365781.1:c.533A>G, NM_001330351.2:c.533A>G, NM_001330351.1:c.533A>G, NM_001018008.2:c.533A>G, NM_001018008.1:c.533A>G, NM_001018020.2:c.641A>G, NM_001018020.1:c.641A>G, NM_001018007.2:c.641A>G, NM_001018007.1:c.641A>G, NM_001018006.2:c.641A>G, NM_001018006.1:c.641A>G, NM_001018004.2:c.641A>G, NM_001018004.1:c.641A>G, NM_001330344.2:c.533A>G, NM_001330344.1:c.533A>G, NM_001301289.2:c.533A>G, NM_001301289.1:c.533A>G, NM_001301244.2:c.641A>G, NM_001301244.1:c.641A>G, NM_001018005.2:c.641A>G, NM_001018005.1:c.641A>G, NM_001330346.2:c.533A>G, NM_001330346.1:c.533A>G, NR_176341.1:n.800A>G, NR_176349.1:n.636A>G, NR_176353.1:n.620A>G, NR_176338.1:n.800A>G, NM_001407334.1:c.641A>G, NM_001407333.1:c.641A>G, NM_001407338.1:c.641A>G, NM_001407337.1:c.641A>G, NM_001407336.1:c.641A>G, NM_001365776.1:c.641A>G, NR_176352.1:n.696A>G, NM_001365782.1:c.533A>G, NR_176348.1:n.636A>G, NM_001407325.1:c.641A>G, NR_176351.1:n.696A>G, NM_001407341.1:c.533A>G, NM_001407340.1:c.533A>G, NR_176346.1:n.800A>G, NR_176344.1:n.926A>G, NR_176343.1:n.800A>G, NR_176342.1:n.800A>G, NM_001365778.1:c.767A>G, NR_176340.1:n.819A>G, NM_001407326.1:c.641A>G, NR_176337.1:n.800A>G, NR_176350.1:n.696A>G, NM_001407323.1:c.767A>G, NM_001407322.1:c.767A>G, NR_176345.1:n.800A>G, NM_001407335.1:c.641A>G, NM_001365779.1:c.641A>G, NM_001407331.1:c.641A>G, NM_001407329.1:c.641A>G, NR_176347.1:n.800A>G, NR_176339.1:n.895A>G, NM_001407324.1:c.767A>G, NM_001407328.1:c.641A>G, NM_001407327.1:c.641A>G, NM_001365777.1:c.641A>G, NM_001407344.1:c.533A>G, NM_001407342.1:c.533A>G, NM_001365780.1:c.533A>G, NM_001407332.1:c.641A>G, NM_001407330.1:c.641A>G, XM_006720667.5:c.641A>G, XM_005254639.5:c.641A>G, XM_005254650.4:c.533A>G, XM_017022539.3:c.641A>G, XM_005254646.3:c.533A>G, XM_017022538.3:c.641A>G, XM_047433004.1:c.641A>G, XM_047433003.1:c.641A>G, XM_047433001.1:c.641A>G, XM_047433000.1:c.641A>G, XM_047433005.1:c.533A>G, XM_047433002.1:c.641A>G, NP_000357.3:p.Tyr214Cys, NP_001352710.1:p.Tyr178Cys, NP_001317280.1:p.Tyr178Cys, NP_001018008.1:p.Tyr178Cys, NP_001018020.1:p.Tyr214Cys, NP_001018007.1:p.Tyr214Cys, NP_001018006.1:p.Tyr214Cys, NP_001018004.1:p.Tyr214Cys, NP_001317273.1:p.Tyr178Cys, NP_001288218.1:p.Tyr178Cys, NP_001288173.1:p.Tyr214Cys, NP_001018005.1:p.Tyr214Cys, NP_001317275.1:p.Tyr178Cys, NP_001352705.1:p.Tyr214Cys, NP_001352711.1:p.Tyr178Cys, NP_001352707.1:p.Tyr256Cys, NP_001352708.1:p.Tyr214Cys, NP_001352706.1:p.Tyr214Cys, NP_001352709.1:p.Tyr178Cys, XP_006720730.3:p.Tyr214Cys, XP_005254696.3:p.Tyr214Cys, XP_005254707.1:p.Tyr178Cys, XP_016878028.2:p.Tyr214Cys, XP_005254703.1:p.Tyr178Cys, XP_016878027.2:p.Tyr214Cys, XP_047288960.1:p.Tyr214Cys, XP_047288959.1:p.Tyr214Cys, XP_047288957.1:p.Tyr214Cys, XP_047288956.1:p.Tyr214Cys, XP_047288961.1:p.Tyr178Cys, XP_047288958.1:p.Tyr214Cys

                                        20.

                                        rs1376158377 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          GAA>- [Show Flanks]
                                          Chromosome:
                                          15:63061227 (GRCh38)
                                          15:63353426 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:63061224:AAGAA:AA
                                          Gene:
                                          TPM1 (Varview)
                                          Functional Consequence:
                                          intron_variant,inframe_deletion,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          -=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000015.10:g.63061227_63061229del, NC_000015.9:g.63353426_63353428del, NG_007557.1:g.23589_23591del, NM_000366.6:c.593_595del, NM_000366.5:c.593_595del, NM_001365781.2:c.485_487del, NM_001365781.1:c.485_487del, NM_001330351.2:c.485_487del, NM_001330351.1:c.485_487del, NM_001018020.2:c.593_595del, NM_001018020.1:c.593_595del, NM_001018006.2:c.593_595del, NM_001018006.1:c.593_595del, NM_001330344.2:c.485_487del, NM_001330344.1:c.485_487del, NR_176341.1:n.676_678del, NR_176349.1:n.512_514del, NR_176338.1:n.676_678del, NM_001407334.1:c.593_595del, NM_001407337.1:c.593_595del, NM_001407336.1:c.593_595del, NR_176352.1:n.572_574del, NR_176348.1:n.512_514del, NM_001407325.1:c.593_595del, NR_176351.1:n.572_574del, NM_001407340.1:c.485_487del, NR_176346.1:n.676_678del, NR_176344.1:n.802_804del, NR_176343.1:n.676_678del, NR_176342.1:n.676_678del, NR_176340.1:n.771_773del, NM_001407326.1:c.593_595del, NR_176337.1:n.676_678del, NR_176350.1:n.572_574del, NM_001407323.1:c.719_721del, NM_001407322.1:c.719_721del, NR_176345.1:n.676_678del, NM_001407335.1:c.593_595del, NM_001407331.1:c.593_595del, NM_001407329.1:c.593_595del, NR_176347.1:n.676_678del, NR_176339.1:n.771_773del, NM_001407327.1:c.593_595del, NM_001407344.1:c.485_487del, NM_001407342.1:c.485_487del, NM_001407330.1:c.593_595del, XM_006720667.5:c.593_595del, XM_005254639.5:c.593_595del, XM_005254650.4:c.485_487del, XM_017022539.3:c.593_595del, XM_005254646.3:c.485_487del, XM_017022538.3:c.593_595del, XM_047433004.1:c.593_595del, XM_047433003.1:c.593_595del, XM_047433001.1:c.593_595del, XM_047433005.1:c.485_487del, NP_000357.3:p.Arg198del, NP_001352710.1:p.Arg162del, NP_001317280.1:p.Arg162del, NP_001018020.1:p.Arg198del, NP_001018006.1:p.Arg198del, NP_001317273.1:p.Arg162del, XP_006720730.3:p.Arg198del, XP_005254696.3:p.Arg198del, XP_005254707.1:p.Arg162del, XP_016878028.2:p.Arg198del, XP_005254703.1:p.Arg162del, XP_016878027.2:p.Arg198del, XP_047288960.1:p.Arg198del, XP_047288959.1:p.Arg198del, XP_047288957.1:p.Arg198del, XP_047288961.1:p.Arg162del

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...