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Items: 1 to 20 of 382

1.

rs1483649841 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    5:138887555 (GRCh38)
    5:138223244 (GRCh37)
    Canonical SPDI:
    NC_000005.10:138887554:A:G
    Gene:
    CTNNA1 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,intron_variant,synonymous_variant,coding_sequence_variant
    Clinical significance:
    likely-benign
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000008/2 (TOPMED)
    HGVS:
    NC_000005.10:g.138887555A>G, NC_000005.9:g.138223244A>G, NG_047029.1:g.139160A>G, NM_001903.5:c.1209A>G, NM_001903.4:c.1209A>G, NM_001903.3:c.1209A>G, NM_001903.2:c.1209A>G, NM_001290307.3:c.1209A>G, NM_001290307.2:c.1209A>G, NM_001290307.1:c.1209A>G, NM_001290310.3:c.840A>G, NM_001290310.2:c.840A>G, NM_001290310.1:c.840A>G, NM_001290309.3:c.900A>G, NM_001290309.2:c.900A>G, NM_001290309.1:c.900A>G, NM_001323982.2:c.1209A>G, NM_001323982.1:c.1209A>G, NM_001323984.2:c.1209A>G, NM_001323984.1:c.1209A>G, NM_001323985.2:c.1209A>G, NM_001323985.1:c.1209A>G, NM_001323986.2:c.1209A>G, NM_001323986.1:c.1209A>G, NM_001323983.1:c.1209A>G, NM_001324005.1:c.99A>G, NM_001323996.1:c.99A>G, NM_001323993.1:c.99A>G, NM_001323998.1:c.99A>G, NM_001323999.1:c.99A>G, NM_001324003.1:c.99A>G, NM_001324007.1:c.-299A>G, NM_001323990.1:c.99A>G, NM_001323991.1:c.99A>G, NM_001324000.1:c.99A>G, NM_001324002.1:c.99A>G, NM_001324009.1:c.-299A>G, NM_001324013.1:c.-174A>G, NM_001290312.1:c.99A>G, NM_001324006.1:c.-299A>G, NM_001323988.1:c.99A>G, NM_001323997.1:c.99A>G, NM_001323992.1:c.99A>G, NM_001323995.1:c.99A>G, NM_001324001.1:c.99A>G, NM_001324011.1:c.99A>G, NM_001323989.1:c.99A>G, NM_001324004.1:c.99A>G, NM_001324008.1:c.-299A>G, NM_001323994.1:c.99A>G, NM_001323987.1:c.99A>G

    2.

    rs1477757426 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      5:138930614 (GRCh38)
      5:138266303 (GRCh37)
      Canonical SPDI:
      NC_000005.10:138930613:C:G,NC_000005.10:138930613:C:T
      Gene:
      CTNNA1 (Varview)
      Functional Consequence:
      stop_gained,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by cluster
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000005.10:g.138930614C>G, NC_000005.10:g.138930614C>T, NC_000005.9:g.138266303C>G, NC_000005.9:g.138266303C>T, NG_047029.1:g.182219C>G, NG_047029.1:g.182219C>T, NM_001903.5:c.2152C>G, NM_001903.5:c.2152C>T, NM_001903.4:c.2152C>G, NM_001903.4:c.2152C>T, NM_001903.3:c.2152C>G, NM_001903.3:c.2152C>T, NM_001903.2:c.2152C>G, NM_001903.2:c.2152C>T, NM_001290307.3:c.2152C>G, NM_001290307.3:c.2152C>T, NM_001290307.2:c.2152C>G, NM_001290307.2:c.2152C>T, NM_001290307.1:c.2152C>G, NM_001290307.1:c.2152C>T, NM_001290310.3:c.1783C>G, NM_001290310.3:c.1783C>T, NM_001290310.2:c.1783C>G, NM_001290310.2:c.1783C>T, NM_001290310.1:c.1783C>G, NM_001290310.1:c.1783C>T, NM_001290309.3:c.1843C>G, NM_001290309.3:c.1843C>T, NM_001290309.2:c.1843C>G, NM_001290309.2:c.1843C>T, NM_001290309.1:c.1843C>G, NM_001290309.1:c.1843C>T, NM_001323982.2:c.2152C>G, NM_001323982.2:c.2152C>T, NM_001323982.1:c.2152C>G, NM_001323982.1:c.2152C>T, NM_001323984.2:c.2152C>G, NM_001323984.2:c.2152C>T, NM_001323984.1:c.2152C>G, NM_001323984.1:c.2152C>T, NM_001323985.2:c.2152C>G, NM_001323985.2:c.2152C>T, NM_001323985.1:c.2152C>G, NM_001323985.1:c.2152C>T, NM_001323986.2:c.2059C>G, NM_001323986.2:c.2059C>T, NM_001323986.1:c.2059C>G, NM_001323986.1:c.2059C>T, NM_001323983.1:c.2152C>G, NM_001323983.1:c.2152C>T, NM_001324005.1:c.1042C>G, NM_001324005.1:c.1042C>T, NM_001323996.1:c.1042C>G, NM_001323996.1:c.1042C>T, NM_001323993.1:c.1042C>G, NM_001323993.1:c.1042C>T, NM_001323998.1:c.1042C>G, NM_001323998.1:c.1042C>T, NM_001323999.1:c.1042C>G, NM_001323999.1:c.1042C>T, NM_001324003.1:c.1042C>G, NM_001324003.1:c.1042C>T, NM_001324007.1:c.703C>G, NM_001324007.1:c.703C>T, NM_001323990.1:c.1042C>G, NM_001323990.1:c.1042C>T, NM_001323991.1:c.1042C>G, NM_001323991.1:c.1042C>T, NM_001324000.1:c.1042C>G, NM_001324000.1:c.1042C>T, NM_001324002.1:c.1042C>G, NM_001324002.1:c.1042C>T, NM_001324009.1:c.703C>G, NM_001324009.1:c.703C>T, NM_001324013.1:c.799C>G, NM_001324013.1:c.799C>T, NM_001290312.1:c.1042C>G, NM_001290312.1:c.1042C>T, NM_001324006.1:c.703C>G, NM_001324006.1:c.703C>T, NM_001323988.1:c.1042C>G, NM_001323988.1:c.1042C>T, NM_001323997.1:c.1042C>G, NM_001323997.1:c.1042C>T, NM_001323992.1:c.1042C>G, NM_001323992.1:c.1042C>T, NM_001323995.1:c.1042C>G, NM_001323995.1:c.1042C>T, NM_001324001.1:c.1042C>G, NM_001324001.1:c.1042C>T, NM_001324011.1:c.949C>G, NM_001324011.1:c.949C>T, NM_001323989.1:c.1042C>G, NM_001323989.1:c.1042C>T, NM_001324004.1:c.1042C>G, NM_001324004.1:c.1042C>T, NM_001324008.1:c.703C>G, NM_001324008.1:c.703C>T, NM_001323994.1:c.1042C>G, NM_001323994.1:c.1042C>T, NM_001323987.1:c.1042C>G, NM_001323987.1:c.1042C>T, NM_001324012.1:c.799C>G, NM_001324012.1:c.799C>T, NM_001324010.1:c.703C>G, NM_001324010.1:c.703C>T, NP_001894.2:p.Gln718Glu, NP_001894.2:p.Gln718Ter, NP_001277236.1:p.Gln718Glu, NP_001277236.1:p.Gln718Ter, NP_001277239.1:p.Gln595Glu, NP_001277239.1:p.Gln595Ter, NP_001277238.1:p.Gln615Glu, NP_001277238.1:p.Gln615Ter, NP_001310911.1:p.Gln718Glu, NP_001310911.1:p.Gln718Ter, NP_001310913.1:p.Gln718Glu, NP_001310913.1:p.Gln718Ter, NP_001310914.1:p.Gln718Glu, NP_001310914.1:p.Gln718Ter, NP_001310915.1:p.Gln687Glu, NP_001310915.1:p.Gln687Ter, NP_001310912.1:p.Gln718Glu, NP_001310912.1:p.Gln718Ter, NP_001310934.1:p.Gln348Glu, NP_001310934.1:p.Gln348Ter, NP_001310925.1:p.Gln348Glu, NP_001310925.1:p.Gln348Ter, NP_001310922.1:p.Gln348Glu, NP_001310922.1:p.Gln348Ter, NP_001310927.1:p.Gln348Glu, NP_001310927.1:p.Gln348Ter, NP_001310928.1:p.Gln348Glu, NP_001310928.1:p.Gln348Ter, NP_001310932.1:p.Gln348Glu, NP_001310932.1:p.Gln348Ter, NP_001310936.1:p.Gln235Glu, NP_001310936.1:p.Gln235Ter, NP_001310919.1:p.Gln348Glu, NP_001310919.1:p.Gln348Ter, NP_001310920.1:p.Gln348Glu, NP_001310920.1:p.Gln348Ter, NP_001310929.1:p.Gln348Glu, NP_001310929.1:p.Gln348Ter, NP_001310931.1:p.Gln348Glu, NP_001310931.1:p.Gln348Ter, NP_001310938.1:p.Gln235Glu, NP_001310938.1:p.Gln235Ter, NP_001310942.1:p.Gln267Glu, NP_001310942.1:p.Gln267Ter, NP_001277241.1:p.Gln348Glu, NP_001277241.1:p.Gln348Ter, NP_001310935.1:p.Gln235Glu, NP_001310935.1:p.Gln235Ter, NP_001310917.1:p.Gln348Glu, NP_001310917.1:p.Gln348Ter, NP_001310926.1:p.Gln348Glu, NP_001310926.1:p.Gln348Ter, NP_001310921.1:p.Gln348Glu, NP_001310921.1:p.Gln348Ter, NP_001310924.1:p.Gln348Glu, NP_001310924.1:p.Gln348Ter, NP_001310930.1:p.Gln348Glu, NP_001310930.1:p.Gln348Ter, NP_001310940.1:p.Gln317Glu, NP_001310940.1:p.Gln317Ter, NP_001310918.1:p.Gln348Glu, NP_001310918.1:p.Gln348Ter, NP_001310933.1:p.Gln348Glu, NP_001310933.1:p.Gln348Ter, NP_001310937.1:p.Gln235Glu, NP_001310937.1:p.Gln235Ter, NP_001310923.1:p.Gln348Glu, NP_001310923.1:p.Gln348Ter, NP_001310916.1:p.Gln348Glu, NP_001310916.1:p.Gln348Ter, NP_001310941.1:p.Gln267Glu, NP_001310941.1:p.Gln267Ter, NP_001310939.1:p.Gln235Glu, NP_001310939.1:p.Gln235Ter

      3.

      rs1476911901 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        5:138930577 (GRCh38)
        5:138266266 (GRCh37)
        Canonical SPDI:
        NC_000005.10:138930576:G:A
        Gene:
        CTNNA1 (Varview)
        Functional Consequence:
        stop_gained,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000005.10:g.138930577G>A, NC_000005.9:g.138266266G>A, NG_047029.1:g.182182G>A, NM_001903.5:c.2115G>A, NM_001903.4:c.2115G>A, NM_001903.3:c.2115G>A, NM_001903.2:c.2115G>A, NM_001290307.3:c.2115G>A, NM_001290307.2:c.2115G>A, NM_001290307.1:c.2115G>A, NM_001290310.3:c.1746G>A, NM_001290310.2:c.1746G>A, NM_001290310.1:c.1746G>A, NM_001290309.3:c.1806G>A, NM_001290309.2:c.1806G>A, NM_001290309.1:c.1806G>A, NM_001323982.2:c.2115G>A, NM_001323982.1:c.2115G>A, NM_001323984.2:c.2115G>A, NM_001323984.1:c.2115G>A, NM_001323985.2:c.2115G>A, NM_001323985.1:c.2115G>A, NM_001323986.2:c.2022G>A, NM_001323986.1:c.2022G>A, NM_001323983.1:c.2115G>A, NM_001324005.1:c.1005G>A, NM_001323996.1:c.1005G>A, NM_001323993.1:c.1005G>A, NM_001323998.1:c.1005G>A, NM_001323999.1:c.1005G>A, NM_001324003.1:c.1005G>A, NM_001324007.1:c.666G>A, NM_001323990.1:c.1005G>A, NM_001323991.1:c.1005G>A, NM_001324000.1:c.1005G>A, NM_001324002.1:c.1005G>A, NM_001324009.1:c.666G>A, NM_001324013.1:c.762G>A, NM_001290312.1:c.1005G>A, NM_001324006.1:c.666G>A, NM_001323988.1:c.1005G>A, NM_001323997.1:c.1005G>A, NM_001323992.1:c.1005G>A, NM_001323995.1:c.1005G>A, NM_001324001.1:c.1005G>A, NM_001324011.1:c.912G>A, NM_001323989.1:c.1005G>A, NM_001324004.1:c.1005G>A, NM_001324008.1:c.666G>A, NM_001323994.1:c.1005G>A, NM_001323987.1:c.1005G>A, NM_001324012.1:c.762G>A, NM_001324010.1:c.666G>A, NP_001894.2:p.Trp705Ter, NP_001277236.1:p.Trp705Ter, NP_001277239.1:p.Trp582Ter, NP_001277238.1:p.Trp602Ter, NP_001310911.1:p.Trp705Ter, NP_001310913.1:p.Trp705Ter, NP_001310914.1:p.Trp705Ter, NP_001310915.1:p.Trp674Ter, NP_001310912.1:p.Trp705Ter, NP_001310934.1:p.Trp335Ter, NP_001310925.1:p.Trp335Ter, NP_001310922.1:p.Trp335Ter, NP_001310927.1:p.Trp335Ter, NP_001310928.1:p.Trp335Ter, NP_001310932.1:p.Trp335Ter, NP_001310936.1:p.Trp222Ter, NP_001310919.1:p.Trp335Ter, NP_001310920.1:p.Trp335Ter, NP_001310929.1:p.Trp335Ter, NP_001310931.1:p.Trp335Ter, NP_001310938.1:p.Trp222Ter, NP_001310942.1:p.Trp254Ter, NP_001277241.1:p.Trp335Ter, NP_001310935.1:p.Trp222Ter, NP_001310917.1:p.Trp335Ter, NP_001310926.1:p.Trp335Ter, NP_001310921.1:p.Trp335Ter, NP_001310924.1:p.Trp335Ter, NP_001310930.1:p.Trp335Ter, NP_001310940.1:p.Trp304Ter, NP_001310918.1:p.Trp335Ter, NP_001310933.1:p.Trp335Ter, NP_001310937.1:p.Trp222Ter, NP_001310923.1:p.Trp335Ter, NP_001310916.1:p.Trp335Ter, NP_001310941.1:p.Trp254Ter, NP_001310939.1:p.Trp222Ter

        4.

        rs1476494659 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->C [Show Flanks]
          Chromosome:
          5:138930916 (GRCh38)
          5:138266606 (GRCh37)
          Canonical SPDI:
          NC_000005.10:138930916:CC:CCC
          Gene:
          CTNNA1 (Varview)
          Functional Consequence:
          coding_sequence_variant,frameshift_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000005.10:g.138930918dup, NC_000005.9:g.138266607dup, NG_047029.1:g.182523dup, NM_001903.5:c.2281dup, NM_001903.4:c.2281dup, NM_001903.3:c.2281dup, NM_001903.2:c.2281dup, NM_001290307.3:c.2281dup, NM_001290307.2:c.2281dup, NM_001290307.1:c.2281dup, NM_001290310.3:c.1912dup, NM_001290310.2:c.1912dup, NM_001290310.1:c.1912dup, NM_001290309.3:c.1972dup, NM_001290309.2:c.1972dup, NM_001290309.1:c.1972dup, NM_001323982.2:c.2281dup, NM_001323982.1:c.2281dup, NM_001323984.2:c.2281dup, NM_001323984.1:c.2281dup, NM_001323985.2:c.2281dup, NM_001323985.1:c.2281dup, NM_001323986.2:c.2188dup, NM_001323986.1:c.2188dup, NM_001323983.1:c.2281dup, NM_001324005.1:c.1171dup, NM_001323996.1:c.1171dup, NM_001323993.1:c.1171dup, NM_001323998.1:c.1171dup, NM_001323999.1:c.1171dup, NM_001324003.1:c.1171dup, NM_001324007.1:c.832dup, NM_001323990.1:c.1171dup, NM_001323991.1:c.1171dup, NM_001324000.1:c.1171dup, NM_001324002.1:c.1171dup, NM_001324009.1:c.832dup, NM_001324013.1:c.928dup, NM_001290312.1:c.1171dup, NM_001324006.1:c.832dup, NM_001323988.1:c.1171dup, NM_001323997.1:c.1171dup, NM_001323992.1:c.1171dup, NM_001323995.1:c.1171dup, NM_001324001.1:c.1171dup, NM_001324011.1:c.1078dup, NM_001323989.1:c.1171dup, NM_001324004.1:c.1171dup, NM_001324008.1:c.832dup, NM_001323994.1:c.1171dup, NM_001323987.1:c.1171dup, NM_001324012.1:c.928dup, NM_001324010.1:c.832dup, NP_001894.2:p.Arg761fs, NP_001277236.1:p.Arg761fs, NP_001277239.1:p.Arg638fs, NP_001277238.1:p.Arg658fs, NP_001310911.1:p.Arg761fs, NP_001310913.1:p.Arg761fs, NP_001310914.1:p.Arg761fs, NP_001310915.1:p.Arg730fs, NP_001310912.1:p.Arg761fs, NP_001310934.1:p.Arg391fs, NP_001310925.1:p.Arg391fs, NP_001310922.1:p.Arg391fs, NP_001310927.1:p.Arg391fs, NP_001310928.1:p.Arg391fs, NP_001310932.1:p.Arg391fs, NP_001310936.1:p.Arg278fs, NP_001310919.1:p.Arg391fs, NP_001310920.1:p.Arg391fs, NP_001310929.1:p.Arg391fs, NP_001310931.1:p.Arg391fs, NP_001310938.1:p.Arg278fs, NP_001310942.1:p.Arg310fs, NP_001277241.1:p.Arg391fs, NP_001310935.1:p.Arg278fs, NP_001310917.1:p.Arg391fs, NP_001310926.1:p.Arg391fs, NP_001310921.1:p.Arg391fs, NP_001310924.1:p.Arg391fs, NP_001310930.1:p.Arg391fs, NP_001310940.1:p.Arg360fs, NP_001310918.1:p.Arg391fs, NP_001310933.1:p.Arg391fs, NP_001310937.1:p.Arg278fs, NP_001310923.1:p.Arg391fs, NP_001310916.1:p.Arg391fs, NP_001310941.1:p.Arg310fs, NP_001310939.1:p.Arg278fs

          5.

          rs1474594608 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            5:138917795 (GRCh38)
            5:138253484 (GRCh37)
            Canonical SPDI:
            NC_000005.10:138917794:A:G
            Gene:
            CTNNA1 (Varview)
            Functional Consequence:
            synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000005.10:g.138917795A>G, NC_000005.9:g.138253484A>G, NG_047029.1:g.169400A>G, NM_001903.5:c.1443A>G, NM_001903.4:c.1443A>G, NM_001903.3:c.1443A>G, NM_001903.2:c.1443A>G, NM_001290307.3:c.1443A>G, NM_001290307.2:c.1443A>G, NM_001290307.1:c.1443A>G, NM_001290310.3:c.1074A>G, NM_001290310.2:c.1074A>G, NM_001290310.1:c.1074A>G, NM_001290309.3:c.1134A>G, NM_001290309.2:c.1134A>G, NM_001290309.1:c.1134A>G, NM_001323982.2:c.1443A>G, NM_001323982.1:c.1443A>G, NM_001323984.2:c.1443A>G, NM_001323984.1:c.1443A>G, NM_001323985.2:c.1443A>G, NM_001323985.1:c.1443A>G, NM_001323986.2:c.1350A>G, NM_001323986.1:c.1350A>G, NM_001323983.1:c.1443A>G, NM_001324005.1:c.333A>G, NM_001323996.1:c.333A>G, NM_001323993.1:c.333A>G, NM_001323998.1:c.333A>G, NM_001323999.1:c.333A>G, NM_001324003.1:c.333A>G, NM_001324007.1:c.-7A>G, NM_001323990.1:c.333A>G, NM_001323991.1:c.333A>G, NM_001324000.1:c.333A>G, NM_001324002.1:c.333A>G, NM_001324009.1:c.-7A>G, NM_001324013.1:c.90A>G, NM_001290312.1:c.333A>G, NM_001324006.1:c.-7A>G, NM_001323988.1:c.333A>G, NM_001323997.1:c.333A>G, NM_001323992.1:c.333A>G, NM_001323995.1:c.333A>G, NM_001324001.1:c.333A>G, NM_001324011.1:c.240A>G, NM_001323989.1:c.333A>G, NM_001324004.1:c.333A>G, NM_001324008.1:c.-7A>G, NM_001323994.1:c.333A>G, NM_001323987.1:c.333A>G, NM_001324012.1:c.90A>G, NM_001324010.1:c.-7A>G

            6.

            rs1470787021 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              5:138929284 (GRCh38)
              5:138264973 (GRCh37)
              Canonical SPDI:
              NC_000005.10:138929283:A:T
              Gene:
              CTNNA1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Clinical significance:
              uncertain-significance
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000005.10:g.138929284A>T, NC_000005.9:g.138264973A>T, NG_047029.1:g.180889A>T, NM_001903.5:c.1938A>T, NM_001903.4:c.1938A>T, NM_001903.3:c.1938A>T, NM_001903.2:c.1938A>T, NM_001290307.3:c.1938A>T, NM_001290307.2:c.1938A>T, NM_001290307.1:c.1938A>T, NM_001290310.3:c.1569A>T, NM_001290310.2:c.1569A>T, NM_001290310.1:c.1569A>T, NM_001290309.3:c.1629A>T, NM_001290309.2:c.1629A>T, NM_001290309.1:c.1629A>T, NM_001323982.2:c.1938A>T, NM_001323982.1:c.1938A>T, NM_001323984.2:c.1938A>T, NM_001323984.1:c.1938A>T, NM_001323985.2:c.1938A>T, NM_001323985.1:c.1938A>T, NM_001323986.2:c.1845A>T, NM_001323986.1:c.1845A>T, NM_001323983.1:c.1938A>T, NM_001324005.1:c.828A>T, NM_001323996.1:c.828A>T, NM_001323993.1:c.828A>T, NM_001323998.1:c.828A>T, NM_001323999.1:c.828A>T, NM_001324003.1:c.828A>T, NM_001324007.1:c.489A>T, NM_001323990.1:c.828A>T, NM_001323991.1:c.828A>T, NM_001324000.1:c.828A>T, NM_001324002.1:c.828A>T, NM_001324009.1:c.489A>T, NM_001324013.1:c.585A>T, NM_001290312.1:c.828A>T, NM_001324006.1:c.489A>T, NM_001323988.1:c.828A>T, NM_001323997.1:c.828A>T, NM_001323992.1:c.828A>T, NM_001323995.1:c.828A>T, NM_001324001.1:c.828A>T, NM_001324011.1:c.735A>T, NM_001323989.1:c.828A>T, NM_001324004.1:c.828A>T, NM_001324008.1:c.489A>T, NM_001323994.1:c.828A>T, NM_001323987.1:c.828A>T, NM_001324012.1:c.585A>T, NM_001324010.1:c.489A>T, NP_001894.2:p.Glu646Asp, NP_001277236.1:p.Glu646Asp, NP_001277239.1:p.Glu523Asp, NP_001277238.1:p.Glu543Asp, NP_001310911.1:p.Glu646Asp, NP_001310913.1:p.Glu646Asp, NP_001310914.1:p.Glu646Asp, NP_001310915.1:p.Glu615Asp, NP_001310912.1:p.Glu646Asp, NP_001310934.1:p.Glu276Asp, NP_001310925.1:p.Glu276Asp, NP_001310922.1:p.Glu276Asp, NP_001310927.1:p.Glu276Asp, NP_001310928.1:p.Glu276Asp, NP_001310932.1:p.Glu276Asp, NP_001310936.1:p.Glu163Asp, NP_001310919.1:p.Glu276Asp, NP_001310920.1:p.Glu276Asp, NP_001310929.1:p.Glu276Asp, NP_001310931.1:p.Glu276Asp, NP_001310938.1:p.Glu163Asp, NP_001310942.1:p.Glu195Asp, NP_001277241.1:p.Glu276Asp, NP_001310935.1:p.Glu163Asp, NP_001310917.1:p.Glu276Asp, NP_001310926.1:p.Glu276Asp, NP_001310921.1:p.Glu276Asp, NP_001310924.1:p.Glu276Asp, NP_001310930.1:p.Glu276Asp, NP_001310940.1:p.Glu245Asp, NP_001310918.1:p.Glu276Asp, NP_001310933.1:p.Glu276Asp, NP_001310937.1:p.Glu163Asp, NP_001310923.1:p.Glu276Asp, NP_001310916.1:p.Glu276Asp, NP_001310941.1:p.Glu195Asp, NP_001310939.1:p.Glu163Asp

              7.

              rs1466982820 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                5:138924698 (GRCh38)
                5:138260387 (GRCh37)
                Canonical SPDI:
                NC_000005.10:138924697:C:T
                Gene:
                CTNNA1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                T=0.000005/1 (GnomAD_exomes)
                HGVS:
                NC_000005.10:g.138924698C>T, NC_000005.9:g.138260387C>T, NG_047029.1:g.176303C>T, NM_001903.5:c.1735C>T, NM_001903.4:c.1735C>T, NM_001903.3:c.1735C>T, NM_001903.2:c.1735C>T, NM_001290307.3:c.1735C>T, NM_001290307.2:c.1735C>T, NM_001290307.1:c.1735C>T, NM_001290310.3:c.1366C>T, NM_001290310.2:c.1366C>T, NM_001290310.1:c.1366C>T, NM_001290309.3:c.1426C>T, NM_001290309.2:c.1426C>T, NM_001290309.1:c.1426C>T, NM_001323982.2:c.1735C>T, NM_001323982.1:c.1735C>T, NM_001323984.2:c.1735C>T, NM_001323984.1:c.1735C>T, NM_001323985.2:c.1735C>T, NM_001323985.1:c.1735C>T, NM_001323986.2:c.1642C>T, NM_001323986.1:c.1642C>T, NM_001323983.1:c.1735C>T, NM_001324005.1:c.625C>T, NM_001323996.1:c.625C>T, NM_001323993.1:c.625C>T, NM_001323998.1:c.625C>T, NM_001323999.1:c.625C>T, NM_001324003.1:c.625C>T, NM_001324007.1:c.286C>T, NM_001323990.1:c.625C>T, NM_001323991.1:c.625C>T, NM_001324000.1:c.625C>T, NM_001324002.1:c.625C>T, NM_001324009.1:c.286C>T, NM_001324013.1:c.382C>T, NM_001290312.1:c.625C>T, NM_001324006.1:c.286C>T, NM_001323988.1:c.625C>T, NM_001323997.1:c.625C>T, NM_001323992.1:c.625C>T, NM_001323995.1:c.625C>T, NM_001324001.1:c.625C>T, NM_001324011.1:c.532C>T, NM_001323989.1:c.625C>T, NM_001324004.1:c.625C>T, NM_001324008.1:c.286C>T, NM_001323994.1:c.625C>T, NM_001323987.1:c.625C>T, NM_001324012.1:c.382C>T, NM_001324010.1:c.286C>T, NP_001894.2:p.Leu579Phe, NP_001277236.1:p.Leu579Phe, NP_001277239.1:p.Leu456Phe, NP_001277238.1:p.Leu476Phe, NP_001310911.1:p.Leu579Phe, NP_001310913.1:p.Leu579Phe, NP_001310914.1:p.Leu579Phe, NP_001310915.1:p.Leu548Phe, NP_001310912.1:p.Leu579Phe, NP_001310934.1:p.Leu209Phe, NP_001310925.1:p.Leu209Phe, NP_001310922.1:p.Leu209Phe, NP_001310927.1:p.Leu209Phe, NP_001310928.1:p.Leu209Phe, NP_001310932.1:p.Leu209Phe, NP_001310936.1:p.Leu96Phe, NP_001310919.1:p.Leu209Phe, NP_001310920.1:p.Leu209Phe, NP_001310929.1:p.Leu209Phe, NP_001310931.1:p.Leu209Phe, NP_001310938.1:p.Leu96Phe, NP_001310942.1:p.Leu128Phe, NP_001277241.1:p.Leu209Phe, NP_001310935.1:p.Leu96Phe, NP_001310917.1:p.Leu209Phe, NP_001310926.1:p.Leu209Phe, NP_001310921.1:p.Leu209Phe, NP_001310924.1:p.Leu209Phe, NP_001310930.1:p.Leu209Phe, NP_001310940.1:p.Leu178Phe, NP_001310918.1:p.Leu209Phe, NP_001310933.1:p.Leu209Phe, NP_001310937.1:p.Leu96Phe, NP_001310923.1:p.Leu209Phe, NP_001310916.1:p.Leu209Phe, NP_001310941.1:p.Leu128Phe, NP_001310939.1:p.Leu96Phe

                8.

                rs1466157213 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  5:138930508 (GRCh38)
                  5:138266197 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:138930507:G:A
                  Gene:
                  CTNNA1 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Clinical significance:
                  likely-benign
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  A=0.000035/1 (TOMMO)
                  HGVS:
                  NC_000005.10:g.138930508G>A, NC_000005.9:g.138266197G>A, NG_047029.1:g.182113G>A, NM_001903.5:c.2046G>A, NM_001903.4:c.2046G>A, NM_001903.3:c.2046G>A, NM_001903.2:c.2046G>A, NM_001290307.3:c.2046G>A, NM_001290307.2:c.2046G>A, NM_001290307.1:c.2046G>A, NM_001290310.3:c.1677G>A, NM_001290310.2:c.1677G>A, NM_001290310.1:c.1677G>A, NM_001290309.3:c.1737G>A, NM_001290309.2:c.1737G>A, NM_001290309.1:c.1737G>A, NM_001323982.2:c.2046G>A, NM_001323982.1:c.2046G>A, NM_001323984.2:c.2046G>A, NM_001323984.1:c.2046G>A, NM_001323985.2:c.2046G>A, NM_001323985.1:c.2046G>A, NM_001323986.2:c.1953G>A, NM_001323986.1:c.1953G>A, NM_001323983.1:c.2046G>A, NM_001324005.1:c.936G>A, NM_001323996.1:c.936G>A, NM_001323993.1:c.936G>A, NM_001323998.1:c.936G>A, NM_001323999.1:c.936G>A, NM_001324003.1:c.936G>A, NM_001324007.1:c.597G>A, NM_001323990.1:c.936G>A, NM_001323991.1:c.936G>A, NM_001324000.1:c.936G>A, NM_001324002.1:c.936G>A, NM_001324009.1:c.597G>A, NM_001324013.1:c.693G>A, NM_001290312.1:c.936G>A, NM_001324006.1:c.597G>A, NM_001323988.1:c.936G>A, NM_001323997.1:c.936G>A, NM_001323992.1:c.936G>A, NM_001323995.1:c.936G>A, NM_001324001.1:c.936G>A, NM_001324011.1:c.843G>A, NM_001323989.1:c.936G>A, NM_001324004.1:c.936G>A, NM_001324008.1:c.597G>A, NM_001323994.1:c.936G>A, NM_001323987.1:c.936G>A, NM_001324012.1:c.693G>A, NM_001324010.1:c.597G>A

                  9.

                  rs1465950903 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    5:138917803 (GRCh38)
                    5:138253492 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:138917802:T:C
                    Gene:
                    CTNNA1 (Varview)
                    Functional Consequence:
                    missense_variant,initiator_codon_variant,coding_sequence_variant
                    Clinical significance:
                    uncertain-significance
                    HGVS:
                    NC_000005.10:g.138917803T>C, NC_000005.9:g.138253492T>C, NG_047029.1:g.169408T>C, NM_001903.5:c.1451T>C, NM_001903.4:c.1451T>C, NM_001903.3:c.1451T>C, NM_001903.2:c.1451T>C, NM_001290307.3:c.1451T>C, NM_001290307.2:c.1451T>C, NM_001290307.1:c.1451T>C, NM_001290310.3:c.1082T>C, NM_001290310.2:c.1082T>C, NM_001290310.1:c.1082T>C, NM_001290309.3:c.1142T>C, NM_001290309.2:c.1142T>C, NM_001290309.1:c.1142T>C, NM_001323982.2:c.1451T>C, NM_001323982.1:c.1451T>C, NM_001323984.2:c.1451T>C, NM_001323984.1:c.1451T>C, NM_001323985.2:c.1451T>C, NM_001323985.1:c.1451T>C, NM_001323986.2:c.1358T>C, NM_001323986.1:c.1358T>C, NM_001323983.1:c.1451T>C, NM_001324005.1:c.341T>C, NM_001323996.1:c.341T>C, NM_001323993.1:c.341T>C, NM_001323998.1:c.341T>C, NM_001323999.1:c.341T>C, NM_001324003.1:c.341T>C, NM_001324007.1:c.2T>C, NM_001323990.1:c.341T>C, NM_001323991.1:c.341T>C, NM_001324000.1:c.341T>C, NM_001324002.1:c.341T>C, NM_001324009.1:c.2T>C, NM_001324013.1:c.98T>C, NM_001290312.1:c.341T>C, NM_001324006.1:c.2T>C, NM_001323988.1:c.341T>C, NM_001323997.1:c.341T>C, NM_001323992.1:c.341T>C, NM_001323995.1:c.341T>C, NM_001324001.1:c.341T>C, NM_001324011.1:c.248T>C, NM_001323989.1:c.341T>C, NM_001324004.1:c.341T>C, NM_001324008.1:c.2T>C, NM_001323994.1:c.341T>C, NM_001323987.1:c.341T>C, NM_001324012.1:c.98T>C, NM_001324010.1:c.2T>C, NP_001894.2:p.Met484Thr, NP_001277236.1:p.Met484Thr, NP_001277239.1:p.Met361Thr, NP_001277238.1:p.Met381Thr, NP_001310911.1:p.Met484Thr, NP_001310913.1:p.Met484Thr, NP_001310914.1:p.Met484Thr, NP_001310915.1:p.Met453Thr, NP_001310912.1:p.Met484Thr, NP_001310934.1:p.Met114Thr, NP_001310925.1:p.Met114Thr, NP_001310922.1:p.Met114Thr, NP_001310927.1:p.Met114Thr, NP_001310928.1:p.Met114Thr, NP_001310932.1:p.Met114Thr, NP_001310936.1:p.Met1Thr, NP_001310919.1:p.Met114Thr, NP_001310920.1:p.Met114Thr, NP_001310929.1:p.Met114Thr, NP_001310931.1:p.Met114Thr, NP_001310938.1:p.Met1Thr, NP_001310942.1:p.Met33Thr, NP_001277241.1:p.Met114Thr, NP_001310935.1:p.Met1Thr, NP_001310917.1:p.Met114Thr, NP_001310926.1:p.Met114Thr, NP_001310921.1:p.Met114Thr, NP_001310924.1:p.Met114Thr, NP_001310930.1:p.Met114Thr, NP_001310940.1:p.Met83Thr, NP_001310918.1:p.Met114Thr, NP_001310933.1:p.Met114Thr, NP_001310937.1:p.Met1Thr, NP_001310923.1:p.Met114Thr, NP_001310916.1:p.Met114Thr, NP_001310941.1:p.Met33Thr, NP_001310939.1:p.Met1Thr

                    10.

                    rs1463523487 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      5:138924640 (GRCh38)
                      5:138260329 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:138924639:G:A
                      Gene:
                      CTNNA1 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000005.10:g.138924640G>A, NC_000005.9:g.138260329G>A, NG_047029.1:g.176245G>A, NM_001903.5:c.1677G>A, NM_001903.4:c.1677G>A, NM_001903.3:c.1677G>A, NM_001903.2:c.1677G>A, NM_001290307.3:c.1677G>A, NM_001290307.2:c.1677G>A, NM_001290307.1:c.1677G>A, NM_001290310.3:c.1308G>A, NM_001290310.2:c.1308G>A, NM_001290310.1:c.1308G>A, NM_001290309.3:c.1368G>A, NM_001290309.2:c.1368G>A, NM_001290309.1:c.1368G>A, NM_001323982.2:c.1677G>A, NM_001323982.1:c.1677G>A, NM_001323984.2:c.1677G>A, NM_001323984.1:c.1677G>A, NM_001323985.2:c.1677G>A, NM_001323985.1:c.1677G>A, NM_001323986.2:c.1584G>A, NM_001323986.1:c.1584G>A, NM_001323983.1:c.1677G>A, NM_001324005.1:c.567G>A, NM_001323996.1:c.567G>A, NM_001323993.1:c.567G>A, NM_001323998.1:c.567G>A, NM_001323999.1:c.567G>A, NM_001324003.1:c.567G>A, NM_001324007.1:c.228G>A, NM_001323990.1:c.567G>A, NM_001323991.1:c.567G>A, NM_001324000.1:c.567G>A, NM_001324002.1:c.567G>A, NM_001324009.1:c.228G>A, NM_001324013.1:c.324G>A, NM_001290312.1:c.567G>A, NM_001324006.1:c.228G>A, NM_001323988.1:c.567G>A, NM_001323997.1:c.567G>A, NM_001323992.1:c.567G>A, NM_001323995.1:c.567G>A, NM_001324001.1:c.567G>A, NM_001324011.1:c.474G>A, NM_001323989.1:c.567G>A, NM_001324004.1:c.567G>A, NM_001324008.1:c.228G>A, NM_001323994.1:c.567G>A, NM_001323987.1:c.567G>A, NM_001324012.1:c.324G>A, NM_001324010.1:c.228G>A

                      11.

                      rs1461804877 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        5:138887621 (GRCh38)
                        5:138223310 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:138887620:A:G
                        Gene:
                        CTNNA1 (Varview)
                        Functional Consequence:
                        synonymous_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant
                        Clinical significance:
                        likely-benign
                        HGVS:
                        NC_000005.10:g.138887621A>G, NC_000005.9:g.138223310A>G, NG_047029.1:g.139226A>G, NM_001903.5:c.1275A>G, NM_001903.4:c.1275A>G, NM_001903.3:c.1275A>G, NM_001903.2:c.1275A>G, NM_001290307.3:c.1275A>G, NM_001290307.2:c.1275A>G, NM_001290307.1:c.1275A>G, NM_001290310.3:c.906A>G, NM_001290310.2:c.906A>G, NM_001290310.1:c.906A>G, NM_001290309.3:c.966A>G, NM_001290309.2:c.966A>G, NM_001290309.1:c.966A>G, NM_001323982.2:c.1275A>G, NM_001323982.1:c.1275A>G, NM_001323984.2:c.1275A>G, NM_001323984.1:c.1275A>G, NM_001323985.2:c.1275A>G, NM_001323985.1:c.1275A>G, NM_001323986.2:c.1275A>G, NM_001323986.1:c.1275A>G, NM_001323983.1:c.1275A>G, NM_001324005.1:c.165A>G, NM_001323996.1:c.165A>G, NM_001323993.1:c.165A>G, NM_001323998.1:c.165A>G, NM_001323999.1:c.165A>G, NM_001324003.1:c.165A>G, NM_001324007.1:c.-233A>G, NM_001323990.1:c.165A>G, NM_001323991.1:c.165A>G, NM_001324000.1:c.165A>G, NM_001324002.1:c.165A>G, NM_001324009.1:c.-233A>G, NM_001324013.1:c.-108A>G, NM_001290312.1:c.165A>G, NM_001324006.1:c.-233A>G, NM_001323988.1:c.165A>G, NM_001323997.1:c.165A>G, NM_001323992.1:c.165A>G, NM_001323995.1:c.165A>G, NM_001324001.1:c.165A>G, NM_001324011.1:c.165A>G, NM_001323989.1:c.165A>G, NM_001324004.1:c.165A>G, NM_001324008.1:c.-233A>G, NM_001323994.1:c.165A>G, NM_001323987.1:c.165A>G

                        12.

                        rs1461406662 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          5:138934032 (GRCh38)
                          5:138269721 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:138934031:G:A,NC_000005.10:138934031:G:C
                          Gene:
                          CTNNA1 (Varview)
                          Functional Consequence:
                          missense_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
                          Clinical significance:
                          uncertain-significance
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000005.10:g.138934032G>A, NC_000005.10:g.138934032G>C, NC_000005.9:g.138269721G>A, NC_000005.9:g.138269721G>C, NG_047029.1:g.185637G>A, NG_047029.1:g.185637G>C, NM_001903.5:c.2664G>A, NM_001903.5:c.2664G>C, NM_001903.4:c.2664G>A, NM_001903.4:c.2664G>C, NM_001903.3:c.2664G>A, NM_001903.3:c.2664G>C, NM_001903.2:c.2664G>A, NM_001903.2:c.2664G>C, NM_001290307.3:c.*209G>A, NM_001290307.3:c.*209G>C, NM_001290307.2:c.*209G>A, NM_001290307.2:c.*209G>C, NM_001290307.1:c.*209G>A, NM_001290307.1:c.*209G>C, NM_001290310.3:c.2295G>A, NM_001290310.3:c.2295G>C, NM_001290310.2:c.2295G>A, NM_001290310.2:c.2295G>C, NM_001290310.1:c.2295G>A, NM_001290310.1:c.2295G>C, NM_001290309.3:c.2355G>A, NM_001290309.3:c.2355G>C, NM_001290309.2:c.2355G>A, NM_001290309.2:c.2355G>C, NM_001290309.1:c.2355G>A, NM_001290309.1:c.2355G>C, NM_001323982.2:c.2664G>A, NM_001323982.2:c.2664G>C, NM_001323982.1:c.2664G>A, NM_001323982.1:c.2664G>C, NM_001323984.2:c.2664G>A, NM_001323984.2:c.2664G>C, NM_001323984.1:c.2664G>A, NM_001323984.1:c.2664G>C, NM_001323985.2:c.2637G>A, NM_001323985.2:c.2637G>C, NM_001323985.1:c.2637G>A, NM_001323985.1:c.2637G>C, NM_001323986.2:c.2571G>A, NM_001323986.2:c.2571G>C, NM_001323986.1:c.2571G>A, NM_001323986.1:c.2571G>C, NM_001323983.1:c.2664G>A, NM_001323983.1:c.2664G>C, NM_001324005.1:c.*209G>A, NM_001324005.1:c.*209G>C, NM_001323996.1:c.1554G>A, NM_001323996.1:c.1554G>C, NM_001323993.1:c.1554G>A, NM_001323993.1:c.1554G>C, NM_001323998.1:c.1554G>A, NM_001323998.1:c.1554G>C, NM_001323999.1:c.1554G>A, NM_001323999.1:c.1554G>C, NM_001324003.1:c.*209G>A, NM_001324003.1:c.*209G>C, NM_001324007.1:c.1215G>A, NM_001324007.1:c.1215G>C, NM_001323990.1:c.1554G>A, NM_001323990.1:c.1554G>C, NM_001323991.1:c.1554G>A, NM_001323991.1:c.1554G>C, NM_001324000.1:c.1554G>A, NM_001324000.1:c.1554G>C, NM_001324002.1:c.*209G>A, NM_001324002.1:c.*209G>C, NM_001324009.1:c.1215G>A, NM_001324009.1:c.1215G>C, NM_001324013.1:c.1311G>A, NM_001324013.1:c.1311G>C, NM_001290312.1:c.1554G>A, NM_001290312.1:c.1554G>C, NM_001324006.1:c.1215G>A, NM_001324006.1:c.1215G>C, NM_001323988.1:c.1554G>A, NM_001323988.1:c.1554G>C, NM_001323997.1:c.1554G>A, NM_001323997.1:c.1554G>C, NM_001323992.1:c.1554G>A, NM_001323992.1:c.1554G>C, NM_001323995.1:c.1554G>A, NM_001323995.1:c.1554G>C, NM_001324001.1:c.1419G>A, NM_001324001.1:c.1419G>C, NM_001324011.1:c.1461G>A, NM_001324011.1:c.1461G>C, NM_001323989.1:c.1554G>A, NM_001323989.1:c.1554G>C, NM_001324004.1:c.*209G>A, NM_001324004.1:c.*209G>C, NM_001324008.1:c.1215G>A, NM_001324008.1:c.1215G>C, NM_001323994.1:c.1554G>A, NM_001323994.1:c.1554G>C, NM_001323987.1:c.1554G>A, NM_001323987.1:c.1554G>C, NM_001324012.1:c.1311G>A, NM_001324012.1:c.1311G>C, NM_001324010.1:c.1215G>A, NM_001324010.1:c.1215G>C, NP_001894.2:p.Lys888Asn, NP_001277239.1:p.Lys765Asn, NP_001277238.1:p.Lys785Asn, NP_001310911.1:p.Lys888Asn, NP_001310913.1:p.Lys888Asn, NP_001310914.1:p.Lys879Asn, NP_001310915.1:p.Lys857Asn, NP_001310912.1:p.Lys888Asn, NP_001310925.1:p.Lys518Asn, NP_001310922.1:p.Lys518Asn, NP_001310927.1:p.Lys518Asn, NP_001310928.1:p.Lys518Asn, NP_001310936.1:p.Lys405Asn, NP_001310919.1:p.Lys518Asn, NP_001310920.1:p.Lys518Asn, NP_001310929.1:p.Lys518Asn, NP_001310938.1:p.Lys405Asn, NP_001310942.1:p.Lys437Asn, NP_001277241.1:p.Lys518Asn, NP_001310935.1:p.Lys405Asn, NP_001310917.1:p.Lys518Asn, NP_001310926.1:p.Lys518Asn, NP_001310921.1:p.Lys518Asn, NP_001310924.1:p.Lys518Asn, NP_001310930.1:p.Lys473Asn, NP_001310940.1:p.Lys487Asn, NP_001310918.1:p.Lys518Asn, NP_001310937.1:p.Lys405Asn, NP_001310923.1:p.Lys518Asn, NP_001310916.1:p.Lys518Asn, NP_001310941.1:p.Lys437Asn, NP_001310939.1:p.Lys405Asn

                          13.

                          rs1460381137 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            5:138887511 (GRCh38)
                            5:138223200 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:138887510:C:A
                            Gene:
                            CTNNA1 (Varview)
                            Functional Consequence:
                            missense_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant
                            Clinical significance:
                            uncertain-significance
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000005.10:g.138887511C>A, NC_000005.9:g.138223200C>A, NG_047029.1:g.139116C>A, NM_001903.5:c.1165C>A, NM_001903.4:c.1165C>A, NM_001903.3:c.1165C>A, NM_001903.2:c.1165C>A, NM_001290307.3:c.1165C>A, NM_001290307.2:c.1165C>A, NM_001290307.1:c.1165C>A, NM_001290310.3:c.796C>A, NM_001290310.2:c.796C>A, NM_001290310.1:c.796C>A, NM_001290309.3:c.856C>A, NM_001290309.2:c.856C>A, NM_001290309.1:c.856C>A, NM_001323982.2:c.1165C>A, NM_001323982.1:c.1165C>A, NM_001323984.2:c.1165C>A, NM_001323984.1:c.1165C>A, NM_001323985.2:c.1165C>A, NM_001323985.1:c.1165C>A, NM_001323986.2:c.1165C>A, NM_001323986.1:c.1165C>A, NM_001323983.1:c.1165C>A, NM_001324005.1:c.55C>A, NM_001323996.1:c.55C>A, NM_001323993.1:c.55C>A, NM_001323998.1:c.55C>A, NM_001323999.1:c.55C>A, NM_001324003.1:c.55C>A, NM_001324007.1:c.-343C>A, NM_001323990.1:c.55C>A, NM_001323991.1:c.55C>A, NM_001324000.1:c.55C>A, NM_001324002.1:c.55C>A, NM_001324009.1:c.-343C>A, NM_001324013.1:c.-218C>A, NM_001290312.1:c.55C>A, NM_001324006.1:c.-343C>A, NM_001323988.1:c.55C>A, NM_001323997.1:c.55C>A, NM_001323992.1:c.55C>A, NM_001323995.1:c.55C>A, NM_001324001.1:c.55C>A, NM_001324011.1:c.55C>A, NM_001323989.1:c.55C>A, NM_001324004.1:c.55C>A, NM_001324008.1:c.-343C>A, NM_001323994.1:c.55C>A, NM_001323987.1:c.55C>A, NP_001894.2:p.His389Asn, NP_001277236.1:p.His389Asn, NP_001277239.1:p.His266Asn, NP_001277238.1:p.His286Asn, NP_001310911.1:p.His389Asn, NP_001310913.1:p.His389Asn, NP_001310914.1:p.His389Asn, NP_001310915.1:p.His389Asn, NP_001310912.1:p.His389Asn, NP_001310934.1:p.His19Asn, NP_001310925.1:p.His19Asn, NP_001310922.1:p.His19Asn, NP_001310927.1:p.His19Asn, NP_001310928.1:p.His19Asn, NP_001310932.1:p.His19Asn, NP_001310919.1:p.His19Asn, NP_001310920.1:p.His19Asn, NP_001310929.1:p.His19Asn, NP_001310931.1:p.His19Asn, NP_001277241.1:p.His19Asn, NP_001310917.1:p.His19Asn, NP_001310926.1:p.His19Asn, NP_001310921.1:p.His19Asn, NP_001310924.1:p.His19Asn, NP_001310930.1:p.His19Asn, NP_001310940.1:p.His19Asn, NP_001310918.1:p.His19Asn, NP_001310933.1:p.His19Asn, NP_001310923.1:p.His19Asn, NP_001310916.1:p.His19Asn

                            14.

                            rs1457198730 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              5:138887567 (GRCh38)
                              5:138223256 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:138887566:T:C
                              Gene:
                              CTNNA1 (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
                              Clinical significance:
                              likely-benign
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0.000094/2 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000005.10:g.138887567T>C, NC_000005.9:g.138223256T>C, NG_047029.1:g.139172T>C, NM_001903.5:c.1221T>C, NM_001903.4:c.1221T>C, NM_001903.3:c.1221T>C, NM_001903.2:c.1221T>C, NM_001290307.3:c.1221T>C, NM_001290307.2:c.1221T>C, NM_001290307.1:c.1221T>C, NM_001290310.3:c.852T>C, NM_001290310.2:c.852T>C, NM_001290310.1:c.852T>C, NM_001290309.3:c.912T>C, NM_001290309.2:c.912T>C, NM_001290309.1:c.912T>C, NM_001323982.2:c.1221T>C, NM_001323982.1:c.1221T>C, NM_001323984.2:c.1221T>C, NM_001323984.1:c.1221T>C, NM_001323985.2:c.1221T>C, NM_001323985.1:c.1221T>C, NM_001323986.2:c.1221T>C, NM_001323986.1:c.1221T>C, NM_001323983.1:c.1221T>C, NM_001324005.1:c.111T>C, NM_001323996.1:c.111T>C, NM_001323993.1:c.111T>C, NM_001323998.1:c.111T>C, NM_001323999.1:c.111T>C, NM_001324003.1:c.111T>C, NM_001324007.1:c.-287T>C, NM_001323990.1:c.111T>C, NM_001323991.1:c.111T>C, NM_001324000.1:c.111T>C, NM_001324002.1:c.111T>C, NM_001324009.1:c.-287T>C, NM_001324013.1:c.-162T>C, NM_001290312.1:c.111T>C, NM_001324006.1:c.-287T>C, NM_001323988.1:c.111T>C, NM_001323997.1:c.111T>C, NM_001323992.1:c.111T>C, NM_001323995.1:c.111T>C, NM_001324001.1:c.111T>C, NM_001324011.1:c.111T>C, NM_001323989.1:c.111T>C, NM_001324004.1:c.111T>C, NM_001324008.1:c.-287T>C, NM_001323994.1:c.111T>C, NM_001323987.1:c.111T>C

                              15.

                              rs1456655573 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                5:138930920 (GRCh38)
                                5:138266609 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:138930919:C:T
                                Gene:
                                CTNNA1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000005.10:g.138930920C>T, NC_000005.9:g.138266609C>T, NG_047029.1:g.182525C>T, NM_001903.5:c.2283C>T, NM_001903.4:c.2283C>T, NM_001903.3:c.2283C>T, NM_001903.2:c.2283C>T, NM_001290307.3:c.2283C>T, NM_001290307.2:c.2283C>T, NM_001290307.1:c.2283C>T, NM_001290310.3:c.1914C>T, NM_001290310.2:c.1914C>T, NM_001290310.1:c.1914C>T, NM_001290309.3:c.1974C>T, NM_001290309.2:c.1974C>T, NM_001290309.1:c.1974C>T, NM_001323982.2:c.2283C>T, NM_001323982.1:c.2283C>T, NM_001323984.2:c.2283C>T, NM_001323984.1:c.2283C>T, NM_001323985.2:c.2283C>T, NM_001323985.1:c.2283C>T, NM_001323986.2:c.2190C>T, NM_001323986.1:c.2190C>T, NM_001323983.1:c.2283C>T, NM_001324005.1:c.1173C>T, NM_001323996.1:c.1173C>T, NM_001323993.1:c.1173C>T, NM_001323998.1:c.1173C>T, NM_001323999.1:c.1173C>T, NM_001324003.1:c.1173C>T, NM_001324007.1:c.834C>T, NM_001323990.1:c.1173C>T, NM_001323991.1:c.1173C>T, NM_001324000.1:c.1173C>T, NM_001324002.1:c.1173C>T, NM_001324009.1:c.834C>T, NM_001324013.1:c.930C>T, NM_001290312.1:c.1173C>T, NM_001324006.1:c.834C>T, NM_001323988.1:c.1173C>T, NM_001323997.1:c.1173C>T, NM_001323992.1:c.1173C>T, NM_001323995.1:c.1173C>T, NM_001324001.1:c.1173C>T, NM_001324011.1:c.1080C>T, NM_001323989.1:c.1173C>T, NM_001324004.1:c.1173C>T, NM_001324008.1:c.834C>T, NM_001323994.1:c.1173C>T, NM_001323987.1:c.1173C>T, NM_001324012.1:c.930C>T, NM_001324010.1:c.834C>T

                                16.

                                rs1455520969 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  5:138925399 (GRCh38)
                                  5:138261088 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:138925398:A:G
                                  Gene:
                                  CTNNA1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000005.10:g.138925399A>G, NC_000005.9:g.138261088A>G, NG_047029.1:g.177004A>G, NM_001903.5:c.1891A>G, NM_001903.4:c.1891A>G, NM_001903.3:c.1891A>G, NM_001903.2:c.1891A>G, NM_001290307.3:c.1891A>G, NM_001290307.2:c.1891A>G, NM_001290307.1:c.1891A>G, NM_001290310.3:c.1522A>G, NM_001290310.2:c.1522A>G, NM_001290310.1:c.1522A>G, NM_001290309.3:c.1582A>G, NM_001290309.2:c.1582A>G, NM_001290309.1:c.1582A>G, NM_001323982.2:c.1891A>G, NM_001323982.1:c.1891A>G, NM_001323984.2:c.1891A>G, NM_001323984.1:c.1891A>G, NM_001323985.2:c.1891A>G, NM_001323985.1:c.1891A>G, NM_001323986.2:c.1798A>G, NM_001323986.1:c.1798A>G, NM_001323983.1:c.1891A>G, NM_001324005.1:c.781A>G, NM_001323996.1:c.781A>G, NM_001323993.1:c.781A>G, NM_001323998.1:c.781A>G, NM_001323999.1:c.781A>G, NM_001324003.1:c.781A>G, NM_001324007.1:c.442A>G, NM_001323990.1:c.781A>G, NM_001323991.1:c.781A>G, NM_001324000.1:c.781A>G, NM_001324002.1:c.781A>G, NM_001324009.1:c.442A>G, NM_001324013.1:c.538A>G, NM_001290312.1:c.781A>G, NM_001324006.1:c.442A>G, NM_001323988.1:c.781A>G, NM_001323997.1:c.781A>G, NM_001323992.1:c.781A>G, NM_001323995.1:c.781A>G, NM_001324001.1:c.781A>G, NM_001324011.1:c.688A>G, NM_001323989.1:c.781A>G, NM_001324004.1:c.781A>G, NM_001324008.1:c.442A>G, NM_001323994.1:c.781A>G, NM_001323987.1:c.781A>G, NM_001324012.1:c.538A>G, NM_001324010.1:c.442A>G, NP_001894.2:p.Met631Val, NP_001277236.1:p.Met631Val, NP_001277239.1:p.Met508Val, NP_001277238.1:p.Met528Val, NP_001310911.1:p.Met631Val, NP_001310913.1:p.Met631Val, NP_001310914.1:p.Met631Val, NP_001310915.1:p.Met600Val, NP_001310912.1:p.Met631Val, NP_001310934.1:p.Met261Val, NP_001310925.1:p.Met261Val, NP_001310922.1:p.Met261Val, NP_001310927.1:p.Met261Val, NP_001310928.1:p.Met261Val, NP_001310932.1:p.Met261Val, NP_001310936.1:p.Met148Val, NP_001310919.1:p.Met261Val, NP_001310920.1:p.Met261Val, NP_001310929.1:p.Met261Val, NP_001310931.1:p.Met261Val, NP_001310938.1:p.Met148Val, NP_001310942.1:p.Met180Val, NP_001277241.1:p.Met261Val, NP_001310935.1:p.Met148Val, NP_001310917.1:p.Met261Val, NP_001310926.1:p.Met261Val, NP_001310921.1:p.Met261Val, NP_001310924.1:p.Met261Val, NP_001310930.1:p.Met261Val, NP_001310940.1:p.Met230Val, NP_001310918.1:p.Met261Val, NP_001310933.1:p.Met261Val, NP_001310937.1:p.Met148Val, NP_001310923.1:p.Met261Val, NP_001310916.1:p.Met261Val, NP_001310941.1:p.Met180Val, NP_001310939.1:p.Met148Val

                                  17.

                                  rs1451142725 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    5:138934019 (GRCh38)
                                    5:138269708 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:138934018:G:A,NC_000005.10:138934018:G:T
                                    Gene:
                                    CTNNA1 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000005.10:g.138934019G>A, NC_000005.10:g.138934019G>T, NC_000005.9:g.138269708G>A, NC_000005.9:g.138269708G>T, NG_047029.1:g.185624G>A, NG_047029.1:g.185624G>T, NM_001903.5:c.2651G>A, NM_001903.5:c.2651G>T, NM_001903.4:c.2651G>A, NM_001903.4:c.2651G>T, NM_001903.3:c.2651G>A, NM_001903.3:c.2651G>T, NM_001903.2:c.2651G>A, NM_001903.2:c.2651G>T, NM_001290307.3:c.*196G>A, NM_001290307.3:c.*196G>T, NM_001290307.2:c.*196G>A, NM_001290307.2:c.*196G>T, NM_001290307.1:c.*196G>A, NM_001290307.1:c.*196G>T, NM_001290310.3:c.2282G>A, NM_001290310.3:c.2282G>T, NM_001290310.2:c.2282G>A, NM_001290310.2:c.2282G>T, NM_001290310.1:c.2282G>A, NM_001290310.1:c.2282G>T, NM_001290309.3:c.2342G>A, NM_001290309.3:c.2342G>T, NM_001290309.2:c.2342G>A, NM_001290309.2:c.2342G>T, NM_001290309.1:c.2342G>A, NM_001290309.1:c.2342G>T, NM_001323982.2:c.2651G>A, NM_001323982.2:c.2651G>T, NM_001323982.1:c.2651G>A, NM_001323982.1:c.2651G>T, NM_001323984.2:c.2651G>A, NM_001323984.2:c.2651G>T, NM_001323984.1:c.2651G>A, NM_001323984.1:c.2651G>T, NM_001323985.2:c.2624G>A, NM_001323985.2:c.2624G>T, NM_001323985.1:c.2624G>A, NM_001323985.1:c.2624G>T, NM_001323986.2:c.2558G>A, NM_001323986.2:c.2558G>T, NM_001323986.1:c.2558G>A, NM_001323986.1:c.2558G>T, NM_001323983.1:c.2651G>A, NM_001323983.1:c.2651G>T, NM_001324005.1:c.*196G>A, NM_001324005.1:c.*196G>T, NM_001323996.1:c.1541G>A, NM_001323996.1:c.1541G>T, NM_001323993.1:c.1541G>A, NM_001323993.1:c.1541G>T, NM_001323998.1:c.1541G>A, NM_001323998.1:c.1541G>T, NM_001323999.1:c.1541G>A, NM_001323999.1:c.1541G>T, NM_001324003.1:c.*196G>A, NM_001324003.1:c.*196G>T, NM_001324007.1:c.1202G>A, NM_001324007.1:c.1202G>T, NM_001323990.1:c.1541G>A, NM_001323990.1:c.1541G>T, NM_001323991.1:c.1541G>A, NM_001323991.1:c.1541G>T, NM_001324000.1:c.1541G>A, NM_001324000.1:c.1541G>T, NM_001324002.1:c.*196G>A, NM_001324002.1:c.*196G>T, NM_001324009.1:c.1202G>A, NM_001324009.1:c.1202G>T, NM_001324013.1:c.1298G>A, NM_001324013.1:c.1298G>T, NM_001290312.1:c.1541G>A, NM_001290312.1:c.1541G>T, NM_001324006.1:c.1202G>A, NM_001324006.1:c.1202G>T, NM_001323988.1:c.1541G>A, NM_001323988.1:c.1541G>T, NM_001323997.1:c.1541G>A, NM_001323997.1:c.1541G>T, NM_001323992.1:c.1541G>A, NM_001323992.1:c.1541G>T, NM_001323995.1:c.1541G>A, NM_001323995.1:c.1541G>T, NM_001324001.1:c.1406G>A, NM_001324001.1:c.1406G>T, NM_001324011.1:c.1448G>A, NM_001324011.1:c.1448G>T, NM_001323989.1:c.1541G>A, NM_001323989.1:c.1541G>T, NM_001324004.1:c.*196G>A, NM_001324004.1:c.*196G>T, NM_001324008.1:c.1202G>A, NM_001324008.1:c.1202G>T, NM_001323994.1:c.1541G>A, NM_001323994.1:c.1541G>T, NM_001323987.1:c.1541G>A, NM_001323987.1:c.1541G>T, NM_001324012.1:c.1298G>A, NM_001324012.1:c.1298G>T, NM_001324010.1:c.1202G>A, NM_001324010.1:c.1202G>T, NP_001894.2:p.Arg884Gln, NP_001894.2:p.Arg884Leu, NP_001277239.1:p.Arg761Gln, NP_001277239.1:p.Arg761Leu, NP_001277238.1:p.Arg781Gln, NP_001277238.1:p.Arg781Leu, NP_001310911.1:p.Arg884Gln, NP_001310911.1:p.Arg884Leu, NP_001310913.1:p.Arg884Gln, NP_001310913.1:p.Arg884Leu, NP_001310914.1:p.Arg875Gln, NP_001310914.1:p.Arg875Leu, NP_001310915.1:p.Arg853Gln, NP_001310915.1:p.Arg853Leu, NP_001310912.1:p.Arg884Gln, NP_001310912.1:p.Arg884Leu, NP_001310925.1:p.Arg514Gln, NP_001310925.1:p.Arg514Leu, NP_001310922.1:p.Arg514Gln, NP_001310922.1:p.Arg514Leu, NP_001310927.1:p.Arg514Gln, NP_001310927.1:p.Arg514Leu, NP_001310928.1:p.Arg514Gln, NP_001310928.1:p.Arg514Leu, NP_001310936.1:p.Arg401Gln, NP_001310936.1:p.Arg401Leu, NP_001310919.1:p.Arg514Gln, NP_001310919.1:p.Arg514Leu, NP_001310920.1:p.Arg514Gln, NP_001310920.1:p.Arg514Leu, NP_001310929.1:p.Arg514Gln, NP_001310929.1:p.Arg514Leu, NP_001310938.1:p.Arg401Gln, NP_001310938.1:p.Arg401Leu, NP_001310942.1:p.Arg433Gln, NP_001310942.1:p.Arg433Leu, NP_001277241.1:p.Arg514Gln, NP_001277241.1:p.Arg514Leu, NP_001310935.1:p.Arg401Gln, NP_001310935.1:p.Arg401Leu, NP_001310917.1:p.Arg514Gln, NP_001310917.1:p.Arg514Leu, NP_001310926.1:p.Arg514Gln, NP_001310926.1:p.Arg514Leu, NP_001310921.1:p.Arg514Gln, NP_001310921.1:p.Arg514Leu, NP_001310924.1:p.Arg514Gln, NP_001310924.1:p.Arg514Leu, NP_001310930.1:p.Arg469Gln, NP_001310930.1:p.Arg469Leu, NP_001310940.1:p.Arg483Gln, NP_001310940.1:p.Arg483Leu, NP_001310918.1:p.Arg514Gln, NP_001310918.1:p.Arg514Leu, NP_001310937.1:p.Arg401Gln, NP_001310937.1:p.Arg401Leu, NP_001310923.1:p.Arg514Gln, NP_001310923.1:p.Arg514Leu, NP_001310916.1:p.Arg514Gln, NP_001310916.1:p.Arg514Leu, NP_001310941.1:p.Arg433Gln, NP_001310941.1:p.Arg433Leu, NP_001310939.1:p.Arg401Gln, NP_001310939.1:p.Arg401Leu

                                    18.

                                    rs1445637127 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      5:138917822 (GRCh38)
                                      5:138253511 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:138917821:A:G
                                      Gene:
                                      CTNNA1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Clinical significance:
                                      likely-benign
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000447/2 (ALFA)
                                      G=0.000014/2 (GnomAD)
                                      G=0.000446/2 (Estonian)
                                      HGVS:
                                      NC_000005.10:g.138917822A>G, NC_000005.9:g.138253511A>G, NG_047029.1:g.169427A>G, NM_001903.5:c.1470A>G, NM_001903.4:c.1470A>G, NM_001903.3:c.1470A>G, NM_001903.2:c.1470A>G, NM_001290307.3:c.1470A>G, NM_001290307.2:c.1470A>G, NM_001290307.1:c.1470A>G, NM_001290310.3:c.1101A>G, NM_001290310.2:c.1101A>G, NM_001290310.1:c.1101A>G, NM_001290309.3:c.1161A>G, NM_001290309.2:c.1161A>G, NM_001290309.1:c.1161A>G, NM_001323982.2:c.1470A>G, NM_001323982.1:c.1470A>G, NM_001323984.2:c.1470A>G, NM_001323984.1:c.1470A>G, NM_001323985.2:c.1470A>G, NM_001323985.1:c.1470A>G, NM_001323986.2:c.1377A>G, NM_001323986.1:c.1377A>G, NM_001323983.1:c.1470A>G, NM_001324005.1:c.360A>G, NM_001323996.1:c.360A>G, NM_001323993.1:c.360A>G, NM_001323998.1:c.360A>G, NM_001323999.1:c.360A>G, NM_001324003.1:c.360A>G, NM_001324007.1:c.21A>G, NM_001323990.1:c.360A>G, NM_001323991.1:c.360A>G, NM_001324000.1:c.360A>G, NM_001324002.1:c.360A>G, NM_001324009.1:c.21A>G, NM_001324013.1:c.117A>G, NM_001290312.1:c.360A>G, NM_001324006.1:c.21A>G, NM_001323988.1:c.360A>G, NM_001323997.1:c.360A>G, NM_001323992.1:c.360A>G, NM_001323995.1:c.360A>G, NM_001324001.1:c.360A>G, NM_001324011.1:c.267A>G, NM_001323989.1:c.360A>G, NM_001324004.1:c.360A>G, NM_001324008.1:c.21A>G, NM_001323994.1:c.360A>G, NM_001323987.1:c.360A>G, NM_001324012.1:c.117A>G, NM_001324010.1:c.21A>G

                                      19.

                                      rs1438561310 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        5:138924706 (GRCh38)
                                        5:138260395 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:138924705:C:T
                                        Gene:
                                        CTNNA1 (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=0.000006/1 (GnomAD_exomes)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000015/4 (TOPMED)
                                        HGVS:
                                        NC_000005.10:g.138924706C>T, NC_000005.9:g.138260395C>T, NG_047029.1:g.176311C>T, NM_001903.5:c.1743C>T, NM_001903.4:c.1743C>T, NM_001903.3:c.1743C>T, NM_001903.2:c.1743C>T, NM_001290307.3:c.1743C>T, NM_001290307.2:c.1743C>T, NM_001290307.1:c.1743C>T, NM_001290310.3:c.1374C>T, NM_001290310.2:c.1374C>T, NM_001290310.1:c.1374C>T, NM_001290309.3:c.1434C>T, NM_001290309.2:c.1434C>T, NM_001290309.1:c.1434C>T, NM_001323982.2:c.1743C>T, NM_001323982.1:c.1743C>T, NM_001323984.2:c.1743C>T, NM_001323984.1:c.1743C>T, NM_001323985.2:c.1743C>T, NM_001323985.1:c.1743C>T, NM_001323986.2:c.1650C>T, NM_001323986.1:c.1650C>T, NM_001323983.1:c.1743C>T, NM_001324005.1:c.633C>T, NM_001323996.1:c.633C>T, NM_001323993.1:c.633C>T, NM_001323998.1:c.633C>T, NM_001323999.1:c.633C>T, NM_001324003.1:c.633C>T, NM_001324007.1:c.294C>T, NM_001323990.1:c.633C>T, NM_001323991.1:c.633C>T, NM_001324000.1:c.633C>T, NM_001324002.1:c.633C>T, NM_001324009.1:c.294C>T, NM_001324013.1:c.390C>T, NM_001290312.1:c.633C>T, NM_001324006.1:c.294C>T, NM_001323988.1:c.633C>T, NM_001323997.1:c.633C>T, NM_001323992.1:c.633C>T, NM_001323995.1:c.633C>T, NM_001324001.1:c.633C>T, NM_001324011.1:c.540C>T, NM_001323989.1:c.633C>T, NM_001324004.1:c.633C>T, NM_001324008.1:c.294C>T, NM_001323994.1:c.633C>T, NM_001323987.1:c.633C>T, NM_001324012.1:c.390C>T, NM_001324010.1:c.294C>T

                                        20.

                                        rs1436564545 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          5:138933990 (GRCh38)
                                          5:138269679 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:138933989:A:G
                                          Gene:
                                          CTNNA1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
                                          Clinical significance:
                                          likely-benign
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000342/1 (KOREAN)
                                          HGVS:
                                          NC_000005.10:g.138933990A>G, NC_000005.9:g.138269679A>G, NG_047029.1:g.185595A>G, NM_001903.5:c.2622A>G, NM_001903.4:c.2622A>G, NM_001903.3:c.2622A>G, NM_001903.2:c.2622A>G, NM_001290307.3:c.*167A>G, NM_001290307.2:c.*167A>G, NM_001290307.1:c.*167A>G, NM_001290310.3:c.2253A>G, NM_001290310.2:c.2253A>G, NM_001290310.1:c.2253A>G, NM_001290309.3:c.2313A>G, NM_001290309.2:c.2313A>G, NM_001290309.1:c.2313A>G, NM_001323982.2:c.2622A>G, NM_001323982.1:c.2622A>G, NM_001323984.2:c.2622A>G, NM_001323984.1:c.2622A>G, NM_001323985.2:c.2595A>G, NM_001323985.1:c.2595A>G, NM_001323986.2:c.2529A>G, NM_001323986.1:c.2529A>G, NM_001323983.1:c.2622A>G, NM_001324005.1:c.*167A>G, NM_001323996.1:c.1512A>G, NM_001323993.1:c.1512A>G, NM_001323998.1:c.1512A>G, NM_001323999.1:c.1512A>G, NM_001324003.1:c.*167A>G, NM_001324007.1:c.1173A>G, NM_001323990.1:c.1512A>G, NM_001323991.1:c.1512A>G, NM_001324000.1:c.1512A>G, NM_001324002.1:c.*167A>G, NM_001324009.1:c.1173A>G, NM_001324013.1:c.1269A>G, NM_001290312.1:c.1512A>G, NM_001324006.1:c.1173A>G, NM_001323988.1:c.1512A>G, NM_001323997.1:c.1512A>G, NM_001323992.1:c.1512A>G, NM_001323995.1:c.1512A>G, NM_001324001.1:c.1377A>G, NM_001324011.1:c.1419A>G, NM_001323989.1:c.1512A>G, NM_001324004.1:c.*167A>G, NM_001324008.1:c.1173A>G, NM_001323994.1:c.1512A>G, NM_001323987.1:c.1512A>G, NM_001324012.1:c.1269A>G, NM_001324010.1:c.1173A>G

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