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Items: 1 to 20 of 265

1.

rs1486068545 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    9:122313283 (GRCh38)
    9:125075562 (GRCh37)
    Canonical SPDI:
    NC_000009.12:122313282:A:G
    Gene:
    MRRF (Varview)
    Functional Consequence:
    intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000009.12:g.122313283A>G, NC_000009.11:g.125075562A>G, NG_051806.1:g.53681A>G, NM_138777.5:c.608A>G, NM_138777.4:c.608A>G, NM_138777.3:c.608A>G, NM_001173512.3:c.452A>G, NM_001173512.2:c.452A>G, NM_001173512.1:c.452A>G, NM_001346339.2:c.671A>G, NM_001346339.1:c.671A>G, NR_144421.2:n.988A>G, NR_144421.1:n.1267A>G, NM_001346341.2:c.608A>G, NM_001346341.1:c.608A>G, NM_001346343.2:c.476A>G, NM_001346343.1:c.476A>G, NM_001346345.2:c.516A>G, NM_001346345.1:c.516A>G, NM_001346347.2:c.335A>G, NM_001346347.1:c.335A>G, XM_011519183.3:c.671A>G, XM_011519183.2:c.671A>G, XM_011519183.1:c.671A>G, NM_199176.1:c.*396A>G, XR_007061373.1:n.1397A>G, XR_007061372.1:n.1102A>G, XR_007061374.1:n.1078A>G, XM_047424067.1:c.579A>G, NP_620132.1:p.Lys203Arg, NP_001166983.1:p.Lys151Arg, NP_001333268.1:p.Lys224Arg, NP_001333270.1:p.Lys203Arg, NP_001333272.1:p.Lys159Arg, NP_001333276.1:p.Lys112Arg, XP_011517485.1:p.Lys224Arg

    2.

    rs1482663628 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      9:122313340 (GRCh38)
      9:125075619 (GRCh37)
      Canonical SPDI:
      NC_000009.12:122313339:C:T
      Gene:
      MRRF (Varview)
      Functional Consequence:
      intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000014/2 (GnomAD)
      T=0.000016/4 (GnomAD_exomes)
      T=0.000026/7 (TOPMED)
      HGVS:
      NC_000009.12:g.122313340C>T, NC_000009.11:g.125075619C>T, NG_051806.1:g.53738C>T, NM_138777.5:c.665C>T, NM_138777.4:c.665C>T, NM_138777.3:c.665C>T, NM_001173512.3:c.509C>T, NM_001173512.2:c.509C>T, NM_001173512.1:c.509C>T, NM_001346339.2:c.728C>T, NM_001346339.1:c.728C>T, NR_144421.2:n.1045C>T, NR_144421.1:n.1324C>T, NM_001346341.2:c.665C>T, NM_001346341.1:c.665C>T, NM_001346343.2:c.533C>T, NM_001346343.1:c.533C>T, NM_001346345.2:c.573C>T, NM_001346345.1:c.573C>T, NM_001346347.2:c.392C>T, NM_001346347.1:c.392C>T, XM_011519183.3:c.728C>T, XM_011519183.2:c.728C>T, XM_011519183.1:c.728C>T, NM_199176.1:c.*453C>T, XM_047424067.1:c.636C>T, NP_620132.1:p.Ser222Phe, NP_001166983.1:p.Ser170Phe, NP_001333268.1:p.Ser243Phe, NP_001333270.1:p.Ser222Phe, NP_001333272.1:p.Ser178Phe, NP_001333276.1:p.Ser131Phe, XP_011517485.1:p.Ser243Phe

      3.

      rs1480228219 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        9:122265763 (GRCh38)
        9:125028042 (GRCh37)
        Canonical SPDI:
        NC_000009.12:122265762:A:G
        Gene:
        MRRF (Varview), RBM18 (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
        Validated:
        by frequency
        MAF:
        G=0.000008/1 (GnomAD_exomes)
        HGVS:

        4.

        rs1478130959 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          9:122280512 (GRCh38)
          9:125042791 (GRCh37)
          Canonical SPDI:
          NC_000009.12:122280511:T:A
          Gene:
          MRRF (Varview)
          Functional Consequence:
          intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,stop_gained
          Validated:
          by frequency,by cluster
          MAF:
          A=0./0 (KOREAN)
          A=0.000012/3 (GnomAD_exomes)
          HGVS:
          NC_000009.12:g.122280512T>A, NC_000009.11:g.125042791T>A, NG_051806.1:g.20910T>A, NM_138777.5:c.254T>A, NM_138777.4:c.254T>A, NM_138777.3:c.254T>A, NM_199177.4:c.254T>A, NM_199177.3:c.254T>A, NM_199177.2:c.254T>A, NM_001346339.2:c.317T>A, NM_001346339.1:c.317T>A, NR_144421.2:n.339T>A, NR_144421.1:n.618T>A, NM_001346341.2:c.254T>A, NM_001346341.1:c.254T>A, NM_001346343.2:c.122T>A, NM_001346343.1:c.122T>A, NM_001346345.2:c.254T>A, NM_001346345.1:c.254T>A, NM_001346347.2:c.-20T>A, NM_001346347.1:c.-20T>A, XM_011519185.4:c.317T>A, XM_011519185.3:c.317T>A, XM_011519185.2:c.317T>A, XM_011519185.1:c.317T>A, XM_011519183.3:c.317T>A, XM_011519183.2:c.317T>A, XM_011519183.1:c.317T>A, NM_199176.1:c.254T>A, XR_007061373.1:n.658T>A, XR_007061372.1:n.658T>A, XR_007061374.1:n.339T>A, XM_047424067.1:c.317T>A, XM_047424068.1:c.254T>A, NP_620132.1:p.Leu85Ter, NP_954646.1:p.Leu85Ter, NP_001333268.1:p.Leu106Ter, NP_001333270.1:p.Leu85Ter, NP_001333272.1:p.Leu41Ter, NP_001333274.1:p.Leu85Ter, XP_011517487.1:p.Leu106Ter, XP_011517485.1:p.Leu106Ter, XP_047280023.1:p.Leu106Ter, XP_047280024.1:p.Leu85Ter

          5.

          rs1475998387 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            9:122322613 (GRCh38)
            9:125084892 (GRCh37)
            Canonical SPDI:
            NC_000009.12:122322612:G:A
            Gene:
            MRRF (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_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_000009.12:g.122322613G>A, NC_000009.11:g.125084892G>A, NG_051806.1:g.63011G>A, NM_138777.5:c.785G>A, NM_138777.4:c.785G>A, NM_138777.3:c.785G>A, NM_199177.4:c.*19G>A, NM_199177.3:c.*19G>A, NM_199177.2:c.*19G>A, NM_001173512.3:c.629G>A, NM_001173512.2:c.629G>A, NM_001173512.1:c.629G>A, NM_001346339.2:c.848G>A, NM_001346339.1:c.848G>A, NR_144421.2:n.1165G>A, NR_144421.1:n.1444G>A, NM_001346341.2:c.785G>A, NM_001346341.1:c.785G>A, NM_001346343.2:c.653G>A, NM_001346343.1:c.653G>A, NM_001346345.2:c.*90G>A, NM_001346345.1:c.*90G>A, NM_001346347.2:c.512G>A, NM_001346347.1:c.512G>A, XM_011519185.4:c.*19G>A, XM_011519185.3:c.*19G>A, XM_011519185.2:c.*19G>A, XM_011519185.1:c.*19G>A, XM_011519183.3:c.848G>A, XM_011519183.2:c.848G>A, XM_011519183.1:c.848G>A, NM_199176.1:c.*573G>A, NP_620132.1:p.Gly262Glu, NP_001166983.1:p.Gly210Glu, NP_001333268.1:p.Gly283Glu, NP_001333270.1:p.Gly262Glu, NP_001333272.1:p.Gly218Glu, NP_001333276.1:p.Gly171Glu, XP_011517485.1:p.Gly283Glu

            6.

            rs1475217669 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G,T [Show Flanks]
              Chromosome:
              9:122270941 (GRCh38)
              9:125033220 (GRCh37)
              Canonical SPDI:
              NC_000009.12:122270940:A:G,NC_000009.12:122270940:A:T
              Gene:
              MRRF (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              G=0.000004/1 (GnomAD_exomes)
              T=0.000004/1 (TOPMED)
              HGVS:
              NC_000009.12:g.122270941A>G, NC_000009.12:g.122270941A>T, NC_000009.11:g.125033220A>G, NC_000009.11:g.125033220A>T, NG_051806.1:g.11339A>G, NG_051806.1:g.11339A>T, NM_138777.5:c.50A>G, NM_138777.5:c.50A>T, NM_138777.4:c.50A>G, NM_138777.4:c.50A>T, NM_138777.3:c.50A>G, NM_138777.3:c.50A>T, NM_199177.4:c.50A>G, NM_199177.4:c.50A>T, NM_199177.3:c.50A>G, NM_199177.3:c.50A>T, NM_199177.2:c.50A>G, NM_199177.2:c.50A>T, NM_001173512.3:c.50A>G, NM_001173512.3:c.50A>T, NM_001173512.2:c.50A>G, NM_001173512.2:c.50A>T, NM_001173512.1:c.50A>G, NM_001173512.1:c.50A>T, NM_001346339.2:c.113A>G, NM_001346339.2:c.113A>T, NM_001346339.1:c.113A>G, NM_001346339.1:c.113A>T, NR_144421.2:n.135A>G, NR_144421.2:n.135A>T, NR_144421.1:n.414A>G, NR_144421.1:n.414A>T, NM_001346341.2:c.50A>G, NM_001346341.2:c.50A>T, NM_001346341.1:c.50A>G, NM_001346341.1:c.50A>T, NM_001346345.2:c.50A>G, NM_001346345.2:c.50A>T, NM_001346345.1:c.50A>G, NM_001346345.1:c.50A>T, XM_011519185.4:c.113A>G, XM_011519185.4:c.113A>T, XM_011519185.3:c.113A>G, XM_011519185.3:c.113A>T, XM_011519185.2:c.113A>G, XM_011519185.2:c.113A>T, XM_011519185.1:c.113A>G, XM_011519185.1:c.113A>T, XM_011519183.3:c.113A>G, XM_011519183.3:c.113A>T, XM_011519183.2:c.113A>G, XM_011519183.2:c.113A>T, XM_011519183.1:c.113A>G, XM_011519183.1:c.113A>T, NM_199176.1:c.50A>G, NM_199176.1:c.50A>T, XR_007061373.1:n.454A>G, XR_007061373.1:n.454A>T, XR_007061372.1:n.454A>G, XR_007061372.1:n.454A>T, XR_007061374.1:n.135A>G, XR_007061374.1:n.135A>T, XM_047424067.1:c.113A>G, XM_047424067.1:c.113A>T, XM_047424068.1:c.50A>G, XM_047424068.1:c.50A>T, NP_620132.1:p.Asn17Ser, NP_620132.1:p.Asn17Ile, NP_954646.1:p.Asn17Ser, NP_954646.1:p.Asn17Ile, NP_001166983.1:p.Asn17Ser, NP_001166983.1:p.Asn17Ile, NP_001333268.1:p.Asn38Ser, NP_001333268.1:p.Asn38Ile, NP_001333270.1:p.Asn17Ser, NP_001333270.1:p.Asn17Ile, NP_001333274.1:p.Asn17Ser, NP_001333274.1:p.Asn17Ile, XP_011517487.1:p.Asn38Ser, XP_011517487.1:p.Asn38Ile, XP_011517485.1:p.Asn38Ser, XP_011517485.1:p.Asn38Ile, XP_047280023.1:p.Asn38Ser, XP_047280023.1:p.Asn38Ile, XP_047280024.1:p.Asn17Ser, XP_047280024.1:p.Asn17Ile

              7.

              rs1472861096 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                9:122265777 (GRCh38)
                9:125028056 (GRCh37)
                Canonical SPDI:
                NC_000009.12:122265776:T:C
                Gene:
                MRRF (Varview), RBM18 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                C=0.000008/1 (GnomAD_exomes)
                HGVS:

                8.

                rs1468614253 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  9:122291827 (GRCh38)
                  9:125054106 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:122291826:G:A
                  Gene:
                  MRRF (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000009.12:g.122291827G>A, NC_000009.11:g.125054106G>A, NG_051806.1:g.32225G>A, NM_138777.5:c.538G>A, NM_138777.4:c.538G>A, NM_138777.3:c.538G>A, NM_199177.4:c.538G>A, NM_199177.3:c.538G>A, NM_199177.2:c.538G>A, NM_001173512.3:c.382G>A, NM_001173512.2:c.382G>A, NM_001173512.1:c.382G>A, NM_001346339.2:c.601G>A, NM_001346339.1:c.601G>A, NR_144421.2:n.918G>A, NR_144421.1:n.1197G>A, NM_001346341.2:c.538G>A, NM_001346341.1:c.538G>A, NM_001346343.2:c.406G>A, NM_001346343.1:c.406G>A, NM_001346347.2:c.265G>A, NM_001346347.1:c.265G>A, XM_011519185.4:c.601G>A, XM_011519185.3:c.601G>A, XM_011519185.2:c.601G>A, XM_011519185.1:c.601G>A, XM_011519183.3:c.601G>A, XM_011519183.2:c.601G>A, XM_011519183.1:c.601G>A, NM_199176.1:c.*326G>A, XR_007061373.1:n.1237G>A, XR_007061372.1:n.942G>A, XR_007061374.1:n.918G>A, NP_620132.1:p.Val180Ile, NP_954646.1:p.Val180Ile, NP_001166983.1:p.Val128Ile, NP_001333268.1:p.Val201Ile, NP_001333270.1:p.Val180Ile, NP_001333272.1:p.Val136Ile, NP_001333276.1:p.Val89Ile, XP_011517487.1:p.Val201Ile, XP_011517485.1:p.Val201Ile

                  9.

                  rs1462201097 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    9:122270965 (GRCh38)
                    9:125033244 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:122270964:C:A
                    Gene:
                    MRRF (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    HGVS:
                    NC_000009.12:g.122270965C>A, NC_000009.11:g.125033244C>A, NG_051806.1:g.11363C>A, NM_138777.5:c.74C>A, NM_138777.4:c.74C>A, NM_138777.3:c.74C>A, NM_199177.4:c.74C>A, NM_199177.3:c.74C>A, NM_199177.2:c.74C>A, NM_001173512.3:c.74C>A, NM_001173512.2:c.74C>A, NM_001173512.1:c.74C>A, NM_001346339.2:c.137C>A, NM_001346339.1:c.137C>A, NR_144421.2:n.159C>A, NR_144421.1:n.438C>A, NM_001346341.2:c.74C>A, NM_001346341.1:c.74C>A, NM_001346343.2:c.-59C>A, NM_001346343.1:c.-59C>A, NM_001346345.2:c.74C>A, NM_001346345.1:c.74C>A, XM_011519185.4:c.137C>A, XM_011519185.3:c.137C>A, XM_011519185.2:c.137C>A, XM_011519185.1:c.137C>A, XM_011519183.3:c.137C>A, XM_011519183.2:c.137C>A, XM_011519183.1:c.137C>A, NM_199176.1:c.74C>A, XR_007061373.1:n.478C>A, XR_007061372.1:n.478C>A, XR_007061374.1:n.159C>A, XM_047424067.1:c.137C>A, XM_047424068.1:c.74C>A, NP_620132.1:p.Pro25His, NP_954646.1:p.Pro25His, NP_001166983.1:p.Pro25His, NP_001333268.1:p.Pro46His, NP_001333270.1:p.Pro25His, NP_001333274.1:p.Pro25His, XP_011517487.1:p.Pro46His, XP_011517485.1:p.Pro46His, XP_047280023.1:p.Pro46His, XP_047280024.1:p.Pro25His

                    10.

                    rs1459029862 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      9:122285250 (GRCh38)
                      9:125047529 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:122285249:C:T
                      Gene:
                      MRRF (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000009.12:g.122285250C>T, NC_000009.11:g.125047529C>T, NG_051806.1:g.25648C>T, NM_138777.5:c.422C>T, NM_138777.4:c.422C>T, NM_138777.3:c.422C>T, NM_199177.4:c.422C>T, NM_199177.3:c.422C>T, NM_199177.2:c.422C>T, NM_001173512.3:c.266C>T, NM_001173512.2:c.266C>T, NM_001173512.1:c.266C>T, NM_001346339.2:c.485C>T, NM_001346339.1:c.485C>T, NR_144421.2:n.507C>T, NR_144421.1:n.786C>T, NM_001346341.2:c.422C>T, NM_001346341.1:c.422C>T, NM_001346343.2:c.290C>T, NM_001346343.1:c.290C>T, NM_001346345.2:c.422C>T, NM_001346345.1:c.422C>T, NM_001346347.2:c.149C>T, NM_001346347.1:c.149C>T, XM_011519185.4:c.485C>T, XM_011519185.3:c.485C>T, XM_011519185.2:c.485C>T, XM_011519185.1:c.485C>T, XM_011519183.3:c.485C>T, XM_011519183.2:c.485C>T, XM_011519183.1:c.485C>T, NM_199176.1:c.422C>T, XR_007061373.1:n.826C>T, XR_007061372.1:n.826C>T, XR_007061374.1:n.507C>T, XM_047424067.1:c.485C>T, XM_047424068.1:c.422C>T, NP_620132.1:p.Pro141Leu, NP_954646.1:p.Pro141Leu, NP_001166983.1:p.Pro89Leu, NP_001333268.1:p.Pro162Leu, NP_001333270.1:p.Pro141Leu, NP_001333272.1:p.Pro97Leu, NP_001333274.1:p.Pro141Leu, NP_001333276.1:p.Pro50Leu, XP_011517487.1:p.Pro162Leu, XP_011517485.1:p.Pro162Leu, XP_047280023.1:p.Pro162Leu, XP_047280024.1:p.Pro141Leu

                      11.

                      rs1457309912 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        9:122285258 (GRCh38)
                        9:125047537 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:122285257:A:C
                        Gene:
                        MRRF (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000009.12:g.122285258A>C, NC_000009.11:g.125047537A>C, NG_051806.1:g.25656A>C, NM_138777.5:c.430A>C, NM_138777.4:c.430A>C, NM_138777.3:c.430A>C, NM_199177.4:c.430A>C, NM_199177.3:c.430A>C, NM_199177.2:c.430A>C, NM_001173512.3:c.274A>C, NM_001173512.2:c.274A>C, NM_001173512.1:c.274A>C, NM_001346339.2:c.493A>C, NM_001346339.1:c.493A>C, NR_144421.2:n.515A>C, NR_144421.1:n.794A>C, NM_001346341.2:c.430A>C, NM_001346341.1:c.430A>C, NM_001346343.2:c.298A>C, NM_001346343.1:c.298A>C, NM_001346345.2:c.430A>C, NM_001346345.1:c.430A>C, NM_001346347.2:c.157A>C, NM_001346347.1:c.157A>C, XM_011519185.4:c.493A>C, XM_011519185.3:c.493A>C, XM_011519185.2:c.493A>C, XM_011519185.1:c.493A>C, XM_011519183.3:c.493A>C, XM_011519183.2:c.493A>C, XM_011519183.1:c.493A>C, NM_199176.1:c.430A>C, XR_007061373.1:n.834A>C, XR_007061372.1:n.834A>C, XR_007061374.1:n.515A>C, XM_047424067.1:c.493A>C, XM_047424068.1:c.430A>C, NP_620132.1:p.Ile144Leu, NP_954646.1:p.Ile144Leu, NP_001166983.1:p.Ile92Leu, NP_001333268.1:p.Ile165Leu, NP_001333270.1:p.Ile144Leu, NP_001333272.1:p.Ile100Leu, NP_001333274.1:p.Ile144Leu, NP_001333276.1:p.Ile53Leu, XP_011517487.1:p.Ile165Leu, XP_011517485.1:p.Ile165Leu, XP_047280023.1:p.Ile165Leu, XP_047280024.1:p.Ile144Leu

                        12.

                        rs1454214909 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          9:122270870 (GRCh38)
                          9:125033149 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:122270869:T:G
                          Gene:
                          MRRF (Varview)
                          Functional Consequence:
                          missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000009.12:g.122270870T>G, NC_000009.11:g.125033149T>G, NG_051806.1:g.11268T>G, NM_138777.5:c.-22T>G, NM_138777.4:c.-22T>G, NM_138777.3:c.-22T>G, NM_199177.4:c.-22T>G, NM_199177.3:c.-22T>G, NM_199177.2:c.-22T>G, NM_001173512.3:c.-22T>G, NM_001173512.2:c.-22T>G, NM_001173512.1:c.-22T>G, NM_001346339.2:c.42T>G, NM_001346339.1:c.42T>G, NR_144421.2:n.64T>G, NR_144421.1:n.343T>G, NM_001346341.2:c.-22T>G, NM_001346341.1:c.-22T>G, NM_001346345.2:c.-22T>G, NM_001346345.1:c.-22T>G, XM_011519185.4:c.42T>G, XM_011519185.3:c.42T>G, XM_011519185.2:c.42T>G, XM_011519185.1:c.42T>G, XM_011519183.3:c.42T>G, XM_011519183.2:c.42T>G, XM_011519183.1:c.42T>G, NM_199176.1:c.-22T>G, XR_007061373.1:n.383T>G, XR_007061372.1:n.383T>G, XR_007061374.1:n.64T>G, XM_047424067.1:c.42T>G, XM_047424068.1:c.-22T>G, NP_001333268.1:p.Cys14Trp, XP_011517487.1:p.Cys14Trp, XP_011517485.1:p.Cys14Trp, XP_047280023.1:p.Cys14Trp

                          13.

                          rs1450691660 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAGGC>- [Show Flanks]
                            Chromosome:
                            9:122291767 (GRCh38)
                            9:125054046 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:122291765:CAAGGC:C
                            Gene:
                            MRRF (Varview)
                            Functional Consequence:
                            frameshift_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            -=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000009.12:g.122291767_122291771del, NC_000009.11:g.125054046_125054050del, NG_051806.1:g.32165_32169del, NM_138777.5:c.478_482del, NM_138777.4:c.478_482del, NM_138777.3:c.478_482del, NM_199177.4:c.478_482del, NM_199177.3:c.478_482del, NM_199177.2:c.478_482del, NM_001173512.3:c.322_326del, NM_001173512.2:c.322_326del, NM_001173512.1:c.322_326del, NM_001346339.2:c.541_545del, NM_001346339.1:c.541_545del, NR_144421.2:n.858_862del, NR_144421.1:n.1137_1141del, NM_001346341.2:c.478_482del, NM_001346341.1:c.478_482del, NM_001346343.2:c.346_350del, NM_001346343.1:c.346_350del, NM_001346347.2:c.205_209del, NM_001346347.1:c.205_209del, XM_011519185.4:c.541_545del, XM_011519185.3:c.541_545del, XM_011519185.2:c.541_545del, XM_011519185.1:c.541_545del, XM_011519183.3:c.541_545del, XM_011519183.2:c.541_545del, XM_011519183.1:c.541_545del, NM_199176.1:c.*266_*270del, XR_007061373.1:n.1177_1181del, XR_007061372.1:n.882_886del, XR_007061374.1:n.858_862del, NP_620132.1:p.Lys160fs, NP_954646.1:p.Lys160fs, NP_001166983.1:p.Lys108fs, NP_001333268.1:p.Lys181fs, NP_001333270.1:p.Lys160fs, NP_001333272.1:p.Lys116fs, NP_001333276.1:p.Lys69fs, XP_011517487.1:p.Lys181fs, XP_011517485.1:p.Lys181fs

                            14.

                            rs1446564780 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              9:122271014 (GRCh38)
                              9:125033293 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:122271013:T:C
                              Gene:
                              MRRF (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,intron_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000031/1 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000009.12:g.122271014T>C, NC_000009.11:g.125033293T>C, NG_051806.1:g.11412T>C, NM_138777.5:c.123T>C, NM_138777.4:c.123T>C, NM_138777.3:c.123T>C, NM_199177.4:c.123T>C, NM_199177.3:c.123T>C, NM_199177.2:c.123T>C, NM_001173512.3:c.123T>C, NM_001173512.2:c.123T>C, NM_001173512.1:c.123T>C, NM_001346339.2:c.186T>C, NM_001346339.1:c.186T>C, NR_144421.2:n.208T>C, NR_144421.1:n.487T>C, NM_001346341.2:c.123T>C, NM_001346341.1:c.123T>C, NM_001346343.2:c.-10T>C, NM_001346343.1:c.-10T>C, NM_001346345.2:c.123T>C, NM_001346345.1:c.123T>C, XM_011519185.4:c.186T>C, XM_011519185.3:c.186T>C, XM_011519185.2:c.186T>C, XM_011519185.1:c.186T>C, XM_011519183.3:c.186T>C, XM_011519183.2:c.186T>C, XM_011519183.1:c.186T>C, NM_199176.1:c.123T>C, XR_007061373.1:n.527T>C, XR_007061372.1:n.527T>C, XR_007061374.1:n.208T>C, XM_047424067.1:c.186T>C, XM_047424068.1:c.123T>C

                              15.

                              rs1442789748 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                9:122280470 (GRCh38)
                                9:125042749 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:122280469:G:A
                                Gene:
                                MRRF (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                HGVS:
                                NC_000009.12:g.122280470G>A, NC_000009.11:g.125042749G>A, NG_051806.1:g.20868G>A, NM_138777.5:c.212G>A, NM_138777.4:c.212G>A, NM_138777.3:c.212G>A, NM_199177.4:c.212G>A, NM_199177.3:c.212G>A, NM_199177.2:c.212G>A, NM_001346339.2:c.275G>A, NM_001346339.1:c.275G>A, NR_144421.2:n.297G>A, NR_144421.1:n.576G>A, NM_001346341.2:c.212G>A, NM_001346341.1:c.212G>A, NM_001346343.2:c.80G>A, NM_001346343.1:c.80G>A, NM_001346345.2:c.212G>A, NM_001346345.1:c.212G>A, NM_001346347.2:c.-62G>A, NM_001346347.1:c.-62G>A, XM_011519185.4:c.275G>A, XM_011519185.3:c.275G>A, XM_011519185.2:c.275G>A, XM_011519185.1:c.275G>A, XM_011519183.3:c.275G>A, XM_011519183.2:c.275G>A, XM_011519183.1:c.275G>A, NM_199176.1:c.212G>A, XR_007061373.1:n.616G>A, XR_007061372.1:n.616G>A, XR_007061374.1:n.297G>A, XM_047424067.1:c.275G>A, XM_047424068.1:c.212G>A, NP_620132.1:p.Arg71Lys, NP_954646.1:p.Arg71Lys, NP_001333268.1:p.Arg92Lys, NP_001333270.1:p.Arg71Lys, NP_001333272.1:p.Arg27Lys, NP_001333274.1:p.Arg71Lys, XP_011517487.1:p.Arg92Lys, XP_011517485.1:p.Arg92Lys, XP_047280023.1:p.Arg92Lys, XP_047280024.1:p.Arg71Lys

                                16.

                                rs1438054381 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  9:122270884 (GRCh38)
                                  9:125033163 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:122270883:C:G,NC_000009.12:122270883:C:T
                                  Gene:
                                  MRRF (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000066/1 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  T=0.000223/1 (Estonian)
                                  HGVS:
                                  NC_000009.12:g.122270884C>G, NC_000009.12:g.122270884C>T, NC_000009.11:g.125033163C>G, NC_000009.11:g.125033163C>T, NG_051806.1:g.11282C>G, NG_051806.1:g.11282C>T, NM_138777.5:c.-8C>G, NM_138777.5:c.-8C>T, NM_138777.4:c.-8C>G, NM_138777.4:c.-8C>T, NM_138777.3:c.-8C>G, NM_138777.3:c.-8C>T, NM_199177.4:c.-8C>G, NM_199177.4:c.-8C>T, NM_199177.3:c.-8C>G, NM_199177.3:c.-8C>T, NM_199177.2:c.-8C>G, NM_199177.2:c.-8C>T, NM_001173512.3:c.-8C>G, NM_001173512.3:c.-8C>T, NM_001173512.2:c.-8C>G, NM_001173512.2:c.-8C>T, NM_001173512.1:c.-8C>G, NM_001173512.1:c.-8C>T, NM_001346339.2:c.56C>G, NM_001346339.2:c.56C>T, NM_001346339.1:c.56C>G, NM_001346339.1:c.56C>T, NR_144421.2:n.78C>G, NR_144421.2:n.78C>T, NR_144421.1:n.357C>G, NR_144421.1:n.357C>T, NM_001346341.2:c.-8C>G, NM_001346341.2:c.-8C>T, NM_001346341.1:c.-8C>G, NM_001346341.1:c.-8C>T, NM_001346345.2:c.-8C>G, NM_001346345.2:c.-8C>T, NM_001346345.1:c.-8C>G, NM_001346345.1:c.-8C>T, XM_011519185.4:c.56C>G, XM_011519185.4:c.56C>T, XM_011519185.3:c.56C>G, XM_011519185.3:c.56C>T, XM_011519185.2:c.56C>G, XM_011519185.2:c.56C>T, XM_011519185.1:c.56C>G, XM_011519185.1:c.56C>T, XM_011519183.3:c.56C>G, XM_011519183.3:c.56C>T, XM_011519183.2:c.56C>G, XM_011519183.2:c.56C>T, XM_011519183.1:c.56C>G, XM_011519183.1:c.56C>T, NM_199176.1:c.-8C>G, NM_199176.1:c.-8C>T, XR_007061373.1:n.397C>G, XR_007061373.1:n.397C>T, XR_007061372.1:n.397C>G, XR_007061372.1:n.397C>T, XR_007061374.1:n.78C>G, XR_007061374.1:n.78C>T, XM_047424067.1:c.56C>G, XM_047424067.1:c.56C>T, XM_047424068.1:c.-8C>G, XM_047424068.1:c.-8C>T, NP_001333268.1:p.Ser19Cys, NP_001333268.1:p.Ser19Phe, XP_011517487.1:p.Ser19Cys, XP_011517487.1:p.Ser19Phe, XP_011517485.1:p.Ser19Cys, XP_011517485.1:p.Ser19Phe, XP_047280023.1:p.Ser19Cys, XP_047280023.1:p.Ser19Phe

                                  17.

                                  rs1436957164 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    9:122271063 (GRCh38)
                                    9:125033342 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:122271062:A:G
                                    Gene:
                                    MRRF (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000019/5 (TOPMED)
                                    HGVS:
                                    NC_000009.12:g.122271063A>G, NC_000009.11:g.125033342A>G, NG_051806.1:g.11461A>G, NM_138777.5:c.172A>G, NM_138777.4:c.172A>G, NM_138777.3:c.172A>G, NM_199177.4:c.172A>G, NM_199177.3:c.172A>G, NM_199177.2:c.172A>G, NM_001173512.3:c.172A>G, NM_001173512.2:c.172A>G, NM_001173512.1:c.172A>G, NM_001346339.2:c.235A>G, NM_001346339.1:c.235A>G, NR_144421.2:n.257A>G, NR_144421.1:n.536A>G, NM_001346341.2:c.172A>G, NM_001346341.1:c.172A>G, NM_001346343.2:c.40A>G, NM_001346343.1:c.40A>G, NM_001346345.2:c.172A>G, NM_001346345.1:c.172A>G, XM_011519185.4:c.235A>G, XM_011519185.3:c.235A>G, XM_011519185.2:c.235A>G, XM_011519185.1:c.235A>G, XM_011519183.3:c.235A>G, XM_011519183.2:c.235A>G, XM_011519183.1:c.235A>G, NM_199176.1:c.172A>G, XR_007061373.1:n.576A>G, XR_007061372.1:n.576A>G, XR_007061374.1:n.257A>G, XM_047424067.1:c.235A>G, XM_047424068.1:c.172A>G, NP_620132.1:p.Lys58Glu, NP_954646.1:p.Lys58Glu, NP_001166983.1:p.Lys58Glu, NP_001333268.1:p.Lys79Glu, NP_001333270.1:p.Lys58Glu, NP_001333272.1:p.Lys14Glu, NP_001333274.1:p.Lys58Glu, XP_011517487.1:p.Lys79Glu, XP_011517485.1:p.Lys79Glu, XP_047280023.1:p.Lys79Glu, XP_047280024.1:p.Lys58Glu

                                    18.

                                    rs1436098800 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      9:122313328 (GRCh38)
                                      9:125075607 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:122313327:A:C
                                      Gene:
                                      MRRF (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_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_000009.12:g.122313328A>C, NC_000009.11:g.125075607A>C, NG_051806.1:g.53726A>C, NM_138777.5:c.653A>C, NM_138777.4:c.653A>C, NM_138777.3:c.653A>C, NM_001173512.3:c.497A>C, NM_001173512.2:c.497A>C, NM_001173512.1:c.497A>C, NM_001346339.2:c.716A>C, NM_001346339.1:c.716A>C, NR_144421.2:n.1033A>C, NR_144421.1:n.1312A>C, NM_001346341.2:c.653A>C, NM_001346341.1:c.653A>C, NM_001346343.2:c.521A>C, NM_001346343.1:c.521A>C, NM_001346345.2:c.561A>C, NM_001346345.1:c.561A>C, NM_001346347.2:c.380A>C, NM_001346347.1:c.380A>C, XM_011519183.3:c.716A>C, XM_011519183.2:c.716A>C, XM_011519183.1:c.716A>C, NM_199176.1:c.*441A>C, XM_047424067.1:c.624A>C, NP_620132.1:p.Lys218Thr, NP_001166983.1:p.Lys166Thr, NP_001333268.1:p.Lys239Thr, NP_001333270.1:p.Lys218Thr, NP_001333272.1:p.Lys174Thr, NP_001333274.1:p.Gln187His, NP_001333276.1:p.Lys127Thr, XP_011517485.1:p.Lys239Thr, XP_047280023.1:p.Gln208His

                                      19.

                                      rs1436067270 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        9:122291778 (GRCh38)
                                        9:125054057 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:122291777:A:G
                                        Gene:
                                        MRRF (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0.000028/1 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000009.12:g.122291778A>G, NC_000009.11:g.125054057A>G, NG_051806.1:g.32176A>G, NM_138777.5:c.489A>G, NM_138777.4:c.489A>G, NM_138777.3:c.489A>G, NM_199177.4:c.489A>G, NM_199177.3:c.489A>G, NM_199177.2:c.489A>G, NM_001173512.3:c.333A>G, NM_001173512.2:c.333A>G, NM_001173512.1:c.333A>G, NM_001346339.2:c.552A>G, NM_001346339.1:c.552A>G, NR_144421.2:n.869A>G, NR_144421.1:n.1148A>G, NM_001346341.2:c.489A>G, NM_001346341.1:c.489A>G, NM_001346343.2:c.357A>G, NM_001346343.1:c.357A>G, NM_001346347.2:c.216A>G, NM_001346347.1:c.216A>G, XM_011519185.4:c.552A>G, XM_011519185.3:c.552A>G, XM_011519185.2:c.552A>G, XM_011519185.1:c.552A>G, XM_011519183.3:c.552A>G, XM_011519183.2:c.552A>G, XM_011519183.1:c.552A>G, NM_199176.1:c.*277A>G, XR_007061373.1:n.1188A>G, XR_007061372.1:n.893A>G, XR_007061374.1:n.869A>G

                                        20.

                                        rs1432624549 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          9:122322557 (GRCh38)
                                          9:125084836 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:122322556:T:C
                                          Gene:
                                          MRRF (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000009.12:g.122322557T>C, NC_000009.11:g.125084836T>C, NG_051806.1:g.62955T>C, NM_138777.5:c.729T>C, NM_138777.4:c.729T>C, NM_138777.3:c.729T>C, NM_199177.4:c.569T>C, NM_199177.3:c.569T>C, NM_199177.2:c.569T>C, NM_001173512.3:c.573T>C, NM_001173512.2:c.573T>C, NM_001173512.1:c.573T>C, NM_001346339.2:c.792T>C, NM_001346339.1:c.792T>C, NR_144421.2:n.1109T>C, NR_144421.1:n.1388T>C, NM_001346341.2:c.729T>C, NM_001346341.1:c.729T>C, NM_001346343.2:c.597T>C, NM_001346343.1:c.597T>C, NM_001346345.2:c.*34T>C, NM_001346345.1:c.*34T>C, NM_001346347.2:c.456T>C, NM_001346347.1:c.456T>C, XM_011519185.4:c.632T>C, XM_011519185.3:c.632T>C, XM_011519185.2:c.632T>C, XM_011519185.1:c.632T>C, XM_011519183.3:c.792T>C, XM_011519183.2:c.792T>C, XM_011519183.1:c.792T>C, NM_199176.1:c.*517T>C, NP_954646.1:p.Met190Thr, XP_011517487.1:p.Met211Thr

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