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Items: 1 to 20 of 830

1.

rs1490713136 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    7:33264353 (GRCh38)
    7:33303965 (GRCh37)
    Canonical SPDI:
    NC_000007.14:33264352:T:C
    Gene:
    BBS9 (Varview)
    Functional Consequence:
    synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
    Validated:
    by cluster
    HGVS:
    NC_000007.14:g.33264353T>C, NC_000007.13:g.33303965T>C, NG_009306.2:g.140110T>C, NM_014451.4:c.681T>C, NM_014451.3:c.681T>C, NM_001348041.4:c.681T>C, NM_001348041.3:c.681T>C, NM_001348041.2:c.681T>C, NM_001348041.1:c.681T>C, NR_145413.3:n.1170T>C, NR_145413.2:n.1194T>C, NR_145413.1:n.1449T>C, NM_001348038.3:c.408T>C, NM_001348038.2:c.408T>C, NM_001348038.1:c.408T>C, NM_198428.3:c.681T>C, NM_198428.2:c.681T>C, NM_001348043.3:c.681T>C, NM_001348043.2:c.681T>C, NM_001348043.1:c.681T>C, NM_001348039.3:c.408T>C, NM_001348039.2:c.408T>C, NM_001348039.1:c.408T>C, NM_001348042.3:c.546T>C, NM_001348042.2:c.546T>C, NM_001348042.1:c.546T>C, NM_001348040.3:c.681T>C, NM_001348040.2:c.681T>C, NM_001348040.1:c.681T>C, NM_001348045.3:c.315T>C, NM_001348045.2:c.315T>C, NM_001348045.1:c.315T>C, NM_001348037.3:c.315T>C, NM_001348037.2:c.315T>C, NM_001348037.1:c.315T>C, NM_001348046.3:c.315T>C, NM_001348046.2:c.315T>C, NM_001348046.1:c.315T>C, NM_001348044.3:c.315T>C, NM_001348044.2:c.315T>C, NM_001348044.1:c.315T>C, NM_001033605.2:c.681T>C, NM_001033605.1:c.681T>C, NM_001033604.2:c.681T>C, NM_001033604.1:c.681T>C, NR_145412.1:n.960T>C, NR_145411.1:n.960T>C, NM_001348036.1:c.681T>C, NM_001362679.1:c.681T>C, XM_011515270.4:c.681T>C, XM_011515270.3:c.681T>C, XM_011515270.2:c.681T>C, XM_011515270.1:c.681T>C, XM_005249701.4:c.681T>C, XM_005249701.3:c.681T>C, XM_005249701.2:c.681T>C, XM_005249701.1:c.681T>C, XM_011515266.4:c.681T>C, XM_011515266.3:c.681T>C, XM_011515266.2:c.681T>C, XM_011515266.1:c.681T>C, XM_011515267.4:c.681T>C, XM_011515267.3:c.681T>C, XM_011515267.2:c.681T>C, XM_011515267.1:c.681T>C, XM_011515265.3:c.681T>C, XM_011515265.2:c.681T>C, XM_011515265.1:c.681T>C, XM_011515269.3:c.408T>C, XM_011515269.2:c.408T>C, XM_011515269.1:c.408T>C, XM_017011994.3:c.681T>C, XM_017011994.2:c.681T>C, XM_017011994.1:c.681T>C, XR_001744634.3:n.1194T>C, XR_001744634.2:n.1184T>C, XR_001744634.1:n.1202T>C, XM_017011990.2:c.681T>C, XM_017011990.1:c.681T>C, XM_047420202.1:c.681T>C, XM_047420201.1:c.681T>C, XM_047420203.1:c.681T>C, XM_047420204.1:c.681T>C

    2.

    rs1490049568 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      7:33604934 (GRCh38)
      7:33644546 (GRCh37)
      Canonical SPDI:
      NC_000007.14:33604933:T:G
      Gene:
      BBS9 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
      Clinical significance:
      uncertain-significance
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000004/1 (TOPMED)
      HGVS:
      NC_000007.14:g.33604934T>G, NC_000007.13:g.33644546T>G, NG_009306.2:g.480691T>G, NM_014451.4:c.2471T>G, NM_014451.3:c.2471T>G, NM_001348041.4:c.2591T>G, NM_001348041.3:c.2591T>G, NM_001348041.2:c.2591T>G, NM_001348041.1:c.2591T>G, NR_145413.3:n.3224T>G, NR_145413.2:n.3248T>G, NR_145413.1:n.3503T>G, NM_001348038.3:c.2318T>G, NM_001348038.2:c.2318T>G, NM_001348038.1:c.2318T>G, NM_198428.3:c.2591T>G, NM_198428.2:c.2591T>G, NM_001348043.3:c.2591T>G, NM_001348043.2:c.2591T>G, NM_001348043.1:c.2591T>G, NM_001348039.3:c.2213T>G, NM_001348039.2:c.2213T>G, NM_001348039.1:c.2213T>G, NM_001348042.3:c.2456T>G, NM_001348042.2:c.2456T>G, NM_001348042.1:c.2456T>G, NM_001348040.3:c.2471T>G, NM_001348040.2:c.2471T>G, NM_001348040.1:c.2471T>G, NM_001348045.3:c.2225T>G, NM_001348045.2:c.2225T>G, NM_001348045.1:c.2225T>G, NM_001348037.3:c.2042T>G, NM_001348037.2:c.2042T>G, NM_001348037.1:c.2042T>G, NM_001348046.3:c.2225T>G, NM_001348046.2:c.2225T>G, NM_001348046.1:c.2225T>G, NM_001348044.3:c.2120T>G, NM_001348044.2:c.2120T>G, NM_001348044.1:c.2120T>G, NM_001033605.2:c.2576T>G, NM_001033605.1:c.2576T>G, NM_001033604.2:c.2486T>G, NM_001033604.1:c.2486T>G, NR_145412.1:n.3062T>G, NR_145411.1:n.2949T>G, NM_001348036.1:c.2591T>G, XM_011515266.4:c.2576T>G, XM_011515266.3:c.2576T>G, XM_011515266.2:c.2576T>G, XM_011515266.1:c.2576T>G, XM_011515267.4:c.2486T>G, XM_011515267.3:c.2486T>G, XM_011515267.2:c.2486T>G, XM_011515267.1:c.2486T>G, XM_011515265.3:c.2591T>G, XM_011515265.2:c.2591T>G, XM_011515265.1:c.2591T>G, XM_011515269.3:c.2318T>G, XM_011515269.2:c.2318T>G, XM_011515269.1:c.2318T>G, XM_017011990.2:c.2576T>G, XM_017011990.1:c.2576T>G, XM_047420202.1:c.2576T>G, XM_047420201.1:c.2576T>G, NP_055266.2:p.Phe824Cys, NP_001334970.1:p.Phe864Cys, NP_001334967.1:p.Phe773Cys, NP_940820.1:p.Phe864Cys, NP_001334972.1:p.Phe864Cys, NP_001334968.1:p.Phe738Cys, NP_001334971.1:p.Phe819Cys, NP_001334969.1:p.Phe824Cys, NP_001334974.1:p.Phe742Cys, NP_001334966.1:p.Phe681Cys, NP_001334975.1:p.Phe742Cys, NP_001334973.1:p.Phe707Cys, NP_001028777.1:p.Phe859Cys, NP_001028776.1:p.Phe829Cys, NP_001334965.1:p.Phe864Cys, XP_011513568.1:p.Phe859Cys, XP_011513569.1:p.Phe829Cys, XP_011513567.1:p.Phe864Cys, XP_011513571.1:p.Phe773Cys, XP_016867479.1:p.Phe859Cys, XP_047276158.1:p.Phe859Cys, XP_047276157.1:p.Phe859Cys

      3.

      rs1489268490 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        7:33505587 (GRCh38)
        7:33545199 (GRCh37)
        Canonical SPDI:
        NC_000007.14:33505586:A:T
        Gene:
        BBS9 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000007.14:g.33505587A>T, NC_000007.13:g.33545199A>T, NG_009306.2:g.381344A>T, NM_014451.4:c.2120A>T, NM_014451.3:c.2120A>T, NM_001348041.4:c.2240A>T, NM_001348041.3:c.2240A>T, NM_001348041.2:c.2240A>T, NM_001348041.1:c.2240A>T, NR_145413.3:n.2873A>T, NR_145413.2:n.2897A>T, NR_145413.1:n.3152A>T, NM_001348038.3:c.1967A>T, NM_001348038.2:c.1967A>T, NM_001348038.1:c.1967A>T, NM_198428.3:c.2240A>T, NM_198428.2:c.2240A>T, NM_001348043.3:c.2240A>T, NM_001348043.2:c.2240A>T, NM_001348043.1:c.2240A>T, NM_001348039.3:c.1862A>T, NM_001348039.2:c.1862A>T, NM_001348039.1:c.1862A>T, NM_001348042.3:c.2105A>T, NM_001348042.2:c.2105A>T, NM_001348042.1:c.2105A>T, NM_001348040.3:c.2120A>T, NM_001348040.2:c.2120A>T, NM_001348040.1:c.2120A>T, NM_001348045.3:c.1874A>T, NM_001348045.2:c.1874A>T, NM_001348045.1:c.1874A>T, NM_001348046.3:c.1874A>T, NM_001348046.2:c.1874A>T, NM_001348046.1:c.1874A>T, NM_001348044.3:c.1769A>T, NM_001348044.2:c.1769A>T, NM_001348044.1:c.1769A>T, NM_001033605.2:c.2225A>T, NM_001033605.1:c.2225A>T, NM_001033604.2:c.2135A>T, NM_001033604.1:c.2135A>T, NR_145412.1:n.2711A>T, NR_145411.1:n.2519A>T, NM_001348036.1:c.2240A>T, NM_001362679.1:c.2240A>T, XM_011515266.4:c.2225A>T, XM_011515266.3:c.2225A>T, XM_011515266.2:c.2225A>T, XM_011515266.1:c.2225A>T, XM_011515267.4:c.2135A>T, XM_011515267.3:c.2135A>T, XM_011515267.2:c.2135A>T, XM_011515267.1:c.2135A>T, XM_011515265.3:c.2240A>T, XM_011515265.2:c.2240A>T, XM_011515265.1:c.2240A>T, XM_011515269.3:c.1967A>T, XM_011515269.2:c.1967A>T, XM_011515269.1:c.1967A>T, XM_017011990.2:c.2225A>T, XM_017011990.1:c.2225A>T, XM_047420202.1:c.2225A>T, XM_047420201.1:c.2225A>T, XM_047420203.1:c.2225A>T, XM_047420204.1:c.2240A>T, NP_055266.2:p.Asp707Val, NP_001334970.1:p.Asp747Val, NP_001334967.1:p.Asp656Val, NP_940820.1:p.Asp747Val, NP_001334972.1:p.Asp747Val, NP_001334968.1:p.Asp621Val, NP_001334971.1:p.Asp702Val, NP_001334969.1:p.Asp707Val, NP_001334974.1:p.Asp625Val, NP_001334975.1:p.Asp625Val, NP_001334973.1:p.Asp590Val, NP_001028777.1:p.Asp742Val, NP_001028776.1:p.Asp712Val, NP_001334965.1:p.Asp747Val, NP_001349608.1:p.Asp747Val, XP_011513568.1:p.Asp742Val, XP_011513569.1:p.Asp712Val, XP_011513567.1:p.Asp747Val, XP_011513571.1:p.Asp656Val, XP_016867479.1:p.Asp742Val, XP_047276158.1:p.Asp742Val, XP_047276157.1:p.Asp742Val, XP_047276159.1:p.Asp742Val, XP_047276160.1:p.Asp747Val

        4.

        rs1488697955 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          7:33257279 (GRCh38)
          7:33296891 (GRCh37)
          Canonical SPDI:
          NC_000007.14:33257278:G:A
          Gene:
          BBS9 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          HGVS:
          NC_000007.14:g.33257279G>A, NC_000007.13:g.33296891G>A, NG_009306.2:g.133036G>A, NM_014451.4:c.486G>A, NM_014451.3:c.486G>A, NM_001348041.4:c.486G>A, NM_001348041.3:c.486G>A, NM_001348041.2:c.486G>A, NM_001348041.1:c.486G>A, NR_145413.3:n.975G>A, NR_145413.2:n.999G>A, NR_145413.1:n.1254G>A, NM_001348038.3:c.213G>A, NM_001348038.2:c.213G>A, NM_001348038.1:c.213G>A, NM_198428.3:c.486G>A, NM_198428.2:c.486G>A, NM_001348043.3:c.486G>A, NM_001348043.2:c.486G>A, NM_001348043.1:c.486G>A, NM_001348039.3:c.213G>A, NM_001348039.2:c.213G>A, NM_001348039.1:c.213G>A, NM_001348042.3:c.351G>A, NM_001348042.2:c.351G>A, NM_001348042.1:c.351G>A, NM_001348040.3:c.486G>A, NM_001348040.2:c.486G>A, NM_001348040.1:c.486G>A, NM_001348045.3:c.120G>A, NM_001348045.2:c.120G>A, NM_001348045.1:c.120G>A, NM_001348037.3:c.120G>A, NM_001348037.2:c.120G>A, NM_001348037.1:c.120G>A, NM_001348046.3:c.120G>A, NM_001348046.2:c.120G>A, NM_001348046.1:c.120G>A, NM_001348044.3:c.120G>A, NM_001348044.2:c.120G>A, NM_001348044.1:c.120G>A, NM_001033605.2:c.486G>A, NM_001033605.1:c.486G>A, NM_001033604.2:c.486G>A, NM_001033604.1:c.486G>A, NR_145412.1:n.765G>A, NR_145411.1:n.765G>A, NM_001348036.1:c.486G>A, NM_001362679.1:c.486G>A, XM_011515270.4:c.486G>A, XM_011515270.3:c.486G>A, XM_011515270.2:c.486G>A, XM_011515270.1:c.486G>A, XM_005249701.4:c.486G>A, XM_005249701.3:c.486G>A, XM_005249701.2:c.486G>A, XM_005249701.1:c.486G>A, XM_011515266.4:c.486G>A, XM_011515266.3:c.486G>A, XM_011515266.2:c.486G>A, XM_011515266.1:c.486G>A, XM_011515267.4:c.486G>A, XM_011515267.3:c.486G>A, XM_011515267.2:c.486G>A, XM_011515267.1:c.486G>A, XM_011515265.3:c.486G>A, XM_011515265.2:c.486G>A, XM_011515265.1:c.486G>A, XM_011515269.3:c.213G>A, XM_011515269.2:c.213G>A, XM_011515269.1:c.213G>A, XM_017011994.3:c.486G>A, XM_017011994.2:c.486G>A, XM_017011994.1:c.486G>A, XR_001744634.3:n.999G>A, XR_001744634.2:n.989G>A, XR_001744634.1:n.1007G>A, XM_017011990.2:c.486G>A, XM_017011990.1:c.486G>A, XM_047420202.1:c.486G>A, XM_047420201.1:c.486G>A, XM_047420203.1:c.486G>A, XM_047420204.1:c.486G>A, NP_055266.2:p.Met162Ile, NP_001334970.1:p.Met162Ile, NP_001334967.1:p.Met71Ile, NP_940820.1:p.Met162Ile, NP_001334972.1:p.Met162Ile, NP_001334968.1:p.Met71Ile, NP_001334971.1:p.Met117Ile, NP_001334969.1:p.Met162Ile, NP_001334974.1:p.Met40Ile, NP_001334966.1:p.Met40Ile, NP_001334975.1:p.Met40Ile, NP_001334973.1:p.Met40Ile, NP_001028777.1:p.Met162Ile, NP_001028776.1:p.Met162Ile, NP_001334965.1:p.Met162Ile, NP_001349608.1:p.Met162Ile, XP_011513572.1:p.Met162Ile, XP_005249758.1:p.Met162Ile, XP_011513568.1:p.Met162Ile, XP_011513569.1:p.Met162Ile, XP_011513567.1:p.Met162Ile, XP_011513571.1:p.Met71Ile, XP_016867483.1:p.Met162Ile, XP_016867479.1:p.Met162Ile, XP_047276158.1:p.Met162Ile, XP_047276157.1:p.Met162Ile, XP_047276159.1:p.Met162Ile, XP_047276160.1:p.Met162Ile

          5.

          rs1488623911 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            7:33388098 (GRCh38)
            7:33427710 (GRCh37)
            Canonical SPDI:
            NC_000007.14:33388097:C:T
            Gene:
            BBS9 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000007.14:g.33388098C>T, NC_000007.13:g.33427710C>T, NG_009306.2:g.263855C>T, NM_014451.4:c.1949C>T, NM_014451.3:c.1949C>T, NM_001348041.4:c.2069C>T, NM_001348041.3:c.2069C>T, NM_001348041.2:c.2069C>T, NM_001348041.1:c.2069C>T, NR_145413.3:n.2702C>T, NR_145413.2:n.2726C>T, NR_145413.1:n.2981C>T, NM_001348038.3:c.1796C>T, NM_001348038.2:c.1796C>T, NM_001348038.1:c.1796C>T, NM_198428.3:c.2069C>T, NM_198428.2:c.2069C>T, NM_001348043.3:c.2069C>T, NM_001348043.2:c.2069C>T, NM_001348043.1:c.2069C>T, NM_001348039.3:c.1691C>T, NM_001348039.2:c.1691C>T, NM_001348039.1:c.1691C>T, NM_001348042.3:c.1934C>T, NM_001348042.2:c.1934C>T, NM_001348042.1:c.1934C>T, NM_001348040.3:c.1949C>T, NM_001348040.2:c.1949C>T, NM_001348040.1:c.1949C>T, NM_001348045.3:c.1703C>T, NM_001348045.2:c.1703C>T, NM_001348045.1:c.1703C>T, NM_001348037.3:c.1703C>T, NM_001348037.2:c.1703C>T, NM_001348037.1:c.1703C>T, NM_001348046.3:c.1703C>T, NM_001348046.2:c.1703C>T, NM_001348046.1:c.1703C>T, NM_001348044.3:c.1598C>T, NM_001348044.2:c.1598C>T, NM_001348044.1:c.1598C>T, NM_001033605.2:c.2054C>T, NM_001033605.1:c.2054C>T, NM_001033604.2:c.1964C>T, NM_001033604.1:c.1964C>T, NR_145412.1:n.2540C>T, NR_145411.1:n.2348C>T, NM_001348036.1:c.2069C>T, NM_001362679.1:c.2069C>T, XM_011515270.4:c.2069C>T, XM_011515270.3:c.2069C>T, XM_011515270.2:c.2069C>T, XM_011515270.1:c.2069C>T, XM_005249701.4:c.2069C>T, XM_005249701.3:c.2069C>T, XM_005249701.2:c.2069C>T, XM_005249701.1:c.2069C>T, XM_011515266.4:c.2054C>T, XM_011515266.3:c.2054C>T, XM_011515266.2:c.2054C>T, XM_011515266.1:c.2054C>T, XM_011515267.4:c.1964C>T, XM_011515267.3:c.1964C>T, XM_011515267.2:c.1964C>T, XM_011515267.1:c.1964C>T, XM_011515265.3:c.2069C>T, XM_011515265.2:c.2069C>T, XM_011515265.1:c.2069C>T, XM_011515269.3:c.1796C>T, XM_011515269.2:c.1796C>T, XM_011515269.1:c.1796C>T, XM_017011990.2:c.2054C>T, XM_017011990.1:c.2054C>T, XM_047420202.1:c.2054C>T, XM_047420201.1:c.2054C>T, XM_047420203.1:c.2054C>T, XM_047420204.1:c.2069C>T, NP_055266.2:p.Ala650Val, NP_001334970.1:p.Ala690Val, NP_001334967.1:p.Ala599Val, NP_940820.1:p.Ala690Val, NP_001334972.1:p.Ala690Val, NP_001334968.1:p.Ala564Val, NP_001334971.1:p.Ala645Val, NP_001334969.1:p.Ala650Val, NP_001334974.1:p.Ala568Val, NP_001334966.1:p.Ala568Val, NP_001334975.1:p.Ala568Val, NP_001334973.1:p.Ala533Val, NP_001028777.1:p.Ala685Val, NP_001028776.1:p.Ala655Val, NP_001334965.1:p.Ala690Val, NP_001349608.1:p.Ala690Val, XP_011513572.1:p.Ala690Val, XP_005249758.1:p.Ala690Val, XP_011513568.1:p.Ala685Val, XP_011513569.1:p.Ala655Val, XP_011513567.1:p.Ala690Val, XP_011513571.1:p.Ala599Val, XP_016867479.1:p.Ala685Val, XP_047276158.1:p.Ala685Val, XP_047276157.1:p.Ala685Val, XP_047276159.1:p.Ala685Val, XP_047276160.1:p.Ala690Val

            6.

            rs1488560000 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              7:33152752 (GRCh38)
              7:33192364 (GRCh37)
              Canonical SPDI:
              NC_000007.14:33152751:A:G
              Gene:
              BBS9 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,5_prime_UTR_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000071/1 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000142/2 (TOMMO)
              HGVS:
              NC_000007.14:g.33152752A>G, NC_000007.13:g.33192364A>G, NG_009306.2:g.28509A>G, NM_014451.4:c.164A>G, NM_014451.3:c.164A>G, NM_001348041.4:c.164A>G, NM_001348041.3:c.164A>G, NM_001348041.2:c.164A>G, NM_001348041.1:c.164A>G, NR_145413.3:n.653A>G, NR_145413.2:n.677A>G, NR_145413.1:n.932A>G, NM_001348038.3:c.-114A>G, NM_001348038.2:c.-114A>G, NM_001348038.1:c.-114A>G, NM_198428.3:c.164A>G, NM_198428.2:c.164A>G, NM_001348043.3:c.164A>G, NM_001348043.2:c.164A>G, NM_001348043.1:c.164A>G, NM_001348039.3:c.-114A>G, NM_001348039.2:c.-114A>G, NM_001348039.1:c.-114A>G, NM_001348042.3:c.29A>G, NM_001348042.2:c.29A>G, NM_001348042.1:c.29A>G, NM_001348040.3:c.164A>G, NM_001348040.2:c.164A>G, NM_001348040.1:c.164A>G, NM_001348045.3:c.-138A>G, NM_001348045.2:c.-138A>G, NM_001348045.1:c.-138A>G, NM_001348037.3:c.-138A>G, NM_001348037.2:c.-138A>G, NM_001348037.1:c.-138A>G, NM_001033605.2:c.164A>G, NM_001033605.1:c.164A>G, NM_001033604.2:c.164A>G, NM_001033604.1:c.164A>G, NR_145412.1:n.443A>G, NR_145411.1:n.443A>G, NM_001348036.1:c.164A>G, NM_001362679.1:c.164A>G, XM_011515270.4:c.164A>G, XM_011515270.3:c.164A>G, XM_011515270.2:c.164A>G, XM_011515270.1:c.164A>G, XM_005249701.4:c.164A>G, XM_005249701.3:c.164A>G, XM_005249701.2:c.164A>G, XM_005249701.1:c.164A>G, XM_011515266.4:c.164A>G, XM_011515266.3:c.164A>G, XM_011515266.2:c.164A>G, XM_011515266.1:c.164A>G, XM_011515267.4:c.164A>G, XM_011515267.3:c.164A>G, XM_011515267.2:c.164A>G, XM_011515267.1:c.164A>G, XM_011515265.3:c.164A>G, XM_011515265.2:c.164A>G, XM_011515265.1:c.164A>G, XM_017011994.3:c.164A>G, XM_017011994.2:c.164A>G, XM_017011994.1:c.164A>G, XR_001744634.3:n.677A>G, XR_001744634.2:n.667A>G, XR_001744634.1:n.685A>G, XM_017011990.2:c.164A>G, XM_017011990.1:c.164A>G, XM_047420202.1:c.164A>G, XM_047420201.1:c.164A>G, XM_047420203.1:c.164A>G, XM_047420204.1:c.164A>G, NP_055266.2:p.His55Arg, NP_001334970.1:p.His55Arg, NP_940820.1:p.His55Arg, NP_001334972.1:p.His55Arg, NP_001334971.1:p.His10Arg, NP_001334969.1:p.His55Arg, NP_001028777.1:p.His55Arg, NP_001028776.1:p.His55Arg, NP_001334965.1:p.His55Arg, NP_001349608.1:p.His55Arg, XP_011513572.1:p.His55Arg, XP_005249758.1:p.His55Arg, XP_011513568.1:p.His55Arg, XP_011513569.1:p.His55Arg, XP_011513567.1:p.His55Arg, XP_016867483.1:p.His55Arg, XP_016867479.1:p.His55Arg, XP_047276158.1:p.His55Arg, XP_047276157.1:p.His55Arg, XP_047276159.1:p.His55Arg, XP_047276160.1:p.His55Arg

              7.

              rs1487662240 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                7:33505589 (GRCh38)
                7:33545201 (GRCh37)
                Canonical SPDI:
                NC_000007.14:33505588:C:T
                Gene:
                BBS9 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,stop_gained,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.0002/1 (ALFA)
                T=0.0002/1 (Estonian)
                HGVS:
                NC_000007.14:g.33505589C>T, NC_000007.13:g.33545201C>T, NG_009306.2:g.381346C>T, NM_014451.4:c.2122C>T, NM_014451.3:c.2122C>T, NM_001348041.4:c.2242C>T, NM_001348041.3:c.2242C>T, NM_001348041.2:c.2242C>T, NM_001348041.1:c.2242C>T, NR_145413.3:n.2875C>T, NR_145413.2:n.2899C>T, NR_145413.1:n.3154C>T, NM_001348038.3:c.1969C>T, NM_001348038.2:c.1969C>T, NM_001348038.1:c.1969C>T, NM_198428.3:c.2242C>T, NM_198428.2:c.2242C>T, NM_001348043.3:c.2242C>T, NM_001348043.2:c.2242C>T, NM_001348043.1:c.2242C>T, NM_001348039.3:c.1864C>T, NM_001348039.2:c.1864C>T, NM_001348039.1:c.1864C>T, NM_001348042.3:c.2107C>T, NM_001348042.2:c.2107C>T, NM_001348042.1:c.2107C>T, NM_001348040.3:c.2122C>T, NM_001348040.2:c.2122C>T, NM_001348040.1:c.2122C>T, NM_001348045.3:c.1876C>T, NM_001348045.2:c.1876C>T, NM_001348045.1:c.1876C>T, NM_001348046.3:c.1876C>T, NM_001348046.2:c.1876C>T, NM_001348046.1:c.1876C>T, NM_001348044.3:c.1771C>T, NM_001348044.2:c.1771C>T, NM_001348044.1:c.1771C>T, NM_001033605.2:c.2227C>T, NM_001033605.1:c.2227C>T, NM_001033604.2:c.2137C>T, NM_001033604.1:c.2137C>T, NR_145412.1:n.2713C>T, NR_145411.1:n.2521C>T, NM_001348036.1:c.2242C>T, NM_001362679.1:c.2242C>T, XM_011515266.4:c.2227C>T, XM_011515266.3:c.2227C>T, XM_011515266.2:c.2227C>T, XM_011515266.1:c.2227C>T, XM_011515267.4:c.2137C>T, XM_011515267.3:c.2137C>T, XM_011515267.2:c.2137C>T, XM_011515267.1:c.2137C>T, XM_011515265.3:c.2242C>T, XM_011515265.2:c.2242C>T, XM_011515265.1:c.2242C>T, XM_011515269.3:c.1969C>T, XM_011515269.2:c.1969C>T, XM_011515269.1:c.1969C>T, XM_017011990.2:c.2227C>T, XM_017011990.1:c.2227C>T, XM_047420202.1:c.2227C>T, XM_047420201.1:c.2227C>T, XM_047420203.1:c.2227C>T, XM_047420204.1:c.2242C>T, NP_055266.2:p.Gln708Ter, NP_001334970.1:p.Gln748Ter, NP_001334967.1:p.Gln657Ter, NP_940820.1:p.Gln748Ter, NP_001334972.1:p.Gln748Ter, NP_001334968.1:p.Gln622Ter, NP_001334971.1:p.Gln703Ter, NP_001334969.1:p.Gln708Ter, NP_001334974.1:p.Gln626Ter, NP_001334975.1:p.Gln626Ter, NP_001334973.1:p.Gln591Ter, NP_001028777.1:p.Gln743Ter, NP_001028776.1:p.Gln713Ter, NP_001334965.1:p.Gln748Ter, NP_001349608.1:p.Gln748Ter, XP_011513568.1:p.Gln743Ter, XP_011513569.1:p.Gln713Ter, XP_011513567.1:p.Gln748Ter, XP_011513571.1:p.Gln657Ter, XP_016867479.1:p.Gln743Ter, XP_047276158.1:p.Gln743Ter, XP_047276157.1:p.Gln743Ter, XP_047276159.1:p.Gln743Ter, XP_047276160.1:p.Gln748Ter

                8.

                rs1486252113 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  7:33357912 (GRCh38)
                  7:33397524 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:33357911:C:T
                  Gene:
                  BBS9 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000056/14 (GnomAD_exomes)
                  T=0.000087/23 (TOPMED)
                  T=0.0001/14 (GnomAD)
                  HGVS:
                  NC_000007.14:g.33357912C>T, NC_000007.13:g.33397524C>T, NG_009306.2:g.233669C>T, NM_014451.4:c.1490C>T, NM_014451.3:c.1490C>T, NM_001348041.4:c.1610C>T, NM_001348041.3:c.1610C>T, NM_001348041.2:c.1610C>T, NM_001348041.1:c.1610C>T, NR_145413.3:n.2243C>T, NR_145413.2:n.2267C>T, NR_145413.1:n.2522C>T, NM_001348038.3:c.1337C>T, NM_001348038.2:c.1337C>T, NM_001348038.1:c.1337C>T, NM_198428.3:c.1610C>T, NM_198428.2:c.1610C>T, NM_001348043.3:c.1610C>T, NM_001348043.2:c.1610C>T, NM_001348043.1:c.1610C>T, NM_001348039.3:c.1232C>T, NM_001348039.2:c.1232C>T, NM_001348039.1:c.1232C>T, NM_001348042.3:c.1475C>T, NM_001348042.2:c.1475C>T, NM_001348042.1:c.1475C>T, NM_001348040.3:c.1490C>T, NM_001348040.2:c.1490C>T, NM_001348040.1:c.1490C>T, NM_001348045.3:c.1244C>T, NM_001348045.2:c.1244C>T, NM_001348045.1:c.1244C>T, NM_001348037.3:c.1244C>T, NM_001348037.2:c.1244C>T, NM_001348037.1:c.1244C>T, NM_001348046.3:c.1244C>T, NM_001348046.2:c.1244C>T, NM_001348046.1:c.1244C>T, NM_001348044.3:c.1139C>T, NM_001348044.2:c.1139C>T, NM_001348044.1:c.1139C>T, NM_001033605.2:c.1595C>T, NM_001033605.1:c.1595C>T, NM_001033604.2:c.1505C>T, NM_001033604.1:c.1505C>T, NR_145412.1:n.2081C>T, NR_145411.1:n.1889C>T, NM_001348036.1:c.1610C>T, NM_001362679.1:c.1610C>T, XM_011515270.4:c.1610C>T, XM_011515270.3:c.1610C>T, XM_011515270.2:c.1610C>T, XM_011515270.1:c.1610C>T, XM_005249701.4:c.1610C>T, XM_005249701.3:c.1610C>T, XM_005249701.2:c.1610C>T, XM_005249701.1:c.1610C>T, XM_011515266.4:c.1595C>T, XM_011515266.3:c.1595C>T, XM_011515266.2:c.1595C>T, XM_011515266.1:c.1595C>T, XM_011515267.4:c.1505C>T, XM_011515267.3:c.1505C>T, XM_011515267.2:c.1505C>T, XM_011515267.1:c.1505C>T, XM_011515265.3:c.1610C>T, XM_011515265.2:c.1610C>T, XM_011515265.1:c.1610C>T, XM_011515269.3:c.1337C>T, XM_011515269.2:c.1337C>T, XM_011515269.1:c.1337C>T, XM_017011994.3:c.1610C>T, XM_017011994.2:c.1610C>T, XM_017011994.1:c.1610C>T, XM_017011990.2:c.1595C>T, XM_017011990.1:c.1595C>T, XM_047420202.1:c.1595C>T, XM_047420201.1:c.1595C>T, XM_047420203.1:c.1595C>T, XM_047420204.1:c.1610C>T, NP_055266.2:p.Pro497Leu, NP_001334970.1:p.Pro537Leu, NP_001334967.1:p.Pro446Leu, NP_940820.1:p.Pro537Leu, NP_001334972.1:p.Pro537Leu, NP_001334968.1:p.Pro411Leu, NP_001334971.1:p.Pro492Leu, NP_001334969.1:p.Pro497Leu, NP_001334974.1:p.Pro415Leu, NP_001334966.1:p.Pro415Leu, NP_001334975.1:p.Pro415Leu, NP_001334973.1:p.Pro380Leu, NP_001028777.1:p.Pro532Leu, NP_001028776.1:p.Pro502Leu, NP_001334965.1:p.Pro537Leu, NP_001349608.1:p.Pro537Leu, XP_011513572.1:p.Pro537Leu, XP_005249758.1:p.Pro537Leu, XP_011513568.1:p.Pro532Leu, XP_011513569.1:p.Pro502Leu, XP_011513567.1:p.Pro537Leu, XP_011513571.1:p.Pro446Leu, XP_016867483.1:p.Pro537Leu, XP_016867479.1:p.Pro532Leu, XP_047276158.1:p.Pro532Leu, XP_047276157.1:p.Pro532Leu, XP_047276159.1:p.Pro532Leu, XP_047276160.1:p.Pro537Leu

                  9.

                  rs1481731972 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    7:33604913 (GRCh38)
                    7:33644525 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:33604912:A:G
                    Gene:
                    BBS9 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000007.14:g.33604913A>G, NC_000007.13:g.33644525A>G, NG_009306.2:g.480670A>G, NM_014451.4:c.2450A>G, NM_014451.3:c.2450A>G, NM_001348041.4:c.2570A>G, NM_001348041.3:c.2570A>G, NM_001348041.2:c.2570A>G, NM_001348041.1:c.2570A>G, NR_145413.3:n.3203A>G, NR_145413.2:n.3227A>G, NR_145413.1:n.3482A>G, NM_001348038.3:c.2297A>G, NM_001348038.2:c.2297A>G, NM_001348038.1:c.2297A>G, NM_198428.3:c.2570A>G, NM_198428.2:c.2570A>G, NM_001348043.3:c.2570A>G, NM_001348043.2:c.2570A>G, NM_001348043.1:c.2570A>G, NM_001348039.3:c.2192A>G, NM_001348039.2:c.2192A>G, NM_001348039.1:c.2192A>G, NM_001348042.3:c.2435A>G, NM_001348042.2:c.2435A>G, NM_001348042.1:c.2435A>G, NM_001348040.3:c.2450A>G, NM_001348040.2:c.2450A>G, NM_001348040.1:c.2450A>G, NM_001348045.3:c.2204A>G, NM_001348045.2:c.2204A>G, NM_001348045.1:c.2204A>G, NM_001348037.3:c.2021A>G, NM_001348037.2:c.2021A>G, NM_001348037.1:c.2021A>G, NM_001348046.3:c.2204A>G, NM_001348046.2:c.2204A>G, NM_001348046.1:c.2204A>G, NM_001348044.3:c.2099A>G, NM_001348044.2:c.2099A>G, NM_001348044.1:c.2099A>G, NM_001033605.2:c.2555A>G, NM_001033605.1:c.2555A>G, NM_001033604.2:c.2465A>G, NM_001033604.1:c.2465A>G, NR_145412.1:n.3041A>G, NR_145411.1:n.2928A>G, NM_001348036.1:c.2570A>G, XM_011515266.4:c.2555A>G, XM_011515266.3:c.2555A>G, XM_011515266.2:c.2555A>G, XM_011515266.1:c.2555A>G, XM_011515267.4:c.2465A>G, XM_011515267.3:c.2465A>G, XM_011515267.2:c.2465A>G, XM_011515267.1:c.2465A>G, XM_011515265.3:c.2570A>G, XM_011515265.2:c.2570A>G, XM_011515265.1:c.2570A>G, XM_011515269.3:c.2297A>G, XM_011515269.2:c.2297A>G, XM_011515269.1:c.2297A>G, XM_017011990.2:c.2555A>G, XM_017011990.1:c.2555A>G, XM_047420202.1:c.2555A>G, XM_047420201.1:c.2555A>G, NP_055266.2:p.Glu817Gly, NP_001334970.1:p.Glu857Gly, NP_001334967.1:p.Glu766Gly, NP_940820.1:p.Glu857Gly, NP_001334972.1:p.Glu857Gly, NP_001334968.1:p.Glu731Gly, NP_001334971.1:p.Glu812Gly, NP_001334969.1:p.Glu817Gly, NP_001334974.1:p.Glu735Gly, NP_001334966.1:p.Glu674Gly, NP_001334975.1:p.Glu735Gly, NP_001334973.1:p.Glu700Gly, NP_001028777.1:p.Glu852Gly, NP_001028776.1:p.Glu822Gly, NP_001334965.1:p.Glu857Gly, XP_011513568.1:p.Glu852Gly, XP_011513569.1:p.Glu822Gly, XP_011513567.1:p.Glu857Gly, XP_011513571.1:p.Glu766Gly, XP_016867479.1:p.Glu852Gly, XP_047276158.1:p.Glu852Gly, XP_047276157.1:p.Glu852Gly

                    10.

                    rs1480367032 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      GA>- [Show Flanks]
                      Chromosome:
                      7:33340920 (GRCh38)
                      7:33380532 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:33340913:GAGAGAGA:GAGAGA
                      Gene:
                      BBS9 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      -=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000007.14:g.33340914GA[3], NC_000007.13:g.33380526GA[3], NG_009306.2:g.216671GA[3], NM_014451.4:c.1222_1223del, NM_014451.3:c.1222_1223del, NM_001348041.4:c.1222_1223del, NM_001348041.3:c.1222_1223del, NM_001348041.2:c.1222_1223del, NM_001348041.1:c.1222_1223del, NR_145413.3:n.1705GA[3], NR_145413.2:n.1729GA[3], NR_145413.1:n.1984GA[3], NM_001348038.3:c.949_950del, NM_001348038.2:c.949_950del, NM_001348038.1:c.949_950del, NM_198428.3:c.1222_1223del, NM_198428.2:c.1222_1223del, NM_001348043.3:c.1222_1223del, NM_001348043.2:c.1222_1223del, NM_001348043.1:c.1222_1223del, NM_001348039.3:c.949_950del, NM_001348039.2:c.949_950del, NM_001348039.1:c.949_950del, NM_001348042.3:c.1087_1088del, NM_001348042.2:c.1087_1088del, NM_001348042.1:c.1087_1088del, NM_001348040.3:c.1222_1223del, NM_001348040.2:c.1222_1223del, NM_001348040.1:c.1222_1223del, NM_001348045.3:c.856_857del, NM_001348045.2:c.856_857del, NM_001348045.1:c.856_857del, NM_001348037.3:c.856_857del, NM_001348037.2:c.856_857del, NM_001348037.1:c.856_857del, NM_001348046.3:c.856_857del, NM_001348046.2:c.856_857del, NM_001348046.1:c.856_857del, NM_001348044.3:c.856_857del, NM_001348044.2:c.856_857del, NM_001348044.1:c.856_857del, NM_001033605.2:c.1222_1223del, NM_001033605.1:c.1222_1223del, NM_001033604.2:c.1222_1223del, NM_001033604.1:c.1222_1223del, NR_145412.1:n.1495GA[3], NR_145411.1:n.1495GA[3], NM_001348036.1:c.1222_1223del, NM_001362679.1:c.1222_1223del, XM_011515270.4:c.1222_1223del, XM_011515270.3:c.1222_1223del, XM_011515270.2:c.1222_1223del, XM_011515270.1:c.1222_1223del, XM_005249701.4:c.1222_1223del, XM_005249701.3:c.1222_1223del, XM_005249701.2:c.1222_1223del, XM_005249701.1:c.1222_1223del, XM_011515266.4:c.1222_1223del, XM_011515266.3:c.1222_1223del, XM_011515266.2:c.1222_1223del, XM_011515266.1:c.1222_1223del, XM_011515267.4:c.1222_1223del, XM_011515267.3:c.1222_1223del, XM_011515267.2:c.1222_1223del, XM_011515267.1:c.1222_1223del, XM_011515265.3:c.1222_1223del, XM_011515265.2:c.1222_1223del, XM_011515265.1:c.1222_1223del, XM_011515269.3:c.949_950del, XM_011515269.2:c.949_950del, XM_011515269.1:c.949_950del, XM_017011994.3:c.1222_1223del, XM_017011994.2:c.1222_1223del, XM_017011994.1:c.1222_1223del, XR_001744634.3:n.1729GA[3], XR_001744634.2:n.1719GA[3], XR_001744634.1:n.1737GA[3], XM_017011990.2:c.1222_1223del, XM_017011990.1:c.1222_1223del, XM_047420202.1:c.1222_1223del, XM_047420201.1:c.1222_1223del, XM_047420203.1:c.1222_1223del, XM_047420204.1:c.1222_1223del, NP_055266.2:p.Glu408fs, NP_001334970.1:p.Glu408fs, NP_001334967.1:p.Glu317fs, NP_940820.1:p.Glu408fs, NP_001334972.1:p.Glu408fs, NP_001334968.1:p.Glu317fs, NP_001334971.1:p.Glu363fs, NP_001334969.1:p.Glu408fs, NP_001334974.1:p.Glu286fs, NP_001334966.1:p.Glu286fs, NP_001334975.1:p.Glu286fs, NP_001334973.1:p.Glu286fs, NP_001028777.1:p.Glu408fs, NP_001028776.1:p.Glu408fs, NP_001334965.1:p.Glu408fs, NP_001349608.1:p.Glu408fs, XP_011513572.1:p.Glu408fs, XP_005249758.1:p.Glu408fs, XP_011513568.1:p.Glu408fs, XP_011513569.1:p.Glu408fs, XP_011513567.1:p.Glu408fs, XP_011513571.1:p.Glu317fs, XP_016867483.1:p.Glu408fs, XP_016867479.1:p.Glu408fs, XP_047276158.1:p.Glu408fs, XP_047276157.1:p.Glu408fs, XP_047276159.1:p.Glu408fs, XP_047276160.1:p.Glu408fs

                      11.

                      rs1475362320 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        7:33534087 (GRCh38)
                        7:33573699 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:33534086:A:G
                        Gene:
                        BBS9 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000007.14:g.33534087A>G, NC_000007.13:g.33573699A>G, NG_009306.2:g.409844A>G, NM_014451.4:c.2312A>G, NM_014451.3:c.2312A>G, NM_001348041.4:c.2432A>G, NM_001348041.3:c.2432A>G, NM_001348041.2:c.2432A>G, NM_001348041.1:c.2432A>G, NR_145413.3:n.3065A>G, NR_145413.2:n.3089A>G, NR_145413.1:n.3344A>G, NM_001348038.3:c.2159A>G, NM_001348038.2:c.2159A>G, NM_001348038.1:c.2159A>G, NM_198428.3:c.2432A>G, NM_198428.2:c.2432A>G, NM_001348043.3:c.2432A>G, NM_001348043.2:c.2432A>G, NM_001348043.1:c.2432A>G, NM_001348039.3:c.2054A>G, NM_001348039.2:c.2054A>G, NM_001348039.1:c.2054A>G, NM_001348042.3:c.2297A>G, NM_001348042.2:c.2297A>G, NM_001348042.1:c.2297A>G, NM_001348040.3:c.2312A>G, NM_001348040.2:c.2312A>G, NM_001348040.1:c.2312A>G, NM_001348045.3:c.2066A>G, NM_001348045.2:c.2066A>G, NM_001348045.1:c.2066A>G, NM_001348037.3:c.1883A>G, NM_001348037.2:c.1883A>G, NM_001348037.1:c.1883A>G, NM_001348046.3:c.2066A>G, NM_001348046.2:c.2066A>G, NM_001348046.1:c.2066A>G, NM_001348044.3:c.1961A>G, NM_001348044.2:c.1961A>G, NM_001348044.1:c.1961A>G, NM_001033605.2:c.2417A>G, NM_001033605.1:c.2417A>G, NM_001033604.2:c.2327A>G, NM_001033604.1:c.2327A>G, NR_145412.1:n.2903A>G, NR_145411.1:n.2711A>G, NM_001348036.1:c.2432A>G, NM_001362679.1:c.2432A>G, XM_011515266.4:c.2417A>G, XM_011515266.3:c.2417A>G, XM_011515266.2:c.2417A>G, XM_011515266.1:c.2417A>G, XM_011515267.4:c.2327A>G, XM_011515267.3:c.2327A>G, XM_011515267.2:c.2327A>G, XM_011515267.1:c.2327A>G, XM_011515265.3:c.2432A>G, XM_011515265.2:c.2432A>G, XM_011515265.1:c.2432A>G, XM_011515269.3:c.2159A>G, XM_011515269.2:c.2159A>G, XM_011515269.1:c.2159A>G, XM_017011990.2:c.2417A>G, XM_017011990.1:c.2417A>G, XM_047420202.1:c.2417A>G, XM_047420201.1:c.2417A>G, XM_047420203.1:c.2417A>G, XM_047420204.1:c.2432A>G, NP_055266.2:p.His771Arg, NP_001334970.1:p.His811Arg, NP_001334967.1:p.His720Arg, NP_940820.1:p.His811Arg, NP_001334972.1:p.His811Arg, NP_001334968.1:p.His685Arg, NP_001334971.1:p.His766Arg, NP_001334969.1:p.His771Arg, NP_001334974.1:p.His689Arg, NP_001334966.1:p.His628Arg, NP_001334975.1:p.His689Arg, NP_001334973.1:p.His654Arg, NP_001028777.1:p.His806Arg, NP_001028776.1:p.His776Arg, NP_001334965.1:p.His811Arg, NP_001349608.1:p.His811Arg, XP_011513568.1:p.His806Arg, XP_011513569.1:p.His776Arg, XP_011513567.1:p.His811Arg, XP_011513571.1:p.His720Arg, XP_016867479.1:p.His806Arg, XP_047276158.1:p.His806Arg, XP_047276157.1:p.His806Arg, XP_047276159.1:p.His806Arg, XP_047276160.1:p.His811Arg

                        12.

                        rs1472827261 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          7:33383810 (GRCh38)
                          7:33423422 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:33383809:A:G
                          Gene:
                          BBS9 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000224/1 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000223/1 (Estonian)
                          HGVS:
                          NC_000007.14:g.33383810A>G, NC_000007.13:g.33423422A>G, NG_009306.2:g.259567A>G, NM_014451.4:c.1814A>G, NM_014451.3:c.1814A>G, NM_001348041.4:c.1934A>G, NM_001348041.3:c.1934A>G, NM_001348041.2:c.1934A>G, NM_001348041.1:c.1934A>G, NR_145413.3:n.2567A>G, NR_145413.2:n.2591A>G, NR_145413.1:n.2846A>G, NM_001348038.3:c.1661A>G, NM_001348038.2:c.1661A>G, NM_001348038.1:c.1661A>G, NM_198428.3:c.1934A>G, NM_198428.2:c.1934A>G, NM_001348043.3:c.1934A>G, NM_001348043.2:c.1934A>G, NM_001348043.1:c.1934A>G, NM_001348039.3:c.1556A>G, NM_001348039.2:c.1556A>G, NM_001348039.1:c.1556A>G, NM_001348042.3:c.1799A>G, NM_001348042.2:c.1799A>G, NM_001348042.1:c.1799A>G, NM_001348040.3:c.1814A>G, NM_001348040.2:c.1814A>G, NM_001348040.1:c.1814A>G, NM_001348045.3:c.1568A>G, NM_001348045.2:c.1568A>G, NM_001348045.1:c.1568A>G, NM_001348037.3:c.1568A>G, NM_001348037.2:c.1568A>G, NM_001348037.1:c.1568A>G, NM_001348046.3:c.1568A>G, NM_001348046.2:c.1568A>G, NM_001348046.1:c.1568A>G, NM_001348044.3:c.1463A>G, NM_001348044.2:c.1463A>G, NM_001348044.1:c.1463A>G, NM_001033605.2:c.1919A>G, NM_001033605.1:c.1919A>G, NM_001033604.2:c.1829A>G, NM_001033604.1:c.1829A>G, NR_145412.1:n.2405A>G, NR_145411.1:n.2213A>G, NM_001348036.1:c.1934A>G, NM_001362679.1:c.1934A>G, XM_011515270.4:c.1934A>G, XM_011515270.3:c.1934A>G, XM_011515270.2:c.1934A>G, XM_011515270.1:c.1934A>G, XM_005249701.4:c.1934A>G, XM_005249701.3:c.1934A>G, XM_005249701.2:c.1934A>G, XM_005249701.1:c.1934A>G, XM_011515266.4:c.1919A>G, XM_011515266.3:c.1919A>G, XM_011515266.2:c.1919A>G, XM_011515266.1:c.1919A>G, XM_011515267.4:c.1829A>G, XM_011515267.3:c.1829A>G, XM_011515267.2:c.1829A>G, XM_011515267.1:c.1829A>G, XM_011515265.3:c.1934A>G, XM_011515265.2:c.1934A>G, XM_011515265.1:c.1934A>G, XM_011515269.3:c.1661A>G, XM_011515269.2:c.1661A>G, XM_011515269.1:c.1661A>G, XM_017011990.2:c.1919A>G, XM_017011990.1:c.1919A>G, XM_047420202.1:c.1919A>G, XM_047420201.1:c.1919A>G, XM_047420203.1:c.1919A>G, XM_047420204.1:c.1934A>G, NP_055266.2:p.Tyr605Cys, NP_001334970.1:p.Tyr645Cys, NP_001334967.1:p.Tyr554Cys, NP_940820.1:p.Tyr645Cys, NP_001334972.1:p.Tyr645Cys, NP_001334968.1:p.Tyr519Cys, NP_001334971.1:p.Tyr600Cys, NP_001334969.1:p.Tyr605Cys, NP_001334974.1:p.Tyr523Cys, NP_001334966.1:p.Tyr523Cys, NP_001334975.1:p.Tyr523Cys, NP_001334973.1:p.Tyr488Cys, NP_001028777.1:p.Tyr640Cys, NP_001028776.1:p.Tyr610Cys, NP_001334965.1:p.Tyr645Cys, NP_001349608.1:p.Tyr645Cys, XP_011513572.1:p.Tyr645Cys, XP_005249758.1:p.Tyr645Cys, XP_011513568.1:p.Tyr640Cys, XP_011513569.1:p.Tyr610Cys, XP_011513567.1:p.Tyr645Cys, XP_011513571.1:p.Tyr554Cys, XP_016867479.1:p.Tyr640Cys, XP_047276158.1:p.Tyr640Cys, XP_047276157.1:p.Tyr640Cys, XP_047276159.1:p.Tyr640Cys, XP_047276160.1:p.Tyr645Cys

                          13.

                          rs1470680412 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            7:33604892 (GRCh38)
                            7:33644504 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:33604891:A:C
                            Gene:
                            BBS9 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            HGVS:
                            NC_000007.14:g.33604892A>C, NC_000007.13:g.33644504A>C, NG_009306.2:g.480649A>C, NM_014451.4:c.2429A>C, NM_014451.3:c.2429A>C, NM_001348041.4:c.2549A>C, NM_001348041.3:c.2549A>C, NM_001348041.2:c.2549A>C, NM_001348041.1:c.2549A>C, NR_145413.3:n.3182A>C, NR_145413.2:n.3206A>C, NR_145413.1:n.3461A>C, NM_001348038.3:c.2276A>C, NM_001348038.2:c.2276A>C, NM_001348038.1:c.2276A>C, NM_198428.3:c.2549A>C, NM_198428.2:c.2549A>C, NM_001348043.3:c.2549A>C, NM_001348043.2:c.2549A>C, NM_001348043.1:c.2549A>C, NM_001348039.3:c.2171A>C, NM_001348039.2:c.2171A>C, NM_001348039.1:c.2171A>C, NM_001348042.3:c.2414A>C, NM_001348042.2:c.2414A>C, NM_001348042.1:c.2414A>C, NM_001348040.3:c.2429A>C, NM_001348040.2:c.2429A>C, NM_001348040.1:c.2429A>C, NM_001348045.3:c.2183A>C, NM_001348045.2:c.2183A>C, NM_001348045.1:c.2183A>C, NM_001348037.3:c.2000A>C, NM_001348037.2:c.2000A>C, NM_001348037.1:c.2000A>C, NM_001348046.3:c.2183A>C, NM_001348046.2:c.2183A>C, NM_001348046.1:c.2183A>C, NM_001348044.3:c.2078A>C, NM_001348044.2:c.2078A>C, NM_001348044.1:c.2078A>C, NM_001033605.2:c.2534A>C, NM_001033605.1:c.2534A>C, NM_001033604.2:c.2444A>C, NM_001033604.1:c.2444A>C, NR_145412.1:n.3020A>C, NR_145411.1:n.2907A>C, NM_001348036.1:c.2549A>C, XM_011515266.4:c.2534A>C, XM_011515266.3:c.2534A>C, XM_011515266.2:c.2534A>C, XM_011515266.1:c.2534A>C, XM_011515267.4:c.2444A>C, XM_011515267.3:c.2444A>C, XM_011515267.2:c.2444A>C, XM_011515267.1:c.2444A>C, XM_011515265.3:c.2549A>C, XM_011515265.2:c.2549A>C, XM_011515265.1:c.2549A>C, XM_011515269.3:c.2276A>C, XM_011515269.2:c.2276A>C, XM_011515269.1:c.2276A>C, XM_017011990.2:c.2534A>C, XM_017011990.1:c.2534A>C, XM_047420202.1:c.2534A>C, XM_047420201.1:c.2534A>C, NP_055266.2:p.Asp810Ala, NP_001334970.1:p.Asp850Ala, NP_001334967.1:p.Asp759Ala, NP_940820.1:p.Asp850Ala, NP_001334972.1:p.Asp850Ala, NP_001334968.1:p.Asp724Ala, NP_001334971.1:p.Asp805Ala, NP_001334969.1:p.Asp810Ala, NP_001334974.1:p.Asp728Ala, NP_001334966.1:p.Asp667Ala, NP_001334975.1:p.Asp728Ala, NP_001334973.1:p.Asp693Ala, NP_001028777.1:p.Asp845Ala, NP_001028776.1:p.Asp815Ala, NP_001334965.1:p.Asp850Ala, XP_011513568.1:p.Asp845Ala, XP_011513569.1:p.Asp815Ala, XP_011513567.1:p.Asp850Ala, XP_011513571.1:p.Asp759Ala, XP_016867479.1:p.Asp845Ala, XP_047276158.1:p.Asp845Ala, XP_047276157.1:p.Asp845Ala

                            14.

                            rs1470489475 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              7:33146320 (GRCh38)
                              7:33185932 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:33146319:G:C
                              Gene:
                              BBS9 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,5_prime_UTR_variant,intron_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000007.14:g.33146320G>C, NC_000007.13:g.33185932G>C, NG_009306.2:g.22077G>C, NM_014451.4:c.68G>C, NM_014451.3:c.68G>C, NM_001348041.4:c.68G>C, NM_001348041.3:c.68G>C, NM_001348041.2:c.68G>C, NM_001348041.1:c.68G>C, NR_145413.3:n.557G>C, NR_145413.2:n.581G>C, NR_145413.1:n.836G>C, NM_001348038.3:c.-210G>C, NM_001348038.2:c.-210G>C, NM_001348038.1:c.-210G>C, NM_198428.3:c.68G>C, NM_198428.2:c.68G>C, NM_001348043.3:c.68G>C, NM_001348043.2:c.68G>C, NM_001348043.1:c.68G>C, NM_001348039.3:c.-210G>C, NM_001348039.2:c.-210G>C, NM_001348039.1:c.-210G>C, NM_001348040.3:c.68G>C, NM_001348040.2:c.68G>C, NM_001348040.1:c.68G>C, NM_001348037.3:c.-234G>C, NM_001348037.2:c.-234G>C, NM_001348037.1:c.-234G>C, NM_001033605.2:c.68G>C, NM_001033605.1:c.68G>C, NM_001033604.2:c.68G>C, NM_001033604.1:c.68G>C, NR_145412.1:n.347G>C, NR_145411.1:n.347G>C, NM_001348036.1:c.68G>C, NM_001362679.1:c.68G>C, XM_011515270.4:c.68G>C, XM_011515270.3:c.68G>C, XM_011515270.2:c.68G>C, XM_011515270.1:c.68G>C, XM_005249701.4:c.68G>C, XM_005249701.3:c.68G>C, XM_005249701.2:c.68G>C, XM_005249701.1:c.68G>C, XM_011515266.4:c.68G>C, XM_011515266.3:c.68G>C, XM_011515266.2:c.68G>C, XM_011515266.1:c.68G>C, XM_011515267.4:c.68G>C, XM_011515267.3:c.68G>C, XM_011515267.2:c.68G>C, XM_011515267.1:c.68G>C, XM_011515265.3:c.68G>C, XM_011515265.2:c.68G>C, XM_011515265.1:c.68G>C, XM_017011994.3:c.68G>C, XM_017011994.2:c.68G>C, XM_017011994.1:c.68G>C, XR_001744634.3:n.581G>C, XR_001744634.2:n.571G>C, XR_001744634.1:n.589G>C, XM_017011990.2:c.68G>C, XM_017011990.1:c.68G>C, XM_047420202.1:c.68G>C, XM_047420201.1:c.68G>C, XM_047420203.1:c.68G>C, XM_047420204.1:c.68G>C, NP_055266.2:p.Gly23Ala, NP_001334970.1:p.Gly23Ala, NP_940820.1:p.Gly23Ala, NP_001334972.1:p.Gly23Ala, NP_001334969.1:p.Gly23Ala, NP_001028777.1:p.Gly23Ala, NP_001028776.1:p.Gly23Ala, NP_001334965.1:p.Gly23Ala, NP_001349608.1:p.Gly23Ala, XP_011513572.1:p.Gly23Ala, XP_005249758.1:p.Gly23Ala, XP_011513568.1:p.Gly23Ala, XP_011513569.1:p.Gly23Ala, XP_011513567.1:p.Gly23Ala, XP_016867483.1:p.Gly23Ala, XP_016867479.1:p.Gly23Ala, XP_047276158.1:p.Gly23Ala, XP_047276157.1:p.Gly23Ala, XP_047276159.1:p.Gly23Ala, XP_047276160.1:p.Gly23Ala

                              15.

                              rs1468269486 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                7:33344626 (GRCh38)
                                7:33384238 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:33344625:A:G
                                Gene:
                                BBS9 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000007.14:g.33344626A>G, NC_000007.13:g.33384238A>G, NG_009306.2:g.220383A>G, NM_014451.4:c.1321A>G, NM_014451.3:c.1321A>G, NM_001348041.4:c.1321A>G, NM_001348041.3:c.1321A>G, NM_001348041.2:c.1321A>G, NM_001348041.1:c.1321A>G, NR_145413.3:n.1810A>G, NR_145413.2:n.1834A>G, NR_145413.1:n.2089A>G, NM_001348038.3:c.1048A>G, NM_001348038.2:c.1048A>G, NM_001348038.1:c.1048A>G, NM_198428.3:c.1321A>G, NM_198428.2:c.1321A>G, NM_001348043.3:c.1321A>G, NM_001348043.2:c.1321A>G, NM_001348043.1:c.1321A>G, NM_001348039.3:c.1048A>G, NM_001348039.2:c.1048A>G, NM_001348039.1:c.1048A>G, NM_001348042.3:c.1186A>G, NM_001348042.2:c.1186A>G, NM_001348042.1:c.1186A>G, NM_001348040.3:c.1321A>G, NM_001348040.2:c.1321A>G, NM_001348040.1:c.1321A>G, NM_001348045.3:c.955A>G, NM_001348045.2:c.955A>G, NM_001348045.1:c.955A>G, NM_001348037.3:c.955A>G, NM_001348037.2:c.955A>G, NM_001348037.1:c.955A>G, NM_001348046.3:c.955A>G, NM_001348046.2:c.955A>G, NM_001348046.1:c.955A>G, NM_001348044.3:c.955A>G, NM_001348044.2:c.955A>G, NM_001348044.1:c.955A>G, NM_001033605.2:c.1321A>G, NM_001033605.1:c.1321A>G, NM_001033604.2:c.1321A>G, NM_001033604.1:c.1321A>G, NR_145412.1:n.1600A>G, NR_145411.1:n.1600A>G, NM_001348036.1:c.1321A>G, NM_001362679.1:c.1321A>G, XM_011515270.4:c.1321A>G, XM_011515270.3:c.1321A>G, XM_011515270.2:c.1321A>G, XM_011515270.1:c.1321A>G, XM_005249701.4:c.1321A>G, XM_005249701.3:c.1321A>G, XM_005249701.2:c.1321A>G, XM_005249701.1:c.1321A>G, XM_011515266.4:c.1321A>G, XM_011515266.3:c.1321A>G, XM_011515266.2:c.1321A>G, XM_011515266.1:c.1321A>G, XM_011515267.4:c.1321A>G, XM_011515267.3:c.1321A>G, XM_011515267.2:c.1321A>G, XM_011515267.1:c.1321A>G, XM_011515265.3:c.1321A>G, XM_011515265.2:c.1321A>G, XM_011515265.1:c.1321A>G, XM_011515269.3:c.1048A>G, XM_011515269.2:c.1048A>G, XM_011515269.1:c.1048A>G, XM_017011994.3:c.1321A>G, XM_017011994.2:c.1321A>G, XM_017011994.1:c.1321A>G, XR_001744634.3:n.1834A>G, XR_001744634.2:n.1824A>G, XR_001744634.1:n.1842A>G, XM_017011990.2:c.1321A>G, XM_017011990.1:c.1321A>G, XM_047420202.1:c.1321A>G, XM_047420201.1:c.1321A>G, XM_047420203.1:c.1321A>G, XM_047420204.1:c.1321A>G, NP_055266.2:p.Thr441Ala, NP_001334970.1:p.Thr441Ala, NP_001334967.1:p.Thr350Ala, NP_940820.1:p.Thr441Ala, NP_001334972.1:p.Thr441Ala, NP_001334968.1:p.Thr350Ala, NP_001334971.1:p.Thr396Ala, NP_001334969.1:p.Thr441Ala, NP_001334974.1:p.Thr319Ala, NP_001334966.1:p.Thr319Ala, NP_001334975.1:p.Thr319Ala, NP_001334973.1:p.Thr319Ala, NP_001028777.1:p.Thr441Ala, NP_001028776.1:p.Thr441Ala, NP_001334965.1:p.Thr441Ala, NP_001349608.1:p.Thr441Ala, XP_011513572.1:p.Thr441Ala, XP_005249758.1:p.Thr441Ala, XP_011513568.1:p.Thr441Ala, XP_011513569.1:p.Thr441Ala, XP_011513567.1:p.Thr441Ala, XP_011513571.1:p.Thr350Ala, XP_016867483.1:p.Thr441Ala, XP_016867479.1:p.Thr441Ala, XP_047276158.1:p.Thr441Ala, XP_047276157.1:p.Thr441Ala, XP_047276159.1:p.Thr441Ala, XP_047276160.1:p.Thr441Ala

                                16.

                                rs1467787080 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  7:33505495 (GRCh38)
                                  7:33545107 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:33505494:C:A
                                  Gene:
                                  BBS9 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000007.14:g.33505495C>A, NC_000007.13:g.33545107C>A, NG_009306.2:g.381252C>A, NM_014451.4:c.2028C>A, NM_014451.3:c.2028C>A, NM_001348041.4:c.2148C>A, NM_001348041.3:c.2148C>A, NM_001348041.2:c.2148C>A, NM_001348041.1:c.2148C>A, NR_145413.3:n.2781C>A, NR_145413.2:n.2805C>A, NR_145413.1:n.3060C>A, NM_001348038.3:c.1875C>A, NM_001348038.2:c.1875C>A, NM_001348038.1:c.1875C>A, NM_198428.3:c.2148C>A, NM_198428.2:c.2148C>A, NM_001348043.3:c.2148C>A, NM_001348043.2:c.2148C>A, NM_001348043.1:c.2148C>A, NM_001348039.3:c.1770C>A, NM_001348039.2:c.1770C>A, NM_001348039.1:c.1770C>A, NM_001348042.3:c.2013C>A, NM_001348042.2:c.2013C>A, NM_001348042.1:c.2013C>A, NM_001348040.3:c.2028C>A, NM_001348040.2:c.2028C>A, NM_001348040.1:c.2028C>A, NM_001348045.3:c.1782C>A, NM_001348045.2:c.1782C>A, NM_001348045.1:c.1782C>A, NM_001348046.3:c.1782C>A, NM_001348046.2:c.1782C>A, NM_001348046.1:c.1782C>A, NM_001348044.3:c.1677C>A, NM_001348044.2:c.1677C>A, NM_001348044.1:c.1677C>A, NM_001033605.2:c.2133C>A, NM_001033605.1:c.2133C>A, NM_001033604.2:c.2043C>A, NM_001033604.1:c.2043C>A, NR_145412.1:n.2619C>A, NR_145411.1:n.2427C>A, NM_001348036.1:c.2148C>A, NM_001362679.1:c.2148C>A, XM_011515266.4:c.2133C>A, XM_011515266.3:c.2133C>A, XM_011515266.2:c.2133C>A, XM_011515266.1:c.2133C>A, XM_011515267.4:c.2043C>A, XM_011515267.3:c.2043C>A, XM_011515267.2:c.2043C>A, XM_011515267.1:c.2043C>A, XM_011515265.3:c.2148C>A, XM_011515265.2:c.2148C>A, XM_011515265.1:c.2148C>A, XM_011515269.3:c.1875C>A, XM_011515269.2:c.1875C>A, XM_011515269.1:c.1875C>A, XM_017011990.2:c.2133C>A, XM_017011990.1:c.2133C>A, XM_047420202.1:c.2133C>A, XM_047420201.1:c.2133C>A, XM_047420203.1:c.2133C>A, XM_047420204.1:c.2148C>A, NP_055266.2:p.Asn676Lys, NP_001334970.1:p.Asn716Lys, NP_001334967.1:p.Asn625Lys, NP_940820.1:p.Asn716Lys, NP_001334972.1:p.Asn716Lys, NP_001334968.1:p.Asn590Lys, NP_001334971.1:p.Asn671Lys, NP_001334969.1:p.Asn676Lys, NP_001334974.1:p.Asn594Lys, NP_001334975.1:p.Asn594Lys, NP_001334973.1:p.Asn559Lys, NP_001028777.1:p.Asn711Lys, NP_001028776.1:p.Asn681Lys, NP_001334965.1:p.Asn716Lys, NP_001349608.1:p.Asn716Lys, XP_011513568.1:p.Asn711Lys, XP_011513569.1:p.Asn681Lys, XP_011513567.1:p.Asn716Lys, XP_011513571.1:p.Asn625Lys, XP_016867479.1:p.Asn711Lys, XP_047276158.1:p.Asn711Lys, XP_047276157.1:p.Asn711Lys, XP_047276159.1:p.Asn711Lys, XP_047276160.1:p.Asn716Lys

                                  17.

                                  rs1466761703 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    7:33257361 (GRCh38)
                                    7:33296973 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:33257360:A:G
                                    Gene:
                                    BBS9 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000011/3 (TOPMED)
                                    HGVS:
                                    NC_000007.14:g.33257361A>G, NC_000007.13:g.33296973A>G, NG_009306.2:g.133118A>G, NM_014451.4:c.568A>G, NM_014451.3:c.568A>G, NM_001348041.4:c.568A>G, NM_001348041.3:c.568A>G, NM_001348041.2:c.568A>G, NM_001348041.1:c.568A>G, NR_145413.3:n.1057A>G, NR_145413.2:n.1081A>G, NR_145413.1:n.1336A>G, NM_001348038.3:c.295A>G, NM_001348038.2:c.295A>G, NM_001348038.1:c.295A>G, NM_198428.3:c.568A>G, NM_198428.2:c.568A>G, NM_001348043.3:c.568A>G, NM_001348043.2:c.568A>G, NM_001348043.1:c.568A>G, NM_001348039.3:c.295A>G, NM_001348039.2:c.295A>G, NM_001348039.1:c.295A>G, NM_001348042.3:c.433A>G, NM_001348042.2:c.433A>G, NM_001348042.1:c.433A>G, NM_001348040.3:c.568A>G, NM_001348040.2:c.568A>G, NM_001348040.1:c.568A>G, NM_001348045.3:c.202A>G, NM_001348045.2:c.202A>G, NM_001348045.1:c.202A>G, NM_001348037.3:c.202A>G, NM_001348037.2:c.202A>G, NM_001348037.1:c.202A>G, NM_001348046.3:c.202A>G, NM_001348046.2:c.202A>G, NM_001348046.1:c.202A>G, NM_001348044.3:c.202A>G, NM_001348044.2:c.202A>G, NM_001348044.1:c.202A>G, NM_001033605.2:c.568A>G, NM_001033605.1:c.568A>G, NM_001033604.2:c.568A>G, NM_001033604.1:c.568A>G, NR_145412.1:n.847A>G, NR_145411.1:n.847A>G, NM_001348036.1:c.568A>G, NM_001362679.1:c.568A>G, XM_011515270.4:c.568A>G, XM_011515270.3:c.568A>G, XM_011515270.2:c.568A>G, XM_011515270.1:c.568A>G, XM_005249701.4:c.568A>G, XM_005249701.3:c.568A>G, XM_005249701.2:c.568A>G, XM_005249701.1:c.568A>G, XM_011515266.4:c.568A>G, XM_011515266.3:c.568A>G, XM_011515266.2:c.568A>G, XM_011515266.1:c.568A>G, XM_011515267.4:c.568A>G, XM_011515267.3:c.568A>G, XM_011515267.2:c.568A>G, XM_011515267.1:c.568A>G, XM_011515265.3:c.568A>G, XM_011515265.2:c.568A>G, XM_011515265.1:c.568A>G, XM_011515269.3:c.295A>G, XM_011515269.2:c.295A>G, XM_011515269.1:c.295A>G, XM_017011994.3:c.568A>G, XM_017011994.2:c.568A>G, XM_017011994.1:c.568A>G, XR_001744634.3:n.1081A>G, XR_001744634.2:n.1071A>G, XR_001744634.1:n.1089A>G, XM_017011990.2:c.568A>G, XM_017011990.1:c.568A>G, XM_047420202.1:c.568A>G, XM_047420201.1:c.568A>G, XM_047420203.1:c.568A>G, XM_047420204.1:c.568A>G, NP_055266.2:p.Thr190Ala, NP_001334970.1:p.Thr190Ala, NP_001334967.1:p.Thr99Ala, NP_940820.1:p.Thr190Ala, NP_001334972.1:p.Thr190Ala, NP_001334968.1:p.Thr99Ala, NP_001334971.1:p.Thr145Ala, NP_001334969.1:p.Thr190Ala, NP_001334974.1:p.Thr68Ala, NP_001334966.1:p.Thr68Ala, NP_001334975.1:p.Thr68Ala, NP_001334973.1:p.Thr68Ala, NP_001028777.1:p.Thr190Ala, NP_001028776.1:p.Thr190Ala, NP_001334965.1:p.Thr190Ala, NP_001349608.1:p.Thr190Ala, XP_011513572.1:p.Thr190Ala, XP_005249758.1:p.Thr190Ala, XP_011513568.1:p.Thr190Ala, XP_011513569.1:p.Thr190Ala, XP_011513567.1:p.Thr190Ala, XP_011513571.1:p.Thr99Ala, XP_016867483.1:p.Thr190Ala, XP_016867479.1:p.Thr190Ala, XP_047276158.1:p.Thr190Ala, XP_047276157.1:p.Thr190Ala, XP_047276159.1:p.Thr190Ala, XP_047276160.1:p.Thr190Ala

                                    18.

                                    rs1465870723 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      7:33534097 (GRCh38)
                                      7:33573709 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:33534096:G:A
                                      Gene:
                                      BBS9 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000007.14:g.33534097G>A, NC_000007.13:g.33573709G>A, NG_009306.2:g.409854G>A, NM_014451.4:c.2322G>A, NM_014451.3:c.2322G>A, NM_001348041.4:c.2442G>A, NM_001348041.3:c.2442G>A, NM_001348041.2:c.2442G>A, NM_001348041.1:c.2442G>A, NR_145413.3:n.3075G>A, NR_145413.2:n.3099G>A, NR_145413.1:n.3354G>A, NM_001348038.3:c.2169G>A, NM_001348038.2:c.2169G>A, NM_001348038.1:c.2169G>A, NM_198428.3:c.2442G>A, NM_198428.2:c.2442G>A, NM_001348043.3:c.2442G>A, NM_001348043.2:c.2442G>A, NM_001348043.1:c.2442G>A, NM_001348039.3:c.2064G>A, NM_001348039.2:c.2064G>A, NM_001348039.1:c.2064G>A, NM_001348042.3:c.2307G>A, NM_001348042.2:c.2307G>A, NM_001348042.1:c.2307G>A, NM_001348040.3:c.2322G>A, NM_001348040.2:c.2322G>A, NM_001348040.1:c.2322G>A, NM_001348045.3:c.2076G>A, NM_001348045.2:c.2076G>A, NM_001348045.1:c.2076G>A, NM_001348037.3:c.1893G>A, NM_001348037.2:c.1893G>A, NM_001348037.1:c.1893G>A, NM_001348046.3:c.2076G>A, NM_001348046.2:c.2076G>A, NM_001348046.1:c.2076G>A, NM_001348044.3:c.1971G>A, NM_001348044.2:c.1971G>A, NM_001348044.1:c.1971G>A, NM_001033605.2:c.2427G>A, NM_001033605.1:c.2427G>A, NM_001033604.2:c.2337G>A, NM_001033604.1:c.2337G>A, NR_145412.1:n.2913G>A, NR_145411.1:n.2721G>A, NM_001348036.1:c.2442G>A, NM_001362679.1:c.2442G>A, XM_011515266.4:c.2427G>A, XM_011515266.3:c.2427G>A, XM_011515266.2:c.2427G>A, XM_011515266.1:c.2427G>A, XM_011515267.4:c.2337G>A, XM_011515267.3:c.2337G>A, XM_011515267.2:c.2337G>A, XM_011515267.1:c.2337G>A, XM_011515265.3:c.2442G>A, XM_011515265.2:c.2442G>A, XM_011515265.1:c.2442G>A, XM_011515269.3:c.2169G>A, XM_011515269.2:c.2169G>A, XM_011515269.1:c.2169G>A, XM_017011990.2:c.2427G>A, XM_017011990.1:c.2427G>A, XM_047420202.1:c.2427G>A, XM_047420201.1:c.2427G>A, XM_047420203.1:c.2427G>A, XM_047420204.1:c.2442G>A

                                      19.

                                      rs1465497304 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        7:33344593 (GRCh38)
                                        7:33384205 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:33344592:G:A
                                        Gene:
                                        BBS9 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000007.14:g.33344593G>A, NC_000007.13:g.33384205G>A, NG_009306.2:g.220350G>A, NM_014451.4:c.1288G>A, NM_014451.3:c.1288G>A, NM_001348041.4:c.1288G>A, NM_001348041.3:c.1288G>A, NM_001348041.2:c.1288G>A, NM_001348041.1:c.1288G>A, NR_145413.3:n.1777G>A, NR_145413.2:n.1801G>A, NR_145413.1:n.2056G>A, NM_001348038.3:c.1015G>A, NM_001348038.2:c.1015G>A, NM_001348038.1:c.1015G>A, NM_198428.3:c.1288G>A, NM_198428.2:c.1288G>A, NM_001348043.3:c.1288G>A, NM_001348043.2:c.1288G>A, NM_001348043.1:c.1288G>A, NM_001348039.3:c.1015G>A, NM_001348039.2:c.1015G>A, NM_001348039.1:c.1015G>A, NM_001348042.3:c.1153G>A, NM_001348042.2:c.1153G>A, NM_001348042.1:c.1153G>A, NM_001348040.3:c.1288G>A, NM_001348040.2:c.1288G>A, NM_001348040.1:c.1288G>A, NM_001348045.3:c.922G>A, NM_001348045.2:c.922G>A, NM_001348045.1:c.922G>A, NM_001348037.3:c.922G>A, NM_001348037.2:c.922G>A, NM_001348037.1:c.922G>A, NM_001348046.3:c.922G>A, NM_001348046.2:c.922G>A, NM_001348046.1:c.922G>A, NM_001348044.3:c.922G>A, NM_001348044.2:c.922G>A, NM_001348044.1:c.922G>A, NM_001033605.2:c.1288G>A, NM_001033605.1:c.1288G>A, NM_001033604.2:c.1288G>A, NM_001033604.1:c.1288G>A, NR_145412.1:n.1567G>A, NR_145411.1:n.1567G>A, NM_001348036.1:c.1288G>A, NM_001362679.1:c.1288G>A, XM_011515270.4:c.1288G>A, XM_011515270.3:c.1288G>A, XM_011515270.2:c.1288G>A, XM_011515270.1:c.1288G>A, XM_005249701.4:c.1288G>A, XM_005249701.3:c.1288G>A, XM_005249701.2:c.1288G>A, XM_005249701.1:c.1288G>A, XM_011515266.4:c.1288G>A, XM_011515266.3:c.1288G>A, XM_011515266.2:c.1288G>A, XM_011515266.1:c.1288G>A, XM_011515267.4:c.1288G>A, XM_011515267.3:c.1288G>A, XM_011515267.2:c.1288G>A, XM_011515267.1:c.1288G>A, XM_011515265.3:c.1288G>A, XM_011515265.2:c.1288G>A, XM_011515265.1:c.1288G>A, XM_011515269.3:c.1015G>A, XM_011515269.2:c.1015G>A, XM_011515269.1:c.1015G>A, XM_017011994.3:c.1288G>A, XM_017011994.2:c.1288G>A, XM_017011994.1:c.1288G>A, XR_001744634.3:n.1801G>A, XR_001744634.2:n.1791G>A, XR_001744634.1:n.1809G>A, XM_017011990.2:c.1288G>A, XM_017011990.1:c.1288G>A, XM_047420202.1:c.1288G>A, XM_047420201.1:c.1288G>A, XM_047420203.1:c.1288G>A, XM_047420204.1:c.1288G>A, NP_055266.2:p.Val430Ile, NP_001334970.1:p.Val430Ile, NP_001334967.1:p.Val339Ile, NP_940820.1:p.Val430Ile, NP_001334972.1:p.Val430Ile, NP_001334968.1:p.Val339Ile, NP_001334971.1:p.Val385Ile, NP_001334969.1:p.Val430Ile, NP_001334974.1:p.Val308Ile, NP_001334966.1:p.Val308Ile, NP_001334975.1:p.Val308Ile, NP_001334973.1:p.Val308Ile, NP_001028777.1:p.Val430Ile, NP_001028776.1:p.Val430Ile, NP_001334965.1:p.Val430Ile, NP_001349608.1:p.Val430Ile, XP_011513572.1:p.Val430Ile, XP_005249758.1:p.Val430Ile, XP_011513568.1:p.Val430Ile, XP_011513569.1:p.Val430Ile, XP_011513567.1:p.Val430Ile, XP_011513571.1:p.Val339Ile, XP_016867483.1:p.Val430Ile, XP_016867479.1:p.Val430Ile, XP_047276158.1:p.Val430Ile, XP_047276157.1:p.Val430Ile, XP_047276159.1:p.Val430Ile, XP_047276160.1:p.Val430Ile

                                        20.

                                        rs1462715709 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          7:33388060 (GRCh38)
                                          7:33427672 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:33388059:A:G
                                          Gene:
                                          BBS9 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000007.14:g.33388060A>G, NC_000007.13:g.33427672A>G, NG_009306.2:g.263817A>G, NM_014451.4:c.1911A>G, NM_014451.3:c.1911A>G, NM_001348041.4:c.2031A>G, NM_001348041.3:c.2031A>G, NM_001348041.2:c.2031A>G, NM_001348041.1:c.2031A>G, NR_145413.3:n.2664A>G, NR_145413.2:n.2688A>G, NR_145413.1:n.2943A>G, NM_001348038.3:c.1758A>G, NM_001348038.2:c.1758A>G, NM_001348038.1:c.1758A>G, NM_198428.3:c.2031A>G, NM_198428.2:c.2031A>G, NM_001348043.3:c.2031A>G, NM_001348043.2:c.2031A>G, NM_001348043.1:c.2031A>G, NM_001348039.3:c.1653A>G, NM_001348039.2:c.1653A>G, NM_001348039.1:c.1653A>G, NM_001348042.3:c.1896A>G, NM_001348042.2:c.1896A>G, NM_001348042.1:c.1896A>G, NM_001348040.3:c.1911A>G, NM_001348040.2:c.1911A>G, NM_001348040.1:c.1911A>G, NM_001348045.3:c.1665A>G, NM_001348045.2:c.1665A>G, NM_001348045.1:c.1665A>G, NM_001348037.3:c.1665A>G, NM_001348037.2:c.1665A>G, NM_001348037.1:c.1665A>G, NM_001348046.3:c.1665A>G, NM_001348046.2:c.1665A>G, NM_001348046.1:c.1665A>G, NM_001348044.3:c.1560A>G, NM_001348044.2:c.1560A>G, NM_001348044.1:c.1560A>G, NM_001033605.2:c.2016A>G, NM_001033605.1:c.2016A>G, NM_001033604.2:c.1926A>G, NM_001033604.1:c.1926A>G, NR_145412.1:n.2502A>G, NR_145411.1:n.2310A>G, NM_001348036.1:c.2031A>G, NM_001362679.1:c.2031A>G, XM_011515270.4:c.2031A>G, XM_011515270.3:c.2031A>G, XM_011515270.2:c.2031A>G, XM_011515270.1:c.2031A>G, XM_005249701.4:c.2031A>G, XM_005249701.3:c.2031A>G, XM_005249701.2:c.2031A>G, XM_005249701.1:c.2031A>G, XM_011515266.4:c.2016A>G, XM_011515266.3:c.2016A>G, XM_011515266.2:c.2016A>G, XM_011515266.1:c.2016A>G, XM_011515267.4:c.1926A>G, XM_011515267.3:c.1926A>G, XM_011515267.2:c.1926A>G, XM_011515267.1:c.1926A>G, XM_011515265.3:c.2031A>G, XM_011515265.2:c.2031A>G, XM_011515265.1:c.2031A>G, XM_011515269.3:c.1758A>G, XM_011515269.2:c.1758A>G, XM_011515269.1:c.1758A>G, XM_017011990.2:c.2016A>G, XM_017011990.1:c.2016A>G, XM_047420202.1:c.2016A>G, XM_047420201.1:c.2016A>G, XM_047420203.1:c.2016A>G, XM_047420204.1:c.2031A>G

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