Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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
16g.1511060G>ACA7812803IFT140c.4273C>T (p.Arg1425Trp)
c.1855C>T (p.Arg619Trp)
c.*2711C>T (n.*2711C>T)
n.4097C>T
c.1906C>T (p.Arg636Trp)
c.4027C>T (p.Arg1343Trp)
c.3298C>T (p.Arg1100Trp)
c.2458C>T (p.Arg820Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511060G>CCA394222406IFT140c.4273C>G (p.Arg1425Gly)
c.1855C>G (p.Arg619Gly)
c.*2711C>G (n.*2711C>G)
n.4097C>G
c.1906C>G (p.Arg636Gly)
c.4027C>G (p.Arg1343Gly)
c.3298C>G (p.Arg1100Gly)
c.2458C>G (p.Arg820Gly)
dbSNP gnomAD v2 gnomAD v4
16g.1511060G=CA2201718402IFT140c.4273C= (p.Arg1425=)
c.1855C= (p.Arg619=)
c.*2711C= (n.*2711C=)
n.4097C=
c.1906C= (p.Arg636=)
c.4027C= (p.Arg1343=)
c.3298C= (p.Arg1100=)
c.2458C= (p.Arg820=)
16g.1511060G>TCA7812802IFT140c.4273C>A (p.Arg1425=)
c.1855C>A (p.Arg619=)
c.*2711C>A (n.*2711C>A)
n.4097C>A
c.1906C>A (p.Arg636=)
c.4027C>A (p.Arg1343=)
c.3298C>A (p.Arg1100=)
c.2458C>A (p.Arg820=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511061G>ACA7812805IFT140c.4272C>T (p.His1424=)
c.1854C>T (p.His618=)
c.*2710C>T (n.*2710C>T)
n.4096C>T
c.1905C>T (p.His635=)
c.4026C>T (p.His1342=)
c.3297C>T (p.His1099=)
c.2457C>T (p.His819=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.1511061G>CCA394222407IFT140c.4272C>G (p.His1424Gln)
c.1854C>G (p.His618Gln)
c.*2710C>G (n.*2710C>G)
n.4096C>G
c.1905C>G (p.His635Gln)
c.4026C>G (p.His1342Gln)
c.3297C>G (p.His1099Gln)
c.2457C>G (p.His819Gln)
16g.1511061G=CA2201718403IFT140c.4272C= (p.His1424=)
c.1854C= (p.His618=)
c.*2710C= (n.*2710C=)
n.4096C=
c.1905C= (p.His635=)
c.4026C= (p.His1342=)
c.3297C= (p.His1099=)
c.2457C= (p.His819=)
16g.1511061G>TCA7812804IFT140c.4272C>A (p.His1424Gln)
c.1854C>A (p.His618Gln)
c.*2710C>A (n.*2710C>A)
n.4096C>A
c.1905C>A (p.His635Gln)
c.4026C>A (p.His1342Gln)
c.3297C>A (p.His1099Gln)
c.2457C>A (p.His819Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.1511062T>ACA394222408IFT140c.4271A>T (p.His1424Leu)
c.1853A>T (p.His618Leu)
c.*2709A>T (n.*2709A>T)
n.4095A>T
c.1904A>T (p.His635Leu)
c.4025A>T (p.His1342Leu)
c.3296A>T (p.His1099Leu)
c.2456A>T (p.His819Leu)
gnomAD v4
16g.1511062T>CCA394222409IFT140c.4271A>G (p.His1424Arg)
c.1853A>G (p.His618Arg)
c.*2709A>G (n.*2709A>G)
n.4095A>G
c.1904A>G (p.His635Arg)
c.4025A>G (p.His1342Arg)
c.3296A>G (p.His1099Arg)
c.2456A>G (p.His819Arg)
16g.1511062T>GCA394222410IFT140c.4271A>C (p.His1424Pro)
c.1853A>C (p.His618Pro)
c.*2709A>C (n.*2709A>C)
n.4095A>C
c.1904A>C (p.His635Pro)
c.4025A>C (p.His1342Pro)
c.3296A>C (p.His1099Pro)
c.2456A>C (p.His819Pro)
gnomAD v4
16g.1511063G>ACA394222411IFT140c.4270C>T (p.His1424Tyr)
c.1852C>T (p.His618Tyr)
c.*2708C>T (n.*2708C>T)
n.4094C>T
c.1903C>T (p.His635Tyr)
c.4024C>T (p.His1342Tyr)
c.3295C>T (p.His1099Tyr)
c.2455C>T (p.His819Tyr)
ClinVar gnomAD v4
16g.1511063G>CCA394222412IFT140c.4270C>G (p.His1424Asp)
c.1852C>G (p.His618Asp)
c.*2708C>G (n.*2708C>G)
n.4094C>G
c.1903C>G (p.His635Asp)
c.4024C>G (p.His1342Asp)
c.3295C>G (p.His1099Asp)
c.2455C>G (p.His819Asp)
16g.1511063G>TCA394222413IFT140c.4270C>A (p.His1424Asn)
c.1852C>A (p.His618Asn)
c.*2708C>A (n.*2708C>A)
n.4094C>A
c.1903C>A (p.His635Asn)
c.4024C>A (p.His1342Asn)
c.3295C>A (p.His1099Asn)
c.2455C>A (p.His819Asn)
16g.1511064C>ACA493031491IFT140c.4269G>T (p.Val1423=)
c.1851G>T (p.Val617=)
c.*2707G>T (n.*2707G>T)
n.4093G>T
c.1902G>T (p.Val634=)
c.4023G>T (p.Val1341=)
c.3294G>T (p.Val1098=)
c.2454G>T (p.Val818=)
16g.1511064C=CA2201718404IFT140c.4269G= (p.Val1423=)
c.1851G= (p.Val617=)
c.*2707G= (n.*2707G=)
n.4093G=
c.1902G= (p.Val634=)
c.4023G= (p.Val1341=)
c.3294G= (p.Val1098=)
c.2454G= (p.Val818=)
16g.1511064C>GCA493031493IFT140c.4269G>C (p.Val1423=)
c.1851G>C (p.Val617=)
c.*2707G>C (n.*2707G>C)
n.4093G>C
c.1902G>C (p.Val634=)
c.4023G>C (p.Val1341=)
c.3294G>C (p.Val1098=)
c.2454G>C (p.Val818=)
16g.1511064C>TCA493031492IFT140c.4269G>A (p.Val1423=)
c.1851G>A (p.Val617=)
c.*2707G>A (n.*2707G>A)
n.4093G>A
c.1902G>A (p.Val634=)
c.4023G>A (p.Val1341=)
c.3294G>A (p.Val1098=)
c.2454G>A (p.Val818=)
dbSNP
16g.1511065A=CA2201718405IFT140c.4268T= (p.Val1423=)
c.1850T= (p.Val617=)
c.*2706T= (n.*2706T=)
n.4092T=
c.1901T= (p.Val634=)
c.4022T= (p.Val1341=)
c.3293T= (p.Val1098=)
c.2453T= (p.Val818=)
16g.1511065A>CCA394222414IFT140c.4268T>G (p.Val1423Gly)
c.1850T>G (p.Val617Gly)
c.*2706T>G (n.*2706T>G)
n.4092T>G
c.1901T>G (p.Val634Gly)
c.4022T>G (p.Val1341Gly)
c.3293T>G (p.Val1098Gly)
c.2453T>G (p.Val818Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1511065A>GCA394222416IFT140c.4268T>C (p.Val1423Ala)
c.1850T>C (p.Val617Ala)
c.*2706T>C (n.*2706T>C)
n.4092T>C
c.1901T>C (p.Val634Ala)
c.4022T>C (p.Val1341Ala)
c.3293T>C (p.Val1098Ala)
c.2453T>C (p.Val818Ala)
16g.1511065A>TCA394222415IFT140c.4268T>A (p.Val1423Glu)
c.1850T>A (p.Val617Glu)
c.*2706T>A (n.*2706T>A)
n.4092T>A
c.1901T>A (p.Val634Glu)
c.4022T>A (p.Val1341Glu)
c.3293T>A (p.Val1098Glu)
c.2453T>A (p.Val818Glu)
16g.1511066C>ACA394222417IFT140c.4267G>T (p.Val1423Leu)
c.1849G>T (p.Val617Leu)
c.*2705G>T (n.*2705G>T)
n.4091G>T
c.1900G>T (p.Val634Leu)
c.4021G>T (p.Val1341Leu)
c.3292G>T (p.Val1098Leu)
c.2452G>T (p.Val818Leu)
16g.1511066C=CA2201718406IFT140c.4267G= (p.Val1423=)
c.1849G= (p.Val617=)
c.*2705G= (n.*2705G=)
n.4091G=
c.1900G= (p.Val634=)
c.4021G= (p.Val1341=)
c.3292G= (p.Val1098=)
c.2452G= (p.Val818=)
16g.1511066C>GCA394222418IFT140c.4267G>C (p.Val1423Leu)
c.1849G>C (p.Val617Leu)
c.*2705G>C (n.*2705G>C)
n.4091G>C
c.1900G>C (p.Val634Leu)
c.4021G>C (p.Val1341Leu)
c.3292G>C (p.Val1098Leu)
c.2452G>C (p.Val818Leu)
16g.1511066C>TCA7812806IFT140c.4267G>A (p.Val1423Met)
c.1849G>A (p.Val617Met)
c.*2705G>A (n.*2705G>A)
n.4091G>A
c.1900G>A (p.Val634Met)
c.4021G>A (p.Val1341Met)
c.3292G>A (p.Val1098Met)
c.2452G>A (p.Val818Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511067G>ACA7812807IFT140c.4266C>T (p.Ala1422=)
c.1848C>T (p.Ala616=)
c.*2704C>T (n.*2704C>T)
n.4090C>T
c.1899C>T (p.Ala633=)
c.4020C>T (p.Ala1340=)
c.3291C>T (p.Ala1097=)
c.2451C>T (p.Ala817=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511067G>CCA493031502IFT140c.4266C>G (p.Ala1422=)
c.1848C>G (p.Ala616=)
c.*2704C>G (n.*2704C>G)
n.4090C>G
c.1899C>G (p.Ala633=)
c.4020C>G (p.Ala1340=)
c.3291C>G (p.Ala1097=)
c.2451C>G (p.Ala817=)
16g.1511067G=CA2201718407IFT140c.4266C= (p.Ala1422=)
c.1848C= (p.Ala616=)
c.*2704C= (n.*2704C=)
n.4090C=
c.1899C= (p.Ala633=)
c.4020C= (p.Ala1340=)
c.3291C= (p.Ala1097=)
c.2451C= (p.Ala817=)
16g.1511067G>TCA493031503IFT140c.4266C>A (p.Ala1422=)
c.1848C>A (p.Ala616=)
c.*2704C>A (n.*2704C>A)
n.4090C>A
c.1899C>A (p.Ala633=)
c.4020C>A (p.Ala1340=)
c.3291C>A (p.Ala1097=)
c.2451C>A (p.Ala817=)
16g.1511068G>ACA394222419IFT140c.4265C>T (p.Ala1422Val)
c.1847C>T (p.Ala616Val)
c.*2703C>T (n.*2703C>T)
n.4089C>T
c.1898C>T (p.Ala633Val)
c.4019C>T (p.Ala1340Val)
c.3290C>T (p.Ala1097Val)
c.2450C>T (p.Ala817Val)
16g.1511068G>CCA394222421IFT140c.4265C>G (p.Ala1422Gly)
c.1847C>G (p.Ala616Gly)
c.*2703C>G (n.*2703C>G)
n.4089C>G
c.1898C>G (p.Ala633Gly)
c.4019C>G (p.Ala1340Gly)
c.3290C>G (p.Ala1097Gly)
c.2450C>G (p.Ala817Gly)
dbSNP gnomAD v4
16g.1511068G=CA2201718408IFT140c.4265C= (p.Ala1422=)
c.1847C= (p.Ala616=)
c.*2703C= (n.*2703C=)
n.4089C=
c.1898C= (p.Ala633=)
c.4019C= (p.Ala1340=)
c.3290C= (p.Ala1097=)
c.2450C= (p.Ala817=)
16g.1511068G>TCA394222420IFT140c.4265C>A (p.Ala1422Asp)
c.1847C>A (p.Ala616Asp)
c.*2703C>A (n.*2703C>A)
n.4089C>A
c.1898C>A (p.Ala633Asp)
c.4019C>A (p.Ala1340Asp)
c.3290C>A (p.Ala1097Asp)
c.2450C>A (p.Ala817Asp)
16g.1511069C>ACA394222422IFT140c.4264G>T (p.Ala1422Ser)
c.1846G>T (p.Ala616Ser)
c.*2702G>T (n.*2702G>T)
n.4088G>T
c.1897G>T (p.Ala633Ser)
c.4018G>T (p.Ala1340Ser)
c.3289G>T (p.Ala1097Ser)
c.2449G>T (p.Ala817Ser)
gnomAD v4
16g.1511069C=CA2201718409IFT140c.4264G= (p.Ala1422=)
c.1846G= (p.Ala616=)
c.*2702G= (n.*2702G=)
n.4088G=
c.1897G= (p.Ala633=)
c.4018G= (p.Ala1340=)
c.3289G= (p.Ala1097=)
c.2449G= (p.Ala817=)
16g.1511069C>GCA394222423IFT140c.4264G>C (p.Ala1422Pro)
c.1846G>C (p.Ala616Pro)
c.*2702G>C (n.*2702G>C)
n.4088G>C
c.1897G>C (p.Ala633Pro)
c.4018G>C (p.Ala1340Pro)
c.3289G>C (p.Ala1097Pro)
c.2449G>C (p.Ala817Pro)
16g.1511069C>TCA7812808IFT140c.4264G>A (p.Ala1422Thr)
c.1846G>A (p.Ala616Thr)
c.*2702G>A (n.*2702G>A)
n.4088G>A
c.1897G>A (p.Ala633Thr)
c.4018G>A (p.Ala1340Thr)
c.3289G>A (p.Ala1097Thr)
c.2449G>A (p.Ala817Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511070G>ACA7812809IFT140c.4263C>T (p.Asp1421=)
c.1845C>T (p.Asp615=)
c.*2701C>T (n.*2701C>T)
n.4087C>T
c.1896C>T (p.Asp632=)
c.4017C>T (p.Asp1339=)
c.3288C>T (p.Asp1096=)
c.2448C>T (p.Asp816=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511070G>CCA394222425IFT140c.4263C>G (p.Asp1421Glu)
c.1845C>G (p.Asp615Glu)
c.*2701C>G (n.*2701C>G)
n.4087C>G
c.1896C>G (p.Asp632Glu)
c.4017C>G (p.Asp1339Glu)
c.3288C>G (p.Asp1096Glu)
c.2448C>G (p.Asp816Glu)
16g.1511070G=CA2201718410IFT140c.4263C= (p.Asp1421=)
c.1845C= (p.Asp615=)
c.*2701C= (n.*2701C=)
n.4087C=
c.1896C= (p.Asp632=)
c.4017C= (p.Asp1339=)
c.3288C= (p.Asp1096=)
c.2448C= (p.Asp816=)
16g.1511070G>TCA394222424IFT140c.4263C>A (p.Asp1421Glu)
c.1845C>A (p.Asp615Glu)
c.*2701C>A (n.*2701C>A)
n.4087C>A
c.1896C>A (p.Asp632Glu)
c.4017C>A (p.Asp1339Glu)
c.3288C>A (p.Asp1096Glu)
c.2448C>A (p.Asp816Glu)
16g.1511071T>ACA394222426IFT140c.4262A>T (p.Asp1421Val)
c.1844A>T (p.Asp615Val)
c.*2700A>T (n.*2700A>T)
n.4086A>T
c.1895A>T (p.Asp632Val)
c.4016A>T (p.Asp1339Val)
c.3287A>T (p.Asp1096Val)
c.2447A>T (p.Asp816Val)
16g.1511071T>CCA394222428IFT140c.4262A>G (p.Asp1421Gly)
c.1844A>G (p.Asp615Gly)
c.*2700A>G (n.*2700A>G)
n.4086A>G
c.1895A>G (p.Asp632Gly)
c.4016A>G (p.Asp1339Gly)
c.3287A>G (p.Asp1096Gly)
c.2447A>G (p.Asp816Gly)
dbSNP
16g.1511071T>GCA394222427IFT140c.4262A>C (p.Asp1421Ala)
c.1844A>C (p.Asp615Ala)
c.*2700A>C (n.*2700A>C)
n.4086A>C
c.1895A>C (p.Asp632Ala)
c.4016A>C (p.Asp1339Ala)
c.3287A>C (p.Asp1096Ala)
c.2447A>C (p.Asp816Ala)
16g.1511072C>ACA394222429IFT140c.4261G>T (p.Asp1421Tyr)
c.1843G>T (p.Asp615Tyr)
c.*2699G>T (n.*2699G>T)
n.4085G>T
c.1894G>T (p.Asp632Tyr)
c.4015G>T (p.Asp1339Tyr)
c.3286G>T (p.Asp1096Tyr)
c.2446G>T (p.Asp816Tyr)
16g.1511072C>GCA394222430IFT140c.4261G>C (p.Asp1421His)
c.1843G>C (p.Asp615His)
c.*2699G>C (n.*2699G>C)
n.4085G>C
c.1894G>C (p.Asp632His)
c.4015G>C (p.Asp1339His)
c.3286G>C (p.Asp1096His)
c.2446G>C (p.Asp816His)
16g.1511072C>TCA394222431IFT140c.4261G>A (p.Asp1421Asn)
c.1843G>A (p.Asp615Asn)
c.*2699G>A (n.*2699G>A)
n.4085G>A
c.1894G>A (p.Asp632Asn)
c.4015G>A (p.Asp1339Asn)
c.3286G>A (p.Asp1096Asn)
c.2446G>A (p.Asp816Asn)
gnomAD v4
16g.1511073C>ACA493031512IFT140c.4260G>T (p.Val1420=)
c.1842G>T (p.Val614=)
c.*2698G>T (n.*2698G>T)
n.4084G>T
c.1893G>T (p.Val631=)
c.4014G>T (p.Val1338=)
c.3285G>T (p.Val1095=)
c.2445G>T (p.Val815=)
16g.1511073C=CA2201718411IFT140c.4260G= (p.Val1420=)
c.1842G= (p.Val614=)
c.*2698G= (n.*2698G=)
n.4084G=
c.1893G= (p.Val631=)
c.4014G= (p.Val1338=)
c.3285G= (p.Val1095=)
c.2445G= (p.Val815=)
16g.1511073C>GCA7812810IFT140c.4260G>C (p.Val1420=)
c.1842G>C (p.Val614=)
c.*2698G>C (n.*2698G>C)
n.4084G>C
c.1893G>C (p.Val631=)
c.4014G>C (p.Val1338=)
c.3285G>C (p.Val1095=)
c.2445G>C (p.Val815=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511073C>TCA493031518IFT140c.4260G>A (p.Val1420=)
c.1842G>A (p.Val614=)
c.*2698G>A (n.*2698G>A)
n.4084G>A
c.1893G>A (p.Val631=)
c.4014G>A (p.Val1338=)
c.3285G>A (p.Val1095=)
c.2445G>A (p.Val815=)
dbSNP gnomAD v2 gnomAD v4
16g.1511074A>CCA394222432IFT140c.4259T>G (p.Val1420Gly)
c.1841T>G (p.Val614Gly)
c.*2697T>G (n.*2697T>G)
n.4083T>G
c.1892T>G (p.Val631Gly)
c.4013T>G (p.Val1338Gly)
c.3284T>G (p.Val1095Gly)
c.2444T>G (p.Val815Gly)
16g.1511074A>GCA394222433IFT140c.4259T>C (p.Val1420Ala)
c.1841T>C (p.Val614Ala)
c.*2697T>C (n.*2697T>C)
n.4083T>C
c.1892T>C (p.Val631Ala)
c.4013T>C (p.Val1338Ala)
c.3284T>C (p.Val1095Ala)
c.2444T>C (p.Val815Ala)
16g.1511074A>TCA394222434IFT140c.4259T>A (p.Val1420Glu)
c.1841T>A (p.Val614Glu)
c.*2697T>A (n.*2697T>A)
n.4083T>A
c.1892T>A (p.Val631Glu)
c.4013T>A (p.Val1338Glu)
c.3284T>A (p.Val1095Glu)
c.2444T>A (p.Val815Glu)
16g.1511075C>ACA394222435IFT140c.4258G>T (p.Val1420Leu)
c.1840G>T (p.Val614Leu)
c.*2696G>T (n.*2696G>T)
n.4082G>T
c.1891G>T (p.Val631Leu)
c.4012G>T (p.Val1338Leu)
c.3283G>T (p.Val1095Leu)
c.2443G>T (p.Val815Leu)
16g.1511075C=CA2201718412IFT140c.4258G= (p.Val1420=)
c.1840G= (p.Val614=)
c.*2696G= (n.*2696G=)
n.4082G=
c.1891G= (p.Val631=)
c.4012G= (p.Val1338=)
c.3283G= (p.Val1095=)
c.2443G= (p.Val815=)
16g.1511075C>GCA394222436IFT140c.4258G>C (p.Val1420Leu)
c.1840G>C (p.Val614Leu)
c.*2696G>C (n.*2696G>C)
n.4082G>C
c.1891G>C (p.Val631Leu)
c.4012G>C (p.Val1338Leu)
c.3283G>C (p.Val1095Leu)
c.2443G>C (p.Val815Leu)
16g.1511075C>TCA7812811IFT140c.4258G>A (p.Val1420Met)
c.1840G>A (p.Val614Met)
c.*2696G>A (n.*2696G>A)
n.4082G>A
c.1891G>A (p.Val631Met)
c.4012G>A (p.Val1338Met)
c.3283G>A (p.Val1095Met)
c.2443G>A (p.Val815Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511076G>ACA7812812IFT140c.4257C>T (p.Ala1419=)
c.1839C>T (p.Ala613=)
c.*2695C>T (n.*2695C>T)
n.4081C>T
c.1890C>T (p.Ala630=)
c.4011C>T (p.Ala1337=)
c.3282C>T (p.Ala1094=)
c.2442C>T (p.Ala814=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511076G>CCA493031520IFT140c.4257C>G (p.Ala1419=)
c.1839C>G (p.Ala613=)
c.*2695C>G (n.*2695C>G)
n.4081C>G
c.1890C>G (p.Ala630=)
c.4011C>G (p.Ala1337=)
c.3282C>G (p.Ala1094=)
c.2442C>G (p.Ala814=)
16g.1511076G=CA2201718413IFT140c.4257C= (p.Ala1419=)
c.1839C= (p.Ala613=)
c.*2695C= (n.*2695C=)
n.4081C=
c.1890C= (p.Ala630=)
c.4011C= (p.Ala1337=)
c.3282C= (p.Ala1094=)
c.2442C= (p.Ala814=)
16g.1511076G>TCA493031522IFT140c.4257C>A (p.Ala1419=)
c.1839C>A (p.Ala613=)
c.*2695C>A (n.*2695C>A)
n.4081C>A
c.1890C>A (p.Ala630=)
c.4011C>A (p.Ala1337=)
c.3282C>A (p.Ala1094=)
c.2442C>A (p.Ala814=)
16g.1511077G>ACA394222439IFT140c.4256C>T (p.Ala1419Val)
c.1838C>T (p.Ala613Val)
c.*2694C>T (n.*2694C>T)
n.4080C>T
c.1889C>T (p.Ala630Val)
c.4010C>T (p.Ala1337Val)
c.3281C>T (p.Ala1094Val)
c.2441C>T (p.Ala814Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1511077G>CCA394222437IFT140c.4256C>G (p.Ala1419Gly)
c.1838C>G (p.Ala613Gly)
c.*2694C>G (n.*2694C>G)
n.4080C>G
c.1889C>G (p.Ala630Gly)
c.4010C>G (p.Ala1337Gly)
c.3281C>G (p.Ala1094Gly)
c.2441C>G (p.Ala814Gly)
16g.1511077G=CA2201718414IFT140c.4256C= (p.Ala1419=)
c.1838C= (p.Ala613=)
c.*2694C= (n.*2694C=)
n.4080C=
c.1889C= (p.Ala630=)
c.4010C= (p.Ala1337=)
c.3281C= (p.Ala1094=)
c.2441C= (p.Ala814=)
16g.1511077G>TCA394222438IFT140c.4256C>A (p.Ala1419Asp)
c.1838C>A (p.Ala613Asp)
c.*2694C>A (n.*2694C>A)
n.4080C>A
c.1889C>A (p.Ala630Asp)
c.4010C>A (p.Ala1337Asp)
c.3281C>A (p.Ala1094Asp)
c.2441C>A (p.Ala814Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1511078C>ACA394222440IFT140c.4255G>T (p.Ala1419Ser)
c.1837G>T (p.Ala613Ser)
c.*2693G>T (n.*2693G>T)
n.4079G>T
c.1888G>T (p.Ala630Ser)
c.4009G>T (p.Ala1337Ser)
c.3280G>T (p.Ala1094Ser)
c.2440G>T (p.Ala814Ser)
16g.1511078C>GCA394222441IFT140c.4255G>C (p.Ala1419Pro)
c.1837G>C (p.Ala613Pro)
c.*2693G>C (n.*2693G>C)
n.4079G>C
c.1888G>C (p.Ala630Pro)
c.4009G>C (p.Ala1337Pro)
c.3280G>C (p.Ala1094Pro)
c.2440G>C (p.Ala814Pro)
gnomAD v4
16g.1511078C>TCA394222442IFT140c.4255G>A (p.Ala1419Thr)
c.1837G>A (p.Ala613Thr)
c.*2693G>A (n.*2693G>A)
n.4079G>A
c.1888G>A (p.Ala630Thr)
c.4009G>A (p.Ala1337Thr)
c.3280G>A (p.Ala1094Thr)
c.2440G>A (p.Ala814Thr)
16g.1511079C>ACA394222443IFT140c.4254G>T (p.Gln1418His)
c.1836G>T (p.Gln612His)
c.*2692G>T (n.*2692G>T)
n.4078G>T
c.1887G>T (p.Gln629His)
c.4008G>T (p.Gln1336His)
c.3279G>T (p.Gln1093His)
c.2439G>T (p.Gln813His)
16g.1511079C=CA2201718415IFT140c.4254G= (p.Gln1418=)
c.1836G= (p.Gln612=)
c.*2692G= (n.*2692G=)
n.4078G=
c.1887G= (p.Gln629=)
c.4008G= (p.Gln1336=)
c.3279G= (p.Gln1093=)
c.2439G= (p.Gln813=)
16g.1511079C>GCA394222444IFT140c.4254G>C (p.Gln1418His)
c.1836G>C (p.Gln612His)
c.*2692G>C (n.*2692G>C)
n.4078G>C
c.1887G>C (p.Gln629His)
c.4008G>C (p.Gln1336His)
c.3279G>C (p.Gln1093His)
c.2439G>C (p.Gln813His)
16g.1511079C>TCA493031526IFT140c.4254G>A (p.Gln1418=)
c.1836G>A (p.Gln612=)
c.*2692G>A (n.*2692G>A)
n.4078G>A
c.1887G>A (p.Gln629=)
c.4008G>A (p.Gln1336=)
c.3279G>A (p.Gln1093=)
c.2439G>A (p.Gln813=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1511080delCA2731680255IFT140c.4253del (p.Gln1418ArgfsTer?)
c.1835del (p.Gln612ArgfsTer?)
c.*2691del (n.*2691del)
n.4077del
c.1886del (p.Gln629ArgfsTer?)
c.4007del (p.Gln1336ArgfsTer?)
c.3278del (p.Gln1093ArgfsTer?)
c.2438del (p.Gln813ArgfsTer?)
dbSNP
16g.1511080T>ACA394222445IFT140c.4253A>T (p.Gln1418Leu)
c.1835A>T (p.Gln612Leu)
c.*2691A>T (n.*2691A>T)
n.4077A>T
c.1886A>T (p.Gln629Leu)
c.4007A>T (p.Gln1336Leu)
c.3278A>T (p.Gln1093Leu)
c.2438A>T (p.Gln813Leu)
16g.1511080T>CCA394222446IFT140c.4253A>G (p.Gln1418Arg)
c.1835A>G (p.Gln612Arg)
c.*2691A>G (n.*2691A>G)
n.4077A>G
c.1886A>G (p.Gln629Arg)
c.4007A>G (p.Gln1336Arg)
c.3278A>G (p.Gln1093Arg)
c.2438A>G (p.Gln813Arg)
gnomAD v4
16g.1511080T>GCA394222447IFT140c.4253A>C (p.Gln1418Pro)
c.1835A>C (p.Gln612Pro)
c.*2691A>C (n.*2691A>C)
n.4077A>C
c.1886A>C (p.Gln629Pro)
c.4007A>C (p.Gln1336Pro)
c.3278A>C (p.Gln1093Pro)
c.2438A>C (p.Gln813Pro)
gnomAD v4
16g.1511081G>ACA394222448IFT140c.4252C>T (p.Gln1418Ter)
c.1834C>T (p.Gln612Ter)
c.*2690C>T (n.*2690C>T)
n.4076C>T
c.1885C>T (p.Gln629Ter)
c.4006C>T (p.Gln1336Ter)
c.3277C>T (p.Gln1093Ter)
c.2437C>T (p.Gln813Ter)
dbSNP gnomAD v2 gnomAD v4
16g.1511081G>CCA394222449IFT140c.4252C>G (p.Gln1418Glu)
c.1834C>G (p.Gln612Glu)
c.*2690C>G (n.*2690C>G)
n.4076C>G
c.1885C>G (p.Gln629Glu)
c.4006C>G (p.Gln1336Glu)
c.3277C>G (p.Gln1093Glu)
c.2437C>G (p.Gln813Glu)
16g.1511081G=CA2201718416IFT140c.4252C= (p.Gln1418=)
c.1834C= (p.Gln612=)
c.*2690C= (n.*2690C=)
n.4076C=
c.1885C= (p.Gln629=)
c.4006C= (p.Gln1336=)
c.3277C= (p.Gln1093=)
c.2437C= (p.Gln813=)
16g.1511081G>TCA394222450IFT140c.4252C>A (p.Gln1418Lys)
c.1834C>A (p.Gln612Lys)
c.*2690C>A (n.*2690C>A)
n.4076C>A
c.1885C>A (p.Gln629Lys)
c.4006C>A (p.Gln1336Lys)
c.3277C>A (p.Gln1093Lys)
c.2437C>A (p.Gln813Lys)
16g.1511082C>ACA493031529IFT140c.4251G>T (p.Pro1417=)
c.1833G>T (p.Pro611=)
c.*2689G>T (n.*2689G>T)
n.4075G>T
c.1884G>T (p.Pro628=)
c.4005G>T (p.Pro1335=)
c.3276G>T (p.Pro1092=)
c.2436G>T (p.Pro812=)
16g.1511082C=CA2201718417IFT140c.4251G= (p.Pro1417=)
c.1833G= (p.Pro611=)
c.*2689G= (n.*2689G=)
n.4075G=
c.1884G= (p.Pro628=)
c.4005G= (p.Pro1335=)
c.3276G= (p.Pro1092=)
c.2436G= (p.Pro812=)
16g.1511082C>GCA493031530IFT140c.4251G>C (p.Pro1417=)
c.1833G>C (p.Pro611=)
c.*2689G>C (n.*2689G>C)
n.4075G>C
c.1884G>C (p.Pro628=)
c.4005G>C (p.Pro1335=)
c.3276G>C (p.Pro1092=)
c.2436G>C (p.Pro812=)
16g.1511082C>TCA7812813IFT140c.4251G>A (p.Pro1417=)
c.1833G>A (p.Pro611=)
c.*2689G>A (n.*2689G>A)
n.4075G>A
c.1884G>A (p.Pro628=)
c.4005G>A (p.Pro1335=)
c.3276G>A (p.Pro1092=)
c.2436G>A (p.Pro812=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511083G>ACA7812814IFT140c.4250C>T (p.Pro1417Leu)
c.1832C>T (p.Pro611Leu)
c.*2688C>T (n.*2688C>T)
n.4074C>T
c.1883C>T (p.Pro628Leu)
c.4004C>T (p.Pro1335Leu)
c.3275C>T (p.Pro1092Leu)
c.2435C>T (p.Pro812Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511083G>CCA394222451IFT140c.4250C>G (p.Pro1417Arg)
c.1832C>G (p.Pro611Arg)
c.*2688C>G (n.*2688C>G)
n.4074C>G
c.1883C>G (p.Pro628Arg)
c.4004C>G (p.Pro1335Arg)
c.3275C>G (p.Pro1092Arg)
c.2435C>G (p.Pro812Arg)
16g.1511083G=CA2201718418IFT140c.4250C= (p.Pro1417=)
c.1832C= (p.Pro611=)
c.*2688C= (n.*2688C=)
n.4074C=
c.1883C= (p.Pro628=)
c.4004C= (p.Pro1335=)
c.3275C= (p.Pro1092=)
c.2435C= (p.Pro812=)
16g.1511083G>TCA7812815IFT140c.4250C>A (p.Pro1417Gln)
c.1832C>A (p.Pro611Gln)
c.*2688C>A (n.*2688C>A)
n.4074C>A
c.1883C>A (p.Pro628Gln)
c.4004C>A (p.Pro1335Gln)
c.3275C>A (p.Pro1092Gln)
c.2435C>A (p.Pro812Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.1511084G>ACA394222452IFT140c.4249C>T (p.Pro1417Ser)
c.1831C>T (p.Pro611Ser)
c.*2687C>T (n.*2687C>T)
n.4073C>T
c.1882C>T (p.Pro628Ser)
c.4003C>T (p.Pro1335Ser)
c.3274C>T (p.Pro1092Ser)
c.2434C>T (p.Pro812Ser)
16g.1511084G>CCA394222453IFT140c.4249C>G (p.Pro1417Ala)
c.1831C>G (p.Pro611Ala)
c.*2687C>G (n.*2687C>G)
n.4073C>G
c.1882C>G (p.Pro628Ala)
c.4003C>G (p.Pro1335Ala)
c.3274C>G (p.Pro1092Ala)
c.2434C>G (p.Pro812Ala)
16g.1511084G>TCA394222454IFT140c.4249C>A (p.Pro1417Thr)
c.1831C>A (p.Pro611Thr)
c.*2687C>A (n.*2687C>A)
n.4073C>A
c.1882C>A (p.Pro628Thr)
c.4003C>A (p.Pro1335Thr)
c.3274C>A (p.Pro1092Thr)
c.2434C>A (p.Pro812Thr)
gnomAD v4
16g.1511085G>ACA493031532IFT140c.4248C>T (p.Ser1416=)
c.1830C>T (p.Ser610=)
c.*2686C>T (n.*2686C>T)
n.4072C>T
c.1881C>T (p.Ser627=)
c.4002C>T (p.Ser1334=)
c.3273C>T (p.Ser1091=)
c.2433C>T (p.Ser811=)
16g.1511085G>CCA394222455IFT140c.4248C>G (p.Ser1416Arg)
c.1830C>G (p.Ser610Arg)
c.*2686C>G (n.*2686C>G)
n.4072C>G
c.1881C>G (p.Ser627Arg)
c.4002C>G (p.Ser1334Arg)
c.3273C>G (p.Ser1091Arg)
c.2433C>G (p.Ser811Arg)
16g.1511085G>TCA394222456IFT140c.4248C>A (p.Ser1416Arg)
c.1830C>A (p.Ser610Arg)
c.*2686C>A (n.*2686C>A)
n.4072C>A
c.1881C>A (p.Ser627Arg)
c.4002C>A (p.Ser1334Arg)
c.3273C>A (p.Ser1091Arg)
c.2433C>A (p.Ser811Arg)
16g.1511086C>ACA394222457IFT140c.4247G>T (p.Ser1416Ile)
c.1829G>T (p.Ser610Ile)
c.*2685G>T (n.*2685G>T)
n.4071G>T
c.1880G>T (p.Ser627Ile)
c.4001G>T (p.Ser1334Ile)
c.3272G>T (p.Ser1091Ile)
c.2432G>T (p.Ser811Ile)
16g.1511086C=CA2201718419IFT140c.4247G= (p.Ser1416=)
c.1829G= (p.Ser610=)
c.*2685G= (n.*2685G=)
n.4071G=
c.1880G= (p.Ser627=)
c.4001G= (p.Ser1334=)
c.3272G= (p.Ser1091=)
c.2432G= (p.Ser811=)
16g.1511086C>GCA394222458IFT140c.4247G>C (p.Ser1416Thr)
c.1829G>C (p.Ser610Thr)
c.*2685G>C (n.*2685G>C)
n.4071G>C
c.1880G>C (p.Ser627Thr)
c.4001G>C (p.Ser1334Thr)
c.3272G>C (p.Ser1091Thr)
c.2432G>C (p.Ser811Thr)
16g.1511086C>TCA7812816IFT140c.4247G>A (p.Ser1416Asn)
c.1829G>A (p.Ser610Asn)
c.*2685G>A (n.*2685G>A)
n.4071G>A
c.1880G>A (p.Ser627Asn)
c.4001G>A (p.Ser1334Asn)
c.3272G>A (p.Ser1091Asn)
c.2432G>A (p.Ser811Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1511087T>ACA394222459IFT140c.4246A>T (p.Ser1416Cys)
c.1828A>T (p.Ser610Cys)
c.*2684A>T (n.*2684A>T)
n.4070A>T
c.1879A>T (p.Ser627Cys)
c.4000A>T (p.Ser1334Cys)
c.3271A>T (p.Ser1091Cys)
c.2431A>T (p.Ser811Cys)
16g.1511087T>CCA394222460IFT140c.4246A>G (p.Ser1416Gly)
c.1828A>G (p.Ser610Gly)
c.*2684A>G (n.*2684A>G)
n.4070A>G
c.1879A>G (p.Ser627Gly)
c.4000A>G (p.Ser1334Gly)
c.3271A>G (p.Ser1091Gly)
c.2431A>G (p.Ser811Gly)
16g.1511087T>GCA394222461IFT140c.4246A>C (p.Ser1416Arg)
c.1828A>C (p.Ser610Arg)
c.*2684A>C (n.*2684A>C)
n.4070A>C
c.1879A>C (p.Ser627Arg)
c.4000A>C (p.Ser1334Arg)
c.3271A>C (p.Ser1091Arg)
c.2431A>C (p.Ser811Arg)
COSMIC
16g.1511088C>ACA493031541IFT140c.4245G>T (p.Val1415=)
c.1827G>T (p.Val609=)
c.*2683G>T (n.*2683G>T)
n.4069G>T
c.1878G>T (p.Val626=)
c.3999G>T (p.Val1333=)
c.3270G>T (p.Val1090=)
c.2430G>T (p.Val810=)
gnomAD v4 COSMIC
16g.1511088C=CA2201718420IFT140c.4245G= (p.Val1415=)
c.1827G= (p.Val609=)
c.*2683G= (n.*2683G=)
n.4069G=
c.1878G= (p.Val626=)
c.3999G= (p.Val1333=)
c.3270G= (p.Val1090=)
c.2430G= (p.Val810=)
16g.1511088C>GCA493031542IFT140c.4245G>C (p.Val1415=)
c.1827G>C (p.Val609=)
c.*2683G>C (n.*2683G>C)
n.4069G>C
c.1878G>C (p.Val626=)
c.3999G>C (p.Val1333=)
c.3270G>C (p.Val1090=)
c.2430G>C (p.Val810=)
16g.1511088C>TCA493031543IFT140c.4245G>A (p.Val1415=)
c.1827G>A (p.Val609=)
c.*2683G>A (n.*2683G>A)
n.4069G>A
c.1878G>A (p.Val626=)
c.3999G>A (p.Val1333=)
c.3270G>A (p.Val1090=)
c.2430G>A (p.Val810=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched