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Items: 1 to 20 of 867

1.

rs1489787681 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    5:112275351 (GRCh38)
    5:111611048 (GRCh37)
    Canonical SPDI:
    NC_000005.10:112275350:A:C
    Gene:
    EPB41L4A (Varview)
    Functional Consequence:
    5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    C=0.000005/1 (GnomAD_exomes)
    HGVS:
    NC_000005.10:g.112275351A>C, NC_000005.9:g.111611048A>C, NG_052950.1:g.148966T>G, NM_022140.5:c.310T>G, NM_022140.4:c.310T>G, NM_022140.3:c.310T>G, NR_144931.2:n.548T>G, NR_144931.1:n.587T>G, NM_001347887.2:c.310T>G, NM_001347887.1:c.310T>G, NM_001347888.2:c.310T>G, NM_001347888.1:c.310T>G, XM_011543531.4:c.310T>G, XM_011543531.3:c.310T>G, XM_011543531.2:c.310T>G, XM_011543531.1:c.310T>G, XM_011543532.3:c.310T>G, XM_011543532.2:c.310T>G, XM_011543532.1:c.310T>G, XM_011543533.3:c.310T>G, XM_011543533.2:c.310T>G, XM_011543533.1:c.310T>G, XR_001742173.3:n.548T>G, XR_001742173.2:n.495T>G, XR_001742173.1:n.761T>G, XM_047417475.1:c.310T>G, XM_047417474.1:c.310T>G, XM_047417476.1:c.310T>G, XM_047417478.1:c.-243T>G, XM_047417477.1:c.-243T>G, XM_047417472.1:c.310T>G, XM_047417471.1:c.310T>G, XM_047417479.1:c.310T>G, NP_071423.4:p.Cys104Gly, NP_001334816.1:p.Cys104Gly, NP_001334817.1:p.Cys104Gly, XP_011541833.1:p.Cys104Gly, XP_011541834.1:p.Cys104Gly, XP_011541835.1:p.Cys104Gly, XP_047273431.1:p.Cys104Gly, XP_047273430.1:p.Cys104Gly, XP_047273432.1:p.Cys104Gly, XP_047273428.1:p.Cys104Gly, XP_047273427.1:p.Cys104Gly, XP_047273435.1:p.Cys104Gly

    2.

    rs1489348041 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      5:112170974 (GRCh38)
      5:111506671 (GRCh37)
      Canonical SPDI:
      NC_000005.10:112170973:T:C
      Gene:
      EPB41L4A (Varview)
      Functional Consequence:
      synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:

      3.

      rs1487722660 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        5:112145928 (GRCh38)
        5:111481625 (GRCh37)
        Canonical SPDI:
        NC_000005.10:112145927:T:G
        Gene:
        EPB41L4A (Varview)
        Functional Consequence:
        non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
        HGVS:

        4.

        rs1487389376 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          5:112168749 (GRCh38)
          5:111504446 (GRCh37)
          Canonical SPDI:
          NC_000005.10:112168748:G:T
          Gene:
          EPB41L4A (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000012/3 (GnomAD_exomes)
          T=0.000026/7 (TOPMED)
          HGVS:
          NC_000005.10:g.112168749G>T, NC_000005.9:g.111504446G>T, NG_052950.1:g.255568C>A, NM_022140.5:c.1922C>A, NM_022140.4:c.1922C>A, NM_022140.3:c.1922C>A, NR_144931.2:n.2205C>A, NR_144931.1:n.2244C>A, NM_001347887.2:c.1922C>A, NM_001347887.1:c.1922C>A, XM_011543531.4:c.1922C>A, XM_011543531.3:c.1922C>A, XM_011543531.2:c.1922C>A, XM_011543531.1:c.1922C>A, XM_011543532.3:c.1922C>A, XM_011543532.2:c.1922C>A, XM_011543532.1:c.1922C>A, XM_011543533.3:c.1838C>A, XM_011543533.2:c.1838C>A, XM_011543533.1:c.1838C>A, XR_001742173.3:n.2160C>A, XR_001742173.2:n.2107C>A, XR_001742173.1:n.2373C>A, XM_047417475.1:c.1922C>A, XM_047417474.1:c.1922C>A, XM_047417476.1:c.1838C>A, XM_047417478.1:c.1370C>A, XM_047417477.1:c.1370C>A, XM_047417472.1:c.1922C>A, XM_047417471.1:c.1922C>A, NP_071423.4:p.Thr641Lys, NP_001334816.1:p.Thr641Lys, XP_011541833.1:p.Thr641Lys, XP_011541834.1:p.Thr641Lys, XP_011541835.1:p.Thr613Lys, XP_047273431.1:p.Thr641Lys, XP_047273430.1:p.Thr641Lys, XP_047273432.1:p.Thr613Lys, XP_047273434.1:p.Thr457Lys, XP_047273433.1:p.Thr457Lys, XP_047273428.1:p.Thr641Lys, XP_047273427.1:p.Thr641Lys

          5.

          rs1486220925 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            5:112145945 (GRCh38)
            5:111481642 (GRCh37)
            Canonical SPDI:
            NC_000005.10:112145944:C:A
            Gene:
            EPB41L4A (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:

            6.

            rs1482833442 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C,G [Show Flanks]
              Chromosome:
              5:112239661 (GRCh38)
              5:111575358 (GRCh37)
              Canonical SPDI:
              NC_000005.10:112239660:T:C,NC_000005.10:112239660:T:G
              Gene:
              EPB41L4A (Varview), LOC101927023 (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              G=0.000009/2 (GnomAD_exomes)
              HGVS:
              NC_000005.10:g.112239661T>C, NC_000005.10:g.112239661T>G, NC_000005.9:g.111575358T>C, NC_000005.9:g.111575358T>G, NG_052950.1:g.184656A>G, NG_052950.1:g.184656A>C, NM_022140.5:c.964A>G, NM_022140.5:c.964A>C, NM_022140.4:c.964A>G, NM_022140.4:c.964A>C, NM_022140.3:c.964A>G, NM_022140.3:c.964A>C, NR_144931.2:n.1202A>G, NR_144931.2:n.1202A>C, NR_144931.1:n.1241A>G, NR_144931.1:n.1241A>C, NM_001347887.2:c.964A>G, NM_001347887.2:c.964A>C, NM_001347887.1:c.964A>G, NM_001347887.1:c.964A>C, XM_011543531.4:c.964A>G, XM_011543531.4:c.964A>C, XM_011543531.3:c.964A>G, XM_011543531.3:c.964A>C, XM_011543531.2:c.964A>G, XM_011543531.2:c.964A>C, XM_011543531.1:c.964A>G, XM_011543531.1:c.964A>C, XM_011543532.3:c.964A>G, XM_011543532.3:c.964A>C, XM_011543532.2:c.964A>G, XM_011543532.2:c.964A>C, XM_011543532.1:c.964A>G, XM_011543532.1:c.964A>C, XM_011543533.3:c.964A>G, XM_011543533.3:c.964A>C, XM_011543533.2:c.964A>G, XM_011543533.2:c.964A>C, XM_011543533.1:c.964A>G, XM_011543533.1:c.964A>C, XR_001742173.3:n.1202A>G, XR_001742173.3:n.1202A>C, XR_001742173.2:n.1149A>G, XR_001742173.2:n.1149A>C, XR_001742173.1:n.1415A>G, XR_001742173.1:n.1415A>C, XM_047417475.1:c.964A>G, XM_047417475.1:c.964A>C, XM_047417474.1:c.964A>G, XM_047417474.1:c.964A>C, XM_047417476.1:c.964A>G, XM_047417476.1:c.964A>C, XM_047417478.1:c.412A>G, XM_047417478.1:c.412A>C, XM_047417477.1:c.412A>G, XM_047417477.1:c.412A>C, XM_047417472.1:c.964A>G, XM_047417472.1:c.964A>C, XM_047417471.1:c.964A>G, XM_047417471.1:c.964A>C, XM_047417479.1:c.964A>G, XM_047417479.1:c.964A>C, NP_071423.4:p.Ser322Gly, NP_071423.4:p.Ser322Arg, NP_001334816.1:p.Ser322Gly, NP_001334816.1:p.Ser322Arg, XP_011541833.1:p.Ser322Gly, XP_011541833.1:p.Ser322Arg, XP_011541834.1:p.Ser322Gly, XP_011541834.1:p.Ser322Arg, XP_011541835.1:p.Ser322Gly, XP_011541835.1:p.Ser322Arg, XP_047273431.1:p.Ser322Gly, XP_047273431.1:p.Ser322Arg, XP_047273430.1:p.Ser322Gly, XP_047273430.1:p.Ser322Arg, XP_047273432.1:p.Ser322Gly, XP_047273432.1:p.Ser322Arg, XP_047273434.1:p.Ser138Gly, XP_047273434.1:p.Ser138Arg, XP_047273433.1:p.Ser138Gly, XP_047273433.1:p.Ser138Arg, XP_047273428.1:p.Ser322Gly, XP_047273428.1:p.Ser322Arg, XP_047273427.1:p.Ser322Gly, XP_047273427.1:p.Ser322Arg, XP_047273435.1:p.Ser322Gly, XP_047273435.1:p.Ser322Arg

              7.

              rs1481965423 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,C [Show Flanks]
                Chromosome:
                5:112259950 (GRCh38)
                5:111595647 (GRCh37)
                Canonical SPDI:
                NC_000005.10:112259949:T:A,NC_000005.10:112259949:T:C
                Gene:
                EPB41L4A (Varview)
                Functional Consequence:
                synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                C=0.000684/2 (KOREAN)
                HGVS:
                NC_000005.10:g.112259950T>A, NC_000005.10:g.112259950T>C, NC_000005.9:g.111595647T>A, NC_000005.9:g.111595647T>C, NG_052950.1:g.164367A>T, NG_052950.1:g.164367A>G, NM_022140.5:c.672A>T, NM_022140.5:c.672A>G, NM_022140.4:c.672A>T, NM_022140.4:c.672A>G, NM_022140.3:c.672A>T, NM_022140.3:c.672A>G, NR_144931.2:n.910A>T, NR_144931.2:n.910A>G, NR_144931.1:n.949A>T, NR_144931.1:n.949A>G, NM_001347887.2:c.672A>T, NM_001347887.2:c.672A>G, NM_001347887.1:c.672A>T, NM_001347887.1:c.672A>G, XM_011543531.4:c.672A>T, XM_011543531.4:c.672A>G, XM_011543531.3:c.672A>T, XM_011543531.3:c.672A>G, XM_011543531.2:c.672A>T, XM_011543531.2:c.672A>G, XM_011543531.1:c.672A>T, XM_011543531.1:c.672A>G, XM_011543532.3:c.672A>T, XM_011543532.3:c.672A>G, XM_011543532.2:c.672A>T, XM_011543532.2:c.672A>G, XM_011543532.1:c.672A>T, XM_011543532.1:c.672A>G, XM_011543533.3:c.672A>T, XM_011543533.3:c.672A>G, XM_011543533.2:c.672A>T, XM_011543533.2:c.672A>G, XM_011543533.1:c.672A>T, XM_011543533.1:c.672A>G, XR_001742173.3:n.910A>T, XR_001742173.3:n.910A>G, XR_001742173.2:n.857A>T, XR_001742173.2:n.857A>G, XR_001742173.1:n.1123A>T, XR_001742173.1:n.1123A>G, XM_047417475.1:c.672A>T, XM_047417475.1:c.672A>G, XM_047417474.1:c.672A>T, XM_047417474.1:c.672A>G, XM_047417476.1:c.672A>T, XM_047417476.1:c.672A>G, XM_047417478.1:c.120A>T, XM_047417478.1:c.120A>G, XM_047417477.1:c.120A>T, XM_047417477.1:c.120A>G, XM_047417472.1:c.672A>T, XM_047417472.1:c.672A>G, XM_047417471.1:c.672A>T, XM_047417471.1:c.672A>G, XM_047417479.1:c.672A>T, XM_047417479.1:c.672A>G

                8.

                rs1479393788 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,T [Show Flanks]
                  Chromosome:
                  5:112204467 (GRCh38)
                  5:111540164 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:112204466:A:C,NC_000005.10:112204466:A:T
                  Gene:
                  EPB41L4A (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  T=0.000012/3 (GnomAD_exomes)
                  HGVS:
                  NC_000005.10:g.112204467A>C, NC_000005.10:g.112204467A>T, NC_000005.9:g.111540164A>C, NC_000005.9:g.111540164A>T, NG_052950.1:g.219850T>G, NG_052950.1:g.219850T>A, NM_022140.5:c.1284T>G, NM_022140.5:c.1284T>A, NM_022140.4:c.1284T>G, NM_022140.4:c.1284T>A, NM_022140.3:c.1284T>G, NM_022140.3:c.1284T>A, NR_144931.2:n.1522T>G, NR_144931.2:n.1522T>A, NR_144931.1:n.1561T>G, NR_144931.1:n.1561T>A, NM_001347887.2:c.1284T>G, NM_001347887.2:c.1284T>A, NM_001347887.1:c.1284T>G, NM_001347887.1:c.1284T>A, XM_011543531.4:c.1284T>G, XM_011543531.4:c.1284T>A, XM_011543531.3:c.1284T>G, XM_011543531.3:c.1284T>A, XM_011543531.2:c.1284T>G, XM_011543531.2:c.1284T>A, XM_011543531.1:c.1284T>G, XM_011543531.1:c.1284T>A, XM_011543532.3:c.1284T>G, XM_011543532.3:c.1284T>A, XM_011543532.2:c.1284T>G, XM_011543532.2:c.1284T>A, XM_011543532.1:c.1284T>G, XM_011543532.1:c.1284T>A, XM_011543533.3:c.1200T>G, XM_011543533.3:c.1200T>A, XM_011543533.2:c.1200T>G, XM_011543533.2:c.1200T>A, XM_011543533.1:c.1200T>G, XM_011543533.1:c.1200T>A, XR_001742173.3:n.1522T>G, XR_001742173.3:n.1522T>A, XR_001742173.2:n.1469T>G, XR_001742173.2:n.1469T>A, XR_001742173.1:n.1735T>G, XR_001742173.1:n.1735T>A, XM_047417475.1:c.1284T>G, XM_047417475.1:c.1284T>A, XM_047417474.1:c.1284T>G, XM_047417474.1:c.1284T>A, XM_047417476.1:c.1200T>G, XM_047417476.1:c.1200T>A, XM_047417478.1:c.732T>G, XM_047417478.1:c.732T>A, XM_047417477.1:c.732T>G, XM_047417477.1:c.732T>A, XM_047417472.1:c.1284T>G, XM_047417472.1:c.1284T>A, XM_047417471.1:c.1284T>G, XM_047417471.1:c.1284T>A, NP_071423.4:p.Ser428Arg, NP_071423.4:p.Ser428Arg, NP_001334816.1:p.Ser428Arg, NP_001334816.1:p.Ser428Arg, XP_011541833.1:p.Ser428Arg, XP_011541833.1:p.Ser428Arg, XP_011541834.1:p.Ser428Arg, XP_011541834.1:p.Ser428Arg, XP_011541835.1:p.Ser400Arg, XP_011541835.1:p.Ser400Arg, XP_047273431.1:p.Ser428Arg, XP_047273431.1:p.Ser428Arg, XP_047273430.1:p.Ser428Arg, XP_047273430.1:p.Ser428Arg, XP_047273432.1:p.Ser400Arg, XP_047273432.1:p.Ser400Arg, XP_047273434.1:p.Ser244Arg, XP_047273434.1:p.Ser244Arg, XP_047273433.1:p.Ser244Arg, XP_047273433.1:p.Ser244Arg, XP_047273428.1:p.Ser428Arg, XP_047273428.1:p.Ser428Arg, XP_047273427.1:p.Ser428Arg, XP_047273427.1:p.Ser428Arg

                  9.

                  rs1479246074 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    5:112195662 (GRCh38)
                    5:111531359 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:112195661:T:G
                    Gene:
                    EPB41L4A (Varview), LOC124901044 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                    HGVS:

                    10.

                    rs1479030342 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      5:112262519 (GRCh38)
                      5:111598216 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:112262518:T:A
                      Gene:
                      EPB41L4A (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                      HGVS:
                      NC_000005.10:g.112262519T>A, NC_000005.9:g.111598216T>A, NG_052950.1:g.161798A>T, NM_022140.5:c.617A>T, NM_022140.4:c.617A>T, NM_022140.3:c.617A>T, NR_144931.2:n.855A>T, NR_144931.1:n.894A>T, NM_001347887.2:c.617A>T, NM_001347887.1:c.617A>T, XM_011543531.4:c.617A>T, XM_011543531.3:c.617A>T, XM_011543531.2:c.617A>T, XM_011543531.1:c.617A>T, XM_011543532.3:c.617A>T, XM_011543532.2:c.617A>T, XM_011543532.1:c.617A>T, XM_011543533.3:c.617A>T, XM_011543533.2:c.617A>T, XM_011543533.1:c.617A>T, XR_001742173.3:n.855A>T, XR_001742173.2:n.802A>T, XR_001742173.1:n.1068A>T, XM_047417475.1:c.617A>T, XM_047417474.1:c.617A>T, XM_047417476.1:c.617A>T, XM_047417478.1:c.65A>T, XM_047417477.1:c.65A>T, XM_047417472.1:c.617A>T, XM_047417471.1:c.617A>T, XM_047417479.1:c.617A>T, NP_071423.4:p.Tyr206Phe, NP_001334816.1:p.Tyr206Phe, XP_011541833.1:p.Tyr206Phe, XP_011541834.1:p.Tyr206Phe, XP_011541835.1:p.Tyr206Phe, XP_047273431.1:p.Tyr206Phe, XP_047273430.1:p.Tyr206Phe, XP_047273432.1:p.Tyr206Phe, XP_047273434.1:p.Tyr22Phe, XP_047273433.1:p.Tyr22Phe, XP_047273428.1:p.Tyr206Phe, XP_047273427.1:p.Tyr206Phe, XP_047273435.1:p.Tyr206Phe

                      11.

                      rs1478253608 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        5:112264993 (GRCh38)
                        5:111600690 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:112264992:A:C
                        Gene:
                        EPB41L4A (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
                        HGVS:
                        NC_000005.10:g.112264993A>C, NC_000005.9:g.111600690A>C, NG_052950.1:g.159324T>G, NM_022140.5:c.457T>G, NM_022140.4:c.457T>G, NM_022140.3:c.457T>G, NR_144931.2:n.695T>G, NR_144931.1:n.734T>G, NM_001347887.2:c.457T>G, NM_001347887.1:c.457T>G, NM_001347888.2:c.457T>G, NM_001347888.1:c.457T>G, XM_011543531.4:c.457T>G, XM_011543531.3:c.457T>G, XM_011543531.2:c.457T>G, XM_011543531.1:c.457T>G, XM_011543532.3:c.457T>G, XM_011543532.2:c.457T>G, XM_011543532.1:c.457T>G, XM_011543533.3:c.457T>G, XM_011543533.2:c.457T>G, XM_011543533.1:c.457T>G, XR_001742173.3:n.695T>G, XR_001742173.2:n.642T>G, XR_001742173.1:n.908T>G, XM_047417475.1:c.457T>G, XM_047417474.1:c.457T>G, XM_047417476.1:c.457T>G, XM_047417478.1:c.-96T>G, XM_047417477.1:c.-96T>G, XM_047417472.1:c.457T>G, XM_047417471.1:c.457T>G, XM_047417479.1:c.457T>G, NP_071423.4:p.Tyr153Asp, NP_001334816.1:p.Tyr153Asp, NP_001334817.1:p.Tyr153Asp, XP_011541833.1:p.Tyr153Asp, XP_011541834.1:p.Tyr153Asp, XP_011541835.1:p.Tyr153Asp, XP_047273431.1:p.Tyr153Asp, XP_047273430.1:p.Tyr153Asp, XP_047273432.1:p.Tyr153Asp, XP_047273428.1:p.Tyr153Asp, XP_047273427.1:p.Tyr153Asp, XP_047273435.1:p.Tyr153Asp

                        12.

                        rs1478117084 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->A [Show Flanks]
                          Chromosome:
                          5:112234634 (GRCh38)
                          5:111570332 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:112234634:A:AA
                          Gene:
                          EPB41L4A (Varview), LOC101927023 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,stop_gained,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AA=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000005.10:g.112234635dup, NC_000005.9:g.111570332dup, NG_052950.1:g.189682dup, NM_022140.5:c.1086dup, NM_022140.4:c.1086dup, NM_022140.3:c.1086dup, NR_144931.2:n.1324dup, NR_144931.1:n.1363dup, NM_001347887.2:c.1086dup, NM_001347887.1:c.1086dup, XM_011543531.4:c.1086dup, XM_011543531.3:c.1086dup, XM_011543531.2:c.1086dup, XM_011543531.1:c.1086dup, XM_011543532.3:c.1086dup, XM_011543532.2:c.1086dup, XM_011543532.1:c.1086dup, XM_011543533.3:c.1086dup, XM_011543533.2:c.1086dup, XM_011543533.1:c.1086dup, XR_001742173.3:n.1324dup, XR_001742173.2:n.1271dup, XR_001742173.1:n.1537dup, XM_047417475.1:c.1086dup, XM_047417474.1:c.1086dup, XM_047417476.1:c.1086dup, XM_047417478.1:c.534dup, XM_047417477.1:c.534dup, XM_047417472.1:c.1086dup, XM_047417471.1:c.1086dup, XM_047417479.1:c.1086dup, NP_071423.4:p.Glu363Ter, NP_001334816.1:p.Glu363Ter, XP_011541833.1:p.Glu363Ter, XP_011541834.1:p.Glu363Ter, XP_011541835.1:p.Glu363Ter, XP_047273431.1:p.Glu363Ter, XP_047273430.1:p.Glu363Ter, XP_047273432.1:p.Glu363Ter, XP_047273434.1:p.Glu179Ter, XP_047273433.1:p.Glu179Ter, XP_047273428.1:p.Glu363Ter, XP_047273427.1:p.Glu363Ter, XP_047273435.1:p.Glu363Ter

                          13.

                          rs1476593802 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            5:112209950 (GRCh38)
                            5:111545647 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:112209949:T:C
                            Gene:
                            EPB41L4A (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.000047/1 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000005.10:g.112209950T>C, NC_000005.9:g.111545647T>C, NG_052950.1:g.214367A>G, NM_022140.5:c.1120A>G, NM_022140.4:c.1120A>G, NM_022140.3:c.1120A>G, NR_144931.2:n.1358A>G, NR_144931.1:n.1397A>G, NM_001347887.2:c.1120A>G, NM_001347887.1:c.1120A>G, XM_011543531.4:c.1120A>G, XM_011543531.3:c.1120A>G, XM_011543531.2:c.1120A>G, XM_011543531.1:c.1120A>G, XM_011543532.3:c.1120A>G, XM_011543532.2:c.1120A>G, XM_011543532.1:c.1120A>G, XM_011543533.3:c.1120A>G, XM_011543533.2:c.1120A>G, XM_011543533.1:c.1120A>G, XR_001742173.3:n.1358A>G, XR_001742173.2:n.1305A>G, XR_001742173.1:n.1571A>G, XM_047417475.1:c.1120A>G, XM_047417474.1:c.1120A>G, XM_047417476.1:c.1120A>G, XM_047417478.1:c.568A>G, XM_047417477.1:c.568A>G, XM_047417472.1:c.1120A>G, XM_047417471.1:c.1120A>G, NP_071423.4:p.Met374Val, NP_001334816.1:p.Met374Val, XP_011541833.1:p.Met374Val, XP_011541834.1:p.Met374Val, XP_011541835.1:p.Met374Val, XP_047273431.1:p.Met374Val, XP_047273430.1:p.Met374Val, XP_047273432.1:p.Met374Val, XP_047273434.1:p.Met190Val, XP_047273433.1:p.Met190Val, XP_047273428.1:p.Met374Val, XP_047273427.1:p.Met374Val

                            14.

                            rs1475953959 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              CCAGGA>- [Show Flanks]
                              Chromosome:
                              5:112418985 (GRCh38)
                              5:111754682 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:112418984:CCAGGA:
                              Gene:
                              EPB41L4A-DT (Varview), EPB41L4A (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,inframe_indel,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              -=0./0 (ALFA)
                              -=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000005.10:g.112418985_112418990del, NC_000005.9:g.111754682_111754687del, NG_052950.1:g.5327_5332del, NM_022140.5:c.50_55del, NM_022140.4:c.50_55del, NM_022140.3:c.50_55del, NR_144931.2:n.288_293del, NR_144931.1:n.327_332del, NM_001347887.2:c.50_55del, NM_001347887.1:c.50_55del, NM_001347888.2:c.50_55del, NM_001347888.1:c.50_55del, XM_011543531.4:c.50_55del, XM_011543531.3:c.50_55del, XM_011543531.2:c.50_55del, XM_011543531.1:c.50_55del, XM_011543532.3:c.50_55del, XM_011543532.2:c.50_55del, XM_011543532.1:c.50_55del, XM_011543533.3:c.50_55del, XM_011543533.2:c.50_55del, XM_011543533.1:c.50_55del, XR_001742173.3:n.288_293del, XR_001742173.2:n.235_240del, XR_001742173.1:n.501_506del, XM_047417475.1:c.50_55del, XM_047417474.1:c.50_55del, XM_047417476.1:c.50_55del, XM_047417472.1:c.50_55del, XM_047417471.1:c.50_55del, XM_047417479.1:c.50_55del, NP_071423.4:p.Leu17_Asp19delinsHis, NP_001334816.1:p.Leu17_Asp19delinsHis, NP_001334817.1:p.Leu17_Asp19delinsHis, XP_011541833.1:p.Leu17_Asp19delinsHis, XP_011541834.1:p.Leu17_Asp19delinsHis, XP_011541835.1:p.Leu17_Asp19delinsHis, XP_047273431.1:p.Leu17_Asp19delinsHis, XP_047273430.1:p.Leu17_Asp19delinsHis, XP_047273432.1:p.Leu17_Asp19delinsHis, XP_047273428.1:p.Leu17_Asp19delinsHis, XP_047273427.1:p.Leu17_Asp19delinsHis, XP_047273435.1:p.Leu17_Asp19delinsHis

                              15.

                              rs1475721294 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->A [Show Flanks]
                                Chromosome:
                                5:112240786 (GRCh38)
                                5:111576484 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:112240786:AAAAAA:AAAAAAA
                                Gene:
                                EPB41L4A (Varview), LOC101927023 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,stop_gained,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                                HGVS:
                                NC_000005.10:g.112240792dup, NC_000005.9:g.111576489dup, NG_052950.1:g.183530dup, NM_022140.5:c.819dup, NM_022140.4:c.819dup, NM_022140.3:c.819dup, NR_144931.2:n.1057dup, NR_144931.1:n.1096dup, NM_001347887.2:c.819dup, NM_001347887.1:c.819dup, XM_011543531.4:c.819dup, XM_011543531.3:c.819dup, XM_011543531.2:c.819dup, XM_011543531.1:c.819dup, XM_011543532.3:c.819dup, XM_011543532.2:c.819dup, XM_011543532.1:c.819dup, XM_011543533.3:c.819dup, XM_011543533.2:c.819dup, XM_011543533.1:c.819dup, XR_001742173.3:n.1057dup, XR_001742173.2:n.1004dup, XR_001742173.1:n.1270dup, XM_047417475.1:c.819dup, XM_047417474.1:c.819dup, XM_047417476.1:c.819dup, XM_047417478.1:c.267dup, XM_047417477.1:c.267dup, XM_047417472.1:c.819dup, XM_047417471.1:c.819dup, XM_047417479.1:c.819dup, NP_071423.4:p.Glu274Ter, NP_001334816.1:p.Glu274Ter, XP_011541833.1:p.Glu274Ter, XP_011541834.1:p.Glu274Ter, XP_011541835.1:p.Glu274Ter, XP_047273431.1:p.Glu274Ter, XP_047273430.1:p.Glu274Ter, XP_047273432.1:p.Glu274Ter, XP_047273434.1:p.Glu90Ter, XP_047273433.1:p.Glu90Ter, XP_047273428.1:p.Glu274Ter, XP_047273427.1:p.Glu274Ter, XP_047273435.1:p.Glu274Ter

                                16.

                                rs1475555710 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  5:112143843 (GRCh38)
                                  5:111479540 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:112143842:G:A,NC_000005.10:112143842:G:T
                                  Gene:
                                  EPB41L4A (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.00034/1 (KOREAN)
                                  HGVS:
                                  NC_000005.10:g.112143843G>A, NC_000005.10:g.112143843G>T, NC_000005.9:g.111479540G>A, NC_000005.9:g.111479540G>T, NG_052950.1:g.280474C>T, NG_052950.1:g.280474C>A, NM_001347887.2:c.2057C>T, NM_001347887.2:c.2057C>A, NM_001347887.1:c.2057C>T, NM_001347887.1:c.2057C>A, XM_011543531.4:c.2057C>T, XM_011543531.4:c.2057C>A, XM_011543531.3:c.2057C>T, XM_011543531.3:c.2057C>A, XM_011543531.2:c.2057C>T, XM_011543531.2:c.2057C>A, XM_011543531.1:c.2057C>T, XM_011543531.1:c.2057C>A, XM_011543532.3:c.2088C>T, XM_011543532.3:c.2088C>A, XM_011543532.2:c.2088C>T, XM_011543532.2:c.2088C>A, XM_011543532.1:c.2088C>T, XM_011543532.1:c.2088C>A, XM_011543533.3:c.1973C>T, XM_011543533.3:c.1973C>A, XM_011543533.2:c.1973C>T, XM_011543533.2:c.1973C>A, XM_011543533.1:c.1973C>T, XM_011543533.1:c.1973C>A, XR_001742173.3:n.2326C>T, XR_001742173.3:n.2326C>A, XR_001742173.2:n.2273C>T, XR_001742173.2:n.2273C>A, XR_001742173.1:n.2539C>T, XR_001742173.1:n.2539C>A, XM_047417472.1:c.2057C>T, XM_047417472.1:c.2057C>A, XM_047417471.1:c.2057C>T, XM_047417471.1:c.2057C>A, NP_001334816.1:p.Ala686Val, NP_001334816.1:p.Ala686Glu, XP_011541833.1:p.Ala686Val, XP_011541833.1:p.Ala686Glu, XP_011541834.1:p.Ser696Arg, XP_011541835.1:p.Ala658Val, XP_011541835.1:p.Ala658Glu, XP_047273428.1:p.Ala686Val, XP_047273428.1:p.Ala686Glu, XP_047273427.1:p.Ala686Val, XP_047273427.1:p.Ala686Glu

                                  17.

                                  rs1474446883 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    5:112419024 (GRCh38)
                                    5:111754721 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:112419023:C:G,NC_000005.10:112419023:C:T
                                    Gene:
                                    EPB41L4A-DT (Varview), EPB41L4A (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000224/1 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    T=0.000035/1 (TOMMO)
                                    T=0.000223/1 (Estonian)
                                    HGVS:
                                    NC_000005.10:g.112419024C>G, NC_000005.10:g.112419024C>T, NC_000005.9:g.111754721C>G, NC_000005.9:g.111754721C>T, NG_052950.1:g.5293G>C, NG_052950.1:g.5293G>A, NM_022140.5:c.16G>C, NM_022140.5:c.16G>A, NM_022140.4:c.16G>C, NM_022140.4:c.16G>A, NM_022140.3:c.16G>C, NM_022140.3:c.16G>A, NR_144931.2:n.254G>C, NR_144931.2:n.254G>A, NR_144931.1:n.293G>C, NR_144931.1:n.293G>A, NM_001347887.2:c.16G>C, NM_001347887.2:c.16G>A, NM_001347887.1:c.16G>C, NM_001347887.1:c.16G>A, NM_001347888.2:c.16G>C, NM_001347888.2:c.16G>A, NM_001347888.1:c.16G>C, NM_001347888.1:c.16G>A, XM_011543531.4:c.16G>C, XM_011543531.4:c.16G>A, XM_011543531.3:c.16G>C, XM_011543531.3:c.16G>A, XM_011543531.2:c.16G>C, XM_011543531.2:c.16G>A, XM_011543531.1:c.16G>C, XM_011543531.1:c.16G>A, XM_011543532.3:c.16G>C, XM_011543532.3:c.16G>A, XM_011543532.2:c.16G>C, XM_011543532.2:c.16G>A, XM_011543532.1:c.16G>C, XM_011543532.1:c.16G>A, XM_011543533.3:c.16G>C, XM_011543533.3:c.16G>A, XM_011543533.2:c.16G>C, XM_011543533.2:c.16G>A, XM_011543533.1:c.16G>C, XM_011543533.1:c.16G>A, XR_001742173.3:n.254G>C, XR_001742173.3:n.254G>A, XR_001742173.2:n.201G>C, XR_001742173.2:n.201G>A, XR_001742173.1:n.467G>C, XR_001742173.1:n.467G>A, XM_047417475.1:c.16G>C, XM_047417475.1:c.16G>A, XM_047417474.1:c.16G>C, XM_047417474.1:c.16G>A, XM_047417476.1:c.16G>C, XM_047417476.1:c.16G>A, XM_047417472.1:c.16G>C, XM_047417472.1:c.16G>A, XM_047417471.1:c.16G>C, XM_047417471.1:c.16G>A, XM_047417479.1:c.16G>C, XM_047417479.1:c.16G>A, NP_071423.4:p.Ala6Pro, NP_071423.4:p.Ala6Thr, NP_001334816.1:p.Ala6Pro, NP_001334816.1:p.Ala6Thr, NP_001334817.1:p.Ala6Pro, NP_001334817.1:p.Ala6Thr, XP_011541833.1:p.Ala6Pro, XP_011541833.1:p.Ala6Thr, XP_011541834.1:p.Ala6Pro, XP_011541834.1:p.Ala6Thr, XP_011541835.1:p.Ala6Pro, XP_011541835.1:p.Ala6Thr, XP_047273431.1:p.Ala6Pro, XP_047273431.1:p.Ala6Thr, XP_047273430.1:p.Ala6Pro, XP_047273430.1:p.Ala6Thr, XP_047273432.1:p.Ala6Pro, XP_047273432.1:p.Ala6Thr, XP_047273428.1:p.Ala6Pro, XP_047273428.1:p.Ala6Thr, XP_047273427.1:p.Ala6Pro, XP_047273427.1:p.Ala6Thr, XP_047273435.1:p.Ala6Pro, XP_047273435.1:p.Ala6Thr

                                    18.

                                    rs1472050546 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      5:112194608 (GRCh38)
                                      5:111530305 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:112194607:A:T
                                      Gene:
                                      EPB41L4A (Varview), LOC124901044 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000011/3 (TOPMED)
                                      HGVS:
                                      NC_000005.10:g.112194608A>T, NC_000005.9:g.111530305A>T, NG_052950.1:g.229709T>A, NM_022140.5:c.1462T>A, NM_022140.4:c.1462T>A, NM_022140.3:c.1462T>A, NR_144931.2:n.1700T>A, NR_144931.1:n.1739T>A, NM_001347887.2:c.1462T>A, NM_001347887.1:c.1462T>A, XM_011543531.4:c.1462T>A, XM_011543531.3:c.1462T>A, XM_011543531.2:c.1462T>A, XM_011543531.1:c.1462T>A, XM_011543532.3:c.1462T>A, XM_011543532.2:c.1462T>A, XM_011543532.1:c.1462T>A, XM_011543533.3:c.1378T>A, XM_011543533.2:c.1378T>A, XM_011543533.1:c.1378T>A, XR_001742173.3:n.1700T>A, XR_001742173.2:n.1647T>A, XR_001742173.1:n.1913T>A, XM_047417475.1:c.1462T>A, XM_047417474.1:c.1462T>A, XM_047417476.1:c.1378T>A, XM_047417478.1:c.910T>A, XM_047417477.1:c.910T>A, XM_047417472.1:c.1462T>A, XM_047417471.1:c.1462T>A, XR_007058902.1:n.12A>T, XR_007058903.1:n.4A>T, NP_071423.4:p.Ser488Thr, NP_001334816.1:p.Ser488Thr, XP_011541833.1:p.Ser488Thr, XP_011541834.1:p.Ser488Thr, XP_011541835.1:p.Ser460Thr, XP_047273431.1:p.Ser488Thr, XP_047273430.1:p.Ser488Thr, XP_047273432.1:p.Ser460Thr, XP_047273434.1:p.Ser304Thr, XP_047273433.1:p.Ser304Thr, XP_047273428.1:p.Ser488Thr, XP_047273427.1:p.Ser488Thr

                                      19.

                                      rs1469547069 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        C>- [Show Flanks]
                                        Chromosome:
                                        5:112145888 (GRCh38)
                                        5:111481585 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:112145887:CCCC:CCC
                                        Gene:
                                        EPB41L4A (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        -=0.000007/1 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1467319722 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          5:112194633 (GRCh38)
                                          5:111530330 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:112194632:G:T
                                          Gene:
                                          EPB41L4A (Varview), LOC124901044 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000005.10:g.112194633G>T, NC_000005.9:g.111530330G>T, NG_052950.1:g.229684C>A, NM_022140.5:c.1437C>A, NM_022140.4:c.1437C>A, NM_022140.3:c.1437C>A, NR_144931.2:n.1675C>A, NR_144931.1:n.1714C>A, NM_001347887.2:c.1437C>A, NM_001347887.1:c.1437C>A, XM_011543531.4:c.1437C>A, XM_011543531.3:c.1437C>A, XM_011543531.2:c.1437C>A, XM_011543531.1:c.1437C>A, XM_011543532.3:c.1437C>A, XM_011543532.2:c.1437C>A, XM_011543532.1:c.1437C>A, XM_011543533.3:c.1353C>A, XM_011543533.2:c.1353C>A, XM_011543533.1:c.1353C>A, XR_001742173.3:n.1675C>A, XR_001742173.2:n.1622C>A, XR_001742173.1:n.1888C>A, XM_047417475.1:c.1437C>A, XM_047417474.1:c.1437C>A, XM_047417476.1:c.1353C>A, XM_047417478.1:c.885C>A, XM_047417477.1:c.885C>A, XM_047417472.1:c.1437C>A, XM_047417471.1:c.1437C>A, XR_007058902.1:n.37G>T, XR_007058903.1:n.29G>T

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