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Items: 1 to 20 of 1361

1.

rs1490587812 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    1:197477867 (GRCh38)
    1:197446997 (GRCh37)
    Canonical SPDI:
    NC_000001.11:197477866:G:A,NC_000001.11:197477866:G:T
    Gene:
    CRB1 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,missense_variant
    Clinical significance:
    likely-pathogenic,likely-benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000011/3 (TOPMED)
    HGVS:
    NC_000001.11:g.197477867G>A, NC_000001.11:g.197477867G>T, NC_000001.10:g.197446997G>A, NC_000001.10:g.197446997G>T, NG_008483.2:g.281406G>A, NG_008483.2:g.281406G>T, NM_201253.3:c.4209G>A, NM_201253.3:c.4209G>T, NM_201253.2:c.4209G>A, NM_201253.2:c.4209G>T, NR_047564.2:n.4612G>A, NR_047564.2:n.4612G>T, NR_047564.1:n.4660G>A, NR_047564.1:n.4660G>T, NM_001257965.2:c.4137G>A, NM_001257965.2:c.4137G>T, NM_001257965.1:c.4137G>A, NM_001257965.1:c.4137G>T, NR_047563.2:n.4162G>A, NR_047563.2:n.4162G>T, NR_047563.1:n.4210G>A, NR_047563.1:n.4210G>T, NM_001193640.2:c.3873G>A, NM_001193640.2:c.3873G>T, NM_001193640.1:c.3873G>A, NM_001193640.1:c.3873G>T, NM_001257966.2:c.2601G>A, NM_001257966.2:c.2601G>T, NM_001257966.1:c.2601G>A, NM_001257966.1:c.2601G>T, XM_011509369.3:c.2652G>A, XM_011509369.3:c.2652G>T, XM_011509369.2:c.2652G>A, XM_011509369.2:c.2652G>T, XM_011509369.1:c.2652G>A, XM_011509369.1:c.2652G>T, XM_017000852.2:c.4344G>A, XM_017000852.2:c.4344G>T, XM_017000852.1:c.4344G>A, XM_017000852.1:c.4344G>T, XM_011509367.2:c.*188G>A, XM_011509367.2:c.*188G>T, XM_011509367.1:c.*188G>A, XM_011509367.1:c.*188G>T, NM_012076.2:c.*320G>A, NM_012076.2:c.*320G>T, XM_047416572.1:c.4002G>A, XM_047416572.1:c.4002G>T, XM_047416573.1:c.4002G>A, XM_047416573.1:c.4002G>T, XM_047416574.1:c.*188G>A, XM_047416574.1:c.*188G>T, XM_047416575.1:c.3348G>A, XM_047416575.1:c.3348G>T, NP_957705.1:p.Glu1403Asp, NP_001244894.1:p.Glu1379Asp, NP_001180569.1:p.Glu1291Asp, NP_001244895.1:p.Glu867Asp, XP_011507671.1:p.Glu884Asp, XP_016856341.1:p.Glu1448Asp, XP_047272528.1:p.Glu1334Asp, XP_047272529.1:p.Glu1334Asp, XP_047272531.1:p.Glu1116Asp

    2.

    rs1489517097 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      1:197421452 (GRCh38)
      1:197390582 (GRCh37)
      Canonical SPDI:
      NC_000001.11:197421451:A:G
      Gene:
      CRB1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.197421452A>G, NC_000001.10:g.197390582A>G, NG_008483.2:g.224991A>G, NM_201253.3:c.1624A>G, NM_201253.2:c.1624A>G, NR_047564.2:n.1785A>G, NR_047564.1:n.1833A>G, NM_001257965.2:c.1417A>G, NM_001257965.1:c.1417A>G, NR_047563.2:n.1785A>G, NR_047563.1:n.1833A>G, NM_001193640.2:c.1288A>G, NM_001193640.1:c.1288A>G, NM_001257966.2:c.1624A>G, NM_001257966.1:c.1624A>G, XM_011509365.3:c.1624A>G, XM_011509365.2:c.1624A>G, XM_011509365.1:c.1624A>G, XM_011509369.3:c.67A>G, XM_011509369.2:c.67A>G, XM_011509369.1:c.67A>G, XM_017000852.2:c.1624A>G, XM_017000852.1:c.1624A>G, XM_011509367.2:c.1624A>G, XM_011509367.1:c.1624A>G, NM_012076.2:c.1624A>G, XM_047416572.1:c.1417A>G, XM_047416573.1:c.1417A>G, XM_047416574.1:c.1288A>G, XM_047416575.1:c.763A>G, NM_012076.1:c.1624A>G, NP_957705.1:p.Ile542Val, NP_001244894.1:p.Ile473Val, NP_001180569.1:p.Ile430Val, NP_001244895.1:p.Ile542Val, XP_011507667.1:p.Ile542Val, XP_011507671.1:p.Ile23Val, XP_016856341.1:p.Ile542Val, XP_011507669.1:p.Ile542Val, XP_047272528.1:p.Ile473Val, XP_047272529.1:p.Ile473Val, XP_047272530.1:p.Ile430Val, XP_047272531.1:p.Ile255Val

      3.

      rs1489510271 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:197434869 (GRCh38)
        1:197403999 (GRCh37)
        Canonical SPDI:
        NC_000001.11:197434868:C:T
        Gene:
        CRB1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        HGVS:

        4.

        rs1488538714 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          1:197421106 (GRCh38)
          1:197390236 (GRCh37)
          Canonical SPDI:
          NC_000001.11:197421105:T:G
          Gene:
          CRB1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000016/4 (GnomAD_exomes)
          G=0.000023/6 (TOPMED)
          HGVS:
          NC_000001.11:g.197421106T>G, NC_000001.10:g.197390236T>G, NG_008483.2:g.224645T>G, NM_201253.3:c.1278T>G, NM_201253.2:c.1278T>G, NR_047564.2:n.1439T>G, NR_047564.1:n.1487T>G, NM_001257965.2:c.1071T>G, NM_001257965.1:c.1071T>G, NR_047563.2:n.1439T>G, NR_047563.1:n.1487T>G, NM_001193640.2:c.942T>G, NM_001193640.1:c.942T>G, NM_001257966.2:c.1278T>G, NM_001257966.1:c.1278T>G, XM_011509365.3:c.1278T>G, XM_011509365.2:c.1278T>G, XM_011509365.1:c.1278T>G, XM_011509369.3:c.-280T>G, XM_011509369.2:c.-280T>G, XM_011509369.1:c.-280T>G, XM_017000852.2:c.1278T>G, XM_017000852.1:c.1278T>G, XM_011509367.2:c.1278T>G, XM_011509367.1:c.1278T>G, NM_012076.2:c.1278T>G, XM_047416572.1:c.1071T>G, XM_047416573.1:c.1071T>G, XM_047416574.1:c.942T>G, XM_047416575.1:c.417T>G, NM_012076.1:c.1278T>G, NP_957705.1:p.Asp426Glu, NP_001244894.1:p.Asp357Glu, NP_001180569.1:p.Asp314Glu, NP_001244895.1:p.Asp426Glu, XP_011507667.1:p.Asp426Glu, XP_016856341.1:p.Asp426Glu, XP_011507669.1:p.Asp426Glu, XP_047272528.1:p.Asp357Glu, XP_047272529.1:p.Asp357Glu, XP_047272530.1:p.Asp314Glu, XP_047272531.1:p.Asp139Glu

          5.

          rs1488355227 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            1:197356838 (GRCh38)
            1:197325968 (GRCh37)
            Canonical SPDI:
            NC_000001.11:197356837:A:G
            Gene:
            CRB1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
            Clinical significance:
            likely-benign
            Validated:
            by frequency
            MAF:
            G=0.000008/2 (GnomAD_exomes)
            HGVS:

            6.

            rs1487701966 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:197435609 (GRCh38)
              1:197404739 (GRCh37)
              Canonical SPDI:
              NC_000001.11:197435608:G:A
              Gene:
              CRB1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.197435609G>A, NC_000001.10:g.197404739G>A, NG_008483.2:g.239148G>A, NM_201253.3:c.3746G>A, NM_201253.2:c.3746G>A, NR_047564.2:n.3907G>A, NR_047564.1:n.3955G>A, NM_001257965.2:c.3674G>A, NM_001257965.1:c.3674G>A, NR_047563.2:n.3699G>A, NR_047563.1:n.3747G>A, NM_001193640.2:c.3410G>A, NM_001193640.1:c.3410G>A, NM_001257966.2:c.2138G>A, NM_001257966.1:c.2138G>A, XM_011509365.3:c.3746G>A, XM_011509365.2:c.3746G>A, XM_011509365.1:c.3746G>A, XM_011509369.3:c.2189G>A, XM_011509369.2:c.2189G>A, XM_011509369.1:c.2189G>A, XM_017000852.2:c.3881G>A, XM_017000852.1:c.3881G>A, XM_011509367.2:c.3746G>A, XM_011509367.1:c.3746G>A, NM_012076.2:c.3746G>A, XM_047416572.1:c.3539G>A, XM_047416573.1:c.3539G>A, XM_047416574.1:c.3410G>A, XM_047416575.1:c.2885G>A, NM_012076.1:c.3746G>A, NP_957705.1:p.Cys1249Tyr, NP_001244894.1:p.Cys1225Tyr, NP_001180569.1:p.Cys1137Tyr, NP_001244895.1:p.Cys713Tyr, XP_011507667.1:p.Cys1249Tyr, XP_011507671.1:p.Cys730Tyr, XP_016856341.1:p.Cys1294Tyr, XP_011507669.1:p.Cys1249Tyr, XP_047272528.1:p.Cys1180Tyr, XP_047272529.1:p.Cys1180Tyr, XP_047272530.1:p.Cys1137Tyr, XP_047272531.1:p.Cys962Tyr

              7.

              rs1485255522 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                1:197427836 (GRCh38)
                1:197396966 (GRCh37)
                Canonical SPDI:
                NC_000001.11:197427835:C:G
                Gene:
                CRB1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000001.11:g.197427836C>G, NC_000001.10:g.197396966C>G, NG_008483.2:g.231375C>G, NM_201253.3:c.2511C>G, NM_201253.2:c.2511C>G, NR_047564.2:n.2672C>G, NR_047564.1:n.2720C>G, NM_001257965.2:c.2304C>G, NM_001257965.1:c.2304C>G, NR_047563.2:n.2464C>G, NR_047563.1:n.2512C>G, NM_001193640.2:c.2175C>G, NM_001193640.1:c.2175C>G, XM_011509365.3:c.2511C>G, XM_011509365.2:c.2511C>G, XM_011509365.1:c.2511C>G, XM_011509369.3:c.954C>G, XM_011509369.2:c.954C>G, XM_011509369.1:c.954C>G, XM_017000852.2:c.2511C>G, XM_017000852.1:c.2511C>G, XM_011509367.2:c.2511C>G, XM_011509367.1:c.2511C>G, NM_012076.2:c.2511C>G, XM_047416572.1:c.2304C>G, XM_047416573.1:c.2304C>G, XM_047416574.1:c.2175C>G, XM_047416575.1:c.1650C>G, NM_012076.1:c.2511C>G, NP_957705.1:p.Asp837Glu, NP_001244894.1:p.Asp768Glu, NP_001180569.1:p.Asp725Glu, XP_011507667.1:p.Asp837Glu, XP_011507671.1:p.Asp318Glu, XP_016856341.1:p.Asp837Glu, XP_011507669.1:p.Asp837Glu, XP_047272528.1:p.Asp768Glu, XP_047272529.1:p.Asp768Glu, XP_047272530.1:p.Asp725Glu, XP_047272531.1:p.Asp550Glu

                8.

                rs1485137392 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:197421511 (GRCh38)
                  1:197390641 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:197421510:C:T
                  Gene:
                  CRB1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1485086776 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:197427600 (GRCh38)
                    1:197396730 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:197427599:A:G
                    Gene:
                    CRB1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                    Clinical significance:
                    uncertain-significance
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0.000047/1 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.197427600A>G, NC_000001.10:g.197396730A>G, NG_008483.2:g.231139A>G, NM_201253.3:c.2275A>G, NM_201253.2:c.2275A>G, NR_047564.2:n.2436A>G, NR_047564.1:n.2484A>G, NM_001257965.2:c.2068A>G, NM_001257965.1:c.2068A>G, NR_047563.2:n.2228A>G, NR_047563.1:n.2276A>G, NM_001193640.2:c.1939A>G, NM_001193640.1:c.1939A>G, XM_011509365.3:c.2275A>G, XM_011509365.2:c.2275A>G, XM_011509365.1:c.2275A>G, XM_011509369.3:c.718A>G, XM_011509369.2:c.718A>G, XM_011509369.1:c.718A>G, XM_017000852.2:c.2275A>G, XM_017000852.1:c.2275A>G, XM_011509367.2:c.2275A>G, XM_011509367.1:c.2275A>G, NM_012076.2:c.2275A>G, XM_047416572.1:c.2068A>G, XM_047416573.1:c.2068A>G, XM_047416574.1:c.1939A>G, XM_047416575.1:c.1414A>G, NM_012076.1:c.2275A>G, NP_957705.1:p.Thr759Ala, NP_001244894.1:p.Thr690Ala, NP_001180569.1:p.Thr647Ala, XP_011507667.1:p.Thr759Ala, XP_011507671.1:p.Thr240Ala, XP_016856341.1:p.Thr759Ala, XP_011507669.1:p.Thr759Ala, XP_047272528.1:p.Thr690Ala, XP_047272529.1:p.Thr690Ala, XP_047272530.1:p.Thr647Ala, XP_047272531.1:p.Thr472Ala

                    10.

                    rs1482970538 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      1:197435429 (GRCh38)
                      1:197404559 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:197435428:G:T
                      Gene:
                      CRB1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.197435429G>T, NC_000001.10:g.197404559G>T, NG_008483.2:g.238968G>T, NM_201253.3:c.3566G>T, NM_201253.2:c.3566G>T, NR_047564.2:n.3727G>T, NR_047564.1:n.3775G>T, NM_001257965.2:c.3494G>T, NM_001257965.1:c.3494G>T, NR_047563.2:n.3519G>T, NR_047563.1:n.3567G>T, NM_001193640.2:c.3230G>T, NM_001193640.1:c.3230G>T, XM_011509365.3:c.3566G>T, XM_011509365.2:c.3566G>T, XM_011509365.1:c.3566G>T, XM_011509369.3:c.2009G>T, XM_011509369.2:c.2009G>T, XM_011509369.1:c.2009G>T, XM_017000852.2:c.3701G>T, XM_017000852.1:c.3701G>T, XM_011509367.2:c.3566G>T, XM_011509367.1:c.3566G>T, NM_012076.2:c.3566G>T, XM_047416572.1:c.3359G>T, XM_047416573.1:c.3359G>T, XM_047416574.1:c.3230G>T, XM_047416575.1:c.2705G>T, NM_012076.1:c.3566G>T, NP_957705.1:p.Gly1189Val, NP_001244894.1:p.Gly1165Val, NP_001180569.1:p.Gly1077Val, XP_011507667.1:p.Gly1189Val, XP_011507671.1:p.Gly670Val, XP_016856341.1:p.Gly1234Val, XP_011507669.1:p.Gly1189Val, XP_047272528.1:p.Gly1120Val, XP_047272529.1:p.Gly1120Val, XP_047272530.1:p.Gly1077Val, XP_047272531.1:p.Gly902Val

                      11.

                      rs1482942636 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:197435012 (GRCh38)
                        1:197404142 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:197435011:G:A
                        Gene:
                        CRB1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                        Clinical significance:
                        uncertain-significance
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.197435012G>A, NC_000001.10:g.197404142G>A, NG_008483.2:g.238551G>A, NM_201253.3:c.3149G>A, NM_201253.2:c.3149G>A, NR_047564.2:n.3310G>A, NR_047564.1:n.3358G>A, NM_001257965.2:c.3077G>A, NM_001257965.1:c.3077G>A, NR_047563.2:n.3102G>A, NR_047563.1:n.3150G>A, NM_001193640.2:c.2813G>A, NM_001193640.1:c.2813G>A, XM_011509365.3:c.3149G>A, XM_011509365.2:c.3149G>A, XM_011509365.1:c.3149G>A, XM_011509369.3:c.1592G>A, XM_011509369.2:c.1592G>A, XM_011509369.1:c.1592G>A, XM_017000852.2:c.3284G>A, XM_017000852.1:c.3284G>A, XM_011509367.2:c.3149G>A, XM_011509367.1:c.3149G>A, NM_012076.2:c.3149G>A, XM_047416572.1:c.2942G>A, XM_047416573.1:c.2942G>A, XM_047416574.1:c.2813G>A, XM_047416575.1:c.2288G>A, NM_012076.1:c.3149G>A, NP_957705.1:p.Arg1050Lys, NP_001244894.1:p.Arg1026Lys, NP_001180569.1:p.Arg938Lys, XP_011507667.1:p.Arg1050Lys, XP_011507671.1:p.Arg531Lys, XP_016856341.1:p.Arg1095Lys, XP_011507669.1:p.Arg1050Lys, XP_047272528.1:p.Arg981Lys, XP_047272529.1:p.Arg981Lys, XP_047272530.1:p.Arg938Lys, XP_047272531.1:p.Arg763Lys

                        12.

                        rs1482897790 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:197421026 (GRCh38)
                          1:197390156 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:197421025:G:A
                          Gene:
                          CRB1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.197421026G>A, NC_000001.10:g.197390156G>A, NG_008483.2:g.224565G>A, NM_201253.3:c.1198G>A, NM_201253.2:c.1198G>A, NR_047564.2:n.1359G>A, NR_047564.1:n.1407G>A, NM_001257965.2:c.991G>A, NM_001257965.1:c.991G>A, NR_047563.2:n.1359G>A, NR_047563.1:n.1407G>A, NM_001193640.2:c.862G>A, NM_001193640.1:c.862G>A, NM_001257966.2:c.1198G>A, NM_001257966.1:c.1198G>A, XM_011509365.3:c.1198G>A, XM_011509365.2:c.1198G>A, XM_011509365.1:c.1198G>A, XM_011509369.3:c.-360G>A, XM_011509369.2:c.-360G>A, XM_011509369.1:c.-360G>A, XM_017000852.2:c.1198G>A, XM_017000852.1:c.1198G>A, XM_011509367.2:c.1198G>A, XM_011509367.1:c.1198G>A, NM_012076.2:c.1198G>A, XM_047416572.1:c.991G>A, XM_047416573.1:c.991G>A, XM_047416574.1:c.862G>A, XM_047416575.1:c.337G>A, NM_012076.1:c.1198G>A, NP_957705.1:p.Glu400Lys, NP_001244894.1:p.Glu331Lys, NP_001180569.1:p.Glu288Lys, NP_001244895.1:p.Glu400Lys, XP_011507667.1:p.Glu400Lys, XP_016856341.1:p.Glu400Lys, XP_011507669.1:p.Glu400Lys, XP_047272528.1:p.Glu331Lys, XP_047272529.1:p.Glu331Lys, XP_047272530.1:p.Glu288Lys, XP_047272531.1:p.Glu113Lys

                          13.

                          rs1481850123 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            CT>- [Show Flanks]
                            Chromosome:
                            1:197435304 (GRCh38)
                            1:197404434 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:197435303:CT:
                            Gene:
                            CRB1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant,coding_sequence_variant,frameshift_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            -=0./0 (ALFA)
                            -=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000001.11:g.197435304_197435305del, NC_000001.10:g.197404434_197404435del, NG_008483.2:g.238843_238844del, NM_201253.3:c.3441_3442del, NM_201253.2:c.3441_3442del, NR_047564.2:n.3602_3603del, NR_047564.1:n.3650_3651del, NM_001257965.2:c.3369_3370del, NM_001257965.1:c.3369_3370del, NR_047563.2:n.3394_3395del, NR_047563.1:n.3442_3443del, NM_001193640.2:c.3105_3106del, NM_001193640.1:c.3105_3106del, XM_011509365.3:c.3441_3442del, XM_011509365.2:c.3441_3442del, XM_011509365.1:c.3441_3442del, XM_011509369.3:c.1884_1885del, XM_011509369.2:c.1884_1885del, XM_011509369.1:c.1884_1885del, XM_017000852.2:c.3576_3577del, XM_017000852.1:c.3576_3577del, XM_011509367.2:c.3441_3442del, XM_011509367.1:c.3441_3442del, NM_012076.2:c.3441_3442del, XM_047416572.1:c.3234_3235del, XM_047416573.1:c.3234_3235del, XM_047416574.1:c.3105_3106del, XM_047416575.1:c.2580_2581del, NM_012076.1:c.3441_3442del, NP_957705.1:p.Cys1148fs, NP_001244894.1:p.Cys1124fs, NP_001180569.1:p.Cys1036fs, XP_011507667.1:p.Cys1148fs, XP_011507671.1:p.Cys629fs, XP_016856341.1:p.Cys1193fs, XP_011507669.1:p.Cys1148fs, XP_047272528.1:p.Cys1079fs, XP_047272529.1:p.Cys1079fs, XP_047272530.1:p.Cys1036fs, XP_047272531.1:p.Cys861fs

                            14.

                            rs1481310279 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G,T [Show Flanks]
                              Chromosome:
                              1:197427664 (GRCh38)
                              1:197396794 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:197427663:C:A,NC_000001.11:197427663:C:G,NC_000001.11:197427663:C:T
                              Gene:
                              CRB1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.197427664C>A, NC_000001.11:g.197427664C>G, NC_000001.11:g.197427664C>T, NC_000001.10:g.197396794C>A, NC_000001.10:g.197396794C>G, NC_000001.10:g.197396794C>T, NG_008483.2:g.231203C>A, NG_008483.2:g.231203C>G, NG_008483.2:g.231203C>T, NM_201253.3:c.2339C>A, NM_201253.3:c.2339C>G, NM_201253.3:c.2339C>T, NM_201253.2:c.2339C>A, NM_201253.2:c.2339C>G, NM_201253.2:c.2339C>T, NR_047564.2:n.2500C>A, NR_047564.2:n.2500C>G, NR_047564.2:n.2500C>T, NR_047564.1:n.2548C>A, NR_047564.1:n.2548C>G, NR_047564.1:n.2548C>T, NM_001257965.2:c.2132C>A, NM_001257965.2:c.2132C>G, NM_001257965.2:c.2132C>T, NM_001257965.1:c.2132C>A, NM_001257965.1:c.2132C>G, NM_001257965.1:c.2132C>T, NR_047563.2:n.2292C>A, NR_047563.2:n.2292C>G, NR_047563.2:n.2292C>T, NR_047563.1:n.2340C>A, NR_047563.1:n.2340C>G, NR_047563.1:n.2340C>T, NM_001193640.2:c.2003C>A, NM_001193640.2:c.2003C>G, NM_001193640.2:c.2003C>T, NM_001193640.1:c.2003C>A, NM_001193640.1:c.2003C>G, NM_001193640.1:c.2003C>T, XM_011509365.3:c.2339C>A, XM_011509365.3:c.2339C>G, XM_011509365.3:c.2339C>T, XM_011509365.2:c.2339C>A, XM_011509365.2:c.2339C>G, XM_011509365.2:c.2339C>T, XM_011509365.1:c.2339C>A, XM_011509365.1:c.2339C>G, XM_011509365.1:c.2339C>T, XM_011509369.3:c.782C>A, XM_011509369.3:c.782C>G, XM_011509369.3:c.782C>T, XM_011509369.2:c.782C>A, XM_011509369.2:c.782C>G, XM_011509369.2:c.782C>T, XM_011509369.1:c.782C>A, XM_011509369.1:c.782C>G, XM_011509369.1:c.782C>T, XM_017000852.2:c.2339C>A, XM_017000852.2:c.2339C>G, XM_017000852.2:c.2339C>T, XM_017000852.1:c.2339C>A, XM_017000852.1:c.2339C>G, XM_017000852.1:c.2339C>T, XM_011509367.2:c.2339C>A, XM_011509367.2:c.2339C>G, XM_011509367.2:c.2339C>T, XM_011509367.1:c.2339C>A, XM_011509367.1:c.2339C>G, XM_011509367.1:c.2339C>T, NM_012076.2:c.2339C>A, NM_012076.2:c.2339C>G, NM_012076.2:c.2339C>T, XM_047416572.1:c.2132C>A, XM_047416572.1:c.2132C>G, XM_047416572.1:c.2132C>T, XM_047416573.1:c.2132C>A, XM_047416573.1:c.2132C>G, XM_047416573.1:c.2132C>T, XM_047416574.1:c.2003C>A, XM_047416574.1:c.2003C>G, XM_047416574.1:c.2003C>T, XM_047416575.1:c.1478C>A, XM_047416575.1:c.1478C>G, XM_047416575.1:c.1478C>T, NM_012076.1:c.2339C>A, NM_012076.1:c.2339C>G, NM_012076.1:c.2339C>T, NP_957705.1:p.Pro780His, NP_957705.1:p.Pro780Arg, NP_957705.1:p.Pro780Leu, NP_001244894.1:p.Pro711His, NP_001244894.1:p.Pro711Arg, NP_001244894.1:p.Pro711Leu, NP_001180569.1:p.Pro668His, NP_001180569.1:p.Pro668Arg, NP_001180569.1:p.Pro668Leu, XP_011507667.1:p.Pro780His, XP_011507667.1:p.Pro780Arg, XP_011507667.1:p.Pro780Leu, XP_011507671.1:p.Pro261His, XP_011507671.1:p.Pro261Arg, XP_011507671.1:p.Pro261Leu, XP_016856341.1:p.Pro780His, XP_016856341.1:p.Pro780Arg, XP_016856341.1:p.Pro780Leu, XP_011507669.1:p.Pro780His, XP_011507669.1:p.Pro780Arg, XP_011507669.1:p.Pro780Leu, XP_047272528.1:p.Pro711His, XP_047272528.1:p.Pro711Arg, XP_047272528.1:p.Pro711Leu, XP_047272529.1:p.Pro711His, XP_047272529.1:p.Pro711Arg, XP_047272529.1:p.Pro711Leu, XP_047272530.1:p.Pro668His, XP_047272530.1:p.Pro668Arg, XP_047272530.1:p.Pro668Leu, XP_047272531.1:p.Pro493His, XP_047272531.1:p.Pro493Arg, XP_047272531.1:p.Pro493Leu

                              15.

                              rs1479225334 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:197435519 (GRCh38)
                                1:197404649 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:197435518:A:G
                                Gene:
                                CRB1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.197435519A>G, NC_000001.10:g.197404649A>G, NG_008483.2:g.239058A>G, NM_201253.3:c.3656A>G, NM_201253.2:c.3656A>G, NR_047564.2:n.3817A>G, NR_047564.1:n.3865A>G, NM_001257965.2:c.3584A>G, NM_001257965.1:c.3584A>G, NR_047563.2:n.3609A>G, NR_047563.1:n.3657A>G, NM_001193640.2:c.3320A>G, NM_001193640.1:c.3320A>G, XM_011509365.3:c.3656A>G, XM_011509365.2:c.3656A>G, XM_011509365.1:c.3656A>G, XM_011509369.3:c.2099A>G, XM_011509369.2:c.2099A>G, XM_011509369.1:c.2099A>G, XM_017000852.2:c.3791A>G, XM_017000852.1:c.3791A>G, XM_011509367.2:c.3656A>G, XM_011509367.1:c.3656A>G, NM_012076.2:c.3656A>G, XM_047416572.1:c.3449A>G, XM_047416573.1:c.3449A>G, XM_047416574.1:c.3320A>G, XM_047416575.1:c.2795A>G, NM_012076.1:c.3656A>G, NP_957705.1:p.Gln1219Arg, NP_001244894.1:p.Gln1195Arg, NP_001180569.1:p.Gln1107Arg, XP_011507667.1:p.Gln1219Arg, XP_011507671.1:p.Gln700Arg, XP_016856341.1:p.Gln1264Arg, XP_011507669.1:p.Gln1219Arg, XP_047272528.1:p.Gln1150Arg, XP_047272529.1:p.Gln1150Arg, XP_047272530.1:p.Gln1107Arg, XP_047272531.1:p.Gln932Arg

                                16.

                                rs1478731919 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  1:197435337 (GRCh38)
                                  1:197404467 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:197435336:T:C
                                  Gene:
                                  CRB1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1478713622 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    1:197328771 (GRCh38)
                                    1:197297901 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:197328770:T:C
                                    Gene:
                                    CRB1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    C=0.000014/2 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1478530205 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:197421054 (GRCh38)
                                      1:197390184 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:197421053:G:A
                                      Gene:
                                      CRB1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000035/1 (TOMMO)
                                      HGVS:
                                      NC_000001.11:g.197421054G>A, NC_000001.10:g.197390184G>A, NG_008483.2:g.224593G>A, NM_201253.3:c.1226G>A, NM_201253.2:c.1226G>A, NR_047564.2:n.1387G>A, NR_047564.1:n.1435G>A, NM_001257965.2:c.1019G>A, NM_001257965.1:c.1019G>A, NR_047563.2:n.1387G>A, NR_047563.1:n.1435G>A, NM_001193640.2:c.890G>A, NM_001193640.1:c.890G>A, NM_001257966.2:c.1226G>A, NM_001257966.1:c.1226G>A, XM_011509365.3:c.1226G>A, XM_011509365.2:c.1226G>A, XM_011509365.1:c.1226G>A, XM_011509369.3:c.-332G>A, XM_011509369.2:c.-332G>A, XM_011509369.1:c.-332G>A, XM_017000852.2:c.1226G>A, XM_017000852.1:c.1226G>A, XM_011509367.2:c.1226G>A, XM_011509367.1:c.1226G>A, NM_012076.2:c.1226G>A, XM_047416572.1:c.1019G>A, XM_047416573.1:c.1019G>A, XM_047416574.1:c.890G>A, XM_047416575.1:c.365G>A, NM_012076.1:c.1226G>A, NP_957705.1:p.Gly409Asp, NP_001244894.1:p.Gly340Asp, NP_001180569.1:p.Gly297Asp, NP_001244895.1:p.Gly409Asp, XP_011507667.1:p.Gly409Asp, XP_016856341.1:p.Gly409Asp, XP_011507669.1:p.Gly409Asp, XP_047272528.1:p.Gly340Asp, XP_047272529.1:p.Gly340Asp, XP_047272530.1:p.Gly297Asp, XP_047272531.1:p.Gly122Asp

                                      19.

                                      rs1477246106 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        1:197434863 (GRCh38)
                                        1:197403993 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:197434862:T:C
                                        Gene:
                                        CRB1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                                        Clinical significance:
                                        likely-benign
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000008/2 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1477127385 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          1:197421191 (GRCh38)
                                          1:197390321 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:197421190:A:G
                                          Gene:
                                          CRB1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000001.11:g.197421191A>G, NC_000001.10:g.197390321A>G, NG_008483.2:g.224730A>G, NM_201253.3:c.1363A>G, NM_201253.2:c.1363A>G, NR_047564.2:n.1524A>G, NR_047564.1:n.1572A>G, NM_001257965.2:c.1156A>G, NM_001257965.1:c.1156A>G, NR_047563.2:n.1524A>G, NR_047563.1:n.1572A>G, NM_001193640.2:c.1027A>G, NM_001193640.1:c.1027A>G, NM_001257966.2:c.1363A>G, NM_001257966.1:c.1363A>G, XM_011509365.3:c.1363A>G, XM_011509365.2:c.1363A>G, XM_011509365.1:c.1363A>G, XM_011509369.3:c.-195A>G, XM_011509369.2:c.-195A>G, XM_011509369.1:c.-195A>G, XM_017000852.2:c.1363A>G, XM_017000852.1:c.1363A>G, XM_011509367.2:c.1363A>G, XM_011509367.1:c.1363A>G, NM_012076.2:c.1363A>G, XM_047416572.1:c.1156A>G, XM_047416573.1:c.1156A>G, XM_047416574.1:c.1027A>G, XM_047416575.1:c.502A>G, NM_012076.1:c.1363A>G, NP_957705.1:p.Thr455Ala, NP_001244894.1:p.Thr386Ala, NP_001180569.1:p.Thr343Ala, NP_001244895.1:p.Thr455Ala, XP_011507667.1:p.Thr455Ala, XP_016856341.1:p.Thr455Ala, XP_011507669.1:p.Thr455Ala, XP_047272528.1:p.Thr386Ala, XP_047272529.1:p.Thr386Ala, XP_047272530.1:p.Thr343Ala, XP_047272531.1:p.Thr168Ala

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