Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.1510959T>ACA493031330IFT140c.4374A>T (p.Ala1458=)
c.1956A>T (p.Ala652=)
c.*2812A>T (n.*2812A>T)
n.4198A>T
c.2007A>T (p.Ala669=)
c.4128A>T (p.Ala1376=)
c.3399A>T (p.Ala1133=)
c.2559A>T (p.Ala853=)
16g.1510959T>CCA493031331IFT140c.4374A>G (p.Ala1458=)
c.1956A>G (p.Ala652=)
c.*2812A>G (n.*2812A>G)
n.4198A>G
c.2007A>G (p.Ala669=)
c.4128A>G (p.Ala1376=)
c.3399A>G (p.Ala1133=)
c.2559A>G (p.Ala853=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1510959T>GCA493031332IFT140c.4374A>C (p.Ala1458=)
c.1956A>C (p.Ala652=)
c.*2812A>C (n.*2812A>C)
n.4198A>C
c.2007A>C (p.Ala669=)
c.4128A>C (p.Ala1376=)
c.3399A>C (p.Ala1133=)
c.2559A>C (p.Ala853=)
16g.1510959T=CA2201718343IFT140c.4374A= (p.Ala1458=)
c.1956A= (p.Ala652=)
c.*2812A= (n.*2812A=)
n.4198A=
c.2007A= (p.Ala669=)
c.4128A= (p.Ala1376=)
c.3399A= (p.Ala1133=)
c.2559A= (p.Ala853=)
16g.1510960G>ACA394222201IFT140c.4373C>T (p.Ala1458Val)
c.1955C>T (p.Ala652Val)
c.*2811C>T (n.*2811C>T)
n.4197C>T
c.2006C>T (p.Ala669Val)
c.4127C>T (p.Ala1376Val)
c.3398C>T (p.Ala1133Val)
c.2558C>T (p.Ala853Val)
 dbSNP
16g.1510960G>CCA394222202IFT140c.4373C>G (p.Ala1458Gly)
c.1955C>G (p.Ala652Gly)
c.*2811C>G (n.*2811C>G)
n.4197C>G
c.2006C>G (p.Ala669Gly)
c.4127C>G (p.Ala1376Gly)
c.3398C>G (p.Ala1133Gly)
c.2558C>G (p.Ala853Gly)
16g.1510960G=CA2201718344IFT140c.4373C= (p.Ala1458=)
c.1955C= (p.Ala652=)
c.*2811C= (n.*2811C=)
n.4197C=
c.2006C= (p.Ala669=)
c.4127C= (p.Ala1376=)
c.3398C= (p.Ala1133=)
c.2558C= (p.Ala853=)
16g.1510960G>TCA394222203IFT140c.4373C>A (p.Ala1458Glu)
c.1955C>A (p.Ala652Glu)
c.*2811C>A (n.*2811C>A)
n.4197C>A
c.2006C>A (p.Ala669Glu)
c.4127C>A (p.Ala1376Glu)
c.3398C>A (p.Ala1133Glu)
c.2558C>A (p.Ala853Glu)
16g.1510961C>ACA394222206IFT140c.4372G>T (p.Ala1458Ser)
c.1954G>T (p.Ala652Ser)
c.*2810G>T (n.*2810G>T)
n.4196G>T
c.2005G>T (p.Ala669Ser)
c.4126G>T (p.Ala1376Ser)
c.3397G>T (p.Ala1133Ser)
c.2557G>T (p.Ala853Ser)
16g.1510961C=CA2201718345IFT140c.4372G= (p.Ala1458=)
c.1954G= (p.Ala652=)
c.*2810G= (n.*2810G=)
n.4196G=
c.2005G= (p.Ala669=)
c.4126G= (p.Ala1376=)
c.3397G= (p.Ala1133=)
c.2557G= (p.Ala853=)
16g.1510961C>GCA394222205IFT140c.4372G>C (p.Ala1458Pro)
c.1954G>C (p.Ala652Pro)
c.*2810G>C (n.*2810G>C)
n.4196G>C
c.2005G>C (p.Ala669Pro)
c.4126G>C (p.Ala1376Pro)
c.3397G>C (p.Ala1133Pro)
c.2557G>C (p.Ala853Pro)
16g.1510961C>TCA394222204IFT140c.4372G>A (p.Ala1458Thr)
c.1954G>A (p.Ala652Thr)
c.*2810G>A (n.*2810G>A)
n.4196G>A
c.2005G>A (p.Ala669Thr)
c.4126G>A (p.Ala1376Thr)
c.3397G>A (p.Ala1133Thr)
c.2557G>A (p.Ala853Thr)
 dbSNP gnomAD v4
16g.1510962C>ACA394222207IFT140c.4371G>T (p.Glu1457Asp)
c.1953G>T (p.Glu651Asp)
c.*2809G>T (n.*2809G>T)
n.4195G>T
c.2004G>T (p.Glu668Asp)
c.4125G>T (p.Glu1375Asp)
c.3396G>T (p.Glu1132Asp)
c.2556G>T (p.Glu852Asp)
16g.1510962C=CA2201718346IFT140c.4371G= (p.Glu1457=)
c.1953G= (p.Glu651=)
c.*2809G= (n.*2809G=)
n.4195G=
c.2004G= (p.Glu668=)
c.4125G= (p.Glu1375=)
c.3396G= (p.Glu1132=)
c.2556G= (p.Glu852=)
16g.1510962C>GCA394222208IFT140c.4371G>C (p.Glu1457Asp)
c.1953G>C (p.Glu651Asp)
c.*2809G>C (n.*2809G>C)
n.4195G>C
c.2004G>C (p.Glu668Asp)
c.4125G>C (p.Glu1375Asp)
c.3396G>C (p.Glu1132Asp)
c.2556G>C (p.Glu852Asp)
16g.1510962C>TCA493031335IFT140c.4371G>A (p.Glu1457=)
c.1953G>A (p.Glu651=)
c.*2809G>A (n.*2809G>A)
n.4195G>A
c.2004G>A (p.Glu668=)
c.4125G>A (p.Glu1375=)
c.3396G>A (p.Glu1132=)
c.2556G>A (p.Glu852=)
 dbSNP gnomAD v3 gnomAD v4
16g.1510963T>ACA394222209IFT140c.4370A>T (p.Glu1457Val)
c.1952A>T (p.Glu651Val)
c.*2808A>T (n.*2808A>T)
n.4194A>T
c.2003A>T (p.Glu668Val)
c.4124A>T (p.Glu1375Val)
c.3395A>T (p.Glu1132Val)
c.2555A>T (p.Glu852Val)
 gnomAD v4
16g.1510963T>CCA394222211IFT140c.4370A>G (p.Glu1457Gly)
c.1952A>G (p.Glu651Gly)
c.*2808A>G (n.*2808A>G)
n.4194A>G
c.2003A>G (p.Glu668Gly)
c.4124A>G (p.Glu1375Gly)
c.3395A>G (p.Glu1132Gly)
c.2555A>G (p.Glu852Gly)
16g.1510963T>GCA394222210IFT140c.4370A>C (p.Glu1457Ala)
c.1952A>C (p.Glu651Ala)
c.*2808A>C (n.*2808A>C)
n.4194A>C
c.2003A>C (p.Glu668Ala)
c.4124A>C (p.Glu1375Ala)
c.3395A>C (p.Glu1132Ala)
c.2555A>C (p.Glu852Ala)
16g.1510964C>ACA394222212IFT140c.4369G>T (p.Glu1457Ter)
c.1951G>T (p.Glu651Ter)
c.*2807G>T (n.*2807G>T)
n.4193G>T
c.2002G>T (p.Glu668Ter)
c.4123G>T (p.Glu1375Ter)
c.3394G>T (p.Glu1132Ter)
c.2554G>T (p.Glu852Ter)
16g.1510964C>GCA394222213IFT140c.4369G>C (p.Glu1457Gln)
c.1951G>C (p.Glu651Gln)
c.*2807G>C (n.*2807G>C)
n.4193G>C
c.2002G>C (p.Glu668Gln)
c.4123G>C (p.Glu1375Gln)
c.3394G>C (p.Glu1132Gln)
c.2554G>C (p.Glu852Gln)
 gnomAD v4
16g.1510964C>TCA394222214IFT140c.4369G>A (p.Glu1457Lys)
c.1951G>A (p.Glu651Lys)
c.*2807G>A (n.*2807G>A)
n.4193G>A
c.2002G>A (p.Glu668Lys)
c.4123G>A (p.Glu1375Lys)
c.3394G>A (p.Glu1132Lys)
c.2554G>A (p.Glu852Lys)
16g.1510965T>ACA394222215IFT140c.4368A>T (p.Glu1456Asp)
c.1950A>T (p.Glu650Asp)
c.*2806A>T (n.*2806A>T)
n.4192A>T
c.2001A>T (p.Glu667Asp)
c.4122A>T (p.Glu1374Asp)
c.3393A>T (p.Glu1131Asp)
c.2553A>T (p.Glu851Asp)
16g.1510965T>CCA493031338IFT140c.4368A>G (p.Glu1456=)
c.1950A>G (p.Glu650=)
c.*2806A>G (n.*2806A>G)
n.4192A>G
c.2001A>G (p.Glu667=)
c.4122A>G (p.Glu1374=)
c.3393A>G (p.Glu1131=)
c.2553A>G (p.Glu851=)
16g.1510965T>GCA394222216IFT140c.4368A>C (p.Glu1456Asp)
c.1950A>C (p.Glu650Asp)
c.*2806A>C (n.*2806A>C)
n.4192A>C
c.2001A>C (p.Glu667Asp)
c.4122A>C (p.Glu1374Asp)
c.3393A>C (p.Glu1131Asp)
c.2553A>C (p.Glu851Asp)
16g.1510965_1510986delinsTTCCACCACCTCCTCGTCCAGCCA2201718347IFT140c.4347_4368delinsGCTGGACGAGGAGGTGGTGGAA (p.Glu1449=)
c.1929_1950delinsGCTGGACGAGGAGGTGGTGGAA (p.Glu643=)
c.*2785_*2806delinsGCTGGACGAGGAGGTGGTGGAA (n.*2785_*2806delinsGCTGGACGAGGAGGTGGTGGAA)
n.4171_4192delinsGCTGGACGAGGAGGTGGTGGAA
c.1980_2001delinsGCTGGACGAGGAGGTGGTGGAA (p.Glu660=)
c.4101_4122delinsGCTGGACGAGGAGGTGGTGGAA (p.Glu1367=)
c.3372_3393delinsGCTGGACGAGGAGGTGGTGGAA (p.Glu1124=)
c.2532_2553delinsGCTGGACGAGGAGGTGGTGGAA (p.Glu844=)
16g.1510965_1510966insAGCA2805557697IFT140c.4367_4368insCT (p.Glu1456AspfsTer2)
c.1949_1950insCT (p.Glu650AspfsTer2)
c.*2805_*2806insCT (n.*2805_*2806insCT)
n.4191_4192insCT
c.2000_2001insCT (p.Glu667AspfsTer2)
c.4121_4122insCT (p.Glu1374AspfsTer2)
c.3392_3393insCT (p.Glu1131AspfsTer2)
c.2552_2553insCT (p.Glu851AspfsTer2)
16g.1510966T>ACA394222217IFT140c.4367A>T (p.Glu1456Val)
c.1949A>T (p.Glu650Val)
c.*2805A>T (n.*2805A>T)
n.4191A>T
c.2000A>T (p.Glu667Val)
c.4121A>T (p.Glu1374Val)
c.3392A>T (p.Glu1131Val)
c.2552A>T (p.Glu851Val)
16g.1510966T>CCA394222218IFT140c.4367A>G (p.Glu1456Gly)
c.1949A>G (p.Glu650Gly)
c.*2805A>G (n.*2805A>G)
n.4191A>G
c.2000A>G (p.Glu667Gly)
c.4121A>G (p.Glu1374Gly)
c.3392A>G (p.Glu1131Gly)
c.2552A>G (p.Glu851Gly)
16g.1510966T>GCA394222219IFT140c.4367A>C (p.Glu1456Ala)
c.1949A>C (p.Glu650Ala)
c.*2805A>C (n.*2805A>C)
n.4191A>C
c.2000A>C (p.Glu667Ala)
c.4121A>C (p.Glu1374Ala)
c.3392A>C (p.Glu1131Ala)
c.2552A>C (p.Glu851Ala)
16g.1510966_1510969delinsTCCACA2201718348IFT140c.4364_4367delinsTGGA (p.Val1455=)
c.1946_1949delinsTGGA (p.Val649=)
c.*2802_*2805delinsTGGA (n.*2802_*2805delinsTGGA)
n.4188_4191delinsTGGA
c.1997_2000delinsTGGA (p.Val666=)
c.4118_4121delinsTGGA (p.Val1373=)
c.3389_3392delinsTGGA (p.Val1130=)
c.2549_2552delinsTGGA (p.Val850=)
16g.1510970_1510984delCA2631006489IFT140c.4353_4367del (p.Asp1451_Val1455del)
c.1935_1949del (p.Asp645_Val649del)
c.*2791_*2805del (n.*2791_*2805del)
n.4177_4191del
c.1986_2000del (p.Asp662_Val666del)
c.4107_4121del (p.Asp1369_Val1373del)
c.3378_3392del (p.Asp1126_Val1130del)
c.2538_2552del (p.Asp846_Val850del)
 gnomAD v4
16g.1510969_1510989delCA7812771IFT140c.4347_4367del (p.Leu1450_Glu1456del)
c.1929_1949del (p.Leu644_Glu650del)
c.*2785_*2805del (n.*2785_*2805del)
n.4171_4191del
c.1980_2000del (p.Leu661_Glu667del)
c.4101_4121del (p.Leu1368_Glu1374del)
c.3372_3392del (p.Leu1125_Glu1131del)
c.2532_2552del (p.Leu845_Glu851del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1510967C>ACA394222220IFT140c.4366G>T (p.Glu1456Ter)
c.1948G>T (p.Glu650Ter)
c.*2804G>T (n.*2804G>T)
n.4190G>T
c.1999G>T (p.Glu667Ter)
c.4120G>T (p.Glu1374Ter)
c.3391G>T (p.Glu1131Ter)
c.2551G>T (p.Glu851Ter)
16g.1510967C=CA2201718349IFT140c.4366G= (p.Glu1456=)
c.1948G= (p.Glu650=)
c.*2804G= (n.*2804G=)
n.4190G=
c.1999G= (p.Glu667=)
c.4120G= (p.Glu1374=)
c.3391G= (p.Glu1131=)
c.2551G= (p.Glu851=)
16g.1510967C>GCA394222221IFT140c.4366G>C (p.Glu1456Gln)
c.1948G>C (p.Glu650Gln)
c.*2804G>C (n.*2804G>C)
n.4190G>C
c.1999G>C (p.Glu667Gln)
c.4120G>C (p.Glu1374Gln)
c.3391G>C (p.Glu1131Gln)
c.2551G>C (p.Glu851Gln)
16g.1510967C>TCA394222222IFT140c.4366G>A (p.Glu1456Lys)
c.1948G>A (p.Glu650Lys)
c.*2804G>A (n.*2804G>A)
n.4190G>A
c.1999G>A (p.Glu667Lys)
c.4120G>A (p.Glu1374Lys)
c.3391G>A (p.Glu1131Lys)
c.2551G>A (p.Glu851Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.1510972_1510974delCA912995420IFT140c.4364_4366del (p.Val1455del)
c.1946_1948del (p.Val649del)
c.*2802_*2804del (n.*2802_*2804del)
n.4188_4190del
c.1997_1999del (p.Val666del)
c.4118_4120del (p.Val1373del)
c.3389_3391del (p.Val1130del)
c.2549_2551del (p.Val850del)
 dbSNP gnomAD v3 gnomAD v4
16g.1510968C>ACA493031340IFT140c.4365G>T (p.Val1455=)
c.1947G>T (p.Val649=)
c.*2803G>T (n.*2803G>T)
n.4189G>T
c.1998G>T (p.Val666=)
c.4119G>T (p.Val1373=)
c.3390G>T (p.Val1130=)
c.2550G>T (p.Val850=)
16g.1510968C=CA2201718350IFT140c.4365G= (p.Val1455=)
c.1947G= (p.Val649=)
c.*2803G= (n.*2803G=)
n.4189G=
c.1998G= (p.Val666=)
c.4119G= (p.Val1373=)
c.3390G= (p.Val1130=)
c.2550G= (p.Val850=)
16g.1510968C>GCA493031341IFT140c.4365G>C (p.Val1455=)
c.1947G>C (p.Val649=)
c.*2803G>C (n.*2803G>C)
n.4189G>C
c.1998G>C (p.Val666=)
c.4119G>C (p.Val1373=)
c.3390G>C (p.Val1130=)
c.2550G>C (p.Val850=)
16g.1510968C>TCA7812772IFT140c.4365G>A (p.Val1455=)
c.1947G>A (p.Val649=)
c.*2803G>A (n.*2803G>A)
n.4189G>A
c.1998G>A (p.Val666=)
c.4119G>A (p.Val1373=)
c.3390G>A (p.Val1130=)
c.2550G>A (p.Val850=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1510969A=CA2201718351IFT140c.4364T= (p.Val1455=)
c.1946T= (p.Val649=)
c.*2802T= (n.*2802T=)
n.4188T=
c.1997T= (p.Val666=)
c.4118T= (p.Val1373=)
c.3389T= (p.Val1130=)
c.2549T= (p.Val850=)
16g.1510969A>CCA394222225IFT140c.4364T>G (p.Val1455Gly)
c.1946T>G (p.Val649Gly)
c.*2802T>G (n.*2802T>G)
n.4188T>G
c.1997T>G (p.Val666Gly)
c.4118T>G (p.Val1373Gly)
c.3389T>G (p.Val1130Gly)
c.2549T>G (p.Val850Gly)
 dbSNP
16g.1510969A>GCA394222224IFT140c.4364T>C (p.Val1455Ala)
c.1946T>C (p.Val649Ala)
c.*2802T>C (n.*2802T>C)
n.4188T>C
c.1997T>C (p.Val666Ala)
c.4118T>C (p.Val1373Ala)
c.3389T>C (p.Val1130Ala)
c.2549T>C (p.Val850Ala)
16g.1510969A>TCA394222223IFT140c.4364T>A (p.Val1455Glu)
c.1946T>A (p.Val649Glu)
c.*2802T>A (n.*2802T>A)
n.4188T>A
c.1997T>A (p.Val666Glu)
c.4118T>A (p.Val1373Glu)
c.3389T>A (p.Val1130Glu)
c.2549T>A (p.Val850Glu)
16g.1510970C>ACA394222226IFT140c.4363G>T (p.Val1455Leu)
c.1945G>T (p.Val649Leu)
c.*2801G>T (n.*2801G>T)
n.4187G>T
c.1996G>T (p.Val666Leu)
c.4117G>T (p.Val1373Leu)
c.3388G>T (p.Val1130Leu)
c.2548G>T (p.Val850Leu)
 gnomAD v4
16g.1510970C>GCA394222227IFT140c.4363G>C (p.Val1455Leu)
c.1945G>C (p.Val649Leu)
c.*2801G>C (n.*2801G>C)
n.4187G>C
c.1996G>C (p.Val666Leu)
c.4117G>C (p.Val1373Leu)
c.3388G>C (p.Val1130Leu)
c.2548G>C (p.Val850Leu)
16g.1510970C>TCA394222228IFT140c.4363G>A (p.Val1455Met)
c.1945G>A (p.Val649Met)
c.*2801G>A (n.*2801G>A)
n.4187G>A
c.1996G>A (p.Val666Met)
c.4117G>A (p.Val1373Met)
c.3388G>A (p.Val1130Met)
c.2548G>A (p.Val850Met)
 gnomAD v4
16g.1510971C>ACA7812773IFT140c.4362G>T (p.Val1454=)
c.1944G>T (p.Val648=)
c.*2800G>T (n.*2800G>T)
n.4186G>T
c.1995G>T (p.Val665=)
c.4116G>T (p.Val1372=)
c.3387G>T (p.Val1129=)
c.2547G>T (p.Val849=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1510971C=CA2201718352IFT140c.4362G= (p.Val1454=)
c.1944G= (p.Val648=)
c.*2800G= (n.*2800G=)
n.4186G=
c.1995G= (p.Val665=)
c.4116G= (p.Val1372=)
c.3387G= (p.Val1129=)
c.2547G= (p.Val849=)
16g.1510971C>GCA493031342IFT140c.4362G>C (p.Val1454=)
c.1944G>C (p.Val648=)
c.*2800G>C (n.*2800G>C)
n.4186G>C
c.1995G>C (p.Val665=)
c.4116G>C (p.Val1372=)
c.3387G>C (p.Val1129=)
c.2547G>C (p.Val849=)
 dbSNP gnomAD v2 gnomAD v4
16g.1510971C>TCA7812774IFT140c.4362G>A (p.Val1454=)
c.1944G>A (p.Val648=)
c.*2800G>A (n.*2800G>A)
n.4186G>A
c.1995G>A (p.Val665=)
c.4116G>A (p.Val1372=)
c.3387G>A (p.Val1129=)
c.2547G>A (p.Val849=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1510972A>CCA394222229IFT140c.4361T>G (p.Val1454Gly)
c.1943T>G (p.Val648Gly)
c.*2799T>G (n.*2799T>G)
n.4185T>G
c.1994T>G (p.Val665Gly)
c.4115T>G (p.Val1372Gly)
c.3386T>G (p.Val1129Gly)
c.2546T>G (p.Val849Gly)
16g.1510972A>GCA394222230IFT140c.4361T>C (p.Val1454Ala)
c.1943T>C (p.Val648Ala)
c.*2799T>C (n.*2799T>C)
n.4185T>C
c.1994T>C (p.Val665Ala)
c.4115T>C (p.Val1372Ala)
c.3386T>C (p.Val1129Ala)
c.2546T>C (p.Val849Ala)
16g.1510972A>TCA394222231IFT140c.4361T>A (p.Val1454Glu)
c.1943T>A (p.Val648Glu)
c.*2799T>A (n.*2799T>A)
n.4185T>A
c.1994T>A (p.Val665Glu)
c.4115T>A (p.Val1372Glu)
c.3386T>A (p.Val1129Glu)
c.2546T>A (p.Val849Glu)
 gnomAD v4
16g.1510973C>ACA394222232IFT140c.4360G>T (p.Val1454Leu)
c.1942G>T (p.Val648Leu)
c.*2798G>T (n.*2798G>T)
n.4184G>T
c.1993G>T (p.Val665Leu)
c.4114G>T (p.Val1372Leu)
c.3385G>T (p.Val1129Leu)
c.2545G>T (p.Val849Leu)
16g.1510973C>GCA394222233IFT140c.4360G>C (p.Val1454Leu)
c.1942G>C (p.Val648Leu)
c.*2798G>C (n.*2798G>C)
n.4184G>C
c.1993G>C (p.Val665Leu)
c.4114G>C (p.Val1372Leu)
c.3385G>C (p.Val1129Leu)
c.2545G>C (p.Val849Leu)
16g.1510973C>TCA394222234IFT140c.4360G>A (p.Val1454Met)
c.1942G>A (p.Val648Met)
c.*2798G>A (n.*2798G>A)
n.4184G>A
c.1993G>A (p.Val665Met)
c.4114G>A (p.Val1372Met)
c.3385G>A (p.Val1129Met)
c.2545G>A (p.Val849Met)
 gnomAD v4
16g.1510977_1510979delCA2631006490IFT140c.4358_4360del (p.Glu1453del)
c.1940_1942del (p.Glu647del)
c.*2796_*2798del (n.*2796_*2798del)
n.4182_4184del
c.1991_1993del (p.Glu664del)
c.4112_4114del (p.Glu1371del)
c.3383_3385del (p.Glu1128del)
c.2543_2545del (p.Glu848del)
 gnomAD v4
16g.1510974C>ACA394222235IFT140c.4359G>T (p.Glu1453Asp)
c.1941G>T (p.Glu647Asp)
c.*2797G>T (n.*2797G>T)
n.4183G>T
c.1992G>T (p.Glu664Asp)
c.4113G>T (p.Glu1371Asp)
c.3384G>T (p.Glu1128Asp)
c.2544G>T (p.Glu848Asp)
16g.1510974C=CA2201718353IFT140c.4359G= (p.Glu1453=)
c.1941G= (p.Glu647=)
c.*2797G= (n.*2797G=)
n.4183G=
c.1992G= (p.Glu664=)
c.4113G= (p.Glu1371=)
c.3384G= (p.Glu1128=)
c.2544G= (p.Glu848=)
16g.1510974C>GCA394222236IFT140c.4359G>C (p.Glu1453Asp)
c.1941G>C (p.Glu647Asp)
c.*2797G>C (n.*2797G>C)
n.4183G>C
c.1992G>C (p.Glu664Asp)
c.4113G>C (p.Glu1371Asp)
c.3384G>C (p.Glu1128Asp)
c.2544G>C (p.Glu848Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.1510974C>TCA493031344IFT140c.4359G>A (p.Glu1453=)
c.1941G>A (p.Glu647=)
c.*2797G>A (n.*2797G>A)
n.4183G>A
c.1992G>A (p.Glu664=)
c.4113G>A (p.Glu1371=)
c.3384G>A (p.Glu1128=)
c.2544G>A (p.Glu848=)
 gnomAD v4
16g.1510975T>ACA394222237IFT140c.4358A>T (p.Glu1453Val)
c.1940A>T (p.Glu647Val)
c.*2796A>T (n.*2796A>T)
n.4182A>T
c.1991A>T (p.Glu664Val)
c.4112A>T (p.Glu1371Val)
c.3383A>T (p.Glu1128Val)
c.2543A>T (p.Glu848Val)
 gnomAD v4
16g.1510975T>CCA394222238IFT140c.4358A>G (p.Glu1453Gly)
c.1940A>G (p.Glu647Gly)
c.*2796A>G (n.*2796A>G)
n.4182A>G
c.1991A>G (p.Glu664Gly)
c.4112A>G (p.Glu1371Gly)
c.3383A>G (p.Glu1128Gly)
c.2543A>G (p.Glu848Gly)
16g.1510975T>GCA276668140IFT140c.4358A>C (p.Glu1453Ala)
c.1940A>C (p.Glu647Ala)
c.*2796A>C (n.*2796A>C)
n.4182A>C
c.1991A>C (p.Glu664Ala)
c.4112A>C (p.Glu1371Ala)
c.3383A>C (p.Glu1128Ala)
c.2543A>C (p.Glu848Ala)
 dbSNP gnomAD v2
16g.1510975T=CA2201718354IFT140c.4358A= (p.Glu1453=)
c.1940A= (p.Glu647=)
c.*2796A= (n.*2796A=)
n.4182A=
c.1991A= (p.Glu664=)
c.4112A= (p.Glu1371=)
c.3383A= (p.Glu1128=)
c.2543A= (p.Glu848=)
16g.1510976C>ACA394222239IFT140c.4357G>T (p.Glu1453Ter)
c.1939G>T (p.Glu647Ter)
c.*2795G>T (n.*2795G>T)
n.4181G>T
c.1990G>T (p.Glu664Ter)
c.4111G>T (p.Glu1371Ter)
c.3382G>T (p.Glu1128Ter)
c.2542G>T (p.Glu848Ter)
16g.1510976C>GCA394222240IFT140c.4357G>C (p.Glu1453Gln)
c.1939G>C (p.Glu647Gln)
c.*2795G>C (n.*2795G>C)
n.4181G>C
c.1990G>C (p.Glu664Gln)
c.4111G>C (p.Glu1371Gln)
c.3382G>C (p.Glu1128Gln)
c.2542G>C (p.Glu848Gln)
16g.1510976C>TCA394222241IFT140c.4357G>A (p.Glu1453Lys)
c.1939G>A (p.Glu647Lys)
c.*2795G>A (n.*2795G>A)
n.4181G>A
c.1990G>A (p.Glu664Lys)
c.4111G>A (p.Glu1371Lys)
c.3382G>A (p.Glu1128Lys)
c.2542G>A (p.Glu848Lys)
16g.1510977C>ACA394222242IFT140c.4356G>T (p.Glu1452Asp)
c.1938G>T (p.Glu646Asp)
c.*2794G>T (n.*2794G>T)
n.4180G>T
c.1989G>T (p.Glu663Asp)
c.4110G>T (p.Glu1370Asp)
c.3381G>T (p.Glu1127Asp)
c.2541G>T (p.Glu847Asp)
16g.1510977C=CA2201718355IFT140c.4356G= (p.Glu1452=)
c.1938G= (p.Glu646=)
c.*2794G= (n.*2794G=)
n.4180G=
c.1989G= (p.Glu663=)
c.4110G= (p.Glu1370=)
c.3381G= (p.Glu1127=)
c.2541G= (p.Glu847=)
16g.1510977C>GCA394222243IFT140c.4356G>C (p.Glu1452Asp)
c.1938G>C (p.Glu646Asp)
c.*2794G>C (n.*2794G>C)
n.4180G>C
c.1989G>C (p.Glu663Asp)
c.4110G>C (p.Glu1370Asp)
c.3381G>C (p.Glu1127Asp)
c.2541G>C (p.Glu847Asp)
16g.1510977C>TCA493031348IFT140c.4356G>A (p.Glu1452=)
c.1938G>A (p.Glu646=)
c.*2794G>A (n.*2794G>A)
n.4180G>A
c.1989G>A (p.Glu663=)
c.4110G>A (p.Glu1370=)
c.3381G>A (p.Glu1127=)
c.2541G>A (p.Glu847=)
 dbSNP
16g.1510978T>ACA394222244IFT140c.4355A>T (p.Glu1452Val)
c.1937A>T (p.Glu646Val)
c.*2793A>T (n.*2793A>T)
n.4179A>T
c.1988A>T (p.Glu663Val)
c.4109A>T (p.Glu1370Val)
c.3380A>T (p.Glu1127Val)
c.2540A>T (p.Glu847Val)
16g.1510978T>CCA394222245IFT140c.4355A>G (p.Glu1452Gly)
c.1937A>G (p.Glu646Gly)
c.*2793A>G (n.*2793A>G)
n.4179A>G
c.1988A>G (p.Glu663Gly)
c.4109A>G (p.Glu1370Gly)
c.3380A>G (p.Glu1127Gly)
c.2540A>G (p.Glu847Gly)
16g.1510978T>GCA394222246IFT140c.4355A>C (p.Glu1452Ala)
c.1937A>C (p.Glu646Ala)
c.*2793A>C (n.*2793A>C)
n.4179A>C
c.1988A>C (p.Glu663Ala)
c.4109A>C (p.Glu1370Ala)
c.3380A>C (p.Glu1127Ala)
c.2540A>C (p.Glu847Ala)
 dbSNP gnomAD v3 gnomAD v4
16g.1510978T=CA2201718356IFT140c.4355A= (p.Glu1452=)
c.1937A= (p.Glu646=)
c.*2793A= (n.*2793A=)
n.4179A=
c.1988A= (p.Glu663=)
c.4109A= (p.Glu1370=)
c.3380A= (p.Glu1127=)
c.2540A= (p.Glu847=)
16g.1510979C>ACA394222247IFT140c.4354G>T (p.Glu1452Ter)
c.1936G>T (p.Glu646Ter)
c.*2792G>T (n.*2792G>T)
n.4178G>T
c.1987G>T (p.Glu663Ter)
c.4108G>T (p.Glu1370Ter)
c.3379G>T (p.Glu1127Ter)
c.2539G>T (p.Glu847Ter)
 gnomAD v4
16g.1510979C=CA2201718357IFT140c.4354G= (p.Glu1452=)
c.1936G= (p.Glu646=)
c.*2792G= (n.*2792G=)
n.4178G=
c.1987G= (p.Glu663=)
c.4108G= (p.Glu1370=)
c.3379G= (p.Glu1127=)
c.2539G= (p.Glu847=)
16g.1510979C>GCA394222248IFT140c.4354G>C (p.Glu1452Gln)
c.1936G>C (p.Glu646Gln)
c.*2792G>C (n.*2792G>C)
n.4178G>C
c.1987G>C (p.Glu663Gln)
c.4108G>C (p.Glu1370Gln)
c.3379G>C (p.Glu1127Gln)
c.2539G>C (p.Glu847Gln)
16g.1510979C>TCA7812775IFT140c.4354G>A (p.Glu1452Lys)
c.1936G>A (p.Glu646Lys)
c.*2792G>A (n.*2792G>A)
n.4178G>A
c.1987G>A (p.Glu663Lys)
c.4108G>A (p.Glu1370Lys)
c.3379G>A (p.Glu1127Lys)
c.2539G>A (p.Glu847Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1510980G>ACA7812776IFT140c.4353C>T (p.Asp1451=)
c.1935C>T (p.Asp645=)
c.*2791C>T (n.*2791C>T)
n.4177C>T
c.1986C>T (p.Asp662=)
c.4107C>T (p.Asp1369=)
c.3378C>T (p.Asp1126=)
c.2538C>T (p.Asp846=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.1510980G>CCA394222250IFT140c.4353C>G (p.Asp1451Glu)
c.1935C>G (p.Asp645Glu)
c.*2791C>G (n.*2791C>G)
n.4177C>G
c.1986C>G (p.Asp662Glu)
c.4107C>G (p.Asp1369Glu)
c.3378C>G (p.Asp1126Glu)
c.2538C>G (p.Asp846Glu)
16g.1510980G=CA2201718358IFT140c.4353C= (p.Asp1451=)
c.1935C= (p.Asp645=)
c.*2791C= (n.*2791C=)
n.4177C=
c.1986C= (p.Asp662=)
c.4107C= (p.Asp1369=)
c.3378C= (p.Asp1126=)
c.2538C= (p.Asp846=)
16g.1510980G>TCA394222249IFT140c.4353C>A (p.Asp1451Glu)
c.1935C>A (p.Asp645Glu)
c.*2791C>A (n.*2791C>A)
n.4177C>A
c.1986C>A (p.Asp662Glu)
c.4107C>A (p.Asp1369Glu)
c.3378C>A (p.Asp1126Glu)
c.2538C>A (p.Asp846Glu)
 gnomAD v4
16g.1510981T>ACA394222251IFT140c.4352A>T (p.Asp1451Val)
c.1934A>T (p.Asp645Val)
c.*2790A>T (n.*2790A>T)
n.4176A>T
c.1985A>T (p.Asp662Val)
c.4106A>T (p.Asp1369Val)
c.3377A>T (p.Asp1126Val)
c.2537A>T (p.Asp846Val)
16g.1510981T>CCA7812777IFT140c.4352A>G (p.Asp1451Gly)
c.1934A>G (p.Asp645Gly)
c.*2790A>G (n.*2790A>G)
n.4176A>G
c.1985A>G (p.Asp662Gly)
c.4106A>G (p.Asp1369Gly)
c.3377A>G (p.Asp1126Gly)
c.2537A>G (p.Asp846Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.1510981T>GCA394222252IFT140c.4352A>C (p.Asp1451Ala)
c.1934A>C (p.Asp645Ala)
c.*2790A>C (n.*2790A>C)
n.4176A>C
c.1985A>C (p.Asp662Ala)
c.4106A>C (p.Asp1369Ala)
c.3377A>C (p.Asp1126Ala)
c.2537A>C (p.Asp846Ala)
16g.1510981T=CA2201718359IFT140c.4352A= (p.Asp1451=)
c.1934A= (p.Asp645=)
c.*2790A= (n.*2790A=)
n.4176A=
c.1985A= (p.Asp662=)
c.4106A= (p.Asp1369=)
c.3377A= (p.Asp1126=)
c.2537A= (p.Asp846=)
16g.1510982C>ACA394222253IFT140c.4351G>T (p.Asp1451Tyr)
c.1933G>T (p.Asp645Tyr)
c.*2789G>T (n.*2789G>T)
n.4175G>T
c.1984G>T (p.Asp662Tyr)
c.4105G>T (p.Asp1369Tyr)
c.3376G>T (p.Asp1126Tyr)
c.2536G>T (p.Asp846Tyr)
16g.1510982C=CA2201718360IFT140c.4351G= (p.Asp1451=)
c.1933G= (p.Asp645=)
c.*2789G= (n.*2789G=)
n.4175G=
c.1984G= (p.Asp662=)
c.4105G= (p.Asp1369=)
c.3376G= (p.Asp1126=)
c.2536G= (p.Asp846=)
16g.1510982C>GCA394222254IFT140c.4351G>C (p.Asp1451His)
c.1933G>C (p.Asp645His)
c.*2789G>C (n.*2789G>C)
n.4175G>C
c.1984G>C (p.Asp662His)
c.4105G>C (p.Asp1369His)
c.3376G>C (p.Asp1126His)
c.2536G>C (p.Asp846His)
 dbSNP gnomAD v2
16g.1510982C>TCA394222255IFT140c.4351G>A (p.Asp1451Asn)
c.1933G>A (p.Asp645Asn)
c.*2789G>A (n.*2789G>A)
n.4175G>A
c.1984G>A (p.Asp662Asn)
c.4105G>A (p.Asp1369Asn)
c.3376G>A (p.Asp1126Asn)
c.2536G>A (p.Asp846Asn)
16g.1510983C>ACA493031351IFT140c.4350G>T (p.Leu1450=)
c.1932G>T (p.Leu644=)
c.*2788G>T (n.*2788G>T)
n.4174G>T
c.1983G>T (p.Leu661=)
c.4104G>T (p.Leu1368=)
c.3375G>T (p.Leu1125=)
c.2535G>T (p.Leu845=)
16g.1510983C=CA2201718361IFT140c.4350G= (p.Leu1450=)
c.1932G= (p.Leu644=)
c.*2788G= (n.*2788G=)
n.4174G=
c.1983G= (p.Leu661=)
c.4104G= (p.Leu1368=)
c.3375G= (p.Leu1125=)
c.2535G= (p.Leu845=)
16g.1510983C>GCA493031352IFT140c.4350G>C (p.Leu1450=)
c.1932G>C (p.Leu644=)
c.*2788G>C (n.*2788G>C)
n.4174G>C
c.1983G>C (p.Leu661=)
c.4104G>C (p.Leu1368=)
c.3375G>C (p.Leu1125=)
c.2535G>C (p.Leu845=)
16g.1510983C>TCA7812778IFT140c.4350G>A (p.Leu1450=)
c.1932G>A (p.Leu644=)
c.*2788G>A (n.*2788G>A)
n.4174G>A
c.1983G>A (p.Leu661=)
c.4104G>A (p.Leu1368=)
c.3375G>A (p.Leu1125=)
c.2535G>A (p.Leu845=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1510984A>CCA394222256IFT140c.4349T>G (p.Leu1450Arg)
c.1931T>G (p.Leu644Arg)
c.*2787T>G (n.*2787T>G)
n.4173T>G
c.1982T>G (p.Leu661Arg)
c.4103T>G (p.Leu1368Arg)
c.3374T>G (p.Leu1125Arg)
c.2534T>G (p.Leu845Arg)
16g.1510984A>GCA394222257IFT140c.4349T>C (p.Leu1450Pro)
c.1931T>C (p.Leu644Pro)
c.*2787T>C (n.*2787T>C)
n.4173T>C
c.1982T>C (p.Leu661Pro)
c.4103T>C (p.Leu1368Pro)
c.3374T>C (p.Leu1125Pro)
c.2534T>C (p.Leu845Pro)
16g.1510984A>TCA394222258IFT140c.4349T>A (p.Leu1450Gln)
c.1931T>A (p.Leu644Gln)
c.*2787T>A (n.*2787T>A)
n.4173T>A
c.1982T>A (p.Leu661Gln)
c.4103T>A (p.Leu1368Gln)
c.3374T>A (p.Leu1125Gln)
c.2534T>A (p.Leu845Gln)
16g.1510985G>ACA493031353IFT140c.4348C>T (p.Leu1450=)
c.1930C>T (p.Leu644=)
c.*2786C>T (n.*2786C>T)
n.4172C>T
c.1981C>T (p.Leu661=)
c.4102C>T (p.Leu1368=)
c.3373C>T (p.Leu1125=)
c.2533C>T (p.Leu845=)
 dbSNP gnomAD v4
16g.1510985G>CCA394222259IFT140c.4348C>G (p.Leu1450Val)
c.1930C>G (p.Leu644Val)
c.*2786C>G (n.*2786C>G)
n.4172C>G
c.1981C>G (p.Leu661Val)
c.4102C>G (p.Leu1368Val)
c.3373C>G (p.Leu1125Val)
c.2533C>G (p.Leu845Val)
16g.1510985G=CA2201718362IFT140c.4348C= (p.Leu1450=)
c.1930C= (p.Leu644=)
c.*2786C= (n.*2786C=)
n.4172C=
c.1981C= (p.Leu661=)
c.4102C= (p.Leu1368=)
c.3373C= (p.Leu1125=)
c.2533C= (p.Leu845=)
16g.1510985G>TCA394222260IFT140c.4348C>A (p.Leu1450Met)
c.1930C>A (p.Leu644Met)
c.*2786C>A (n.*2786C>A)
n.4172C>A
c.1981C>A (p.Leu661Met)
c.4102C>A (p.Leu1368Met)
c.3373C>A (p.Leu1125Met)
c.2533C>A (p.Leu845Met)
16g.1510986C>ACA394222262IFT140c.4347G>T (p.Glu1449Asp)
c.1929G>T (p.Glu643Asp)
c.*2785G>T (n.*2785G>T)
n.4171G>T
c.1980G>T (p.Glu660Asp)
c.4101G>T (p.Glu1367Asp)
c.3372G>T (p.Glu1124Asp)
c.2532G>T (p.Glu844Asp)
16g.1510986C>GCA394222261IFT140c.4347G>C (p.Glu1449Asp)
c.1929G>C (p.Glu643Asp)
c.*2785G>C (n.*2785G>C)
n.4171G>C
c.1980G>C (p.Glu660Asp)
c.4101G>C (p.Glu1367Asp)
c.3372G>C (p.Glu1124Asp)
c.2532G>C (p.Glu844Asp)
16g.1510986C>TCA493031357IFT140c.4347G>A (p.Glu1449=)
c.1929G>A (p.Glu643=)
c.*2785G>A (n.*2785G>A)
n.4171G>A
c.1980G>A (p.Glu660=)
c.4101G>A (p.Glu1367=)
c.3372G>A (p.Glu1124=)
c.2532G>A (p.Glu844=)
16g.1510987T>ACA394222263IFT140c.4346A>T (p.Glu1449Val)
c.1928A>T (p.Glu643Val)
c.*2784A>T (n.*2784A>T)
n.4170A>T
c.1979A>T (p.Glu660Val)
c.4100A>T (p.Glu1367Val)
c.3371A>T (p.Glu1124Val)
c.2531A>T (p.Glu844Val)
16g.1510987T>CCA394222264IFT140c.4346A>G (p.Glu1449Gly)
c.1928A>G (p.Glu643Gly)
c.*2784A>G (n.*2784A>G)
n.4170A>G
c.1979A>G (p.Glu660Gly)
c.4100A>G (p.Glu1367Gly)
c.3371A>G (p.Glu1124Gly)
c.2531A>G (p.Glu844Gly)
16g.1510987T>GCA394222265IFT140c.4346A>C (p.Glu1449Ala)
c.1928A>C (p.Glu643Ala)
c.*2784A>C (n.*2784A>C)
n.4170A>C
c.1979A>C (p.Glu660Ala)
c.4100A>C (p.Glu1367Ala)
c.3371A>C (p.Glu1124Ala)
c.2531A>C (p.Glu844Ala)
16g.1510988C>ACA394222266IFT140c.4345G>T (p.Glu1449Ter)
c.1927G>T (p.Glu643Ter)
c.*2783G>T (n.*2783G>T)
n.4169G>T
c.1978G>T (p.Glu660Ter)
c.4099G>T (p.Glu1367Ter)
c.3370G>T (p.Glu1124Ter)
c.2530G>T (p.Glu844Ter)
16g.1510988C=CA2201718363IFT140c.4345G= (p.Glu1449=)
c.1927G= (p.Glu643=)
c.*2783G= (n.*2783G=)
n.4169G=
c.1978G= (p.Glu660=)
c.4099G= (p.Glu1367=)
c.3370G= (p.Glu1124=)
c.2530G= (p.Glu844=)
16g.1510988C>GCA394222267IFT140c.4345G>C (p.Glu1449Gln)
c.1927G>C (p.Glu643Gln)
c.*2783G>C (n.*2783G>C)
n.4169G>C
c.1978G>C (p.Glu660Gln)
c.4099G>C (p.Glu1367Gln)
c.3370G>C (p.Glu1124Gln)
c.2530G>C (p.Glu844Gln)
16g.1510988C>TCA394222268IFT140c.4345G>A (p.Glu1449Lys)
c.1927G>A (p.Glu643Lys)
c.*2783G>A (n.*2783G>A)
n.4169G>A
c.1978G>A (p.Glu660Lys)
c.4099G>A (p.Glu1367Lys)
c.3370G>A (p.Glu1124Lys)
c.2530G>A (p.Glu844Lys)
 dbSNP gnomAD v4
16g.1510989C>ACA394222269IFT140c.4344G>T (p.Arg1448Ser)
c.1926G>T (p.Arg642Ser)
c.*2782G>T (n.*2782G>T)
n.4168G>T
c.1977G>T (p.Arg659Ser)
c.4098G>T (p.Arg1366Ser)
c.3369G>T (p.Arg1123Ser)
c.2529G>T (p.Arg843Ser)
16g.1510989C>GCA394222270IFT140c.4344G>C (p.Arg1448Ser)
c.1926G>C (p.Arg642Ser)
c.*2782G>C (n.*2782G>C)
n.4168G>C
c.1977G>C (p.Arg659Ser)
c.4098G>C (p.Arg1366Ser)
c.3369G>C (p.Arg1123Ser)
c.2529G>C (p.Arg843Ser)
16g.1510989C>TCA493031362IFT140c.4344G>A (p.Arg1448=)
c.1926G>A (p.Arg642=)
c.*2782G>A (n.*2782G>A)
n.4168G>A
c.1977G>A (p.Arg659=)
c.4098G>A (p.Arg1366=)
c.3369G>A (p.Arg1123=)
c.2529G>A (p.Arg843=)
16g.1510990C>ACA394222271IFT140c.4343G>T (p.Arg1448Met)
c.1925G>T (p.Arg642Met)
c.*2781G>T (n.*2781G>T)
n.4167G>T
c.1976G>T (p.Arg659Met)
c.4097G>T (p.Arg1366Met)
c.3368G>T (p.Arg1123Met)
c.2528G>T (p.Arg843Met)
16g.1510990C>GCA394222272IFT140c.4343G>C (p.Arg1448Thr)
c.1925G>C (p.Arg642Thr)
c.*2781G>C (n.*2781G>C)
n.4167G>C
c.1976G>C (p.Arg659Thr)
c.4097G>C (p.Arg1366Thr)
c.3368G>C (p.Arg1123Thr)
c.2528G>C (p.Arg843Thr)
16g.1510990C>TCA394222273IFT140c.4343G>A (p.Arg1448Lys)
c.1925G>A (p.Arg642Lys)
c.*2781G>A (n.*2781G>A)
n.4167G>A
c.1976G>A (p.Arg659Lys)
c.4097G>A (p.Arg1366Lys)
c.3368G>A (p.Arg1123Lys)
c.2528G>A (p.Arg843Lys)
16g.1510991T>ACA394222274IFT140c.4342A>T (p.Arg1448Trp)
c.1924A>T (p.Arg642Trp)
c.*2780A>T (n.*2780A>T)
n.4166A>T
c.1975A>T (p.Arg659Trp)
c.4096A>T (p.Arg1366Trp)
c.3367A>T (p.Arg1123Trp)
c.2527A>T (p.Arg843Trp)
16g.1510991T>CCA394222275IFT140c.4342A>G (p.Arg1448Gly)
c.1924A>G (p.Arg642Gly)
c.*2780A>G (n.*2780A>G)
n.4166A>G
c.1975A>G (p.Arg659Gly)
c.4096A>G (p.Arg1366Gly)
c.3367A>G (p.Arg1123Gly)
c.2527A>G (p.Arg843Gly)
16g.1510991T>GCA493031366IFT140c.4342A>C (p.Arg1448=)
c.1924A>C (p.Arg642=)
c.*2780A>C (n.*2780A>C)
n.4166A>C
c.1975A>C (p.Arg659=)
c.4096A>C (p.Arg1366=)
c.3367A>C (p.Arg1123=)
c.2527A>C (p.Arg843=)
16g.1510991_1510992delinsTGCA2201718364IFT140c.4341_4342delinsCA (p.Ala1447=)
c.1923_1924delinsCA (p.Ala641=)
c.*2779_*2780delinsCA (n.*2779_*2780delinsCA)
n.4165_4166delinsCA
c.1974_1975delinsCA (p.Ala658=)
c.4095_4096delinsCA (p.Ala1365=)
c.3366_3367delinsCA (p.Ala1122=)
c.2526_2527delinsCA (p.Ala842=)
16g.1510992G>ACA493031372IFT140c.4341C>T (p.Ala1447=)
c.1923C>T (p.Ala641=)
c.*2779C>T (n.*2779C>T)
n.4165C>T
c.1974C>T (p.Ala658=)
c.4095C>T (p.Ala1365=)
c.3366C>T (p.Ala1122=)
c.2526C>T (p.Ala842=)
 gnomAD v4
16g.1510992G>CCA493031371IFT140c.4341C>G (p.Ala1447=)
c.1923C>G (p.Ala641=)
c.*2779C>G (n.*2779C>G)
n.4165C>G
c.1974C>G (p.Ala658=)
c.4095C>G (p.Ala1365=)
c.3366C>G (p.Ala1122=)
c.2526C>G (p.Ala842=)
16g.1510992G>TCA493031369IFT140c.4341C>A (p.Ala1447=)
c.1923C>A (p.Ala641=)
c.*2779C>A (n.*2779C>A)
n.4165C>A
c.1974C>A (p.Ala658=)
c.4095C>A (p.Ala1365=)
c.3366C>A (p.Ala1122=)
c.2526C>A (p.Ala842=)
16g.1510993delCA620700848IFT140c.4341del (p.Arg1448GlyfsTer?)
c.1923del (p.Arg642GlyfsTer?)
c.*2779del (n.*2779del)
n.4165del
c.1974del (p.Arg659GlyfsTer?)
c.4095del (p.Arg1366GlyfsTer?)
c.3366del (p.Arg1123GlyfsTer?)
c.2526del (p.Arg843GlyfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.1510993G>ACA394222278IFT140c.4340C>T (p.Ala1447Val)
c.1922C>T (p.Ala641Val)
c.*2778C>T (n.*2778C>T)
n.4164C>T
c.1973C>T (p.Ala658Val)
c.4094C>T (p.Ala1365Val)
c.3365C>T (p.Ala1122Val)
c.2525C>T (p.Ala842Val)
16g.1510993G>CCA394222277IFT140c.4340C>G (p.Ala1447Gly)
c.1922C>G (p.Ala641Gly)
c.*2778C>G (n.*2778C>G)
n.4164C>G
c.1973C>G (p.Ala658Gly)
c.4094C>G (p.Ala1365Gly)
c.3365C>G (p.Ala1122Gly)
c.2525C>G (p.Ala842Gly)
16g.1510993G>TCA394222276IFT140c.4340C>A (p.Ala1447Asp)
c.1922C>A (p.Ala641Asp)
c.*2778C>A (n.*2778C>A)
n.4164C>A
c.1973C>A (p.Ala658Asp)
c.4094C>A (p.Ala1365Asp)
c.3365C>A (p.Ala1122Asp)
c.2525C>A (p.Ala842Asp)
16g.1510994C>ACA394222279IFT140c.4339G>T (p.Ala1447Ser)
c.1921G>T (p.Ala641Ser)
c.*2777G>T (n.*2777G>T)
n.4163G>T
c.1972G>T (p.Ala658Ser)
c.4093G>T (p.Ala1365Ser)
c.3364G>T (p.Ala1122Ser)
c.2524G>T (p.Ala842Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.1510994C=CA2201718365IFT140c.4339G= (p.Ala1447=)
c.1921G= (p.Ala641=)
c.*2777G= (n.*2777G=)
n.4163G=
c.1972G= (p.Ala658=)
c.4093G= (p.Ala1365=)
c.3364G= (p.Ala1122=)
c.2524G= (p.Ala842=)
16g.1510994C>GCA394222280IFT140c.4339G>C (p.Ala1447Pro)
c.1921G>C (p.Ala641Pro)
c.*2777G>C (n.*2777G>C)
n.4163G>C
c.1972G>C (p.Ala658Pro)
c.4093G>C (p.Ala1365Pro)
c.3364G>C (p.Ala1122Pro)
c.2524G>C (p.Ala842Pro)
16g.1510994C>TCA7812779IFT140c.4339G>A (p.Ala1447Thr)
c.1921G>A (p.Ala641Thr)
c.*2777G>A (n.*2777G>A)
n.4163G>A
c.1972G>A (p.Ala658Thr)
c.4093G>A (p.Ala1365Thr)
c.3364G>A (p.Ala1122Thr)
c.2524G>A (p.Ala842Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1510995G>ACA7812780IFT140c.4338C>T (p.Asp1446=)
c.1920C>T (p.Asp640=)
c.*2776C>T (n.*2776C>T)
n.4162C>T
c.1971C>T (p.Asp657=)
c.4092C>T (p.Asp1364=)
c.3363C>T (p.Asp1121=)
c.2523C>T (p.Asp841=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1510995G>CCA394222281IFT140c.4338C>G (p.Asp1446Glu)
c.1920C>G (p.Asp640Glu)
c.*2776C>G (n.*2776C>G)
n.4162C>G
c.1971C>G (p.Asp657Glu)
c.4092C>G (p.Asp1364Glu)
c.3363C>G (p.Asp1121Glu)
c.2523C>G (p.Asp841Glu)
16g.1510995G=CA2201718366IFT140c.4338C= (p.Asp1446=)
c.1920C= (p.Asp640=)
c.*2776C= (n.*2776C=)
n.4162C=
c.1971C= (p.Asp657=)
c.4092C= (p.Asp1364=)
c.3363C= (p.Asp1121=)
c.2523C= (p.Asp841=)
16g.1510995G>TCA394222282IFT140c.4338C>A (p.Asp1446Glu)
c.1920C>A (p.Asp640Glu)
c.*2776C>A (n.*2776C>A)
n.4162C>A
c.1971C>A (p.Asp657Glu)
c.4092C>A (p.Asp1364Glu)
c.3363C>A (p.Asp1121Glu)
c.2523C>A (p.Asp841Glu)
16g.1510996T>ACA394222283IFT140c.4337A>T (p.Asp1446Val)
c.1919A>T (p.Asp640Val)
c.*2775A>T (n.*2775A>T)
n.4161A>T
c.1970A>T (p.Asp657Val)
c.4091A>T (p.Asp1364Val)
c.3362A>T (p.Asp1121Val)
c.2522A>T (p.Asp841Val)
16g.1510996T>CCA394222284IFT140c.4337A>G (p.Asp1446Gly)
c.1919A>G (p.Asp640Gly)
c.*2775A>G (n.*2775A>G)
n.4161A>G
c.1970A>G (p.Asp657Gly)
c.4091A>G (p.Asp1364Gly)
c.3362A>G (p.Asp1121Gly)
c.2522A>G (p.Asp841Gly)
16g.1510996T>GCA394222285IFT140c.4337A>C (p.Asp1446Ala)
c.1919A>C (p.Asp640Ala)
c.*2775A>C (n.*2775A>C)
n.4161A>C
c.1970A>C (p.Asp657Ala)
c.4091A>C (p.Asp1364Ala)
c.3362A>C (p.Asp1121Ala)
c.2522A>C (p.Asp841Ala)
16g.1510996_1510997insTGGGGATCGCGCCCCAGCCCA2805557712IFT140c.4336_4337insGGCTGGGGCGCGATCCCCA (p.Asp1446GlyfsTer21)
c.1918_1919insGGCTGGGGCGCGATCCCCA (p.Asp640GlyfsTer21)
c.*2774_*2775insGGCTGGGGCGCGATCCCCA (n.*2774_*2775insGGCTGGGGCGCGATCCCCA)
n.4160_4161insGGCTGGGGCGCGATCCCCA
c.1969_1970insGGCTGGGGCGCGATCCCCA (p.Asp657GlyfsTer21)
c.4090_4091insGGCTGGGGCGCGATCCCCA (p.Asp1364GlyfsTer21)
c.3361_3362insGGCTGGGGCGCGATCCCCA (p.Asp1121GlyfsTer21)
c.2521_2522insGGCTGGGGCGCGATCCCCA (p.Asp841GlyfsTer21)
16g.1510997C>ACA394222286IFT140c.4336G>T (p.Asp1446Tyr)
c.1918G>T (p.Asp640Tyr)
c.*2774G>T (n.*2774G>T)
n.4160G>T
c.1969G>T (p.Asp657Tyr)
c.4090G>T (p.Asp1364Tyr)
c.3361G>T (p.Asp1121Tyr)
c.2521G>T (p.Asp841Tyr)
16g.1510997C=CA2201718367IFT140c.4336G= (p.Asp1446=)
c.1918G= (p.Asp640=)
c.*2774G= (n.*2774G=)
n.4160G=
c.1969G= (p.Asp657=)
c.4090G= (p.Asp1364=)
c.3361G= (p.Asp1121=)
c.2521G= (p.Asp841=)
16g.1510997C>GCA394222287IFT140c.4336G>C (p.Asp1446His)
c.1918G>C (p.Asp640His)
c.*2774G>C (n.*2774G>C)
n.4160G>C
c.1969G>C (p.Asp657His)
c.4090G>C (p.Asp1364His)
c.3361G>C (p.Asp1121His)
c.2521G>C (p.Asp841His)
16g.1510997C>TCA7812781IFT140c.4336G>A (p.Asp1446Asn)
c.1918G>A (p.Asp640Asn)
c.*2774G>A (n.*2774G>A)
n.4160G>A
c.1969G>A (p.Asp657Asn)
c.4090G>A (p.Asp1364Asn)
c.3361G>A (p.Asp1121Asn)
c.2521G>A (p.Asp841Asn)
 dbSNP ExAC gnomAD v4
16g.1510998C>ACA394222288IFT140c.4335G>T (p.Glu1445Asp)
c.1917G>T (p.Glu639Asp)
c.*2773G>T (n.*2773G>T)
n.4159G>T
c.1968G>T (p.Glu656Asp)
c.4089G>T (p.Glu1363Asp)
c.3360G>T (p.Glu1120Asp)
c.2520G>T (p.Glu840Asp)
16g.1510998C>GCA394222289IFT140c.4335G>C (p.Glu1445Asp)
c.1917G>C (p.Glu639Asp)
c.*2773G>C (n.*2773G>C)
n.4159G>C
c.1968G>C (p.Glu656Asp)
c.4089G>C (p.Glu1363Asp)
c.3360G>C (p.Glu1120Asp)
c.2520G>C (p.Glu840Asp)
16g.1510998C>TCA493031379IFT140c.4335G>A (p.Glu1445=)
c.1917G>A (p.Glu639=)
c.*2773G>A (n.*2773G>A)
n.4159G>A
c.1968G>A (p.Glu656=)
c.4089G>A (p.Glu1363=)
c.3360G>A (p.Glu1120=)
c.2520G>A (p.Glu840=)
 dbSNP gnomAD v4
16g.1510999T>ACA394222291IFT140c.4334A>T (p.Glu1445Val)
c.1916A>T (p.Glu639Val)
c.*2772A>T (n.*2772A>T)
n.4158A>T
c.1967A>T (p.Glu656Val)
c.4088A>T (p.Glu1363Val)
c.3359A>T (p.Glu1120Val)
c.2519A>T (p.Glu840Val)
16g.1510999T>CCA394222292IFT140c.4334A>G (p.Glu1445Gly)
c.1916A>G (p.Glu639Gly)
c.*2772A>G (n.*2772A>G)
n.4158A>G
c.1967A>G (p.Glu656Gly)
c.4088A>G (p.Glu1363Gly)
c.3359A>G (p.Glu1120Gly)
c.2519A>G (p.Glu840Gly)
16g.1510999T>GCA394222290IFT140c.4334A>C (p.Glu1445Ala)
c.1916A>C (p.Glu639Ala)
c.*2772A>C (n.*2772A>C)
n.4158A>C
c.1967A>C (p.Glu656Ala)
c.4088A>C (p.Glu1363Ala)
c.3359A>C (p.Glu1120Ala)
c.2519A>C (p.Glu840Ala)
16g.1510999_1511000insGCCCGTCGTGGCCGCCGGCGCCCTCCTGACCGCA2805557714IFT140c.4333_4334insCGGTCAGGAGGGCGCCGGCGGCCACGACGGGC (p.Glu1445AlafsTer?)
c.1915_1916insCGGTCAGGAGGGCGCCGGCGGCCACGACGGGC (p.Glu639AlafsTer?)
c.*2771_*2772insCGGTCAGGAGGGCGCCGGCGGCCACGACGGGC (n.*2771_*2772insCGGTCAGGAGGGCGCCGGCGGCCACGACGGGC)
n.4157_4158insCGGTCAGGAGGGCGCCGGCGGCCACGACGGGC
c.1966_1967insCGGTCAGGAGGGCGCCGGCGGCCACGACGGGC (p.Glu656AlafsTer?)
c.4087_4088insCGGTCAGGAGGGCGCCGGCGGCCACGACGGGC (p.Glu1363AlafsTer?)
c.3358_3359insCGGTCAGGAGGGCGCCGGCGGCCACGACGGGC (p.Glu1120AlafsTer?)
c.2518_2519insCGGTCAGGAGGGCGCCGGCGGCCACGACGGGC (p.Glu840AlafsTer?)
16g.1511000C>ACA7812782IFT140c.4333G>T (p.Glu1445Ter)
c.1915G>T (p.Glu639Ter)
c.*2771G>T (n.*2771G>T)
n.4157G>T
c.1966G>T (p.Glu656Ter)
c.4087G>T (p.Glu1363Ter)
c.3358G>T (p.Glu1120Ter)
c.2518G>T (p.Glu840Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1511000C=CA2201718368IFT140c.4333G= (p.Glu1445=)
c.1915G= (p.Glu639=)
c.*2771G= (n.*2771G=)
n.4157G=
c.1966G= (p.Glu656=)
c.4087G= (p.Glu1363=)
c.3358G= (p.Glu1120=)
c.2518G= (p.Glu840=)
16g.1511000C>GCA394222293IFT140c.4333G>C (p.Glu1445Gln)
c.1915G>C (p.Glu639Gln)
c.*2771G>C (n.*2771G>C)
n.4157G>C
c.1966G>C (p.Glu656Gln)
c.4087G>C (p.Glu1363Gln)
c.3358G>C (p.Glu1120Gln)
c.2518G>C (p.Glu840Gln)
16g.1511000C>TCA394222294IFT140c.4333G>A (p.Glu1445Lys)
c.1915G>A (p.Glu639Lys)
c.*2771G>A (n.*2771G>A)
n.4157G>A
c.1966G>A (p.Glu656Lys)
c.4087G>A (p.Glu1363Lys)
c.3358G>A (p.Glu1120Lys)
c.2518G>A (p.Glu840Lys)
16g.1511001C>ACA394222295IFT140c.4332G>T (p.Met1444Ile)
c.1914G>T (p.Met638Ile)
c.*2770G>T (n.*2770G>T)
n.4156G>T
c.1965G>T (p.Met655Ile)
c.4086G>T (p.Met1362Ile)
c.3357G>T (p.Met1119Ile)
c.2517G>T (p.Met839Ile)
16g.1511001C>GCA394222296IFT140c.4332G>C (p.Met1444Ile)
c.1914G>C (p.Met638Ile)
c.*2770G>C (n.*2770G>C)
n.4156G>C
c.1965G>C (p.Met655Ile)
c.4086G>C (p.Met1362Ile)
c.3357G>C (p.Met1119Ile)
c.2517G>C (p.Met839Ile)
16g.1511001C>TCA394222297IFT140c.4332G>A (p.Met1444Ile)
c.1914G>A (p.Met638Ile)
c.*2770G>A (n.*2770G>A)
n.4156G>A
c.1965G>A (p.Met655Ile)
c.4086G>A (p.Met1362Ile)
c.3357G>A (p.Met1119Ile)
c.2517G>A (p.Met839Ile)
16g.1511002A>CCA394222300IFT140c.4331T>G (p.Met1444Arg)
c.1913T>G (p.Met638Arg)
c.*2769T>G (n.*2769T>G)
n.4155T>G
c.1964T>G (p.Met655Arg)
c.4085T>G (p.Met1362Arg)
c.3356T>G (p.Met1119Arg)
c.2516T>G (p.Met839Arg)
 gnomAD v4
16g.1511002A>GCA394222298IFT140c.4331T>C (p.Met1444Thr)
c.1913T>C (p.Met638Thr)
c.*2769T>C (n.*2769T>C)
n.4155T>C
c.1964T>C (p.Met655Thr)
c.4085T>C (p.Met1362Thr)
c.3356T>C (p.Met1119Thr)
c.2516T>C (p.Met839Thr)
 gnomAD v4
16g.1511002A>TCA394222299IFT140c.4331T>A (p.Met1444Lys)
c.1913T>A (p.Met638Lys)
c.*2769T>A (n.*2769T>A)
n.4155T>A
c.1964T>A (p.Met655Lys)
c.4085T>A (p.Met1362Lys)
c.3356T>A (p.Met1119Lys)
c.2516T>A (p.Met839Lys)
16g.1511003T>ACA394222301IFT140c.4330A>T (p.Met1444Leu)
c.1912A>T (p.Met638Leu)
c.*2768A>T (n.*2768A>T)
n.4154A>T
c.1963A>T (p.Met655Leu)
c.4084A>T (p.Met1362Leu)
c.3355A>T (p.Met1119Leu)
c.2515A>T (p.Met839Leu)
16g.1511003T>CCA7812783IFT140c.4330A>G (p.Met1444Val)
c.1912A>G (p.Met638Val)
c.*2768A>G (n.*2768A>G)
n.4154A>G
c.1963A>G (p.Met655Val)
c.4084A>G (p.Met1362Val)
c.3355A>G (p.Met1119Val)
c.2515A>G (p.Met839Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511003T>GCA394222302IFT140c.4330A>C (p.Met1444Leu)
c.1912A>C (p.Met638Leu)
c.*2768A>C (n.*2768A>C)
n.4154A>C
c.1963A>C (p.Met655Leu)
c.4084A>C (p.Met1362Leu)
c.3355A>C (p.Met1119Leu)
c.2515A>C (p.Met839Leu)
16g.1511003T=CA2201718369IFT140c.4330A= (p.Met1444=)
c.1912A= (p.Met638=)
c.*2768A= (n.*2768A=)
n.4154A=
c.1963A= (p.Met655=)
c.4084A= (p.Met1362=)
c.3355A= (p.Met1119=)
c.2515A= (p.Met839=)
16g.1511004G>ACA493031381IFT140c.4329C>T (p.Ser1443=)
c.1911C>T (p.Ser637=)
c.*2767C>T (n.*2767C>T)
n.4153C>T
c.1962C>T (p.Ser654=)
c.4083C>T (p.Ser1361=)
c.3354C>T (p.Ser1118=)
c.2514C>T (p.Ser838=)
16g.1511004G>CCA394222303IFT140c.4329C>G (p.Ser1443Arg)
c.1911C>G (p.Ser637Arg)
c.*2767C>G (n.*2767C>G)
n.4153C>G
c.1962C>G (p.Ser654Arg)
c.4083C>G (p.Ser1361Arg)
c.3354C>G (p.Ser1118Arg)
c.2514C>G (p.Ser838Arg)
16g.1511004G>TCA394222304IFT140c.4329C>A (p.Ser1443Arg)
c.1911C>A (p.Ser637Arg)
c.*2767C>A (n.*2767C>A)
n.4153C>A
c.1962C>A (p.Ser654Arg)
c.4083C>A (p.Ser1361Arg)
c.3354C>A (p.Ser1118Arg)
c.2514C>A (p.Ser838Arg)
16g.1511005C>ACA394222305IFT140c.4328G>T (p.Ser1443Ile)
c.1910G>T (p.Ser637Ile)
c.*2766G>T (n.*2766G>T)
n.4152G>T
c.1961G>T (p.Ser654Ile)
c.4082G>T (p.Ser1361Ile)
c.3353G>T (p.Ser1118Ile)
c.2513G>T (p.Ser838Ile)
16g.1511005C>GCA394222307IFT140c.4328G>C (p.Ser1443Thr)
c.1910G>C (p.Ser637Thr)
c.*2766G>C (n.*2766G>C)
n.4152G>C
c.1961G>C (p.Ser654Thr)
c.4082G>C (p.Ser1361Thr)
c.3353G>C (p.Ser1118Thr)
c.2513G>C (p.Ser838Thr)
16g.1511005C>TCA394222306IFT140c.4328G>A (p.Ser1443Asn)
c.1910G>A (p.Ser637Asn)
c.*2766G>A (n.*2766G>A)
n.4152G>A
c.1961G>A (p.Ser654Asn)
c.4082G>A (p.Ser1361Asn)
c.3353G>A (p.Ser1118Asn)
c.2513G>A (p.Ser838Asn)
 gnomAD v4
16g.1511006T>ACA394222308IFT140c.4327A>T (p.Ser1443Cys)
c.1909A>T (p.Ser637Cys)
c.*2765A>T (n.*2765A>T)
n.4151A>T
c.1960A>T (p.Ser654Cys)
c.4081A>T (p.Ser1361Cys)
c.3352A>T (p.Ser1118Cys)
c.2512A>T (p.Ser838Cys)
 dbSNP gnomAD v3 gnomAD v4
16g.1511006T>CCA394222309IFT140c.4327A>G (p.Ser1443Gly)
c.1909A>G (p.Ser637Gly)
c.*2765A>G (n.*2765A>G)
n.4151A>G
c.1960A>G (p.Ser654Gly)
c.4081A>G (p.Ser1361Gly)
c.3352A>G (p.Ser1118Gly)
c.2512A>G (p.Ser838Gly)
 dbSNP
16g.1511006T>GCA394222310IFT140c.4327A>C (p.Ser1443Arg)
c.1909A>C (p.Ser637Arg)
c.*2765A>C (n.*2765A>C)
n.4151A>C
c.1960A>C (p.Ser654Arg)
c.4081A>C (p.Ser1361Arg)
c.3352A>C (p.Ser1118Arg)
c.2512A>C (p.Ser838Arg)
16g.1511006T=CA2201718370IFT140c.4327A= (p.Ser1443=)
c.1909A= (p.Ser637=)
c.*2765A= (n.*2765A=)
n.4151A=
c.1960A= (p.Ser654=)
c.4081A= (p.Ser1361=)
c.3352A= (p.Ser1118=)
c.2512A= (p.Ser838=)
16g.1511007G>ACA493031384IFT140c.4326C>T (p.Asn1442=)
c.1908C>T (p.Asn636=)
c.*2764C>T (n.*2764C>T)
n.4150C>T
c.1959C>T (p.Asn653=)
c.4080C>T (p.Asn1360=)
c.3351C>T (p.Asn1117=)
c.2511C>T (p.Asn837=)
 dbSNP
16g.1511007G>CCA394222311IFT140c.4326C>G (p.Asn1442Lys)
c.1908C>G (p.Asn636Lys)
c.*2764C>G (n.*2764C>G)
n.4150C>G
c.1959C>G (p.Asn653Lys)
c.4080C>G (p.Asn1360Lys)
c.3351C>G (p.Asn1117Lys)
c.2511C>G (p.Asn837Lys)
16g.1511007G=CA2201718371IFT140c.4326C= (p.Asn1442=)
c.1908C= (p.Asn636=)
c.*2764C= (n.*2764C=)
n.4150C=
c.1959C= (p.Asn653=)
c.4080C= (p.Asn1360=)
c.3351C= (p.Asn1117=)
c.2511C= (p.Asn837=)
16g.1511007G>TCA394222312IFT140c.4326C>A (p.Asn1442Lys)
c.1908C>A (p.Asn636Lys)
c.*2764C>A (n.*2764C>A)
n.4150C>A
c.1959C>A (p.Asn653Lys)
c.4080C>A (p.Asn1360Lys)
c.3351C>A (p.Asn1117Lys)
c.2511C>A (p.Asn837Lys)
16g.1511008T>ACA394222313IFT140c.4325A>T (p.Asn1442Ile)
c.1907A>T (p.Asn636Ile)
c.*2763A>T (n.*2763A>T)
n.4149A>T
c.1958A>T (p.Asn653Ile)
c.4079A>T (p.Asn1360Ile)
c.3350A>T (p.Asn1117Ile)
c.2510A>T (p.Asn837Ile)
16g.1511008T>CCA394222314IFT140c.4325A>G (p.Asn1442Ser)
c.1907A>G (p.Asn636Ser)
c.*2763A>G (n.*2763A>G)
n.4149A>G
c.1958A>G (p.Asn653Ser)
c.4079A>G (p.Asn1360Ser)
c.3350A>G (p.Asn1117Ser)
c.2510A>G (p.Asn837Ser)
16g.1511008T>GCA394222315IFT140c.4325A>C (p.Asn1442Thr)
c.1907A>C (p.Asn636Thr)
c.*2763A>C (n.*2763A>C)
n.4149A>C
c.1958A>C (p.Asn653Thr)
c.4079A>C (p.Asn1360Thr)
c.3350A>C (p.Asn1117Thr)
c.2510A>C (p.Asn837Thr)
16g.1511009T>ACA394222316IFT140c.4324A>T (p.Asn1442Tyr)
c.1906A>T (p.Asn636Tyr)
c.*2762A>T (n.*2762A>T)
n.4148A>T
c.1957A>T (p.Asn653Tyr)
c.4078A>T (p.Asn1360Tyr)
c.3349A>T (p.Asn1117Tyr)
c.2509A>T (p.Asn837Tyr)
16g.1511009T>CCA394222317IFT140c.4324A>G (p.Asn1442Asp)
c.1906A>G (p.Asn636Asp)
c.*2762A>G (n.*2762A>G)
n.4148A>G
c.1957A>G (p.Asn653Asp)
c.4078A>G (p.Asn1360Asp)
c.3349A>G (p.Asn1117Asp)
c.2509A>G (p.Asn837Asp)
16g.1511009T>GCA394222318IFT140c.4324A>C (p.Asn1442His)
c.1906A>C (p.Asn636His)
c.*2762A>C (n.*2762A>C)
n.4148A>C
c.1957A>C (p.Asn653His)
c.4078A>C (p.Asn1360His)
c.3349A>C (p.Asn1117His)
c.2509A>C (p.Asn837His)
16g.1511010G>ACA493031386IFT140c.4323C>T (p.His1441=)
c.1905C>T (p.His635=)
c.*2761C>T (n.*2761C>T)
n.4147C>T
c.1956C>T (p.His652=)
c.4077C>T (p.His1359=)
c.3348C>T (p.His1116=)
c.2508C>T (p.His836=)
16g.1511010G>CCA394222320IFT140c.4323C>G (p.His1441Gln)
c.1905C>G (p.His635Gln)
c.*2761C>G (n.*2761C>G)
n.4147C>G
c.1956C>G (p.His652Gln)
c.4077C>G (p.His1359Gln)
c.3348C>G (p.His1116Gln)
c.2508C>G (p.His836Gln)
 dbSNP gnomAD v4
16g.1511010G=CA2201718372IFT140c.4323C= (p.His1441=)
c.1905C= (p.His635=)
c.*2761C= (n.*2761C=)
n.4147C=
c.1956C= (p.His652=)
c.4077C= (p.His1359=)
c.3348C= (p.His1116=)
c.2508C= (p.His836=)
16g.1511010G>TCA394222319IFT140c.4323C>A (p.His1441Gln)
c.1905C>A (p.His635Gln)
c.*2761C>A (n.*2761C>A)
n.4147C>A
c.1956C>A (p.His652Gln)
c.4077C>A (p.His1359Gln)
c.3348C>A (p.His1116Gln)
c.2508C>A (p.His836Gln)
16g.1511010dupCA2573151741IFT140c.4323dup (p.Asn1442GlnfsTer19)
c.1905dup (p.Asn636GlnfsTer19)
c.*2761dup (n.*2761dup)
n.4147dup
c.1956dup (p.Asn653GlnfsTer19)
c.4077dup (p.Asn1360GlnfsTer19)
c.3348dup (p.Asn1117GlnfsTer19)
c.2508dup (p.Asn837GlnfsTer19)
 ClinVar dbSNP
16g.1511011T>ACA394222321IFT140c.4322A>T (p.His1441Leu)
c.1904A>T (p.His635Leu)
c.*2760A>T (n.*2760A>T)
n.4146A>T
c.1955A>T (p.His652Leu)
c.4076A>T (p.His1359Leu)
c.3347A>T (p.His1116Leu)
c.2507A>T (p.His836Leu)
16g.1511011T>CCA394222322IFT140c.4322A>G (p.His1441Arg)
c.1904A>G (p.His635Arg)
c.*2760A>G (n.*2760A>G)
n.4146A>G
c.1955A>G (p.His652Arg)
c.4076A>G (p.His1359Arg)
c.3347A>G (p.His1116Arg)
c.2507A>G (p.His836Arg)
16g.1511011T>GCA394222323IFT140c.4322A>C (p.His1441Pro)
c.1904A>C (p.His635Pro)
c.*2760A>C (n.*2760A>C)
n.4146A>C
c.1955A>C (p.His652Pro)
c.4076A>C (p.His1359Pro)
c.3347A>C (p.His1116Pro)
c.2507A>C (p.His836Pro)
16g.1511012G>ACA394222324IFT140c.4321C>T (p.His1441Tyr)
c.1903C>T (p.His635Tyr)
c.*2759C>T (n.*2759C>T)
n.4145C>T
c.1954C>T (p.His652Tyr)
c.4075C>T (p.His1359Tyr)
c.3346C>T (p.His1116Tyr)
c.2506C>T (p.His836Tyr)
 dbSNP gnomAD v2 gnomAD v4
16g.1511012G>CCA394222325IFT140c.4321C>G (p.His1441Asp)
c.1903C>G (p.His635Asp)
c.*2759C>G (n.*2759C>G)
n.4145C>G
c.1954C>G (p.His652Asp)
c.4075C>G (p.His1359Asp)
c.3346C>G (p.His1116Asp)
c.2506C>G (p.His836Asp)
16g.1511012G=CA2201718373IFT140c.4321C= (p.His1441=)
c.1903C= (p.His635=)
c.*2759C= (n.*2759C=)
n.4145C=
c.1954C= (p.His652=)
c.4075C= (p.His1359=)
c.3346C= (p.His1116=)
c.2506C= (p.His836=)
16g.1511012G>TCA394222326IFT140c.4321C>A (p.His1441Asn)
c.1903C>A (p.His635Asn)
c.*2759C>A (n.*2759C>A)
n.4145C>A
c.1954C>A (p.His652Asn)
c.4075C>A (p.His1359Asn)
c.3346C>A (p.His1116Asn)
c.2506C>A (p.His836Asn)
16g.1511013G>ACA493031388IFT140c.4320C>T (p.Arg1440=)
c.1902C>T (p.Arg634=)
c.*2758C>T (n.*2758C>T)
n.4144C>T
c.1953C>T (p.Arg651=)
c.4074C>T (p.Arg1358=)
c.3345C>T (p.Arg1115=)
c.2505C>T (p.Arg835=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.1511013G>CCA493031389IFT140c.4320C>G (p.Arg1440=)
c.1902C>G (p.Arg634=)
c.*2758C>G (n.*2758C>G)
n.4144C>G
c.1953C>G (p.Arg651=)
c.4074C>G (p.Arg1358=)
c.3345C>G (p.Arg1115=)
c.2505C>G (p.Arg835=)
16g.1511013G=CA2201718374IFT140c.4320C= (p.Arg1440=)
c.1902C= (p.Arg634=)
c.*2758C= (n.*2758C=)
n.4144C=
c.1953C= (p.Arg651=)
c.4074C= (p.Arg1358=)
c.3345C= (p.Arg1115=)
c.2505C= (p.Arg835=)
16g.1511013G>TCA493031390IFT140c.4320C>A (p.Arg1440=)
c.1902C>A (p.Arg634=)
c.*2758C>A (n.*2758C>A)
n.4144C>A
c.1953C>A (p.Arg651=)
c.4074C>A (p.Arg1358=)
c.3345C>A (p.Arg1115=)
c.2505C>A (p.Arg835=)
16g.1511014C>ACA394222328IFT140c.4319G>T (p.Arg1440Leu)
c.1901G>T (p.Arg634Leu)
c.*2757G>T (n.*2757G>T)
n.4143G>T
c.1952G>T (p.Arg651Leu)
c.4073G>T (p.Arg1358Leu)
c.3344G>T (p.Arg1115Leu)
c.2504G>T (p.Arg835Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.1511014C=CA2201718375IFT140c.4319G= (p.Arg1440=)
c.1901G= (p.Arg634=)
c.*2757G= (n.*2757G=)
n.4143G=
c.1952G= (p.Arg651=)
c.4073G= (p.Arg1358=)
c.3344G= (p.Arg1115=)
c.2504G= (p.Arg835=)
16g.1511014C>GCA394222327IFT140c.4319G>C (p.Arg1440Pro)
c.1901G>C (p.Arg634Pro)
c.*2757G>C (n.*2757G>C)
n.4143G>C
c.1952G>C (p.Arg651Pro)
c.4073G>C (p.Arg1358Pro)
c.3344G>C (p.Arg1115Pro)
c.2504G>C (p.Arg835Pro)
16g.1511014C>TCA7812784IFT140c.4319G>A (p.Arg1440His)
c.1901G>A (p.Arg634His)
c.*2757G>A (n.*2757G>A)
n.4143G>A
c.1952G>A (p.Arg651His)
c.4073G>A (p.Arg1358His)
c.3344G>A (p.Arg1115His)
c.2504G>A (p.Arg835His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511015G>ACA7812785IFT140c.4318C>T (p.Arg1440Cys)
c.1900C>T (p.Arg634Cys)
c.*2756C>T (n.*2756C>T)
n.4142C>T
c.1951C>T (p.Arg651Cys)
c.4072C>T (p.Arg1358Cys)
c.3343C>T (p.Arg1115Cys)
c.2503C>T (p.Arg835Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511015G>CCA394222329IFT140c.4318C>G (p.Arg1440Gly)
c.1900C>G (p.Arg634Gly)
c.*2756C>G (n.*2756C>G)
n.4142C>G
c.1951C>G (p.Arg651Gly)
c.4072C>G (p.Arg1358Gly)
c.3343C>G (p.Arg1115Gly)
c.2503C>G (p.Arg835Gly)
16g.1511015G=CA2201718376IFT140c.4318C= (p.Arg1440=)
c.1900C= (p.Arg634=)
c.*2756C= (n.*2756C=)
n.4142C=
c.1951C= (p.Arg651=)
c.4072C= (p.Arg1358=)
c.3343C= (p.Arg1115=)
c.2503C= (p.Arg835=)
16g.1511015G>TCA394222330IFT140c.4318C>A (p.Arg1440Ser)
c.1900C>A (p.Arg634Ser)
c.*2756C>A (n.*2756C>A)
n.4142C>A
c.1951C>A (p.Arg651Ser)
c.4072C>A (p.Arg1358Ser)
c.3343C>A (p.Arg1115Ser)
c.2503C>A (p.Arg835Ser)
16g.1511016G>ACA493031397IFT140c.4317C>T (p.Val1439=)
c.1899C>T (p.Val633=)
c.*2755C>T (n.*2755C>T)
n.4141C>T
c.1950C>T (p.Val650=)
c.4071C>T (p.Val1357=)
c.3342C>T (p.Val1114=)
c.2502C>T (p.Val834=)
16g.1511016G>CCA493031395IFT140c.4317C>G (p.Val1439=)
c.1899C>G (p.Val633=)
c.*2755C>G (n.*2755C>G)
n.4141C>G
c.1950C>G (p.Val650=)
c.4071C>G (p.Val1357=)
c.3342C>G (p.Val1114=)
c.2502C>G (p.Val834=)
16g.1511016G>TCA493031396IFT140c.4317C>A (p.Val1439=)
c.1899C>A (p.Val633=)
c.*2755C>A (n.*2755C>A)
n.4141C>A
c.1950C>A (p.Val650=)
c.4071C>A (p.Val1357=)
c.3342C>A (p.Val1114=)
c.2502C>A (p.Val834=)
16g.1511017A=CA2201718377IFT140c.4316T= (p.Val1439=)
c.1898T= (p.Val633=)
c.*2754T= (n.*2754T=)
n.4140T=
c.1949T= (p.Val650=)
c.4070T= (p.Val1357=)
c.3341T= (p.Val1114=)
c.2501T= (p.Val834=)
16g.1511017A>CCA394222331IFT140c.4316T>G (p.Val1439Gly)
c.1898T>G (p.Val633Gly)
c.*2754T>G (n.*2754T>G)
n.4140T>G
c.1949T>G (p.Val650Gly)
c.4070T>G (p.Val1357Gly)
c.3341T>G (p.Val1114Gly)
c.2501T>G (p.Val834Gly)
16g.1511017A>GCA7812786IFT140c.4316T>C (p.Val1439Ala)
c.1898T>C (p.Val633Ala)
c.*2754T>C (n.*2754T>C)
n.4140T>C
c.1949T>C (p.Val650Ala)
c.4070T>C (p.Val1357Ala)
c.3341T>C (p.Val1114Ala)
c.2501T>C (p.Val834Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1511017A>TCA394222332IFT140c.4316T>A (p.Val1439Asp)
c.1898T>A (p.Val633Asp)
c.*2754T>A (n.*2754T>A)
n.4140T>A
c.1949T>A (p.Val650Asp)
c.4070T>A (p.Val1357Asp)
c.3341T>A (p.Val1114Asp)
c.2501T>A (p.Val834Asp)
16g.1511018C>ACA394222334IFT140c.4315G>T (p.Val1439Phe)
c.1897G>T (p.Val633Phe)
c.*2753G>T (n.*2753G>T)
n.4139G>T
c.1948G>T (p.Val650Phe)
c.4069G>T (p.Val1357Phe)
c.3340G>T (p.Val1114Phe)
c.2500G>T (p.Val834Phe)
 gnomAD v4
16g.1511018C=CA2201718378IFT140c.4315G= (p.Val1439=)
c.1897G= (p.Val633=)
c.*2753G= (n.*2753G=)
n.4139G=
c.1948G= (p.Val650=)
c.4069G= (p.Val1357=)
c.3340G= (p.Val1114=)
c.2500G= (p.Val834=)
16g.1511018C>GCA394222333IFT140c.4315G>C (p.Val1439Leu)
c.1897G>C (p.Val633Leu)
c.*2753G>C (n.*2753G>C)
n.4139G>C
c.1948G>C (p.Val650Leu)
c.4069G>C (p.Val1357Leu)
c.3340G>C (p.Val1114Leu)
c.2500G>C (p.Val834Leu)
16g.1511018C>TCA7812787IFT140c.4315G>A (p.Val1439Ile)
c.1897G>A (p.Val633Ile)
c.*2753G>A (n.*2753G>A)
n.4139G>A
c.1948G>A (p.Val650Ile)
c.4069G>A (p.Val1357Ile)
c.3340G>A (p.Val1114Ile)
c.2500G>A (p.Val834Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1511019C>ACA394222335IFT140c.4314G>T (p.Gln1438His)
c.1896G>T (p.Gln632His)
c.*2752G>T (n.*2752G>T)
n.4138G>T
c.1947G>T (p.Gln649His)
c.4068G>T (p.Gln1356His)
c.3339G>T (p.Gln1113His)
c.2499G>T (p.Gln833His)
 gnomAD v4
16g.1511019C>GCA394222336IFT140c.4314G>C (p.Gln1438His)
c.1896G>C (p.Gln632His)
c.*2752G>C (n.*2752G>C)
n.4138G>C
c.1947G>C (p.Gln649His)
c.4068G>C (p.Gln1356His)
c.3339G>C (p.Gln1113His)
c.2499G>C (p.Gln833His)
 gnomAD v4
16g.1511019C>TCA493031402IFT140c.4314G>A (p.Gln1438=)
c.1896G>A (p.Gln632=)
c.*2752G>A (n.*2752G>A)
n.4138G>A
c.1947G>A (p.Gln649=)
c.4068G>A (p.Gln1356=)
c.3339G>A (p.Gln1113=)
c.2499G>A (p.Gln833=)
 gnomAD v4
16g.1511020T>ACA394222337IFT140c.4313A>T (p.Gln1438Leu)
c.1895A>T (p.Gln632Leu)
c.*2751A>T (n.*2751A>T)
n.4137A>T
c.1946A>T (p.Gln649Leu)
c.4067A>T (p.Gln1356Leu)
c.3338A>T (p.Gln1113Leu)
c.2498A>T (p.Gln833Leu)
16g.1511020T>CCA394222338IFT140c.4313A>G (p.Gln1438Arg)
c.1895A>G (p.Gln632Arg)
c.*2751A>G (n.*2751A>G)
n.4137A>G
c.1946A>G (p.Gln649Arg)
c.4067A>G (p.Gln1356Arg)
c.3338A>G (p.Gln1113Arg)
c.2498A>G (p.Gln833Arg)
16g.1511020T>GCA394222339IFT140c.4313A>C (p.Gln1438Pro)
c.1895A>C (p.Gln632Pro)
c.*2751A>C (n.*2751A>C)
n.4137A>C
c.1946A>C (p.Gln649Pro)
c.4067A>C (p.Gln1356Pro)
c.3338A>C (p.Gln1113Pro)
c.2498A>C (p.Gln833Pro)
 dbSNP
16g.1511021G>ACA394222340IFT140c.4312C>T (p.Gln1438Ter)
c.1894C>T (p.Gln632Ter)
c.*2750C>T (n.*2750C>T)
n.4136C>T
c.1945C>T (p.Gln649Ter)
c.4066C>T (p.Gln1356Ter)
c.3337C>T (p.Gln1113Ter)
c.2497C>T (p.Gln833Ter)
16g.1511021G>CCA394222341IFT140c.4312C>G (p.Gln1438Glu)
c.1894C>G (p.Gln632Glu)
c.*2750C>G (n.*2750C>G)
n.4136C>G
c.1945C>G (p.Gln649Glu)
c.4066C>G (p.Gln1356Glu)
c.3337C>G (p.Gln1113Glu)
c.2497C>G (p.Gln833Glu)
16g.1511021G>TCA394222342IFT140c.4312C>A (p.Gln1438Lys)
c.1894C>A (p.Gln632Lys)
c.*2750C>A (n.*2750C>A)
n.4136C>A
c.1945C>A (p.Gln649Lys)
c.4066C>A (p.Gln1356Lys)
c.3337C>A (p.Gln1113Lys)
c.2497C>A (p.Gln833Lys)
 gnomAD v4
16g.1511022C>ACA394222343IFT140c.4311G>T (p.Glu1437Asp)
c.1893G>T (p.Glu631Asp)
c.*2749G>T (n.*2749G>T)
n.4135G>T
c.1944G>T (p.Glu648Asp)
c.4065G>T (p.Glu1355Asp)
c.3336G>T (p.Glu1112Asp)
c.2496G>T (p.Glu832Asp)
16g.1511022C>GCA394222344IFT140c.4311G>C (p.Glu1437Asp)
c.1893G>C (p.Glu631Asp)
c.*2749G>C (n.*2749G>C)
n.4135G>C
c.1944G>C (p.Glu648Asp)
c.4065G>C (p.Glu1355Asp)
c.3336G>C (p.Glu1112Asp)
c.2496G>C (p.Glu832Asp)
16g.1511022C>TCA493031406IFT140c.4311G>A (p.Glu1437=)
c.1893G>A (p.Glu631=)
c.*2749G>A (n.*2749G>A)
n.4135G>A
c.1944G>A (p.Glu648=)
c.4065G>A (p.Glu1355=)
c.3336G>A (p.Glu1112=)
c.2496G>A (p.Glu832=)
16g.1511023T>ACA394222345IFT140c.4310A>T (p.Glu1437Val)
c.1892A>T (p.Glu631Val)
c.*2748A>T (n.*2748A>T)
n.4134A>T
c.1943A>T (p.Glu648Val)
c.4064A>T (p.Glu1355Val)
c.3335A>T (p.Glu1112Val)
c.2495A>T (p.Glu832Val)
16g.1511023T>CCA394222346IFT140c.4310A>G (p.Glu1437Gly)
c.1892A>G (p.Glu631Gly)
c.*2748A>G (n.*2748A>G)
n.4134A>G
c.1943A>G (p.Glu648Gly)
c.4064A>G (p.Glu1355Gly)
c.3335A>G (p.Glu1112Gly)
c.2495A>G (p.Glu832Gly)
16g.1511023T>GCA394222347IFT140c.4310A>C (p.Glu1437Ala)
c.1892A>C (p.Glu631Ala)
c.*2748A>C (n.*2748A>C)
n.4134A>C
c.1943A>C (p.Glu648Ala)
c.4064A>C (p.Glu1355Ala)
c.3335A>C (p.Glu1112Ala)
c.2495A>C (p.Glu832Ala)
16g.1511024C>ACA394222349IFT140c.4309G>T (p.Glu1437Ter)
c.1891G>T (p.Glu631Ter)
c.*2747G>T (n.*2747G>T)
n.4133G>T
c.1942G>T (p.Glu648Ter)
c.4063G>T (p.Glu1355Ter)
c.3334G>T (p.Glu1112Ter)
c.2494G>T (p.Glu832Ter)
16g.1511024C=CA2201718379IFT140c.4309G= (p.Glu1437=)
c.1891G= (p.Glu631=)
c.*2747G= (n.*2747G=)
n.4133G=
c.1942G= (p.Glu648=)
c.4063G= (p.Glu1355=)
c.3334G= (p.Glu1112=)
c.2494G= (p.Glu832=)
16g.1511024C>GCA394222348IFT140c.4309G>C (p.Glu1437Gln)
c.1891G>C (p.Glu631Gln)
c.*2747G>C (n.*2747G>C)
n.4133G>C
c.1942G>C (p.Glu648Gln)
c.4063G>C (p.Glu1355Gln)
c.3334G>C (p.Glu1112Gln)
c.2494G>C (p.Glu832Gln)
 dbSNP
16g.1511024C>TCA7812788IFT140c.4309G>A (p.Glu1437Lys)
c.1891G>A (p.Glu631Lys)
c.*2747G>A (n.*2747G>A)
n.4133G>A
c.1942G>A (p.Glu648Lys)
c.4063G>A (p.Glu1355Lys)
c.3334G>A (p.Glu1112Lys)
c.2494G>A (p.Glu832Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511024_1511025delinsCGCA2201718380IFT140c.4308_4309delinsCG (p.Pro1436=)
c.1890_1891delinsCG (p.Pro630=)
c.*2746_*2747delinsCG (n.*2746_*2747delinsCG)
n.4132_4133delinsCG
c.1941_1942delinsCG (p.Pro647=)
c.4062_4063delinsCG (p.Pro1354=)
c.3333_3334delinsCG (p.Pro1111=)
c.2493_2494delinsCG (p.Pro831=)
16g.1511025G>ACA7812789IFT140c.4308C>T (p.Pro1436=)
c.1890C>T (p.Pro630=)
c.*2746C>T (n.*2746C>T)
n.4132C>T
c.1941C>T (p.Pro647=)
c.4062C>T (p.Pro1354=)
c.3333C>T (p.Pro1111=)
c.2493C>T (p.Pro831=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511025G>CCA493031409IFT140c.4308C>G (p.Pro1436=)
c.1890C>G (p.Pro630=)
c.*2746C>G (n.*2746C>G)
n.4132C>G
c.1941C>G (p.Pro647=)
c.4062C>G (p.Pro1354=)
c.3333C>G (p.Pro1111=)
c.2493C>G (p.Pro831=)
 gnomAD v4
16g.1511025G=CA2201718381IFT140c.4308C= (p.Pro1436=)
c.1890C= (p.Pro630=)
c.*2746C= (n.*2746C=)
n.4132C=
c.1941C= (p.Pro647=)
c.4062C= (p.Pro1354=)
c.3333C= (p.Pro1111=)
c.2493C= (p.Pro831=)
16g.1511025G>TCA493031410IFT140c.4308C>A (p.Pro1436=)
c.1890C>A (p.Pro630=)
c.*2746C>A (n.*2746C>A)
n.4132C>A
c.1941C>A (p.Pro647=)
c.4062C>A (p.Pro1354=)
c.3333C>A (p.Pro1111=)
c.2493C>A (p.Pro831=)
 dbSNP gnomAD v2 gnomAD v4
16g.1511028delCA620700849IFT140c.4308del (p.Glu1437SerfsTer?)
c.1890del (p.Glu631SerfsTer?)
c.*2746del (n.*2746del)
n.4132del
c.1941del (p.Glu648SerfsTer?)
c.4062del (p.Glu1355SerfsTer?)
c.3333del (p.Glu1112SerfsTer?)
c.2493del (p.Glu832SerfsTer?)
 dbSNP gnomAD v2 gnomAD v4
16g.1511026G>ACA394222350IFT140c.4307C>T (p.Pro1436Leu)
c.1889C>T (p.Pro630Leu)
c.*2745C>T (n.*2745C>T)
n.4131C>T
c.1940C>T (p.Pro647Leu)
c.4061C>T (p.Pro1354Leu)
c.3332C>T (p.Pro1111Leu)
c.2492C>T (p.Pro831Leu)
16g.1511026G>CCA394222351IFT140c.4307C>G (p.Pro1436Arg)
c.1889C>G (p.Pro630Arg)
c.*2745C>G (n.*2745C>G)
n.4131C>G
c.1940C>G (p.Pro647Arg)
c.4061C>G (p.Pro1354Arg)
c.3332C>G (p.Pro1111Arg)
c.2492C>G (p.Pro831Arg)
16g.1511026G>TCA394222352IFT140c.4307C>A (p.Pro1436His)
c.1889C>A (p.Pro630His)
c.*2745C>A (n.*2745C>A)
n.4131C>A
c.1940C>A (p.Pro647His)
c.4061C>A (p.Pro1354His)
c.3332C>A (p.Pro1111His)
c.2492C>A (p.Pro831His)
16g.1511027G>ACA394222353IFT140c.4306C>T (p.Pro1436Ser)
c.1888C>T (p.Pro630Ser)
c.*2744C>T (n.*2744C>T)
n.4130C>T
c.1939C>T (p.Pro647Ser)
c.4060C>T (p.Pro1354Ser)
c.3331C>T (p.Pro1111Ser)
c.2491C>T (p.Pro831Ser)
16g.1511027G>CCA7812790IFT140c.4306C>G (p.Pro1436Ala)
c.1888C>G (p.Pro630Ala)
c.*2744C>G (n.*2744C>G)
n.4130C>G
c.1939C>G (p.Pro647Ala)
c.4060C>G (p.Pro1354Ala)
c.3331C>G (p.Pro1111Ala)
c.2491C>G (p.Pro831Ala)
 dbSNP ExAC gnomAD v2
16g.1511027G=CA2201718382IFT140c.4306C= (p.Pro1436=)
c.1888C= (p.Pro630=)
c.*2744C= (n.*2744C=)
n.4130C=
c.1939C= (p.Pro647=)
c.4060C= (p.Pro1354=)
c.3331C= (p.Pro1111=)
c.2491C= (p.Pro831=)
16g.1511027G>TCA394222354IFT140c.4306C>A (p.Pro1436Thr)
c.1888C>A (p.Pro630Thr)
c.*2744C>A (n.*2744C>A)
n.4130C>A
c.1939C>A (p.Pro647Thr)
c.4060C>A (p.Pro1354Thr)
c.3331C>A (p.Pro1111Thr)
c.2491C>A (p.Pro831Thr)
16g.1511028G>ACA493031413IFT140c.4305C>T (p.Val1435=)
c.1887C>T (p.Val629=)
c.*2743C>T (n.*2743C>T)
n.4129C>T
c.1938C>T (p.Val646=)
c.4059C>T (p.Val1353=)
c.3330C>T (p.Val1110=)
c.2490C>T (p.Val830=)
16g.1511028G>CCA493031414IFT140c.4305C>G (p.Val1435=)
c.1887C>G (p.Val629=)
c.*2743C>G (n.*2743C>G)
n.4129C>G
c.1938C>G (p.Val646=)
c.4059C>G (p.Val1353=)
c.3330C>G (p.Val1110=)
c.2490C>G (p.Val830=)
16g.1511028G>TCA493031416IFT140c.4305C>A (p.Val1435=)
c.1887C>A (p.Val629=)
c.*2743C>A (n.*2743C>A)
n.4129C>A
c.1938C>A (p.Val646=)
c.4059C>A (p.Val1353=)
c.3330C>A (p.Val1110=)
c.2490C>A (p.Val830=)
16g.1511029A>CCA394222355IFT140c.4304T>G (p.Val1435Gly)
c.1886T>G (p.Val629Gly)
c.*2742T>G (n.*2742T>G)
n.4128T>G
c.1937T>G (p.Val646Gly)
c.4058T>G (p.Val1353Gly)
c.3329T>G (p.Val1110Gly)
c.2489T>G (p.Val830Gly)
 ClinVar
16g.1511029A>GCA394222357IFT140c.4304T>C (p.Val1435Ala)
c.1886T>C (p.Val629Ala)
c.*2742T>C (n.*2742T>C)
n.4128T>C
c.1937T>C (p.Val646Ala)
c.4058T>C (p.Val1353Ala)
c.3329T>C (p.Val1110Ala)
c.2489T>C (p.Val830Ala)
16g.1511029A>TCA394222356IFT140c.4304T>A (p.Val1435Asp)
c.1886T>A (p.Val629Asp)
c.*2742T>A (n.*2742T>A)
n.4128T>A
c.1937T>A (p.Val646Asp)
c.4058T>A (p.Val1353Asp)
c.3329T>A (p.Val1110Asp)
c.2489T>A (p.Val830Asp)
16g.1511030C>ACA394222358IFT140c.4303G>T (p.Val1435Phe)
c.1885G>T (p.Val629Phe)
c.*2741G>T (n.*2741G>T)
n.4127G>T
c.1936G>T (p.Val646Phe)
c.4057G>T (p.Val1353Phe)
c.3328G>T (p.Val1110Phe)
c.2488G>T (p.Val830Phe)
16g.1511030C=CA2201718383IFT140c.4303G= (p.Val1435=)
c.1885G= (p.Val629=)
c.*2741G= (n.*2741G=)
n.4127G=
c.1936G= (p.Val646=)
c.4057G= (p.Val1353=)
c.3328G= (p.Val1110=)
c.2488G= (p.Val830=)
16g.1511030C>GCA394222359IFT140c.4303G>C (p.Val1435Leu)
c.1885G>C (p.Val629Leu)
c.*2741G>C (n.*2741G>C)
n.4127G>C
c.1936G>C (p.Val646Leu)
c.4057G>C (p.Val1353Leu)
c.3328G>C (p.Val1110Leu)
c.2488G>C (p.Val830Leu)
16g.1511030C>TCA7812791IFT140c.4303G>A (p.Val1435Ile)
c.1885G>A (p.Val629Ile)
c.*2741G>A (n.*2741G>A)
n.4127G>A
c.1936G>A (p.Val646Ile)
c.4057G>A (p.Val1353Ile)
c.3328G>A (p.Val1110Ile)
c.2488G>A (p.Val830Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511031G>ACA7812792IFT140c.4302C>T (p.Thr1434=)
c.1884C>T (p.Thr628=)
c.*2740C>T (n.*2740C>T)
n.4126C>T
c.1935C>T (p.Thr645=)
c.4056C>T (p.Thr1352=)
c.3327C>T (p.Thr1109=)
c.2487C>T (p.Thr829=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511031G>CCA493031419IFT140c.4302C>G (p.Thr1434=)
c.1884C>G (p.Thr628=)
c.*2740C>G (n.*2740C>G)
n.4126C>G
c.1935C>G (p.Thr645=)
c.4056C>G (p.Thr1352=)
c.3327C>G (p.Thr1109=)
c.2487C>G (p.Thr829=)
16g.1511031G=CA2201718384IFT140c.4302C= (p.Thr1434=)
c.1884C= (p.Thr628=)
c.*2740C= (n.*2740C=)
n.4126C=
c.1935C= (p.Thr645=)
c.4056C= (p.Thr1352=)
c.3327C= (p.Thr1109=)
c.2487C= (p.Thr829=)
16g.1511031G>TCA493031420IFT140c.4302C>A (p.Thr1434=)
c.1884C>A (p.Thr628=)
c.*2740C>A (n.*2740C>A)
n.4126C>A
c.1935C>A (p.Thr645=)
c.4056C>A (p.Thr1352=)
c.3327C>A (p.Thr1109=)
c.2487C>A (p.Thr829=)
 gnomAD v4
16g.1511032G>ACA394222362IFT140c.4301C>T (p.Thr1434Ile)
c.1883C>T (p.Thr628Ile)
c.*2739C>T (n.*2739C>T)
n.4125C>T
c.1934C>T (p.Thr645Ile)
c.4055C>T (p.Thr1352Ile)
c.3326C>T (p.Thr1109Ile)
c.2486C>T (p.Thr829Ile)
 gnomAD v4
16g.1511032G>CCA394222360IFT140c.4301C>G (p.Thr1434Ser)
c.1883C>G (p.Thr628Ser)
c.*2739C>G (n.*2739C>G)
n.4125C>G
c.1934C>G (p.Thr645Ser)
c.4055C>G (p.Thr1352Ser)
c.3326C>G (p.Thr1109Ser)
c.2486C>G (p.Thr829Ser)
16g.1511032G=CA2201718385IFT140c.4301C= (p.Thr1434=)
c.1883C= (p.Thr628=)
c.*2739C= (n.*2739C=)
n.4125C=
c.1934C= (p.Thr645=)
c.4055C= (p.Thr1352=)
c.3326C= (p.Thr1109=)
c.2486C= (p.Thr829=)
16g.1511032G>TCA394222361IFT140c.4301C>A (p.Thr1434Asn)
c.1883C>A (p.Thr628Asn)
c.*2739C>A (n.*2739C>A)
n.4125C>A
c.1934C>A (p.Thr645Asn)
c.4055C>A (p.Thr1352Asn)
c.3326C>A (p.Thr1109Asn)
c.2486C>A (p.Thr829Asn)
 dbSNP
16g.1511033T>ACA394222363IFT140c.4300A>T (p.Thr1434Ser)
c.1882A>T (p.Thr628Ser)
c.*2738A>T (n.*2738A>T)
n.4124A>T
c.1933A>T (p.Thr645Ser)
c.4054A>T (p.Thr1352Ser)
c.3325A>T (p.Thr1109Ser)
c.2485A>T (p.Thr829Ser)
16g.1511033T>CCA7812793IFT140c.4300A>G (p.Thr1434Ala)
c.1882A>G (p.Thr628Ala)
c.*2738A>G (n.*2738A>G)
n.4124A>G
c.1933A>G (p.Thr645Ala)
c.4054A>G (p.Thr1352Ala)
c.3325A>G (p.Thr1109Ala)
c.2485A>G (p.Thr829Ala)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
16g.1511033T>GCA394222364IFT140c.4300A>C (p.Thr1434Pro)
c.1882A>C (p.Thr628Pro)
c.*2738A>C (n.*2738A>C)
n.4124A>C
c.1933A>C (p.Thr645Pro)
c.4054A>C (p.Thr1352Pro)
c.3325A>C (p.Thr1109Pro)
c.2485A>C (p.Thr829Pro)
16g.1511033T=CA2201718386IFT140c.4300A= (p.Thr1434=)
c.1882A= (p.Thr628=)
c.*2738A= (n.*2738A=)
n.4124A=
c.1933A= (p.Thr645=)
c.4054A= (p.Thr1352=)
c.3325A= (p.Thr1109=)
c.2485A= (p.Thr829=)
16g.1511034G>ACA493031422IFT140c.4299C>T (p.Arg1433=)
c.1881C>T (p.Arg627=)
c.*2737C>T (n.*2737C>T)
n.4123C>T
c.1932C>T (p.Arg644=)
c.4053C>T (p.Arg1351=)
c.3324C>T (p.Arg1108=)
c.2484C>T (p.Arg828=)
 gnomAD v4
16g.1511034G>CCA493031423IFT140c.4299C>G (p.Arg1433=)
c.1881C>G (p.Arg627=)
c.*2737C>G (n.*2737C>G)
n.4123C>G
c.1932C>G (p.Arg644=)
c.4053C>G (p.Arg1351=)
c.3324C>G (p.Arg1108=)
c.2484C>G (p.Arg828=)
 ClinVar gnomAD v4
16g.1511034G>TCA493031424IFT140c.4299C>A (p.Arg1433=)
c.1881C>A (p.Arg627=)
c.*2737C>A (n.*2737C>A)
n.4123C>A
c.1932C>A (p.Arg644=)
c.4053C>A (p.Arg1351=)
c.3324C>A (p.Arg1108=)
c.2484C>A (p.Arg828=)
16g.1511035C>ACA394222365IFT140c.4298G>T (p.Arg1433Leu)
c.1880G>T (p.Arg627Leu)
c.*2736G>T (n.*2736G>T)
n.4122G>T
c.1931G>T (p.Arg644Leu)
c.4052G>T (p.Arg1351Leu)
c.3323G>T (p.Arg1108Leu)
c.2483G>T (p.Arg828Leu)
16g.1511035C=CA2201718387IFT140c.4298G= (p.Arg1433=)
c.1880G= (p.Arg627=)
c.*2736G= (n.*2736G=)
n.4122G=
c.1931G= (p.Arg644=)
c.4052G= (p.Arg1351=)
c.3323G= (p.Arg1108=)
c.2483G= (p.Arg828=)
16g.1511035C>GCA394222366IFT140c.4298G>C (p.Arg1433Pro)
c.1880G>C (p.Arg627Pro)
c.*2736G>C (n.*2736G>C)
n.4122G>C
c.1931G>C (p.Arg644Pro)
c.4052G>C (p.Arg1351Pro)
c.3323G>C (p.Arg1108Pro)
c.2483G>C (p.Arg828Pro)
16g.1511035C>TCA7812794IFT140c.4298G>A (p.Arg1433His)
c.1880G>A (p.Arg627His)
c.*2736G>A (n.*2736G>A)
n.4122G>A
c.1931G>A (p.Arg644His)
c.4052G>A (p.Arg1351His)
c.3323G>A (p.Arg1108His)
c.2483G>A (p.Arg828His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.1511036G>ACA7812795IFT140c.4297C>T (p.Arg1433Cys)
c.1879C>T (p.Arg627Cys)
c.*2735C>T (n.*2735C>T)
n.4121C>T
c.1930C>T (p.Arg644Cys)
c.4051C>T (p.Arg1351Cys)
c.3322C>T (p.Arg1108Cys)
c.2482C>T (p.Arg828Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511036G>CCA394222367IFT140c.4297C>G (p.Arg1433Gly)
c.1879C>G (p.Arg627Gly)
c.*2735C>G (n.*2735C>G)
n.4121C>G
c.1930C>G (p.Arg644Gly)
c.4051C>G (p.Arg1351Gly)
c.3322C>G (p.Arg1108Gly)
c.2482C>G (p.Arg828Gly)
16g.1511036G=CA2201718388IFT140c.4297C= (p.Arg1433=)
c.1879C= (p.Arg627=)
c.*2735C= (n.*2735C=)
n.4121C=
c.1930C= (p.Arg644=)
c.4051C= (p.Arg1351=)
c.3322C= (p.Arg1108=)
c.2482C= (p.Arg828=)
16g.1511036G>TCA394222368IFT140c.4297C>A (p.Arg1433Ser)
c.1879C>A (p.Arg627Ser)
c.*2735C>A (n.*2735C>A)
n.4121C>A
c.1930C>A (p.Arg644Ser)
c.4051C>A (p.Arg1351Ser)
c.3322C>A (p.Arg1108Ser)
c.2482C>A (p.Arg828Ser)
16g.1511037T>ACA493031430IFT140c.4296A>T (p.Pro1432=)
c.1878A>T (p.Pro626=)
c.*2734A>T (n.*2734A>T)
n.4120A>T
c.1929A>T (p.Pro643=)
c.4050A>T (p.Pro1350=)
c.3321A>T (p.Pro1107=)
c.2481A>T (p.Pro827=)
16g.1511037T>CCA493031431IFT140c.4296A>G (p.Pro1432=)
c.1878A>G (p.Pro626=)
c.*2734A>G (n.*2734A>G)
n.4120A>G
c.1929A>G (p.Pro643=)
c.4050A>G (p.Pro1350=)
c.3321A>G (p.Pro1107=)
c.2481A>G (p.Pro827=)
16g.1511037T>GCA493031432IFT140c.4296A>C (p.Pro1432=)
c.1878A>C (p.Pro626=)
c.*2734A>C (n.*2734A>C)
n.4120A>C
c.1929A>C (p.Pro643=)
c.4050A>C (p.Pro1350=)
c.3321A>C (p.Pro1107=)
c.2481A>C (p.Pro827=)
16g.1511038G>ACA394222369IFT140c.4295C>T (p.Pro1432Leu)
c.1877C>T (p.Pro626Leu)
c.*2733C>T (n.*2733C>T)
n.4119C>T
c.1928C>T (p.Pro643Leu)
c.4049C>T (p.Pro1350Leu)
c.3320C>T (p.Pro1107Leu)
c.2480C>T (p.Pro827Leu)
 gnomAD v4
16g.1511038G>CCA394222370IFT140c.4295C>G (p.Pro1432Arg)
c.1877C>G (p.Pro626Arg)
c.*2733C>G (n.*2733C>G)
n.4119C>G
c.1928C>G (p.Pro643Arg)
c.4049C>G (p.Pro1350Arg)
c.3320C>G (p.Pro1107Arg)
c.2480C>G (p.Pro827Arg)
16g.1511038G>TCA394222371IFT140c.4295C>A (p.Pro1432Gln)
c.1877C>A (p.Pro626Gln)
c.*2733C>A (n.*2733C>A)
n.4119C>A
c.1928C>A (p.Pro643Gln)
c.4049C>A (p.Pro1350Gln)
c.3320C>A (p.Pro1107Gln)
c.2480C>A (p.Pro827Gln)
16g.1511039G>ACA394222372IFT140c.4294C>T (p.Pro1432Ser)
c.1876C>T (p.Pro626Ser)
c.*2732C>T (n.*2732C>T)
n.4118C>T
c.1927C>T (p.Pro643Ser)
c.4048C>T (p.Pro1350Ser)
c.3319C>T (p.Pro1107Ser)
c.2479C>T (p.Pro827Ser)
 gnomAD v4
16g.1511039G>CCA394222374IFT140c.4294C>G (p.Pro1432Ala)
c.1876C>G (p.Pro626Ala)
c.*2732C>G (n.*2732C>G)
n.4118C>G
c.1927C>G (p.Pro643Ala)
c.4048C>G (p.Pro1350Ala)
c.3319C>G (p.Pro1107Ala)
c.2479C>G (p.Pro827Ala)
16g.1511039G>TCA394222373IFT140c.4294C>A (p.Pro1432Thr)
c.1876C>A (p.Pro626Thr)
c.*2732C>A (n.*2732C>A)
n.4118C>A
c.1927C>A (p.Pro643Thr)
c.4048C>A (p.Pro1350Thr)
c.3319C>A (p.Pro1107Thr)
c.2479C>A (p.Pro827Thr)
16g.1511040C>ACA493031436IFT140c.4293G>T (p.Leu1431=)
c.1875G>T (p.Leu625=)
c.*2731G>T (n.*2731G>T)
n.4117G>T
c.1926G>T (p.Leu642=)
c.4047G>T (p.Leu1349=)
c.3318G>T (p.Leu1106=)
c.2478G>T (p.Leu826=)
 gnomAD v4
16g.1511040C>GCA493031437IFT140c.4293G>C (p.Leu1431=)
c.1875G>C (p.Leu625=)
c.*2731G>C (n.*2731G>C)
n.4117G>C
c.1926G>C (p.Leu642=)
c.4047G>C (p.Leu1349=)
c.3318G>C (p.Leu1106=)
c.2478G>C (p.Leu826=)
 gnomAD v4
16g.1511040C>TCA493031438IFT140c.4293G>A (p.Leu1431=)
c.1875G>A (p.Leu625=)
c.*2731G>A (n.*2731G>A)
n.4117G>A
c.1926G>A (p.Leu642=)
c.4047G>A (p.Leu1349=)
c.3318G>A (p.Leu1106=)
c.2478G>A (p.Leu826=)
16g.1511041A=CA2201718389IFT140c.4292T= (p.Leu1431=)
c.1874T= (p.Leu625=)
c.*2730T= (n.*2730T=)
n.4116T=
c.1925T= (p.Leu642=)
c.4046T= (p.Leu1349=)
c.3317T= (p.Leu1106=)
c.2477T= (p.Leu826=)
16g.1511041A>CCA394222375IFT140c.4292T>G (p.Leu1431Arg)
c.1874T>G (p.Leu625Arg)
c.*2730T>G (n.*2730T>G)
n.4116T>G
c.1925T>G (p.Leu642Arg)
c.4046T>G (p.Leu1349Arg)
c.3317T>G (p.Leu1106Arg)
c.2477T>G (p.Leu826Arg)
 dbSNP gnomAD v4
16g.1511041A>GCA394222377IFT140c.4292T>C (p.Leu1431Pro)
c.1874T>C (p.Leu625Pro)
c.*2730T>C (n.*2730T>C)
n.4116T>C
c.1925T>C (p.Leu642Pro)
c.4046T>C (p.Leu1349Pro)
c.3317T>C (p.Leu1106Pro)
c.2477T>C (p.Leu826Pro)
16g.1511041A>TCA394222376IFT140c.4292T>A (p.Leu1431Gln)
c.1874T>A (p.Leu625Gln)
c.*2730T>A (n.*2730T>A)
n.4116T>A
c.1925T>A (p.Leu642Gln)
c.4046T>A (p.Leu1349Gln)
c.3317T>A (p.Leu1106Gln)
c.2477T>A (p.Leu826Gln)
16g.1511042G>ACA493031442IFT140c.4291C>T (p.Leu1431=)
c.1873C>T (p.Leu625=)
c.*2729C>T (n.*2729C>T)
n.4115C>T
c.1924C>T (p.Leu642=)
c.4045C>T (p.Leu1349=)
c.3316C>T (p.Leu1106=)
c.2476C>T (p.Leu826=)
 dbSNP gnomAD v4
16g.1511042G>CCA394222378IFT140c.4291C>G (p.Leu1431Val)
c.1873C>G (p.Leu625Val)
c.*2729C>G (n.*2729C>G)
n.4115C>G
c.1924C>G (p.Leu642Val)
c.4045C>G (p.Leu1349Val)
c.3316C>G (p.Leu1106Val)
c.2476C>G (p.Leu826Val)
16g.1511042G=CA2201718390IFT140c.4291C= (p.Leu1431=)
c.1873C= (p.Leu625=)
c.*2729C= (n.*2729C=)
n.4115C=
c.1924C= (p.Leu642=)
c.4045C= (p.Leu1349=)
c.3316C= (p.Leu1106=)
c.2476C= (p.Leu826=)
16g.1511042G>TCA394222379IFT140c.4291C>A (p.Leu1431Met)
c.1873C>A (p.Leu625Met)
c.*2729C>A (n.*2729C>A)
n.4115C>A
c.1924C>A (p.Leu642Met)
c.4045C>A (p.Leu1349Met)
c.3316C>A (p.Leu1106Met)
c.2476C>A (p.Leu826Met)
 COSMIC
16g.1511043T>ACA493031448IFT140c.4290A>T (p.Pro1430=)
c.1872A>T (p.Pro624=)
c.*2728A>T (n.*2728A>T)
n.4114A>T
c.1923A>T (p.Pro641=)
c.4044A>T (p.Pro1348=)
c.3315A>T (p.Pro1105=)
c.2475A>T (p.Pro825=)
16g.1511043T>CCA493031447IFT140c.4290A>G (p.Pro1430=)
c.1872A>G (p.Pro624=)
c.*2728A>G (n.*2728A>G)
n.4114A>G
c.1923A>G (p.Pro641=)
c.4044A>G (p.Pro1348=)
c.3315A>G (p.Pro1105=)
c.2475A>G (p.Pro825=)
16g.1511043T>GCA493031446IFT140c.4290A>C (p.Pro1430=)
c.1872A>C (p.Pro624=)
c.*2728A>C (n.*2728A>C)
n.4114A>C
c.1923A>C (p.Pro641=)
c.4044A>C (p.Pro1348=)
c.3315A>C (p.Pro1105=)
c.2475A>C (p.Pro825=)
16g.1511043_1511044insCCA645593040IFT140c.4289_4290insG (p.Leu1431ThrfsTer30)
c.1871_1872insG (p.Leu625ThrfsTer30)
c.*2727_*2728insG (n.*2727_*2728insG)
n.4113_4114insG
c.1922_1923insG (p.Leu642ThrfsTer30)
c.4043_4044insG (p.Leu1349ThrfsTer30)
c.3314_3315insG (p.Leu1106ThrfsTer30)
c.2474_2475insG (p.Leu826ThrfsTer30)
 COSMIC
16g.1511044G>ACA394222380IFT140c.4289C>T (p.Pro1430Leu)
c.1871C>T (p.Pro624Leu)
c.*2727C>T (n.*2727C>T)
n.4113C>T
c.1922C>T (p.Pro641Leu)
c.4043C>T (p.Pro1348Leu)
c.3314C>T (p.Pro1105Leu)
c.2474C>T (p.Pro825Leu)
16g.1511044G>CCA394222381IFT140c.4289C>G (p.Pro1430Arg)
c.1871C>G (p.Pro624Arg)
c.*2727C>G (n.*2727C>G)
n.4113C>G
c.1922C>G (p.Pro641Arg)
c.4043C>G (p.Pro1348Arg)
c.3314C>G (p.Pro1105Arg)
c.2474C>G (p.Pro825Arg)
16g.1511044G>TCA394222382IFT140c.4289C>A (p.Pro1430Gln)
c.1871C>A (p.Pro624Gln)
c.*2727C>A (n.*2727C>A)
n.4113C>A
c.1922C>A (p.Pro641Gln)
c.4043C>A (p.Pro1348Gln)
c.3314C>A (p.Pro1105Gln)
c.2474C>A (p.Pro825Gln)
16g.1511046dupCA493031449IFT140c.4289dup (p.Leu1431ThrfsTer30)
c.1871dup (p.Leu625ThrfsTer30)
c.*2727dup (n.*2727dup)
n.4113dup
c.1922dup (p.Leu642ThrfsTer30)
c.4043dup (p.Leu1349ThrfsTer30)
c.3314dup (p.Leu1106ThrfsTer30)
c.2474dup (p.Leu826ThrfsTer30)
16g.1511045G>ACA394222383IFT140c.4288C>T (p.Pro1430Ser)
c.1870C>T (p.Pro624Ser)
c.*2726C>T (n.*2726C>T)
n.4112C>T
c.1921C>T (p.Pro641Ser)
c.4042C>T (p.Pro1348Ser)
c.3313C>T (p.Pro1105Ser)
c.2473C>T (p.Pro825Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.1511045G>CCA394222384IFT140c.4288C>G (p.Pro1430Ala)
c.1870C>G (p.Pro624Ala)
c.*2726C>G (n.*2726C>G)
n.4112C>G
c.1921C>G (p.Pro641Ala)
c.4042C>G (p.Pro1348Ala)
c.3313C>G (p.Pro1105Ala)
c.2473C>G (p.Pro825Ala)
16g.1511045G=CA2201718391IFT140c.4288C= (p.Pro1430=)
c.1870C= (p.Pro624=)
c.*2726C= (n.*2726C=)
n.4112C=
c.1921C= (p.Pro641=)
c.4042C= (p.Pro1348=)
c.3313C= (p.Pro1105=)
c.2473C= (p.Pro825=)
16g.1511045G>TCA394222385IFT140c.4288C>A (p.Pro1430Thr)
c.1870C>A (p.Pro624Thr)
c.*2726C>A (n.*2726C>A)
n.4112C>A
c.1921C>A (p.Pro641Thr)
c.4042C>A (p.Pro1348Thr)
c.3313C>A (p.Pro1105Thr)
c.2473C>A (p.Pro825Thr)
16g.1511046G>ACA493031454IFT140c.4287C>T (p.Leu1429=)
c.1869C>T (p.Leu623=)
c.*2725C>T (n.*2725C>T)
n.4111C>T
c.1920C>T (p.Leu640=)
c.4041C>T (p.Leu1347=)
c.3312C>T (p.Leu1104=)
c.2472C>T (p.Leu824=)
16g.1511046G>CCA493031455IFT140c.4287C>G (p.Leu1429=)
c.1869C>G (p.Leu623=)
c.*2725C>G (n.*2725C>G)
n.4111C>G
c.1920C>G (p.Leu640=)
c.4041C>G (p.Leu1347=)
c.3312C>G (p.Leu1104=)
c.2472C>G (p.Leu824=)
16g.1511046G>TCA493031456IFT140c.4287C>A (p.Leu1429=)
c.1869C>A (p.Leu623=)
c.*2725C>A (n.*2725C>A)
n.4111C>A
c.1920C>A (p.Leu640=)
c.4041C>A (p.Leu1347=)
c.3312C>A (p.Leu1104=)
c.2472C>A (p.Leu824=)
16g.1511047A=CA2201718392IFT140c.4286T= (p.Leu1429=)
c.1868T= (p.Leu623=)
c.*2724T= (n.*2724T=)
n.4110T=
c.1919T= (p.Leu640=)
c.4040T= (p.Leu1347=)
c.3311T= (p.Leu1104=)
c.2471T= (p.Leu824=)
16g.1511047A>CCA394222386IFT140c.4286T>G (p.Leu1429Arg)
c.1868T>G (p.Leu623Arg)
c.*2724T>G (n.*2724T>G)
n.4110T>G
c.1919T>G (p.Leu640Arg)
c.4040T>G (p.Leu1347Arg)
c.3311T>G (p.Leu1104Arg)
c.2471T>G (p.Leu824Arg)
16g.1511047A>GCA7812796IFT140c.4286T>C (p.Leu1429Pro)
c.1868T>C (p.Leu623Pro)
c.*2724T>C (n.*2724T>C)
n.4110T>C
c.1919T>C (p.Leu640Pro)
c.4040T>C (p.Leu1347Pro)
c.3311T>C (p.Leu1104Pro)
c.2471T>C (p.Leu824Pro)
 dbSNP ExAC gnomAD v4
16g.1511047A>TCA394222387IFT140c.4286T>A (p.Leu1429His)
c.1868T>A (p.Leu623His)
c.*2724T>A (n.*2724T>A)
n.4110T>A
c.1919T>A (p.Leu640His)
c.4040T>A (p.Leu1347His)
c.3311T>A (p.Leu1104His)
c.2471T>A (p.Leu824His)
16g.1511048G>ACA394222390IFT140c.4285C>T (p.Leu1429Phe)
c.1867C>T (p.Leu623Phe)
c.*2723C>T (n.*2723C>T)
n.4109C>T
c.1918C>T (p.Leu640Phe)
c.4039C>T (p.Leu1347Phe)
c.3310C>T (p.Leu1104Phe)
c.2470C>T (p.Leu824Phe)
16g.1511048G>CCA394222389IFT140c.4285C>G (p.Leu1429Val)
c.1867C>G (p.Leu623Val)
c.*2723C>G (n.*2723C>G)
n.4109C>G
c.1918C>G (p.Leu640Val)
c.4039C>G (p.Leu1347Val)
c.3310C>G (p.Leu1104Val)
c.2470C>G (p.Leu824Val)
16g.1511048G>TCA394222388IFT140c.4285C>A (p.Leu1429Ile)
c.1867C>A (p.Leu623Ile)
c.*2723C>A (n.*2723C>A)
n.4109C>A
c.1918C>A (p.Leu640Ile)
c.4039C>A (p.Leu1347Ile)
c.3310C>A (p.Leu1104Ile)
c.2470C>A (p.Leu824Ile)
16g.1511049A>CCA493031462IFT140c.4284T>G (p.Gly1428=)
c.1866T>G (p.Gly622=)
c.*2722T>G (n.*2722T>G)
n.4108T>G
c.1917T>G (p.Gly639=)
c.4038T>G (p.Gly1346=)
c.3309T>G (p.Gly1103=)
c.2469T>G (p.Gly823=)
16g.1511049A>GCA493031463IFT140c.4284T>C (p.Gly1428=)
c.1866T>C (p.Gly622=)
c.*2722T>C (n.*2722T>C)
n.4108T>C
c.1917T>C (p.Gly639=)
c.4038T>C (p.Gly1346=)
c.3309T>C (p.Gly1103=)
c.2469T>C (p.Gly823=)
16g.1511049A>TCA493031464IFT140c.4284T>A (p.Gly1428=)
c.1866T>A (p.Gly622=)
c.*2722T>A (n.*2722T>A)
n.4108T>A
c.1917T>A (p.Gly639=)
c.4038T>A (p.Gly1346=)
c.3309T>A (p.Gly1103=)
c.2469T>A (p.Gly823=)
16g.1511050C>ACA394222391IFT140c.4283G>T (p.Gly1428Val)
c.1865G>T (p.Gly622Val)
c.*2721G>T (n.*2721G>T)
n.4107G>T
c.1916G>T (p.Gly639Val)
c.4037G>T (p.Gly1346Val)
c.3308G>T (p.Gly1103Val)
c.2468G>T (p.Gly823Val)
 dbSNP gnomAD v2 gnomAD v4
16g.1511050C=CA2201718393IFT140c.4283G= (p.Gly1428=)
c.1865G= (p.Gly622=)
c.*2721G= (n.*2721G=)
n.4107G=
c.1916G= (p.Gly639=)
c.4037G= (p.Gly1346=)
c.3308G= (p.Gly1103=)
c.2468G= (p.Gly823=)
16g.1511050C>GCA394222392IFT140c.4283G>C (p.Gly1428Ala)
c.1865G>C (p.Gly622Ala)
c.*2721G>C (n.*2721G>C)
n.4107G>C
c.1916G>C (p.Gly639Ala)
c.4037G>C (p.Gly1346Ala)
c.3308G>C (p.Gly1103Ala)
c.2468G>C (p.Gly823Ala)
 gnomAD v4
16g.1511050C>TCA394222393IFT140c.4283G>A (p.Gly1428Asp)
c.1865G>A (p.Gly622Asp)
c.*2721G>A (n.*2721G>A)
n.4107G>A
c.1916G>A (p.Gly639Asp)
c.4037G>A (p.Gly1346Asp)
c.3308G>A (p.Gly1103Asp)
c.2468G>A (p.Gly823Asp)
16g.1511052delCA2575869159IFT140c.4283del (p.Gly1428ValfsTer?)
c.1865del (p.Gly622ValfsTer?)
c.*2721del (n.*2721del)
n.4107del
c.1916del (p.Gly639ValfsTer?)
c.4037del (p.Gly1346ValfsTer?)
c.3308del (p.Gly1103ValfsTer?)
c.2468del (p.Gly823ValfsTer?)
16g.1511051C>ACA394222394IFT140c.4282G>T (p.Gly1428Cys)
c.1864G>T (p.Gly622Cys)
c.*2720G>T (n.*2720G>T)
n.4106G>T
c.1915G>T (p.Gly639Cys)
c.4036G>T (p.Gly1346Cys)
c.3307G>T (p.Gly1103Cys)
c.2467G>T (p.Gly823Cys)
16g.1511051C>GCA394222395IFT140c.4282G>C (p.Gly1428Arg)
c.1864G>C (p.Gly622Arg)
c.*2720G>C (n.*2720G>C)
n.4106G>C
c.1915G>C (p.Gly639Arg)
c.4036G>C (p.Gly1346Arg)
c.3307G>C (p.Gly1103Arg)
c.2467G>C (p.Gly823Arg)
16g.1511051C>TCA394222396IFT140c.4282G>A (p.Gly1428Ser)
c.1864G>A (p.Gly622Ser)
c.*2720G>A (n.*2720G>A)
n.4106G>A
c.1915G>A (p.Gly639Ser)
c.4036G>A (p.Gly1346Ser)
c.3307G>A (p.Gly1103Ser)
c.2467G>A (p.Gly823Ser)
16g.1511052C>ACA7812797IFT140c.4281G>T (p.Leu1427=)
c.1863G>T (p.Leu621=)
c.*2719G>T (n.*2719G>T)
n.4105G>T
c.1914G>T (p.Leu638=)
c.4035G>T (p.Leu1345=)
c.3306G>T (p.Leu1102=)
c.2466G>T (p.Leu822=)
 dbSNP ExAC gnomAD v2
16g.1511052C=CA2201718394IFT140c.4281G= (p.Leu1427=)
c.1863G= (p.Leu621=)
c.*2719G= (n.*2719G=)
n.4105G=
c.1914G= (p.Leu638=)
c.4035G= (p.Leu1345=)
c.3306G= (p.Leu1102=)
c.2466G= (p.Leu822=)
16g.1511052C>GCA493031469IFT140c.4281G>C (p.Leu1427=)
c.1863G>C (p.Leu621=)
c.*2719G>C (n.*2719G>C)
n.4105G>C
c.1914G>C (p.Leu638=)
c.4035G>C (p.Leu1345=)
c.3306G>C (p.Leu1102=)
c.2466G>C (p.Leu822=)
16g.1511052C>TCA493031470IFT140c.4281G>A (p.Leu1427=)
c.1863G>A (p.Leu621=)
c.*2719G>A (n.*2719G>A)
n.4105G>A
c.1914G>A (p.Leu638=)
c.4035G>A (p.Leu1345=)
c.3306G>A (p.Leu1102=)
c.2466G>A (p.Leu822=)
 dbSNP gnomAD v2 gnomAD v4
16g.1511053A=CA2201718395IFT140c.4280T= (p.Leu1427=)
c.1862T= (p.Leu621=)
c.*2718T= (n.*2718T=)
n.4104T=
c.1913T= (p.Leu638=)
c.4034T= (p.Leu1345=)
c.3305T= (p.Leu1102=)
c.2465T= (p.Leu822=)
16g.1511053A>CCA394222397IFT140c.4280T>G (p.Leu1427Arg)
c.1862T>G (p.Leu621Arg)
c.*2718T>G (n.*2718T>G)
n.4104T>G
c.1913T>G (p.Leu638Arg)
c.4034T>G (p.Leu1345Arg)
c.3305T>G (p.Leu1102Arg)
c.2465T>G (p.Leu822Arg)
16g.1511053A>GCA276668217IFT140c.4280T>C (p.Leu1427Pro)
c.1862T>C (p.Leu621Pro)
c.*2718T>C (n.*2718T>C)
n.4104T>C
c.1913T>C (p.Leu638Pro)
c.4034T>C (p.Leu1345Pro)
c.3305T>C (p.Leu1102Pro)
c.2465T>C (p.Leu822Pro)
 dbSNP gnomAD v2
16g.1511053A>TCA394222398IFT140c.4280T>A (p.Leu1427Gln)
c.1862T>A (p.Leu621Gln)
c.*2718T>A (n.*2718T>A)
n.4104T>A
c.1913T>A (p.Leu638Gln)
c.4034T>A (p.Leu1345Gln)
c.3305T>A (p.Leu1102Gln)
c.2465T>A (p.Leu822Gln)
16g.1511054G>ACA493031471IFT140c.4279C>T (p.Leu1427=)
c.1861C>T (p.Leu621=)
c.*2717C>T (n.*2717C>T)
n.4103C>T
c.1912C>T (p.Leu638=)
c.4033C>T (p.Leu1345=)
c.3304C>T (p.Leu1102=)
c.2464C>T (p.Leu822=)
 dbSNP gnomAD v3 gnomAD v4
16g.1511054G>CCA394222399IFT140c.4279C>G (p.Leu1427Val)
c.1861C>G (p.Leu621Val)
c.*2717C>G (n.*2717C>G)
n.4103C>G
c.1912C>G (p.Leu638Val)
c.4033C>G (p.Leu1345Val)
c.3304C>G (p.Leu1102Val)
c.2464C>G (p.Leu822Val)
16g.1511054G=CA2201718396IFT140c.4279C= (p.Leu1427=)
c.1861C= (p.Leu621=)
c.*2717C= (n.*2717C=)
n.4103C=
c.1912C= (p.Leu638=)
c.4033C= (p.Leu1345=)
c.3304C= (p.Leu1102=)
c.2464C= (p.Leu822=)
16g.1511054G>TCA394222400IFT140c.4279C>A (p.Leu1427Met)
c.1861C>A (p.Leu621Met)
c.*2717C>A (n.*2717C>A)
n.4103C>A
c.1912C>A (p.Leu638Met)
c.4033C>A (p.Leu1345Met)
c.3304C>A (p.Leu1102Met)
c.2464C>A (p.Leu822Met)
16g.1511055C>ACA7812800IFT140c.4278G>T (p.Gly1426=)
c.1860G>T (p.Gly620=)
c.*2716G>T (n.*2716G>T)
n.4102G>T
c.1911G>T (p.Gly637=)
c.4032G>T (p.Gly1344=)
c.3303G>T (p.Gly1101=)
c.2463G>T (p.Gly821=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511055C=CA2201718397IFT140c.4278G= (p.Gly1426=)
c.1860G= (p.Gly620=)
c.*2716G= (n.*2716G=)
n.4102G=
c.1911G= (p.Gly637=)
c.4032G= (p.Gly1344=)
c.3303G= (p.Gly1101=)
c.2463G= (p.Gly821=)
16g.1511055C>GCA493031475IFT140c.4278G>C (p.Gly1426=)
c.1860G>C (p.Gly620=)
c.*2716G>C (n.*2716G>C)
n.4102G>C
c.1911G>C (p.Gly637=)
c.4032G>C (p.Gly1344=)
c.3303G>C (p.Gly1101=)
c.2463G>C (p.Gly821=)
16g.1511055C>TCA7812799IFT140c.4278G>A (p.Gly1426=)
c.1860G>A (p.Gly620=)
c.*2716G>A (n.*2716G>A)
n.4102G>A
c.1911G>A (p.Gly637=)
c.4032G>A (p.Gly1344=)
c.3303G>A (p.Gly1101=)
c.2463G>A (p.Gly821=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511059dupCA7812798IFT140c.4278dup (p.Leu1427AlafsTer?)
c.1860dup (p.Leu621AlafsTer?)
c.*2716dup (n.*2716dup)
n.4102dup
c.1911dup (p.Leu638AlafsTer?)
c.4032dup (p.Leu1345AlafsTer?)
c.3303dup (p.Leu1102AlafsTer?)
c.2463dup (p.Leu822AlafsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1511059delCA620700865IFT140c.4278del (p.Leu1427TrpfsTer?)
c.1860del (p.Leu621TrpfsTer?)
c.*2716del (n.*2716del)
n.4102del
c.1911del (p.Leu638TrpfsTer?)
c.4032del (p.Leu1345TrpfsTer?)
c.3303del (p.Leu1102TrpfsTer?)
c.2463del (p.Leu822TrpfsTer?)
 gnomAD v2 gnomAD v4
16g.1511056C>ACA276668225IFT140c.4277G>T (p.Gly1426Val)
c.1859G>T (p.Gly620Val)
c.*2715G>T (n.*2715G>T)
n.4101G>T
c.1910G>T (p.Gly637Val)
c.4031G>T (p.Gly1344Val)
c.3302G>T (p.Gly1101Val)
c.2462G>T (p.Gly821Val)
 ClinVar dbSNP gnomAD v4
16g.1511056C=CA2201718398IFT140c.4277G= (p.Gly1426=)
c.1859G= (p.Gly620=)
c.*2715G= (n.*2715G=)
n.4101G=
c.1910G= (p.Gly637=)
c.4031G= (p.Gly1344=)
c.3302G= (p.Gly1101=)
c.2462G= (p.Gly821=)
16g.1511056C>GCA394222401IFT140c.4277G>C (p.Gly1426Ala)
c.1859G>C (p.Gly620Ala)
c.*2715G>C (n.*2715G>C)
n.4101G>C
c.1910G>C (p.Gly637Ala)
c.4031G>C (p.Gly1344Ala)
c.3302G>C (p.Gly1101Ala)
c.2462G>C (p.Gly821Ala)
 gnomAD v4
16g.1511056C>TCA10647032IFT140c.4277G>A (p.Gly1426Glu)
c.1859G>A (p.Gly620Glu)
c.*2715G>A (n.*2715G>A)
n.4101G>A
c.1910G>A (p.Gly637Glu)
c.4031G>A (p.Gly1344Glu)
c.3302G>A (p.Gly1101Glu)
c.2462G>A (p.Gly821Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.1511057C>ACA276668232IFT140c.4276G>T (p.Gly1426Trp)
c.1858G>T (p.Gly620Trp)
c.*2714G>T (n.*2714G>T)
n.4100G>T
c.1909G>T (p.Gly637Trp)
c.4030G>T (p.Gly1344Trp)
c.3301G>T (p.Gly1101Trp)
c.2461G>T (p.Gly821Trp)
 dbSNP
16g.1511057C=CA2201718399IFT140c.4276G= (p.Gly1426=)
c.1858G= (p.Gly620=)
c.*2714G= (n.*2714G=)
n.4100G=
c.1909G= (p.Gly637=)
c.4030G= (p.Gly1344=)
c.3301G= (p.Gly1101=)
c.2461G= (p.Gly821=)
16g.1511057C>GCA394222402IFT140c.4276G>C (p.Gly1426Arg)
c.1858G>C (p.Gly620Arg)
c.*2714G>C (n.*2714G>C)
n.4100G>C
c.1909G>C (p.Gly637Arg)
c.4030G>C (p.Gly1344Arg)
c.3301G>C (p.Gly1101Arg)
c.2461G>C (p.Gly821Arg)
16g.1511057C>TCA394222403IFT140c.4276G>A (p.Gly1426Arg)
c.1858G>A (p.Gly620Arg)
c.*2714G>A (n.*2714G>A)
n.4100G>A
c.1909G>A (p.Gly637Arg)
c.4030G>A (p.Gly1344Arg)
c.3301G>A (p.Gly1101Arg)
c.2461G>A (p.Gly821Arg)
16g.1511058C>ACA493031481IFT140c.4275G>T (p.Arg1425=)
c.1857G>T (p.Arg619=)
c.*2713G>T (n.*2713G>T)
n.4099G>T
c.1908G>T (p.Arg636=)
c.4029G>T (p.Arg1343=)
c.3300G>T (p.Arg1100=)
c.2460G>T (p.Arg820=)
16g.1511058C=CA2201718400IFT140c.4275G= (p.Arg1425=)
c.1857G= (p.Arg619=)
c.*2713G= (n.*2713G=)
n.4099G=
c.1908G= (p.Arg636=)
c.4029G= (p.Arg1343=)
c.3300G= (p.Arg1100=)
c.2460G= (p.Arg820=)
16g.1511058C>GCA493031480IFT140c.4275G>C (p.Arg1425=)
c.1857G>C (p.Arg619=)
c.*2713G>C (n.*2713G>C)
n.4099G>C
c.1908G>C (p.Arg636=)
c.4029G>C (p.Arg1343=)
c.3300G>C (p.Arg1100=)
c.2460G>C (p.Arg820=)
16g.1511058C>TCA493031479IFT140c.4275G>A (p.Arg1425=)
c.1857G>A (p.Arg619=)
c.*2713G>A (n.*2713G>A)
n.4099G>A
c.1908G>A (p.Arg636=)
c.4029G>A (p.Arg1343=)
c.3300G>A (p.Arg1100=)
c.2460G>A (p.Arg820=)
 dbSNP gnomAD v4
16g.1511058_1511059delinsTTCA645593041IFT140c.4274_4275delinsAA (p.Arg1425Gln)
c.1856_1857delinsAA (p.Arg619Gln)
c.*2712_*2713delinsAA (n.*2712_*2713delinsAA)
n.4098_4099delinsAA
c.1907_1908delinsAA (p.Arg636Gln)
c.4028_4029delinsAA (p.Arg1343Gln)
c.3299_3300delinsAA (p.Arg1100Gln)
c.2459_2460delinsAA (p.Arg820Gln)
 COSMIC
16g.1511059C>ACA394222404IFT140c.4274G>T (p.Arg1425Leu)
c.1856G>T (p.Arg619Leu)
c.*2712G>T (n.*2712G>T)
n.4098G>T
c.1907G>T (p.Arg636Leu)
c.4028G>T (p.Arg1343Leu)
c.3299G>T (p.Arg1100Leu)
c.2459G>T (p.Arg820Leu)
16g.1511059C=CA2201718401IFT140c.4274G= (p.Arg1425=)
c.1856G= (p.Arg619=)
c.*2712G= (n.*2712G=)
n.4098G=
c.1907G= (p.Arg636=)
c.4028G= (p.Arg1343=)
c.3299G= (p.Arg1100=)
c.2459G= (p.Arg820=)
16g.1511059C>GCA394222405IFT140c.4274G>C (p.Arg1425Pro)
c.1856G>C (p.Arg619Pro)
c.*2712G>C (n.*2712G>C)
n.4098G>C
c.1907G>C (p.Arg636Pro)
c.4028G>C (p.Arg1343Pro)
c.3299G>C (p.Arg1100Pro)
c.2459G>C (p.Arg820Pro)
 gnomAD v4
16g.1511059C>TCA7812801IFT140c.4274G>A (p.Arg1425Gln)
c.1856G>A (p.Arg619Gln)
c.*2712G>A (n.*2712G>A)
n.4098G>A
c.1907G>A (p.Arg636Gln)
c.4028G>A (p.Arg1343Gln)
c.3299G>A (p.Arg1100Gln)
c.2459G>A (p.Arg820Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched