U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 722

1.

rs1489061523 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    13:20597101 (GRCh38)
    13:21171240 (GRCh37)
    Canonical SPDI:
    NC_000013.11:20597100:T:C
    Gene:
    IFT88 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant
    HGVS:
    NC_000013.11:g.20597101T>C, NC_000013.10:g.21171240T>C, NM_175605.5:c.603T>C, NM_175605.4:c.603T>C, NM_175605.3:c.603T>C, NM_006531.5:c.576T>C, NM_006531.4:c.576T>C, NM_006531.3:c.576T>C, XM_006719870.4:c.576T>C, XM_006719870.3:c.576T>C, XM_006719870.2:c.576T>C, XM_006719870.1:c.576T>C, NR_134653.2:n.1010T>C, NR_134653.1:n.1351T>C, NR_148462.2:n.911T>C, NR_148462.1:n.1252T>C, NR_148463.2:n.845T>C, NR_148463.1:n.1186T>C, NM_001353568.2:c.576T>C, NM_001353568.1:c.576T>C, XM_017020763.2:c.603T>C, XM_017020763.1:c.603T>C, XM_017020757.2:c.576T>C, XM_017020757.1:c.576T>C, NM_001318493.2:c.603T>C, NM_001318493.1:c.603T>C, NM_001353566.2:c.603T>C, NM_001353566.1:c.603T>C, XM_017020762.2:c.603T>C, XM_017020762.1:c.603T>C, XM_024449413.2:c.546T>C, XM_024449413.1:c.546T>C, NM_001353570.2:c.603T>C, NM_001353570.1:c.603T>C, NR_148464.2:n.682T>C, NR_148464.1:n.1023T>C, XM_024449415.2:c.603T>C, XM_024449415.1:c.603T>C, NM_001353565.2:c.603T>C, NM_001353565.1:c.603T>C, NM_001353567.2:c.603T>C, NM_001353567.1:c.603T>C, NM_001353576.2:c.603T>C, NM_001353576.1:c.603T>C, NM_001353569.2:c.603T>C, NM_001353569.1:c.603T>C, NM_001353577.2:c.603T>C, NM_001353577.1:c.603T>C, NM_001353575.2:c.519T>C, NM_001353575.1:c.519T>C, NM_001318491.2:c.519T>C, NM_001318491.1:c.519T>C, NM_001353579.2:c.-58T>C, NM_001353579.1:c.-58T>C, NM_001353571.2:c.576T>C, NM_001353571.1:c.576T>C, NM_001353572.2:c.576T>C, NM_001353572.1:c.576T>C, NM_001353573.2:c.519T>C, NM_001353573.1:c.519T>C, NM_001353574.2:c.519T>C, NM_001353574.1:c.519T>C, NM_001353578.2:c.576T>C, NM_001353578.1:c.576T>C, NR_148465.2:n.625T>C, NR_148465.1:n.966T>C, XM_017020775.2:c.603T>C, XM_017020775.1:c.603T>C, XM_017020776.2:c.603T>C, XM_017020776.1:c.603T>C, XM_047430655.1:c.576T>C, XM_047430656.1:c.546T>C, XM_047430660.1:c.603T>C, XM_047430661.1:c.603T>C, XM_047430667.1:c.546T>C, XM_047430657.1:c.546T>C, XM_047430670.1:c.603T>C, XM_047430671.1:c.603T>C, XM_047430659.1:c.603T>C, XM_047430662.1:c.603T>C, XM_047430669.1:c.546T>C, XM_047430668.1:c.546T>C, XM_047430658.1:c.519T>C, XM_047430663.1:c.576T>C, XM_047430665.1:c.576T>C, XM_047430666.1:c.576T>C, XM_047430664.1:c.603T>C, XM_047430672.1:c.519T>C, XM_047430673.1:c.576T>C, XM_047430674.1:c.576T>C, XM_047430677.1:c.576T>C, XM_047430675.1:c.519T>C, XM_047430676.1:c.603T>C, XR_007063700.1:n.1010T>C, XM_047430679.1:c.603T>C, XM_047430678.1:c.576T>C

    2.

    rs1488685318 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      13:20590970 (GRCh38)
      13:21165109 (GRCh37)
      Canonical SPDI:
      NC_000013.11:20590969:A:G
      Gene:
      IFT88 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      HGVS:
      NC_000013.11:g.20590970A>G, NC_000013.10:g.21165109A>G, NM_175605.5:c.241A>G, NM_175605.4:c.241A>G, NM_175605.3:c.241A>G, NM_006531.5:c.214A>G, NM_006531.4:c.214A>G, NM_006531.3:c.214A>G, XM_006719870.4:c.214A>G, XM_006719870.3:c.214A>G, XM_006719870.2:c.214A>G, XM_006719870.1:c.214A>G, NR_134653.2:n.648A>G, NR_134653.1:n.989A>G, NR_148462.2:n.549A>G, NR_148462.1:n.890A>G, NR_148463.2:n.483A>G, NR_148463.1:n.824A>G, NM_001353568.2:c.214A>G, NM_001353568.1:c.214A>G, XM_017020763.2:c.241A>G, XM_017020763.1:c.241A>G, XM_017020757.2:c.214A>G, XM_017020757.1:c.214A>G, NM_001318493.2:c.241A>G, NM_001318493.1:c.241A>G, NM_001353566.2:c.241A>G, NM_001353566.1:c.241A>G, XM_017020762.2:c.241A>G, XM_017020762.1:c.241A>G, XM_024449413.2:c.184A>G, XM_024449413.1:c.184A>G, NM_001353570.2:c.241A>G, NM_001353570.1:c.241A>G, NR_148464.2:n.320A>G, NR_148464.1:n.661A>G, XM_024449415.2:c.241A>G, XM_024449415.1:c.241A>G, NM_001353565.2:c.241A>G, NM_001353565.1:c.241A>G, NM_001353567.2:c.241A>G, NM_001353567.1:c.241A>G, NM_001353576.2:c.241A>G, NM_001353576.1:c.241A>G, NM_001353569.2:c.241A>G, NM_001353569.1:c.241A>G, NM_001353577.2:c.241A>G, NM_001353577.1:c.241A>G, NM_001353575.2:c.157A>G, NM_001353575.1:c.157A>G, NM_001318491.2:c.157A>G, NM_001318491.1:c.157A>G, NM_001353579.2:c.-350A>G, NM_001353579.1:c.-350A>G, NM_001353571.2:c.214A>G, NM_001353571.1:c.214A>G, NM_001353572.2:c.214A>G, NM_001353572.1:c.214A>G, NM_001353573.2:c.157A>G, NM_001353573.1:c.157A>G, NM_001353574.2:c.157A>G, NM_001353574.1:c.157A>G, NM_001353578.2:c.214A>G, NM_001353578.1:c.214A>G, NR_148465.2:n.263A>G, NR_148465.1:n.604A>G, XM_017020775.2:c.241A>G, XM_017020775.1:c.241A>G, XM_017020776.2:c.241A>G, XM_017020776.1:c.241A>G, XM_047430655.1:c.214A>G, XM_047430656.1:c.184A>G, XM_047430660.1:c.241A>G, XM_047430661.1:c.241A>G, XM_047430667.1:c.184A>G, XM_047430657.1:c.184A>G, XM_047430670.1:c.241A>G, XM_047430671.1:c.241A>G, XM_047430659.1:c.241A>G, XM_047430662.1:c.241A>G, XM_047430669.1:c.184A>G, XM_047430668.1:c.184A>G, XM_047430658.1:c.157A>G, XM_047430663.1:c.214A>G, XM_047430665.1:c.214A>G, XM_047430666.1:c.214A>G, XM_047430664.1:c.241A>G, XM_047430672.1:c.157A>G, XM_047430673.1:c.214A>G, XM_047430674.1:c.214A>G, XM_047430677.1:c.214A>G, XM_047430675.1:c.157A>G, XM_047430676.1:c.241A>G, XR_007063700.1:n.648A>G, XM_047430679.1:c.241A>G, XM_047430678.1:c.214A>G, NP_783195.2:p.Lys81Glu, NP_006522.2:p.Lys72Glu, XP_006719933.1:p.Lys72Glu, NP_001340497.1:p.Lys72Glu, XP_016876252.1:p.Lys81Glu, XP_016876246.1:p.Lys72Glu, NP_001305422.1:p.Lys81Glu, NP_001340495.1:p.Lys81Glu, XP_016876251.1:p.Lys81Glu, XP_024305181.1:p.Lys62Glu, NP_001340499.1:p.Lys81Glu, XP_024305183.1:p.Lys81Glu, NP_001340494.1:p.Lys81Glu, NP_001340496.1:p.Lys81Glu, NP_001340505.1:p.Lys81Glu, NP_001340498.1:p.Lys81Glu, NP_001340506.1:p.Lys81Glu, NP_001340504.1:p.Lys53Glu, NP_001305420.1:p.Lys53Glu, NP_001340500.1:p.Lys72Glu, NP_001340501.1:p.Lys72Glu, NP_001340502.1:p.Lys53Glu, NP_001340503.1:p.Lys53Glu, NP_001340507.1:p.Lys72Glu, XP_016876264.1:p.Lys81Glu, XP_016876265.1:p.Lys81Glu, XP_047286611.1:p.Lys72Glu, XP_047286612.1:p.Lys62Glu, XP_047286616.1:p.Lys81Glu, XP_047286617.1:p.Lys81Glu, XP_047286623.1:p.Lys62Glu, XP_047286613.1:p.Lys62Glu, XP_047286626.1:p.Lys81Glu, XP_047286627.1:p.Lys81Glu, XP_047286615.1:p.Lys81Glu, XP_047286618.1:p.Lys81Glu, XP_047286625.1:p.Lys62Glu, XP_047286624.1:p.Lys62Glu, XP_047286614.1:p.Lys53Glu, XP_047286619.1:p.Lys72Glu, XP_047286621.1:p.Lys72Glu, XP_047286622.1:p.Lys72Glu, XP_047286620.1:p.Lys81Glu, XP_047286628.1:p.Lys53Glu, XP_047286629.1:p.Lys72Glu, XP_047286630.1:p.Lys72Glu, XP_047286633.1:p.Lys72Glu, XP_047286631.1:p.Lys53Glu, XP_047286632.1:p.Lys81Glu, XP_047286635.1:p.Lys81Glu, XP_047286634.1:p.Lys72Glu

      3.

      rs1488079626 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        13:20599473 (GRCh38)
        13:21173612 (GRCh37)
        Canonical SPDI:
        NC_000013.11:20599472:A:G
        Gene:
        IFT88 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
        Clinical significance:
        likely-benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000011/3 (TOPMED)
        G=0.000029/4 (GnomAD)
        HGVS:
        NC_000013.11:g.20599473A>G, NC_000013.10:g.21173612A>G, NM_175605.5:c.747A>G, NM_175605.4:c.747A>G, NM_175605.3:c.747A>G, NM_006531.5:c.720A>G, NM_006531.4:c.720A>G, NM_006531.3:c.720A>G, XM_006719870.4:c.720A>G, XM_006719870.3:c.720A>G, XM_006719870.2:c.720A>G, XM_006719870.1:c.720A>G, NR_134653.2:n.1154A>G, NR_134653.1:n.1495A>G, NR_148462.2:n.1055A>G, NR_148462.1:n.1396A>G, NR_148463.2:n.989A>G, NR_148463.1:n.1330A>G, NM_001353568.2:c.720A>G, NM_001353568.1:c.720A>G, XM_017020763.2:c.747A>G, XM_017020763.1:c.747A>G, XM_017020757.2:c.720A>G, XM_017020757.1:c.720A>G, NM_001318493.2:c.747A>G, NM_001318493.1:c.747A>G, NM_001353566.2:c.747A>G, NM_001353566.1:c.747A>G, XM_017020762.2:c.747A>G, XM_017020762.1:c.747A>G, XM_024449413.2:c.690A>G, XM_024449413.1:c.690A>G, NM_001353570.2:c.747A>G, NM_001353570.1:c.747A>G, NR_148464.2:n.826A>G, NR_148464.1:n.1167A>G, XM_024449415.2:c.747A>G, XM_024449415.1:c.747A>G, NM_001353565.2:c.747A>G, NM_001353565.1:c.747A>G, NM_001353567.2:c.747A>G, NM_001353567.1:c.747A>G, NM_001353576.2:c.747A>G, NM_001353576.1:c.747A>G, NM_001353569.2:c.747A>G, NM_001353569.1:c.747A>G, NM_001353577.2:c.747A>G, NM_001353577.1:c.747A>G, NM_001353575.2:c.663A>G, NM_001353575.1:c.663A>G, NM_001318491.2:c.663A>G, NM_001318491.1:c.663A>G, NM_001353579.2:c.87A>G, NM_001353579.1:c.87A>G, NM_001353571.2:c.720A>G, NM_001353571.1:c.720A>G, NM_001353572.2:c.720A>G, NM_001353572.1:c.720A>G, NM_001353573.2:c.663A>G, NM_001353573.1:c.663A>G, NM_001353574.2:c.663A>G, NM_001353574.1:c.663A>G, NM_001353578.2:c.720A>G, NM_001353578.1:c.720A>G, NR_148465.2:n.769A>G, NR_148465.1:n.1110A>G, XM_017020775.2:c.747A>G, XM_017020775.1:c.747A>G, XM_017020776.2:c.747A>G, XM_017020776.1:c.747A>G, XM_047430655.1:c.720A>G, XM_047430656.1:c.690A>G, XM_047430660.1:c.747A>G, XM_047430661.1:c.747A>G, XM_047430667.1:c.690A>G, XM_047430657.1:c.690A>G, XM_047430670.1:c.747A>G, XM_047430671.1:c.747A>G, XM_047430659.1:c.747A>G, XM_047430662.1:c.747A>G, XM_047430669.1:c.690A>G, XM_047430668.1:c.690A>G, XM_047430658.1:c.663A>G, XM_047430663.1:c.720A>G, XM_047430665.1:c.720A>G, XM_047430666.1:c.720A>G, XM_047430664.1:c.747A>G, XM_047430672.1:c.663A>G, XM_047430673.1:c.720A>G, XM_047430674.1:c.720A>G, XM_047430677.1:c.720A>G, XM_047430675.1:c.663A>G, XM_047430676.1:c.747A>G, XR_007063700.1:n.1154A>G, XM_047430679.1:c.747A>G, XM_047430678.1:c.720A>G

        4.

        rs1484408923 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          13:20598723 (GRCh38)
          13:21172862 (GRCh37)
          Canonical SPDI:
          NC_000013.11:20598722:A:G
          Gene:
          IFT88 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          NC_000013.11:g.20598723A>G, NC_000013.10:g.21172862A>G, NM_175605.5:c.694A>G, NM_175605.4:c.694A>G, NM_175605.3:c.694A>G, NM_006531.5:c.667A>G, NM_006531.4:c.667A>G, NM_006531.3:c.667A>G, XM_006719870.4:c.667A>G, XM_006719870.3:c.667A>G, XM_006719870.2:c.667A>G, XM_006719870.1:c.667A>G, NR_134653.2:n.1101A>G, NR_134653.1:n.1442A>G, NR_148462.2:n.1002A>G, NR_148462.1:n.1343A>G, NR_148463.2:n.936A>G, NR_148463.1:n.1277A>G, NM_001353568.2:c.667A>G, NM_001353568.1:c.667A>G, XM_017020763.2:c.694A>G, XM_017020763.1:c.694A>G, XM_017020757.2:c.667A>G, XM_017020757.1:c.667A>G, NM_001318493.2:c.694A>G, NM_001318493.1:c.694A>G, NM_001353566.2:c.694A>G, NM_001353566.1:c.694A>G, XM_017020762.2:c.694A>G, XM_017020762.1:c.694A>G, XM_024449413.2:c.637A>G, XM_024449413.1:c.637A>G, NM_001353570.2:c.694A>G, NM_001353570.1:c.694A>G, NR_148464.2:n.773A>G, NR_148464.1:n.1114A>G, XM_024449415.2:c.694A>G, XM_024449415.1:c.694A>G, NM_001353565.2:c.694A>G, NM_001353565.1:c.694A>G, NM_001353567.2:c.694A>G, NM_001353567.1:c.694A>G, NM_001353576.2:c.694A>G, NM_001353576.1:c.694A>G, NM_001353569.2:c.694A>G, NM_001353569.1:c.694A>G, NM_001353577.2:c.694A>G, NM_001353577.1:c.694A>G, NM_001353575.2:c.610A>G, NM_001353575.1:c.610A>G, NM_001318491.2:c.610A>G, NM_001318491.1:c.610A>G, NM_001353579.2:c.34A>G, NM_001353579.1:c.34A>G, NM_001353571.2:c.667A>G, NM_001353571.1:c.667A>G, NM_001353572.2:c.667A>G, NM_001353572.1:c.667A>G, NM_001353573.2:c.610A>G, NM_001353573.1:c.610A>G, NM_001353574.2:c.610A>G, NM_001353574.1:c.610A>G, NM_001353578.2:c.667A>G, NM_001353578.1:c.667A>G, NR_148465.2:n.716A>G, NR_148465.1:n.1057A>G, XM_017020775.2:c.694A>G, XM_017020775.1:c.694A>G, XM_017020776.2:c.694A>G, XM_017020776.1:c.694A>G, XM_047430655.1:c.667A>G, XM_047430656.1:c.637A>G, XM_047430660.1:c.694A>G, XM_047430661.1:c.694A>G, XM_047430667.1:c.637A>G, XM_047430657.1:c.637A>G, XM_047430670.1:c.694A>G, XM_047430671.1:c.694A>G, XM_047430659.1:c.694A>G, XM_047430662.1:c.694A>G, XM_047430669.1:c.637A>G, XM_047430668.1:c.637A>G, XM_047430658.1:c.610A>G, XM_047430663.1:c.667A>G, XM_047430665.1:c.667A>G, XM_047430666.1:c.667A>G, XM_047430664.1:c.694A>G, XM_047430672.1:c.610A>G, XM_047430673.1:c.667A>G, XM_047430674.1:c.667A>G, XM_047430677.1:c.667A>G, XM_047430675.1:c.610A>G, XM_047430676.1:c.694A>G, XR_007063700.1:n.1101A>G, XM_047430679.1:c.694A>G, XM_047430678.1:c.667A>G, NP_783195.2:p.Ile232Val, NP_006522.2:p.Ile223Val, XP_006719933.1:p.Ile223Val, NP_001340497.1:p.Ile223Val, XP_016876252.1:p.Ile232Val, XP_016876246.1:p.Ile223Val, NP_001305422.1:p.Ile232Val, NP_001340495.1:p.Ile232Val, XP_016876251.1:p.Ile232Val, XP_024305181.1:p.Ile213Val, NP_001340499.1:p.Ile232Val, XP_024305183.1:p.Ile232Val, NP_001340494.1:p.Ile232Val, NP_001340496.1:p.Ile232Val, NP_001340505.1:p.Ile232Val, NP_001340498.1:p.Ile232Val, NP_001340506.1:p.Ile232Val, NP_001340504.1:p.Ile204Val, NP_001305420.1:p.Ile204Val, NP_001340508.1:p.Ile12Val, NP_001340500.1:p.Ile223Val, NP_001340501.1:p.Ile223Val, NP_001340502.1:p.Ile204Val, NP_001340503.1:p.Ile204Val, NP_001340507.1:p.Ile223Val, XP_016876264.1:p.Ile232Val, XP_016876265.1:p.Ile232Val, XP_047286611.1:p.Ile223Val, XP_047286612.1:p.Ile213Val, XP_047286616.1:p.Ile232Val, XP_047286617.1:p.Ile232Val, XP_047286623.1:p.Ile213Val, XP_047286613.1:p.Ile213Val, XP_047286626.1:p.Ile232Val, XP_047286627.1:p.Ile232Val, XP_047286615.1:p.Ile232Val, XP_047286618.1:p.Ile232Val, XP_047286625.1:p.Ile213Val, XP_047286624.1:p.Ile213Val, XP_047286614.1:p.Ile204Val, XP_047286619.1:p.Ile223Val, XP_047286621.1:p.Ile223Val, XP_047286622.1:p.Ile223Val, XP_047286620.1:p.Ile232Val, XP_047286628.1:p.Ile204Val, XP_047286629.1:p.Ile223Val, XP_047286630.1:p.Ile223Val, XP_047286633.1:p.Ile223Val, XP_047286631.1:p.Ile204Val, XP_047286632.1:p.Ile232Val, XP_047286635.1:p.Ile232Val, XP_047286634.1:p.Ile223Val

          5.

          rs1484188686 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            13:20644890 (GRCh38)
            13:21219029 (GRCh37)
            Canonical SPDI:
            NC_000013.11:20644889:A:G
            Gene:
            IFT88 (Varview)
            Functional Consequence:
            intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency,by cluster
            MAF:
            G=0.0077/14 (Korea1K)
            HGVS:
            NC_000013.11:g.20644890A>G, NC_000013.10:g.21219029A>G, NM_175605.5:c.1908A>G, NM_175605.4:c.1908A>G, NM_175605.3:c.1908A>G, NM_006531.5:c.1881A>G, NM_006531.4:c.1881A>G, NM_006531.3:c.1881A>G, XM_006719870.4:c.1881A>G, XM_006719870.3:c.1881A>G, XM_006719870.2:c.1881A>G, XM_006719870.1:c.1881A>G, NR_134653.2:n.2315A>G, NR_134653.1:n.2656A>G, NR_148462.2:n.2216A>G, NR_148462.1:n.2557A>G, NR_148463.2:n.2248A>G, NR_148463.1:n.2589A>G, NM_001353568.2:c.1881A>G, NM_001353568.1:c.1881A>G, XM_017020763.2:c.1908A>G, XM_017020763.1:c.1908A>G, XM_017020757.2:c.1881A>G, XM_017020757.1:c.1881A>G, NM_001318493.2:c.1908A>G, NM_001318493.1:c.1908A>G, NM_001353566.2:c.1908A>G, NM_001353566.1:c.1908A>G, XM_017020762.2:c.1908A>G, XM_017020762.1:c.1908A>G, XM_024449413.2:c.1749A>G, XM_024449413.1:c.1749A>G, NM_001353570.2:c.1806A>G, NM_001353570.1:c.1806A>G, NR_148464.2:n.1987A>G, NR_148464.1:n.2328A>G, NM_001353565.2:c.1908A>G, NM_001353565.1:c.1908A>G, NM_001353567.2:c.1908A>G, NM_001353567.1:c.1908A>G, NM_001353576.2:c.1806A>G, NM_001353576.1:c.1806A>G, NM_001353569.2:c.1806A>G, NM_001353569.1:c.1806A>G, NM_001353577.2:c.1806A>G, NM_001353577.1:c.1806A>G, NM_001353575.2:c.1824A>G, NM_001353575.1:c.1824A>G, NM_001318491.2:c.1824A>G, NM_001318491.1:c.1824A>G, NM_001353579.2:c.1248A>G, NM_001353579.1:c.1248A>G, NM_001353571.2:c.1779A>G, NM_001353571.1:c.1779A>G, NM_001353572.2:c.1881A>G, NM_001353572.1:c.1881A>G, NM_001353573.2:c.1737A>G, NM_001353573.1:c.1737A>G, NM_001353574.2:c.1722A>G, NM_001353574.1:c.1722A>G, NM_001353578.2:c.1779A>G, NM_001353578.1:c.1779A>G, XM_047430655.1:c.1881A>G, XM_047430656.1:c.1851A>G, XM_047430660.1:c.1821A>G, XM_047430661.1:c.1806A>G, XM_047430667.1:c.1764A>G, XM_047430657.1:c.1851A>G, XM_047430670.1:c.1719A>G, XM_047430671.1:c.1719A>G, XM_047430659.1:c.1821A>G, XM_047430662.1:c.1908A>G, XM_047430669.1:c.1851A>G, XM_047430668.1:c.1749A>G, XM_047430658.1:c.1824A>G, XM_047430663.1:c.1794A>G, XM_047430665.1:c.1779A>G, XM_047430666.1:c.1881A>G, XM_047430664.1:c.1908A>G, XM_047430672.1:c.1824A>G, XM_047430673.1:c.1692A>G, XM_047430674.1:c.1794A>G, XM_047430675.1:c.1635A>G, XM_047430676.1:c.1908A>G

            6.

            rs1484155950 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              13:20638362 (GRCh38)
              13:21212501 (GRCh37)
              Canonical SPDI:
              NC_000013.11:20638361:G:A
              Gene:
              IFT88 (Varview)
              Functional Consequence:
              intron_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
              Validated:
              by frequency,by cluster
              MAF:
              A=0.00018/3 (TOMMO)
              HGVS:
              NC_000013.11:g.20638362G>A, NC_000013.10:g.21212501G>A, NM_175605.5:c.1444G>A, NM_175605.4:c.1444G>A, NM_175605.3:c.1444G>A, NM_006531.5:c.1417G>A, NM_006531.4:c.1417G>A, NM_006531.3:c.1417G>A, XM_006719870.4:c.1417G>A, XM_006719870.3:c.1417G>A, XM_006719870.2:c.1417G>A, XM_006719870.1:c.1417G>A, NR_134653.2:n.1851G>A, NR_134653.1:n.2192G>A, NR_148462.2:n.1752G>A, NR_148462.1:n.2093G>A, NR_148463.2:n.1784G>A, NR_148463.1:n.2125G>A, NM_001353568.2:c.1417G>A, NM_001353568.1:c.1417G>A, XM_017020763.2:c.1444G>A, XM_017020763.1:c.1444G>A, XM_017020757.2:c.1417G>A, XM_017020757.1:c.1417G>A, NM_001318493.2:c.1444G>A, NM_001318493.1:c.1444G>A, NM_001353566.2:c.1444G>A, NM_001353566.1:c.1444G>A, XM_017020762.2:c.1444G>A, XM_017020762.1:c.1444G>A, XM_024449413.2:c.1285G>A, XM_024449413.1:c.1285G>A, NM_001353570.2:c.1342G>A, NM_001353570.1:c.1342G>A, NR_148464.2:n.1523G>A, NR_148464.1:n.1864G>A, NM_001353565.2:c.1444G>A, NM_001353565.1:c.1444G>A, NM_001353567.2:c.1444G>A, NM_001353567.1:c.1444G>A, NM_001353576.2:c.1342G>A, NM_001353576.1:c.1342G>A, NM_001353569.2:c.1342G>A, NM_001353569.1:c.1342G>A, NM_001353577.2:c.1342G>A, NM_001353577.1:c.1342G>A, NM_001353575.2:c.1360G>A, NM_001353575.1:c.1360G>A, NM_001318491.2:c.1360G>A, NM_001318491.1:c.1360G>A, NM_001353579.2:c.784G>A, NM_001353579.1:c.784G>A, NM_001353571.2:c.1315G>A, NM_001353571.1:c.1315G>A, NM_001353572.2:c.1417G>A, NM_001353572.1:c.1417G>A, NM_001353573.2:c.1273G>A, NM_001353573.1:c.1273G>A, NM_001353574.2:c.1258G>A, NM_001353574.1:c.1258G>A, NM_001353578.2:c.1315G>A, NM_001353578.1:c.1315G>A, XM_017020775.2:c.*78G>A, XM_017020775.1:c.*78G>A, XM_047430655.1:c.1417G>A, XM_047430656.1:c.1387G>A, XM_047430660.1:c.1357G>A, XM_047430661.1:c.1342G>A, XM_047430667.1:c.1300G>A, XM_047430657.1:c.1387G>A, XM_047430670.1:c.1255G>A, XM_047430671.1:c.1255G>A, XM_047430659.1:c.1357G>A, XM_047430662.1:c.1444G>A, XM_047430669.1:c.1387G>A, XM_047430668.1:c.1285G>A, XM_047430658.1:c.1360G>A, XM_047430663.1:c.1330G>A, XM_047430665.1:c.1315G>A, XM_047430666.1:c.1417G>A, XM_047430664.1:c.1444G>A, XM_047430672.1:c.1360G>A, XM_047430673.1:c.1228G>A, XM_047430674.1:c.1330G>A, XM_047430675.1:c.1171G>A, XM_047430676.1:c.1444G>A, NP_783195.2:p.Ala482Thr, NP_006522.2:p.Ala473Thr, XP_006719933.1:p.Ala473Thr, NP_001340497.1:p.Ala473Thr, XP_016876252.1:p.Ala482Thr, XP_016876246.1:p.Ala473Thr, NP_001305422.1:p.Ala482Thr, NP_001340495.1:p.Ala482Thr, XP_016876251.1:p.Ala482Thr, XP_024305181.1:p.Ala429Thr, NP_001340499.1:p.Ala448Thr, NP_001340494.1:p.Ala482Thr, NP_001340496.1:p.Ala482Thr, NP_001340505.1:p.Ala448Thr, NP_001340498.1:p.Ala448Thr, NP_001340506.1:p.Ala448Thr, NP_001340504.1:p.Ala454Thr, NP_001305420.1:p.Ala454Thr, NP_001340508.1:p.Ala262Thr, NP_001340500.1:p.Ala439Thr, NP_001340501.1:p.Ala473Thr, NP_001340502.1:p.Ala425Thr, NP_001340503.1:p.Ala420Thr, NP_001340507.1:p.Ala439Thr, XP_047286611.1:p.Ala473Thr, XP_047286612.1:p.Ala463Thr, XP_047286616.1:p.Ala453Thr, XP_047286617.1:p.Ala448Thr, XP_047286623.1:p.Ala434Thr, XP_047286613.1:p.Ala463Thr, XP_047286626.1:p.Ala419Thr, XP_047286627.1:p.Ala419Thr, XP_047286615.1:p.Ala453Thr, XP_047286618.1:p.Ala482Thr, XP_047286625.1:p.Ala463Thr, XP_047286624.1:p.Ala429Thr, XP_047286614.1:p.Ala454Thr, XP_047286619.1:p.Ala444Thr, XP_047286621.1:p.Ala439Thr, XP_047286622.1:p.Ala473Thr, XP_047286620.1:p.Ala482Thr, XP_047286628.1:p.Ala454Thr, XP_047286629.1:p.Ala410Thr, XP_047286630.1:p.Ala444Thr, XP_047286631.1:p.Ala391Thr, XP_047286632.1:p.Ala482Thr

              7.

              rs1482059434 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                13:20625772 (GRCh38)
                13:21199911 (GRCh37)
                Canonical SPDI:
                NC_000013.11:20625771:T:A
                Gene:
                IFT88 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                HGVS:
                NC_000013.11:g.20625772T>A, NC_000013.10:g.21199911T>A, NM_175605.5:c.1249T>A, NM_175605.4:c.1249T>A, NM_175605.3:c.1249T>A, NM_006531.5:c.1222T>A, NM_006531.4:c.1222T>A, NM_006531.3:c.1222T>A, XM_006719870.4:c.1222T>A, XM_006719870.3:c.1222T>A, XM_006719870.2:c.1222T>A, XM_006719870.1:c.1222T>A, NR_134653.2:n.1656T>A, NR_134653.1:n.1997T>A, NR_148462.2:n.1557T>A, NR_148462.1:n.1898T>A, NR_148463.2:n.1491T>A, NR_148463.1:n.1832T>A, NM_001353568.2:c.1222T>A, NM_001353568.1:c.1222T>A, XM_017020763.2:c.1249T>A, XM_017020763.1:c.1249T>A, XM_017020757.2:c.1222T>A, XM_017020757.1:c.1222T>A, NM_001318493.2:c.1249T>A, NM_001318493.1:c.1249T>A, NM_001353566.2:c.1249T>A, NM_001353566.1:c.1249T>A, XM_017020762.2:c.1249T>A, XM_017020762.1:c.1249T>A, XM_024449413.2:c.1090T>A, XM_024449413.1:c.1090T>A, NM_001353570.2:c.1147T>A, NM_001353570.1:c.1147T>A, NR_148464.2:n.1328T>A, NR_148464.1:n.1669T>A, NM_001353565.2:c.1249T>A, NM_001353565.1:c.1249T>A, NM_001353567.2:c.1249T>A, NM_001353567.1:c.1249T>A, NM_001353576.2:c.1147T>A, NM_001353576.1:c.1147T>A, NM_001353569.2:c.1147T>A, NM_001353569.1:c.1147T>A, NM_001353577.2:c.1147T>A, NM_001353577.1:c.1147T>A, NM_001353575.2:c.1165T>A, NM_001353575.1:c.1165T>A, NM_001318491.2:c.1165T>A, NM_001318491.1:c.1165T>A, NM_001353579.2:c.589T>A, NM_001353579.1:c.589T>A, NM_001353571.2:c.1120T>A, NM_001353571.1:c.1120T>A, NM_001353572.2:c.1222T>A, NM_001353572.1:c.1222T>A, NM_001353573.2:c.1078T>A, NM_001353573.1:c.1078T>A, NM_001353574.2:c.1063T>A, NM_001353574.1:c.1063T>A, NM_001353578.2:c.1120T>A, NM_001353578.1:c.1120T>A, NR_148465.2:n.1271T>A, NR_148465.1:n.1612T>A, XM_017020775.2:c.1249T>A, XM_017020775.1:c.1249T>A, XM_047430655.1:c.1222T>A, XM_047430656.1:c.1192T>A, XM_047430660.1:c.1162T>A, XM_047430661.1:c.1147T>A, XM_047430667.1:c.1105T>A, XM_047430657.1:c.1192T>A, XM_047430670.1:c.1060T>A, XM_047430671.1:c.1060T>A, XM_047430659.1:c.1162T>A, XM_047430662.1:c.1249T>A, XM_047430669.1:c.1192T>A, XM_047430668.1:c.1090T>A, XM_047430658.1:c.1165T>A, XM_047430663.1:c.1135T>A, XM_047430665.1:c.1120T>A, XM_047430666.1:c.1222T>A, XM_047430664.1:c.1249T>A, XM_047430672.1:c.1165T>A, XM_047430673.1:c.1033T>A, XM_047430674.1:c.1135T>A, XM_047430675.1:c.976T>A, XM_047430676.1:c.1249T>A, XR_007063700.1:n.1656T>A, NP_783195.2:p.Ser417Thr, NP_006522.2:p.Ser408Thr, XP_006719933.1:p.Ser408Thr, NP_001340497.1:p.Ser408Thr, XP_016876252.1:p.Ser417Thr, XP_016876246.1:p.Ser408Thr, NP_001305422.1:p.Ser417Thr, NP_001340495.1:p.Ser417Thr, XP_016876251.1:p.Ser417Thr, XP_024305181.1:p.Ser364Thr, NP_001340499.1:p.Ser383Thr, NP_001340494.1:p.Ser417Thr, NP_001340496.1:p.Ser417Thr, NP_001340505.1:p.Ser383Thr, NP_001340498.1:p.Ser383Thr, NP_001340506.1:p.Ser383Thr, NP_001340504.1:p.Ser389Thr, NP_001305420.1:p.Ser389Thr, NP_001340508.1:p.Ser197Thr, NP_001340500.1:p.Ser374Thr, NP_001340501.1:p.Ser408Thr, NP_001340502.1:p.Ser360Thr, NP_001340503.1:p.Ser355Thr, NP_001340507.1:p.Ser374Thr, XP_016876264.1:p.Ser417Thr, XP_047286611.1:p.Ser408Thr, XP_047286612.1:p.Ser398Thr, XP_047286616.1:p.Ser388Thr, XP_047286617.1:p.Ser383Thr, XP_047286623.1:p.Ser369Thr, XP_047286613.1:p.Ser398Thr, XP_047286626.1:p.Ser354Thr, XP_047286627.1:p.Ser354Thr, XP_047286615.1:p.Ser388Thr, XP_047286618.1:p.Ser417Thr, XP_047286625.1:p.Ser398Thr, XP_047286624.1:p.Ser364Thr, XP_047286614.1:p.Ser389Thr, XP_047286619.1:p.Ser379Thr, XP_047286621.1:p.Ser374Thr, XP_047286622.1:p.Ser408Thr, XP_047286620.1:p.Ser417Thr, XP_047286628.1:p.Ser389Thr, XP_047286629.1:p.Ser345Thr, XP_047286630.1:p.Ser379Thr, XP_047286631.1:p.Ser326Thr, XP_047286632.1:p.Ser417Thr

                8.

                rs1480273521 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->AAAAAAA [Show Flanks]
                  Chromosome:
                  13:20631040 (GRCh38)
                  13:21205180 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:20631040:AAAAAAA:AAAAAAAAAAAAAA
                  Gene:
                  IFT88 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAAAAAAA=0.0018/8 (ALFA)
                  AAAAAAA=0.0018/8 (Estonian)
                  HGVS:
                  NC_000013.11:g.20631041_20631047dup, NC_000013.10:g.21205180_21205186dup, NM_175605.5:c.1352_1358dup, NM_175605.4:c.1352_1358dup, NM_175605.3:c.1352_1358dup, NM_006531.5:c.1325_1331dup, NM_006531.4:c.1325_1331dup, NM_006531.3:c.1325_1331dup, XM_006719870.4:c.1325_1331dup, XM_006719870.3:c.1325_1331dup, XM_006719870.2:c.1325_1331dup, XM_006719870.1:c.1325_1331dup, NR_134653.2:n.1759_1765dup, NR_134653.1:n.2100_2106dup, NR_148462.2:n.1660_1666dup, NR_148462.1:n.2001_2007dup, NR_148463.2:n.1594_1600dup, NR_148463.1:n.1935_1941dup, NM_001353568.2:c.1325_1331dup, NM_001353568.1:c.1325_1331dup, XM_017020763.2:c.1352_1358dup, XM_017020763.1:c.1352_1358dup, XM_017020757.2:c.1325_1331dup, XM_017020757.1:c.1325_1331dup, NM_001318493.2:c.1352_1358dup, NM_001318493.1:c.1352_1358dup, NM_001353566.2:c.1352_1358dup, NM_001353566.1:c.1352_1358dup, XM_017020762.2:c.1352_1358dup, XM_017020762.1:c.1352_1358dup, XM_024449413.2:c.1193_1199dup, XM_024449413.1:c.1193_1199dup, NM_001353570.2:c.1250_1256dup, NM_001353570.1:c.1250_1256dup, NR_148464.2:n.1431_1437dup, NR_148464.1:n.1772_1778dup, NM_001353565.2:c.1352_1358dup, NM_001353565.1:c.1352_1358dup, NM_001353567.2:c.1352_1358dup, NM_001353567.1:c.1352_1358dup, NM_001353576.2:c.1250_1256dup, NM_001353576.1:c.1250_1256dup, NM_001353569.2:c.1250_1256dup, NM_001353569.1:c.1250_1256dup, NM_001353577.2:c.1250_1256dup, NM_001353577.1:c.1250_1256dup, NM_001353575.2:c.1268_1274dup, NM_001353575.1:c.1268_1274dup, NM_001318491.2:c.1268_1274dup, NM_001318491.1:c.1268_1274dup, NM_001353579.2:c.692_698dup, NM_001353579.1:c.692_698dup, NM_001353571.2:c.1223_1229dup, NM_001353571.1:c.1223_1229dup, NM_001353572.2:c.1325_1331dup, NM_001353572.1:c.1325_1331dup, NM_001353573.2:c.1181_1187dup, NM_001353573.1:c.1181_1187dup, NM_001353574.2:c.1166_1172dup, NM_001353574.1:c.1166_1172dup, NM_001353578.2:c.1223_1229dup, NM_001353578.1:c.1223_1229dup, NR_148465.2:n.1374_1380dup, NR_148465.1:n.1715_1721dup, XM_017020775.2:c.1352_1358dup, XM_017020775.1:c.1352_1358dup, XM_047430655.1:c.1325_1331dup, XM_047430656.1:c.1295_1301dup, XM_047430660.1:c.1265_1271dup, XM_047430661.1:c.1250_1256dup, XM_047430667.1:c.1208_1214dup, XM_047430657.1:c.1295_1301dup, XM_047430670.1:c.1163_1169dup, XM_047430671.1:c.1163_1169dup, XM_047430659.1:c.1265_1271dup, XM_047430662.1:c.1352_1358dup, XM_047430669.1:c.1295_1301dup, XM_047430668.1:c.1193_1199dup, XM_047430658.1:c.1268_1274dup, XM_047430663.1:c.1238_1244dup, XM_047430665.1:c.1223_1229dup, XM_047430666.1:c.1325_1331dup, XM_047430664.1:c.1352_1358dup, XM_047430672.1:c.1268_1274dup, XM_047430673.1:c.1136_1142dup, XM_047430674.1:c.1238_1244dup, XM_047430675.1:c.1079_1085dup, XM_047430676.1:c.1352_1358dup, XR_007063700.1:n.1759_1765dup, NP_783195.2:p.Asp454fs, NP_006522.2:p.Asp445fs, XP_006719933.1:p.Asp445fs, NP_001340497.1:p.Asp445fs, XP_016876252.1:p.Asp454fs, XP_016876246.1:p.Asp445fs, NP_001305422.1:p.Asp454fs, NP_001340495.1:p.Asp454fs, XP_016876251.1:p.Asp454fs, XP_024305181.1:p.Asp401fs, NP_001340499.1:p.Asp420fs, NP_001340494.1:p.Asp454fs, NP_001340496.1:p.Asp454fs, NP_001340505.1:p.Asp420fs, NP_001340498.1:p.Asp420fs, NP_001340506.1:p.Asp420fs, NP_001340504.1:p.Asp426fs, NP_001305420.1:p.Asp426fs, NP_001340508.1:p.Asp234fs, NP_001340500.1:p.Asp411fs, NP_001340501.1:p.Asp445fs, NP_001340502.1:p.Asp397fs, NP_001340503.1:p.Asp392fs, NP_001340507.1:p.Asp411fs, XP_016876264.1:p.Asp454fs, XP_047286611.1:p.Asp445fs, XP_047286612.1:p.Asp435fs, XP_047286616.1:p.Asp425fs, XP_047286617.1:p.Asp420fs, XP_047286623.1:p.Asp406fs, XP_047286613.1:p.Asp435fs, XP_047286626.1:p.Asp391fs, XP_047286627.1:p.Asp391fs, XP_047286615.1:p.Asp425fs, XP_047286618.1:p.Asp454fs, XP_047286625.1:p.Asp435fs, XP_047286624.1:p.Asp401fs, XP_047286614.1:p.Asp426fs, XP_047286619.1:p.Asp416fs, XP_047286621.1:p.Asp411fs, XP_047286622.1:p.Asp445fs, XP_047286620.1:p.Asp454fs, XP_047286628.1:p.Asp426fs, XP_047286629.1:p.Asp382fs, XP_047286630.1:p.Asp416fs, XP_047286631.1:p.Asp363fs, XP_047286632.1:p.Asp454fs

                  9.

                  rs1478840420 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    13:20653894 (GRCh38)
                    13:21228033 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:20653893:G:A,NC_000013.11:20653893:G:C
                    Gene:
                    IFT88 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,stop_gained,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0.000047/1 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000013.11:g.20653894G>A, NC_000013.11:g.20653894G>C, NC_000013.10:g.21228033G>A, NC_000013.10:g.21228033G>C, NM_175605.5:c.1995G>A, NM_175605.5:c.1995G>C, NM_175605.4:c.1995G>A, NM_175605.4:c.1995G>C, NM_175605.3:c.1995G>A, NM_175605.3:c.1995G>C, NM_006531.5:c.1968G>A, NM_006531.5:c.1968G>C, NM_006531.4:c.1968G>A, NM_006531.4:c.1968G>C, NM_006531.3:c.1968G>A, NM_006531.3:c.1968G>C, XM_006719870.4:c.1968G>A, XM_006719870.4:c.1968G>C, XM_006719870.3:c.1968G>A, XM_006719870.3:c.1968G>C, XM_006719870.2:c.1968G>A, XM_006719870.2:c.1968G>C, XM_006719870.1:c.1968G>A, XM_006719870.1:c.1968G>C, NR_134653.2:n.2402G>A, NR_134653.2:n.2402G>C, NR_134653.1:n.2743G>A, NR_134653.1:n.2743G>C, NR_148462.2:n.2303G>A, NR_148462.2:n.2303G>C, NR_148462.1:n.2644G>A, NR_148462.1:n.2644G>C, NR_148463.2:n.2335G>A, NR_148463.2:n.2335G>C, NR_148463.1:n.2676G>A, NR_148463.1:n.2676G>C, NM_001353568.2:c.1968G>A, NM_001353568.2:c.1968G>C, NM_001353568.1:c.1968G>A, NM_001353568.1:c.1968G>C, XM_017020763.2:c.1995G>A, XM_017020763.2:c.1995G>C, XM_017020763.1:c.1995G>A, XM_017020763.1:c.1995G>C, XM_017020757.2:c.1968G>A, XM_017020757.2:c.1968G>C, XM_017020757.1:c.1968G>A, XM_017020757.1:c.1968G>C, NM_001318493.2:c.1995G>A, NM_001318493.2:c.1995G>C, NM_001318493.1:c.1995G>A, NM_001318493.1:c.1995G>C, NM_001353566.2:c.1995G>A, NM_001353566.2:c.1995G>C, NM_001353566.1:c.1995G>A, NM_001353566.1:c.1995G>C, XM_017020762.2:c.1995G>A, XM_017020762.2:c.1995G>C, XM_017020762.1:c.1995G>A, XM_017020762.1:c.1995G>C, XM_024449413.2:c.1836G>A, XM_024449413.2:c.1836G>C, XM_024449413.1:c.1836G>A, XM_024449413.1:c.1836G>C, NM_001353570.2:c.1893G>A, NM_001353570.2:c.1893G>C, NM_001353570.1:c.1893G>A, NM_001353570.1:c.1893G>C, NR_148464.2:n.2074G>A, NR_148464.2:n.2074G>C, NR_148464.1:n.2415G>A, NR_148464.1:n.2415G>C, NM_001353565.2:c.1995G>A, NM_001353565.2:c.1995G>C, NM_001353565.1:c.1995G>A, NM_001353565.1:c.1995G>C, NM_001353567.2:c.1995G>A, NM_001353567.2:c.1995G>C, NM_001353567.1:c.1995G>A, NM_001353567.1:c.1995G>C, NM_001353576.2:c.1893G>A, NM_001353576.2:c.1893G>C, NM_001353576.1:c.1893G>A, NM_001353576.1:c.1893G>C, NM_001353569.2:c.1893G>A, NM_001353569.2:c.1893G>C, NM_001353569.1:c.1893G>A, NM_001353569.1:c.1893G>C, NM_001353577.2:c.1893G>A, NM_001353577.2:c.1893G>C, NM_001353577.1:c.1893G>A, NM_001353577.1:c.1893G>C, NM_001353575.2:c.1911G>A, NM_001353575.2:c.1911G>C, NM_001353575.1:c.1911G>A, NM_001353575.1:c.1911G>C, NM_001318491.2:c.1911G>A, NM_001318491.2:c.1911G>C, NM_001318491.1:c.1911G>A, NM_001318491.1:c.1911G>C, NM_001353579.2:c.1335G>A, NM_001353579.2:c.1335G>C, NM_001353579.1:c.1335G>A, NM_001353579.1:c.1335G>C, NM_001353571.2:c.1866G>A, NM_001353571.2:c.1866G>C, NM_001353571.1:c.1866G>A, NM_001353571.1:c.1866G>C, NM_001353572.2:c.1968G>A, NM_001353572.2:c.1968G>C, NM_001353572.1:c.1968G>A, NM_001353572.1:c.1968G>C, NM_001353573.2:c.1824G>A, NM_001353573.2:c.1824G>C, NM_001353573.1:c.1824G>A, NM_001353573.1:c.1824G>C, NM_001353574.2:c.1809G>A, NM_001353574.2:c.1809G>C, NM_001353574.1:c.1809G>A, NM_001353574.1:c.1809G>C, NM_001353578.2:c.1866G>A, NM_001353578.2:c.1866G>C, NM_001353578.1:c.1866G>A, NM_001353578.1:c.1866G>C, NR_148465.2:n.1454G>A, NR_148465.2:n.1454G>C, NR_148465.1:n.1795G>A, NR_148465.1:n.1795G>C, XM_047430655.1:c.1968G>A, XM_047430655.1:c.1968G>C, XM_047430656.1:c.1938G>A, XM_047430656.1:c.1938G>C, XM_047430660.1:c.1908G>A, XM_047430660.1:c.1908G>C, XM_047430661.1:c.1893G>A, XM_047430661.1:c.1893G>C, XM_047430667.1:c.1851G>A, XM_047430667.1:c.1851G>C, XM_047430657.1:c.1938G>A, XM_047430657.1:c.1938G>C, XM_047430670.1:c.1806G>A, XM_047430670.1:c.1806G>C, XM_047430671.1:c.1806G>A, XM_047430671.1:c.1806G>C, XM_047430659.1:c.1908G>A, XM_047430659.1:c.1908G>C, XM_047430662.1:c.1995G>A, XM_047430662.1:c.1995G>C, XM_047430669.1:c.1938G>A, XM_047430669.1:c.1938G>C, XM_047430668.1:c.1836G>A, XM_047430668.1:c.1836G>C, XM_047430658.1:c.1911G>A, XM_047430658.1:c.1911G>C, XM_047430663.1:c.1881G>A, XM_047430663.1:c.1881G>C, XM_047430665.1:c.1866G>A, XM_047430665.1:c.1866G>C, XM_047430666.1:c.1968G>A, XM_047430666.1:c.1968G>C, XM_047430664.1:c.1995G>A, XM_047430664.1:c.1995G>C, XM_047430672.1:c.1911G>A, XM_047430672.1:c.1911G>C, XM_047430673.1:c.1779G>A, XM_047430673.1:c.1779G>C, XM_047430674.1:c.1881G>A, XM_047430674.1:c.1881G>C, XM_047430675.1:c.1722G>A, XM_047430675.1:c.1722G>C, XM_047430676.1:c.1995G>A, XM_047430676.1:c.1995G>C, XR_007063700.1:n.1839G>A, XR_007063700.1:n.1839G>C, NP_783195.2:p.Trp665Ter, NP_783195.2:p.Trp665Cys, NP_006522.2:p.Trp656Ter, NP_006522.2:p.Trp656Cys, XP_006719933.1:p.Trp656Ter, XP_006719933.1:p.Trp656Cys, NP_001340497.1:p.Trp656Ter, NP_001340497.1:p.Trp656Cys, XP_016876252.1:p.Trp665Ter, XP_016876252.1:p.Trp665Cys, XP_016876246.1:p.Trp656Ter, XP_016876246.1:p.Trp656Cys, NP_001305422.1:p.Trp665Ter, NP_001305422.1:p.Trp665Cys, NP_001340495.1:p.Trp665Ter, NP_001340495.1:p.Trp665Cys, XP_016876251.1:p.Trp665Ter, XP_016876251.1:p.Trp665Cys, XP_024305181.1:p.Trp612Ter, XP_024305181.1:p.Trp612Cys, NP_001340499.1:p.Trp631Ter, NP_001340499.1:p.Trp631Cys, NP_001340494.1:p.Trp665Ter, NP_001340494.1:p.Trp665Cys, NP_001340496.1:p.Trp665Ter, NP_001340496.1:p.Trp665Cys, NP_001340505.1:p.Trp631Ter, NP_001340505.1:p.Trp631Cys, NP_001340498.1:p.Trp631Ter, NP_001340498.1:p.Trp631Cys, NP_001340506.1:p.Trp631Ter, NP_001340506.1:p.Trp631Cys, NP_001340504.1:p.Trp637Ter, NP_001340504.1:p.Trp637Cys, NP_001305420.1:p.Trp637Ter, NP_001305420.1:p.Trp637Cys, NP_001340508.1:p.Trp445Ter, NP_001340508.1:p.Trp445Cys, NP_001340500.1:p.Trp622Ter, NP_001340500.1:p.Trp622Cys, NP_001340501.1:p.Trp656Ter, NP_001340501.1:p.Trp656Cys, NP_001340502.1:p.Trp608Ter, NP_001340502.1:p.Trp608Cys, NP_001340503.1:p.Trp603Ter, NP_001340503.1:p.Trp603Cys, NP_001340507.1:p.Trp622Ter, NP_001340507.1:p.Trp622Cys, XP_047286611.1:p.Trp656Ter, XP_047286611.1:p.Trp656Cys, XP_047286612.1:p.Trp646Ter, XP_047286612.1:p.Trp646Cys, XP_047286616.1:p.Trp636Ter, XP_047286616.1:p.Trp636Cys, XP_047286617.1:p.Trp631Ter, XP_047286617.1:p.Trp631Cys, XP_047286623.1:p.Trp617Ter, XP_047286623.1:p.Trp617Cys, XP_047286613.1:p.Trp646Ter, XP_047286613.1:p.Trp646Cys, XP_047286626.1:p.Trp602Ter, XP_047286626.1:p.Trp602Cys, XP_047286627.1:p.Trp602Ter, XP_047286627.1:p.Trp602Cys, XP_047286615.1:p.Trp636Ter, XP_047286615.1:p.Trp636Cys, XP_047286618.1:p.Trp665Ter, XP_047286618.1:p.Trp665Cys, XP_047286625.1:p.Trp646Ter, XP_047286625.1:p.Trp646Cys, XP_047286624.1:p.Trp612Ter, XP_047286624.1:p.Trp612Cys, XP_047286614.1:p.Trp637Ter, XP_047286614.1:p.Trp637Cys, XP_047286619.1:p.Trp627Ter, XP_047286619.1:p.Trp627Cys, XP_047286621.1:p.Trp622Ter, XP_047286621.1:p.Trp622Cys, XP_047286622.1:p.Trp656Ter, XP_047286622.1:p.Trp656Cys, XP_047286620.1:p.Trp665Ter, XP_047286620.1:p.Trp665Cys, XP_047286628.1:p.Trp637Ter, XP_047286628.1:p.Trp637Cys, XP_047286629.1:p.Trp593Ter, XP_047286629.1:p.Trp593Cys, XP_047286630.1:p.Trp627Ter, XP_047286630.1:p.Trp627Cys, XP_047286631.1:p.Trp574Ter, XP_047286631.1:p.Trp574Cys, XP_047286632.1:p.Trp665Ter, XP_047286632.1:p.Trp665Cys

                    10.

                    rs1478634020 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      13:20644850 (GRCh38)
                      13:21218989 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:20644849:G:A
                      Gene:
                      IFT88 (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000013.11:g.20644850G>A, NC_000013.10:g.21218989G>A, NM_175605.5:c.1868G>A, NM_175605.4:c.1868G>A, NM_175605.3:c.1868G>A, NM_006531.5:c.1841G>A, NM_006531.4:c.1841G>A, NM_006531.3:c.1841G>A, XM_006719870.4:c.1841G>A, XM_006719870.3:c.1841G>A, XM_006719870.2:c.1841G>A, XM_006719870.1:c.1841G>A, NR_134653.2:n.2275G>A, NR_134653.1:n.2616G>A, NR_148462.2:n.2176G>A, NR_148462.1:n.2517G>A, NR_148463.2:n.2208G>A, NR_148463.1:n.2549G>A, NM_001353568.2:c.1841G>A, NM_001353568.1:c.1841G>A, XM_017020763.2:c.1868G>A, XM_017020763.1:c.1868G>A, XM_017020757.2:c.1841G>A, XM_017020757.1:c.1841G>A, NM_001318493.2:c.1868G>A, NM_001318493.1:c.1868G>A, NM_001353566.2:c.1868G>A, NM_001353566.1:c.1868G>A, XM_017020762.2:c.1868G>A, XM_017020762.1:c.1868G>A, XM_024449413.2:c.1709G>A, XM_024449413.1:c.1709G>A, NM_001353570.2:c.1766G>A, NM_001353570.1:c.1766G>A, NR_148464.2:n.1947G>A, NR_148464.1:n.2288G>A, NM_001353565.2:c.1868G>A, NM_001353565.1:c.1868G>A, NM_001353567.2:c.1868G>A, NM_001353567.1:c.1868G>A, NM_001353576.2:c.1766G>A, NM_001353576.1:c.1766G>A, NM_001353569.2:c.1766G>A, NM_001353569.1:c.1766G>A, NM_001353577.2:c.1766G>A, NM_001353577.1:c.1766G>A, NM_001353575.2:c.1784G>A, NM_001353575.1:c.1784G>A, NM_001318491.2:c.1784G>A, NM_001318491.1:c.1784G>A, NM_001353579.2:c.1208G>A, NM_001353579.1:c.1208G>A, NM_001353571.2:c.1739G>A, NM_001353571.1:c.1739G>A, NM_001353572.2:c.1841G>A, NM_001353572.1:c.1841G>A, NM_001353573.2:c.1697G>A, NM_001353573.1:c.1697G>A, NM_001353574.2:c.1682G>A, NM_001353574.1:c.1682G>A, NM_001353578.2:c.1739G>A, NM_001353578.1:c.1739G>A, XM_047430655.1:c.1841G>A, XM_047430656.1:c.1811G>A, XM_047430660.1:c.1781G>A, XM_047430661.1:c.1766G>A, XM_047430667.1:c.1724G>A, XM_047430657.1:c.1811G>A, XM_047430670.1:c.1679G>A, XM_047430671.1:c.1679G>A, XM_047430659.1:c.1781G>A, XM_047430662.1:c.1868G>A, XM_047430669.1:c.1811G>A, XM_047430668.1:c.1709G>A, XM_047430658.1:c.1784G>A, XM_047430663.1:c.1754G>A, XM_047430665.1:c.1739G>A, XM_047430666.1:c.1841G>A, XM_047430664.1:c.1868G>A, XM_047430672.1:c.1784G>A, XM_047430673.1:c.1652G>A, XM_047430674.1:c.1754G>A, XM_047430675.1:c.1595G>A, XM_047430676.1:c.1868G>A, NP_783195.2:p.Arg623Lys, NP_006522.2:p.Arg614Lys, XP_006719933.1:p.Arg614Lys, NP_001340497.1:p.Arg614Lys, XP_016876252.1:p.Arg623Lys, XP_016876246.1:p.Arg614Lys, NP_001305422.1:p.Arg623Lys, NP_001340495.1:p.Arg623Lys, XP_016876251.1:p.Arg623Lys, XP_024305181.1:p.Arg570Lys, NP_001340499.1:p.Arg589Lys, NP_001340494.1:p.Arg623Lys, NP_001340496.1:p.Arg623Lys, NP_001340505.1:p.Arg589Lys, NP_001340498.1:p.Arg589Lys, NP_001340506.1:p.Arg589Lys, NP_001340504.1:p.Arg595Lys, NP_001305420.1:p.Arg595Lys, NP_001340508.1:p.Arg403Lys, NP_001340500.1:p.Arg580Lys, NP_001340501.1:p.Arg614Lys, NP_001340502.1:p.Arg566Lys, NP_001340503.1:p.Arg561Lys, NP_001340507.1:p.Arg580Lys, XP_047286611.1:p.Arg614Lys, XP_047286612.1:p.Arg604Lys, XP_047286616.1:p.Arg594Lys, XP_047286617.1:p.Arg589Lys, XP_047286623.1:p.Arg575Lys, XP_047286613.1:p.Arg604Lys, XP_047286626.1:p.Arg560Lys, XP_047286627.1:p.Arg560Lys, XP_047286615.1:p.Arg594Lys, XP_047286618.1:p.Arg623Lys, XP_047286625.1:p.Arg604Lys, XP_047286624.1:p.Arg570Lys, XP_047286614.1:p.Arg595Lys, XP_047286619.1:p.Arg585Lys, XP_047286621.1:p.Arg580Lys, XP_047286622.1:p.Arg614Lys, XP_047286620.1:p.Arg623Lys, XP_047286628.1:p.Arg595Lys, XP_047286629.1:p.Arg551Lys, XP_047286630.1:p.Arg585Lys, XP_047286631.1:p.Arg532Lys, XP_047286632.1:p.Arg623Lys

                      11.

                      rs1478029099 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        13:20592353 (GRCh38)
                        13:21166492 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:20592352:T:G
                        Gene:
                        IFT88 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000071/1 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000013.11:g.20592353T>G, NC_000013.10:g.21166492T>G, NM_175605.5:c.374T>G, NM_175605.4:c.374T>G, NM_175605.3:c.374T>G, NM_006531.5:c.347T>G, NM_006531.4:c.347T>G, NM_006531.3:c.347T>G, XM_006719870.4:c.347T>G, XM_006719870.3:c.347T>G, XM_006719870.2:c.347T>G, XM_006719870.1:c.347T>G, NR_134653.2:n.781T>G, NR_134653.1:n.1122T>G, NR_148462.2:n.682T>G, NR_148462.1:n.1023T>G, NR_148463.2:n.616T>G, NR_148463.1:n.957T>G, NM_001353568.2:c.347T>G, NM_001353568.1:c.347T>G, XM_017020763.2:c.374T>G, XM_017020763.1:c.374T>G, XM_017020757.2:c.347T>G, XM_017020757.1:c.347T>G, NM_001318493.2:c.374T>G, NM_001318493.1:c.374T>G, NM_001353566.2:c.374T>G, NM_001353566.1:c.374T>G, XM_017020762.2:c.374T>G, XM_017020762.1:c.374T>G, XM_024449413.2:c.317T>G, XM_024449413.1:c.317T>G, NM_001353570.2:c.374T>G, NM_001353570.1:c.374T>G, NR_148464.2:n.453T>G, NR_148464.1:n.794T>G, XM_024449415.2:c.374T>G, XM_024449415.1:c.374T>G, NM_001353565.2:c.374T>G, NM_001353565.1:c.374T>G, NM_001353567.2:c.374T>G, NM_001353567.1:c.374T>G, NM_001353576.2:c.374T>G, NM_001353576.1:c.374T>G, NM_001353569.2:c.374T>G, NM_001353569.1:c.374T>G, NM_001353577.2:c.374T>G, NM_001353577.1:c.374T>G, NM_001353575.2:c.290T>G, NM_001353575.1:c.290T>G, NM_001318491.2:c.290T>G, NM_001318491.1:c.290T>G, NM_001353571.2:c.347T>G, NM_001353571.1:c.347T>G, NM_001353572.2:c.347T>G, NM_001353572.1:c.347T>G, NM_001353573.2:c.290T>G, NM_001353573.1:c.290T>G, NM_001353574.2:c.290T>G, NM_001353574.1:c.290T>G, NM_001353578.2:c.347T>G, NM_001353578.1:c.347T>G, NR_148465.2:n.396T>G, NR_148465.1:n.737T>G, XM_017020775.2:c.374T>G, XM_017020775.1:c.374T>G, XM_017020776.2:c.374T>G, XM_017020776.1:c.374T>G, XM_047430655.1:c.347T>G, XM_047430656.1:c.317T>G, XM_047430660.1:c.374T>G, XM_047430661.1:c.374T>G, XM_047430667.1:c.317T>G, XM_047430657.1:c.317T>G, XM_047430670.1:c.374T>G, XM_047430671.1:c.374T>G, XM_047430659.1:c.374T>G, XM_047430662.1:c.374T>G, XM_047430669.1:c.317T>G, XM_047430668.1:c.317T>G, XM_047430658.1:c.290T>G, XM_047430663.1:c.347T>G, XM_047430665.1:c.347T>G, XM_047430666.1:c.347T>G, XM_047430664.1:c.374T>G, XM_047430672.1:c.290T>G, XM_047430673.1:c.347T>G, XM_047430674.1:c.347T>G, XM_047430677.1:c.347T>G, XM_047430675.1:c.290T>G, XM_047430676.1:c.374T>G, XR_007063700.1:n.781T>G, XM_047430679.1:c.374T>G, XM_047430678.1:c.347T>G, NP_783195.2:p.Leu125Arg, NP_006522.2:p.Leu116Arg, XP_006719933.1:p.Leu116Arg, NP_001340497.1:p.Leu116Arg, XP_016876252.1:p.Leu125Arg, XP_016876246.1:p.Leu116Arg, NP_001305422.1:p.Leu125Arg, NP_001340495.1:p.Leu125Arg, XP_016876251.1:p.Leu125Arg, XP_024305181.1:p.Leu106Arg, NP_001340499.1:p.Leu125Arg, XP_024305183.1:p.Leu125Arg, NP_001340494.1:p.Leu125Arg, NP_001340496.1:p.Leu125Arg, NP_001340505.1:p.Leu125Arg, NP_001340498.1:p.Leu125Arg, NP_001340506.1:p.Leu125Arg, NP_001340504.1:p.Leu97Arg, NP_001305420.1:p.Leu97Arg, NP_001340500.1:p.Leu116Arg, NP_001340501.1:p.Leu116Arg, NP_001340502.1:p.Leu97Arg, NP_001340503.1:p.Leu97Arg, NP_001340507.1:p.Leu116Arg, XP_016876264.1:p.Leu125Arg, XP_016876265.1:p.Leu125Arg, XP_047286611.1:p.Leu116Arg, XP_047286612.1:p.Leu106Arg, XP_047286616.1:p.Leu125Arg, XP_047286617.1:p.Leu125Arg, XP_047286623.1:p.Leu106Arg, XP_047286613.1:p.Leu106Arg, XP_047286626.1:p.Leu125Arg, XP_047286627.1:p.Leu125Arg, XP_047286615.1:p.Leu125Arg, XP_047286618.1:p.Leu125Arg, XP_047286625.1:p.Leu106Arg, XP_047286624.1:p.Leu106Arg, XP_047286614.1:p.Leu97Arg, XP_047286619.1:p.Leu116Arg, XP_047286621.1:p.Leu116Arg, XP_047286622.1:p.Leu116Arg, XP_047286620.1:p.Leu125Arg, XP_047286628.1:p.Leu97Arg, XP_047286629.1:p.Leu116Arg, XP_047286630.1:p.Leu116Arg, XP_047286633.1:p.Leu116Arg, XP_047286631.1:p.Leu97Arg, XP_047286632.1:p.Leu125Arg, XP_047286635.1:p.Leu125Arg, XP_047286634.1:p.Leu116Arg

                        12.

                        rs1477088140 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          13:20599487 (GRCh38)
                          13:21173626 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:20599486:A:G
                          Gene:
                          IFT88 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,missense_variant
                          HGVS:
                          NC_000013.11:g.20599487A>G, NC_000013.10:g.21173626A>G, NM_175605.5:c.761A>G, NM_175605.4:c.761A>G, NM_175605.3:c.761A>G, NM_006531.5:c.734A>G, NM_006531.4:c.734A>G, NM_006531.3:c.734A>G, XM_006719870.4:c.734A>G, XM_006719870.3:c.734A>G, XM_006719870.2:c.734A>G, XM_006719870.1:c.734A>G, NR_134653.2:n.1168A>G, NR_134653.1:n.1509A>G, NR_148462.2:n.1069A>G, NR_148462.1:n.1410A>G, NR_148463.2:n.1003A>G, NR_148463.1:n.1344A>G, NM_001353568.2:c.734A>G, NM_001353568.1:c.734A>G, XM_017020763.2:c.761A>G, XM_017020763.1:c.761A>G, XM_017020757.2:c.734A>G, XM_017020757.1:c.734A>G, NM_001318493.2:c.761A>G, NM_001318493.1:c.761A>G, NM_001353566.2:c.761A>G, NM_001353566.1:c.761A>G, XM_017020762.2:c.761A>G, XM_017020762.1:c.761A>G, XM_024449413.2:c.704A>G, XM_024449413.1:c.704A>G, NM_001353570.2:c.761A>G, NM_001353570.1:c.761A>G, NR_148464.2:n.840A>G, NR_148464.1:n.1181A>G, XM_024449415.2:c.761A>G, XM_024449415.1:c.761A>G, NM_001353565.2:c.761A>G, NM_001353565.1:c.761A>G, NM_001353567.2:c.761A>G, NM_001353567.1:c.761A>G, NM_001353576.2:c.761A>G, NM_001353576.1:c.761A>G, NM_001353569.2:c.761A>G, NM_001353569.1:c.761A>G, NM_001353577.2:c.761A>G, NM_001353577.1:c.761A>G, NM_001353575.2:c.677A>G, NM_001353575.1:c.677A>G, NM_001318491.2:c.677A>G, NM_001318491.1:c.677A>G, NM_001353579.2:c.101A>G, NM_001353579.1:c.101A>G, NM_001353571.2:c.734A>G, NM_001353571.1:c.734A>G, NM_001353572.2:c.734A>G, NM_001353572.1:c.734A>G, NM_001353573.2:c.677A>G, NM_001353573.1:c.677A>G, NM_001353574.2:c.677A>G, NM_001353574.1:c.677A>G, NM_001353578.2:c.734A>G, NM_001353578.1:c.734A>G, NR_148465.2:n.783A>G, NR_148465.1:n.1124A>G, XM_017020775.2:c.761A>G, XM_017020775.1:c.761A>G, XM_017020776.2:c.761A>G, XM_017020776.1:c.761A>G, XM_047430655.1:c.734A>G, XM_047430656.1:c.704A>G, XM_047430660.1:c.761A>G, XM_047430661.1:c.761A>G, XM_047430667.1:c.704A>G, XM_047430657.1:c.704A>G, XM_047430670.1:c.761A>G, XM_047430671.1:c.761A>G, XM_047430659.1:c.761A>G, XM_047430662.1:c.761A>G, XM_047430669.1:c.704A>G, XM_047430668.1:c.704A>G, XM_047430658.1:c.677A>G, XM_047430663.1:c.734A>G, XM_047430665.1:c.734A>G, XM_047430666.1:c.734A>G, XM_047430664.1:c.761A>G, XM_047430672.1:c.677A>G, XM_047430673.1:c.734A>G, XM_047430674.1:c.734A>G, XM_047430677.1:c.734A>G, XM_047430675.1:c.677A>G, XM_047430676.1:c.761A>G, XR_007063700.1:n.1168A>G, XM_047430679.1:c.761A>G, XM_047430678.1:c.734A>G, NP_783195.2:p.Lys254Arg, NP_006522.2:p.Lys245Arg, XP_006719933.1:p.Lys245Arg, NP_001340497.1:p.Lys245Arg, XP_016876252.1:p.Lys254Arg, XP_016876246.1:p.Lys245Arg, NP_001305422.1:p.Lys254Arg, NP_001340495.1:p.Lys254Arg, XP_016876251.1:p.Lys254Arg, XP_024305181.1:p.Lys235Arg, NP_001340499.1:p.Lys254Arg, XP_024305183.1:p.Lys254Arg, NP_001340494.1:p.Lys254Arg, NP_001340496.1:p.Lys254Arg, NP_001340505.1:p.Lys254Arg, NP_001340498.1:p.Lys254Arg, NP_001340506.1:p.Lys254Arg, NP_001340504.1:p.Lys226Arg, NP_001305420.1:p.Lys226Arg, NP_001340508.1:p.Lys34Arg, NP_001340500.1:p.Lys245Arg, NP_001340501.1:p.Lys245Arg, NP_001340502.1:p.Lys226Arg, NP_001340503.1:p.Lys226Arg, NP_001340507.1:p.Lys245Arg, XP_016876264.1:p.Lys254Arg, XP_016876265.1:p.Lys254Arg, XP_047286611.1:p.Lys245Arg, XP_047286612.1:p.Lys235Arg, XP_047286616.1:p.Lys254Arg, XP_047286617.1:p.Lys254Arg, XP_047286623.1:p.Lys235Arg, XP_047286613.1:p.Lys235Arg, XP_047286626.1:p.Lys254Arg, XP_047286627.1:p.Lys254Arg, XP_047286615.1:p.Lys254Arg, XP_047286618.1:p.Lys254Arg, XP_047286625.1:p.Lys235Arg, XP_047286624.1:p.Lys235Arg, XP_047286614.1:p.Lys226Arg, XP_047286619.1:p.Lys245Arg, XP_047286621.1:p.Lys245Arg, XP_047286622.1:p.Lys245Arg, XP_047286620.1:p.Lys254Arg, XP_047286628.1:p.Lys226Arg, XP_047286629.1:p.Lys245Arg, XP_047286630.1:p.Lys245Arg, XP_047286633.1:p.Lys245Arg, XP_047286631.1:p.Lys226Arg, XP_047286632.1:p.Lys254Arg, XP_047286635.1:p.Lys254Arg, XP_047286634.1:p.Lys245Arg

                          13.

                          rs1476873767 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            13:20670998 (GRCh38)
                            13:21245137 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:20670997:G:A,NC_000013.11:20670997:G:T
                            Gene:
                            IFT88 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000031/1 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000013.11:g.20670998G>A, NC_000013.11:g.20670998G>T, NC_000013.10:g.21245137G>A, NC_000013.10:g.21245137G>T, NM_175605.5:c.2228G>A, NM_175605.5:c.2228G>T, NM_175605.4:c.2228G>A, NM_175605.4:c.2228G>T, NM_175605.3:c.2228G>A, NM_175605.3:c.2228G>T, NM_006531.5:c.2201G>A, NM_006531.5:c.2201G>T, NM_006531.4:c.2201G>A, NM_006531.4:c.2201G>T, NM_006531.3:c.2201G>A, NM_006531.3:c.2201G>T, XM_006719870.4:c.2201G>A, XM_006719870.4:c.2201G>T, XM_006719870.3:c.2201G>A, XM_006719870.3:c.2201G>T, XM_006719870.2:c.2201G>A, XM_006719870.2:c.2201G>T, XM_006719870.1:c.2201G>A, XM_006719870.1:c.2201G>T, NR_134653.2:n.2759G>A, NR_134653.2:n.2759G>T, NR_134653.1:n.3100G>A, NR_134653.1:n.3100G>T, NR_148462.2:n.2698G>A, NR_148462.2:n.2698G>T, NR_148462.1:n.3039G>A, NR_148462.1:n.3039G>T, NR_148463.2:n.2692G>A, NR_148463.2:n.2692G>T, NR_148463.1:n.3033G>A, NR_148463.1:n.3033G>T, NM_001353568.2:c.2201G>A, NM_001353568.2:c.2201G>T, NM_001353568.1:c.2201G>A, NM_001353568.1:c.2201G>T, XM_017020763.2:c.2352G>A, XM_017020763.2:c.2352G>T, XM_017020763.1:c.2352G>A, XM_017020763.1:c.2352G>T, XM_017020757.2:c.2201G>A, XM_017020757.2:c.2201G>T, XM_017020757.1:c.2201G>A, XM_017020757.1:c.2201G>T, NM_001318493.2:c.2228G>A, NM_001318493.2:c.2228G>T, NM_001318493.1:c.2228G>A, NM_001318493.1:c.2228G>T, NM_001353566.2:c.2228G>A, NM_001353566.2:c.2228G>T, NM_001353566.1:c.2228G>A, NM_001353566.1:c.2228G>T, XM_017020762.2:c.2228G>A, XM_017020762.2:c.2228G>T, XM_017020762.1:c.2228G>A, XM_017020762.1:c.2228G>T, XM_024449413.2:c.2069G>A, XM_024449413.2:c.2069G>T, XM_024449413.1:c.2069G>A, XM_024449413.1:c.2069G>T, NM_001353570.2:c.2126G>A, NM_001353570.2:c.2126G>T, NM_001353570.1:c.2126G>A, NM_001353570.1:c.2126G>T, NR_148464.2:n.2431G>A, NR_148464.2:n.2431G>T, NR_148464.1:n.2772G>A, NR_148464.1:n.2772G>T, NM_001353565.2:c.2228G>A, NM_001353565.2:c.2228G>T, NM_001353565.1:c.2228G>A, NM_001353565.1:c.2228G>T, NM_001353567.2:c.2228G>A, NM_001353567.2:c.2228G>T, NM_001353567.1:c.2228G>A, NM_001353567.1:c.2228G>T, NM_001353576.2:c.2126G>A, NM_001353576.2:c.2126G>T, NM_001353576.1:c.2126G>A, NM_001353576.1:c.2126G>T, NM_001353569.2:c.2126G>A, NM_001353569.2:c.2126G>T, NM_001353569.1:c.2126G>A, NM_001353569.1:c.2126G>T, NM_001353577.2:c.2126G>A, NM_001353577.2:c.2126G>T, NM_001353577.1:c.2126G>A, NM_001353577.1:c.2126G>T, NM_001353575.2:c.2268G>A, NM_001353575.2:c.2268G>T, NM_001353575.1:c.2268G>A, NM_001353575.1:c.2268G>T, NM_001318491.2:c.2144G>A, NM_001318491.2:c.2144G>T, NM_001318491.1:c.2144G>A, NM_001318491.1:c.2144G>T, NM_001353579.2:c.1568G>A, NM_001353579.2:c.1568G>T, NM_001353579.1:c.1568G>A, NM_001353579.1:c.1568G>T, NM_001353571.2:c.2099G>A, NM_001353571.2:c.2099G>T, NM_001353571.1:c.2099G>A, NM_001353571.1:c.2099G>T, NM_001353572.2:c.2201G>A, NM_001353572.2:c.2201G>T, NM_001353572.1:c.2201G>A, NM_001353572.1:c.2201G>T, NM_001353573.2:c.2057G>A, NM_001353573.2:c.2057G>T, NM_001353573.1:c.2057G>A, NM_001353573.1:c.2057G>T, NM_001353574.2:c.2042G>A, NM_001353574.2:c.2042G>T, NM_001353574.1:c.2042G>A, NM_001353574.1:c.2042G>T, NM_001353578.2:c.2099G>A, NM_001353578.2:c.2099G>T, NM_001353578.1:c.2099G>A, NM_001353578.1:c.2099G>T, NR_148465.2:n.1811G>A, NR_148465.2:n.1811G>T, NR_148465.1:n.2152G>A, NR_148465.1:n.2152G>T, XM_047430655.1:c.2201G>A, XM_047430655.1:c.2201G>T, XM_047430656.1:c.2171G>A, XM_047430656.1:c.2171G>T, XM_047430660.1:c.2141G>A, XM_047430660.1:c.2141G>T, XM_047430661.1:c.2126G>A, XM_047430661.1:c.2126G>T, XM_047430667.1:c.2084G>A, XM_047430667.1:c.2084G>T, XM_047430657.1:c.2171G>A, XM_047430657.1:c.2171G>T, XM_047430670.1:c.2039G>A, XM_047430670.1:c.2039G>T, XM_047430671.1:c.2039G>A, XM_047430671.1:c.2039G>T, XM_047430659.1:c.2141G>A, XM_047430659.1:c.2141G>T, XM_047430662.1:c.2228G>A, XM_047430662.1:c.2228G>T, XM_047430669.1:c.2295G>A, XM_047430669.1:c.2295G>T, XM_047430668.1:c.2069G>A, XM_047430668.1:c.2069G>T, XM_047430658.1:c.2144G>A, XM_047430658.1:c.2144G>T, XM_047430663.1:c.2114G>A, XM_047430663.1:c.2114G>T, XM_047430665.1:c.2099G>A, XM_047430665.1:c.2099G>T, XM_047430666.1:c.2201G>A, XM_047430666.1:c.2201G>T, XM_047430664.1:c.2352G>A, XM_047430664.1:c.2352G>T, XM_047430672.1:c.2144G>A, XM_047430672.1:c.2144G>T, XM_047430673.1:c.2012G>A, XM_047430673.1:c.2012G>T, XM_047430674.1:c.2114G>A, XM_047430674.1:c.2114G>T, XM_047430675.1:c.1955G>A, XM_047430675.1:c.1955G>T, NP_783195.2:p.Ser743Asn, NP_783195.2:p.Ser743Ile, NP_006522.2:p.Ser734Asn, NP_006522.2:p.Ser734Ile, XP_006719933.1:p.Ser734Asn, XP_006719933.1:p.Ser734Ile, NP_001340497.1:p.Ser734Asn, NP_001340497.1:p.Ser734Ile, XP_016876252.1:p.Gln784His, XP_016876246.1:p.Ser734Asn, XP_016876246.1:p.Ser734Ile, NP_001305422.1:p.Ser743Asn, NP_001305422.1:p.Ser743Ile, NP_001340495.1:p.Ser743Asn, NP_001340495.1:p.Ser743Ile, XP_016876251.1:p.Ser743Asn, XP_016876251.1:p.Ser743Ile, XP_024305181.1:p.Ser690Asn, XP_024305181.1:p.Ser690Ile, NP_001340499.1:p.Ser709Asn, NP_001340499.1:p.Ser709Ile, NP_001340494.1:p.Ser743Asn, NP_001340494.1:p.Ser743Ile, NP_001340496.1:p.Ser743Asn, NP_001340496.1:p.Ser743Ile, NP_001340505.1:p.Ser709Asn, NP_001340505.1:p.Ser709Ile, NP_001340498.1:p.Ser709Asn, NP_001340498.1:p.Ser709Ile, NP_001340506.1:p.Ser709Asn, NP_001340506.1:p.Ser709Ile, NP_001340504.1:p.Gln756His, NP_001305420.1:p.Ser715Asn, NP_001305420.1:p.Ser715Ile, NP_001340508.1:p.Ser523Asn, NP_001340508.1:p.Ser523Ile, NP_001340500.1:p.Ser700Asn, NP_001340500.1:p.Ser700Ile, NP_001340501.1:p.Ser734Asn, NP_001340501.1:p.Ser734Ile, NP_001340502.1:p.Ser686Asn, NP_001340502.1:p.Ser686Ile, NP_001340503.1:p.Ser681Asn, NP_001340503.1:p.Ser681Ile, NP_001340507.1:p.Ser700Asn, NP_001340507.1:p.Ser700Ile, XP_047286611.1:p.Ser734Asn, XP_047286611.1:p.Ser734Ile, XP_047286612.1:p.Ser724Asn, XP_047286612.1:p.Ser724Ile, XP_047286616.1:p.Ser714Asn, XP_047286616.1:p.Ser714Ile, XP_047286617.1:p.Ser709Asn, XP_047286617.1:p.Ser709Ile, XP_047286623.1:p.Ser695Asn, XP_047286623.1:p.Ser695Ile, XP_047286613.1:p.Ser724Asn, XP_047286613.1:p.Ser724Ile, XP_047286626.1:p.Ser680Asn, XP_047286626.1:p.Ser680Ile, XP_047286627.1:p.Ser680Asn, XP_047286627.1:p.Ser680Ile, XP_047286615.1:p.Ser714Asn, XP_047286615.1:p.Ser714Ile, XP_047286618.1:p.Ser743Asn, XP_047286618.1:p.Ser743Ile, XP_047286625.1:p.Gln765His, XP_047286624.1:p.Ser690Asn, XP_047286624.1:p.Ser690Ile, XP_047286614.1:p.Ser715Asn, XP_047286614.1:p.Ser715Ile, XP_047286619.1:p.Ser705Asn, XP_047286619.1:p.Ser705Ile, XP_047286621.1:p.Ser700Asn, XP_047286621.1:p.Ser700Ile, XP_047286622.1:p.Ser734Asn, XP_047286622.1:p.Ser734Ile, XP_047286620.1:p.Gln784His, XP_047286628.1:p.Ser715Asn, XP_047286628.1:p.Ser715Ile, XP_047286629.1:p.Ser671Asn, XP_047286629.1:p.Ser671Ile, XP_047286630.1:p.Ser705Asn, XP_047286630.1:p.Ser705Ile, XP_047286631.1:p.Ser652Asn, XP_047286631.1:p.Ser652Ile

                            14.

                            rs1474706850 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              13:20625814 (GRCh38)
                              13:21199953 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:20625813:G:A
                              Gene:
                              IFT88 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
                              HGVS:
                              NC_000013.11:g.20625814G>A, NC_000013.10:g.21199953G>A, NM_175605.5:c.1291G>A, NM_175605.4:c.1291G>A, NM_175605.3:c.1291G>A, NM_006531.5:c.1264G>A, NM_006531.4:c.1264G>A, NM_006531.3:c.1264G>A, XM_006719870.4:c.1264G>A, XM_006719870.3:c.1264G>A, XM_006719870.2:c.1264G>A, XM_006719870.1:c.1264G>A, NR_134653.2:n.1698G>A, NR_134653.1:n.2039G>A, NR_148462.2:n.1599G>A, NR_148462.1:n.1940G>A, NR_148463.2:n.1533G>A, NR_148463.1:n.1874G>A, NM_001353568.2:c.1264G>A, NM_001353568.1:c.1264G>A, XM_017020763.2:c.1291G>A, XM_017020763.1:c.1291G>A, XM_017020757.2:c.1264G>A, XM_017020757.1:c.1264G>A, NM_001318493.2:c.1291G>A, NM_001318493.1:c.1291G>A, NM_001353566.2:c.1291G>A, NM_001353566.1:c.1291G>A, XM_017020762.2:c.1291G>A, XM_017020762.1:c.1291G>A, XM_024449413.2:c.1132G>A, XM_024449413.1:c.1132G>A, NM_001353570.2:c.1189G>A, NM_001353570.1:c.1189G>A, NR_148464.2:n.1370G>A, NR_148464.1:n.1711G>A, NM_001353565.2:c.1291G>A, NM_001353565.1:c.1291G>A, NM_001353567.2:c.1291G>A, NM_001353567.1:c.1291G>A, NM_001353576.2:c.1189G>A, NM_001353576.1:c.1189G>A, NM_001353569.2:c.1189G>A, NM_001353569.1:c.1189G>A, NM_001353577.2:c.1189G>A, NM_001353577.1:c.1189G>A, NM_001353575.2:c.1207G>A, NM_001353575.1:c.1207G>A, NM_001318491.2:c.1207G>A, NM_001318491.1:c.1207G>A, NM_001353579.2:c.631G>A, NM_001353579.1:c.631G>A, NM_001353571.2:c.1162G>A, NM_001353571.1:c.1162G>A, NM_001353572.2:c.1264G>A, NM_001353572.1:c.1264G>A, NM_001353573.2:c.1120G>A, NM_001353573.1:c.1120G>A, NM_001353574.2:c.1105G>A, NM_001353574.1:c.1105G>A, NM_001353578.2:c.1162G>A, NM_001353578.1:c.1162G>A, NR_148465.2:n.1313G>A, NR_148465.1:n.1654G>A, XM_017020775.2:c.1291G>A, XM_017020775.1:c.1291G>A, XM_047430655.1:c.1264G>A, XM_047430656.1:c.1234G>A, XM_047430660.1:c.1204G>A, XM_047430661.1:c.1189G>A, XM_047430667.1:c.1147G>A, XM_047430657.1:c.1234G>A, XM_047430670.1:c.1102G>A, XM_047430671.1:c.1102G>A, XM_047430659.1:c.1204G>A, XM_047430662.1:c.1291G>A, XM_047430669.1:c.1234G>A, XM_047430668.1:c.1132G>A, XM_047430658.1:c.1207G>A, XM_047430663.1:c.1177G>A, XM_047430665.1:c.1162G>A, XM_047430666.1:c.1264G>A, XM_047430664.1:c.1291G>A, XM_047430672.1:c.1207G>A, XM_047430673.1:c.1075G>A, XM_047430674.1:c.1177G>A, XM_047430675.1:c.1018G>A, XM_047430676.1:c.1291G>A, XR_007063700.1:n.1698G>A, NP_783195.2:p.Ala431Thr, NP_006522.2:p.Ala422Thr, XP_006719933.1:p.Ala422Thr, NP_001340497.1:p.Ala422Thr, XP_016876252.1:p.Ala431Thr, XP_016876246.1:p.Ala422Thr, NP_001305422.1:p.Ala431Thr, NP_001340495.1:p.Ala431Thr, XP_016876251.1:p.Ala431Thr, XP_024305181.1:p.Ala378Thr, NP_001340499.1:p.Ala397Thr, NP_001340494.1:p.Ala431Thr, NP_001340496.1:p.Ala431Thr, NP_001340505.1:p.Ala397Thr, NP_001340498.1:p.Ala397Thr, NP_001340506.1:p.Ala397Thr, NP_001340504.1:p.Ala403Thr, NP_001305420.1:p.Ala403Thr, NP_001340508.1:p.Ala211Thr, NP_001340500.1:p.Ala388Thr, NP_001340501.1:p.Ala422Thr, NP_001340502.1:p.Ala374Thr, NP_001340503.1:p.Ala369Thr, NP_001340507.1:p.Ala388Thr, XP_016876264.1:p.Ala431Thr, XP_047286611.1:p.Ala422Thr, XP_047286612.1:p.Ala412Thr, XP_047286616.1:p.Ala402Thr, XP_047286617.1:p.Ala397Thr, XP_047286623.1:p.Ala383Thr, XP_047286613.1:p.Ala412Thr, XP_047286626.1:p.Ala368Thr, XP_047286627.1:p.Ala368Thr, XP_047286615.1:p.Ala402Thr, XP_047286618.1:p.Ala431Thr, XP_047286625.1:p.Ala412Thr, XP_047286624.1:p.Ala378Thr, XP_047286614.1:p.Ala403Thr, XP_047286619.1:p.Ala393Thr, XP_047286621.1:p.Ala388Thr, XP_047286622.1:p.Ala422Thr, XP_047286620.1:p.Ala431Thr, XP_047286628.1:p.Ala403Thr, XP_047286629.1:p.Ala359Thr, XP_047286630.1:p.Ala393Thr, XP_047286631.1:p.Ala340Thr, XP_047286632.1:p.Ala431Thr

                              15.

                              rs1474573713 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                13:20599493 (GRCh38)
                                13:21173632 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:20599492:G:T
                                Gene:
                                IFT88 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000013.11:g.20599493G>T, NC_000013.10:g.21173632G>T, NM_175605.5:c.767G>T, NM_175605.4:c.767G>T, NM_175605.3:c.767G>T, NM_006531.5:c.740G>T, NM_006531.4:c.740G>T, NM_006531.3:c.740G>T, XM_006719870.4:c.740G>T, XM_006719870.3:c.740G>T, XM_006719870.2:c.740G>T, XM_006719870.1:c.740G>T, NR_134653.2:n.1174G>T, NR_134653.1:n.1515G>T, NR_148462.2:n.1075G>T, NR_148462.1:n.1416G>T, NR_148463.2:n.1009G>T, NR_148463.1:n.1350G>T, NM_001353568.2:c.740G>T, NM_001353568.1:c.740G>T, XM_017020763.2:c.767G>T, XM_017020763.1:c.767G>T, XM_017020757.2:c.740G>T, XM_017020757.1:c.740G>T, NM_001318493.2:c.767G>T, NM_001318493.1:c.767G>T, NM_001353566.2:c.767G>T, NM_001353566.1:c.767G>T, XM_017020762.2:c.767G>T, XM_017020762.1:c.767G>T, XM_024449413.2:c.710G>T, XM_024449413.1:c.710G>T, NM_001353570.2:c.767G>T, NM_001353570.1:c.767G>T, NR_148464.2:n.846G>T, NR_148464.1:n.1187G>T, XM_024449415.2:c.767G>T, XM_024449415.1:c.767G>T, NM_001353565.2:c.767G>T, NM_001353565.1:c.767G>T, NM_001353567.2:c.767G>T, NM_001353567.1:c.767G>T, NM_001353576.2:c.767G>T, NM_001353576.1:c.767G>T, NM_001353569.2:c.767G>T, NM_001353569.1:c.767G>T, NM_001353577.2:c.767G>T, NM_001353577.1:c.767G>T, NM_001353575.2:c.683G>T, NM_001353575.1:c.683G>T, NM_001318491.2:c.683G>T, NM_001318491.1:c.683G>T, NM_001353579.2:c.107G>T, NM_001353579.1:c.107G>T, NM_001353571.2:c.740G>T, NM_001353571.1:c.740G>T, NM_001353572.2:c.740G>T, NM_001353572.1:c.740G>T, NM_001353573.2:c.683G>T, NM_001353573.1:c.683G>T, NM_001353574.2:c.683G>T, NM_001353574.1:c.683G>T, NM_001353578.2:c.740G>T, NM_001353578.1:c.740G>T, NR_148465.2:n.789G>T, NR_148465.1:n.1130G>T, XM_017020775.2:c.767G>T, XM_017020775.1:c.767G>T, XM_017020776.2:c.767G>T, XM_017020776.1:c.767G>T, XM_047430655.1:c.740G>T, XM_047430656.1:c.710G>T, XM_047430660.1:c.767G>T, XM_047430661.1:c.767G>T, XM_047430667.1:c.710G>T, XM_047430657.1:c.710G>T, XM_047430670.1:c.767G>T, XM_047430671.1:c.767G>T, XM_047430659.1:c.767G>T, XM_047430662.1:c.767G>T, XM_047430669.1:c.710G>T, XM_047430668.1:c.710G>T, XM_047430658.1:c.683G>T, XM_047430663.1:c.740G>T, XM_047430665.1:c.740G>T, XM_047430666.1:c.740G>T, XM_047430664.1:c.767G>T, XM_047430672.1:c.683G>T, XM_047430673.1:c.740G>T, XM_047430674.1:c.740G>T, XM_047430677.1:c.740G>T, XM_047430675.1:c.683G>T, XM_047430676.1:c.767G>T, XR_007063700.1:n.1174G>T, XM_047430679.1:c.767G>T, XM_047430678.1:c.740G>T, NP_783195.2:p.Arg256Ile, NP_006522.2:p.Arg247Ile, XP_006719933.1:p.Arg247Ile, NP_001340497.1:p.Arg247Ile, XP_016876252.1:p.Arg256Ile, XP_016876246.1:p.Arg247Ile, NP_001305422.1:p.Arg256Ile, NP_001340495.1:p.Arg256Ile, XP_016876251.1:p.Arg256Ile, XP_024305181.1:p.Arg237Ile, NP_001340499.1:p.Arg256Ile, XP_024305183.1:p.Arg256Ile, NP_001340494.1:p.Arg256Ile, NP_001340496.1:p.Arg256Ile, NP_001340505.1:p.Arg256Ile, NP_001340498.1:p.Arg256Ile, NP_001340506.1:p.Arg256Ile, NP_001340504.1:p.Arg228Ile, NP_001305420.1:p.Arg228Ile, NP_001340508.1:p.Arg36Ile, NP_001340500.1:p.Arg247Ile, NP_001340501.1:p.Arg247Ile, NP_001340502.1:p.Arg228Ile, NP_001340503.1:p.Arg228Ile, NP_001340507.1:p.Arg247Ile, XP_016876264.1:p.Arg256Ile, XP_016876265.1:p.Arg256Ile, XP_047286611.1:p.Arg247Ile, XP_047286612.1:p.Arg237Ile, XP_047286616.1:p.Arg256Ile, XP_047286617.1:p.Arg256Ile, XP_047286623.1:p.Arg237Ile, XP_047286613.1:p.Arg237Ile, XP_047286626.1:p.Arg256Ile, XP_047286627.1:p.Arg256Ile, XP_047286615.1:p.Arg256Ile, XP_047286618.1:p.Arg256Ile, XP_047286625.1:p.Arg237Ile, XP_047286624.1:p.Arg237Ile, XP_047286614.1:p.Arg228Ile, XP_047286619.1:p.Arg247Ile, XP_047286621.1:p.Arg247Ile, XP_047286622.1:p.Arg247Ile, XP_047286620.1:p.Arg256Ile, XP_047286628.1:p.Arg228Ile, XP_047286629.1:p.Arg247Ile, XP_047286630.1:p.Arg247Ile, XP_047286633.1:p.Arg247Ile, XP_047286631.1:p.Arg228Ile, XP_047286632.1:p.Arg256Ile, XP_047286635.1:p.Arg256Ile, XP_047286634.1:p.Arg247Ile

                                16.

                                rs1473050785 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  13:20625833 (GRCh38)
                                  13:21199972 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:20625832:A:G
                                  Gene:
                                  IFT88 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000013.11:g.20625833A>G, NC_000013.10:g.21199972A>G, NM_175605.5:c.1310A>G, NM_175605.4:c.1310A>G, NM_175605.3:c.1310A>G, NM_006531.5:c.1283A>G, NM_006531.4:c.1283A>G, NM_006531.3:c.1283A>G, XM_006719870.4:c.1283A>G, XM_006719870.3:c.1283A>G, XM_006719870.2:c.1283A>G, XM_006719870.1:c.1283A>G, NR_134653.2:n.1717A>G, NR_134653.1:n.2058A>G, NR_148462.2:n.1618A>G, NR_148462.1:n.1959A>G, NR_148463.2:n.1552A>G, NR_148463.1:n.1893A>G, NM_001353568.2:c.1283A>G, NM_001353568.1:c.1283A>G, XM_017020763.2:c.1310A>G, XM_017020763.1:c.1310A>G, XM_017020757.2:c.1283A>G, XM_017020757.1:c.1283A>G, NM_001318493.2:c.1310A>G, NM_001318493.1:c.1310A>G, NM_001353566.2:c.1310A>G, NM_001353566.1:c.1310A>G, XM_017020762.2:c.1310A>G, XM_017020762.1:c.1310A>G, XM_024449413.2:c.1151A>G, XM_024449413.1:c.1151A>G, NM_001353570.2:c.1208A>G, NM_001353570.1:c.1208A>G, NR_148464.2:n.1389A>G, NR_148464.1:n.1730A>G, NM_001353565.2:c.1310A>G, NM_001353565.1:c.1310A>G, NM_001353567.2:c.1310A>G, NM_001353567.1:c.1310A>G, NM_001353576.2:c.1208A>G, NM_001353576.1:c.1208A>G, NM_001353569.2:c.1208A>G, NM_001353569.1:c.1208A>G, NM_001353577.2:c.1208A>G, NM_001353577.1:c.1208A>G, NM_001353575.2:c.1226A>G, NM_001353575.1:c.1226A>G, NM_001318491.2:c.1226A>G, NM_001318491.1:c.1226A>G, NM_001353579.2:c.650A>G, NM_001353579.1:c.650A>G, NM_001353571.2:c.1181A>G, NM_001353571.1:c.1181A>G, NM_001353572.2:c.1283A>G, NM_001353572.1:c.1283A>G, NM_001353573.2:c.1139A>G, NM_001353573.1:c.1139A>G, NM_001353574.2:c.1124A>G, NM_001353574.1:c.1124A>G, NM_001353578.2:c.1181A>G, NM_001353578.1:c.1181A>G, NR_148465.2:n.1332A>G, NR_148465.1:n.1673A>G, XM_017020775.2:c.1310A>G, XM_017020775.1:c.1310A>G, XM_047430655.1:c.1283A>G, XM_047430656.1:c.1253A>G, XM_047430660.1:c.1223A>G, XM_047430661.1:c.1208A>G, XM_047430667.1:c.1166A>G, XM_047430657.1:c.1253A>G, XM_047430670.1:c.1121A>G, XM_047430671.1:c.1121A>G, XM_047430659.1:c.1223A>G, XM_047430662.1:c.1310A>G, XM_047430669.1:c.1253A>G, XM_047430668.1:c.1151A>G, XM_047430658.1:c.1226A>G, XM_047430663.1:c.1196A>G, XM_047430665.1:c.1181A>G, XM_047430666.1:c.1283A>G, XM_047430664.1:c.1310A>G, XM_047430672.1:c.1226A>G, XM_047430673.1:c.1094A>G, XM_047430674.1:c.1196A>G, XM_047430675.1:c.1037A>G, XM_047430676.1:c.1310A>G, XR_007063700.1:n.1717A>G, NP_783195.2:p.Gln437Arg, NP_006522.2:p.Gln428Arg, XP_006719933.1:p.Gln428Arg, NP_001340497.1:p.Gln428Arg, XP_016876252.1:p.Gln437Arg, XP_016876246.1:p.Gln428Arg, NP_001305422.1:p.Gln437Arg, NP_001340495.1:p.Gln437Arg, XP_016876251.1:p.Gln437Arg, XP_024305181.1:p.Gln384Arg, NP_001340499.1:p.Gln403Arg, NP_001340494.1:p.Gln437Arg, NP_001340496.1:p.Gln437Arg, NP_001340505.1:p.Gln403Arg, NP_001340498.1:p.Gln403Arg, NP_001340506.1:p.Gln403Arg, NP_001340504.1:p.Gln409Arg, NP_001305420.1:p.Gln409Arg, NP_001340508.1:p.Gln217Arg, NP_001340500.1:p.Gln394Arg, NP_001340501.1:p.Gln428Arg, NP_001340502.1:p.Gln380Arg, NP_001340503.1:p.Gln375Arg, NP_001340507.1:p.Gln394Arg, XP_016876264.1:p.Gln437Arg, XP_047286611.1:p.Gln428Arg, XP_047286612.1:p.Gln418Arg, XP_047286616.1:p.Gln408Arg, XP_047286617.1:p.Gln403Arg, XP_047286623.1:p.Gln389Arg, XP_047286613.1:p.Gln418Arg, XP_047286626.1:p.Gln374Arg, XP_047286627.1:p.Gln374Arg, XP_047286615.1:p.Gln408Arg, XP_047286618.1:p.Gln437Arg, XP_047286625.1:p.Gln418Arg, XP_047286624.1:p.Gln384Arg, XP_047286614.1:p.Gln409Arg, XP_047286619.1:p.Gln399Arg, XP_047286621.1:p.Gln394Arg, XP_047286622.1:p.Gln428Arg, XP_047286620.1:p.Gln437Arg, XP_047286628.1:p.Gln409Arg, XP_047286629.1:p.Gln365Arg, XP_047286630.1:p.Gln399Arg, XP_047286631.1:p.Gln346Arg, XP_047286632.1:p.Gln437Arg

                                  17.

                                  rs1472259377 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    13:20656368 (GRCh38)
                                    13:21230507 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:20656367:A:G
                                    Gene:
                                    IFT88 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000013.11:g.20656368A>G, NC_000013.10:g.21230507A>G, NM_175605.5:c.2033A>G, NM_175605.4:c.2033A>G, NM_175605.3:c.2033A>G, NM_006531.5:c.2006A>G, NM_006531.4:c.2006A>G, NM_006531.3:c.2006A>G, XM_006719870.4:c.2006A>G, XM_006719870.3:c.2006A>G, XM_006719870.2:c.2006A>G, XM_006719870.1:c.2006A>G, NR_134653.2:n.2440A>G, NR_134653.1:n.2781A>G, NR_148462.2:n.2341A>G, NR_148462.1:n.2682A>G, NR_148463.2:n.2373A>G, NR_148463.1:n.2714A>G, NM_001353568.2:c.2006A>G, NM_001353568.1:c.2006A>G, XM_017020763.2:c.2033A>G, XM_017020763.1:c.2033A>G, XM_017020757.2:c.2006A>G, XM_017020757.1:c.2006A>G, NM_001318493.2:c.2033A>G, NM_001318493.1:c.2033A>G, NM_001353566.2:c.2033A>G, NM_001353566.1:c.2033A>G, XM_017020762.2:c.2033A>G, XM_017020762.1:c.2033A>G, XM_024449413.2:c.1874A>G, XM_024449413.1:c.1874A>G, NM_001353570.2:c.1931A>G, NM_001353570.1:c.1931A>G, NR_148464.2:n.2112A>G, NR_148464.1:n.2453A>G, NM_001353565.2:c.2033A>G, NM_001353565.1:c.2033A>G, NM_001353567.2:c.2033A>G, NM_001353567.1:c.2033A>G, NM_001353576.2:c.1931A>G, NM_001353576.1:c.1931A>G, NM_001353569.2:c.1931A>G, NM_001353569.1:c.1931A>G, NM_001353577.2:c.1931A>G, NM_001353577.1:c.1931A>G, NM_001353575.2:c.1949A>G, NM_001353575.1:c.1949A>G, NM_001318491.2:c.1949A>G, NM_001318491.1:c.1949A>G, NM_001353579.2:c.1373A>G, NM_001353579.1:c.1373A>G, NM_001353571.2:c.1904A>G, NM_001353571.1:c.1904A>G, NM_001353572.2:c.2006A>G, NM_001353572.1:c.2006A>G, NM_001353573.2:c.1862A>G, NM_001353573.1:c.1862A>G, NM_001353574.2:c.1847A>G, NM_001353574.1:c.1847A>G, NM_001353578.2:c.1904A>G, NM_001353578.1:c.1904A>G, NR_148465.2:n.1492A>G, NR_148465.1:n.1833A>G, XM_047430655.1:c.2006A>G, XM_047430656.1:c.1976A>G, XM_047430660.1:c.1946A>G, XM_047430661.1:c.1931A>G, XM_047430667.1:c.1889A>G, XM_047430657.1:c.1976A>G, XM_047430670.1:c.1844A>G, XM_047430671.1:c.1844A>G, XM_047430659.1:c.1946A>G, XM_047430662.1:c.2033A>G, XM_047430669.1:c.1976A>G, XM_047430668.1:c.1874A>G, XM_047430658.1:c.1949A>G, XM_047430663.1:c.1919A>G, XM_047430665.1:c.1904A>G, XM_047430666.1:c.2006A>G, XM_047430664.1:c.2033A>G, XM_047430672.1:c.1949A>G, XM_047430673.1:c.1817A>G, XM_047430674.1:c.1919A>G, XM_047430675.1:c.1760A>G, XM_047430676.1:c.2033A>G, XR_007063700.1:n.1877A>G, NP_783195.2:p.Asn678Ser, NP_006522.2:p.Asn669Ser, XP_006719933.1:p.Asn669Ser, NP_001340497.1:p.Asn669Ser, XP_016876252.1:p.Asn678Ser, XP_016876246.1:p.Asn669Ser, NP_001305422.1:p.Asn678Ser, NP_001340495.1:p.Asn678Ser, XP_016876251.1:p.Asn678Ser, XP_024305181.1:p.Asn625Ser, NP_001340499.1:p.Asn644Ser, NP_001340494.1:p.Asn678Ser, NP_001340496.1:p.Asn678Ser, NP_001340505.1:p.Asn644Ser, NP_001340498.1:p.Asn644Ser, NP_001340506.1:p.Asn644Ser, NP_001340504.1:p.Asn650Ser, NP_001305420.1:p.Asn650Ser, NP_001340508.1:p.Asn458Ser, NP_001340500.1:p.Asn635Ser, NP_001340501.1:p.Asn669Ser, NP_001340502.1:p.Asn621Ser, NP_001340503.1:p.Asn616Ser, NP_001340507.1:p.Asn635Ser, XP_047286611.1:p.Asn669Ser, XP_047286612.1:p.Asn659Ser, XP_047286616.1:p.Asn649Ser, XP_047286617.1:p.Asn644Ser, XP_047286623.1:p.Asn630Ser, XP_047286613.1:p.Asn659Ser, XP_047286626.1:p.Asn615Ser, XP_047286627.1:p.Asn615Ser, XP_047286615.1:p.Asn649Ser, XP_047286618.1:p.Asn678Ser, XP_047286625.1:p.Asn659Ser, XP_047286624.1:p.Asn625Ser, XP_047286614.1:p.Asn650Ser, XP_047286619.1:p.Asn640Ser, XP_047286621.1:p.Asn635Ser, XP_047286622.1:p.Asn669Ser, XP_047286620.1:p.Asn678Ser, XP_047286628.1:p.Asn650Ser, XP_047286629.1:p.Asn606Ser, XP_047286630.1:p.Asn640Ser, XP_047286631.1:p.Asn587Ser, XP_047286632.1:p.Asn678Ser

                                    18.

                                    rs1468552090 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      13:20605047 (GRCh38)
                                      13:21179186 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:20605046:A:G
                                      Gene:
                                      IFT88 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000028/1 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000013.11:g.20605047A>G, NC_000013.10:g.21179186A>G, NM_175605.5:c.1081A>G, NM_175605.4:c.1081A>G, NM_175605.3:c.1081A>G, NM_006531.5:c.1054A>G, NM_006531.4:c.1054A>G, NM_006531.3:c.1054A>G, XM_006719870.4:c.1054A>G, XM_006719870.3:c.1054A>G, XM_006719870.2:c.1054A>G, XM_006719870.1:c.1054A>G, NR_134653.2:n.1488A>G, NR_134653.1:n.1829A>G, NR_148462.2:n.1389A>G, NR_148462.1:n.1730A>G, NR_148463.2:n.1323A>G, NR_148463.1:n.1664A>G, NM_001353568.2:c.1054A>G, NM_001353568.1:c.1054A>G, XM_017020763.2:c.1081A>G, XM_017020763.1:c.1081A>G, XM_017020757.2:c.1054A>G, XM_017020757.1:c.1054A>G, NM_001318493.2:c.1081A>G, NM_001318493.1:c.1081A>G, NM_001353566.2:c.1081A>G, NM_001353566.1:c.1081A>G, XM_017020762.2:c.1081A>G, XM_017020762.1:c.1081A>G, XM_024449413.2:c.922A>G, XM_024449413.1:c.922A>G, NM_001353570.2:c.979A>G, NM_001353570.1:c.979A>G, NR_148464.2:n.1160A>G, NR_148464.1:n.1501A>G, XM_024449415.2:c.1081A>G, XM_024449415.1:c.1081A>G, NM_001353565.2:c.1081A>G, NM_001353565.1:c.1081A>G, NM_001353567.2:c.1081A>G, NM_001353567.1:c.1081A>G, NM_001353576.2:c.979A>G, NM_001353576.1:c.979A>G, NM_001353569.2:c.979A>G, NM_001353569.1:c.979A>G, NM_001353577.2:c.979A>G, NM_001353577.1:c.979A>G, NM_001353575.2:c.997A>G, NM_001353575.1:c.997A>G, NM_001318491.2:c.997A>G, NM_001318491.1:c.997A>G, NM_001353579.2:c.421A>G, NM_001353579.1:c.421A>G, NM_001353571.2:c.952A>G, NM_001353571.1:c.952A>G, NM_001353572.2:c.1054A>G, NM_001353572.1:c.1054A>G, NM_001353573.2:c.997A>G, NM_001353573.1:c.997A>G, NM_001353574.2:c.895A>G, NM_001353574.1:c.895A>G, NM_001353578.2:c.952A>G, NM_001353578.1:c.952A>G, NR_148465.2:n.1103A>G, NR_148465.1:n.1444A>G, XM_017020775.2:c.1081A>G, XM_017020775.1:c.1081A>G, XM_017020776.2:c.1081A>G, XM_017020776.1:c.1081A>G, XM_047430655.1:c.1054A>G, XM_047430656.1:c.1024A>G, XM_047430660.1:c.1081A>G, XM_047430661.1:c.979A>G, XM_047430667.1:c.1024A>G, XM_047430657.1:c.1024A>G, XM_047430670.1:c.979A>G, XM_047430671.1:c.979A>G, XM_047430659.1:c.1081A>G, XM_047430662.1:c.1081A>G, XM_047430669.1:c.1024A>G, XM_047430668.1:c.922A>G, XM_047430658.1:c.997A>G, XM_047430663.1:c.1054A>G, XM_047430665.1:c.952A>G, XM_047430666.1:c.1054A>G, XM_047430664.1:c.1081A>G, XM_047430672.1:c.997A>G, XM_047430673.1:c.952A>G, XM_047430674.1:c.1054A>G, XM_047430677.1:c.1054A>G, XM_047430675.1:c.895A>G, XM_047430676.1:c.1081A>G, XR_007063700.1:n.1488A>G, XM_047430679.1:c.979A>G, XM_047430678.1:c.1054A>G, NP_783195.2:p.Thr361Ala, NP_006522.2:p.Thr352Ala, XP_006719933.1:p.Thr352Ala, NP_001340497.1:p.Thr352Ala, XP_016876252.1:p.Thr361Ala, XP_016876246.1:p.Thr352Ala, NP_001305422.1:p.Thr361Ala, NP_001340495.1:p.Thr361Ala, XP_016876251.1:p.Thr361Ala, XP_024305181.1:p.Thr308Ala, NP_001340499.1:p.Thr327Ala, XP_024305183.1:p.Thr361Ala, NP_001340494.1:p.Thr361Ala, NP_001340496.1:p.Thr361Ala, NP_001340505.1:p.Thr327Ala, NP_001340498.1:p.Thr327Ala, NP_001340506.1:p.Thr327Ala, NP_001340504.1:p.Thr333Ala, NP_001305420.1:p.Thr333Ala, NP_001340508.1:p.Thr141Ala, NP_001340500.1:p.Thr318Ala, NP_001340501.1:p.Thr352Ala, NP_001340502.1:p.Thr333Ala, NP_001340503.1:p.Thr299Ala, NP_001340507.1:p.Thr318Ala, XP_016876264.1:p.Thr361Ala, XP_016876265.1:p.Thr361Ala, XP_047286611.1:p.Thr352Ala, XP_047286612.1:p.Thr342Ala, XP_047286616.1:p.Thr361Ala, XP_047286617.1:p.Thr327Ala, XP_047286623.1:p.Thr342Ala, XP_047286613.1:p.Thr342Ala, XP_047286626.1:p.Thr327Ala, XP_047286627.1:p.Thr327Ala, XP_047286615.1:p.Thr361Ala, XP_047286618.1:p.Thr361Ala, XP_047286625.1:p.Thr342Ala, XP_047286624.1:p.Thr308Ala, XP_047286614.1:p.Thr333Ala, XP_047286619.1:p.Thr352Ala, XP_047286621.1:p.Thr318Ala, XP_047286622.1:p.Thr352Ala, XP_047286620.1:p.Thr361Ala, XP_047286628.1:p.Thr333Ala, XP_047286629.1:p.Thr318Ala, XP_047286630.1:p.Thr352Ala, XP_047286633.1:p.Thr352Ala, XP_047286631.1:p.Thr299Ala, XP_047286632.1:p.Thr361Ala, XP_047286635.1:p.Thr327Ala, XP_047286634.1:p.Thr352Ala

                                      19.

                                      rs1467465376 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        13:20601894 (GRCh38)
                                        13:21176033 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:20601893:T:G
                                        Gene:
                                        IFT88 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000013.11:g.20601894T>G, NC_000013.10:g.21176033T>G, NM_175605.5:c.1029T>G, NM_175605.4:c.1029T>G, NM_175605.3:c.1029T>G, NM_006531.5:c.1002T>G, NM_006531.4:c.1002T>G, NM_006531.3:c.1002T>G, XM_006719870.4:c.1002T>G, XM_006719870.3:c.1002T>G, XM_006719870.2:c.1002T>G, XM_006719870.1:c.1002T>G, NR_134653.2:n.1436T>G, NR_134653.1:n.1777T>G, NR_148462.2:n.1337T>G, NR_148462.1:n.1678T>G, NR_148463.2:n.1271T>G, NR_148463.1:n.1612T>G, NM_001353568.2:c.1002T>G, NM_001353568.1:c.1002T>G, XM_017020763.2:c.1029T>G, XM_017020763.1:c.1029T>G, XM_017020757.2:c.1002T>G, XM_017020757.1:c.1002T>G, NM_001318493.2:c.1029T>G, NM_001318493.1:c.1029T>G, NM_001353566.2:c.1029T>G, NM_001353566.1:c.1029T>G, XM_017020762.2:c.1029T>G, XM_017020762.1:c.1029T>G, XM_024449413.2:c.870T>G, XM_024449413.1:c.870T>G, NM_001353570.2:c.927T>G, NM_001353570.1:c.927T>G, NR_148464.2:n.1108T>G, NR_148464.1:n.1449T>G, XM_024449415.2:c.1029T>G, XM_024449415.1:c.1029T>G, NM_001353565.2:c.1029T>G, NM_001353565.1:c.1029T>G, NM_001353567.2:c.1029T>G, NM_001353567.1:c.1029T>G, NM_001353576.2:c.927T>G, NM_001353576.1:c.927T>G, NM_001353569.2:c.927T>G, NM_001353569.1:c.927T>G, NM_001353577.2:c.927T>G, NM_001353577.1:c.927T>G, NM_001353575.2:c.945T>G, NM_001353575.1:c.945T>G, NM_001318491.2:c.945T>G, NM_001318491.1:c.945T>G, NM_001353579.2:c.369T>G, NM_001353579.1:c.369T>G, NM_001353571.2:c.900T>G, NM_001353571.1:c.900T>G, NM_001353572.2:c.1002T>G, NM_001353572.1:c.1002T>G, NM_001353573.2:c.945T>G, NM_001353573.1:c.945T>G, NM_001353574.2:c.843T>G, NM_001353574.1:c.843T>G, NM_001353578.2:c.900T>G, NM_001353578.1:c.900T>G, NR_148465.2:n.1051T>G, NR_148465.1:n.1392T>G, XM_017020775.2:c.1029T>G, XM_017020775.1:c.1029T>G, XM_017020776.2:c.1029T>G, XM_017020776.1:c.1029T>G, XM_047430655.1:c.1002T>G, XM_047430656.1:c.972T>G, XM_047430660.1:c.1029T>G, XM_047430661.1:c.927T>G, XM_047430667.1:c.972T>G, XM_047430657.1:c.972T>G, XM_047430670.1:c.927T>G, XM_047430671.1:c.927T>G, XM_047430659.1:c.1029T>G, XM_047430662.1:c.1029T>G, XM_047430669.1:c.972T>G, XM_047430668.1:c.870T>G, XM_047430658.1:c.945T>G, XM_047430663.1:c.1002T>G, XM_047430665.1:c.900T>G, XM_047430666.1:c.1002T>G, XM_047430664.1:c.1029T>G, XM_047430672.1:c.945T>G, XM_047430673.1:c.900T>G, XM_047430674.1:c.1002T>G, XM_047430677.1:c.1002T>G, XM_047430675.1:c.843T>G, XM_047430676.1:c.1029T>G, XR_007063700.1:n.1436T>G, XM_047430679.1:c.927T>G, XM_047430678.1:c.1002T>G

                                        20.

                                        rs1466602621 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          13:20601742 (GRCh38)
                                          13:21175881 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:20601741:C:T
                                          Gene:
                                          IFT88 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,stop_gained,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000013.11:g.20601742C>T, NC_000013.10:g.21175881C>T, NM_175605.5:c.877C>T, NM_175605.4:c.877C>T, NM_175605.3:c.877C>T, NM_006531.5:c.850C>T, NM_006531.4:c.850C>T, NM_006531.3:c.850C>T, XM_006719870.4:c.850C>T, XM_006719870.3:c.850C>T, XM_006719870.2:c.850C>T, XM_006719870.1:c.850C>T, NR_134653.2:n.1284C>T, NR_134653.1:n.1625C>T, NR_148462.2:n.1185C>T, NR_148462.1:n.1526C>T, NR_148463.2:n.1119C>T, NR_148463.1:n.1460C>T, NM_001353568.2:c.850C>T, NM_001353568.1:c.850C>T, XM_017020763.2:c.877C>T, XM_017020763.1:c.877C>T, XM_017020757.2:c.850C>T, XM_017020757.1:c.850C>T, NM_001318493.2:c.877C>T, NM_001318493.1:c.877C>T, NM_001353566.2:c.877C>T, NM_001353566.1:c.877C>T, XM_017020762.2:c.877C>T, XM_017020762.1:c.877C>T, XM_024449413.2:c.820C>T, XM_024449413.1:c.820C>T, NM_001353570.2:c.877C>T, NM_001353570.1:c.877C>T, NR_148464.2:n.956C>T, NR_148464.1:n.1297C>T, XM_024449415.2:c.877C>T, XM_024449415.1:c.877C>T, NM_001353565.2:c.877C>T, NM_001353565.1:c.877C>T, NM_001353567.2:c.877C>T, NM_001353567.1:c.877C>T, NM_001353576.2:c.877C>T, NM_001353576.1:c.877C>T, NM_001353569.2:c.877C>T, NM_001353569.1:c.877C>T, NM_001353577.2:c.877C>T, NM_001353577.1:c.877C>T, NM_001353575.2:c.793C>T, NM_001353575.1:c.793C>T, NM_001318491.2:c.793C>T, NM_001318491.1:c.793C>T, NM_001353579.2:c.217C>T, NM_001353579.1:c.217C>T, NM_001353571.2:c.850C>T, NM_001353571.1:c.850C>T, NM_001353572.2:c.850C>T, NM_001353572.1:c.850C>T, NM_001353573.2:c.793C>T, NM_001353573.1:c.793C>T, NM_001353574.2:c.793C>T, NM_001353574.1:c.793C>T, NM_001353578.2:c.850C>T, NM_001353578.1:c.850C>T, NR_148465.2:n.899C>T, NR_148465.1:n.1240C>T, XM_017020775.2:c.877C>T, XM_017020775.1:c.877C>T, XM_017020776.2:c.877C>T, XM_017020776.1:c.877C>T, XM_047430655.1:c.850C>T, XM_047430656.1:c.820C>T, XM_047430660.1:c.877C>T, XM_047430661.1:c.877C>T, XM_047430667.1:c.820C>T, XM_047430657.1:c.820C>T, XM_047430670.1:c.877C>T, XM_047430671.1:c.877C>T, XM_047430659.1:c.877C>T, XM_047430662.1:c.877C>T, XM_047430669.1:c.820C>T, XM_047430668.1:c.820C>T, XM_047430658.1:c.793C>T, XM_047430663.1:c.850C>T, XM_047430665.1:c.850C>T, XM_047430666.1:c.850C>T, XM_047430664.1:c.877C>T, XM_047430672.1:c.793C>T, XM_047430673.1:c.850C>T, XM_047430674.1:c.850C>T, XM_047430677.1:c.850C>T, XM_047430675.1:c.793C>T, XM_047430676.1:c.877C>T, XR_007063700.1:n.1284C>T, XM_047430679.1:c.877C>T, XM_047430678.1:c.850C>T, NP_783195.2:p.Gln293Ter, NP_006522.2:p.Gln284Ter, XP_006719933.1:p.Gln284Ter, NP_001340497.1:p.Gln284Ter, XP_016876252.1:p.Gln293Ter, XP_016876246.1:p.Gln284Ter, NP_001305422.1:p.Gln293Ter, NP_001340495.1:p.Gln293Ter, XP_016876251.1:p.Gln293Ter, XP_024305181.1:p.Gln274Ter, NP_001340499.1:p.Gln293Ter, XP_024305183.1:p.Gln293Ter, NP_001340494.1:p.Gln293Ter, NP_001340496.1:p.Gln293Ter, NP_001340505.1:p.Gln293Ter, NP_001340498.1:p.Gln293Ter, NP_001340506.1:p.Gln293Ter, NP_001340504.1:p.Gln265Ter, NP_001305420.1:p.Gln265Ter, NP_001340508.1:p.Gln73Ter, NP_001340500.1:p.Gln284Ter, NP_001340501.1:p.Gln284Ter, NP_001340502.1:p.Gln265Ter, NP_001340503.1:p.Gln265Ter, NP_001340507.1:p.Gln284Ter, XP_016876264.1:p.Gln293Ter, XP_016876265.1:p.Gln293Ter, XP_047286611.1:p.Gln284Ter, XP_047286612.1:p.Gln274Ter, XP_047286616.1:p.Gln293Ter, XP_047286617.1:p.Gln293Ter, XP_047286623.1:p.Gln274Ter, XP_047286613.1:p.Gln274Ter, XP_047286626.1:p.Gln293Ter, XP_047286627.1:p.Gln293Ter, XP_047286615.1:p.Gln293Ter, XP_047286618.1:p.Gln293Ter, XP_047286625.1:p.Gln274Ter, XP_047286624.1:p.Gln274Ter, XP_047286614.1:p.Gln265Ter, XP_047286619.1:p.Gln284Ter, XP_047286621.1:p.Gln284Ter, XP_047286622.1:p.Gln284Ter, XP_047286620.1:p.Gln293Ter, XP_047286628.1:p.Gln265Ter, XP_047286629.1:p.Gln284Ter, XP_047286630.1:p.Gln284Ter, XP_047286633.1:p.Gln284Ter, XP_047286631.1:p.Gln265Ter, XP_047286632.1:p.Gln293Ter, XP_047286635.1:p.Gln293Ter, XP_047286634.1:p.Gln284Ter

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...