U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 214

1.

rs1487354511 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    17:30484690 (GRCh38)
    17:28811708 (GRCh37)
    Canonical SPDI:
    NC_000017.11:30484689:G:T
    Gene:
    GOSR1 (Varview)
    Functional Consequence:
    stop_gained,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    NC_000017.11:g.30484690G>T, NC_000017.10:g.28811708G>T, XM_005258070.6:c.418G>T, XM_005258070.5:c.418G>T, XM_005258070.4:c.418G>T, XM_005258070.3:c.418G>T, XM_005258070.2:c.418G>T, XM_005258070.1:c.418G>T, XM_005258071.6:c.412G>T, XM_005258071.5:c.412G>T, XM_005258071.4:c.412G>T, XM_005258071.3:c.412G>T, XM_005258071.2:c.412G>T, XM_005258071.1:c.412G>T, XM_005258072.4:c.73G>T, XM_005258072.3:c.73G>T, XM_005258072.2:c.73G>T, XM_005258072.1:c.73G>T, XM_017025374.3:c.418G>T, XM_017025374.2:c.418G>T, XM_017025374.1:c.418G>T, NM_004871.3:c.268G>T, NM_004871.2:c.268G>T, XM_017025375.3:c.268G>T, XM_017025375.2:c.268G>T, XM_017025375.1:c.268G>T, XM_017025376.3:c.262G>T, XM_017025376.2:c.262G>T, XM_017025376.1:c.262G>T, NM_001007024.2:c.73G>T, NM_001007024.1:c.73G>T, NM_001007025.2:c.262G>T, NM_001007025.1:c.262G>T, XM_047437109.1:c.412G>T, XM_047437111.1:c.73G>T, XM_047437110.1:c.73G>T, XP_005258127.1:p.Glu140Ter, XP_005258128.1:p.Glu138Ter, XP_005258129.1:p.Glu25Ter, XP_016880863.1:p.Glu140Ter, NP_004862.1:p.Glu90Ter, XP_016880864.1:p.Glu90Ter, XP_016880865.1:p.Glu88Ter, NP_001007025.1:p.Glu25Ter, NP_001007026.1:p.Glu88Ter, XP_047293065.1:p.Glu138Ter, XP_047293067.1:p.Glu25Ter, XP_047293066.1:p.Glu25Ter

    2.

    rs1484750009 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      17:30484225 (GRCh38)
      17:28811243 (GRCh37)
      Canonical SPDI:
      NC_000017.11:30484224:C:A
      Gene:
      GOSR1 (Varview)
      Functional Consequence:
      5_prime_UTR_variant,coding_sequence_variant,missense_variant
      HGVS:
      NC_000017.11:g.30484225C>A, NC_000017.10:g.28811243C>A, XM_005258070.6:c.314C>A, XM_005258070.5:c.314C>A, XM_005258070.4:c.314C>A, XM_005258070.3:c.314C>A, XM_005258070.2:c.314C>A, XM_005258070.1:c.314C>A, XM_005258071.6:c.308C>A, XM_005258071.5:c.308C>A, XM_005258071.4:c.308C>A, XM_005258071.3:c.308C>A, XM_005258071.2:c.308C>A, XM_005258071.1:c.308C>A, XM_005258072.4:c.-32C>A, XM_005258072.3:c.-32C>A, XM_005258072.2:c.-32C>A, XM_005258072.1:c.-32C>A, XM_017025374.3:c.314C>A, XM_017025374.2:c.314C>A, XM_017025374.1:c.314C>A, NM_004871.3:c.164C>A, NM_004871.2:c.164C>A, XM_017025375.3:c.164C>A, XM_017025375.2:c.164C>A, XM_017025375.1:c.164C>A, XM_017025376.3:c.158C>A, XM_017025376.2:c.158C>A, XM_017025376.1:c.158C>A, NM_001007024.2:c.-32C>A, NM_001007024.1:c.-32C>A, NM_001007025.2:c.158C>A, NM_001007025.1:c.158C>A, XM_047437109.1:c.308C>A, XM_047437111.1:c.-32C>A, XM_047437110.1:c.-32C>A, XP_005258127.1:p.Thr105Lys, XP_005258128.1:p.Thr103Lys, XP_016880863.1:p.Thr105Lys, NP_004862.1:p.Thr55Lys, XP_016880864.1:p.Thr55Lys, XP_016880865.1:p.Thr53Lys, NP_001007026.1:p.Thr53Lys, XP_047293065.1:p.Thr103Lys

      3.

      rs1482310267 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        17:30519967 (GRCh38)
        17:28846985 (GRCh37)
        Canonical SPDI:
        NC_000017.11:30519966:A:G
        Gene:
        GOSR1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000017.11:g.30519967A>G, NC_000017.10:g.28846985A>G, XM_005258070.6:c.724A>G, XM_005258070.5:c.724A>G, XM_005258070.4:c.724A>G, XM_005258070.3:c.724A>G, XM_005258070.2:c.724A>G, XM_005258070.1:c.724A>G, XM_005258071.6:c.718A>G, XM_005258071.5:c.718A>G, XM_005258071.4:c.718A>G, XM_005258071.3:c.718A>G, XM_005258071.2:c.718A>G, XM_005258071.1:c.718A>G, XM_005258072.4:c.379A>G, XM_005258072.3:c.379A>G, XM_005258072.2:c.379A>G, XM_005258072.1:c.379A>G, XM_017025374.3:c.694A>G, XM_017025374.2:c.694A>G, XM_017025374.1:c.694A>G, NM_004871.3:c.574A>G, NM_004871.2:c.574A>G, XM_017025375.3:c.544A>G, XM_017025375.2:c.544A>G, XM_017025375.1:c.544A>G, XM_017025376.3:c.538A>G, XM_017025376.2:c.538A>G, XM_017025376.1:c.538A>G, NM_001007024.2:c.379A>G, NM_001007024.1:c.379A>G, NM_001007025.2:c.568A>G, NM_001007025.1:c.568A>G, XM_047437109.1:c.688A>G, XM_047437111.1:c.379A>G, XM_047437110.1:c.379A>G, XP_005258127.1:p.Thr242Ala, XP_005258128.1:p.Thr240Ala, XP_005258129.1:p.Thr127Ala, XP_016880863.1:p.Thr232Ala, NP_004862.1:p.Thr192Ala, XP_016880864.1:p.Thr182Ala, XP_016880865.1:p.Thr180Ala, NP_001007025.1:p.Thr127Ala, NP_001007026.1:p.Thr190Ala, XP_047293065.1:p.Thr230Ala, XP_047293067.1:p.Thr127Ala, XP_047293066.1:p.Thr127Ala

        4.

        rs1480107940 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          17:30484744 (GRCh38)
          17:28811762 (GRCh37)
          Canonical SPDI:
          NC_000017.11:30484743:T:A
          Gene:
          GOSR1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          HGVS:
          NC_000017.11:g.30484744T>A, NC_000017.10:g.28811762T>A, XM_005258070.6:c.472T>A, XM_005258070.5:c.472T>A, XM_005258070.4:c.472T>A, XM_005258070.3:c.472T>A, XM_005258070.2:c.472T>A, XM_005258070.1:c.472T>A, XM_005258071.6:c.466T>A, XM_005258071.5:c.466T>A, XM_005258071.4:c.466T>A, XM_005258071.3:c.466T>A, XM_005258071.2:c.466T>A, XM_005258071.1:c.466T>A, XM_005258072.4:c.127T>A, XM_005258072.3:c.127T>A, XM_005258072.2:c.127T>A, XM_005258072.1:c.127T>A, XM_017025374.3:c.472T>A, XM_017025374.2:c.472T>A, XM_017025374.1:c.472T>A, NM_004871.3:c.322T>A, NM_004871.2:c.322T>A, XM_017025375.3:c.322T>A, XM_017025375.2:c.322T>A, XM_017025375.1:c.322T>A, XM_017025376.3:c.316T>A, XM_017025376.2:c.316T>A, XM_017025376.1:c.316T>A, NM_001007024.2:c.127T>A, NM_001007024.1:c.127T>A, NM_001007025.2:c.316T>A, NM_001007025.1:c.316T>A, XM_047437109.1:c.466T>A, XM_047437111.1:c.127T>A, XM_047437110.1:c.127T>A, XP_005258127.1:p.Leu158Ile, XP_005258128.1:p.Leu156Ile, XP_005258129.1:p.Leu43Ile, XP_016880863.1:p.Leu158Ile, NP_004862.1:p.Leu108Ile, XP_016880864.1:p.Leu108Ile, XP_016880865.1:p.Leu106Ile, NP_001007025.1:p.Leu43Ile, NP_001007026.1:p.Leu106Ile, XP_047293065.1:p.Leu156Ile, XP_047293067.1:p.Leu43Ile, XP_047293066.1:p.Leu43Ile

          5.

          rs1475376343 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            17:30477441 (GRCh38)
            17:28804459 (GRCh37)
            Canonical SPDI:
            NC_000017.11:30477440:C:T
            Gene:
            GOSR1 (Varview)
            Functional Consequence:
            5_prime_UTR_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            T=0.000011/3 (TOPMED)
            HGVS:

            6.

            rs1473872398 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              17:30519985 (GRCh38)
              17:28847003 (GRCh37)
              Canonical SPDI:
              NC_000017.11:30519984:T:C
              Gene:
              GOSR1 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000017.11:g.30519985T>C, NC_000017.10:g.28847003T>C, XM_005258070.6:c.742T>C, XM_005258070.5:c.742T>C, XM_005258070.4:c.742T>C, XM_005258070.3:c.742T>C, XM_005258070.2:c.742T>C, XM_005258070.1:c.742T>C, XM_005258071.6:c.736T>C, XM_005258071.5:c.736T>C, XM_005258071.4:c.736T>C, XM_005258071.3:c.736T>C, XM_005258071.2:c.736T>C, XM_005258071.1:c.736T>C, XM_005258072.4:c.397T>C, XM_005258072.3:c.397T>C, XM_005258072.2:c.397T>C, XM_005258072.1:c.397T>C, XM_017025374.3:c.712T>C, XM_017025374.2:c.712T>C, XM_017025374.1:c.712T>C, NM_004871.3:c.592T>C, NM_004871.2:c.592T>C, XM_017025375.3:c.562T>C, XM_017025375.2:c.562T>C, XM_017025375.1:c.562T>C, XM_017025376.3:c.556T>C, XM_017025376.2:c.556T>C, XM_017025376.1:c.556T>C, NM_001007024.2:c.397T>C, NM_001007024.1:c.397T>C, NM_001007025.2:c.586T>C, NM_001007025.1:c.586T>C, XM_047437109.1:c.706T>C, XM_047437111.1:c.397T>C, XM_047437110.1:c.397T>C

              7.

              rs1473695458 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                17:30490135 (GRCh38)
                17:28817153 (GRCh37)
                Canonical SPDI:
                NC_000017.11:30490134:C:G,NC_000017.11:30490134:C:T
                Gene:
                GOSR1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000028/1 (ALFA)
                G=0.000011/3 (TOPMED)
                HGVS:
                NC_000017.11:g.30490135C>G, NC_000017.11:g.30490135C>T, NC_000017.10:g.28817153C>G, NC_000017.10:g.28817153C>T, XM_005258070.6:c.508C>G, XM_005258070.6:c.508C>T, XM_005258070.5:c.508C>G, XM_005258070.5:c.508C>T, XM_005258070.4:c.508C>G, XM_005258070.4:c.508C>T, XM_005258070.3:c.508C>G, XM_005258070.3:c.508C>T, XM_005258070.2:c.508C>G, XM_005258070.2:c.508C>T, XM_005258070.1:c.508C>G, XM_005258070.1:c.508C>T, XM_005258071.6:c.502C>G, XM_005258071.6:c.502C>T, XM_005258071.5:c.502C>G, XM_005258071.5:c.502C>T, XM_005258071.4:c.502C>G, XM_005258071.4:c.502C>T, XM_005258071.3:c.502C>G, XM_005258071.3:c.502C>T, XM_005258071.2:c.502C>G, XM_005258071.2:c.502C>T, XM_005258071.1:c.502C>G, XM_005258071.1:c.502C>T, XM_005258072.4:c.163C>G, XM_005258072.4:c.163C>T, XM_005258072.3:c.163C>G, XM_005258072.3:c.163C>T, XM_005258072.2:c.163C>G, XM_005258072.2:c.163C>T, XM_005258072.1:c.163C>G, XM_005258072.1:c.163C>T, XM_017025374.3:c.508C>G, XM_017025374.3:c.508C>T, XM_017025374.2:c.508C>G, XM_017025374.2:c.508C>T, XM_017025374.1:c.508C>G, XM_017025374.1:c.508C>T, NM_004871.3:c.358C>G, NM_004871.3:c.358C>T, NM_004871.2:c.358C>G, NM_004871.2:c.358C>T, XM_017025375.3:c.358C>G, XM_017025375.3:c.358C>T, XM_017025375.2:c.358C>G, XM_017025375.2:c.358C>T, XM_017025375.1:c.358C>G, XM_017025375.1:c.358C>T, XM_017025376.3:c.352C>G, XM_017025376.3:c.352C>T, XM_017025376.2:c.352C>G, XM_017025376.2:c.352C>T, XM_017025376.1:c.352C>G, XM_017025376.1:c.352C>T, NM_001007024.2:c.163C>G, NM_001007024.2:c.163C>T, NM_001007024.1:c.163C>G, NM_001007024.1:c.163C>T, NM_001007025.2:c.352C>G, NM_001007025.2:c.352C>T, NM_001007025.1:c.352C>G, NM_001007025.1:c.352C>T, XM_047437109.1:c.502C>G, XM_047437109.1:c.502C>T, XM_047437111.1:c.163C>G, XM_047437111.1:c.163C>T, XM_047437110.1:c.163C>G, XM_047437110.1:c.163C>T, XP_005258127.1:p.His170Asp, XP_005258127.1:p.His170Tyr, XP_005258128.1:p.His168Asp, XP_005258128.1:p.His168Tyr, XP_005258129.1:p.His55Asp, XP_005258129.1:p.His55Tyr, XP_016880863.1:p.His170Asp, XP_016880863.1:p.His170Tyr, NP_004862.1:p.His120Asp, NP_004862.1:p.His120Tyr, XP_016880864.1:p.His120Asp, XP_016880864.1:p.His120Tyr, XP_016880865.1:p.His118Asp, XP_016880865.1:p.His118Tyr, NP_001007025.1:p.His55Asp, NP_001007025.1:p.His55Tyr, NP_001007026.1:p.His118Asp, NP_001007026.1:p.His118Tyr, XP_047293065.1:p.His168Asp, XP_047293065.1:p.His168Tyr, XP_047293067.1:p.His55Asp, XP_047293067.1:p.His55Tyr, XP_047293066.1:p.His55Asp, XP_047293066.1:p.His55Tyr

                8.

                rs1457226059 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  17:30490212 (GRCh38)
                  17:28817230 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:30490211:T:C
                  Gene:
                  GOSR1 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000031/1 (ALFA)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000017.11:g.30490212T>C, NC_000017.10:g.28817230T>C, XM_005258070.6:c.585T>C, XM_005258070.5:c.585T>C, XM_005258070.4:c.585T>C, XM_005258070.3:c.585T>C, XM_005258070.2:c.585T>C, XM_005258070.1:c.585T>C, XM_005258071.6:c.579T>C, XM_005258071.5:c.579T>C, XM_005258071.4:c.579T>C, XM_005258071.3:c.579T>C, XM_005258071.2:c.579T>C, XM_005258071.1:c.579T>C, XM_005258072.4:c.240T>C, XM_005258072.3:c.240T>C, XM_005258072.2:c.240T>C, XM_005258072.1:c.240T>C, XM_017025374.3:c.585T>C, XM_017025374.2:c.585T>C, XM_017025374.1:c.585T>C, NM_004871.3:c.435T>C, NM_004871.2:c.435T>C, XM_017025375.3:c.435T>C, XM_017025375.2:c.435T>C, XM_017025375.1:c.435T>C, XM_017025376.3:c.429T>C, XM_017025376.2:c.429T>C, XM_017025376.1:c.429T>C, NM_001007024.2:c.240T>C, NM_001007024.1:c.240T>C, NM_001007025.2:c.429T>C, NM_001007025.1:c.429T>C, XM_047437109.1:c.579T>C, XM_047437111.1:c.240T>C, XM_047437110.1:c.240T>C

                  9.

                  rs1452037773 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,G,T [Show Flanks]
                    Chromosome:
                    17:30484273 (GRCh38)
                    17:28811291 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:30484272:C:A,NC_000017.11:30484272:C:G,NC_000017.11:30484272:C:T
                    Gene:
                    GOSR1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000017.11:g.30484273C>A, NC_000017.11:g.30484273C>G, NC_000017.11:g.30484273C>T, NC_000017.10:g.28811291C>A, NC_000017.10:g.28811291C>G, NC_000017.10:g.28811291C>T, XM_005258070.6:c.362C>A, XM_005258070.6:c.362C>G, XM_005258070.6:c.362C>T, XM_005258070.5:c.362C>A, XM_005258070.5:c.362C>G, XM_005258070.5:c.362C>T, XM_005258070.4:c.362C>A, XM_005258070.4:c.362C>G, XM_005258070.4:c.362C>T, XM_005258070.3:c.362C>A, XM_005258070.3:c.362C>G, XM_005258070.3:c.362C>T, XM_005258070.2:c.362C>A, XM_005258070.2:c.362C>G, XM_005258070.2:c.362C>T, XM_005258070.1:c.362C>A, XM_005258070.1:c.362C>G, XM_005258070.1:c.362C>T, XM_005258071.6:c.356C>A, XM_005258071.6:c.356C>G, XM_005258071.6:c.356C>T, XM_005258071.5:c.356C>A, XM_005258071.5:c.356C>G, XM_005258071.5:c.356C>T, XM_005258071.4:c.356C>A, XM_005258071.4:c.356C>G, XM_005258071.4:c.356C>T, XM_005258071.3:c.356C>A, XM_005258071.3:c.356C>G, XM_005258071.3:c.356C>T, XM_005258071.2:c.356C>A, XM_005258071.2:c.356C>G, XM_005258071.2:c.356C>T, XM_005258071.1:c.356C>A, XM_005258071.1:c.356C>G, XM_005258071.1:c.356C>T, XM_005258072.4:c.17C>A, XM_005258072.4:c.17C>G, XM_005258072.4:c.17C>T, XM_005258072.3:c.17C>A, XM_005258072.3:c.17C>G, XM_005258072.3:c.17C>T, XM_005258072.2:c.17C>A, XM_005258072.2:c.17C>G, XM_005258072.2:c.17C>T, XM_005258072.1:c.17C>A, XM_005258072.1:c.17C>G, XM_005258072.1:c.17C>T, XM_017025374.3:c.362C>A, XM_017025374.3:c.362C>G, XM_017025374.3:c.362C>T, XM_017025374.2:c.362C>A, XM_017025374.2:c.362C>G, XM_017025374.2:c.362C>T, XM_017025374.1:c.362C>A, XM_017025374.1:c.362C>G, XM_017025374.1:c.362C>T, NM_004871.3:c.212C>A, NM_004871.3:c.212C>G, NM_004871.3:c.212C>T, NM_004871.2:c.212C>A, NM_004871.2:c.212C>G, NM_004871.2:c.212C>T, XM_017025375.3:c.212C>A, XM_017025375.3:c.212C>G, XM_017025375.3:c.212C>T, XM_017025375.2:c.212C>A, XM_017025375.2:c.212C>G, XM_017025375.2:c.212C>T, XM_017025375.1:c.212C>A, XM_017025375.1:c.212C>G, XM_017025375.1:c.212C>T, XM_017025376.3:c.206C>A, XM_017025376.3:c.206C>G, XM_017025376.3:c.206C>T, XM_017025376.2:c.206C>A, XM_017025376.2:c.206C>G, XM_017025376.2:c.206C>T, XM_017025376.1:c.206C>A, XM_017025376.1:c.206C>G, XM_017025376.1:c.206C>T, NM_001007024.2:c.17C>A, NM_001007024.2:c.17C>G, NM_001007024.2:c.17C>T, NM_001007024.1:c.17C>A, NM_001007024.1:c.17C>G, NM_001007024.1:c.17C>T, NM_001007025.2:c.206C>A, NM_001007025.2:c.206C>G, NM_001007025.2:c.206C>T, NM_001007025.1:c.206C>A, NM_001007025.1:c.206C>G, NM_001007025.1:c.206C>T, XM_047437109.1:c.356C>A, XM_047437109.1:c.356C>G, XM_047437109.1:c.356C>T, XM_047437111.1:c.17C>A, XM_047437111.1:c.17C>G, XM_047437111.1:c.17C>T, XM_047437110.1:c.17C>A, XM_047437110.1:c.17C>G, XM_047437110.1:c.17C>T, XP_005258127.1:p.Ala121Glu, XP_005258127.1:p.Ala121Gly, XP_005258127.1:p.Ala121Val, XP_005258128.1:p.Ala119Glu, XP_005258128.1:p.Ala119Gly, XP_005258128.1:p.Ala119Val, XP_005258129.1:p.Ala6Glu, XP_005258129.1:p.Ala6Gly, XP_005258129.1:p.Ala6Val, XP_016880863.1:p.Ala121Glu, XP_016880863.1:p.Ala121Gly, XP_016880863.1:p.Ala121Val, NP_004862.1:p.Ala71Glu, NP_004862.1:p.Ala71Gly, NP_004862.1:p.Ala71Val, XP_016880864.1:p.Ala71Glu, XP_016880864.1:p.Ala71Gly, XP_016880864.1:p.Ala71Val, XP_016880865.1:p.Ala69Glu, XP_016880865.1:p.Ala69Gly, XP_016880865.1:p.Ala69Val, NP_001007025.1:p.Ala6Glu, NP_001007025.1:p.Ala6Gly, NP_001007025.1:p.Ala6Val, NP_001007026.1:p.Ala69Glu, NP_001007026.1:p.Ala69Gly, NP_001007026.1:p.Ala69Val, XP_047293065.1:p.Ala119Glu, XP_047293065.1:p.Ala119Gly, XP_047293065.1:p.Ala119Val, XP_047293067.1:p.Ala6Glu, XP_047293067.1:p.Ala6Gly, XP_047293067.1:p.Ala6Val, XP_047293066.1:p.Ala6Glu, XP_047293066.1:p.Ala6Gly, XP_047293066.1:p.Ala6Val

                    10.

                    rs1449027936 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G,T [Show Flanks]
                      Chromosome:
                      17:30490136 (GRCh38)
                      17:28817154 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:30490135:A:G,NC_000017.11:30490135:A:T
                      Gene:
                      GOSR1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000066/1 (ALFA)
                      G=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000017.11:g.30490136A>G, NC_000017.11:g.30490136A>T, NC_000017.10:g.28817154A>G, NC_000017.10:g.28817154A>T, XM_005258070.6:c.509A>G, XM_005258070.6:c.509A>T, XM_005258070.5:c.509A>G, XM_005258070.5:c.509A>T, XM_005258070.4:c.509A>G, XM_005258070.4:c.509A>T, XM_005258070.3:c.509A>G, XM_005258070.3:c.509A>T, XM_005258070.2:c.509A>G, XM_005258070.2:c.509A>T, XM_005258070.1:c.509A>G, XM_005258070.1:c.509A>T, XM_005258071.6:c.503A>G, XM_005258071.6:c.503A>T, XM_005258071.5:c.503A>G, XM_005258071.5:c.503A>T, XM_005258071.4:c.503A>G, XM_005258071.4:c.503A>T, XM_005258071.3:c.503A>G, XM_005258071.3:c.503A>T, XM_005258071.2:c.503A>G, XM_005258071.2:c.503A>T, XM_005258071.1:c.503A>G, XM_005258071.1:c.503A>T, XM_005258072.4:c.164A>G, XM_005258072.4:c.164A>T, XM_005258072.3:c.164A>G, XM_005258072.3:c.164A>T, XM_005258072.2:c.164A>G, XM_005258072.2:c.164A>T, XM_005258072.1:c.164A>G, XM_005258072.1:c.164A>T, XM_017025374.3:c.509A>G, XM_017025374.3:c.509A>T, XM_017025374.2:c.509A>G, XM_017025374.2:c.509A>T, XM_017025374.1:c.509A>G, XM_017025374.1:c.509A>T, NM_004871.3:c.359A>G, NM_004871.3:c.359A>T, NM_004871.2:c.359A>G, NM_004871.2:c.359A>T, XM_017025375.3:c.359A>G, XM_017025375.3:c.359A>T, XM_017025375.2:c.359A>G, XM_017025375.2:c.359A>T, XM_017025375.1:c.359A>G, XM_017025375.1:c.359A>T, XM_017025376.3:c.353A>G, XM_017025376.3:c.353A>T, XM_017025376.2:c.353A>G, XM_017025376.2:c.353A>T, XM_017025376.1:c.353A>G, XM_017025376.1:c.353A>T, NM_001007024.2:c.164A>G, NM_001007024.2:c.164A>T, NM_001007024.1:c.164A>G, NM_001007024.1:c.164A>T, NM_001007025.2:c.353A>G, NM_001007025.2:c.353A>T, NM_001007025.1:c.353A>G, NM_001007025.1:c.353A>T, XM_047437109.1:c.503A>G, XM_047437109.1:c.503A>T, XM_047437111.1:c.164A>G, XM_047437111.1:c.164A>T, XM_047437110.1:c.164A>G, XM_047437110.1:c.164A>T, XP_005258127.1:p.His170Arg, XP_005258127.1:p.His170Leu, XP_005258128.1:p.His168Arg, XP_005258128.1:p.His168Leu, XP_005258129.1:p.His55Arg, XP_005258129.1:p.His55Leu, XP_016880863.1:p.His170Arg, XP_016880863.1:p.His170Leu, NP_004862.1:p.His120Arg, NP_004862.1:p.His120Leu, XP_016880864.1:p.His120Arg, XP_016880864.1:p.His120Leu, XP_016880865.1:p.His118Arg, XP_016880865.1:p.His118Leu, NP_001007025.1:p.His55Arg, NP_001007025.1:p.His55Leu, NP_001007026.1:p.His118Arg, NP_001007026.1:p.His118Leu, XP_047293065.1:p.His168Arg, XP_047293065.1:p.His168Leu, XP_047293067.1:p.His55Arg, XP_047293067.1:p.His55Leu, XP_047293066.1:p.His55Arg, XP_047293066.1:p.His55Leu

                      11.

                      rs1448648459 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        17:30484294 (GRCh38)
                        17:28811312 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:30484293:T:C
                        Gene:
                        GOSR1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        HGVS:
                        NC_000017.11:g.30484294T>C, NC_000017.10:g.28811312T>C, XM_005258070.6:c.383T>C, XM_005258070.5:c.383T>C, XM_005258070.4:c.383T>C, XM_005258070.3:c.383T>C, XM_005258070.2:c.383T>C, XM_005258070.1:c.383T>C, XM_005258071.6:c.377T>C, XM_005258071.5:c.377T>C, XM_005258071.4:c.377T>C, XM_005258071.3:c.377T>C, XM_005258071.2:c.377T>C, XM_005258071.1:c.377T>C, XM_005258072.4:c.38T>C, XM_005258072.3:c.38T>C, XM_005258072.2:c.38T>C, XM_005258072.1:c.38T>C, XM_017025374.3:c.383T>C, XM_017025374.2:c.383T>C, XM_017025374.1:c.383T>C, NM_004871.3:c.233T>C, NM_004871.2:c.233T>C, XM_017025375.3:c.233T>C, XM_017025375.2:c.233T>C, XM_017025375.1:c.233T>C, XM_017025376.3:c.227T>C, XM_017025376.2:c.227T>C, XM_017025376.1:c.227T>C, NM_001007024.2:c.38T>C, NM_001007024.1:c.38T>C, NM_001007025.2:c.227T>C, NM_001007025.1:c.227T>C, XM_047437109.1:c.377T>C, XM_047437111.1:c.38T>C, XM_047437110.1:c.38T>C, XP_005258127.1:p.Leu128Ser, XP_005258128.1:p.Leu126Ser, XP_005258129.1:p.Leu13Ser, XP_016880863.1:p.Leu128Ser, NP_004862.1:p.Leu78Ser, XP_016880864.1:p.Leu78Ser, XP_016880865.1:p.Leu76Ser, NP_001007025.1:p.Leu13Ser, NP_001007026.1:p.Leu76Ser, XP_047293065.1:p.Leu126Ser, XP_047293067.1:p.Leu13Ser, XP_047293066.1:p.Leu13Ser

                        12.

                        rs1446764448 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          17:30522325 (GRCh38)
                          17:28849343 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:30522324:G:A
                          Gene:
                          GOSR1 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          HGVS:
                          NC_000017.11:g.30522325G>A, NC_000017.10:g.28849343G>A, XM_005258070.6:c.850G>A, XM_005258070.5:c.850G>A, XM_005258070.4:c.850G>A, XM_005258070.3:c.850G>A, XM_005258070.2:c.850G>A, XM_005258070.1:c.850G>A, XM_005258071.6:c.844G>A, XM_005258071.5:c.844G>A, XM_005258071.4:c.844G>A, XM_005258071.3:c.844G>A, XM_005258071.2:c.844G>A, XM_005258071.1:c.844G>A, XM_005258072.4:c.505G>A, XM_005258072.3:c.505G>A, XM_005258072.2:c.505G>A, XM_005258072.1:c.505G>A, XM_017025374.3:c.820G>A, XM_017025374.2:c.820G>A, XM_017025374.1:c.820G>A, NM_004871.3:c.700G>A, NM_004871.2:c.700G>A, XM_017025375.3:c.670G>A, XM_017025375.2:c.670G>A, XM_017025375.1:c.670G>A, XM_017025376.3:c.664G>A, XM_017025376.2:c.664G>A, XM_017025376.1:c.664G>A, NM_001007024.2:c.505G>A, NM_001007024.1:c.505G>A, NM_001007025.2:c.694G>A, NM_001007025.1:c.694G>A, XM_047437109.1:c.814G>A, XM_047437111.1:c.505G>A, XM_047437110.1:c.505G>A, XP_005258127.1:p.Gly284Arg, XP_005258128.1:p.Gly282Arg, XP_005258129.1:p.Gly169Arg, XP_016880863.1:p.Gly274Arg, NP_004862.1:p.Gly234Arg, XP_016880864.1:p.Gly224Arg, XP_016880865.1:p.Gly222Arg, NP_001007025.1:p.Gly169Arg, NP_001007026.1:p.Gly232Arg, XP_047293065.1:p.Gly272Arg, XP_047293067.1:p.Gly169Arg, XP_047293066.1:p.Gly169Arg

                          13.

                          rs1439486579 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            17:30490187 (GRCh38)
                            17:28817205 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:30490186:A:C
                            Gene:
                            GOSR1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000017.11:g.30490187A>C, NC_000017.10:g.28817205A>C, XM_005258070.6:c.560A>C, XM_005258070.5:c.560A>C, XM_005258070.4:c.560A>C, XM_005258070.3:c.560A>C, XM_005258070.2:c.560A>C, XM_005258070.1:c.560A>C, XM_005258071.6:c.554A>C, XM_005258071.5:c.554A>C, XM_005258071.4:c.554A>C, XM_005258071.3:c.554A>C, XM_005258071.2:c.554A>C, XM_005258071.1:c.554A>C, XM_005258072.4:c.215A>C, XM_005258072.3:c.215A>C, XM_005258072.2:c.215A>C, XM_005258072.1:c.215A>C, XM_017025374.3:c.560A>C, XM_017025374.2:c.560A>C, XM_017025374.1:c.560A>C, NM_004871.3:c.410A>C, NM_004871.2:c.410A>C, XM_017025375.3:c.410A>C, XM_017025375.2:c.410A>C, XM_017025375.1:c.410A>C, XM_017025376.3:c.404A>C, XM_017025376.2:c.404A>C, XM_017025376.1:c.404A>C, NM_001007024.2:c.215A>C, NM_001007024.1:c.215A>C, NM_001007025.2:c.404A>C, NM_001007025.1:c.404A>C, XM_047437109.1:c.554A>C, XM_047437111.1:c.215A>C, XM_047437110.1:c.215A>C, XP_005258127.1:p.Asn187Thr, XP_005258128.1:p.Asn185Thr, XP_005258129.1:p.Asn72Thr, XP_016880863.1:p.Asn187Thr, NP_004862.1:p.Asn137Thr, XP_016880864.1:p.Asn137Thr, XP_016880865.1:p.Asn135Thr, NP_001007025.1:p.Asn72Thr, NP_001007026.1:p.Asn135Thr, XP_047293065.1:p.Asn185Thr, XP_047293067.1:p.Asn72Thr, XP_047293066.1:p.Asn72Thr

                            14.

                            rs1426481426 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C,T [Show Flanks]
                              Chromosome:
                              17:30522319 (GRCh38)
                              17:28849337 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:30522318:A:C,NC_000017.11:30522318:A:T
                              Gene:
                              GOSR1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              C=0.001092/2 (Korea1K)
                              HGVS:
                              NC_000017.11:g.30522319A>C, NC_000017.11:g.30522319A>T, NC_000017.10:g.28849337A>C, NC_000017.10:g.28849337A>T, XM_005258070.6:c.844A>C, XM_005258070.6:c.844A>T, XM_005258070.5:c.844A>C, XM_005258070.5:c.844A>T, XM_005258070.4:c.844A>C, XM_005258070.4:c.844A>T, XM_005258070.3:c.844A>C, XM_005258070.3:c.844A>T, XM_005258070.2:c.844A>C, XM_005258070.2:c.844A>T, XM_005258070.1:c.844A>C, XM_005258070.1:c.844A>T, XM_005258071.6:c.838A>C, XM_005258071.6:c.838A>T, XM_005258071.5:c.838A>C, XM_005258071.5:c.838A>T, XM_005258071.4:c.838A>C, XM_005258071.4:c.838A>T, XM_005258071.3:c.838A>C, XM_005258071.3:c.838A>T, XM_005258071.2:c.838A>C, XM_005258071.2:c.838A>T, XM_005258071.1:c.838A>C, XM_005258071.1:c.838A>T, XM_005258072.4:c.499A>C, XM_005258072.4:c.499A>T, XM_005258072.3:c.499A>C, XM_005258072.3:c.499A>T, XM_005258072.2:c.499A>C, XM_005258072.2:c.499A>T, XM_005258072.1:c.499A>C, XM_005258072.1:c.499A>T, XM_017025374.3:c.814A>C, XM_017025374.3:c.814A>T, XM_017025374.2:c.814A>C, XM_017025374.2:c.814A>T, XM_017025374.1:c.814A>C, XM_017025374.1:c.814A>T, NM_004871.3:c.694A>C, NM_004871.3:c.694A>T, NM_004871.2:c.694A>C, NM_004871.2:c.694A>T, XM_017025375.3:c.664A>C, XM_017025375.3:c.664A>T, XM_017025375.2:c.664A>C, XM_017025375.2:c.664A>T, XM_017025375.1:c.664A>C, XM_017025375.1:c.664A>T, XM_017025376.3:c.658A>C, XM_017025376.3:c.658A>T, XM_017025376.2:c.658A>C, XM_017025376.2:c.658A>T, XM_017025376.1:c.658A>C, XM_017025376.1:c.658A>T, NM_001007024.2:c.499A>C, NM_001007024.2:c.499A>T, NM_001007024.1:c.499A>C, NM_001007024.1:c.499A>T, NM_001007025.2:c.688A>C, NM_001007025.2:c.688A>T, NM_001007025.1:c.688A>C, NM_001007025.1:c.688A>T, XM_047437109.1:c.808A>C, XM_047437109.1:c.808A>T, XM_047437111.1:c.499A>C, XM_047437111.1:c.499A>T, XM_047437110.1:c.499A>C, XM_047437110.1:c.499A>T, XP_005258127.1:p.Ile282Leu, XP_005258127.1:p.Ile282Phe, XP_005258128.1:p.Ile280Leu, XP_005258128.1:p.Ile280Phe, XP_005258129.1:p.Ile167Leu, XP_005258129.1:p.Ile167Phe, XP_016880863.1:p.Ile272Leu, XP_016880863.1:p.Ile272Phe, NP_004862.1:p.Ile232Leu, NP_004862.1:p.Ile232Phe, XP_016880864.1:p.Ile222Leu, XP_016880864.1:p.Ile222Phe, XP_016880865.1:p.Ile220Leu, XP_016880865.1:p.Ile220Phe, NP_001007025.1:p.Ile167Leu, NP_001007025.1:p.Ile167Phe, NP_001007026.1:p.Ile230Leu, NP_001007026.1:p.Ile230Phe, XP_047293065.1:p.Ile270Leu, XP_047293065.1:p.Ile270Phe, XP_047293067.1:p.Ile167Leu, XP_047293067.1:p.Ile167Phe, XP_047293066.1:p.Ile167Leu, XP_047293066.1:p.Ile167Phe

                              15.

                              rs1426374469 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                17:30477452 (GRCh38)
                                17:28804470 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:30477451:A:G
                                Gene:
                                GOSR1 (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1424278260 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  17:30481158 (GRCh38)
                                  17:28808176 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:30481157:C:T
                                  Gene:
                                  GOSR1 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000017.11:g.30481158C>T, NC_000017.10:g.28808176C>T, XM_005258070.6:c.197C>T, XM_005258070.5:c.197C>T, XM_005258070.4:c.197C>T, XM_005258070.3:c.197C>T, XM_005258070.2:c.197C>T, XM_005258070.1:c.197C>T, XM_005258071.6:c.197C>T, XM_005258071.5:c.197C>T, XM_005258071.4:c.197C>T, XM_005258071.3:c.197C>T, XM_005258071.2:c.197C>T, XM_005258071.1:c.197C>T, XM_005258072.4:c.-149C>T, XM_005258072.3:c.-149C>T, XM_005258072.2:c.-149C>T, XM_005258072.1:c.-149C>T, XM_017025374.3:c.197C>T, XM_017025374.2:c.197C>T, XM_017025374.1:c.197C>T, NM_004871.3:c.47C>T, NM_004871.2:c.47C>T, XM_017025375.3:c.47C>T, XM_017025375.2:c.47C>T, XM_017025375.1:c.47C>T, XM_017025376.3:c.47C>T, XM_017025376.2:c.47C>T, XM_017025376.1:c.47C>T, NM_001007024.2:c.-143C>T, NM_001007024.1:c.-143C>T, NM_001007025.2:c.47C>T, NM_001007025.1:c.47C>T, XM_047437109.1:c.197C>T, XM_047437111.1:c.-149C>T, XM_047437110.1:c.-143C>T, XP_005258127.1:p.Ala66Val, XP_005258128.1:p.Ala66Val, XP_016880863.1:p.Ala66Val, NP_004862.1:p.Ala16Val, XP_016880864.1:p.Ala16Val, XP_016880865.1:p.Ala16Val, NP_001007026.1:p.Ala16Val, XP_047293065.1:p.Ala66Val

                                  17.

                                  rs1407035067 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,G [Show Flanks]
                                    Chromosome:
                                    17:30522312 (GRCh38)
                                    17:28849330 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:30522311:C:A,NC_000017.11:30522311:C:G
                                    Gene:
                                    GOSR1 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000017.11:g.30522312C>A, NC_000017.11:g.30522312C>G, NC_000017.10:g.28849330C>A, NC_000017.10:g.28849330C>G, XM_005258070.6:c.837C>A, XM_005258070.6:c.837C>G, XM_005258070.5:c.837C>A, XM_005258070.5:c.837C>G, XM_005258070.4:c.837C>A, XM_005258070.4:c.837C>G, XM_005258070.3:c.837C>A, XM_005258070.3:c.837C>G, XM_005258070.2:c.837C>A, XM_005258070.2:c.837C>G, XM_005258070.1:c.837C>A, XM_005258070.1:c.837C>G, XM_005258071.6:c.831C>A, XM_005258071.6:c.831C>G, XM_005258071.5:c.831C>A, XM_005258071.5:c.831C>G, XM_005258071.4:c.831C>A, XM_005258071.4:c.831C>G, XM_005258071.3:c.831C>A, XM_005258071.3:c.831C>G, XM_005258071.2:c.831C>A, XM_005258071.2:c.831C>G, XM_005258071.1:c.831C>A, XM_005258071.1:c.831C>G, XM_005258072.4:c.492C>A, XM_005258072.4:c.492C>G, XM_005258072.3:c.492C>A, XM_005258072.3:c.492C>G, XM_005258072.2:c.492C>A, XM_005258072.2:c.492C>G, XM_005258072.1:c.492C>A, XM_005258072.1:c.492C>G, XM_017025374.3:c.807C>A, XM_017025374.3:c.807C>G, XM_017025374.2:c.807C>A, XM_017025374.2:c.807C>G, XM_017025374.1:c.807C>A, XM_017025374.1:c.807C>G, NM_004871.3:c.687C>A, NM_004871.3:c.687C>G, NM_004871.2:c.687C>A, NM_004871.2:c.687C>G, XM_017025375.3:c.657C>A, XM_017025375.3:c.657C>G, XM_017025375.2:c.657C>A, XM_017025375.2:c.657C>G, XM_017025375.1:c.657C>A, XM_017025375.1:c.657C>G, XM_017025376.3:c.651C>A, XM_017025376.3:c.651C>G, XM_017025376.2:c.651C>A, XM_017025376.2:c.651C>G, XM_017025376.1:c.651C>A, XM_017025376.1:c.651C>G, NM_001007024.2:c.492C>A, NM_001007024.2:c.492C>G, NM_001007024.1:c.492C>A, NM_001007024.1:c.492C>G, NM_001007025.2:c.681C>A, NM_001007025.2:c.681C>G, NM_001007025.1:c.681C>A, NM_001007025.1:c.681C>G, XM_047437109.1:c.801C>A, XM_047437109.1:c.801C>G, XM_047437111.1:c.492C>A, XM_047437111.1:c.492C>G, XM_047437110.1:c.492C>A, XM_047437110.1:c.492C>G, XP_005258127.1:p.Asp279Glu, XP_005258127.1:p.Asp279Glu, XP_005258128.1:p.Asp277Glu, XP_005258128.1:p.Asp277Glu, XP_005258129.1:p.Asp164Glu, XP_005258129.1:p.Asp164Glu, XP_016880863.1:p.Asp269Glu, XP_016880863.1:p.Asp269Glu, NP_004862.1:p.Asp229Glu, NP_004862.1:p.Asp229Glu, XP_016880864.1:p.Asp219Glu, XP_016880864.1:p.Asp219Glu, XP_016880865.1:p.Asp217Glu, XP_016880865.1:p.Asp217Glu, NP_001007025.1:p.Asp164Glu, NP_001007025.1:p.Asp164Glu, NP_001007026.1:p.Asp227Glu, NP_001007026.1:p.Asp227Glu, XP_047293065.1:p.Asp267Glu, XP_047293065.1:p.Asp267Glu, XP_047293067.1:p.Asp164Glu, XP_047293067.1:p.Asp164Glu, XP_047293066.1:p.Asp164Glu, XP_047293066.1:p.Asp164Glu

                                    18.

                                    rs1406907127 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      17:30490159 (GRCh38)
                                      17:28817177 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:30490158:A:C
                                      Gene:
                                      GOSR1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000017.11:g.30490159A>C, NC_000017.10:g.28817177A>C, XM_005258070.6:c.532A>C, XM_005258070.5:c.532A>C, XM_005258070.4:c.532A>C, XM_005258070.3:c.532A>C, XM_005258070.2:c.532A>C, XM_005258070.1:c.532A>C, XM_005258071.6:c.526A>C, XM_005258071.5:c.526A>C, XM_005258071.4:c.526A>C, XM_005258071.3:c.526A>C, XM_005258071.2:c.526A>C, XM_005258071.1:c.526A>C, XM_005258072.4:c.187A>C, XM_005258072.3:c.187A>C, XM_005258072.2:c.187A>C, XM_005258072.1:c.187A>C, XM_017025374.3:c.532A>C, XM_017025374.2:c.532A>C, XM_017025374.1:c.532A>C, NM_004871.3:c.382A>C, NM_004871.2:c.382A>C, XM_017025375.3:c.382A>C, XM_017025375.2:c.382A>C, XM_017025375.1:c.382A>C, XM_017025376.3:c.376A>C, XM_017025376.2:c.376A>C, XM_017025376.1:c.376A>C, NM_001007024.2:c.187A>C, NM_001007024.1:c.187A>C, NM_001007025.2:c.376A>C, NM_001007025.1:c.376A>C, XM_047437109.1:c.526A>C, XM_047437111.1:c.187A>C, XM_047437110.1:c.187A>C, XP_005258127.1:p.Asn178His, XP_005258128.1:p.Asn176His, XP_005258129.1:p.Asn63His, XP_016880863.1:p.Asn178His, NP_004862.1:p.Asn128His, XP_016880864.1:p.Asn128His, XP_016880865.1:p.Asn126His, NP_001007025.1:p.Asn63His, NP_001007026.1:p.Asn126His, XP_047293065.1:p.Asn176His, XP_047293067.1:p.Asn63His, XP_047293066.1:p.Asn63His

                                      19.

                                      rs1399689154 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        17:30481177 (GRCh38)
                                        17:28808195 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:30481176:A:C
                                        Gene:
                                        GOSR1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000017.11:g.30481177A>C, NC_000017.10:g.28808195A>C, XM_005258070.6:c.216A>C, XM_005258070.5:c.216A>C, XM_005258070.4:c.216A>C, XM_005258070.3:c.216A>C, XM_005258070.2:c.216A>C, XM_005258070.1:c.216A>C, XM_005258071.6:c.216A>C, XM_005258071.5:c.216A>C, XM_005258071.4:c.216A>C, XM_005258071.3:c.216A>C, XM_005258071.2:c.216A>C, XM_005258071.1:c.216A>C, XM_005258072.4:c.-130A>C, XM_005258072.3:c.-130A>C, XM_005258072.2:c.-130A>C, XM_005258072.1:c.-130A>C, XM_017025374.3:c.216A>C, XM_017025374.2:c.216A>C, XM_017025374.1:c.216A>C, NM_004871.3:c.66A>C, NM_004871.2:c.66A>C, XM_017025375.3:c.66A>C, XM_017025375.2:c.66A>C, XM_017025375.1:c.66A>C, XM_017025376.3:c.66A>C, XM_017025376.2:c.66A>C, XM_017025376.1:c.66A>C, NM_001007024.2:c.-124A>C, NM_001007024.1:c.-124A>C, NM_001007025.2:c.66A>C, NM_001007025.1:c.66A>C, XM_047437109.1:c.216A>C, XM_047437111.1:c.-130A>C, XM_047437110.1:c.-124A>C, XP_005258127.1:p.Glu72Asp, XP_005258128.1:p.Glu72Asp, XP_016880863.1:p.Glu72Asp, NP_004862.1:p.Glu22Asp, XP_016880864.1:p.Glu22Asp, XP_016880865.1:p.Glu22Asp, NP_001007026.1:p.Glu22Asp, XP_047293065.1:p.Glu72Asp

                                        20.

                                        rs1386741665 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          17:30492722 (GRCh38)
                                          17:28819740 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:30492721:C:G
                                          Gene:
                                          GOSR1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000017.11:g.30492722C>G, NC_000017.10:g.28819740C>G, XM_005258070.6:c.634C>G, XM_005258070.5:c.634C>G, XM_005258070.4:c.634C>G, XM_005258070.3:c.634C>G, XM_005258070.2:c.634C>G, XM_005258070.1:c.634C>G, XM_005258071.6:c.628C>G, XM_005258071.5:c.628C>G, XM_005258071.4:c.628C>G, XM_005258071.3:c.628C>G, XM_005258071.2:c.628C>G, XM_005258071.1:c.628C>G, XM_005258072.4:c.289C>G, XM_005258072.3:c.289C>G, XM_005258072.2:c.289C>G, XM_005258072.1:c.289C>G, XM_017025374.3:c.634C>G, XM_017025374.2:c.634C>G, XM_017025374.1:c.634C>G, NM_004871.3:c.484C>G, NM_004871.2:c.484C>G, XM_017025375.3:c.484C>G, XM_017025375.2:c.484C>G, XM_017025375.1:c.484C>G, XM_017025376.3:c.478C>G, XM_017025376.2:c.478C>G, XM_017025376.1:c.478C>G, NM_001007024.2:c.289C>G, NM_001007024.1:c.289C>G, NM_001007025.2:c.478C>G, NM_001007025.1:c.478C>G, XM_047437109.1:c.628C>G, XM_047437111.1:c.289C>G, XM_047437110.1:c.289C>G, XP_005258127.1:p.Leu212Val, XP_005258128.1:p.Leu210Val, XP_005258129.1:p.Leu97Val, XP_016880863.1:p.Leu212Val, NP_004862.1:p.Leu162Val, XP_016880864.1:p.Leu162Val, XP_016880865.1:p.Leu160Val, NP_001007025.1:p.Leu97Val, NP_001007026.1:p.Leu160Val, XP_047293065.1:p.Leu210Val, XP_047293067.1:p.Leu97Val, XP_047293066.1:p.Leu97Val

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...