Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.1510969_1510989del | CA7812771 | IFT140 | c.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 |
16 | g.1510988C>A | CA394222266 | IFT140 | c.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) | |
16 | g.1510988C= | CA2201718363 | IFT140 | c.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=) | |
16 | g.1510988C>G | CA394222267 | IFT140 | c.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) | |
16 | g.1510988C>T | CA394222268 | IFT140 | c.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 |
16 | g.1510989C>A | CA394222269 | IFT140 | c.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) | |
16 | g.1510989C>G | CA394222270 | IFT140 | c.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) | |
16 | g.1510989C>T | CA493031362 | IFT140 | c.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=) | |
16 | g.1510990C>A | CA394222271 | IFT140 | c.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) | |
16 | g.1510990C>G | CA394222272 | IFT140 | c.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) | |
16 | g.1510990C>T | CA394222273 | IFT140 | c.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) | |
16 | g.1510991T>A | CA394222274 | IFT140 | c.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) | |
16 | g.1510991T>C | CA394222275 | IFT140 | c.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) | |
16 | g.1510991T>G | CA493031366 | IFT140 | c.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=) | |
16 | g.1510991_1510992delinsTG | CA2201718364 | IFT140 | c.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=) | |
16 | g.1510992G>A | CA493031372 | IFT140 | c.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 |
16 | g.1510992G>C | CA493031371 | IFT140 | c.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=) | |
16 | g.1510992G>T | CA493031369 | IFT140 | c.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=) | |
16 | g.1510993del | CA620700848 | IFT140 | c.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 |
16 | g.1510993G>A | CA394222278 | IFT140 | c.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) | |
16 | g.1510993G>C | CA394222277 | IFT140 | c.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) | |
16 | g.1510993G>T | CA394222276 | IFT140 | c.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) | |
16 | g.1510994C>A | CA394222279 | IFT140 | c.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 |
16 | g.1510994C= | CA2201718365 | IFT140 | c.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=) | |
16 | g.1510994C>G | CA394222280 | IFT140 | c.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) | |
16 | g.1510994C>T | CA7812779 | IFT140 | c.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 |
16 | g.1510995G>A | CA7812780 | IFT140 | c.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 |
16 | g.1510995G>C | CA394222281 | IFT140 | c.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) | |
16 | g.1510995G= | CA2201718366 | IFT140 | c.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=) | |
16 | g.1510995G>T | CA394222282 | IFT140 | c.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) | |
16 | g.1510996T>A | CA394222283 | IFT140 | c.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) | |
16 | g.1510996T>C | CA394222284 | IFT140 | c.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) | |
16 | g.1510996T>G | CA394222285 | IFT140 | c.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) | |
16 | g.1510996_1510997insTGGGGATCGCGCCCCAGCC | CA2805557712 | IFT140 | c.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) | |
16 | g.1510997C>A | CA394222286 | IFT140 | c.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) | |
16 | g.1510997C= | CA2201718367 | IFT140 | c.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=) | |
16 | g.1510997C>G | CA394222287 | IFT140 | c.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) | |
16 | g.1510997C>T | CA7812781 | IFT140 | c.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 |
16 | g.1510998C>A | CA394222288 | IFT140 | c.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) | |
16 | g.1510998C>G | CA394222289 | IFT140 | c.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) | |
16 | g.1510998C>T | CA493031379 | IFT140 | c.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 |
16 | g.1510999T>A | CA394222291 | IFT140 | c.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) | |
16 | g.1510999T>C | CA394222292 | IFT140 | c.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) | |
16 | g.1510999T>G | CA394222290 | IFT140 | c.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) | |
16 | g.1510999_1511000insGCCCGTCGTGGCCGCCGGCGCCCTCCTGACCG | CA2805557714 | IFT140 | c.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?) | |
16 | g.1511000C>A | CA7812782 | IFT140 | c.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 |
16 | g.1511000C= | CA2201718368 | IFT140 | c.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=) | |
16 | g.1511000C>G | CA394222293 | IFT140 | c.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) | |
16 | g.1511000C>T | CA394222294 | IFT140 | c.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) | |
16 | g.1511001C>A | CA394222295 | IFT140 | c.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) | |
16 | g.1511001C>G | CA394222296 | IFT140 | c.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) | |
16 | g.1511001C>T | CA394222297 | IFT140 | c.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) | |
16 | g.1511002A>C | CA394222300 | IFT140 | c.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 |
16 | g.1511002A>G | CA394222298 | IFT140 | c.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 |
16 | g.1511002A>T | CA394222299 | IFT140 | c.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) | |
16 | g.1511003T>A | CA394222301 | IFT140 | c.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) | |
16 | g.1511003T>C | CA7812783 | IFT140 | c.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 |
16 | g.1511003T>G | CA394222302 | IFT140 | c.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) | |
16 | g.1511003T= | CA2201718369 | IFT140 | c.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=) | |
16 | g.1511004G>A | CA493031381 | IFT140 | c.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=) | |
16 | g.1511004G>C | CA394222303 | IFT140 | c.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) | |
16 | g.1511004G>T | CA394222304 | IFT140 | c.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) | |
16 | g.1511005C>A | CA394222305 | IFT140 | c.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) | |
16 | g.1511005C>G | CA394222307 | IFT140 | c.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) | |
16 | g.1511005C>T | CA394222306 | IFT140 | c.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 |
16 | g.1511006T>A | CA394222308 | IFT140 | c.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 |
16 | g.1511006T>C | CA394222309 | IFT140 | c.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 |
16 | g.1511006T>G | CA394222310 | IFT140 | c.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) | |
16 | g.1511006T= | CA2201718370 | IFT140 | c.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=) | |
16 | g.1511007G>A | CA493031384 | IFT140 | c.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 |
16 | g.1511007G>C | CA394222311 | IFT140 | c.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) | |
16 | g.1511007G= | CA2201718371 | IFT140 | c.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=) | |
16 | g.1511007G>T | CA394222312 | IFT140 | c.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) | |
16 | g.1511008T>A | CA394222313 | IFT140 | c.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) | |
16 | g.1511008T>C | CA394222314 | IFT140 | c.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) | |
16 | g.1511008T>G | CA394222315 | IFT140 | c.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) | |
16 | g.1511009T>A | CA394222316 | IFT140 | c.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) | |
16 | g.1511009T>C | CA394222317 | IFT140 | c.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) | |
16 | g.1511009T>G | CA394222318 | IFT140 | c.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) | |
16 | g.1511010G>A | CA493031386 | IFT140 | c.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=) | |
16 | g.1511010G>C | CA394222320 | IFT140 | c.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 |
16 | g.1511010G= | CA2201718372 | IFT140 | c.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=) | |
16 | g.1511010G>T | CA394222319 | IFT140 | c.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) | |
16 | g.1511010dup | CA2573151741 | IFT140 | c.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 |
16 | g.1511011T>A | CA394222321 | IFT140 | c.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) | |
16 | g.1511011T>C | CA394222322 | IFT140 | c.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) | |
16 | g.1511011T>G | CA394222323 | IFT140 | c.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) | |
16 | g.1511012G>A | CA394222324 | IFT140 | c.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 |
16 | g.1511012G>C | CA394222325 | IFT140 | c.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) | |
16 | g.1511012G= | CA2201718373 | IFT140 | c.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=) | |
16 | g.1511012G>T | CA394222326 | IFT140 | c.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) | |
16 | g.1511013G>A | CA493031388 | IFT140 | c.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 |
16 | g.1511013G>C | CA493031389 | IFT140 | c.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=) | |
16 | g.1511013G= | CA2201718374 | IFT140 | c.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=) | |
16 | g.1511013G>T | CA493031390 | IFT140 | c.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=) | |
16 | g.1511014C>A | CA394222328 | IFT140 | c.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 |
16 | g.1511014C= | CA2201718375 | IFT140 | c.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=) | |
16 | g.1511014C>G | CA394222327 | IFT140 | c.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) | |
16 | g.1511014C>T | CA7812784 | IFT140 | c.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 |
16 | g.1511015G>A | CA7812785 | IFT140 | c.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 |
16 | g.1511015G>C | CA394222329 | IFT140 | c.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) | |
16 | g.1511015G= | CA2201718376 | IFT140 | c.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=) | |
16 | g.1511015G>T | CA394222330 | IFT140 | c.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) | |
16 | g.1511016G>A | CA493031397 | IFT140 | c.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=) | |
16 | g.1511016G>C | CA493031395 | IFT140 | c.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=) | |
16 | g.1511016G>T | CA493031396 | IFT140 | c.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=) | |
16 | g.1511017A= | CA2201718377 | IFT140 | c.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=) | |
16 | g.1511017A>C | CA394222331 | IFT140 | c.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) | |
16 | g.1511017A>G | CA7812786 | IFT140 | c.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 |
16 | g.1511017A>T | CA394222332 | IFT140 | c.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) | |
16 | g.1511018C>A | CA394222334 | IFT140 | c.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 |
16 | g.1511018C= | CA2201718378 | IFT140 | c.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=) | |
16 | g.1511018C>G | CA394222333 | IFT140 | c.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) | |
16 | g.1511018C>T | CA7812787 | IFT140 | c.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 |
16 | g.1511019C>A | CA394222335 | IFT140 | c.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 |
16 | g.1511019C>G | CA394222336 | IFT140 | c.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 |
16 | g.1511019C>T | CA493031402 | IFT140 | c.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 |
16 | g.1511020T>A | CA394222337 | IFT140 | c.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) | |
16 | g.1511020T>C | CA394222338 | IFT140 | c.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) | |
16 | g.1511020T>G | CA394222339 | IFT140 | c.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 |
16 | g.1511021G>A | CA394222340 | IFT140 | c.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) | |
16 | g.1511021G>C | CA394222341 | IFT140 | c.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) | |
16 | g.1511021G>T | CA394222342 | IFT140 | c.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 |
16 | g.1511022C>A | CA394222343 | IFT140 | c.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) | |
16 | g.1511022C>G | CA394222344 | IFT140 | c.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) | |
16 | g.1511022C>T | CA493031406 | IFT140 | c.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=) | |
16 | g.1511023T>A | CA394222345 | IFT140 | c.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) | |
16 | g.1511023T>C | CA394222346 | IFT140 | c.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) | |
16 | g.1511023T>G | CA394222347 | IFT140 | c.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) | |
16 | g.1511024C>A | CA394222349 | IFT140 | c.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) | |
16 | g.1511024C= | CA2201718379 | IFT140 | c.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=) | |
16 | g.1511024C>G | CA394222348 | IFT140 | c.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 |
16 | g.1511024C>T | CA7812788 | IFT140 | c.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 |
16 | g.1511024_1511025delinsCG | CA2201718380 | IFT140 | c.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=) | |
16 | g.1511025G>A | CA7812789 | IFT140 | c.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 |
16 | g.1511025G>C | CA493031409 | IFT140 | c.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 |
16 | g.1511025G= | CA2201718381 | IFT140 | c.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=) | |
16 | g.1511025G>T | CA493031410 | IFT140 | c.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 |
16 | g.1511028del | CA620700849 | IFT140 | c.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 |
16 | g.1511026G>A | CA394222350 | IFT140 | c.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) | |
16 | g.1511026G>C | CA394222351 | IFT140 | c.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) | |
16 | g.1511026G>T | CA394222352 | IFT140 | c.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) | |
16 | g.1511027G>A | CA394222353 | IFT140 | c.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) | |
16 | g.1511027G>C | CA7812790 | IFT140 | c.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 |
16 | g.1511027G= | CA2201718382 | IFT140 | c.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=) | |
16 | g.1511027G>T | CA394222354 | IFT140 | c.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) | |
16 | g.1511028G>A | CA493031413 | IFT140 | c.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=) | |
16 | g.1511028G>C | CA493031414 | IFT140 | c.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=) | |
16 | g.1511028G>T | CA493031416 | IFT140 | c.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=) | |
16 | g.1511029A>C | CA394222355 | IFT140 | c.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 |
16 | g.1511029A>G | CA394222357 | IFT140 | c.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) | |
16 | g.1511029A>T | CA394222356 | IFT140 | c.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) | |
16 | g.1511030C>A | CA394222358 | IFT140 | c.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) | |
16 | g.1511030C= | CA2201718383 | IFT140 | c.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=) | |
16 | g.1511030C>G | CA394222359 | IFT140 | c.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) | |
16 | g.1511030C>T | CA7812791 | IFT140 | c.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 |
16 | g.1511031G>A | CA7812792 | IFT140 | c.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 |
16 | g.1511031G>C | CA493031419 | IFT140 | c.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=) | |
16 | g.1511031G= | CA2201718384 | IFT140 | c.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=) | |
16 | g.1511031G>T | CA493031420 | IFT140 | c.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 |
16 | g.1511032G>A | CA394222362 | IFT140 | c.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 |
16 | g.1511032G>C | CA394222360 | IFT140 | c.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) | |
16 | g.1511032G= | CA2201718385 | IFT140 | c.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=) | |
16 | g.1511032G>T | CA394222361 | IFT140 | c.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 |
16 | g.1511033T>A | CA394222363 | IFT140 | c.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) | |
16 | g.1511033T>C | CA7812793 | IFT140 | c.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 |
16 | g.1511033T>G | CA394222364 | IFT140 | c.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) | |
16 | g.1511033T= | CA2201718386 | IFT140 | c.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=) | |
16 | g.1511034G>A | CA493031422 | IFT140 | c.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 |
16 | g.1511034G>C | CA493031423 | IFT140 | c.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 |
16 | g.1511034G>T | CA493031424 | IFT140 | c.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=) | |
16 | g.1511035C>A | CA394222365 | IFT140 | c.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) | |
16 | g.1511035C= | CA2201718387 | IFT140 | c.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=) | |
16 | g.1511035C>G | CA394222366 | IFT140 | c.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) | |
16 | g.1511035C>T | CA7812794 | IFT140 | c.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 |
16 | g.1511036G>A | CA7812795 | IFT140 | c.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 |
16 | g.1511036G>C | CA394222367 | IFT140 | c.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) | |
16 | g.1511036G= | CA2201718388 | IFT140 | c.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=) | |
16 | g.1511036G>T | CA394222368 | IFT140 | c.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) | |
16 | g.1511037T>A | CA493031430 | IFT140 | c.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=) | |
16 | g.1511037T>C | CA493031431 | IFT140 | c.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=) | |
16 | g.1511037T>G | CA493031432 | IFT140 | c.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=) | |
16 | g.1511038G>A | CA394222369 | IFT140 | c.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 |
16 | g.1511038G>C | CA394222370 | IFT140 | c.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) | |
16 | g.1511038G>T | CA394222371 | IFT140 | c.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) | |
16 | g.1511039G>A | CA394222372 | IFT140 | c.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 |
16 | g.1511039G>C | CA394222374 | IFT140 | c.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) | |
16 | g.1511039G>T | CA394222373 | IFT140 | c.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) | |
16 | g.1511040C>A | CA493031436 | IFT140 | c.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 |
16 | g.1511040C>G | CA493031437 | IFT140 | c.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 |
16 | g.1511040C>T | CA493031438 | IFT140 | c.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=) | |
16 | g.1511041A= | CA2201718389 | IFT140 | c.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=) | |
16 | g.1511041A>C | CA394222375 | IFT140 | c.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 |
16 | g.1511041A>G | CA394222377 | IFT140 | c.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) | |
16 | g.1511041A>T | CA394222376 | IFT140 | c.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) | |
16 | g.1511042G>A | CA493031442 | IFT140 | c.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 |
16 | g.1511042G>C | CA394222378 | IFT140 | c.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) | |
16 | g.1511042G= | CA2201718390 | IFT140 | c.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=) | |
16 | g.1511042G>T | CA394222379 | IFT140 | c.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 |
16 | g.1511043T>A | CA493031448 | IFT140 | c.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=) | |
16 | g.1511043T>C | CA493031447 | IFT140 | c.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=) | |
16 | g.1511043T>G | CA493031446 | IFT140 | c.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=) | |
16 | g.1511043_1511044insC | CA645593040 | IFT140 | c.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 |
16 | g.1511044G>A | CA394222380 | IFT140 | c.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) | |
16 | g.1511044G>C | CA394222381 | IFT140 | c.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) | |
16 | g.1511044G>T | CA394222382 | IFT140 | c.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) | |
16 | g.1511046dup | CA493031449 | IFT140 | c.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) | |
16 | g.1511045G>A | CA394222383 | IFT140 | c.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 |
16 | g.1511045G>C | CA394222384 | IFT140 | c.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) | |
16 | g.1511045G= | CA2201718391 | IFT140 | c.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=) | |
16 | g.1511045G>T | CA394222385 | IFT140 | c.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) | |
16 | g.1511046G>A | CA493031454 | IFT140 | c.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=) | |
16 | g.1511046G>C | CA493031455 | IFT140 | c.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=) | |
16 | g.1511046G>T | CA493031456 | IFT140 | c.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=) | |
16 | g.1511047A= | CA2201718392 | IFT140 | c.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=) | |
16 | g.1511047A>C | CA394222386 | IFT140 | c.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) | |
16 | g.1511047A>G | CA7812796 | IFT140 | c.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 |
16 | g.1511047A>T | CA394222387 | IFT140 | c.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) | |
16 | g.1511048G>A | CA394222390 | IFT140 | c.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) | |
16 | g.1511048G>C | CA394222389 | IFT140 | c.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) | |
16 | g.1511048G>T | CA394222388 | IFT140 | c.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) | |
16 | g.1511049A>C | CA493031462 | IFT140 | c.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=) | |
16 | g.1511049A>G | CA493031463 | IFT140 | c.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=) | |
16 | g.1511049A>T | CA493031464 | IFT140 | c.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=) | |
16 | g.1511050C>A | CA394222391 | IFT140 | c.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 |
16 | g.1511050C= | CA2201718393 | IFT140 | c.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=) | |
16 | g.1511050C>G | CA394222392 | IFT140 | c.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 |
16 | g.1511050C>T | CA394222393 | IFT140 | c.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) | |
16 | g.1511052del | CA2575869159 | IFT140 | c.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?) | |
16 | g.1511051C>A | CA394222394 | IFT140 | c.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) | |
16 | g.1511051C>G | CA394222395 | IFT140 | c.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) | |
16 | g.1511051C>T | CA394222396 | IFT140 | c.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) | |
16 | g.1511052C>A | CA7812797 | IFT140 | c.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 |
16 | g.1511052C= | CA2201718394 | IFT140 | c.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=) | |
16 | g.1511052C>G | CA493031469 | IFT140 | c.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=) | |
16 | g.1511052C>T | CA493031470 | IFT140 | c.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 |
16 | g.1511053A= | CA2201718395 | IFT140 | c.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=) | |
16 | g.1511053A>C | CA394222397 | IFT140 | c.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) | |
16 | g.1511053A>G | CA276668217 | IFT140 | c.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 |
16 | g.1511053A>T | CA394222398 | IFT140 | c.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) | |
16 | g.1511054G>A | CA493031471 | IFT140 | c.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 |
16 | g.1511054G>C | CA394222399 | IFT140 | c.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) | |
16 | g.1511054G= | CA2201718396 | IFT140 | c.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=) | |
16 | g.1511054G>T | CA394222400 | IFT140 | c.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) | |
16 | g.1511055C>A | CA7812800 | IFT140 | c.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 |
16 | g.1511055C= | CA2201718397 | IFT140 | c.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=) | |
16 | g.1511055C>G | CA493031475 | IFT140 | c.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=) | |
16 | g.1511055C>T | CA7812799 | IFT140 | c.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 |
16 | g.1511059dup | CA7812798 | IFT140 | c.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 |
16 | g.1511059del | CA620700865 | IFT140 | c.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 |
16 | g.1511056C>A | CA276668225 | IFT140 | c.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 |
16 | g.1511056C= | CA2201718398 | IFT140 | c.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=) | |
16 | g.1511056C>G | CA394222401 | IFT140 | c.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 |
16 | g.1511056C>T | CA10647032 | IFT140 | c.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 |
16 | g.1511057C>A | CA276668232 | IFT140 | c.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 |
16 | g.1511057C= | CA2201718399 | IFT140 | c.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=) | |
16 | g.1511057C>G | CA394222402 | IFT140 | c.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) | |
16 | g.1511057C>T | CA394222403 | IFT140 | c.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) | |
16 | g.1511058C>A | CA493031481 | IFT140 | c.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=) | |
16 | g.1511058C= | CA2201718400 | IFT140 | c.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=) | |
16 | g.1511058C>G | CA493031480 | IFT140 | c.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=) | |
16 | g.1511058C>T | CA493031479 | IFT140 | c.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 |
16 | g.1511058_1511059delinsTT | CA645593041 | IFT140 | c.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 |
16 | g.1511059C>A | CA394222404 | IFT140 | c.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) | |
16 | g.1511059C= | CA2201718401 | IFT140 | c.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=) | |
16 | g.1511059C>G | CA394222405 | IFT140 | c.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 |
16 | g.1511059C>T | CA7812801 | IFT140 | c.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 |
16 | g.1511060G>A | CA7812803 | IFT140 | c.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 |
16 | g.1511060G>C | CA394222406 | IFT140 | c.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 |
16 | g.1511060G= | CA2201718402 | IFT140 | c.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=) | |
16 | g.1511060G>T | CA7812802 | IFT140 | c.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 |
16 | g.1511061G>A | CA7812805 | IFT140 | c.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 |
16 | g.1511061G>C | CA394222407 | IFT140 | c.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) | |
16 | g.1511061G= | CA2201718403 | IFT140 | c.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=) | |
16 | g.1511061G>T | CA7812804 | IFT140 | c.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 |
16 | g.1511062T>A | CA394222408 | IFT140 | c.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 |
16 | g.1511062T>C | CA394222409 | IFT140 | c.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) | |
16 | g.1511062T>G | CA394222410 | IFT140 | c.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 |
16 | g.1511063G>A | CA394222411 | IFT140 | c.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 |
16 | g.1511063G>C | CA394222412 | IFT140 | c.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) | |
16 | g.1511063G>T | CA394222413 | IFT140 | c.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) | |
16 | g.1511064C>A | CA493031491 | IFT140 | c.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=) | |
16 | g.1511064C= | CA2201718404 | IFT140 | c.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=) | |
16 | g.1511064C>G | CA493031493 | IFT140 | c.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=) | |
16 | g.1511064C>T | CA493031492 | IFT140 | c.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 |
16 | g.1511065A= | CA2201718405 | IFT140 | c.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=) | |
16 | g.1511065A>C | CA394222414 | IFT140 | c.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 |
16 | g.1511065A>G | CA394222416 | IFT140 | c.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) | |
16 | g.1511065A>T | CA394222415 | IFT140 | c.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) | |
16 | g.1511066C>A | CA394222417 | IFT140 | c.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) | |
16 | g.1511066C= | CA2201718406 | IFT140 | c.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=) | |
16 | g.1511066C>G | CA394222418 | IFT140 | c.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) | |
16 | g.1511066C>T | CA7812806 | IFT140 | c.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 |
16 | g.1511067G>A | CA7812807 | IFT140 | c.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 |
16 | g.1511067G>C | CA493031502 | IFT140 | c.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=) | |
16 | g.1511067G= | CA2201718407 | IFT140 | c.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=) | |
16 | g.1511067G>T | CA493031503 | IFT140 | c.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=) | |
16 | g.1511068G>A | CA394222419 | IFT140 | c.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) | |
16 | g.1511068G>C | CA394222421 | IFT140 | c.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 |
16 | g.1511068G= | CA2201718408 | IFT140 | c.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=) | |
16 | g.1511068G>T | CA394222420 | IFT140 | c.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) | |
16 | g.1511069C>A | CA394222422 | IFT140 | c.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 |
16 | g.1511069C= | CA2201718409 | IFT140 | c.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=) | |
16 | g.1511069C>G | CA394222423 | IFT140 | c.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) | |
16 | g.1511069C>T | CA7812808 | IFT140 | c.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 |
16 | g.1511070G>A | CA7812809 | IFT140 | c.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 |
16 | g.1511070G>C | CA394222425 | IFT140 | c.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) | |
16 | g.1511070G= | CA2201718410 | IFT140 | c.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=) | |
16 | g.1511070G>T | CA394222424 | IFT140 | c.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) | |
16 | g.1511071T>A | CA394222426 | IFT140 | c.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) | |
16 | g.1511071T>C | CA394222428 | IFT140 | c.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 |
16 | g.1511071T>G | CA394222427 | IFT140 | c.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) | |
16 | g.1511072C>A | CA394222429 | IFT140 | c.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) | |
16 | g.1511072C>G | CA394222430 | IFT140 | c.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) | |
16 | g.1511072C>T | CA394222431 | IFT140 | c.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 |
16 | g.1511073C>A | CA493031512 | IFT140 | c.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=) | |
16 | g.1511073C= | CA2201718411 | IFT140 | c.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=) | |
16 | g.1511073C>G | CA7812810 | IFT140 | c.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 |
16 | g.1511073C>T | CA493031518 | IFT140 | c.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 |
16 | g.1511074A>C | CA394222432 | IFT140 | c.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) | |
16 | g.1511074A>G | CA394222433 | IFT140 | c.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) | |
16 | g.1511074A>T | CA394222434 | IFT140 | c.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) | |
16 | g.1511075C>A | CA394222435 | IFT140 | c.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) | |
16 | g.1511075C= | CA2201718412 | IFT140 | c.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=) | |
16 | g.1511075C>G | CA394222436 | IFT140 | c.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) | |
16 | g.1511075C>T | CA7812811 | IFT140 | c.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 |
16 | g.1511076G>A | CA7812812 | IFT140 | c.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 |
16 | g.1511076G>C | CA493031520 | IFT140 | c.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=) | |
16 | g.1511076G= | CA2201718413 | IFT140 | c.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=) | |
16 | g.1511076G>T | CA493031522 | IFT140 | c.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=) | |
16 | g.1511077G>A | CA394222439 | IFT140 | c.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 |
16 | g.1511077G>C | CA394222437 | IFT140 | c.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) | |
16 | g.1511077G= | CA2201718414 | IFT140 | c.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=) | |
16 | g.1511077G>T | CA394222438 | IFT140 | c.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 |
16 | g.1511078C>A | CA394222440 | IFT140 | c.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) | |
16 | g.1511078C>G | CA394222441 | IFT140 | c.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 |
16 | g.1511078C>T | CA394222442 | IFT140 | c.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) | |
16 | g.1511079C>A | CA394222443 | IFT140 | c.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) | |
16 | g.1511079C= | CA2201718415 | IFT140 | c.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=) | |
16 | g.1511079C>G | CA394222444 | IFT140 | c.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) | |
16 | g.1511079C>T | CA493031526 | IFT140 | c.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 |
16 | g.1511080del | CA2731680255 | IFT140 | c.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 |
16 | g.1511080T>A | CA394222445 | IFT140 | c.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) | |
16 | g.1511080T>C | CA394222446 | IFT140 | c.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 |
16 | g.1511080T>G | CA394222447 | IFT140 | c.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 |
16 | g.1511081G>A | CA394222448 | IFT140 | c.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 |
16 | g.1511081G>C | CA394222449 | IFT140 | c.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) | |
16 | g.1511081G= | CA2201718416 | IFT140 | c.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=) | |
16 | g.1511081G>T | CA394222450 | IFT140 | c.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) | |
16 | g.1511082C>A | CA493031529 | IFT140 | c.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=) | |
16 | g.1511082C= | CA2201718417 | IFT140 | c.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=) | |
16 | g.1511082C>G | CA493031530 | IFT140 | c.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=) | |
16 | g.1511082C>T | CA7812813 | IFT140 | c.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 |
16 | g.1511083G>A | CA7812814 | IFT140 | c.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 |
16 | g.1511083G>C | CA394222451 | IFT140 | c.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) | |
16 | g.1511083G= | CA2201718418 | IFT140 | c.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=) | |
16 | g.1511083G>T | CA7812815 | IFT140 | c.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 |
16 | g.1511084G>A | CA394222452 | IFT140 | c.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) | |
16 | g.1511084G>C | CA394222453 | IFT140 | c.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) | |
16 | g.1511084G>T | CA394222454 | IFT140 | c.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 |
16 | g.1511085G>A | CA493031532 | IFT140 | c.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=) | |
16 | g.1511085G>C | CA394222455 | IFT140 | c.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) | |
16 | g.1511085G>T | CA394222456 | IFT140 | c.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) | |
16 | g.1511086C>A | CA394222457 | IFT140 | c.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) | |
16 | g.1511086C= | CA2201718419 | IFT140 | c.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=) | |
16 | g.1511086C>G | CA394222458 | IFT140 | c.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) | |
16 | g.1511086C>T | CA7812816 | IFT140 | c.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 |
16 | g.1511087T>A | CA394222459 | IFT140 | c.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) | |
16 | g.1511087T>C | CA394222460 | IFT140 | c.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) | |
16 | g.1511087T>G | CA394222461 | IFT140 | c.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 |
16 | g.1511088C>A | CA493031541 | IFT140 | c.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 |
16 | g.1511088C= | CA2201718420 | IFT140 | c.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=) | |
16 | g.1511088C>G | CA493031542 | IFT140 | c.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=) | |
16 | g.1511088C>T | CA493031543 | IFT140 | c.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 |