Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.1523560A=CA2201697779IFT140c.3411T= (p.Ser1137=)
c.993T= (p.Ser331=)
c.*1849T= (n.*1849T=)
n.3235T=
c.1044T= (p.Ser348=)
c.3165T= (p.Ser1055=)
c.2436T= (p.Ser812=)
c.1596T= (p.Ser532=)
16g.1523560A>CCA394225229IFT140c.3411T>G (p.Ser1137Arg)
c.993T>G (p.Ser331Arg)
c.*1849T>G (n.*1849T>G)
n.3235T>G
c.1044T>G (p.Ser348Arg)
c.3165T>G (p.Ser1055Arg)
c.2436T>G (p.Ser812Arg)
c.1596T>G (p.Ser532Arg)
dbSNP gnomAD v2 gnomAD v4
16g.1523560A>GCA493031770IFT140c.3411T>C (p.Ser1137=)
c.993T>C (p.Ser331=)
c.*1849T>C (n.*1849T>C)
n.3235T>C
c.1044T>C (p.Ser348=)
c.3165T>C (p.Ser1055=)
c.2436T>C (p.Ser812=)
c.1596T>C (p.Ser532=)
gnomAD v4
16g.1523560A>TCA394225230IFT140c.3411T>A (p.Ser1137Arg)
c.993T>A (p.Ser331Arg)
c.*1849T>A (n.*1849T>A)
n.3235T>A
c.1044T>A (p.Ser348Arg)
c.3165T>A (p.Ser1055Arg)
c.2436T>A (p.Ser812Arg)
c.1596T>A (p.Ser532Arg)
16g.1523560dupCA2631007149IFT140c.3411dup (p.Gln1138SerfsTer?)
c.993dup (p.Gln332SerfsTer?)
c.*1849dup (n.*1849dup)
n.3235dup
c.1044dup (p.Gln349SerfsTer?)
c.3165dup (p.Gln1056SerfsTer?)
c.2436dup (p.Gln813SerfsTer?)
c.1596dup (p.Gln533SerfsTer?)
gnomAD v4
16g.1523561C>ACA394225231IFT140c.3410G>T (p.Ser1137Ile)
c.992G>T (p.Ser331Ile)
c.*1848G>T (n.*1848G>T)
n.3234G>T
c.1043G>T (p.Ser348Ile)
c.3164G>T (p.Ser1055Ile)
c.2435G>T (p.Ser812Ile)
c.1595G>T (p.Ser532Ile)
16g.1523561C>GCA394225232IFT140c.3410G>C (p.Ser1137Thr)
c.992G>C (p.Ser331Thr)
c.*1848G>C (n.*1848G>C)
n.3234G>C
c.1043G>C (p.Ser348Thr)
c.3164G>C (p.Ser1055Thr)
c.2435G>C (p.Ser812Thr)
c.1595G>C (p.Ser532Thr)
16g.1523561C>TCA394225233IFT140c.3410G>A (p.Ser1137Asn)
c.992G>A (p.Ser331Asn)
c.*1848G>A (n.*1848G>A)
n.3234G>A
c.1043G>A (p.Ser348Asn)
c.3164G>A (p.Ser1055Asn)
c.2435G>A (p.Ser812Asn)
c.1595G>A (p.Ser532Asn)
16g.1523561_1523562delCA2805559214IFT140c.3409_3410del (p.Gln1138ValfsTer?)
c.991_992del (p.Gln332ValfsTer?)
c.*1847_*1848del (n.*1847_*1848del)
n.3233_3234del
c.1042_1043del (p.Gln349ValfsTer?)
c.3163_3164del (p.Gln1056ValfsTer?)
c.2434_2435del (p.Gln813ValfsTer?)
c.1594_1595del (p.Gln533ValfsTer?)
16g.1523561_1523563delinsCTGCA2201697780IFT140c.3408_3410delinsCAG (p.His1136=)
c.990_992delinsCAG (p.His330=)
c.*1846_*1848delinsCAG (n.*1846_*1848delinsCAG)
n.3232_3234delinsCAG
c.1041_1043delinsCAG (p.His347=)
c.3162_3164delinsCAG (p.His1054=)
c.2433_2435delinsCAG (p.His811=)
c.1593_1595delinsCAG (p.His531=)
16g.1523562T>ACA394225234IFT140c.3409A>T (p.Ser1137Cys)
c.991A>T (p.Ser331Cys)
c.*1847A>T (n.*1847A>T)
n.3233A>T
c.1042A>T (p.Ser348Cys)
c.3163A>T (p.Ser1055Cys)
c.2434A>T (p.Ser812Cys)
c.1594A>T (p.Ser532Cys)
16g.1523562T>CCA394225236IFT140c.3409A>G (p.Ser1137Gly)
c.991A>G (p.Ser331Gly)
c.*1847A>G (n.*1847A>G)
n.3233A>G
c.1042A>G (p.Ser348Gly)
c.3163A>G (p.Ser1055Gly)
c.2434A>G (p.Ser812Gly)
c.1594A>G (p.Ser532Gly)
gnomAD v4
16g.1523562T>GCA394225235IFT140c.3409A>C (p.Ser1137Arg)
c.991A>C (p.Ser331Arg)
c.*1847A>C (n.*1847A>C)
n.3233A>C
c.1042A>C (p.Ser348Arg)
c.3163A>C (p.Ser1055Arg)
c.2434A>C (p.Ser812Arg)
c.1594A>C (p.Ser532Arg)
16g.1523564_1523565delCA7813182IFT140c.3408_3409del (p.His1136GlnfsTer?)
c.990_991del (p.His330GlnfsTer?)
c.*1846_*1847del (n.*1846_*1847del)
n.3232_3233del
c.1041_1042del (p.His347GlnfsTer?)
c.3162_3163del (p.His1054GlnfsTer?)
c.2433_2434del (p.His811GlnfsTer?)
c.1593_1594del (p.His531GlnfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1523564_1523572delCA2631007153IFT140c.3401_3409del (p.Ile1134_His1136del)
c.983_991del (p.Ile328_His330del)
c.*1839_*1847del (n.*1839_*1847del)
n.3225_3233del
c.1034_1042del (p.Ile345_His347del)
c.3155_3163del (p.Ile1052_His1054del)
c.2426_2434del (p.Ile809_His811del)
c.1586_1594del (p.Ile529_His531del)
gnomAD v4
16g.1523563G>ACA493031775IFT140c.3408C>T (p.His1136=)
c.990C>T (p.His330=)
c.*1846C>T (n.*1846C>T)
n.3232C>T
c.1041C>T (p.His347=)
c.3162C>T (p.His1054=)
c.2433C>T (p.His811=)
c.1593C>T (p.His531=)
dbSNP gnomAD v2 gnomAD v4
16g.1523563G>CCA7813183IFT140c.3408C>G (p.His1136Gln)
c.990C>G (p.His330Gln)
c.*1846C>G (n.*1846C>G)
n.3232C>G
c.1041C>G (p.His347Gln)
c.3162C>G (p.His1054Gln)
c.2433C>G (p.His811Gln)
c.1593C>G (p.His531Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1523563G=CA2201697781IFT140c.3408C= (p.His1136=)
c.990C= (p.His330=)
c.*1846C= (n.*1846C=)
n.3232C=
c.1041C= (p.His347=)
c.3162C= (p.His1054=)
c.2433C= (p.His811=)
c.1593C= (p.His531=)
16g.1523563G>TCA394225237IFT140c.3408C>A (p.His1136Gln)
c.990C>A (p.His330Gln)
c.*1846C>A (n.*1846C>A)
n.3232C>A
c.1041C>A (p.His347Gln)
c.3162C>A (p.His1054Gln)
c.2433C>A (p.His811Gln)
c.1593C>A (p.His531Gln)
16g.1523564T>ACA394225238IFT140c.3407A>T (p.His1136Leu)
c.989A>T (p.His330Leu)
c.*1845A>T (n.*1845A>T)
n.3231A>T
c.1040A>T (p.His347Leu)
c.3161A>T (p.His1054Leu)
c.2432A>T (p.His811Leu)
c.1592A>T (p.His531Leu)
gnomAD v4
16g.1523564T>CCA394225239IFT140c.3407A>G (p.His1136Arg)
c.989A>G (p.His330Arg)
c.*1845A>G (n.*1845A>G)
n.3231A>G
c.1040A>G (p.His347Arg)
c.3161A>G (p.His1054Arg)
c.2432A>G (p.His811Arg)
c.1592A>G (p.His531Arg)
gnomAD v4
16g.1523564T>GCA394225240IFT140c.3407A>C (p.His1136Pro)
c.989A>C (p.His330Pro)
c.*1845A>C (n.*1845A>C)
n.3231A>C
c.1040A>C (p.His347Pro)
c.3161A>C (p.His1054Pro)
c.2432A>C (p.His811Pro)
c.1592A>C (p.His531Pro)
16g.1523565G>ACA394225241IFT140c.3406C>T (p.His1136Tyr)
c.988C>T (p.His330Tyr)
c.*1844C>T (n.*1844C>T)
n.3230C>T
c.1039C>T (p.His347Tyr)
c.3160C>T (p.His1054Tyr)
c.2431C>T (p.His811Tyr)
c.1591C>T (p.His531Tyr)
dbSNP gnomAD v3 gnomAD v4
16g.1523565G>CCA394225242IFT140c.3406C>G (p.His1136Asp)
c.988C>G (p.His330Asp)
c.*1844C>G (n.*1844C>G)
n.3230C>G
c.1039C>G (p.His347Asp)
c.3160C>G (p.His1054Asp)
c.2431C>G (p.His811Asp)
c.1591C>G (p.His531Asp)
16g.1523565G=CA2201697782IFT140c.3406C= (p.His1136=)
c.988C= (p.His330=)
c.*1844C= (n.*1844C=)
n.3230C=
c.1039C= (p.His347=)
c.3160C= (p.His1054=)
c.2431C= (p.His811=)
c.1591C= (p.His531=)
16g.1523565G>TCA394225243IFT140c.3406C>A (p.His1136Asn)
c.988C>A (p.His330Asn)
c.*1844C>A (n.*1844C>A)
n.3230C>A
c.1039C>A (p.His347Asn)
c.3160C>A (p.His1054Asn)
c.2431C>A (p.His811Asn)
c.1591C>A (p.His531Asn)
16g.1523566C>ACA394225244IFT140c.3405G>T (p.Glu1135Asp)
c.987G>T (p.Glu329Asp)
c.*1843G>T (n.*1843G>T)
n.3229G>T
c.1038G>T (p.Glu346Asp)
c.3159G>T (p.Glu1053Asp)
c.2430G>T (p.Glu810Asp)
c.1590G>T (p.Glu530Asp)
16g.1523566C>GCA394225245IFT140c.3405G>C (p.Glu1135Asp)
c.987G>C (p.Glu329Asp)
c.*1843G>C (n.*1843G>C)
n.3229G>C
c.1038G>C (p.Glu346Asp)
c.3159G>C (p.Glu1053Asp)
c.2430G>C (p.Glu810Asp)
c.1590G>C (p.Glu530Asp)
16g.1523566C>TCA493031784IFT140c.3405G>A (p.Glu1135=)
c.987G>A (p.Glu329=)
c.*1843G>A (n.*1843G>A)
n.3229G>A
c.1038G>A (p.Glu346=)
c.3159G>A (p.Glu1053=)
c.2430G>A (p.Glu810=)
c.1590G>A (p.Glu530=)
16g.1523567T>ACA394225247IFT140c.3404A>T (p.Glu1135Val)
c.986A>T (p.Glu329Val)
c.*1842A>T (n.*1842A>T)
n.3228A>T
c.1037A>T (p.Glu346Val)
c.3158A>T (p.Glu1053Val)
c.2429A>T (p.Glu810Val)
c.1589A>T (p.Glu530Val)
16g.1523567T>CCA394225248IFT140c.3404A>G (p.Glu1135Gly)
c.986A>G (p.Glu329Gly)
c.*1842A>G (n.*1842A>G)
n.3228A>G
c.1037A>G (p.Glu346Gly)
c.3158A>G (p.Glu1053Gly)
c.2429A>G (p.Glu810Gly)
c.1589A>G (p.Glu530Gly)
ClinVar dbSNP
16g.1523567T>GCA394225246IFT140c.3404A>C (p.Glu1135Ala)
c.986A>C (p.Glu329Ala)
c.*1842A>C (n.*1842A>C)
n.3228A>C
c.1037A>C (p.Glu346Ala)
c.3158A>C (p.Glu1053Ala)
c.2429A>C (p.Glu810Ala)
c.1589A>C (p.Glu530Ala)
16g.1523568C>ACA394225250IFT140c.3403G>T (p.Glu1135Ter)
c.985G>T (p.Glu329Ter)
c.*1841G>T (n.*1841G>T)
n.3227G>T
c.1036G>T (p.Glu346Ter)
c.3157G>T (p.Glu1053Ter)
c.2428G>T (p.Glu810Ter)
c.1588G>T (p.Glu530Ter)
16g.1523568C=CA2201697783IFT140c.3403G= (p.Glu1135=)
c.985G= (p.Glu329=)
c.*1841G= (n.*1841G=)
n.3227G=
c.1036G= (p.Glu346=)
c.3157G= (p.Glu1053=)
c.2428G= (p.Glu810=)
c.1588G= (p.Glu530=)
16g.1523568C>GCA394225249IFT140c.3403G>C (p.Glu1135Gln)
c.985G>C (p.Glu329Gln)
c.*1841G>C (n.*1841G>C)
n.3227G>C
c.1036G>C (p.Glu346Gln)
c.3157G>C (p.Glu1053Gln)
c.2428G>C (p.Glu810Gln)
c.1588G>C (p.Glu530Gln)
16g.1523568C>TCA7813184IFT140c.3403G>A (p.Glu1135Lys)
c.985G>A (p.Glu329Lys)
c.*1841G>A (n.*1841G>A)
n.3227G>A
c.1036G>A (p.Glu346Lys)
c.3157G>A (p.Glu1053Lys)
c.2428G>A (p.Glu810Lys)
c.1588G>A (p.Glu530Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1523569G>ACA7813185IFT140c.3402C>T (p.Ile1134=)
c.984C>T (p.Ile328=)
c.*1840C>T (n.*1840C>T)
n.3226C>T
c.1035C>T (p.Ile345=)
c.3156C>T (p.Ile1052=)
c.2427C>T (p.Ile809=)
c.1587C>T (p.Ile529=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1523569G>CCA394225251IFT140c.3402C>G (p.Ile1134Met)
c.984C>G (p.Ile328Met)
c.*1840C>G (n.*1840C>G)
n.3226C>G
c.1035C>G (p.Ile345Met)
c.3156C>G (p.Ile1052Met)
c.2427C>G (p.Ile809Met)
c.1587C>G (p.Ile529Met)
16g.1523569G=CA2201697784IFT140c.3402C= (p.Ile1134=)
c.984C= (p.Ile328=)
c.*1840C= (n.*1840C=)
n.3226C=
c.1035C= (p.Ile345=)
c.3156C= (p.Ile1052=)
c.2427C= (p.Ile809=)
c.1587C= (p.Ile529=)
16g.1523569G>TCA493031786IFT140c.3402C>A (p.Ile1134=)
c.984C>A (p.Ile328=)
c.*1840C>A (n.*1840C>A)
n.3226C>A
c.1035C>A (p.Ile345=)
c.3156C>A (p.Ile1052=)
c.2427C>A (p.Ile809=)
c.1587C>A (p.Ile529=)
16g.1523570A>CCA394225252IFT140c.3401T>G (p.Ile1134Ser)
c.983T>G (p.Ile328Ser)
c.*1839T>G (n.*1839T>G)
n.3225T>G
c.1034T>G (p.Ile345Ser)
c.3155T>G (p.Ile1052Ser)
c.2426T>G (p.Ile809Ser)
c.1586T>G (p.Ile529Ser)
16g.1523570A>GCA394225253IFT140c.3401T>C (p.Ile1134Thr)
c.983T>C (p.Ile328Thr)
c.*1839T>C (n.*1839T>C)
n.3225T>C
c.1034T>C (p.Ile345Thr)
c.3155T>C (p.Ile1052Thr)
c.2426T>C (p.Ile809Thr)
c.1586T>C (p.Ile529Thr)
16g.1523570A>TCA394225254IFT140c.3401T>A (p.Ile1134Asn)
c.983T>A (p.Ile328Asn)
c.*1839T>A (n.*1839T>A)
n.3225T>A
c.1034T>A (p.Ile345Asn)
c.3155T>A (p.Ile1052Asn)
c.2426T>A (p.Ile809Asn)
c.1586T>A (p.Ile529Asn)
16g.1523571T>ACA394225255IFT140c.3400A>T (p.Ile1134Phe)
c.982A>T (p.Ile328Phe)
c.*1838A>T (n.*1838A>T)
n.3224A>T
c.1033A>T (p.Ile345Phe)
c.3154A>T (p.Ile1052Phe)
c.2425A>T (p.Ile809Phe)
c.1585A>T (p.Ile529Phe)
16g.1523571T>CCA394225256IFT140c.3400A>G (p.Ile1134Val)
c.982A>G (p.Ile328Val)
c.*1838A>G (n.*1838A>G)
n.3224A>G
c.1033A>G (p.Ile345Val)
c.3154A>G (p.Ile1052Val)
c.2425A>G (p.Ile809Val)
c.1585A>G (p.Ile529Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1523571T>GCA394225257IFT140c.3400A>C (p.Ile1134Leu)
c.982A>C (p.Ile328Leu)
c.*1838A>C (n.*1838A>C)
n.3224A>C
c.1033A>C (p.Ile345Leu)
c.3154A>C (p.Ile1052Leu)
c.2425A>C (p.Ile809Leu)
c.1585A>C (p.Ile529Leu)
16g.1523571T=CA2201697785IFT140c.3400A= (p.Ile1134=)
c.982A= (p.Ile328=)
c.*1838A= (n.*1838A=)
n.3224A=
c.1033A= (p.Ile345=)
c.3154A= (p.Ile1052=)
c.2425A= (p.Ile809=)
c.1585A= (p.Ile529=)
16g.1523571_1523574delinsTGAACA2201697786IFT140c.3397_3400delinsTTCA (p.Phe1133=)
c.979_982delinsTTCA (p.Phe327=)
c.*1835_*1838delinsTTCA (n.*1835_*1838delinsTTCA)
n.3221_3224delinsTTCA
c.1030_1033delinsTTCA (p.Phe344=)
c.3151_3154delinsTTCA (p.Phe1051=)
c.2422_2425delinsTTCA (p.Phe808=)
c.1582_1585delinsTTCA (p.Phe528=)
16g.1523572G>ACA276677510IFT140c.3399C>T (p.Phe1133=)
c.981C>T (p.Phe327=)
c.*1837C>T (n.*1837C>T)
n.3223C>T
c.1032C>T (p.Phe344=)
c.3153C>T (p.Phe1051=)
c.2424C>T (p.Phe808=)
c.1584C>T (p.Phe528=)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.1523572G>CCA394225258IFT140c.3399C>G (p.Phe1133Leu)
c.981C>G (p.Phe327Leu)
c.*1837C>G (n.*1837C>G)
n.3223C>G
c.1032C>G (p.Phe344Leu)
c.3153C>G (p.Phe1051Leu)
c.2424C>G (p.Phe808Leu)
c.1584C>G (p.Phe528Leu)
16g.1523572G=CA2201697787IFT140c.3399C= (p.Phe1133=)
c.981C= (p.Phe327=)
c.*1837C= (n.*1837C=)
n.3223C=
c.1032C= (p.Phe344=)
c.3153C= (p.Phe1051=)
c.2424C= (p.Phe808=)
c.1584C= (p.Phe528=)
16g.1523572G>TCA394225259IFT140c.3399C>A (p.Phe1133Leu)
c.981C>A (p.Phe327Leu)
c.*1837C>A (n.*1837C>A)
n.3223C>A
c.1032C>A (p.Phe344Leu)
c.3153C>A (p.Phe1051Leu)
c.2424C>A (p.Phe808Leu)
c.1584C>A (p.Phe528Leu)
16g.1523576_1523578delCA2201697788IFT140c.3397_3399del (p.Phe1133del)
c.979_981del (p.Phe327del)
c.*1835_*1837del (n.*1835_*1837del)
n.3221_3223del
c.1030_1032del (p.Phe344del)
c.3151_3153del (p.Phe1051del)
c.2422_2424del (p.Phe808del)
c.1582_1584del (p.Phe528del)
ClinVar dbSNP gnomAD v4
16g.1523573A>CCA394225262IFT140c.3398T>G (p.Phe1133Cys)
c.980T>G (p.Phe327Cys)
c.*1836T>G (n.*1836T>G)
n.3222T>G
c.1031T>G (p.Phe344Cys)
c.3152T>G (p.Phe1051Cys)
c.2423T>G (p.Phe808Cys)
c.1583T>G (p.Phe528Cys)
16g.1523573A>GCA394225261IFT140c.3398T>C (p.Phe1133Ser)
c.980T>C (p.Phe327Ser)
c.*1836T>C (n.*1836T>C)
n.3222T>C
c.1031T>C (p.Phe344Ser)
c.3152T>C (p.Phe1051Ser)
c.2423T>C (p.Phe808Ser)
c.1583T>C (p.Phe528Ser)
16g.1523573A>TCA394225260IFT140c.3398T>A (p.Phe1133Tyr)
c.980T>A (p.Phe327Tyr)
c.*1836T>A (n.*1836T>A)
n.3222T>A
c.1031T>A (p.Phe344Tyr)
c.3152T>A (p.Phe1051Tyr)
c.2423T>A (p.Phe808Tyr)
c.1583T>A (p.Phe528Tyr)
16g.1523574A=CA2201697789IFT140c.3397T= (p.Phe1133=)
c.979T= (p.Phe327=)
c.*1835T= (n.*1835T=)
n.3221T=
c.1030T= (p.Phe344=)
c.3151T= (p.Phe1051=)
c.2422T= (p.Phe808=)
c.1582T= (p.Phe528=)
16g.1523574A>CCA394225263IFT140c.3397T>G (p.Phe1133Val)
c.979T>G (p.Phe327Val)
c.*1835T>G (n.*1835T>G)
n.3221T>G
c.1030T>G (p.Phe344Val)
c.3151T>G (p.Phe1051Val)
c.2422T>G (p.Phe808Val)
c.1582T>G (p.Phe528Val)
16g.1523574A>GCA7813186IFT140c.3397T>C (p.Phe1133Leu)
c.979T>C (p.Phe327Leu)
c.*1835T>C (n.*1835T>C)
n.3221T>C
c.1030T>C (p.Phe344Leu)
c.3151T>C (p.Phe1051Leu)
c.2422T>C (p.Phe808Leu)
c.1582T>C (p.Phe528Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.1523574A>TCA394225264IFT140c.3397T>A (p.Phe1133Ile)
c.979T>A (p.Phe327Ile)
c.*1835T>A (n.*1835T>A)
n.3221T>A
c.1030T>A (p.Phe344Ile)
c.3151T>A (p.Phe1051Ile)
c.2422T>A (p.Phe808Ile)
c.1582T>A (p.Phe528Ile)
16g.1523575G>ACA493031797IFT140c.3396C>T (p.Phe1132=)
c.978C>T (p.Phe326=)
c.*1834C>T (n.*1834C>T)
n.3220C>T
c.1029C>T (p.Phe343=)
c.3150C>T (p.Phe1050=)
c.2421C>T (p.Phe807=)
c.1581C>T (p.Phe527=)
16g.1523575G>CCA394225265IFT140c.3396C>G (p.Phe1132Leu)
c.978C>G (p.Phe326Leu)
c.*1834C>G (n.*1834C>G)
n.3220C>G
c.1029C>G (p.Phe343Leu)
c.3150C>G (p.Phe1050Leu)
c.2421C>G (p.Phe807Leu)
c.1581C>G (p.Phe527Leu)
16g.1523575G>TCA394225266IFT140c.3396C>A (p.Phe1132Leu)
c.978C>A (p.Phe326Leu)
c.*1834C>A (n.*1834C>A)
n.3220C>A
c.1029C>A (p.Phe343Leu)
c.3150C>A (p.Phe1050Leu)
c.2421C>A (p.Phe807Leu)
c.1581C>A (p.Phe527Leu)
16g.1523576A>CCA394225267IFT140c.3395T>G (p.Phe1132Cys)
c.977T>G (p.Phe326Cys)
c.*1833T>G (n.*1833T>G)
n.3219T>G
c.1028T>G (p.Phe343Cys)
c.3149T>G (p.Phe1050Cys)
c.2420T>G (p.Phe807Cys)
c.1580T>G (p.Phe527Cys)
16g.1523576A>GCA394225268IFT140c.3395T>C (p.Phe1132Ser)
c.977T>C (p.Phe326Ser)
c.*1833T>C (n.*1833T>C)
n.3219T>C
c.1028T>C (p.Phe343Ser)
c.3149T>C (p.Phe1050Ser)
c.2420T>C (p.Phe807Ser)
c.1580T>C (p.Phe527Ser)
16g.1523576A>TCA394225269IFT140c.3395T>A (p.Phe1132Tyr)
c.977T>A (p.Phe326Tyr)
c.*1833T>A (n.*1833T>A)
n.3219T>A
c.1028T>A (p.Phe343Tyr)
c.3149T>A (p.Phe1050Tyr)
c.2420T>A (p.Phe807Tyr)
c.1580T>A (p.Phe527Tyr)
16g.1523577A>CCA394225270IFT140c.3394T>G (p.Phe1132Val)
c.976T>G (p.Phe326Val)
c.*1832T>G (n.*1832T>G)
n.3218T>G
c.1027T>G (p.Phe343Val)
c.3148T>G (p.Phe1050Val)
c.2419T>G (p.Phe807Val)
c.1579T>G (p.Phe527Val)
16g.1523577A>GCA394225271IFT140c.3394T>C (p.Phe1132Leu)
c.976T>C (p.Phe326Leu)
c.*1832T>C (n.*1832T>C)
n.3218T>C
c.1027T>C (p.Phe343Leu)
c.3148T>C (p.Phe1050Leu)
c.2419T>C (p.Phe807Leu)
c.1579T>C (p.Phe527Leu)
16g.1523577A>TCA394225272IFT140c.3394T>A (p.Phe1132Ile)
c.976T>A (p.Phe326Ile)
c.*1832T>A (n.*1832T>A)
n.3218T>A
c.1027T>A (p.Phe343Ile)
c.3148T>A (p.Phe1050Ile)
c.2419T>A (p.Phe807Ile)
c.1579T>A (p.Phe527Ile)
16g.1523578G>ACA493031801IFT140c.3393C>T (p.Asp1131=)
c.975C>T (p.Asp325=)
c.*1831C>T (n.*1831C>T)
n.3217C>T
c.1026C>T (p.Asp342=)
c.3147C>T (p.Asp1049=)
c.2418C>T (p.Asp806=)
c.1578C>T (p.Asp526=)
gnomAD v4
16g.1523578G>CCA394225273IFT140c.3393C>G (p.Asp1131Glu)
c.975C>G (p.Asp325Glu)
c.*1831C>G (n.*1831C>G)
n.3217C>G
c.1026C>G (p.Asp342Glu)
c.3147C>G (p.Asp1049Glu)
c.2418C>G (p.Asp806Glu)
c.1578C>G (p.Asp526Glu)
dbSNP
16g.1523578G=CA2201697790IFT140c.3393C= (p.Asp1131=)
c.975C= (p.Asp325=)
c.*1831C= (n.*1831C=)
n.3217C=
c.1026C= (p.Asp342=)
c.3147C= (p.Asp1049=)
c.2418C= (p.Asp806=)
c.1578C= (p.Asp526=)
16g.1523578G>TCA7813187IFT140c.3393C>A (p.Asp1131Glu)
c.975C>A (p.Asp325Glu)
c.*1831C>A (n.*1831C>A)
n.3217C>A
c.1026C>A (p.Asp342Glu)
c.3147C>A (p.Asp1049Glu)
c.2418C>A (p.Asp806Glu)
c.1578C>A (p.Asp526Glu)
dbSNP ExAC gnomAD v2
16g.1523579T>ACA394225276IFT140c.3392A>T (p.Asp1131Val)
c.974A>T (p.Asp325Val)
c.*1830A>T (n.*1830A>T)
n.3216A>T
c.1025A>T (p.Asp342Val)
c.3146A>T (p.Asp1049Val)
c.2417A>T (p.Asp806Val)
c.1577A>T (p.Asp526Val)
16g.1523579T>CCA394225275IFT140c.3392A>G (p.Asp1131Gly)
c.974A>G (p.Asp325Gly)
c.*1830A>G (n.*1830A>G)
n.3216A>G
c.1025A>G (p.Asp342Gly)
c.3146A>G (p.Asp1049Gly)
c.2417A>G (p.Asp806Gly)
c.1577A>G (p.Asp526Gly)
16g.1523579T>GCA394225274IFT140c.3392A>C (p.Asp1131Ala)
c.974A>C (p.Asp325Ala)
c.*1830A>C (n.*1830A>C)
n.3216A>C
c.1025A>C (p.Asp342Ala)
c.3146A>C (p.Asp1049Ala)
c.2417A>C (p.Asp806Ala)
c.1577A>C (p.Asp526Ala)
16g.1523580C>ACA394225278IFT140c.3391G>T (p.Asp1131Tyr)
c.973G>T (p.Asp325Tyr)
c.*1829G>T (n.*1829G>T)
n.3215G>T
c.1024G>T (p.Asp342Tyr)
c.3145G>T (p.Asp1049Tyr)
c.2416G>T (p.Asp806Tyr)
c.1576G>T (p.Asp526Tyr)
gnomAD v4
16g.1523580C=CA2201697791IFT140c.3391G= (p.Asp1131=)
c.973G= (p.Asp325=)
c.*1829G= (n.*1829G=)
n.3215G=
c.1024G= (p.Asp342=)
c.3145G= (p.Asp1049=)
c.2416G= (p.Asp806=)
c.1576G= (p.Asp526=)
16g.1523580C>GCA394225277IFT140c.3391G>C (p.Asp1131His)
c.973G>C (p.Asp325His)
c.*1829G>C (n.*1829G>C)
n.3215G>C
c.1024G>C (p.Asp342His)
c.3145G>C (p.Asp1049His)
c.2416G>C (p.Asp806His)
c.1576G>C (p.Asp526His)
16g.1523580C>TCA7813188IFT140c.3391G>A (p.Asp1131Asn)
c.973G>A (p.Asp325Asn)
c.*1829G>A (n.*1829G>A)
n.3215G>A
c.1024G>A (p.Asp342Asn)
c.3145G>A (p.Asp1049Asn)
c.2416G>A (p.Asp806Asn)
c.1576G>A (p.Asp526Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1523581G>ACA7813189IFT140c.3390C>T (p.Ser1130=)
c.972C>T (p.Ser324=)
c.*1828C>T (n.*1828C>T)
n.3214C>T
c.1023C>T (p.Ser341=)
c.3144C>T (p.Ser1048=)
c.2415C>T (p.Ser805=)
c.1575C>T (p.Ser525=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.1523581G>CCA493031811IFT140c.3390C>G (p.Ser1130=)
c.972C>G (p.Ser324=)
c.*1828C>G (n.*1828C>G)
n.3214C>G
c.1023C>G (p.Ser341=)
c.3144C>G (p.Ser1048=)
c.2415C>G (p.Ser805=)
c.1575C>G (p.Ser525=)
16g.1523581G=CA2201697792IFT140c.3390C= (p.Ser1130=)
c.972C= (p.Ser324=)
c.*1828C= (n.*1828C=)
n.3214C=
c.1023C= (p.Ser341=)
c.3144C= (p.Ser1048=)
c.2415C= (p.Ser805=)
c.1575C= (p.Ser525=)
16g.1523581G>TCA493031813IFT140c.3390C>A (p.Ser1130=)
c.972C>A (p.Ser324=)
c.*1828C>A (n.*1828C>A)
n.3214C>A
c.1023C>A (p.Ser341=)
c.3144C>A (p.Ser1048=)
c.2415C>A (p.Ser805=)
c.1575C>A (p.Ser525=)
16g.1523582G>ACA394225279IFT140c.3389C>T (p.Ser1130Phe)
c.971C>T (p.Ser324Phe)
c.*1827C>T (n.*1827C>T)
n.3213C>T
c.1022C>T (p.Ser341Phe)
c.3143C>T (p.Ser1048Phe)
c.2414C>T (p.Ser805Phe)
c.1574C>T (p.Ser525Phe)
16g.1523582G>CCA7813190IFT140c.3389C>G (p.Ser1130Cys)
c.971C>G (p.Ser324Cys)
c.*1827C>G (n.*1827C>G)
n.3213C>G
c.1022C>G (p.Ser341Cys)
c.3143C>G (p.Ser1048Cys)
c.2414C>G (p.Ser805Cys)
c.1574C>G (p.Ser525Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.1523582G=CA2201697793IFT140c.3389C= (p.Ser1130=)
c.971C= (p.Ser324=)
c.*1827C= (n.*1827C=)
n.3213C=
c.1022C= (p.Ser341=)
c.3143C= (p.Ser1048=)
c.2414C= (p.Ser805=)
c.1574C= (p.Ser525=)
16g.1523582G>TCA394225280IFT140c.3389C>A (p.Ser1130Tyr)
c.971C>A (p.Ser324Tyr)
c.*1827C>A (n.*1827C>A)
n.3213C>A
c.1022C>A (p.Ser341Tyr)
c.3143C>A (p.Ser1048Tyr)
c.2414C>A (p.Ser805Tyr)
c.1574C>A (p.Ser525Tyr)
16g.1523583A>CCA394225283IFT140c.3388T>G (p.Ser1130Ala)
c.970T>G (p.Ser324Ala)
c.*1826T>G (n.*1826T>G)
n.3212T>G
c.1021T>G (p.Ser341Ala)
c.3142T>G (p.Ser1048Ala)
c.2413T>G (p.Ser805Ala)
c.1573T>G (p.Ser525Ala)
16g.1523583A>GCA394225281IFT140c.3388T>C (p.Ser1130Pro)
c.970T>C (p.Ser324Pro)
c.*1826T>C (n.*1826T>C)
n.3212T>C
c.1021T>C (p.Ser341Pro)
c.3142T>C (p.Ser1048Pro)
c.2413T>C (p.Ser805Pro)
c.1573T>C (p.Ser525Pro)
16g.1523583A>TCA394225282IFT140c.3388T>A (p.Ser1130Thr)
c.970T>A (p.Ser324Thr)
c.*1826T>A (n.*1826T>A)
n.3212T>A
c.1021T>A (p.Ser341Thr)
c.3142T>A (p.Ser1048Thr)
c.2413T>A (p.Ser805Thr)
c.1573T>A (p.Ser525Thr)
16g.1523584G>ACA493031819IFT140c.3387C>T (p.Cys1129=)
c.969C>T (p.Cys323=)
c.*1825C>T (n.*1825C>T)
n.3211C>T
c.1020C>T (p.Cys340=)
c.3141C>T (p.Cys1047=)
c.2412C>T (p.Cys804=)
c.1572C>T (p.Cys524=)
16g.1523584G>CCA7813191IFT140c.3387C>G (p.Cys1129Trp)
c.969C>G (p.Cys323Trp)
c.*1825C>G (n.*1825C>G)
n.3211C>G
c.1020C>G (p.Cys340Trp)
c.3141C>G (p.Cys1047Trp)
c.2412C>G (p.Cys804Trp)
c.1572C>G (p.Cys524Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1523584G=CA2201697794IFT140c.3387C= (p.Cys1129=)
c.969C= (p.Cys323=)
c.*1825C= (n.*1825C=)
n.3211C=
c.1020C= (p.Cys340=)
c.3141C= (p.Cys1047=)
c.2412C= (p.Cys804=)
c.1572C= (p.Cys524=)
16g.1523584G>TCA394225284IFT140c.3387C>A (p.Cys1129Ter)
c.969C>A (p.Cys323Ter)
c.*1825C>A (n.*1825C>A)
n.3211C>A
c.1020C>A (p.Cys340Ter)
c.3141C>A (p.Cys1047Ter)
c.2412C>A (p.Cys804Ter)
c.1572C>A (p.Cys524Ter)
16g.1523585C>ACA394225285IFT140c.3386G>T (p.Cys1129Phe)
c.968G>T (p.Cys323Phe)
c.*1824G>T (n.*1824G>T)
n.3210G>T
c.1019G>T (p.Cys340Phe)
c.3140G>T (p.Cys1047Phe)
c.2411G>T (p.Cys804Phe)
c.1571G>T (p.Cys524Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1523585C=CA2201697795IFT140c.3386G= (p.Cys1129=)
c.968G= (p.Cys323=)
c.*1824G= (n.*1824G=)
n.3210G=
c.1019G= (p.Cys340=)
c.3140G= (p.Cys1047=)
c.2411G= (p.Cys804=)
c.1571G= (p.Cys524=)
16g.1523585C>GCA394225286IFT140c.3386G>C (p.Cys1129Ser)
c.968G>C (p.Cys323Ser)
c.*1824G>C (n.*1824G>C)
n.3210G>C
c.1019G>C (p.Cys340Ser)
c.3140G>C (p.Cys1047Ser)
c.2411G>C (p.Cys804Ser)
c.1571G>C (p.Cys524Ser)
16g.1523585C>TCA394225287IFT140c.3386G>A (p.Cys1129Tyr)
c.968G>A (p.Cys323Tyr)
c.*1824G>A (n.*1824G>A)
n.3210G>A
c.1019G>A (p.Cys340Tyr)
c.3140G>A (p.Cys1047Tyr)
c.2411G>A (p.Cys804Tyr)
c.1571G>A (p.Cys524Tyr)
dbSNP
16g.1523586A=CA2201697796IFT140c.3385T= (p.Cys1129=)
c.967T= (p.Cys323=)
c.*1823T= (n.*1823T=)
n.3209T=
c.1018T= (p.Cys340=)
c.3139T= (p.Cys1047=)
c.2410T= (p.Cys804=)
c.1570T= (p.Cys524=)
16g.1523586A>CCA394225288IFT140c.3385T>G (p.Cys1129Gly)
c.967T>G (p.Cys323Gly)
c.*1823T>G (n.*1823T>G)
n.3209T>G
c.1018T>G (p.Cys340Gly)
c.3139T>G (p.Cys1047Gly)
c.2410T>G (p.Cys804Gly)
c.1570T>G (p.Cys524Gly)
16g.1523586A>GCA10637181IFT140c.3385T>C (p.Cys1129Arg)
c.967T>C (p.Cys323Arg)
c.*1823T>C (n.*1823T>C)
n.3209T>C
c.1018T>C (p.Cys340Arg)
c.3139T>C (p.Cys1047Arg)
c.2410T>C (p.Cys804Arg)
c.1570T>C (p.Cys524Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.1523586A>TCA394225289IFT140c.3385T>A (p.Cys1129Ser)
c.967T>A (p.Cys323Ser)
c.*1823T>A (n.*1823T>A)
n.3209T>A
c.1018T>A (p.Cys340Ser)
c.3139T>A (p.Cys1047Ser)
c.2410T>A (p.Cys804Ser)
c.1570T>A (p.Cys524Ser)
16g.1523586_1523587insCACTCA620700904IFT140c.3384_3385insAGTG (p.Cys1129SerfsTer?)
c.966_967insAGTG (p.Cys323SerfsTer?)
c.*1822_*1823insAGTG (n.*1822_*1823insAGTG)
n.3208_3209insAGTG
c.1017_1018insAGTG (p.Cys340SerfsTer?)
c.3138_3139insAGTG (p.Cys1047SerfsTer?)
c.2409_2410insAGTG (p.Cys804SerfsTer?)
c.1569_1570insAGTG (p.Cys524SerfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1523587G>ACA493031823IFT140c.3384C>T (p.Arg1128=)
c.966C>T (p.Arg322=)
c.*1822C>T (n.*1822C>T)
n.3208C>T
c.1017C>T (p.Arg339=)
c.3138C>T (p.Arg1046=)
c.2409C>T (p.Arg803=)
c.1569C>T (p.Arg523=)
dbSNP gnomAD v4
16g.1523587G>CCA493031824IFT140c.3384C>G (p.Arg1128=)
c.966C>G (p.Arg322=)
c.*1822C>G (n.*1822C>G)
n.3208C>G
c.1017C>G (p.Arg339=)
c.3138C>G (p.Arg1046=)
c.2409C>G (p.Arg803=)
c.1569C>G (p.Arg523=)
16g.1523587G=CA2201697797IFT140c.3384C= (p.Arg1128=)
c.966C= (p.Arg322=)
c.*1822C= (n.*1822C=)
n.3208C=
c.1017C= (p.Arg339=)
c.3138C= (p.Arg1046=)
c.2409C= (p.Arg803=)
c.1569C= (p.Arg523=)
16g.1523587G>TCA493031825IFT140c.3384C>A (p.Arg1128=)
c.966C>A (p.Arg322=)
c.*1822C>A (n.*1822C>A)
n.3208C>A
c.1017C>A (p.Arg339=)
c.3138C>A (p.Arg1046=)
c.2409C>A (p.Arg803=)
c.1569C>A (p.Arg523=)
16g.1523587_1523588insACTGTGCTCCGAAGAAGTCA620700905IFT140c.3383_3384insACTTCTTCGGAGCACAGT (p.Arg1128_Cys1129insLeuLeuArgSerThrVal)
c.965_966insACTTCTTCGGAGCACAGT (p.Arg322_Cys323insLeuLeuArgSerThrVal)
c.*1821_*1822insACTTCTTCGGAGCACAGT (n.*1821_*1822insACTTCTTCGGAGCACAGT)
n.3207_3208insACTTCTTCGGAGCACAGT
c.1016_1017insACTTCTTCGGAGCACAGT (p.Arg339_Cys340insLeuLeuArgSerThrVal)
c.3137_3138insACTTCTTCGGAGCACAGT (p.Arg1046_Cys1047insLeuLeuArgSerThrVal)
c.2408_2409insACTTCTTCGGAGCACAGT (p.Arg803_Cys804insLeuLeuArgSerThrVal)
c.1568_1569insACTTCTTCGGAGCACAGT (p.Arg523_Cys524insLeuLeuArgSerThrVal)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1523588C>ACA276677539IFT140c.3383G>T (p.Arg1128Leu)
c.965G>T (p.Arg322Leu)
c.*1821G>T (n.*1821G>T)
n.3207G>T
c.1016G>T (p.Arg339Leu)
c.3137G>T (p.Arg1046Leu)
c.2408G>T (p.Arg803Leu)
c.1568G>T (p.Arg523Leu)
dbSNP
16g.1523588C=CA2201697798IFT140c.3383G= (p.Arg1128=)
c.965G= (p.Arg322=)
c.*1821G= (n.*1821G=)
n.3207G=
c.1016G= (p.Arg339=)
c.3137G= (p.Arg1046=)
c.2408G= (p.Arg803=)
c.1568G= (p.Arg523=)
16g.1523588C>GCA394225290IFT140c.3383G>C (p.Arg1128Pro)
c.965G>C (p.Arg322Pro)
c.*1821G>C (n.*1821G>C)
n.3207G>C
c.1016G>C (p.Arg339Pro)
c.3137G>C (p.Arg1046Pro)
c.2408G>C (p.Arg803Pro)
c.1568G>C (p.Arg523Pro)
16g.1523588C>TCA7813192IFT140c.3383G>A (p.Arg1128His)
c.965G>A (p.Arg322His)
c.*1821G>A (n.*1821G>A)
n.3207G>A
c.1016G>A (p.Arg339His)
c.3137G>A (p.Arg1046His)
c.2408G>A (p.Arg803His)
c.1568G>A (p.Arg523His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1523589G>ACA7813193IFT140c.3382C>T (p.Arg1128Cys)
c.964C>T (p.Arg322Cys)
c.*1820C>T (n.*1820C>T)
n.3206C>T
c.1015C>T (p.Arg339Cys)
c.3136C>T (p.Arg1046Cys)
c.2407C>T (p.Arg803Cys)
c.1567C>T (p.Arg523Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1523589G>CCA394225291IFT140c.3382C>G (p.Arg1128Gly)
c.964C>G (p.Arg322Gly)
c.*1820C>G (n.*1820C>G)
n.3206C>G
c.1015C>G (p.Arg339Gly)
c.3136C>G (p.Arg1046Gly)
c.2407C>G (p.Arg803Gly)
c.1567C>G (p.Arg523Gly)
16g.1523589G=CA2201697799IFT140c.3382C= (p.Arg1128=)
c.964C= (p.Arg322=)
c.*1820C= (n.*1820C=)
n.3206C=
c.1015C= (p.Arg339=)
c.3136C= (p.Arg1046=)
c.2407C= (p.Arg803=)
c.1567C= (p.Arg523=)
16g.1523589G>TCA394225292IFT140c.3382C>A (p.Arg1128Ser)
c.964C>A (p.Arg322Ser)
c.*1820C>A (n.*1820C>A)
n.3206C>A
c.1015C>A (p.Arg339Ser)
c.3136C>A (p.Arg1046Ser)
c.2407C>A (p.Arg803Ser)
c.1567C>A (p.Arg523Ser)
16g.1523590G>ACA493031831IFT140c.3381C>T (p.Ala1127=)
c.963C>T (p.Ala321=)
c.*1819C>T (n.*1819C>T)
n.3205C>T
c.1014C>T (p.Ala338=)
c.3135C>T (p.Ala1045=)
c.2406C>T (p.Ala802=)
c.1566C>T (p.Ala522=)
16g.1523590G>CCA493031834IFT140c.3381C>G (p.Ala1127=)
c.963C>G (p.Ala321=)
c.*1819C>G (n.*1819C>G)
n.3205C>G
c.1014C>G (p.Ala338=)
c.3135C>G (p.Ala1045=)
c.2406C>G (p.Ala802=)
c.1566C>G (p.Ala522=)
ClinVar
16g.1523590G>TCA493031837IFT140c.3381C>A (p.Ala1127=)
c.963C>A (p.Ala321=)
c.*1819C>A (n.*1819C>A)
n.3205C>A
c.1014C>A (p.Ala338=)
c.3135C>A (p.Ala1045=)
c.2406C>A (p.Ala802=)
c.1566C>A (p.Ala522=)
16g.1523590_1523593delinsGGCCCA2201697800IFT140c.3378_3381delinsGGCC (p.Leu1126=)
c.960_963delinsGGCC (p.Leu320=)
c.*1816_*1819delinsGGCC (n.*1816_*1819delinsGGCC)
n.3202_3205delinsGGCC
c.1011_1014delinsGGCC (p.Leu337=)
c.3132_3135delinsGGCC (p.Leu1044=)
c.2403_2406delinsGGCC (p.Leu801=)
c.1563_1566delinsGGCC (p.Leu521=)
16g.1523591G>ACA394225293IFT140c.3380C>T (p.Ala1127Val)
c.962C>T (p.Ala321Val)
c.*1818C>T (n.*1818C>T)
n.3204C>T
c.1013C>T (p.Ala338Val)
c.3134C>T (p.Ala1045Val)
c.2405C>T (p.Ala802Val)
c.1565C>T (p.Ala522Val)
16g.1523591G>CCA394225294IFT140c.3380C>G (p.Ala1127Gly)
c.962C>G (p.Ala321Gly)
c.*1818C>G (n.*1818C>G)
n.3204C>G
c.1013C>G (p.Ala338Gly)
c.3134C>G (p.Ala1045Gly)
c.2405C>G (p.Ala802Gly)
c.1565C>G (p.Ala522Gly)
16g.1523591G>TCA394225295IFT140c.3380C>A (p.Ala1127Asp)
c.962C>A (p.Ala321Asp)
c.*1818C>A (n.*1818C>A)
n.3204C>A
c.1013C>A (p.Ala338Asp)
c.3134C>A (p.Ala1045Asp)
c.2405C>A (p.Ala802Asp)
c.1565C>A (p.Ala522Asp)
16g.1523591_1523593delCA620700908IFT140c.3378_3380del (p.Ala1127del)
c.960_962del (p.Ala321del)
c.*1816_*1818del (n.*1816_*1818del)
n.3202_3204del
c.1011_1013del (p.Ala338del)
c.3132_3134del (p.Ala1045del)
c.2403_2405del (p.Ala802del)
c.1563_1565del (p.Ala522del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1523592C>ACA394225296IFT140c.3379G>T (p.Ala1127Ser)
c.961G>T (p.Ala321Ser)
c.*1817G>T (n.*1817G>T)
n.3203G>T
c.1012G>T (p.Ala338Ser)
c.3133G>T (p.Ala1045Ser)
c.2404G>T (p.Ala802Ser)
c.1564G>T (p.Ala522Ser)
16g.1523592C>GCA394225297IFT140c.3379G>C (p.Ala1127Pro)
c.961G>C (p.Ala321Pro)
c.*1817G>C (n.*1817G>C)
n.3203G>C
c.1012G>C (p.Ala338Pro)
c.3133G>C (p.Ala1045Pro)
c.2404G>C (p.Ala802Pro)
c.1564G>C (p.Ala522Pro)
16g.1523592C>TCA394225298IFT140c.3379G>A (p.Ala1127Thr)
c.961G>A (p.Ala321Thr)
c.*1817G>A (n.*1817G>A)
n.3203G>A
c.1012G>A (p.Ala338Thr)
c.3133G>A (p.Ala1045Thr)
c.2404G>A (p.Ala802Thr)
c.1564G>A (p.Ala522Thr)
ClinVar gnomAD v4
16g.1523593C>ACA493031843IFT140c.3378G>T (p.Leu1126=)
c.960G>T (p.Leu320=)
c.*1816G>T (n.*1816G>T)
n.3202G>T
c.1011G>T (p.Leu337=)
c.3132G>T (p.Leu1044=)
c.2403G>T (p.Leu801=)
c.1563G>T (p.Leu521=)
16g.1523593C>GCA493031845IFT140c.3378G>C (p.Leu1126=)
c.960G>C (p.Leu320=)
c.*1816G>C (n.*1816G>C)
n.3202G>C
c.1011G>C (p.Leu337=)
c.3132G>C (p.Leu1044=)
c.2403G>C (p.Leu801=)
c.1563G>C (p.Leu521=)
16g.1523593C>TCA493031846IFT140c.3378G>A (p.Leu1126=)
c.960G>A (p.Leu320=)
c.*1816G>A (n.*1816G>A)
n.3202G>A
c.1011G>A (p.Leu337=)
c.3132G>A (p.Leu1044=)
c.2403G>A (p.Leu801=)
c.1563G>A (p.Leu521=)
16g.1523594A=CA2201697801IFT140c.3377T= (p.Leu1126=)
c.959T= (p.Leu320=)
c.*1815T= (n.*1815T=)
n.3201T=
c.1010T= (p.Leu337=)
c.3131T= (p.Leu1044=)
c.2402T= (p.Leu801=)
c.1562T= (p.Leu521=)
16g.1523594A>CCA394225300IFT140c.3377T>G (p.Leu1126Arg)
c.959T>G (p.Leu320Arg)
c.*1815T>G (n.*1815T>G)
n.3201T>G
c.1010T>G (p.Leu337Arg)
c.3131T>G (p.Leu1044Arg)
c.2402T>G (p.Leu801Arg)
c.1562T>G (p.Leu521Arg)
16g.1523594A>GCA394225301IFT140c.3377T>C (p.Leu1126Pro)
c.959T>C (p.Leu320Pro)
c.*1815T>C (n.*1815T>C)
n.3201T>C
c.1010T>C (p.Leu337Pro)
c.3131T>C (p.Leu1044Pro)
c.2402T>C (p.Leu801Pro)
c.1562T>C (p.Leu521Pro)
ClinVar dbSNP
16g.1523594A>TCA394225299IFT140c.3377T>A (p.Leu1126Gln)
c.959T>A (p.Leu320Gln)
c.*1815T>A (n.*1815T>A)
n.3201T>A
c.1010T>A (p.Leu337Gln)
c.3131T>A (p.Leu1044Gln)
c.2402T>A (p.Leu801Gln)
c.1562T>A (p.Leu521Gln)
16g.1523595G>ACA493031850IFT140c.3376C>T (p.Leu1126=)
c.958C>T (p.Leu320=)
c.*1814C>T (n.*1814C>T)
n.3200C>T
c.1009C>T (p.Leu337=)
c.3130C>T (p.Leu1044=)
c.2401C>T (p.Leu801=)
c.1561C>T (p.Leu521=)
16g.1523595G>CCA394225302IFT140c.3376C>G (p.Leu1126Val)
c.958C>G (p.Leu320Val)
c.*1814C>G (n.*1814C>G)
n.3200C>G
c.1009C>G (p.Leu337Val)
c.3130C>G (p.Leu1044Val)
c.2401C>G (p.Leu801Val)
c.1561C>G (p.Leu521Val)
16g.1523595G>TCA394225303IFT140c.3376C>A (p.Leu1126Met)
c.958C>A (p.Leu320Met)
c.*1814C>A (n.*1814C>A)
n.3200C>A
c.1009C>A (p.Leu337Met)
c.3130C>A (p.Leu1044Met)
c.2401C>A (p.Leu801Met)
c.1561C>A (p.Leu521Met)
16g.1523596G>ACA493031851IFT140c.3375C>T (p.Leu1125=)
c.957C>T (p.Leu319=)
c.*1813C>T (n.*1813C>T)
n.3199C>T
c.1008C>T (p.Leu336=)
c.3129C>T (p.Leu1043=)
c.2400C>T (p.Leu800=)
c.1560C>T (p.Leu520=)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.1523596G>CCA493031853IFT140c.3375C>G (p.Leu1125=)
c.957C>G (p.Leu319=)
c.*1813C>G (n.*1813C>G)
n.3199C>G
c.1008C>G (p.Leu336=)
c.3129C>G (p.Leu1043=)
c.2400C>G (p.Leu800=)
c.1560C>G (p.Leu520=)
dbSNP gnomAD v2
16g.1523596G=CA2201697802IFT140c.3375C= (p.Leu1125=)
c.957C= (p.Leu319=)
c.*1813C= (n.*1813C=)
n.3199C=
c.1008C= (p.Leu336=)
c.3129C= (p.Leu1043=)
c.2400C= (p.Leu800=)
c.1560C= (p.Leu520=)
16g.1523596G>TCA493031854IFT140c.3375C>A (p.Leu1125=)
c.957C>A (p.Leu319=)
c.*1813C>A (n.*1813C>A)
n.3199C>A
c.1008C>A (p.Leu336=)
c.3129C>A (p.Leu1043=)
c.2400C>A (p.Leu800=)
c.1560C>A (p.Leu520=)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.1523597A>CCA394225304IFT140c.3374T>G (p.Leu1125Arg)
c.956T>G (p.Leu319Arg)
c.*1812T>G (n.*1812T>G)
n.3198T>G
c.1007T>G (p.Leu336Arg)
c.3128T>G (p.Leu1043Arg)
c.2399T>G (p.Leu800Arg)
c.1559T>G (p.Leu520Arg)
16g.1523597A>GCA394225305IFT140c.3374T>C (p.Leu1125Pro)
c.956T>C (p.Leu319Pro)
c.*1812T>C (n.*1812T>C)
n.3198T>C
c.1007T>C (p.Leu336Pro)
c.3128T>C (p.Leu1043Pro)
c.2399T>C (p.Leu800Pro)
c.1559T>C (p.Leu520Pro)
gnomAD v4
16g.1523597A>TCA394225306IFT140c.3374T>A (p.Leu1125His)
c.956T>A (p.Leu319His)
c.*1812T>A (n.*1812T>A)
n.3198T>A
c.1007T>A (p.Leu336His)
c.3128T>A (p.Leu1043His)
c.2399T>A (p.Leu800His)
c.1559T>A (p.Leu520His)
16g.1523598G>ACA394225307IFT140c.3373C>T (p.Leu1125Phe)
c.955C>T (p.Leu319Phe)
c.*1811C>T (n.*1811C>T)
n.3197C>T
c.1006C>T (p.Leu336Phe)
c.3127C>T (p.Leu1043Phe)
c.2398C>T (p.Leu800Phe)
c.1558C>T (p.Leu520Phe)
ClinVar dbSNP
16g.1523598G>CCA394225308IFT140c.3373C>G (p.Leu1125Val)
c.955C>G (p.Leu319Val)
c.*1811C>G (n.*1811C>G)
n.3197C>G
c.1006C>G (p.Leu336Val)
c.3127C>G (p.Leu1043Val)
c.2398C>G (p.Leu800Val)
c.1558C>G (p.Leu520Val)
16g.1523598G=CA2201697803IFT140c.3373C= (p.Leu1125=)
c.955C= (p.Leu319=)
c.*1811C= (n.*1811C=)
n.3197C=
c.1006C= (p.Leu336=)
c.3127C= (p.Leu1043=)
c.2398C= (p.Leu800=)
c.1558C= (p.Leu520=)
16g.1523598G>TCA394225309IFT140c.3373C>A (p.Leu1125Ile)
c.955C>A (p.Leu319Ile)
c.*1811C>A (n.*1811C>A)
n.3197C>A
c.1006C>A (p.Leu336Ile)
c.3127C>A (p.Leu1043Ile)
c.2398C>A (p.Leu800Ile)
c.1558C>A (p.Leu520Ile)
dbSNP gnomAD v3 gnomAD v4
16g.1523599C>ACA493031857IFT140c.3372G>T (p.Ala1124=)
c.954G>T (p.Ala318=)
c.*1810G>T (n.*1810G>T)
n.3196G>T
c.1005G>T (p.Ala335=)
c.3126G>T (p.Ala1042=)
c.2397G>T (p.Ala799=)
c.1557G>T (p.Ala519=)
dbSNP gnomAD v4
16g.1523599C=CA2201697804IFT140c.3372G= (p.Ala1124=)
c.954G= (p.Ala318=)
c.*1810G= (n.*1810G=)
n.3196G=
c.1005G= (p.Ala335=)
c.3126G= (p.Ala1042=)
c.2397G= (p.Ala799=)
c.1557G= (p.Ala519=)
16g.1523599C>GCA493031860IFT140c.3372G>C (p.Ala1124=)
c.954G>C (p.Ala318=)
c.*1810G>C (n.*1810G>C)
n.3196G>C
c.1005G>C (p.Ala335=)
c.3126G>C (p.Ala1042=)
c.2397G>C (p.Ala799=)
c.1557G>C (p.Ala519=)
16g.1523599C>TCA493031862IFT140c.3372G>A (p.Ala1124=)
c.954G>A (p.Ala318=)
c.*1810G>A (n.*1810G>A)
n.3196G>A
c.1005G>A (p.Ala335=)
c.3126G>A (p.Ala1042=)
c.2397G>A (p.Ala799=)
c.1557G>A (p.Ala519=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1523600G>ACA276677553IFT140c.3371C>T (p.Ala1124Val)
c.953C>T (p.Ala318Val)
c.*1809C>T (n.*1809C>T)
n.3195C>T
c.1004C>T (p.Ala335Val)
c.3125C>T (p.Ala1042Val)
c.2396C>T (p.Ala799Val)
c.1556C>T (p.Ala519Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1523600G>CCA394225310IFT140c.3371C>G (p.Ala1124Gly)
c.953C>G (p.Ala318Gly)
c.*1809C>G (n.*1809C>G)
n.3195C>G
c.1004C>G (p.Ala335Gly)
c.3125C>G (p.Ala1042Gly)
c.2396C>G (p.Ala799Gly)
c.1556C>G (p.Ala519Gly)
gnomAD v4
16g.1523600G=CA2201697805IFT140c.3371C= (p.Ala1124=)
c.953C= (p.Ala318=)
c.*1809C= (n.*1809C=)
n.3195C=
c.1004C= (p.Ala335=)
c.3125C= (p.Ala1042=)
c.2396C= (p.Ala799=)
c.1556C= (p.Ala519=)
16g.1523600G>TCA394225311IFT140c.3371C>A (p.Ala1124Glu)
c.953C>A (p.Ala318Glu)
c.*1809C>A (n.*1809C>A)
n.3195C>A
c.1004C>A (p.Ala335Glu)
c.3125C>A (p.Ala1042Glu)
c.2396C>A (p.Ala799Glu)
c.1556C>A (p.Ala519Glu)
dbSNP gnomAD v2 gnomAD v4
16g.1523601C>ACA394225312IFT140c.3370G>T (p.Ala1124Ser)
c.952G>T (p.Ala318Ser)
c.*1808G>T (n.*1808G>T)
n.3194G>T
c.1003G>T (p.Ala335Ser)
c.3124G>T (p.Ala1042Ser)
c.2395G>T (p.Ala799Ser)
c.1555G>T (p.Ala519Ser)
16g.1523601C>GCA394225313IFT140c.3370G>C (p.Ala1124Pro)
c.952G>C (p.Ala318Pro)
c.*1808G>C (n.*1808G>C)
n.3194G>C
c.1003G>C (p.Ala335Pro)
c.3124G>C (p.Ala1042Pro)
c.2395G>C (p.Ala799Pro)
c.1555G>C (p.Ala519Pro)
16g.1523601C>TCA394225314IFT140c.3370G>A (p.Ala1124Thr)
c.952G>A (p.Ala318Thr)
c.*1808G>A (n.*1808G>A)
n.3194G>A
c.1003G>A (p.Ala335Thr)
c.3124G>A (p.Ala1042Thr)
c.2395G>A (p.Ala799Thr)
c.1555G>A (p.Ala519Thr)
gnomAD v4
16g.1523602A=CA2201697806IFT140c.3369T= (p.Pro1123=)
c.951T= (p.Pro317=)
c.*1807T= (n.*1807T=)
n.3193T=
c.1002T= (p.Pro334=)
c.3123T= (p.Pro1041=)
c.2394T= (p.Pro798=)
c.1554T= (p.Pro518=)
16g.1523602A>CCA493031867IFT140c.3369T>G (p.Pro1123=)
c.951T>G (p.Pro317=)
c.*1807T>G (n.*1807T>G)
n.3193T>G
c.1002T>G (p.Pro334=)
c.3123T>G (p.Pro1041=)
c.2394T>G (p.Pro798=)
c.1554T>G (p.Pro518=)
gnomAD v4
16g.1523602A>GCA7813194IFT140c.3369T>C (p.Pro1123=)
c.951T>C (p.Pro317=)
c.*1807T>C (n.*1807T>C)
n.3193T>C
c.1002T>C (p.Pro334=)
c.3123T>C (p.Pro1041=)
c.2394T>C (p.Pro798=)
c.1554T>C (p.Pro518=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.1523602A>TCA493031869IFT140c.3369T>A (p.Pro1123=)
c.951T>A (p.Pro317=)
c.*1807T>A (n.*1807T>A)
n.3193T>A
c.1002T>A (p.Pro334=)
c.3123T>A (p.Pro1041=)
c.2394T>A (p.Pro798=)
c.1554T>A (p.Pro518=)
16g.1523603G>ACA7813195IFT140c.3368C>T (p.Pro1123Leu)
c.950C>T (p.Pro317Leu)
c.*1806C>T (n.*1806C>T)
n.3192C>T
c.1001C>T (p.Pro334Leu)
c.3122C>T (p.Pro1041Leu)
c.2393C>T (p.Pro798Leu)
c.1553C>T (p.Pro518Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.1523603G>CCA394225315IFT140c.3368C>G (p.Pro1123Arg)
c.950C>G (p.Pro317Arg)
c.*1806C>G (n.*1806C>G)
n.3192C>G
c.1001C>G (p.Pro334Arg)
c.3122C>G (p.Pro1041Arg)
c.2393C>G (p.Pro798Arg)
c.1553C>G (p.Pro518Arg)
16g.1523603G=CA2201697807IFT140c.3368C= (p.Pro1123=)
c.950C= (p.Pro317=)
c.*1806C= (n.*1806C=)
n.3192C=
c.1001C= (p.Pro334=)
c.3122C= (p.Pro1041=)
c.2393C= (p.Pro798=)
c.1553C= (p.Pro518=)
16g.1523603G>TCA394225316IFT140c.3368C>A (p.Pro1123His)
c.950C>A (p.Pro317His)
c.*1806C>A (n.*1806C>A)
n.3192C>A
c.1001C>A (p.Pro334His)
c.3122C>A (p.Pro1041His)
c.2393C>A (p.Pro798His)
c.1553C>A (p.Pro518His)
16g.1523604G>ACA394225317IFT140c.3367C>T (p.Pro1123Ser)
c.949C>T (p.Pro317Ser)
c.*1805C>T (n.*1805C>T)
n.3191C>T
c.1000C>T (p.Pro334Ser)
c.3121C>T (p.Pro1041Ser)
c.2392C>T (p.Pro798Ser)
c.1552C>T (p.Pro518Ser)
16g.1523604G>CCA394225318IFT140c.3367C>G (p.Pro1123Ala)
c.949C>G (p.Pro317Ala)
c.*1805C>G (n.*1805C>G)
n.3191C>G
c.1000C>G (p.Pro334Ala)
c.3121C>G (p.Pro1041Ala)
c.2392C>G (p.Pro798Ala)
c.1552C>G (p.Pro518Ala)
dbSNP gnomAD v3 gnomAD v4
16g.1523604G>TCA394225319IFT140c.3367C>A (p.Pro1123Thr)
c.949C>A (p.Pro317Thr)
c.*1805C>A (n.*1805C>A)
n.3191C>A
c.1000C>A (p.Pro334Thr)
c.3121C>A (p.Pro1041Thr)
c.2392C>A (p.Pro798Thr)
c.1552C>A (p.Pro518Thr)
16g.1523605G>ACA493031873IFT140c.3366C>T (p.Asp1122=)
c.948C>T (p.Asp316=)
c.*1804C>T (n.*1804C>T)
n.3190C>T
c.999C>T (p.Asp333=)
c.3120C>T (p.Asp1040=)
c.2391C>T (p.Asp797=)
c.1551C>T (p.Asp517=)
16g.1523605G>CCA394225320IFT140c.3366C>G (p.Asp1122Glu)
c.948C>G (p.Asp316Glu)
c.*1804C>G (n.*1804C>G)
n.3190C>G
c.999C>G (p.Asp333Glu)
c.3120C>G (p.Asp1040Glu)
c.2391C>G (p.Asp797Glu)
c.1551C>G (p.Asp517Glu)
16g.1523605G>TCA394225321IFT140c.3366C>A (p.Asp1122Glu)
c.948C>A (p.Asp316Glu)
c.*1804C>A (n.*1804C>A)
n.3190C>A
c.999C>A (p.Asp333Glu)
c.3120C>A (p.Asp1040Glu)
c.2391C>A (p.Asp797Glu)
c.1551C>A (p.Asp517Glu)
16g.1523606T>ACA394225322IFT140c.3365A>T (p.Asp1122Val)
c.947A>T (p.Asp316Val)
c.*1803A>T (n.*1803A>T)
n.3189A>T
c.998A>T (p.Asp333Val)
c.3119A>T (p.Asp1040Val)
c.2390A>T (p.Asp797Val)
c.1550A>T (p.Asp517Val)
16g.1523606T>CCA394225323IFT140c.3365A>G (p.Asp1122Gly)
c.947A>G (p.Asp316Gly)
c.*1803A>G (n.*1803A>G)
n.3189A>G
c.998A>G (p.Asp333Gly)
c.3119A>G (p.Asp1040Gly)
c.2390A>G (p.Asp797Gly)
c.1550A>G (p.Asp517Gly)
16g.1523606T>GCA394225324IFT140c.3365A>C (p.Asp1122Ala)
c.947A>C (p.Asp316Ala)
c.*1803A>C (n.*1803A>C)
n.3189A>C
c.998A>C (p.Asp333Ala)
c.3119A>C (p.Asp1040Ala)
c.2390A>C (p.Asp797Ala)
c.1550A>C (p.Asp517Ala)
16g.1523607C>ACA394225325IFT140c.3364G>T (p.Asp1122Tyr)
c.946G>T (p.Asp316Tyr)
c.*1802G>T (n.*1802G>T)
n.3188G>T
c.997G>T (p.Asp333Tyr)
c.3118G>T (p.Asp1040Tyr)
c.2389G>T (p.Asp797Tyr)
c.1549G>T (p.Asp517Tyr)
16g.1523607C>GCA394225326IFT140c.3364G>C (p.Asp1122His)
c.946G>C (p.Asp316His)
c.*1802G>C (n.*1802G>C)
n.3188G>C
c.997G>C (p.Asp333His)
c.3118G>C (p.Asp1040His)
c.2389G>C (p.Asp797His)
c.1549G>C (p.Asp517His)
16g.1523607C>TCA394225327IFT140c.3364G>A (p.Asp1122Asn)
c.946G>A (p.Asp316Asn)
c.*1802G>A (n.*1802G>A)
n.3188G>A
c.997G>A (p.Asp333Asn)
c.3118G>A (p.Asp1040Asn)
c.2389G>A (p.Asp797Asn)
c.1549G>A (p.Asp517Asn)
ClinVar
16g.1523608T>ACA493031882IFT140c.3363A>T (p.Ser1121=)
c.945A>T (p.Ser315=)
c.*1801A>T (n.*1801A>T)
n.3187A>T
c.996A>T (p.Ser332=)
c.3117A>T (p.Ser1039=)
c.2388A>T (p.Ser796=)
c.1548A>T (p.Ser516=)
16g.1523608T>CCA493031884IFT140c.3363A>G (p.Ser1121=)
c.945A>G (p.Ser315=)
c.*1801A>G (n.*1801A>G)
n.3187A>G
c.996A>G (p.Ser332=)
c.3117A>G (p.Ser1039=)
c.2388A>G (p.Ser796=)
c.1548A>G (p.Ser516=)
gnomAD v4
16g.1523608T>GCA493031887IFT140c.3363A>C (p.Ser1121=)
c.945A>C (p.Ser315=)
c.*1801A>C (n.*1801A>C)
n.3187A>C
c.996A>C (p.Ser332=)
c.3117A>C (p.Ser1039=)
c.2388A>C (p.Ser796=)
c.1548A>C (p.Ser516=)
16g.1523609G>ACA394225330IFT140c.3362C>T (p.Ser1121Leu)
c.944C>T (p.Ser315Leu)
c.*1800C>T (n.*1800C>T)
n.3186C>T
c.995C>T (p.Ser332Leu)
c.3116C>T (p.Ser1039Leu)
c.2387C>T (p.Ser796Leu)
c.1547C>T (p.Ser516Leu)
16g.1523609G>CCA394225329IFT140c.3362C>G (p.Ser1121Ter)
c.944C>G (p.Ser315Ter)
c.*1800C>G (n.*1800C>G)
n.3186C>G
c.995C>G (p.Ser332Ter)
c.3116C>G (p.Ser1039Ter)
c.2387C>G (p.Ser796Ter)
c.1547C>G (p.Ser516Ter)
16g.1523609G>TCA394225328IFT140c.3362C>A (p.Ser1121Ter)
c.944C>A (p.Ser315Ter)
c.*1800C>A (n.*1800C>A)
n.3186C>A
c.995C>A (p.Ser332Ter)
c.3116C>A (p.Ser1039Ter)
c.2387C>A (p.Ser796Ter)
c.1547C>A (p.Ser516Ter)
16g.1523610A>CCA394225331IFT140c.3361T>G (p.Ser1121Ala)
c.943T>G (p.Ser315Ala)
c.*1799T>G (n.*1799T>G)
n.3185T>G
c.994T>G (p.Ser332Ala)
c.3115T>G (p.Ser1039Ala)
c.2386T>G (p.Ser796Ala)
c.1546T>G (p.Ser516Ala)
16g.1523610A>GCA394225332IFT140c.3361T>C (p.Ser1121Pro)
c.943T>C (p.Ser315Pro)
c.*1799T>C (n.*1799T>C)
n.3185T>C
c.994T>C (p.Ser332Pro)
c.3115T>C (p.Ser1039Pro)
c.2386T>C (p.Ser796Pro)
c.1546T>C (p.Ser516Pro)
16g.1523610A>TCA394225333IFT140c.3361T>A (p.Ser1121Thr)
c.943T>A (p.Ser315Thr)
c.*1799T>A (n.*1799T>A)
n.3185T>A
c.994T>A (p.Ser332Thr)
c.3115T>A (p.Ser1039Thr)
c.2386T>A (p.Ser796Thr)
c.1546T>A (p.Ser516Thr)
16g.1523611C>ACA493031894IFT140c.3360G>T (p.Thr1120=)
c.942G>T (p.Thr314=)
c.*1798G>T (n.*1798G>T)
n.3184G>T
c.993G>T (p.Thr331=)
c.3114G>T (p.Thr1038=)
c.2385G>T (p.Thr795=)
c.1545G>T (p.Thr515=)
16g.1523611C=CA2201697808IFT140c.3360G= (p.Thr1120=)
c.942G= (p.Thr314=)
c.*1798G= (n.*1798G=)
n.3184G=
c.993G= (p.Thr331=)
c.3114G= (p.Thr1038=)
c.2385G= (p.Thr795=)
c.1545G= (p.Thr515=)
16g.1523611C>GCA493031893IFT140c.3360G>C (p.Thr1120=)
c.942G>C (p.Thr314=)
c.*1798G>C (n.*1798G>C)
n.3184G>C
c.993G>C (p.Thr331=)
c.3114G>C (p.Thr1038=)
c.2385G>C (p.Thr795=)
c.1545G>C (p.Thr515=)
16g.1523611C>TCA7813196IFT140c.3360G>A (p.Thr1120=)
c.942G>A (p.Thr314=)
c.*1798G>A (n.*1798G>A)
n.3184G>A
c.993G>A (p.Thr331=)
c.3114G>A (p.Thr1038=)
c.2385G>A (p.Thr795=)
c.1545G>A (p.Thr515=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1523612G>ACA7813197IFT140c.3359C>T (p.Thr1120Met)
c.941C>T (p.Thr314Met)
c.*1797C>T (n.*1797C>T)
n.3183C>T
c.992C>T (p.Thr331Met)
c.3113C>T (p.Thr1038Met)
c.2384C>T (p.Thr795Met)
c.1544C>T (p.Thr515Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.1523612G>CCA394225334IFT140c.3359C>G (p.Thr1120Arg)
c.941C>G (p.Thr314Arg)
c.*1797C>G (n.*1797C>G)
n.3183C>G
c.992C>G (p.Thr331Arg)
c.3113C>G (p.Thr1038Arg)
c.2384C>G (p.Thr795Arg)
c.1544C>G (p.Thr515Arg)
16g.1523612G=CA2201697809IFT140c.3359C= (p.Thr1120=)
c.941C= (p.Thr314=)
c.*1797C= (n.*1797C=)
n.3183C=
c.992C= (p.Thr331=)
c.3113C= (p.Thr1038=)
c.2384C= (p.Thr795=)
c.1544C= (p.Thr515=)
16g.1523612G>TCA394225335IFT140c.3359C>A (p.Thr1120Lys)
c.941C>A (p.Thr314Lys)
c.*1797C>A (n.*1797C>A)
n.3183C>A
c.992C>A (p.Thr331Lys)
c.3113C>A (p.Thr1038Lys)
c.2384C>A (p.Thr795Lys)
c.1544C>A (p.Thr515Lys)
16g.1523613T>ACA394225336IFT140c.3358A>T (p.Thr1120Ser)
c.940A>T (p.Thr314Ser)
c.*1796A>T (n.*1796A>T)
n.3182A>T
c.991A>T (p.Thr331Ser)
c.3112A>T (p.Thr1038Ser)
c.2383A>T (p.Thr795Ser)
c.1543A>T (p.Thr515Ser)
16g.1523613T>CCA394225337IFT140c.3358A>G (p.Thr1120Ala)
c.940A>G (p.Thr314Ala)
c.*1796A>G (n.*1796A>G)
n.3182A>G
c.991A>G (p.Thr331Ala)
c.3112A>G (p.Thr1038Ala)
c.2383A>G (p.Thr795Ala)
c.1543A>G (p.Thr515Ala)
16g.1523613T>GCA394225338IFT140c.3358A>C (p.Thr1120Pro)
c.940A>C (p.Thr314Pro)
c.*1796A>C (n.*1796A>C)
n.3182A>C
c.991A>C (p.Thr331Pro)
c.3112A>C (p.Thr1038Pro)
c.2383A>C (p.Thr795Pro)
c.1543A>C (p.Thr515Pro)
16g.1523614C>ACA394225339IFT140c.3357G>T (p.Glu1119Asp)
c.939G>T (p.Glu313Asp)
c.*1795G>T (n.*1795G>T)
n.3181G>T
c.990G>T (p.Glu330Asp)
c.3111G>T (p.Glu1037Asp)
c.2382G>T (p.Glu794Asp)
c.1542G>T (p.Glu514Asp)
16g.1523614C>GCA394225340IFT140c.3357G>C (p.Glu1119Asp)
c.939G>C (p.Glu313Asp)
c.*1795G>C (n.*1795G>C)
n.3181G>C
c.990G>C (p.Glu330Asp)
c.3111G>C (p.Glu1037Asp)
c.2382G>C (p.Glu794Asp)
c.1542G>C (p.Glu514Asp)
16g.1523614C>TCA493031899IFT140c.3357G>A (p.Glu1119=)
c.939G>A (p.Glu313=)
c.*1795G>A (n.*1795G>A)
n.3181G>A
c.990G>A (p.Glu330=)
c.3111G>A (p.Glu1037=)
c.2382G>A (p.Glu794=)
c.1542G>A (p.Glu514=)
16g.1523615T>ACA394225342IFT140c.3356A>T (p.Glu1119Val)
c.938A>T (p.Glu313Val)
c.*1794A>T (n.*1794A>T)
n.3180A>T
c.989A>T (p.Glu330Val)
c.3110A>T (p.Glu1037Val)
c.2381A>T (p.Glu794Val)
c.1541A>T (p.Glu514Val)
16g.1523615T>CCA394225343IFT140c.3356A>G (p.Glu1119Gly)
c.938A>G (p.Glu313Gly)
c.*1794A>G (n.*1794A>G)
n.3180A>G
c.989A>G (p.Glu330Gly)
c.3110A>G (p.Glu1037Gly)
c.2381A>G (p.Glu794Gly)
c.1541A>G (p.Glu514Gly)
gnomAD v4
16g.1523615T>GCA394225341IFT140c.3356A>C (p.Glu1119Ala)
c.938A>C (p.Glu313Ala)
c.*1794A>C (n.*1794A>C)
n.3180A>C
c.989A>C (p.Glu330Ala)
c.3110A>C (p.Glu1037Ala)
c.2381A>C (p.Glu794Ala)
c.1541A>C (p.Glu514Ala)
16g.1523616C>ACA394225344IFT140c.3355G>T (p.Glu1119Ter)
c.937G>T (p.Glu313Ter)
c.*1793G>T (n.*1793G>T)
n.3179G>T
c.988G>T (p.Glu330Ter)
c.3109G>T (p.Glu1037Ter)
c.2380G>T (p.Glu794Ter)
c.1540G>T (p.Glu514Ter)
16g.1523616C=CA2201697810IFT140c.3355G= (p.Glu1119=)
c.937G= (p.Glu313=)
c.*1793G= (n.*1793G=)
n.3179G=
c.988G= (p.Glu330=)
c.3109G= (p.Glu1037=)
c.2380G= (p.Glu794=)
c.1540G= (p.Glu514=)
16g.1523616C>GCA394225345IFT140c.3355G>C (p.Glu1119Gln)
c.937G>C (p.Glu313Gln)
c.*1793G>C (n.*1793G>C)
n.3179G>C
c.988G>C (p.Glu330Gln)
c.3109G>C (p.Glu1037Gln)
c.2380G>C (p.Glu794Gln)
c.1540G>C (p.Glu514Gln)
16g.1523616C>TCA276677579IFT140c.3355G>A (p.Glu1119Lys)
c.937G>A (p.Glu313Lys)
c.*1793G>A (n.*1793G>A)
n.3179G>A
c.988G>A (p.Glu330Lys)
c.3109G>A (p.Glu1037Lys)
c.2380G>A (p.Glu794Lys)
c.1540G>A (p.Glu514Lys)
dbSNP
16g.1523617A>CCA394225346IFT140c.3354T>G (p.Asp1118Glu)
c.936T>G (p.Asp312Glu)
c.*1792T>G (n.*1792T>G)
n.3178T>G
c.987T>G (p.Asp329Glu)
c.3108T>G (p.Asp1036Glu)
c.2379T>G (p.Asp793Glu)
c.1539T>G (p.Asp513Glu)
16g.1523617A>GCA493031904IFT140c.3354T>C (p.Asp1118=)
c.936T>C (p.Asp312=)
c.*1792T>C (n.*1792T>C)
n.3178T>C
c.987T>C (p.Asp329=)
c.3108T>C (p.Asp1036=)
c.2379T>C (p.Asp793=)
c.1539T>C (p.Asp513=)
16g.1523617A>TCA394225347IFT140c.3354T>A (p.Asp1118Glu)
c.936T>A (p.Asp312Glu)
c.*1792T>A (n.*1792T>A)
n.3178T>A
c.987T>A (p.Asp329Glu)
c.3108T>A (p.Asp1036Glu)
c.2379T>A (p.Asp793Glu)
c.1539T>A (p.Asp513Glu)
16g.1523618T>ACA394225350IFT140c.3353A>T (p.Asp1118Val)
c.935A>T (p.Asp312Val)
c.*1791A>T (n.*1791A>T)
n.3177A>T
c.986A>T (p.Asp329Val)
c.3107A>T (p.Asp1036Val)
c.2378A>T (p.Asp793Val)
c.1538A>T (p.Asp513Val)
16g.1523618T>CCA394225348IFT140c.3353A>G (p.Asp1118Gly)
c.935A>G (p.Asp312Gly)
c.*1791A>G (n.*1791A>G)
n.3177A>G
c.986A>G (p.Asp329Gly)
c.3107A>G (p.Asp1036Gly)
c.2378A>G (p.Asp793Gly)
c.1538A>G (p.Asp513Gly)
16g.1523618T>GCA394225349IFT140c.3353A>C (p.Asp1118Ala)
c.935A>C (p.Asp312Ala)
c.*1791A>C (n.*1791A>C)
n.3177A>C
c.986A>C (p.Asp329Ala)
c.3107A>C (p.Asp1036Ala)
c.2378A>C (p.Asp793Ala)
c.1538A>C (p.Asp513Ala)
16g.1523619C>ACA7813198IFT140c.3352G>T (p.Asp1118Tyr)
c.934G>T (p.Asp312Tyr)
c.*1790G>T (n.*1790G>T)
n.3176G>T
c.985G>T (p.Asp329Tyr)
c.3106G>T (p.Asp1036Tyr)
c.2377G>T (p.Asp793Tyr)
c.1537G>T (p.Asp513Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.1523619C=CA2201697811IFT140c.3352G= (p.Asp1118=)
c.934G= (p.Asp312=)
c.*1790G= (n.*1790G=)
n.3176G=
c.985G= (p.Asp329=)
c.3106G= (p.Asp1036=)
c.2377G= (p.Asp793=)
c.1537G= (p.Asp513=)
16g.1523619C>GCA394225351IFT140c.3352G>C (p.Asp1118His)
c.934G>C (p.Asp312His)
c.*1790G>C (n.*1790G>C)
n.3176G>C
c.985G>C (p.Asp329His)
c.3106G>C (p.Asp1036His)
c.2377G>C (p.Asp793His)
c.1537G>C (p.Asp513His)
16g.1523619C>TCA394225352IFT140c.3352G>A (p.Asp1118Asn)
c.934G>A (p.Asp312Asn)
c.*1790G>A (n.*1790G>A)
n.3176G>A
c.985G>A (p.Asp329Asn)
c.3106G>A (p.Asp1036Asn)
c.2377G>A (p.Asp793Asn)
c.1537G>A (p.Asp513Asn)
16g.1523620C>ACA493031911IFT140c.3351G>T (p.Leu1117=)
c.933G>T (p.Leu311=)
c.*1789G>T (n.*1789G>T)
n.3175G>T
c.984G>T (p.Leu328=)
c.3105G>T (p.Leu1035=)
c.2376G>T (p.Leu792=)
c.1536G>T (p.Leu512=)
16g.1523620C>GCA493031912IFT140c.3351G>C (p.Leu1117=)
c.933G>C (p.Leu311=)
c.*1789G>C (n.*1789G>C)
n.3175G>C
c.984G>C (p.Leu328=)
c.3105G>C (p.Leu1035=)
c.2376G>C (p.Leu792=)
c.1536G>C (p.Leu512=)
16g.1523620C>TCA493031914IFT140c.3351G>A (p.Leu1117=)
c.933G>A (p.Leu311=)
c.*1789G>A (n.*1789G>A)
n.3175G>A
c.984G>A (p.Leu328=)
c.3105G>A (p.Leu1035=)
c.2376G>A (p.Leu792=)
c.1536G>A (p.Leu512=)
16g.1523621A=CA2201697812IFT140c.3350T= (p.Leu1117=)
c.932T= (p.Leu311=)
c.*1788T= (n.*1788T=)
n.3174T=
c.983T= (p.Leu328=)
c.3104T= (p.Leu1035=)
c.2375T= (p.Leu792=)
c.1535T= (p.Leu512=)
16g.1523621A>CCA394225353IFT140c.3350T>G (p.Leu1117Arg)
c.932T>G (p.Leu311Arg)
c.*1788T>G (n.*1788T>G)
n.3174T>G
c.983T>G (p.Leu328Arg)
c.3104T>G (p.Leu1035Arg)
c.2375T>G (p.Leu792Arg)
c.1535T>G (p.Leu512Arg)
16g.1523621A>GCA7813199IFT140c.3350T>C (p.Leu1117Pro)
c.932T>C (p.Leu311Pro)
c.*1788T>C (n.*1788T>C)
n.3174T>C
c.983T>C (p.Leu328Pro)
c.3104T>C (p.Leu1035Pro)
c.2375T>C (p.Leu792Pro)
c.1535T>C (p.Leu512Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1523621A>TCA394225354IFT140c.3350T>A (p.Leu1117Gln)
c.932T>A (p.Leu311Gln)
c.*1788T>A (n.*1788T>A)
n.3174T>A
c.983T>A (p.Leu328Gln)
c.3104T>A (p.Leu1035Gln)
c.2375T>A (p.Leu792Gln)
c.1535T>A (p.Leu512Gln)
gnomAD v4
16g.1523622G>ACA493031919IFT140c.3349C>T (p.Leu1117=)
c.931C>T (p.Leu311=)
c.*1787C>T (n.*1787C>T)
n.3173C>T
c.982C>T (p.Leu328=)
c.3103C>T (p.Leu1035=)
c.2374C>T (p.Leu792=)
c.1534C>T (p.Leu512=)
16g.1523622G>CCA394225356IFT140c.3349C>G (p.Leu1117Val)
c.931C>G (p.Leu311Val)
c.*1787C>G (n.*1787C>G)
n.3173C>G
c.982C>G (p.Leu328Val)
c.3103C>G (p.Leu1035Val)
c.2374C>G (p.Leu792Val)
c.1534C>G (p.Leu512Val)
16g.1523622G>TCA394225355IFT140c.3349C>A (p.Leu1117Met)
c.931C>A (p.Leu311Met)
c.*1787C>A (n.*1787C>A)
n.3173C>A
c.982C>A (p.Leu328Met)
c.3103C>A (p.Leu1035Met)
c.2374C>A (p.Leu792Met)
c.1534C>A (p.Leu512Met)
16g.1523623G>ACA493031920IFT140c.3348C>T (p.Asp1116=)
c.930C>T (p.Asp310=)
c.*1786C>T (n.*1786C>T)
n.3172C>T
c.981C>T (p.Asp327=)
c.3102C>T (p.Asp1034=)
c.2373C>T (p.Asp791=)
c.1533C>T (p.Asp511=)
gnomAD v4
16g.1523623G>CCA394225357IFT140c.3348C>G (p.Asp1116Glu)
c.930C>G (p.Asp310Glu)
c.*1786C>G (n.*1786C>G)
n.3172C>G
c.981C>G (p.Asp327Glu)
c.3102C>G (p.Asp1034Glu)
c.2373C>G (p.Asp791Glu)
c.1533C>G (p.Asp511Glu)
16g.1523623G=CA2201697813IFT140c.3348C= (p.Asp1116=)
c.930C= (p.Asp310=)
c.*1786C= (n.*1786C=)
n.3172C=
c.981C= (p.Asp327=)
c.3102C= (p.Asp1034=)
c.2373C= (p.Asp791=)
c.1533C= (p.Asp511=)
16g.1523623G>TCA394225358IFT140c.3348C>A (p.Asp1116Glu)
c.930C>A (p.Asp310Glu)
c.*1786C>A (n.*1786C>A)
n.3172C>A
c.981C>A (p.Asp327Glu)
c.3102C>A (p.Asp1034Glu)
c.2373C>A (p.Asp791Glu)
c.1533C>A (p.Asp511Glu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1523624T>ACA394225359IFT140c.3347A>T (p.Asp1116Val)
c.929A>T (p.Asp310Val)
c.*1785A>T (n.*1785A>T)
n.3171A>T
c.980A>T (p.Asp327Val)
c.3101A>T (p.Asp1034Val)
c.2372A>T (p.Asp791Val)
c.1532A>T (p.Asp511Val)
16g.1523624T>CCA7813200IFT140c.3347A>G (p.Asp1116Gly)
c.929A>G (p.Asp310Gly)
c.*1785A>G (n.*1785A>G)
n.3171A>G
c.980A>G (p.Asp327Gly)
c.3101A>G (p.Asp1034Gly)
c.2372A>G (p.Asp791Gly)
c.1532A>G (p.Asp511Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.1523624T>GCA394225360IFT140c.3347A>C (p.Asp1116Ala)
c.929A>C (p.Asp310Ala)
c.*1785A>C (n.*1785A>C)
n.3171A>C
c.980A>C (p.Asp327Ala)
c.3101A>C (p.Asp1034Ala)
c.2372A>C (p.Asp791Ala)
c.1532A>C (p.Asp511Ala)
16g.1523624T=CA2201697814IFT140c.3347A= (p.Asp1116=)
c.929A= (p.Asp310=)
c.*1785A= (n.*1785A=)
n.3171A=
c.980A= (p.Asp327=)
c.3101A= (p.Asp1034=)
c.2372A= (p.Asp791=)
c.1532A= (p.Asp511=)
16g.1523625C>ACA394225361IFT140c.3346G>T (p.Asp1116Tyr)
c.928G>T (p.Asp310Tyr)
c.*1784G>T (n.*1784G>T)
n.3170G>T
c.979G>T (p.Asp327Tyr)
c.3100G>T (p.Asp1034Tyr)
c.2371G>T (p.Asp791Tyr)
c.1531G>T (p.Asp511Tyr)
16g.1523625C=CA2201697815IFT140c.3346G= (p.Asp1116=)
c.928G= (p.Asp310=)
c.*1784G= (n.*1784G=)
n.3170G=
c.979G= (p.Asp327=)
c.3100G= (p.Asp1034=)
c.2371G= (p.Asp791=)
c.1531G= (p.Asp511=)
16g.1523625C>GCA394225363IFT140c.3346G>C (p.Asp1116His)
c.928G>C (p.Asp310His)
c.*1784G>C (n.*1784G>C)
n.3170G>C
c.979G>C (p.Asp327His)
c.3100G>C (p.Asp1034His)
c.2371G>C (p.Asp791His)
c.1531G>C (p.Asp511His)
16g.1523625C>TCA394225362IFT140c.3346G>A (p.Asp1116Asn)
c.928G>A (p.Asp310Asn)
c.*1784G>A (n.*1784G>A)
n.3170G>A
c.979G>A (p.Asp327Asn)
c.3100G>A (p.Asp1034Asn)
c.2371G>A (p.Asp791Asn)
c.1531G>A (p.Asp511Asn)
dbSNP gnomAD v3 gnomAD v4
16g.1523626C>ACA394225364IFT140c.3345G>T (p.Glu1115Asp)
c.927G>T (p.Glu309Asp)
c.*1783G>T (n.*1783G>T)
n.3169G>T
c.978G>T (p.Glu326Asp)
c.3099G>T (p.Glu1033Asp)
c.2370G>T (p.Glu790Asp)
c.1530G>T (p.Glu510Asp)
16g.1523626C=CA2201697816IFT140c.3345G= (p.Glu1115=)
c.927G= (p.Glu309=)
c.*1783G= (n.*1783G=)
n.3169G=
c.978G= (p.Glu326=)
c.3099G= (p.Glu1033=)
c.2370G= (p.Glu790=)
c.1530G= (p.Glu510=)
16g.1523626C>GCA394225365IFT140c.3345G>C (p.Glu1115Asp)
c.927G>C (p.Glu309Asp)
c.*1783G>C (n.*1783G>C)
n.3169G>C
c.978G>C (p.Glu326Asp)
c.3099G>C (p.Glu1033Asp)
c.2370G>C (p.Glu790Asp)
c.1530G>C (p.Glu510Asp)
dbSNP gnomAD v3 gnomAD v4
16g.1523626C>TCA493031927IFT140c.3345G>A (p.Glu1115=)
c.927G>A (p.Glu309=)
c.*1783G>A (n.*1783G>A)
n.3169G>A
c.978G>A (p.Glu326=)
c.3099G>A (p.Glu1033=)
c.2370G>A (p.Glu790=)
c.1530G>A (p.Glu510=)
dbSNP gnomAD v2 gnomAD v4
16g.1523627T>ACA394225366IFT140c.3344A>T (p.Glu1115Val)
c.926A>T (p.Glu309Val)
c.*1782A>T (n.*1782A>T)
n.3168A>T
c.977A>T (p.Glu326Val)
c.3098A>T (p.Glu1033Val)
c.2369A>T (p.Glu790Val)
c.1529A>T (p.Glu510Val)
16g.1523627T>CCA394225367IFT140c.3344A>G (p.Glu1115Gly)
c.926A>G (p.Glu309Gly)
c.*1782A>G (n.*1782A>G)
n.3168A>G
c.977A>G (p.Glu326Gly)
c.3098A>G (p.Glu1033Gly)
c.2369A>G (p.Glu790Gly)
c.1529A>G (p.Glu510Gly)
16g.1523627T>GCA394225368IFT140c.3344A>C (p.Glu1115Ala)
c.926A>C (p.Glu309Ala)
c.*1782A>C (n.*1782A>C)
n.3168A>C
c.977A>C (p.Glu326Ala)
c.3098A>C (p.Glu1033Ala)
c.2369A>C (p.Glu790Ala)
c.1529A>C (p.Glu510Ala)
16g.1523628C>ACA394225369IFT140c.3343G>T (p.Glu1115Ter)
c.925G>T (p.Glu309Ter)
c.*1781G>T (n.*1781G>T)
n.3167G>T
c.976G>T (p.Glu326Ter)
c.3097G>T (p.Glu1033Ter)
c.2368G>T (p.Glu790Ter)
c.1528G>T (p.Glu510Ter)
16g.1523628C>GCA394225370IFT140c.3343G>C (p.Glu1115Gln)
c.925G>C (p.Glu309Gln)
c.*1781G>C (n.*1781G>C)
n.3167G>C
c.976G>C (p.Glu326Gln)
c.3097G>C (p.Glu1033Gln)
c.2368G>C (p.Glu790Gln)
c.1528G>C (p.Glu510Gln)
16g.1523628C>TCA394225371IFT140c.3343G>A (p.Glu1115Lys)
c.925G>A (p.Glu309Lys)
c.*1781G>A (n.*1781G>A)
n.3167G>A
c.976G>A (p.Glu326Lys)
c.3097G>A (p.Glu1033Lys)
c.2368G>A (p.Glu790Lys)
c.1528G>A (p.Glu510Lys)
16g.1523629T>ACA493031935IFT140c.3342A>T (p.Ala1114=)
c.924A>T (p.Ala308=)
c.*1780A>T (n.*1780A>T)
n.3166A>T
c.975A>T (p.Ala325=)
c.3096A>T (p.Ala1032=)
c.2367A>T (p.Ala789=)
c.1527A>T (p.Ala509=)
16g.1523629T>CCA493031938IFT140c.3342A>G (p.Ala1114=)
c.924A>G (p.Ala308=)
c.*1780A>G (n.*1780A>G)
n.3166A>G
c.975A>G (p.Ala325=)
c.3096A>G (p.Ala1032=)
c.2367A>G (p.Ala789=)
c.1527A>G (p.Ala509=)
16g.1523629T>GCA493031940IFT140c.3342A>C (p.Ala1114=)
c.924A>C (p.Ala308=)
c.*1780A>C (n.*1780A>C)
n.3166A>C
c.975A>C (p.Ala325=)
c.3096A>C (p.Ala1032=)
c.2367A>C (p.Ala789=)
c.1527A>C (p.Ala509=)
16g.1523630G>ACA394225372IFT140c.3341C>T (p.Ala1114Val)
c.923C>T (p.Ala308Val)
c.*1779C>T (n.*1779C>T)
n.3165C>T
c.974C>T (p.Ala325Val)
c.3095C>T (p.Ala1032Val)
c.2366C>T (p.Ala789Val)
c.1526C>T (p.Ala509Val)
dbSNP gnomAD v4
16g.1523630G>CCA394225373IFT140c.3341C>G (p.Ala1114Gly)
c.923C>G (p.Ala308Gly)
c.*1779C>G (n.*1779C>G)
n.3165C>G
c.974C>G (p.Ala325Gly)
c.3095C>G (p.Ala1032Gly)
c.2366C>G (p.Ala789Gly)
c.1526C>G (p.Ala509Gly)
16g.1523630G=CA2201697817IFT140c.3341C= (p.Ala1114=)
c.923C= (p.Ala308=)
c.*1779C= (n.*1779C=)
n.3165C=
c.974C= (p.Ala325=)
c.3095C= (p.Ala1032=)
c.2366C= (p.Ala789=)
c.1526C= (p.Ala509=)
16g.1523630G>TCA394225374IFT140c.3341C>A (p.Ala1114Glu)
c.923C>A (p.Ala308Glu)
c.*1779C>A (n.*1779C>A)
n.3165C>A
c.974C>A (p.Ala325Glu)
c.3095C>A (p.Ala1032Glu)
c.2366C>A (p.Ala789Glu)
c.1526C>A (p.Ala509Glu)
16g.1523631C>ACA394225375IFT140c.3340G>T (p.Ala1114Ser)
c.922G>T (p.Ala308Ser)
c.*1778G>T (n.*1778G>T)
n.3164G>T
c.973G>T (p.Ala325Ser)
c.3094G>T (p.Ala1032Ser)
c.2365G>T (p.Ala789Ser)
c.1525G>T (p.Ala509Ser)
16g.1523631C>GCA394225376IFT140c.3340G>C (p.Ala1114Pro)
c.922G>C (p.Ala308Pro)
c.*1778G>C (n.*1778G>C)
n.3164G>C
c.973G>C (p.Ala325Pro)
c.3094G>C (p.Ala1032Pro)
c.2365G>C (p.Ala789Pro)
c.1525G>C (p.Ala509Pro)
16g.1523631C>TCA394225377IFT140c.3340G>A (p.Ala1114Thr)
c.922G>A (p.Ala308Thr)
c.*1778G>A (n.*1778G>A)
n.3164G>A
c.973G>A (p.Ala325Thr)
c.3094G>A (p.Ala1032Thr)
c.2365G>A (p.Ala789Thr)
c.1525G>A (p.Ala509Thr)
16g.1523632T>ACA493031947IFT140c.3339A>T (p.Ile1113=)
c.921A>T (p.Ile307=)
c.*1777A>T (n.*1777A>T)
n.3163A>T
c.972A>T (p.Ile324=)
c.3093A>T (p.Ile1031=)
c.2364A>T (p.Ile788=)
c.1524A>T (p.Ile508=)
16g.1523632T>CCA394225378IFT140c.3339A>G (p.Ile1113Met)
c.921A>G (p.Ile307Met)
c.*1777A>G (n.*1777A>G)
n.3163A>G
c.972A>G (p.Ile324Met)
c.3093A>G (p.Ile1031Met)
c.2364A>G (p.Ile788Met)
c.1524A>G (p.Ile508Met)
gnomAD v4
16g.1523632T>GCA493031944IFT140c.3339A>C (p.Ile1113=)
c.921A>C (p.Ile307=)
c.*1777A>C (n.*1777A>C)
n.3163A>C
c.972A>C (p.Ile324=)
c.3093A>C (p.Ile1031=)
c.2364A>C (p.Ile788=)
c.1524A>C (p.Ile508=)
16g.1523633A=CA2201697818IFT140c.3338T= (p.Ile1113=)
c.920T= (p.Ile307=)
c.*1776T= (n.*1776T=)
n.3162T=
c.971T= (p.Ile324=)
c.3092T= (p.Ile1031=)
c.2363T= (p.Ile788=)
c.1523T= (p.Ile508=)
16g.1523633A>CCA394225379IFT140c.3338T>G (p.Ile1113Arg)
c.920T>G (p.Ile307Arg)
c.*1776T>G (n.*1776T>G)
n.3162T>G
c.971T>G (p.Ile324Arg)
c.3092T>G (p.Ile1031Arg)
c.2363T>G (p.Ile788Arg)
c.1523T>G (p.Ile508Arg)
16g.1523633A>GCA394225381IFT140c.3338T>C (p.Ile1113Thr)
c.920T>C (p.Ile307Thr)
c.*1776T>C (n.*1776T>C)
n.3162T>C
c.971T>C (p.Ile324Thr)
c.3092T>C (p.Ile1031Thr)
c.2363T>C (p.Ile788Thr)
c.1523T>C (p.Ile508Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.1523633A>TCA394225380IFT140c.3338T>A (p.Ile1113Lys)
c.920T>A (p.Ile307Lys)
c.*1776T>A (n.*1776T>A)
n.3162T>A
c.971T>A (p.Ile324Lys)
c.3092T>A (p.Ile1031Lys)
c.2363T>A (p.Ile788Lys)
c.1523T>A (p.Ile508Lys)
16g.1523634T>ACA394225382IFT140c.3337A>T (p.Ile1113Leu)
c.919A>T (p.Ile307Leu)
c.*1775A>T (n.*1775A>T)
n.3161A>T
c.970A>T (p.Ile324Leu)
c.3091A>T (p.Ile1031Leu)
c.2362A>T (p.Ile788Leu)
c.1522A>T (p.Ile508Leu)
16g.1523634T>CCA394225383IFT140c.3337A>G (p.Ile1113Val)
c.919A>G (p.Ile307Val)
c.*1775A>G (n.*1775A>G)
n.3161A>G
c.970A>G (p.Ile324Val)
c.3091A>G (p.Ile1031Val)
c.2362A>G (p.Ile788Val)
c.1522A>G (p.Ile508Val)
gnomAD v4
16g.1523634T>GCA394225384IFT140c.3337A>C (p.Ile1113Leu)
c.919A>C (p.Ile307Leu)
c.*1775A>C (n.*1775A>C)
n.3161A>C
c.970A>C (p.Ile324Leu)
c.3091A>C (p.Ile1031Leu)
c.2362A>C (p.Ile788Leu)
c.1522A>C (p.Ile508Leu)
16g.1523635G>ACA7813201IFT140c.3336C>T (p.Leu1112=)
c.918C>T (p.Leu306=)
c.*1774C>T (n.*1774C>T)
n.3160C>T
c.969C>T (p.Leu323=)
c.3090C>T (p.Leu1030=)
c.2361C>T (p.Leu787=)
c.1521C>T (p.Leu507=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1523635G>CCA493031953IFT140c.3336C>G (p.Leu1112=)
c.918C>G (p.Leu306=)
c.*1774C>G (n.*1774C>G)
n.3160C>G
c.969C>G (p.Leu323=)
c.3090C>G (p.Leu1030=)
c.2361C>G (p.Leu787=)
c.1521C>G (p.Leu507=)
16g.1523635G=CA2201697819IFT140c.3336C= (p.Leu1112=)
c.918C= (p.Leu306=)
c.*1774C= (n.*1774C=)
n.3160C=
c.969C= (p.Leu323=)
c.3090C= (p.Leu1030=)
c.2361C= (p.Leu787=)
c.1521C= (p.Leu507=)
16g.1523635G>TCA493031950IFT140c.3336C>A (p.Leu1112=)
c.918C>A (p.Leu306=)
c.*1774C>A (n.*1774C>A)
n.3160C>A
c.969C>A (p.Leu323=)
c.3090C>A (p.Leu1030=)
c.2361C>A (p.Leu787=)
c.1521C>A (p.Leu507=)
16g.1523636A>CCA394225385IFT140c.3335T>G (p.Leu1112Arg)
c.917T>G (p.Leu306Arg)
c.*1773T>G (n.*1773T>G)
n.3159T>G
c.968T>G (p.Leu323Arg)
c.3089T>G (p.Leu1030Arg)
c.2360T>G (p.Leu787Arg)
c.1520T>G (p.Leu507Arg)
16g.1523636A>GCA394225386IFT140c.3335T>C (p.Leu1112Pro)
c.917T>C (p.Leu306Pro)
c.*1773T>C (n.*1773T>C)
n.3159T>C
c.968T>C (p.Leu323Pro)
c.3089T>C (p.Leu1030Pro)
c.2360T>C (p.Leu787Pro)
c.1520T>C (p.Leu507Pro)
16g.1523636A>TCA394225387IFT140c.3335T>A (p.Leu1112His)
c.917T>A (p.Leu306His)
c.*1773T>A (n.*1773T>A)
n.3159T>A
c.968T>A (p.Leu323His)
c.3089T>A (p.Leu1030His)
c.2360T>A (p.Leu787His)
c.1520T>A (p.Leu507His)
16g.1523637G>ACA394225388IFT140c.3334C>T (p.Leu1112Phe)
c.916C>T (p.Leu306Phe)
c.*1772C>T (n.*1772C>T)
n.3158C>T
c.967C>T (p.Leu323Phe)
c.3088C>T (p.Leu1030Phe)
c.2359C>T (p.Leu787Phe)
c.1519C>T (p.Leu507Phe)
gnomAD v4
16g.1523637G>CCA394225389IFT140c.3334C>G (p.Leu1112Val)
c.916C>G (p.Leu306Val)
c.*1772C>G (n.*1772C>G)
n.3158C>G
c.967C>G (p.Leu323Val)
c.3088C>G (p.Leu1030Val)
c.2359C>G (p.Leu787Val)
c.1519C>G (p.Leu507Val)
16g.1523637G>TCA394225390IFT140c.3334C>A (p.Leu1112Ile)
c.916C>A (p.Leu306Ile)
c.*1772C>A (n.*1772C>A)
n.3158C>A
c.967C>A (p.Leu323Ile)
c.3088C>A (p.Leu1030Ile)
c.2359C>A (p.Leu787Ile)
c.1519C>A (p.Leu507Ile)
16g.1523638C>ACA394225392IFT140c.3333G>T (p.Gln1111His)
c.915G>T (p.Gln305His)
c.*1771G>T (n.*1771G>T)
n.3157G>T
c.966G>T (p.Gln322His)
c.3087G>T (p.Gln1029His)
c.2358G>T (p.Gln786His)
c.1518G>T (p.Gln506His)
16g.1523638C>GCA394225391IFT140c.3333G>C (p.Gln1111His)
c.915G>C (p.Gln305His)
c.*1771G>C (n.*1771G>C)
n.3157G>C
c.966G>C (p.Gln322His)
c.3087G>C (p.Gln1029His)
c.2358G>C (p.Gln786His)
c.1518G>C (p.Gln506His)
gnomAD v4
16g.1523638C>TCA493031957IFT140c.3333G>A (p.Gln1111=)
c.915G>A (p.Gln305=)
c.*1771G>A (n.*1771G>A)
n.3157G>A
c.966G>A (p.Gln322=)
c.3087G>A (p.Gln1029=)
c.2358G>A (p.Gln786=)
c.1518G>A (p.Gln506=)
gnomAD v4
16g.1523639T>ACA394225393IFT140c.3332A>T (p.Gln1111Leu)
c.914A>T (p.Gln305Leu)
c.*1770A>T (n.*1770A>T)
n.3156A>T
c.965A>T (p.Gln322Leu)
c.3086A>T (p.Gln1029Leu)
c.2357A>T (p.Gln786Leu)
c.1517A>T (p.Gln506Leu)
16g.1523639T>CCA394225394IFT140c.3332A>G (p.Gln1111Arg)
c.914A>G (p.Gln305Arg)
c.*1770A>G (n.*1770A>G)
n.3156A>G
c.965A>G (p.Gln322Arg)
c.3086A>G (p.Gln1029Arg)
c.2357A>G (p.Gln786Arg)
c.1517A>G (p.Gln506Arg)
dbSNP gnomAD v2
16g.1523639T>GCA394225395IFT140c.3332A>C (p.Gln1111Pro)
c.914A>C (p.Gln305Pro)
c.*1770A>C (n.*1770A>C)
n.3156A>C
c.965A>C (p.Gln322Pro)
c.3086A>C (p.Gln1029Pro)
c.2357A>C (p.Gln786Pro)
c.1517A>C (p.Gln506Pro)
16g.1523639T=CA2201697820IFT140c.3332A= (p.Gln1111=)
c.914A= (p.Gln305=)
c.*1770A= (n.*1770A=)
n.3156A=
c.965A= (p.Gln322=)
c.3086A= (p.Gln1029=)
c.2357A= (p.Gln786=)
c.1517A= (p.Gln506=)
16g.1523640G>ACA394225396IFT140c.3331C>T (p.Gln1111Ter)
c.913C>T (p.Gln305Ter)
c.*1769C>T (n.*1769C>T)
n.3155C>T
c.964C>T (p.Gln322Ter)
c.3085C>T (p.Gln1029Ter)
c.2356C>T (p.Gln786Ter)
c.1516C>T (p.Gln506Ter)
dbSNP gnomAD v2 gnomAD v4
16g.1523640G>CCA394225397IFT140c.3331C>G (p.Gln1111Glu)
c.913C>G (p.Gln305Glu)
c.*1769C>G (n.*1769C>G)
n.3155C>G
c.964C>G (p.Gln322Glu)
c.3085C>G (p.Gln1029Glu)
c.2356C>G (p.Gln786Glu)
c.1516C>G (p.Gln506Glu)
16g.1523640G=CA2201697821IFT140c.3331C= (p.Gln1111=)
c.913C= (p.Gln305=)
c.*1769C= (n.*1769C=)
n.3155C=
c.964C= (p.Gln322=)
c.3085C= (p.Gln1029=)
c.2356C= (p.Gln786=)
c.1516C= (p.Gln506=)
16g.1523640G>TCA394225398IFT140c.3331C>A (p.Gln1111Lys)
c.913C>A (p.Gln305Lys)
c.*1769C>A (n.*1769C>A)
n.3155C>A
c.964C>A (p.Gln322Lys)
c.3085C>A (p.Gln1029Lys)
c.2356C>A (p.Gln786Lys)
c.1516C>A (p.Gln506Lys)
16g.1523641T>ACA493031962IFT140c.3330A>T (p.Leu1110=)
c.912A>T (p.Leu304=)
c.*1768A>T (n.*1768A>T)
n.3154A>T
c.963A>T (p.Leu321=)
c.3084A>T (p.Leu1028=)
c.2355A>T (p.Leu785=)
c.1515A>T (p.Leu505=)
16g.1523641T>CCA493031964IFT140c.3330A>G (p.Leu1110=)
c.912A>G (p.Leu304=)
c.*1768A>G (n.*1768A>G)
n.3154A>G
c.963A>G (p.Leu321=)
c.3084A>G (p.Leu1028=)
c.2355A>G (p.Leu785=)
c.1515A>G (p.Leu505=)
gnomAD v4
16g.1523641T>GCA493031965IFT140c.3330A>C (p.Leu1110=)
c.912A>C (p.Leu304=)
c.*1768A>C (n.*1768A>C)
n.3154A>C
c.963A>C (p.Leu321=)
c.3084A>C (p.Leu1028=)
c.2355A>C (p.Leu785=)
c.1515A>C (p.Leu505=)
16g.1523642A=CA2201697822IFT140c.3329T= (p.Leu1110=)
c.911T= (p.Leu304=)
c.*1767T= (n.*1767T=)
n.3153T=
c.962T= (p.Leu321=)
c.3083T= (p.Leu1028=)
c.2354T= (p.Leu785=)
c.1514T= (p.Leu505=)
16g.1523642A>CCA394225400IFT140c.3329T>G (p.Leu1110Arg)
c.911T>G (p.Leu304Arg)
c.*1767T>G (n.*1767T>G)
n.3153T>G
c.962T>G (p.Leu321Arg)
c.3083T>G (p.Leu1028Arg)
c.2354T>G (p.Leu785Arg)
c.1514T>G (p.Leu505Arg)
16g.1523642A>GCA394225399IFT140c.3329T>C (p.Leu1110Pro)
c.911T>C (p.Leu304Pro)
c.*1767T>C (n.*1767T>C)
n.3153T>C
c.962T>C (p.Leu321Pro)
c.3083T>C (p.Leu1028Pro)
c.2354T>C (p.Leu785Pro)
c.1514T>C (p.Leu505Pro)
16g.1523642A>TCA7813202IFT140c.3329T>A (p.Leu1110Gln)
c.911T>A (p.Leu304Gln)
c.*1767T>A (n.*1767T>A)
n.3153T>A
c.962T>A (p.Leu321Gln)
c.3083T>A (p.Leu1028Gln)
c.2354T>A (p.Leu785Gln)
c.1514T>A (p.Leu505Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.1523643G>ACA493031967IFT140c.3328C>T (p.Leu1110=)
c.910C>T (p.Leu304=)
c.*1766C>T (n.*1766C>T)
n.3152C>T
c.961C>T (p.Leu321=)
c.3082C>T (p.Leu1028=)
c.2353C>T (p.Leu785=)
c.1513C>T (p.Leu505=)
16g.1523643G>CCA394225401IFT140c.3328C>G (p.Leu1110Val)
c.910C>G (p.Leu304Val)
c.*1766C>G (n.*1766C>G)
n.3152C>G
c.961C>G (p.Leu321Val)
c.3082C>G (p.Leu1028Val)
c.2353C>G (p.Leu785Val)
c.1513C>G (p.Leu505Val)
16g.1523643G>TCA394225402IFT140c.3328C>A (p.Leu1110Ile)
c.910C>A (p.Leu304Ile)
c.*1766C>A (n.*1766C>A)
n.3152C>A
c.961C>A (p.Leu321Ile)
c.3082C>A (p.Leu1028Ile)
c.2353C>A (p.Leu785Ile)
c.1513C>A (p.Leu505Ile)
16g.1523644G>ACA493031968IFT140c.3327C>T (p.Ala1109=)
c.909C>T (p.Ala303=)
c.*1765C>T (n.*1765C>T)
n.3151C>T
c.960C>T (p.Ala320=)
c.3081C>T (p.Ala1027=)
c.2352C>T (p.Ala784=)
c.1512C>T (p.Ala504=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1523644G>CCA493031969IFT140c.3327C>G (p.Ala1109=)
c.909C>G (p.Ala303=)
c.*1765C>G (n.*1765C>G)
n.3151C>G
c.960C>G (p.Ala320=)
c.3081C>G (p.Ala1027=)
c.2352C>G (p.Ala784=)
c.1512C>G (p.Ala504=)
16g.1523644G=CA2201697823IFT140c.3327C= (p.Ala1109=)
c.909C= (p.Ala303=)
c.*1765C= (n.*1765C=)
n.3151C=
c.960C= (p.Ala320=)
c.3081C= (p.Ala1027=)
c.2352C= (p.Ala784=)
c.1512C= (p.Ala504=)
16g.1523644G>TCA493031972IFT140c.3327C>A (p.Ala1109=)
c.909C>A (p.Ala303=)
c.*1765C>A (n.*1765C>A)
n.3151C>A
c.960C>A (p.Ala320=)
c.3081C>A (p.Ala1027=)
c.2352C>A (p.Ala784=)
c.1512C>A (p.Ala504=)
16g.1523645G>ACA276677603IFT140c.3326C>T (p.Ala1109Val)
c.908C>T (p.Ala303Val)
c.*1764C>T (n.*1764C>T)
n.3150C>T
c.959C>T (p.Ala320Val)
c.3080C>T (p.Ala1027Val)
c.2351C>T (p.Ala784Val)
c.1511C>T (p.Ala504Val)
dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.1523645G>CCA394225403IFT140c.3326C>G (p.Ala1109Gly)
c.908C>G (p.Ala303Gly)
c.*1764C>G (n.*1764C>G)
n.3150C>G
c.959C>G (p.Ala320Gly)
c.3080C>G (p.Ala1027Gly)
c.2351C>G (p.Ala784Gly)
c.1511C>G (p.Ala504Gly)
16g.1523645G=CA2201697824IFT140c.3326C= (p.Ala1109=)
c.908C= (p.Ala303=)
c.*1764C= (n.*1764C=)
n.3150C=
c.959C= (p.Ala320=)
c.3080C= (p.Ala1027=)
c.2351C= (p.Ala784=)
c.1511C= (p.Ala504=)
16g.1523645G>TCA394225404IFT140c.3326C>A (p.Ala1109Asp)
c.908C>A (p.Ala303Asp)
c.*1764C>A (n.*1764C>A)
n.3150C>A
c.959C>A (p.Ala320Asp)
c.3080C>A (p.Ala1027Asp)
c.2351C>A (p.Ala784Asp)
c.1511C>A (p.Ala504Asp)
16g.1523646C>ACA394225405IFT140c.3325G>T (p.Ala1109Ser)
c.907G>T (p.Ala303Ser)
c.*1763G>T (n.*1763G>T)
n.3149G>T
c.958G>T (p.Ala320Ser)
c.3079G>T (p.Ala1027Ser)
c.2350G>T (p.Ala784Ser)
c.1510G>T (p.Ala504Ser)
16g.1523646C>GCA394225407IFT140c.3325G>C (p.Ala1109Pro)
c.907G>C (p.Ala303Pro)
c.*1763G>C (n.*1763G>C)
n.3149G>C
c.958G>C (p.Ala320Pro)
c.3079G>C (p.Ala1027Pro)
c.2350G>C (p.Ala784Pro)
c.1510G>C (p.Ala504Pro)
16g.1523646C>TCA394225406IFT140c.3325G>A (p.Ala1109Thr)
c.907G>A (p.Ala303Thr)
c.*1763G>A (n.*1763G>A)
n.3149G>A
c.958G>A (p.Ala320Thr)
c.3079G>A (p.Ala1027Thr)
c.2350G>A (p.Ala784Thr)
c.1510G>A (p.Ala504Thr)
16g.1523647C>ACA493031979IFT140c.3324G>T (p.Val1108=)
c.906G>T (p.Val302=)
c.*1762G>T (n.*1762G>T)
n.3148G>T
c.957G>T (p.Val319=)
c.3078G>T (p.Val1026=)
c.2349G>T (p.Val783=)
c.1509G>T (p.Val503=)
16g.1523647C>GCA493031981IFT140c.3324G>C (p.Val1108=)
c.906G>C (p.Val302=)
c.*1762G>C (n.*1762G>C)
n.3148G>C
c.957G>C (p.Val319=)
c.3078G>C (p.Val1026=)
c.2349G>C (p.Val783=)
c.1509G>C (p.Val503=)
16g.1523647C>TCA493031982IFT140c.3324G>A (p.Val1108=)
c.906G>A (p.Val302=)
c.*1762G>A (n.*1762G>A)
n.3148G>A
c.957G>A (p.Val319=)
c.3078G>A (p.Val1026=)
c.2349G>A (p.Val783=)
c.1509G>A (p.Val503=)
16g.1523648A=CA2201697825IFT140c.3323T= (p.Val1108=)
c.905T= (p.Val302=)
c.*1761T= (n.*1761T=)
n.3147T=
c.956T= (p.Val319=)
c.3077T= (p.Val1026=)
c.2348T= (p.Val783=)
c.1508T= (p.Val503=)
16g.1523648A>CCA394225408IFT140c.3323T>G (p.Val1108Gly)
c.905T>G (p.Val302Gly)
c.*1761T>G (n.*1761T>G)
n.3147T>G
c.956T>G (p.Val319Gly)
c.3077T>G (p.Val1026Gly)
c.2348T>G (p.Val783Gly)
c.1508T>G (p.Val503Gly)
16g.1523648A>GCA394225409IFT140c.3323T>C (p.Val1108Ala)
c.905T>C (p.Val302Ala)
c.*1761T>C (n.*1761T>C)
n.3147T>C
c.956T>C (p.Val319Ala)
c.3077T>C (p.Val1026Ala)
c.2348T>C (p.Val783Ala)
c.1508T>C (p.Val503Ala)
ClinVar dbSNP
16g.1523648A>TCA394225410IFT140c.3323T>A (p.Val1108Glu)
c.905T>A (p.Val302Glu)
c.*1761T>A (n.*1761T>A)
n.3147T>A
c.956T>A (p.Val319Glu)
c.3077T>A (p.Val1026Glu)
c.2348T>A (p.Val783Glu)
c.1508T>A (p.Val503Glu)
16g.1523649C>ACA394225411IFT140c.3322G>T (p.Val1108Leu)
c.904G>T (p.Val302Leu)
c.*1760G>T (n.*1760G>T)
n.3146G>T
c.955G>T (p.Val319Leu)
c.3076G>T (p.Val1026Leu)
c.2347G>T (p.Val783Leu)
c.1507G>T (p.Val503Leu)
gnomAD v4
16g.1523649C=CA2201697826IFT140c.3322G= (p.Val1108=)
c.904G= (p.Val302=)
c.*1760G= (n.*1760G=)
n.3146G=
c.955G= (p.Val319=)
c.3076G= (p.Val1026=)
c.2347G= (p.Val783=)
c.1507G= (p.Val503=)
16g.1523649C>GCA394225412IFT140c.3322G>C (p.Val1108Leu)
c.904G>C (p.Val302Leu)
c.*1760G>C (n.*1760G>C)
n.3146G>C
c.955G>C (p.Val319Leu)
c.3076G>C (p.Val1026Leu)
c.2347G>C (p.Val783Leu)
c.1507G>C (p.Val503Leu)
16g.1523649C>TCA394225413IFT140c.3322G>A (p.Val1108Met)
c.904G>A (p.Val302Met)
c.*1760G>A (n.*1760G>A)
n.3146G>A
c.955G>A (p.Val319Met)
c.3076G>A (p.Val1026Met)
c.2347G>A (p.Val783Met)
c.1507G>A (p.Val503Met)
ClinVar dbSNP
16g.1523650A>CCA394225414IFT140c.3321T>G (p.Phe1107Leu)
c.903T>G (p.Phe301Leu)
c.*1759T>G (n.*1759T>G)
n.3145T>G
c.954T>G (p.Phe318Leu)
c.3075T>G (p.Phe1025Leu)
c.2346T>G (p.Phe782Leu)
c.1506T>G (p.Phe502Leu)
16g.1523650A>GCA493031990IFT140c.3321T>C (p.Phe1107=)
c.903T>C (p.Phe301=)
c.*1759T>C (n.*1759T>C)
n.3145T>C
c.954T>C (p.Phe318=)
c.3075T>C (p.Phe1025=)
c.2346T>C (p.Phe782=)
c.1506T>C (p.Phe502=)
16g.1523650A>TCA394225415IFT140c.3321T>A (p.Phe1107Leu)
c.903T>A (p.Phe301Leu)
c.*1759T>A (n.*1759T>A)
n.3145T>A
c.954T>A (p.Phe318Leu)
c.3075T>A (p.Phe1025Leu)
c.2346T>A (p.Phe782Leu)
c.1506T>A (p.Phe502Leu)
16g.1523650_1523651insCTCTCGCA2805559215IFT140c.3320_3321insCGAGAG (p.Phe1107_Val1108insGluSer)
c.902_903insCGAGAG (p.Phe301_Val302insGluSer)
c.*1758_*1759insCGAGAG (n.*1758_*1759insCGAGAG)
n.3144_3145insCGAGAG
c.953_954insCGAGAG (p.Phe318_Val319insGluSer)
c.3074_3075insCGAGAG (p.Phe1025_Val1026insGluSer)
c.2345_2346insCGAGAG (p.Phe782_Val783insGluSer)
c.1505_1506insCGAGAG (p.Phe502_Val503insGluSer)
16g.1523651A=CA2201697827IFT140c.3320T= (p.Phe1107=)
c.902T= (p.Phe301=)
c.*1758T= (n.*1758T=)
n.3144T=
c.953T= (p.Phe318=)
c.3074T= (p.Phe1025=)
c.2345T= (p.Phe782=)
c.1505T= (p.Phe502=)
16g.1523651A>CCA394225416IFT140c.3320T>G (p.Phe1107Cys)
c.902T>G (p.Phe301Cys)
c.*1758T>G (n.*1758T>G)
n.3144T>G
c.953T>G (p.Phe318Cys)
c.3074T>G (p.Phe1025Cys)
c.2345T>G (p.Phe782Cys)
c.1505T>G (p.Phe502Cys)
16g.1523651A>GCA276677607IFT140c.3320T>C (p.Phe1107Ser)
c.902T>C (p.Phe301Ser)
c.*1758T>C (n.*1758T>C)
n.3144T>C
c.953T>C (p.Phe318Ser)
c.3074T>C (p.Phe1025Ser)
c.2345T>C (p.Phe782Ser)
c.1505T>C (p.Phe502Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1523651A>TCA394225417IFT140c.3320T>A (p.Phe1107Tyr)
c.902T>A (p.Phe301Tyr)
c.*1758T>A (n.*1758T>A)
n.3144T>A
c.953T>A (p.Phe318Tyr)
c.3074T>A (p.Phe1025Tyr)
c.2345T>A (p.Phe782Tyr)
c.1505T>A (p.Phe502Tyr)
16g.1523652A>CCA394225420IFT140c.3319T>G (p.Phe1107Val)
c.901T>G (p.Phe301Val)
c.*1757T>G (n.*1757T>G)
n.3143T>G
c.952T>G (p.Phe318Val)
c.3073T>G (p.Phe1025Val)
c.2344T>G (p.Phe782Val)
c.1504T>G (p.Phe502Val)
16g.1523652A>GCA394225419IFT140c.3319T>C (p.Phe1107Leu)
c.901T>C (p.Phe301Leu)
c.*1757T>C (n.*1757T>C)
n.3143T>C
c.952T>C (p.Phe318Leu)
c.3073T>C (p.Phe1025Leu)
c.2344T>C (p.Phe782Leu)
c.1504T>C (p.Phe502Leu)
16g.1523652A>TCA394225418IFT140c.3319T>A (p.Phe1107Ile)
c.901T>A (p.Phe301Ile)
c.*1757T>A (n.*1757T>A)
n.3143T>A
c.952T>A (p.Phe318Ile)
c.3073T>A (p.Phe1025Ile)
c.2344T>A (p.Phe782Ile)
c.1504T>A (p.Phe502Ile)
16g.1523653C>ACA394225422IFT140c.3318G>T (p.Gln1106His)
c.900G>T (p.Gln300His)
c.*1756G>T (n.*1756G>T)
n.3142G>T
c.951G>T (p.Gln317His)
c.3072G>T (p.Gln1024His)
c.2343G>T (p.Gln781His)
c.1503G>T (p.Gln501His)
16g.1523653C=CA2201697828IFT140c.3318G= (p.Gln1106=)
c.900G= (p.Gln300=)
c.*1756G= (n.*1756G=)
n.3142G=
c.951G= (p.Gln317=)
c.3072G= (p.Gln1024=)
c.2343G= (p.Gln781=)
c.1503G= (p.Gln501=)
16g.1523653C>GCA394225421IFT140c.3318G>C (p.Gln1106His)
c.900G>C (p.Gln300His)
c.*1756G>C (n.*1756G>C)
n.3142G>C
c.951G>C (p.Gln317His)
c.3072G>C (p.Gln1024His)
c.2343G>C (p.Gln781His)
c.1503G>C (p.Gln501His)
16g.1523653C>TCA493031998IFT140c.3318G>A (p.Gln1106=)
c.900G>A (p.Gln300=)
c.*1756G>A (n.*1756G>A)
n.3142G>A
c.951G>A (p.Gln317=)
c.3072G>A (p.Gln1024=)
c.2343G>A (p.Gln781=)
c.1503G>A (p.Gln501=)
dbSNP gnomAD v3 gnomAD v4
16g.1523654T>ACA394225425IFT140c.3317A>T (p.Gln1106Leu)
c.899A>T (p.Gln300Leu)
c.*1755A>T (n.*1755A>T)
n.3141A>T
c.950A>T (p.Gln317Leu)
c.3071A>T (p.Gln1024Leu)
c.2342A>T (p.Gln781Leu)
c.1502A>T (p.Gln501Leu)
16g.1523654T>CCA394225423IFT140c.3317A>G (p.Gln1106Arg)
c.899A>G (p.Gln300Arg)
c.*1755A>G (n.*1755A>G)
n.3141A>G
c.950A>G (p.Gln317Arg)
c.3071A>G (p.Gln1024Arg)
c.2342A>G (p.Gln781Arg)
c.1502A>G (p.Gln501Arg)
gnomAD v4
16g.1523654T>GCA394225424IFT140c.3317A>C (p.Gln1106Pro)
c.899A>C (p.Gln300Pro)
c.*1755A>C (n.*1755A>C)
n.3141A>C
c.950A>C (p.Gln317Pro)
c.3071A>C (p.Gln1024Pro)
c.2342A>C (p.Gln781Pro)
c.1502A>C (p.Gln501Pro)
16g.1523655G>ACA394225426IFT140c.3316C>T (p.Gln1106Ter)
c.898C>T (p.Gln300Ter)
c.*1754C>T (n.*1754C>T)
n.3140C>T
c.949C>T (p.Gln317Ter)
c.3070C>T (p.Gln1024Ter)
c.2341C>T (p.Gln781Ter)
c.1501C>T (p.Gln501Ter)
16g.1523655G>CCA394225427IFT140c.3316C>G (p.Gln1106Glu)
c.898C>G (p.Gln300Glu)
c.*1754C>G (n.*1754C>G)
n.3140C>G
c.949C>G (p.Gln317Glu)
c.3070C>G (p.Gln1024Glu)
c.2341C>G (p.Gln781Glu)
c.1501C>G (p.Gln501Glu)
16g.1523655G>TCA394225428IFT140c.3316C>A (p.Gln1106Lys)
c.898C>A (p.Gln300Lys)
c.*1754C>A (n.*1754C>A)
n.3140C>A
c.949C>A (p.Gln317Lys)
c.3070C>A (p.Gln1024Lys)
c.2341C>A (p.Gln781Lys)
c.1501C>A (p.Gln501Lys)
gnomAD v4
16g.1523656C>ACA394225429IFT140c.3315G>T (p.Gln1105His)
c.897G>T (p.Gln299His)
c.*1753G>T (n.*1753G>T)
n.3139G>T
c.948G>T (p.Gln316His)
c.3069G>T (p.Gln1023His)
c.2340G>T (p.Gln780His)
c.1500G>T (p.Gln500His)
16g.1523656C>GCA394225430IFT140c.3315G>C (p.Gln1105His)
c.897G>C (p.Gln299His)
c.*1753G>C (n.*1753G>C)
n.3139G>C
c.948G>C (p.Gln316His)
c.3069G>C (p.Gln1023His)
c.2340G>C (p.Gln780His)
c.1500G>C (p.Gln500His)
16g.1523656C>TCA493032001IFT140c.3315G>A (p.Gln1105=)
c.897G>A (p.Gln299=)
c.*1753G>A (n.*1753G>A)
n.3139G>A
c.948G>A (p.Gln316=)
c.3069G>A (p.Gln1023=)
c.2340G>A (p.Gln780=)
c.1500G>A (p.Gln500=)
16g.1523657T>ACA394225431IFT140c.3314A>T (p.Gln1105Leu)
c.896A>T (p.Gln299Leu)
c.*1752A>T (n.*1752A>T)
n.3138A>T
c.947A>T (p.Gln316Leu)
c.3068A>T (p.Gln1023Leu)
c.2339A>T (p.Gln780Leu)
c.1499A>T (p.Gln500Leu)
16g.1523657T>CCA394225432IFT140c.3314A>G (p.Gln1105Arg)
c.896A>G (p.Gln299Arg)
c.*1752A>G (n.*1752A>G)
n.3138A>G
c.947A>G (p.Gln316Arg)
c.3068A>G (p.Gln1023Arg)
c.2339A>G (p.Gln780Arg)
c.1499A>G (p.Gln500Arg)
16g.1523657T>GCA394225433IFT140c.3314A>C (p.Gln1105Pro)
c.896A>C (p.Gln299Pro)
c.*1752A>C (n.*1752A>C)
n.3138A>C
c.947A>C (p.Gln316Pro)
c.3068A>C (p.Gln1023Pro)
c.2339A>C (p.Gln780Pro)
c.1499A>C (p.Gln500Pro)
16g.1523658G>ACA394225434IFT140c.3313C>T (p.Gln1105Ter)
c.895C>T (p.Gln299Ter)
c.*1751C>T (n.*1751C>T)
n.3137C>T
c.946C>T (p.Gln316Ter)
c.3067C>T (p.Gln1023Ter)
c.2338C>T (p.Gln780Ter)
c.1498C>T (p.Gln500Ter)
ClinVar
16g.1523658G>CCA394225435IFT140c.3313C>G (p.Gln1105Glu)
c.895C>G (p.Gln299Glu)
c.*1751C>G (n.*1751C>G)
n.3137C>G
c.946C>G (p.Gln316Glu)
c.3067C>G (p.Gln1023Glu)
c.2338C>G (p.Gln780Glu)
c.1498C>G (p.Gln500Glu)
16g.1523658G>TCA394225436IFT140c.3313C>A (p.Gln1105Lys)
c.895C>A (p.Gln299Lys)
c.*1751C>A (n.*1751C>A)
n.3137C>A
c.946C>A (p.Gln316Lys)
c.3067C>A (p.Gln1023Lys)
c.2338C>A (p.Gln780Lys)
c.1498C>A (p.Gln500Lys)
16g.1523659G>ACA493032005IFT140c.3312C>T (p.Thr1104=)
c.894C>T (p.Thr298=)
c.*1750C>T (n.*1750C>T)
n.3136C>T
c.945C>T (p.Thr315=)
c.3066C>T (p.Thr1022=)
c.2337C>T (p.Thr779=)
c.1497C>T (p.Thr499=)
ClinVar dbSNP gnomAD v4
16g.1523659G>CCA493032003IFT140c.3312C>G (p.Thr1104=)
c.894C>G (p.Thr298=)
c.*1750C>G (n.*1750C>G)
n.3136C>G
c.945C>G (p.Thr315=)
c.3066C>G (p.Thr1022=)
c.2337C>G (p.Thr779=)
c.1497C>G (p.Thr499=)
dbSNP
16g.1523659G=CA2201697829IFT140c.3312C= (p.Thr1104=)
c.894C= (p.Thr298=)
c.*1750C= (n.*1750C=)
n.3136C=
c.945C= (p.Thr315=)
c.3066C= (p.Thr1022=)
c.2337C= (p.Thr779=)
c.1497C= (p.Thr499=)
16g.1523659G>TCA493032004IFT140c.3312C>A (p.Thr1104=)
c.894C>A (p.Thr298=)
c.*1750C>A (n.*1750C>A)
n.3136C>A
c.945C>A (p.Thr315=)
c.3066C>A (p.Thr1022=)
c.2337C>A (p.Thr779=)
c.1497C>A (p.Thr499=)
16g.1523660G>ACA394225439IFT140c.3311C>T (p.Thr1104Ile)
c.893C>T (p.Thr298Ile)
c.*1749C>T (n.*1749C>T)
n.3135C>T
c.944C>T (p.Thr315Ile)
c.3065C>T (p.Thr1022Ile)
c.2336C>T (p.Thr779Ile)
c.1496C>T (p.Thr499Ile)
COSMIC
16g.1523660G>CCA394225437IFT140c.3311C>G (p.Thr1104Ser)
c.893C>G (p.Thr298Ser)
c.*1749C>G (n.*1749C>G)
n.3135C>G
c.944C>G (p.Thr315Ser)
c.3065C>G (p.Thr1022Ser)
c.2336C>G (p.Thr779Ser)
c.1496C>G (p.Thr499Ser)
16g.1523660G>TCA394225438IFT140c.3311C>A (p.Thr1104Asn)
c.893C>A (p.Thr298Asn)
c.*1749C>A (n.*1749C>A)
n.3135C>A
c.944C>A (p.Thr315Asn)
c.3065C>A (p.Thr1022Asn)
c.2336C>A (p.Thr779Asn)
c.1496C>A (p.Thr499Asn)

Number of alleles fetched