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 Nucleotide

Items: 1 to 20 of 842

1.

rs1491185065 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GT>- [Show Flanks]
    Chromosome:
    5:138934854 (GRCh38)
    5:138270543 (GRCh37)
    Canonical SPDI:
    NC_000005.10:138934851:GTGT:GT
    Gene:
    CTNNA1 (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GTGT=0./0 (ALFA)
    -=0.000011/3 (TOPMED)
    -=0.000021/3 (GnomAD)
    HGVS:
    NC_000005.10:g.138934852GT[1], NC_000005.9:g.138270541GT[1], NG_047029.1:g.186457GT[1], NM_001903.5:c.*763GT[1], NM_001903.4:c.*763GT[1], NM_001903.3:c.*763GT[1], NM_001903.2:c.*763GT[1], NM_001290307.3:c.*1029GT[1], NM_001290307.2:c.*1029GT[1], NM_001290307.1:c.*1029GT[1], NM_001290310.3:c.*763GT[1], NM_001290310.2:c.*763GT[1], NM_001290310.1:c.*763GT[1], NM_001290309.3:c.*763GT[1], NM_001290309.2:c.*763GT[1], NM_001290309.1:c.*763GT[1], NM_001323982.2:c.*763GT[1], NM_001323982.1:c.*763GT[1], NM_001323984.2:c.*763GT[1], NM_001323984.1:c.*763GT[1], NM_001323985.2:c.*763GT[1], NM_001323985.1:c.*763GT[1], NM_001323986.2:c.*763GT[1], NM_001323986.1:c.*763GT[1], NM_001323983.1:c.*763GT[1], NM_001324005.1:c.*1029GT[1], NM_001323996.1:c.*763GT[1], NM_001323993.1:c.*763GT[1], NM_001323998.1:c.*763GT[1], NM_001323999.1:c.*763GT[1], NM_001324003.1:c.*1029GT[1], NM_001324007.1:c.*763GT[1], NM_001323990.1:c.*763GT[1], NM_001323991.1:c.*763GT[1], NM_001324000.1:c.*763GT[1], NM_001324002.1:c.*1029GT[1], NM_001324009.1:c.*763GT[1], NM_001324013.1:c.*763GT[1], NM_001290312.1:c.*763GT[1], NM_001324006.1:c.*763GT[1], NM_001323988.1:c.*763GT[1], NM_001323997.1:c.*763GT[1], NM_001323992.1:c.*763GT[1], NM_001323995.1:c.*763GT[1], NM_001324001.1:c.*763GT[1], NM_001324011.1:c.*763GT[1], NM_001323989.1:c.*763GT[1], NM_001324004.1:c.*1029GT[1], NM_001324008.1:c.*763GT[1], NM_001323994.1:c.*763GT[1], NM_001323987.1:c.*763GT[1], NM_001324012.1:c.*763GT[1], NM_001324010.1:c.*763GT[1]

    2.

    rs1491129111 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->TTTG [Show Flanks]
      Chromosome:
      5:138934852 (GRCh38)
      5:138270542 (GRCh37)
      Canonical SPDI:
      NC_000005.10:138934852:TGTTTG:TGTTTGTTTG
      Gene:
      CTNNA1 (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TGTTTGTTTG=0./0 (ALFA)
      TGTT=0.000004/1 (TOPMED)
      TGTT=0.000007/1 (GnomAD)
      TGTT=0.000071/1 (TOMMO)
      TGTT=0.001092/2 (Korea1K)
      HGVS:
      NC_000005.10:g.138934855_138934858dup, NC_000005.9:g.138270544_138270547dup, NG_047029.1:g.186460_186463dup, NM_001903.5:c.*766_*769dup, NM_001903.4:c.*766_*769dup, NM_001903.3:c.*766_*769dup, NM_001903.2:c.*766_*769dup, NM_001290307.3:c.*1032_*1035dup, NM_001290307.2:c.*1032_*1035dup, NM_001290307.1:c.*1032_*1035dup, NM_001290310.3:c.*766_*769dup, NM_001290310.2:c.*766_*769dup, NM_001290310.1:c.*766_*769dup, NM_001290309.3:c.*766_*769dup, NM_001290309.2:c.*766_*769dup, NM_001290309.1:c.*766_*769dup, NM_001323982.2:c.*766_*769dup, NM_001323982.1:c.*766_*769dup, NM_001323984.2:c.*766_*769dup, NM_001323984.1:c.*766_*769dup, NM_001323985.2:c.*766_*769dup, NM_001323985.1:c.*766_*769dup, NM_001323986.2:c.*766_*769dup, NM_001323986.1:c.*766_*769dup, NM_001323983.1:c.*766_*769dup, NM_001324005.1:c.*1032_*1035dup, NM_001323996.1:c.*766_*769dup, NM_001323993.1:c.*766_*769dup, NM_001323998.1:c.*766_*769dup, NM_001323999.1:c.*766_*769dup, NM_001324003.1:c.*1032_*1035dup, NM_001324007.1:c.*766_*769dup, NM_001323990.1:c.*766_*769dup, NM_001323991.1:c.*766_*769dup, NM_001324000.1:c.*766_*769dup, NM_001324002.1:c.*1032_*1035dup, NM_001324009.1:c.*766_*769dup, NM_001324013.1:c.*766_*769dup, NM_001290312.1:c.*766_*769dup, NM_001324006.1:c.*766_*769dup, NM_001323988.1:c.*766_*769dup, NM_001323997.1:c.*766_*769dup, NM_001323992.1:c.*766_*769dup, NM_001323995.1:c.*766_*769dup, NM_001324001.1:c.*766_*769dup, NM_001324011.1:c.*766_*769dup, NM_001323989.1:c.*766_*769dup, NM_001324004.1:c.*1032_*1035dup, NM_001324008.1:c.*766_*769dup, NM_001323994.1:c.*766_*769dup, NM_001323987.1:c.*766_*769dup, NM_001324012.1:c.*766_*769dup, NM_001324010.1:c.*766_*769dup

      3.

      rs1486215226 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        5:138880688 (GRCh38)
        5:138216377 (GRCh37)
        Canonical SPDI:
        NC_000005.10:138880687:A:G
        Gene:
        CTNNA1 (Varview)
        Functional Consequence:
        5_prime_UTR_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:

        4.

        rs1484881227 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          5:138875551 (GRCh38)
          5:138211240 (GRCh37)
          Canonical SPDI:
          NC_000005.10:138875550:C:T
          Gene:
          CTNNA1 (Varview), LRRTM2 (Varview)
          Functional Consequence:
          5_prime_UTR_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000071/1 (ALFA)
          T=0.000007/1 (GnomAD)
          T=0.000019/5 (TOPMED)
          HGVS:
          NC_000005.10:g.138875551C>T, NC_000005.9:g.138211240C>T, NG_047029.1:g.127156C>T, NM_001324005.1:c.-460C>T, NM_001323996.1:c.-484C>T, NM_001323993.1:c.-479C>T, NM_001323998.1:c.-460C>T, NM_001323999.1:c.-457C>T, NM_001324003.1:c.-385C>T, NM_001324007.1:c.-782C>T, NM_001323990.1:c.-385C>T, NM_001323991.1:c.-332C>T, NM_001324000.1:c.-329C>T, NM_001324002.1:c.-236C>T, NM_001324009.1:c.-633C>T, NM_001324013.1:c.-508C>T, NM_001290312.1:c.-236C>T, NM_001324006.1:c.-716C>T, NM_001323988.1:c.-343C>T, NM_001323997.1:c.-338C>T, NM_001323992.1:c.-335C>T, NM_001323995.1:c.-319C>T, NM_001324001.1:c.-236C>T, NM_001324011.1:c.-319C>T, NM_001323989.1:c.-191C>T, NM_001324004.1:c.-95C>T, NM_001324008.1:c.-492C>T, NM_001323994.1:c.-104C>T, NM_001323987.1:c.-95C>T, NM_001324012.1:c.-104C>T, NM_001324010.1:c.-107C>T

          5.

          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

            6.

            rs1482518645 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              5:138934779 (GRCh38)
              5:138270468 (GRCh37)
              Canonical SPDI:
              NC_000005.10:138934778:C:T
              Gene:
              CTNNA1 (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000005.10:g.138934779C>T, NC_000005.9:g.138270468C>T, NG_047029.1:g.186384C>T, NM_001903.5:c.*690C>T, NM_001903.4:c.*690C>T, NM_001903.3:c.*690C>T, NM_001903.2:c.*690C>T, NM_001290307.3:c.*956C>T, NM_001290307.2:c.*956C>T, NM_001290307.1:c.*956C>T, NM_001290310.3:c.*690C>T, NM_001290310.2:c.*690C>T, NM_001290310.1:c.*690C>T, NM_001290309.3:c.*690C>T, NM_001290309.2:c.*690C>T, NM_001290309.1:c.*690C>T, NM_001323982.2:c.*690C>T, NM_001323982.1:c.*690C>T, NM_001323984.2:c.*690C>T, NM_001323984.1:c.*690C>T, NM_001323985.2:c.*690C>T, NM_001323985.1:c.*690C>T, NM_001323986.2:c.*690C>T, NM_001323986.1:c.*690C>T, NM_001323983.1:c.*690C>T, NM_001324005.1:c.*956C>T, NM_001323996.1:c.*690C>T, NM_001323993.1:c.*690C>T, NM_001323998.1:c.*690C>T, NM_001323999.1:c.*690C>T, NM_001324003.1:c.*956C>T, NM_001324007.1:c.*690C>T, NM_001323990.1:c.*690C>T, NM_001323991.1:c.*690C>T, NM_001324000.1:c.*690C>T, NM_001324002.1:c.*956C>T, NM_001324009.1:c.*690C>T, NM_001324013.1:c.*690C>T, NM_001290312.1:c.*690C>T, NM_001324006.1:c.*690C>T, NM_001323988.1:c.*690C>T, NM_001323997.1:c.*690C>T, NM_001323992.1:c.*690C>T, NM_001323995.1:c.*690C>T, NM_001324001.1:c.*690C>T, NM_001324011.1:c.*690C>T, NM_001323989.1:c.*690C>T, NM_001324004.1:c.*956C>T, NM_001324008.1:c.*690C>T, NM_001323994.1:c.*690C>T, NM_001323987.1:c.*690C>T, NM_001324012.1:c.*690C>T, NM_001324010.1:c.*690C>T

              7.

              rs1480316517 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                5:138875382 (GRCh38)
                5:138211071 (GRCh37)
                Canonical SPDI:
                NC_000005.10:138875381:C:T
                Gene:
                CTNNA1 (Varview), LRRTM2 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000008/2 (TOPMED)
                HGVS:

                8.

                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

                  9.

                  rs1477120015 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    5:138934172 (GRCh38)
                    5:138269861 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:138934171:C:T
                    Gene:
                    CTNNA1 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000005.10:g.138934172C>T, NC_000005.9:g.138269861C>T, NG_047029.1:g.185777C>T, NM_001903.5:c.*83C>T, NM_001903.4:c.*83C>T, NM_001903.3:c.*83C>T, NM_001903.2:c.*83C>T, NM_001290307.3:c.*349C>T, NM_001290307.2:c.*349C>T, NM_001290307.1:c.*349C>T, NM_001290310.3:c.*83C>T, NM_001290310.2:c.*83C>T, NM_001290310.1:c.*83C>T, NM_001290309.3:c.*83C>T, NM_001290309.2:c.*83C>T, NM_001290309.1:c.*83C>T, NM_001323982.2:c.*83C>T, NM_001323982.1:c.*83C>T, NM_001323984.2:c.*83C>T, NM_001323984.1:c.*83C>T, NM_001323985.2:c.*83C>T, NM_001323985.1:c.*83C>T, NM_001323986.2:c.*83C>T, NM_001323986.1:c.*83C>T, NM_001323983.1:c.*83C>T, NM_001324005.1:c.*349C>T, NM_001323996.1:c.*83C>T, NM_001323993.1:c.*83C>T, NM_001323998.1:c.*83C>T, NM_001323999.1:c.*83C>T, NM_001324003.1:c.*349C>T, NM_001324007.1:c.*83C>T, NM_001323990.1:c.*83C>T, NM_001323991.1:c.*83C>T, NM_001324000.1:c.*83C>T, NM_001324002.1:c.*349C>T, NM_001324009.1:c.*83C>T, NM_001324013.1:c.*83C>T, NM_001290312.1:c.*83C>T, NM_001324006.1:c.*83C>T, NM_001323988.1:c.*83C>T, NM_001323997.1:c.*83C>T, NM_001323992.1:c.*83C>T, NM_001323995.1:c.*83C>T, NM_001324001.1:c.*83C>T, NM_001324011.1:c.*83C>T, NM_001323989.1:c.*83C>T, NM_001324004.1:c.*349C>T, NM_001324008.1:c.*83C>T, NM_001323994.1:c.*83C>T, NM_001323987.1:c.*83C>T, NM_001324012.1:c.*83C>T, NM_001324010.1:c.*83C>T

                    10.

                    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

                      11.

                      rs1476636120 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        5:138875591 (GRCh38)
                        5:138211280 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:138875590:C:T
                        Gene:
                        CTNNA1 (Varview), LRRTM2 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,intron_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000005.10:g.138875591C>T, NC_000005.9:g.138211280C>T, NG_047029.1:g.127196C>T, NM_001324005.1:c.-420C>T, NM_001323996.1:c.-444C>T, NM_001323993.1:c.-439C>T, NM_001323998.1:c.-420C>T, NM_001323999.1:c.-417C>T, NM_001324003.1:c.-345C>T, NM_001324007.1:c.-742C>T, NM_001323990.1:c.-345C>T, NM_001323991.1:c.-292C>T, NM_001324000.1:c.-289C>T, NM_001324002.1:c.-196C>T, NM_001324009.1:c.-593C>T, NM_001324013.1:c.-468C>T, NM_001290312.1:c.-196C>T, NM_001324006.1:c.-676C>T, NM_001323988.1:c.-303C>T, NM_001323997.1:c.-298C>T, NM_001323992.1:c.-295C>T, NM_001323995.1:c.-279C>T, NM_001324001.1:c.-196C>T, NM_001324011.1:c.-279C>T, NM_001323989.1:c.-151C>T, NM_001324004.1:c.-55C>T, NM_001324008.1:c.-452C>T, NM_001323994.1:c.-64C>T, NM_001323987.1:c.-55C>T, NM_001324012.1:c.-64C>T, NM_001324010.1:c.-67C>T

                        12.

                        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

                          13.

                          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

                            14.

                            rs1474447704 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              5:138875318 (GRCh38)
                              5:138211007 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:138875317:G:A,NC_000005.10:138875317:G:C
                              Gene:
                              CTNNA1 (Varview), LRRTM2 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              HGVS:
                              NC_000005.10:g.138875318G>A, NC_000005.10:g.138875318G>C, NC_000005.9:g.138211007G>A, NC_000005.9:g.138211007G>C, NG_047029.1:g.126923G>A, NG_047029.1:g.126923G>C, NM_001324005.1:c.-693G>A, NM_001324005.1:c.-693G>C, NM_001323996.1:c.-717G>A, NM_001323996.1:c.-717G>C, NM_001323993.1:c.-712G>A, NM_001323993.1:c.-712G>C, NM_001323998.1:c.-693G>A, NM_001323998.1:c.-693G>C, NM_001323999.1:c.-690G>A, NM_001323999.1:c.-690G>C, NM_001324003.1:c.-618G>A, NM_001324003.1:c.-618G>C, NM_001324007.1:c.-1015G>A, NM_001324007.1:c.-1015G>C, NM_001323990.1:c.-618G>A, NM_001323990.1:c.-618G>C, NM_001323991.1:c.-565G>A, NM_001323991.1:c.-565G>C, NM_001324000.1:c.-562G>A, NM_001324000.1:c.-562G>C, NM_001324002.1:c.-469G>A, NM_001324002.1:c.-469G>C, NM_001324009.1:c.-866G>A, NM_001324009.1:c.-866G>C, NM_001324013.1:c.-741G>A, NM_001324013.1:c.-741G>C, NM_001290312.1:c.-469G>A, NM_001290312.1:c.-469G>C, NM_001324001.1:c.-469G>A, NM_001324001.1:c.-469G>C, NM_015564.3:c.-407C>T, NM_015564.3:c.-407C>G, NM_015564.2:c.-407C>T, NM_015564.2:c.-407C>G

                              15.

                              rs1473564325 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->AAGA [Show Flanks]
                                Chromosome:
                                5:138934336 (GRCh38)
                                5:138270026 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:138934336:AAAGA:AAAGAAAGA
                                Gene:
                                CTNNA1 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAGAAAGA=0.000071/1 (ALFA)
                                AAAG=0.000043/6 (GnomAD)
                                AAAG=0.000068/18 (TOPMED)
                                HGVS:
                                NC_000005.10:g.138934338_138934341dup, NC_000005.9:g.138270027_138270030dup, NG_047029.1:g.185943_185946dup, NM_001903.5:c.*249_*252dup, NM_001903.4:c.*249_*252dup, NM_001903.3:c.*249_*252dup, NM_001903.2:c.*249_*252dup, NM_001290307.3:c.*515_*518dup, NM_001290307.2:c.*515_*518dup, NM_001290307.1:c.*515_*518dup, NM_001290310.3:c.*249_*252dup, NM_001290310.2:c.*249_*252dup, NM_001290310.1:c.*249_*252dup, NM_001290309.3:c.*249_*252dup, NM_001290309.2:c.*249_*252dup, NM_001290309.1:c.*249_*252dup, NM_001323982.2:c.*249_*252dup, NM_001323982.1:c.*249_*252dup, NM_001323984.2:c.*249_*252dup, NM_001323984.1:c.*249_*252dup, NM_001323985.2:c.*249_*252dup, NM_001323985.1:c.*249_*252dup, NM_001323986.2:c.*249_*252dup, NM_001323986.1:c.*249_*252dup, NM_001323983.1:c.*249_*252dup, NM_001324005.1:c.*515_*518dup, NM_001323996.1:c.*249_*252dup, NM_001323993.1:c.*249_*252dup, NM_001323998.1:c.*249_*252dup, NM_001323999.1:c.*249_*252dup, NM_001324003.1:c.*515_*518dup, NM_001324007.1:c.*249_*252dup, NM_001323990.1:c.*249_*252dup, NM_001323991.1:c.*249_*252dup, NM_001324000.1:c.*249_*252dup, NM_001324002.1:c.*515_*518dup, NM_001324009.1:c.*249_*252dup, NM_001324013.1:c.*249_*252dup, NM_001290312.1:c.*249_*252dup, NM_001324006.1:c.*249_*252dup, NM_001323988.1:c.*249_*252dup, NM_001323997.1:c.*249_*252dup, NM_001323992.1:c.*249_*252dup, NM_001323995.1:c.*249_*252dup, NM_001324001.1:c.*249_*252dup, NM_001324011.1:c.*249_*252dup, NM_001323989.1:c.*249_*252dup, NM_001324004.1:c.*515_*518dup, NM_001324008.1:c.*249_*252dup, NM_001323994.1:c.*249_*252dup, NM_001323987.1:c.*249_*252dup, NM_001324012.1:c.*249_*252dup, NM_001324010.1:c.*249_*252dup

                                16.

                                rs1472561624 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  5:138881085 (GRCh38)
                                  5:138216774 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:138881084:C:T
                                  Gene:
                                  CTNNA1 (Varview)
                                  Functional Consequence:
                                  intron_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000014/2 (GnomAD)
                                  HGVS:

                                  17.

                                  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

                                    18.

                                    rs1470295351 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      5:138934942 (GRCh38)
                                      5:138270631 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:138934941:T:A
                                      Gene:
                                      CTNNA1 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000005.10:g.138934942T>A, NC_000005.9:g.138270631T>A, NG_047029.1:g.186547T>A, NM_001903.5:c.*853T>A, NM_001903.4:c.*853T>A, NM_001903.3:c.*853T>A, NM_001903.2:c.*853T>A, NM_001290307.3:c.*1119T>A, NM_001290307.2:c.*1119T>A, NM_001290307.1:c.*1119T>A, NM_001290310.3:c.*853T>A, NM_001290310.2:c.*853T>A, NM_001290310.1:c.*853T>A, NM_001290309.3:c.*853T>A, NM_001290309.2:c.*853T>A, NM_001290309.1:c.*853T>A, NM_001323982.2:c.*853T>A, NM_001323982.1:c.*853T>A, NM_001323984.2:c.*853T>A, NM_001323984.1:c.*853T>A, NM_001323985.2:c.*853T>A, NM_001323985.1:c.*853T>A, NM_001323986.2:c.*853T>A, NM_001323986.1:c.*853T>A, NM_001323983.1:c.*853T>A, NM_001324005.1:c.*1119T>A, NM_001323996.1:c.*853T>A, NM_001323993.1:c.*853T>A, NM_001323998.1:c.*853T>A, NM_001323999.1:c.*853T>A, NM_001324003.1:c.*1119T>A, NM_001324007.1:c.*853T>A, NM_001323990.1:c.*853T>A, NM_001323991.1:c.*853T>A, NM_001324000.1:c.*853T>A, NM_001324002.1:c.*1119T>A, NM_001324009.1:c.*853T>A, NM_001324013.1:c.*853T>A, NM_001290312.1:c.*853T>A, NM_001324006.1:c.*853T>A, NM_001323988.1:c.*853T>A, NM_001323997.1:c.*853T>A, NM_001323992.1:c.*853T>A, NM_001323995.1:c.*853T>A, NM_001324001.1:c.*853T>A, NM_001324011.1:c.*853T>A, NM_001323989.1:c.*853T>A, NM_001324004.1:c.*1119T>A, NM_001324008.1:c.*853T>A, NM_001323994.1:c.*853T>A, NM_001323987.1:c.*853T>A, NM_001324012.1:c.*853T>A, NM_001324010.1:c.*853T>A

                                      19.

                                      rs1469958089 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        5:138934369 (GRCh38)
                                        5:138270058 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:138934368:C:T
                                        Gene:
                                        CTNNA1 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        HGVS:
                                        NC_000005.10:g.138934369C>T, NC_000005.9:g.138270058C>T, NG_047029.1:g.185974C>T, NM_001903.5:c.*280C>T, NM_001903.4:c.*280C>T, NM_001903.3:c.*280C>T, NM_001903.2:c.*280C>T, NM_001290307.3:c.*546C>T, NM_001290307.2:c.*546C>T, NM_001290307.1:c.*546C>T, NM_001290310.3:c.*280C>T, NM_001290310.2:c.*280C>T, NM_001290310.1:c.*280C>T, NM_001290309.3:c.*280C>T, NM_001290309.2:c.*280C>T, NM_001290309.1:c.*280C>T, NM_001323982.2:c.*280C>T, NM_001323982.1:c.*280C>T, NM_001323984.2:c.*280C>T, NM_001323984.1:c.*280C>T, NM_001323985.2:c.*280C>T, NM_001323985.1:c.*280C>T, NM_001323986.2:c.*280C>T, NM_001323986.1:c.*280C>T, NM_001323983.1:c.*280C>T, NM_001324005.1:c.*546C>T, NM_001323996.1:c.*280C>T, NM_001323993.1:c.*280C>T, NM_001323998.1:c.*280C>T, NM_001323999.1:c.*280C>T, NM_001324003.1:c.*546C>T, NM_001324007.1:c.*280C>T, NM_001323990.1:c.*280C>T, NM_001323991.1:c.*280C>T, NM_001324000.1:c.*280C>T, NM_001324002.1:c.*546C>T, NM_001324009.1:c.*280C>T, NM_001324013.1:c.*280C>T, NM_001290312.1:c.*280C>T, NM_001324006.1:c.*280C>T, NM_001323988.1:c.*280C>T, NM_001323997.1:c.*280C>T, NM_001323992.1:c.*280C>T, NM_001323995.1:c.*280C>T, NM_001324001.1:c.*280C>T, NM_001324011.1:c.*280C>T, NM_001323989.1:c.*280C>T, NM_001324004.1:c.*546C>T, NM_001324008.1:c.*280C>T, NM_001323994.1:c.*280C>T, NM_001323987.1:c.*280C>T, NM_001324012.1:c.*280C>T, NM_001324010.1:c.*280C>T

                                        20.

                                        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

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity