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 694

1.

rs1490178720 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    11:57811412 (GRCh38)
    11:57578884 (GRCh37)
    Canonical SPDI:
    NC_000011.10:57811411:A:G
    Gene:
    CTNND1 (Varview), TMX2-CTNND1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (GnomAD_exomes)
    G=0.000008/2 (TOPMED)
    HGVS:
    NC_000011.10:g.57811412A>G, NC_000011.9:g.57578884A>G, NG_029078.2:g.54612A>G, NG_029078.1:g.54651A>G, NM_001331.3:c.2546A>G, NM_001331.2:c.2546A>G, NM_001085458.2:c.2564A>G, NM_001085458.1:c.2564A>G, NM_001085459.2:c.2546A>G, NM_001085459.1:c.2546A>G, NM_001206885.2:c.2564A>G, NM_001206885.1:c.2564A>G, NM_001085461.2:c.2546A>G, NM_001085461.1:c.2546A>G, NM_001085460.2:c.2546A>G, NM_001085460.1:c.2546A>G, NM_001206891.2:c.2384A>G, NM_001206891.1:c.2384A>G, NM_001206889.2:c.2384A>G, NM_001206889.1:c.2384A>G, NM_001085462.2:c.2546A>G, NM_001085462.1:c.2546A>G, NM_001206883.2:c.2402A>G, NM_001206883.1:c.2402A>G, NM_001206886.2:c.2384A>G, NM_001206886.1:c.2384A>G, NM_001206887.2:c.2384A>G, NM_001206887.1:c.2384A>G, NM_001206884.2:c.2402A>G, NM_001206884.1:c.2402A>G, NM_001206888.2:c.2384A>G, NM_001206888.1:c.2384A>G, NM_001085463.2:c.2261A>G, NM_001085463.1:c.2261A>G, NM_001085464.2:c.2243A>G, NM_001085464.1:c.2243A>G, NM_001085467.2:c.2243A>G, NM_001085467.1:c.2243A>G, NM_001085465.2:c.2243A>G, NM_001085465.1:c.2243A>G, NM_001206890.2:c.2243A>G, NM_001206890.1:c.2243A>G, NM_001085466.2:c.2261A>G, NM_001085466.1:c.2261A>G, NM_001085468.2:c.2243A>G, NM_001085468.1:c.2243A>G, NM_001085469.2:c.2243A>G, NM_001085469.1:c.2243A>G, NR_037646.1:n.3123A>G, NP_001322.1:p.Asn849Ser, NP_001078927.1:p.Asn855Ser, NP_001078928.1:p.Asn849Ser, NP_001193814.1:p.Asn855Ser, NP_001078930.1:p.Asn849Ser, NP_001078929.1:p.Asn849Ser, NP_001193820.1:p.Asn795Ser, NP_001193818.1:p.Asn795Ser, NP_001078931.1:p.Asn849Ser, NP_001193812.1:p.Asn801Ser, NP_001193815.1:p.Asn795Ser, NP_001193816.1:p.Asn795Ser, NP_001193813.1:p.Asn801Ser, NP_001193817.1:p.Asn795Ser, NP_001078932.1:p.Asn754Ser, NP_001078933.1:p.Asn748Ser, NP_001078936.1:p.Asn748Ser, NP_001078934.1:p.Asn748Ser, NP_001193819.1:p.Asn748Ser, NP_001078935.1:p.Asn754Ser, NP_001078937.1:p.Asn748Ser, NP_001078938.1:p.Asn748Ser

    2.

    rs1489949285 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      11:57809432 (GRCh38)
      11:57576904 (GRCh37)
      Canonical SPDI:
      NC_000011.10:57809431:G:A,NC_000011.10:57809431:G:T
      Gene:
      CTNND1 (Varview), TMX2-CTNND1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by cluster
      MAF:
      T=0.00004/1 (TOMMO)
      HGVS:
      NC_000011.10:g.57809432G>A, NC_000011.10:g.57809432G>T, NC_000011.9:g.57576904G>A, NC_000011.9:g.57576904G>T, NG_029078.2:g.52632G>A, NG_029078.2:g.52632G>T, NG_029078.1:g.52671G>A, NG_029078.1:g.52671G>T, NM_001331.3:c.2383G>A, NM_001331.3:c.2383G>T, NM_001331.2:c.2383G>A, NM_001331.2:c.2383G>T, NM_001085458.2:c.2401G>A, NM_001085458.2:c.2401G>T, NM_001085458.1:c.2401G>A, NM_001085458.1:c.2401G>T, NM_001085459.2:c.2383G>A, NM_001085459.2:c.2383G>T, NM_001085459.1:c.2383G>A, NM_001085459.1:c.2383G>T, NM_001206885.2:c.2401G>A, NM_001206885.2:c.2401G>T, NM_001206885.1:c.2401G>A, NM_001206885.1:c.2401G>T, NM_001085461.2:c.2383G>A, NM_001085461.2:c.2383G>T, NM_001085461.1:c.2383G>A, NM_001085461.1:c.2383G>T, NM_001085460.2:c.2383G>A, NM_001085460.2:c.2383G>T, NM_001085460.1:c.2383G>A, NM_001085460.1:c.2383G>T, NM_001206891.2:c.2221G>A, NM_001206891.2:c.2221G>T, NM_001206891.1:c.2221G>A, NM_001206891.1:c.2221G>T, NM_001206889.2:c.2221G>A, NM_001206889.2:c.2221G>T, NM_001206889.1:c.2221G>A, NM_001206889.1:c.2221G>T, NM_001085462.2:c.2383G>A, NM_001085462.2:c.2383G>T, NM_001085462.1:c.2383G>A, NM_001085462.1:c.2383G>T, NM_001206883.2:c.2239G>A, NM_001206883.2:c.2239G>T, NM_001206883.1:c.2239G>A, NM_001206883.1:c.2239G>T, NM_001206886.2:c.2221G>A, NM_001206886.2:c.2221G>T, NM_001206886.1:c.2221G>A, NM_001206886.1:c.2221G>T, NM_001206887.2:c.2221G>A, NM_001206887.2:c.2221G>T, NM_001206887.1:c.2221G>A, NM_001206887.1:c.2221G>T, NM_001206884.2:c.2239G>A, NM_001206884.2:c.2239G>T, NM_001206884.1:c.2239G>A, NM_001206884.1:c.2239G>T, NM_001206888.2:c.2221G>A, NM_001206888.2:c.2221G>T, NM_001206888.1:c.2221G>A, NM_001206888.1:c.2221G>T, NM_001085463.2:c.2098G>A, NM_001085463.2:c.2098G>T, NM_001085463.1:c.2098G>A, NM_001085463.1:c.2098G>T, NM_001085464.2:c.2080G>A, NM_001085464.2:c.2080G>T, NM_001085464.1:c.2080G>A, NM_001085464.1:c.2080G>T, NM_001085467.2:c.2080G>A, NM_001085467.2:c.2080G>T, NM_001085467.1:c.2080G>A, NM_001085467.1:c.2080G>T, NM_001085465.2:c.2080G>A, NM_001085465.2:c.2080G>T, NM_001085465.1:c.2080G>A, NM_001085465.1:c.2080G>T, NM_001206890.2:c.2080G>A, NM_001206890.2:c.2080G>T, NM_001206890.1:c.2080G>A, NM_001206890.1:c.2080G>T, NM_001085466.2:c.2098G>A, NM_001085466.2:c.2098G>T, NM_001085466.1:c.2098G>A, NM_001085466.1:c.2098G>T, NM_001085468.2:c.2080G>A, NM_001085468.2:c.2080G>T, NM_001085468.1:c.2080G>A, NM_001085468.1:c.2080G>T, NM_001085469.2:c.2080G>A, NM_001085469.2:c.2080G>T, NM_001085469.1:c.2080G>A, NM_001085469.1:c.2080G>T, NR_037646.1:n.2960G>A, NR_037646.1:n.2960G>T, NP_001322.1:p.Gly795Ser, NP_001322.1:p.Gly795Cys, NP_001078927.1:p.Gly801Ser, NP_001078927.1:p.Gly801Cys, NP_001078928.1:p.Gly795Ser, NP_001078928.1:p.Gly795Cys, NP_001193814.1:p.Gly801Ser, NP_001193814.1:p.Gly801Cys, NP_001078930.1:p.Gly795Ser, NP_001078930.1:p.Gly795Cys, NP_001078929.1:p.Gly795Ser, NP_001078929.1:p.Gly795Cys, NP_001193820.1:p.Gly741Ser, NP_001193820.1:p.Gly741Cys, NP_001193818.1:p.Gly741Ser, NP_001193818.1:p.Gly741Cys, NP_001078931.1:p.Gly795Ser, NP_001078931.1:p.Gly795Cys, NP_001193812.1:p.Gly747Ser, NP_001193812.1:p.Gly747Cys, NP_001193815.1:p.Gly741Ser, NP_001193815.1:p.Gly741Cys, NP_001193816.1:p.Gly741Ser, NP_001193816.1:p.Gly741Cys, NP_001193813.1:p.Gly747Ser, NP_001193813.1:p.Gly747Cys, NP_001193817.1:p.Gly741Ser, NP_001193817.1:p.Gly741Cys, NP_001078932.1:p.Gly700Ser, NP_001078932.1:p.Gly700Cys, NP_001078933.1:p.Gly694Ser, NP_001078933.1:p.Gly694Cys, NP_001078936.1:p.Gly694Ser, NP_001078936.1:p.Gly694Cys, NP_001078934.1:p.Gly694Ser, NP_001078934.1:p.Gly694Cys, NP_001193819.1:p.Gly694Ser, NP_001193819.1:p.Gly694Cys, NP_001078935.1:p.Gly700Ser, NP_001078935.1:p.Gly700Cys, NP_001078937.1:p.Gly694Ser, NP_001078937.1:p.Gly694Cys, NP_001078938.1:p.Gly694Ser, NP_001078938.1:p.Gly694Cys

      3.

      rs1489747379 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        11:57809354 (GRCh38)
        11:57576826 (GRCh37)
        Canonical SPDI:
        NC_000011.10:57809353:G:T
        Gene:
        CTNND1 (Varview), TMX2-CTNND1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        T=0.000008/2 (GnomAD_exomes)
        HGVS:
        NC_000011.10:g.57809354G>T, NC_000011.9:g.57576826G>T, NG_029078.2:g.52554G>T, NG_029078.1:g.52593G>T, NM_001331.3:c.2305G>T, NM_001331.2:c.2305G>T, NM_001085458.2:c.2323G>T, NM_001085458.1:c.2323G>T, NM_001085459.2:c.2305G>T, NM_001085459.1:c.2305G>T, NM_001206885.2:c.2323G>T, NM_001206885.1:c.2323G>T, NM_001085461.2:c.2305G>T, NM_001085461.1:c.2305G>T, NM_001085460.2:c.2305G>T, NM_001085460.1:c.2305G>T, NM_001206891.2:c.2143G>T, NM_001206891.1:c.2143G>T, NM_001206889.2:c.2143G>T, NM_001206889.1:c.2143G>T, NM_001085462.2:c.2305G>T, NM_001085462.1:c.2305G>T, NM_001206883.2:c.2161G>T, NM_001206883.1:c.2161G>T, NM_001206886.2:c.2143G>T, NM_001206886.1:c.2143G>T, NM_001206887.2:c.2143G>T, NM_001206887.1:c.2143G>T, NM_001206884.2:c.2161G>T, NM_001206884.1:c.2161G>T, NM_001206888.2:c.2143G>T, NM_001206888.1:c.2143G>T, NM_001085463.2:c.2020G>T, NM_001085463.1:c.2020G>T, NM_001085464.2:c.2002G>T, NM_001085464.1:c.2002G>T, NM_001085467.2:c.2002G>T, NM_001085467.1:c.2002G>T, NM_001085465.2:c.2002G>T, NM_001085465.1:c.2002G>T, NM_001206890.2:c.2002G>T, NM_001206890.1:c.2002G>T, NM_001085466.2:c.2020G>T, NM_001085466.1:c.2020G>T, NM_001085468.2:c.2002G>T, NM_001085468.1:c.2002G>T, NM_001085469.2:c.2002G>T, NM_001085469.1:c.2002G>T, NR_037646.1:n.2882G>T, NP_001322.1:p.Val769Phe, NP_001078927.1:p.Val775Phe, NP_001078928.1:p.Val769Phe, NP_001193814.1:p.Val775Phe, NP_001078930.1:p.Val769Phe, NP_001078929.1:p.Val769Phe, NP_001193820.1:p.Val715Phe, NP_001193818.1:p.Val715Phe, NP_001078931.1:p.Val769Phe, NP_001193812.1:p.Val721Phe, NP_001193815.1:p.Val715Phe, NP_001193816.1:p.Val715Phe, NP_001193813.1:p.Val721Phe, NP_001193817.1:p.Val715Phe, NP_001078932.1:p.Val674Phe, NP_001078933.1:p.Val668Phe, NP_001078936.1:p.Val668Phe, NP_001078934.1:p.Val668Phe, NP_001193819.1:p.Val668Phe, NP_001078935.1:p.Val674Phe, NP_001078937.1:p.Val668Phe, NP_001078938.1:p.Val668Phe

        4.

        rs1488147238 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          11:57806927 (GRCh38)
          11:57574399 (GRCh37)
          Canonical SPDI:
          NC_000011.10:57806926:T:C
          Gene:
          CTNND1 (Varview), TMX2-CTNND1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000011.10:g.57806927T>C, NC_000011.9:g.57574399T>C, NG_029078.2:g.50127T>C, NG_029078.1:g.50166T>C, NM_001331.3:c.1889T>C, NM_001331.2:c.1889T>C, NM_001085458.2:c.1907T>C, NM_001085458.1:c.1907T>C, NM_001085459.2:c.1889T>C, NM_001085459.1:c.1889T>C, NM_001206885.2:c.1907T>C, NM_001206885.1:c.1907T>C, NM_001085461.2:c.1889T>C, NM_001085461.1:c.1889T>C, NM_001085460.2:c.1889T>C, NM_001085460.1:c.1889T>C, NM_001206891.2:c.1727T>C, NM_001206891.1:c.1727T>C, NM_001206889.2:c.1727T>C, NM_001206889.1:c.1727T>C, NM_001085462.2:c.1889T>C, NM_001085462.1:c.1889T>C, NM_001206883.2:c.1745T>C, NM_001206883.1:c.1745T>C, NM_001206886.2:c.1727T>C, NM_001206886.1:c.1727T>C, NM_001206887.2:c.1727T>C, NM_001206887.1:c.1727T>C, NM_001206884.2:c.1745T>C, NM_001206884.1:c.1745T>C, NM_001206888.2:c.1727T>C, NM_001206888.1:c.1727T>C, NM_001085463.2:c.1604T>C, NM_001085463.1:c.1604T>C, NM_001085464.2:c.1586T>C, NM_001085464.1:c.1586T>C, NM_001085467.2:c.1586T>C, NM_001085467.1:c.1586T>C, NM_001085465.2:c.1586T>C, NM_001085465.1:c.1586T>C, NM_001206890.2:c.1586T>C, NM_001206890.1:c.1586T>C, NM_001085466.2:c.1604T>C, NM_001085466.1:c.1604T>C, NM_001085468.2:c.1586T>C, NM_001085468.1:c.1586T>C, NM_001085469.2:c.1586T>C, NM_001085469.1:c.1586T>C, NR_037646.1:n.2466T>C, NP_001322.1:p.Ile630Thr, NP_001078927.1:p.Ile636Thr, NP_001078928.1:p.Ile630Thr, NP_001193814.1:p.Ile636Thr, NP_001078930.1:p.Ile630Thr, NP_001078929.1:p.Ile630Thr, NP_001193820.1:p.Ile576Thr, NP_001193818.1:p.Ile576Thr, NP_001078931.1:p.Ile630Thr, NP_001193812.1:p.Ile582Thr, NP_001193815.1:p.Ile576Thr, NP_001193816.1:p.Ile576Thr, NP_001193813.1:p.Ile582Thr, NP_001193817.1:p.Ile576Thr, NP_001078932.1:p.Ile535Thr, NP_001078933.1:p.Ile529Thr, NP_001078936.1:p.Ile529Thr, NP_001078934.1:p.Ile529Thr, NP_001193819.1:p.Ile529Thr, NP_001078935.1:p.Ile535Thr, NP_001078937.1:p.Ile529Thr, NP_001078938.1:p.Ile529Thr

          5.

          rs1488035484 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            11:57803707 (GRCh38)
            11:57571179 (GRCh37)
            Canonical SPDI:
            NC_000011.10:57803706:A:G
            Gene:
            CTNND1 (Varview), TMX2-CTNND1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,coding_sequence_variant
            HGVS:
            NC_000011.10:g.57803707A>G, NC_000011.9:g.57571179A>G, NG_029078.2:g.46907A>G, NG_029078.1:g.46946A>G, NM_001331.3:c.1507A>G, NM_001331.2:c.1507A>G, NM_001085458.2:c.1507A>G, NM_001085458.1:c.1507A>G, NM_001085459.2:c.1507A>G, NM_001085459.1:c.1507A>G, NM_001206885.2:c.1507A>G, NM_001206885.1:c.1507A>G, NM_001085461.2:c.1507A>G, NM_001085461.1:c.1507A>G, NM_001085460.2:c.1507A>G, NM_001085460.1:c.1507A>G, NM_001206891.2:c.1345A>G, NM_001206891.1:c.1345A>G, NM_001206889.2:c.1345A>G, NM_001206889.1:c.1345A>G, NM_001085462.2:c.1507A>G, NM_001085462.1:c.1507A>G, NM_001206883.2:c.1345A>G, NM_001206883.1:c.1345A>G, NM_001206886.2:c.1345A>G, NM_001206886.1:c.1345A>G, NM_001206887.2:c.1345A>G, NM_001206887.1:c.1345A>G, NM_001206884.2:c.1345A>G, NM_001206884.1:c.1345A>G, NM_001206888.2:c.1345A>G, NM_001206888.1:c.1345A>G, NM_001085463.2:c.1204A>G, NM_001085463.1:c.1204A>G, NM_001085464.2:c.1204A>G, NM_001085464.1:c.1204A>G, NM_001085467.2:c.1204A>G, NM_001085467.1:c.1204A>G, NM_001085465.2:c.1204A>G, NM_001085465.1:c.1204A>G, NM_001206890.2:c.1204A>G, NM_001206890.1:c.1204A>G, NM_001085466.2:c.1204A>G, NM_001085466.1:c.1204A>G, NM_001085468.2:c.1204A>G, NM_001085468.1:c.1204A>G, NM_001085469.2:c.1204A>G, NM_001085469.1:c.1204A>G, NR_037646.1:n.2066A>G, NP_001322.1:p.Ile503Val, NP_001078927.1:p.Ile503Val, NP_001078928.1:p.Ile503Val, NP_001193814.1:p.Ile503Val, NP_001078930.1:p.Ile503Val, NP_001078929.1:p.Ile503Val, NP_001193820.1:p.Ile449Val, NP_001193818.1:p.Ile449Val, NP_001078931.1:p.Ile503Val, NP_001193812.1:p.Ile449Val, NP_001193815.1:p.Ile449Val, NP_001193816.1:p.Ile449Val, NP_001193813.1:p.Ile449Val, NP_001193817.1:p.Ile449Val, NP_001078932.1:p.Ile402Val, NP_001078933.1:p.Ile402Val, NP_001078936.1:p.Ile402Val, NP_001078934.1:p.Ile402Val, NP_001193819.1:p.Ile402Val, NP_001078935.1:p.Ile402Val, NP_001078937.1:p.Ile402Val, NP_001078938.1:p.Ile402Val

            6.

            rs1486500759 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              11:57805910 (GRCh38)
              11:57573382 (GRCh37)
              Canonical SPDI:
              NC_000011.10:57805909:G:A
              Gene:
              CTNND1 (Varview), TMX2-CTNND1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000011.10:g.57805910G>A, NC_000011.9:g.57573382G>A, NG_029078.2:g.49110G>A, NG_029078.1:g.49149G>A, NM_001331.3:c.1751G>A, NM_001331.2:c.1751G>A, NM_001085458.2:c.1751G>A, NM_001085458.1:c.1751G>A, NM_001085459.2:c.1751G>A, NM_001085459.1:c.1751G>A, NM_001206885.2:c.1751G>A, NM_001206885.1:c.1751G>A, NM_001085461.2:c.1751G>A, NM_001085461.1:c.1751G>A, NM_001085460.2:c.1751G>A, NM_001085460.1:c.1751G>A, NM_001206891.2:c.1589G>A, NM_001206891.1:c.1589G>A, NM_001206889.2:c.1589G>A, NM_001206889.1:c.1589G>A, NM_001085462.2:c.1751G>A, NM_001085462.1:c.1751G>A, NM_001206883.2:c.1589G>A, NM_001206883.1:c.1589G>A, NM_001206886.2:c.1589G>A, NM_001206886.1:c.1589G>A, NM_001206887.2:c.1589G>A, NM_001206887.1:c.1589G>A, NM_001206884.2:c.1589G>A, NM_001206884.1:c.1589G>A, NM_001206888.2:c.1589G>A, NM_001206888.1:c.1589G>A, NM_001085463.2:c.1448G>A, NM_001085463.1:c.1448G>A, NM_001085464.2:c.1448G>A, NM_001085464.1:c.1448G>A, NM_001085467.2:c.1448G>A, NM_001085467.1:c.1448G>A, NM_001085465.2:c.1448G>A, NM_001085465.1:c.1448G>A, NM_001206890.2:c.1448G>A, NM_001206890.1:c.1448G>A, NM_001085466.2:c.1448G>A, NM_001085466.1:c.1448G>A, NM_001085468.2:c.1448G>A, NM_001085468.1:c.1448G>A, NM_001085469.2:c.1448G>A, NM_001085469.1:c.1448G>A, NR_037646.1:n.2310G>A, NP_001322.1:p.Arg584Gln, NP_001078927.1:p.Arg584Gln, NP_001078928.1:p.Arg584Gln, NP_001193814.1:p.Arg584Gln, NP_001078930.1:p.Arg584Gln, NP_001078929.1:p.Arg584Gln, NP_001193820.1:p.Arg530Gln, NP_001193818.1:p.Arg530Gln, NP_001078931.1:p.Arg584Gln, NP_001193812.1:p.Arg530Gln, NP_001193815.1:p.Arg530Gln, NP_001193816.1:p.Arg530Gln, NP_001193813.1:p.Arg530Gln, NP_001193817.1:p.Arg530Gln, NP_001078932.1:p.Arg483Gln, NP_001078933.1:p.Arg483Gln, NP_001078936.1:p.Arg483Gln, NP_001078934.1:p.Arg483Gln, NP_001193819.1:p.Arg483Gln, NP_001078935.1:p.Arg483Gln, NP_001078937.1:p.Arg483Gln, NP_001078938.1:p.Arg483Gln

              7.

              rs1486406646 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                11:57801946 (GRCh38)
                11:57569418 (GRCh37)
                Canonical SPDI:
                NC_000011.10:57801945:G:A,NC_000011.10:57801945:G:C
                Gene:
                CTNND1 (Varview), TMX2-CTNND1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by cluster
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                C=0.000035/1 (TOMMO)
                HGVS:
                NC_000011.10:g.57801946G>A, NC_000011.10:g.57801946G>C, NC_000011.9:g.57569418G>A, NC_000011.9:g.57569418G>C, NG_029078.2:g.45146G>A, NG_029078.2:g.45146G>C, NG_029078.1:g.45185G>A, NG_029078.1:g.45185G>C, NM_001331.3:c.1170G>A, NM_001331.3:c.1170G>C, NM_001331.2:c.1170G>A, NM_001331.2:c.1170G>C, NM_001085458.2:c.1170G>A, NM_001085458.2:c.1170G>C, NM_001085458.1:c.1170G>A, NM_001085458.1:c.1170G>C, NM_001085459.2:c.1170G>A, NM_001085459.2:c.1170G>C, NM_001085459.1:c.1170G>A, NM_001085459.1:c.1170G>C, NM_001206885.2:c.1170G>A, NM_001206885.2:c.1170G>C, NM_001206885.1:c.1170G>A, NM_001206885.1:c.1170G>C, NM_001085461.2:c.1170G>A, NM_001085461.2:c.1170G>C, NM_001085461.1:c.1170G>A, NM_001085461.1:c.1170G>C, NM_001085460.2:c.1170G>A, NM_001085460.2:c.1170G>C, NM_001085460.1:c.1170G>A, NM_001085460.1:c.1170G>C, NM_001206891.2:c.1008G>A, NM_001206891.2:c.1008G>C, NM_001206891.1:c.1008G>A, NM_001206891.1:c.1008G>C, NM_001206889.2:c.1008G>A, NM_001206889.2:c.1008G>C, NM_001206889.1:c.1008G>A, NM_001206889.1:c.1008G>C, NM_001085462.2:c.1170G>A, NM_001085462.2:c.1170G>C, NM_001085462.1:c.1170G>A, NM_001085462.1:c.1170G>C, NM_001206883.2:c.1008G>A, NM_001206883.2:c.1008G>C, NM_001206883.1:c.1008G>A, NM_001206883.1:c.1008G>C, NM_001206886.2:c.1008G>A, NM_001206886.2:c.1008G>C, NM_001206886.1:c.1008G>A, NM_001206886.1:c.1008G>C, NM_001206887.2:c.1008G>A, NM_001206887.2:c.1008G>C, NM_001206887.1:c.1008G>A, NM_001206887.1:c.1008G>C, NM_001206884.2:c.1008G>A, NM_001206884.2:c.1008G>C, NM_001206884.1:c.1008G>A, NM_001206884.1:c.1008G>C, NM_001206888.2:c.1008G>A, NM_001206888.2:c.1008G>C, NM_001206888.1:c.1008G>A, NM_001206888.1:c.1008G>C, NM_001085463.2:c.867G>A, NM_001085463.2:c.867G>C, NM_001085463.1:c.867G>A, NM_001085463.1:c.867G>C, NM_001085464.2:c.867G>A, NM_001085464.2:c.867G>C, NM_001085464.1:c.867G>A, NM_001085464.1:c.867G>C, NM_001085467.2:c.867G>A, NM_001085467.2:c.867G>C, NM_001085467.1:c.867G>A, NM_001085467.1:c.867G>C, NM_001085465.2:c.867G>A, NM_001085465.2:c.867G>C, NM_001085465.1:c.867G>A, NM_001085465.1:c.867G>C, NM_001206890.2:c.867G>A, NM_001206890.2:c.867G>C, NM_001206890.1:c.867G>A, NM_001206890.1:c.867G>C, NM_001085466.2:c.867G>A, NM_001085466.2:c.867G>C, NM_001085466.1:c.867G>A, NM_001085466.1:c.867G>C, NM_001085468.2:c.867G>A, NM_001085468.2:c.867G>C, NM_001085468.1:c.867G>A, NM_001085468.1:c.867G>C, NM_001085469.2:c.867G>A, NM_001085469.2:c.867G>C, NM_001085469.1:c.867G>A, NM_001085469.1:c.867G>C, NR_037646.1:n.1729G>A, NR_037646.1:n.1729G>C

                8.

                rs1484440945 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  11:57796567 (GRCh38)
                  11:57564039 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:57796566:T:A
                  Gene:
                  CTNND1 (Varview), TMX2-CTNND1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000011.10:g.57796567T>A, NC_000011.9:g.57564039T>A, NG_029078.2:g.39767T>A, NG_029078.1:g.39806T>A, NM_001331.3:c.531T>A, NM_001331.2:c.531T>A, NM_001085458.2:c.531T>A, NM_001085458.1:c.531T>A, NM_001085459.2:c.531T>A, NM_001085459.1:c.531T>A, NM_001206885.2:c.531T>A, NM_001206885.1:c.531T>A, NM_001085461.2:c.531T>A, NM_001085461.1:c.531T>A, NM_001085460.2:c.531T>A, NM_001085460.1:c.531T>A, NM_001206891.2:c.369T>A, NM_001206891.1:c.369T>A, NM_001206889.2:c.369T>A, NM_001206889.1:c.369T>A, NM_001085462.2:c.531T>A, NM_001085462.1:c.531T>A, NM_001206883.2:c.369T>A, NM_001206883.1:c.369T>A, NM_001206886.2:c.369T>A, NM_001206886.1:c.369T>A, NM_001206887.2:c.369T>A, NM_001206887.1:c.369T>A, NM_001206884.2:c.369T>A, NM_001206884.1:c.369T>A, NM_001206888.2:c.369T>A, NM_001206888.1:c.369T>A, NM_001085463.2:c.228T>A, NM_001085463.1:c.228T>A, NM_001085464.2:c.228T>A, NM_001085464.1:c.228T>A, NM_001085467.2:c.228T>A, NM_001085467.1:c.228T>A, NM_001085465.2:c.228T>A, NM_001085465.1:c.228T>A, NM_001206890.2:c.228T>A, NM_001206890.1:c.228T>A, NM_001085466.2:c.228T>A, NM_001085466.1:c.228T>A, NM_001085468.2:c.228T>A, NM_001085468.1:c.228T>A, NM_001085469.2:c.228T>A, NM_001085469.1:c.228T>A, NR_037646.1:n.1090T>A

                  9.

                  rs1482158526 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    11:57805990 (GRCh38)
                    11:57573462 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:57805989:A:G
                    Gene:
                    CTNND1 (Varview), TMX2-CTNND1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,non_coding_transcript_variant
                    HGVS:
                    NC_000011.10:g.57805990A>G, NC_000011.9:g.57573462A>G, NG_029078.2:g.49190A>G, NG_029078.1:g.49229A>G, NM_001331.3:c.1831A>G, NM_001331.2:c.1831A>G, NM_001085458.2:c.1831A>G, NM_001085458.1:c.1831A>G, NM_001085459.2:c.1831A>G, NM_001085459.1:c.1831A>G, NM_001206885.2:c.1831A>G, NM_001206885.1:c.1831A>G, NM_001085461.2:c.1831A>G, NM_001085461.1:c.1831A>G, NM_001085460.2:c.1831A>G, NM_001085460.1:c.1831A>G, NM_001206891.2:c.1669A>G, NM_001206891.1:c.1669A>G, NM_001206889.2:c.1669A>G, NM_001206889.1:c.1669A>G, NM_001085462.2:c.1831A>G, NM_001085462.1:c.1831A>G, NM_001206883.2:c.1669A>G, NM_001206883.1:c.1669A>G, NM_001206886.2:c.1669A>G, NM_001206886.1:c.1669A>G, NM_001206887.2:c.1669A>G, NM_001206887.1:c.1669A>G, NM_001206884.2:c.1669A>G, NM_001206884.1:c.1669A>G, NM_001206888.2:c.1669A>G, NM_001206888.1:c.1669A>G, NM_001085463.2:c.1528A>G, NM_001085463.1:c.1528A>G, NM_001085464.2:c.1528A>G, NM_001085464.1:c.1528A>G, NM_001085467.2:c.1528A>G, NM_001085467.1:c.1528A>G, NM_001085465.2:c.1528A>G, NM_001085465.1:c.1528A>G, NM_001206890.2:c.1528A>G, NM_001206890.1:c.1528A>G, NM_001085466.2:c.1528A>G, NM_001085466.1:c.1528A>G, NM_001085468.2:c.1528A>G, NM_001085468.1:c.1528A>G, NM_001085469.2:c.1528A>G, NM_001085469.1:c.1528A>G, NR_037646.1:n.2390A>G, NP_001322.1:p.Thr611Ala, NP_001078927.1:p.Thr611Ala, NP_001078928.1:p.Thr611Ala, NP_001193814.1:p.Thr611Ala, NP_001078930.1:p.Thr611Ala, NP_001078929.1:p.Thr611Ala, NP_001193820.1:p.Thr557Ala, NP_001193818.1:p.Thr557Ala, NP_001078931.1:p.Thr611Ala, NP_001193812.1:p.Thr557Ala, NP_001193815.1:p.Thr557Ala, NP_001193816.1:p.Thr557Ala, NP_001193813.1:p.Thr557Ala, NP_001193817.1:p.Thr557Ala, NP_001078932.1:p.Thr510Ala, NP_001078933.1:p.Thr510Ala, NP_001078936.1:p.Thr510Ala, NP_001078934.1:p.Thr510Ala, NP_001193819.1:p.Thr510Ala, NP_001078935.1:p.Thr510Ala, NP_001078937.1:p.Thr510Ala, NP_001078938.1:p.Thr510Ala

                    10.

                    rs1482001153 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      11:57796951 (GRCh38)
                      11:57564423 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:57796950:C:A
                      Gene:
                      CTNND1 (Varview), TMX2-CTNND1 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000011.10:g.57796951C>A, NC_000011.9:g.57564423C>A, NG_029078.2:g.40151C>A, NG_029078.1:g.40190C>A, NM_001331.3:c.915C>A, NM_001331.2:c.915C>A, NM_001085458.2:c.915C>A, NM_001085458.1:c.915C>A, NM_001085459.2:c.915C>A, NM_001085459.1:c.915C>A, NM_001206885.2:c.915C>A, NM_001206885.1:c.915C>A, NM_001085461.2:c.915C>A, NM_001085461.1:c.915C>A, NM_001085460.2:c.915C>A, NM_001085460.1:c.915C>A, NM_001206891.2:c.753C>A, NM_001206891.1:c.753C>A, NM_001206889.2:c.753C>A, NM_001206889.1:c.753C>A, NM_001085462.2:c.915C>A, NM_001085462.1:c.915C>A, NM_001206883.2:c.753C>A, NM_001206883.1:c.753C>A, NM_001206886.2:c.753C>A, NM_001206886.1:c.753C>A, NM_001206887.2:c.753C>A, NM_001206887.1:c.753C>A, NM_001206884.2:c.753C>A, NM_001206884.1:c.753C>A, NM_001206888.2:c.753C>A, NM_001206888.1:c.753C>A, NM_001085463.2:c.612C>A, NM_001085463.1:c.612C>A, NM_001085464.2:c.612C>A, NM_001085464.1:c.612C>A, NM_001085467.2:c.612C>A, NM_001085467.1:c.612C>A, NM_001085465.2:c.612C>A, NM_001085465.1:c.612C>A, NM_001206890.2:c.612C>A, NM_001206890.1:c.612C>A, NM_001085466.2:c.612C>A, NM_001085466.1:c.612C>A, NM_001085468.2:c.612C>A, NM_001085468.1:c.612C>A, NM_001085469.2:c.612C>A, NM_001085469.1:c.612C>A, NR_037646.1:n.1474C>A

                      11.

                      rs1480673239 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        11:57801799 (GRCh38)
                        11:57569271 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:57801798:G:A
                        Gene:
                        CTNND1 (Varview), TMX2-CTNND1 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000011.10:g.57801799G>A, NC_000011.9:g.57569271G>A, NG_029078.2:g.44999G>A, NG_029078.1:g.45038G>A, NM_001331.3:c.1023G>A, NM_001331.2:c.1023G>A, NM_001085458.2:c.1023G>A, NM_001085458.1:c.1023G>A, NM_001085459.2:c.1023G>A, NM_001085459.1:c.1023G>A, NM_001206885.2:c.1023G>A, NM_001206885.1:c.1023G>A, NM_001085461.2:c.1023G>A, NM_001085461.1:c.1023G>A, NM_001085460.2:c.1023G>A, NM_001085460.1:c.1023G>A, NM_001206891.2:c.861G>A, NM_001206891.1:c.861G>A, NM_001206889.2:c.861G>A, NM_001206889.1:c.861G>A, NM_001085462.2:c.1023G>A, NM_001085462.1:c.1023G>A, NM_001206883.2:c.861G>A, NM_001206883.1:c.861G>A, NM_001206886.2:c.861G>A, NM_001206886.1:c.861G>A, NM_001206887.2:c.861G>A, NM_001206887.1:c.861G>A, NM_001206884.2:c.861G>A, NM_001206884.1:c.861G>A, NM_001206888.2:c.861G>A, NM_001206888.1:c.861G>A, NM_001085463.2:c.720G>A, NM_001085463.1:c.720G>A, NM_001085464.2:c.720G>A, NM_001085464.1:c.720G>A, NM_001085467.2:c.720G>A, NM_001085467.1:c.720G>A, NM_001085465.2:c.720G>A, NM_001085465.1:c.720G>A, NM_001206890.2:c.720G>A, NM_001206890.1:c.720G>A, NM_001085466.2:c.720G>A, NM_001085466.1:c.720G>A, NM_001085468.2:c.720G>A, NM_001085468.1:c.720G>A, NM_001085469.2:c.720G>A, NM_001085469.1:c.720G>A, NR_037646.1:n.1582G>A

                        12.

                        rs1480247990 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          11:57810139 (GRCh38)
                          11:57577611 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:57810138:A:C
                          Gene:
                          CTNND1 (Varview), TMX2-CTNND1 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000671/3 (ALFA)
                          C=0.000007/1 (GnomAD)
                          C=0.00067/3 (Estonian)
                          HGVS:
                          NC_000011.10:g.57810139A>C, NC_000011.9:g.57577611A>C, NG_029078.2:g.53339A>C, NG_029078.1:g.53378A>C, NM_001331.3:c.2448A>C, NM_001331.2:c.2448A>C, NM_001085458.2:c.2466A>C, NM_001085458.1:c.2466A>C, NM_001085459.2:c.2448A>C, NM_001085459.1:c.2448A>C, NM_001206885.2:c.2466A>C, NM_001206885.1:c.2466A>C, NM_001085461.2:c.2448A>C, NM_001085461.1:c.2448A>C, NM_001085460.2:c.2448A>C, NM_001085460.1:c.2448A>C, NM_001206891.2:c.2286A>C, NM_001206891.1:c.2286A>C, NM_001206889.2:c.2286A>C, NM_001206889.1:c.2286A>C, NM_001085462.2:c.2448A>C, NM_001085462.1:c.2448A>C, NM_001206883.2:c.2304A>C, NM_001206883.1:c.2304A>C, NM_001206886.2:c.2286A>C, NM_001206886.1:c.2286A>C, NM_001206887.2:c.2286A>C, NM_001206887.1:c.2286A>C, NM_001206884.2:c.2304A>C, NM_001206884.1:c.2304A>C, NM_001206888.2:c.2286A>C, NM_001206888.1:c.2286A>C, NM_001085463.2:c.2163A>C, NM_001085463.1:c.2163A>C, NM_001085464.2:c.2145A>C, NM_001085464.1:c.2145A>C, NM_001085467.2:c.2145A>C, NM_001085467.1:c.2145A>C, NM_001085465.2:c.2145A>C, NM_001085465.1:c.2145A>C, NM_001206890.2:c.2145A>C, NM_001206890.1:c.2145A>C, NM_001085466.2:c.2163A>C, NM_001085466.1:c.2163A>C, NM_001085468.2:c.2145A>C, NM_001085468.1:c.2145A>C, NM_001085469.2:c.2145A>C, NM_001085469.1:c.2145A>C, NR_037646.1:n.3025A>C

                          13.

                          rs1478575916 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            11:57796810 (GRCh38)
                            11:57564282 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:57796809:G:A
                            Gene:
                            CTNND1 (Varview), TMX2-CTNND1 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000011.10:g.57796810G>A, NC_000011.9:g.57564282G>A, NG_029078.2:g.40010G>A, NG_029078.1:g.40049G>A, NM_001331.3:c.774G>A, NM_001331.2:c.774G>A, NM_001085458.2:c.774G>A, NM_001085458.1:c.774G>A, NM_001085459.2:c.774G>A, NM_001085459.1:c.774G>A, NM_001206885.2:c.774G>A, NM_001206885.1:c.774G>A, NM_001085461.2:c.774G>A, NM_001085461.1:c.774G>A, NM_001085460.2:c.774G>A, NM_001085460.1:c.774G>A, NM_001206891.2:c.612G>A, NM_001206891.1:c.612G>A, NM_001206889.2:c.612G>A, NM_001206889.1:c.612G>A, NM_001085462.2:c.774G>A, NM_001085462.1:c.774G>A, NM_001206883.2:c.612G>A, NM_001206883.1:c.612G>A, NM_001206886.2:c.612G>A, NM_001206886.1:c.612G>A, NM_001206887.2:c.612G>A, NM_001206887.1:c.612G>A, NM_001206884.2:c.612G>A, NM_001206884.1:c.612G>A, NM_001206888.2:c.612G>A, NM_001206888.1:c.612G>A, NM_001085463.2:c.471G>A, NM_001085463.1:c.471G>A, NM_001085464.2:c.471G>A, NM_001085464.1:c.471G>A, NM_001085467.2:c.471G>A, NM_001085467.1:c.471G>A, NM_001085465.2:c.471G>A, NM_001085465.1:c.471G>A, NM_001206890.2:c.471G>A, NM_001206890.1:c.471G>A, NM_001085466.2:c.471G>A, NM_001085466.1:c.471G>A, NM_001085468.2:c.471G>A, NM_001085468.1:c.471G>A, NM_001085469.2:c.471G>A, NM_001085469.1:c.471G>A, NR_037646.1:n.1333G>A

                            14.

                            rs1475157781 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              11:57796781 (GRCh38)
                              11:57564253 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:57796780:C:T
                              Gene:
                              CTNND1 (Varview), TMX2-CTNND1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000008/2 (TOPMED)
                              T=0.000012/3 (GnomAD_exomes)
                              HGVS:
                              NC_000011.10:g.57796781C>T, NC_000011.9:g.57564253C>T, NG_029078.2:g.39981C>T, NG_029078.1:g.40020C>T, NM_001331.3:c.745C>T, NM_001331.2:c.745C>T, NM_001085458.2:c.745C>T, NM_001085458.1:c.745C>T, NM_001085459.2:c.745C>T, NM_001085459.1:c.745C>T, NM_001206885.2:c.745C>T, NM_001206885.1:c.745C>T, NM_001085461.2:c.745C>T, NM_001085461.1:c.745C>T, NM_001085460.2:c.745C>T, NM_001085460.1:c.745C>T, NM_001206891.2:c.583C>T, NM_001206891.1:c.583C>T, NM_001206889.2:c.583C>T, NM_001206889.1:c.583C>T, NM_001085462.2:c.745C>T, NM_001085462.1:c.745C>T, NM_001206883.2:c.583C>T, NM_001206883.1:c.583C>T, NM_001206886.2:c.583C>T, NM_001206886.1:c.583C>T, NM_001206887.2:c.583C>T, NM_001206887.1:c.583C>T, NM_001206884.2:c.583C>T, NM_001206884.1:c.583C>T, NM_001206888.2:c.583C>T, NM_001206888.1:c.583C>T, NM_001085463.2:c.442C>T, NM_001085463.1:c.442C>T, NM_001085464.2:c.442C>T, NM_001085464.1:c.442C>T, NM_001085467.2:c.442C>T, NM_001085467.1:c.442C>T, NM_001085465.2:c.442C>T, NM_001085465.1:c.442C>T, NM_001206890.2:c.442C>T, NM_001206890.1:c.442C>T, NM_001085466.2:c.442C>T, NM_001085466.1:c.442C>T, NM_001085468.2:c.442C>T, NM_001085468.1:c.442C>T, NM_001085469.2:c.442C>T, NM_001085469.1:c.442C>T, NR_037646.1:n.1304C>T, NP_001322.1:p.Arg249Trp, NP_001078927.1:p.Arg249Trp, NP_001078928.1:p.Arg249Trp, NP_001193814.1:p.Arg249Trp, NP_001078930.1:p.Arg249Trp, NP_001078929.1:p.Arg249Trp, NP_001193820.1:p.Arg195Trp, NP_001193818.1:p.Arg195Trp, NP_001078931.1:p.Arg249Trp, NP_001193812.1:p.Arg195Trp, NP_001193815.1:p.Arg195Trp, NP_001193816.1:p.Arg195Trp, NP_001193813.1:p.Arg195Trp, NP_001193817.1:p.Arg195Trp, NP_001078932.1:p.Arg148Trp, NP_001078933.1:p.Arg148Trp, NP_001078936.1:p.Arg148Trp, NP_001078934.1:p.Arg148Trp, NP_001193819.1:p.Arg148Trp, NP_001078935.1:p.Arg148Trp, NP_001078937.1:p.Arg148Trp, NP_001078938.1:p.Arg148Trp

                              15.

                              rs1474868287 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                11:57809443 (GRCh38)
                                11:57576915 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:57809442:G:A
                                Gene:
                                CTNND1 (Varview), TMX2-CTNND1 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                Clinical significance:
                                likely-benign
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000043/1 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                A=0.000008/2 (TOPMED)
                                A=0.000021/3 (GnomAD)
                                HGVS:
                                NC_000011.10:g.57809443G>A, NC_000011.9:g.57576915G>A, NG_029078.2:g.52643G>A, NG_029078.1:g.52682G>A, NM_001331.3:c.2394G>A, NM_001331.2:c.2394G>A, NM_001085458.2:c.2412G>A, NM_001085458.1:c.2412G>A, NM_001085459.2:c.2394G>A, NM_001085459.1:c.2394G>A, NM_001206885.2:c.2412G>A, NM_001206885.1:c.2412G>A, NM_001085461.2:c.2394G>A, NM_001085461.1:c.2394G>A, NM_001085460.2:c.2394G>A, NM_001085460.1:c.2394G>A, NM_001206891.2:c.2232G>A, NM_001206891.1:c.2232G>A, NM_001206889.2:c.2232G>A, NM_001206889.1:c.2232G>A, NM_001085462.2:c.2394G>A, NM_001085462.1:c.2394G>A, NM_001206883.2:c.2250G>A, NM_001206883.1:c.2250G>A, NM_001206886.2:c.2232G>A, NM_001206886.1:c.2232G>A, NM_001206887.2:c.2232G>A, NM_001206887.1:c.2232G>A, NM_001206884.2:c.2250G>A, NM_001206884.1:c.2250G>A, NM_001206888.2:c.2232G>A, NM_001206888.1:c.2232G>A, NM_001085463.2:c.2109G>A, NM_001085463.1:c.2109G>A, NM_001085464.2:c.2091G>A, NM_001085464.1:c.2091G>A, NM_001085467.2:c.2091G>A, NM_001085467.1:c.2091G>A, NM_001085465.2:c.2091G>A, NM_001085465.1:c.2091G>A, NM_001206890.2:c.2091G>A, NM_001206890.1:c.2091G>A, NM_001085466.2:c.2109G>A, NM_001085466.1:c.2109G>A, NM_001085468.2:c.2091G>A, NM_001085468.1:c.2091G>A, NM_001085469.2:c.2091G>A, NM_001085469.1:c.2091G>A, NR_037646.1:n.2971G>A

                                16.

                                rs1474171022 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  11:57796491 (GRCh38)
                                  11:57563963 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:57796490:C:A
                                  Gene:
                                  CTNND1 (Varview), TMX2-CTNND1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000011.10:g.57796491C>A, NC_000011.9:g.57563963C>A, NG_029078.2:g.39691C>A, NG_029078.1:g.39730C>A, NM_001331.3:c.455C>A, NM_001331.2:c.455C>A, NM_001085458.2:c.455C>A, NM_001085458.1:c.455C>A, NM_001085459.2:c.455C>A, NM_001085459.1:c.455C>A, NM_001206885.2:c.455C>A, NM_001206885.1:c.455C>A, NM_001085461.2:c.455C>A, NM_001085461.1:c.455C>A, NM_001085460.2:c.455C>A, NM_001085460.1:c.455C>A, NM_001206891.2:c.293C>A, NM_001206891.1:c.293C>A, NM_001206889.2:c.293C>A, NM_001206889.1:c.293C>A, NM_001085462.2:c.455C>A, NM_001085462.1:c.455C>A, NM_001206883.2:c.293C>A, NM_001206883.1:c.293C>A, NM_001206886.2:c.293C>A, NM_001206886.1:c.293C>A, NM_001206887.2:c.293C>A, NM_001206887.1:c.293C>A, NM_001206884.2:c.293C>A, NM_001206884.1:c.293C>A, NM_001206888.2:c.293C>A, NM_001206888.1:c.293C>A, NM_001085463.2:c.152C>A, NM_001085463.1:c.152C>A, NM_001085464.2:c.152C>A, NM_001085464.1:c.152C>A, NM_001085467.2:c.152C>A, NM_001085467.1:c.152C>A, NM_001085465.2:c.152C>A, NM_001085465.1:c.152C>A, NM_001206890.2:c.152C>A, NM_001206890.1:c.152C>A, NM_001085466.2:c.152C>A, NM_001085466.1:c.152C>A, NM_001085468.2:c.152C>A, NM_001085468.1:c.152C>A, NM_001085469.2:c.152C>A, NM_001085469.1:c.152C>A, NR_037646.1:n.1014C>A, NP_001322.1:p.Thr152Lys, NP_001078927.1:p.Thr152Lys, NP_001078928.1:p.Thr152Lys, NP_001193814.1:p.Thr152Lys, NP_001078930.1:p.Thr152Lys, NP_001078929.1:p.Thr152Lys, NP_001193820.1:p.Thr98Lys, NP_001193818.1:p.Thr98Lys, NP_001078931.1:p.Thr152Lys, NP_001193812.1:p.Thr98Lys, NP_001193815.1:p.Thr98Lys, NP_001193816.1:p.Thr98Lys, NP_001193813.1:p.Thr98Lys, NP_001193817.1:p.Thr98Lys, NP_001078932.1:p.Thr51Lys, NP_001078933.1:p.Thr51Lys, NP_001078936.1:p.Thr51Lys, NP_001078934.1:p.Thr51Lys, NP_001193819.1:p.Thr51Lys, NP_001078935.1:p.Thr51Lys, NP_001078937.1:p.Thr51Lys, NP_001078938.1:p.Thr51Lys

                                  17.

                                  rs1468368154 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    11:57795687 (GRCh38)
                                    11:57563159 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:57795686:G:A
                                    Gene:
                                    CTNND1 (Varview), TMX2-CTNND1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                    HGVS:
                                    NC_000011.10:g.57795687G>A, NC_000011.9:g.57563159G>A, NG_029078.2:g.38887G>A, NG_029078.1:g.38926G>A, NM_001331.3:c.378G>A, NM_001331.2:c.378G>A, NM_001085458.2:c.378G>A, NM_001085458.1:c.378G>A, NM_001085459.2:c.378G>A, NM_001085459.1:c.378G>A, NM_001206885.2:c.378G>A, NM_001206885.1:c.378G>A, NM_001085461.2:c.378G>A, NM_001085461.1:c.378G>A, NM_001085460.2:c.378G>A, NM_001085460.1:c.378G>A, NM_001206891.2:c.216G>A, NM_001206891.1:c.216G>A, NM_001206889.2:c.216G>A, NM_001206889.1:c.216G>A, NM_001085462.2:c.378G>A, NM_001085462.1:c.378G>A, NM_001206883.2:c.216G>A, NM_001206883.1:c.216G>A, NM_001206886.2:c.216G>A, NM_001206886.1:c.216G>A, NM_001206887.2:c.216G>A, NM_001206887.1:c.216G>A, NM_001206884.2:c.216G>A, NM_001206884.1:c.216G>A, NM_001206888.2:c.216G>A, NM_001206888.1:c.216G>A, NM_001085463.2:c.75G>A, NM_001085463.1:c.75G>A, NM_001085464.2:c.75G>A, NM_001085464.1:c.75G>A, NM_001085467.2:c.75G>A, NM_001085467.1:c.75G>A, NM_001085465.2:c.75G>A, NM_001085465.1:c.75G>A, NM_001206890.2:c.75G>A, NM_001206890.1:c.75G>A, NM_001085466.2:c.75G>A, NM_001085466.1:c.75G>A, NM_001085468.2:c.75G>A, NM_001085468.1:c.75G>A, NM_001085469.2:c.75G>A, NM_001085469.1:c.75G>A, NR_037646.1:n.937G>A

                                    18.

                                    rs1467950134 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      11:57815434 (GRCh38)
                                      11:57582906 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:57815433:T:C
                                      Gene:
                                      CTNND1 (Varview), TMX2-CTNND1 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000011.10:g.57815434T>C, NC_000011.9:g.57582906T>C, NG_029078.2:g.58634T>C, NG_029078.1:g.58673T>C, NM_001331.3:c.2661T>C, NM_001331.2:c.2661T>C, NM_001085458.2:c.2742T>C, NM_001085458.1:c.2742T>C, NM_001085459.2:c.2724T>C, NM_001085459.1:c.2724T>C, NM_001206885.2:c.2742T>C, NM_001206885.1:c.2742T>C, NM_001085461.2:c.2724T>C, NM_001085461.1:c.2724T>C, NM_001085460.2:c.2724T>C, NM_001085460.1:c.2724T>C, NM_001206891.2:c.2562T>C, NM_001206891.1:c.2562T>C, NM_001206889.2:c.2562T>C, NM_001206889.1:c.2562T>C, NM_001085462.2:c.2724T>C, NM_001085462.1:c.2724T>C, NM_001206883.2:c.2580T>C, NM_001206883.1:c.2580T>C, NM_001206886.2:c.2562T>C, NM_001206886.1:c.2562T>C, NM_001206887.2:c.2499T>C, NM_001206887.1:c.2499T>C, NM_001206884.2:c.2580T>C, NM_001206884.1:c.2580T>C, NM_001206888.2:c.2562T>C, NM_001206888.1:c.2562T>C, NM_001085463.2:c.2439T>C, NM_001085463.1:c.2439T>C, NM_001085464.2:c.2421T>C, NM_001085464.1:c.2421T>C, NM_001085467.2:c.2421T>C, NM_001085467.1:c.2421T>C, NM_001085465.2:c.2358T>C, NM_001085465.1:c.2358T>C, NM_001206890.2:c.2421T>C, NM_001206890.1:c.2421T>C, NM_001085466.2:c.2439T>C, NM_001085466.1:c.2439T>C, NM_001085468.2:c.2421T>C, NM_001085468.1:c.2421T>C, NM_001085469.2:c.2421T>C, NM_001085469.1:c.2421T>C, NR_037646.1:n.3301T>C

                                      19.

                                      rs1467897054 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        11:57809277 (GRCh38)
                                        11:57576749 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:57809276:A:G
                                        Gene:
                                        CTNND1 (Varview), TMX2-CTNND1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000011.10:g.57809277A>G, NC_000011.9:g.57576749A>G, NG_029078.2:g.52477A>G, NG_029078.1:g.52516A>G, NM_001331.3:c.2228A>G, NM_001331.2:c.2228A>G, NM_001085458.2:c.2246A>G, NM_001085458.1:c.2246A>G, NM_001085459.2:c.2228A>G, NM_001085459.1:c.2228A>G, NM_001206885.2:c.2246A>G, NM_001206885.1:c.2246A>G, NM_001085461.2:c.2228A>G, NM_001085461.1:c.2228A>G, NM_001085460.2:c.2228A>G, NM_001085460.1:c.2228A>G, NM_001206891.2:c.2066A>G, NM_001206891.1:c.2066A>G, NM_001206889.2:c.2066A>G, NM_001206889.1:c.2066A>G, NM_001085462.2:c.2228A>G, NM_001085462.1:c.2228A>G, NM_001206883.2:c.2084A>G, NM_001206883.1:c.2084A>G, NM_001206886.2:c.2066A>G, NM_001206886.1:c.2066A>G, NM_001206887.2:c.2066A>G, NM_001206887.1:c.2066A>G, NM_001206884.2:c.2084A>G, NM_001206884.1:c.2084A>G, NM_001206888.2:c.2066A>G, NM_001206888.1:c.2066A>G, NM_001085463.2:c.1943A>G, NM_001085463.1:c.1943A>G, NM_001085464.2:c.1925A>G, NM_001085464.1:c.1925A>G, NM_001085467.2:c.1925A>G, NM_001085467.1:c.1925A>G, NM_001085465.2:c.1925A>G, NM_001085465.1:c.1925A>G, NM_001206890.2:c.1925A>G, NM_001206890.1:c.1925A>G, NM_001085466.2:c.1943A>G, NM_001085466.1:c.1943A>G, NM_001085468.2:c.1925A>G, NM_001085468.1:c.1925A>G, NM_001085469.2:c.1925A>G, NM_001085469.1:c.1925A>G, NR_037646.1:n.2805A>G, NP_001322.1:p.Lys743Arg, NP_001078927.1:p.Lys749Arg, NP_001078928.1:p.Lys743Arg, NP_001193814.1:p.Lys749Arg, NP_001078930.1:p.Lys743Arg, NP_001078929.1:p.Lys743Arg, NP_001193820.1:p.Lys689Arg, NP_001193818.1:p.Lys689Arg, NP_001078931.1:p.Lys743Arg, NP_001193812.1:p.Lys695Arg, NP_001193815.1:p.Lys689Arg, NP_001193816.1:p.Lys689Arg, NP_001193813.1:p.Lys695Arg, NP_001193817.1:p.Lys689Arg, NP_001078932.1:p.Lys648Arg, NP_001078933.1:p.Lys642Arg, NP_001078936.1:p.Lys642Arg, NP_001078934.1:p.Lys642Arg, NP_001193819.1:p.Lys642Arg, NP_001078935.1:p.Lys648Arg, NP_001078937.1:p.Lys642Arg, NP_001078938.1:p.Lys642Arg

                                        20.

                                        rs1467843484 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          11:57809425 (GRCh38)
                                          11:57576897 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:57809424:G:C
                                          Gene:
                                          CTNND1 (Varview), TMX2-CTNND1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000029/4 (GnomAD)
                                          HGVS:
                                          NC_000011.10:g.57809425G>C, NC_000011.9:g.57576897G>C, NG_029078.2:g.52625G>C, NG_029078.1:g.52664G>C, NM_001331.3:c.2376G>C, NM_001331.2:c.2376G>C, NM_001085458.2:c.2394G>C, NM_001085458.1:c.2394G>C, NM_001085459.2:c.2376G>C, NM_001085459.1:c.2376G>C, NM_001206885.2:c.2394G>C, NM_001206885.1:c.2394G>C, NM_001085461.2:c.2376G>C, NM_001085461.1:c.2376G>C, NM_001085460.2:c.2376G>C, NM_001085460.1:c.2376G>C, NM_001206891.2:c.2214G>C, NM_001206891.1:c.2214G>C, NM_001206889.2:c.2214G>C, NM_001206889.1:c.2214G>C, NM_001085462.2:c.2376G>C, NM_001085462.1:c.2376G>C, NM_001206883.2:c.2232G>C, NM_001206883.1:c.2232G>C, NM_001206886.2:c.2214G>C, NM_001206886.1:c.2214G>C, NM_001206887.2:c.2214G>C, NM_001206887.1:c.2214G>C, NM_001206884.2:c.2232G>C, NM_001206884.1:c.2232G>C, NM_001206888.2:c.2214G>C, NM_001206888.1:c.2214G>C, NM_001085463.2:c.2091G>C, NM_001085463.1:c.2091G>C, NM_001085464.2:c.2073G>C, NM_001085464.1:c.2073G>C, NM_001085467.2:c.2073G>C, NM_001085467.1:c.2073G>C, NM_001085465.2:c.2073G>C, NM_001085465.1:c.2073G>C, NM_001206890.2:c.2073G>C, NM_001206890.1:c.2073G>C, NM_001085466.2:c.2091G>C, NM_001085466.1:c.2091G>C, NM_001085468.2:c.2073G>C, NM_001085468.1:c.2073G>C, NM_001085469.2:c.2073G>C, NM_001085469.1:c.2073G>C, NR_037646.1:n.2953G>C, NP_001322.1:p.Glu792Asp, NP_001078927.1:p.Glu798Asp, NP_001078928.1:p.Glu792Asp, NP_001193814.1:p.Glu798Asp, NP_001078930.1:p.Glu792Asp, NP_001078929.1:p.Glu792Asp, NP_001193820.1:p.Glu738Asp, NP_001193818.1:p.Glu738Asp, NP_001078931.1:p.Glu792Asp, NP_001193812.1:p.Glu744Asp, NP_001193815.1:p.Glu738Asp, NP_001193816.1:p.Glu738Asp, NP_001193813.1:p.Glu744Asp, NP_001193817.1:p.Glu738Asp, NP_001078932.1:p.Glu697Asp, NP_001078933.1:p.Glu691Asp, NP_001078936.1:p.Glu691Asp, NP_001078934.1:p.Glu691Asp, NP_001193819.1:p.Glu691Asp, NP_001078935.1:p.Glu697Asp, NP_001078937.1:p.Glu691Asp, NP_001078938.1:p.Glu691Asp

                                          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...