Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.27459401A>CCA346382186IFT172c.2764T>G (p.Tyr922Asp)
c.*1937T>G (n.*1937T>G)
c.*779T>G (n.*779T>G)
c.*2361T>G (n.*2361T>G)
c.2083T>G (p.Tyr695Asp)
c.2698T>G (p.Tyr900Asp)
c.*2054T>G (n.*2054T>G)
n.2896T>G
c.2701T>G (p.Tyr901Asp)
c.1204T>G (p.Tyr402Asp)
c.829T>G (p.Tyr277Asp)
c.2635T>G (p.Tyr879Asp)
c.901T>G (p.Tyr301Asp)
c.697T>G (p.Tyr233Asp)
n.2819T>G
2g.27459401A>GCA346382187IFT172c.2764T>C (p.Tyr922His)
c.*1937T>C (n.*1937T>C)
c.*779T>C (n.*779T>C)
c.*2361T>C (n.*2361T>C)
c.2083T>C (p.Tyr695His)
c.2698T>C (p.Tyr900His)
c.*2054T>C (n.*2054T>C)
n.2896T>C
c.2701T>C (p.Tyr901His)
c.1204T>C (p.Tyr402His)
c.829T>C (p.Tyr277His)
c.2635T>C (p.Tyr879His)
c.901T>C (p.Tyr301His)
c.697T>C (p.Tyr233His)
n.2819T>C
 gnomAD v4
2g.27459401A>TCA346382188IFT172c.2764T>A (p.Tyr922Asn)
c.*1937T>A (n.*1937T>A)
c.*779T>A (n.*779T>A)
c.*2361T>A (n.*2361T>A)
c.2083T>A (p.Tyr695Asn)
c.2698T>A (p.Tyr900Asn)
c.*2054T>A (n.*2054T>A)
n.2896T>A
c.2701T>A (p.Tyr901Asn)
c.1204T>A (p.Tyr402Asn)
c.829T>A (p.Tyr277Asn)
c.2635T>A (p.Tyr879Asn)
c.901T>A (p.Tyr301Asn)
c.697T>A (p.Tyr233Asn)
n.2819T>A
2g.27459402G>ACA425404356IFT172c.2763C>T (p.His921=)
c.*1936C>T (n.*1936C>T)
c.*778C>T (n.*778C>T)
c.*2360C>T (n.*2360C>T)
c.2082C>T (p.His694=)
c.2697C>T (p.His899=)
c.*2053C>T (n.*2053C>T)
n.2895C>T
c.2700C>T (p.His900=)
c.1203C>T (p.His401=)
c.828C>T (p.His276=)
c.2634C>T (p.His878=)
c.900C>T (p.His300=)
c.696C>T (p.His232=)
n.2818C>T
2g.27459402G>CCA346382189IFT172c.2763C>G (p.His921Gln)
c.*1936C>G (n.*1936C>G)
c.*778C>G (n.*778C>G)
c.*2360C>G (n.*2360C>G)
c.2082C>G (p.His694Gln)
c.2697C>G (p.His899Gln)
c.*2053C>G (n.*2053C>G)
n.2895C>G
c.2700C>G (p.His900Gln)
c.1203C>G (p.His401Gln)
c.828C>G (p.His276Gln)
c.2634C>G (p.His878Gln)
c.900C>G (p.His300Gln)
c.696C>G (p.His232Gln)
n.2818C>G
2g.27459402G>TCA346382190IFT172c.2763C>A (p.His921Gln)
c.*1936C>A (n.*1936C>A)
c.*778C>A (n.*778C>A)
c.*2360C>A (n.*2360C>A)
c.2082C>A (p.His694Gln)
c.2697C>A (p.His899Gln)
c.*2053C>A (n.*2053C>A)
n.2895C>A
c.2700C>A (p.His900Gln)
c.1203C>A (p.His401Gln)
c.828C>A (p.His276Gln)
c.2634C>A (p.His878Gln)
c.900C>A (p.His300Gln)
c.696C>A (p.His232Gln)
n.2818C>A
2g.27459403T>ACA346382191IFT172c.2762A>T (p.His921Leu)
c.*1935A>T (n.*1935A>T)
c.*777A>T (n.*777A>T)
c.*2359A>T (n.*2359A>T)
c.2081A>T (p.His694Leu)
c.2696A>T (p.His899Leu)
c.*2052A>T (n.*2052A>T)
n.2894A>T
c.2699A>T (p.His900Leu)
c.1202A>T (p.His401Leu)
c.827A>T (p.His276Leu)
c.2633A>T (p.His878Leu)
c.899A>T (p.His300Leu)
c.695A>T (p.His232Leu)
n.2817A>T
 gnomAD v4
2g.27459403T>CCA346382192IFT172c.2762A>G (p.His921Arg)
c.*1935A>G (n.*1935A>G)
c.*777A>G (n.*777A>G)
c.*2359A>G (n.*2359A>G)
c.2081A>G (p.His694Arg)
c.2696A>G (p.His899Arg)
c.*2052A>G (n.*2052A>G)
n.2894A>G
c.2699A>G (p.His900Arg)
c.1202A>G (p.His401Arg)
c.827A>G (p.His276Arg)
c.2633A>G (p.His878Arg)
c.899A>G (p.His300Arg)
c.695A>G (p.His232Arg)
n.2817A>G
2g.27459403T>GCA346382193IFT172c.2762A>C (p.His921Pro)
c.*1935A>C (n.*1935A>C)
c.*777A>C (n.*777A>C)
c.*2359A>C (n.*2359A>C)
c.2081A>C (p.His694Pro)
c.2696A>C (p.His899Pro)
c.*2052A>C (n.*2052A>C)
n.2894A>C
c.2699A>C (p.His900Pro)
c.1202A>C (p.His401Pro)
c.827A>C (p.His276Pro)
c.2633A>C (p.His878Pro)
c.899A>C (p.His300Pro)
c.695A>C (p.His232Pro)
n.2817A>C
2g.27459404G>ACA346382194IFT172c.2761C>T (p.His921Tyr)
c.*1934C>T (n.*1934C>T)
c.*776C>T (n.*776C>T)
c.*2358C>T (n.*2358C>T)
c.2080C>T (p.His694Tyr)
c.2695C>T (p.His899Tyr)
c.*2051C>T (n.*2051C>T)
n.2893C>T
c.2698C>T (p.His900Tyr)
c.1201C>T (p.His401Tyr)
c.826C>T (p.His276Tyr)
c.2632C>T (p.His878Tyr)
c.898C>T (p.His300Tyr)
c.694C>T (p.His232Tyr)
n.2816C>T
 dbSNP gnomAD v2 gnomAD v4
2g.27459404G>CCA346382195IFT172c.2761C>G (p.His921Asp)
c.*1934C>G (n.*1934C>G)
c.*776C>G (n.*776C>G)
c.*2358C>G (n.*2358C>G)
c.2080C>G (p.His694Asp)
c.2695C>G (p.His899Asp)
c.*2051C>G (n.*2051C>G)
n.2893C>G
c.2698C>G (p.His900Asp)
c.1201C>G (p.His401Asp)
c.826C>G (p.His276Asp)
c.2632C>G (p.His878Asp)
c.898C>G (p.His300Asp)
c.694C>G (p.His232Asp)
n.2816C>G
2g.27459404G=CA1240289065IFT172c.2761C= (p.His921=)
c.*1934C= (n.*1934C=)
c.*776C= (n.*776C=)
c.*2358C= (n.*2358C=)
c.2080C= (p.His694=)
c.2695C= (p.His899=)
c.*2051C= (n.*2051C=)
n.2893C=
c.2698C= (p.His900=)
c.1201C= (p.His401=)
c.826C= (p.His276=)
c.2632C= (p.His878=)
c.898C= (p.His300=)
c.694C= (p.His232=)
n.2816C=
2g.27459404G>TCA346382196IFT172c.2761C>A (p.His921Asn)
c.*1934C>A (n.*1934C>A)
c.*776C>A (n.*776C>A)
c.*2358C>A (n.*2358C>A)
c.2080C>A (p.His694Asn)
c.2695C>A (p.His899Asn)
c.*2051C>A (n.*2051C>A)
n.2893C>A
c.2698C>A (p.His900Asn)
c.1201C>A (p.His401Asn)
c.826C>A (p.His276Asn)
c.2632C>A (p.His878Asn)
c.898C>A (p.His300Asn)
c.694C>A (p.His232Asn)
n.2816C>A
2g.27459405T>ACA346382197IFT172c.2760A>T (p.Gln920His)
c.*1933A>T (n.*1933A>T)
c.*775A>T (n.*775A>T)
c.*2357A>T (n.*2357A>T)
c.2079A>T (p.Gln693His)
c.2694A>T (p.Gln898His)
c.*2050A>T (n.*2050A>T)
n.2892A>T
c.2697A>T (p.Gln899His)
c.1200A>T (p.Gln400His)
c.825A>T (p.Gln275His)
c.2631A>T (p.Gln877His)
c.897A>T (p.Gln299His)
c.693A>T (p.Gln231His)
n.2815A>T
2g.27459405T>CCA425404368IFT172c.2760A>G (p.Gln920=)
c.*1933A>G (n.*1933A>G)
c.*775A>G (n.*775A>G)
c.*2357A>G (n.*2357A>G)
c.2079A>G (p.Gln693=)
c.2694A>G (p.Gln898=)
c.*2050A>G (n.*2050A>G)
n.2892A>G
c.2697A>G (p.Gln899=)
c.1200A>G (p.Gln400=)
c.825A>G (p.Gln275=)
c.2631A>G (p.Gln877=)
c.897A>G (p.Gln299=)
c.693A>G (p.Gln231=)
n.2815A>G
2g.27459405T>GCA346382198IFT172c.2760A>C (p.Gln920His)
c.*1933A>C (n.*1933A>C)
c.*775A>C (n.*775A>C)
c.*2357A>C (n.*2357A>C)
c.2079A>C (p.Gln693His)
c.2694A>C (p.Gln898His)
c.*2050A>C (n.*2050A>C)
n.2892A>C
c.2697A>C (p.Gln899His)
c.1200A>C (p.Gln400His)
c.825A>C (p.Gln275His)
c.2631A>C (p.Gln877His)
c.897A>C (p.Gln299His)
c.693A>C (p.Gln231His)
n.2815A>C
2g.27459406dupCA2580066238IFT172c.2760dup (p.His921ThrfsTer9)
c.*1933dup (n.*1933dup)
c.*775dup (n.*775dup)
c.*2357dup (n.*2357dup)
c.2079dup (p.His694ThrfsTer9)
c.2694dup (p.His899ThrfsTer9)
c.*2050dup (n.*2050dup)
n.2892dup
c.2697dup (p.His900ThrfsTer9)
c.1200dup (p.His401ThrfsTer9)
c.825dup (p.His276ThrfsTer9)
c.2631dup (p.His878ThrfsTer9)
c.897dup (p.His300ThrfsTer9)
c.693dup (p.His232ThrfsTer9)
n.2815dup
 ClinVar
2g.27459406T>ACA346382201IFT172c.2759A>T (p.Gln920Leu)
c.*1932A>T (n.*1932A>T)
c.*774A>T (n.*774A>T)
c.*2356A>T (n.*2356A>T)
c.2078A>T (p.Gln693Leu)
c.2693A>T (p.Gln898Leu)
c.*2049A>T (n.*2049A>T)
n.2891A>T
c.2696A>T (p.Gln899Leu)
c.1199A>T (p.Gln400Leu)
c.824A>T (p.Gln275Leu)
c.2630A>T (p.Gln877Leu)
c.896A>T (p.Gln299Leu)
c.692A>T (p.Gln231Leu)
n.2814A>T
2g.27459406T>CCA346382200IFT172c.2759A>G (p.Gln920Arg)
c.*1932A>G (n.*1932A>G)
c.*774A>G (n.*774A>G)
c.*2356A>G (n.*2356A>G)
c.2078A>G (p.Gln693Arg)
c.2693A>G (p.Gln898Arg)
c.*2049A>G (n.*2049A>G)
n.2891A>G
c.2696A>G (p.Gln899Arg)
c.1199A>G (p.Gln400Arg)
c.824A>G (p.Gln275Arg)
c.2630A>G (p.Gln877Arg)
c.896A>G (p.Gln299Arg)
c.692A>G (p.Gln231Arg)
n.2814A>G
2g.27459406T>GCA346382199IFT172c.2759A>C (p.Gln920Pro)
c.*1932A>C (n.*1932A>C)
c.*774A>C (n.*774A>C)
c.*2356A>C (n.*2356A>C)
c.2078A>C (p.Gln693Pro)
c.2693A>C (p.Gln898Pro)
c.*2049A>C (n.*2049A>C)
n.2891A>C
c.2696A>C (p.Gln899Pro)
c.1199A>C (p.Gln400Pro)
c.824A>C (p.Gln275Pro)
c.2630A>C (p.Gln877Pro)
c.896A>C (p.Gln299Pro)
c.692A>C (p.Gln231Pro)
n.2814A>C
2g.27459407G>ACA44494694IFT172c.2758C>T (p.Gln920Ter)
c.*1931C>T (n.*1931C>T)
c.*773C>T (n.*773C>T)
c.*2355C>T (n.*2355C>T)
c.2077C>T (p.Gln693Ter)
c.2692C>T (p.Gln898Ter)
c.*2048C>T (n.*2048C>T)
n.2890C>T
c.2695C>T (p.Gln899Ter)
c.1198C>T (p.Gln400Ter)
c.823C>T (p.Gln275Ter)
c.2629C>T (p.Gln877Ter)
c.895C>T (p.Gln299Ter)
c.691C>T (p.Gln231Ter)
n.2813C>T
 dbSNP gnomAD v3 gnomAD v4
2g.27459407G>CCA346382202IFT172c.2758C>G (p.Gln920Glu)
c.*1931C>G (n.*1931C>G)
c.*773C>G (n.*773C>G)
c.*2355C>G (n.*2355C>G)
c.2077C>G (p.Gln693Glu)
c.2692C>G (p.Gln898Glu)
c.*2048C>G (n.*2048C>G)
n.2890C>G
c.2695C>G (p.Gln899Glu)
c.1198C>G (p.Gln400Glu)
c.823C>G (p.Gln275Glu)
c.2629C>G (p.Gln877Glu)
c.895C>G (p.Gln299Glu)
c.691C>G (p.Gln231Glu)
n.2813C>G
2g.27459407G=CA1240289066IFT172c.2758C= (p.Gln920=)
c.*1931C= (n.*1931C=)
c.*773C= (n.*773C=)
c.*2355C= (n.*2355C=)
c.2077C= (p.Gln693=)
c.2692C= (p.Gln898=)
c.*2048C= (n.*2048C=)
n.2890C=
c.2695C= (p.Gln899=)
c.1198C= (p.Gln400=)
c.823C= (p.Gln275=)
c.2629C= (p.Gln877=)
c.895C= (p.Gln299=)
c.691C= (p.Gln231=)
n.2813C=
2g.27459407G>TCA346382203IFT172c.2758C>A (p.Gln920Lys)
c.*1931C>A (n.*1931C>A)
c.*773C>A (n.*773C>A)
c.*2355C>A (n.*2355C>A)
c.2077C>A (p.Gln693Lys)
c.2692C>A (p.Gln898Lys)
c.*2048C>A (n.*2048C>A)
n.2890C>A
c.2695C>A (p.Gln899Lys)
c.1198C>A (p.Gln400Lys)
c.823C>A (p.Gln275Lys)
c.2629C>A (p.Gln877Lys)
c.895C>A (p.Gln299Lys)
c.691C>A (p.Gln231Lys)
n.2813C>A
2g.27459408G>ACA1580201IFT172c.2757C>T (p.Ala919=)
c.*1930C>T (n.*1930C>T)
c.*772C>T (n.*772C>T)
c.*2354C>T (n.*2354C>T)
c.2076C>T (p.Ala692=)
c.2691C>T (p.Ala897=)
c.*2047C>T (n.*2047C>T)
n.2889C>T
c.2694C>T (p.Ala898=)
c.1197C>T (p.Ala399=)
c.822C>T (p.Ala274=)
c.2628C>T (p.Ala876=)
c.894C>T (p.Ala298=)
c.690C>T (p.Ala230=)
n.2812C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27459408G>CCA425404381IFT172c.2757C>G (p.Ala919=)
c.*1930C>G (n.*1930C>G)
c.*772C>G (n.*772C>G)
c.*2354C>G (n.*2354C>G)
c.2076C>G (p.Ala692=)
c.2691C>G (p.Ala897=)
c.*2047C>G (n.*2047C>G)
n.2889C>G
c.2694C>G (p.Ala898=)
c.1197C>G (p.Ala399=)
c.822C>G (p.Ala274=)
c.2628C>G (p.Ala876=)
c.894C>G (p.Ala298=)
c.690C>G (p.Ala230=)
n.2812C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27459408G=CA1240289067IFT172c.2757C= (p.Ala919=)
c.*1930C= (n.*1930C=)
c.*772C= (n.*772C=)
c.*2354C= (n.*2354C=)
c.2076C= (p.Ala692=)
c.2691C= (p.Ala897=)
c.*2047C= (n.*2047C=)
n.2889C=
c.2694C= (p.Ala898=)
c.1197C= (p.Ala399=)
c.822C= (p.Ala274=)
c.2628C= (p.Ala876=)
c.894C= (p.Ala298=)
c.690C= (p.Ala230=)
n.2812C=
2g.27459408G>TCA425404382IFT172c.2757C>A (p.Ala919=)
c.*1930C>A (n.*1930C>A)
c.*772C>A (n.*772C>A)
c.*2354C>A (n.*2354C>A)
c.2076C>A (p.Ala692=)
c.2691C>A (p.Ala897=)
c.*2047C>A (n.*2047C>A)
n.2889C>A
c.2694C>A (p.Ala898=)
c.1197C>A (p.Ala399=)
c.822C>A (p.Ala274=)
c.2628C>A (p.Ala876=)
c.894C>A (p.Ala298=)
c.690C>A (p.Ala230=)
n.2812C>A
2g.27459409G>ACA346382204IFT172c.2756C>T (p.Ala919Val)
c.*1929C>T (n.*1929C>T)
c.*771C>T (n.*771C>T)
c.*2353C>T (n.*2353C>T)
c.2075C>T (p.Ala692Val)
c.2690C>T (p.Ala897Val)
c.*2046C>T (n.*2046C>T)
n.2888C>T
c.2693C>T (p.Ala898Val)
c.1196C>T (p.Ala399Val)
c.821C>T (p.Ala274Val)
c.2627C>T (p.Ala876Val)
c.893C>T (p.Ala298Val)
c.689C>T (p.Ala230Val)
n.2811C>T
 gnomAD v4
2g.27459409G>CCA346382205IFT172c.2756C>G (p.Ala919Gly)
c.*1929C>G (n.*1929C>G)
c.*771C>G (n.*771C>G)
c.*2353C>G (n.*2353C>G)
c.2075C>G (p.Ala692Gly)
c.2690C>G (p.Ala897Gly)
c.*2046C>G (n.*2046C>G)
n.2888C>G
c.2693C>G (p.Ala898Gly)
c.1196C>G (p.Ala399Gly)
c.821C>G (p.Ala274Gly)
c.2627C>G (p.Ala876Gly)
c.893C>G (p.Ala298Gly)
c.689C>G (p.Ala230Gly)
n.2811C>G
2g.27459409G>TCA346382206IFT172c.2756C>A (p.Ala919Asp)
c.*1929C>A (n.*1929C>A)
c.*771C>A (n.*771C>A)
c.*2353C>A (n.*2353C>A)
c.2075C>A (p.Ala692Asp)
c.2690C>A (p.Ala897Asp)
c.*2046C>A (n.*2046C>A)
n.2888C>A
c.2693C>A (p.Ala898Asp)
c.1196C>A (p.Ala399Asp)
c.821C>A (p.Ala274Asp)
c.2627C>A (p.Ala876Asp)
c.893C>A (p.Ala298Asp)
c.689C>A (p.Ala230Asp)
n.2811C>A
2g.27459410C>ACA346382207IFT172c.2755G>T (p.Ala919Ser)
c.*1928G>T (n.*1928G>T)
c.*770G>T (n.*770G>T)
c.*2352G>T (n.*2352G>T)
c.2074G>T (p.Ala692Ser)
c.2689G>T (p.Ala897Ser)
c.*2045G>T (n.*2045G>T)
n.2887G>T
c.2692G>T (p.Ala898Ser)
c.1195G>T (p.Ala399Ser)
c.820G>T (p.Ala274Ser)
c.2626G>T (p.Ala876Ser)
c.892G>T (p.Ala298Ser)
c.688G>T (p.Ala230Ser)
n.2810G>T
2g.27459410C>GCA346382208IFT172c.2755G>C (p.Ala919Pro)
c.*1928G>C (n.*1928G>C)
c.*770G>C (n.*770G>C)
c.*2352G>C (n.*2352G>C)
c.2074G>C (p.Ala692Pro)
c.2689G>C (p.Ala897Pro)
c.*2045G>C (n.*2045G>C)
n.2887G>C
c.2692G>C (p.Ala898Pro)
c.1195G>C (p.Ala399Pro)
c.820G>C (p.Ala274Pro)
c.2626G>C (p.Ala876Pro)
c.892G>C (p.Ala298Pro)
c.688G>C (p.Ala230Pro)
n.2810G>C
2g.27459410C>TCA346382209IFT172c.2755G>A (p.Ala919Thr)
c.*1928G>A (n.*1928G>A)
c.*770G>A (n.*770G>A)
c.*2352G>A (n.*2352G>A)
c.2074G>A (p.Ala692Thr)
c.2689G>A (p.Ala897Thr)
c.*2045G>A (n.*2045G>A)
n.2887G>A
c.2692G>A (p.Ala898Thr)
c.1195G>A (p.Ala399Thr)
c.820G>A (p.Ala274Thr)
c.2626G>A (p.Ala876Thr)
c.892G>A (p.Ala298Thr)
c.688G>A (p.Ala230Thr)
n.2810G>A
2g.27459411C>ACA425404395IFT172c.2754G>T (p.Val918=)
c.*1927G>T (n.*1927G>T)
c.*769G>T (n.*769G>T)
c.*2351G>T (n.*2351G>T)
c.2073G>T (p.Val691=)
c.2688G>T (p.Val896=)
c.*2044G>T (n.*2044G>T)
n.2886G>T
c.2691G>T (p.Val897=)
c.1194G>T (p.Val398=)
c.819G>T (p.Val273=)
c.2625G>T (p.Val875=)
c.891G>T (p.Val297=)
c.687G>T (p.Val229=)
n.2809G>T
2g.27459411C=CA1240289068IFT172c.2754G= (p.Val918=)
c.*1927G= (n.*1927G=)
c.*769G= (n.*769G=)
c.*2351G= (n.*2351G=)
c.2073G= (p.Val691=)
c.2688G= (p.Val896=)
c.*2044G= (n.*2044G=)
n.2886G=
c.2691G= (p.Val897=)
c.1194G= (p.Val398=)
c.819G= (p.Val273=)
c.2625G= (p.Val875=)
c.891G= (p.Val297=)
c.687G= (p.Val229=)
n.2809G=
2g.27459411C>GCA425404404IFT172c.2754G>C (p.Val918=)
c.*1927G>C (n.*1927G>C)
c.*769G>C (n.*769G>C)
c.*2351G>C (n.*2351G>C)
c.2073G>C (p.Val691=)
c.2688G>C (p.Val896=)
c.*2044G>C (n.*2044G>C)
n.2886G>C
c.2691G>C (p.Val897=)
c.1194G>C (p.Val398=)
c.819G>C (p.Val273=)
c.2625G>C (p.Val875=)
c.891G>C (p.Val297=)
c.687G>C (p.Val229=)
n.2809G>C
2g.27459411C>TCA44494702IFT172c.2754G>A (p.Val918=)
c.*1927G>A (n.*1927G>A)
c.*769G>A (n.*769G>A)
c.*2351G>A (n.*2351G>A)
c.2073G>A (p.Val691=)
c.2688G>A (p.Val896=)
c.*2044G>A (n.*2044G>A)
n.2886G>A
c.2691G>A (p.Val897=)
c.1194G>A (p.Val398=)
c.819G>A (p.Val273=)
c.2625G>A (p.Val875=)
c.891G>A (p.Val297=)
c.687G>A (p.Val229=)
n.2809G>A
 dbSNP
2g.27459412A>CCA346382210IFT172c.2753T>G (p.Val918Gly)
c.*1926T>G (n.*1926T>G)
c.*768T>G (n.*768T>G)
c.*2350T>G (n.*2350T>G)
c.2072T>G (p.Val691Gly)
c.2687T>G (p.Val896Gly)
c.*2043T>G (n.*2043T>G)
n.2885T>G
c.2690T>G (p.Val897Gly)
c.1193T>G (p.Val398Gly)
c.818T>G (p.Val273Gly)
c.2624T>G (p.Val875Gly)
c.890T>G (p.Val297Gly)
c.686T>G (p.Val229Gly)
n.2808T>G
2g.27459412A>GCA346382211IFT172c.2753T>C (p.Val918Ala)
c.*1926T>C (n.*1926T>C)
c.*768T>C (n.*768T>C)
c.*2350T>C (n.*2350T>C)
c.2072T>C (p.Val691Ala)
c.2687T>C (p.Val896Ala)
c.*2043T>C (n.*2043T>C)
n.2885T>C
c.2690T>C (p.Val897Ala)
c.1193T>C (p.Val398Ala)
c.818T>C (p.Val273Ala)
c.2624T>C (p.Val875Ala)
c.890T>C (p.Val297Ala)
c.686T>C (p.Val229Ala)
n.2808T>C
2g.27459412A>TCA346382212IFT172c.2753T>A (p.Val918Glu)
c.*1926T>A (n.*1926T>A)
c.*768T>A (n.*768T>A)
c.*2350T>A (n.*2350T>A)
c.2072T>A (p.Val691Glu)
c.2687T>A (p.Val896Glu)
c.*2043T>A (n.*2043T>A)
n.2885T>A
c.2690T>A (p.Val897Glu)
c.1193T>A (p.Val398Glu)
c.818T>A (p.Val273Glu)
c.2624T>A (p.Val875Glu)
c.890T>A (p.Val297Glu)
c.686T>A (p.Val229Glu)
n.2808T>A
2g.27459413C>ACA346382214IFT172c.2752G>T (p.Val918Leu)
c.*1925G>T (n.*1925G>T)
c.*767G>T (n.*767G>T)
c.*2349G>T (n.*2349G>T)
c.2071G>T (p.Val691Leu)
c.2686G>T (p.Val896Leu)
c.*2042G>T (n.*2042G>T)
n.2884G>T
c.2689G>T (p.Val897Leu)
c.1192G>T (p.Val398Leu)
c.817G>T (p.Val273Leu)
c.2623G>T (p.Val875Leu)
c.889G>T (p.Val297Leu)
c.685G>T (p.Val229Leu)
n.2807G>T
2g.27459413C=CA1240289069IFT172c.2752G= (p.Val918=)
c.*1925G= (n.*1925G=)
c.*767G= (n.*767G=)
c.*2349G= (n.*2349G=)
c.2071G= (p.Val691=)
c.2686G= (p.Val896=)
c.*2042G= (n.*2042G=)
n.2884G=
c.2689G= (p.Val897=)
c.1192G= (p.Val398=)
c.817G= (p.Val273=)
c.2623G= (p.Val875=)
c.889G= (p.Val297=)
c.685G= (p.Val229=)
n.2807G=
2g.27459413C>GCA346382213IFT172c.2752G>C (p.Val918Leu)
c.*1925G>C (n.*1925G>C)
c.*767G>C (n.*767G>C)
c.*2349G>C (n.*2349G>C)
c.2071G>C (p.Val691Leu)
c.2686G>C (p.Val896Leu)
c.*2042G>C (n.*2042G>C)
n.2884G>C
c.2689G>C (p.Val897Leu)
c.1192G>C (p.Val398Leu)
c.817G>C (p.Val273Leu)
c.2623G>C (p.Val875Leu)
c.889G>C (p.Val297Leu)
c.685G>C (p.Val229Leu)
n.2807G>C
 gnomAD v4
2g.27459413C>TCA1580202IFT172c.2752G>A (p.Val918Met)
c.*1925G>A (n.*1925G>A)
c.*767G>A (n.*767G>A)
c.*2349G>A (n.*2349G>A)
c.2071G>A (p.Val691Met)
c.2686G>A (p.Val896Met)
c.*2042G>A (n.*2042G>A)
n.2884G>A
c.2689G>A (p.Val897Met)
c.1192G>A (p.Val398Met)
c.817G>A (p.Val273Met)
c.2623G>A (p.Val875Met)
c.889G>A (p.Val297Met)
c.685G>A (p.Val229Met)
n.2807G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27459414G>ACA1580203IFT172c.2751C>T (p.Leu917=)
c.*1924C>T (n.*1924C>T)
c.*766C>T (n.*766C>T)
c.*2348C>T (n.*2348C>T)
c.2070C>T (p.Leu690=)
c.2685C>T (p.Leu895=)
c.*2041C>T (n.*2041C>T)
n.2883C>T
c.2688C>T (p.Leu896=)
c.1191C>T (p.Leu397=)
c.816C>T (p.Leu272=)
c.2622C>T (p.Leu874=)
c.888C>T (p.Leu296=)
c.684C>T (p.Leu228=)
n.2806C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.27459414G>CCA425404417IFT172c.2751C>G (p.Leu917=)
c.*1924C>G (n.*1924C>G)
c.*766C>G (n.*766C>G)
c.*2348C>G (n.*2348C>G)
c.2070C>G (p.Leu690=)
c.2685C>G (p.Leu895=)
c.*2041C>G (n.*2041C>G)
n.2883C>G
c.2688C>G (p.Leu896=)
c.1191C>G (p.Leu397=)
c.816C>G (p.Leu272=)
c.2622C>G (p.Leu874=)
c.888C>G (p.Leu296=)
c.684C>G (p.Leu228=)
n.2806C>G
2g.27459414G=CA1240289070IFT172c.2751C= (p.Leu917=)
c.*1924C= (n.*1924C=)
c.*766C= (n.*766C=)
c.*2348C= (n.*2348C=)
c.2070C= (p.Leu690=)
c.2685C= (p.Leu895=)
c.*2041C= (n.*2041C=)
n.2883C=
c.2688C= (p.Leu896=)
c.1191C= (p.Leu397=)
c.816C= (p.Leu272=)
c.2622C= (p.Leu874=)
c.888C= (p.Leu296=)
c.684C= (p.Leu228=)
n.2806C=
2g.27459414G>TCA425404419IFT172c.2751C>A (p.Leu917=)
c.*1924C>A (n.*1924C>A)
c.*766C>A (n.*766C>A)
c.*2348C>A (n.*2348C>A)
c.2070C>A (p.Leu690=)
c.2685C>A (p.Leu895=)
c.*2041C>A (n.*2041C>A)
n.2883C>A
c.2688C>A (p.Leu896=)
c.1191C>A (p.Leu397=)
c.816C>A (p.Leu272=)
c.2622C>A (p.Leu874=)
c.888C>A (p.Leu296=)
c.684C>A (p.Leu228=)
n.2806C>A
2g.27459415A>CCA346382216IFT172c.2750T>G (p.Leu917Arg)
c.*1923T>G (n.*1923T>G)
c.*765T>G (n.*765T>G)
c.*2347T>G (n.*2347T>G)
c.2069T>G (p.Leu690Arg)
c.2684T>G (p.Leu895Arg)
c.*2040T>G (n.*2040T>G)
n.2882T>G
c.2687T>G (p.Leu896Arg)
c.1190T>G (p.Leu397Arg)
c.815T>G (p.Leu272Arg)
c.2621T>G (p.Leu874Arg)
c.887T>G (p.Leu296Arg)
c.683T>G (p.Leu228Arg)
n.2805T>G
2g.27459415A>GCA346382215IFT172c.2750T>C (p.Leu917Pro)
c.*1923T>C (n.*1923T>C)
c.*765T>C (n.*765T>C)
c.*2347T>C (n.*2347T>C)
c.2069T>C (p.Leu690Pro)
c.2684T>C (p.Leu895Pro)
c.*2040T>C (n.*2040T>C)
n.2882T>C
c.2687T>C (p.Leu896Pro)
c.1190T>C (p.Leu397Pro)
c.815T>C (p.Leu272Pro)
c.2621T>C (p.Leu874Pro)
c.887T>C (p.Leu296Pro)
c.683T>C (p.Leu228Pro)
n.2805T>C
 gnomAD v4
2g.27459415A>TCA346382217IFT172c.2750T>A (p.Leu917His)
c.*1923T>A (n.*1923T>A)
c.*765T>A (n.*765T>A)
c.*2347T>A (n.*2347T>A)
c.2069T>A (p.Leu690His)
c.2684T>A (p.Leu895His)
c.*2040T>A (n.*2040T>A)
n.2882T>A
c.2687T>A (p.Leu896His)
c.1190T>A (p.Leu397His)
c.815T>A (p.Leu272His)
c.2621T>A (p.Leu874His)
c.887T>A (p.Leu296His)
c.683T>A (p.Leu228His)
n.2805T>A
2g.27459416G>ACA346382218IFT172c.2749C>T (p.Leu917Phe)
c.*1922C>T (n.*1922C>T)
c.*764C>T (n.*764C>T)
c.*2346C>T (n.*2346C>T)
c.2068C>T (p.Leu690Phe)
c.2683C>T (p.Leu895Phe)
c.*2039C>T (n.*2039C>T)
n.2881C>T
c.2686C>T (p.Leu896Phe)
c.1189C>T (p.Leu397Phe)
c.814C>T (p.Leu272Phe)
c.2620C>T (p.Leu874Phe)
c.886C>T (p.Leu296Phe)
c.682C>T (p.Leu228Phe)
n.2804C>T
2g.27459416G>CCA346382220IFT172c.2749C>G (p.Leu917Val)
c.*1922C>G (n.*1922C>G)
c.*764C>G (n.*764C>G)
c.*2346C>G (n.*2346C>G)
c.2068C>G (p.Leu690Val)
c.2683C>G (p.Leu895Val)
c.*2039C>G (n.*2039C>G)
n.2881C>G
c.2686C>G (p.Leu896Val)
c.1189C>G (p.Leu397Val)
c.814C>G (p.Leu272Val)
c.2620C>G (p.Leu874Val)
c.886C>G (p.Leu296Val)
c.682C>G (p.Leu228Val)
n.2804C>G
2g.27459416G>TCA346382219IFT172c.2749C>A (p.Leu917Ile)
c.*1922C>A (n.*1922C>A)
c.*764C>A (n.*764C>A)
c.*2346C>A (n.*2346C>A)
c.2068C>A (p.Leu690Ile)
c.2683C>A (p.Leu895Ile)
c.*2039C>A (n.*2039C>A)
n.2881C>A
c.2686C>A (p.Leu896Ile)
c.1189C>A (p.Leu397Ile)
c.814C>A (p.Leu272Ile)
c.2620C>A (p.Leu874Ile)
c.886C>A (p.Leu296Ile)
c.682C>A (p.Leu228Ile)
n.2804C>A
2g.27459417A>CCA425404422IFT172c.2748T>G (p.Pro916=)
c.*1921T>G (n.*1921T>G)
c.*763T>G (n.*763T>G)
c.*2345T>G (n.*2345T>G)
c.2067T>G (p.Pro689=)
c.2682T>G (p.Pro894=)
c.*2038T>G (n.*2038T>G)
n.2880T>G
c.2685T>G (p.Pro895=)
c.1188T>G (p.Pro396=)
c.813T>G (p.Pro271=)
c.2619T>G (p.Pro873=)
c.885T>G (p.Pro295=)
c.681T>G (p.Pro227=)
n.2803T>G
2g.27459417A>GCA425404423IFT172c.2748T>C (p.Pro916=)
c.*1921T>C (n.*1921T>C)
c.*763T>C (n.*763T>C)
c.*2345T>C (n.*2345T>C)
c.2067T>C (p.Pro689=)
c.2682T>C (p.Pro894=)
c.*2038T>C (n.*2038T>C)
n.2880T>C
c.2685T>C (p.Pro895=)
c.1188T>C (p.Pro396=)
c.813T>C (p.Pro271=)
c.2619T>C (p.Pro873=)
c.885T>C (p.Pro295=)
c.681T>C (p.Pro227=)
n.2803T>C
2g.27459417A>TCA425404421IFT172c.2748T>A (p.Pro916=)
c.*1921T>A (n.*1921T>A)
c.*763T>A (n.*763T>A)
c.*2345T>A (n.*2345T>A)
c.2067T>A (p.Pro689=)
c.2682T>A (p.Pro894=)
c.*2038T>A (n.*2038T>A)
n.2880T>A
c.2685T>A (p.Pro895=)
c.1188T>A (p.Pro396=)
c.813T>A (p.Pro271=)
c.2619T>A (p.Pro873=)
c.885T>A (p.Pro295=)
c.681T>A (p.Pro227=)
n.2803T>A
2g.27459418G>ACA346382221IFT172c.2747C>T (p.Pro916Leu)
c.*1920C>T (n.*1920C>T)
c.*762C>T (n.*762C>T)
c.*2344C>T (n.*2344C>T)
c.2066C>T (p.Pro689Leu)
c.2681C>T (p.Pro894Leu)
c.*2037C>T (n.*2037C>T)
n.2879C>T
c.2684C>T (p.Pro895Leu)
c.1187C>T (p.Pro396Leu)
c.812C>T (p.Pro271Leu)
c.2618C>T (p.Pro873Leu)
c.884C>T (p.Pro295Leu)
c.680C>T (p.Pro227Leu)
n.2802C>T
 ClinVar
2g.27459418G>CCA346382222IFT172c.2747C>G (p.Pro916Arg)
c.*1920C>G (n.*1920C>G)
c.*762C>G (n.*762C>G)
c.*2344C>G (n.*2344C>G)
c.2066C>G (p.Pro689Arg)
c.2681C>G (p.Pro894Arg)
c.*2037C>G (n.*2037C>G)
n.2879C>G
c.2684C>G (p.Pro895Arg)
c.1187C>G (p.Pro396Arg)
c.812C>G (p.Pro271Arg)
c.2618C>G (p.Pro873Arg)
c.884C>G (p.Pro295Arg)
c.680C>G (p.Pro227Arg)
n.2802C>G
2g.27459418G>TCA346382223IFT172c.2747C>A (p.Pro916His)
c.*1920C>A (n.*1920C>A)
c.*762C>A (n.*762C>A)
c.*2344C>A (n.*2344C>A)
c.2066C>A (p.Pro689His)
c.2681C>A (p.Pro894His)
c.*2037C>A (n.*2037C>A)
n.2879C>A
c.2684C>A (p.Pro895His)
c.1187C>A (p.Pro396His)
c.812C>A (p.Pro271His)
c.2618C>A (p.Pro873His)
c.884C>A (p.Pro295His)
c.680C>A (p.Pro227His)
n.2802C>A
2g.27459419G>ACA346382224IFT172c.2746C>T (p.Pro916Ser)
c.*1919C>T (n.*1919C>T)
c.*761C>T (n.*761C>T)
c.*2343C>T (n.*2343C>T)
c.2065C>T (p.Pro689Ser)
c.2680C>T (p.Pro894Ser)
c.*2036C>T (n.*2036C>T)
n.2878C>T
c.2683C>T (p.Pro895Ser)
c.1186C>T (p.Pro396Ser)
c.811C>T (p.Pro271Ser)
c.2617C>T (p.Pro873Ser)
c.883C>T (p.Pro295Ser)
c.679C>T (p.Pro227Ser)
n.2801C>T
2g.27459419G>CCA346382225IFT172c.2746C>G (p.Pro916Ala)
c.*1919C>G (n.*1919C>G)
c.*761C>G (n.*761C>G)
c.*2343C>G (n.*2343C>G)
c.2065C>G (p.Pro689Ala)
c.2680C>G (p.Pro894Ala)
c.*2036C>G (n.*2036C>G)
n.2878C>G
c.2683C>G (p.Pro895Ala)
c.1186C>G (p.Pro396Ala)
c.811C>G (p.Pro271Ala)
c.2617C>G (p.Pro873Ala)
c.883C>G (p.Pro295Ala)
c.679C>G (p.Pro227Ala)
n.2801C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27459419G=CA1240289071IFT172c.2746C= (p.Pro916=)
c.*1919C= (n.*1919C=)
c.*761C= (n.*761C=)
c.*2343C= (n.*2343C=)
c.2065C= (p.Pro689=)
c.2680C= (p.Pro894=)
c.*2036C= (n.*2036C=)
n.2878C=
c.2683C= (p.Pro895=)
c.1186C= (p.Pro396=)
c.811C= (p.Pro271=)
c.2617C= (p.Pro873=)
c.883C= (p.Pro295=)
c.679C= (p.Pro227=)
n.2801C=
2g.27459419G>TCA346382226IFT172c.2746C>A (p.Pro916Thr)
c.*1919C>A (n.*1919C>A)
c.*761C>A (n.*761C>A)
c.*2343C>A (n.*2343C>A)
c.2065C>A (p.Pro689Thr)
c.2680C>A (p.Pro894Thr)
c.*2036C>A (n.*2036C>A)
n.2878C>A
c.2683C>A (p.Pro895Thr)
c.1186C>A (p.Pro396Thr)
c.811C>A (p.Pro271Thr)
c.2617C>A (p.Pro873Thr)
c.883C>A (p.Pro295Thr)
c.679C>A (p.Pro227Thr)
n.2801C>A
2g.27459420A>CCA346382227IFT172c.2745T>G (p.Tyr915Ter)
c.*1918T>G (n.*1918T>G)
c.*760T>G (n.*760T>G)
c.*2342T>G (n.*2342T>G)
c.2064T>G (p.Tyr688Ter)
c.2679T>G (p.Tyr893Ter)
c.*2035T>G (n.*2035T>G)
n.2877T>G
c.2682T>G (p.Tyr894Ter)
c.1185T>G (p.Tyr395Ter)
c.810T>G (p.Tyr270Ter)
c.2616T>G (p.Tyr872Ter)
c.882T>G (p.Tyr294Ter)
c.678T>G (p.Tyr226Ter)
n.2800T>G
2g.27459420A>GCA425404445IFT172c.2745T>C (p.Tyr915=)
c.*1918T>C (n.*1918T>C)
c.*760T>C (n.*760T>C)
c.*2342T>C (n.*2342T>C)
c.2064T>C (p.Tyr688=)
c.2679T>C (p.Tyr893=)
c.*2035T>C (n.*2035T>C)
n.2877T>C
c.2682T>C (p.Tyr894=)
c.1185T>C (p.Tyr395=)
c.810T>C (p.Tyr270=)
c.2616T>C (p.Tyr872=)
c.882T>C (p.Tyr294=)
c.678T>C (p.Tyr226=)
n.2800T>C
 gnomAD v4
2g.27459420A>TCA346382228IFT172c.2745T>A (p.Tyr915Ter)
c.*1918T>A (n.*1918T>A)
c.*760T>A (n.*760T>A)
c.*2342T>A (n.*2342T>A)
c.2064T>A (p.Tyr688Ter)
c.2679T>A (p.Tyr893Ter)
c.*2035T>A (n.*2035T>A)
n.2877T>A
c.2682T>A (p.Tyr894Ter)
c.1185T>A (p.Tyr395Ter)
c.810T>A (p.Tyr270Ter)
c.2616T>A (p.Tyr872Ter)
c.882T>A (p.Tyr294Ter)
c.678T>A (p.Tyr226Ter)
n.2800T>A
2g.27459421T>ACA346382229IFT172c.2744A>T (p.Tyr915Phe)
c.*1917A>T (n.*1917A>T)
c.*759A>T (n.*759A>T)
c.*2341A>T (n.*2341A>T)
c.2063A>T (p.Tyr688Phe)
c.2678A>T (p.Tyr893Phe)
c.*2034A>T (n.*2034A>T)
n.2876A>T
c.2681A>T (p.Tyr894Phe)
c.1184A>T (p.Tyr395Phe)
c.809A>T (p.Tyr270Phe)
c.2615A>T (p.Tyr872Phe)
c.881A>T (p.Tyr294Phe)
c.677A>T (p.Tyr226Phe)
n.2799A>T
 ClinVar
2g.27459421T>CCA1580204IFT172c.2744A>G (p.Tyr915Cys)
c.*1917A>G (n.*1917A>G)
c.*759A>G (n.*759A>G)
c.*2341A>G (n.*2341A>G)
c.2063A>G (p.Tyr688Cys)
c.2678A>G (p.Tyr893Cys)
c.*2034A>G (n.*2034A>G)
n.2876A>G
c.2681A>G (p.Tyr894Cys)
c.1184A>G (p.Tyr395Cys)
c.809A>G (p.Tyr270Cys)
c.2615A>G (p.Tyr872Cys)
c.881A>G (p.Tyr294Cys)
c.677A>G (p.Tyr226Cys)
n.2799A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27459421T>GCA346382230IFT172c.2744A>C (p.Tyr915Ser)
c.*1917A>C (n.*1917A>C)
c.*759A>C (n.*759A>C)
c.*2341A>C (n.*2341A>C)
c.2063A>C (p.Tyr688Ser)
c.2678A>C (p.Tyr893Ser)
c.*2034A>C (n.*2034A>C)
n.2876A>C
c.2681A>C (p.Tyr894Ser)
c.1184A>C (p.Tyr395Ser)
c.809A>C (p.Tyr270Ser)
c.2615A>C (p.Tyr872Ser)
c.881A>C (p.Tyr294Ser)
c.677A>C (p.Tyr226Ser)
n.2799A>C
2g.27459421T=CA1240289072IFT172c.2744A= (p.Tyr915=)
c.*1917A= (n.*1917A=)
c.*759A= (n.*759A=)
c.*2341A= (n.*2341A=)
c.2063A= (p.Tyr688=)
c.2678A= (p.Tyr893=)
c.*2034A= (n.*2034A=)
n.2876A=
c.2681A= (p.Tyr894=)
c.1184A= (p.Tyr395=)
c.809A= (p.Tyr270=)
c.2615A= (p.Tyr872=)
c.881A= (p.Tyr294=)
c.677A= (p.Tyr226=)
n.2799A=
2g.27459422A>CCA346382233IFT172c.2743T>G (p.Tyr915Asp)
c.*1916T>G (n.*1916T>G)
c.*758T>G (n.*758T>G)
c.*2340T>G (n.*2340T>G)
c.2062T>G (p.Tyr688Asp)
c.2677T>G (p.Tyr893Asp)
c.*2033T>G (n.*2033T>G)
n.2875T>G
c.2680T>G (p.Tyr894Asp)
c.1183T>G (p.Tyr395Asp)
c.808T>G (p.Tyr270Asp)
c.2614T>G (p.Tyr872Asp)
c.880T>G (p.Tyr294Asp)
c.676T>G (p.Tyr226Asp)
n.2798T>G
2g.27459422A>GCA346382231IFT172c.2743T>C (p.Tyr915His)
c.*1916T>C (n.*1916T>C)
c.*758T>C (n.*758T>C)
c.*2340T>C (n.*2340T>C)
c.2062T>C (p.Tyr688His)
c.2677T>C (p.Tyr893His)
c.*2033T>C (n.*2033T>C)
n.2875T>C
c.2680T>C (p.Tyr894His)
c.1183T>C (p.Tyr395His)
c.808T>C (p.Tyr270His)
c.2614T>C (p.Tyr872His)
c.880T>C (p.Tyr294His)
c.676T>C (p.Tyr226His)
n.2798T>C
2g.27459422A>TCA346382232IFT172c.2743T>A (p.Tyr915Asn)
c.*1916T>A (n.*1916T>A)
c.*758T>A (n.*758T>A)
c.*2340T>A (n.*2340T>A)
c.2062T>A (p.Tyr688Asn)
c.2677T>A (p.Tyr893Asn)
c.*2033T>A (n.*2033T>A)
n.2875T>A
c.2680T>A (p.Tyr894Asn)
c.1183T>A (p.Tyr395Asn)
c.808T>A (p.Tyr270Asn)
c.2614T>A (p.Tyr872Asn)
c.880T>A (p.Tyr294Asn)
c.676T>A (p.Tyr226Asn)
n.2798T>A
2g.27459423G>ACA425404456IFT172c.2742C>T (p.Tyr914=)
c.*1915C>T (n.*1915C>T)
c.*757C>T (n.*757C>T)
c.*2339C>T (n.*2339C>T)
c.2061C>T (p.Tyr687=)
c.2676C>T (p.Tyr892=)
c.*2032C>T (n.*2032C>T)
n.2874C>T
c.2679C>T (p.Tyr893=)
c.1182C>T (p.Tyr394=)
c.807C>T (p.Tyr269=)
c.2613C>T (p.Tyr871=)
c.879C>T (p.Tyr293=)
c.675C>T (p.Tyr225=)
n.2797C>T
2g.27459423G>CCA346382234IFT172c.2742C>G (p.Tyr914Ter)
c.*1915C>G (n.*1915C>G)
c.*757C>G (n.*757C>G)
c.*2339C>G (n.*2339C>G)
c.2061C>G (p.Tyr687Ter)
c.2676C>G (p.Tyr892Ter)
c.*2032C>G (n.*2032C>G)
n.2874C>G
c.2679C>G (p.Tyr893Ter)
c.1182C>G (p.Tyr394Ter)
c.807C>G (p.Tyr269Ter)
c.2613C>G (p.Tyr871Ter)
c.879C>G (p.Tyr293Ter)
c.675C>G (p.Tyr225Ter)
n.2797C>G
 gnomAD v4
2g.27459423G>TCA346382235IFT172c.2742C>A (p.Tyr914Ter)
c.*1915C>A (n.*1915C>A)
c.*757C>A (n.*757C>A)
c.*2339C>A (n.*2339C>A)
c.2061C>A (p.Tyr687Ter)
c.2676C>A (p.Tyr892Ter)
c.*2032C>A (n.*2032C>A)
n.2874C>A
c.2679C>A (p.Tyr893Ter)
c.1182C>A (p.Tyr394Ter)
c.807C>A (p.Tyr269Ter)
c.2613C>A (p.Tyr871Ter)
c.879C>A (p.Tyr293Ter)
c.675C>A (p.Tyr225Ter)
n.2797C>A
2g.27459424T>ACA346382236IFT172c.2741A>T (p.Tyr914Phe)
c.*1914A>T (n.*1914A>T)
c.*756A>T (n.*756A>T)
c.*2338A>T (n.*2338A>T)
c.2060A>T (p.Tyr687Phe)
c.2675A>T (p.Tyr892Phe)
c.*2031A>T (n.*2031A>T)
n.2873A>T
c.2678A>T (p.Tyr893Phe)
c.1181A>T (p.Tyr394Phe)
c.806A>T (p.Tyr269Phe)
c.2612A>T (p.Tyr871Phe)
c.878A>T (p.Tyr293Phe)
c.674A>T (p.Tyr225Phe)
n.2796A>T
2g.27459424T>CCA346382237IFT172c.2741A>G (p.Tyr914Cys)
c.*1914A>G (n.*1914A>G)
c.*756A>G (n.*756A>G)
c.*2338A>G (n.*2338A>G)
c.2060A>G (p.Tyr687Cys)
c.2675A>G (p.Tyr892Cys)
c.*2031A>G (n.*2031A>G)
n.2873A>G
c.2678A>G (p.Tyr893Cys)
c.1181A>G (p.Tyr394Cys)
c.806A>G (p.Tyr269Cys)
c.2612A>G (p.Tyr871Cys)
c.878A>G (p.Tyr293Cys)
c.674A>G (p.Tyr225Cys)
n.2796A>G
 ClinVar dbSNP
2g.27459424T>GCA346382238IFT172c.2741A>C (p.Tyr914Ser)
c.*1914A>C (n.*1914A>C)
c.*756A>C (n.*756A>C)
c.*2338A>C (n.*2338A>C)
c.2060A>C (p.Tyr687Ser)
c.2675A>C (p.Tyr892Ser)
c.*2031A>C (n.*2031A>C)
n.2873A>C
c.2678A>C (p.Tyr893Ser)
c.1181A>C (p.Tyr394Ser)
c.806A>C (p.Tyr269Ser)
c.2612A>C (p.Tyr871Ser)
c.878A>C (p.Tyr293Ser)
c.674A>C (p.Tyr225Ser)
n.2796A>C
 gnomAD v4
2g.27459425A>CCA346382239IFT172c.2740T>G (p.Tyr914Asp)
c.*1913T>G (n.*1913T>G)
c.*755T>G (n.*755T>G)
c.*2337T>G (n.*2337T>G)
c.2059T>G (p.Tyr687Asp)
c.2674T>G (p.Tyr892Asp)
c.*2030T>G (n.*2030T>G)
n.2872T>G
c.2677T>G (p.Tyr893Asp)
c.1180T>G (p.Tyr394Asp)
c.805T>G (p.Tyr269Asp)
c.2611T>G (p.Tyr871Asp)
c.877T>G (p.Tyr293Asp)
c.673T>G (p.Tyr225Asp)
n.2795T>G
2g.27459425A>GCA346382240IFT172c.2740T>C (p.Tyr914His)
c.*1913T>C (n.*1913T>C)
c.*755T>C (n.*755T>C)
c.*2337T>C (n.*2337T>C)
c.2059T>C (p.Tyr687His)
c.2674T>C (p.Tyr892His)
c.*2030T>C (n.*2030T>C)
n.2872T>C
c.2677T>C (p.Tyr893His)
c.1180T>C (p.Tyr394His)
c.805T>C (p.Tyr269His)
c.2611T>C (p.Tyr871His)
c.877T>C (p.Tyr293His)
c.673T>C (p.Tyr225His)
n.2795T>C
 gnomAD v4
2g.27459425A>TCA346382241IFT172c.2740T>A (p.Tyr914Asn)
c.*1913T>A (n.*1913T>A)
c.*755T>A (n.*755T>A)
c.*2337T>A (n.*2337T>A)
c.2059T>A (p.Tyr687Asn)
c.2674T>A (p.Tyr892Asn)
c.*2030T>A (n.*2030T>A)
n.2872T>A
c.2677T>A (p.Tyr893Asn)
c.1180T>A (p.Tyr394Asn)
c.805T>A (p.Tyr269Asn)
c.2611T>A (p.Tyr871Asn)
c.877T>A (p.Tyr293Asn)
c.673T>A (p.Tyr225Asn)
n.2795T>A
2g.27459426T>ACA346382242IFT172c.2739A>T (p.Lys913Asn)
c.*1912A>T (n.*1912A>T)
c.*754A>T (n.*754A>T)
c.*2336A>T (n.*2336A>T)
c.2058A>T (p.Lys686Asn)
c.2673A>T (p.Lys891Asn)
c.*2029A>T (n.*2029A>T)
n.2871A>T
c.2676A>T (p.Lys892Asn)
c.1179A>T (p.Lys393Asn)
c.804A>T (p.Lys268Asn)
c.2610A>T (p.Lys870Asn)
c.876A>T (p.Lys292Asn)
c.672A>T (p.Lys224Asn)
n.2794A>T
2g.27459426T>CCA425404459IFT172c.2739A>G (p.Lys913=)
c.*1912A>G (n.*1912A>G)
c.*754A>G (n.*754A>G)
c.*2336A>G (n.*2336A>G)
c.2058A>G (p.Lys686=)
c.2673A>G (p.Lys891=)
c.*2029A>G (n.*2029A>G)
n.2871A>G
c.2676A>G (p.Lys892=)
c.1179A>G (p.Lys393=)
c.804A>G (p.Lys268=)
c.2610A>G (p.Lys870=)
c.876A>G (p.Lys292=)
c.672A>G (p.Lys224=)
n.2794A>G
 COSMIC
2g.27459426T>GCA346382243IFT172c.2739A>C (p.Lys913Asn)
c.*1912A>C (n.*1912A>C)
c.*754A>C (n.*754A>C)
c.*2336A>C (n.*2336A>C)
c.2058A>C (p.Lys686Asn)
c.2673A>C (p.Lys891Asn)
c.*2029A>C (n.*2029A>C)
n.2871A>C
c.2676A>C (p.Lys892Asn)
c.1179A>C (p.Lys393Asn)
c.804A>C (p.Lys268Asn)
c.2610A>C (p.Lys870Asn)
c.876A>C (p.Lys292Asn)
c.672A>C (p.Lys224Asn)
n.2794A>C
2g.27459427T>ACA346382245IFT172c.2738A>T (p.Lys913Ile)
c.*1911A>T (n.*1911A>T)
c.*753A>T (n.*753A>T)
c.*2335A>T (n.*2335A>T)
c.2057A>T (p.Lys686Ile)
c.2672A>T (p.Lys891Ile)
c.*2028A>T (n.*2028A>T)
n.2870A>T
c.2675A>T (p.Lys892Ile)
c.1178A>T (p.Lys393Ile)
c.803A>T (p.Lys268Ile)
c.2609A>T (p.Lys870Ile)
c.875A>T (p.Lys292Ile)
c.671A>T (p.Lys224Ile)
n.2793A>T
2g.27459427T>CCA346382246IFT172c.2738A>G (p.Lys913Arg)
c.*1911A>G (n.*1911A>G)
c.*753A>G (n.*753A>G)
c.*2335A>G (n.*2335A>G)
c.2057A>G (p.Lys686Arg)
c.2672A>G (p.Lys891Arg)
c.*2028A>G (n.*2028A>G)
n.2870A>G
c.2675A>G (p.Lys892Arg)
c.1178A>G (p.Lys393Arg)
c.803A>G (p.Lys268Arg)
c.2609A>G (p.Lys870Arg)
c.875A>G (p.Lys292Arg)
c.671A>G (p.Lys224Arg)
n.2793A>G
 gnomAD v4
2g.27459427T>GCA346382244IFT172c.2738A>C (p.Lys913Thr)
c.*1911A>C (n.*1911A>C)
c.*753A>C (n.*753A>C)
c.*2335A>C (n.*2335A>C)
c.2057A>C (p.Lys686Thr)
c.2672A>C (p.Lys891Thr)
c.*2028A>C (n.*2028A>C)
n.2870A>C
c.2675A>C (p.Lys892Thr)
c.1178A>C (p.Lys393Thr)
c.803A>C (p.Lys268Thr)
c.2609A>C (p.Lys870Thr)
c.875A>C (p.Lys292Thr)
c.671A>C (p.Lys224Thr)
n.2793A>C
2g.27459428T>ACA346382247IFT172c.2737A>T (p.Lys913Ter)
c.*1910A>T (n.*1910A>T)
c.*752A>T (n.*752A>T)
c.*2334A>T (n.*2334A>T)
c.2056A>T (p.Lys686Ter)
c.2671A>T (p.Lys891Ter)
c.*2027A>T (n.*2027A>T)
n.2869A>T
c.2674A>T (p.Lys892Ter)
c.1177A>T (p.Lys393Ter)
c.802A>T (p.Lys268Ter)
c.2608A>T (p.Lys870Ter)
c.874A>T (p.Lys292Ter)
c.670A>T (p.Lys224Ter)
n.2792A>T
2g.27459428T>CCA346382248IFT172c.2737A>G (p.Lys913Glu)
c.*1910A>G (n.*1910A>G)
c.*752A>G (n.*752A>G)
c.*2334A>G (n.*2334A>G)
c.2056A>G (p.Lys686Glu)
c.2671A>G (p.Lys891Glu)
c.*2027A>G (n.*2027A>G)
n.2869A>G
c.2674A>G (p.Lys892Glu)
c.1177A>G (p.Lys393Glu)
c.802A>G (p.Lys268Glu)
c.2608A>G (p.Lys870Glu)
c.874A>G (p.Lys292Glu)
c.670A>G (p.Lys224Glu)
n.2792A>G
2g.27459428T>GCA346382249IFT172c.2737A>C (p.Lys913Gln)
c.*1910A>C (n.*1910A>C)
c.*752A>C (n.*752A>C)
c.*2334A>C (n.*2334A>C)
c.2056A>C (p.Lys686Gln)
c.2671A>C (p.Lys891Gln)
c.*2027A>C (n.*2027A>C)
n.2869A>C
c.2674A>C (p.Lys892Gln)
c.1177A>C (p.Lys393Gln)
c.802A>C (p.Lys268Gln)
c.2608A>C (p.Lys870Gln)
c.874A>C (p.Lys292Gln)
c.670A>C (p.Lys224Gln)
n.2792A>C
2g.27459429G>ACA425404464IFT172c.2736C>T (p.Ser912=)
c.*1909C>T (n.*1909C>T)
c.*751C>T (n.*751C>T)
c.*2333C>T (n.*2333C>T)
c.2055C>T (p.Ser685=)
c.2670C>T (p.Ser890=)
c.*2026C>T (n.*2026C>T)
n.2868C>T
c.2673C>T (p.Ser891=)
c.1176C>T (p.Ser392=)
c.801C>T (p.Ser267=)
c.2607C>T (p.Ser869=)
c.873C>T (p.Ser291=)
c.669C>T (p.Ser223=)
n.2791C>T
2g.27459429G>CCA425404466IFT172c.2736C>G (p.Ser912=)
c.*1909C>G (n.*1909C>G)
c.*751C>G (n.*751C>G)
c.*2333C>G (n.*2333C>G)
c.2055C>G (p.Ser685=)
c.2670C>G (p.Ser890=)
c.*2026C>G (n.*2026C>G)
n.2868C>G
c.2673C>G (p.Ser891=)
c.1176C>G (p.Ser392=)
c.801C>G (p.Ser267=)
c.2607C>G (p.Ser869=)
c.873C>G (p.Ser291=)
c.669C>G (p.Ser223=)
n.2791C>G
2g.27459429G>TCA425404468IFT172c.2736C>A (p.Ser912=)
c.*1909C>A (n.*1909C>A)
c.*751C>A (n.*751C>A)
c.*2333C>A (n.*2333C>A)
c.2055C>A (p.Ser685=)
c.2670C>A (p.Ser890=)
c.*2026C>A (n.*2026C>A)
n.2868C>A
c.2673C>A (p.Ser891=)
c.1176C>A (p.Ser392=)
c.801C>A (p.Ser267=)
c.2607C>A (p.Ser869=)
c.873C>A (p.Ser291=)
c.669C>A (p.Ser223=)
n.2791C>A
2g.27459430G>ACA346382250IFT172c.2735C>T (p.Ser912Phe)
c.*1908C>T (n.*1908C>T)
c.*750C>T (n.*750C>T)
c.*2332C>T (n.*2332C>T)
c.2054C>T (p.Ser685Phe)
c.2669C>T (p.Ser890Phe)
c.*2025C>T (n.*2025C>T)
n.2867C>T
c.2672C>T (p.Ser891Phe)
c.1175C>T (p.Ser392Phe)
c.800C>T (p.Ser267Phe)
c.2606C>T (p.Ser869Phe)
c.872C>T (p.Ser291Phe)
c.668C>T (p.Ser223Phe)
n.2790C>T
2g.27459430G>CCA346382251IFT172c.2735C>G (p.Ser912Cys)
c.*1908C>G (n.*1908C>G)
c.*750C>G (n.*750C>G)
c.*2332C>G (n.*2332C>G)
c.2054C>G (p.Ser685Cys)
c.2669C>G (p.Ser890Cys)
c.*2025C>G (n.*2025C>G)
n.2867C>G
c.2672C>G (p.Ser891Cys)
c.1175C>G (p.Ser392Cys)
c.800C>G (p.Ser267Cys)
c.2606C>G (p.Ser869Cys)
c.872C>G (p.Ser291Cys)
c.668C>G (p.Ser223Cys)
n.2790C>G
 gnomAD v4
2g.27459430G>TCA346382252IFT172c.2735C>A (p.Ser912Tyr)
c.*1908C>A (n.*1908C>A)
c.*750C>A (n.*750C>A)
c.*2332C>A (n.*2332C>A)
c.2054C>A (p.Ser685Tyr)
c.2669C>A (p.Ser890Tyr)
c.*2025C>A (n.*2025C>A)
n.2867C>A
c.2672C>A (p.Ser891Tyr)
c.1175C>A (p.Ser392Tyr)
c.800C>A (p.Ser267Tyr)
c.2606C>A (p.Ser869Tyr)
c.872C>A (p.Ser291Tyr)
c.668C>A (p.Ser223Tyr)
n.2790C>A
2g.27459431A>CCA346382253IFT172c.2734T>G (p.Ser912Ala)
c.*1907T>G (n.*1907T>G)
c.*749T>G (n.*749T>G)
c.*2331T>G (n.*2331T>G)
c.2053T>G (p.Ser685Ala)
c.2668T>G (p.Ser890Ala)
c.*2024T>G (n.*2024T>G)
n.2866T>G
c.2671T>G (p.Ser891Ala)
c.1174T>G (p.Ser392Ala)
c.799T>G (p.Ser267Ala)
c.2605T>G (p.Ser869Ala)
c.871T>G (p.Ser291Ala)
c.667T>G (p.Ser223Ala)
n.2789T>G
2g.27459431A>GCA346382254IFT172c.2734T>C (p.Ser912Pro)
c.*1907T>C (n.*1907T>C)
c.*749T>C (n.*749T>C)
c.*2331T>C (n.*2331T>C)
c.2053T>C (p.Ser685Pro)
c.2668T>C (p.Ser890Pro)
c.*2024T>C (n.*2024T>C)
n.2866T>C
c.2671T>C (p.Ser891Pro)
c.1174T>C (p.Ser392Pro)
c.799T>C (p.Ser267Pro)
c.2605T>C (p.Ser869Pro)
c.871T>C (p.Ser291Pro)
c.667T>C (p.Ser223Pro)
n.2789T>C
2g.27459431A>TCA346382255IFT172c.2734T>A (p.Ser912Thr)
c.*1907T>A (n.*1907T>A)
c.*749T>A (n.*749T>A)
c.*2331T>A (n.*2331T>A)
c.2053T>A (p.Ser685Thr)
c.2668T>A (p.Ser890Thr)
c.*2024T>A (n.*2024T>A)
n.2866T>A
c.2671T>A (p.Ser891Thr)
c.1174T>A (p.Ser392Thr)
c.799T>A (p.Ser267Thr)
c.2605T>A (p.Ser869Thr)
c.871T>A (p.Ser291Thr)
c.667T>A (p.Ser223Thr)
n.2789T>A
2g.27459432T>ACA425404477IFT172c.2733A>T (p.Ala911=)
c.*1906A>T (n.*1906A>T)
c.*748A>T (n.*748A>T)
c.*2330A>T (n.*2330A>T)
c.2052A>T (p.Ala684=)
c.2667A>T (p.Ala889=)
c.*2023A>T (n.*2023A>T)
n.2865A>T
c.2670A>T (p.Ala890=)
c.1173A>T (p.Ala391=)
c.798A>T (p.Ala266=)
c.2604A>T (p.Ala868=)
c.870A>T (p.Ala290=)
c.666A>T (p.Ala222=)
n.2788A>T
2g.27459432T>CCA44494733IFT172c.2733A>G (p.Ala911=)
c.*1906A>G (n.*1906A>G)
c.*748A>G (n.*748A>G)
c.*2330A>G (n.*2330A>G)
c.2052A>G (p.Ala684=)
c.2667A>G (p.Ala889=)
c.*2023A>G (n.*2023A>G)
n.2865A>G
c.2670A>G (p.Ala890=)
c.1173A>G (p.Ala391=)
c.798A>G (p.Ala266=)
c.2604A>G (p.Ala868=)
c.870A>G (p.Ala290=)
c.666A>G (p.Ala222=)
n.2788A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27459432T>GCA425404486IFT172c.2733A>C (p.Ala911=)
c.*1906A>C (n.*1906A>C)
c.*748A>C (n.*748A>C)
c.*2330A>C (n.*2330A>C)
c.2052A>C (p.Ala684=)
c.2667A>C (p.Ala889=)
c.*2023A>C (n.*2023A>C)
n.2865A>C
c.2670A>C (p.Ala890=)
c.1173A>C (p.Ala391=)
c.798A>C (p.Ala266=)
c.2604A>C (p.Ala868=)
c.870A>C (p.Ala290=)
c.666A>C (p.Ala222=)
n.2788A>C
 dbSNP gnomAD v2 gnomAD v4
2g.27459432T=CA1240289073IFT172c.2733A= (p.Ala911=)
c.*1906A= (n.*1906A=)
c.*748A= (n.*748A=)
c.*2330A= (n.*2330A=)
c.2052A= (p.Ala684=)
c.2667A= (p.Ala889=)
c.*2023A= (n.*2023A=)
n.2865A=
c.2670A= (p.Ala890=)
c.1173A= (p.Ala391=)
c.798A= (p.Ala266=)
c.2604A= (p.Ala868=)
c.870A= (p.Ala290=)
c.666A= (p.Ala222=)
n.2788A=
2g.27459433G>ACA346382256IFT172c.2732C>T (p.Ala911Val)
c.*1905C>T (n.*1905C>T)
c.*747C>T (n.*747C>T)
c.*2329C>T (n.*2329C>T)
c.2051C>T (p.Ala684Val)
c.2666C>T (p.Ala889Val)
c.*2022C>T (n.*2022C>T)
n.2864C>T
c.2669C>T (p.Ala890Val)
c.1172C>T (p.Ala391Val)
c.797C>T (p.Ala266Val)
c.2603C>T (p.Ala868Val)
c.869C>T (p.Ala290Val)
c.665C>T (p.Ala222Val)
n.2787C>T
2g.27459433G>CCA346382257IFT172c.2732C>G (p.Ala911Gly)
c.*1905C>G (n.*1905C>G)
c.*747C>G (n.*747C>G)
c.*2329C>G (n.*2329C>G)
c.2051C>G (p.Ala684Gly)
c.2666C>G (p.Ala889Gly)
c.*2022C>G (n.*2022C>G)
n.2864C>G
c.2669C>G (p.Ala890Gly)
c.1172C>G (p.Ala391Gly)
c.797C>G (p.Ala266Gly)
c.2603C>G (p.Ala868Gly)
c.869C>G (p.Ala290Gly)
c.665C>G (p.Ala222Gly)
n.2787C>G
2g.27459433G>TCA346382258IFT172c.2732C>A (p.Ala911Glu)
c.*1905C>A (n.*1905C>A)
c.*747C>A (n.*747C>A)
c.*2329C>A (n.*2329C>A)
c.2051C>A (p.Ala684Glu)
c.2666C>A (p.Ala889Glu)
c.*2022C>A (n.*2022C>A)
n.2864C>A
c.2669C>A (p.Ala890Glu)
c.1172C>A (p.Ala391Glu)
c.797C>A (p.Ala266Glu)
c.2603C>A (p.Ala868Glu)
c.869C>A (p.Ala290Glu)
c.665C>A (p.Ala222Glu)
n.2787C>A
 gnomAD v4
2g.27459434C>ACA346382261IFT172c.2731G>T (p.Ala911Ser)
c.*1904G>T (n.*1904G>T)
c.*746G>T (n.*746G>T)
c.*2328G>T (n.*2328G>T)
c.2050G>T (p.Ala684Ser)
c.2665G>T (p.Ala889Ser)
c.*2021G>T (n.*2021G>T)
n.2863G>T
c.2668G>T (p.Ala890Ser)
c.1171G>T (p.Ala391Ser)
c.796G>T (p.Ala266Ser)
c.2602G>T (p.Ala868Ser)
c.868G>T (p.Ala290Ser)
c.664G>T (p.Ala222Ser)
n.2786G>T
2g.27459434C=CA1240289074IFT172c.2731G= (p.Ala911=)
c.*1904G= (n.*1904G=)
c.*746G= (n.*746G=)
c.*2328G= (n.*2328G=)
c.2050G= (p.Ala684=)
c.2665G= (p.Ala889=)
c.*2021G= (n.*2021G=)
n.2863G=
c.2668G= (p.Ala890=)
c.1171G= (p.Ala391=)
c.796G= (p.Ala266=)
c.2602G= (p.Ala868=)
c.868G= (p.Ala290=)
c.664G= (p.Ala222=)
n.2786G=
2g.27459434C>GCA346382260IFT172c.2731G>C (p.Ala911Pro)
c.*1904G>C (n.*1904G>C)
c.*746G>C (n.*746G>C)
c.*2328G>C (n.*2328G>C)
c.2050G>C (p.Ala684Pro)
c.2665G>C (p.Ala889Pro)
c.*2021G>C (n.*2021G>C)
n.2863G>C
c.2668G>C (p.Ala890Pro)
c.1171G>C (p.Ala391Pro)
c.796G>C (p.Ala266Pro)
c.2602G>C (p.Ala868Pro)
c.868G>C (p.Ala290Pro)
c.664G>C (p.Ala222Pro)
n.2786G>C
2g.27459434C>TCA346382259IFT172c.2731G>A (p.Ala911Thr)
c.*1904G>A (n.*1904G>A)
c.*746G>A (n.*746G>A)
c.*2328G>A (n.*2328G>A)
c.2050G>A (p.Ala684Thr)
c.2665G>A (p.Ala889Thr)
c.*2021G>A (n.*2021G>A)
n.2863G>A
c.2668G>A (p.Ala890Thr)
c.1171G>A (p.Ala391Thr)
c.796G>A (p.Ala266Thr)
c.2602G>A (p.Ala868Thr)
c.868G>A (p.Ala290Thr)
c.664G>A (p.Ala222Thr)
n.2786G>A
 dbSNP gnomAD v4
2g.27459435A=CA1240289075IFT172c.2730T= (p.Thr910=)
c.*1903T= (n.*1903T=)
c.*745T= (n.*745T=)
c.*2327T= (n.*2327T=)
c.2049T= (p.Thr683=)
c.2664T= (p.Thr888=)
c.*2020T= (n.*2020T=)
n.2862T=
c.2667T= (p.Thr889=)
c.1170T= (p.Thr390=)
c.795T= (p.Thr265=)
c.2601T= (p.Thr867=)
c.867T= (p.Thr289=)
c.663T= (p.Thr221=)
n.2785T=
2g.27459435A>CCA1580205IFT172c.2730T>G (p.Thr910=)
c.*1903T>G (n.*1903T>G)
c.*745T>G (n.*745T>G)
c.*2327T>G (n.*2327T>G)
c.2049T>G (p.Thr683=)
c.2664T>G (p.Thr888=)
c.*2020T>G (n.*2020T>G)
n.2862T>G
c.2667T>G (p.Thr889=)
c.1170T>G (p.Thr390=)
c.795T>G (p.Thr265=)
c.2601T>G (p.Thr867=)
c.867T>G (p.Thr289=)
c.663T>G (p.Thr221=)
n.2785T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27459435A>GCA425404496IFT172c.2730T>C (p.Thr910=)
c.*1903T>C (n.*1903T>C)
c.*745T>C (n.*745T>C)
c.*2327T>C (n.*2327T>C)
c.2049T>C (p.Thr683=)
c.2664T>C (p.Thr888=)
c.*2020T>C (n.*2020T>C)
n.2862T>C
c.2667T>C (p.Thr889=)
c.1170T>C (p.Thr390=)
c.795T>C (p.Thr265=)
c.2601T>C (p.Thr867=)
c.867T>C (p.Thr289=)
c.663T>C (p.Thr221=)
n.2785T>C
2g.27459435A>TCA425404497IFT172c.2730T>A (p.Thr910=)
c.*1903T>A (n.*1903T>A)
c.*745T>A (n.*745T>A)
c.*2327T>A (n.*2327T>A)
c.2049T>A (p.Thr683=)
c.2664T>A (p.Thr888=)
c.*2020T>A (n.*2020T>A)
n.2862T>A
c.2667T>A (p.Thr889=)
c.1170T>A (p.Thr390=)
c.795T>A (p.Thr265=)
c.2601T>A (p.Thr867=)
c.867T>A (p.Thr289=)
c.663T>A (p.Thr221=)
n.2785T>A
2g.27459436G>ACA346382262IFT172c.2729C>T (p.Thr910Ile)
c.*1902C>T (n.*1902C>T)
c.*744C>T (n.*744C>T)
c.*2326C>T (n.*2326C>T)
c.2048C>T (p.Thr683Ile)
c.2663C>T (p.Thr888Ile)
c.*2019C>T (n.*2019C>T)
n.2861C>T
c.2666C>T (p.Thr889Ile)
c.1169C>T (p.Thr390Ile)
c.794C>T (p.Thr265Ile)
c.2600C>T (p.Thr867Ile)
c.866C>T (p.Thr289Ile)
c.662C>T (p.Thr221Ile)
n.2784C>T
2g.27459436G>CCA346382263IFT172c.2729C>G (p.Thr910Ser)
c.*1902C>G (n.*1902C>G)
c.*744C>G (n.*744C>G)
c.*2326C>G (n.*2326C>G)
c.2048C>G (p.Thr683Ser)
c.2663C>G (p.Thr888Ser)
c.*2019C>G (n.*2019C>G)
n.2861C>G
c.2666C>G (p.Thr889Ser)
c.1169C>G (p.Thr390Ser)
c.794C>G (p.Thr265Ser)
c.2600C>G (p.Thr867Ser)
c.866C>G (p.Thr289Ser)
c.662C>G (p.Thr221Ser)
n.2784C>G
2g.27459436G>TCA346382264IFT172c.2729C>A (p.Thr910Asn)
c.*1902C>A (n.*1902C>A)
c.*744C>A (n.*744C>A)
c.*2326C>A (n.*2326C>A)
c.2048C>A (p.Thr683Asn)
c.2663C>A (p.Thr888Asn)
c.*2019C>A (n.*2019C>A)
n.2861C>A
c.2666C>A (p.Thr889Asn)
c.1169C>A (p.Thr390Asn)
c.794C>A (p.Thr265Asn)
c.2600C>A (p.Thr867Asn)
c.866C>A (p.Thr289Asn)
c.662C>A (p.Thr221Asn)
n.2784C>A
2g.27459437T>ACA346382265IFT172c.2728A>T (p.Thr910Ser)
c.*1901A>T (n.*1901A>T)
c.*743A>T (n.*743A>T)
c.*2325A>T (n.*2325A>T)
c.2047A>T (p.Thr683Ser)
c.2662A>T (p.Thr888Ser)
c.*2018A>T (n.*2018A>T)
n.2860A>T
c.2665A>T (p.Thr889Ser)
c.1168A>T (p.Thr390Ser)
c.793A>T (p.Thr265Ser)
c.2599A>T (p.Thr867Ser)
c.865A>T (p.Thr289Ser)
c.661A>T (p.Thr221Ser)
n.2783A>T
2g.27459437T>CCA346382266IFT172c.2728A>G (p.Thr910Ala)
c.*1901A>G (n.*1901A>G)
c.*743A>G (n.*743A>G)
c.*2325A>G (n.*2325A>G)
c.2047A>G (p.Thr683Ala)
c.2662A>G (p.Thr888Ala)
c.*2018A>G (n.*2018A>G)
n.2860A>G
c.2665A>G (p.Thr889Ala)
c.1168A>G (p.Thr390Ala)
c.793A>G (p.Thr265Ala)
c.2599A>G (p.Thr867Ala)
c.865A>G (p.Thr289Ala)
c.661A>G (p.Thr221Ala)
n.2783A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27459437T>GCA346382267IFT172c.2728A>C (p.Thr910Pro)
c.*1901A>C (n.*1901A>C)
c.*743A>C (n.*743A>C)
c.*2325A>C (n.*2325A>C)
c.2047A>C (p.Thr683Pro)
c.2662A>C (p.Thr888Pro)
c.*2018A>C (n.*2018A>C)
n.2860A>C
c.2665A>C (p.Thr889Pro)
c.1168A>C (p.Thr390Pro)
c.793A>C (p.Thr265Pro)
c.2599A>C (p.Thr867Pro)
c.865A>C (p.Thr289Pro)
c.661A>C (p.Thr221Pro)
n.2783A>C
2g.27459437T=CA1240289076IFT172c.2728A= (p.Thr910=)
c.*1901A= (n.*1901A=)
c.*743A= (n.*743A=)
c.*2325A= (n.*2325A=)
c.2047A= (p.Thr683=)
c.2662A= (p.Thr888=)
c.*2018A= (n.*2018A=)
n.2860A=
c.2665A= (p.Thr889=)
c.1168A= (p.Thr390=)
c.793A= (p.Thr265=)
c.2599A= (p.Thr867=)
c.865A= (p.Thr289=)
c.661A= (p.Thr221=)
n.2783A=
2g.27459438G>ACA425404506IFT172c.2727C>T (p.Asn909=)
c.*1900C>T (n.*1900C>T)
c.*742C>T (n.*742C>T)
c.*2324C>T (n.*2324C>T)
c.2046C>T (p.Asn682=)
c.2661C>T (p.Asn887=)
c.*2017C>T (n.*2017C>T)
n.2859C>T
c.2664C>T (p.Asn888=)
c.1167C>T (p.Asn389=)
c.792C>T (p.Asn264=)
c.2598C>T (p.Asn866=)
c.864C>T (p.Asn288=)
c.660C>T (p.Asn220=)
n.2782C>T
2g.27459438G>CCA346382268IFT172c.2727C>G (p.Asn909Lys)
c.*1900C>G (n.*1900C>G)
c.*742C>G (n.*742C>G)
c.*2324C>G (n.*2324C>G)
c.2046C>G (p.Asn682Lys)
c.2661C>G (p.Asn887Lys)
c.*2017C>G (n.*2017C>G)
n.2859C>G
c.2664C>G (p.Asn888Lys)
c.1167C>G (p.Asn389Lys)
c.792C>G (p.Asn264Lys)
c.2598C>G (p.Asn866Lys)
c.864C>G (p.Asn288Lys)
c.660C>G (p.Asn220Lys)
n.2782C>G
 gnomAD v4
2g.27459438G>TCA346382269IFT172c.2727C>A (p.Asn909Lys)
c.*1900C>A (n.*1900C>A)
c.*742C>A (n.*742C>A)
c.*2324C>A (n.*2324C>A)
c.2046C>A (p.Asn682Lys)
c.2661C>A (p.Asn887Lys)
c.*2017C>A (n.*2017C>A)
n.2859C>A
c.2664C>A (p.Asn888Lys)
c.1167C>A (p.Asn389Lys)
c.792C>A (p.Asn264Lys)
c.2598C>A (p.Asn866Lys)
c.864C>A (p.Asn288Lys)
c.660C>A (p.Asn220Lys)
n.2782C>A
2g.27459439T>ACA346382270IFT172c.2726A>T (p.Asn909Ile)
c.*1899A>T (n.*1899A>T)
c.*741A>T (n.*741A>T)
c.*2323A>T (n.*2323A>T)
c.2045A>T (p.Asn682Ile)
c.2660A>T (p.Asn887Ile)
c.*2016A>T (n.*2016A>T)
n.2858A>T
c.2663A>T (p.Asn888Ile)
c.1166A>T (p.Asn389Ile)
c.791A>T (p.Asn264Ile)
c.2597A>T (p.Asn866Ile)
c.863A>T (p.Asn288Ile)
c.659A>T (p.Asn220Ile)
n.2781A>T
2g.27459439T>CCA44494746IFT172c.2726A>G (p.Asn909Ser)
c.*1899A>G (n.*1899A>G)
c.*741A>G (n.*741A>G)
c.*2323A>G (n.*2323A>G)
c.2045A>G (p.Asn682Ser)
c.2660A>G (p.Asn887Ser)
c.*2016A>G (n.*2016A>G)
n.2858A>G
c.2663A>G (p.Asn888Ser)
c.1166A>G (p.Asn389Ser)
c.791A>G (p.Asn264Ser)
c.2597A>G (p.Asn866Ser)
c.863A>G (p.Asn288Ser)
c.659A>G (p.Asn220Ser)
n.2781A>G
 dbSNP gnomAD v4
2g.27459439T>GCA346382271IFT172c.2726A>C (p.Asn909Thr)
c.*1899A>C (n.*1899A>C)
c.*741A>C (n.*741A>C)
c.*2323A>C (n.*2323A>C)
c.2045A>C (p.Asn682Thr)
c.2660A>C (p.Asn887Thr)
c.*2016A>C (n.*2016A>C)
n.2858A>C
c.2663A>C (p.Asn888Thr)
c.1166A>C (p.Asn389Thr)
c.791A>C (p.Asn264Thr)
c.2597A>C (p.Asn866Thr)
c.863A>C (p.Asn288Thr)
c.659A>C (p.Asn220Thr)
n.2781A>C
2g.27459439T=CA1240289077IFT172c.2726A= (p.Asn909=)
c.*1899A= (n.*1899A=)
c.*741A= (n.*741A=)
c.*2323A= (n.*2323A=)
c.2045A= (p.Asn682=)
c.2660A= (p.Asn887=)
c.*2016A= (n.*2016A=)
n.2858A=
c.2663A= (p.Asn888=)
c.1166A= (p.Asn389=)
c.791A= (p.Asn264=)
c.2597A= (p.Asn866=)
c.863A= (p.Asn288=)
c.659A= (p.Asn220=)
n.2781A=
2g.27459440T>ACA346382274IFT172c.2725A>T (p.Asn909Tyr)
c.*1898A>T (n.*1898A>T)
c.*740A>T (n.*740A>T)
c.*2322A>T (n.*2322A>T)
c.2044A>T (p.Asn682Tyr)
c.2659A>T (p.Asn887Tyr)
c.*2015A>T (n.*2015A>T)
n.2857A>T
c.2662A>T (p.Asn888Tyr)
c.1165A>T (p.Asn389Tyr)
c.790A>T (p.Asn264Tyr)
c.2596A>T (p.Asn866Tyr)
c.862A>T (p.Asn288Tyr)
c.658A>T (p.Asn220Tyr)
n.2780A>T
2g.27459440T>CCA346382273IFT172c.2725A>G (p.Asn909Asp)
c.*1898A>G (n.*1898A>G)
c.*740A>G (n.*740A>G)
c.*2322A>G (n.*2322A>G)
c.2044A>G (p.Asn682Asp)
c.2659A>G (p.Asn887Asp)
c.*2015A>G (n.*2015A>G)
n.2857A>G
c.2662A>G (p.Asn888Asp)
c.1165A>G (p.Asn389Asp)
c.790A>G (p.Asn264Asp)
c.2596A>G (p.Asn866Asp)
c.862A>G (p.Asn288Asp)
c.658A>G (p.Asn220Asp)
n.2780A>G
2g.27459440T>GCA346382272IFT172c.2725A>C (p.Asn909His)
c.*1898A>C (n.*1898A>C)
c.*740A>C (n.*740A>C)
c.*2322A>C (n.*2322A>C)
c.2044A>C (p.Asn682His)
c.2659A>C (p.Asn887His)
c.*2015A>C (n.*2015A>C)
n.2857A>C
c.2662A>C (p.Asn888His)
c.1165A>C (p.Asn389His)
c.790A>C (p.Asn264His)
c.2596A>C (p.Asn866His)
c.862A>C (p.Asn288His)
c.658A>C (p.Asn220His)
n.2780A>C
2g.27459441C>ACA425404530IFT172c.2724G>T (p.Arg908=)
c.*1897G>T (n.*1897G>T)
c.*739G>T (n.*739G>T)
c.*2321G>T (n.*2321G>T)
c.2043G>T (p.Arg681=)
c.2658G>T (p.Arg886=)
c.*2014G>T (n.*2014G>T)
n.2856G>T
c.2661G>T (p.Arg887=)
c.1164G>T (p.Arg388=)
c.789G>T (p.Arg263=)
c.2595G>T (p.Arg865=)
c.861G>T (p.Arg287=)
c.657G>T (p.Arg219=)
n.2779G>T
2g.27459441C=CA1240289078IFT172c.2724G= (p.Arg908=)
c.*1897G= (n.*1897G=)
c.*739G= (n.*739G=)
c.*2321G= (n.*2321G=)
c.2043G= (p.Arg681=)
c.2658G= (p.Arg886=)
c.*2014G= (n.*2014G=)
n.2856G=
c.2661G= (p.Arg887=)
c.1164G= (p.Arg388=)
c.789G= (p.Arg263=)
c.2595G= (p.Arg865=)
c.861G= (p.Arg287=)
c.657G= (p.Arg219=)
n.2779G=
2g.27459441C>GCA425404535IFT172c.2724G>C (p.Arg908=)
c.*1897G>C (n.*1897G>C)
c.*739G>C (n.*739G>C)
c.*2321G>C (n.*2321G>C)
c.2043G>C (p.Arg681=)
c.2658G>C (p.Arg886=)
c.*2014G>C (n.*2014G>C)
n.2856G>C
c.2661G>C (p.Arg887=)
c.1164G>C (p.Arg388=)
c.789G>C (p.Arg263=)
c.2595G>C (p.Arg865=)
c.861G>C (p.Arg287=)
c.657G>C (p.Arg219=)
n.2779G>C
2g.27459441C>TCA44494758IFT172c.2724G>A (p.Arg908=)
c.*1897G>A (n.*1897G>A)
c.*739G>A (n.*739G>A)
c.*2321G>A (n.*2321G>A)
c.2043G>A (p.Arg681=)
c.2658G>A (p.Arg886=)
c.*2014G>A (n.*2014G>A)
n.2856G>A
c.2661G>A (p.Arg887=)
c.1164G>A (p.Arg388=)
c.789G>A (p.Arg263=)
c.2595G>A (p.Arg865=)
c.861G>A (p.Arg287=)
c.657G>A (p.Arg219=)
n.2779G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.27459442C>ACA346382275IFT172c.2723G>T (p.Arg908Leu)
c.*1896G>T (n.*1896G>T)
c.*738G>T (n.*738G>T)
c.*2320G>T (n.*2320G>T)
c.2042G>T (p.Arg681Leu)
c.2657G>T (p.Arg886Leu)
c.*2013G>T (n.*2013G>T)
n.2855G>T
c.2660G>T (p.Arg887Leu)
c.1163G>T (p.Arg388Leu)
c.788G>T (p.Arg263Leu)
c.2594G>T (p.Arg865Leu)
c.860G>T (p.Arg287Leu)
c.656G>T (p.Arg219Leu)
n.2778G>T
2g.27459442C=CA1240289079IFT172c.2723G= (p.Arg908=)
c.*1896G= (n.*1896G=)
c.*738G= (n.*738G=)
c.*2320G= (n.*2320G=)
c.2042G= (p.Arg681=)
c.2657G= (p.Arg886=)
c.*2013G= (n.*2013G=)
n.2855G=
c.2660G= (p.Arg887=)
c.1163G= (p.Arg388=)
c.788G= (p.Arg263=)
c.2594G= (p.Arg865=)
c.860G= (p.Arg287=)
c.656G= (p.Arg219=)
n.2778G=
2g.27459442C>GCA346382276IFT172c.2723G>C (p.Arg908Pro)
c.*1896G>C (n.*1896G>C)
c.*738G>C (n.*738G>C)
c.*2320G>C (n.*2320G>C)
c.2042G>C (p.Arg681Pro)
c.2657G>C (p.Arg886Pro)
c.*2013G>C (n.*2013G>C)
n.2855G>C
c.2660G>C (p.Arg887Pro)
c.1163G>C (p.Arg388Pro)
c.788G>C (p.Arg263Pro)
c.2594G>C (p.Arg865Pro)
c.860G>C (p.Arg287Pro)
c.656G>C (p.Arg219Pro)
n.2778G>C
2g.27459442C>TCA1580206IFT172c.2723G>A (p.Arg908Gln)
c.*1896G>A (n.*1896G>A)
c.*738G>A (n.*738G>A)
c.*2320G>A (n.*2320G>A)
c.2042G>A (p.Arg681Gln)
c.2657G>A (p.Arg886Gln)
c.*2013G>A (n.*2013G>A)
n.2855G>A
c.2660G>A (p.Arg887Gln)
c.1163G>A (p.Arg388Gln)
c.788G>A (p.Arg263Gln)
c.2594G>A (p.Arg865Gln)
c.860G>A (p.Arg287Gln)
c.656G>A (p.Arg219Gln)
n.2778G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.27459443G>ACA1580207IFT172c.2722C>T (p.Arg908Trp)
c.*1895C>T (n.*1895C>T)
c.*737C>T (n.*737C>T)
c.*2319C>T (n.*2319C>T)
c.2041C>T (p.Arg681Trp)
c.2656C>T (p.Arg886Trp)
c.*2012C>T (n.*2012C>T)
n.2854C>T
c.2659C>T (p.Arg887Trp)
c.1162C>T (p.Arg388Trp)
c.787C>T (p.Arg263Trp)
c.2593C>T (p.Arg865Trp)
c.859C>T (p.Arg287Trp)
c.655C>T (p.Arg219Trp)
n.2777C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27459443G>CCA346382277IFT172c.2722C>G (p.Arg908Gly)
c.*1895C>G (n.*1895C>G)
c.*737C>G (n.*737C>G)
c.*2319C>G (n.*2319C>G)
c.2041C>G (p.Arg681Gly)
c.2656C>G (p.Arg886Gly)
c.*2012C>G (n.*2012C>G)
n.2854C>G
c.2659C>G (p.Arg887Gly)
c.1162C>G (p.Arg388Gly)
c.787C>G (p.Arg263Gly)
c.2593C>G (p.Arg865Gly)
c.859C>G (p.Arg287Gly)
c.655C>G (p.Arg219Gly)
n.2777C>G
2g.27459443G=CA1240289080IFT172c.2722C= (p.Arg908=)
c.*1895C= (n.*1895C=)
c.*737C= (n.*737C=)
c.*2319C= (n.*2319C=)
c.2041C= (p.Arg681=)
c.2656C= (p.Arg886=)
c.*2012C= (n.*2012C=)
n.2854C=
c.2659C= (p.Arg887=)
c.1162C= (p.Arg388=)
c.787C= (p.Arg263=)
c.2593C= (p.Arg865=)
c.859C= (p.Arg287=)
c.655C= (p.Arg219=)
n.2777C=
2g.27459443G>TCA425404543IFT172c.2722C>A (p.Arg908=)
c.*1895C>A (n.*1895C>A)
c.*737C>A (n.*737C>A)
c.*2319C>A (n.*2319C>A)
c.2041C>A (p.Arg681=)
c.2656C>A (p.Arg886=)
c.*2012C>A (n.*2012C>A)
n.2854C>A
c.2659C>A (p.Arg887=)
c.1162C>A (p.Arg388=)
c.787C>A (p.Arg263=)
c.2593C>A (p.Arg865=)
c.859C>A (p.Arg287=)
c.655C>A (p.Arg219=)
n.2777C>A
2g.27459444G>ACA425404545IFT172c.2721C>T (p.Asp907=)
c.*1894C>T (n.*1894C>T)
c.*736C>T (n.*736C>T)
c.*2318C>T (n.*2318C>T)
c.2040C>T (p.Asp680=)
c.2655C>T (p.Asp885=)
c.*2011C>T (n.*2011C>T)
n.2853C>T
c.2658C>T (p.Asp886=)
c.1161C>T (p.Asp387=)
c.786C>T (p.Asp262=)
c.2592C>T (p.Asp864=)
c.858C>T (p.Asp286=)
c.654C>T (p.Asp218=)
n.2776C>T
2g.27459444G>CCA346382278IFT172c.2721C>G (p.Asp907Glu)
c.*1894C>G (n.*1894C>G)
c.*736C>G (n.*736C>G)
c.*2318C>G (n.*2318C>G)
c.2040C>G (p.Asp680Glu)
c.2655C>G (p.Asp885Glu)
c.*2011C>G (n.*2011C>G)
n.2853C>G
c.2658C>G (p.Asp886Glu)
c.1161C>G (p.Asp387Glu)
c.786C>G (p.Asp262Glu)
c.2592C>G (p.Asp864Glu)
c.858C>G (p.Asp286Glu)
c.654C>G (p.Asp218Glu)
n.2776C>G
2g.27459444G=CA1240289081IFT172c.2721C= (p.Asp907=)
c.*1894C= (n.*1894C=)
c.*736C= (n.*736C=)
c.*2318C= (n.*2318C=)
c.2040C= (p.Asp680=)
c.2655C= (p.Asp885=)
c.*2011C= (n.*2011C=)
n.2853C=
c.2658C= (p.Asp886=)
c.1161C= (p.Asp387=)
c.786C= (p.Asp262=)
c.2592C= (p.Asp864=)
c.858C= (p.Asp286=)
c.654C= (p.Asp218=)
n.2776C=
2g.27459444G>TCA346382279IFT172c.2721C>A (p.Asp907Glu)
c.*1894C>A (n.*1894C>A)
c.*736C>A (n.*736C>A)
c.*2318C>A (n.*2318C>A)
c.2040C>A (p.Asp680Glu)
c.2655C>A (p.Asp885Glu)
c.*2011C>A (n.*2011C>A)
n.2853C>A
c.2658C>A (p.Asp886Glu)
c.1161C>A (p.Asp387Glu)
c.786C>A (p.Asp262Glu)
c.2592C>A (p.Asp864Glu)
c.858C>A (p.Asp286Glu)
c.654C>A (p.Asp218Glu)
n.2776C>A
 dbSNP
2g.27459445T>ACA346382280IFT172c.2720A>T (p.Asp907Val)
c.*1893A>T (n.*1893A>T)
c.*735A>T (n.*735A>T)
c.*2317A>T (n.*2317A>T)
c.2039A>T (p.Asp680Val)
c.2654A>T (p.Asp885Val)
c.*2010A>T (n.*2010A>T)
n.2852A>T
c.2657A>T (p.Asp886Val)
c.1160A>T (p.Asp387Val)
c.785A>T (p.Asp262Val)
c.2591A>T (p.Asp864Val)
c.857A>T (p.Asp286Val)
c.653A>T (p.Asp218Val)
n.2775A>T
2g.27459445T>CCA346382281IFT172c.2720A>G (p.Asp907Gly)
c.*1893A>G (n.*1893A>G)
c.*735A>G (n.*735A>G)
c.*2317A>G (n.*2317A>G)
c.2039A>G (p.Asp680Gly)
c.2654A>G (p.Asp885Gly)
c.*2010A>G (n.*2010A>G)
n.2852A>G
c.2657A>G (p.Asp886Gly)
c.1160A>G (p.Asp387Gly)
c.785A>G (p.Asp262Gly)
c.2591A>G (p.Asp864Gly)
c.857A>G (p.Asp286Gly)
c.653A>G (p.Asp218Gly)
n.2775A>G
2g.27459445T>GCA346382282IFT172c.2720A>C (p.Asp907Ala)
c.*1893A>C (n.*1893A>C)
c.*735A>C (n.*735A>C)
c.*2317A>C (n.*2317A>C)
c.2039A>C (p.Asp680Ala)
c.2654A>C (p.Asp885Ala)
c.*2010A>C (n.*2010A>C)
n.2852A>C
c.2657A>C (p.Asp886Ala)
c.1160A>C (p.Asp387Ala)
c.785A>C (p.Asp262Ala)
c.2591A>C (p.Asp864Ala)
c.857A>C (p.Asp286Ala)
c.653A>C (p.Asp218Ala)
n.2775A>C
2g.27459446C>ACA346382283IFT172c.2719G>T (p.Asp907Tyr)
c.*1892G>T (n.*1892G>T)
c.*734G>T (n.*734G>T)
c.*2316G>T (n.*2316G>T)
c.2038G>T (p.Asp680Tyr)
c.2653G>T (p.Asp885Tyr)
c.*2009G>T (n.*2009G>T)
n.2851G>T
c.2656G>T (p.Asp886Tyr)
c.1159G>T (p.Asp387Tyr)
c.784G>T (p.Asp262Tyr)
c.2590G>T (p.Asp864Tyr)
c.856G>T (p.Asp286Tyr)
c.652G>T (p.Asp218Tyr)
n.2774G>T
2g.27459446C>GCA346382284IFT172c.2719G>C (p.Asp907His)
c.*1892G>C (n.*1892G>C)
c.*734G>C (n.*734G>C)
c.*2316G>C (n.*2316G>C)
c.2038G>C (p.Asp680His)
c.2653G>C (p.Asp885His)
c.*2009G>C (n.*2009G>C)
n.2851G>C
c.2656G>C (p.Asp886His)
c.1159G>C (p.Asp387His)
c.784G>C (p.Asp262His)
c.2590G>C (p.Asp864His)
c.856G>C (p.Asp286His)
c.652G>C (p.Asp218His)
n.2774G>C
 ClinVar
2g.27459446C>TCA346382285IFT172c.2719G>A (p.Asp907Asn)
c.*1892G>A (n.*1892G>A)
c.*734G>A (n.*734G>A)
c.*2316G>A (n.*2316G>A)
c.2038G>A (p.Asp680Asn)
c.2653G>A (p.Asp885Asn)
c.*2009G>A (n.*2009G>A)
n.2851G>A
c.2656G>A (p.Asp886Asn)
c.1159G>A (p.Asp387Asn)
c.784G>A (p.Asp262Asn)
c.2590G>A (p.Asp864Asn)
c.856G>A (p.Asp286Asn)
c.652G>A (p.Asp218Asn)
n.2774G>A
 gnomAD v4
2g.27459447C>ACA346382287IFT172c.2718G>T (p.Gln906His)
c.*1891G>T (n.*1891G>T)
c.*733G>T (n.*733G>T)
c.*2315G>T (n.*2315G>T)
c.2037G>T (p.Gln679His)
c.2652G>T (p.Gln884His)
c.*2008G>T (n.*2008G>T)
n.2850G>T
c.2655G>T (p.Gln885His)
c.1158G>T (p.Gln386His)
c.783G>T (p.Gln261His)
c.2589G>T (p.Gln863His)
c.855G>T (p.Gln285His)
c.651G>T (p.Gln217His)
n.2773G>T
2g.27459447C>GCA346382286IFT172c.2718G>C (p.Gln906His)
c.*1891G>C (n.*1891G>C)
c.*733G>C (n.*733G>C)
c.*2315G>C (n.*2315G>C)
c.2037G>C (p.Gln679His)
c.2652G>C (p.Gln884His)
c.*2008G>C (n.*2008G>C)
n.2850G>C
c.2655G>C (p.Gln885His)
c.1158G>C (p.Gln386His)
c.783G>C (p.Gln261His)
c.2589G>C (p.Gln863His)
c.855G>C (p.Gln285His)
c.651G>C (p.Gln217His)
n.2773G>C
2g.27459447C>TCA425404561IFT172c.2718G>A (p.Gln906=)
c.*1891G>A (n.*1891G>A)
c.*733G>A (n.*733G>A)
c.*2315G>A (n.*2315G>A)
c.2037G>A (p.Gln679=)
c.2652G>A (p.Gln884=)
c.*2008G>A (n.*2008G>A)
n.2850G>A
c.2655G>A (p.Gln885=)
c.1158G>A (p.Gln386=)
c.783G>A (p.Gln261=)
c.2589G>A (p.Gln863=)
c.855G>A (p.Gln285=)
c.651G>A (p.Gln217=)
n.2773G>A
2g.27459448T>ACA346382288IFT172c.2717A>T (p.Gln906Leu)
c.*1890A>T (n.*1890A>T)
c.*732A>T (n.*732A>T)
c.*2314A>T (n.*2314A>T)
c.2036A>T (p.Gln679Leu)
c.2651A>T (p.Gln884Leu)
c.*2007A>T (n.*2007A>T)
n.2849A>T
c.2654A>T (p.Gln885Leu)
c.1157A>T (p.Gln386Leu)
c.782A>T (p.Gln261Leu)
c.2588A>T (p.Gln863Leu)
c.854A>T (p.Gln285Leu)
c.650A>T (p.Gln217Leu)
n.2772A>T
2g.27459448T>CCA346382289IFT172c.2717A>G (p.Gln906Arg)
c.*1890A>G (n.*1890A>G)
c.*732A>G (n.*732A>G)
c.*2314A>G (n.*2314A>G)
c.2036A>G (p.Gln679Arg)
c.2651A>G (p.Gln884Arg)
c.*2007A>G (n.*2007A>G)
n.2849A>G
c.2654A>G (p.Gln885Arg)
c.1157A>G (p.Gln386Arg)
c.782A>G (p.Gln261Arg)
c.2588A>G (p.Gln863Arg)
c.854A>G (p.Gln285Arg)
c.650A>G (p.Gln217Arg)
n.2772A>G
2g.27459448T>GCA346382290IFT172c.2717A>C (p.Gln906Pro)
c.*1890A>C (n.*1890A>C)
c.*732A>C (n.*732A>C)
c.*2314A>C (n.*2314A>C)
c.2036A>C (p.Gln679Pro)
c.2651A>C (p.Gln884Pro)
c.*2007A>C (n.*2007A>C)
n.2849A>C
c.2654A>C (p.Gln885Pro)
c.1157A>C (p.Gln386Pro)
c.782A>C (p.Gln261Pro)
c.2588A>C (p.Gln863Pro)
c.854A>C (p.Gln285Pro)
c.650A>C (p.Gln217Pro)
n.2772A>C
2g.27459449G>ACA149726IFT172c.2716C>T (p.Gln906Ter)
c.*1889C>T (n.*1889C>T)
c.*731C>T (n.*731C>T)
c.*2313C>T (n.*2313C>T)
c.2035C>T (p.Gln679Ter)
c.2650C>T (p.Gln884Ter)
c.*2006C>T (n.*2006C>T)
n.2848C>T
c.2653C>T (p.Gln885Ter)
c.1156C>T (p.Gln386Ter)
c.781C>T (p.Gln261Ter)
c.2587C>T (p.Gln863Ter)
c.853C>T (p.Gln285Ter)
c.649C>T (p.Gln217Ter)
n.2771C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27459449G>CCA346382291IFT172c.2716C>G (p.Gln906Glu)
c.*1889C>G (n.*1889C>G)
c.*731C>G (n.*731C>G)
c.*2313C>G (n.*2313C>G)
c.2035C>G (p.Gln679Glu)
c.2650C>G (p.Gln884Glu)
c.*2006C>G (n.*2006C>G)
n.2848C>G
c.2653C>G (p.Gln885Glu)
c.1156C>G (p.Gln386Glu)
c.781C>G (p.Gln261Glu)
c.2587C>G (p.Gln863Glu)
c.853C>G (p.Gln285Glu)
c.649C>G (p.Gln217Glu)
n.2771C>G
2g.27459449G=CA1240289082IFT172c.2716C= (p.Gln906=)
c.*1889C= (n.*1889C=)
c.*731C= (n.*731C=)
c.*2313C= (n.*2313C=)
c.2035C= (p.Gln679=)
c.2650C= (p.Gln884=)
c.*2006C= (n.*2006C=)
n.2848C=
c.2653C= (p.Gln885=)
c.1156C= (p.Gln386=)
c.781C= (p.Gln261=)
c.2587C= (p.Gln863=)
c.853C= (p.Gln285=)
c.649C= (p.Gln217=)
n.2771C=
2g.27459449G>TCA346382292IFT172c.2716C>A (p.Gln906Lys)
c.*1889C>A (n.*1889C>A)
c.*731C>A (n.*731C>A)
c.*2313C>A (n.*2313C>A)
c.2035C>A (p.Gln679Lys)
c.2650C>A (p.Gln884Lys)
c.*2006C>A (n.*2006C>A)
n.2848C>A
c.2653C>A (p.Gln885Lys)
c.1156C>A (p.Gln386Lys)
c.781C>A (p.Gln261Lys)
c.2587C>A (p.Gln863Lys)
c.853C>A (p.Gln285Lys)
c.649C>A (p.Gln217Lys)
n.2771C>A
2g.27459450T>ACA425404568IFT172c.2715A>T (p.Leu905=)
c.*1888A>T (n.*1888A>T)
c.*730A>T (n.*730A>T)
c.*2312A>T (n.*2312A>T)
c.2034A>T (p.Leu678=)
c.2649A>T (p.Leu883=)
c.*2005A>T (n.*2005A>T)
n.2847A>T
c.2652A>T (p.Leu884=)
c.1155A>T (p.Leu385=)
c.780A>T (p.Leu260=)
c.2586A>T (p.Leu862=)
c.852A>T (p.Leu284=)
c.648A>T (p.Leu216=)
n.2770A>T
2g.27459450T>CCA44494766IFT172c.2715A>G (p.Leu905=)
c.*1888A>G (n.*1888A>G)
c.*730A>G (n.*730A>G)
c.*2312A>G (n.*2312A>G)
c.2034A>G (p.Leu678=)
c.2649A>G (p.Leu883=)
c.*2005A>G (n.*2005A>G)
n.2847A>G
c.2652A>G (p.Leu884=)
c.1155A>G (p.Leu385=)
c.780A>G (p.Leu260=)
c.2586A>G (p.Leu862=)
c.852A>G (p.Leu284=)
c.648A>G (p.Leu216=)
n.2770A>G
 ClinVar dbSNP
2g.27459450T>GCA425404569IFT172c.2715A>C (p.Leu905=)
c.*1888A>C (n.*1888A>C)
c.*730A>C (n.*730A>C)
c.*2312A>C (n.*2312A>C)
c.2034A>C (p.Leu678=)
c.2649A>C (p.Leu883=)
c.*2005A>C (n.*2005A>C)
n.2847A>C
c.2652A>C (p.Leu884=)
c.1155A>C (p.Leu385=)
c.780A>C (p.Leu260=)
c.2586A>C (p.Leu862=)
c.852A>C (p.Leu284=)
c.648A>C (p.Leu216=)
n.2770A>C
2g.27459450T=CA1240289084IFT172c.2715A= (p.Leu905=)
c.*1888A= (n.*1888A=)
c.*730A= (n.*730A=)
c.*2312A= (n.*2312A=)
c.2034A= (p.Leu678=)
c.2649A= (p.Leu883=)
c.*2005A= (n.*2005A=)
n.2847A=
c.2652A= (p.Leu884=)
c.1155A= (p.Leu385=)
c.780A= (p.Leu260=)
c.2586A= (p.Leu862=)
c.852A= (p.Leu284=)
c.648A= (p.Leu216=)
n.2770A=
2g.27459450dupCA1240289083IFT172c.2715dup (p.Gln906ThrfsTer24)
c.*1888dup (n.*1888dup)
c.*730dup (n.*730dup)
c.*2312dup (n.*2312dup)
c.2034dup (p.Gln679ThrfsTer24)
c.2649dup (p.Gln884ThrfsTer24)
c.*2005dup (n.*2005dup)
n.2847dup
c.2652dup (p.Gln885ThrfsTer24)
c.1155dup (p.Gln386ThrfsTer24)
c.780dup (p.Gln261ThrfsTer24)
c.2586dup (p.Gln863ThrfsTer24)
c.852dup (p.Gln285ThrfsTer24)
c.648dup (p.Gln217ThrfsTer24)
n.2770dup
 dbSNP
2g.27459451A>CCA346382293IFT172c.2714T>G (p.Leu905Arg)
c.*1887T>G (n.*1887T>G)
c.*729T>G (n.*729T>G)
c.*2311T>G (n.*2311T>G)
c.2033T>G (p.Leu678Arg)
c.2648T>G (p.Leu883Arg)
c.*2004T>G (n.*2004T>G)
n.2846T>G
c.2651T>G (p.Leu884Arg)
c.1154T>G (p.Leu385Arg)
c.779T>G (p.Leu260Arg)
c.2585T>G (p.Leu862Arg)
c.851T>G (p.Leu284Arg)
c.647T>G (p.Leu216Arg)
n.2769T>G
2g.27459451A>GCA346382294IFT172c.2714T>C (p.Leu905Pro)
c.*1887T>C (n.*1887T>C)
c.*729T>C (n.*729T>C)
c.*2311T>C (n.*2311T>C)
c.2033T>C (p.Leu678Pro)
c.2648T>C (p.Leu883Pro)
c.*2004T>C (n.*2004T>C)
n.2846T>C
c.2651T>C (p.Leu884Pro)
c.1154T>C (p.Leu385Pro)
c.779T>C (p.Leu260Pro)
c.2585T>C (p.Leu862Pro)
c.851T>C (p.Leu284Pro)
c.647T>C (p.Leu216Pro)
n.2769T>C
 gnomAD v4
2g.27459451A>TCA346382295IFT172c.2714T>A (p.Leu905Gln)
c.*1887T>A (n.*1887T>A)
c.*729T>A (n.*729T>A)
c.*2311T>A (n.*2311T>A)
c.2033T>A (p.Leu678Gln)
c.2648T>A (p.Leu883Gln)
c.*2004T>A (n.*2004T>A)
n.2846T>A
c.2651T>A (p.Leu884Gln)
c.1154T>A (p.Leu385Gln)
c.779T>A (p.Leu260Gln)
c.2585T>A (p.Leu862Gln)
c.851T>A (p.Leu284Gln)
c.647T>A (p.Leu216Gln)
n.2769T>A
2g.27459452G>ACA425404580IFT172c.2713C>T (p.Leu905=)
c.*1886C>T (n.*1886C>T)
c.*728C>T (n.*728C>T)
c.*2310C>T (n.*2310C>T)
c.2032C>T (p.Leu678=)
c.2647C>T (p.Leu883=)
c.*2003C>T (n.*2003C>T)
n.2845C>T
c.2650C>T (p.Leu884=)
c.1153C>T (p.Leu385=)
c.778C>T (p.Leu260=)
c.2584C>T (p.Leu862=)
c.850C>T (p.Leu284=)
c.646C>T (p.Leu216=)
n.2768C>T
2g.27459452G>CCA346382296IFT172c.2713C>G (p.Leu905Val)
c.*1886C>G (n.*1886C>G)
c.*728C>G (n.*728C>G)
c.*2310C>G (n.*2310C>G)
c.2032C>G (p.Leu678Val)
c.2647C>G (p.Leu883Val)
c.*2003C>G (n.*2003C>G)
n.2845C>G
c.2650C>G (p.Leu884Val)
c.1153C>G (p.Leu385Val)
c.778C>G (p.Leu260Val)
c.2584C>G (p.Leu862Val)
c.850C>G (p.Leu284Val)
c.646C>G (p.Leu216Val)
n.2768C>G
 dbSNP
2g.27459452G=CA1240289085IFT172c.2713C= (p.Leu905=)
c.*1886C= (n.*1886C=)
c.*728C= (n.*728C=)
c.*2310C= (n.*2310C=)
c.2032C= (p.Leu678=)
c.2647C= (p.Leu883=)
c.*2003C= (n.*2003C=)
n.2845C=
c.2650C= (p.Leu884=)
c.1153C= (p.Leu385=)
c.778C= (p.Leu260=)
c.2584C= (p.Leu862=)
c.850C= (p.Leu284=)
c.646C= (p.Leu216=)
n.2768C=
2g.27459452G>TCA346382297IFT172c.2713C>A (p.Leu905Ile)
c.*1886C>A (n.*1886C>A)
c.*728C>A (n.*728C>A)
c.*2310C>A (n.*2310C>A)
c.2032C>A (p.Leu678Ile)
c.2647C>A (p.Leu883Ile)
c.*2003C>A (n.*2003C>A)
n.2845C>A
c.2650C>A (p.Leu884Ile)
c.1153C>A (p.Leu385Ile)
c.778C>A (p.Leu260Ile)
c.2584C>A (p.Leu862Ile)
c.850C>A (p.Leu284Ile)
c.646C>A (p.Leu216Ile)
n.2768C>A
2g.27459453A=CA1240289086IFT172c.2712T= (p.Asp904=)
c.*1885T= (n.*1885T=)
c.*727T= (n.*727T=)
c.*2309T= (n.*2309T=)
c.2031T= (p.Asp677=)
c.2646T= (p.Asp882=)
c.*2002T= (n.*2002T=)
n.2844T=
c.2649T= (p.Asp883=)
c.1152T= (p.Asp384=)
c.777T= (p.Asp259=)
c.2583T= (p.Asp861=)
c.849T= (p.Asp283=)
c.645T= (p.Asp215=)
n.2767T=
2g.27459453A>CCA346382298IFT172c.2712T>G (p.Asp904Glu)
c.*1885T>G (n.*1885T>G)
c.*727T>G (n.*727T>G)
c.*2309T>G (n.*2309T>G)
c.2031T>G (p.Asp677Glu)
c.2646T>G (p.Asp882Glu)
c.*2002T>G (n.*2002T>G)
n.2844T>G
c.2649T>G (p.Asp883Glu)
c.1152T>G (p.Asp384Glu)
c.777T>G (p.Asp259Glu)
c.2583T>G (p.Asp861Glu)
c.849T>G (p.Asp283Glu)
c.645T>G (p.Asp215Glu)
n.2767T>G
2g.27459453A>GCA425404582IFT172c.2712T>C (p.Asp904=)
c.*1885T>C (n.*1885T>C)
c.*727T>C (n.*727T>C)
c.*2309T>C (n.*2309T>C)
c.2031T>C (p.Asp677=)
c.2646T>C (p.Asp882=)
c.*2002T>C (n.*2002T>C)
n.2844T>C
c.2649T>C (p.Asp883=)
c.1152T>C (p.Asp384=)
c.777T>C (p.Asp259=)
c.2583T>C (p.Asp861=)
c.849T>C (p.Asp283=)
c.645T>C (p.Asp215=)
n.2767T>C
 dbSNP gnomAD v4
2g.27459453A>TCA346382299IFT172c.2712T>A (p.Asp904Glu)
c.*1885T>A (n.*1885T>A)
c.*727T>A (n.*727T>A)
c.*2309T>A (n.*2309T>A)
c.2031T>A (p.Asp677Glu)
c.2646T>A (p.Asp882Glu)
c.*2002T>A (n.*2002T>A)
n.2844T>A
c.2649T>A (p.Asp883Glu)
c.1152T>A (p.Asp384Glu)
c.777T>A (p.Asp259Glu)
c.2583T>A (p.Asp861Glu)
c.849T>A (p.Asp283Glu)
c.645T>A (p.Asp215Glu)
n.2767T>A
 gnomAD v4
2g.27459454T>ACA346382300IFT172c.2711A>T (p.Asp904Val)
c.*1884A>T (n.*1884A>T)
c.*726A>T (n.*726A>T)
c.*2308A>T (n.*2308A>T)
c.2030A>T (p.Asp677Val)
c.2645A>T (p.Asp882Val)
c.*2001A>T (n.*2001A>T)
n.2843A>T
c.2648A>T (p.Asp883Val)
c.1151A>T (p.Asp384Val)
c.776A>T (p.Asp259Val)
c.2582A>T (p.Asp861Val)
c.848A>T (p.Asp283Val)
c.644A>T (p.Asp215Val)
n.2766A>T
2g.27459454T>CCA346382302IFT172c.2711A>G (p.Asp904Gly)
c.*1884A>G (n.*1884A>G)
c.*726A>G (n.*726A>G)
c.*2308A>G (n.*2308A>G)
c.2030A>G (p.Asp677Gly)
c.2645A>G (p.Asp882Gly)
c.*2001A>G (n.*2001A>G)
n.2843A>G
c.2648A>G (p.Asp883Gly)
c.1151A>G (p.Asp384Gly)
c.776A>G (p.Asp259Gly)
c.2582A>G (p.Asp861Gly)
c.848A>G (p.Asp283Gly)
c.644A>G (p.Asp215Gly)
n.2766A>G
 dbSNP gnomAD v2 gnomAD v4
2g.27459454T>GCA346382301IFT172c.2711A>C (p.Asp904Ala)
c.*1884A>C (n.*1884A>C)
c.*726A>C (n.*726A>C)
c.*2308A>C (n.*2308A>C)
c.2030A>C (p.Asp677Ala)
c.2645A>C (p.Asp882Ala)
c.*2001A>C (n.*2001A>C)
n.2843A>C
c.2648A>C (p.Asp883Ala)
c.1151A>C (p.Asp384Ala)
c.776A>C (p.Asp259Ala)
c.2582A>C (p.Asp861Ala)
c.848A>C (p.Asp283Ala)
c.644A>C (p.Asp215Ala)
n.2766A>C
2g.27459454T=CA1240289087IFT172c.2711A= (p.Asp904=)
c.*1884A= (n.*1884A=)
c.*726A= (n.*726A=)
c.*2308A= (n.*2308A=)
c.2030A= (p.Asp677=)
c.2645A= (p.Asp882=)
c.*2001A= (n.*2001A=)
n.2843A=
c.2648A= (p.Asp883=)
c.1151A= (p.Asp384=)
c.776A= (p.Asp259=)
c.2582A= (p.Asp861=)
c.848A= (p.Asp283=)
c.644A= (p.Asp215=)
n.2766A=
2g.27459455C>ACA346382303IFT172c.2710G>T (p.Asp904Tyr)
c.*1883G>T (n.*1883G>T)
c.*725G>T (n.*725G>T)
c.*2307G>T (n.*2307G>T)
c.2029G>T (p.Asp677Tyr)
c.2644G>T (p.Asp882Tyr)
c.*2000G>T (n.*2000G>T)
n.2842G>T
c.2647G>T (p.Asp883Tyr)
c.1150G>T (p.Asp384Tyr)
c.775G>T (p.Asp259Tyr)
c.2581G>T (p.Asp861Tyr)
c.847G>T (p.Asp283Tyr)
c.643G>T (p.Asp215Tyr)
n.2765G>T
 gnomAD v4
2g.27459455C=CA1240289088IFT172c.2710G= (p.Asp904=)
c.*1883G= (n.*1883G=)
c.*725G= (n.*725G=)
c.*2307G= (n.*2307G=)
c.2029G= (p.Asp677=)
c.2644G= (p.Asp882=)
c.*2000G= (n.*2000G=)
n.2842G=
c.2647G= (p.Asp883=)
c.1150G= (p.Asp384=)
c.775G= (p.Asp259=)
c.2581G= (p.Asp861=)
c.847G= (p.Asp283=)
c.643G= (p.Asp215=)
n.2765G=
2g.27459455C>GCA346382304IFT172c.2710G>C (p.Asp904His)
c.*1883G>C (n.*1883G>C)
c.*725G>C (n.*725G>C)
c.*2307G>C (n.*2307G>C)
c.2029G>C (p.Asp677His)
c.2644G>C (p.Asp882His)
c.*2000G>C (n.*2000G>C)
n.2842G>C
c.2647G>C (p.Asp883His)
c.1150G>C (p.Asp384His)
c.775G>C (p.Asp259His)
c.2581G>C (p.Asp861His)
c.847G>C (p.Asp283His)
c.643G>C (p.Asp215His)
n.2765G>C
2g.27459455C>TCA346382305IFT172c.2710G>A (p.Asp904Asn)
c.*1883G>A (n.*1883G>A)
c.*725G>A (n.*725G>A)
c.*2307G>A (n.*2307G>A)
c.2029G>A (p.Asp677Asn)
c.2644G>A (p.Asp882Asn)
c.*2000G>A (n.*2000G>A)
n.2842G>A
c.2647G>A (p.Asp883Asn)
c.1150G>A (p.Asp384Asn)
c.775G>A (p.Asp259Asn)
c.2581G>A (p.Asp861Asn)
c.847G>A (p.Asp283Asn)
c.643G>A (p.Asp215Asn)
n.2765G>A
 ClinVar dbSNP gnomAD v4
2g.27459456T>ACA346382306IFT172c.2709A>T (p.Leu903Phe)
c.*1882A>T (n.*1882A>T)
c.*724A>T (n.*724A>T)
c.*2306A>T (n.*2306A>T)
c.2028A>T (p.Leu676Phe)
c.2643A>T (p.Leu881Phe)
c.*1999A>T (n.*1999A>T)
n.2841A>T
c.2646A>T (p.Leu882Phe)
c.1149A>T (p.Leu383Phe)
c.774A>T (p.Leu258Phe)
c.2580A>T (p.Leu860Phe)
c.846A>T (p.Leu282Phe)
c.642A>T (p.Leu214Phe)
n.2764A>T
2g.27459456T>CCA425404603IFT172c.2709A>G (p.Leu903=)
c.*1882A>G (n.*1882A>G)
c.*724A>G (n.*724A>G)
c.*2306A>G (n.*2306A>G)
c.2028A>G (p.Leu676=)
c.2643A>G (p.Leu881=)
c.*1999A>G (n.*1999A>G)
n.2841A>G
c.2646A>G (p.Leu882=)
c.1149A>G (p.Leu383=)
c.774A>G (p.Leu258=)
c.2580A>G (p.Leu860=)
c.846A>G (p.Leu282=)
c.642A>G (p.Leu214=)
n.2764A>G
2g.27459456T>GCA346382307IFT172c.2709A>C (p.Leu903Phe)
c.*1882A>C (n.*1882A>C)
c.*724A>C (n.*724A>C)
c.*2306A>C (n.*2306A>C)
c.2028A>C (p.Leu676Phe)
c.2643A>C (p.Leu881Phe)
c.*1999A>C (n.*1999A>C)
n.2841A>C
c.2646A>C (p.Leu882Phe)
c.1149A>C (p.Leu383Phe)
c.774A>C (p.Leu258Phe)
c.2580A>C (p.Leu860Phe)
c.846A>C (p.Leu282Phe)
c.642A>C (p.Leu214Phe)
n.2764A>C
2g.27459457A>CCA346382308IFT172c.2708T>G (p.Leu903Ter)
c.*1881T>G (n.*1881T>G)
c.*723T>G (n.*723T>G)
c.*2305T>G (n.*2305T>G)
c.2027T>G (p.Leu676Ter)
c.2642T>G (p.Leu881Ter)
c.*1998T>G (n.*1998T>G)
n.2840T>G
c.2645T>G (p.Leu882Ter)
c.1148T>G (p.Leu383Ter)
c.773T>G (p.Leu258Ter)
c.2579T>G (p.Leu860Ter)
c.845T>G (p.Leu282Ter)
c.641T>G (p.Leu214Ter)
n.2763T>G
2g.27459457A>GCA346382309IFT172c.2708T>C (p.Leu903Ser)
c.*1881T>C (n.*1881T>C)
c.*723T>C (n.*723T>C)
c.*2305T>C (n.*2305T>C)
c.2027T>C (p.Leu676Ser)
c.2642T>C (p.Leu881Ser)
c.*1998T>C (n.*1998T>C)
n.2840T>C
c.2645T>C (p.Leu882Ser)
c.1148T>C (p.Leu383Ser)
c.773T>C (p.Leu258Ser)
c.2579T>C (p.Leu860Ser)
c.845T>C (p.Leu282Ser)
c.641T>C (p.Leu214Ser)
n.2763T>C
2g.27459457A>TCA346382310IFT172c.2708T>A (p.Leu903Ter)
c.*1881T>A (n.*1881T>A)
c.*723T>A (n.*723T>A)
c.*2305T>A (n.*2305T>A)
c.2027T>A (p.Leu676Ter)
c.2642T>A (p.Leu881Ter)
c.*1998T>A (n.*1998T>A)
n.2840T>A
c.2645T>A (p.Leu882Ter)
c.1148T>A (p.Leu383Ter)
c.773T>A (p.Leu258Ter)
c.2579T>A (p.Leu860Ter)
c.845T>A (p.Leu282Ter)
c.641T>A (p.Leu214Ter)
n.2763T>A
2g.27459458A>CCA346382311IFT172c.2707T>G (p.Leu903Val)
c.*1880T>G (n.*1880T>G)
c.*722T>G (n.*722T>G)
c.*2304T>G (n.*2304T>G)
c.2026T>G (p.Leu676Val)
c.2641T>G (p.Leu881Val)
c.*1997T>G (n.*1997T>G)
n.2839T>G
c.2644T>G (p.Leu882Val)
c.1147T>G (p.Leu383Val)
c.772T>G (p.Leu258Val)
c.2578T>G (p.Leu860Val)
c.844T>G (p.Leu282Val)
c.640T>G (p.Leu214Val)
n.2762T>G
2g.27459458A>GCA425404619IFT172c.2707T>C (p.Leu903=)
c.*1880T>C (n.*1880T>C)
c.*722T>C (n.*722T>C)
c.*2304T>C (n.*2304T>C)
c.2026T>C (p.Leu676=)
c.2641T>C (p.Leu881=)
c.*1997T>C (n.*1997T>C)
n.2839T>C
c.2644T>C (p.Leu882=)
c.1147T>C (p.Leu383=)
c.772T>C (p.Leu258=)
c.2578T>C (p.Leu860=)
c.844T>C (p.Leu282=)
c.640T>C (p.Leu214=)
n.2762T>C
2g.27459458A>TCA346382312IFT172c.2707T>A (p.Leu903Ile)
c.*1880T>A (n.*1880T>A)
c.*722T>A (n.*722T>A)
c.*2304T>A (n.*2304T>A)
c.2026T>A (p.Leu676Ile)
c.2641T>A (p.Leu881Ile)
c.*1997T>A (n.*1997T>A)
n.2839T>A
c.2644T>A (p.Leu882Ile)
c.1147T>A (p.Leu383Ile)
c.772T>A (p.Leu258Ile)
c.2578T>A (p.Leu860Ile)
c.844T>A (p.Leu282Ile)
c.640T>A (p.Leu214Ile)
n.2762T>A
2g.27459459T>ACA425405210IFT172c.2706A>T (p.Ile902=)
c.*1879A>T (n.*1879A>T)
c.*721A>T (n.*721A>T)
c.*2303A>T (n.*2303A>T)
c.2025A>T (p.Ile675=)
c.2640A>T (p.Ile880=)
c.*1996A>T (n.*1996A>T)
n.2838A>T
c.2643A>T (p.Ile881=)
c.1146A>T (p.Ile382=)
c.771A>T (p.Ile257=)
c.2577A>T (p.Ile859=)
c.843A>T (p.Ile281=)
c.639A>T (p.Ile213=)
n.2761A>T
2g.27459459T>CCA1580208IFT172c.2706A>G (p.Ile902Met)
c.*1879A>G (n.*1879A>G)
c.*721A>G (n.*721A>G)
c.*2303A>G (n.*2303A>G)
c.2025A>G (p.Ile675Met)
c.2640A>G (p.Ile880Met)
c.*1996A>G (n.*1996A>G)
n.2838A>G
c.2643A>G (p.Ile881Met)
c.1146A>G (p.Ile382Met)
c.771A>G (p.Ile257Met)
c.2577A>G (p.Ile859Met)
c.843A>G (p.Ile281Met)
c.639A>G (p.Ile213Met)
n.2761A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27459459T>GCA425405214IFT172c.2706A>C (p.Ile902=)
c.*1879A>C (n.*1879A>C)
c.*721A>C (n.*721A>C)
c.*2303A>C (n.*2303A>C)
c.2025A>C (p.Ile675=)
c.2640A>C (p.Ile880=)
c.*1996A>C (n.*1996A>C)
n.2838A>C
c.2643A>C (p.Ile881=)
c.1146A>C (p.Ile382=)
c.771A>C (p.Ile257=)
c.2577A>C (p.Ile859=)
c.843A>C (p.Ile281=)
c.639A>C (p.Ile213=)
n.2761A>C
2g.27459459T=CA1240289089IFT172c.2706A= (p.Ile902=)
c.*1879A= (n.*1879A=)
c.*721A= (n.*721A=)
c.*2303A= (n.*2303A=)
c.2025A= (p.Ile675=)
c.2640A= (p.Ile880=)
c.*1996A= (n.*1996A=)
n.2838A=
c.2643A= (p.Ile881=)
c.1146A= (p.Ile382=)
c.771A= (p.Ile257=)
c.2577A= (p.Ile859=)
c.843A= (p.Ile281=)
c.639A= (p.Ile213=)
n.2761A=
2g.27459460A>CCA346382315IFT172c.2705T>G (p.Ile902Arg)
c.*1878T>G (n.*1878T>G)
c.*720T>G (n.*720T>G)
c.*2302T>G (n.*2302T>G)
c.2024T>G (p.Ile675Arg)
c.2639T>G (p.Ile880Arg)
c.*1995T>G (n.*1995T>G)
n.2837T>G
c.2642T>G (p.Ile881Arg)
c.1145T>G (p.Ile382Arg)
c.770T>G (p.Ile257Arg)
c.2576T>G (p.Ile859Arg)
c.842T>G (p.Ile281Arg)
c.638T>G (p.Ile213Arg)
n.2760T>G
2g.27459460A>GCA346382314IFT172c.2705T>C (p.Ile902Thr)
c.*1878T>C (n.*1878T>C)
c.*720T>C (n.*720T>C)
c.*2302T>C (n.*2302T>C)
c.2024T>C (p.Ile675Thr)
c.2639T>C (p.Ile880Thr)
c.*1995T>C (n.*1995T>C)
n.2837T>C
c.2642T>C (p.Ile881Thr)
c.1145T>C (p.Ile382Thr)
c.770T>C (p.Ile257Thr)
c.2576T>C (p.Ile859Thr)
c.842T>C (p.Ile281Thr)
c.638T>C (p.Ile213Thr)
n.2760T>C
2g.27459460A>TCA346382313IFT172c.2705T>A (p.Ile902Lys)
c.*1878T>A (n.*1878T>A)
c.*720T>A (n.*720T>A)
c.*2302T>A (n.*2302T>A)
c.2024T>A (p.Ile675Lys)
c.2639T>A (p.Ile880Lys)
c.*1995T>A (n.*1995T>A)
n.2837T>A
c.2642T>A (p.Ile881Lys)
c.1145T>A (p.Ile382Lys)
c.770T>A (p.Ile257Lys)
c.2576T>A (p.Ile859Lys)
c.842T>A (p.Ile281Lys)
c.638T>A (p.Ile213Lys)
n.2760T>A
2g.27459461T>ACA346382316IFT172c.2704A>T (p.Ile902Leu)
c.*1877A>T (n.*1877A>T)
c.*719A>T (n.*719A>T)
c.*2301A>T (n.*2301A>T)
c.2023A>T (p.Ile675Leu)
c.2638A>T (p.Ile880Leu)
c.*1994A>T (n.*1994A>T)
n.2836A>T
c.2641A>T (p.Ile881Leu)
c.1144A>T (p.Ile382Leu)
c.769A>T (p.Ile257Leu)
c.2575A>T (p.Ile859Leu)
c.841A>T (p.Ile281Leu)
c.637A>T (p.Ile213Leu)
n.2759A>T
2g.27459461T>CCA1580209IFT172c.2704A>G (p.Ile902Val)
c.*1877A>G (n.*1877A>G)
c.*719A>G (n.*719A>G)
c.*2301A>G (n.*2301A>G)
c.2023A>G (p.Ile675Val)
c.2638A>G (p.Ile880Val)
c.*1994A>G (n.*1994A>G)
n.2836A>G
c.2641A>G (p.Ile881Val)
c.1144A>G (p.Ile382Val)
c.769A>G (p.Ile257Val)
c.2575A>G (p.Ile859Val)
c.841A>G (p.Ile281Val)
c.637A>G (p.Ile213Val)
n.2759A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27459461T>GCA346382317IFT172c.2704A>C (p.Ile902Leu)
c.*1877A>C (n.*1877A>C)
c.*719A>C (n.*719A>C)
c.*2301A>C (n.*2301A>C)
c.2023A>C (p.Ile675Leu)
c.2638A>C (p.Ile880Leu)
c.*1994A>C (n.*1994A>C)
n.2836A>C
c.2641A>C (p.Ile881Leu)
c.1144A>C (p.Ile382Leu)
c.769A>C (p.Ile257Leu)
c.2575A>C (p.Ile859Leu)
c.841A>C (p.Ile281Leu)
c.637A>C (p.Ile213Leu)
n.2759A>C
2g.27459461T=CA1240289090IFT172c.2704A= (p.Ile902=)
c.*1877A= (n.*1877A=)
c.*719A= (n.*719A=)
c.*2301A= (n.*2301A=)
c.2023A= (p.Ile675=)
c.2638A= (p.Ile880=)
c.*1994A= (n.*1994A=)
n.2836A=
c.2641A= (p.Ile881=)
c.1144A= (p.Ile382=)
c.769A= (p.Ile257=)
c.2575A= (p.Ile859=)
c.841A= (p.Ile281=)
c.637A= (p.Ile213=)
n.2759A=
2g.27459462A=CA1240289091IFT172c.2703T= (p.Tyr901=)
c.*1876T= (n.*1876T=)
c.*718T= (n.*718T=)
c.*2300T= (n.*2300T=)
c.2022T= (p.Tyr674=)
c.2637T= (p.Tyr879=)
c.*1993T= (n.*1993T=)
n.2835T=
c.2640T= (p.Tyr880=)
c.1143T= (p.Tyr381=)
c.768T= (p.Tyr256=)
c.2574T= (p.Tyr858=)
c.840T= (p.Tyr280=)
c.636T= (p.Tyr212=)
n.2758T=
2g.27459462A>CCA346382318IFT172c.2703T>G (p.Tyr901Ter)
c.*1876T>G (n.*1876T>G)
c.*718T>G (n.*718T>G)
c.*2300T>G (n.*2300T>G)
c.2022T>G (p.Tyr674Ter)
c.2637T>G (p.Tyr879Ter)
c.*1993T>G (n.*1993T>G)
n.2835T>G
c.2640T>G (p.Tyr880Ter)
c.1143T>G (p.Tyr381Ter)
c.768T>G (p.Tyr256Ter)
c.2574T>G (p.Tyr858Ter)
c.840T>G (p.Tyr280Ter)
c.636T>G (p.Tyr212Ter)
n.2758T>G
2g.27459462A>GCA1580210IFT172c.2703T>C (p.Tyr901=)
c.*1876T>C (n.*1876T>C)
c.*718T>C (n.*718T>C)
c.*2300T>C (n.*2300T>C)
c.2022T>C (p.Tyr674=)
c.2637T>C (p.Tyr879=)
c.*1993T>C (n.*1993T>C)
n.2835T>C
c.2640T>C (p.Tyr880=)
c.1143T>C (p.Tyr381=)
c.768T>C (p.Tyr256=)
c.2574T>C (p.Tyr858=)
c.840T>C (p.Tyr280=)
c.636T>C (p.Tyr212=)
n.2758T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27459462A>TCA346382319IFT172c.2703T>A (p.Tyr901Ter)
c.*1876T>A (n.*1876T>A)
c.*718T>A (n.*718T>A)
c.*2300T>A (n.*2300T>A)
c.2022T>A (p.Tyr674Ter)
c.2637T>A (p.Tyr879Ter)
c.*1993T>A (n.*1993T>A)
n.2835T>A
c.2640T>A (p.Tyr880Ter)
c.1143T>A (p.Tyr381Ter)
c.768T>A (p.Tyr256Ter)
c.2574T>A (p.Tyr858Ter)
c.840T>A (p.Tyr280Ter)
c.636T>A (p.Tyr212Ter)
n.2758T>A
2g.27459463T>ACA346382320IFT172c.2702A>T (p.Tyr901Phe)
c.*1875A>T (n.*1875A>T)
c.*717A>T (n.*717A>T)
c.*2299A>T (n.*2299A>T)
c.2021A>T (p.Tyr674Phe)
c.2636A>T (p.Tyr879Phe)
c.*1992A>T (n.*1992A>T)
n.2834A>T
c.2639A>T (p.Tyr880Phe)
c.1142A>T (p.Tyr381Phe)
c.767A>T (p.Tyr256Phe)
c.2573A>T (p.Tyr858Phe)
c.839A>T (p.Tyr280Phe)
c.635A>T (p.Tyr212Phe)
n.2757A>T
2g.27459463T>CCA346382321IFT172c.2702A>G (p.Tyr901Cys)
c.*1875A>G (n.*1875A>G)
c.*717A>G (n.*717A>G)
c.*2299A>G (n.*2299A>G)
c.2021A>G (p.Tyr674Cys)
c.2636A>G (p.Tyr879Cys)
c.*1992A>G (n.*1992A>G)
n.2834A>G
c.2639A>G (p.Tyr880Cys)
c.1142A>G (p.Tyr381Cys)
c.767A>G (p.Tyr256Cys)
c.2573A>G (p.Tyr858Cys)
c.839A>G (p.Tyr280Cys)
c.635A>G (p.Tyr212Cys)
n.2757A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27459463T>GCA346382322IFT172c.2702A>C (p.Tyr901Ser)
c.*1875A>C (n.*1875A>C)
c.*717A>C (n.*717A>C)
c.*2299A>C (n.*2299A>C)
c.2021A>C (p.Tyr674Ser)
c.2636A>C (p.Tyr879Ser)
c.*1992A>C (n.*1992A>C)
n.2834A>C
c.2639A>C (p.Tyr880Ser)
c.1142A>C (p.Tyr381Ser)
c.767A>C (p.Tyr256Ser)
c.2573A>C (p.Tyr858Ser)
c.839A>C (p.Tyr280Ser)
c.635A>C (p.Tyr212Ser)
n.2757A>C
2g.27459463T=CA1240289092IFT172c.2702A= (p.Tyr901=)
c.*1875A= (n.*1875A=)
c.*717A= (n.*717A=)
c.*2299A= (n.*2299A=)
c.2021A= (p.Tyr674=)
c.2636A= (p.Tyr879=)
c.*1992A= (n.*1992A=)
n.2834A=
c.2639A= (p.Tyr880=)
c.1142A= (p.Tyr381=)
c.767A= (p.Tyr256=)
c.2573A= (p.Tyr858=)
c.839A= (p.Tyr280=)
c.635A= (p.Tyr212=)
n.2757A=
2g.27459464A>CCA346382323IFT172c.2701T>G (p.Tyr901Asp)
c.*1874T>G (n.*1874T>G)
c.*716T>G (n.*716T>G)
c.*2298T>G (n.*2298T>G)
c.2020T>G (p.Tyr674Asp)
c.2635T>G (p.Tyr879Asp)
c.*1991T>G (n.*1991T>G)
n.2833T>G
c.2638T>G (p.Tyr880Asp)
c.1141T>G (p.Tyr381Asp)
c.766T>G (p.Tyr256Asp)
c.2572T>G (p.Tyr858Asp)
c.838T>G (p.Tyr280Asp)
c.634T>G (p.Tyr212Asp)
n.2756T>G
2g.27459464A>GCA346382324IFT172c.2701T>C (p.Tyr901His)
c.*1874T>C (n.*1874T>C)
c.*716T>C (n.*716T>C)
c.*2298T>C (n.*2298T>C)
c.2020T>C (p.Tyr674His)
c.2635T>C (p.Tyr879His)
c.*1991T>C (n.*1991T>C)
n.2833T>C
c.2638T>C (p.Tyr880His)
c.1141T>C (p.Tyr381His)
c.766T>C (p.Tyr256His)
c.2572T>C (p.Tyr858His)
c.838T>C (p.Tyr280His)
c.634T>C (p.Tyr212His)
n.2756T>C
2g.27459464A>TCA346382325IFT172c.2701T>A (p.Tyr901Asn)
c.*1874T>A (n.*1874T>A)
c.*716T>A (n.*716T>A)
c.*2298T>A (n.*2298T>A)
c.2020T>A (p.Tyr674Asn)
c.2635T>A (p.Tyr879Asn)
c.*1991T>A (n.*1991T>A)
n.2833T>A
c.2638T>A (p.Tyr880Asn)
c.1141T>A (p.Tyr381Asn)
c.766T>A (p.Tyr256Asn)
c.2572T>A (p.Tyr858Asn)
c.838T>A (p.Tyr280Asn)
c.634T>A (p.Tyr212Asn)
n.2756T>A
2g.27459465A>CCA346382326IFT172c.2700T>G (p.Ile900Met)
c.*1873T>G (n.*1873T>G)
c.*715T>G (n.*715T>G)
c.*2297T>G (n.*2297T>G)
c.2019T>G (p.Ile673Met)
c.2634T>G (p.Ile878Met)
c.*1990T>G (n.*1990T>G)
n.2832T>G
c.2637T>G (p.Ile879Met)
c.1140T>G (p.Ile380Met)
c.765T>G (p.Ile255Met)
c.2571T>G (p.Ile857Met)
c.837T>G (p.Ile279Met)
c.633T>G (p.Ile211Met)
n.2755T>G
2g.27459465A>GCA425405249IFT172c.2700T>C (p.Ile900=)
c.*1873T>C (n.*1873T>C)
c.*715T>C (n.*715T>C)
c.*2297T>C (n.*2297T>C)
c.2019T>C (p.Ile673=)
c.2634T>C (p.Ile878=)
c.*1990T>C (n.*1990T>C)
n.2832T>C
c.2637T>C (p.Ile879=)
c.1140T>C (p.Ile380=)
c.765T>C (p.Ile255=)
c.2571T>C (p.Ile857=)
c.837T>C (p.Ile279=)
c.633T>C (p.Ile211=)
n.2755T>C
2g.27459465A>TCA425405252IFT172c.2700T>A (p.Ile900=)
c.*1873T>A (n.*1873T>A)
c.*715T>A (n.*715T>A)
c.*2297T>A (n.*2297T>A)
c.2019T>A (p.Ile673=)
c.2634T>A (p.Ile878=)
c.*1990T>A (n.*1990T>A)
n.2832T>A
c.2637T>A (p.Ile879=)
c.1140T>A (p.Ile380=)
c.765T>A (p.Ile255=)
c.2571T>A (p.Ile857=)
c.837T>A (p.Ile279=)
c.633T>A (p.Ile211=)
n.2755T>A
2g.27459466A>CCA346382328IFT172c.2699T>G (p.Ile900Ser)
c.*1872T>G (n.*1872T>G)
c.*714T>G (n.*714T>G)
c.*2296T>G (n.*2296T>G)
c.2018T>G (p.Ile673Ser)
c.2633T>G (p.Ile878Ser)
c.*1989T>G (n.*1989T>G)
n.2831T>G
c.2636T>G (p.Ile879Ser)
c.1139T>G (p.Ile380Ser)
c.764T>G (p.Ile255Ser)
c.2570T>G (p.Ile857Ser)
c.836T>G (p.Ile279Ser)
c.632T>G (p.Ile211Ser)
n.2754T>G
2g.27459466A>GCA346382329IFT172c.2699T>C (p.Ile900Thr)
c.*1872T>C (n.*1872T>C)
c.*714T>C (n.*714T>C)
c.*2296T>C (n.*2296T>C)
c.2018T>C (p.Ile673Thr)
c.2633T>C (p.Ile878Thr)
c.*1989T>C (n.*1989T>C)
n.2831T>C
c.2636T>C (p.Ile879Thr)
c.1139T>C (p.Ile380Thr)
c.764T>C (p.Ile255Thr)
c.2570T>C (p.Ile857Thr)
c.836T>C (p.Ile279Thr)
c.632T>C (p.Ile211Thr)
n.2754T>C
2g.27459466A>TCA346382327IFT172c.2699T>A (p.Ile900Asn)
c.*1872T>A (n.*1872T>A)
c.*714T>A (n.*714T>A)
c.*2296T>A (n.*2296T>A)
c.2018T>A (p.Ile673Asn)
c.2633T>A (p.Ile878Asn)
c.*1989T>A (n.*1989T>A)
n.2831T>A
c.2636T>A (p.Ile879Asn)
c.1139T>A (p.Ile380Asn)
c.764T>A (p.Ile255Asn)
c.2570T>A (p.Ile857Asn)
c.836T>A (p.Ile279Asn)
c.632T>A (p.Ile211Asn)
n.2754T>A
2g.27459467T>ACA346382332IFT172c.2698A>T (p.Ile900Phe)
c.*1871A>T (n.*1871A>T)
c.*713A>T (n.*713A>T)
c.*2295A>T (n.*2295A>T)
c.2017A>T (p.Ile673Phe)
c.2632A>T (p.Ile878Phe)
c.*1988A>T (n.*1988A>T)
n.2830A>T
c.2635A>T (p.Ile879Phe)
c.1138A>T (p.Ile380Phe)
c.763A>T (p.Ile255Phe)
c.2569A>T (p.Ile857Phe)
c.835A>T (p.Ile279Phe)
c.631A>T (p.Ile211Phe)
n.2753A>T
2g.27459467T>CCA346382330IFT172c.2698A>G (p.Ile900Val)
c.*1871A>G (n.*1871A>G)
c.*713A>G (n.*713A>G)
c.*2295A>G (n.*2295A>G)
c.2017A>G (p.Ile673Val)
c.2632A>G (p.Ile878Val)
c.*1988A>G (n.*1988A>G)
n.2830A>G
c.2635A>G (p.Ile879Val)
c.1138A>G (p.Ile380Val)
c.763A>G (p.Ile255Val)
c.2569A>G (p.Ile857Val)
c.835A>G (p.Ile279Val)
c.631A>G (p.Ile211Val)
n.2753A>G
2g.27459467T>GCA346382331IFT172c.2698A>C (p.Ile900Leu)
c.*1871A>C (n.*1871A>C)
c.*713A>C (n.*713A>C)
c.*2295A>C (n.*2295A>C)
c.2017A>C (p.Ile673Leu)
c.2632A>C (p.Ile878Leu)
c.*1988A>C (n.*1988A>C)
n.2830A>C
c.2635A>C (p.Ile879Leu)
c.1138A>C (p.Ile380Leu)
c.763A>C (p.Ile255Leu)
c.2569A>C (p.Ile857Leu)
c.835A>C (p.Ile279Leu)
c.631A>C (p.Ile211Leu)
n.2753A>C
2g.27459468T>ACA425405269IFT172c.2697A>T (p.Ala899=)
c.*1870A>T (n.*1870A>T)
c.*712A>T (n.*712A>T)
c.*2294A>T (n.*2294A>T)
c.2016A>T (p.Ala672=)
c.2631A>T (p.Ala877=)
c.*1987A>T (n.*1987A>T)
n.2829A>T
c.2634A>T (p.Ala878=)
c.1137A>T (p.Ala379=)
c.762A>T (p.Ala254=)
c.2568A>T (p.Ala856=)
c.834A>T (p.Ala278=)
c.630A>T (p.Ala210=)
n.2752A>T
2g.27459468T>CCA425405279IFT172c.2697A>G (p.Ala899=)
c.*1870A>G (n.*1870A>G)
c.*712A>G (n.*712A>G)
c.*2294A>G (n.*2294A>G)
c.2016A>G (p.Ala672=)
c.2631A>G (p.Ala877=)
c.*1987A>G (n.*1987A>G)
n.2829A>G
c.2634A>G (p.Ala878=)
c.1137A>G (p.Ala379=)
c.762A>G (p.Ala254=)
c.2568A>G (p.Ala856=)
c.834A>G (p.Ala278=)
c.630A>G (p.Ala210=)
n.2752A>G
2g.27459468T>GCA425405276IFT172c.2697A>C (p.Ala899=)
c.*1870A>C (n.*1870A>C)
c.*712A>C (n.*712A>C)
c.*2294A>C (n.*2294A>C)
c.2016A>C (p.Ala672=)
c.2631A>C (p.Ala877=)
c.*1987A>C (n.*1987A>C)
n.2829A>C
c.2634A>C (p.Ala878=)
c.1137A>C (p.Ala379=)
c.762A>C (p.Ala254=)
c.2568A>C (p.Ala856=)
c.834A>C (p.Ala278=)
c.630A>C (p.Ala210=)
n.2752A>C
2g.27459469G>ACA346382333IFT172c.2696C>T (p.Ala899Val)
c.*1869C>T (n.*1869C>T)
c.*711C>T (n.*711C>T)
c.*2293C>T (n.*2293C>T)
c.2015C>T (p.Ala672Val)
c.2630C>T (p.Ala877Val)
c.*1986C>T (n.*1986C>T)
n.2828C>T
c.2633C>T (p.Ala878Val)
c.1136C>T (p.Ala379Val)
c.761C>T (p.Ala254Val)
c.2567C>T (p.Ala856Val)
c.833C>T (p.Ala278Val)
c.629C>T (p.Ala210Val)
n.2751C>T
 ClinVar dbSNP
2g.27459469G>CCA346382334IFT172c.2696C>G (p.Ala899Gly)
c.*1869C>G (n.*1869C>G)
c.*711C>G (n.*711C>G)
c.*2293C>G (n.*2293C>G)
c.2015C>G (p.Ala672Gly)
c.2630C>G (p.Ala877Gly)
c.*1986C>G (n.*1986C>G)
n.2828C>G
c.2633C>G (p.Ala878Gly)
c.1136C>G (p.Ala379Gly)
c.761C>G (p.Ala254Gly)
c.2567C>G (p.Ala856Gly)
c.833C>G (p.Ala278Gly)
c.629C>G (p.Ala210Gly)
n.2751C>G
2g.27459469G=CA1240289093IFT172c.2696C= (p.Ala899=)
c.*1869C= (n.*1869C=)
c.*711C= (n.*711C=)
c.*2293C= (n.*2293C=)
c.2015C= (p.Ala672=)
c.2630C= (p.Ala877=)
c.*1986C= (n.*1986C=)
n.2828C=
c.2633C= (p.Ala878=)
c.1136C= (p.Ala379=)
c.761C= (p.Ala254=)
c.2567C= (p.Ala856=)
c.833C= (p.Ala278=)
c.629C= (p.Ala210=)
n.2751C=
2g.27459469G>TCA346382335IFT172c.2696C>A (p.Ala899Glu)
c.*1869C>A (n.*1869C>A)
c.*711C>A (n.*711C>A)
c.*2293C>A (n.*2293C>A)
c.2015C>A (p.Ala672Glu)
c.2630C>A (p.Ala877Glu)
c.*1986C>A (n.*1986C>A)
n.2828C>A
c.2633C>A (p.Ala878Glu)
c.1136C>A (p.Ala379Glu)
c.761C>A (p.Ala254Glu)
c.2567C>A (p.Ala856Glu)
c.833C>A (p.Ala278Glu)
c.629C>A (p.Ala210Glu)
n.2751C>A
2g.27459470C>ACA346382336IFT172c.2695G>T (p.Ala899Ser)
c.*1868G>T (n.*1868G>T)
c.*710G>T (n.*710G>T)
c.*2292G>T (n.*2292G>T)
c.2014G>T (p.Ala672Ser)
c.2629G>T (p.Ala877Ser)
c.*1985G>T (n.*1985G>T)
n.2827G>T
c.2632G>T (p.Ala878Ser)
c.1135G>T (p.Ala379Ser)
c.760G>T (p.Ala254Ser)
c.2566G>T (p.Ala856Ser)
c.832G>T (p.Ala278Ser)
c.628G>T (p.Ala210Ser)
n.2750G>T
2g.27459470C=CA1240289094IFT172c.2695G= (p.Ala899=)
c.*1868G= (n.*1868G=)
c.*710G= (n.*710G=)
c.*2292G= (n.*2292G=)
c.2014G= (p.Ala672=)
c.2629G= (p.Ala877=)
c.*1985G= (n.*1985G=)
n.2827G=
c.2632G= (p.Ala878=)
c.1135G= (p.Ala379=)
c.760G= (p.Ala254=)
c.2566G= (p.Ala856=)
c.832G= (p.Ala278=)
c.628G= (p.Ala210=)
n.2750G=
2g.27459470C>GCA346382337IFT172c.2695G>C (p.Ala899Pro)
c.*1868G>C (n.*1868G>C)
c.*710G>C (n.*710G>C)
c.*2292G>C (n.*2292G>C)
c.2014G>C (p.Ala672Pro)
c.2629G>C (p.Ala877Pro)
c.*1985G>C (n.*1985G>C)
n.2827G>C
c.2632G>C (p.Ala878Pro)
c.1135G>C (p.Ala379Pro)
c.760G>C (p.Ala254Pro)
c.2566G>C (p.Ala856Pro)
c.832G>C (p.Ala278Pro)
c.628G>C (p.Ala210Pro)
n.2750G>C
2g.27459470C>TCA1580211IFT172c.2695G>A (p.Ala899Thr)
c.*1868G>A (n.*1868G>A)
c.*710G>A (n.*710G>A)
c.*2292G>A (n.*2292G>A)
c.2014G>A (p.Ala672Thr)
c.2629G>A (p.Ala877Thr)
c.*1985G>A (n.*1985G>A)
n.2827G>A
c.2632G>A (p.Ala878Thr)
c.1135G>A (p.Ala379Thr)
c.760G>A (p.Ala254Thr)
c.2566G>A (p.Ala856Thr)
c.832G>A (p.Ala278Thr)
c.628G>A (p.Ala210Thr)
n.2750G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27459471C>ACA346382338IFT172c.2694G>T (p.Lys898Asn)
c.*1867G>T (n.*1867G>T)
c.*709G>T (n.*709G>T)
c.*2291G>T (n.*2291G>T)
c.2013G>T (p.Lys671Asn)
c.2628G>T (p.Lys876Asn)
c.*1984G>T (n.*1984G>T)
n.2826G>T
c.2631G>T (p.Lys877Asn)
c.1134G>T (p.Lys378Asn)
c.759G>T (p.Lys253Asn)
c.2565G>T (p.Lys855Asn)
c.831G>T (p.Lys277Asn)
c.627G>T (p.Lys209Asn)
n.2749G>T
2g.27459471C>GCA346382339IFT172c.2694G>C (p.Lys898Asn)
c.*1867G>C (n.*1867G>C)
c.*709G>C (n.*709G>C)
c.*2291G>C (n.*2291G>C)
c.2013G>C (p.Lys671Asn)
c.2628G>C (p.Lys876Asn)
c.*1984G>C (n.*1984G>C)
n.2826G>C
c.2631G>C (p.Lys877Asn)
c.1134G>C (p.Lys378Asn)
c.759G>C (p.Lys253Asn)
c.2565G>C (p.Lys855Asn)
c.831G>C (p.Lys277Asn)
c.627G>C (p.Lys209Asn)
n.2749G>C
2g.27459471C>TCA425405301IFT172c.2694G>A (p.Lys898=)
c.*1867G>A (n.*1867G>A)
c.*709G>A (n.*709G>A)
c.*2291G>A (n.*2291G>A)
c.2013G>A (p.Lys671=)
c.2628G>A (p.Lys876=)
c.*1984G>A (n.*1984G>A)
n.2826G>A
c.2631G>A (p.Lys877=)
c.1134G>A (p.Lys378=)
c.759G>A (p.Lys253=)
c.2565G>A (p.Lys855=)
c.831G>A (p.Lys277=)
c.627G>A (p.Lys209=)
n.2749G>A
2g.27459472T>ACA346382340IFT172c.2693A>T (p.Lys898Met)
c.*1866A>T (n.*1866A>T)
c.*708A>T (n.*708A>T)
c.*2290A>T (n.*2290A>T)
c.2012A>T (p.Lys671Met)
c.2627A>T (p.Lys876Met)
c.*1983A>T (n.*1983A>T)
n.2825A>T
c.2630A>T (p.Lys877Met)
c.1133A>T (p.Lys378Met)
c.758A>T (p.Lys253Met)
c.2564A>T (p.Lys855Met)
c.830A>T (p.Lys277Met)
c.626A>T (p.Lys209Met)
n.2748A>T
2g.27459472T>CCA44494781IFT172c.2693A>G (p.Lys898Arg)
c.*1866A>G (n.*1866A>G)
c.*708A>G (n.*708A>G)
c.*2290A>G (n.*2290A>G)
c.2012A>G (p.Lys671Arg)
c.2627A>G (p.Lys876Arg)
c.*1983A>G (n.*1983A>G)
n.2825A>G
c.2630A>G (p.Lys877Arg)
c.1133A>G (p.Lys378Arg)
c.758A>G (p.Lys253Arg)
c.2564A>G (p.Lys855Arg)
c.830A>G (p.Lys277Arg)
c.626A>G (p.Lys209Arg)
n.2748A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.27459472T>GCA346382341IFT172c.2693A>C (p.Lys898Thr)
c.*1866A>C (n.*1866A>C)
c.*708A>C (n.*708A>C)
c.*2290A>C (n.*2290A>C)
c.2012A>C (p.Lys671Thr)
c.2627A>C (p.Lys876Thr)
c.*1983A>C (n.*1983A>C)
n.2825A>C
c.2630A>C (p.Lys877Thr)
c.1133A>C (p.Lys378Thr)
c.758A>C (p.Lys253Thr)
c.2564A>C (p.Lys855Thr)
c.830A>C (p.Lys277Thr)
c.626A>C (p.Lys209Thr)
n.2748A>C
2g.27459472T=CA1240289095IFT172c.2693A= (p.Lys898=)
c.*1866A= (n.*1866A=)
c.*708A= (n.*708A=)
c.*2290A= (n.*2290A=)
c.2012A= (p.Lys671=)
c.2627A= (p.Lys876=)
c.*1983A= (n.*1983A=)
n.2825A=
c.2630A= (p.Lys877=)
c.1133A= (p.Lys378=)
c.758A= (p.Lys253=)
c.2564A= (p.Lys855=)
c.830A= (p.Lys277=)
c.626A= (p.Lys209=)
n.2748A=
2g.27459473T>ACA346382344IFT172c.2692A>T (p.Lys898Ter)
c.*1865A>T (n.*1865A>T)
c.*707A>T (n.*707A>T)
c.*2289A>T (n.*2289A>T)
c.2011A>T (p.Lys671Ter)
c.2626A>T (p.Lys876Ter)
c.*1982A>T (n.*1982A>T)
n.2824A>T
c.2629A>T (p.Lys877Ter)
c.1132A>T (p.Lys378Ter)
c.757A>T (p.Lys253Ter)
c.2563A>T (p.Lys855Ter)
c.829A>T (p.Lys277Ter)
c.625A>T (p.Lys209Ter)
n.2747A>T
2g.27459473T>CCA346382343IFT172c.2692A>G (p.Lys898Glu)
c.*1865A>G (n.*1865A>G)
c.*707A>G (n.*707A>G)
c.*2289A>G (n.*2289A>G)
c.2011A>G (p.Lys671Glu)
c.2626A>G (p.Lys876Glu)
c.*1982A>G (n.*1982A>G)
n.2824A>G
c.2629A>G (p.Lys877Glu)
c.1132A>G (p.Lys378Glu)
c.757A>G (p.Lys253Glu)
c.2563A>G (p.Lys855Glu)
c.829A>G (p.Lys277Glu)
c.625A>G (p.Lys209Glu)
n.2747A>G
2g.27459473T>GCA346382342IFT172c.2692A>C (p.Lys898Gln)
c.*1865A>C (n.*1865A>C)
c.*707A>C (n.*707A>C)
c.*2289A>C (n.*2289A>C)
c.2011A>C (p.Lys671Gln)
c.2626A>C (p.Lys876Gln)
c.*1982A>C (n.*1982A>C)
n.2824A>C
c.2629A>C (p.Lys877Gln)
c.1132A>C (p.Lys378Gln)
c.757A>C (p.Lys253Gln)
c.2563A>C (p.Lys855Gln)
c.829A>C (p.Lys277Gln)
c.625A>C (p.Lys209Gln)
n.2747A>C
2g.27459474C>ACA346382345IFT172c.2691G>T (p.Lys897Asn)
c.*1864G>T (n.*1864G>T)
c.*706G>T (n.*706G>T)
c.*2288G>T (n.*2288G>T)
c.2010G>T (p.Lys670Asn)
c.2625G>T (p.Lys875Asn)
c.*1981G>T (n.*1981G>T)
n.2823G>T
c.2628G>T (p.Lys876Asn)
c.1131G>T (p.Lys377Asn)
c.756G>T (p.Lys252Asn)
c.2562G>T (p.Lys854Asn)
c.828G>T (p.Lys276Asn)
c.624G>T (p.Lys208Asn)
n.2746G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.27459474C=CA1240289096IFT172c.2691G= (p.Lys897=)
c.*1864G= (n.*1864G=)
c.*706G= (n.*706G=)
c.*2288G= (n.*2288G=)
c.2010G= (p.Lys670=)
c.2625G= (p.Lys875=)
c.*1981G= (n.*1981G=)
n.2823G=
c.2628G= (p.Lys876=)
c.1131G= (p.Lys377=)
c.756G= (p.Lys252=)
c.2562G= (p.Lys854=)
c.828G= (p.Lys276=)
c.624G= (p.Lys208=)
n.2746G=
2g.27459474C>GCA346382346IFT172c.2691G>C (p.Lys897Asn)
c.*1864G>C (n.*1864G>C)
c.*706G>C (n.*706G>C)
c.*2288G>C (n.*2288G>C)
c.2010G>C (p.Lys670Asn)
c.2625G>C (p.Lys875Asn)
c.*1981G>C (n.*1981G>C)
n.2823G>C
c.2628G>C (p.Lys876Asn)
c.1131G>C (p.Lys377Asn)
c.756G>C (p.Lys252Asn)
c.2562G>C (p.Lys854Asn)
c.828G>C (p.Lys276Asn)
c.624G>C (p.Lys208Asn)
n.2746G>C
2g.27459474C>TCA425405321IFT172c.2691G>A (p.Lys897=)
c.*1864G>A (n.*1864G>A)
c.*706G>A (n.*706G>A)
c.*2288G>A (n.*2288G>A)
c.2010G>A (p.Lys670=)
c.2625G>A (p.Lys875=)
c.*1981G>A (n.*1981G>A)
n.2823G>A
c.2628G>A (p.Lys876=)
c.1131G>A (p.Lys377=)
c.756G>A (p.Lys252=)
c.2562G>A (p.Lys854=)
c.828G>A (p.Lys276=)
c.624G>A (p.Lys208=)
n.2746G>A
 ClinVar dbSNP
2g.27459474_27459492delCA2749270047IFT172c.2673_2691del (p.Gly892ArgfsTer6)
c.*1846_*1864del (n.*1846_*1864del)
c.*688_*706del (n.*688_*706del)
c.*2270_*2288del (n.*2270_*2288del)
c.1992_2010del (p.Gly665ArgfsTer6)
c.2607_2625del (p.Gly870ArgfsTer6)
c.*1963_*1981del (n.*1963_*1981del)
n.2805_2823del
c.2610_2628del (p.Gly871ArgfsTer6)
c.1113_1131del (p.Gly372ArgfsTer6)
c.738_756del (p.Gly247ArgfsTer6)
c.2544_2562del (p.Gly849ArgfsTer6)
c.810_828del (p.Gly271ArgfsTer6)
c.606_624del (p.Gly203ArgfsTer6)
n.2728_2746del
2g.27459475T>ACA346382347IFT172c.2690A>T (p.Lys897Met)
c.*1863A>T (n.*1863A>T)
c.*705A>T (n.*705A>T)
c.*2287A>T (n.*2287A>T)
c.2009A>T (p.Lys670Met)
c.2624A>T (p.Lys875Met)
c.*1980A>T (n.*1980A>T)
n.2822A>T
c.2627A>T (p.Lys876Met)
c.1130A>T (p.Lys377Met)
c.755A>T (p.Lys252Met)
c.2561A>T (p.Lys854Met)
c.827A>T (p.Lys276Met)
c.623A>T (p.Lys208Met)
n.2745A>T
2g.27459475T>CCA346382348IFT172c.2690A>G (p.Lys897Arg)
c.*1863A>G (n.*1863A>G)
c.*705A>G (n.*705A>G)
c.*2287A>G (n.*2287A>G)
c.2009A>G (p.Lys670Arg)
c.2624A>G (p.Lys875Arg)
c.*1980A>G (n.*1980A>G)
n.2822A>G
c.2627A>G (p.Lys876Arg)
c.1130A>G (p.Lys377Arg)
c.755A>G (p.Lys252Arg)
c.2561A>G (p.Lys854Arg)
c.827A>G (p.Lys276Arg)
c.623A>G (p.Lys208Arg)
n.2745A>G
2g.27459475T>GCA346382349IFT172c.2690A>C (p.Lys897Thr)
c.*1863A>C (n.*1863A>C)
c.*705A>C (n.*705A>C)
c.*2287A>C (n.*2287A>C)
c.2009A>C (p.Lys670Thr)
c.2624A>C (p.Lys875Thr)
c.*1980A>C (n.*1980A>C)
n.2822A>C
c.2627A>C (p.Lys876Thr)
c.1130A>C (p.Lys377Thr)
c.755A>C (p.Lys252Thr)
c.2561A>C (p.Lys854Thr)
c.827A>C (p.Lys276Thr)
c.623A>C (p.Lys208Thr)
n.2745A>C
2g.27459476T>ACA1580212IFT172c.2689A>T (p.Lys897Ter)
c.*1862A>T (n.*1862A>T)
c.*704A>T (n.*704A>T)
c.*2286A>T (n.*2286A>T)
c.2008A>T (p.Lys670Ter)
c.2623A>T (p.Lys875Ter)
c.*1979A>T (n.*1979A>T)
n.2821A>T
c.2626A>T (p.Lys876Ter)
c.1129A>T (p.Lys377Ter)
c.754A>T (p.Lys252Ter)
c.2560A>T (p.Lys854Ter)
c.826A>T (p.Lys276Ter)
c.622A>T (p.Lys208Ter)
n.2744A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27459476T>CCA346382350IFT172c.2689A>G (p.Lys897Glu)
c.*1862A>G (n.*1862A>G)
c.*704A>G (n.*704A>G)
c.*2286A>G (n.*2286A>G)
c.2008A>G (p.Lys670Glu)
c.2623A>G (p.Lys875Glu)
c.*1979A>G (n.*1979A>G)
n.2821A>G
c.2626A>G (p.Lys876Glu)
c.1129A>G (p.Lys377Glu)
c.754A>G (p.Lys252Glu)
c.2560A>G (p.Lys854Glu)
c.826A>G (p.Lys276Glu)
c.622A>G (p.Lys208Glu)
n.2744A>G
2g.27459476T>GCA346382351IFT172c.2689A>C (p.Lys897Gln)
c.*1862A>C (n.*1862A>C)
c.*704A>C (n.*704A>C)
c.*2286A>C (n.*2286A>C)
c.2008A>C (p.Lys670Gln)
c.2623A>C (p.Lys875Gln)
c.*1979A>C (n.*1979A>C)
n.2821A>C
c.2626A>C (p.Lys876Gln)
c.1129A>C (p.Lys377Gln)
c.754A>C (p.Lys252Gln)
c.2560A>C (p.Lys854Gln)
c.826A>C (p.Lys276Gln)
c.622A>C (p.Lys208Gln)
n.2744A>C
2g.27459476T=CA1240289097IFT172c.2689A= (p.Lys897=)
c.*1862A= (n.*1862A=)
c.*704A= (n.*704A=)
c.*2286A= (n.*2286A=)
c.2008A= (p.Lys670=)
c.2623A= (p.Lys875=)
c.*1979A= (n.*1979A=)
n.2821A=
c.2626A= (p.Lys876=)
c.1129A= (p.Lys377=)
c.754A= (p.Lys252=)
c.2560A= (p.Lys854=)
c.826A= (p.Lys276=)
c.622A= (p.Lys208=)
n.2744A=
2g.27459477C>ACA346382352IFT172c.2688G>T (p.Trp896Cys)
c.*1861G>T (n.*1861G>T)
c.*703G>T (n.*703G>T)
c.*2285G>T (n.*2285G>T)
c.2007G>T (p.Trp669Cys)
c.2622G>T (p.Trp874Cys)
c.*1978G>T (n.*1978G>T)
n.2820G>T
c.2625G>T (p.Trp875Cys)
c.1128G>T (p.Trp376Cys)
c.753G>T (p.Trp251Cys)
c.2559G>T (p.Trp853Cys)
c.825G>T (p.Trp275Cys)
c.621G>T (p.Trp207Cys)
n.2743G>T
2g.27459477C>GCA346382353IFT172c.2688G>C (p.Trp896Cys)
c.*1861G>C (n.*1861G>C)
c.*703G>C (n.*703G>C)
c.*2285G>C (n.*2285G>C)
c.2007G>C (p.Trp669Cys)
c.2622G>C (p.Trp874Cys)
c.*1978G>C (n.*1978G>C)
n.2820G>C
c.2625G>C (p.Trp875Cys)
c.1128G>C (p.Trp376Cys)
c.753G>C (p.Trp251Cys)
c.2559G>C (p.Trp853Cys)
c.825G>C (p.Trp275Cys)
c.621G>C (p.Trp207Cys)
n.2743G>C
2g.27459477C>TCA346382354IFT172c.2688G>A (p.Trp896Ter)
c.*1861G>A (n.*1861G>A)
c.*703G>A (n.*703G>A)
c.*2285G>A (n.*2285G>A)
c.2007G>A (p.Trp669Ter)
c.2622G>A (p.Trp874Ter)
c.*1978G>A (n.*1978G>A)
n.2820G>A
c.2625G>A (p.Trp875Ter)
c.1128G>A (p.Trp376Ter)
c.753G>A (p.Trp251Ter)
c.2559G>A (p.Trp853Ter)
c.825G>A (p.Trp275Ter)
c.621G>A (p.Trp207Ter)
n.2743G>A
2g.27459478C>ACA346382355IFT172c.2687G>T (p.Trp896Leu)
c.*1860G>T (n.*1860G>T)
c.*702G>T (n.*702G>T)
c.*2284G>T (n.*2284G>T)
c.2006G>T (p.Trp669Leu)
c.2621G>T (p.Trp874Leu)
c.*1977G>T (n.*1977G>T)
n.2819G>T
c.2624G>T (p.Trp875Leu)
c.1127G>T (p.Trp376Leu)
c.752G>T (p.Trp251Leu)
c.2558G>T (p.Trp853Leu)
c.824G>T (p.Trp275Leu)
c.620G>T (p.Trp207Leu)
n.2742G>T
2g.27459478C>GCA346382356IFT172c.2687G>C (p.Trp896Ser)
c.*1860G>C (n.*1860G>C)
c.*702G>C (n.*702G>C)
c.*2284G>C (n.*2284G>C)
c.2006G>C (p.Trp669Ser)
c.2621G>C (p.Trp874Ser)
c.*1977G>C (n.*1977G>C)
n.2819G>C
c.2624G>C (p.Trp875Ser)
c.1127G>C (p.Trp376Ser)
c.752G>C (p.Trp251Ser)
c.2558G>C (p.Trp853Ser)
c.824G>C (p.Trp275Ser)
c.620G>C (p.Trp207Ser)
n.2742G>C
2g.27459478C>TCA346382357IFT172c.2687G>A (p.Trp896Ter)
c.*1860G>A (n.*1860G>A)
c.*702G>A (n.*702G>A)
c.*2284G>A (n.*2284G>A)
c.2006G>A (p.Trp669Ter)
c.2621G>A (p.Trp874Ter)
c.*1977G>A (n.*1977G>A)
n.2819G>A
c.2624G>A (p.Trp875Ter)
c.1127G>A (p.Trp376Ter)
c.752G>A (p.Trp251Ter)
c.2558G>A (p.Trp853Ter)
c.824G>A (p.Trp275Ter)
c.620G>A (p.Trp207Ter)
n.2742G>A
 gnomAD v4
2g.27459479A>CCA346382359IFT172c.2686T>G (p.Trp896Gly)
c.*1859T>G (n.*1859T>G)
c.*701T>G (n.*701T>G)
c.*2283T>G (n.*2283T>G)
c.2005T>G (p.Trp669Gly)
c.2620T>G (p.Trp874Gly)
c.*1976T>G (n.*1976T>G)
n.2818T>G
c.2623T>G (p.Trp875Gly)
c.1126T>G (p.Trp376Gly)
c.751T>G (p.Trp251Gly)
c.2557T>G (p.Trp853Gly)
c.823T>G (p.Trp275Gly)
c.619T>G (p.Trp207Gly)
n.2741T>G
2g.27459479A>GCA346382360IFT172c.2686T>C (p.Trp896Arg)
c.*1859T>C (n.*1859T>C)
c.*701T>C (n.*701T>C)
c.*2283T>C (n.*2283T>C)
c.2005T>C (p.Trp669Arg)
c.2620T>C (p.Trp874Arg)
c.*1976T>C (n.*1976T>C)
n.2818T>C
c.2623T>C (p.Trp875Arg)
c.1126T>C (p.Trp376Arg)
c.751T>C (p.Trp251Arg)
c.2557T>C (p.Trp853Arg)
c.823T>C (p.Trp275Arg)
c.619T>C (p.Trp207Arg)
n.2741T>C
2g.27459479A>TCA346382358IFT172c.2686T>A (p.Trp896Arg)
c.*1859T>A (n.*1859T>A)
c.*701T>A (n.*701T>A)
c.*2283T>A (n.*2283T>A)
c.2005T>A (p.Trp669Arg)
c.2620T>A (p.Trp874Arg)
c.*1976T>A (n.*1976T>A)
n.2818T>A
c.2623T>A (p.Trp875Arg)
c.1126T>A (p.Trp376Arg)
c.751T>A (p.Trp251Arg)
c.2557T>A (p.Trp853Arg)
c.823T>A (p.Trp275Arg)
c.619T>A (p.Trp207Arg)
n.2741T>A
2g.27459480C>ACA346382361IFT172c.2685G>T (p.Gln895His)
c.*1858G>T (n.*1858G>T)
c.*700G>T (n.*700G>T)
c.*2282G>T (n.*2282G>T)
c.2004G>T (p.Gln668His)
c.2619G>T (p.Gln873His)
c.*1975G>T (n.*1975G>T)
n.2817G>T
c.2622G>T (p.Gln874His)
c.1125G>T (p.Gln375His)
c.750G>T (p.Gln250His)
c.2556G>T (p.Gln852His)
c.822G>T (p.Gln274His)
c.618G>T (p.Gln206His)
n.2740G>T
2g.27459480C=CA1240289098IFT172c.2685G= (p.Gln895=)
c.*1858G= (n.*1858G=)
c.*700G= (n.*700G=)
c.*2282G= (n.*2282G=)
c.2004G= (p.Gln668=)
c.2619G= (p.Gln873=)
c.*1975G= (n.*1975G=)
n.2817G=
c.2622G= (p.Gln874=)
c.1125G= (p.Gln375=)
c.750G= (p.Gln250=)
c.2556G= (p.Gln852=)
c.822G= (p.Gln274=)
c.618G= (p.Gln206=)
n.2740G=
2g.27459480C>GCA346382362IFT172c.2685G>C (p.Gln895His)
c.*1858G>C (n.*1858G>C)
c.*700G>C (n.*700G>C)
c.*2282G>C (n.*2282G>C)
c.2004G>C (p.Gln668His)
c.2619G>C (p.Gln873His)
c.*1975G>C (n.*1975G>C)
n.2817G>C
c.2622G>C (p.Gln874His)
c.1125G>C (p.Gln375His)
c.750G>C (p.Gln250His)
c.2556G>C (p.Gln852His)
c.822G>C (p.Gln274His)
c.618G>C (p.Gln206His)
n.2740G>C
 dbSNP
2g.27459480C>TCA425405345IFT172c.2685G>A (p.Gln895=)
c.*1858G>A (n.*1858G>A)
c.*700G>A (n.*700G>A)
c.*2282G>A (n.*2282G>A)
c.2004G>A (p.Gln668=)
c.2619G>A (p.Gln873=)
c.*1975G>A (n.*1975G>A)
n.2817G>A
c.2622G>A (p.Gln874=)
c.1125G>A (p.Gln375=)
c.750G>A (p.Gln250=)
c.2556G>A (p.Gln852=)
c.822G>A (p.Gln274=)
c.618G>A (p.Gln206=)
n.2740G>A
 ClinVar
2g.27459481T>ACA346382363IFT172c.2684A>T (p.Gln895Leu)
c.*1857A>T (n.*1857A>T)
c.*699A>T (n.*699A>T)
c.*2281A>T (n.*2281A>T)
c.2003A>T (p.Gln668Leu)
c.2618A>T (p.Gln873Leu)
c.*1974A>T (n.*1974A>T)
n.2816A>T
c.2621A>T (p.Gln874Leu)
c.1124A>T (p.Gln375Leu)
c.749A>T (p.Gln250Leu)
c.2555A>T (p.Gln852Leu)
c.821A>T (p.Gln274Leu)
c.617A>T (p.Gln206Leu)
n.2739A>T
2g.27459481T>CCA346382364IFT172c.2684A>G (p.Gln895Arg)
c.*1857A>G (n.*1857A>G)
c.*699A>G (n.*699A>G)
c.*2281A>G (n.*2281A>G)
c.2003A>G (p.Gln668Arg)
c.2618A>G (p.Gln873Arg)
c.*1974A>G (n.*1974A>G)
n.2816A>G
c.2621A>G (p.Gln874Arg)
c.1124A>G (p.Gln375Arg)
c.749A>G (p.Gln250Arg)
c.2555A>G (p.Gln852Arg)
c.821A>G (p.Gln274Arg)
c.617A>G (p.Gln206Arg)
n.2739A>G
2g.27459481T>GCA346382365IFT172c.2684A>C (p.Gln895Pro)
c.*1857A>C (n.*1857A>C)
c.*699A>C (n.*699A>C)
c.*2281A>C (n.*2281A>C)
c.2003A>C (p.Gln668Pro)
c.2618A>C (p.Gln873Pro)
c.*1974A>C (n.*1974A>C)
n.2816A>C
c.2621A>C (p.Gln874Pro)
c.1124A>C (p.Gln375Pro)
c.749A>C (p.Gln250Pro)
c.2555A>C (p.Gln852Pro)
c.821A>C (p.Gln274Pro)
c.617A>C (p.Gln206Pro)
n.2739A>C
2g.27459482G>ACA346382366IFT172c.2683C>T (p.Gln895Ter)
c.*1856C>T (n.*1856C>T)
c.*698C>T (n.*698C>T)
c.*2280C>T (n.*2280C>T)
c.2002C>T (p.Gln668Ter)
c.2617C>T (p.Gln873Ter)
c.*1973C>T (n.*1973C>T)
n.2815C>T
c.2620C>T (p.Gln874Ter)
c.1123C>T (p.Gln375Ter)
c.748C>T (p.Gln250Ter)
c.2554C>T (p.Gln852Ter)
c.820C>T (p.Gln274Ter)
c.616C>T (p.Gln206Ter)
n.2738C>T
2g.27459482G>CCA346382367IFT172c.2683C>G (p.Gln895Glu)
c.*1856C>G (n.*1856C>G)
c.*698C>G (n.*698C>G)
c.*2280C>G (n.*2280C>G)
c.2002C>G (p.Gln668Glu)
c.2617C>G (p.Gln873Glu)
c.*1973C>G (n.*1973C>G)
n.2815C>G
c.2620C>G (p.Gln874Glu)
c.1123C>G (p.Gln375Glu)
c.748C>G (p.Gln250Glu)
c.2554C>G (p.Gln852Glu)
c.820C>G (p.Gln274Glu)
c.616C>G (p.Gln206Glu)
n.2738C>G
2g.27459482G>TCA346382368IFT172c.2683C>A (p.Gln895Lys)
c.*1856C>A (n.*1856C>A)
c.*698C>A (n.*698C>A)
c.*2280C>A (n.*2280C>A)
c.2002C>A (p.Gln668Lys)
c.2617C>A (p.Gln873Lys)
c.*1973C>A (n.*1973C>A)
n.2815C>A
c.2620C>A (p.Gln874Lys)
c.1123C>A (p.Gln375Lys)
c.748C>A (p.Gln250Lys)
c.2554C>A (p.Gln852Lys)
c.820C>A (p.Gln274Lys)
c.616C>A (p.Gln206Lys)
n.2738C>A
2g.27459483G>ACA425405357IFT172c.2682C>T (p.Arg894=)
c.*1855C>T (n.*1855C>T)
c.*697C>T (n.*697C>T)
c.*2279C>T (n.*2279C>T)
c.2001C>T (p.Arg667=)
c.2616C>T (p.Arg872=)
c.*1972C>T (n.*1972C>T)
n.2814C>T
c.2619C>T (p.Arg873=)
c.1122C>T (p.Arg374=)
c.747C>T (p.Arg249=)
c.2553C>T (p.Arg851=)
c.819C>T (p.Arg273=)
c.615C>T (p.Arg205=)
n.2737C>T
 dbSNP
2g.27459483G>CCA425405360IFT172c.2682C>G (p.Arg894=)
c.*1855C>G (n.*1855C>G)
c.*697C>G (n.*697C>G)
c.*2279C>G (n.*2279C>G)
c.2001C>G (p.Arg667=)
c.2616C>G (p.Arg872=)
c.*1972C>G (n.*1972C>G)
n.2814C>G
c.2619C>G (p.Arg873=)
c.1122C>G (p.Arg374=)
c.747C>G (p.Arg249=)
c.2553C>G (p.Arg851=)
c.819C>G (p.Arg273=)
c.615C>G (p.Arg205=)
n.2737C>G
2g.27459483G=CA1240289099IFT172c.2682C= (p.Arg894=)
c.*1855C= (n.*1855C=)
c.*697C= (n.*697C=)
c.*2279C= (n.*2279C=)
c.2001C= (p.Arg667=)
c.2616C= (p.Arg872=)
c.*1972C= (n.*1972C=)
n.2814C=
c.2619C= (p.Arg873=)
c.1122C= (p.Arg374=)
c.747C= (p.Arg249=)
c.2553C= (p.Arg851=)
c.819C= (p.Arg273=)
c.615C= (p.Arg205=)
n.2737C=
2g.27459483G>TCA425405358IFT172c.2682C>A (p.Arg894=)
c.*1855C>A (n.*1855C>A)
c.*697C>A (n.*697C>A)
c.*2279C>A (n.*2279C>A)
c.2001C>A (p.Arg667=)
c.2616C>A (p.Arg872=)
c.*1972C>A (n.*1972C>A)
n.2814C>A
c.2619C>A (p.Arg873=)
c.1122C>A (p.Arg374=)
c.747C>A (p.Arg249=)
c.2553C>A (p.Arg851=)
c.819C>A (p.Arg273=)
c.615C>A (p.Arg205=)
n.2737C>A
2g.27459484C>ACA346382369IFT172c.2681G>T (p.Arg894Leu)
c.*1854G>T (n.*1854G>T)
c.*696G>T (n.*696G>T)
c.*2278G>T (n.*2278G>T)
c.2000G>T (p.Arg667Leu)
c.2615G>T (p.Arg872Leu)
c.*1971G>T (n.*1971G>T)
n.2813G>T
c.2618G>T (p.Arg873Leu)
c.1121G>T (p.Arg374Leu)
c.746G>T (p.Arg249Leu)
c.2552G>T (p.Arg851Leu)
c.818G>T (p.Arg273Leu)
c.614G>T (p.Arg205Leu)
n.2736G>T
 gnomAD v4
2g.27459484C=CA1240289100IFT172c.2681G= (p.Arg894=)
c.*1854G= (n.*1854G=)
c.*696G= (n.*696G=)
c.*2278G= (n.*2278G=)
c.2000G= (p.Arg667=)
c.2615G= (p.Arg872=)
c.*1971G= (n.*1971G=)
n.2813G=
c.2618G= (p.Arg873=)
c.1121G= (p.Arg374=)
c.746G= (p.Arg249=)
c.2552G= (p.Arg851=)
c.818G= (p.Arg273=)
c.614G= (p.Arg205=)
n.2736G=
2g.27459484C>GCA346382370IFT172c.2681G>C (p.Arg894Pro)
c.*1854G>C (n.*1854G>C)
c.*696G>C (n.*696G>C)
c.*2278G>C (n.*2278G>C)
c.2000G>C (p.Arg667Pro)
c.2615G>C (p.Arg872Pro)
c.*1971G>C (n.*1971G>C)
n.2813G>C
c.2618G>C (p.Arg873Pro)
c.1121G>C (p.Arg374Pro)
c.746G>C (p.Arg249Pro)
c.2552G>C (p.Arg851Pro)
c.818G>C (p.Arg273Pro)
c.614G>C (p.Arg205Pro)
n.2736G>C
2g.27459484C>TCA44494796IFT172c.2681G>A (p.Arg894His)
c.*1854G>A (n.*1854G>A)
c.*696G>A (n.*696G>A)
c.*2278G>A (n.*2278G>A)
c.2000G>A (p.Arg667His)
c.2615G>A (p.Arg872His)
c.*1971G>A (n.*1971G>A)
n.2813G>A
c.2618G>A (p.Arg873His)
c.1121G>A (p.Arg374His)
c.746G>A (p.Arg249His)
c.2552G>A (p.Arg851His)
c.818G>A (p.Arg273His)
c.614G>A (p.Arg205His)
n.2736G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27459484_27459493delinsCGGGCACCCACA1240289101IFT172c.2672_2681delinsTGGGTGCCCG (p.Leu891=)
c.*1845_*1854delinsTGGGTGCCCG (n.*1845_*1854delinsTGGGTGCCCG)
c.*687_*696delinsTGGGTGCCCG (n.*687_*696delinsTGGGTGCCCG)
c.*2269_*2278delinsTGGGTGCCCG (n.*2269_*2278delinsTGGGTGCCCG)
c.1991_2000delinsTGGGTGCCCG (p.Leu664=)
c.2606_2615delinsTGGGTGCCCG (p.Leu869=)
c.*1962_*1971delinsTGGGTGCCCG (n.*1962_*1971delinsTGGGTGCCCG)
n.2804_2813delinsTGGGTGCCCG
c.2609_2618delinsTGGGTGCCCG (p.Leu870=)
c.1112_1121delinsTGGGTGCCCG (p.Leu371=)
c.737_746delinsTGGGTGCCCG (p.Leu246=)
c.2543_2552delinsTGGGTGCCCG (p.Leu848=)
c.809_818delinsTGGGTGCCCG (p.Leu270=)
c.605_614delinsTGGGTGCCCG (p.Leu202=)
n.2727_2736delinsTGGGTGCCCG
2g.27459485G>ACA1580213IFT172c.2680C>T (p.Arg894Cys)
c.*1853C>T (n.*1853C>T)
c.*695C>T (n.*695C>T)
c.*2277C>T (n.*2277C>T)
c.1999C>T (p.Arg667Cys)
c.2614C>T (p.Arg872Cys)
c.*1970C>T (n.*1970C>T)
n.2812C>T
c.2617C>T (p.Arg873Cys)
c.1120C>T (p.Arg374Cys)
c.745C>T (p.Arg249Cys)
c.2551C>T (p.Arg851Cys)
c.817C>T (p.Arg273Cys)
c.613C>T (p.Arg205Cys)
n.2735C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27459485G>CCA346382373IFT172c.2680C>G (p.Arg894Gly)
c.*1853C>G (n.*1853C>G)
c.*695C>G (n.*695C>G)
c.*2277C>G (n.*2277C>G)
c.1999C>G (p.Arg667Gly)
c.2614C>G (p.Arg872Gly)
c.*1970C>G (n.*1970C>G)
n.2812C>G
c.2617C>G (p.Arg873Gly)
c.1120C>G (p.Arg374Gly)
c.745C>G (p.Arg249Gly)
c.2551C>G (p.Arg851Gly)
c.817C>G (p.Arg273Gly)
c.613C>G (p.Arg205Gly)
n.2735C>G
2g.27459485G=CA1240289102IFT172c.2680C= (p.Arg894=)
c.*1853C= (n.*1853C=)
c.*695C= (n.*695C=)
c.*2277C= (n.*2277C=)
c.1999C= (p.Arg667=)
c.2614C= (p.Arg872=)
c.*1970C= (n.*1970C=)
n.2812C=
c.2617C= (p.Arg873=)
c.1120C= (p.Arg374=)
c.745C= (p.Arg249=)
c.2551C= (p.Arg851=)
c.817C= (p.Arg273=)
c.613C= (p.Arg205=)
n.2735C=
2g.27459485G>TCA346382372IFT172c.2680C>A (p.Arg894Ser)
c.*1853C>A (n.*1853C>A)
c.*695C>A (n.*695C>A)
c.*2277C>A (n.*2277C>A)
c.1999C>A (p.Arg667Ser)
c.2614C>A (p.Arg872Ser)
c.*1970C>A (n.*1970C>A)
n.2812C>A
c.2617C>A (p.Arg873Ser)
c.1120C>A (p.Arg374Ser)
c.745C>A (p.Arg249Ser)
c.2551C>A (p.Arg851Ser)
c.817C>A (p.Arg273Ser)
c.613C>A (p.Arg205Ser)
n.2735C>A
2g.27459489_27459497delCA346382371IFT172c.2672_2680del (p.Leu891_Ala893del)
c.*1845_*1853del (n.*1845_*1853del)
c.*687_*695del (n.*687_*695del)
c.*2269_*2277del (n.*2269_*2277del)
c.1991_1999del (p.Leu664_Ala666del)
c.2606_2614del (p.Leu869_Ala871del)
c.*1962_*1970del (n.*1962_*1970del)
n.2804_2812del
c.2609_2617del (p.Leu870_Ala872del)
c.1112_1120del (p.Leu371_Ala373del)
c.737_745del (p.Leu246_Ala248del)
c.2543_2551del (p.Leu848_Ala850del)
c.809_817del (p.Leu270_Ala272del)
c.605_613del (p.Leu202_Ala204del)
n.2727_2735del
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.27459486G>ACA425405370IFT172c.2679C>T (p.Ala893=)
c.*1852C>T (n.*1852C>T)
c.*694C>T (n.*694C>T)
c.*2276C>T (n.*2276C>T)
c.1998C>T (p.Ala666=)
c.2613C>T (p.Ala871=)
c.*1969C>T (n.*1969C>T)
n.2811C>T
c.2616C>T (p.Ala872=)
c.1119C>T (p.Ala373=)
c.744C>T (p.Ala248=)
c.2550C>T (p.Ala850=)
c.816C>T (p.Ala272=)
c.612C>T (p.Ala204=)
n.2734C>T
2g.27459486G>CCA425405372IFT172c.2679C>G (p.Ala893=)
c.*1852C>G (n.*1852C>G)
c.*694C>G (n.*694C>G)
c.*2276C>G (n.*2276C>G)
c.1998C>G (p.Ala666=)
c.2613C>G (p.Ala871=)
c.*1969C>G (n.*1969C>G)
n.2811C>G
c.2616C>G (p.Ala872=)
c.1119C>G (p.Ala373=)
c.744C>G (p.Ala248=)
c.2550C>G (p.Ala850=)
c.816C>G (p.Ala272=)
c.612C>G (p.Ala204=)
n.2734C>G
2g.27459486G>TCA425405373IFT172c.2679C>A (p.Ala893=)
c.*1852C>A (n.*1852C>A)
c.*694C>A (n.*694C>A)
c.*2276C>A (n.*2276C>A)
c.1998C>A (p.Ala666=)
c.2613C>A (p.Ala871=)
c.*1969C>A (n.*1969C>A)
n.2811C>A
c.2616C>A (p.Ala872=)
c.1119C>A (p.Ala373=)
c.744C>A (p.Ala248=)
c.2550C>A (p.Ala850=)
c.816C>A (p.Ala272=)
c.612C>A (p.Ala204=)
n.2734C>A
2g.27459487G>ACA1580214IFT172c.2678C>T (p.Ala893Val)
c.*1851C>T (n.*1851C>T)
c.*693C>T (n.*693C>T)
c.*2275C>T (n.*2275C>T)
c.1997C>T (p.Ala666Val)
c.2612C>T (p.Ala871Val)
c.*1968C>T (n.*1968C>T)
n.2810C>T
c.2615C>T (p.Ala872Val)
c.1118C>T (p.Ala373Val)
c.743C>T (p.Ala248Val)
c.2549C>T (p.Ala850Val)
c.815C>T (p.Ala272Val)
c.611C>T (p.Ala204Val)
n.2733C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27459487G>CCA346382374IFT172c.2678C>G (p.Ala893Gly)
c.*1851C>G (n.*1851C>G)
c.*693C>G (n.*693C>G)
c.*2275C>G (n.*2275C>G)
c.1997C>G (p.Ala666Gly)
c.2612C>G (p.Ala871Gly)
c.*1968C>G (n.*1968C>G)
n.2810C>G
c.2615C>G (p.Ala872Gly)
c.1118C>G (p.Ala373Gly)
c.743C>G (p.Ala248Gly)
c.2549C>G (p.Ala850Gly)
c.815C>G (p.Ala272Gly)
c.611C>G (p.Ala204Gly)
n.2733C>G
 dbSNP gnomAD v4
2g.27459487G=CA1240289103IFT172c.2678C= (p.Ala893=)
c.*1851C= (n.*1851C=)
c.*693C= (n.*693C=)
c.*2275C= (n.*2275C=)
c.1997C= (p.Ala666=)
c.2612C= (p.Ala871=)
c.*1968C= (n.*1968C=)
n.2810C=
c.2615C= (p.Ala872=)
c.1118C= (p.Ala373=)
c.743C= (p.Ala248=)
c.2549C= (p.Ala850=)
c.815C= (p.Ala272=)
c.611C= (p.Ala204=)
n.2733C=
2g.27459487G>TCA346382375IFT172c.2678C>A (p.Ala893Asp)
c.*1851C>A (n.*1851C>A)
c.*693C>A (n.*693C>A)
c.*2275C>A (n.*2275C>A)
c.1997C>A (p.Ala666Asp)
c.2612C>A (p.Ala871Asp)
c.*1968C>A (n.*1968C>A)
n.2810C>A
c.2615C>A (p.Ala872Asp)
c.1118C>A (p.Ala373Asp)
c.743C>A (p.Ala248Asp)
c.2549C>A (p.Ala850Asp)
c.815C>A (p.Ala272Asp)
c.611C>A (p.Ala204Asp)
n.2733C>A
2g.27459488C>ACA346382376IFT172c.2677G>T (p.Ala893Ser)
c.*1850G>T (n.*1850G>T)
c.*692G>T (n.*692G>T)
c.*2274G>T (n.*2274G>T)
c.1996G>T (p.Ala666Ser)
c.2611G>T (p.Ala871Ser)
c.*1967G>T (n.*1967G>T)
n.2809G>T
c.2614G>T (p.Ala872Ser)
c.1117G>T (p.Ala373Ser)
c.742G>T (p.Ala248Ser)
c.2548G>T (p.Ala850Ser)
c.814G>T (p.Ala272Ser)
c.610G>T (p.Ala204Ser)
n.2732G>T
2g.27459488C=CA1240289104IFT172c.2677G= (p.Ala893=)
c.*1850G= (n.*1850G=)
c.*692G= (n.*692G=)
c.*2274G= (n.*2274G=)
c.1996G= (p.Ala666=)
c.2611G= (p.Ala871=)
c.*1967G= (n.*1967G=)
n.2809G=
c.2614G= (p.Ala872=)
c.1117G= (p.Ala373=)
c.742G= (p.Ala248=)
c.2548G= (p.Ala850=)
c.814G= (p.Ala272=)
c.610G= (p.Ala204=)
n.2732G=
2g.27459488C>GCA346382377IFT172c.2677G>C (p.Ala893Pro)
c.*1850G>C (n.*1850G>C)
c.*692G>C (n.*692G>C)
c.*2274G>C (n.*2274G>C)
c.1996G>C (p.Ala666Pro)
c.2611G>C (p.Ala871Pro)
c.*1967G>C (n.*1967G>C)
n.2809G>C
c.2614G>C (p.Ala872Pro)
c.1117G>C (p.Ala373Pro)
c.742G>C (p.Ala248Pro)
c.2548G>C (p.Ala850Pro)
c.814G>C (p.Ala272Pro)
c.610G>C (p.Ala204Pro)
n.2732G>C
 dbSNP
2g.27459488C>TCA346382378IFT172c.2677G>A (p.Ala893Thr)
c.*1850G>A (n.*1850G>A)
c.*692G>A (n.*692G>A)
c.*2274G>A (n.*2274G>A)
c.1996G>A (p.Ala666Thr)
c.2611G>A (p.Ala871Thr)
c.*1967G>A (n.*1967G>A)
n.2809G>A
c.2614G>A (p.Ala872Thr)
c.1117G>A (p.Ala373Thr)
c.742G>A (p.Ala248Thr)
c.2548G>A (p.Ala850Thr)
c.814G>A (p.Ala272Thr)
c.610G>A (p.Ala204Thr)
n.2732G>A
 dbSNP gnomAD v4
2g.27459488_27459501delCA2545190779IFT172c.2664_2677del (p.Glu888AspfsTer?)
c.*1837_*1850del (n.*1837_*1850del)
c.*679_*692del (n.*679_*692del)
c.*2261_*2274del (n.*2261_*2274del)
c.1983_1996del (p.Glu661AspfsTer?)
c.2598_2611del (p.Glu866AspfsTer?)
c.*1954_*1967del (n.*1954_*1967del)
n.2796_2809del
c.2601_2614del (p.Glu867AspfsTer?)
c.1104_1117del (p.Glu368AspfsTer?)
c.729_742del (p.Glu243AspfsTer?)
c.2535_2548del (p.Glu845AspfsTer?)
c.801_814del (p.Glu267AspfsTer?)
c.597_610del (p.Glu199AspfsTer?)
n.2719_2732del
2g.27459489A>CCA425405387IFT172c.2676T>G (p.Gly892=)
c.*1849T>G (n.*1849T>G)
c.*691T>G (n.*691T>G)
c.*2273T>G (n.*2273T>G)
c.1995T>G (p.Gly665=)
c.2610T>G (p.Gly870=)
c.*1966T>G (n.*1966T>G)
n.2808T>G
c.2613T>G (p.Gly871=)
c.1116T>G (p.Gly372=)
c.741T>G (p.Gly247=)
c.2547T>G (p.Gly849=)
c.813T>G (p.Gly271=)
c.609T>G (p.Gly203=)
n.2731T>G
2g.27459489A>GCA425405390IFT172c.2676T>C (p.Gly892=)
c.*1849T>C (n.*1849T>C)
c.*691T>C (n.*691T>C)
c.*2273T>C (n.*2273T>C)
c.1995T>C (p.Gly665=)
c.2610T>C (p.Gly870=)
c.*1966T>C (n.*1966T>C)
n.2808T>C
c.2613T>C (p.Gly871=)
c.1116T>C (p.Gly372=)
c.741T>C (p.Gly247=)
c.2547T>C (p.Gly849=)
c.813T>C (p.Gly271=)
c.609T>C (p.Gly203=)
n.2731T>C
2g.27459489A>TCA425405394IFT172c.2676T>A (p.Gly892=)
c.*1849T>A (n.*1849T>A)
c.*691T>A (n.*691T>A)
c.*2273T>A (n.*2273T>A)
c.1995T>A (p.Gly665=)
c.2610T>A (p.Gly870=)
c.*1966T>A (n.*1966T>A)
n.2808T>A
c.2613T>A (p.Gly871=)
c.1116T>A (p.Gly372=)
c.741T>A (p.Gly247=)
c.2547T>A (p.Gly849=)
c.813T>A (p.Gly271=)
c.609T>A (p.Gly203=)
n.2731T>A
2g.27459490C>ACA346382379IFT172c.2675G>T (p.Gly892Val)
c.*1848G>T (n.*1848G>T)
c.*690G>T (n.*690G>T)
c.*2272G>T (n.*2272G>T)
c.1994G>T (p.Gly665Val)
c.2609G>T (p.Gly870Val)
c.*1965G>T (n.*1965G>T)
n.2807G>T
c.2612G>T (p.Gly871Val)
c.1115G>T (p.Gly372Val)
c.740G>T (p.Gly247Val)
c.2546G>T (p.Gly849Val)
c.812G>T (p.Gly271Val)
c.608G>T (p.Gly203Val)
n.2730G>T
 gnomAD v4
2g.27459490C=CA1240289105IFT172c.2675G= (p.Gly892=)
c.*1848G= (n.*1848G=)
c.*690G= (n.*690G=)
c.*2272G= (n.*2272G=)
c.1994G= (p.Gly665=)
c.2609G= (p.Gly870=)
c.*1965G= (n.*1965G=)
n.2807G=
c.2612G= (p.Gly871=)
c.1115G= (p.Gly372=)
c.740G= (p.Gly247=)
c.2546G= (p.Gly849=)
c.812G= (p.Gly271=)
c.608G= (p.Gly203=)
n.2730G=
2g.27459490C>GCA346382380IFT172c.2675G>C (p.Gly892Ala)
c.*1848G>C (n.*1848G>C)
c.*690G>C (n.*690G>C)
c.*2272G>C (n.*2272G>C)
c.1994G>C (p.Gly665Ala)
c.2609G>C (p.Gly870Ala)
c.*1965G>C (n.*1965G>C)
n.2807G>C
c.2612G>C (p.Gly871Ala)
c.1115G>C (p.Gly372Ala)
c.740G>C (p.Gly247Ala)
c.2546G>C (p.Gly849Ala)
c.812G>C (p.Gly271Ala)
c.608G>C (p.Gly203Ala)
n.2730G>C
2g.27459490C>TCA346382381IFT172c.2675G>A (p.Gly892Asp)
c.*1848G>A (n.*1848G>A)
c.*690G>A (n.*690G>A)
c.*2272G>A (n.*2272G>A)
c.1994G>A (p.Gly665Asp)
c.2609G>A (p.Gly870Asp)
c.*1965G>A (n.*1965G>A)
n.2807G>A
c.2612G>A (p.Gly871Asp)
c.1115G>A (p.Gly372Asp)
c.740G>A (p.Gly247Asp)
c.2546G>A (p.Gly849Asp)
c.812G>A (p.Gly271Asp)
c.608G>A (p.Gly203Asp)
n.2730G>A
 dbSNP gnomAD v4
2g.27459491C>ACA346382382IFT172c.2674G>T (p.Gly892Cys)
c.*1847G>T (n.*1847G>T)
c.*689G>T (n.*689G>T)
c.*2271G>T (n.*2271G>T)
c.1993G>T (p.Gly665Cys)
c.2608G>T (p.Gly870Cys)
c.*1964G>T (n.*1964G>T)
n.2806G>T
c.2611G>T (p.Gly871Cys)
c.1114G>T (p.Gly372Cys)
c.739G>T (p.Gly247Cys)
c.2545G>T (p.Gly849Cys)
c.811G>T (p.Gly271Cys)
c.607G>T (p.Gly203Cys)
n.2729G>T
2g.27459491C>GCA346382383IFT172c.2674G>C (p.Gly892Arg)
c.*1847G>C (n.*1847G>C)
c.*689G>C (n.*689G>C)
c.*2271G>C (n.*2271G>C)
c.1993G>C (p.Gly665Arg)
c.2608G>C (p.Gly870Arg)
c.*1964G>C (n.*1964G>C)
n.2806G>C
c.2611G>C (p.Gly871Arg)
c.1114G>C (p.Gly372Arg)
c.739G>C (p.Gly247Arg)
c.2545G>C (p.Gly849Arg)
c.811G>C (p.Gly271Arg)
c.607G>C (p.Gly203Arg)
n.2729G>C
2g.27459491C>TCA346382384IFT172c.2674G>A (p.Gly892Ser)
c.*1847G>A (n.*1847G>A)
c.*689G>A (n.*689G>A)
c.*2271G>A (n.*2271G>A)
c.1993G>A (p.Gly665Ser)
c.2608G>A (p.Gly870Ser)
c.*1964G>A (n.*1964G>A)
n.2806G>A
c.2611G>A (p.Gly871Ser)
c.1114G>A (p.Gly372Ser)
c.739G>A (p.Gly247Ser)
c.2545G>A (p.Gly849Ser)
c.811G>A (p.Gly271Ser)
c.607G>A (p.Gly203Ser)
n.2729G>A
 ClinVar
2g.27459492C>ACA425405418IFT172c.2673G>T (p.Leu891=)
c.*1846G>T (n.*1846G>T)
c.*688G>T (n.*688G>T)
c.*2270G>T (n.*2270G>T)
c.1992G>T (p.Leu664=)
c.2607G>T (p.Leu869=)
c.*1963G>T (n.*1963G>T)
n.2805G>T
c.2610G>T (p.Leu870=)
c.1113G>T (p.Leu371=)
c.738G>T (p.Leu246=)
c.2544G>T (p.Leu848=)
c.810G>T (p.Leu270=)
c.606G>T (p.Leu202=)
n.2728G>T
2g.27459492C>GCA425405415IFT172c.2673G>C (p.Leu891=)
c.*1846G>C (n.*1846G>C)
c.*688G>C (n.*688G>C)
c.*2270G>C (n.*2270G>C)
c.1992G>C (p.Leu664=)
c.2607G>C (p.Leu869=)
c.*1963G>C (n.*1963G>C)
n.2805G>C
c.2610G>C (p.Leu870=)
c.1113G>C (p.Leu371=)
c.738G>C (p.Leu246=)
c.2544G>C (p.Leu848=)
c.810G>C (p.Leu270=)
c.606G>C (p.Leu202=)
n.2728G>C
2g.27459492C>TCA425405413IFT172c.2673G>A (p.Leu891=)
c.*1846G>A (n.*1846G>A)
c.*688G>A (n.*688G>A)
c.*2270G>A (n.*2270G>A)
c.1992G>A (p.Leu664=)
c.2607G>A (p.Leu869=)
c.*1963G>A (n.*1963G>A)
n.2805G>A
c.2610G>A (p.Leu870=)
c.1113G>A (p.Leu371=)
c.738G>A (p.Leu246=)
c.2544G>A (p.Leu848=)
c.810G>A (p.Leu270=)
c.606G>A (p.Leu202=)
n.2728G>A
2g.27459493A=CA1240289106IFT172c.2672T= (p.Leu891=)
c.*1845T= (n.*1845T=)
c.*687T= (n.*687T=)
c.*2269T= (n.*2269T=)
c.1991T= (p.Leu664=)
c.2606T= (p.Leu869=)
c.*1962T= (n.*1962T=)
n.2804T=
c.2609T= (p.Leu870=)
c.1112T= (p.Leu371=)
c.737T= (p.Leu246=)
c.2543T= (p.Leu848=)
c.809T= (p.Leu270=)
c.605T= (p.Leu202=)
n.2727T=
2g.27459493A>CCA346382387IFT172c.2672T>G (p.Leu891Arg)
c.*1845T>G (n.*1845T>G)
c.*687T>G (n.*687T>G)
c.*2269T>G (n.*2269T>G)
c.1991T>G (p.Leu664Arg)
c.2606T>G (p.Leu869Arg)
c.*1962T>G (n.*1962T>G)
n.2804T>G
c.2609T>G (p.Leu870Arg)
c.1112T>G (p.Leu371Arg)
c.737T>G (p.Leu246Arg)
c.2543T>G (p.Leu848Arg)
c.809T>G (p.Leu270Arg)
c.605T>G (p.Leu202Arg)
n.2727T>G
 dbSNP
2g.27459493A>GCA346382386IFT172c.2672T>C (p.Leu891Pro)
c.*1845T>C (n.*1845T>C)
c.*687T>C (n.*687T>C)
c.*2269T>C (n.*2269T>C)
c.1991T>C (p.Leu664Pro)
c.2606T>C (p.Leu869Pro)
c.*1962T>C (n.*1962T>C)
n.2804T>C
c.2609T>C (p.Leu870Pro)
c.1112T>C (p.Leu371Pro)
c.737T>C (p.Leu246Pro)
c.2543T>C (p.Leu848Pro)
c.809T>C (p.Leu270Pro)
c.605T>C (p.Leu202Pro)
n.2727T>C
2g.27459493A>TCA346382385IFT172c.2672T>A (p.Leu891Gln)
c.*1845T>A (n.*1845T>A)
c.*687T>A (n.*687T>A)
c.*2269T>A (n.*2269T>A)
c.1991T>A (p.Leu664Gln)
c.2606T>A (p.Leu869Gln)
c.*1962T>A (n.*1962T>A)
n.2804T>A
c.2609T>A (p.Leu870Gln)
c.1112T>A (p.Leu371Gln)
c.737T>A (p.Leu246Gln)
c.2543T>A (p.Leu848Gln)
c.809T>A (p.Leu270Gln)
c.605T>A (p.Leu202Gln)
n.2727T>A
2g.27459493_27459494delinsAGCA1240289107IFT172c.2671_2672delinsCT (p.Leu891=)
c.*1844_*1845delinsCT (n.*1844_*1845delinsCT)
c.*686_*687delinsCT (n.*686_*687delinsCT)
c.*2268_*2269delinsCT (n.*2268_*2269delinsCT)
c.1990_1991delinsCT (p.Leu664=)
c.2605_2606delinsCT (p.Leu869=)
c.*1961_*1962delinsCT (n.*1961_*1962delinsCT)
n.2803_2804delinsCT
c.2608_2609delinsCT (p.Leu870=)
c.1111_1112delinsCT (p.Leu371=)
c.736_737delinsCT (p.Leu246=)
c.2542_2543delinsCT (p.Leu848=)
c.808_809delinsCT (p.Leu270=)
c.604_605delinsCT (p.Leu202=)
n.2726_2727delinsCT
2g.27459494G>ACA425405425IFT172c.2671C>T (p.Leu891=)
c.*1844C>T (n.*1844C>T)
c.*686C>T (n.*686C>T)
c.*2268C>T (n.*2268C>T)
c.1990C>T (p.Leu664=)
c.2605C>T (p.Leu869=)
c.*1961C>T (n.*1961C>T)
n.2803C>T
c.2608C>T (p.Leu870=)
c.1111C>T (p.Leu371=)
c.736C>T (p.Leu246=)
c.2542C>T (p.Leu848=)
c.808C>T (p.Leu270=)
c.604C>T (p.Leu202=)
n.2726C>T
 gnomAD v4
2g.27459494G>CCA346382388IFT172c.2671C>G (p.Leu891Val)
c.*1844C>G (n.*1844C>G)
c.*686C>G (n.*686C>G)
c.*2268C>G (n.*2268C>G)
c.1990C>G (p.Leu664Val)
c.2605C>G (p.Leu869Val)
c.*1961C>G (n.*1961C>G)
n.2803C>G
c.2608C>G (p.Leu870Val)
c.1111C>G (p.Leu371Val)
c.736C>G (p.Leu246Val)
c.2542C>G (p.Leu848Val)
c.808C>G (p.Leu270Val)
c.604C>G (p.Leu202Val)
n.2726C>G
2g.27459494G>TCA346382389IFT172c.2671C>A (p.Leu891Met)
c.*1844C>A (n.*1844C>A)
c.*686C>A (n.*686C>A)
c.*2268C>A (n.*2268C>A)
c.1990C>A (p.Leu664Met)
c.2605C>A (p.Leu869Met)
c.*1961C>A (n.*1961C>A)
n.2803C>A
c.2608C>A (p.Leu870Met)
c.1111C>A (p.Leu371Met)
c.736C>A (p.Leu246Met)
c.2542C>A (p.Leu848Met)
c.808C>A (p.Leu270Met)
c.604C>A (p.Leu202Met)
n.2726C>A
2g.27459496delCA1580215IFT172c.2671del (p.Leu891TrpfsTer13)
c.*1844del (n.*1844del)
c.*686del (n.*686del)
c.*2268del (n.*2268del)
c.1990del (p.Leu664TrpfsTer13)
c.2605del (p.Leu869TrpfsTer13)
c.*1961del (n.*1961del)
n.2803del
c.2608del (p.Leu870TrpfsTer13)
c.1111del (p.Leu371TrpfsTer13)
c.736del (p.Leu246TrpfsTer13)
c.2542del (p.Leu848TrpfsTer13)
c.808del (p.Leu270TrpfsTer13)
c.604del (p.Leu202TrpfsTer13)
n.2726del
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27459495G>ACA1580216IFT172c.2670C>T (p.Ala890=)
c.*1843C>T (n.*1843C>T)
c.*685C>T (n.*685C>T)
c.*2267C>T (n.*2267C>T)
c.1989C>T (p.Ala663=)
c.2604C>T (p.Ala868=)
c.*1960C>T (n.*1960C>T)
n.2802C>T
c.2607C>T (p.Ala869=)
c.1110C>T (p.Ala370=)
c.735C>T (p.Ala245=)
c.2541C>T (p.Ala847=)
c.807C>T (p.Ala269=)
c.603C>T (p.Ala201=)
n.2725C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27459495G>CCA425405427IFT172c.2670C>G (p.Ala890=)
c.*1843C>G (n.*1843C>G)
c.*685C>G (n.*685C>G)
c.*2267C>G (n.*2267C>G)
c.1989C>G (p.Ala663=)
c.2604C>G (p.Ala868=)
c.*1960C>G (n.*1960C>G)
n.2802C>G
c.2607C>G (p.Ala869=)
c.1110C>G (p.Ala370=)
c.735C>G (p.Ala245=)
c.2541C>G (p.Ala847=)
c.807C>G (p.Ala269=)
c.603C>G (p.Ala201=)
n.2725C>G
2g.27459495G=CA1240289108IFT172c.2670C= (p.Ala890=)
c.*1843C= (n.*1843C=)
c.*685C= (n.*685C=)
c.*2267C= (n.*2267C=)
c.1989C= (p.Ala663=)
c.2604C= (p.Ala868=)
c.*1960C= (n.*1960C=)
n.2802C=
c.2607C= (p.Ala869=)
c.1110C= (p.Ala370=)
c.735C= (p.Ala245=)
c.2541C= (p.Ala847=)
c.807C= (p.Ala269=)
c.603C= (p.Ala201=)
n.2725C=
2g.27459495G>TCA425405433IFT172c.2670C>A (p.Ala890=)
c.*1843C>A (n.*1843C>A)
c.*685C>A (n.*685C>A)
c.*2267C>A (n.*2267C>A)
c.1989C>A (p.Ala663=)
c.2604C>A (p.Ala868=)
c.*1960C>A (n.*1960C>A)
n.2802C>A
c.2607C>A (p.Ala869=)
c.1110C>A (p.Ala370=)
c.735C>A (p.Ala245=)
c.2541C>A (p.Ala847=)
c.807C>A (p.Ala269=)
c.603C>A (p.Ala201=)
n.2725C>A
2g.27459495_27459511delCA2749270048IFT172c.2654_2670del (p.Lys885ThrfsTer?)
c.*1827_*1843del (n.*1827_*1843del)
c.*669_*685del (n.*669_*685del)
c.*2251_*2267del (n.*2251_*2267del)
c.1973_1989del (p.Lys658ThrfsTer?)
c.2588_2604del (p.Lys863ThrfsTer?)
c.*1944_*1960del (n.*1944_*1960del)
n.2786_2802del
c.2591_2607del (p.Lys864ThrfsTer?)
c.1094_1110del (p.Lys365ThrfsTer?)
c.719_735del (p.Lys240ThrfsTer?)
c.2525_2541del (p.Lys842ThrfsTer?)
c.791_807del (p.Lys264ThrfsTer?)
c.587_603del (p.Lys196ThrfsTer?)
n.2709_2725del
2g.27459496G>ACA346382390IFT172c.2669C>T (p.Ala890Val)
c.*1842C>T (n.*1842C>T)
c.*684C>T (n.*684C>T)
c.*2266C>T (n.*2266C>T)
c.1988C>T (p.Ala663Val)
c.2603C>T (p.Ala868Val)
c.*1959C>T (n.*1959C>T)
n.2801C>T
c.2606C>T (p.Ala869Val)
c.1109C>T (p.Ala370Val)
c.734C>T (p.Ala245Val)
c.2540C>T (p.Ala847Val)
c.806C>T (p.Ala269Val)
c.602C>T (p.Ala201Val)
n.2724C>T
2g.27459496G>CCA346382391IFT172c.2669C>G (p.Ala890Gly)
c.*1842C>G (n.*1842C>G)
c.*684C>G (n.*684C>G)
c.*2266C>G (n.*2266C>G)
c.1988C>G (p.Ala663Gly)
c.2603C>G (p.Ala868Gly)
c.*1959C>G (n.*1959C>G)
n.2801C>G
c.2606C>G (p.Ala869Gly)
c.1109C>G (p.Ala370Gly)
c.734C>G (p.Ala245Gly)
c.2540C>G (p.Ala847Gly)
c.806C>G (p.Ala269Gly)
c.602C>G (p.Ala201Gly)
n.2724C>G
2g.27459496G>TCA346382392IFT172c.2669C>A (p.Ala890Asp)
c.*1842C>A (n.*1842C>A)
c.*684C>A (n.*684C>A)
c.*2266C>A (n.*2266C>A)
c.1988C>A (p.Ala663Asp)
c.2603C>A (p.Ala868Asp)
c.*1959C>A (n.*1959C>A)
n.2801C>A
c.2606C>A (p.Ala869Asp)
c.1109C>A (p.Ala370Asp)
c.734C>A (p.Ala245Asp)
c.2540C>A (p.Ala847Asp)
c.806C>A (p.Ala269Asp)
c.602C>A (p.Ala201Asp)
n.2724C>A
2g.27459497C>ACA346382393IFT172c.2668G>T (p.Ala890Ser)
c.*1841G>T (n.*1841G>T)
c.*683G>T (n.*683G>T)
c.*2265G>T (n.*2265G>T)
c.1987G>T (p.Ala663Ser)
c.2602G>T (p.Ala868Ser)
c.*1958G>T (n.*1958G>T)
n.2800G>T
c.2605G>T (p.Ala869Ser)
c.1108G>T (p.Ala370Ser)
c.733G>T (p.Ala245Ser)
c.2539G>T (p.Ala847Ser)
c.805G>T (p.Ala269Ser)
c.601G>T (p.Ala201Ser)
n.2723G>T
2g.27459497C=CA1240289109IFT172c.2668G= (p.Ala890=)
c.*1841G= (n.*1841G=)
c.*683G= (n.*683G=)
c.*2265G= (n.*2265G=)
c.1987G= (p.Ala663=)
c.2602G= (p.Ala868=)
c.*1958G= (n.*1958G=)
n.2800G=
c.2605G= (p.Ala869=)
c.1108G= (p.Ala370=)
c.733G= (p.Ala245=)
c.2539G= (p.Ala847=)
c.805G= (p.Ala269=)
c.601G= (p.Ala201=)
n.2723G=
2g.27459497C>GCA346382394IFT172c.2668G>C (p.Ala890Pro)
c.*1841G>C (n.*1841G>C)
c.*683G>C (n.*683G>C)
c.*2265G>C (n.*2265G>C)
c.1987G>C (p.Ala663Pro)
c.2602G>C (p.Ala868Pro)
c.*1958G>C (n.*1958G>C)
n.2800G>C
c.2605G>C (p.Ala869Pro)
c.1108G>C (p.Ala370Pro)
c.733G>C (p.Ala245Pro)
c.2539G>C (p.Ala847Pro)
c.805G>C (p.Ala269Pro)
c.601G>C (p.Ala201Pro)
n.2723G>C
2g.27459497C>TCA1580217IFT172c.2668G>A (p.Ala890Thr)
c.*1841G>A (n.*1841G>A)
c.*683G>A (n.*683G>A)
c.*2265G>A (n.*2265G>A)
c.1987G>A (p.Ala663Thr)
c.2602G>A (p.Ala868Thr)
c.*1958G>A (n.*1958G>A)
n.2800G>A
c.2605G>A (p.Ala869Thr)
c.1108G>A (p.Ala370Thr)
c.733G>A (p.Ala245Thr)
c.2539G>A (p.Ala847Thr)
c.805G>A (p.Ala269Thr)
c.601G>A (p.Ala201Thr)
n.2723G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27459498G>ACA1580218IFT172c.2667C>T (p.Ala889=)
c.*1840C>T (n.*1840C>T)
c.*682C>T (n.*682C>T)
c.*2264C>T (n.*2264C>T)
c.1986C>T (p.Ala662=)
c.2601C>T (p.Ala867=)
c.*1957C>T (n.*1957C>T)
n.2799C>T
c.2604C>T (p.Ala868=)
c.1107C>T (p.Ala369=)
c.732C>T (p.Ala244=)
c.2538C>T (p.Ala846=)
c.804C>T (p.Ala268=)
c.600C>T (p.Ala200=)
n.2722C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27459498G>CCA425405446IFT172c.2667C>G (p.Ala889=)
c.*1840C>G (n.*1840C>G)
c.*682C>G (n.*682C>G)
c.*2264C>G (n.*2264C>G)
c.1986C>G (p.Ala662=)
c.2601C>G (p.Ala867=)
c.*1957C>G (n.*1957C>G)
n.2799C>G
c.2604C>G (p.Ala868=)
c.1107C>G (p.Ala369=)
c.732C>G (p.Ala244=)
c.2538C>G (p.Ala846=)
c.804C>G (p.Ala268=)
c.600C>G (p.Ala200=)
n.2722C>G
 dbSNP
2g.27459498G=CA1240289110IFT172c.2667C= (p.Ala889=)
c.*1840C= (n.*1840C=)
c.*682C= (n.*682C=)
c.*2264C= (n.*2264C=)
c.1986C= (p.Ala662=)
c.2601C= (p.Ala867=)
c.*1957C= (n.*1957C=)
n.2799C=
c.2604C= (p.Ala868=)
c.1107C= (p.Ala369=)
c.732C= (p.Ala244=)
c.2538C= (p.Ala846=)
c.804C= (p.Ala268=)
c.600C= (p.Ala200=)
n.2722C=
2g.27459498G>TCA425405449IFT172c.2667C>A (p.Ala889=)
c.*1840C>A (n.*1840C>A)
c.*682C>A (n.*682C>A)
c.*2264C>A (n.*2264C>A)
c.1986C>A (p.Ala662=)
c.2601C>A (p.Ala867=)
c.*1957C>A (n.*1957C>A)
n.2799C>A
c.2604C>A (p.Ala868=)
c.1107C>A (p.Ala369=)
c.732C>A (p.Ala244=)
c.2538C>A (p.Ala846=)
c.804C>A (p.Ala268=)
c.600C>A (p.Ala200=)
n.2722C>A
2g.27459499G>ACA346382395IFT172c.2666C>T (p.Ala889Val)
c.*1839C>T (n.*1839C>T)
c.*681C>T (n.*681C>T)
c.*2263C>T (n.*2263C>T)
c.1985C>T (p.Ala662Val)
c.2600C>T (p.Ala867Val)
c.*1956C>T (n.*1956C>T)
n.2798C>T
c.2603C>T (p.Ala868Val)
c.1106C>T (p.Ala369Val)
c.731C>T (p.Ala244Val)
c.2537C>T (p.Ala846Val)
c.803C>T (p.Ala268Val)
c.599C>T (p.Ala200Val)
n.2721C>T
2g.27459499G>CCA346382396IFT172c.2666C>G (p.Ala889Gly)
c.*1839C>G (n.*1839C>G)
c.*681C>G (n.*681C>G)
c.*2263C>G (n.*2263C>G)
c.1985C>G (p.Ala662Gly)
c.2600C>G (p.Ala867Gly)
c.*1956C>G (n.*1956C>G)
n.2798C>G
c.2603C>G (p.Ala868Gly)
c.1106C>G (p.Ala369Gly)
c.731C>G (p.Ala244Gly)
c.2537C>G (p.Ala846Gly)
c.803C>G (p.Ala268Gly)
c.599C>G (p.Ala200Gly)
n.2721C>G
2g.27459499G>TCA346382397IFT172c.2666C>A (p.Ala889Asp)
c.*1839C>A (n.*1839C>A)
c.*681C>A (n.*681C>A)
c.*2263C>A (n.*2263C>A)
c.1985C>A (p.Ala662Asp)
c.2600C>A (p.Ala867Asp)
c.*1956C>A (n.*1956C>A)
n.2798C>A
c.2603C>A (p.Ala868Asp)
c.1106C>A (p.Ala369Asp)
c.731C>A (p.Ala244Asp)
c.2537C>A (p.Ala846Asp)
c.803C>A (p.Ala268Asp)
c.599C>A (p.Ala200Asp)
n.2721C>A
2g.27459500C>ACA44494822IFT172c.2665G>T (p.Ala889Ser)
c.*1838G>T (n.*1838G>T)
c.*680G>T (n.*680G>T)
c.*2262G>T (n.*2262G>T)
c.1984G>T (p.Ala662Ser)
c.2599G>T (p.Ala867Ser)
c.*1955G>T (n.*1955G>T)
n.2797G>T
c.2602G>T (p.Ala868Ser)
c.1105G>T (p.Ala369Ser)
c.730G>T (p.Ala244Ser)
c.2536G>T (p.Ala846Ser)
c.802G>T (p.Ala268Ser)
c.598G>T (p.Ala200Ser)
n.2720G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.27459500C=CA1240289111IFT172c.2665G= (p.Ala889=)
c.*1838G= (n.*1838G=)
c.*680G= (n.*680G=)
c.*2262G= (n.*2262G=)
c.1984G= (p.Ala662=)
c.2599G= (p.Ala867=)
c.*1955G= (n.*1955G=)
n.2797G=
c.2602G= (p.Ala868=)
c.1105G= (p.Ala369=)
c.730G= (p.Ala244=)
c.2536G= (p.Ala846=)
c.802G= (p.Ala268=)
c.598G= (p.Ala200=)
n.2720G=
2g.27459500C>GCA346382399IFT172c.2665G>C (p.Ala889Pro)
c.*1838G>C (n.*1838G>C)
c.*680G>C (n.*680G>C)
c.*2262G>C (n.*2262G>C)
c.1984G>C (p.Ala662Pro)
c.2599G>C (p.Ala867Pro)
c.*1955G>C (n.*1955G>C)
n.2797G>C
c.2602G>C (p.Ala868Pro)
c.1105G>C (p.Ala369Pro)
c.730G>C (p.Ala244Pro)
c.2536G>C (p.Ala846Pro)
c.802G>C (p.Ala268Pro)
c.598G>C (p.Ala200Pro)
n.2720G>C
 dbSNP
2g.27459500C>TCA346382398IFT172c.2665G>A (p.Ala889Thr)
c.*1838G>A (n.*1838G>A)
c.*680G>A (n.*680G>A)
c.*2262G>A (n.*2262G>A)
c.1984G>A (p.Ala662Thr)
c.2599G>A (p.Ala867Thr)
c.*1955G>A (n.*1955G>A)
n.2797G>A
c.2602G>A (p.Ala868Thr)
c.1105G>A (p.Ala369Thr)
c.730G>A (p.Ala244Thr)
c.2536G>A (p.Ala846Thr)
c.802G>A (p.Ala268Thr)
c.598G>A (p.Ala200Thr)
n.2720G>A
2g.27459501delCA2658355508IFT172c.2665del (p.Ala889ProfsTer15)
c.*1838del (n.*1838del)
c.*680del (n.*680del)
c.*2262del (n.*2262del)
c.1984del (p.Ala662ProfsTer15)
c.2599del (p.Ala867ProfsTer15)
c.*1955del (n.*1955del)
n.2797del
c.2602del (p.Ala868ProfsTer15)
c.1105del (p.Ala369ProfsTer15)
c.730del (p.Ala244ProfsTer15)
c.2536del (p.Ala846ProfsTer15)
c.802del (p.Ala268ProfsTer15)
c.598del (p.Ala200ProfsTer15)
n.2720del
 gnomAD v4
2g.27459501C>ACA346382400IFT172c.2664G>T (p.Glu888Asp)
c.*1837G>T (n.*1837G>T)
c.*679G>T (n.*679G>T)
c.*2261G>T (n.*2261G>T)
c.1983G>T (p.Glu661Asp)
c.2598G>T (p.Glu866Asp)
c.*1954G>T (n.*1954G>T)
n.2796G>T
c.2601G>T (p.Glu867Asp)
c.1104G>T (p.Glu368Asp)
c.729G>T (p.Glu243Asp)
c.2535G>T (p.Glu845Asp)
c.801G>T (p.Glu267Asp)
c.597G>T (p.Glu199Asp)
n.2719G>T
2g.27459501C>GCA346382401IFT172c.2664G>C (p.Glu888Asp)
c.*1837G>C (n.*1837G>C)
c.*679G>C (n.*679G>C)
c.*2261G>C (n.*2261G>C)
c.1983G>C (p.Glu661Asp)
c.2598G>C (p.Glu866Asp)
c.*1954G>C (n.*1954G>C)
n.2796G>C
c.2601G>C (p.Glu867Asp)
c.1104G>C (p.Glu368Asp)
c.729G>C (p.Glu243Asp)
c.2535G>C (p.Glu845Asp)
c.801G>C (p.Glu267Asp)
c.597G>C (p.Glu199Asp)
n.2719G>C
2g.27459501C>TCA425405456IFT172c.2664G>A (p.Glu888=)
c.*1837G>A (n.*1837G>A)
c.*679G>A (n.*679G>A)
c.*2261G>A (n.*2261G>A)
c.1983G>A (p.Glu661=)
c.2598G>A (p.Glu866=)
c.*1954G>A (n.*1954G>A)
n.2796G>A
c.2601G>A (p.Glu867=)
c.1104G>A (p.Glu368=)
c.729G>A (p.Glu243=)
c.2535G>A (p.Glu845=)
c.801G>A (p.Glu267=)
c.597G>A (p.Glu199=)
n.2719G>A

Number of alleles fetched