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Items: 1 to 20 of 491

1.

rs1488580100 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    12:69655184 (GRCh38)
    12:70048964 (GRCh37)
    Canonical SPDI:
    NC_000012.12:69655183:T:A
    Gene:
    BEST3 (Varview), LOC105369823 (Varview)
    Functional Consequence:
    intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000012.12:g.69655184T>A, NC_000012.11:g.70048964T>A, NM_152439.4:c.1091A>T, NM_152439.3:c.1091A>T, NM_152439.2:c.1091A>T, NM_032735.3:c.1730A>T, NM_032735.2:c.1730A>T, XM_011537962.3:c.1244A>T, XM_011537962.2:c.1244A>T, XM_011537962.1:c.1244A>T, XM_011537965.3:c.758A>T, XM_011537965.2:c.758A>T, XM_011537965.1:c.758A>T, NM_001282613.2:c.1412A>T, NM_001282613.1:c.1412A>T, XM_011537961.2:c.1412A>T, XM_011537961.1:c.1412A>T, XM_011537963.2:c.1244A>T, XM_011537963.1:c.1244A>T, XM_047428376.1:c.1412A>T, XM_047428378.1:c.1244A>T, XM_047428379.1:c.1244A>T, NP_689652.2:p.Asn364Ile, NP_116124.2:p.Asn577Ile, XP_011536264.1:p.Asn415Ile, XP_011536267.1:p.Asn253Ile, NP_001269542.1:p.Asn471Ile, XP_011536263.1:p.Asn471Ile, XP_011536265.1:p.Asn415Ile, XP_047284332.1:p.Asn471Ile, XP_047284334.1:p.Asn415Ile, XP_047284335.1:p.Asn415Ile

    2.

    rs1486533635 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      12:69671575 (GRCh38)
      12:70065355 (GRCh37)
      Canonical SPDI:
      NC_000012.12:69671574:G:A
      Gene:
      BEST3 (Varview), LOC105369823 (Varview)
      Functional Consequence:
      intron_variant,5_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000012.12:g.69671575G>A, NC_000012.11:g.70065355G>A, NM_152439.4:c.314C>T, NM_152439.3:c.314C>T, NM_152439.2:c.314C>T, NM_032735.3:c.953C>T, NM_032735.2:c.953C>T, XM_011537962.3:c.467C>T, XM_011537962.2:c.467C>T, XM_011537962.1:c.467C>T, XM_011537965.3:c.-20C>T, XM_011537965.2:c.-20C>T, XM_011537965.1:c.-20C>T, NM_001282613.2:c.635C>T, NM_001282613.1:c.635C>T, XM_011537961.2:c.635C>T, XM_011537961.1:c.635C>T, XM_011537963.2:c.467C>T, XM_011537963.1:c.467C>T, NM_001282614.2:c.953C>T, NM_001282614.1:c.953C>T, XM_047428376.1:c.635C>T, XM_047428378.1:c.467C>T, XM_047428379.1:c.467C>T, XM_047428380.1:c.953C>T, NP_689652.2:p.Ser105Phe, NP_116124.2:p.Ser318Phe, XP_011536264.1:p.Ser156Phe, NP_001269542.1:p.Ser212Phe, XP_011536263.1:p.Ser212Phe, XP_011536265.1:p.Ser156Phe, NP_001269543.1:p.Ser318Phe, XP_047284332.1:p.Ser212Phe, XP_047284334.1:p.Ser156Phe, XP_047284335.1:p.Ser156Phe, XP_047284336.1:p.Ser318Phe

      3.

      rs1481942561 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        G>- [Show Flanks]
        Chromosome:
        12:69671494 (GRCh38)
        12:70065274 (GRCh37)
        Canonical SPDI:
        NC_000012.12:69671493:GGG:GG
        Gene:
        BEST3 (Varview), LOC105369823 (Varview)
        Functional Consequence:
        frameshift_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        -=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000012.12:g.69671496del, NC_000012.11:g.70065276del, NM_152439.4:c.395del, NM_152439.3:c.395del, NM_152439.2:c.395del, NM_032735.3:c.1034del, NM_032735.2:c.1034del, XM_011537962.3:c.548del, XM_011537962.2:c.548del, XM_011537962.1:c.548del, XM_011537965.3:c.62del, XM_011537965.2:c.62del, XM_011537965.1:c.62del, NM_001282613.2:c.716del, NM_001282613.1:c.716del, XM_011537961.2:c.716del, XM_011537961.1:c.716del, XM_011537963.2:c.548del, XM_011537963.1:c.548del, NM_001282614.2:c.1034del, NM_001282614.1:c.1034del, XM_047428376.1:c.716del, XM_047428378.1:c.548del, XM_047428379.1:c.548del, XM_047428380.1:c.1034del, XM_047428381.1:c.*52del, NP_689652.2:p.Pro132fs, NP_116124.2:p.Pro345fs, XP_011536264.1:p.Pro183fs, XP_011536267.1:p.Pro21fs, NP_001269542.1:p.Pro239fs, XP_011536263.1:p.Pro239fs, XP_011536265.1:p.Pro183fs, NP_001269543.1:p.Pro345fs, XP_047284332.1:p.Pro239fs, XP_047284334.1:p.Pro183fs, XP_047284335.1:p.Pro183fs, XP_047284336.1:p.Pro345fs

        4.

        rs1481327336 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          12:69655046 (GRCh38)
          12:70048826 (GRCh37)
          Canonical SPDI:
          NC_000012.12:69655045:G:A
          Gene:
          BEST3 (Varview), LOC105369823 (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000012.12:g.69655046G>A, NC_000012.11:g.70048826G>A, NM_152439.4:c.1229C>T, NM_152439.3:c.1229C>T, NM_152439.2:c.1229C>T, NM_032735.3:c.1868C>T, NM_032735.2:c.1868C>T, XM_011537962.3:c.1382C>T, XM_011537962.2:c.1382C>T, XM_011537962.1:c.1382C>T, XM_011537965.3:c.896C>T, XM_011537965.2:c.896C>T, XM_011537965.1:c.896C>T, NM_001282613.2:c.1550C>T, NM_001282613.1:c.1550C>T, XM_011537961.2:c.1550C>T, XM_011537961.1:c.1550C>T, XM_011537963.2:c.1382C>T, XM_011537963.1:c.1382C>T, XM_047428376.1:c.1550C>T, XM_047428378.1:c.1382C>T, XM_047428379.1:c.1382C>T, NP_689652.2:p.Thr410Ile, NP_116124.2:p.Thr623Ile, XP_011536264.1:p.Thr461Ile, XP_011536267.1:p.Thr299Ile, NP_001269542.1:p.Thr517Ile, XP_011536263.1:p.Thr517Ile, XP_011536265.1:p.Thr461Ile, XP_047284332.1:p.Thr517Ile, XP_047284334.1:p.Thr461Ile, XP_047284335.1:p.Thr461Ile

          5.

          rs1480791639 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            12:69677202 (GRCh38)
            12:70070982 (GRCh37)
            Canonical SPDI:
            NC_000012.12:69677201:C:G
            Gene:
            BEST3 (Varview), LOC105369823 (Varview)
            Functional Consequence:
            upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_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_000012.12:g.69677202C>G, NC_000012.11:g.70070982C>G, NM_152439.4:c.206G>C, NM_152439.3:c.206G>C, NM_152439.2:c.206G>C, NM_032735.3:c.692G>C, NM_032735.2:c.692G>C, XM_011537962.3:c.206G>C, XM_011537962.2:c.206G>C, XM_011537962.1:c.206G>C, NM_001282613.2:c.374G>C, NM_001282613.1:c.374G>C, XM_011537961.2:c.374G>C, XM_011537961.1:c.374G>C, XM_011537963.2:c.206G>C, XM_011537963.1:c.206G>C, NM_001282614.2:c.692G>C, NM_001282614.1:c.692G>C, XM_047428376.1:c.374G>C, XM_047428378.1:c.206G>C, XM_047428379.1:c.206G>C, XM_047428380.1:c.692G>C, XM_047428381.1:c.692G>C, NP_689652.2:p.Gly69Ala, NP_116124.2:p.Gly231Ala, XP_011536264.1:p.Gly69Ala, NP_001269542.1:p.Gly125Ala, XP_011536263.1:p.Gly125Ala, XP_011536265.1:p.Gly69Ala, NP_001269543.1:p.Gly231Ala, XP_047284332.1:p.Gly125Ala, XP_047284334.1:p.Gly69Ala, XP_047284335.1:p.Gly69Ala, XP_047284336.1:p.Gly231Ala, XP_047284337.1:p.Gly231Ala

            6.

            rs1480268415 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              12:69655607 (GRCh38)
              12:70049387 (GRCh37)
              Canonical SPDI:
              NC_000012.12:69655606:A:C
              Gene:
              BEST3 (Varview), LOC105369823 (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              NC_000012.12:g.69655607A>C, NC_000012.11:g.70049387A>C, NM_152439.4:c.668T>G, NM_152439.3:c.668T>G, NM_152439.2:c.668T>G, NM_032735.3:c.1307T>G, NM_032735.2:c.1307T>G, XM_011537962.3:c.821T>G, XM_011537962.2:c.821T>G, XM_011537962.1:c.821T>G, XM_011537965.3:c.335T>G, XM_011537965.2:c.335T>G, XM_011537965.1:c.335T>G, NM_001282613.2:c.989T>G, NM_001282613.1:c.989T>G, XM_011537961.2:c.989T>G, XM_011537961.1:c.989T>G, XM_011537963.2:c.821T>G, XM_011537963.1:c.821T>G, XM_047428376.1:c.989T>G, XM_047428378.1:c.821T>G, XM_047428379.1:c.821T>G, NP_689652.2:p.Leu223Arg, NP_116124.2:p.Leu436Arg, XP_011536264.1:p.Leu274Arg, XP_011536267.1:p.Leu112Arg, NP_001269542.1:p.Leu330Arg, XP_011536263.1:p.Leu330Arg, XP_011536265.1:p.Leu274Arg, XP_047284332.1:p.Leu330Arg, XP_047284334.1:p.Leu274Arg, XP_047284335.1:p.Leu274Arg

              7.

              rs1479196212 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                12:69672922 (GRCh38)
                12:70066702 (GRCh37)
                Canonical SPDI:
                NC_000012.12:69672921:T:C
                Gene:
                BEST3 (Varview), LOC105369823 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000012.12:g.69672922T>C, NC_000012.11:g.70066702T>C, NM_152439.4:c.272A>G, NM_152439.3:c.272A>G, NM_152439.2:c.272A>G, NM_032735.3:c.911A>G, NM_032735.2:c.911A>G, XM_011537962.3:c.425A>G, XM_011537962.2:c.425A>G, XM_011537962.1:c.425A>G, XM_011537965.3:c.-62A>G, XM_011537965.2:c.-62A>G, XM_011537965.1:c.-62A>G, NM_001282613.2:c.593A>G, NM_001282613.1:c.593A>G, XM_011537961.2:c.593A>G, XM_011537961.1:c.593A>G, XM_011537963.2:c.425A>G, XM_011537963.1:c.425A>G, NM_001282614.2:c.911A>G, NM_001282614.1:c.911A>G, XM_047428376.1:c.593A>G, XM_047428378.1:c.425A>G, XM_047428379.1:c.425A>G, XM_047428380.1:c.911A>G, XM_047428381.1:c.911A>G, NP_689652.2:p.Asp91Gly, NP_116124.2:p.Asp304Gly, XP_011536264.1:p.Asp142Gly, NP_001269542.1:p.Asp198Gly, XP_011536263.1:p.Asp198Gly, XP_011536265.1:p.Asp142Gly, NP_001269543.1:p.Asp304Gly, XP_047284332.1:p.Asp198Gly, XP_047284334.1:p.Asp142Gly, XP_047284335.1:p.Asp142Gly, XP_047284336.1:p.Asp304Gly, XP_047284337.1:p.Asp304Gly

                8.

                rs1475566165 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C,G [Show Flanks]
                  Chromosome:
                  12:69655320 (GRCh38)
                  12:70049100 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:69655319:T:C,NC_000012.12:69655319:T:G
                  Gene:
                  BEST3 (Varview), LOC105369823 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000012.12:g.69655320T>C, NC_000012.12:g.69655320T>G, NC_000012.11:g.70049100T>C, NC_000012.11:g.70049100T>G, NM_152439.4:c.955A>G, NM_152439.4:c.955A>C, NM_152439.3:c.955A>G, NM_152439.3:c.955A>C, NM_152439.2:c.955A>G, NM_152439.2:c.955A>C, NM_032735.3:c.1594A>G, NM_032735.3:c.1594A>C, NM_032735.2:c.1594A>G, NM_032735.2:c.1594A>C, XM_011537962.3:c.1108A>G, XM_011537962.3:c.1108A>C, XM_011537962.2:c.1108A>G, XM_011537962.2:c.1108A>C, XM_011537962.1:c.1108A>G, XM_011537962.1:c.1108A>C, XM_011537965.3:c.622A>G, XM_011537965.3:c.622A>C, XM_011537965.2:c.622A>G, XM_011537965.2:c.622A>C, XM_011537965.1:c.622A>G, XM_011537965.1:c.622A>C, NM_001282613.2:c.1276A>G, NM_001282613.2:c.1276A>C, NM_001282613.1:c.1276A>G, NM_001282613.1:c.1276A>C, XM_011537961.2:c.1276A>G, XM_011537961.2:c.1276A>C, XM_011537961.1:c.1276A>G, XM_011537961.1:c.1276A>C, XM_011537963.2:c.1108A>G, XM_011537963.2:c.1108A>C, XM_011537963.1:c.1108A>G, XM_011537963.1:c.1108A>C, XM_047428376.1:c.1276A>G, XM_047428376.1:c.1276A>C, XM_047428378.1:c.1108A>G, XM_047428378.1:c.1108A>C, XM_047428379.1:c.1108A>G, XM_047428379.1:c.1108A>C, NP_689652.2:p.Thr319Ala, NP_689652.2:p.Thr319Pro, NP_116124.2:p.Thr532Ala, NP_116124.2:p.Thr532Pro, XP_011536264.1:p.Thr370Ala, XP_011536264.1:p.Thr370Pro, XP_011536267.1:p.Thr208Ala, XP_011536267.1:p.Thr208Pro, NP_001269542.1:p.Thr426Ala, NP_001269542.1:p.Thr426Pro, XP_011536263.1:p.Thr426Ala, XP_011536263.1:p.Thr426Pro, XP_011536265.1:p.Thr370Ala, XP_011536265.1:p.Thr370Pro, XP_047284332.1:p.Thr426Ala, XP_047284332.1:p.Thr426Pro, XP_047284334.1:p.Thr370Ala, XP_047284334.1:p.Thr370Pro, XP_047284335.1:p.Thr370Ala, XP_047284335.1:p.Thr370Pro

                  9.

                  rs1473474811 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    12:69678786 (GRCh38)
                    12:70072566 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:69678785:T:C
                    Gene:
                    BEST3 (Varview), LOC105369823 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000012.12:g.69678786T>C, NC_000012.11:g.70072566T>C, NM_152439.4:c.103A>G, NM_152439.3:c.103A>G, NM_152439.2:c.103A>G, NM_032735.3:c.589A>G, NM_032735.2:c.589A>G, XM_011537962.3:c.103A>G, XM_011537962.2:c.103A>G, XM_011537962.1:c.103A>G, NM_001282613.2:c.271A>G, NM_001282613.1:c.271A>G, XM_011537961.2:c.271A>G, XM_011537961.1:c.271A>G, XM_011537963.2:c.103A>G, XM_011537963.1:c.103A>G, NM_001282614.2:c.589A>G, NM_001282614.1:c.589A>G, XM_047428376.1:c.271A>G, XM_047428378.1:c.103A>G, XM_047428379.1:c.103A>G, XM_047428380.1:c.589A>G, XM_047428381.1:c.589A>G, NP_689652.2:p.Asn35Asp, NP_116124.2:p.Asn197Asp, XP_011536264.1:p.Asn35Asp, NP_001269542.1:p.Asn91Asp, XP_011536263.1:p.Asn91Asp, XP_011536265.1:p.Asn35Asp, NP_001269543.1:p.Asn197Asp, XP_047284332.1:p.Asn91Asp, XP_047284334.1:p.Asn35Asp, XP_047284335.1:p.Asn35Asp, XP_047284336.1:p.Asn197Asp, XP_047284337.1:p.Asn197Asp

                    10.

                    rs1472361285 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      12:69676949 (GRCh38)
                      12:70070729 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:69676948:G:A,NC_000012.12:69676948:G:T
                      Gene:
                      BEST3 (Varview), LOC105369823 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      T=0.000354/6 (TOMMO)
                      HGVS:
                      NC_000012.12:g.69676949G>A, NC_000012.12:g.69676949G>T, NC_000012.11:g.70070729G>A, NC_000012.11:g.70070729G>T, NM_032735.3:c.834C>T, NM_032735.3:c.834C>A, NM_032735.2:c.834C>T, NM_032735.2:c.834C>A, XM_011537962.3:c.348C>T, XM_011537962.3:c.348C>A, XM_011537962.2:c.348C>T, XM_011537962.2:c.348C>A, XM_011537962.1:c.348C>T, XM_011537962.1:c.348C>A, NM_001282613.2:c.516C>T, NM_001282613.2:c.516C>A, NM_001282613.1:c.516C>T, NM_001282613.1:c.516C>A, XM_011537961.2:c.516C>T, XM_011537961.2:c.516C>A, XM_011537961.1:c.516C>T, XM_011537961.1:c.516C>A, XM_011537963.2:c.348C>T, XM_011537963.2:c.348C>A, XM_011537963.1:c.348C>T, XM_011537963.1:c.348C>A, NM_001282614.2:c.834C>T, NM_001282614.2:c.834C>A, NM_001282614.1:c.834C>T, NM_001282614.1:c.834C>A, XM_047428376.1:c.516C>T, XM_047428376.1:c.516C>A, XM_047428378.1:c.348C>T, XM_047428378.1:c.348C>A, XM_047428379.1:c.348C>T, XM_047428379.1:c.348C>A, XM_047428380.1:c.834C>T, XM_047428380.1:c.834C>A, XM_047428381.1:c.834C>T, XM_047428381.1:c.834C>A

                      11.

                      rs1468490104 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        G>- [Show Flanks]
                        Chromosome:
                        12:69655432 (GRCh38)
                        12:70049212 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:69655431:GGGGG:GGGG
                        Gene:
                        BEST3 (Varview), LOC105369823 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,frameshift_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        GGGG=0.000224/1 (ALFA)
                        -=0.000007/1 (GnomAD)
                        -=0.000223/1 (Estonian)
                        HGVS:
                        NC_000012.12:g.69655436del, NC_000012.11:g.70049216del, NM_152439.4:c.843del, NM_152439.3:c.843del, NM_152439.2:c.843del, NM_032735.3:c.1482del, NM_032735.2:c.1482del, XM_011537962.3:c.996del, XM_011537962.2:c.996del, XM_011537962.1:c.996del, XM_011537965.3:c.510del, XM_011537965.2:c.510del, XM_011537965.1:c.510del, NM_001282613.2:c.1164del, NM_001282613.1:c.1164del, XM_011537961.2:c.1164del, XM_011537961.1:c.1164del, XM_011537963.2:c.996del, XM_011537963.1:c.996del, XM_047428376.1:c.1164del, XM_047428378.1:c.996del, XM_047428379.1:c.996del, NP_689652.2:p.Ile282fs, NP_116124.2:p.Ile495fs, XP_011536264.1:p.Ile333fs, XP_011536267.1:p.Ile171fs, NP_001269542.1:p.Ile389fs, XP_011536263.1:p.Ile389fs, XP_011536265.1:p.Ile333fs, XP_047284332.1:p.Ile389fs, XP_047284334.1:p.Ile333fs, XP_047284335.1:p.Ile333fs

                        12.

                        rs1468087856 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          12:69655375 (GRCh38)
                          12:70049155 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:69655374:G:A
                          Gene:
                          BEST3 (Varview), LOC105369823 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.000111/1 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:

                          13.

                          rs1464191638 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            12:69655644 (GRCh38)
                            12:70049424 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:69655643:A:G
                            Gene:
                            BEST3 (Varview), LOC105369823 (Varview)
                            Functional Consequence:
                            intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1462733816 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->T [Show Flanks]
                              Chromosome:
                              12:69655568 (GRCh38)
                              12:70049349 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:69655568:T:TT
                              Gene:
                              BEST3 (Varview), LOC105369823 (Varview)
                              Functional Consequence:
                              intron_variant,frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              TT=0.000071/1 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000011/3 (TOPMED)
                              HGVS:
                              NC_000012.12:g.69655569dup, NC_000012.11:g.70049349dup, NM_152439.4:c.706dup, NM_152439.3:c.706dup, NM_152439.2:c.706dup, NM_032735.3:c.1345dup, NM_032735.2:c.1345dup, XM_011537962.3:c.859dup, XM_011537962.2:c.859dup, XM_011537962.1:c.859dup, XM_011537965.3:c.373dup, XM_011537965.2:c.373dup, XM_011537965.1:c.373dup, NM_001282613.2:c.1027dup, NM_001282613.1:c.1027dup, XM_011537961.2:c.1027dup, XM_011537961.1:c.1027dup, XM_011537963.2:c.859dup, XM_011537963.1:c.859dup, XM_047428376.1:c.1027dup, XM_047428378.1:c.859dup, XM_047428379.1:c.859dup, NP_689652.2:p.Thr236fs, NP_116124.2:p.Thr449fs, XP_011536264.1:p.Thr287fs, XP_011536267.1:p.Thr125fs, NP_001269542.1:p.Thr343fs, XP_011536263.1:p.Thr343fs, XP_011536265.1:p.Thr287fs, XP_047284332.1:p.Thr343fs, XP_047284334.1:p.Thr287fs, XP_047284335.1:p.Thr287fs

                              15.

                              rs1462650288 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                12:69655343 (GRCh38)
                                12:70049123 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:69655342:G:A,NC_000012.12:69655342:G:C
                                Gene:
                                BEST3 (Varview), LOC105369823 (Varview)
                                Functional Consequence:
                                intron_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000012.12:g.69655343G>A, NC_000012.12:g.69655343G>C, NC_000012.11:g.70049123G>A, NC_000012.11:g.70049123G>C, NM_152439.4:c.932C>T, NM_152439.4:c.932C>G, NM_152439.3:c.932C>T, NM_152439.3:c.932C>G, NM_152439.2:c.932C>T, NM_152439.2:c.932C>G, NM_032735.3:c.1571C>T, NM_032735.3:c.1571C>G, NM_032735.2:c.1571C>T, NM_032735.2:c.1571C>G, XM_011537962.3:c.1085C>T, XM_011537962.3:c.1085C>G, XM_011537962.2:c.1085C>T, XM_011537962.2:c.1085C>G, XM_011537962.1:c.1085C>T, XM_011537962.1:c.1085C>G, XM_011537965.3:c.599C>T, XM_011537965.3:c.599C>G, XM_011537965.2:c.599C>T, XM_011537965.2:c.599C>G, XM_011537965.1:c.599C>T, XM_011537965.1:c.599C>G, NM_001282613.2:c.1253C>T, NM_001282613.2:c.1253C>G, NM_001282613.1:c.1253C>T, NM_001282613.1:c.1253C>G, XM_011537961.2:c.1253C>T, XM_011537961.2:c.1253C>G, XM_011537961.1:c.1253C>T, XM_011537961.1:c.1253C>G, XM_011537963.2:c.1085C>T, XM_011537963.2:c.1085C>G, XM_011537963.1:c.1085C>T, XM_011537963.1:c.1085C>G, XM_047428376.1:c.1253C>T, XM_047428376.1:c.1253C>G, XM_047428378.1:c.1085C>T, XM_047428378.1:c.1085C>G, XM_047428379.1:c.1085C>T, XM_047428379.1:c.1085C>G, NP_689652.2:p.Thr311Ile, NP_689652.2:p.Thr311Ser, NP_116124.2:p.Thr524Ile, NP_116124.2:p.Thr524Ser, XP_011536264.1:p.Thr362Ile, XP_011536264.1:p.Thr362Ser, XP_011536267.1:p.Thr200Ile, XP_011536267.1:p.Thr200Ser, NP_001269542.1:p.Thr418Ile, NP_001269542.1:p.Thr418Ser, XP_011536263.1:p.Thr418Ile, XP_011536263.1:p.Thr418Ser, XP_011536265.1:p.Thr362Ile, XP_011536265.1:p.Thr362Ser, XP_047284332.1:p.Thr418Ile, XP_047284332.1:p.Thr418Ser, XP_047284334.1:p.Thr362Ile, XP_047284334.1:p.Thr362Ser, XP_047284335.1:p.Thr362Ile, XP_047284335.1:p.Thr362Ser

                                16.

                                rs1462531581 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,G [Show Flanks]
                                  Chromosome:
                                  12:69671429 (GRCh38)
                                  12:70065209 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:69671428:C:A,NC_000012.12:69671428:C:G
                                  Gene:
                                  BEST3 (Varview), LOC105369823 (Varview)
                                  Functional Consequence:
                                  intron_variant,missense_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000083/2 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  A=0.000014/2 (GnomAD)
                                  A=0.000446/2 (Estonian)
                                  HGVS:
                                  NC_000012.12:g.69671429C>A, NC_000012.12:g.69671429C>G, NC_000012.11:g.70065209C>A, NC_000012.11:g.70065209C>G, NM_152439.4:c.460G>T, NM_152439.4:c.460G>C, NM_152439.3:c.460G>T, NM_152439.3:c.460G>C, NM_152439.2:c.460G>T, NM_152439.2:c.460G>C, NM_032735.3:c.1099G>T, NM_032735.3:c.1099G>C, NM_032735.2:c.1099G>T, NM_032735.2:c.1099G>C, XM_011537962.3:c.613G>T, XM_011537962.3:c.613G>C, XM_011537962.2:c.613G>T, XM_011537962.2:c.613G>C, XM_011537962.1:c.613G>T, XM_011537962.1:c.613G>C, XM_011537965.3:c.127G>T, XM_011537965.3:c.127G>C, XM_011537965.2:c.127G>T, XM_011537965.2:c.127G>C, XM_011537965.1:c.127G>T, XM_011537965.1:c.127G>C, NM_001282613.2:c.781G>T, NM_001282613.2:c.781G>C, NM_001282613.1:c.781G>T, NM_001282613.1:c.781G>C, XM_011537961.2:c.781G>T, XM_011537961.2:c.781G>C, XM_011537961.1:c.781G>T, XM_011537961.1:c.781G>C, XM_011537963.2:c.613G>T, XM_011537963.2:c.613G>C, XM_011537963.1:c.613G>T, XM_011537963.1:c.613G>C, NM_001282614.2:c.1099G>T, NM_001282614.2:c.1099G>C, NM_001282614.1:c.1099G>T, NM_001282614.1:c.1099G>C, XM_047428376.1:c.781G>T, XM_047428376.1:c.781G>C, XM_047428378.1:c.613G>T, XM_047428378.1:c.613G>C, XM_047428379.1:c.613G>T, XM_047428379.1:c.613G>C, XM_047428380.1:c.1099G>T, XM_047428380.1:c.1099G>C, NP_689652.2:p.Gly154Trp, NP_689652.2:p.Gly154Arg, NP_116124.2:p.Gly367Trp, NP_116124.2:p.Gly367Arg, XP_011536264.1:p.Gly205Trp, XP_011536264.1:p.Gly205Arg, XP_011536267.1:p.Gly43Trp, XP_011536267.1:p.Gly43Arg, NP_001269542.1:p.Gly261Trp, NP_001269542.1:p.Gly261Arg, XP_011536263.1:p.Gly261Trp, XP_011536263.1:p.Gly261Arg, XP_011536265.1:p.Gly205Trp, XP_011536265.1:p.Gly205Arg, NP_001269543.1:p.Gly367Trp, NP_001269543.1:p.Gly367Arg, XP_047284332.1:p.Gly261Trp, XP_047284332.1:p.Gly261Arg, XP_047284334.1:p.Gly205Trp, XP_047284334.1:p.Gly205Arg, XP_047284335.1:p.Gly205Trp, XP_047284335.1:p.Gly205Arg, XP_047284336.1:p.Gly367Trp, XP_047284336.1:p.Gly367Arg

                                  17.

                                  rs1461016602 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    12:69676943 (GRCh38)
                                    12:70070723 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:69676942:T:C
                                    Gene:
                                    BEST3 (Varview), LOC105369823 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000011/3 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1460035885 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      12:69655009 (GRCh38)
                                      12:70048789 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:69655008:G:A,NC_000012.12:69655008:G:C
                                      Gene:
                                      BEST3 (Varview), LOC105369823 (Varview)
                                      Functional Consequence:
                                      intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000012.12:g.69655009G>A, NC_000012.12:g.69655009G>C, NC_000012.11:g.70048789G>A, NC_000012.11:g.70048789G>C, NM_152439.4:c.1266C>T, NM_152439.4:c.1266C>G, NM_152439.3:c.1266C>T, NM_152439.3:c.1266C>G, NM_152439.2:c.1266C>T, NM_152439.2:c.1266C>G, NM_032735.3:c.1905C>T, NM_032735.3:c.1905C>G, NM_032735.2:c.1905C>T, NM_032735.2:c.1905C>G, XM_011537962.3:c.1419C>T, XM_011537962.3:c.1419C>G, XM_011537962.2:c.1419C>T, XM_011537962.2:c.1419C>G, XM_011537962.1:c.1419C>T, XM_011537962.1:c.1419C>G, XM_011537965.3:c.933C>T, XM_011537965.3:c.933C>G, XM_011537965.2:c.933C>T, XM_011537965.2:c.933C>G, XM_011537965.1:c.933C>T, XM_011537965.1:c.933C>G, NM_001282613.2:c.1587C>T, NM_001282613.2:c.1587C>G, NM_001282613.1:c.1587C>T, NM_001282613.1:c.1587C>G, XM_011537961.2:c.1587C>T, XM_011537961.2:c.1587C>G, XM_011537961.1:c.1587C>T, XM_011537961.1:c.1587C>G, XM_011537963.2:c.1419C>T, XM_011537963.2:c.1419C>G, XM_011537963.1:c.1419C>T, XM_011537963.1:c.1419C>G, XM_047428376.1:c.1587C>T, XM_047428376.1:c.1587C>G, XM_047428378.1:c.1419C>T, XM_047428378.1:c.1419C>G, XM_047428379.1:c.1419C>T, XM_047428379.1:c.1419C>G

                                      19.

                                      rs1459917540 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        12:69655755 (GRCh38)
                                        12:70049535 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:69655754:G:A
                                        Gene:
                                        BEST3 (Varview), LOC105369823 (Varview)
                                        Functional Consequence:
                                        intron_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000071/1 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000012.12:g.69655755G>A, NC_000012.11:g.70049535G>A, NM_152439.4:c.520C>T, NM_152439.3:c.520C>T, NM_152439.2:c.520C>T, NM_032735.3:c.1159C>T, NM_032735.2:c.1159C>T, XM_011537962.3:c.673C>T, XM_011537962.2:c.673C>T, XM_011537962.1:c.673C>T, XM_011537965.3:c.187C>T, XM_011537965.2:c.187C>T, XM_011537965.1:c.187C>T, NM_001282613.2:c.841C>T, NM_001282613.1:c.841C>T, XM_011537961.2:c.841C>T, XM_011537961.1:c.841C>T, XM_011537963.2:c.673C>T, XM_011537963.1:c.673C>T, XM_047428376.1:c.841C>T, XM_047428378.1:c.673C>T, XM_047428379.1:c.673C>T, NP_689652.2:p.His174Tyr, NP_116124.2:p.His387Tyr, XP_011536264.1:p.His225Tyr, XP_011536267.1:p.His63Tyr, NP_001269542.1:p.His281Tyr, XP_011536263.1:p.His281Tyr, XP_011536265.1:p.His225Tyr, XP_047284332.1:p.His281Tyr, XP_047284334.1:p.His225Tyr, XP_047284335.1:p.His225Tyr

                                        20.

                                        rs1455160214 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          12:69677249 (GRCh38)
                                          12:70071029 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:69677248:A:G
                                          Gene:
                                          BEST3 (Varview), LOC105369823 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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