Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.1523560A= | CA2201697779 | IFT140 | c.3411T= (p.Ser1137=) c.993T= (p.Ser331=) c.*1849T= (n.*1849T=) n.3235T= c.1044T= (p.Ser348=) c.3165T= (p.Ser1055=) c.2436T= (p.Ser812=) c.1596T= (p.Ser532=) | |
16 | g.1523560A>C | CA394225229 | IFT140 | c.3411T>G (p.Ser1137Arg) c.993T>G (p.Ser331Arg) c.*1849T>G (n.*1849T>G) n.3235T>G c.1044T>G (p.Ser348Arg) c.3165T>G (p.Ser1055Arg) c.2436T>G (p.Ser812Arg) c.1596T>G (p.Ser532Arg) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1523560A>G | CA493031770 | IFT140 | c.3411T>C (p.Ser1137=) c.993T>C (p.Ser331=) c.*1849T>C (n.*1849T>C) n.3235T>C c.1044T>C (p.Ser348=) c.3165T>C (p.Ser1055=) c.2436T>C (p.Ser812=) c.1596T>C (p.Ser532=) | gnomAD v4 |
16 | g.1523560A>T | CA394225230 | IFT140 | c.3411T>A (p.Ser1137Arg) c.993T>A (p.Ser331Arg) c.*1849T>A (n.*1849T>A) n.3235T>A c.1044T>A (p.Ser348Arg) c.3165T>A (p.Ser1055Arg) c.2436T>A (p.Ser812Arg) c.1596T>A (p.Ser532Arg) | |
16 | g.1523560dup | CA2631007149 | IFT140 | c.3411dup (p.Gln1138SerfsTer?) c.993dup (p.Gln332SerfsTer?) c.*1849dup (n.*1849dup) n.3235dup c.1044dup (p.Gln349SerfsTer?) c.3165dup (p.Gln1056SerfsTer?) c.2436dup (p.Gln813SerfsTer?) c.1596dup (p.Gln533SerfsTer?) | gnomAD v4 |
16 | g.1523561C>A | CA394225231 | IFT140 | c.3410G>T (p.Ser1137Ile) c.992G>T (p.Ser331Ile) c.*1848G>T (n.*1848G>T) n.3234G>T c.1043G>T (p.Ser348Ile) c.3164G>T (p.Ser1055Ile) c.2435G>T (p.Ser812Ile) c.1595G>T (p.Ser532Ile) | |
16 | g.1523561C>G | CA394225232 | IFT140 | c.3410G>C (p.Ser1137Thr) c.992G>C (p.Ser331Thr) c.*1848G>C (n.*1848G>C) n.3234G>C c.1043G>C (p.Ser348Thr) c.3164G>C (p.Ser1055Thr) c.2435G>C (p.Ser812Thr) c.1595G>C (p.Ser532Thr) | |
16 | g.1523561C>T | CA394225233 | IFT140 | c.3410G>A (p.Ser1137Asn) c.992G>A (p.Ser331Asn) c.*1848G>A (n.*1848G>A) n.3234G>A c.1043G>A (p.Ser348Asn) c.3164G>A (p.Ser1055Asn) c.2435G>A (p.Ser812Asn) c.1595G>A (p.Ser532Asn) | |
16 | g.1523561_1523562del | CA2805559214 | IFT140 | c.3409_3410del (p.Gln1138ValfsTer?) c.991_992del (p.Gln332ValfsTer?) c.*1847_*1848del (n.*1847_*1848del) n.3233_3234del c.1042_1043del (p.Gln349ValfsTer?) c.3163_3164del (p.Gln1056ValfsTer?) c.2434_2435del (p.Gln813ValfsTer?) c.1594_1595del (p.Gln533ValfsTer?) | |
16 | g.1523561_1523563delinsCTG | CA2201697780 | IFT140 | c.3408_3410delinsCAG (p.His1136=) c.990_992delinsCAG (p.His330=) c.*1846_*1848delinsCAG (n.*1846_*1848delinsCAG) n.3232_3234delinsCAG c.1041_1043delinsCAG (p.His347=) c.3162_3164delinsCAG (p.His1054=) c.2433_2435delinsCAG (p.His811=) c.1593_1595delinsCAG (p.His531=) | |
16 | g.1523562T>A | CA394225234 | IFT140 | c.3409A>T (p.Ser1137Cys) c.991A>T (p.Ser331Cys) c.*1847A>T (n.*1847A>T) n.3233A>T c.1042A>T (p.Ser348Cys) c.3163A>T (p.Ser1055Cys) c.2434A>T (p.Ser812Cys) c.1594A>T (p.Ser532Cys) | |
16 | g.1523562T>C | CA394225236 | IFT140 | c.3409A>G (p.Ser1137Gly) c.991A>G (p.Ser331Gly) c.*1847A>G (n.*1847A>G) n.3233A>G c.1042A>G (p.Ser348Gly) c.3163A>G (p.Ser1055Gly) c.2434A>G (p.Ser812Gly) c.1594A>G (p.Ser532Gly) | gnomAD v4 |
16 | g.1523562T>G | CA394225235 | IFT140 | c.3409A>C (p.Ser1137Arg) c.991A>C (p.Ser331Arg) c.*1847A>C (n.*1847A>C) n.3233A>C c.1042A>C (p.Ser348Arg) c.3163A>C (p.Ser1055Arg) c.2434A>C (p.Ser812Arg) c.1594A>C (p.Ser532Arg) | |
16 | g.1523564_1523565del | CA7813182 | IFT140 | c.3408_3409del (p.His1136GlnfsTer?) c.990_991del (p.His330GlnfsTer?) c.*1846_*1847del (n.*1846_*1847del) n.3232_3233del c.1041_1042del (p.His347GlnfsTer?) c.3162_3163del (p.His1054GlnfsTer?) c.2433_2434del (p.His811GlnfsTer?) c.1593_1594del (p.His531GlnfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1523564_1523572del | CA2631007153 | IFT140 | c.3401_3409del (p.Ile1134_His1136del) c.983_991del (p.Ile328_His330del) c.*1839_*1847del (n.*1839_*1847del) n.3225_3233del c.1034_1042del (p.Ile345_His347del) c.3155_3163del (p.Ile1052_His1054del) c.2426_2434del (p.Ile809_His811del) c.1586_1594del (p.Ile529_His531del) | gnomAD v4 |
16 | g.1523563G>A | CA493031775 | IFT140 | c.3408C>T (p.His1136=) c.990C>T (p.His330=) c.*1846C>T (n.*1846C>T) n.3232C>T c.1041C>T (p.His347=) c.3162C>T (p.His1054=) c.2433C>T (p.His811=) c.1593C>T (p.His531=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1523563G>C | CA7813183 | IFT140 | c.3408C>G (p.His1136Gln) c.990C>G (p.His330Gln) c.*1846C>G (n.*1846C>G) n.3232C>G c.1041C>G (p.His347Gln) c.3162C>G (p.His1054Gln) c.2433C>G (p.His811Gln) c.1593C>G (p.His531Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1523563G= | CA2201697781 | IFT140 | c.3408C= (p.His1136=) c.990C= (p.His330=) c.*1846C= (n.*1846C=) n.3232C= c.1041C= (p.His347=) c.3162C= (p.His1054=) c.2433C= (p.His811=) c.1593C= (p.His531=) | |
16 | g.1523563G>T | CA394225237 | IFT140 | c.3408C>A (p.His1136Gln) c.990C>A (p.His330Gln) c.*1846C>A (n.*1846C>A) n.3232C>A c.1041C>A (p.His347Gln) c.3162C>A (p.His1054Gln) c.2433C>A (p.His811Gln) c.1593C>A (p.His531Gln) | |
16 | g.1523564T>A | CA394225238 | IFT140 | c.3407A>T (p.His1136Leu) c.989A>T (p.His330Leu) c.*1845A>T (n.*1845A>T) n.3231A>T c.1040A>T (p.His347Leu) c.3161A>T (p.His1054Leu) c.2432A>T (p.His811Leu) c.1592A>T (p.His531Leu) | gnomAD v4 |
16 | g.1523564T>C | CA394225239 | IFT140 | c.3407A>G (p.His1136Arg) c.989A>G (p.His330Arg) c.*1845A>G (n.*1845A>G) n.3231A>G c.1040A>G (p.His347Arg) c.3161A>G (p.His1054Arg) c.2432A>G (p.His811Arg) c.1592A>G (p.His531Arg) | gnomAD v4 |
16 | g.1523564T>G | CA394225240 | IFT140 | c.3407A>C (p.His1136Pro) c.989A>C (p.His330Pro) c.*1845A>C (n.*1845A>C) n.3231A>C c.1040A>C (p.His347Pro) c.3161A>C (p.His1054Pro) c.2432A>C (p.His811Pro) c.1592A>C (p.His531Pro) | |
16 | g.1523565G>A | CA394225241 | IFT140 | c.3406C>T (p.His1136Tyr) c.988C>T (p.His330Tyr) c.*1844C>T (n.*1844C>T) n.3230C>T c.1039C>T (p.His347Tyr) c.3160C>T (p.His1054Tyr) c.2431C>T (p.His811Tyr) c.1591C>T (p.His531Tyr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.1523565G>C | CA394225242 | IFT140 | c.3406C>G (p.His1136Asp) c.988C>G (p.His330Asp) c.*1844C>G (n.*1844C>G) n.3230C>G c.1039C>G (p.His347Asp) c.3160C>G (p.His1054Asp) c.2431C>G (p.His811Asp) c.1591C>G (p.His531Asp) | |
16 | g.1523565G= | CA2201697782 | IFT140 | c.3406C= (p.His1136=) c.988C= (p.His330=) c.*1844C= (n.*1844C=) n.3230C= c.1039C= (p.His347=) c.3160C= (p.His1054=) c.2431C= (p.His811=) c.1591C= (p.His531=) | |
16 | g.1523565G>T | CA394225243 | IFT140 | c.3406C>A (p.His1136Asn) c.988C>A (p.His330Asn) c.*1844C>A (n.*1844C>A) n.3230C>A c.1039C>A (p.His347Asn) c.3160C>A (p.His1054Asn) c.2431C>A (p.His811Asn) c.1591C>A (p.His531Asn) | |
16 | g.1523566C>A | CA394225244 | IFT140 | c.3405G>T (p.Glu1135Asp) c.987G>T (p.Glu329Asp) c.*1843G>T (n.*1843G>T) n.3229G>T c.1038G>T (p.Glu346Asp) c.3159G>T (p.Glu1053Asp) c.2430G>T (p.Glu810Asp) c.1590G>T (p.Glu530Asp) | |
16 | g.1523566C>G | CA394225245 | IFT140 | c.3405G>C (p.Glu1135Asp) c.987G>C (p.Glu329Asp) c.*1843G>C (n.*1843G>C) n.3229G>C c.1038G>C (p.Glu346Asp) c.3159G>C (p.Glu1053Asp) c.2430G>C (p.Glu810Asp) c.1590G>C (p.Glu530Asp) | |
16 | g.1523566C>T | CA493031784 | IFT140 | c.3405G>A (p.Glu1135=) c.987G>A (p.Glu329=) c.*1843G>A (n.*1843G>A) n.3229G>A c.1038G>A (p.Glu346=) c.3159G>A (p.Glu1053=) c.2430G>A (p.Glu810=) c.1590G>A (p.Glu530=) | |
16 | g.1523567T>A | CA394225247 | IFT140 | c.3404A>T (p.Glu1135Val) c.986A>T (p.Glu329Val) c.*1842A>T (n.*1842A>T) n.3228A>T c.1037A>T (p.Glu346Val) c.3158A>T (p.Glu1053Val) c.2429A>T (p.Glu810Val) c.1589A>T (p.Glu530Val) | |
16 | g.1523567T>C | CA394225248 | IFT140 | c.3404A>G (p.Glu1135Gly) c.986A>G (p.Glu329Gly) c.*1842A>G (n.*1842A>G) n.3228A>G c.1037A>G (p.Glu346Gly) c.3158A>G (p.Glu1053Gly) c.2429A>G (p.Glu810Gly) c.1589A>G (p.Glu530Gly) | ClinVar dbSNP |
16 | g.1523567T>G | CA394225246 | IFT140 | c.3404A>C (p.Glu1135Ala) c.986A>C (p.Glu329Ala) c.*1842A>C (n.*1842A>C) n.3228A>C c.1037A>C (p.Glu346Ala) c.3158A>C (p.Glu1053Ala) c.2429A>C (p.Glu810Ala) c.1589A>C (p.Glu530Ala) | |
16 | g.1523568C>A | CA394225250 | IFT140 | c.3403G>T (p.Glu1135Ter) c.985G>T (p.Glu329Ter) c.*1841G>T (n.*1841G>T) n.3227G>T c.1036G>T (p.Glu346Ter) c.3157G>T (p.Glu1053Ter) c.2428G>T (p.Glu810Ter) c.1588G>T (p.Glu530Ter) | |
16 | g.1523568C= | CA2201697783 | IFT140 | c.3403G= (p.Glu1135=) c.985G= (p.Glu329=) c.*1841G= (n.*1841G=) n.3227G= c.1036G= (p.Glu346=) c.3157G= (p.Glu1053=) c.2428G= (p.Glu810=) c.1588G= (p.Glu530=) | |
16 | g.1523568C>G | CA394225249 | IFT140 | c.3403G>C (p.Glu1135Gln) c.985G>C (p.Glu329Gln) c.*1841G>C (n.*1841G>C) n.3227G>C c.1036G>C (p.Glu346Gln) c.3157G>C (p.Glu1053Gln) c.2428G>C (p.Glu810Gln) c.1588G>C (p.Glu530Gln) | |
16 | g.1523568C>T | CA7813184 | IFT140 | c.3403G>A (p.Glu1135Lys) c.985G>A (p.Glu329Lys) c.*1841G>A (n.*1841G>A) n.3227G>A c.1036G>A (p.Glu346Lys) c.3157G>A (p.Glu1053Lys) c.2428G>A (p.Glu810Lys) c.1588G>A (p.Glu530Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1523569G>A | CA7813185 | IFT140 | c.3402C>T (p.Ile1134=) c.984C>T (p.Ile328=) c.*1840C>T (n.*1840C>T) n.3226C>T c.1035C>T (p.Ile345=) c.3156C>T (p.Ile1052=) c.2427C>T (p.Ile809=) c.1587C>T (p.Ile529=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1523569G>C | CA394225251 | IFT140 | c.3402C>G (p.Ile1134Met) c.984C>G (p.Ile328Met) c.*1840C>G (n.*1840C>G) n.3226C>G c.1035C>G (p.Ile345Met) c.3156C>G (p.Ile1052Met) c.2427C>G (p.Ile809Met) c.1587C>G (p.Ile529Met) | |
16 | g.1523569G= | CA2201697784 | IFT140 | c.3402C= (p.Ile1134=) c.984C= (p.Ile328=) c.*1840C= (n.*1840C=) n.3226C= c.1035C= (p.Ile345=) c.3156C= (p.Ile1052=) c.2427C= (p.Ile809=) c.1587C= (p.Ile529=) | |
16 | g.1523569G>T | CA493031786 | IFT140 | c.3402C>A (p.Ile1134=) c.984C>A (p.Ile328=) c.*1840C>A (n.*1840C>A) n.3226C>A c.1035C>A (p.Ile345=) c.3156C>A (p.Ile1052=) c.2427C>A (p.Ile809=) c.1587C>A (p.Ile529=) | |
16 | g.1523570A>C | CA394225252 | IFT140 | c.3401T>G (p.Ile1134Ser) c.983T>G (p.Ile328Ser) c.*1839T>G (n.*1839T>G) n.3225T>G c.1034T>G (p.Ile345Ser) c.3155T>G (p.Ile1052Ser) c.2426T>G (p.Ile809Ser) c.1586T>G (p.Ile529Ser) | |
16 | g.1523570A>G | CA394225253 | IFT140 | c.3401T>C (p.Ile1134Thr) c.983T>C (p.Ile328Thr) c.*1839T>C (n.*1839T>C) n.3225T>C c.1034T>C (p.Ile345Thr) c.3155T>C (p.Ile1052Thr) c.2426T>C (p.Ile809Thr) c.1586T>C (p.Ile529Thr) | |
16 | g.1523570A>T | CA394225254 | IFT140 | c.3401T>A (p.Ile1134Asn) c.983T>A (p.Ile328Asn) c.*1839T>A (n.*1839T>A) n.3225T>A c.1034T>A (p.Ile345Asn) c.3155T>A (p.Ile1052Asn) c.2426T>A (p.Ile809Asn) c.1586T>A (p.Ile529Asn) | |
16 | g.1523571T>A | CA394225255 | IFT140 | c.3400A>T (p.Ile1134Phe) c.982A>T (p.Ile328Phe) c.*1838A>T (n.*1838A>T) n.3224A>T c.1033A>T (p.Ile345Phe) c.3154A>T (p.Ile1052Phe) c.2425A>T (p.Ile809Phe) c.1585A>T (p.Ile529Phe) | |
16 | g.1523571T>C | CA394225256 | IFT140 | c.3400A>G (p.Ile1134Val) c.982A>G (p.Ile328Val) c.*1838A>G (n.*1838A>G) n.3224A>G c.1033A>G (p.Ile345Val) c.3154A>G (p.Ile1052Val) c.2425A>G (p.Ile809Val) c.1585A>G (p.Ile529Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1523571T>G | CA394225257 | IFT140 | c.3400A>C (p.Ile1134Leu) c.982A>C (p.Ile328Leu) c.*1838A>C (n.*1838A>C) n.3224A>C c.1033A>C (p.Ile345Leu) c.3154A>C (p.Ile1052Leu) c.2425A>C (p.Ile809Leu) c.1585A>C (p.Ile529Leu) | |
16 | g.1523571T= | CA2201697785 | IFT140 | c.3400A= (p.Ile1134=) c.982A= (p.Ile328=) c.*1838A= (n.*1838A=) n.3224A= c.1033A= (p.Ile345=) c.3154A= (p.Ile1052=) c.2425A= (p.Ile809=) c.1585A= (p.Ile529=) | |
16 | g.1523571_1523574delinsTGAA | CA2201697786 | IFT140 | c.3397_3400delinsTTCA (p.Phe1133=) c.979_982delinsTTCA (p.Phe327=) c.*1835_*1838delinsTTCA (n.*1835_*1838delinsTTCA) n.3221_3224delinsTTCA c.1030_1033delinsTTCA (p.Phe344=) c.3151_3154delinsTTCA (p.Phe1051=) c.2422_2425delinsTTCA (p.Phe808=) c.1582_1585delinsTTCA (p.Phe528=) | |
16 | g.1523572G>A | CA276677510 | IFT140 | c.3399C>T (p.Phe1133=) c.981C>T (p.Phe327=) c.*1837C>T (n.*1837C>T) n.3223C>T c.1032C>T (p.Phe344=) c.3153C>T (p.Phe1051=) c.2424C>T (p.Phe808=) c.1584C>T (p.Phe528=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.1523572G>C | CA394225258 | IFT140 | c.3399C>G (p.Phe1133Leu) c.981C>G (p.Phe327Leu) c.*1837C>G (n.*1837C>G) n.3223C>G c.1032C>G (p.Phe344Leu) c.3153C>G (p.Phe1051Leu) c.2424C>G (p.Phe808Leu) c.1584C>G (p.Phe528Leu) | |
16 | g.1523572G= | CA2201697787 | IFT140 | c.3399C= (p.Phe1133=) c.981C= (p.Phe327=) c.*1837C= (n.*1837C=) n.3223C= c.1032C= (p.Phe344=) c.3153C= (p.Phe1051=) c.2424C= (p.Phe808=) c.1584C= (p.Phe528=) | |
16 | g.1523572G>T | CA394225259 | IFT140 | c.3399C>A (p.Phe1133Leu) c.981C>A (p.Phe327Leu) c.*1837C>A (n.*1837C>A) n.3223C>A c.1032C>A (p.Phe344Leu) c.3153C>A (p.Phe1051Leu) c.2424C>A (p.Phe808Leu) c.1584C>A (p.Phe528Leu) | |
16 | g.1523576_1523578del | CA2201697788 | IFT140 | c.3397_3399del (p.Phe1133del) c.979_981del (p.Phe327del) c.*1835_*1837del (n.*1835_*1837del) n.3221_3223del c.1030_1032del (p.Phe344del) c.3151_3153del (p.Phe1051del) c.2422_2424del (p.Phe808del) c.1582_1584del (p.Phe528del) | ClinVar dbSNP gnomAD v4 |
16 | g.1523573A>C | CA394225262 | IFT140 | c.3398T>G (p.Phe1133Cys) c.980T>G (p.Phe327Cys) c.*1836T>G (n.*1836T>G) n.3222T>G c.1031T>G (p.Phe344Cys) c.3152T>G (p.Phe1051Cys) c.2423T>G (p.Phe808Cys) c.1583T>G (p.Phe528Cys) | |
16 | g.1523573A>G | CA394225261 | IFT140 | c.3398T>C (p.Phe1133Ser) c.980T>C (p.Phe327Ser) c.*1836T>C (n.*1836T>C) n.3222T>C c.1031T>C (p.Phe344Ser) c.3152T>C (p.Phe1051Ser) c.2423T>C (p.Phe808Ser) c.1583T>C (p.Phe528Ser) | |
16 | g.1523573A>T | CA394225260 | IFT140 | c.3398T>A (p.Phe1133Tyr) c.980T>A (p.Phe327Tyr) c.*1836T>A (n.*1836T>A) n.3222T>A c.1031T>A (p.Phe344Tyr) c.3152T>A (p.Phe1051Tyr) c.2423T>A (p.Phe808Tyr) c.1583T>A (p.Phe528Tyr) | |
16 | g.1523574A= | CA2201697789 | IFT140 | c.3397T= (p.Phe1133=) c.979T= (p.Phe327=) c.*1835T= (n.*1835T=) n.3221T= c.1030T= (p.Phe344=) c.3151T= (p.Phe1051=) c.2422T= (p.Phe808=) c.1582T= (p.Phe528=) | |
16 | g.1523574A>C | CA394225263 | IFT140 | c.3397T>G (p.Phe1133Val) c.979T>G (p.Phe327Val) c.*1835T>G (n.*1835T>G) n.3221T>G c.1030T>G (p.Phe344Val) c.3151T>G (p.Phe1051Val) c.2422T>G (p.Phe808Val) c.1582T>G (p.Phe528Val) | |
16 | g.1523574A>G | CA7813186 | IFT140 | c.3397T>C (p.Phe1133Leu) c.979T>C (p.Phe327Leu) c.*1835T>C (n.*1835T>C) n.3221T>C c.1030T>C (p.Phe344Leu) c.3151T>C (p.Phe1051Leu) c.2422T>C (p.Phe808Leu) c.1582T>C (p.Phe528Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1523574A>T | CA394225264 | IFT140 | c.3397T>A (p.Phe1133Ile) c.979T>A (p.Phe327Ile) c.*1835T>A (n.*1835T>A) n.3221T>A c.1030T>A (p.Phe344Ile) c.3151T>A (p.Phe1051Ile) c.2422T>A (p.Phe808Ile) c.1582T>A (p.Phe528Ile) | |
16 | g.1523575G>A | CA493031797 | IFT140 | c.3396C>T (p.Phe1132=) c.978C>T (p.Phe326=) c.*1834C>T (n.*1834C>T) n.3220C>T c.1029C>T (p.Phe343=) c.3150C>T (p.Phe1050=) c.2421C>T (p.Phe807=) c.1581C>T (p.Phe527=) | |
16 | g.1523575G>C | CA394225265 | IFT140 | c.3396C>G (p.Phe1132Leu) c.978C>G (p.Phe326Leu) c.*1834C>G (n.*1834C>G) n.3220C>G c.1029C>G (p.Phe343Leu) c.3150C>G (p.Phe1050Leu) c.2421C>G (p.Phe807Leu) c.1581C>G (p.Phe527Leu) | |
16 | g.1523575G>T | CA394225266 | IFT140 | c.3396C>A (p.Phe1132Leu) c.978C>A (p.Phe326Leu) c.*1834C>A (n.*1834C>A) n.3220C>A c.1029C>A (p.Phe343Leu) c.3150C>A (p.Phe1050Leu) c.2421C>A (p.Phe807Leu) c.1581C>A (p.Phe527Leu) | |
16 | g.1523576A>C | CA394225267 | IFT140 | c.3395T>G (p.Phe1132Cys) c.977T>G (p.Phe326Cys) c.*1833T>G (n.*1833T>G) n.3219T>G c.1028T>G (p.Phe343Cys) c.3149T>G (p.Phe1050Cys) c.2420T>G (p.Phe807Cys) c.1580T>G (p.Phe527Cys) | |
16 | g.1523576A>G | CA394225268 | IFT140 | c.3395T>C (p.Phe1132Ser) c.977T>C (p.Phe326Ser) c.*1833T>C (n.*1833T>C) n.3219T>C c.1028T>C (p.Phe343Ser) c.3149T>C (p.Phe1050Ser) c.2420T>C (p.Phe807Ser) c.1580T>C (p.Phe527Ser) | |
16 | g.1523576A>T | CA394225269 | IFT140 | c.3395T>A (p.Phe1132Tyr) c.977T>A (p.Phe326Tyr) c.*1833T>A (n.*1833T>A) n.3219T>A c.1028T>A (p.Phe343Tyr) c.3149T>A (p.Phe1050Tyr) c.2420T>A (p.Phe807Tyr) c.1580T>A (p.Phe527Tyr) | |
16 | g.1523577A>C | CA394225270 | IFT140 | c.3394T>G (p.Phe1132Val) c.976T>G (p.Phe326Val) c.*1832T>G (n.*1832T>G) n.3218T>G c.1027T>G (p.Phe343Val) c.3148T>G (p.Phe1050Val) c.2419T>G (p.Phe807Val) c.1579T>G (p.Phe527Val) | |
16 | g.1523577A>G | CA394225271 | IFT140 | c.3394T>C (p.Phe1132Leu) c.976T>C (p.Phe326Leu) c.*1832T>C (n.*1832T>C) n.3218T>C c.1027T>C (p.Phe343Leu) c.3148T>C (p.Phe1050Leu) c.2419T>C (p.Phe807Leu) c.1579T>C (p.Phe527Leu) | |
16 | g.1523577A>T | CA394225272 | IFT140 | c.3394T>A (p.Phe1132Ile) c.976T>A (p.Phe326Ile) c.*1832T>A (n.*1832T>A) n.3218T>A c.1027T>A (p.Phe343Ile) c.3148T>A (p.Phe1050Ile) c.2419T>A (p.Phe807Ile) c.1579T>A (p.Phe527Ile) | |
16 | g.1523578G>A | CA493031801 | IFT140 | c.3393C>T (p.Asp1131=) c.975C>T (p.Asp325=) c.*1831C>T (n.*1831C>T) n.3217C>T c.1026C>T (p.Asp342=) c.3147C>T (p.Asp1049=) c.2418C>T (p.Asp806=) c.1578C>T (p.Asp526=) | gnomAD v4 |
16 | g.1523578G>C | CA394225273 | IFT140 | c.3393C>G (p.Asp1131Glu) c.975C>G (p.Asp325Glu) c.*1831C>G (n.*1831C>G) n.3217C>G c.1026C>G (p.Asp342Glu) c.3147C>G (p.Asp1049Glu) c.2418C>G (p.Asp806Glu) c.1578C>G (p.Asp526Glu) | dbSNP |
16 | g.1523578G= | CA2201697790 | IFT140 | c.3393C= (p.Asp1131=) c.975C= (p.Asp325=) c.*1831C= (n.*1831C=) n.3217C= c.1026C= (p.Asp342=) c.3147C= (p.Asp1049=) c.2418C= (p.Asp806=) c.1578C= (p.Asp526=) | |
16 | g.1523578G>T | CA7813187 | IFT140 | c.3393C>A (p.Asp1131Glu) c.975C>A (p.Asp325Glu) c.*1831C>A (n.*1831C>A) n.3217C>A c.1026C>A (p.Asp342Glu) c.3147C>A (p.Asp1049Glu) c.2418C>A (p.Asp806Glu) c.1578C>A (p.Asp526Glu) | dbSNP ExAC gnomAD v2 |
16 | g.1523579T>A | CA394225276 | IFT140 | c.3392A>T (p.Asp1131Val) c.974A>T (p.Asp325Val) c.*1830A>T (n.*1830A>T) n.3216A>T c.1025A>T (p.Asp342Val) c.3146A>T (p.Asp1049Val) c.2417A>T (p.Asp806Val) c.1577A>T (p.Asp526Val) | |
16 | g.1523579T>C | CA394225275 | IFT140 | c.3392A>G (p.Asp1131Gly) c.974A>G (p.Asp325Gly) c.*1830A>G (n.*1830A>G) n.3216A>G c.1025A>G (p.Asp342Gly) c.3146A>G (p.Asp1049Gly) c.2417A>G (p.Asp806Gly) c.1577A>G (p.Asp526Gly) | |
16 | g.1523579T>G | CA394225274 | IFT140 | c.3392A>C (p.Asp1131Ala) c.974A>C (p.Asp325Ala) c.*1830A>C (n.*1830A>C) n.3216A>C c.1025A>C (p.Asp342Ala) c.3146A>C (p.Asp1049Ala) c.2417A>C (p.Asp806Ala) c.1577A>C (p.Asp526Ala) | |
16 | g.1523580C>A | CA394225278 | IFT140 | c.3391G>T (p.Asp1131Tyr) c.973G>T (p.Asp325Tyr) c.*1829G>T (n.*1829G>T) n.3215G>T c.1024G>T (p.Asp342Tyr) c.3145G>T (p.Asp1049Tyr) c.2416G>T (p.Asp806Tyr) c.1576G>T (p.Asp526Tyr) | gnomAD v4 |
16 | g.1523580C= | CA2201697791 | IFT140 | c.3391G= (p.Asp1131=) c.973G= (p.Asp325=) c.*1829G= (n.*1829G=) n.3215G= c.1024G= (p.Asp342=) c.3145G= (p.Asp1049=) c.2416G= (p.Asp806=) c.1576G= (p.Asp526=) | |
16 | g.1523580C>G | CA394225277 | IFT140 | c.3391G>C (p.Asp1131His) c.973G>C (p.Asp325His) c.*1829G>C (n.*1829G>C) n.3215G>C c.1024G>C (p.Asp342His) c.3145G>C (p.Asp1049His) c.2416G>C (p.Asp806His) c.1576G>C (p.Asp526His) | |
16 | g.1523580C>T | CA7813188 | IFT140 | c.3391G>A (p.Asp1131Asn) c.973G>A (p.Asp325Asn) c.*1829G>A (n.*1829G>A) n.3215G>A c.1024G>A (p.Asp342Asn) c.3145G>A (p.Asp1049Asn) c.2416G>A (p.Asp806Asn) c.1576G>A (p.Asp526Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1523581G>A | CA7813189 | IFT140 | c.3390C>T (p.Ser1130=) c.972C>T (p.Ser324=) c.*1828C>T (n.*1828C>T) n.3214C>T c.1023C>T (p.Ser341=) c.3144C>T (p.Ser1048=) c.2415C>T (p.Ser805=) c.1575C>T (p.Ser525=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1523581G>C | CA493031811 | IFT140 | c.3390C>G (p.Ser1130=) c.972C>G (p.Ser324=) c.*1828C>G (n.*1828C>G) n.3214C>G c.1023C>G (p.Ser341=) c.3144C>G (p.Ser1048=) c.2415C>G (p.Ser805=) c.1575C>G (p.Ser525=) | |
16 | g.1523581G= | CA2201697792 | IFT140 | c.3390C= (p.Ser1130=) c.972C= (p.Ser324=) c.*1828C= (n.*1828C=) n.3214C= c.1023C= (p.Ser341=) c.3144C= (p.Ser1048=) c.2415C= (p.Ser805=) c.1575C= (p.Ser525=) | |
16 | g.1523581G>T | CA493031813 | IFT140 | c.3390C>A (p.Ser1130=) c.972C>A (p.Ser324=) c.*1828C>A (n.*1828C>A) n.3214C>A c.1023C>A (p.Ser341=) c.3144C>A (p.Ser1048=) c.2415C>A (p.Ser805=) c.1575C>A (p.Ser525=) | |
16 | g.1523582G>A | CA394225279 | IFT140 | c.3389C>T (p.Ser1130Phe) c.971C>T (p.Ser324Phe) c.*1827C>T (n.*1827C>T) n.3213C>T c.1022C>T (p.Ser341Phe) c.3143C>T (p.Ser1048Phe) c.2414C>T (p.Ser805Phe) c.1574C>T (p.Ser525Phe) | |
16 | g.1523582G>C | CA7813190 | IFT140 | c.3389C>G (p.Ser1130Cys) c.971C>G (p.Ser324Cys) c.*1827C>G (n.*1827C>G) n.3213C>G c.1022C>G (p.Ser341Cys) c.3143C>G (p.Ser1048Cys) c.2414C>G (p.Ser805Cys) c.1574C>G (p.Ser525Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1523582G= | CA2201697793 | IFT140 | c.3389C= (p.Ser1130=) c.971C= (p.Ser324=) c.*1827C= (n.*1827C=) n.3213C= c.1022C= (p.Ser341=) c.3143C= (p.Ser1048=) c.2414C= (p.Ser805=) c.1574C= (p.Ser525=) | |
16 | g.1523582G>T | CA394225280 | IFT140 | c.3389C>A (p.Ser1130Tyr) c.971C>A (p.Ser324Tyr) c.*1827C>A (n.*1827C>A) n.3213C>A c.1022C>A (p.Ser341Tyr) c.3143C>A (p.Ser1048Tyr) c.2414C>A (p.Ser805Tyr) c.1574C>A (p.Ser525Tyr) | |
16 | g.1523583A>C | CA394225283 | IFT140 | c.3388T>G (p.Ser1130Ala) c.970T>G (p.Ser324Ala) c.*1826T>G (n.*1826T>G) n.3212T>G c.1021T>G (p.Ser341Ala) c.3142T>G (p.Ser1048Ala) c.2413T>G (p.Ser805Ala) c.1573T>G (p.Ser525Ala) | |
16 | g.1523583A>G | CA394225281 | IFT140 | c.3388T>C (p.Ser1130Pro) c.970T>C (p.Ser324Pro) c.*1826T>C (n.*1826T>C) n.3212T>C c.1021T>C (p.Ser341Pro) c.3142T>C (p.Ser1048Pro) c.2413T>C (p.Ser805Pro) c.1573T>C (p.Ser525Pro) | |
16 | g.1523583A>T | CA394225282 | IFT140 | c.3388T>A (p.Ser1130Thr) c.970T>A (p.Ser324Thr) c.*1826T>A (n.*1826T>A) n.3212T>A c.1021T>A (p.Ser341Thr) c.3142T>A (p.Ser1048Thr) c.2413T>A (p.Ser805Thr) c.1573T>A (p.Ser525Thr) | |
16 | g.1523584G>A | CA493031819 | IFT140 | c.3387C>T (p.Cys1129=) c.969C>T (p.Cys323=) c.*1825C>T (n.*1825C>T) n.3211C>T c.1020C>T (p.Cys340=) c.3141C>T (p.Cys1047=) c.2412C>T (p.Cys804=) c.1572C>T (p.Cys524=) | |
16 | g.1523584G>C | CA7813191 | IFT140 | c.3387C>G (p.Cys1129Trp) c.969C>G (p.Cys323Trp) c.*1825C>G (n.*1825C>G) n.3211C>G c.1020C>G (p.Cys340Trp) c.3141C>G (p.Cys1047Trp) c.2412C>G (p.Cys804Trp) c.1572C>G (p.Cys524Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1523584G= | CA2201697794 | IFT140 | c.3387C= (p.Cys1129=) c.969C= (p.Cys323=) c.*1825C= (n.*1825C=) n.3211C= c.1020C= (p.Cys340=) c.3141C= (p.Cys1047=) c.2412C= (p.Cys804=) c.1572C= (p.Cys524=) | |
16 | g.1523584G>T | CA394225284 | IFT140 | c.3387C>A (p.Cys1129Ter) c.969C>A (p.Cys323Ter) c.*1825C>A (n.*1825C>A) n.3211C>A c.1020C>A (p.Cys340Ter) c.3141C>A (p.Cys1047Ter) c.2412C>A (p.Cys804Ter) c.1572C>A (p.Cys524Ter) | |
16 | g.1523585C>A | CA394225285 | IFT140 | c.3386G>T (p.Cys1129Phe) c.968G>T (p.Cys323Phe) c.*1824G>T (n.*1824G>T) n.3210G>T c.1019G>T (p.Cys340Phe) c.3140G>T (p.Cys1047Phe) c.2411G>T (p.Cys804Phe) c.1571G>T (p.Cys524Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1523585C= | CA2201697795 | IFT140 | c.3386G= (p.Cys1129=) c.968G= (p.Cys323=) c.*1824G= (n.*1824G=) n.3210G= c.1019G= (p.Cys340=) c.3140G= (p.Cys1047=) c.2411G= (p.Cys804=) c.1571G= (p.Cys524=) | |
16 | g.1523585C>G | CA394225286 | IFT140 | c.3386G>C (p.Cys1129Ser) c.968G>C (p.Cys323Ser) c.*1824G>C (n.*1824G>C) n.3210G>C c.1019G>C (p.Cys340Ser) c.3140G>C (p.Cys1047Ser) c.2411G>C (p.Cys804Ser) c.1571G>C (p.Cys524Ser) | |
16 | g.1523585C>T | CA394225287 | IFT140 | c.3386G>A (p.Cys1129Tyr) c.968G>A (p.Cys323Tyr) c.*1824G>A (n.*1824G>A) n.3210G>A c.1019G>A (p.Cys340Tyr) c.3140G>A (p.Cys1047Tyr) c.2411G>A (p.Cys804Tyr) c.1571G>A (p.Cys524Tyr) | dbSNP |
16 | g.1523586A= | CA2201697796 | IFT140 | c.3385T= (p.Cys1129=) c.967T= (p.Cys323=) c.*1823T= (n.*1823T=) n.3209T= c.1018T= (p.Cys340=) c.3139T= (p.Cys1047=) c.2410T= (p.Cys804=) c.1570T= (p.Cys524=) | |
16 | g.1523586A>C | CA394225288 | IFT140 | c.3385T>G (p.Cys1129Gly) c.967T>G (p.Cys323Gly) c.*1823T>G (n.*1823T>G) n.3209T>G c.1018T>G (p.Cys340Gly) c.3139T>G (p.Cys1047Gly) c.2410T>G (p.Cys804Gly) c.1570T>G (p.Cys524Gly) | |
16 | g.1523586A>G | CA10637181 | IFT140 | c.3385T>C (p.Cys1129Arg) c.967T>C (p.Cys323Arg) c.*1823T>C (n.*1823T>C) n.3209T>C c.1018T>C (p.Cys340Arg) c.3139T>C (p.Cys1047Arg) c.2410T>C (p.Cys804Arg) c.1570T>C (p.Cys524Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.1523586A>T | CA394225289 | IFT140 | c.3385T>A (p.Cys1129Ser) c.967T>A (p.Cys323Ser) c.*1823T>A (n.*1823T>A) n.3209T>A c.1018T>A (p.Cys340Ser) c.3139T>A (p.Cys1047Ser) c.2410T>A (p.Cys804Ser) c.1570T>A (p.Cys524Ser) | |
16 | g.1523586_1523587insCACT | CA620700904 | IFT140 | c.3384_3385insAGTG (p.Cys1129SerfsTer?) c.966_967insAGTG (p.Cys323SerfsTer?) c.*1822_*1823insAGTG (n.*1822_*1823insAGTG) n.3208_3209insAGTG c.1017_1018insAGTG (p.Cys340SerfsTer?) c.3138_3139insAGTG (p.Cys1047SerfsTer?) c.2409_2410insAGTG (p.Cys804SerfsTer?) c.1569_1570insAGTG (p.Cys524SerfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1523587G>A | CA493031823 | IFT140 | c.3384C>T (p.Arg1128=) c.966C>T (p.Arg322=) c.*1822C>T (n.*1822C>T) n.3208C>T c.1017C>T (p.Arg339=) c.3138C>T (p.Arg1046=) c.2409C>T (p.Arg803=) c.1569C>T (p.Arg523=) | dbSNP gnomAD v4 |
16 | g.1523587G>C | CA493031824 | IFT140 | c.3384C>G (p.Arg1128=) c.966C>G (p.Arg322=) c.*1822C>G (n.*1822C>G) n.3208C>G c.1017C>G (p.Arg339=) c.3138C>G (p.Arg1046=) c.2409C>G (p.Arg803=) c.1569C>G (p.Arg523=) | |
16 | g.1523587G= | CA2201697797 | IFT140 | c.3384C= (p.Arg1128=) c.966C= (p.Arg322=) c.*1822C= (n.*1822C=) n.3208C= c.1017C= (p.Arg339=) c.3138C= (p.Arg1046=) c.2409C= (p.Arg803=) c.1569C= (p.Arg523=) | |
16 | g.1523587G>T | CA493031825 | IFT140 | c.3384C>A (p.Arg1128=) c.966C>A (p.Arg322=) c.*1822C>A (n.*1822C>A) n.3208C>A c.1017C>A (p.Arg339=) c.3138C>A (p.Arg1046=) c.2409C>A (p.Arg803=) c.1569C>A (p.Arg523=) | |
16 | g.1523587_1523588insACTGTGCTCCGAAGAAGT | CA620700905 | IFT140 | c.3383_3384insACTTCTTCGGAGCACAGT (p.Arg1128_Cys1129insLeuLeuArgSerThrVal) c.965_966insACTTCTTCGGAGCACAGT (p.Arg322_Cys323insLeuLeuArgSerThrVal) c.*1821_*1822insACTTCTTCGGAGCACAGT (n.*1821_*1822insACTTCTTCGGAGCACAGT) n.3207_3208insACTTCTTCGGAGCACAGT c.1016_1017insACTTCTTCGGAGCACAGT (p.Arg339_Cys340insLeuLeuArgSerThrVal) c.3137_3138insACTTCTTCGGAGCACAGT (p.Arg1046_Cys1047insLeuLeuArgSerThrVal) c.2408_2409insACTTCTTCGGAGCACAGT (p.Arg803_Cys804insLeuLeuArgSerThrVal) c.1568_1569insACTTCTTCGGAGCACAGT (p.Arg523_Cys524insLeuLeuArgSerThrVal) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1523588C>A | CA276677539 | IFT140 | c.3383G>T (p.Arg1128Leu) c.965G>T (p.Arg322Leu) c.*1821G>T (n.*1821G>T) n.3207G>T c.1016G>T (p.Arg339Leu) c.3137G>T (p.Arg1046Leu) c.2408G>T (p.Arg803Leu) c.1568G>T (p.Arg523Leu) | dbSNP |
16 | g.1523588C= | CA2201697798 | IFT140 | c.3383G= (p.Arg1128=) c.965G= (p.Arg322=) c.*1821G= (n.*1821G=) n.3207G= c.1016G= (p.Arg339=) c.3137G= (p.Arg1046=) c.2408G= (p.Arg803=) c.1568G= (p.Arg523=) | |
16 | g.1523588C>G | CA394225290 | IFT140 | c.3383G>C (p.Arg1128Pro) c.965G>C (p.Arg322Pro) c.*1821G>C (n.*1821G>C) n.3207G>C c.1016G>C (p.Arg339Pro) c.3137G>C (p.Arg1046Pro) c.2408G>C (p.Arg803Pro) c.1568G>C (p.Arg523Pro) | |
16 | g.1523588C>T | CA7813192 | IFT140 | c.3383G>A (p.Arg1128His) c.965G>A (p.Arg322His) c.*1821G>A (n.*1821G>A) n.3207G>A c.1016G>A (p.Arg339His) c.3137G>A (p.Arg1046His) c.2408G>A (p.Arg803His) c.1568G>A (p.Arg523His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1523589G>A | CA7813193 | IFT140 | c.3382C>T (p.Arg1128Cys) c.964C>T (p.Arg322Cys) c.*1820C>T (n.*1820C>T) n.3206C>T c.1015C>T (p.Arg339Cys) c.3136C>T (p.Arg1046Cys) c.2407C>T (p.Arg803Cys) c.1567C>T (p.Arg523Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1523589G>C | CA394225291 | IFT140 | c.3382C>G (p.Arg1128Gly) c.964C>G (p.Arg322Gly) c.*1820C>G (n.*1820C>G) n.3206C>G c.1015C>G (p.Arg339Gly) c.3136C>G (p.Arg1046Gly) c.2407C>G (p.Arg803Gly) c.1567C>G (p.Arg523Gly) | |
16 | g.1523589G= | CA2201697799 | IFT140 | c.3382C= (p.Arg1128=) c.964C= (p.Arg322=) c.*1820C= (n.*1820C=) n.3206C= c.1015C= (p.Arg339=) c.3136C= (p.Arg1046=) c.2407C= (p.Arg803=) c.1567C= (p.Arg523=) | |
16 | g.1523589G>T | CA394225292 | IFT140 | c.3382C>A (p.Arg1128Ser) c.964C>A (p.Arg322Ser) c.*1820C>A (n.*1820C>A) n.3206C>A c.1015C>A (p.Arg339Ser) c.3136C>A (p.Arg1046Ser) c.2407C>A (p.Arg803Ser) c.1567C>A (p.Arg523Ser) | |
16 | g.1523590G>A | CA493031831 | IFT140 | c.3381C>T (p.Ala1127=) c.963C>T (p.Ala321=) c.*1819C>T (n.*1819C>T) n.3205C>T c.1014C>T (p.Ala338=) c.3135C>T (p.Ala1045=) c.2406C>T (p.Ala802=) c.1566C>T (p.Ala522=) | |
16 | g.1523590G>C | CA493031834 | IFT140 | c.3381C>G (p.Ala1127=) c.963C>G (p.Ala321=) c.*1819C>G (n.*1819C>G) n.3205C>G c.1014C>G (p.Ala338=) c.3135C>G (p.Ala1045=) c.2406C>G (p.Ala802=) c.1566C>G (p.Ala522=) | ClinVar |
16 | g.1523590G>T | CA493031837 | IFT140 | c.3381C>A (p.Ala1127=) c.963C>A (p.Ala321=) c.*1819C>A (n.*1819C>A) n.3205C>A c.1014C>A (p.Ala338=) c.3135C>A (p.Ala1045=) c.2406C>A (p.Ala802=) c.1566C>A (p.Ala522=) | |
16 | g.1523590_1523593delinsGGCC | CA2201697800 | IFT140 | c.3378_3381delinsGGCC (p.Leu1126=) c.960_963delinsGGCC (p.Leu320=) c.*1816_*1819delinsGGCC (n.*1816_*1819delinsGGCC) n.3202_3205delinsGGCC c.1011_1014delinsGGCC (p.Leu337=) c.3132_3135delinsGGCC (p.Leu1044=) c.2403_2406delinsGGCC (p.Leu801=) c.1563_1566delinsGGCC (p.Leu521=) | |
16 | g.1523591G>A | CA394225293 | IFT140 | c.3380C>T (p.Ala1127Val) c.962C>T (p.Ala321Val) c.*1818C>T (n.*1818C>T) n.3204C>T c.1013C>T (p.Ala338Val) c.3134C>T (p.Ala1045Val) c.2405C>T (p.Ala802Val) c.1565C>T (p.Ala522Val) | |
16 | g.1523591G>C | CA394225294 | IFT140 | c.3380C>G (p.Ala1127Gly) c.962C>G (p.Ala321Gly) c.*1818C>G (n.*1818C>G) n.3204C>G c.1013C>G (p.Ala338Gly) c.3134C>G (p.Ala1045Gly) c.2405C>G (p.Ala802Gly) c.1565C>G (p.Ala522Gly) | |
16 | g.1523591G>T | CA394225295 | IFT140 | c.3380C>A (p.Ala1127Asp) c.962C>A (p.Ala321Asp) c.*1818C>A (n.*1818C>A) n.3204C>A c.1013C>A (p.Ala338Asp) c.3134C>A (p.Ala1045Asp) c.2405C>A (p.Ala802Asp) c.1565C>A (p.Ala522Asp) | |
16 | g.1523591_1523593del | CA620700908 | IFT140 | c.3378_3380del (p.Ala1127del) c.960_962del (p.Ala321del) c.*1816_*1818del (n.*1816_*1818del) n.3202_3204del c.1011_1013del (p.Ala338del) c.3132_3134del (p.Ala1045del) c.2403_2405del (p.Ala802del) c.1563_1565del (p.Ala522del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1523592C>A | CA394225296 | IFT140 | c.3379G>T (p.Ala1127Ser) c.961G>T (p.Ala321Ser) c.*1817G>T (n.*1817G>T) n.3203G>T c.1012G>T (p.Ala338Ser) c.3133G>T (p.Ala1045Ser) c.2404G>T (p.Ala802Ser) c.1564G>T (p.Ala522Ser) | |
16 | g.1523592C>G | CA394225297 | IFT140 | c.3379G>C (p.Ala1127Pro) c.961G>C (p.Ala321Pro) c.*1817G>C (n.*1817G>C) n.3203G>C c.1012G>C (p.Ala338Pro) c.3133G>C (p.Ala1045Pro) c.2404G>C (p.Ala802Pro) c.1564G>C (p.Ala522Pro) | |
16 | g.1523592C>T | CA394225298 | IFT140 | c.3379G>A (p.Ala1127Thr) c.961G>A (p.Ala321Thr) c.*1817G>A (n.*1817G>A) n.3203G>A c.1012G>A (p.Ala338Thr) c.3133G>A (p.Ala1045Thr) c.2404G>A (p.Ala802Thr) c.1564G>A (p.Ala522Thr) | ClinVar gnomAD v4 |
16 | g.1523593C>A | CA493031843 | IFT140 | c.3378G>T (p.Leu1126=) c.960G>T (p.Leu320=) c.*1816G>T (n.*1816G>T) n.3202G>T c.1011G>T (p.Leu337=) c.3132G>T (p.Leu1044=) c.2403G>T (p.Leu801=) c.1563G>T (p.Leu521=) | |
16 | g.1523593C>G | CA493031845 | IFT140 | c.3378G>C (p.Leu1126=) c.960G>C (p.Leu320=) c.*1816G>C (n.*1816G>C) n.3202G>C c.1011G>C (p.Leu337=) c.3132G>C (p.Leu1044=) c.2403G>C (p.Leu801=) c.1563G>C (p.Leu521=) | |
16 | g.1523593C>T | CA493031846 | IFT140 | c.3378G>A (p.Leu1126=) c.960G>A (p.Leu320=) c.*1816G>A (n.*1816G>A) n.3202G>A c.1011G>A (p.Leu337=) c.3132G>A (p.Leu1044=) c.2403G>A (p.Leu801=) c.1563G>A (p.Leu521=) | |
16 | g.1523594A= | CA2201697801 | IFT140 | c.3377T= (p.Leu1126=) c.959T= (p.Leu320=) c.*1815T= (n.*1815T=) n.3201T= c.1010T= (p.Leu337=) c.3131T= (p.Leu1044=) c.2402T= (p.Leu801=) c.1562T= (p.Leu521=) | |
16 | g.1523594A>C | CA394225300 | IFT140 | c.3377T>G (p.Leu1126Arg) c.959T>G (p.Leu320Arg) c.*1815T>G (n.*1815T>G) n.3201T>G c.1010T>G (p.Leu337Arg) c.3131T>G (p.Leu1044Arg) c.2402T>G (p.Leu801Arg) c.1562T>G (p.Leu521Arg) | |
16 | g.1523594A>G | CA394225301 | IFT140 | c.3377T>C (p.Leu1126Pro) c.959T>C (p.Leu320Pro) c.*1815T>C (n.*1815T>C) n.3201T>C c.1010T>C (p.Leu337Pro) c.3131T>C (p.Leu1044Pro) c.2402T>C (p.Leu801Pro) c.1562T>C (p.Leu521Pro) | ClinVar dbSNP |
16 | g.1523594A>T | CA394225299 | IFT140 | c.3377T>A (p.Leu1126Gln) c.959T>A (p.Leu320Gln) c.*1815T>A (n.*1815T>A) n.3201T>A c.1010T>A (p.Leu337Gln) c.3131T>A (p.Leu1044Gln) c.2402T>A (p.Leu801Gln) c.1562T>A (p.Leu521Gln) | |
16 | g.1523595G>A | CA493031850 | IFT140 | c.3376C>T (p.Leu1126=) c.958C>T (p.Leu320=) c.*1814C>T (n.*1814C>T) n.3200C>T c.1009C>T (p.Leu337=) c.3130C>T (p.Leu1044=) c.2401C>T (p.Leu801=) c.1561C>T (p.Leu521=) | |
16 | g.1523595G>C | CA394225302 | IFT140 | c.3376C>G (p.Leu1126Val) c.958C>G (p.Leu320Val) c.*1814C>G (n.*1814C>G) n.3200C>G c.1009C>G (p.Leu337Val) c.3130C>G (p.Leu1044Val) c.2401C>G (p.Leu801Val) c.1561C>G (p.Leu521Val) | |
16 | g.1523595G>T | CA394225303 | IFT140 | c.3376C>A (p.Leu1126Met) c.958C>A (p.Leu320Met) c.*1814C>A (n.*1814C>A) n.3200C>A c.1009C>A (p.Leu337Met) c.3130C>A (p.Leu1044Met) c.2401C>A (p.Leu801Met) c.1561C>A (p.Leu521Met) | |
16 | g.1523596G>A | CA493031851 | IFT140 | c.3375C>T (p.Leu1125=) c.957C>T (p.Leu319=) c.*1813C>T (n.*1813C>T) n.3199C>T c.1008C>T (p.Leu336=) c.3129C>T (p.Leu1043=) c.2400C>T (p.Leu800=) c.1560C>T (p.Leu520=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.1523596G>C | CA493031853 | IFT140 | c.3375C>G (p.Leu1125=) c.957C>G (p.Leu319=) c.*1813C>G (n.*1813C>G) n.3199C>G c.1008C>G (p.Leu336=) c.3129C>G (p.Leu1043=) c.2400C>G (p.Leu800=) c.1560C>G (p.Leu520=) | dbSNP gnomAD v2 |
16 | g.1523596G= | CA2201697802 | IFT140 | c.3375C= (p.Leu1125=) c.957C= (p.Leu319=) c.*1813C= (n.*1813C=) n.3199C= c.1008C= (p.Leu336=) c.3129C= (p.Leu1043=) c.2400C= (p.Leu800=) c.1560C= (p.Leu520=) | |
16 | g.1523596G>T | CA493031854 | IFT140 | c.3375C>A (p.Leu1125=) c.957C>A (p.Leu319=) c.*1813C>A (n.*1813C>A) n.3199C>A c.1008C>A (p.Leu336=) c.3129C>A (p.Leu1043=) c.2400C>A (p.Leu800=) c.1560C>A (p.Leu520=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.1523597A>C | CA394225304 | IFT140 | c.3374T>G (p.Leu1125Arg) c.956T>G (p.Leu319Arg) c.*1812T>G (n.*1812T>G) n.3198T>G c.1007T>G (p.Leu336Arg) c.3128T>G (p.Leu1043Arg) c.2399T>G (p.Leu800Arg) c.1559T>G (p.Leu520Arg) | |
16 | g.1523597A>G | CA394225305 | IFT140 | c.3374T>C (p.Leu1125Pro) c.956T>C (p.Leu319Pro) c.*1812T>C (n.*1812T>C) n.3198T>C c.1007T>C (p.Leu336Pro) c.3128T>C (p.Leu1043Pro) c.2399T>C (p.Leu800Pro) c.1559T>C (p.Leu520Pro) | gnomAD v4 |
16 | g.1523597A>T | CA394225306 | IFT140 | c.3374T>A (p.Leu1125His) c.956T>A (p.Leu319His) c.*1812T>A (n.*1812T>A) n.3198T>A c.1007T>A (p.Leu336His) c.3128T>A (p.Leu1043His) c.2399T>A (p.Leu800His) c.1559T>A (p.Leu520His) | |
16 | g.1523598G>A | CA394225307 | IFT140 | c.3373C>T (p.Leu1125Phe) c.955C>T (p.Leu319Phe) c.*1811C>T (n.*1811C>T) n.3197C>T c.1006C>T (p.Leu336Phe) c.3127C>T (p.Leu1043Phe) c.2398C>T (p.Leu800Phe) c.1558C>T (p.Leu520Phe) | ClinVar dbSNP |
16 | g.1523598G>C | CA394225308 | IFT140 | c.3373C>G (p.Leu1125Val) c.955C>G (p.Leu319Val) c.*1811C>G (n.*1811C>G) n.3197C>G c.1006C>G (p.Leu336Val) c.3127C>G (p.Leu1043Val) c.2398C>G (p.Leu800Val) c.1558C>G (p.Leu520Val) | |
16 | g.1523598G= | CA2201697803 | IFT140 | c.3373C= (p.Leu1125=) c.955C= (p.Leu319=) c.*1811C= (n.*1811C=) n.3197C= c.1006C= (p.Leu336=) c.3127C= (p.Leu1043=) c.2398C= (p.Leu800=) c.1558C= (p.Leu520=) | |
16 | g.1523598G>T | CA394225309 | IFT140 | c.3373C>A (p.Leu1125Ile) c.955C>A (p.Leu319Ile) c.*1811C>A (n.*1811C>A) n.3197C>A c.1006C>A (p.Leu336Ile) c.3127C>A (p.Leu1043Ile) c.2398C>A (p.Leu800Ile) c.1558C>A (p.Leu520Ile) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.1523599C>A | CA493031857 | IFT140 | c.3372G>T (p.Ala1124=) c.954G>T (p.Ala318=) c.*1810G>T (n.*1810G>T) n.3196G>T c.1005G>T (p.Ala335=) c.3126G>T (p.Ala1042=) c.2397G>T (p.Ala799=) c.1557G>T (p.Ala519=) | dbSNP gnomAD v4 |
16 | g.1523599C= | CA2201697804 | IFT140 | c.3372G= (p.Ala1124=) c.954G= (p.Ala318=) c.*1810G= (n.*1810G=) n.3196G= c.1005G= (p.Ala335=) c.3126G= (p.Ala1042=) c.2397G= (p.Ala799=) c.1557G= (p.Ala519=) | |
16 | g.1523599C>G | CA493031860 | IFT140 | c.3372G>C (p.Ala1124=) c.954G>C (p.Ala318=) c.*1810G>C (n.*1810G>C) n.3196G>C c.1005G>C (p.Ala335=) c.3126G>C (p.Ala1042=) c.2397G>C (p.Ala799=) c.1557G>C (p.Ala519=) | |
16 | g.1523599C>T | CA493031862 | IFT140 | c.3372G>A (p.Ala1124=) c.954G>A (p.Ala318=) c.*1810G>A (n.*1810G>A) n.3196G>A c.1005G>A (p.Ala335=) c.3126G>A (p.Ala1042=) c.2397G>A (p.Ala799=) c.1557G>A (p.Ala519=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1523600G>A | CA276677553 | IFT140 | c.3371C>T (p.Ala1124Val) c.953C>T (p.Ala318Val) c.*1809C>T (n.*1809C>T) n.3195C>T c.1004C>T (p.Ala335Val) c.3125C>T (p.Ala1042Val) c.2396C>T (p.Ala799Val) c.1556C>T (p.Ala519Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1523600G>C | CA394225310 | IFT140 | c.3371C>G (p.Ala1124Gly) c.953C>G (p.Ala318Gly) c.*1809C>G (n.*1809C>G) n.3195C>G c.1004C>G (p.Ala335Gly) c.3125C>G (p.Ala1042Gly) c.2396C>G (p.Ala799Gly) c.1556C>G (p.Ala519Gly) | gnomAD v4 |
16 | g.1523600G= | CA2201697805 | IFT140 | c.3371C= (p.Ala1124=) c.953C= (p.Ala318=) c.*1809C= (n.*1809C=) n.3195C= c.1004C= (p.Ala335=) c.3125C= (p.Ala1042=) c.2396C= (p.Ala799=) c.1556C= (p.Ala519=) | |
16 | g.1523600G>T | CA394225311 | IFT140 | c.3371C>A (p.Ala1124Glu) c.953C>A (p.Ala318Glu) c.*1809C>A (n.*1809C>A) n.3195C>A c.1004C>A (p.Ala335Glu) c.3125C>A (p.Ala1042Glu) c.2396C>A (p.Ala799Glu) c.1556C>A (p.Ala519Glu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1523601C>A | CA394225312 | IFT140 | c.3370G>T (p.Ala1124Ser) c.952G>T (p.Ala318Ser) c.*1808G>T (n.*1808G>T) n.3194G>T c.1003G>T (p.Ala335Ser) c.3124G>T (p.Ala1042Ser) c.2395G>T (p.Ala799Ser) c.1555G>T (p.Ala519Ser) | |
16 | g.1523601C>G | CA394225313 | IFT140 | c.3370G>C (p.Ala1124Pro) c.952G>C (p.Ala318Pro) c.*1808G>C (n.*1808G>C) n.3194G>C c.1003G>C (p.Ala335Pro) c.3124G>C (p.Ala1042Pro) c.2395G>C (p.Ala799Pro) c.1555G>C (p.Ala519Pro) | |
16 | g.1523601C>T | CA394225314 | IFT140 | c.3370G>A (p.Ala1124Thr) c.952G>A (p.Ala318Thr) c.*1808G>A (n.*1808G>A) n.3194G>A c.1003G>A (p.Ala335Thr) c.3124G>A (p.Ala1042Thr) c.2395G>A (p.Ala799Thr) c.1555G>A (p.Ala519Thr) | gnomAD v4 |
16 | g.1523602A= | CA2201697806 | IFT140 | c.3369T= (p.Pro1123=) c.951T= (p.Pro317=) c.*1807T= (n.*1807T=) n.3193T= c.1002T= (p.Pro334=) c.3123T= (p.Pro1041=) c.2394T= (p.Pro798=) c.1554T= (p.Pro518=) | |
16 | g.1523602A>C | CA493031867 | IFT140 | c.3369T>G (p.Pro1123=) c.951T>G (p.Pro317=) c.*1807T>G (n.*1807T>G) n.3193T>G c.1002T>G (p.Pro334=) c.3123T>G (p.Pro1041=) c.2394T>G (p.Pro798=) c.1554T>G (p.Pro518=) | gnomAD v4 |
16 | g.1523602A>G | CA7813194 | IFT140 | c.3369T>C (p.Pro1123=) c.951T>C (p.Pro317=) c.*1807T>C (n.*1807T>C) n.3193T>C c.1002T>C (p.Pro334=) c.3123T>C (p.Pro1041=) c.2394T>C (p.Pro798=) c.1554T>C (p.Pro518=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1523602A>T | CA493031869 | IFT140 | c.3369T>A (p.Pro1123=) c.951T>A (p.Pro317=) c.*1807T>A (n.*1807T>A) n.3193T>A c.1002T>A (p.Pro334=) c.3123T>A (p.Pro1041=) c.2394T>A (p.Pro798=) c.1554T>A (p.Pro518=) | |
16 | g.1523603G>A | CA7813195 | IFT140 | c.3368C>T (p.Pro1123Leu) c.950C>T (p.Pro317Leu) c.*1806C>T (n.*1806C>T) n.3192C>T c.1001C>T (p.Pro334Leu) c.3122C>T (p.Pro1041Leu) c.2393C>T (p.Pro798Leu) c.1553C>T (p.Pro518Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.1523603G>C | CA394225315 | IFT140 | c.3368C>G (p.Pro1123Arg) c.950C>G (p.Pro317Arg) c.*1806C>G (n.*1806C>G) n.3192C>G c.1001C>G (p.Pro334Arg) c.3122C>G (p.Pro1041Arg) c.2393C>G (p.Pro798Arg) c.1553C>G (p.Pro518Arg) | |
16 | g.1523603G= | CA2201697807 | IFT140 | c.3368C= (p.Pro1123=) c.950C= (p.Pro317=) c.*1806C= (n.*1806C=) n.3192C= c.1001C= (p.Pro334=) c.3122C= (p.Pro1041=) c.2393C= (p.Pro798=) c.1553C= (p.Pro518=) | |
16 | g.1523603G>T | CA394225316 | IFT140 | c.3368C>A (p.Pro1123His) c.950C>A (p.Pro317His) c.*1806C>A (n.*1806C>A) n.3192C>A c.1001C>A (p.Pro334His) c.3122C>A (p.Pro1041His) c.2393C>A (p.Pro798His) c.1553C>A (p.Pro518His) | |
16 | g.1523604G>A | CA394225317 | IFT140 | c.3367C>T (p.Pro1123Ser) c.949C>T (p.Pro317Ser) c.*1805C>T (n.*1805C>T) n.3191C>T c.1000C>T (p.Pro334Ser) c.3121C>T (p.Pro1041Ser) c.2392C>T (p.Pro798Ser) c.1552C>T (p.Pro518Ser) | |
16 | g.1523604G>C | CA394225318 | IFT140 | c.3367C>G (p.Pro1123Ala) c.949C>G (p.Pro317Ala) c.*1805C>G (n.*1805C>G) n.3191C>G c.1000C>G (p.Pro334Ala) c.3121C>G (p.Pro1041Ala) c.2392C>G (p.Pro798Ala) c.1552C>G (p.Pro518Ala) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.1523604G>T | CA394225319 | IFT140 | c.3367C>A (p.Pro1123Thr) c.949C>A (p.Pro317Thr) c.*1805C>A (n.*1805C>A) n.3191C>A c.1000C>A (p.Pro334Thr) c.3121C>A (p.Pro1041Thr) c.2392C>A (p.Pro798Thr) c.1552C>A (p.Pro518Thr) | |
16 | g.1523605G>A | CA493031873 | IFT140 | c.3366C>T (p.Asp1122=) c.948C>T (p.Asp316=) c.*1804C>T (n.*1804C>T) n.3190C>T c.999C>T (p.Asp333=) c.3120C>T (p.Asp1040=) c.2391C>T (p.Asp797=) c.1551C>T (p.Asp517=) | |
16 | g.1523605G>C | CA394225320 | IFT140 | c.3366C>G (p.Asp1122Glu) c.948C>G (p.Asp316Glu) c.*1804C>G (n.*1804C>G) n.3190C>G c.999C>G (p.Asp333Glu) c.3120C>G (p.Asp1040Glu) c.2391C>G (p.Asp797Glu) c.1551C>G (p.Asp517Glu) | |
16 | g.1523605G>T | CA394225321 | IFT140 | c.3366C>A (p.Asp1122Glu) c.948C>A (p.Asp316Glu) c.*1804C>A (n.*1804C>A) n.3190C>A c.999C>A (p.Asp333Glu) c.3120C>A (p.Asp1040Glu) c.2391C>A (p.Asp797Glu) c.1551C>A (p.Asp517Glu) | |
16 | g.1523606T>A | CA394225322 | IFT140 | c.3365A>T (p.Asp1122Val) c.947A>T (p.Asp316Val) c.*1803A>T (n.*1803A>T) n.3189A>T c.998A>T (p.Asp333Val) c.3119A>T (p.Asp1040Val) c.2390A>T (p.Asp797Val) c.1550A>T (p.Asp517Val) | |
16 | g.1523606T>C | CA394225323 | IFT140 | c.3365A>G (p.Asp1122Gly) c.947A>G (p.Asp316Gly) c.*1803A>G (n.*1803A>G) n.3189A>G c.998A>G (p.Asp333Gly) c.3119A>G (p.Asp1040Gly) c.2390A>G (p.Asp797Gly) c.1550A>G (p.Asp517Gly) | |
16 | g.1523606T>G | CA394225324 | IFT140 | c.3365A>C (p.Asp1122Ala) c.947A>C (p.Asp316Ala) c.*1803A>C (n.*1803A>C) n.3189A>C c.998A>C (p.Asp333Ala) c.3119A>C (p.Asp1040Ala) c.2390A>C (p.Asp797Ala) c.1550A>C (p.Asp517Ala) | |
16 | g.1523607C>A | CA394225325 | IFT140 | c.3364G>T (p.Asp1122Tyr) c.946G>T (p.Asp316Tyr) c.*1802G>T (n.*1802G>T) n.3188G>T c.997G>T (p.Asp333Tyr) c.3118G>T (p.Asp1040Tyr) c.2389G>T (p.Asp797Tyr) c.1549G>T (p.Asp517Tyr) | |
16 | g.1523607C>G | CA394225326 | IFT140 | c.3364G>C (p.Asp1122His) c.946G>C (p.Asp316His) c.*1802G>C (n.*1802G>C) n.3188G>C c.997G>C (p.Asp333His) c.3118G>C (p.Asp1040His) c.2389G>C (p.Asp797His) c.1549G>C (p.Asp517His) | |
16 | g.1523607C>T | CA394225327 | IFT140 | c.3364G>A (p.Asp1122Asn) c.946G>A (p.Asp316Asn) c.*1802G>A (n.*1802G>A) n.3188G>A c.997G>A (p.Asp333Asn) c.3118G>A (p.Asp1040Asn) c.2389G>A (p.Asp797Asn) c.1549G>A (p.Asp517Asn) | ClinVar |
16 | g.1523608T>A | CA493031882 | IFT140 | c.3363A>T (p.Ser1121=) c.945A>T (p.Ser315=) c.*1801A>T (n.*1801A>T) n.3187A>T c.996A>T (p.Ser332=) c.3117A>T (p.Ser1039=) c.2388A>T (p.Ser796=) c.1548A>T (p.Ser516=) | |
16 | g.1523608T>C | CA493031884 | IFT140 | c.3363A>G (p.Ser1121=) c.945A>G (p.Ser315=) c.*1801A>G (n.*1801A>G) n.3187A>G c.996A>G (p.Ser332=) c.3117A>G (p.Ser1039=) c.2388A>G (p.Ser796=) c.1548A>G (p.Ser516=) | gnomAD v4 |
16 | g.1523608T>G | CA493031887 | IFT140 | c.3363A>C (p.Ser1121=) c.945A>C (p.Ser315=) c.*1801A>C (n.*1801A>C) n.3187A>C c.996A>C (p.Ser332=) c.3117A>C (p.Ser1039=) c.2388A>C (p.Ser796=) c.1548A>C (p.Ser516=) | |
16 | g.1523609G>A | CA394225330 | IFT140 | c.3362C>T (p.Ser1121Leu) c.944C>T (p.Ser315Leu) c.*1800C>T (n.*1800C>T) n.3186C>T c.995C>T (p.Ser332Leu) c.3116C>T (p.Ser1039Leu) c.2387C>T (p.Ser796Leu) c.1547C>T (p.Ser516Leu) | |
16 | g.1523609G>C | CA394225329 | IFT140 | c.3362C>G (p.Ser1121Ter) c.944C>G (p.Ser315Ter) c.*1800C>G (n.*1800C>G) n.3186C>G c.995C>G (p.Ser332Ter) c.3116C>G (p.Ser1039Ter) c.2387C>G (p.Ser796Ter) c.1547C>G (p.Ser516Ter) | |
16 | g.1523609G>T | CA394225328 | IFT140 | c.3362C>A (p.Ser1121Ter) c.944C>A (p.Ser315Ter) c.*1800C>A (n.*1800C>A) n.3186C>A c.995C>A (p.Ser332Ter) c.3116C>A (p.Ser1039Ter) c.2387C>A (p.Ser796Ter) c.1547C>A (p.Ser516Ter) | |
16 | g.1523610A>C | CA394225331 | IFT140 | c.3361T>G (p.Ser1121Ala) c.943T>G (p.Ser315Ala) c.*1799T>G (n.*1799T>G) n.3185T>G c.994T>G (p.Ser332Ala) c.3115T>G (p.Ser1039Ala) c.2386T>G (p.Ser796Ala) c.1546T>G (p.Ser516Ala) | |
16 | g.1523610A>G | CA394225332 | IFT140 | c.3361T>C (p.Ser1121Pro) c.943T>C (p.Ser315Pro) c.*1799T>C (n.*1799T>C) n.3185T>C c.994T>C (p.Ser332Pro) c.3115T>C (p.Ser1039Pro) c.2386T>C (p.Ser796Pro) c.1546T>C (p.Ser516Pro) | |
16 | g.1523610A>T | CA394225333 | IFT140 | c.3361T>A (p.Ser1121Thr) c.943T>A (p.Ser315Thr) c.*1799T>A (n.*1799T>A) n.3185T>A c.994T>A (p.Ser332Thr) c.3115T>A (p.Ser1039Thr) c.2386T>A (p.Ser796Thr) c.1546T>A (p.Ser516Thr) | |
16 | g.1523611C>A | CA493031894 | IFT140 | c.3360G>T (p.Thr1120=) c.942G>T (p.Thr314=) c.*1798G>T (n.*1798G>T) n.3184G>T c.993G>T (p.Thr331=) c.3114G>T (p.Thr1038=) c.2385G>T (p.Thr795=) c.1545G>T (p.Thr515=) | |
16 | g.1523611C= | CA2201697808 | IFT140 | c.3360G= (p.Thr1120=) c.942G= (p.Thr314=) c.*1798G= (n.*1798G=) n.3184G= c.993G= (p.Thr331=) c.3114G= (p.Thr1038=) c.2385G= (p.Thr795=) c.1545G= (p.Thr515=) | |
16 | g.1523611C>G | CA493031893 | IFT140 | c.3360G>C (p.Thr1120=) c.942G>C (p.Thr314=) c.*1798G>C (n.*1798G>C) n.3184G>C c.993G>C (p.Thr331=) c.3114G>C (p.Thr1038=) c.2385G>C (p.Thr795=) c.1545G>C (p.Thr515=) | |
16 | g.1523611C>T | CA7813196 | IFT140 | c.3360G>A (p.Thr1120=) c.942G>A (p.Thr314=) c.*1798G>A (n.*1798G>A) n.3184G>A c.993G>A (p.Thr331=) c.3114G>A (p.Thr1038=) c.2385G>A (p.Thr795=) c.1545G>A (p.Thr515=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1523612G>A | CA7813197 | IFT140 | c.3359C>T (p.Thr1120Met) c.941C>T (p.Thr314Met) c.*1797C>T (n.*1797C>T) n.3183C>T c.992C>T (p.Thr331Met) c.3113C>T (p.Thr1038Met) c.2384C>T (p.Thr795Met) c.1544C>T (p.Thr515Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1523612G>C | CA394225334 | IFT140 | c.3359C>G (p.Thr1120Arg) c.941C>G (p.Thr314Arg) c.*1797C>G (n.*1797C>G) n.3183C>G c.992C>G (p.Thr331Arg) c.3113C>G (p.Thr1038Arg) c.2384C>G (p.Thr795Arg) c.1544C>G (p.Thr515Arg) | |
16 | g.1523612G= | CA2201697809 | IFT140 | c.3359C= (p.Thr1120=) c.941C= (p.Thr314=) c.*1797C= (n.*1797C=) n.3183C= c.992C= (p.Thr331=) c.3113C= (p.Thr1038=) c.2384C= (p.Thr795=) c.1544C= (p.Thr515=) | |
16 | g.1523612G>T | CA394225335 | IFT140 | c.3359C>A (p.Thr1120Lys) c.941C>A (p.Thr314Lys) c.*1797C>A (n.*1797C>A) n.3183C>A c.992C>A (p.Thr331Lys) c.3113C>A (p.Thr1038Lys) c.2384C>A (p.Thr795Lys) c.1544C>A (p.Thr515Lys) | |
16 | g.1523613T>A | CA394225336 | IFT140 | c.3358A>T (p.Thr1120Ser) c.940A>T (p.Thr314Ser) c.*1796A>T (n.*1796A>T) n.3182A>T c.991A>T (p.Thr331Ser) c.3112A>T (p.Thr1038Ser) c.2383A>T (p.Thr795Ser) c.1543A>T (p.Thr515Ser) | |
16 | g.1523613T>C | CA394225337 | IFT140 | c.3358A>G (p.Thr1120Ala) c.940A>G (p.Thr314Ala) c.*1796A>G (n.*1796A>G) n.3182A>G c.991A>G (p.Thr331Ala) c.3112A>G (p.Thr1038Ala) c.2383A>G (p.Thr795Ala) c.1543A>G (p.Thr515Ala) | |
16 | g.1523613T>G | CA394225338 | IFT140 | c.3358A>C (p.Thr1120Pro) c.940A>C (p.Thr314Pro) c.*1796A>C (n.*1796A>C) n.3182A>C c.991A>C (p.Thr331Pro) c.3112A>C (p.Thr1038Pro) c.2383A>C (p.Thr795Pro) c.1543A>C (p.Thr515Pro) | |
16 | g.1523614C>A | CA394225339 | IFT140 | c.3357G>T (p.Glu1119Asp) c.939G>T (p.Glu313Asp) c.*1795G>T (n.*1795G>T) n.3181G>T c.990G>T (p.Glu330Asp) c.3111G>T (p.Glu1037Asp) c.2382G>T (p.Glu794Asp) c.1542G>T (p.Glu514Asp) | |
16 | g.1523614C>G | CA394225340 | IFT140 | c.3357G>C (p.Glu1119Asp) c.939G>C (p.Glu313Asp) c.*1795G>C (n.*1795G>C) n.3181G>C c.990G>C (p.Glu330Asp) c.3111G>C (p.Glu1037Asp) c.2382G>C (p.Glu794Asp) c.1542G>C (p.Glu514Asp) | |
16 | g.1523614C>T | CA493031899 | IFT140 | c.3357G>A (p.Glu1119=) c.939G>A (p.Glu313=) c.*1795G>A (n.*1795G>A) n.3181G>A c.990G>A (p.Glu330=) c.3111G>A (p.Glu1037=) c.2382G>A (p.Glu794=) c.1542G>A (p.Glu514=) | |
16 | g.1523615T>A | CA394225342 | IFT140 | c.3356A>T (p.Glu1119Val) c.938A>T (p.Glu313Val) c.*1794A>T (n.*1794A>T) n.3180A>T c.989A>T (p.Glu330Val) c.3110A>T (p.Glu1037Val) c.2381A>T (p.Glu794Val) c.1541A>T (p.Glu514Val) | |
16 | g.1523615T>C | CA394225343 | IFT140 | c.3356A>G (p.Glu1119Gly) c.938A>G (p.Glu313Gly) c.*1794A>G (n.*1794A>G) n.3180A>G c.989A>G (p.Glu330Gly) c.3110A>G (p.Glu1037Gly) c.2381A>G (p.Glu794Gly) c.1541A>G (p.Glu514Gly) | gnomAD v4 |
16 | g.1523615T>G | CA394225341 | IFT140 | c.3356A>C (p.Glu1119Ala) c.938A>C (p.Glu313Ala) c.*1794A>C (n.*1794A>C) n.3180A>C c.989A>C (p.Glu330Ala) c.3110A>C (p.Glu1037Ala) c.2381A>C (p.Glu794Ala) c.1541A>C (p.Glu514Ala) | |
16 | g.1523616C>A | CA394225344 | IFT140 | c.3355G>T (p.Glu1119Ter) c.937G>T (p.Glu313Ter) c.*1793G>T (n.*1793G>T) n.3179G>T c.988G>T (p.Glu330Ter) c.3109G>T (p.Glu1037Ter) c.2380G>T (p.Glu794Ter) c.1540G>T (p.Glu514Ter) | |
16 | g.1523616C= | CA2201697810 | IFT140 | c.3355G= (p.Glu1119=) c.937G= (p.Glu313=) c.*1793G= (n.*1793G=) n.3179G= c.988G= (p.Glu330=) c.3109G= (p.Glu1037=) c.2380G= (p.Glu794=) c.1540G= (p.Glu514=) | |
16 | g.1523616C>G | CA394225345 | IFT140 | c.3355G>C (p.Glu1119Gln) c.937G>C (p.Glu313Gln) c.*1793G>C (n.*1793G>C) n.3179G>C c.988G>C (p.Glu330Gln) c.3109G>C (p.Glu1037Gln) c.2380G>C (p.Glu794Gln) c.1540G>C (p.Glu514Gln) | |
16 | g.1523616C>T | CA276677579 | IFT140 | c.3355G>A (p.Glu1119Lys) c.937G>A (p.Glu313Lys) c.*1793G>A (n.*1793G>A) n.3179G>A c.988G>A (p.Glu330Lys) c.3109G>A (p.Glu1037Lys) c.2380G>A (p.Glu794Lys) c.1540G>A (p.Glu514Lys) | dbSNP |
16 | g.1523617A>C | CA394225346 | IFT140 | c.3354T>G (p.Asp1118Glu) c.936T>G (p.Asp312Glu) c.*1792T>G (n.*1792T>G) n.3178T>G c.987T>G (p.Asp329Glu) c.3108T>G (p.Asp1036Glu) c.2379T>G (p.Asp793Glu) c.1539T>G (p.Asp513Glu) | |
16 | g.1523617A>G | CA493031904 | IFT140 | c.3354T>C (p.Asp1118=) c.936T>C (p.Asp312=) c.*1792T>C (n.*1792T>C) n.3178T>C c.987T>C (p.Asp329=) c.3108T>C (p.Asp1036=) c.2379T>C (p.Asp793=) c.1539T>C (p.Asp513=) | |
16 | g.1523617A>T | CA394225347 | IFT140 | c.3354T>A (p.Asp1118Glu) c.936T>A (p.Asp312Glu) c.*1792T>A (n.*1792T>A) n.3178T>A c.987T>A (p.Asp329Glu) c.3108T>A (p.Asp1036Glu) c.2379T>A (p.Asp793Glu) c.1539T>A (p.Asp513Glu) | |
16 | g.1523618T>A | CA394225350 | IFT140 | c.3353A>T (p.Asp1118Val) c.935A>T (p.Asp312Val) c.*1791A>T (n.*1791A>T) n.3177A>T c.986A>T (p.Asp329Val) c.3107A>T (p.Asp1036Val) c.2378A>T (p.Asp793Val) c.1538A>T (p.Asp513Val) | |
16 | g.1523618T>C | CA394225348 | IFT140 | c.3353A>G (p.Asp1118Gly) c.935A>G (p.Asp312Gly) c.*1791A>G (n.*1791A>G) n.3177A>G c.986A>G (p.Asp329Gly) c.3107A>G (p.Asp1036Gly) c.2378A>G (p.Asp793Gly) c.1538A>G (p.Asp513Gly) | |
16 | g.1523618T>G | CA394225349 | IFT140 | c.3353A>C (p.Asp1118Ala) c.935A>C (p.Asp312Ala) c.*1791A>C (n.*1791A>C) n.3177A>C c.986A>C (p.Asp329Ala) c.3107A>C (p.Asp1036Ala) c.2378A>C (p.Asp793Ala) c.1538A>C (p.Asp513Ala) | |
16 | g.1523619C>A | CA7813198 | IFT140 | c.3352G>T (p.Asp1118Tyr) c.934G>T (p.Asp312Tyr) c.*1790G>T (n.*1790G>T) n.3176G>T c.985G>T (p.Asp329Tyr) c.3106G>T (p.Asp1036Tyr) c.2377G>T (p.Asp793Tyr) c.1537G>T (p.Asp513Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1523619C= | CA2201697811 | IFT140 | c.3352G= (p.Asp1118=) c.934G= (p.Asp312=) c.*1790G= (n.*1790G=) n.3176G= c.985G= (p.Asp329=) c.3106G= (p.Asp1036=) c.2377G= (p.Asp793=) c.1537G= (p.Asp513=) | |
16 | g.1523619C>G | CA394225351 | IFT140 | c.3352G>C (p.Asp1118His) c.934G>C (p.Asp312His) c.*1790G>C (n.*1790G>C) n.3176G>C c.985G>C (p.Asp329His) c.3106G>C (p.Asp1036His) c.2377G>C (p.Asp793His) c.1537G>C (p.Asp513His) | |
16 | g.1523619C>T | CA394225352 | IFT140 | c.3352G>A (p.Asp1118Asn) c.934G>A (p.Asp312Asn) c.*1790G>A (n.*1790G>A) n.3176G>A c.985G>A (p.Asp329Asn) c.3106G>A (p.Asp1036Asn) c.2377G>A (p.Asp793Asn) c.1537G>A (p.Asp513Asn) | |
16 | g.1523620C>A | CA493031911 | IFT140 | c.3351G>T (p.Leu1117=) c.933G>T (p.Leu311=) c.*1789G>T (n.*1789G>T) n.3175G>T c.984G>T (p.Leu328=) c.3105G>T (p.Leu1035=) c.2376G>T (p.Leu792=) c.1536G>T (p.Leu512=) | |
16 | g.1523620C>G | CA493031912 | IFT140 | c.3351G>C (p.Leu1117=) c.933G>C (p.Leu311=) c.*1789G>C (n.*1789G>C) n.3175G>C c.984G>C (p.Leu328=) c.3105G>C (p.Leu1035=) c.2376G>C (p.Leu792=) c.1536G>C (p.Leu512=) | |
16 | g.1523620C>T | CA493031914 | IFT140 | c.3351G>A (p.Leu1117=) c.933G>A (p.Leu311=) c.*1789G>A (n.*1789G>A) n.3175G>A c.984G>A (p.Leu328=) c.3105G>A (p.Leu1035=) c.2376G>A (p.Leu792=) c.1536G>A (p.Leu512=) | |
16 | g.1523621A= | CA2201697812 | IFT140 | c.3350T= (p.Leu1117=) c.932T= (p.Leu311=) c.*1788T= (n.*1788T=) n.3174T= c.983T= (p.Leu328=) c.3104T= (p.Leu1035=) c.2375T= (p.Leu792=) c.1535T= (p.Leu512=) | |
16 | g.1523621A>C | CA394225353 | IFT140 | c.3350T>G (p.Leu1117Arg) c.932T>G (p.Leu311Arg) c.*1788T>G (n.*1788T>G) n.3174T>G c.983T>G (p.Leu328Arg) c.3104T>G (p.Leu1035Arg) c.2375T>G (p.Leu792Arg) c.1535T>G (p.Leu512Arg) | |
16 | g.1523621A>G | CA7813199 | IFT140 | c.3350T>C (p.Leu1117Pro) c.932T>C (p.Leu311Pro) c.*1788T>C (n.*1788T>C) n.3174T>C c.983T>C (p.Leu328Pro) c.3104T>C (p.Leu1035Pro) c.2375T>C (p.Leu792Pro) c.1535T>C (p.Leu512Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1523621A>T | CA394225354 | IFT140 | c.3350T>A (p.Leu1117Gln) c.932T>A (p.Leu311Gln) c.*1788T>A (n.*1788T>A) n.3174T>A c.983T>A (p.Leu328Gln) c.3104T>A (p.Leu1035Gln) c.2375T>A (p.Leu792Gln) c.1535T>A (p.Leu512Gln) | gnomAD v4 |
16 | g.1523622G>A | CA493031919 | IFT140 | c.3349C>T (p.Leu1117=) c.931C>T (p.Leu311=) c.*1787C>T (n.*1787C>T) n.3173C>T c.982C>T (p.Leu328=) c.3103C>T (p.Leu1035=) c.2374C>T (p.Leu792=) c.1534C>T (p.Leu512=) | |
16 | g.1523622G>C | CA394225356 | IFT140 | c.3349C>G (p.Leu1117Val) c.931C>G (p.Leu311Val) c.*1787C>G (n.*1787C>G) n.3173C>G c.982C>G (p.Leu328Val) c.3103C>G (p.Leu1035Val) c.2374C>G (p.Leu792Val) c.1534C>G (p.Leu512Val) | |
16 | g.1523622G>T | CA394225355 | IFT140 | c.3349C>A (p.Leu1117Met) c.931C>A (p.Leu311Met) c.*1787C>A (n.*1787C>A) n.3173C>A c.982C>A (p.Leu328Met) c.3103C>A (p.Leu1035Met) c.2374C>A (p.Leu792Met) c.1534C>A (p.Leu512Met) | |
16 | g.1523623G>A | CA493031920 | IFT140 | c.3348C>T (p.Asp1116=) c.930C>T (p.Asp310=) c.*1786C>T (n.*1786C>T) n.3172C>T c.981C>T (p.Asp327=) c.3102C>T (p.Asp1034=) c.2373C>T (p.Asp791=) c.1533C>T (p.Asp511=) | gnomAD v4 |
16 | g.1523623G>C | CA394225357 | IFT140 | c.3348C>G (p.Asp1116Glu) c.930C>G (p.Asp310Glu) c.*1786C>G (n.*1786C>G) n.3172C>G c.981C>G (p.Asp327Glu) c.3102C>G (p.Asp1034Glu) c.2373C>G (p.Asp791Glu) c.1533C>G (p.Asp511Glu) | |
16 | g.1523623G= | CA2201697813 | IFT140 | c.3348C= (p.Asp1116=) c.930C= (p.Asp310=) c.*1786C= (n.*1786C=) n.3172C= c.981C= (p.Asp327=) c.3102C= (p.Asp1034=) c.2373C= (p.Asp791=) c.1533C= (p.Asp511=) | |
16 | g.1523623G>T | CA394225358 | IFT140 | c.3348C>A (p.Asp1116Glu) c.930C>A (p.Asp310Glu) c.*1786C>A (n.*1786C>A) n.3172C>A c.981C>A (p.Asp327Glu) c.3102C>A (p.Asp1034Glu) c.2373C>A (p.Asp791Glu) c.1533C>A (p.Asp511Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1523624T>A | CA394225359 | IFT140 | c.3347A>T (p.Asp1116Val) c.929A>T (p.Asp310Val) c.*1785A>T (n.*1785A>T) n.3171A>T c.980A>T (p.Asp327Val) c.3101A>T (p.Asp1034Val) c.2372A>T (p.Asp791Val) c.1532A>T (p.Asp511Val) | |
16 | g.1523624T>C | CA7813200 | IFT140 | c.3347A>G (p.Asp1116Gly) c.929A>G (p.Asp310Gly) c.*1785A>G (n.*1785A>G) n.3171A>G c.980A>G (p.Asp327Gly) c.3101A>G (p.Asp1034Gly) c.2372A>G (p.Asp791Gly) c.1532A>G (p.Asp511Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1523624T>G | CA394225360 | IFT140 | c.3347A>C (p.Asp1116Ala) c.929A>C (p.Asp310Ala) c.*1785A>C (n.*1785A>C) n.3171A>C c.980A>C (p.Asp327Ala) c.3101A>C (p.Asp1034Ala) c.2372A>C (p.Asp791Ala) c.1532A>C (p.Asp511Ala) | |
16 | g.1523624T= | CA2201697814 | IFT140 | c.3347A= (p.Asp1116=) c.929A= (p.Asp310=) c.*1785A= (n.*1785A=) n.3171A= c.980A= (p.Asp327=) c.3101A= (p.Asp1034=) c.2372A= (p.Asp791=) c.1532A= (p.Asp511=) | |
16 | g.1523625C>A | CA394225361 | IFT140 | c.3346G>T (p.Asp1116Tyr) c.928G>T (p.Asp310Tyr) c.*1784G>T (n.*1784G>T) n.3170G>T c.979G>T (p.Asp327Tyr) c.3100G>T (p.Asp1034Tyr) c.2371G>T (p.Asp791Tyr) c.1531G>T (p.Asp511Tyr) | |
16 | g.1523625C= | CA2201697815 | IFT140 | c.3346G= (p.Asp1116=) c.928G= (p.Asp310=) c.*1784G= (n.*1784G=) n.3170G= c.979G= (p.Asp327=) c.3100G= (p.Asp1034=) c.2371G= (p.Asp791=) c.1531G= (p.Asp511=) | |
16 | g.1523625C>G | CA394225363 | IFT140 | c.3346G>C (p.Asp1116His) c.928G>C (p.Asp310His) c.*1784G>C (n.*1784G>C) n.3170G>C c.979G>C (p.Asp327His) c.3100G>C (p.Asp1034His) c.2371G>C (p.Asp791His) c.1531G>C (p.Asp511His) | |
16 | g.1523625C>T | CA394225362 | IFT140 | c.3346G>A (p.Asp1116Asn) c.928G>A (p.Asp310Asn) c.*1784G>A (n.*1784G>A) n.3170G>A c.979G>A (p.Asp327Asn) c.3100G>A (p.Asp1034Asn) c.2371G>A (p.Asp791Asn) c.1531G>A (p.Asp511Asn) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.1523626C>A | CA394225364 | IFT140 | c.3345G>T (p.Glu1115Asp) c.927G>T (p.Glu309Asp) c.*1783G>T (n.*1783G>T) n.3169G>T c.978G>T (p.Glu326Asp) c.3099G>T (p.Glu1033Asp) c.2370G>T (p.Glu790Asp) c.1530G>T (p.Glu510Asp) | |
16 | g.1523626C= | CA2201697816 | IFT140 | c.3345G= (p.Glu1115=) c.927G= (p.Glu309=) c.*1783G= (n.*1783G=) n.3169G= c.978G= (p.Glu326=) c.3099G= (p.Glu1033=) c.2370G= (p.Glu790=) c.1530G= (p.Glu510=) | |
16 | g.1523626C>G | CA394225365 | IFT140 | c.3345G>C (p.Glu1115Asp) c.927G>C (p.Glu309Asp) c.*1783G>C (n.*1783G>C) n.3169G>C c.978G>C (p.Glu326Asp) c.3099G>C (p.Glu1033Asp) c.2370G>C (p.Glu790Asp) c.1530G>C (p.Glu510Asp) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.1523626C>T | CA493031927 | IFT140 | c.3345G>A (p.Glu1115=) c.927G>A (p.Glu309=) c.*1783G>A (n.*1783G>A) n.3169G>A c.978G>A (p.Glu326=) c.3099G>A (p.Glu1033=) c.2370G>A (p.Glu790=) c.1530G>A (p.Glu510=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1523627T>A | CA394225366 | IFT140 | c.3344A>T (p.Glu1115Val) c.926A>T (p.Glu309Val) c.*1782A>T (n.*1782A>T) n.3168A>T c.977A>T (p.Glu326Val) c.3098A>T (p.Glu1033Val) c.2369A>T (p.Glu790Val) c.1529A>T (p.Glu510Val) | |
16 | g.1523627T>C | CA394225367 | IFT140 | c.3344A>G (p.Glu1115Gly) c.926A>G (p.Glu309Gly) c.*1782A>G (n.*1782A>G) n.3168A>G c.977A>G (p.Glu326Gly) c.3098A>G (p.Glu1033Gly) c.2369A>G (p.Glu790Gly) c.1529A>G (p.Glu510Gly) | |
16 | g.1523627T>G | CA394225368 | IFT140 | c.3344A>C (p.Glu1115Ala) c.926A>C (p.Glu309Ala) c.*1782A>C (n.*1782A>C) n.3168A>C c.977A>C (p.Glu326Ala) c.3098A>C (p.Glu1033Ala) c.2369A>C (p.Glu790Ala) c.1529A>C (p.Glu510Ala) | |
16 | g.1523628C>A | CA394225369 | IFT140 | c.3343G>T (p.Glu1115Ter) c.925G>T (p.Glu309Ter) c.*1781G>T (n.*1781G>T) n.3167G>T c.976G>T (p.Glu326Ter) c.3097G>T (p.Glu1033Ter) c.2368G>T (p.Glu790Ter) c.1528G>T (p.Glu510Ter) | |
16 | g.1523628C>G | CA394225370 | IFT140 | c.3343G>C (p.Glu1115Gln) c.925G>C (p.Glu309Gln) c.*1781G>C (n.*1781G>C) n.3167G>C c.976G>C (p.Glu326Gln) c.3097G>C (p.Glu1033Gln) c.2368G>C (p.Glu790Gln) c.1528G>C (p.Glu510Gln) | |
16 | g.1523628C>T | CA394225371 | IFT140 | c.3343G>A (p.Glu1115Lys) c.925G>A (p.Glu309Lys) c.*1781G>A (n.*1781G>A) n.3167G>A c.976G>A (p.Glu326Lys) c.3097G>A (p.Glu1033Lys) c.2368G>A (p.Glu790Lys) c.1528G>A (p.Glu510Lys) | |
16 | g.1523629T>A | CA493031935 | IFT140 | c.3342A>T (p.Ala1114=) c.924A>T (p.Ala308=) c.*1780A>T (n.*1780A>T) n.3166A>T c.975A>T (p.Ala325=) c.3096A>T (p.Ala1032=) c.2367A>T (p.Ala789=) c.1527A>T (p.Ala509=) | |
16 | g.1523629T>C | CA493031938 | IFT140 | c.3342A>G (p.Ala1114=) c.924A>G (p.Ala308=) c.*1780A>G (n.*1780A>G) n.3166A>G c.975A>G (p.Ala325=) c.3096A>G (p.Ala1032=) c.2367A>G (p.Ala789=) c.1527A>G (p.Ala509=) | |
16 | g.1523629T>G | CA493031940 | IFT140 | c.3342A>C (p.Ala1114=) c.924A>C (p.Ala308=) c.*1780A>C (n.*1780A>C) n.3166A>C c.975A>C (p.Ala325=) c.3096A>C (p.Ala1032=) c.2367A>C (p.Ala789=) c.1527A>C (p.Ala509=) | |
16 | g.1523630G>A | CA394225372 | IFT140 | c.3341C>T (p.Ala1114Val) c.923C>T (p.Ala308Val) c.*1779C>T (n.*1779C>T) n.3165C>T c.974C>T (p.Ala325Val) c.3095C>T (p.Ala1032Val) c.2366C>T (p.Ala789Val) c.1526C>T (p.Ala509Val) | dbSNP gnomAD v4 |
16 | g.1523630G>C | CA394225373 | IFT140 | c.3341C>G (p.Ala1114Gly) c.923C>G (p.Ala308Gly) c.*1779C>G (n.*1779C>G) n.3165C>G c.974C>G (p.Ala325Gly) c.3095C>G (p.Ala1032Gly) c.2366C>G (p.Ala789Gly) c.1526C>G (p.Ala509Gly) | |
16 | g.1523630G= | CA2201697817 | IFT140 | c.3341C= (p.Ala1114=) c.923C= (p.Ala308=) c.*1779C= (n.*1779C=) n.3165C= c.974C= (p.Ala325=) c.3095C= (p.Ala1032=) c.2366C= (p.Ala789=) c.1526C= (p.Ala509=) | |
16 | g.1523630G>T | CA394225374 | IFT140 | c.3341C>A (p.Ala1114Glu) c.923C>A (p.Ala308Glu) c.*1779C>A (n.*1779C>A) n.3165C>A c.974C>A (p.Ala325Glu) c.3095C>A (p.Ala1032Glu) c.2366C>A (p.Ala789Glu) c.1526C>A (p.Ala509Glu) | |
16 | g.1523631C>A | CA394225375 | IFT140 | c.3340G>T (p.Ala1114Ser) c.922G>T (p.Ala308Ser) c.*1778G>T (n.*1778G>T) n.3164G>T c.973G>T (p.Ala325Ser) c.3094G>T (p.Ala1032Ser) c.2365G>T (p.Ala789Ser) c.1525G>T (p.Ala509Ser) | |
16 | g.1523631C>G | CA394225376 | IFT140 | c.3340G>C (p.Ala1114Pro) c.922G>C (p.Ala308Pro) c.*1778G>C (n.*1778G>C) n.3164G>C c.973G>C (p.Ala325Pro) c.3094G>C (p.Ala1032Pro) c.2365G>C (p.Ala789Pro) c.1525G>C (p.Ala509Pro) | |
16 | g.1523631C>T | CA394225377 | IFT140 | c.3340G>A (p.Ala1114Thr) c.922G>A (p.Ala308Thr) c.*1778G>A (n.*1778G>A) n.3164G>A c.973G>A (p.Ala325Thr) c.3094G>A (p.Ala1032Thr) c.2365G>A (p.Ala789Thr) c.1525G>A (p.Ala509Thr) | |
16 | g.1523632T>A | CA493031947 | IFT140 | c.3339A>T (p.Ile1113=) c.921A>T (p.Ile307=) c.*1777A>T (n.*1777A>T) n.3163A>T c.972A>T (p.Ile324=) c.3093A>T (p.Ile1031=) c.2364A>T (p.Ile788=) c.1524A>T (p.Ile508=) | |
16 | g.1523632T>C | CA394225378 | IFT140 | c.3339A>G (p.Ile1113Met) c.921A>G (p.Ile307Met) c.*1777A>G (n.*1777A>G) n.3163A>G c.972A>G (p.Ile324Met) c.3093A>G (p.Ile1031Met) c.2364A>G (p.Ile788Met) c.1524A>G (p.Ile508Met) | gnomAD v4 |
16 | g.1523632T>G | CA493031944 | IFT140 | c.3339A>C (p.Ile1113=) c.921A>C (p.Ile307=) c.*1777A>C (n.*1777A>C) n.3163A>C c.972A>C (p.Ile324=) c.3093A>C (p.Ile1031=) c.2364A>C (p.Ile788=) c.1524A>C (p.Ile508=) | |
16 | g.1523633A= | CA2201697818 | IFT140 | c.3338T= (p.Ile1113=) c.920T= (p.Ile307=) c.*1776T= (n.*1776T=) n.3162T= c.971T= (p.Ile324=) c.3092T= (p.Ile1031=) c.2363T= (p.Ile788=) c.1523T= (p.Ile508=) | |
16 | g.1523633A>C | CA394225379 | IFT140 | c.3338T>G (p.Ile1113Arg) c.920T>G (p.Ile307Arg) c.*1776T>G (n.*1776T>G) n.3162T>G c.971T>G (p.Ile324Arg) c.3092T>G (p.Ile1031Arg) c.2363T>G (p.Ile788Arg) c.1523T>G (p.Ile508Arg) | |
16 | g.1523633A>G | CA394225381 | IFT140 | c.3338T>C (p.Ile1113Thr) c.920T>C (p.Ile307Thr) c.*1776T>C (n.*1776T>C) n.3162T>C c.971T>C (p.Ile324Thr) c.3092T>C (p.Ile1031Thr) c.2363T>C (p.Ile788Thr) c.1523T>C (p.Ile508Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.1523633A>T | CA394225380 | IFT140 | c.3338T>A (p.Ile1113Lys) c.920T>A (p.Ile307Lys) c.*1776T>A (n.*1776T>A) n.3162T>A c.971T>A (p.Ile324Lys) c.3092T>A (p.Ile1031Lys) c.2363T>A (p.Ile788Lys) c.1523T>A (p.Ile508Lys) | |
16 | g.1523634T>A | CA394225382 | IFT140 | c.3337A>T (p.Ile1113Leu) c.919A>T (p.Ile307Leu) c.*1775A>T (n.*1775A>T) n.3161A>T c.970A>T (p.Ile324Leu) c.3091A>T (p.Ile1031Leu) c.2362A>T (p.Ile788Leu) c.1522A>T (p.Ile508Leu) | |
16 | g.1523634T>C | CA394225383 | IFT140 | c.3337A>G (p.Ile1113Val) c.919A>G (p.Ile307Val) c.*1775A>G (n.*1775A>G) n.3161A>G c.970A>G (p.Ile324Val) c.3091A>G (p.Ile1031Val) c.2362A>G (p.Ile788Val) c.1522A>G (p.Ile508Val) | gnomAD v4 |
16 | g.1523634T>G | CA394225384 | IFT140 | c.3337A>C (p.Ile1113Leu) c.919A>C (p.Ile307Leu) c.*1775A>C (n.*1775A>C) n.3161A>C c.970A>C (p.Ile324Leu) c.3091A>C (p.Ile1031Leu) c.2362A>C (p.Ile788Leu) c.1522A>C (p.Ile508Leu) | |
16 | g.1523635G>A | CA7813201 | IFT140 | c.3336C>T (p.Leu1112=) c.918C>T (p.Leu306=) c.*1774C>T (n.*1774C>T) n.3160C>T c.969C>T (p.Leu323=) c.3090C>T (p.Leu1030=) c.2361C>T (p.Leu787=) c.1521C>T (p.Leu507=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1523635G>C | CA493031953 | IFT140 | c.3336C>G (p.Leu1112=) c.918C>G (p.Leu306=) c.*1774C>G (n.*1774C>G) n.3160C>G c.969C>G (p.Leu323=) c.3090C>G (p.Leu1030=) c.2361C>G (p.Leu787=) c.1521C>G (p.Leu507=) | |
16 | g.1523635G= | CA2201697819 | IFT140 | c.3336C= (p.Leu1112=) c.918C= (p.Leu306=) c.*1774C= (n.*1774C=) n.3160C= c.969C= (p.Leu323=) c.3090C= (p.Leu1030=) c.2361C= (p.Leu787=) c.1521C= (p.Leu507=) | |
16 | g.1523635G>T | CA493031950 | IFT140 | c.3336C>A (p.Leu1112=) c.918C>A (p.Leu306=) c.*1774C>A (n.*1774C>A) n.3160C>A c.969C>A (p.Leu323=) c.3090C>A (p.Leu1030=) c.2361C>A (p.Leu787=) c.1521C>A (p.Leu507=) | |
16 | g.1523636A>C | CA394225385 | IFT140 | c.3335T>G (p.Leu1112Arg) c.917T>G (p.Leu306Arg) c.*1773T>G (n.*1773T>G) n.3159T>G c.968T>G (p.Leu323Arg) c.3089T>G (p.Leu1030Arg) c.2360T>G (p.Leu787Arg) c.1520T>G (p.Leu507Arg) | |
16 | g.1523636A>G | CA394225386 | IFT140 | c.3335T>C (p.Leu1112Pro) c.917T>C (p.Leu306Pro) c.*1773T>C (n.*1773T>C) n.3159T>C c.968T>C (p.Leu323Pro) c.3089T>C (p.Leu1030Pro) c.2360T>C (p.Leu787Pro) c.1520T>C (p.Leu507Pro) | |
16 | g.1523636A>T | CA394225387 | IFT140 | c.3335T>A (p.Leu1112His) c.917T>A (p.Leu306His) c.*1773T>A (n.*1773T>A) n.3159T>A c.968T>A (p.Leu323His) c.3089T>A (p.Leu1030His) c.2360T>A (p.Leu787His) c.1520T>A (p.Leu507His) | |
16 | g.1523637G>A | CA394225388 | IFT140 | c.3334C>T (p.Leu1112Phe) c.916C>T (p.Leu306Phe) c.*1772C>T (n.*1772C>T) n.3158C>T c.967C>T (p.Leu323Phe) c.3088C>T (p.Leu1030Phe) c.2359C>T (p.Leu787Phe) c.1519C>T (p.Leu507Phe) | gnomAD v4 |
16 | g.1523637G>C | CA394225389 | IFT140 | c.3334C>G (p.Leu1112Val) c.916C>G (p.Leu306Val) c.*1772C>G (n.*1772C>G) n.3158C>G c.967C>G (p.Leu323Val) c.3088C>G (p.Leu1030Val) c.2359C>G (p.Leu787Val) c.1519C>G (p.Leu507Val) | |
16 | g.1523637G>T | CA394225390 | IFT140 | c.3334C>A (p.Leu1112Ile) c.916C>A (p.Leu306Ile) c.*1772C>A (n.*1772C>A) n.3158C>A c.967C>A (p.Leu323Ile) c.3088C>A (p.Leu1030Ile) c.2359C>A (p.Leu787Ile) c.1519C>A (p.Leu507Ile) | |
16 | g.1523638C>A | CA394225392 | IFT140 | c.3333G>T (p.Gln1111His) c.915G>T (p.Gln305His) c.*1771G>T (n.*1771G>T) n.3157G>T c.966G>T (p.Gln322His) c.3087G>T (p.Gln1029His) c.2358G>T (p.Gln786His) c.1518G>T (p.Gln506His) | |
16 | g.1523638C>G | CA394225391 | IFT140 | c.3333G>C (p.Gln1111His) c.915G>C (p.Gln305His) c.*1771G>C (n.*1771G>C) n.3157G>C c.966G>C (p.Gln322His) c.3087G>C (p.Gln1029His) c.2358G>C (p.Gln786His) c.1518G>C (p.Gln506His) | gnomAD v4 |
16 | g.1523638C>T | CA493031957 | IFT140 | c.3333G>A (p.Gln1111=) c.915G>A (p.Gln305=) c.*1771G>A (n.*1771G>A) n.3157G>A c.966G>A (p.Gln322=) c.3087G>A (p.Gln1029=) c.2358G>A (p.Gln786=) c.1518G>A (p.Gln506=) | gnomAD v4 |
16 | g.1523639T>A | CA394225393 | IFT140 | c.3332A>T (p.Gln1111Leu) c.914A>T (p.Gln305Leu) c.*1770A>T (n.*1770A>T) n.3156A>T c.965A>T (p.Gln322Leu) c.3086A>T (p.Gln1029Leu) c.2357A>T (p.Gln786Leu) c.1517A>T (p.Gln506Leu) | |
16 | g.1523639T>C | CA394225394 | IFT140 | c.3332A>G (p.Gln1111Arg) c.914A>G (p.Gln305Arg) c.*1770A>G (n.*1770A>G) n.3156A>G c.965A>G (p.Gln322Arg) c.3086A>G (p.Gln1029Arg) c.2357A>G (p.Gln786Arg) c.1517A>G (p.Gln506Arg) | dbSNP gnomAD v2 |
16 | g.1523639T>G | CA394225395 | IFT140 | c.3332A>C (p.Gln1111Pro) c.914A>C (p.Gln305Pro) c.*1770A>C (n.*1770A>C) n.3156A>C c.965A>C (p.Gln322Pro) c.3086A>C (p.Gln1029Pro) c.2357A>C (p.Gln786Pro) c.1517A>C (p.Gln506Pro) | |
16 | g.1523639T= | CA2201697820 | IFT140 | c.3332A= (p.Gln1111=) c.914A= (p.Gln305=) c.*1770A= (n.*1770A=) n.3156A= c.965A= (p.Gln322=) c.3086A= (p.Gln1029=) c.2357A= (p.Gln786=) c.1517A= (p.Gln506=) | |
16 | g.1523640G>A | CA394225396 | IFT140 | c.3331C>T (p.Gln1111Ter) c.913C>T (p.Gln305Ter) c.*1769C>T (n.*1769C>T) n.3155C>T c.964C>T (p.Gln322Ter) c.3085C>T (p.Gln1029Ter) c.2356C>T (p.Gln786Ter) c.1516C>T (p.Gln506Ter) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1523640G>C | CA394225397 | IFT140 | c.3331C>G (p.Gln1111Glu) c.913C>G (p.Gln305Glu) c.*1769C>G (n.*1769C>G) n.3155C>G c.964C>G (p.Gln322Glu) c.3085C>G (p.Gln1029Glu) c.2356C>G (p.Gln786Glu) c.1516C>G (p.Gln506Glu) | |
16 | g.1523640G= | CA2201697821 | IFT140 | c.3331C= (p.Gln1111=) c.913C= (p.Gln305=) c.*1769C= (n.*1769C=) n.3155C= c.964C= (p.Gln322=) c.3085C= (p.Gln1029=) c.2356C= (p.Gln786=) c.1516C= (p.Gln506=) | |
16 | g.1523640G>T | CA394225398 | IFT140 | c.3331C>A (p.Gln1111Lys) c.913C>A (p.Gln305Lys) c.*1769C>A (n.*1769C>A) n.3155C>A c.964C>A (p.Gln322Lys) c.3085C>A (p.Gln1029Lys) c.2356C>A (p.Gln786Lys) c.1516C>A (p.Gln506Lys) | |
16 | g.1523641T>A | CA493031962 | IFT140 | c.3330A>T (p.Leu1110=) c.912A>T (p.Leu304=) c.*1768A>T (n.*1768A>T) n.3154A>T c.963A>T (p.Leu321=) c.3084A>T (p.Leu1028=) c.2355A>T (p.Leu785=) c.1515A>T (p.Leu505=) | |
16 | g.1523641T>C | CA493031964 | IFT140 | c.3330A>G (p.Leu1110=) c.912A>G (p.Leu304=) c.*1768A>G (n.*1768A>G) n.3154A>G c.963A>G (p.Leu321=) c.3084A>G (p.Leu1028=) c.2355A>G (p.Leu785=) c.1515A>G (p.Leu505=) | gnomAD v4 |
16 | g.1523641T>G | CA493031965 | IFT140 | c.3330A>C (p.Leu1110=) c.912A>C (p.Leu304=) c.*1768A>C (n.*1768A>C) n.3154A>C c.963A>C (p.Leu321=) c.3084A>C (p.Leu1028=) c.2355A>C (p.Leu785=) c.1515A>C (p.Leu505=) | |
16 | g.1523642A= | CA2201697822 | IFT140 | c.3329T= (p.Leu1110=) c.911T= (p.Leu304=) c.*1767T= (n.*1767T=) n.3153T= c.962T= (p.Leu321=) c.3083T= (p.Leu1028=) c.2354T= (p.Leu785=) c.1514T= (p.Leu505=) | |
16 | g.1523642A>C | CA394225400 | IFT140 | c.3329T>G (p.Leu1110Arg) c.911T>G (p.Leu304Arg) c.*1767T>G (n.*1767T>G) n.3153T>G c.962T>G (p.Leu321Arg) c.3083T>G (p.Leu1028Arg) c.2354T>G (p.Leu785Arg) c.1514T>G (p.Leu505Arg) | |
16 | g.1523642A>G | CA394225399 | IFT140 | c.3329T>C (p.Leu1110Pro) c.911T>C (p.Leu304Pro) c.*1767T>C (n.*1767T>C) n.3153T>C c.962T>C (p.Leu321Pro) c.3083T>C (p.Leu1028Pro) c.2354T>C (p.Leu785Pro) c.1514T>C (p.Leu505Pro) | |
16 | g.1523642A>T | CA7813202 | IFT140 | c.3329T>A (p.Leu1110Gln) c.911T>A (p.Leu304Gln) c.*1767T>A (n.*1767T>A) n.3153T>A c.962T>A (p.Leu321Gln) c.3083T>A (p.Leu1028Gln) c.2354T>A (p.Leu785Gln) c.1514T>A (p.Leu505Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1523643G>A | CA493031967 | IFT140 | c.3328C>T (p.Leu1110=) c.910C>T (p.Leu304=) c.*1766C>T (n.*1766C>T) n.3152C>T c.961C>T (p.Leu321=) c.3082C>T (p.Leu1028=) c.2353C>T (p.Leu785=) c.1513C>T (p.Leu505=) | |
16 | g.1523643G>C | CA394225401 | IFT140 | c.3328C>G (p.Leu1110Val) c.910C>G (p.Leu304Val) c.*1766C>G (n.*1766C>G) n.3152C>G c.961C>G (p.Leu321Val) c.3082C>G (p.Leu1028Val) c.2353C>G (p.Leu785Val) c.1513C>G (p.Leu505Val) | |
16 | g.1523643G>T | CA394225402 | IFT140 | c.3328C>A (p.Leu1110Ile) c.910C>A (p.Leu304Ile) c.*1766C>A (n.*1766C>A) n.3152C>A c.961C>A (p.Leu321Ile) c.3082C>A (p.Leu1028Ile) c.2353C>A (p.Leu785Ile) c.1513C>A (p.Leu505Ile) | |
16 | g.1523644G>A | CA493031968 | IFT140 | c.3327C>T (p.Ala1109=) c.909C>T (p.Ala303=) c.*1765C>T (n.*1765C>T) n.3151C>T c.960C>T (p.Ala320=) c.3081C>T (p.Ala1027=) c.2352C>T (p.Ala784=) c.1512C>T (p.Ala504=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1523644G>C | CA493031969 | IFT140 | c.3327C>G (p.Ala1109=) c.909C>G (p.Ala303=) c.*1765C>G (n.*1765C>G) n.3151C>G c.960C>G (p.Ala320=) c.3081C>G (p.Ala1027=) c.2352C>G (p.Ala784=) c.1512C>G (p.Ala504=) | |
16 | g.1523644G= | CA2201697823 | IFT140 | c.3327C= (p.Ala1109=) c.909C= (p.Ala303=) c.*1765C= (n.*1765C=) n.3151C= c.960C= (p.Ala320=) c.3081C= (p.Ala1027=) c.2352C= (p.Ala784=) c.1512C= (p.Ala504=) | |
16 | g.1523644G>T | CA493031972 | IFT140 | c.3327C>A (p.Ala1109=) c.909C>A (p.Ala303=) c.*1765C>A (n.*1765C>A) n.3151C>A c.960C>A (p.Ala320=) c.3081C>A (p.Ala1027=) c.2352C>A (p.Ala784=) c.1512C>A (p.Ala504=) | |
16 | g.1523645G>A | CA276677603 | IFT140 | c.3326C>T (p.Ala1109Val) c.908C>T (p.Ala303Val) c.*1764C>T (n.*1764C>T) n.3150C>T c.959C>T (p.Ala320Val) c.3080C>T (p.Ala1027Val) c.2351C>T (p.Ala784Val) c.1511C>T (p.Ala504Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.1523645G>C | CA394225403 | IFT140 | c.3326C>G (p.Ala1109Gly) c.908C>G (p.Ala303Gly) c.*1764C>G (n.*1764C>G) n.3150C>G c.959C>G (p.Ala320Gly) c.3080C>G (p.Ala1027Gly) c.2351C>G (p.Ala784Gly) c.1511C>G (p.Ala504Gly) | |
16 | g.1523645G= | CA2201697824 | IFT140 | c.3326C= (p.Ala1109=) c.908C= (p.Ala303=) c.*1764C= (n.*1764C=) n.3150C= c.959C= (p.Ala320=) c.3080C= (p.Ala1027=) c.2351C= (p.Ala784=) c.1511C= (p.Ala504=) | |
16 | g.1523645G>T | CA394225404 | IFT140 | c.3326C>A (p.Ala1109Asp) c.908C>A (p.Ala303Asp) c.*1764C>A (n.*1764C>A) n.3150C>A c.959C>A (p.Ala320Asp) c.3080C>A (p.Ala1027Asp) c.2351C>A (p.Ala784Asp) c.1511C>A (p.Ala504Asp) | |
16 | g.1523646C>A | CA394225405 | IFT140 | c.3325G>T (p.Ala1109Ser) c.907G>T (p.Ala303Ser) c.*1763G>T (n.*1763G>T) n.3149G>T c.958G>T (p.Ala320Ser) c.3079G>T (p.Ala1027Ser) c.2350G>T (p.Ala784Ser) c.1510G>T (p.Ala504Ser) | |
16 | g.1523646C>G | CA394225407 | IFT140 | c.3325G>C (p.Ala1109Pro) c.907G>C (p.Ala303Pro) c.*1763G>C (n.*1763G>C) n.3149G>C c.958G>C (p.Ala320Pro) c.3079G>C (p.Ala1027Pro) c.2350G>C (p.Ala784Pro) c.1510G>C (p.Ala504Pro) | |
16 | g.1523646C>T | CA394225406 | IFT140 | c.3325G>A (p.Ala1109Thr) c.907G>A (p.Ala303Thr) c.*1763G>A (n.*1763G>A) n.3149G>A c.958G>A (p.Ala320Thr) c.3079G>A (p.Ala1027Thr) c.2350G>A (p.Ala784Thr) c.1510G>A (p.Ala504Thr) | |
16 | g.1523647C>A | CA493031979 | IFT140 | c.3324G>T (p.Val1108=) c.906G>T (p.Val302=) c.*1762G>T (n.*1762G>T) n.3148G>T c.957G>T (p.Val319=) c.3078G>T (p.Val1026=) c.2349G>T (p.Val783=) c.1509G>T (p.Val503=) | |
16 | g.1523647C>G | CA493031981 | IFT140 | c.3324G>C (p.Val1108=) c.906G>C (p.Val302=) c.*1762G>C (n.*1762G>C) n.3148G>C c.957G>C (p.Val319=) c.3078G>C (p.Val1026=) c.2349G>C (p.Val783=) c.1509G>C (p.Val503=) | |
16 | g.1523647C>T | CA493031982 | IFT140 | c.3324G>A (p.Val1108=) c.906G>A (p.Val302=) c.*1762G>A (n.*1762G>A) n.3148G>A c.957G>A (p.Val319=) c.3078G>A (p.Val1026=) c.2349G>A (p.Val783=) c.1509G>A (p.Val503=) | |
16 | g.1523648A= | CA2201697825 | IFT140 | c.3323T= (p.Val1108=) c.905T= (p.Val302=) c.*1761T= (n.*1761T=) n.3147T= c.956T= (p.Val319=) c.3077T= (p.Val1026=) c.2348T= (p.Val783=) c.1508T= (p.Val503=) | |
16 | g.1523648A>C | CA394225408 | IFT140 | c.3323T>G (p.Val1108Gly) c.905T>G (p.Val302Gly) c.*1761T>G (n.*1761T>G) n.3147T>G c.956T>G (p.Val319Gly) c.3077T>G (p.Val1026Gly) c.2348T>G (p.Val783Gly) c.1508T>G (p.Val503Gly) | |
16 | g.1523648A>G | CA394225409 | IFT140 | c.3323T>C (p.Val1108Ala) c.905T>C (p.Val302Ala) c.*1761T>C (n.*1761T>C) n.3147T>C c.956T>C (p.Val319Ala) c.3077T>C (p.Val1026Ala) c.2348T>C (p.Val783Ala) c.1508T>C (p.Val503Ala) | ClinVar dbSNP |
16 | g.1523648A>T | CA394225410 | IFT140 | c.3323T>A (p.Val1108Glu) c.905T>A (p.Val302Glu) c.*1761T>A (n.*1761T>A) n.3147T>A c.956T>A (p.Val319Glu) c.3077T>A (p.Val1026Glu) c.2348T>A (p.Val783Glu) c.1508T>A (p.Val503Glu) | |
16 | g.1523649C>A | CA394225411 | IFT140 | c.3322G>T (p.Val1108Leu) c.904G>T (p.Val302Leu) c.*1760G>T (n.*1760G>T) n.3146G>T c.955G>T (p.Val319Leu) c.3076G>T (p.Val1026Leu) c.2347G>T (p.Val783Leu) c.1507G>T (p.Val503Leu) | gnomAD v4 |
16 | g.1523649C= | CA2201697826 | IFT140 | c.3322G= (p.Val1108=) c.904G= (p.Val302=) c.*1760G= (n.*1760G=) n.3146G= c.955G= (p.Val319=) c.3076G= (p.Val1026=) c.2347G= (p.Val783=) c.1507G= (p.Val503=) | |
16 | g.1523649C>G | CA394225412 | IFT140 | c.3322G>C (p.Val1108Leu) c.904G>C (p.Val302Leu) c.*1760G>C (n.*1760G>C) n.3146G>C c.955G>C (p.Val319Leu) c.3076G>C (p.Val1026Leu) c.2347G>C (p.Val783Leu) c.1507G>C (p.Val503Leu) | |
16 | g.1523649C>T | CA394225413 | IFT140 | c.3322G>A (p.Val1108Met) c.904G>A (p.Val302Met) c.*1760G>A (n.*1760G>A) n.3146G>A c.955G>A (p.Val319Met) c.3076G>A (p.Val1026Met) c.2347G>A (p.Val783Met) c.1507G>A (p.Val503Met) | ClinVar dbSNP |
16 | g.1523650A>C | CA394225414 | IFT140 | c.3321T>G (p.Phe1107Leu) c.903T>G (p.Phe301Leu) c.*1759T>G (n.*1759T>G) n.3145T>G c.954T>G (p.Phe318Leu) c.3075T>G (p.Phe1025Leu) c.2346T>G (p.Phe782Leu) c.1506T>G (p.Phe502Leu) | |
16 | g.1523650A>G | CA493031990 | IFT140 | c.3321T>C (p.Phe1107=) c.903T>C (p.Phe301=) c.*1759T>C (n.*1759T>C) n.3145T>C c.954T>C (p.Phe318=) c.3075T>C (p.Phe1025=) c.2346T>C (p.Phe782=) c.1506T>C (p.Phe502=) | |
16 | g.1523650A>T | CA394225415 | IFT140 | c.3321T>A (p.Phe1107Leu) c.903T>A (p.Phe301Leu) c.*1759T>A (n.*1759T>A) n.3145T>A c.954T>A (p.Phe318Leu) c.3075T>A (p.Phe1025Leu) c.2346T>A (p.Phe782Leu) c.1506T>A (p.Phe502Leu) | |
16 | g.1523650_1523651insCTCTCG | CA2805559215 | IFT140 | c.3320_3321insCGAGAG (p.Phe1107_Val1108insGluSer) c.902_903insCGAGAG (p.Phe301_Val302insGluSer) c.*1758_*1759insCGAGAG (n.*1758_*1759insCGAGAG) n.3144_3145insCGAGAG c.953_954insCGAGAG (p.Phe318_Val319insGluSer) c.3074_3075insCGAGAG (p.Phe1025_Val1026insGluSer) c.2345_2346insCGAGAG (p.Phe782_Val783insGluSer) c.1505_1506insCGAGAG (p.Phe502_Val503insGluSer) | |
16 | g.1523651A= | CA2201697827 | IFT140 | c.3320T= (p.Phe1107=) c.902T= (p.Phe301=) c.*1758T= (n.*1758T=) n.3144T= c.953T= (p.Phe318=) c.3074T= (p.Phe1025=) c.2345T= (p.Phe782=) c.1505T= (p.Phe502=) | |
16 | g.1523651A>C | CA394225416 | IFT140 | c.3320T>G (p.Phe1107Cys) c.902T>G (p.Phe301Cys) c.*1758T>G (n.*1758T>G) n.3144T>G c.953T>G (p.Phe318Cys) c.3074T>G (p.Phe1025Cys) c.2345T>G (p.Phe782Cys) c.1505T>G (p.Phe502Cys) | |
16 | g.1523651A>G | CA276677607 | IFT140 | c.3320T>C (p.Phe1107Ser) c.902T>C (p.Phe301Ser) c.*1758T>C (n.*1758T>C) n.3144T>C c.953T>C (p.Phe318Ser) c.3074T>C (p.Phe1025Ser) c.2345T>C (p.Phe782Ser) c.1505T>C (p.Phe502Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1523651A>T | CA394225417 | IFT140 | c.3320T>A (p.Phe1107Tyr) c.902T>A (p.Phe301Tyr) c.*1758T>A (n.*1758T>A) n.3144T>A c.953T>A (p.Phe318Tyr) c.3074T>A (p.Phe1025Tyr) c.2345T>A (p.Phe782Tyr) c.1505T>A (p.Phe502Tyr) | |
16 | g.1523652A>C | CA394225420 | IFT140 | c.3319T>G (p.Phe1107Val) c.901T>G (p.Phe301Val) c.*1757T>G (n.*1757T>G) n.3143T>G c.952T>G (p.Phe318Val) c.3073T>G (p.Phe1025Val) c.2344T>G (p.Phe782Val) c.1504T>G (p.Phe502Val) | |
16 | g.1523652A>G | CA394225419 | IFT140 | c.3319T>C (p.Phe1107Leu) c.901T>C (p.Phe301Leu) c.*1757T>C (n.*1757T>C) n.3143T>C c.952T>C (p.Phe318Leu) c.3073T>C (p.Phe1025Leu) c.2344T>C (p.Phe782Leu) c.1504T>C (p.Phe502Leu) | |
16 | g.1523652A>T | CA394225418 | IFT140 | c.3319T>A (p.Phe1107Ile) c.901T>A (p.Phe301Ile) c.*1757T>A (n.*1757T>A) n.3143T>A c.952T>A (p.Phe318Ile) c.3073T>A (p.Phe1025Ile) c.2344T>A (p.Phe782Ile) c.1504T>A (p.Phe502Ile) | |
16 | g.1523653C>A | CA394225422 | IFT140 | c.3318G>T (p.Gln1106His) c.900G>T (p.Gln300His) c.*1756G>T (n.*1756G>T) n.3142G>T c.951G>T (p.Gln317His) c.3072G>T (p.Gln1024His) c.2343G>T (p.Gln781His) c.1503G>T (p.Gln501His) | |
16 | g.1523653C= | CA2201697828 | IFT140 | c.3318G= (p.Gln1106=) c.900G= (p.Gln300=) c.*1756G= (n.*1756G=) n.3142G= c.951G= (p.Gln317=) c.3072G= (p.Gln1024=) c.2343G= (p.Gln781=) c.1503G= (p.Gln501=) | |
16 | g.1523653C>G | CA394225421 | IFT140 | c.3318G>C (p.Gln1106His) c.900G>C (p.Gln300His) c.*1756G>C (n.*1756G>C) n.3142G>C c.951G>C (p.Gln317His) c.3072G>C (p.Gln1024His) c.2343G>C (p.Gln781His) c.1503G>C (p.Gln501His) | |
16 | g.1523653C>T | CA493031998 | IFT140 | c.3318G>A (p.Gln1106=) c.900G>A (p.Gln300=) c.*1756G>A (n.*1756G>A) n.3142G>A c.951G>A (p.Gln317=) c.3072G>A (p.Gln1024=) c.2343G>A (p.Gln781=) c.1503G>A (p.Gln501=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.1523654T>A | CA394225425 | IFT140 | c.3317A>T (p.Gln1106Leu) c.899A>T (p.Gln300Leu) c.*1755A>T (n.*1755A>T) n.3141A>T c.950A>T (p.Gln317Leu) c.3071A>T (p.Gln1024Leu) c.2342A>T (p.Gln781Leu) c.1502A>T (p.Gln501Leu) | |
16 | g.1523654T>C | CA394225423 | IFT140 | c.3317A>G (p.Gln1106Arg) c.899A>G (p.Gln300Arg) c.*1755A>G (n.*1755A>G) n.3141A>G c.950A>G (p.Gln317Arg) c.3071A>G (p.Gln1024Arg) c.2342A>G (p.Gln781Arg) c.1502A>G (p.Gln501Arg) | gnomAD v4 |
16 | g.1523654T>G | CA394225424 | IFT140 | c.3317A>C (p.Gln1106Pro) c.899A>C (p.Gln300Pro) c.*1755A>C (n.*1755A>C) n.3141A>C c.950A>C (p.Gln317Pro) c.3071A>C (p.Gln1024Pro) c.2342A>C (p.Gln781Pro) c.1502A>C (p.Gln501Pro) | |
16 | g.1523655G>A | CA394225426 | IFT140 | c.3316C>T (p.Gln1106Ter) c.898C>T (p.Gln300Ter) c.*1754C>T (n.*1754C>T) n.3140C>T c.949C>T (p.Gln317Ter) c.3070C>T (p.Gln1024Ter) c.2341C>T (p.Gln781Ter) c.1501C>T (p.Gln501Ter) | |
16 | g.1523655G>C | CA394225427 | IFT140 | c.3316C>G (p.Gln1106Glu) c.898C>G (p.Gln300Glu) c.*1754C>G (n.*1754C>G) n.3140C>G c.949C>G (p.Gln317Glu) c.3070C>G (p.Gln1024Glu) c.2341C>G (p.Gln781Glu) c.1501C>G (p.Gln501Glu) | |
16 | g.1523655G>T | CA394225428 | IFT140 | c.3316C>A (p.Gln1106Lys) c.898C>A (p.Gln300Lys) c.*1754C>A (n.*1754C>A) n.3140C>A c.949C>A (p.Gln317Lys) c.3070C>A (p.Gln1024Lys) c.2341C>A (p.Gln781Lys) c.1501C>A (p.Gln501Lys) | gnomAD v4 |
16 | g.1523656C>A | CA394225429 | IFT140 | c.3315G>T (p.Gln1105His) c.897G>T (p.Gln299His) c.*1753G>T (n.*1753G>T) n.3139G>T c.948G>T (p.Gln316His) c.3069G>T (p.Gln1023His) c.2340G>T (p.Gln780His) c.1500G>T (p.Gln500His) | |
16 | g.1523656C>G | CA394225430 | IFT140 | c.3315G>C (p.Gln1105His) c.897G>C (p.Gln299His) c.*1753G>C (n.*1753G>C) n.3139G>C c.948G>C (p.Gln316His) c.3069G>C (p.Gln1023His) c.2340G>C (p.Gln780His) c.1500G>C (p.Gln500His) | |
16 | g.1523656C>T | CA493032001 | IFT140 | c.3315G>A (p.Gln1105=) c.897G>A (p.Gln299=) c.*1753G>A (n.*1753G>A) n.3139G>A c.948G>A (p.Gln316=) c.3069G>A (p.Gln1023=) c.2340G>A (p.Gln780=) c.1500G>A (p.Gln500=) | |
16 | g.1523657T>A | CA394225431 | IFT140 | c.3314A>T (p.Gln1105Leu) c.896A>T (p.Gln299Leu) c.*1752A>T (n.*1752A>T) n.3138A>T c.947A>T (p.Gln316Leu) c.3068A>T (p.Gln1023Leu) c.2339A>T (p.Gln780Leu) c.1499A>T (p.Gln500Leu) | |
16 | g.1523657T>C | CA394225432 | IFT140 | c.3314A>G (p.Gln1105Arg) c.896A>G (p.Gln299Arg) c.*1752A>G (n.*1752A>G) n.3138A>G c.947A>G (p.Gln316Arg) c.3068A>G (p.Gln1023Arg) c.2339A>G (p.Gln780Arg) c.1499A>G (p.Gln500Arg) | |
16 | g.1523657T>G | CA394225433 | IFT140 | c.3314A>C (p.Gln1105Pro) c.896A>C (p.Gln299Pro) c.*1752A>C (n.*1752A>C) n.3138A>C c.947A>C (p.Gln316Pro) c.3068A>C (p.Gln1023Pro) c.2339A>C (p.Gln780Pro) c.1499A>C (p.Gln500Pro) | |
16 | g.1523658G>A | CA394225434 | IFT140 | c.3313C>T (p.Gln1105Ter) c.895C>T (p.Gln299Ter) c.*1751C>T (n.*1751C>T) n.3137C>T c.946C>T (p.Gln316Ter) c.3067C>T (p.Gln1023Ter) c.2338C>T (p.Gln780Ter) c.1498C>T (p.Gln500Ter) | ClinVar |
16 | g.1523658G>C | CA394225435 | IFT140 | c.3313C>G (p.Gln1105Glu) c.895C>G (p.Gln299Glu) c.*1751C>G (n.*1751C>G) n.3137C>G c.946C>G (p.Gln316Glu) c.3067C>G (p.Gln1023Glu) c.2338C>G (p.Gln780Glu) c.1498C>G (p.Gln500Glu) | |
16 | g.1523658G>T | CA394225436 | IFT140 | c.3313C>A (p.Gln1105Lys) c.895C>A (p.Gln299Lys) c.*1751C>A (n.*1751C>A) n.3137C>A c.946C>A (p.Gln316Lys) c.3067C>A (p.Gln1023Lys) c.2338C>A (p.Gln780Lys) c.1498C>A (p.Gln500Lys) | |
16 | g.1523659G>A | CA493032005 | IFT140 | c.3312C>T (p.Thr1104=) c.894C>T (p.Thr298=) c.*1750C>T (n.*1750C>T) n.3136C>T c.945C>T (p.Thr315=) c.3066C>T (p.Thr1022=) c.2337C>T (p.Thr779=) c.1497C>T (p.Thr499=) | ClinVar dbSNP gnomAD v4 |
16 | g.1523659G>C | CA493032003 | IFT140 | c.3312C>G (p.Thr1104=) c.894C>G (p.Thr298=) c.*1750C>G (n.*1750C>G) n.3136C>G c.945C>G (p.Thr315=) c.3066C>G (p.Thr1022=) c.2337C>G (p.Thr779=) c.1497C>G (p.Thr499=) | dbSNP |
16 | g.1523659G= | CA2201697829 | IFT140 | c.3312C= (p.Thr1104=) c.894C= (p.Thr298=) c.*1750C= (n.*1750C=) n.3136C= c.945C= (p.Thr315=) c.3066C= (p.Thr1022=) c.2337C= (p.Thr779=) c.1497C= (p.Thr499=) | |
16 | g.1523659G>T | CA493032004 | IFT140 | c.3312C>A (p.Thr1104=) c.894C>A (p.Thr298=) c.*1750C>A (n.*1750C>A) n.3136C>A c.945C>A (p.Thr315=) c.3066C>A (p.Thr1022=) c.2337C>A (p.Thr779=) c.1497C>A (p.Thr499=) | |
16 | g.1523660G>A | CA394225439 | IFT140 | c.3311C>T (p.Thr1104Ile) c.893C>T (p.Thr298Ile) c.*1749C>T (n.*1749C>T) n.3135C>T c.944C>T (p.Thr315Ile) c.3065C>T (p.Thr1022Ile) c.2336C>T (p.Thr779Ile) c.1496C>T (p.Thr499Ile) | COSMIC |
16 | g.1523660G>C | CA394225437 | IFT140 | c.3311C>G (p.Thr1104Ser) c.893C>G (p.Thr298Ser) c.*1749C>G (n.*1749C>G) n.3135C>G c.944C>G (p.Thr315Ser) c.3065C>G (p.Thr1022Ser) c.2336C>G (p.Thr779Ser) c.1496C>G (p.Thr499Ser) | |
16 | g.1523660G>T | CA394225438 | IFT140 | c.3311C>A (p.Thr1104Asn) c.893C>A (p.Thr298Asn) c.*1749C>A (n.*1749C>A) n.3135C>A c.944C>A (p.Thr315Asn) c.3065C>A (p.Thr1022Asn) c.2336C>A (p.Thr779Asn) c.1496C>A (p.Thr499Asn) |