WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.1510949_1510952delinsGGTC | CA2201718334 | IFT140 | c.4381_4384delinsGACC (p.Asp1461=) c.1963_1966delinsGACC (p.Asp655=) c.*2819_*2822delinsGACC (n.*2819_*2822delinsGACC) n.4205_4208delinsGACC c.2014_2017delinsGACC (p.Asp672=) c.4135_4138delinsGACC (p.Asp1379=) c.3406_3409delinsGACC (p.Asp1136=) c.2566_2569delinsGACC (p.Asp856=) | |
| 16 | g.1510953_1510955del | CA7812762 | IFT140 | c.4381_4383del (p.Asp1461del) c.1963_1965del (p.Asp655del) c.*2819_*2821del (n.*2819_*2821del) n.4205_4207del c.2014_2016del (p.Asp672del) c.4135_4137del (p.Asp1379del) c.3406_3408del (p.Asp1136del) c.2566_2568del (p.Asp856del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510952C>A | CA394222187 | IFT140 | c.4381G>T (p.Asp1461Tyr) c.1963G>T (p.Asp655Tyr) c.*2819G>T (n.*2819G>T) n.4205G>T c.2014G>T (p.Asp672Tyr) c.4135G>T (p.Asp1379Tyr) c.3406G>T (p.Asp1136Tyr) c.2566G>T (p.Asp856Tyr) | |
| 16 | g.1510952C= | CA2201718338 | IFT140 | c.4381G= (p.Asp1461=) c.1963G= (p.Asp655=) c.*2819G= (n.*2819G=) n.4205G= c.2014G= (p.Asp672=) c.4135G= (p.Asp1379=) c.3406G= (p.Asp1136=) c.2566G= (p.Asp856=) | |
| 16 | g.1510952C>G | CA394222188 | IFT140 | c.4381G>C (p.Asp1461His) c.1963G>C (p.Asp655His) c.*2819G>C (n.*2819G>C) n.4205G>C c.2014G>C (p.Asp672His) c.4135G>C (p.Asp1379His) c.3406G>C (p.Asp1136His) c.2566G>C (p.Asp856His) | dbSNP gnomAD v4 |
| 16 | g.1510952C>T | CA7812764 | IFT140 | c.4381G>A (p.Asp1461Asn) c.1963G>A (p.Asp655Asn) c.*2819G>A (n.*2819G>A) n.4205G>A c.2014G>A (p.Asp672Asn) c.4135G>A (p.Asp1379Asn) c.3406G>A (p.Asp1136Asn) c.2566G>A (p.Asp856Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510953G>A | CA7812765 | IFT140 | c.4380C>T (p.Asp1460=) c.1962C>T (p.Asp654=) c.*2818C>T (n.*2818C>T) n.4204C>T c.2013C>T (p.Asp671=) c.4134C>T (p.Asp1378=) c.3405C>T (p.Asp1135=) c.2565C>T (p.Asp855=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.1510953G>C | CA394222189 | IFT140 | c.4380C>G (p.Asp1460Glu) c.1962C>G (p.Asp654Glu) c.*2818C>G (n.*2818C>G) n.4204C>G c.2013C>G (p.Asp671Glu) c.4134C>G (p.Asp1378Glu) c.3405C>G (p.Asp1135Glu) c.2565C>G (p.Asp855Glu) | |
| 16 | g.1510953G= | CA2201718339 | IFT140 | c.4380C= (p.Asp1460=) c.1962C= (p.Asp654=) c.*2818C= (n.*2818C=) n.4204C= c.2013C= (p.Asp671=) c.4134C= (p.Asp1378=) c.3405C= (p.Asp1135=) c.2565C= (p.Asp855=) | |
| 16 | g.1510953G>T | CA394222190 | IFT140 | c.4380C>A (p.Asp1460Glu) c.1962C>A (p.Asp654Glu) c.*2818C>A (n.*2818C>A) n.4204C>A c.2013C>A (p.Asp671Glu) c.4134C>A (p.Asp1378Glu) c.3405C>A (p.Asp1135Glu) c.2565C>A (p.Asp855Glu) | |
| 16 | g.1510954T>A | CA394222191 | IFT140 | c.4379A>T (p.Asp1460Val) c.1961A>T (p.Asp654Val) c.*2817A>T (n.*2817A>T) n.4203A>T c.2012A>T (p.Asp671Val) c.4133A>T (p.Asp1378Val) c.3404A>T (p.Asp1135Val) c.2564A>T (p.Asp855Val) | |
| 16 | g.1510954T>C | CA7812766 | IFT140 | c.4379A>G (p.Asp1460Gly) c.1961A>G (p.Asp654Gly) c.*2817A>G (n.*2817A>G) n.4203A>G c.2012A>G (p.Asp671Gly) c.4133A>G (p.Asp1378Gly) c.3404A>G (p.Asp1135Gly) c.2564A>G (p.Asp855Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510954T>G | CA394222192 | IFT140 | c.4379A>C (p.Asp1460Ala) c.1961A>C (p.Asp654Ala) c.*2817A>C (n.*2817A>C) n.4203A>C c.2012A>C (p.Asp671Ala) c.4133A>C (p.Asp1378Ala) c.3404A>C (p.Asp1135Ala) c.2564A>C (p.Asp855Ala) | |
| 16 | g.1510954T= | CA2201718340 | IFT140 | c.4379A= (p.Asp1460=) c.1961A= (p.Asp654=) c.*2817A= (n.*2817A=) n.4203A= c.2012A= (p.Asp671=) c.4133A= (p.Asp1378=) c.3404A= (p.Asp1135=) c.2564A= (p.Asp855=) | |
| 16 | g.1510955C>A | CA394222193 | IFT140 | c.4378G>T (p.Asp1460Tyr) c.1960G>T (p.Asp654Tyr) c.*2816G>T (n.*2816G>T) n.4202G>T c.2011G>T (p.Asp671Tyr) c.4132G>T (p.Asp1378Tyr) c.3403G>T (p.Asp1135Tyr) c.2563G>T (p.Asp855Tyr) | gnomAD v4 |
| 16 | g.1510955C= | CA2201718341 | IFT140 | c.4378G= (p.Asp1460=) c.1960G= (p.Asp654=) c.*2816G= (n.*2816G=) n.4202G= c.2011G= (p.Asp671=) c.4132G= (p.Asp1378=) c.3403G= (p.Asp1135=) c.2563G= (p.Asp855=) | |
| 16 | g.1510955C>G | CA7812769 | IFT140 | c.4378G>C (p.Asp1460His) c.1960G>C (p.Asp654His) c.*2816G>C (n.*2816G>C) n.4202G>C c.2011G>C (p.Asp671His) c.4132G>C (p.Asp1378His) c.3403G>C (p.Asp1135His) c.2563G>C (p.Asp855His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1510955C>T | CA7812767 | IFT140 | c.4378G>A (p.Asp1460Asn) c.1960G>A (p.Asp654Asn) c.*2816G>A (n.*2816G>A) n.4202G>A c.2011G>A (p.Asp671Asn) c.4132G>A (p.Asp1378Asn) c.3403G>A (p.Asp1135Asn) c.2563G>A (p.Asp855Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510955_1510956insT | CA7812768 | IFT140 | c.4377_4378insA (p.Asp1460ArgfsTer?) c.1959_1960insA (p.Asp654ArgfsTer?) c.*2815_*2816insA (n.*2815_*2816insA) n.4201_4202insA c.2010_2011insA (p.Asp671ArgfsTer?) c.4131_4132insA (p.Asp1378ArgfsTer?) c.3402_3403insA (p.Asp1135ArgfsTer?) c.2562_2563insA (p.Asp855ArgfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510956A>C | CA394222194 | IFT140 | c.4377T>G (p.Asp1459Glu) c.1959T>G (p.Asp653Glu) c.*2815T>G (n.*2815T>G) n.4201T>G c.2010T>G (p.Asp670Glu) c.4131T>G (p.Asp1377Glu) c.3402T>G (p.Asp1134Glu) c.2562T>G (p.Asp854Glu) | |
| 16 | g.1510956A>G | CA493031326 | IFT140 | c.4377T>C (p.Asp1459=) c.1959T>C (p.Asp653=) c.*2815T>C (n.*2815T>C) n.4201T>C c.2010T>C (p.Asp670=) c.4131T>C (p.Asp1377=) c.3402T>C (p.Asp1134=) c.2562T>C (p.Asp854=) | |
| 16 | g.1510956A>T | CA394222195 | IFT140 | c.4377T>A (p.Asp1459Glu) c.1959T>A (p.Asp653Glu) c.*2815T>A (n.*2815T>A) n.4201T>A c.2010T>A (p.Asp670Glu) c.4131T>A (p.Asp1377Glu) c.3402T>A (p.Asp1134Glu) c.2562T>A (p.Asp854Glu) | |
| 16 | g.1510957T>A | CA394222196 | IFT140 | c.4376A>T (p.Asp1459Val) c.1958A>T (p.Asp653Val) c.*2814A>T (n.*2814A>T) n.4200A>T c.2009A>T (p.Asp670Val) c.4130A>T (p.Asp1377Val) c.3401A>T (p.Asp1134Val) c.2561A>T (p.Asp854Val) | gnomAD v4 |
| 16 | g.1510957T>C | CA394222197 | IFT140 | c.4376A>G (p.Asp1459Gly) c.1958A>G (p.Asp653Gly) c.*2814A>G (n.*2814A>G) n.4200A>G c.2009A>G (p.Asp670Gly) c.4130A>G (p.Asp1377Gly) c.3401A>G (p.Asp1134Gly) c.2561A>G (p.Asp854Gly) | |
| 16 | g.1510957T>G | CA394222198 | IFT140 | c.4376A>C (p.Asp1459Ala) c.1958A>C (p.Asp653Ala) c.*2814A>C (n.*2814A>C) n.4200A>C c.2009A>C (p.Asp670Ala) c.4130A>C (p.Asp1377Ala) c.3401A>C (p.Asp1134Ala) c.2561A>C (p.Asp854Ala) | |
| 16 | g.1510958C>A | CA394222199 | IFT140 | c.4375G>T (p.Asp1459Tyr) c.1957G>T (p.Asp653Tyr) c.*2813G>T (n.*2813G>T) n.4199G>T c.2008G>T (p.Asp670Tyr) c.4129G>T (p.Asp1377Tyr) c.3400G>T (p.Asp1134Tyr) c.2560G>T (p.Asp854Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510958C= | CA2201718342 | IFT140 | c.4375G= (p.Asp1459=) c.1957G= (p.Asp653=) c.*2813G= (n.*2813G=) n.4199G= c.2008G= (p.Asp670=) c.4129G= (p.Asp1377=) c.3400G= (p.Asp1134=) c.2560G= (p.Asp854=) | |
| 16 | g.1510958C>G | CA7812770 | IFT140 | c.4375G>C (p.Asp1459His) c.1957G>C (p.Asp653His) c.*2813G>C (n.*2813G>C) n.4199G>C c.2008G>C (p.Asp670His) c.4129G>C (p.Asp1377His) c.3400G>C (p.Asp1134His) c.2560G>C (p.Asp854His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1510958C>T | CA394222200 | IFT140 | c.4375G>A (p.Asp1459Asn) c.1957G>A (p.Asp653Asn) c.*2813G>A (n.*2813G>A) n.4199G>A c.2008G>A (p.Asp670Asn) c.4129G>A (p.Asp1377Asn) c.3400G>A (p.Asp1134Asn) c.2560G>A (p.Asp854Asn) | |
| 16 | g.1510959T>A | CA493031330 | IFT140 | c.4374A>T (p.Ala1458=) c.1956A>T (p.Ala652=) c.*2812A>T (n.*2812A>T) n.4198A>T c.2007A>T (p.Ala669=) c.4128A>T (p.Ala1376=) c.3399A>T (p.Ala1133=) c.2559A>T (p.Ala853=) | |
| 16 | g.1510959T>C | CA493031331 | IFT140 | c.4374A>G (p.Ala1458=) c.1956A>G (p.Ala652=) c.*2812A>G (n.*2812A>G) n.4198A>G c.2007A>G (p.Ala669=) c.4128A>G (p.Ala1376=) c.3399A>G (p.Ala1133=) c.2559A>G (p.Ala853=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510959T>G | CA493031332 | IFT140 | c.4374A>C (p.Ala1458=) c.1956A>C (p.Ala652=) c.*2812A>C (n.*2812A>C) n.4198A>C c.2007A>C (p.Ala669=) c.4128A>C (p.Ala1376=) c.3399A>C (p.Ala1133=) c.2559A>C (p.Ala853=) | |
| 16 | g.1510959T= | CA2201718343 | IFT140 | c.4374A= (p.Ala1458=) c.1956A= (p.Ala652=) c.*2812A= (n.*2812A=) n.4198A= c.2007A= (p.Ala669=) c.4128A= (p.Ala1376=) c.3399A= (p.Ala1133=) c.2559A= (p.Ala853=) | |
| 16 | g.1510960G>A | CA394222201 | IFT140 | c.4373C>T (p.Ala1458Val) c.1955C>T (p.Ala652Val) c.*2811C>T (n.*2811C>T) n.4197C>T c.2006C>T (p.Ala669Val) c.4127C>T (p.Ala1376Val) c.3398C>T (p.Ala1133Val) c.2558C>T (p.Ala853Val) | dbSNP |
| 16 | g.1510960G>C | CA394222202 | IFT140 | c.4373C>G (p.Ala1458Gly) c.1955C>G (p.Ala652Gly) c.*2811C>G (n.*2811C>G) n.4197C>G c.2006C>G (p.Ala669Gly) c.4127C>G (p.Ala1376Gly) c.3398C>G (p.Ala1133Gly) c.2558C>G (p.Ala853Gly) | |
| 16 | g.1510960G= | CA2201718344 | IFT140 | c.4373C= (p.Ala1458=) c.1955C= (p.Ala652=) c.*2811C= (n.*2811C=) n.4197C= c.2006C= (p.Ala669=) c.4127C= (p.Ala1376=) c.3398C= (p.Ala1133=) c.2558C= (p.Ala853=) | |
| 16 | g.1510960G>T | CA394222203 | IFT140 | c.4373C>A (p.Ala1458Glu) c.1955C>A (p.Ala652Glu) c.*2811C>A (n.*2811C>A) n.4197C>A c.2006C>A (p.Ala669Glu) c.4127C>A (p.Ala1376Glu) c.3398C>A (p.Ala1133Glu) c.2558C>A (p.Ala853Glu) | |
| 16 | g.1510961C>A | CA394222206 | IFT140 | c.4372G>T (p.Ala1458Ser) c.1954G>T (p.Ala652Ser) c.*2810G>T (n.*2810G>T) n.4196G>T c.2005G>T (p.Ala669Ser) c.4126G>T (p.Ala1376Ser) c.3397G>T (p.Ala1133Ser) c.2557G>T (p.Ala853Ser) | |
| 16 | g.1510961C= | CA2201718345 | IFT140 | c.4372G= (p.Ala1458=) c.1954G= (p.Ala652=) c.*2810G= (n.*2810G=) n.4196G= c.2005G= (p.Ala669=) c.4126G= (p.Ala1376=) c.3397G= (p.Ala1133=) c.2557G= (p.Ala853=) | |
| 16 | g.1510961C>G | CA394222205 | IFT140 | c.4372G>C (p.Ala1458Pro) c.1954G>C (p.Ala652Pro) c.*2810G>C (n.*2810G>C) n.4196G>C c.2005G>C (p.Ala669Pro) c.4126G>C (p.Ala1376Pro) c.3397G>C (p.Ala1133Pro) c.2557G>C (p.Ala853Pro) | |
| 16 | g.1510961C>T | CA394222204 | IFT140 | c.4372G>A (p.Ala1458Thr) c.1954G>A (p.Ala652Thr) c.*2810G>A (n.*2810G>A) n.4196G>A c.2005G>A (p.Ala669Thr) c.4126G>A (p.Ala1376Thr) c.3397G>A (p.Ala1133Thr) c.2557G>A (p.Ala853Thr) | dbSNP gnomAD v4 |
| 16 | g.1510962C>A | CA394222207 | IFT140 | c.4371G>T (p.Glu1457Asp) c.1953G>T (p.Glu651Asp) c.*2809G>T (n.*2809G>T) n.4195G>T c.2004G>T (p.Glu668Asp) c.4125G>T (p.Glu1375Asp) c.3396G>T (p.Glu1132Asp) c.2556G>T (p.Glu852Asp) | |
| 16 | g.1510962C= | CA2201718346 | IFT140 | c.4371G= (p.Glu1457=) c.1953G= (p.Glu651=) c.*2809G= (n.*2809G=) n.4195G= c.2004G= (p.Glu668=) c.4125G= (p.Glu1375=) c.3396G= (p.Glu1132=) c.2556G= (p.Glu852=) | |
| 16 | g.1510962C>G | CA394222208 | IFT140 | c.4371G>C (p.Glu1457Asp) c.1953G>C (p.Glu651Asp) c.*2809G>C (n.*2809G>C) n.4195G>C c.2004G>C (p.Glu668Asp) c.4125G>C (p.Glu1375Asp) c.3396G>C (p.Glu1132Asp) c.2556G>C (p.Glu852Asp) | |
| 16 | g.1510962C>T | CA493031335 | IFT140 | c.4371G>A (p.Glu1457=) c.1953G>A (p.Glu651=) c.*2809G>A (n.*2809G>A) n.4195G>A c.2004G>A (p.Glu668=) c.4125G>A (p.Glu1375=) c.3396G>A (p.Glu1132=) c.2556G>A (p.Glu852=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1510963T>A | CA394222209 | IFT140 | c.4370A>T (p.Glu1457Val) c.1952A>T (p.Glu651Val) c.*2808A>T (n.*2808A>T) n.4194A>T c.2003A>T (p.Glu668Val) c.4124A>T (p.Glu1375Val) c.3395A>T (p.Glu1132Val) c.2555A>T (p.Glu852Val) | gnomAD v4 |
| 16 | g.1510963T>C | CA394222211 | IFT140 | c.4370A>G (p.Glu1457Gly) c.1952A>G (p.Glu651Gly) c.*2808A>G (n.*2808A>G) n.4194A>G c.2003A>G (p.Glu668Gly) c.4124A>G (p.Glu1375Gly) c.3395A>G (p.Glu1132Gly) c.2555A>G (p.Glu852Gly) | |
| 16 | g.1510963T>G | CA394222210 | IFT140 | c.4370A>C (p.Glu1457Ala) c.1952A>C (p.Glu651Ala) c.*2808A>C (n.*2808A>C) n.4194A>C c.2003A>C (p.Glu668Ala) c.4124A>C (p.Glu1375Ala) c.3395A>C (p.Glu1132Ala) c.2555A>C (p.Glu852Ala) | |
| 16 | g.1510964C>A | CA394222212 | IFT140 | c.4369G>T (p.Glu1457Ter) c.1951G>T (p.Glu651Ter) c.*2807G>T (n.*2807G>T) n.4193G>T c.2002G>T (p.Glu668Ter) c.4123G>T (p.Glu1375Ter) c.3394G>T (p.Glu1132Ter) c.2554G>T (p.Glu852Ter) | |
| 16 | g.1510964C>G | CA394222213 | IFT140 | c.4369G>C (p.Glu1457Gln) c.1951G>C (p.Glu651Gln) c.*2807G>C (n.*2807G>C) n.4193G>C c.2002G>C (p.Glu668Gln) c.4123G>C (p.Glu1375Gln) c.3394G>C (p.Glu1132Gln) c.2554G>C (p.Glu852Gln) | gnomAD v4 |