UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.1515634_1521302dup | CA2580613358 | IFT140 | c.3454-488_4182+2588dup c.1036-488_1764+2588dup c.*1892-488_*2620+2588dup n.3278-488_4006+2588dup c.1087-488_1815+2588dup c.3208-488_3936+2588dup c.2479-488_3207+2588dup c.1639-488_2367+2588dup | |
| 16 | g.1519144_1521811delinsG | CA658798459 | IFT140 | c.3454-1003_4040+737delinsC c.1036-1003_1622+737delinsC c.*1892-1003_*2478+737delinsC n.3278-1003_3864+737delinsC c.1087-1003_1673+737delinsC c.3208-1003_3794+737delinsC c.2479-1003_3065+737delinsC c.1639-1003_2225+737delinsC | ClinVar |
| 16 | g.1520682G>A | CA394224856 | IFT140 | c.3580C>T (p.Gln1194Ter) c.1162C>T (p.Gln388Ter) c.*2018C>T (n.*2018C>T) n.3404C>T c.1213C>T (p.Gln405Ter) c.3334C>T (p.Gln1112Ter) c.2605C>T (p.Gln869Ter) c.1765C>T (p.Gln589Ter) | |
| 16 | g.1520682G>C | CA7813109 | IFT140 | c.3580C>G (p.Gln1194Glu) c.1162C>G (p.Gln388Glu) c.*2018C>G (n.*2018C>G) n.3404C>G c.1213C>G (p.Gln405Glu) c.3334C>G (p.Gln1112Glu) c.2605C>G (p.Gln869Glu) c.1765C>G (p.Gln589Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520682G= | CA2201723722 | IFT140 | c.3580C= (p.Gln1194=) c.1162C= (p.Gln388=) c.*2018C= (n.*2018C=) n.3404C= c.1213C= (p.Gln405=) c.3334C= (p.Gln1112=) c.2605C= (p.Gln869=) c.1765C= (p.Gln589=) | |
| 16 | g.1520682G>T | CA394224857 | IFT140 | c.3580C>A (p.Gln1194Lys) c.1162C>A (p.Gln388Lys) c.*2018C>A (n.*2018C>A) n.3404C>A c.1213C>A (p.Gln405Lys) c.3334C>A (p.Gln1112Lys) c.2605C>A (p.Gln869Lys) c.1765C>A (p.Gln589Lys) | |
| 16 | g.1520683C>A | CA394224858 | IFT140 | c.3579G>T (p.Glu1193Asp) c.1161G>T (p.Glu387Asp) c.*2017G>T (n.*2017G>T) n.3403G>T c.1212G>T (p.Glu404Asp) c.3333G>T (p.Glu1111Asp) c.2604G>T (p.Glu868Asp) c.1764G>T (p.Glu588Asp) | |
| 16 | g.1520683C= | CA2201723723 | IFT140 | c.3579G= (p.Glu1193=) c.1161G= (p.Glu387=) c.*2017G= (n.*2017G=) n.3403G= c.1212G= (p.Glu404=) c.3333G= (p.Glu1111=) c.2604G= (p.Glu868=) c.1764G= (p.Glu588=) | |
| 16 | g.1520683C>G | CA394224859 | IFT140 | c.3579G>C (p.Glu1193Asp) c.1161G>C (p.Glu387Asp) c.*2017G>C (n.*2017G>C) n.3403G>C c.1212G>C (p.Glu404Asp) c.3333G>C (p.Glu1111Asp) c.2604G>C (p.Glu868Asp) c.1764G>C (p.Glu588Asp) | gnomAD v4 |
| 16 | g.1520683C>T | CA492931862 | IFT140 | c.3579G>A (p.Glu1193=) c.1161G>A (p.Glu387=) c.*2017G>A (n.*2017G>A) n.3403G>A c.1212G>A (p.Glu404=) c.3333G>A (p.Glu1111=) c.2604G>A (p.Glu868=) c.1764G>A (p.Glu588=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520684T>A | CA394224860 | IFT140 | c.3578A>T (p.Glu1193Val) c.1160A>T (p.Glu387Val) c.*2016A>T (n.*2016A>T) n.3402A>T c.1211A>T (p.Glu404Val) c.3332A>T (p.Glu1111Val) c.2603A>T (p.Glu868Val) c.1763A>T (p.Glu588Val) | |
| 16 | g.1520684T>C | CA394224861 | IFT140 | c.3578A>G (p.Glu1193Gly) c.1160A>G (p.Glu387Gly) c.*2016A>G (n.*2016A>G) n.3402A>G c.1211A>G (p.Glu404Gly) c.3332A>G (p.Glu1111Gly) c.2603A>G (p.Glu868Gly) c.1763A>G (p.Glu588Gly) | dbSNP |
| 16 | g.1520684T>G | CA394224862 | IFT140 | c.3578A>C (p.Glu1193Ala) c.1160A>C (p.Glu387Ala) c.*2016A>C (n.*2016A>C) n.3402A>C c.1211A>C (p.Glu404Ala) c.3332A>C (p.Glu1111Ala) c.2603A>C (p.Glu868Ala) c.1763A>C (p.Glu588Ala) | |
| 16 | g.1520684T= | CA2201723724 | IFT140 | c.3578A= (p.Glu1193=) c.1160A= (p.Glu387=) c.*2016A= (n.*2016A=) n.3402A= c.1211A= (p.Glu404=) c.3332A= (p.Glu1111=) c.2603A= (p.Glu868=) c.1763A= (p.Glu588=) | |
| 16 | g.1520685C>A | CA394224863 | IFT140 | c.3577G>T (p.Glu1193Ter) c.1159G>T (p.Glu387Ter) c.*2015G>T (n.*2015G>T) n.3401G>T c.1210G>T (p.Glu404Ter) c.3331G>T (p.Glu1111Ter) c.2602G>T (p.Glu868Ter) c.1762G>T (p.Glu588Ter) | gnomAD v4 |
| 16 | g.1520685C>G | CA394224864 | IFT140 | c.3577G>C (p.Glu1193Gln) c.1159G>C (p.Glu387Gln) c.*2015G>C (n.*2015G>C) n.3401G>C c.1210G>C (p.Glu404Gln) c.3331G>C (p.Glu1111Gln) c.2602G>C (p.Glu868Gln) c.1762G>C (p.Glu588Gln) | |
| 16 | g.1520685C>T | CA394224865 | IFT140 | c.3577G>A (p.Glu1193Lys) c.1159G>A (p.Glu387Lys) c.*2015G>A (n.*2015G>A) n.3401G>A c.1210G>A (p.Glu404Lys) c.3331G>A (p.Glu1111Lys) c.2602G>A (p.Glu868Lys) c.1762G>A (p.Glu588Lys) | gnomAD v4 |
| 16 | g.1520686C>A | CA492931865 | IFT140 | c.3576G>T (p.Leu1192=) c.1158G>T (p.Leu386=) c.*2014G>T (n.*2014G>T) n.3400G>T c.1209G>T (p.Leu403=) c.3330G>T (p.Leu1110=) c.2601G>T (p.Leu867=) c.1761G>T (p.Leu587=) | |
| 16 | g.1520686C>G | CA492931866 | IFT140 | c.3576G>C (p.Leu1192=) c.1158G>C (p.Leu386=) c.*2014G>C (n.*2014G>C) n.3400G>C c.1209G>C (p.Leu403=) c.3330G>C (p.Leu1110=) c.2601G>C (p.Leu867=) c.1761G>C (p.Leu587=) | |
| 16 | g.1520686C>T | CA492931864 | IFT140 | c.3576G>A (p.Leu1192=) c.1158G>A (p.Leu386=) c.*2014G>A (n.*2014G>A) n.3400G>A c.1209G>A (p.Leu403=) c.3330G>A (p.Leu1110=) c.2601G>A (p.Leu867=) c.1761G>A (p.Leu587=) | ClinVar dbSNP |
| 16 | g.1520687A>C | CA394224868 | IFT140 | c.3575T>G (p.Leu1192Arg) c.1157T>G (p.Leu386Arg) c.*2013T>G (n.*2013T>G) n.3399T>G c.1208T>G (p.Leu403Arg) c.3329T>G (p.Leu1110Arg) c.2600T>G (p.Leu867Arg) c.1760T>G (p.Leu587Arg) | |
| 16 | g.1520687A>G | CA394224867 | IFT140 | c.3575T>C (p.Leu1192Pro) c.1157T>C (p.Leu386Pro) c.*2013T>C (n.*2013T>C) n.3399T>C c.1208T>C (p.Leu403Pro) c.3329T>C (p.Leu1110Pro) c.2600T>C (p.Leu867Pro) c.1760T>C (p.Leu587Pro) | |
| 16 | g.1520687A>T | CA394224866 | IFT140 | c.3575T>A (p.Leu1192Gln) c.1157T>A (p.Leu386Gln) c.*2013T>A (n.*2013T>A) n.3399T>A c.1208T>A (p.Leu403Gln) c.3329T>A (p.Leu1110Gln) c.2600T>A (p.Leu867Gln) c.1760T>A (p.Leu587Gln) | |
| 16 | g.1520688G>A | CA492931867 | IFT140 | c.3574C>T (p.Leu1192=) c.1156C>T (p.Leu386=) c.*2012C>T (n.*2012C>T) n.3398C>T c.1207C>T (p.Leu403=) c.3328C>T (p.Leu1110=) c.2599C>T (p.Leu867=) c.1759C>T (p.Leu587=) | |
| 16 | g.1520688G>C | CA394224869 | IFT140 | c.3574C>G (p.Leu1192Val) c.1156C>G (p.Leu386Val) c.*2012C>G (n.*2012C>G) n.3398C>G c.1207C>G (p.Leu403Val) c.3328C>G (p.Leu1110Val) c.2599C>G (p.Leu867Val) c.1759C>G (p.Leu587Val) | |
| 16 | g.1520688G>T | CA394224870 | IFT140 | c.3574C>A (p.Leu1192Met) c.1156C>A (p.Leu386Met) c.*2012C>A (n.*2012C>A) n.3398C>A c.1207C>A (p.Leu403Met) c.3328C>A (p.Leu1110Met) c.2599C>A (p.Leu867Met) c.1759C>A (p.Leu587Met) | |
| 16 | g.1520689C>A | CA492931873 | IFT140 | c.3573G>T (p.Leu1191=) c.1155G>T (p.Leu385=) c.*2011G>T (n.*2011G>T) n.3397G>T c.1206G>T (p.Leu402=) c.3327G>T (p.Leu1109=) c.2598G>T (p.Leu866=) c.1758G>T (p.Leu586=) | |
| 16 | g.1520689C>G | CA492931872 | IFT140 | c.3573G>C (p.Leu1191=) c.1155G>C (p.Leu385=) c.*2011G>C (n.*2011G>C) n.3397G>C c.1206G>C (p.Leu402=) c.3327G>C (p.Leu1109=) c.2598G>C (p.Leu866=) c.1758G>C (p.Leu586=) | |
| 16 | g.1520689C>T | CA492931871 | IFT140 | c.3573G>A (p.Leu1191=) c.1155G>A (p.Leu385=) c.*2011G>A (n.*2011G>A) n.3397G>A c.1206G>A (p.Leu402=) c.3327G>A (p.Leu1109=) c.2598G>A (p.Leu866=) c.1758G>A (p.Leu586=) | |
| 16 | g.1520690A>C | CA394224871 | IFT140 | c.3572T>G (p.Leu1191Arg) c.1154T>G (p.Leu385Arg) c.*2010T>G (n.*2010T>G) n.3396T>G c.1205T>G (p.Leu402Arg) c.3326T>G (p.Leu1109Arg) c.2597T>G (p.Leu866Arg) c.1757T>G (p.Leu586Arg) | |
| 16 | g.1520690A>G | CA394224872 | IFT140 | c.3572T>C (p.Leu1191Pro) c.1154T>C (p.Leu385Pro) c.*2010T>C (n.*2010T>C) n.3396T>C c.1205T>C (p.Leu402Pro) c.3326T>C (p.Leu1109Pro) c.2597T>C (p.Leu866Pro) c.1757T>C (p.Leu586Pro) | |
| 16 | g.1520690A>T | CA394224873 | IFT140 | c.3572T>A (p.Leu1191Gln) c.1154T>A (p.Leu385Gln) c.*2010T>A (n.*2010T>A) n.3396T>A c.1205T>A (p.Leu402Gln) c.3326T>A (p.Leu1109Gln) c.2597T>A (p.Leu866Gln) c.1757T>A (p.Leu586Gln) | |
| 16 | g.1520691G>A | CA492931874 | IFT140 | c.3571C>T (p.Leu1191=) c.1153C>T (p.Leu385=) c.*2009C>T (n.*2009C>T) n.3395C>T c.1204C>T (p.Leu402=) c.3325C>T (p.Leu1109=) c.2596C>T (p.Leu866=) c.1756C>T (p.Leu586=) | |
| 16 | g.1520691G>C | CA394224874 | IFT140 | c.3571C>G (p.Leu1191Val) c.1153C>G (p.Leu385Val) c.*2009C>G (n.*2009C>G) n.3395C>G c.1204C>G (p.Leu402Val) c.3325C>G (p.Leu1109Val) c.2596C>G (p.Leu866Val) c.1756C>G (p.Leu586Val) | |
| 16 | g.1520691G>T | CA394224875 | IFT140 | c.3571C>A (p.Leu1191Met) c.1153C>A (p.Leu385Met) c.*2009C>A (n.*2009C>A) n.3395C>A c.1204C>A (p.Leu402Met) c.3325C>A (p.Leu1109Met) c.2596C>A (p.Leu866Met) c.1756C>A (p.Leu586Met) | |
| 16 | g.1520692C>A | CA394224876 | IFT140 | c.3570G>T (p.Glu1190Asp) c.1152G>T (p.Glu384Asp) c.*2008G>T (n.*2008G>T) n.3394G>T c.1203G>T (p.Glu401Asp) c.3324G>T (p.Glu1108Asp) c.2595G>T (p.Glu865Asp) c.1755G>T (p.Glu585Asp) | gnomAD v4 |
| 16 | g.1520692C= | CA2201723725 | IFT140 | c.3570G= (p.Glu1190=) c.1152G= (p.Glu384=) c.*2008G= (n.*2008G=) n.3394G= c.1203G= (p.Glu401=) c.3324G= (p.Glu1108=) c.2595G= (p.Glu865=) c.1755G= (p.Glu585=) | |
| 16 | g.1520692C>G | CA394224877 | IFT140 | c.3570G>C (p.Glu1190Asp) c.1152G>C (p.Glu384Asp) c.*2008G>C (n.*2008G>C) n.3394G>C c.1203G>C (p.Glu401Asp) c.3324G>C (p.Glu1108Asp) c.2595G>C (p.Glu865Asp) c.1755G>C (p.Glu585Asp) | |
| 16 | g.1520692C>T | CA492931875 | IFT140 | c.3570G>A (p.Glu1190=) c.1152G>A (p.Glu384=) c.*2008G>A (n.*2008G>A) n.3394G>A c.1203G>A (p.Glu401=) c.3324G>A (p.Glu1108=) c.2595G>A (p.Glu865=) c.1755G>A (p.Glu585=) | dbSNP gnomAD v4 |
| 16 | g.1520693T>A | CA394224878 | IFT140 | c.3569A>T (p.Glu1190Val) c.1151A>T (p.Glu384Val) c.*2007A>T (n.*2007A>T) n.3393A>T c.1202A>T (p.Glu401Val) c.3323A>T (p.Glu1108Val) c.2594A>T (p.Glu865Val) c.1754A>T (p.Glu585Val) | gnomAD v4 |
| 16 | g.1520693T>C | CA394224879 | IFT140 | c.3569A>G (p.Glu1190Gly) c.1151A>G (p.Glu384Gly) c.*2007A>G (n.*2007A>G) n.3393A>G c.1202A>G (p.Glu401Gly) c.3323A>G (p.Glu1108Gly) c.2594A>G (p.Glu865Gly) c.1754A>G (p.Glu585Gly) | |
| 16 | g.1520693T>G | CA394224880 | IFT140 | c.3569A>C (p.Glu1190Ala) c.1151A>C (p.Glu384Ala) c.*2007A>C (n.*2007A>C) n.3393A>C c.1202A>C (p.Glu401Ala) c.3323A>C (p.Glu1108Ala) c.2594A>C (p.Glu865Ala) c.1754A>C (p.Glu585Ala) | |
| 16 | g.1520694C>A | CA394224881 | IFT140 | c.3568G>T (p.Glu1190Ter) c.1150G>T (p.Glu384Ter) c.*2006G>T (n.*2006G>T) n.3392G>T c.1201G>T (p.Glu401Ter) c.3322G>T (p.Glu1108Ter) c.2593G>T (p.Glu865Ter) c.1753G>T (p.Glu585Ter) | |
| 16 | g.1520694C= | CA2201723726 | IFT140 | c.3568G= (p.Glu1190=) c.1150G= (p.Glu384=) c.*2006G= (n.*2006G=) n.3392G= c.1201G= (p.Glu401=) c.3322G= (p.Glu1108=) c.2593G= (p.Glu865=) c.1753G= (p.Glu585=) | |
| 16 | g.1520694C>G | CA394224882 | IFT140 | c.3568G>C (p.Glu1190Gln) c.1150G>C (p.Glu384Gln) c.*2006G>C (n.*2006G>C) n.3392G>C c.1201G>C (p.Glu401Gln) c.3322G>C (p.Glu1108Gln) c.2593G>C (p.Glu865Gln) c.1753G>C (p.Glu585Gln) | |
| 16 | g.1520694C>T | CA7813110 | IFT140 | c.3568G>A (p.Glu1190Lys) c.1150G>A (p.Glu384Lys) c.*2006G>A (n.*2006G>A) n.3392G>A c.1201G>A (p.Glu401Lys) c.3322G>A (p.Glu1108Lys) c.2593G>A (p.Glu865Lys) c.1753G>A (p.Glu585Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520695C>A | CA492931878 | IFT140 | c.3567G>T (p.Arg1189=) c.1149G>T (p.Arg383=) c.*2005G>T (n.*2005G>T) n.3391G>T c.1200G>T (p.Arg400=) c.3321G>T (p.Arg1107=) c.2592G>T (p.Arg864=) c.1752G>T (p.Arg584=) | |
| 16 | g.1520695C>G | CA492931879 | IFT140 | c.3567G>C (p.Arg1189=) c.1149G>C (p.Arg383=) c.*2005G>C (n.*2005G>C) n.3391G>C c.1200G>C (p.Arg400=) c.3321G>C (p.Arg1107=) c.2592G>C (p.Arg864=) c.1752G>C (p.Arg584=) | |
| 16 | g.1520695C>T | CA492931881 | IFT140 | c.3567G>A (p.Arg1189=) c.1149G>A (p.Arg383=) c.*2005G>A (n.*2005G>A) n.3391G>A c.1200G>A (p.Arg400=) c.3321G>A (p.Arg1107=) c.2592G>A (p.Arg864=) c.1752G>A (p.Arg584=) | |
| 16 | g.1520696C>A | CA7813113 | IFT140 | c.3566G>T (p.Arg1189Leu) c.1148G>T (p.Arg383Leu) c.*2004G>T (n.*2004G>T) n.3390G>T c.1199G>T (p.Arg400Leu) c.3320G>T (p.Arg1107Leu) c.2591G>T (p.Arg864Leu) c.1751G>T (p.Arg584Leu) | ClinVar dbSNP ExAC gnomAD v2 |
| 16 | g.1520696C= | CA2201723727 | IFT140 | c.3566G= (p.Arg1189=) c.1148G= (p.Arg383=) c.*2004G= (n.*2004G=) n.3390G= c.1199G= (p.Arg400=) c.3320G= (p.Arg1107=) c.2591G= (p.Arg864=) c.1751G= (p.Arg584=) | |
| 16 | g.1520696C>G | CA7813111 | IFT140 | c.3566G>C (p.Arg1189Pro) c.1148G>C (p.Arg383Pro) c.*2004G>C (n.*2004G>C) n.3390G>C c.1199G>C (p.Arg400Pro) c.3320G>C (p.Arg1107Pro) c.2591G>C (p.Arg864Pro) c.1751G>C (p.Arg584Pro) | dbSNP ExAC gnomAD v4 |
| 16 | g.1520696C>T | CA7813112 | IFT140 | c.3566G>A (p.Arg1189Gln) c.1148G>A (p.Arg383Gln) c.*2004G>A (n.*2004G>A) n.3390G>A c.1199G>A (p.Arg400Gln) c.3320G>A (p.Arg1107Gln) c.2591G>A (p.Arg864Gln) c.1751G>A (p.Arg584Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520697G>A | CA394224883 | IFT140 | c.3565C>T (p.Arg1189Trp) c.1147C>T (p.Arg383Trp) c.*2003C>T (n.*2003C>T) n.3389C>T c.1198C>T (p.Arg400Trp) c.3319C>T (p.Arg1107Trp) c.2590C>T (p.Arg864Trp) c.1750C>T (p.Arg584Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520697G>C | CA394224884 | IFT140 | c.3565C>G (p.Arg1189Gly) c.1147C>G (p.Arg383Gly) c.*2003C>G (n.*2003C>G) n.3389C>G c.1198C>G (p.Arg400Gly) c.3319C>G (p.Arg1107Gly) c.2590C>G (p.Arg864Gly) c.1750C>G (p.Arg584Gly) | |
| 16 | g.1520697G= | CA2201723728 | IFT140 | c.3565C= (p.Arg1189=) c.1147C= (p.Arg383=) c.*2003C= (n.*2003C=) n.3389C= c.1198C= (p.Arg400=) c.3319C= (p.Arg1107=) c.2590C= (p.Arg864=) c.1750C= (p.Arg584=) | |
| 16 | g.1520697G>T | CA7813114 | IFT140 | c.3565C>A (p.Arg1189=) c.1147C>A (p.Arg383=) c.*2003C>A (n.*2003C>A) n.3389C>A c.1198C>A (p.Arg400=) c.3319C>A (p.Arg1107=) c.2590C>A (p.Arg864=) c.1750C>A (p.Arg584=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1520698C>A | CA492931884 | IFT140 | c.3564G>T (p.Arg1188=) c.1146G>T (p.Arg382=) c.*2002G>T (n.*2002G>T) n.3388G>T c.1197G>T (p.Arg399=) c.3318G>T (p.Arg1106=) c.2589G>T (p.Arg863=) c.1749G>T (p.Arg583=) | |
| 16 | g.1520698C>G | CA492931885 | IFT140 | c.3564G>C (p.Arg1188=) c.1146G>C (p.Arg382=) c.*2002G>C (n.*2002G>C) n.3388G>C c.1197G>C (p.Arg399=) c.3318G>C (p.Arg1106=) c.2589G>C (p.Arg863=) c.1749G>C (p.Arg583=) | |
| 16 | g.1520698C>T | CA492931886 | IFT140 | c.3564G>A (p.Arg1188=) c.1146G>A (p.Arg382=) c.*2002G>A (n.*2002G>A) n.3388G>A c.1197G>A (p.Arg399=) c.3318G>A (p.Arg1106=) c.2589G>A (p.Arg863=) c.1749G>A (p.Arg583=) | |
| 16 | g.1520699C>A | CA394224885 | IFT140 | c.3563G>T (p.Arg1188Leu) c.1145G>T (p.Arg382Leu) c.*2001G>T (n.*2001G>T) n.3387G>T c.1196G>T (p.Arg399Leu) c.3317G>T (p.Arg1106Leu) c.2588G>T (p.Arg863Leu) c.1748G>T (p.Arg583Leu) | |
| 16 | g.1520699C= | CA2201723729 | IFT140 | c.3563G= (p.Arg1188=) c.1145G= (p.Arg382=) c.*2001G= (n.*2001G=) n.3387G= c.1196G= (p.Arg399=) c.3317G= (p.Arg1106=) c.2588G= (p.Arg863=) c.1748G= (p.Arg583=) | |
| 16 | g.1520699C>G | CA394224886 | IFT140 | c.3563G>C (p.Arg1188Pro) c.1145G>C (p.Arg382Pro) c.*2001G>C (n.*2001G>C) n.3387G>C c.1196G>C (p.Arg399Pro) c.3317G>C (p.Arg1106Pro) c.2588G>C (p.Arg863Pro) c.1748G>C (p.Arg583Pro) | gnomAD v4 |
| 16 | g.1520699C>T | CA7813115 | IFT140 | c.3563G>A (p.Arg1188Gln) c.1145G>A (p.Arg382Gln) c.*2001G>A (n.*2001G>A) n.3387G>A c.1196G>A (p.Arg399Gln) c.3317G>A (p.Arg1106Gln) c.2588G>A (p.Arg863Gln) c.1748G>A (p.Arg583Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520700G>A | CA7813116 | IFT140 | c.3562C>T (p.Arg1188Trp) c.1144C>T (p.Arg382Trp) c.*2000C>T (n.*2000C>T) n.3386C>T c.1195C>T (p.Arg399Trp) c.3316C>T (p.Arg1106Trp) c.2587C>T (p.Arg863Trp) c.1747C>T (p.Arg583Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.1520700G>C | CA394224887 | IFT140 | c.3562C>G (p.Arg1188Gly) c.1144C>G (p.Arg382Gly) c.*2000C>G (n.*2000C>G) n.3386C>G c.1195C>G (p.Arg399Gly) c.3316C>G (p.Arg1106Gly) c.2587C>G (p.Arg863Gly) c.1747C>G (p.Arg583Gly) | dbSNP |
| 16 | g.1520700G= | CA2201723730 | IFT140 | c.3562C= (p.Arg1188=) c.1144C= (p.Arg382=) c.*2000C= (n.*2000C=) n.3386C= c.1195C= (p.Arg399=) c.3316C= (p.Arg1106=) c.2587C= (p.Arg863=) c.1747C= (p.Arg583=) | |
| 16 | g.1520700G>T | CA492931888 | IFT140 | c.3562C>A (p.Arg1188=) c.1144C>A (p.Arg382=) c.*2000C>A (n.*2000C>A) n.3386C>A c.1195C>A (p.Arg399=) c.3316C>A (p.Arg1106=) c.2587C>A (p.Arg863=) c.1747C>A (p.Arg583=) | ClinVar gnomAD v4 |
| 16 | g.1520701C>A | CA492931889 | IFT140 | c.3561G>T (p.Ser1187=) c.1143G>T (p.Ser381=) c.*1999G>T (n.*1999G>T) n.3385G>T c.1194G>T (p.Ser398=) c.3315G>T (p.Ser1105=) c.2586G>T (p.Ser862=) c.1746G>T (p.Ser582=) | |
| 16 | g.1520701C= | CA2201723731 | IFT140 | c.3561G= (p.Ser1187=) c.1143G= (p.Ser381=) c.*1999G= (n.*1999G=) n.3385G= c.1194G= (p.Ser398=) c.3315G= (p.Ser1105=) c.2586G= (p.Ser862=) c.1746G= (p.Ser582=) | |
| 16 | g.1520701C>G | CA7813118 | IFT140 | c.3561G>C (p.Ser1187=) c.1143G>C (p.Ser381=) c.*1999G>C (n.*1999G>C) n.3385G>C c.1194G>C (p.Ser398=) c.3315G>C (p.Ser1105=) c.2586G>C (p.Ser862=) c.1746G>C (p.Ser582=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520701C>T | CA7813117 | IFT140 | c.3561G>A (p.Ser1187=) c.1143G>A (p.Ser381=) c.*1999G>A (n.*1999G>A) n.3385G>A c.1194G>A (p.Ser398=) c.3315G>A (p.Ser1105=) c.2586G>A (p.Ser862=) c.1746G>A (p.Ser582=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520702G>A | CA276675952 | IFT140 | c.3560C>T (p.Ser1187Leu) c.1142C>T (p.Ser381Leu) c.*1998C>T (n.*1998C>T) n.3384C>T c.1193C>T (p.Ser398Leu) c.3314C>T (p.Ser1105Leu) c.2585C>T (p.Ser862Leu) c.1745C>T (p.Ser582Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520702G>C | CA394224888 | IFT140 | c.3560C>G (p.Ser1187Trp) c.1142C>G (p.Ser381Trp) c.*1998C>G (n.*1998C>G) n.3384C>G c.1193C>G (p.Ser398Trp) c.3314C>G (p.Ser1105Trp) c.2585C>G (p.Ser862Trp) c.1745C>G (p.Ser582Trp) | |
| 16 | g.1520702G= | CA2201723732 | IFT140 | c.3560C= (p.Ser1187=) c.1142C= (p.Ser381=) c.*1998C= (n.*1998C=) n.3384C= c.1193C= (p.Ser398=) c.3314C= (p.Ser1105=) c.2585C= (p.Ser862=) c.1745C= (p.Ser582=) | |
| 16 | g.1520702G>T | CA394224889 | IFT140 | c.3560C>A (p.Ser1187Ter) c.1142C>A (p.Ser381Ter) c.*1998C>A (n.*1998C>A) n.3384C>A c.1193C>A (p.Ser398Ter) c.3314C>A (p.Ser1105Ter) c.2585C>A (p.Ser862Ter) c.1745C>A (p.Ser582Ter) | |
| 16 | g.1520703A>C | CA394224890 | IFT140 | c.3559T>G (p.Ser1187Ala) c.1141T>G (p.Ser381Ala) c.*1997T>G (n.*1997T>G) n.3383T>G c.1192T>G (p.Ser398Ala) c.3313T>G (p.Ser1105Ala) c.2584T>G (p.Ser862Ala) c.1744T>G (p.Ser582Ala) | |
| 16 | g.1520703A>G | CA394224891 | IFT140 | c.3559T>C (p.Ser1187Pro) c.1141T>C (p.Ser381Pro) c.*1997T>C (n.*1997T>C) n.3383T>C c.1192T>C (p.Ser398Pro) c.3313T>C (p.Ser1105Pro) c.2584T>C (p.Ser862Pro) c.1744T>C (p.Ser582Pro) | |
| 16 | g.1520703A>T | CA394224892 | IFT140 | c.3559T>A (p.Ser1187Thr) c.1141T>A (p.Ser381Thr) c.*1997T>A (n.*1997T>A) n.3383T>A c.1192T>A (p.Ser398Thr) c.3313T>A (p.Ser1105Thr) c.2584T>A (p.Ser862Thr) c.1744T>A (p.Ser582Thr) | |
| 16 | g.1520704C>A | CA394224893 | IFT140 | c.3558G>T (p.Glu1186Asp) c.1140G>T (p.Glu380Asp) c.*1996G>T (n.*1996G>T) n.3382G>T c.1191G>T (p.Glu397Asp) c.3312G>T (p.Glu1104Asp) c.2583G>T (p.Glu861Asp) c.1743G>T (p.Glu581Asp) | |
| 16 | g.1520704C= | CA2201723733 | IFT140 | c.3558G= (p.Glu1186=) c.1140G= (p.Glu380=) c.*1996G= (n.*1996G=) n.3382G= c.1191G= (p.Glu397=) c.3312G= (p.Glu1104=) c.2583G= (p.Glu861=) c.1743G= (p.Glu581=) | |
| 16 | g.1520704C>G | CA394224894 | IFT140 | c.3558G>C (p.Glu1186Asp) c.1140G>C (p.Glu380Asp) c.*1996G>C (n.*1996G>C) n.3382G>C c.1191G>C (p.Glu397Asp) c.3312G>C (p.Glu1104Asp) c.2583G>C (p.Glu861Asp) c.1743G>C (p.Glu581Asp) | |
| 16 | g.1520704C>T | CA7813119 | IFT140 | c.3558G>A (p.Glu1186=) c.1140G>A (p.Glu380=) c.*1996G>A (n.*1996G>A) n.3382G>A c.1191G>A (p.Glu397=) c.3312G>A (p.Glu1104=) c.2583G>A (p.Glu861=) c.1743G>A (p.Glu581=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520705T>A | CA394224895 | IFT140 | c.3557A>T (p.Glu1186Val) c.1139A>T (p.Glu380Val) c.*1995A>T (n.*1995A>T) n.3381A>T c.1190A>T (p.Glu397Val) c.3311A>T (p.Glu1104Val) c.2582A>T (p.Glu861Val) c.1742A>T (p.Glu581Val) | |
| 16 | g.1520705T>C | CA394224896 | IFT140 | c.3557A>G (p.Glu1186Gly) c.1139A>G (p.Glu380Gly) c.*1995A>G (n.*1995A>G) n.3381A>G c.1190A>G (p.Glu397Gly) c.3311A>G (p.Glu1104Gly) c.2582A>G (p.Glu861Gly) c.1742A>G (p.Glu581Gly) | |
| 16 | g.1520705T>G | CA394224897 | IFT140 | c.3557A>C (p.Glu1186Ala) c.1139A>C (p.Glu380Ala) c.*1995A>C (n.*1995A>C) n.3381A>C c.1190A>C (p.Glu397Ala) c.3311A>C (p.Glu1104Ala) c.2582A>C (p.Glu861Ala) c.1742A>C (p.Glu581Ala) | |
| 16 | g.1520706C>A | CA394224898 | IFT140 | c.3556G>T (p.Glu1186Ter) c.1138G>T (p.Glu380Ter) c.*1994G>T (n.*1994G>T) n.3380G>T c.1189G>T (p.Glu397Ter) c.3310G>T (p.Glu1104Ter) c.2581G>T (p.Glu861Ter) c.1741G>T (p.Glu581Ter) | |
| 16 | g.1520706C>G | CA394224899 | IFT140 | c.3556G>C (p.Glu1186Gln) c.1138G>C (p.Glu380Gln) c.*1994G>C (n.*1994G>C) n.3380G>C c.1189G>C (p.Glu397Gln) c.3310G>C (p.Glu1104Gln) c.2581G>C (p.Glu861Gln) c.1741G>C (p.Glu581Gln) | |
| 16 | g.1520706C>T | CA394224900 | IFT140 | c.3556G>A (p.Glu1186Lys) c.1138G>A (p.Glu380Lys) c.*1994G>A (n.*1994G>A) n.3380G>A c.1189G>A (p.Glu397Lys) c.3310G>A (p.Glu1104Lys) c.2581G>A (p.Glu861Lys) c.1741G>A (p.Glu581Lys) | |
| 16 | g.1520707C>A | CA394224902 | IFT140 | c.3555G>T (p.Glu1185Asp) c.1137G>T (p.Glu379Asp) c.*1993G>T (n.*1993G>T) n.3379G>T c.1188G>T (p.Glu396Asp) c.3309G>T (p.Glu1103Asp) c.2580G>T (p.Glu860Asp) c.1740G>T (p.Glu580Asp) | |
| 16 | g.1520707C= | CA2201723734 | IFT140 | c.3555G= (p.Glu1185=) c.1137G= (p.Glu379=) c.*1993G= (n.*1993G=) n.3379G= c.1188G= (p.Glu396=) c.3309G= (p.Glu1103=) c.2580G= (p.Glu860=) c.1740G= (p.Glu580=) | |
| 16 | g.1520707C>G | CA394224901 | IFT140 | c.3555G>C (p.Glu1185Asp) c.1137G>C (p.Glu379Asp) c.*1993G>C (n.*1993G>C) n.3379G>C c.1188G>C (p.Glu396Asp) c.3309G>C (p.Glu1103Asp) c.2580G>C (p.Glu860Asp) c.1740G>C (p.Glu580Asp) | |
| 16 | g.1520707C>T | CA492931895 | IFT140 | c.3555G>A (p.Glu1185=) c.1137G>A (p.Glu379=) c.*1993G>A (n.*1993G>A) n.3379G>A c.1188G>A (p.Glu396=) c.3309G>A (p.Glu1103=) c.2580G>A (p.Glu860=) c.1740G>A (p.Glu580=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520708T>A | CA394224903 | IFT140 | c.3554A>T (p.Glu1185Val) c.1136A>T (p.Glu379Val) c.*1992A>T (n.*1992A>T) n.3378A>T c.1187A>T (p.Glu396Val) c.3308A>T (p.Glu1103Val) c.2579A>T (p.Glu860Val) c.1739A>T (p.Glu580Val) | |
| 16 | g.1520708T>C | CA394224904 | IFT140 | c.3554A>G (p.Glu1185Gly) c.1136A>G (p.Glu379Gly) c.*1992A>G (n.*1992A>G) n.3378A>G c.1187A>G (p.Glu396Gly) c.3308A>G (p.Glu1103Gly) c.2579A>G (p.Glu860Gly) c.1739A>G (p.Glu580Gly) | |
| 16 | g.1520708T>G | CA394224905 | IFT140 | c.3554A>C (p.Glu1185Ala) c.1136A>C (p.Glu379Ala) c.*1992A>C (n.*1992A>C) n.3378A>C c.1187A>C (p.Glu396Ala) c.3308A>C (p.Glu1103Ala) c.2579A>C (p.Glu860Ala) c.1739A>C (p.Glu580Ala) | |
| 16 | g.1520709C>A | CA394224906 | IFT140 | c.3553G>T (p.Glu1185Ter) c.1135G>T (p.Glu379Ter) c.*1991G>T (n.*1991G>T) n.3377G>T c.1186G>T (p.Glu396Ter) c.3307G>T (p.Glu1103Ter) c.2578G>T (p.Glu860Ter) c.1738G>T (p.Glu580Ter) | |
| 16 | g.1520709C>G | CA394224907 | IFT140 | c.3553G>C (p.Glu1185Gln) c.1135G>C (p.Glu379Gln) c.*1991G>C (n.*1991G>C) n.3377G>C c.1186G>C (p.Glu396Gln) c.3307G>C (p.Glu1103Gln) c.2578G>C (p.Glu860Gln) c.1738G>C (p.Glu580Gln) | |
| 16 | g.1520709C>T | CA394224908 | IFT140 | c.3553G>A (p.Glu1185Lys) c.1135G>A (p.Glu379Lys) c.*1991G>A (n.*1991G>A) n.3377G>A c.1186G>A (p.Glu396Lys) c.3307G>A (p.Glu1103Lys) c.2578G>A (p.Glu860Lys) c.1738G>A (p.Glu580Lys) | |
| 16 | g.1520710A= | CA2201723735 | IFT140 | c.3552T= (p.Pro1184=) c.1134T= (p.Pro378=) c.*1990T= (n.*1990T=) n.3376T= c.1185T= (p.Pro395=) c.3306T= (p.Pro1102=) c.2577T= (p.Pro859=) c.1737T= (p.Pro579=) | |
| 16 | g.1520710A>C | CA492931896 | IFT140 | c.3552T>G (p.Pro1184=) c.1134T>G (p.Pro378=) c.*1990T>G (n.*1990T>G) n.3376T>G c.1185T>G (p.Pro395=) c.3306T>G (p.Pro1102=) c.2577T>G (p.Pro859=) c.1737T>G (p.Pro579=) | dbSNP |
| 16 | g.1520710A>G | CA7813120 | IFT140 | c.3552T>C (p.Pro1184=) c.1134T>C (p.Pro378=) c.*1990T>C (n.*1990T>C) n.3376T>C c.1185T>C (p.Pro395=) c.3306T>C (p.Pro1102=) c.2577T>C (p.Pro859=) c.1737T>C (p.Pro579=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520710A>T | CA492931897 | IFT140 | c.3552T>A (p.Pro1184=) c.1134T>A (p.Pro378=) c.*1990T>A (n.*1990T>A) n.3376T>A c.1185T>A (p.Pro395=) c.3306T>A (p.Pro1102=) c.2577T>A (p.Pro859=) c.1737T>A (p.Pro579=) | |
| 16 | g.1520711G>A | CA394224909 | IFT140 | c.3551C>T (p.Pro1184Leu) c.1133C>T (p.Pro378Leu) c.*1989C>T (n.*1989C>T) n.3375C>T c.1184C>T (p.Pro395Leu) c.3305C>T (p.Pro1102Leu) c.2576C>T (p.Pro859Leu) c.1736C>T (p.Pro579Leu) | |
| 16 | g.1520711G>C | CA394224910 | IFT140 | c.3551C>G (p.Pro1184Arg) c.1133C>G (p.Pro378Arg) c.*1989C>G (n.*1989C>G) n.3375C>G c.1184C>G (p.Pro395Arg) c.3305C>G (p.Pro1102Arg) c.2576C>G (p.Pro859Arg) c.1736C>G (p.Pro579Arg) | gnomAD v4 |
| 16 | g.1520711G>T | CA394224911 | IFT140 | c.3551C>A (p.Pro1184His) c.1133C>A (p.Pro378His) c.*1989C>A (n.*1989C>A) n.3375C>A c.1184C>A (p.Pro395His) c.3305C>A (p.Pro1102His) c.2576C>A (p.Pro859His) c.1736C>A (p.Pro579His) | |
| 16 | g.1520712G>A | CA7813121 | IFT140 | c.3550C>T (p.Pro1184Ser) c.1132C>T (p.Pro378Ser) c.*1988C>T (n.*1988C>T) n.3374C>T c.1183C>T (p.Pro395Ser) c.3304C>T (p.Pro1102Ser) c.2575C>T (p.Pro859Ser) c.1735C>T (p.Pro579Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1520712G>C | CA394224912 | IFT140 | c.3550C>G (p.Pro1184Ala) c.1132C>G (p.Pro378Ala) c.*1988C>G (n.*1988C>G) n.3374C>G c.1183C>G (p.Pro395Ala) c.3304C>G (p.Pro1102Ala) c.2575C>G (p.Pro859Ala) c.1735C>G (p.Pro579Ala) | |
| 16 | g.1520712G= | CA2201723736 | IFT140 | c.3550C= (p.Pro1184=) c.1132C= (p.Pro378=) c.*1988C= (n.*1988C=) n.3374C= c.1183C= (p.Pro395=) c.3304C= (p.Pro1102=) c.2575C= (p.Pro859=) c.1735C= (p.Pro579=) | |
| 16 | g.1520712G>T | CA394224913 | IFT140 | c.3550C>A (p.Pro1184Thr) c.1132C>A (p.Pro378Thr) c.*1988C>A (n.*1988C>A) n.3374C>A c.1183C>A (p.Pro395Thr) c.3304C>A (p.Pro1102Thr) c.2575C>A (p.Pro859Thr) c.1735C>A (p.Pro579Thr) | gnomAD v4 |
| 16 | g.1520713C>A | CA492931899 | IFT140 | c.3549G>T (p.Leu1183=) c.1131G>T (p.Leu377=) c.*1987G>T (n.*1987G>T) n.3373G>T c.1182G>T (p.Leu394=) c.3303G>T (p.Leu1101=) c.2574G>T (p.Leu858=) c.1734G>T (p.Leu578=) | |
| 16 | g.1520713C= | CA2201723737 | IFT140 | c.3549G= (p.Leu1183=) c.1131G= (p.Leu377=) c.*1987G= (n.*1987G=) n.3373G= c.1182G= (p.Leu394=) c.3303G= (p.Leu1101=) c.2574G= (p.Leu858=) c.1734G= (p.Leu578=) | |
| 16 | g.1520713C>G | CA492931900 | IFT140 | c.3549G>C (p.Leu1183=) c.1131G>C (p.Leu377=) c.*1987G>C (n.*1987G>C) n.3373G>C c.1182G>C (p.Leu394=) c.3303G>C (p.Leu1101=) c.2574G>C (p.Leu858=) c.1734G>C (p.Leu578=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520713C>T | CA492931901 | IFT140 | c.3549G>A (p.Leu1183=) c.1131G>A (p.Leu377=) c.*1987G>A (n.*1987G>A) n.3373G>A c.1182G>A (p.Leu394=) c.3303G>A (p.Leu1101=) c.2574G>A (p.Leu858=) c.1734G>A (p.Leu578=) | gnomAD v4 |
| 16 | g.1520714A>C | CA394224915 | IFT140 | c.3548T>G (p.Leu1183Arg) c.1130T>G (p.Leu377Arg) c.*1986T>G (n.*1986T>G) n.3372T>G c.1181T>G (p.Leu394Arg) c.3302T>G (p.Leu1101Arg) c.2573T>G (p.Leu858Arg) c.1733T>G (p.Leu578Arg) | |
| 16 | g.1520714A>G | CA394224916 | IFT140 | c.3548T>C (p.Leu1183Pro) c.1130T>C (p.Leu377Pro) c.*1986T>C (n.*1986T>C) n.3372T>C c.1181T>C (p.Leu394Pro) c.3302T>C (p.Leu1101Pro) c.2573T>C (p.Leu858Pro) c.1733T>C (p.Leu578Pro) | |
| 16 | g.1520714A>T | CA394224914 | IFT140 | c.3548T>A (p.Leu1183Gln) c.1130T>A (p.Leu377Gln) c.*1986T>A (n.*1986T>A) n.3372T>A c.1181T>A (p.Leu394Gln) c.3302T>A (p.Leu1101Gln) c.2573T>A (p.Leu858Gln) c.1733T>A (p.Leu578Gln) | |
| 16 | g.1520715G>A | CA492931902 | IFT140 | c.3547C>T (p.Leu1183=) c.1129C>T (p.Leu377=) c.*1985C>T (n.*1985C>T) n.3371C>T c.1180C>T (p.Leu394=) c.3301C>T (p.Leu1101=) c.2572C>T (p.Leu858=) c.1732C>T (p.Leu578=) | |
| 16 | g.1520715G>C | CA394224917 | IFT140 | c.3547C>G (p.Leu1183Val) c.1129C>G (p.Leu377Val) c.*1985C>G (n.*1985C>G) n.3371C>G c.1180C>G (p.Leu394Val) c.3301C>G (p.Leu1101Val) c.2572C>G (p.Leu858Val) c.1732C>G (p.Leu578Val) | |
| 16 | g.1520715G>T | CA394224918 | IFT140 | c.3547C>A (p.Leu1183Met) c.1129C>A (p.Leu377Met) c.*1985C>A (n.*1985C>A) n.3371C>A c.1180C>A (p.Leu394Met) c.3301C>A (p.Leu1101Met) c.2572C>A (p.Leu858Met) c.1732C>A (p.Leu578Met) | |
| 16 | g.1520716G>A | CA492931903 | IFT140 | c.3546C>T (p.Asp1182=) c.1128C>T (p.Asp376=) c.*1984C>T (n.*1984C>T) n.3370C>T c.1179C>T (p.Asp393=) c.3300C>T (p.Asp1100=) c.2571C>T (p.Asp857=) c.1731C>T (p.Asp577=) | |
| 16 | g.1520716G>C | CA394224919 | IFT140 | c.3546C>G (p.Asp1182Glu) c.1128C>G (p.Asp376Glu) c.*1984C>G (n.*1984C>G) n.3370C>G c.1179C>G (p.Asp393Glu) c.3300C>G (p.Asp1100Glu) c.2571C>G (p.Asp857Glu) c.1731C>G (p.Asp577Glu) | gnomAD v4 |
| 16 | g.1520716G>T | CA394224920 | IFT140 | c.3546C>A (p.Asp1182Glu) c.1128C>A (p.Asp376Glu) c.*1984C>A (n.*1984C>A) n.3370C>A c.1179C>A (p.Asp393Glu) c.3300C>A (p.Asp1100Glu) c.2571C>A (p.Asp857Glu) c.1731C>A (p.Asp577Glu) | |
| 16 | g.1520717T>A | CA394224923 | IFT140 | c.3545A>T (p.Asp1182Val) c.1127A>T (p.Asp376Val) c.*1983A>T (n.*1983A>T) n.3369A>T c.1178A>T (p.Asp393Val) c.3299A>T (p.Asp1100Val) c.2570A>T (p.Asp857Val) c.1730A>T (p.Asp577Val) | |
| 16 | g.1520717T>C | CA394224922 | IFT140 | c.3545A>G (p.Asp1182Gly) c.1127A>G (p.Asp376Gly) c.*1983A>G (n.*1983A>G) n.3369A>G c.1178A>G (p.Asp393Gly) c.3299A>G (p.Asp1100Gly) c.2570A>G (p.Asp857Gly) c.1730A>G (p.Asp577Gly) | |
| 16 | g.1520717T>G | CA394224921 | IFT140 | c.3545A>C (p.Asp1182Ala) c.1127A>C (p.Asp376Ala) c.*1983A>C (n.*1983A>C) n.3369A>C c.1178A>C (p.Asp393Ala) c.3299A>C (p.Asp1100Ala) c.2570A>C (p.Asp857Ala) c.1730A>C (p.Asp577Ala) | dbSNP |
| 16 | g.1520717T= | CA2201723738 | IFT140 | c.3545A= (p.Asp1182=) c.1127A= (p.Asp376=) c.*1983A= (n.*1983A=) n.3369A= c.1178A= (p.Asp393=) c.3299A= (p.Asp1100=) c.2570A= (p.Asp857=) c.1730A= (p.Asp577=) | |
| 16 | g.1520718C>A | CA394224924 | IFT140 | c.3544G>T (p.Asp1182Tyr) c.1126G>T (p.Asp376Tyr) c.*1982G>T (n.*1982G>T) n.3368G>T c.1177G>T (p.Asp393Tyr) c.3298G>T (p.Asp1100Tyr) c.2569G>T (p.Asp857Tyr) c.1729G>T (p.Asp577Tyr) | |
| 16 | g.1520718C>G | CA394224925 | IFT140 | c.3544G>C (p.Asp1182His) c.1126G>C (p.Asp376His) c.*1982G>C (n.*1982G>C) n.3368G>C c.1177G>C (p.Asp393His) c.3298G>C (p.Asp1100His) c.2569G>C (p.Asp857His) c.1729G>C (p.Asp577His) | |
| 16 | g.1520718C>T | CA394224926 | IFT140 | c.3544G>A (p.Asp1182Asn) c.1126G>A (p.Asp376Asn) c.*1982G>A (n.*1982G>A) n.3368G>A c.1177G>A (p.Asp393Asn) c.3298G>A (p.Asp1100Asn) c.2569G>A (p.Asp857Asn) c.1729G>A (p.Asp577Asn) | |
| 16 | g.1520719C>A | CA492931904 | IFT140 | c.3543G>T (p.Ser1181=) c.1125G>T (p.Ser375=) c.*1981G>T (n.*1981G>T) n.3367G>T c.1176G>T (p.Ser392=) c.3297G>T (p.Ser1099=) c.2568G>T (p.Ser856=) c.1728G>T (p.Ser576=) | |
| 16 | g.1520719C= | CA2201723739 | IFT140 | c.3543G= (p.Ser1181=) c.1125G= (p.Ser375=) c.*1981G= (n.*1981G=) n.3367G= c.1176G= (p.Ser392=) c.3297G= (p.Ser1099=) c.2568G= (p.Ser856=) c.1728G= (p.Ser576=) | |
| 16 | g.1520719C>G | CA492931905 | IFT140 | c.3543G>C (p.Ser1181=) c.1125G>C (p.Ser375=) c.*1981G>C (n.*1981G>C) n.3367G>C c.1176G>C (p.Ser392=) c.3297G>C (p.Ser1099=) c.2568G>C (p.Ser856=) c.1728G>C (p.Ser576=) | ClinVar |
| 16 | g.1520719C>T | CA7813122 | IFT140 | c.3543G>A (p.Ser1181=) c.1125G>A (p.Ser375=) c.*1981G>A (n.*1981G>A) n.3367G>A c.1176G>A (p.Ser392=) c.3297G>A (p.Ser1099=) c.2568G>A (p.Ser856=) c.1728G>A (p.Ser576=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520720G>A | CA7813123 | IFT140 | c.3542C>T (p.Ser1181Leu) c.1124C>T (p.Ser375Leu) c.*1980C>T (n.*1980C>T) n.3366C>T c.1175C>T (p.Ser392Leu) c.3296C>T (p.Ser1099Leu) c.2567C>T (p.Ser856Leu) c.1727C>T (p.Ser576Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520720G>C | CA394224927 | IFT140 | c.3542C>G (p.Ser1181Trp) c.1124C>G (p.Ser375Trp) c.*1980C>G (n.*1980C>G) n.3366C>G c.1175C>G (p.Ser392Trp) c.3296C>G (p.Ser1099Trp) c.2567C>G (p.Ser856Trp) c.1727C>G (p.Ser576Trp) | |
| 16 | g.1520720G= | CA2201723740 | IFT140 | c.3542C= (p.Ser1181=) c.1124C= (p.Ser375=) c.*1980C= (n.*1980C=) n.3366C= c.1175C= (p.Ser392=) c.3296C= (p.Ser1099=) c.2567C= (p.Ser856=) c.1727C= (p.Ser576=) | |
| 16 | g.1520720G>T | CA394224928 | IFT140 | c.3542C>A (p.Ser1181Ter) c.1124C>A (p.Ser375Ter) c.*1980C>A (n.*1980C>A) n.3366C>A c.1175C>A (p.Ser392Ter) c.3296C>A (p.Ser1099Ter) c.2567C>A (p.Ser856Ter) c.1727C>A (p.Ser576Ter) | |
| 16 | g.1520721A= | CA2201723741 | IFT140 | c.3541T= (p.Ser1181=) c.1123T= (p.Ser375=) c.*1979T= (n.*1979T=) n.3365T= c.1174T= (p.Ser392=) c.3295T= (p.Ser1099=) c.2566T= (p.Ser856=) c.1726T= (p.Ser576=) | |
| 16 | g.1520721A>C | CA394224930 | IFT140 | c.3541T>G (p.Ser1181Ala) c.1123T>G (p.Ser375Ala) c.*1979T>G (n.*1979T>G) n.3365T>G c.1174T>G (p.Ser392Ala) c.3295T>G (p.Ser1099Ala) c.2566T>G (p.Ser856Ala) c.1726T>G (p.Ser576Ala) | |
| 16 | g.1520721A>G | CA394224931 | IFT140 | c.3541T>C (p.Ser1181Pro) c.1123T>C (p.Ser375Pro) c.*1979T>C (n.*1979T>C) n.3365T>C c.1174T>C (p.Ser392Pro) c.3295T>C (p.Ser1099Pro) c.2566T>C (p.Ser856Pro) c.1726T>C (p.Ser576Pro) | dbSNP |
| 16 | g.1520721A>T | CA394224929 | IFT140 | c.3541T>A (p.Ser1181Thr) c.1123T>A (p.Ser375Thr) c.*1979T>A (n.*1979T>A) n.3365T>A c.1174T>A (p.Ser392Thr) c.3295T>A (p.Ser1099Thr) c.2566T>A (p.Ser856Thr) c.1726T>A (p.Ser576Thr) | |
| 16 | g.1520722G>A | CA492931906 | IFT140 | c.3540C>T (p.Ser1180=) c.1122C>T (p.Ser374=) c.*1978C>T (n.*1978C>T) n.3364C>T c.1173C>T (p.Ser391=) c.3294C>T (p.Ser1098=) c.2565C>T (p.Ser855=) c.1725C>T (p.Ser575=) | |
| 16 | g.1520722G>C | CA492931907 | IFT140 | c.3540C>G (p.Ser1180=) c.1122C>G (p.Ser374=) c.*1978C>G (n.*1978C>G) n.3364C>G c.1173C>G (p.Ser391=) c.3294C>G (p.Ser1098=) c.2565C>G (p.Ser855=) c.1725C>G (p.Ser575=) | |
| 16 | g.1520722G= | CA2201723742 | IFT140 | c.3540C= (p.Ser1180=) c.1122C= (p.Ser374=) c.*1978C= (n.*1978C=) n.3364C= c.1173C= (p.Ser391=) c.3294C= (p.Ser1098=) c.2565C= (p.Ser855=) c.1725C= (p.Ser575=) | |
| 16 | g.1520722G>T | CA492931908 | IFT140 | c.3540C>A (p.Ser1180=) c.1122C>A (p.Ser374=) c.*1978C>A (n.*1978C>A) n.3364C>A c.1173C>A (p.Ser391=) c.3294C>A (p.Ser1098=) c.2565C>A (p.Ser855=) c.1725C>A (p.Ser575=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520723G>A | CA394224933 | IFT140 | c.3539C>T (p.Ser1180Phe) c.1121C>T (p.Ser374Phe) c.*1977C>T (n.*1977C>T) n.3363C>T c.1172C>T (p.Ser391Phe) c.3293C>T (p.Ser1098Phe) c.2564C>T (p.Ser855Phe) c.1724C>T (p.Ser575Phe) | gnomAD v4 COSMIC |
| 16 | g.1520723G>C | CA394224932 | IFT140 | c.3539C>G (p.Ser1180Cys) c.1121C>G (p.Ser374Cys) c.*1977C>G (n.*1977C>G) n.3363C>G c.1172C>G (p.Ser391Cys) c.3293C>G (p.Ser1098Cys) c.2564C>G (p.Ser855Cys) c.1724C>G (p.Ser575Cys) | |
| 16 | g.1520723G>T | CA394224934 | IFT140 | c.3539C>A (p.Ser1180Tyr) c.1121C>A (p.Ser374Tyr) c.*1977C>A (n.*1977C>A) n.3363C>A c.1172C>A (p.Ser391Tyr) c.3293C>A (p.Ser1098Tyr) c.2564C>A (p.Ser855Tyr) c.1724C>A (p.Ser575Tyr) | |
| 16 | g.1520724A>C | CA394224935 | IFT140 | c.3538T>G (p.Ser1180Ala) c.1120T>G (p.Ser374Ala) c.*1976T>G (n.*1976T>G) n.3362T>G c.1171T>G (p.Ser391Ala) c.3292T>G (p.Ser1098Ala) c.2563T>G (p.Ser855Ala) c.1723T>G (p.Ser575Ala) | |
| 16 | g.1520724A>G | CA394224936 | IFT140 | c.3538T>C (p.Ser1180Pro) c.1120T>C (p.Ser374Pro) c.*1976T>C (n.*1976T>C) n.3362T>C c.1171T>C (p.Ser391Pro) c.3292T>C (p.Ser1098Pro) c.2563T>C (p.Ser855Pro) c.1723T>C (p.Ser575Pro) | |
| 16 | g.1520724A>T | CA394224937 | IFT140 | c.3538T>A (p.Ser1180Thr) c.1120T>A (p.Ser374Thr) c.*1976T>A (n.*1976T>A) n.3362T>A c.1171T>A (p.Ser391Thr) c.3292T>A (p.Ser1098Thr) c.2563T>A (p.Ser855Thr) c.1723T>A (p.Ser575Thr) | |
| 16 | g.1520725G>A | CA492931909 | IFT140 | c.3537C>T (p.Asp1179=) c.1119C>T (p.Asp373=) c.*1975C>T (n.*1975C>T) n.3361C>T c.1170C>T (p.Asp390=) c.3291C>T (p.Asp1097=) c.2562C>T (p.Asp854=) c.1722C>T (p.Asp574=) | |
| 16 | g.1520725G>C | CA394224938 | IFT140 | c.3537C>G (p.Asp1179Glu) c.1119C>G (p.Asp373Glu) c.*1975C>G (n.*1975C>G) n.3361C>G c.1170C>G (p.Asp390Glu) c.3291C>G (p.Asp1097Glu) c.2562C>G (p.Asp854Glu) c.1722C>G (p.Asp574Glu) | gnomAD v4 |
| 16 | g.1520725G>T | CA394224939 | IFT140 | c.3537C>A (p.Asp1179Glu) c.1119C>A (p.Asp373Glu) c.*1975C>A (n.*1975C>A) n.3361C>A c.1170C>A (p.Asp390Glu) c.3291C>A (p.Asp1097Glu) c.2562C>A (p.Asp854Glu) c.1722C>A (p.Asp574Glu) | |
| 16 | g.1520726T>A | CA394224940 | IFT140 | c.3536A>T (p.Asp1179Val) c.1118A>T (p.Asp373Val) c.*1974A>T (n.*1974A>T) n.3360A>T c.1169A>T (p.Asp390Val) c.3290A>T (p.Asp1097Val) c.2561A>T (p.Asp854Val) c.1721A>T (p.Asp574Val) | dbSNP |
| 16 | g.1520726T>C | CA394224941 | IFT140 | c.3536A>G (p.Asp1179Gly) c.1118A>G (p.Asp373Gly) c.*1974A>G (n.*1974A>G) n.3360A>G c.1169A>G (p.Asp390Gly) c.3290A>G (p.Asp1097Gly) c.2561A>G (p.Asp854Gly) c.1721A>G (p.Asp574Gly) | |
| 16 | g.1520726T>G | CA394224942 | IFT140 | c.3536A>C (p.Asp1179Ala) c.1118A>C (p.Asp373Ala) c.*1974A>C (n.*1974A>C) n.3360A>C c.1169A>C (p.Asp390Ala) c.3290A>C (p.Asp1097Ala) c.2561A>C (p.Asp854Ala) c.1721A>C (p.Asp574Ala) | |
| 16 | g.1520726T= | CA2201723743 | IFT140 | c.3536A= (p.Asp1179=) c.1118A= (p.Asp373=) c.*1974A= (n.*1974A=) n.3360A= c.1169A= (p.Asp390=) c.3290A= (p.Asp1097=) c.2561A= (p.Asp854=) c.1721A= (p.Asp574=) | |
| 16 | g.1520727C>A | CA394224943 | IFT140 | c.3535G>T (p.Asp1179Tyr) c.1117G>T (p.Asp373Tyr) c.*1973G>T (n.*1973G>T) n.3359G>T c.1168G>T (p.Asp390Tyr) c.3289G>T (p.Asp1097Tyr) c.2560G>T (p.Asp854Tyr) c.1720G>T (p.Asp574Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1520727C= | CA2201723744 | IFT140 | c.3535G= (p.Asp1179=) c.1117G= (p.Asp373=) c.*1973G= (n.*1973G=) n.3359G= c.1168G= (p.Asp390=) c.3289G= (p.Asp1097=) c.2560G= (p.Asp854=) c.1720G= (p.Asp574=) | |
| 16 | g.1520727C>G | CA394224944 | IFT140 | c.3535G>C (p.Asp1179His) c.1117G>C (p.Asp373His) c.*1973G>C (n.*1973G>C) n.3359G>C c.1168G>C (p.Asp390His) c.3289G>C (p.Asp1097His) c.2560G>C (p.Asp854His) c.1720G>C (p.Asp574His) | |
| 16 | g.1520727C>T | CA394224945 | IFT140 | c.3535G>A (p.Asp1179Asn) c.1117G>A (p.Asp373Asn) c.*1973G>A (n.*1973G>A) n.3359G>A c.1168G>A (p.Asp390Asn) c.3289G>A (p.Asp1097Asn) c.2560G>A (p.Asp854Asn) c.1720G>A (p.Asp574Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520727_1520742delinsCCTTGGCCACGGTCAT | CA2201723745 | IFT140 | c.3520_3535delinsATGACCGTGGCCAAGG (p.Met1174=) c.1102_1117delinsATGACCGTGGCCAAGG (p.Met368=) c.*1958_*1973delinsATGACCGTGGCCAAGG (n.*1958_*1973delinsATGACCGTGGCCAAGG) n.3344_3359delinsATGACCGTGGCCAAGG c.1153_1168delinsATGACCGTGGCCAAGG (p.Met385=) c.3274_3289delinsATGACCGTGGCCAAGG (p.Met1092=) c.2545_2560delinsATGACCGTGGCCAAGG (p.Met849=) c.1705_1720delinsATGACCGTGGCCAAGG (p.Met569=) | |
| 16 | g.1520728C>A | CA394224947 | IFT140 | c.3534G>T (p.Lys1178Asn) c.1116G>T (p.Lys372Asn) c.*1972G>T (n.*1972G>T) n.3358G>T c.1167G>T (p.Lys389Asn) c.3288G>T (p.Lys1096Asn) c.2559G>T (p.Lys853Asn) c.1719G>T (p.Lys573Asn) | |
| 16 | g.1520728C>G | CA394224946 | IFT140 | c.3534G>C (p.Lys1178Asn) c.1116G>C (p.Lys372Asn) c.*1972G>C (n.*1972G>C) n.3358G>C c.1167G>C (p.Lys389Asn) c.3288G>C (p.Lys1096Asn) c.2559G>C (p.Lys853Asn) c.1719G>C (p.Lys573Asn) | gnomAD v4 |
| 16 | g.1520728C>T | CA492931910 | IFT140 | c.3534G>A (p.Lys1178=) c.1116G>A (p.Lys372=) c.*1972G>A (n.*1972G>A) n.3358G>A c.1167G>A (p.Lys389=) c.3288G>A (p.Lys1096=) c.2559G>A (p.Lys853=) c.1719G>A (p.Lys573=) | |
| 16 | g.1520731_1520745del | CA276675966 | IFT140 | c.3520_3534del (p.Met1174_Lys1178del) c.1102_1116del (p.Met368_Lys372del) c.*1958_*1972del (n.*1958_*1972del) n.3344_3358del c.1153_1167del (p.Met385_Lys389del) c.3274_3288del (p.Met1092_Lys1096del) c.2545_2559del (p.Met849_Lys853del) c.1705_1719del (p.Met569_Lys573del) | dbSNP |
| 16 | g.1520729T>A | CA394224948 | IFT140 | c.3533A>T (p.Lys1178Met) c.1115A>T (p.Lys372Met) c.*1971A>T (n.*1971A>T) n.3357A>T c.1166A>T (p.Lys389Met) c.3287A>T (p.Lys1096Met) c.2558A>T (p.Lys853Met) c.1718A>T (p.Lys573Met) | |
| 16 | g.1520729T>C | CA7813124 | IFT140 | c.3533A>G (p.Lys1178Arg) c.1115A>G (p.Lys372Arg) c.*1971A>G (n.*1971A>G) n.3357A>G c.1166A>G (p.Lys389Arg) c.3287A>G (p.Lys1096Arg) c.2558A>G (p.Lys853Arg) c.1718A>G (p.Lys573Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1520729T>G | CA394224949 | IFT140 | c.3533A>C (p.Lys1178Thr) c.1115A>C (p.Lys372Thr) c.*1971A>C (n.*1971A>C) n.3357A>C c.1166A>C (p.Lys389Thr) c.3287A>C (p.Lys1096Thr) c.2558A>C (p.Lys853Thr) c.1718A>C (p.Lys573Thr) | |
| 16 | g.1520729T= | CA2201723746 | IFT140 | c.3533A= (p.Lys1178=) c.1115A= (p.Lys372=) c.*1971A= (n.*1971A=) n.3357A= c.1166A= (p.Lys389=) c.3287A= (p.Lys1096=) c.2558A= (p.Lys853=) c.1718A= (p.Lys573=) | |
| 16 | g.1520730T>A | CA394224950 | IFT140 | c.3532A>T (p.Lys1178Ter) c.1114A>T (p.Lys372Ter) c.*1970A>T (n.*1970A>T) n.3356A>T c.1165A>T (p.Lys389Ter) c.3286A>T (p.Lys1096Ter) c.2557A>T (p.Lys853Ter) c.1717A>T (p.Lys573Ter) | |
| 16 | g.1520730T>C | CA7813125 | IFT140 | c.3532A>G (p.Lys1178Glu) c.1114A>G (p.Lys372Glu) c.*1970A>G (n.*1970A>G) n.3356A>G c.1165A>G (p.Lys389Glu) c.3286A>G (p.Lys1096Glu) c.2557A>G (p.Lys853Glu) c.1717A>G (p.Lys573Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520730T>G | CA394224951 | IFT140 | c.3532A>C (p.Lys1178Gln) c.1114A>C (p.Lys372Gln) c.*1970A>C (n.*1970A>C) n.3356A>C c.1165A>C (p.Lys389Gln) c.3286A>C (p.Lys1096Gln) c.2557A>C (p.Lys853Gln) c.1717A>C (p.Lys573Gln) | |
| 16 | g.1520730T= | CA2201723747 | IFT140 | c.3532A= (p.Lys1178=) c.1114A= (p.Lys372=) c.*1970A= (n.*1970A=) n.3356A= c.1165A= (p.Lys389=) c.3286A= (p.Lys1096=) c.2557A= (p.Lys853=) c.1717A= (p.Lys573=) | |
| 16 | g.1520731G>A | CA492931914 | IFT140 | c.3531C>T (p.Ala1177=) c.1113C>T (p.Ala371=) c.*1969C>T (n.*1969C>T) n.3355C>T c.1164C>T (p.Ala388=) c.3285C>T (p.Ala1095=) c.2556C>T (p.Ala852=) c.1716C>T (p.Ala572=) | gnomAD v4 |
| 16 | g.1520731G>C | CA492931913 | IFT140 | c.3531C>G (p.Ala1177=) c.1113C>G (p.Ala371=) c.*1969C>G (n.*1969C>G) n.3355C>G c.1164C>G (p.Ala388=) c.3285C>G (p.Ala1095=) c.2556C>G (p.Ala852=) c.1716C>G (p.Ala572=) | |
| 16 | g.1520731G>T | CA492931911 | IFT140 | c.3531C>A (p.Ala1177=) c.1113C>A (p.Ala371=) c.*1969C>A (n.*1969C>A) n.3355C>A c.1164C>A (p.Ala388=) c.3285C>A (p.Ala1095=) c.2556C>A (p.Ala852=) c.1716C>A (p.Ala572=) | gnomAD v4 |
| 16 | g.1520732G>A | CA394224952 | IFT140 | c.3530C>T (p.Ala1177Val) c.1112C>T (p.Ala371Val) c.*1968C>T (n.*1968C>T) n.3354C>T c.1163C>T (p.Ala388Val) c.3284C>T (p.Ala1095Val) c.2555C>T (p.Ala852Val) c.1715C>T (p.Ala572Val) | |
| 16 | g.1520732G>C | CA394224953 | IFT140 | c.3530C>G (p.Ala1177Gly) c.1112C>G (p.Ala371Gly) c.*1968C>G (n.*1968C>G) n.3354C>G c.1163C>G (p.Ala388Gly) c.3284C>G (p.Ala1095Gly) c.2555C>G (p.Ala852Gly) c.1715C>G (p.Ala572Gly) | |
| 16 | g.1520732G>T | CA394224954 | IFT140 | c.3530C>A (p.Ala1177Asp) c.1112C>A (p.Ala371Asp) c.*1968C>A (n.*1968C>A) n.3354C>A c.1163C>A (p.Ala388Asp) c.3284C>A (p.Ala1095Asp) c.2555C>A (p.Ala852Asp) c.1715C>A (p.Ala572Asp) | gnomAD v4 |
| 16 | g.1520733C>A | CA394224955 | IFT140 | c.3529G>T (p.Ala1177Ser) c.1111G>T (p.Ala371Ser) c.*1967G>T (n.*1967G>T) n.3353G>T c.1162G>T (p.Ala388Ser) c.3283G>T (p.Ala1095Ser) c.2554G>T (p.Ala852Ser) c.1714G>T (p.Ala572Ser) | |
| 16 | g.1520733C>G | CA394224956 | IFT140 | c.3529G>C (p.Ala1177Pro) c.1111G>C (p.Ala371Pro) c.*1967G>C (n.*1967G>C) n.3353G>C c.1162G>C (p.Ala388Pro) c.3283G>C (p.Ala1095Pro) c.2554G>C (p.Ala852Pro) c.1714G>C (p.Ala572Pro) | |
| 16 | g.1520733C>T | CA394224957 | IFT140 | c.3529G>A (p.Ala1177Thr) c.1111G>A (p.Ala371Thr) c.*1967G>A (n.*1967G>A) n.3353G>A c.1162G>A (p.Ala388Thr) c.3283G>A (p.Ala1095Thr) c.2554G>A (p.Ala852Thr) c.1714G>A (p.Ala572Thr) | |
| 16 | g.1520734C>A | CA492931915 | IFT140 | c.3528G>T (p.Val1176=) c.1110G>T (p.Val370=) c.*1966G>T (n.*1966G>T) n.3352G>T c.1161G>T (p.Val387=) c.3282G>T (p.Val1094=) c.2553G>T (p.Val851=) c.1713G>T (p.Val571=) | |
| 16 | g.1520734C>G | CA492931917 | IFT140 | c.3528G>C (p.Val1176=) c.1110G>C (p.Val370=) c.*1966G>C (n.*1966G>C) n.3352G>C c.1161G>C (p.Val387=) c.3282G>C (p.Val1094=) c.2553G>C (p.Val851=) c.1713G>C (p.Val571=) | |
| 16 | g.1520734C>T | CA492931916 | IFT140 | c.3528G>A (p.Val1176=) c.1110G>A (p.Val370=) c.*1966G>A (n.*1966G>A) n.3352G>A c.1161G>A (p.Val387=) c.3282G>A (p.Val1094=) c.2553G>A (p.Val851=) c.1713G>A (p.Val571=) | ClinVar gnomAD v4 |
| 16 | g.1520735A>C | CA394224959 | IFT140 | c.3527T>G (p.Val1176Gly) c.1109T>G (p.Val370Gly) c.*1965T>G (n.*1965T>G) n.3351T>G c.1160T>G (p.Val387Gly) c.3281T>G (p.Val1094Gly) c.2552T>G (p.Val851Gly) c.1712T>G (p.Val571Gly) | |
| 16 | g.1520735A>G | CA394224960 | IFT140 | c.3527T>C (p.Val1176Ala) c.1109T>C (p.Val370Ala) c.*1965T>C (n.*1965T>C) n.3351T>C c.1160T>C (p.Val387Ala) c.3281T>C (p.Val1094Ala) c.2552T>C (p.Val851Ala) c.1712T>C (p.Val571Ala) | |
| 16 | g.1520735A>T | CA394224958 | IFT140 | c.3527T>A (p.Val1176Glu) c.1109T>A (p.Val370Glu) c.*1965T>A (n.*1965T>A) n.3351T>A c.1160T>A (p.Val387Glu) c.3281T>A (p.Val1094Glu) c.2552T>A (p.Val851Glu) c.1712T>A (p.Val571Glu) | gnomAD v4 |
| 16 | g.1520736C>A | CA394224961 | IFT140 | c.3526G>T (p.Val1176Leu) c.1108G>T (p.Val370Leu) c.*1964G>T (n.*1964G>T) n.3350G>T c.1159G>T (p.Val387Leu) c.3280G>T (p.Val1094Leu) c.2551G>T (p.Val851Leu) c.1711G>T (p.Val571Leu) | ClinVar |
| 16 | g.1520736C= | CA2201723748 | IFT140 | c.3526G= (p.Val1176=) c.1108G= (p.Val370=) c.*1964G= (n.*1964G=) n.3350G= c.1159G= (p.Val387=) c.3280G= (p.Val1094=) c.2551G= (p.Val851=) c.1711G= (p.Val571=) | |
| 16 | g.1520736C>G | CA394224962 | IFT140 | c.3526G>C (p.Val1176Leu) c.1108G>C (p.Val370Leu) c.*1964G>C (n.*1964G>C) n.3350G>C c.1159G>C (p.Val387Leu) c.3280G>C (p.Val1094Leu) c.2551G>C (p.Val851Leu) c.1711G>C (p.Val571Leu) | |
| 16 | g.1520736C>T | CA7813126 | IFT140 | c.3526G>A (p.Val1176Met) c.1108G>A (p.Val370Met) c.*1964G>A (n.*1964G>A) n.3350G>A c.1159G>A (p.Val387Met) c.3280G>A (p.Val1094Met) c.2551G>A (p.Val851Met) c.1711G>A (p.Val571Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520737G>A | CA492931918 | IFT140 | c.3525C>T (p.Thr1175=) c.1107C>T (p.Thr369=) c.*1963C>T (n.*1963C>T) n.3349C>T c.1158C>T (p.Thr386=) c.3279C>T (p.Thr1093=) c.2550C>T (p.Thr850=) c.1710C>T (p.Thr570=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520737G>C | CA7813127 | IFT140 | c.3525C>G (p.Thr1175=) c.1107C>G (p.Thr369=) c.*1963C>G (n.*1963C>G) n.3349C>G c.1158C>G (p.Thr386=) c.3279C>G (p.Thr1093=) c.2550C>G (p.Thr850=) c.1710C>G (p.Thr570=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520737G= | CA2201723749 | IFT140 | c.3525C= (p.Thr1175=) c.1107C= (p.Thr369=) c.*1963C= (n.*1963C=) n.3349C= c.1158C= (p.Thr386=) c.3279C= (p.Thr1093=) c.2550C= (p.Thr850=) c.1710C= (p.Thr570=) | |
| 16 | g.1520737G>T | CA492931919 | IFT140 | c.3525C>A (p.Thr1175=) c.1107C>A (p.Thr369=) c.*1963C>A (n.*1963C>A) n.3349C>A c.1158C>A (p.Thr386=) c.3279C>A (p.Thr1093=) c.2550C>A (p.Thr850=) c.1710C>A (p.Thr570=) | |
| 16 | g.1520738G>A | CA394224963 | IFT140 | c.3524C>T (p.Thr1175Ile) c.1106C>T (p.Thr369Ile) c.*1962C>T (n.*1962C>T) n.3348C>T c.1157C>T (p.Thr386Ile) c.3278C>T (p.Thr1093Ile) c.2549C>T (p.Thr850Ile) c.1709C>T (p.Thr570Ile) | COSMIC |
| 16 | g.1520738G>C | CA394224964 | IFT140 | c.3524C>G (p.Thr1175Ser) c.1106C>G (p.Thr369Ser) c.*1962C>G (n.*1962C>G) n.3348C>G c.1157C>G (p.Thr386Ser) c.3278C>G (p.Thr1093Ser) c.2549C>G (p.Thr850Ser) c.1709C>G (p.Thr570Ser) | |
| 16 | g.1520738G>T | CA394224965 | IFT140 | c.3524C>A (p.Thr1175Asn) c.1106C>A (p.Thr369Asn) c.*1962C>A (n.*1962C>A) n.3348C>A c.1157C>A (p.Thr386Asn) c.3278C>A (p.Thr1093Asn) c.2549C>A (p.Thr850Asn) c.1709C>A (p.Thr570Asn) | gnomAD v4 |
| 16 | g.1520739T>A | CA394224966 | IFT140 | c.3523A>T (p.Thr1175Ser) c.1105A>T (p.Thr369Ser) c.*1961A>T (n.*1961A>T) n.3347A>T c.1156A>T (p.Thr386Ser) c.3277A>T (p.Thr1093Ser) c.2548A>T (p.Thr850Ser) c.1708A>T (p.Thr570Ser) | |
| 16 | g.1520739T>C | CA394224967 | IFT140 | c.3523A>G (p.Thr1175Ala) c.1105A>G (p.Thr369Ala) c.*1961A>G (n.*1961A>G) n.3347A>G c.1156A>G (p.Thr386Ala) c.3277A>G (p.Thr1093Ala) c.2548A>G (p.Thr850Ala) c.1708A>G (p.Thr570Ala) | |
| 16 | g.1520739T>G | CA394224968 | IFT140 | c.3523A>C (p.Thr1175Pro) c.1105A>C (p.Thr369Pro) c.*1961A>C (n.*1961A>C) n.3347A>C c.1156A>C (p.Thr386Pro) c.3277A>C (p.Thr1093Pro) c.2548A>C (p.Thr850Pro) c.1708A>C (p.Thr570Pro) | |
| 16 | g.1520740C>A | CA394224969 | IFT140 | c.3522G>T (p.Met1174Ile) c.1104G>T (p.Met368Ile) c.*1960G>T (n.*1960G>T) n.3346G>T c.1155G>T (p.Met385Ile) c.3276G>T (p.Met1092Ile) c.2547G>T (p.Met849Ile) c.1707G>T (p.Met569Ile) | gnomAD v4 |
| 16 | g.1520740C>G | CA394224970 | IFT140 | c.3522G>C (p.Met1174Ile) c.1104G>C (p.Met368Ile) c.*1960G>C (n.*1960G>C) n.3346G>C c.1155G>C (p.Met385Ile) c.3276G>C (p.Met1092Ile) c.2547G>C (p.Met849Ile) c.1707G>C (p.Met569Ile) | |
| 16 | g.1520740C>T | CA394224971 | IFT140 | c.3522G>A (p.Met1174Ile) c.1104G>A (p.Met368Ile) c.*1960G>A (n.*1960G>A) n.3346G>A c.1155G>A (p.Met385Ile) c.3276G>A (p.Met1092Ile) c.2547G>A (p.Met849Ile) c.1707G>A (p.Met569Ile) | |
| 16 | g.1520740_1520741delinsCA | CA2201723750 | IFT140 | c.3521_3522delinsTG (p.Met1174=) c.1103_1104delinsTG (p.Met368=) c.*1959_*1960delinsTG (n.*1959_*1960delinsTG) n.3345_3346delinsTG c.1154_1155delinsTG (p.Met385=) c.3275_3276delinsTG (p.Met1092=) c.2546_2547delinsTG (p.Met849=) c.1706_1707delinsTG (p.Met569=) | |
| 16 | g.1520741del | CA620701196 | IFT140 | c.3521del (p.Met1174ArgfsTer22) c.1103del (p.Met368ArgfsTer22) c.*1959del (n.*1959del) n.3345del c.1154del (p.Met385ArgfsTer22) c.3275del (p.Met1092ArgfsTer22) c.2546del (p.Met849ArgfsTer22) c.1706del (p.Met569ArgfsTer22) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520741A= | CA2201723751 | IFT140 | c.3521T= (p.Met1174=) c.1103T= (p.Met368=) c.*1959T= (n.*1959T=) n.3345T= c.1154T= (p.Met385=) c.3275T= (p.Met1092=) c.2546T= (p.Met849=) c.1706T= (p.Met569=) | |
| 16 | g.1520741A>C | CA394224973 | IFT140 | c.3521T>G (p.Met1174Arg) c.1103T>G (p.Met368Arg) c.*1959T>G (n.*1959T>G) n.3345T>G c.1154T>G (p.Met385Arg) c.3275T>G (p.Met1092Arg) c.2546T>G (p.Met849Arg) c.1706T>G (p.Met569Arg) | |
| 16 | g.1520741A>G | CA394224972 | IFT140 | c.3521T>C (p.Met1174Thr) c.1103T>C (p.Met368Thr) c.*1959T>C (n.*1959T>C) n.3345T>C c.1154T>C (p.Met385Thr) c.3275T>C (p.Met1092Thr) c.2546T>C (p.Met849Thr) c.1706T>C (p.Met569Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520741A>T | CA7813128 | IFT140 | c.3521T>A (p.Met1174Lys) c.1103T>A (p.Met368Lys) c.*1959T>A (n.*1959T>A) n.3345T>A c.1154T>A (p.Met385Lys) c.3275T>A (p.Met1092Lys) c.2546T>A (p.Met849Lys) c.1706T>A (p.Met569Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520742T>A | CA394224974 | IFT140 | c.3520A>T (p.Met1174Leu) c.1102A>T (p.Met368Leu) c.*1958A>T (n.*1958A>T) n.3344A>T c.1153A>T (p.Met385Leu) c.3274A>T (p.Met1092Leu) c.2545A>T (p.Met849Leu) c.1705A>T (p.Met569Leu) | |
| 16 | g.1520742T>C | CA394224975 | IFT140 | c.3520A>G (p.Met1174Val) c.1102A>G (p.Met368Val) c.*1958A>G (n.*1958A>G) n.3344A>G c.1153A>G (p.Met385Val) c.3274A>G (p.Met1092Val) c.2545A>G (p.Met849Val) c.1705A>G (p.Met569Val) | |
| 16 | g.1520742T>G | CA394224976 | IFT140 | c.3520A>C (p.Met1174Leu) c.1102A>C (p.Met368Leu) c.*1958A>C (n.*1958A>C) n.3344A>C c.1153A>C (p.Met385Leu) c.3274A>C (p.Met1092Leu) c.2545A>C (p.Met849Leu) c.1705A>C (p.Met569Leu) | gnomAD v4 |
| 16 | g.1520743C>A | CA394224977 | IFT140 | c.3519G>T (p.Lys1173Asn) c.1101G>T (p.Lys367Asn) c.*1957G>T (n.*1957G>T) n.3343G>T c.1152G>T (p.Lys384Asn) c.3273G>T (p.Lys1091Asn) c.2544G>T (p.Lys848Asn) c.1704G>T (p.Lys568Asn) | |
| 16 | g.1520743C>G | CA394224978 | IFT140 | c.3519G>C (p.Lys1173Asn) c.1101G>C (p.Lys367Asn) c.*1957G>C (n.*1957G>C) n.3343G>C c.1152G>C (p.Lys384Asn) c.3273G>C (p.Lys1091Asn) c.2544G>C (p.Lys848Asn) c.1704G>C (p.Lys568Asn) | |
| 16 | g.1520743C>T | CA492931920 | IFT140 | c.3519G>A (p.Lys1173=) c.1101G>A (p.Lys367=) c.*1957G>A (n.*1957G>A) n.3343G>A c.1152G>A (p.Lys384=) c.3273G>A (p.Lys1091=) c.2544G>A (p.Lys848=) c.1704G>A (p.Lys568=) | |
| 16 | g.1520744T>A | CA394224979 | IFT140 | c.3518A>T (p.Lys1173Met) c.1100A>T (p.Lys367Met) c.*1956A>T (n.*1956A>T) n.3342A>T c.1151A>T (p.Lys384Met) c.3272A>T (p.Lys1091Met) c.2543A>T (p.Lys848Met) c.1703A>T (p.Lys568Met) | |
| 16 | g.1520744T>C | CA394224980 | IFT140 | c.3518A>G (p.Lys1173Arg) c.1100A>G (p.Lys367Arg) c.*1956A>G (n.*1956A>G) n.3342A>G c.1151A>G (p.Lys384Arg) c.3272A>G (p.Lys1091Arg) c.2543A>G (p.Lys848Arg) c.1703A>G (p.Lys568Arg) | gnomAD v4 |
| 16 | g.1520744T>G | CA394224981 | IFT140 | c.3518A>C (p.Lys1173Thr) c.1100A>C (p.Lys367Thr) c.*1956A>C (n.*1956A>C) n.3342A>C c.1151A>C (p.Lys384Thr) c.3272A>C (p.Lys1091Thr) c.2543A>C (p.Lys848Thr) c.1703A>C (p.Lys568Thr) | |
| 16 | g.1520747del | CA2631006491 | IFT140 | c.3518del (p.Lys1173ArgfsTer2) c.1100del (p.Lys367ArgfsTer2) c.*1956del (n.*1956del) n.3342del c.1151del (p.Lys384ArgfsTer2) c.3272del (p.Lys1091ArgfsTer2) c.2543del (p.Lys848ArgfsTer2) c.1703del (p.Lys568ArgfsTer2) | gnomAD v4 |
| 16 | g.1520745T>A | CA394224982 | IFT140 | c.3517A>T (p.Lys1173Ter) c.1099A>T (p.Lys367Ter) c.*1955A>T (n.*1955A>T) n.3341A>T c.1150A>T (p.Lys384Ter) c.3271A>T (p.Lys1091Ter) c.2542A>T (p.Lys848Ter) c.1702A>T (p.Lys568Ter) | |
| 16 | g.1520745T>C | CA394224983 | IFT140 | c.3517A>G (p.Lys1173Glu) c.1099A>G (p.Lys367Glu) c.*1955A>G (n.*1955A>G) n.3341A>G c.1150A>G (p.Lys384Glu) c.3271A>G (p.Lys1091Glu) c.2542A>G (p.Lys848Glu) c.1702A>G (p.Lys568Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520745T>G | CA394224984 | IFT140 | c.3517A>C (p.Lys1173Gln) c.1099A>C (p.Lys367Gln) c.*1955A>C (n.*1955A>C) n.3341A>C c.1150A>C (p.Lys384Gln) c.3271A>C (p.Lys1091Gln) c.2542A>C (p.Lys848Gln) c.1702A>C (p.Lys568Gln) | |
| 16 | g.1520745T= | CA2201723752 | IFT140 | c.3517A= (p.Lys1173=) c.1099A= (p.Lys367=) c.*1955A= (n.*1955A=) n.3341A= c.1150A= (p.Lys384=) c.3271A= (p.Lys1091=) c.2542A= (p.Lys848=) c.1702A= (p.Lys568=) | |
| 16 | g.1520746T>A | CA394224985 | IFT140 | c.3516A>T (p.Glu1172Asp) c.1098A>T (p.Glu366Asp) c.*1954A>T (n.*1954A>T) n.3340A>T c.1149A>T (p.Glu383Asp) c.3270A>T (p.Glu1090Asp) c.2541A>T (p.Glu847Asp) c.1701A>T (p.Glu567Asp) | |
| 16 | g.1520746T>C | CA492931921 | IFT140 | c.3516A>G (p.Glu1172=) c.1098A>G (p.Glu366=) c.*1954A>G (n.*1954A>G) n.3340A>G c.1149A>G (p.Glu383=) c.3270A>G (p.Glu1090=) c.2541A>G (p.Glu847=) c.1701A>G (p.Glu567=) | dbSNP |
| 16 | g.1520746T>G | CA394224986 | IFT140 | c.3516A>C (p.Glu1172Asp) c.1098A>C (p.Glu366Asp) c.*1954A>C (n.*1954A>C) n.3340A>C c.1149A>C (p.Glu383Asp) c.3270A>C (p.Glu1090Asp) c.2541A>C (p.Glu847Asp) c.1701A>C (p.Glu567Asp) | |
| 16 | g.1520747T>A | CA394224988 | IFT140 | c.3515A>T (p.Glu1172Val) c.1097A>T (p.Glu366Val) c.*1953A>T (n.*1953A>T) n.3339A>T c.1148A>T (p.Glu383Val) c.3269A>T (p.Glu1090Val) c.2540A>T (p.Glu847Val) c.1700A>T (p.Glu567Val) | |
| 16 | g.1520747T>C | CA394224989 | IFT140 | c.3515A>G (p.Glu1172Gly) c.1097A>G (p.Glu366Gly) c.*1953A>G (n.*1953A>G) n.3339A>G c.1148A>G (p.Glu383Gly) c.3269A>G (p.Glu1090Gly) c.2540A>G (p.Glu847Gly) c.1700A>G (p.Glu567Gly) | |
| 16 | g.1520747T>G | CA394224987 | IFT140 | c.3515A>C (p.Glu1172Ala) c.1097A>C (p.Glu366Ala) c.*1953A>C (n.*1953A>C) n.3339A>C c.1148A>C (p.Glu383Ala) c.3269A>C (p.Glu1090Ala) c.2540A>C (p.Glu847Ala) c.1700A>C (p.Glu567Ala) | |
| 16 | g.1520748C>A | CA394224992 | IFT140 | c.3514G>T (p.Glu1172Ter) c.1096G>T (p.Glu366Ter) c.*1952G>T (n.*1952G>T) n.3338G>T c.1147G>T (p.Glu383Ter) c.3268G>T (p.Glu1090Ter) c.2539G>T (p.Glu847Ter) c.1699G>T (p.Glu567Ter) | |
| 16 | g.1520748C>G | CA394224990 | IFT140 | c.3514G>C (p.Glu1172Gln) c.1096G>C (p.Glu366Gln) c.*1952G>C (n.*1952G>C) n.3338G>C c.1147G>C (p.Glu383Gln) c.3268G>C (p.Glu1090Gln) c.2539G>C (p.Glu847Gln) c.1699G>C (p.Glu567Gln) | |
| 16 | g.1520748C>T | CA394224991 | IFT140 | c.3514G>A (p.Glu1172Lys) c.1096G>A (p.Glu366Lys) c.*1952G>A (n.*1952G>A) n.3338G>A c.1147G>A (p.Glu383Lys) c.3268G>A (p.Glu1090Lys) c.2539G>A (p.Glu847Lys) c.1699G>A (p.Glu567Lys) | |
| 16 | g.1520749C>A | CA492931922 | IFT140 | c.3513G>T (p.Ala1171=) c.1095G>T (p.Ala365=) c.*1951G>T (n.*1951G>T) n.3337G>T c.1146G>T (p.Ala382=) c.3267G>T (p.Ala1089=) c.2538G>T (p.Ala846=) c.1698G>T (p.Ala566=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520749C= | CA2201723753 | IFT140 | c.3513G= (p.Ala1171=) c.1095G= (p.Ala365=) c.*1951G= (n.*1951G=) n.3337G= c.1146G= (p.Ala382=) c.3267G= (p.Ala1089=) c.2538G= (p.Ala846=) c.1698G= (p.Ala566=) | |
| 16 | g.1520749C>G | CA492931923 | IFT140 | c.3513G>C (p.Ala1171=) c.1095G>C (p.Ala365=) c.*1951G>C (n.*1951G>C) n.3337G>C c.1146G>C (p.Ala382=) c.3267G>C (p.Ala1089=) c.2538G>C (p.Ala846=) c.1698G>C (p.Ala566=) | |
| 16 | g.1520749C>T | CA7813129 | IFT140 | c.3513G>A (p.Ala1171=) c.1095G>A (p.Ala365=) c.*1951G>A (n.*1951G>A) n.3337G>A c.1146G>A (p.Ala382=) c.3267G>A (p.Ala1089=) c.2538G>A (p.Ala846=) c.1698G>A (p.Ala566=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520750G>A | CA394224993 | IFT140 | c.3512C>T (p.Ala1171Val) c.1094C>T (p.Ala365Val) c.*1950C>T (n.*1950C>T) n.3336C>T c.1145C>T (p.Ala382Val) c.3266C>T (p.Ala1089Val) c.2537C>T (p.Ala846Val) c.1697C>T (p.Ala566Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520750G>C | CA394224994 | IFT140 | c.3512C>G (p.Ala1171Gly) c.1094C>G (p.Ala365Gly) c.*1950C>G (n.*1950C>G) n.3336C>G c.1145C>G (p.Ala382Gly) c.3266C>G (p.Ala1089Gly) c.2537C>G (p.Ala846Gly) c.1697C>G (p.Ala566Gly) | |
| 16 | g.1520750G= | CA2201723754 | IFT140 | c.3512C= (p.Ala1171=) c.1094C= (p.Ala365=) c.*1950C= (n.*1950C=) n.3336C= c.1145C= (p.Ala382=) c.3266C= (p.Ala1089=) c.2537C= (p.Ala846=) c.1697C= (p.Ala566=) | |
| 16 | g.1520750G>T | CA394224995 | IFT140 | c.3512C>A (p.Ala1171Glu) c.1094C>A (p.Ala365Glu) c.*1950C>A (n.*1950C>A) n.3336C>A c.1145C>A (p.Ala382Glu) c.3266C>A (p.Ala1089Glu) c.2537C>A (p.Ala846Glu) c.1697C>A (p.Ala566Glu) | |
| 16 | g.1520751C>A | CA394224996 | IFT140 | c.3511G>T (p.Ala1171Ser) c.1093G>T (p.Ala365Ser) c.*1949G>T (n.*1949G>T) n.3335G>T c.1144G>T (p.Ala382Ser) c.3265G>T (p.Ala1089Ser) c.2536G>T (p.Ala846Ser) c.1696G>T (p.Ala566Ser) | |
| 16 | g.1520751C= | CA2201723755 | IFT140 | c.3511G= (p.Ala1171=) c.1093G= (p.Ala365=) c.*1949G= (n.*1949G=) n.3335G= c.1144G= (p.Ala382=) c.3265G= (p.Ala1089=) c.2536G= (p.Ala846=) c.1696G= (p.Ala566=) | |
| 16 | g.1520751C>G | CA394224997 | IFT140 | c.3511G>C (p.Ala1171Pro) c.1093G>C (p.Ala365Pro) c.*1949G>C (n.*1949G>C) n.3335G>C c.1144G>C (p.Ala382Pro) c.3265G>C (p.Ala1089Pro) c.2536G>C (p.Ala846Pro) c.1696G>C (p.Ala566Pro) | |
| 16 | g.1520751C>T | CA394224998 | IFT140 | c.3511G>A (p.Ala1171Thr) c.1093G>A (p.Ala365Thr) c.*1949G>A (n.*1949G>A) n.3335G>A c.1144G>A (p.Ala382Thr) c.3265G>A (p.Ala1089Thr) c.2536G>A (p.Ala846Thr) c.1696G>A (p.Ala566Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520752C>A | CA394224999 | IFT140 | c.3510G>T (p.Met1170Ile) c.1092G>T (p.Met364Ile) c.*1948G>T (n.*1948G>T) n.3334G>T c.1143G>T (p.Met381Ile) c.3264G>T (p.Met1088Ile) c.2535G>T (p.Met845Ile) c.1695G>T (p.Met565Ile) | |
| 16 | g.1520752C= | CA2201723756 | IFT140 | c.3510G= (p.Met1170=) c.1092G= (p.Met364=) c.*1948G= (n.*1948G=) n.3334G= c.1143G= (p.Met381=) c.3264G= (p.Met1088=) c.2535G= (p.Met845=) c.1695G= (p.Met565=) | |
| 16 | g.1520752C>G | CA394225000 | IFT140 | c.3510G>C (p.Met1170Ile) c.1092G>C (p.Met364Ile) c.*1948G>C (n.*1948G>C) n.3334G>C c.1143G>C (p.Met381Ile) c.3264G>C (p.Met1088Ile) c.2535G>C (p.Met845Ile) c.1695G>C (p.Met565Ile) | |
| 16 | g.1520752C>T | CA7813130 | IFT140 | c.3510G>A (p.Met1170Ile) c.1092G>A (p.Met364Ile) c.*1948G>A (n.*1948G>A) n.3334G>A c.1143G>A (p.Met381Ile) c.3264G>A (p.Met1088Ile) c.2535G>A (p.Met845Ile) c.1695G>A (p.Met565Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520753A>C | CA394225003 | IFT140 | c.3509T>G (p.Met1170Arg) c.1091T>G (p.Met364Arg) c.*1947T>G (n.*1947T>G) n.3333T>G c.1142T>G (p.Met381Arg) c.3263T>G (p.Met1088Arg) c.2534T>G (p.Met845Arg) c.1694T>G (p.Met565Arg) | |
| 16 | g.1520753A>G | CA394225002 | IFT140 | c.3509T>C (p.Met1170Thr) c.1091T>C (p.Met364Thr) c.*1947T>C (n.*1947T>C) n.3333T>C c.1142T>C (p.Met381Thr) c.3263T>C (p.Met1088Thr) c.2534T>C (p.Met845Thr) c.1694T>C (p.Met565Thr) | gnomAD v4 |
| 16 | g.1520753A>T | CA394225001 | IFT140 | c.3509T>A (p.Met1170Lys) c.1091T>A (p.Met364Lys) c.*1947T>A (n.*1947T>A) n.3333T>A c.1142T>A (p.Met381Lys) c.3263T>A (p.Met1088Lys) c.2534T>A (p.Met845Lys) c.1694T>A (p.Met565Lys) | |
| 16 | g.1520754T>A | CA394225004 | IFT140 | c.3508A>T (p.Met1170Leu) c.1090A>T (p.Met364Leu) c.*1946A>T (n.*1946A>T) n.3332A>T c.1141A>T (p.Met381Leu) c.3262A>T (p.Met1088Leu) c.2533A>T (p.Met845Leu) c.1693A>T (p.Met565Leu) | |
| 16 | g.1520754T>C | CA394225005 | IFT140 | c.3508A>G (p.Met1170Val) c.1090A>G (p.Met364Val) c.*1946A>G (n.*1946A>G) n.3332A>G c.1141A>G (p.Met381Val) c.3262A>G (p.Met1088Val) c.2533A>G (p.Met845Val) c.1693A>G (p.Met565Val) | |
| 16 | g.1520754T>G | CA394225006 | IFT140 | c.3508A>C (p.Met1170Leu) c.1090A>C (p.Met364Leu) c.*1946A>C (n.*1946A>C) n.3332A>C c.1141A>C (p.Met381Leu) c.3262A>C (p.Met1088Leu) c.2533A>C (p.Met845Leu) c.1693A>C (p.Met565Leu) | |
| 16 | g.1520755C>A | CA394225007 | IFT140 | c.3507G>T (p.Glu1169Asp) c.1089G>T (p.Glu363Asp) c.*1945G>T (n.*1945G>T) n.3331G>T c.1140G>T (p.Glu380Asp) c.3261G>T (p.Glu1087Asp) c.2532G>T (p.Glu844Asp) c.1692G>T (p.Glu564Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1520755C= | CA2201723757 | IFT140 | c.3507G= (p.Glu1169=) c.1089G= (p.Glu363=) c.*1945G= (n.*1945G=) n.3331G= c.1140G= (p.Glu380=) c.3261G= (p.Glu1087=) c.2532G= (p.Glu844=) c.1692G= (p.Glu564=) | |
| 16 | g.1520755C>G | CA394225008 | IFT140 | c.3507G>C (p.Glu1169Asp) c.1089G>C (p.Glu363Asp) c.*1945G>C (n.*1945G>C) n.3331G>C c.1140G>C (p.Glu380Asp) c.3261G>C (p.Glu1087Asp) c.2532G>C (p.Glu844Asp) c.1692G>C (p.Glu564Asp) | ClinVar dbSNP gnomAD v4 |
| 16 | g.1520755C>T | CA492931924 | IFT140 | c.3507G>A (p.Glu1169=) c.1089G>A (p.Glu363=) c.*1945G>A (n.*1945G>A) n.3331G>A c.1140G>A (p.Glu380=) c.3261G>A (p.Glu1087=) c.2532G>A (p.Glu844=) c.1692G>A (p.Glu564=) | |
| 16 | g.1520758_1520760del | CA2631006492 | IFT140 | c.3505_3507del (p.Glu1169del) c.1087_1089del (p.Glu363del) c.*1943_*1945del (n.*1943_*1945del) n.3329_3331del c.1138_1140del (p.Glu380del) c.3259_3261del (p.Glu1087del) c.2530_2532del (p.Glu844del) c.1690_1692del (p.Glu564del) | gnomAD v4 |
| 16 | g.1520756T>A | CA394225009 | IFT140 | c.3506A>T (p.Glu1169Val) c.1088A>T (p.Glu363Val) c.*1944A>T (n.*1944A>T) n.3330A>T c.1139A>T (p.Glu380Val) c.3260A>T (p.Glu1087Val) c.2531A>T (p.Glu844Val) c.1691A>T (p.Glu564Val) | |
| 16 | g.1520756T>C | CA394225010 | IFT140 | c.3506A>G (p.Glu1169Gly) c.1088A>G (p.Glu363Gly) c.*1944A>G (n.*1944A>G) n.3330A>G c.1139A>G (p.Glu380Gly) c.3260A>G (p.Glu1087Gly) c.2531A>G (p.Glu844Gly) c.1691A>G (p.Glu564Gly) | gnomAD v4 |
| 16 | g.1520756T>G | CA394225011 | IFT140 | c.3506A>C (p.Glu1169Ala) c.1088A>C (p.Glu363Ala) c.*1944A>C (n.*1944A>C) n.3330A>C c.1139A>C (p.Glu380Ala) c.3260A>C (p.Glu1087Ala) c.2531A>C (p.Glu844Ala) c.1691A>C (p.Glu564Ala) | |
| 16 | g.1520757C>A | CA394225012 | IFT140 | c.3505G>T (p.Glu1169Ter) c.1087G>T (p.Glu363Ter) c.*1943G>T (n.*1943G>T) n.3329G>T c.1138G>T (p.Glu380Ter) c.3259G>T (p.Glu1087Ter) c.2530G>T (p.Glu844Ter) c.1690G>T (p.Glu564Ter) | |
| 16 | g.1520757C>G | CA394225013 | IFT140 | c.3505G>C (p.Glu1169Gln) c.1087G>C (p.Glu363Gln) c.*1943G>C (n.*1943G>C) n.3329G>C c.1138G>C (p.Glu380Gln) c.3259G>C (p.Glu1087Gln) c.2530G>C (p.Glu844Gln) c.1690G>C (p.Glu564Gln) | |
| 16 | g.1520757C>T | CA394225014 | IFT140 | c.3505G>A (p.Glu1169Lys) c.1087G>A (p.Glu363Lys) c.*1943G>A (n.*1943G>A) n.3329G>A c.1138G>A (p.Glu380Lys) c.3259G>A (p.Glu1087Lys) c.2530G>A (p.Glu844Lys) c.1690G>A (p.Glu564Lys) | gnomAD v4 |
| 16 | g.1520758C>A | CA394225015 | IFT140 | c.3504G>T (p.Glu1168Asp) c.1086G>T (p.Glu362Asp) c.*1942G>T (n.*1942G>T) n.3328G>T c.1137G>T (p.Glu379Asp) c.3258G>T (p.Glu1086Asp) c.2529G>T (p.Glu843Asp) c.1689G>T (p.Glu563Asp) | gnomAD v4 |
| 16 | g.1520758C= | CA2201723758 | IFT140 | c.3504G= (p.Glu1168=) c.1086G= (p.Glu362=) c.*1942G= (n.*1942G=) n.3328G= c.1137G= (p.Glu379=) c.3258G= (p.Glu1086=) c.2529G= (p.Glu843=) c.1689G= (p.Glu563=) | |
| 16 | g.1520758C>G | CA7813131 | IFT140 | c.3504G>C (p.Glu1168Asp) c.1086G>C (p.Glu362Asp) c.*1942G>C (n.*1942G>C) n.3328G>C c.1137G>C (p.Glu379Asp) c.3258G>C (p.Glu1086Asp) c.2529G>C (p.Glu843Asp) c.1689G>C (p.Glu563Asp) | dbSNP ExAC gnomAD v4 |
| 16 | g.1520758C>T | CA492931925 | IFT140 | c.3504G>A (p.Glu1168=) c.1086G>A (p.Glu362=) c.*1942G>A (n.*1942G>A) n.3328G>A c.1137G>A (p.Glu379=) c.3258G>A (p.Glu1086=) c.2529G>A (p.Glu843=) c.1689G>A (p.Glu563=) | |
| 16 | g.1520759T>A | CA394225017 | IFT140 | c.3503A>T (p.Glu1168Val) c.1085A>T (p.Glu362Val) c.*1941A>T (n.*1941A>T) n.3327A>T c.1136A>T (p.Glu379Val) c.3257A>T (p.Glu1086Val) c.2528A>T (p.Glu843Val) c.1688A>T (p.Glu563Val) | |
| 16 | g.1520759T>C | CA394225018 | IFT140 | c.3503A>G (p.Glu1168Gly) c.1085A>G (p.Glu362Gly) c.*1941A>G (n.*1941A>G) n.3327A>G c.1136A>G (p.Glu379Gly) c.3257A>G (p.Glu1086Gly) c.2528A>G (p.Glu843Gly) c.1688A>G (p.Glu563Gly) | |
| 16 | g.1520759T>G | CA394225016 | IFT140 | c.3503A>C (p.Glu1168Ala) c.1085A>C (p.Glu362Ala) c.*1941A>C (n.*1941A>C) n.3327A>C c.1136A>C (p.Glu379Ala) c.3257A>C (p.Glu1086Ala) c.2528A>C (p.Glu843Ala) c.1688A>C (p.Glu563Ala) | |
| 16 | g.1520760C>A | CA394225019 | IFT140 | c.3502G>T (p.Glu1168Ter) c.1084G>T (p.Glu362Ter) c.*1940G>T (n.*1940G>T) n.3326G>T c.1135G>T (p.Glu379Ter) c.3256G>T (p.Glu1086Ter) c.2527G>T (p.Glu843Ter) c.1687G>T (p.Glu563Ter) | ClinVar gnomAD v4 |
| 16 | g.1520760C= | CA2201723759 | IFT140 | c.3502G= (p.Glu1168=) c.1084G= (p.Glu362=) c.*1940G= (n.*1940G=) n.3326G= c.1135G= (p.Glu379=) c.3256G= (p.Glu1086=) c.2527G= (p.Glu843=) c.1687G= (p.Glu563=) | |
| 16 | g.1520760C>G | CA7813133 | IFT140 | c.3502G>C (p.Glu1168Gln) c.1084G>C (p.Glu362Gln) c.*1940G>C (n.*1940G>C) n.3326G>C c.1135G>C (p.Glu379Gln) c.3256G>C (p.Glu1086Gln) c.2527G>C (p.Glu843Gln) c.1687G>C (p.Glu563Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1520760C>T | CA7813132 | IFT140 | c.3502G>A (p.Glu1168Lys) c.1084G>A (p.Glu362Lys) c.*1940G>A (n.*1940G>A) n.3326G>A c.1135G>A (p.Glu379Lys) c.3256G>A (p.Glu1086Lys) c.2527G>A (p.Glu843Lys) c.1687G>A (p.Glu563Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.1520761G>A | CA7813134 | IFT140 | c.3501C>T (p.Thr1167=) c.1083C>T (p.Thr361=) c.*1939C>T (n.*1939C>T) n.3325C>T c.1134C>T (p.Thr378=) c.3255C>T (p.Thr1085=) c.2526C>T (p.Thr842=) c.1686C>T (p.Thr562=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520761G>C | CA492931927 | IFT140 | c.3501C>G (p.Thr1167=) c.1083C>G (p.Thr361=) c.*1939C>G (n.*1939C>G) n.3325C>G c.1134C>G (p.Thr378=) c.3255C>G (p.Thr1085=) c.2526C>G (p.Thr842=) c.1686C>G (p.Thr562=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520761G= | CA2201723760 | IFT140 | c.3501C= (p.Thr1167=) c.1083C= (p.Thr361=) c.*1939C= (n.*1939C=) n.3325C= c.1134C= (p.Thr378=) c.3255C= (p.Thr1085=) c.2526C= (p.Thr842=) c.1686C= (p.Thr562=) | |
| 16 | g.1520761G>T | CA492931926 | IFT140 | c.3501C>A (p.Thr1167=) c.1083C>A (p.Thr361=) c.*1939C>A (n.*1939C>A) n.3325C>A c.1134C>A (p.Thr378=) c.3255C>A (p.Thr1085=) c.2526C>A (p.Thr842=) c.1686C>A (p.Thr562=) | |
| 16 | g.1520762G>A | CA394225020 | IFT140 | c.3500C>T (p.Thr1167Ile) c.1082C>T (p.Thr361Ile) c.*1938C>T (n.*1938C>T) n.3324C>T c.1133C>T (p.Thr378Ile) c.3254C>T (p.Thr1085Ile) c.2525C>T (p.Thr842Ile) c.1685C>T (p.Thr562Ile) | ClinVar dbSNP gnomAD v4 |
| 16 | g.1520762G>C | CA394225021 | IFT140 | c.3500C>G (p.Thr1167Ser) c.1082C>G (p.Thr361Ser) c.*1938C>G (n.*1938C>G) n.3324C>G c.1133C>G (p.Thr378Ser) c.3254C>G (p.Thr1085Ser) c.2525C>G (p.Thr842Ser) c.1685C>G (p.Thr562Ser) | |
| 16 | g.1520762G= | CA2201723761 | IFT140 | c.3500C= (p.Thr1167=) c.1082C= (p.Thr361=) c.*1938C= (n.*1938C=) n.3324C= c.1133C= (p.Thr378=) c.3254C= (p.Thr1085=) c.2525C= (p.Thr842=) c.1685C= (p.Thr562=) | |
| 16 | g.1520762G>T | CA394225022 | IFT140 | c.3500C>A (p.Thr1167Asn) c.1082C>A (p.Thr361Asn) c.*1938C>A (n.*1938C>A) n.3324C>A c.1133C>A (p.Thr378Asn) c.3254C>A (p.Thr1085Asn) c.2525C>A (p.Thr842Asn) c.1685C>A (p.Thr562Asn) | |
| 16 | g.1520763T>A | CA394225023 | IFT140 | c.3499A>T (p.Thr1167Ser) c.1081A>T (p.Thr361Ser) c.*1937A>T (n.*1937A>T) n.3323A>T c.1132A>T (p.Thr378Ser) c.3253A>T (p.Thr1085Ser) c.2524A>T (p.Thr842Ser) c.1684A>T (p.Thr562Ser) | |
| 16 | g.1520763T>C | CA394225024 | IFT140 | c.3499A>G (p.Thr1167Ala) c.1081A>G (p.Thr361Ala) c.*1937A>G (n.*1937A>G) n.3323A>G c.1132A>G (p.Thr378Ala) c.3253A>G (p.Thr1085Ala) c.2524A>G (p.Thr842Ala) c.1684A>G (p.Thr562Ala) | ClinVar dbSNP gnomAD v2 |
| 16 | g.1520763T>G | CA394225025 | IFT140 | c.3499A>C (p.Thr1167Pro) c.1081A>C (p.Thr361Pro) c.*1937A>C (n.*1937A>C) n.3323A>C c.1132A>C (p.Thr378Pro) c.3253A>C (p.Thr1085Pro) c.2524A>C (p.Thr842Pro) c.1684A>C (p.Thr562Pro) | |
| 16 | g.1520763T= | CA2201723762 | IFT140 | c.3499A= (p.Thr1167=) c.1081A= (p.Thr361=) c.*1937A= (n.*1937A=) n.3323A= c.1132A= (p.Thr378=) c.3253A= (p.Thr1085=) c.2524A= (p.Thr842=) c.1684A= (p.Thr562=) | |
| 16 | g.1520764G>A | CA492931930 | IFT140 | c.3498C>T (p.Ile1166=) c.1080C>T (p.Ile360=) c.*1936C>T (n.*1936C>T) n.3322C>T c.1131C>T (p.Ile377=) c.3252C>T (p.Ile1084=) c.2523C>T (p.Ile841=) c.1683C>T (p.Ile561=) | gnomAD v4 |
| 16 | g.1520764G>C | CA394225026 | IFT140 | c.3498C>G (p.Ile1166Met) c.1080C>G (p.Ile360Met) c.*1936C>G (n.*1936C>G) n.3322C>G c.1131C>G (p.Ile377Met) c.3252C>G (p.Ile1084Met) c.2523C>G (p.Ile841Met) c.1683C>G (p.Ile561Met) | |
| 16 | g.1520764G>T | CA492931929 | IFT140 | c.3498C>A (p.Ile1166=) c.1080C>A (p.Ile360=) c.*1936C>A (n.*1936C>A) n.3322C>A c.1131C>A (p.Ile377=) c.3252C>A (p.Ile1084=) c.2523C>A (p.Ile841=) c.1683C>A (p.Ile561=) | gnomAD v4 |
| 16 | g.1520765A= | CA2201723763 | IFT140 | c.3497T= (p.Ile1166=) c.1079T= (p.Ile360=) c.*1935T= (n.*1935T=) n.3321T= c.1130T= (p.Ile377=) c.3251T= (p.Ile1084=) c.2522T= (p.Ile841=) c.1682T= (p.Ile561=) | |
| 16 | g.1520765A>C | CA394225027 | IFT140 | c.3497T>G (p.Ile1166Ser) c.1079T>G (p.Ile360Ser) c.*1935T>G (n.*1935T>G) n.3321T>G c.1130T>G (p.Ile377Ser) c.3251T>G (p.Ile1084Ser) c.2522T>G (p.Ile841Ser) c.1682T>G (p.Ile561Ser) | |
| 16 | g.1520765A>G | CA394225028 | IFT140 | c.3497T>C (p.Ile1166Thr) c.1079T>C (p.Ile360Thr) c.*1935T>C (n.*1935T>C) n.3321T>C c.1130T>C (p.Ile377Thr) c.3251T>C (p.Ile1084Thr) c.2522T>C (p.Ile841Thr) c.1682T>C (p.Ile561Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520765A>T | CA394225029 | IFT140 | c.3497T>A (p.Ile1166Asn) c.1079T>A (p.Ile360Asn) c.*1935T>A (n.*1935T>A) n.3321T>A c.1130T>A (p.Ile377Asn) c.3251T>A (p.Ile1084Asn) c.2522T>A (p.Ile841Asn) c.1682T>A (p.Ile561Asn) | |
| 16 | g.1520766T>A | CA394225031 | IFT140 | c.3496A>T (p.Ile1166Phe) c.1078A>T (p.Ile360Phe) c.*1934A>T (n.*1934A>T) n.3320A>T c.1129A>T (p.Ile377Phe) c.3250A>T (p.Ile1084Phe) c.2521A>T (p.Ile841Phe) c.1681A>T (p.Ile561Phe) | gnomAD v4 |
| 16 | g.1520766T>C | CA7813135 | IFT140 | c.3496A>G (p.Ile1166Val) c.1078A>G (p.Ile360Val) c.*1934A>G (n.*1934A>G) n.3320A>G c.1129A>G (p.Ile377Val) c.3250A>G (p.Ile1084Val) c.2521A>G (p.Ile841Val) c.1681A>G (p.Ile561Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520766T>G | CA394225030 | IFT140 | c.3496A>C (p.Ile1166Leu) c.1078A>C (p.Ile360Leu) c.*1934A>C (n.*1934A>C) n.3320A>C c.1129A>C (p.Ile377Leu) c.3250A>C (p.Ile1084Leu) c.2521A>C (p.Ile841Leu) c.1681A>C (p.Ile561Leu) | |
| 16 | g.1520766T= | CA2201723764 | IFT140 | c.3496A= (p.Ile1166=) c.1078A= (p.Ile360=) c.*1934A= (n.*1934A=) n.3320A= c.1129A= (p.Ile377=) c.3250A= (p.Ile1084=) c.2521A= (p.Ile841=) c.1681A= (p.Ile561=) | |
| 16 | g.1520767G>A | CA492931934 | IFT140 | c.3495C>T (p.Ser1165=) c.1077C>T (p.Ser359=) c.*1933C>T (n.*1933C>T) n.3319C>T c.1128C>T (p.Ser376=) c.3249C>T (p.Ser1083=) c.2520C>T (p.Ser840=) c.1680C>T (p.Ser560=) | gnomAD v4 |
| 16 | g.1520767G>C | CA394225032 | IFT140 | c.3495C>G (p.Ser1165Arg) c.1077C>G (p.Ser359Arg) c.*1933C>G (n.*1933C>G) n.3319C>G c.1128C>G (p.Ser376Arg) c.3249C>G (p.Ser1083Arg) c.2520C>G (p.Ser840Arg) c.1680C>G (p.Ser560Arg) | |
| 16 | g.1520767G>T | CA394225033 | IFT140 | c.3495C>A (p.Ser1165Arg) c.1077C>A (p.Ser359Arg) c.*1933C>A (n.*1933C>A) n.3319C>A c.1128C>A (p.Ser376Arg) c.3249C>A (p.Ser1083Arg) c.2520C>A (p.Ser840Arg) c.1680C>A (p.Ser560Arg) | |
| 16 | g.1520768C>A | CA394225034 | IFT140 | c.3494G>T (p.Ser1165Ile) c.1076G>T (p.Ser359Ile) c.*1932G>T (n.*1932G>T) n.3318G>T c.1127G>T (p.Ser376Ile) c.3248G>T (p.Ser1083Ile) c.2519G>T (p.Ser840Ile) c.1679G>T (p.Ser560Ile) | gnomAD v4 |
| 16 | g.1520768C>G | CA394225035 | IFT140 | c.3494G>C (p.Ser1165Thr) c.1076G>C (p.Ser359Thr) c.*1932G>C (n.*1932G>C) n.3318G>C c.1127G>C (p.Ser376Thr) c.3248G>C (p.Ser1083Thr) c.2519G>C (p.Ser840Thr) c.1679G>C (p.Ser560Thr) | |
| 16 | g.1520768C>T | CA394225036 | IFT140 | c.3494G>A (p.Ser1165Asn) c.1076G>A (p.Ser359Asn) c.*1932G>A (n.*1932G>A) n.3318G>A c.1127G>A (p.Ser376Asn) c.3248G>A (p.Ser1083Asn) c.2519G>A (p.Ser840Asn) c.1679G>A (p.Ser560Asn) | gnomAD v4 |
| 16 | g.1520769del | CA2631006494 | IFT140 | c.3493del (p.Ser1165AlafsTer10) c.1075del (p.Ser359AlafsTer10) c.*1931del (n.*1931del) n.3317del c.1126del (p.Ser376AlafsTer10) c.3247del (p.Ser1083AlafsTer10) c.2518del (p.Ser840AlafsTer10) c.1678del (p.Ser560AlafsTer10) | gnomAD v4 |
| 16 | g.1520769T>A | CA394225037 | IFT140 | c.3493A>T (p.Ser1165Cys) c.1075A>T (p.Ser359Cys) c.*1931A>T (n.*1931A>T) n.3317A>T c.1126A>T (p.Ser376Cys) c.3247A>T (p.Ser1083Cys) c.2518A>T (p.Ser840Cys) c.1678A>T (p.Ser560Cys) | |
| 16 | g.1520769T>C | CA394225038 | IFT140 | c.3493A>G (p.Ser1165Gly) c.1075A>G (p.Ser359Gly) c.*1931A>G (n.*1931A>G) n.3317A>G c.1126A>G (p.Ser376Gly) c.3247A>G (p.Ser1083Gly) c.2518A>G (p.Ser840Gly) c.1678A>G (p.Ser560Gly) | gnomAD v4 |
| 16 | g.1520769T>G | CA394225039 | IFT140 | c.3493A>C (p.Ser1165Arg) c.1075A>C (p.Ser359Arg) c.*1931A>C (n.*1931A>C) n.3317A>C c.1126A>C (p.Ser376Arg) c.3247A>C (p.Ser1083Arg) c.2518A>C (p.Ser840Arg) c.1678A>C (p.Ser560Arg) | |
| 16 | g.1520770C>A | CA394225040 | IFT140 | c.3492G>T (p.Met1164Ile) c.1074G>T (p.Met358Ile) c.*1930G>T (n.*1930G>T) n.3316G>T c.1125G>T (p.Met375Ile) c.3246G>T (p.Met1082Ile) c.2517G>T (p.Met839Ile) c.1677G>T (p.Met559Ile) | |
| 16 | g.1520770C= | CA2201723765 | IFT140 | c.3492G= (p.Met1164=) c.1074G= (p.Met358=) c.*1930G= (n.*1930G=) n.3316G= c.1125G= (p.Met375=) c.3246G= (p.Met1082=) c.2517G= (p.Met839=) c.1677G= (p.Met559=) | |
| 16 | g.1520770C>G | CA394225041 | IFT140 | c.3492G>C (p.Met1164Ile) c.1074G>C (p.Met358Ile) c.*1930G>C (n.*1930G>C) n.3316G>C c.1125G>C (p.Met375Ile) c.3246G>C (p.Met1082Ile) c.2517G>C (p.Met839Ile) c.1677G>C (p.Met559Ile) | |
| 16 | g.1520770C>T | CA394225042 | IFT140 | c.3492G>A (p.Met1164Ile) c.1074G>A (p.Met358Ile) c.*1930G>A (n.*1930G>A) n.3316G>A c.1125G>A (p.Met375Ile) c.3246G>A (p.Met1082Ile) c.2517G>A (p.Met839Ile) c.1677G>A (p.Met559Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1520771A>C | CA394225043 | IFT140 | c.3491T>G (p.Met1164Arg) c.1073T>G (p.Met358Arg) c.*1929T>G (n.*1929T>G) n.3315T>G c.1124T>G (p.Met375Arg) c.3245T>G (p.Met1082Arg) c.2516T>G (p.Met839Arg) c.1676T>G (p.Met559Arg) | gnomAD v4 |
| 16 | g.1520771A>G | CA394225044 | IFT140 | c.3491T>C (p.Met1164Thr) c.1073T>C (p.Met358Thr) c.*1929T>C (n.*1929T>C) n.3315T>C c.1124T>C (p.Met375Thr) c.3245T>C (p.Met1082Thr) c.2516T>C (p.Met839Thr) c.1676T>C (p.Met559Thr) | gnomAD v4 |
| 16 | g.1520771A>T | CA394225045 | IFT140 | c.3491T>A (p.Met1164Lys) c.1073T>A (p.Met358Lys) c.*1929T>A (n.*1929T>A) n.3315T>A c.1124T>A (p.Met375Lys) c.3245T>A (p.Met1082Lys) c.2516T>A (p.Met839Lys) c.1676T>A (p.Met559Lys) | gnomAD v4 |
| 16 | g.1520772T>A | CA394225047 | IFT140 | c.3490A>T (p.Met1164Leu) c.1072A>T (p.Met358Leu) c.*1928A>T (n.*1928A>T) n.3314A>T c.1123A>T (p.Met375Leu) c.3244A>T (p.Met1082Leu) c.2515A>T (p.Met839Leu) c.1675A>T (p.Met559Leu) | |
| 16 | g.1520772T>C | CA7813136 | IFT140 | c.3490A>G (p.Met1164Val) c.1072A>G (p.Met358Val) c.*1928A>G (n.*1928A>G) n.3314A>G c.1123A>G (p.Met375Val) c.3244A>G (p.Met1082Val) c.2515A>G (p.Met839Val) c.1675A>G (p.Met559Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1520772T>G | CA394225046 | IFT140 | c.3490A>C (p.Met1164Leu) c.1072A>C (p.Met358Leu) c.*1928A>C (n.*1928A>C) n.3314A>C c.1123A>C (p.Met375Leu) c.3244A>C (p.Met1082Leu) c.2515A>C (p.Met839Leu) c.1675A>C (p.Met559Leu) | |
| 16 | g.1520772T= | CA2201723766 | IFT140 | c.3490A= (p.Met1164=) c.1072A= (p.Met358=) c.*1928A= (n.*1928A=) n.3314A= c.1123A= (p.Met375=) c.3244A= (p.Met1082=) c.2515A= (p.Met839=) c.1675A= (p.Met559=) | |
| 16 | g.1520773del | CA2573151757 | IFT140 | c.3489del (p.Asn1163LysfsTer2) c.1071del (p.Asn357LysfsTer2) c.*1927del (n.*1927del) n.3313del c.1122del (p.Asn374LysfsTer2) c.3243del (p.Asn1081LysfsTer2) c.2514del (p.Asn838LysfsTer2) c.1674del (p.Asn558LysfsTer2) | ClinVar dbSNP |
| 16 | g.1520773G>A | CA492931937 | IFT140 | c.3489C>T (p.Asn1163=) c.1071C>T (p.Asn357=) c.*1927C>T (n.*1927C>T) n.3313C>T c.1122C>T (p.Asn374=) c.3243C>T (p.Asn1081=) c.2514C>T (p.Asn838=) c.1674C>T (p.Asn558=) | |
| 16 | g.1520773G>C | CA394225049 | IFT140 | c.3489C>G (p.Asn1163Lys) c.1071C>G (p.Asn357Lys) c.*1927C>G (n.*1927C>G) n.3313C>G c.1122C>G (p.Asn374Lys) c.3243C>G (p.Asn1081Lys) c.2514C>G (p.Asn838Lys) c.1674C>G (p.Asn558Lys) | |
| 16 | g.1520773G>T | CA394225048 | IFT140 | c.3489C>A (p.Asn1163Lys) c.1071C>A (p.Asn357Lys) c.*1927C>A (n.*1927C>A) n.3313C>A c.1122C>A (p.Asn374Lys) c.3243C>A (p.Asn1081Lys) c.2514C>A (p.Asn838Lys) c.1674C>A (p.Asn558Lys) | gnomAD v4 COSMIC |
| 16 | g.1520774T>A | CA394225051 | IFT140 | c.3488A>T (p.Asn1163Ile) c.1070A>T (p.Asn357Ile) c.*1926A>T (n.*1926A>T) n.3312A>T c.1121A>T (p.Asn374Ile) c.3242A>T (p.Asn1081Ile) c.2513A>T (p.Asn838Ile) c.1673A>T (p.Asn558Ile) | |
| 16 | g.1520774T>C | CA394225050 | IFT140 | c.3488A>G (p.Asn1163Ser) c.1070A>G (p.Asn357Ser) c.*1926A>G (n.*1926A>G) n.3312A>G c.1121A>G (p.Asn374Ser) c.3242A>G (p.Asn1081Ser) c.2513A>G (p.Asn838Ser) c.1673A>G (p.Asn558Ser) | |
| 16 | g.1520774T>G | CA394225052 | IFT140 | c.3488A>C (p.Asn1163Thr) c.1070A>C (p.Asn357Thr) c.*1926A>C (n.*1926A>C) n.3312A>C c.1121A>C (p.Asn374Thr) c.3242A>C (p.Asn1081Thr) c.2513A>C (p.Asn838Thr) c.1673A>C (p.Asn558Thr) | |
| 16 | g.1520775T>A | CA394225053 | IFT140 | c.3487A>T (p.Asn1163Tyr) c.1069A>T (p.Asn357Tyr) c.*1925A>T (n.*1925A>T) n.3311A>T c.1120A>T (p.Asn374Tyr) c.3241A>T (p.Asn1081Tyr) c.2512A>T (p.Asn838Tyr) c.1672A>T (p.Asn558Tyr) | |
| 16 | g.1520775T>C | CA394225055 | IFT140 | c.3487A>G (p.Asn1163Asp) c.1069A>G (p.Asn357Asp) c.*1925A>G (n.*1925A>G) n.3311A>G c.1120A>G (p.Asn374Asp) c.3241A>G (p.Asn1081Asp) c.2512A>G (p.Asn838Asp) c.1672A>G (p.Asn558Asp) | |
| 16 | g.1520775T>G | CA394225054 | IFT140 | c.3487A>C (p.Asn1163His) c.1069A>C (p.Asn357His) c.*1925A>C (n.*1925A>C) n.3311A>C c.1120A>C (p.Asn374His) c.3241A>C (p.Asn1081His) c.2512A>C (p.Asn838His) c.1672A>C (p.Asn558His) | |
| 16 | g.1520776C>A | CA394225056 | IFT140 | c.3486G>T (p.Gln1162His) c.1068G>T (p.Gln356His) c.*1924G>T (n.*1924G>T) n.3310G>T c.1119G>T (p.Gln373His) c.3240G>T (p.Gln1080His) c.2511G>T (p.Gln837His) c.1671G>T (p.Gln557His) | gnomAD v4 |
| 16 | g.1520776C>G | CA394225057 | IFT140 | c.3486G>C (p.Gln1162His) c.1068G>C (p.Gln356His) c.*1924G>C (n.*1924G>C) n.3310G>C c.1119G>C (p.Gln373His) c.3240G>C (p.Gln1080His) c.2511G>C (p.Gln837His) c.1671G>C (p.Gln557His) | |
| 16 | g.1520776C>T | CA492931942 | IFT140 | c.3486G>A (p.Gln1162=) c.1068G>A (p.Gln356=) c.*1924G>A (n.*1924G>A) n.3310G>A c.1119G>A (p.Gln373=) c.3240G>A (p.Gln1080=) c.2511G>A (p.Gln837=) c.1671G>A (p.Gln557=) | |
| 16 | g.1520777T>A | CA394225058 | IFT140 | c.3485A>T (p.Gln1162Leu) c.1067A>T (p.Gln356Leu) c.*1923A>T (n.*1923A>T) n.3309A>T c.1118A>T (p.Gln373Leu) c.3239A>T (p.Gln1080Leu) c.2510A>T (p.Gln837Leu) c.1670A>T (p.Gln557Leu) | |
| 16 | g.1520777T>C | CA394225059 | IFT140 | c.3485A>G (p.Gln1162Arg) c.1067A>G (p.Gln356Arg) c.*1923A>G (n.*1923A>G) n.3309A>G c.1118A>G (p.Gln373Arg) c.3239A>G (p.Gln1080Arg) c.2510A>G (p.Gln837Arg) c.1670A>G (p.Gln557Arg) | gnomAD v4 |
| 16 | g.1520777T>G | CA394225060 | IFT140 | c.3485A>C (p.Gln1162Pro) c.1067A>C (p.Gln356Pro) c.*1923A>C (n.*1923A>C) n.3309A>C c.1118A>C (p.Gln373Pro) c.3239A>C (p.Gln1080Pro) c.2510A>C (p.Gln837Pro) c.1670A>C (p.Gln557Pro) | |
| 16 | g.1520778G>A | CA394225061 | IFT140 | c.3484C>T (p.Gln1162Ter) c.1066C>T (p.Gln356Ter) c.*1922C>T (n.*1922C>T) n.3308C>T c.1117C>T (p.Gln373Ter) c.3238C>T (p.Gln1080Ter) c.2509C>T (p.Gln837Ter) c.1669C>T (p.Gln557Ter) | gnomAD v4 COSMIC |
| 16 | g.1520778G>C | CA394225062 | IFT140 | c.3484C>G (p.Gln1162Glu) c.1066C>G (p.Gln356Glu) c.*1922C>G (n.*1922C>G) n.3308C>G c.1117C>G (p.Gln373Glu) c.3238C>G (p.Gln1080Glu) c.2509C>G (p.Gln837Glu) c.1669C>G (p.Gln557Glu) | |
| 16 | g.1520778G>T | CA394225063 | IFT140 | c.3484C>A (p.Gln1162Lys) c.1066C>A (p.Gln356Lys) c.*1922C>A (n.*1922C>A) n.3308C>A c.1117C>A (p.Gln373Lys) c.3238C>A (p.Gln1080Lys) c.2509C>A (p.Gln837Lys) c.1669C>A (p.Gln557Lys) | gnomAD v4 |
| 16 | g.1520779C>A | CA492931943 | IFT140 | c.3483G>T (p.Gly1161=) c.1065G>T (p.Gly355=) c.*1921G>T (n.*1921G>T) n.3307G>T c.1116G>T (p.Gly372=) c.3237G>T (p.Gly1079=) c.2508G>T (p.Gly836=) c.1668G>T (p.Gly556=) | gnomAD v4 |
| 16 | g.1520779C>G | CA492931944 | IFT140 | c.3483G>C (p.Gly1161=) c.1065G>C (p.Gly355=) c.*1921G>C (n.*1921G>C) n.3307G>C c.1116G>C (p.Gly372=) c.3237G>C (p.Gly1079=) c.2508G>C (p.Gly836=) c.1668G>C (p.Gly556=) | |
| 16 | g.1520779C>T | CA492931945 | IFT140 | c.3483G>A (p.Gly1161=) c.1065G>A (p.Gly355=) c.*1921G>A (n.*1921G>A) n.3307G>A c.1116G>A (p.Gly372=) c.3237G>A (p.Gly1079=) c.2508G>A (p.Gly836=) c.1668G>A (p.Gly556=) | gnomAD v4 |
| 16 | g.1520780C>A | CA394225064 | IFT140 | c.3482G>T (p.Gly1161Val) c.1064G>T (p.Gly355Val) c.*1920G>T (n.*1920G>T) n.3306G>T c.1115G>T (p.Gly372Val) c.3236G>T (p.Gly1079Val) c.2507G>T (p.Gly836Val) c.1667G>T (p.Gly556Val) | |
| 16 | g.1520780C>G | CA394225065 | IFT140 | c.3482G>C (p.Gly1161Ala) c.1064G>C (p.Gly355Ala) c.*1920G>C (n.*1920G>C) n.3306G>C c.1115G>C (p.Gly372Ala) c.3236G>C (p.Gly1079Ala) c.2507G>C (p.Gly836Ala) c.1667G>C (p.Gly556Ala) | |
| 16 | g.1520780C>T | CA394225066 | IFT140 | c.3482G>A (p.Gly1161Glu) c.1064G>A (p.Gly355Glu) c.*1920G>A (n.*1920G>A) n.3306G>A c.1115G>A (p.Gly372Glu) c.3236G>A (p.Gly1079Glu) c.2507G>A (p.Gly836Glu) c.1667G>A (p.Gly556Glu) | dbSNP |
| 16 | g.1520781C>A | CA394225069 | IFT140 | c.3481G>T (p.Gly1161Trp) c.1063G>T (p.Gly355Trp) c.*1919G>T (n.*1919G>T) n.3305G>T c.1114G>T (p.Gly372Trp) c.3235G>T (p.Gly1079Trp) c.2506G>T (p.Gly836Trp) c.1666G>T (p.Gly556Trp) | |
| 16 | g.1520781C= | CA2201723767 | IFT140 | c.3481G= (p.Gly1161=) c.1063G= (p.Gly355=) c.*1919G= (n.*1919G=) n.3305G= c.1114G= (p.Gly372=) c.3235G= (p.Gly1079=) c.2506G= (p.Gly836=) c.1666G= (p.Gly556=) | |
| 16 | g.1520781C>G | CA394225067 | IFT140 | c.3481G>C (p.Gly1161Arg) c.1063G>C (p.Gly355Arg) c.*1919G>C (n.*1919G>C) n.3305G>C c.1114G>C (p.Gly372Arg) c.3235G>C (p.Gly1079Arg) c.2506G>C (p.Gly836Arg) c.1666G>C (p.Gly556Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1520781C>T | CA394225068 | IFT140 | c.3481G>A (p.Gly1161Arg) c.1063G>A (p.Gly355Arg) c.*1919G>A (n.*1919G>A) n.3305G>A c.1114G>A (p.Gly372Arg) c.3235G>A (p.Gly1079Arg) c.2506G>A (p.Gly836Arg) c.1666G>A (p.Gly556Arg) | |
| 16 | g.1520782C>A | CA492931948 | IFT140 | c.3480G>T (p.Leu1160=) c.1062G>T (p.Leu354=) c.*1918G>T (n.*1918G>T) n.3304G>T c.1113G>T (p.Leu371=) c.3234G>T (p.Leu1078=) c.2505G>T (p.Leu835=) c.1665G>T (p.Leu555=) | gnomAD v4 |
| 16 | g.1520782C>G | CA492931949 | IFT140 | c.3480G>C (p.Leu1160=) c.1062G>C (p.Leu354=) c.*1918G>C (n.*1918G>C) n.3304G>C c.1113G>C (p.Leu371=) c.3234G>C (p.Leu1078=) c.2505G>C (p.Leu835=) c.1665G>C (p.Leu555=) | |
| 16 | g.1520782C>T | CA492931950 | IFT140 | c.3480G>A (p.Leu1160=) c.1062G>A (p.Leu354=) c.*1918G>A (n.*1918G>A) n.3304G>A c.1113G>A (p.Leu371=) c.3234G>A (p.Leu1078=) c.2505G>A (p.Leu835=) c.1665G>A (p.Leu555=) | gnomAD v4 |