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Items: 1 to 20 of 678

1.

rs1489326212 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    4:155696928 (GRCh38)
    4:156618080 (GRCh37)
    Canonical SPDI:
    NC_000004.12:155696927:G:A
    Gene:
    GUCY1A1 (Varview)
    Functional Consequence:
    intron_variant,missense_variant,coding_sequence_variant
    HGVS:
    NC_000004.12:g.155696928G>A, NC_000004.11:g.156618080G>A, NG_034128.1:g.35219G>A, NM_000856.6:c.61G>A, NM_000856.5:c.61G>A, NM_001130683.4:c.61G>A, NM_001130683.3:c.61G>A, NM_001130684.3:c.61G>A, NM_001130684.2:c.61G>A, NM_001130682.3:c.61G>A, NM_001130682.2:c.61G>A, NM_001130687.3:c.61G>A, NM_001130687.2:c.61G>A, NM_001256449.2:c.61G>A, NM_001256449.1:c.61G>A, NM_001379669.1:c.61G>A, NM_001379671.1:c.61G>A, NM_001379673.1:c.61G>A, NM_001379668.1:c.61G>A, NM_001379667.1:c.61G>A, NM_001379672.1:c.61G>A, NM_001379674.1:c.61G>A, NM_001379670.1:c.61G>A, NM_001379666.1:c.61G>A, NM_001379675.1:c.61G>A, NM_001379676.1:c.61G>A, XM_047450146.1:c.61G>A, XM_047450144.1:c.61G>A, XM_047450147.1:c.292G>A, XM_047450143.1:c.61G>A, NM_001130686.1:c.61G>A, NP_000847.2:p.Ala21Thr, NP_001124155.1:p.Ala21Thr, NP_001124156.1:p.Ala21Thr, NP_001124154.1:p.Ala21Thr, NP_001124159.1:p.Ala21Thr, NP_001243378.1:p.Ala21Thr, NP_001366598.1:p.Ala21Thr, NP_001366600.1:p.Ala21Thr, NP_001366602.1:p.Ala21Thr, NP_001366597.1:p.Ala21Thr, NP_001366596.1:p.Ala21Thr, NP_001366601.1:p.Ala21Thr, NP_001366603.1:p.Ala21Thr, NP_001366599.1:p.Ala21Thr, NP_001366595.1:p.Ala21Thr, NP_001366604.1:p.Ala21Thr, NP_001366605.1:p.Ala21Thr, XP_047306102.1:p.Ala21Thr, XP_047306100.1:p.Ala21Thr, XP_047306103.1:p.Ala98Thr, XP_047306099.1:p.Ala21Thr

    2.

    rs1486514846 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      4:155710961 (GRCh38)
      4:156632113 (GRCh37)
      Canonical SPDI:
      NC_000004.12:155710960:C:G
      Gene:
      GUCY1A1 (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,missense_variant
      HGVS:
      NC_000004.12:g.155710961C>G, NC_000004.11:g.156632113C>G, NG_034128.1:g.49252C>G, NM_000856.6:c.796C>G, NM_000856.5:c.796C>G, NM_001130683.4:c.796C>G, NM_001130683.3:c.796C>G, NM_001130684.3:c.796C>G, NM_001130684.2:c.796C>G, NM_001130685.3:c.91C>G, NM_001130685.2:c.91C>G, NM_001130682.3:c.796C>G, NM_001130682.2:c.796C>G, NM_001130687.3:c.796C>G, NM_001130687.2:c.796C>G, NM_001256449.2:c.796C>G, NM_001256449.1:c.796C>G, NM_001379669.1:c.796C>G, NM_001379671.1:c.796C>G, NM_001379673.1:c.796C>G, NM_001379668.1:c.796C>G, NM_001379667.1:c.796C>G, NM_001379672.1:c.796C>G, NM_001379674.1:c.796C>G, NM_001379670.1:c.796C>G, NM_001379666.1:c.796C>G, NM_001379675.1:c.796C>G, XM_005262957.4:c.91C>G, XM_005262957.3:c.91C>G, XM_005262957.2:c.91C>G, XM_005262957.1:c.91C>G, XM_005262956.4:c.91C>G, XM_005262956.3:c.91C>G, XM_005262956.2:c.91C>G, XM_005262956.1:c.91C>G, XM_047450146.1:c.796C>G, XM_047450144.1:c.796C>G, XM_047450147.1:c.1027C>G, XM_047450143.1:c.796C>G, XM_047450148.1:c.91C>G, NM_001130686.1:c.796C>G, NP_000847.2:p.Leu266Val, NP_001124155.1:p.Leu266Val, NP_001124156.1:p.Leu266Val, NP_001124157.1:p.Leu31Val, NP_001124154.1:p.Leu266Val, NP_001124159.1:p.Leu266Val, NP_001243378.1:p.Leu266Val, NP_001366598.1:p.Leu266Val, NP_001366600.1:p.Leu266Val, NP_001366602.1:p.Leu266Val, NP_001366597.1:p.Leu266Val, NP_001366596.1:p.Leu266Val, NP_001366601.1:p.Leu266Val, NP_001366603.1:p.Leu266Val, NP_001366599.1:p.Leu266Val, NP_001366595.1:p.Leu266Val, NP_001366604.1:p.Leu266Val, XP_005263014.1:p.Leu31Val, XP_005263013.1:p.Leu31Val, XP_047306102.1:p.Leu266Val, XP_047306100.1:p.Leu266Val, XP_047306103.1:p.Leu343Val, XP_047306099.1:p.Leu266Val, XP_047306104.1:p.Leu31Val

      3.

      rs1486186130 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        4:155722179 (GRCh38)
        4:156643331 (GRCh37)
        Canonical SPDI:
        NC_000004.12:155722178:C:G
        Gene:
        GUCY1A1 (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000008/2 (TOPMED)
        G=0.000014/2 (GnomAD)
        HGVS:
        NC_000004.12:g.155722179C>G, NC_000004.11:g.156643331C>G, NG_034128.1:g.60470C>G, NM_000856.6:c.1858C>G, NM_000856.5:c.1858C>G, NM_001130683.4:c.1858C>G, NM_001130683.3:c.1858C>G, NM_001130684.3:c.1858C>G, NM_001130684.2:c.1858C>G, NM_001130685.3:c.1153C>G, NM_001130685.2:c.1153C>G, NM_001130682.3:c.1858C>G, NM_001130682.2:c.1858C>G, NM_001130687.3:c.1858C>G, NM_001130687.2:c.1858C>G, NM_001256449.2:c.1858C>G, NM_001256449.1:c.1858C>G, NM_001379669.1:c.1858C>G, NM_001379671.1:c.1858C>G, NM_001379673.1:c.1858C>G, NM_001379668.1:c.1858C>G, NM_001379667.1:c.1858C>G, NM_001379672.1:c.1858C>G, NM_001379674.1:c.1858C>G, NM_001379670.1:c.1858C>G, NM_001379666.1:c.1858C>G, NM_001379676.1:c.1351C>G, XM_005262957.4:c.1153C>G, XM_005262957.3:c.1153C>G, XM_005262957.2:c.1153C>G, XM_005262957.1:c.1153C>G, XM_005262956.4:c.1153C>G, XM_005262956.3:c.1153C>G, XM_005262956.2:c.1153C>G, XM_005262956.1:c.1153C>G, XM_047450146.1:c.1858C>G, XM_047450144.1:c.1858C>G, XM_047450147.1:c.2089C>G, XM_047450143.1:c.1858C>G, XM_047450148.1:c.1153C>G, NP_000847.2:p.Pro620Ala, NP_001124155.1:p.Pro620Ala, NP_001124156.1:p.Pro620Ala, NP_001124157.1:p.Pro385Ala, NP_001124154.1:p.Pro620Ala, NP_001124159.1:p.Pro620Ala, NP_001243378.1:p.Pro620Ala, NP_001366598.1:p.Pro620Ala, NP_001366600.1:p.Pro620Ala, NP_001366602.1:p.Pro620Ala, NP_001366597.1:p.Pro620Ala, NP_001366596.1:p.Pro620Ala, NP_001366601.1:p.Pro620Ala, NP_001366603.1:p.Pro620Ala, NP_001366599.1:p.Pro620Ala, NP_001366595.1:p.Pro620Ala, NP_001366605.1:p.Pro451Ala, XP_005263014.1:p.Pro385Ala, XP_005263013.1:p.Pro385Ala, XP_047306102.1:p.Pro620Ala, XP_047306100.1:p.Pro620Ala, XP_047306103.1:p.Pro697Ala, XP_047306099.1:p.Pro620Ala, XP_047306104.1:p.Pro385Ala

        4.

        rs1485570196 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          4:155722152 (GRCh38)
          4:156643304 (GRCh37)
          Canonical SPDI:
          NC_000004.12:155722151:A:G
          Gene:
          GUCY1A1 (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          G=0.000004/1 (TOPMED)
          HGVS:
          NC_000004.12:g.155722152A>G, NC_000004.11:g.156643304A>G, NG_034128.1:g.60443A>G, NM_000856.6:c.1831A>G, NM_000856.5:c.1831A>G, NM_001130683.4:c.1831A>G, NM_001130683.3:c.1831A>G, NM_001130684.3:c.1831A>G, NM_001130684.2:c.1831A>G, NM_001130685.3:c.1126A>G, NM_001130685.2:c.1126A>G, NM_001130682.3:c.1831A>G, NM_001130682.2:c.1831A>G, NM_001130687.3:c.1831A>G, NM_001130687.2:c.1831A>G, NM_001256449.2:c.1831A>G, NM_001256449.1:c.1831A>G, NM_001379669.1:c.1831A>G, NM_001379671.1:c.1831A>G, NM_001379673.1:c.1831A>G, NM_001379668.1:c.1831A>G, NM_001379667.1:c.1831A>G, NM_001379672.1:c.1831A>G, NM_001379674.1:c.1831A>G, NM_001379670.1:c.1831A>G, NM_001379666.1:c.1831A>G, NM_001379676.1:c.1324A>G, XM_005262957.4:c.1126A>G, XM_005262957.3:c.1126A>G, XM_005262957.2:c.1126A>G, XM_005262957.1:c.1126A>G, XM_005262956.4:c.1126A>G, XM_005262956.3:c.1126A>G, XM_005262956.2:c.1126A>G, XM_005262956.1:c.1126A>G, XM_047450146.1:c.1831A>G, XM_047450144.1:c.1831A>G, XM_047450147.1:c.2062A>G, XM_047450143.1:c.1831A>G, XM_047450148.1:c.1126A>G, NP_000847.2:p.Ser611Gly, NP_001124155.1:p.Ser611Gly, NP_001124156.1:p.Ser611Gly, NP_001124157.1:p.Ser376Gly, NP_001124154.1:p.Ser611Gly, NP_001124159.1:p.Ser611Gly, NP_001243378.1:p.Ser611Gly, NP_001366598.1:p.Ser611Gly, NP_001366600.1:p.Ser611Gly, NP_001366602.1:p.Ser611Gly, NP_001366597.1:p.Ser611Gly, NP_001366596.1:p.Ser611Gly, NP_001366601.1:p.Ser611Gly, NP_001366603.1:p.Ser611Gly, NP_001366599.1:p.Ser611Gly, NP_001366595.1:p.Ser611Gly, NP_001366605.1:p.Ser442Gly, XP_005263014.1:p.Ser376Gly, XP_005263013.1:p.Ser376Gly, XP_047306102.1:p.Ser611Gly, XP_047306100.1:p.Ser611Gly, XP_047306103.1:p.Ser688Gly, XP_047306099.1:p.Ser611Gly, XP_047306104.1:p.Ser376Gly

          5.

          rs1483349559 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            4:155697090 (GRCh38)
            4:156618242 (GRCh37)
            Canonical SPDI:
            NC_000004.12:155697089:G:A,NC_000004.12:155697089:G:T
            Gene:
            GUCY1A1 (Varview)
            Functional Consequence:
            missense_variant,5_prime_UTR_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            T=0.000007/1 (GnomAD)
            HGVS:
            NC_000004.12:g.155697090G>A, NC_000004.12:g.155697090G>T, NC_000004.11:g.156618242G>A, NC_000004.11:g.156618242G>T, NG_034128.1:g.35381G>A, NG_034128.1:g.35381G>T, NM_000856.6:c.223G>A, NM_000856.6:c.223G>T, NM_000856.5:c.223G>A, NM_000856.5:c.223G>T, NM_001130683.4:c.223G>A, NM_001130683.4:c.223G>T, NM_001130683.3:c.223G>A, NM_001130683.3:c.223G>T, NM_001130684.3:c.223G>A, NM_001130684.3:c.223G>T, NM_001130684.2:c.223G>A, NM_001130684.2:c.223G>T, NM_001130685.3:c.-483G>A, NM_001130685.3:c.-483G>T, NM_001130685.2:c.-483G>A, NM_001130685.2:c.-483G>T, NM_001130682.3:c.223G>A, NM_001130682.3:c.223G>T, NM_001130682.2:c.223G>A, NM_001130682.2:c.223G>T, NM_001130687.3:c.223G>A, NM_001130687.3:c.223G>T, NM_001130687.2:c.223G>A, NM_001130687.2:c.223G>T, NM_001256449.2:c.223G>A, NM_001256449.2:c.223G>T, NM_001256449.1:c.223G>A, NM_001256449.1:c.223G>T, NM_001379669.1:c.223G>A, NM_001379669.1:c.223G>T, NM_001379671.1:c.223G>A, NM_001379671.1:c.223G>T, NM_001379673.1:c.223G>A, NM_001379673.1:c.223G>T, NM_001379668.1:c.223G>A, NM_001379668.1:c.223G>T, NM_001379667.1:c.223G>A, NM_001379667.1:c.223G>T, NM_001379672.1:c.223G>A, NM_001379672.1:c.223G>T, NM_001379674.1:c.223G>A, NM_001379674.1:c.223G>T, NM_001379670.1:c.223G>A, NM_001379670.1:c.223G>T, NM_001379666.1:c.223G>A, NM_001379666.1:c.223G>T, NM_001379675.1:c.223G>A, NM_001379675.1:c.223G>T, NM_001379676.1:c.223G>A, NM_001379676.1:c.223G>T, XM_005262957.4:c.-483G>A, XM_005262957.4:c.-483G>T, XM_005262957.3:c.-483G>A, XM_005262957.3:c.-483G>T, XM_005262957.2:c.-483G>A, XM_005262957.2:c.-483G>T, XM_005262957.1:c.-483G>A, XM_005262957.1:c.-483G>T, XM_005262956.4:c.-483G>A, XM_005262956.4:c.-483G>T, XM_005262956.3:c.-483G>A, XM_005262956.3:c.-483G>T, XM_005262956.2:c.-483G>A, XM_005262956.2:c.-483G>T, XM_005262956.1:c.-483G>A, XM_005262956.1:c.-483G>T, XM_047450146.1:c.223G>A, XM_047450146.1:c.223G>T, XM_047450144.1:c.223G>A, XM_047450144.1:c.223G>T, XM_047450147.1:c.454G>A, XM_047450147.1:c.454G>T, XM_047450143.1:c.223G>A, XM_047450143.1:c.223G>T, XM_047450148.1:c.-483G>A, XM_047450148.1:c.-483G>T, NM_001130686.1:c.223G>A, NM_001130686.1:c.223G>T, NP_000847.2:p.Ala75Thr, NP_000847.2:p.Ala75Ser, NP_001124155.1:p.Ala75Thr, NP_001124155.1:p.Ala75Ser, NP_001124156.1:p.Ala75Thr, NP_001124156.1:p.Ala75Ser, NP_001124154.1:p.Ala75Thr, NP_001124154.1:p.Ala75Ser, NP_001124159.1:p.Ala75Thr, NP_001124159.1:p.Ala75Ser, NP_001243378.1:p.Ala75Thr, NP_001243378.1:p.Ala75Ser, NP_001366598.1:p.Ala75Thr, NP_001366598.1:p.Ala75Ser, NP_001366600.1:p.Ala75Thr, NP_001366600.1:p.Ala75Ser, NP_001366602.1:p.Ala75Thr, NP_001366602.1:p.Ala75Ser, NP_001366597.1:p.Ala75Thr, NP_001366597.1:p.Ala75Ser, NP_001366596.1:p.Ala75Thr, NP_001366596.1:p.Ala75Ser, NP_001366601.1:p.Ala75Thr, NP_001366601.1:p.Ala75Ser, NP_001366603.1:p.Ala75Thr, NP_001366603.1:p.Ala75Ser, NP_001366599.1:p.Ala75Thr, NP_001366599.1:p.Ala75Ser, NP_001366595.1:p.Ala75Thr, NP_001366595.1:p.Ala75Ser, NP_001366604.1:p.Ala75Thr, NP_001366604.1:p.Ala75Ser, NP_001366605.1:p.Ala75Thr, NP_001366605.1:p.Ala75Ser, XP_047306102.1:p.Ala75Thr, XP_047306102.1:p.Ala75Ser, XP_047306100.1:p.Ala75Thr, XP_047306100.1:p.Ala75Ser, XP_047306103.1:p.Ala152Thr, XP_047306103.1:p.Ala152Ser, XP_047306099.1:p.Ala75Thr, XP_047306099.1:p.Ala75Ser

            6.

            rs1478567629 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              4:155710856 (GRCh38)
              4:156632008 (GRCh37)
              Canonical SPDI:
              NC_000004.12:155710855:G:A
              Gene:
              GUCY1A1 (Varview)
              Functional Consequence:
              intron_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              NC_000004.12:g.155710856G>A, NC_000004.11:g.156632008G>A, NG_034128.1:g.49147G>A, NM_000856.6:c.691G>A, NM_000856.5:c.691G>A, NM_001130683.4:c.691G>A, NM_001130683.3:c.691G>A, NM_001130684.3:c.691G>A, NM_001130684.2:c.691G>A, NM_001130685.3:c.-15G>A, NM_001130685.2:c.-15G>A, NM_001130682.3:c.691G>A, NM_001130682.2:c.691G>A, NM_001130687.3:c.691G>A, NM_001130687.2:c.691G>A, NM_001256449.2:c.691G>A, NM_001256449.1:c.691G>A, NM_001379669.1:c.691G>A, NM_001379671.1:c.691G>A, NM_001379673.1:c.691G>A, NM_001379668.1:c.691G>A, NM_001379667.1:c.691G>A, NM_001379672.1:c.691G>A, NM_001379674.1:c.691G>A, NM_001379670.1:c.691G>A, NM_001379666.1:c.691G>A, NM_001379675.1:c.691G>A, XM_005262957.4:c.-15G>A, XM_005262957.3:c.-15G>A, XM_005262957.2:c.-15G>A, XM_005262957.1:c.-15G>A, XM_005262956.4:c.-15G>A, XM_005262956.3:c.-15G>A, XM_005262956.2:c.-15G>A, XM_005262956.1:c.-15G>A, XM_047450146.1:c.691G>A, XM_047450144.1:c.691G>A, XM_047450147.1:c.922G>A, XM_047450143.1:c.691G>A, XM_047450148.1:c.-15G>A, NM_001130686.1:c.691G>A, NP_000847.2:p.Val231Met, NP_001124155.1:p.Val231Met, NP_001124156.1:p.Val231Met, NP_001124154.1:p.Val231Met, NP_001124159.1:p.Val231Met, NP_001243378.1:p.Val231Met, NP_001366598.1:p.Val231Met, NP_001366600.1:p.Val231Met, NP_001366602.1:p.Val231Met, NP_001366597.1:p.Val231Met, NP_001366596.1:p.Val231Met, NP_001366601.1:p.Val231Met, NP_001366603.1:p.Val231Met, NP_001366599.1:p.Val231Met, NP_001366595.1:p.Val231Met, NP_001366604.1:p.Val231Met, XP_047306102.1:p.Val231Met, XP_047306100.1:p.Val231Met, XP_047306103.1:p.Val308Met, XP_047306099.1:p.Val231Met

              7.

              rs1476711245 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                4:155713185 (GRCh38)
                4:156634337 (GRCh37)
                Canonical SPDI:
                NC_000004.12:155713184:G:T
                Gene:
                GUCY1A1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                NC_000004.12:g.155713185G>T, NC_000004.11:g.156634337G>T, NG_034128.1:g.51476G>T, NM_000856.6:c.1174G>T, NM_000856.5:c.1174G>T, NM_001130683.4:c.1174G>T, NM_001130683.3:c.1174G>T, NM_001130684.3:c.1174G>T, NM_001130684.2:c.1174G>T, NM_001130685.3:c.469G>T, NM_001130685.2:c.469G>T, NM_001130682.3:c.1174G>T, NM_001130682.2:c.1174G>T, NM_001130687.3:c.1174G>T, NM_001130687.2:c.1174G>T, NM_001256449.2:c.1174G>T, NM_001256449.1:c.1174G>T, NM_001379669.1:c.1174G>T, NM_001379671.1:c.1174G>T, NM_001379673.1:c.1174G>T, NM_001379668.1:c.1174G>T, NM_001379667.1:c.1174G>T, NM_001379672.1:c.1174G>T, NM_001379674.1:c.1174G>T, NM_001379670.1:c.1174G>T, NM_001379666.1:c.1174G>T, NM_001379675.1:c.1174G>T, NM_001379676.1:c.667G>T, XM_005262957.4:c.469G>T, XM_005262957.3:c.469G>T, XM_005262957.2:c.469G>T, XM_005262957.1:c.469G>T, XM_005262956.4:c.469G>T, XM_005262956.3:c.469G>T, XM_005262956.2:c.469G>T, XM_005262956.1:c.469G>T, XM_047450146.1:c.1174G>T, XM_047450144.1:c.1174G>T, XM_047450147.1:c.1405G>T, XM_047450143.1:c.1174G>T, XM_047450148.1:c.469G>T, NP_000847.2:p.Asp392Tyr, NP_001124155.1:p.Asp392Tyr, NP_001124156.1:p.Asp392Tyr, NP_001124157.1:p.Asp157Tyr, NP_001124154.1:p.Asp392Tyr, NP_001124159.1:p.Asp392Tyr, NP_001243378.1:p.Asp392Tyr, NP_001366598.1:p.Asp392Tyr, NP_001366600.1:p.Asp392Tyr, NP_001366602.1:p.Asp392Tyr, NP_001366597.1:p.Asp392Tyr, NP_001366596.1:p.Asp392Tyr, NP_001366601.1:p.Asp392Tyr, NP_001366603.1:p.Asp392Tyr, NP_001366599.1:p.Asp392Tyr, NP_001366595.1:p.Asp392Tyr, NP_001366604.1:p.Asp392Tyr, NP_001366605.1:p.Asp223Tyr, XP_005263014.1:p.Asp157Tyr, XP_005263013.1:p.Asp157Tyr, XP_047306102.1:p.Asp392Tyr, XP_047306100.1:p.Asp392Tyr, XP_047306103.1:p.Asp469Tyr, XP_047306099.1:p.Asp392Tyr, XP_047306104.1:p.Asp157Tyr

                8.

                rs1476022490 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  4:155711134 (GRCh38)
                  4:156632286 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:155711133:C:T
                  Gene:
                  GUCY1A1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000004.12:g.155711134C>T, NC_000004.11:g.156632286C>T, NG_034128.1:g.49425C>T, NM_000856.6:c.969C>T, NM_000856.5:c.969C>T, NM_001130683.4:c.969C>T, NM_001130683.3:c.969C>T, NM_001130684.3:c.969C>T, NM_001130684.2:c.969C>T, NM_001130685.3:c.264C>T, NM_001130685.2:c.264C>T, NM_001130682.3:c.969C>T, NM_001130682.2:c.969C>T, NM_001130687.3:c.969C>T, NM_001130687.2:c.969C>T, NM_001256449.2:c.969C>T, NM_001256449.1:c.969C>T, NM_001379669.1:c.969C>T, NM_001379671.1:c.969C>T, NM_001379673.1:c.969C>T, NM_001379668.1:c.969C>T, NM_001379667.1:c.969C>T, NM_001379672.1:c.969C>T, NM_001379674.1:c.969C>T, NM_001379670.1:c.969C>T, NM_001379666.1:c.969C>T, NM_001379675.1:c.969C>T, NM_001379676.1:c.462C>T, XM_005262957.4:c.264C>T, XM_005262957.3:c.264C>T, XM_005262957.2:c.264C>T, XM_005262957.1:c.264C>T, XM_005262956.4:c.264C>T, XM_005262956.3:c.264C>T, XM_005262956.2:c.264C>T, XM_005262956.1:c.264C>T, XM_047450146.1:c.969C>T, XM_047450144.1:c.969C>T, XM_047450147.1:c.1200C>T, XM_047450143.1:c.969C>T, XM_047450148.1:c.264C>T, NM_001130686.1:c.969C>T

                  9.

                  rs1475835455 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    4:155713283 (GRCh38)
                    4:156634435 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:155713282:C:A,NC_000004.12:155713282:C:T
                    Gene:
                    GUCY1A1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000004.12:g.155713283C>A, NC_000004.12:g.155713283C>T, NC_000004.11:g.156634435C>A, NC_000004.11:g.156634435C>T, NG_034128.1:g.51574C>A, NG_034128.1:g.51574C>T, NM_000856.6:c.1272C>A, NM_000856.6:c.1272C>T, NM_000856.5:c.1272C>A, NM_000856.5:c.1272C>T, NM_001130683.4:c.1272C>A, NM_001130683.4:c.1272C>T, NM_001130683.3:c.1272C>A, NM_001130683.3:c.1272C>T, NM_001130684.3:c.1272C>A, NM_001130684.3:c.1272C>T, NM_001130684.2:c.1272C>A, NM_001130684.2:c.1272C>T, NM_001130685.3:c.567C>A, NM_001130685.3:c.567C>T, NM_001130685.2:c.567C>A, NM_001130685.2:c.567C>T, NM_001130682.3:c.1272C>A, NM_001130682.3:c.1272C>T, NM_001130682.2:c.1272C>A, NM_001130682.2:c.1272C>T, NM_001130687.3:c.1272C>A, NM_001130687.3:c.1272C>T, NM_001130687.2:c.1272C>A, NM_001130687.2:c.1272C>T, NM_001256449.2:c.1272C>A, NM_001256449.2:c.1272C>T, NM_001256449.1:c.1272C>A, NM_001256449.1:c.1272C>T, NM_001379669.1:c.1272C>A, NM_001379669.1:c.1272C>T, NM_001379671.1:c.1272C>A, NM_001379671.1:c.1272C>T, NM_001379673.1:c.1272C>A, NM_001379673.1:c.1272C>T, NM_001379668.1:c.1272C>A, NM_001379668.1:c.1272C>T, NM_001379667.1:c.1272C>A, NM_001379667.1:c.1272C>T, NM_001379672.1:c.1272C>A, NM_001379672.1:c.1272C>T, NM_001379674.1:c.1272C>A, NM_001379674.1:c.1272C>T, NM_001379670.1:c.1272C>A, NM_001379670.1:c.1272C>T, NM_001379666.1:c.1272C>A, NM_001379666.1:c.1272C>T, NM_001379675.1:c.1272C>A, NM_001379675.1:c.1272C>T, NM_001379676.1:c.765C>A, NM_001379676.1:c.765C>T, XM_005262957.4:c.567C>A, XM_005262957.4:c.567C>T, XM_005262957.3:c.567C>A, XM_005262957.3:c.567C>T, XM_005262957.2:c.567C>A, XM_005262957.2:c.567C>T, XM_005262957.1:c.567C>A, XM_005262957.1:c.567C>T, XM_005262956.4:c.567C>A, XM_005262956.4:c.567C>T, XM_005262956.3:c.567C>A, XM_005262956.3:c.567C>T, XM_005262956.2:c.567C>A, XM_005262956.2:c.567C>T, XM_005262956.1:c.567C>A, XM_005262956.1:c.567C>T, XM_047450146.1:c.1272C>A, XM_047450146.1:c.1272C>T, XM_047450144.1:c.1272C>A, XM_047450144.1:c.1272C>T, XM_047450147.1:c.1503C>A, XM_047450147.1:c.1503C>T, XM_047450143.1:c.1272C>A, XM_047450143.1:c.1272C>T, XM_047450148.1:c.567C>A, XM_047450148.1:c.567C>T

                    10.

                    rs1473757938 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      4:155697115 (GRCh38)
                      4:156618267 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:155697114:T:A
                      Gene:
                      GUCY1A1 (Varview)
                      Functional Consequence:
                      missense_variant,5_prime_UTR_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000004.12:g.155697115T>A, NC_000004.11:g.156618267T>A, NG_034128.1:g.35406T>A, NM_000856.6:c.248T>A, NM_000856.5:c.248T>A, NM_001130683.4:c.248T>A, NM_001130683.3:c.248T>A, NM_001130684.3:c.248T>A, NM_001130684.2:c.248T>A, NM_001130685.3:c.-458T>A, NM_001130685.2:c.-458T>A, NM_001130682.3:c.248T>A, NM_001130682.2:c.248T>A, NM_001130687.3:c.248T>A, NM_001130687.2:c.248T>A, NM_001256449.2:c.248T>A, NM_001256449.1:c.248T>A, NM_001379669.1:c.248T>A, NM_001379671.1:c.248T>A, NM_001379673.1:c.248T>A, NM_001379668.1:c.248T>A, NM_001379667.1:c.248T>A, NM_001379672.1:c.248T>A, NM_001379674.1:c.248T>A, NM_001379670.1:c.248T>A, NM_001379666.1:c.248T>A, NM_001379675.1:c.248T>A, NM_001379676.1:c.248T>A, XM_005262957.4:c.-458T>A, XM_005262957.3:c.-458T>A, XM_005262957.2:c.-458T>A, XM_005262957.1:c.-458T>A, XM_005262956.4:c.-458T>A, XM_005262956.3:c.-458T>A, XM_005262956.2:c.-458T>A, XM_005262956.1:c.-458T>A, XM_047450146.1:c.248T>A, XM_047450144.1:c.248T>A, XM_047450147.1:c.479T>A, XM_047450143.1:c.248T>A, XM_047450148.1:c.-458T>A, NM_001130686.1:c.248T>A, NP_000847.2:p.Phe83Tyr, NP_001124155.1:p.Phe83Tyr, NP_001124156.1:p.Phe83Tyr, NP_001124154.1:p.Phe83Tyr, NP_001124159.1:p.Phe83Tyr, NP_001243378.1:p.Phe83Tyr, NP_001366598.1:p.Phe83Tyr, NP_001366600.1:p.Phe83Tyr, NP_001366602.1:p.Phe83Tyr, NP_001366597.1:p.Phe83Tyr, NP_001366596.1:p.Phe83Tyr, NP_001366601.1:p.Phe83Tyr, NP_001366603.1:p.Phe83Tyr, NP_001366599.1:p.Phe83Tyr, NP_001366595.1:p.Phe83Tyr, NP_001366604.1:p.Phe83Tyr, NP_001366605.1:p.Phe83Tyr, XP_047306102.1:p.Phe83Tyr, XP_047306100.1:p.Phe83Tyr, XP_047306103.1:p.Phe160Tyr, XP_047306099.1:p.Phe83Tyr

                      11.

                      rs1471685855 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        4:155711197 (GRCh38)
                        4:156632349 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:155711196:G:A,NC_000004.12:155711196:G:T
                        Gene:
                        GUCY1A1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        T=0.000004/1 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000004.12:g.155711197G>A, NC_000004.12:g.155711197G>T, NC_000004.11:g.156632349G>A, NC_000004.11:g.156632349G>T, NG_034128.1:g.49488G>A, NG_034128.1:g.49488G>T, NM_000856.6:c.1032G>A, NM_000856.6:c.1032G>T, NM_000856.5:c.1032G>A, NM_000856.5:c.1032G>T, NM_001130683.4:c.1032G>A, NM_001130683.4:c.1032G>T, NM_001130683.3:c.1032G>A, NM_001130683.3:c.1032G>T, NM_001130684.3:c.1032G>A, NM_001130684.3:c.1032G>T, NM_001130684.2:c.1032G>A, NM_001130684.2:c.1032G>T, NM_001130685.3:c.327G>A, NM_001130685.3:c.327G>T, NM_001130685.2:c.327G>A, NM_001130685.2:c.327G>T, NM_001130682.3:c.1032G>A, NM_001130682.3:c.1032G>T, NM_001130682.2:c.1032G>A, NM_001130682.2:c.1032G>T, NM_001130687.3:c.1032G>A, NM_001130687.3:c.1032G>T, NM_001130687.2:c.1032G>A, NM_001130687.2:c.1032G>T, NM_001256449.2:c.1032G>A, NM_001256449.2:c.1032G>T, NM_001256449.1:c.1032G>A, NM_001256449.1:c.1032G>T, NM_001379669.1:c.1032G>A, NM_001379669.1:c.1032G>T, NM_001379671.1:c.1032G>A, NM_001379671.1:c.1032G>T, NM_001379673.1:c.1032G>A, NM_001379673.1:c.1032G>T, NM_001379668.1:c.1032G>A, NM_001379668.1:c.1032G>T, NM_001379667.1:c.1032G>A, NM_001379667.1:c.1032G>T, NM_001379672.1:c.1032G>A, NM_001379672.1:c.1032G>T, NM_001379674.1:c.1032G>A, NM_001379674.1:c.1032G>T, NM_001379670.1:c.1032G>A, NM_001379670.1:c.1032G>T, NM_001379666.1:c.1032G>A, NM_001379666.1:c.1032G>T, NM_001379675.1:c.1032G>A, NM_001379675.1:c.1032G>T, NM_001379676.1:c.525G>A, NM_001379676.1:c.525G>T, XM_005262957.4:c.327G>A, XM_005262957.4:c.327G>T, XM_005262957.3:c.327G>A, XM_005262957.3:c.327G>T, XM_005262957.2:c.327G>A, XM_005262957.2:c.327G>T, XM_005262957.1:c.327G>A, XM_005262957.1:c.327G>T, XM_005262956.4:c.327G>A, XM_005262956.4:c.327G>T, XM_005262956.3:c.327G>A, XM_005262956.3:c.327G>T, XM_005262956.2:c.327G>A, XM_005262956.2:c.327G>T, XM_005262956.1:c.327G>A, XM_005262956.1:c.327G>T, XM_047450146.1:c.1032G>A, XM_047450146.1:c.1032G>T, XM_047450144.1:c.1032G>A, XM_047450144.1:c.1032G>T, XM_047450147.1:c.1263G>A, XM_047450147.1:c.1263G>T, XM_047450143.1:c.1032G>A, XM_047450143.1:c.1032G>T, XM_047450148.1:c.327G>A, XM_047450148.1:c.327G>T, NM_001130686.1:c.1032G>A, NM_001130686.1:c.1032G>T, NP_000847.2:p.Met344Ile, NP_000847.2:p.Met344Ile, NP_001124155.1:p.Met344Ile, NP_001124155.1:p.Met344Ile, NP_001124156.1:p.Met344Ile, NP_001124156.1:p.Met344Ile, NP_001124157.1:p.Met109Ile, NP_001124157.1:p.Met109Ile, NP_001124154.1:p.Met344Ile, NP_001124154.1:p.Met344Ile, NP_001124159.1:p.Met344Ile, NP_001124159.1:p.Met344Ile, NP_001243378.1:p.Met344Ile, NP_001243378.1:p.Met344Ile, NP_001366598.1:p.Met344Ile, NP_001366598.1:p.Met344Ile, NP_001366600.1:p.Met344Ile, NP_001366600.1:p.Met344Ile, NP_001366602.1:p.Met344Ile, NP_001366602.1:p.Met344Ile, NP_001366597.1:p.Met344Ile, NP_001366597.1:p.Met344Ile, NP_001366596.1:p.Met344Ile, NP_001366596.1:p.Met344Ile, NP_001366601.1:p.Met344Ile, NP_001366601.1:p.Met344Ile, NP_001366603.1:p.Met344Ile, NP_001366603.1:p.Met344Ile, NP_001366599.1:p.Met344Ile, NP_001366599.1:p.Met344Ile, NP_001366595.1:p.Met344Ile, NP_001366595.1:p.Met344Ile, NP_001366604.1:p.Met344Ile, NP_001366604.1:p.Met344Ile, NP_001366605.1:p.Met175Ile, NP_001366605.1:p.Met175Ile, XP_005263014.1:p.Met109Ile, XP_005263014.1:p.Met109Ile, XP_005263013.1:p.Met109Ile, XP_005263013.1:p.Met109Ile, XP_047306102.1:p.Met344Ile, XP_047306102.1:p.Met344Ile, XP_047306100.1:p.Met344Ile, XP_047306100.1:p.Met344Ile, XP_047306103.1:p.Met421Ile, XP_047306103.1:p.Met421Ile, XP_047306099.1:p.Met344Ile, XP_047306099.1:p.Met344Ile, XP_047306104.1:p.Met109Ile, XP_047306104.1:p.Met109Ile

                        12.

                        rs1469450686 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          4:155722042 (GRCh38)
                          4:156643194 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:155722041:G:A
                          Gene:
                          GUCY1A1 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000004.12:g.155722042G>A, NC_000004.11:g.156643194G>A, NG_034128.1:g.60333G>A, NM_000856.6:c.1721G>A, NM_000856.5:c.1721G>A, NM_001130683.4:c.1721G>A, NM_001130683.3:c.1721G>A, NM_001130684.3:c.1721G>A, NM_001130684.2:c.1721G>A, NM_001130685.3:c.1016G>A, NM_001130685.2:c.1016G>A, NM_001130682.3:c.1721G>A, NM_001130682.2:c.1721G>A, NM_001130687.3:c.1721G>A, NM_001130687.2:c.1721G>A, NM_001256449.2:c.1721G>A, NM_001256449.1:c.1721G>A, NM_001379669.1:c.1721G>A, NM_001379671.1:c.1721G>A, NM_001379673.1:c.1721G>A, NM_001379668.1:c.1721G>A, NM_001379667.1:c.1721G>A, NM_001379672.1:c.1721G>A, NM_001379674.1:c.1721G>A, NM_001379670.1:c.1721G>A, NM_001379666.1:c.1721G>A, NM_001379676.1:c.1214G>A, XM_005262957.4:c.1016G>A, XM_005262957.3:c.1016G>A, XM_005262957.2:c.1016G>A, XM_005262957.1:c.1016G>A, XM_005262956.4:c.1016G>A, XM_005262956.3:c.1016G>A, XM_005262956.2:c.1016G>A, XM_005262956.1:c.1016G>A, XM_047450146.1:c.1721G>A, XM_047450144.1:c.1721G>A, XM_047450147.1:c.1952G>A, XM_047450143.1:c.1721G>A, XM_047450148.1:c.1016G>A, NP_000847.2:p.Arg574Gln, NP_001124155.1:p.Arg574Gln, NP_001124156.1:p.Arg574Gln, NP_001124157.1:p.Arg339Gln, NP_001124154.1:p.Arg574Gln, NP_001124159.1:p.Arg574Gln, NP_001243378.1:p.Arg574Gln, NP_001366598.1:p.Arg574Gln, NP_001366600.1:p.Arg574Gln, NP_001366602.1:p.Arg574Gln, NP_001366597.1:p.Arg574Gln, NP_001366596.1:p.Arg574Gln, NP_001366601.1:p.Arg574Gln, NP_001366603.1:p.Arg574Gln, NP_001366599.1:p.Arg574Gln, NP_001366595.1:p.Arg574Gln, NP_001366605.1:p.Arg405Gln, XP_005263014.1:p.Arg339Gln, XP_005263013.1:p.Arg339Gln, XP_047306102.1:p.Arg574Gln, XP_047306100.1:p.Arg574Gln, XP_047306103.1:p.Arg651Gln, XP_047306099.1:p.Arg574Gln, XP_047306104.1:p.Arg339Gln

                          13.

                          rs1469409510 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            4:155713178 (GRCh38)
                            4:156634330 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:155713177:A:G
                            Gene:
                            GUCY1A1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0.000094/2 (ALFA)
                            G=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000004.12:g.155713178A>G, NC_000004.11:g.156634330A>G, NG_034128.1:g.51469A>G, NM_000856.6:c.1167A>G, NM_000856.5:c.1167A>G, NM_001130683.4:c.1167A>G, NM_001130683.3:c.1167A>G, NM_001130684.3:c.1167A>G, NM_001130684.2:c.1167A>G, NM_001130685.3:c.462A>G, NM_001130685.2:c.462A>G, NM_001130682.3:c.1167A>G, NM_001130682.2:c.1167A>G, NM_001130687.3:c.1167A>G, NM_001130687.2:c.1167A>G, NM_001256449.2:c.1167A>G, NM_001256449.1:c.1167A>G, NM_001379669.1:c.1167A>G, NM_001379671.1:c.1167A>G, NM_001379673.1:c.1167A>G, NM_001379668.1:c.1167A>G, NM_001379667.1:c.1167A>G, NM_001379672.1:c.1167A>G, NM_001379674.1:c.1167A>G, NM_001379670.1:c.1167A>G, NM_001379666.1:c.1167A>G, NM_001379675.1:c.1167A>G, NM_001379676.1:c.660A>G, XM_005262957.4:c.462A>G, XM_005262957.3:c.462A>G, XM_005262957.2:c.462A>G, XM_005262957.1:c.462A>G, XM_005262956.4:c.462A>G, XM_005262956.3:c.462A>G, XM_005262956.2:c.462A>G, XM_005262956.1:c.462A>G, XM_047450146.1:c.1167A>G, XM_047450144.1:c.1167A>G, XM_047450147.1:c.1398A>G, XM_047450143.1:c.1167A>G, XM_047450148.1:c.462A>G

                            14.

                            rs1467228910 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              4:155730144 (GRCh38)
                              4:156651296 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:155730143:A:T
                              Gene:
                              GUCY1A1 (Varview), LOC105377506 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000008/2 (GnomAD_exomes)
                              HGVS:
                              NC_000004.12:g.155730144A>T, NC_000004.11:g.156651296A>T, NG_034128.1:g.68435A>T, NM_000856.6:c.1986A>T, NM_000856.5:c.1986A>T, NM_001130683.4:c.1986A>T, NM_001130683.3:c.1986A>T, NM_001130684.3:c.1986A>T, NM_001130684.2:c.1986A>T, NM_001130685.3:c.1281A>T, NM_001130685.2:c.1281A>T, NM_001130682.3:c.1986A>T, NM_001130682.2:c.1986A>T, NM_001256449.2:c.1986A>T, NM_001256449.1:c.1986A>T, NM_001379669.1:c.1986A>T, NM_001379671.1:c.1986A>T, NM_001379673.1:c.1986A>T, NM_001379668.1:c.1986A>T, NM_001379667.1:c.1986A>T, NM_001379672.1:c.1986A>T, NM_001379674.1:c.1986A>T, NM_001379670.1:c.1986A>T, NM_001379666.1:c.1986A>T, NM_001379675.1:c.*43A>T, NM_001379676.1:c.1479A>T, XM_005262957.4:c.1281A>T, XM_005262957.3:c.1281A>T, XM_005262957.2:c.1281A>T, XM_005262957.1:c.1281A>T, XM_005262956.4:c.1281A>T, XM_005262956.3:c.1281A>T, XM_005262956.2:c.1281A>T, XM_005262956.1:c.1281A>T, XM_047450146.1:c.1986A>T, XM_047450144.1:c.1986A>T, XM_047450147.1:c.2217A>T, XM_047450143.1:c.1986A>T, XM_047450148.1:c.1281A>T, NP_000847.2:p.Gln662His, NP_001124155.1:p.Gln662His, NP_001124156.1:p.Gln662His, NP_001124157.1:p.Gln427His, NP_001124154.1:p.Gln662His, NP_001243378.1:p.Gln662His, NP_001366598.1:p.Gln662His, NP_001366600.1:p.Gln662His, NP_001366602.1:p.Gln662His, NP_001366597.1:p.Gln662His, NP_001366596.1:p.Gln662His, NP_001366601.1:p.Gln662His, NP_001366603.1:p.Gln662His, NP_001366599.1:p.Gln662His, NP_001366595.1:p.Gln662His, NP_001366605.1:p.Gln493His, XP_005263014.1:p.Gln427His, XP_005263013.1:p.Gln427His, XP_047306102.1:p.Gln662His, XP_047306100.1:p.Gln662His, XP_047306103.1:p.Gln739His, XP_047306099.1:p.Gln662His, XP_047306104.1:p.Gln427His

                              15.

                              rs1466682982 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                4:155730087 (GRCh38)
                                4:156651239 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:155730086:A:G
                                Gene:
                                GUCY1A1 (Varview), LOC105377506 (Varview)
                                Functional Consequence:
                                synonymous_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                                HGVS:
                                NC_000004.12:g.155730087A>G, NC_000004.11:g.156651239A>G, NG_034128.1:g.68378A>G, NM_000856.6:c.1929A>G, NM_000856.5:c.1929A>G, NM_001130683.4:c.1929A>G, NM_001130683.3:c.1929A>G, NM_001130684.3:c.1929A>G, NM_001130684.2:c.1929A>G, NM_001130685.3:c.1224A>G, NM_001130685.2:c.1224A>G, NM_001130682.3:c.1929A>G, NM_001130682.2:c.1929A>G, NM_001256449.2:c.1929A>G, NM_001256449.1:c.1929A>G, NM_001379669.1:c.1929A>G, NM_001379671.1:c.1929A>G, NM_001379673.1:c.1929A>G, NM_001379668.1:c.1929A>G, NM_001379667.1:c.1929A>G, NM_001379672.1:c.1929A>G, NM_001379674.1:c.1929A>G, NM_001379670.1:c.1929A>G, NM_001379666.1:c.1929A>G, NM_001379675.1:c.1774A>G, NM_001379676.1:c.1422A>G, XM_005262957.4:c.1224A>G, XM_005262957.3:c.1224A>G, XM_005262957.2:c.1224A>G, XM_005262957.1:c.1224A>G, XM_005262956.4:c.1224A>G, XM_005262956.3:c.1224A>G, XM_005262956.2:c.1224A>G, XM_005262956.1:c.1224A>G, XM_047450146.1:c.1929A>G, XM_047450144.1:c.1929A>G, XM_047450147.1:c.2160A>G, XM_047450143.1:c.1929A>G, XM_047450148.1:c.1224A>G, NP_001366604.1:p.Thr592Ala

                                16.

                                rs1464652418 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  4:155710820 (GRCh38)
                                  4:156631972 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:155710819:A:G
                                  Gene:
                                  GUCY1A1 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,missense_variant,coding_sequence_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0.000111/1 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000004.12:g.155710820A>G, NC_000004.11:g.156631972A>G, NG_034128.1:g.49111A>G, NM_000856.6:c.655A>G, NM_000856.5:c.655A>G, NM_001130683.4:c.655A>G, NM_001130683.3:c.655A>G, NM_001130684.3:c.655A>G, NM_001130684.2:c.655A>G, NM_001130685.3:c.-51A>G, NM_001130685.2:c.-51A>G, NM_001130682.3:c.655A>G, NM_001130682.2:c.655A>G, NM_001130687.3:c.655A>G, NM_001130687.2:c.655A>G, NM_001256449.2:c.655A>G, NM_001256449.1:c.655A>G, NM_001379669.1:c.655A>G, NM_001379671.1:c.655A>G, NM_001379673.1:c.655A>G, NM_001379668.1:c.655A>G, NM_001379667.1:c.655A>G, NM_001379672.1:c.655A>G, NM_001379674.1:c.655A>G, NM_001379670.1:c.655A>G, NM_001379666.1:c.655A>G, NM_001379675.1:c.655A>G, XM_005262957.4:c.-51A>G, XM_005262957.3:c.-51A>G, XM_005262957.2:c.-51A>G, XM_005262957.1:c.-51A>G, XM_005262956.4:c.-51A>G, XM_005262956.3:c.-51A>G, XM_005262956.2:c.-51A>G, XM_005262956.1:c.-51A>G, XM_047450146.1:c.655A>G, XM_047450144.1:c.655A>G, XM_047450147.1:c.886A>G, XM_047450143.1:c.655A>G, XM_047450148.1:c.-51A>G, NM_001130686.1:c.655A>G, NP_000847.2:p.Ile219Val, NP_001124155.1:p.Ile219Val, NP_001124156.1:p.Ile219Val, NP_001124154.1:p.Ile219Val, NP_001124159.1:p.Ile219Val, NP_001243378.1:p.Ile219Val, NP_001366598.1:p.Ile219Val, NP_001366600.1:p.Ile219Val, NP_001366602.1:p.Ile219Val, NP_001366597.1:p.Ile219Val, NP_001366596.1:p.Ile219Val, NP_001366601.1:p.Ile219Val, NP_001366603.1:p.Ile219Val, NP_001366599.1:p.Ile219Val, NP_001366595.1:p.Ile219Val, NP_001366604.1:p.Ile219Val, XP_047306102.1:p.Ile219Val, XP_047306100.1:p.Ile219Val, XP_047306103.1:p.Ile296Val, XP_047306099.1:p.Ile219Val

                                  17.

                                  rs1463137959 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G,T [Show Flanks]
                                    Chromosome:
                                    4:155710709 (GRCh38)
                                    4:156631861 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:155710708:A:G,NC_000004.12:155710708:A:T
                                    Gene:
                                    GUCY1A1 (Varview)
                                    Functional Consequence:
                                    5_prime_UTR_variant,missense_variant,coding_sequence_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000004.12:g.155710709A>G, NC_000004.12:g.155710709A>T, NC_000004.11:g.156631861A>G, NC_000004.11:g.156631861A>T, NG_034128.1:g.49000A>G, NG_034128.1:g.49000A>T, NM_000856.6:c.544A>G, NM_000856.6:c.544A>T, NM_000856.5:c.544A>G, NM_000856.5:c.544A>T, NM_001130683.4:c.544A>G, NM_001130683.4:c.544A>T, NM_001130683.3:c.544A>G, NM_001130683.3:c.544A>T, NM_001130684.3:c.544A>G, NM_001130684.3:c.544A>T, NM_001130684.2:c.544A>G, NM_001130684.2:c.544A>T, NM_001130685.3:c.-162A>G, NM_001130685.3:c.-162A>T, NM_001130685.2:c.-162A>G, NM_001130685.2:c.-162A>T, NM_001130682.3:c.544A>G, NM_001130682.3:c.544A>T, NM_001130682.2:c.544A>G, NM_001130682.2:c.544A>T, NM_001130687.3:c.544A>G, NM_001130687.3:c.544A>T, NM_001130687.2:c.544A>G, NM_001130687.2:c.544A>T, NM_001256449.2:c.544A>G, NM_001256449.2:c.544A>T, NM_001256449.1:c.544A>G, NM_001256449.1:c.544A>T, NM_001379669.1:c.544A>G, NM_001379669.1:c.544A>T, NM_001379671.1:c.544A>G, NM_001379671.1:c.544A>T, NM_001379673.1:c.544A>G, NM_001379673.1:c.544A>T, NM_001379668.1:c.544A>G, NM_001379668.1:c.544A>T, NM_001379667.1:c.544A>G, NM_001379667.1:c.544A>T, NM_001379672.1:c.544A>G, NM_001379672.1:c.544A>T, NM_001379674.1:c.544A>G, NM_001379674.1:c.544A>T, NM_001379670.1:c.544A>G, NM_001379670.1:c.544A>T, NM_001379666.1:c.544A>G, NM_001379666.1:c.544A>T, NM_001379675.1:c.544A>G, NM_001379675.1:c.544A>T, XM_005262957.4:c.-162A>G, XM_005262957.4:c.-162A>T, XM_005262957.3:c.-162A>G, XM_005262957.3:c.-162A>T, XM_005262957.2:c.-162A>G, XM_005262957.2:c.-162A>T, XM_005262957.1:c.-162A>G, XM_005262957.1:c.-162A>T, XM_005262956.4:c.-162A>G, XM_005262956.4:c.-162A>T, XM_005262956.3:c.-162A>G, XM_005262956.3:c.-162A>T, XM_005262956.2:c.-162A>G, XM_005262956.2:c.-162A>T, XM_005262956.1:c.-162A>G, XM_005262956.1:c.-162A>T, XM_047450146.1:c.544A>G, XM_047450146.1:c.544A>T, XM_047450144.1:c.544A>G, XM_047450144.1:c.544A>T, XM_047450147.1:c.775A>G, XM_047450147.1:c.775A>T, XM_047450143.1:c.544A>G, XM_047450143.1:c.544A>T, XM_047450148.1:c.-162A>G, XM_047450148.1:c.-162A>T, NM_001130686.1:c.544A>G, NM_001130686.1:c.544A>T, NP_000847.2:p.Arg182Gly, NP_000847.2:p.Arg182Trp, NP_001124155.1:p.Arg182Gly, NP_001124155.1:p.Arg182Trp, NP_001124156.1:p.Arg182Gly, NP_001124156.1:p.Arg182Trp, NP_001124154.1:p.Arg182Gly, NP_001124154.1:p.Arg182Trp, NP_001124159.1:p.Arg182Gly, NP_001124159.1:p.Arg182Trp, NP_001243378.1:p.Arg182Gly, NP_001243378.1:p.Arg182Trp, NP_001366598.1:p.Arg182Gly, NP_001366598.1:p.Arg182Trp, NP_001366600.1:p.Arg182Gly, NP_001366600.1:p.Arg182Trp, NP_001366602.1:p.Arg182Gly, NP_001366602.1:p.Arg182Trp, NP_001366597.1:p.Arg182Gly, NP_001366597.1:p.Arg182Trp, NP_001366596.1:p.Arg182Gly, NP_001366596.1:p.Arg182Trp, NP_001366601.1:p.Arg182Gly, NP_001366601.1:p.Arg182Trp, NP_001366603.1:p.Arg182Gly, NP_001366603.1:p.Arg182Trp, NP_001366599.1:p.Arg182Gly, NP_001366599.1:p.Arg182Trp, NP_001366595.1:p.Arg182Gly, NP_001366595.1:p.Arg182Trp, NP_001366604.1:p.Arg182Gly, NP_001366604.1:p.Arg182Trp, XP_047306102.1:p.Arg182Gly, XP_047306102.1:p.Arg182Trp, XP_047306100.1:p.Arg182Gly, XP_047306100.1:p.Arg182Trp, XP_047306103.1:p.Arg259Gly, XP_047306103.1:p.Arg259Trp, XP_047306099.1:p.Arg182Gly, XP_047306099.1:p.Arg182Trp

                                    18.

                                    rs1462573007 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      4:155711247 (GRCh38)
                                      4:156632399 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:155711246:C:T
                                      Gene:
                                      GUCY1A1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      NC_000004.12:g.155711247C>T, NC_000004.11:g.156632399C>T, NG_034128.1:g.49538C>T, NM_000856.6:c.1082C>T, NM_000856.5:c.1082C>T, NM_001130683.4:c.1082C>T, NM_001130683.3:c.1082C>T, NM_001130684.3:c.1082C>T, NM_001130684.2:c.1082C>T, NM_001130685.3:c.377C>T, NM_001130685.2:c.377C>T, NM_001130682.3:c.1082C>T, NM_001130682.2:c.1082C>T, NM_001130687.3:c.1082C>T, NM_001130687.2:c.1082C>T, NM_001256449.2:c.1082C>T, NM_001256449.1:c.1082C>T, NM_001379669.1:c.1082C>T, NM_001379671.1:c.1082C>T, NM_001379673.1:c.1082C>T, NM_001379668.1:c.1082C>T, NM_001379667.1:c.1082C>T, NM_001379672.1:c.1082C>T, NM_001379674.1:c.1082C>T, NM_001379670.1:c.1082C>T, NM_001379666.1:c.1082C>T, NM_001379675.1:c.1082C>T, NM_001379676.1:c.575C>T, XM_005262957.4:c.377C>T, XM_005262957.3:c.377C>T, XM_005262957.2:c.377C>T, XM_005262957.1:c.377C>T, XM_005262956.4:c.377C>T, XM_005262956.3:c.377C>T, XM_005262956.2:c.377C>T, XM_005262956.1:c.377C>T, XM_047450146.1:c.1082C>T, XM_047450144.1:c.1082C>T, XM_047450147.1:c.1313C>T, XM_047450143.1:c.1082C>T, XM_047450148.1:c.377C>T, NM_001130686.1:c.1082C>T, NP_000847.2:p.Ser361Leu, NP_001124155.1:p.Ser361Leu, NP_001124156.1:p.Ser361Leu, NP_001124157.1:p.Ser126Leu, NP_001124154.1:p.Ser361Leu, NP_001124159.1:p.Ser361Leu, NP_001243378.1:p.Ser361Leu, NP_001366598.1:p.Ser361Leu, NP_001366600.1:p.Ser361Leu, NP_001366602.1:p.Ser361Leu, NP_001366597.1:p.Ser361Leu, NP_001366596.1:p.Ser361Leu, NP_001366601.1:p.Ser361Leu, NP_001366603.1:p.Ser361Leu, NP_001366599.1:p.Ser361Leu, NP_001366595.1:p.Ser361Leu, NP_001366604.1:p.Ser361Leu, NP_001366605.1:p.Ser192Leu, XP_005263014.1:p.Ser126Leu, XP_005263013.1:p.Ser126Leu, XP_047306102.1:p.Ser361Leu, XP_047306100.1:p.Ser361Leu, XP_047306103.1:p.Ser438Leu, XP_047306099.1:p.Ser361Leu, XP_047306104.1:p.Ser126Leu

                                      19.

                                      rs1461618975 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        4:155710802 (GRCh38)
                                        4:156631954 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:155710801:C:G
                                        Gene:
                                        GUCY1A1 (Varview)
                                        Functional Consequence:
                                        5_prime_UTR_variant,missense_variant,coding_sequence_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000447/2 (ALFA)
                                        G=0.000014/2 (GnomAD)
                                        G=0.000446/2 (Estonian)
                                        HGVS:
                                        NC_000004.12:g.155710802C>G, NC_000004.11:g.156631954C>G, NG_034128.1:g.49093C>G, NM_000856.6:c.637C>G, NM_000856.5:c.637C>G, NM_001130683.4:c.637C>G, NM_001130683.3:c.637C>G, NM_001130684.3:c.637C>G, NM_001130684.2:c.637C>G, NM_001130685.3:c.-69C>G, NM_001130685.2:c.-69C>G, NM_001130682.3:c.637C>G, NM_001130682.2:c.637C>G, NM_001130687.3:c.637C>G, NM_001130687.2:c.637C>G, NM_001256449.2:c.637C>G, NM_001256449.1:c.637C>G, NM_001379669.1:c.637C>G, NM_001379671.1:c.637C>G, NM_001379673.1:c.637C>G, NM_001379668.1:c.637C>G, NM_001379667.1:c.637C>G, NM_001379672.1:c.637C>G, NM_001379674.1:c.637C>G, NM_001379670.1:c.637C>G, NM_001379666.1:c.637C>G, NM_001379675.1:c.637C>G, XM_005262957.4:c.-69C>G, XM_005262957.3:c.-69C>G, XM_005262957.2:c.-69C>G, XM_005262957.1:c.-69C>G, XM_005262956.4:c.-69C>G, XM_005262956.3:c.-69C>G, XM_005262956.2:c.-69C>G, XM_005262956.1:c.-69C>G, XM_047450146.1:c.637C>G, XM_047450144.1:c.637C>G, XM_047450147.1:c.868C>G, XM_047450143.1:c.637C>G, XM_047450148.1:c.-69C>G, NM_001130686.1:c.637C>G, NP_000847.2:p.Leu213Val, NP_001124155.1:p.Leu213Val, NP_001124156.1:p.Leu213Val, NP_001124154.1:p.Leu213Val, NP_001124159.1:p.Leu213Val, NP_001243378.1:p.Leu213Val, NP_001366598.1:p.Leu213Val, NP_001366600.1:p.Leu213Val, NP_001366602.1:p.Leu213Val, NP_001366597.1:p.Leu213Val, NP_001366596.1:p.Leu213Val, NP_001366601.1:p.Leu213Val, NP_001366603.1:p.Leu213Val, NP_001366599.1:p.Leu213Val, NP_001366595.1:p.Leu213Val, NP_001366604.1:p.Leu213Val, XP_047306102.1:p.Leu213Val, XP_047306100.1:p.Leu213Val, XP_047306103.1:p.Leu290Val, XP_047306099.1:p.Leu213Val

                                        20.

                                        rs1459010270 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          4:155696930 (GRCh38)
                                          4:156618082 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:155696929:A:G
                                          Gene:
                                          GUCY1A1 (Varview)
                                          Functional Consequence:
                                          intron_variant,synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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