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 |
|---|---|---|---|---|---|
| 1 | g.7663346_7663348delinsTCC | CA1152023538 | CAMTA1 | c.806-7_806-5delinsTCC (n.806-7_806-5delinsTCC) c.*657-7_*657-5delinsTCC (n.*657-7_*657-5delinsTCC) c.716-7_716-5delinsTCC (n.716-7_716-5delinsTCC) c.734-7_734-5delinsTCC (n.734-7_734-5delinsTCC) c.*575-7_*575-5delinsTCC (n.*575-7_*575-5delinsTCC) c.794-7_794-5delinsTCC (n.794-7_794-5delinsTCC) | |
| 1 | g.7663347_7663348del | CA1152023542 | CAMTA1 | c.806-6_806-5del (n.806-6_806-5del) c.*657-6_*657-5del (n.*657-6_*657-5del) c.716-6_716-5del (n.716-6_716-5del) c.734-6_734-5del (n.734-6_734-5del) c.*575-6_*575-5del (n.*575-6_*575-5del) c.794-6_794-5del (n.794-6_794-5del) | dbSNP |
| 1 | g.7663347_7663348delinsCC | CA1143408997 | CAMTA1 | c.806-6_806-5delinsCC (n.806-6_806-5delinsCC) c.*657-6_*657-5delinsCC (n.*657-6_*657-5delinsCC) c.716-6_716-5delinsCC (n.716-6_716-5delinsCC) c.734-6_734-5delinsCC (n.734-6_734-5delinsCC) c.*575-6_*575-5delinsCC (n.*575-6_*575-5delinsCC) c.794-6_794-5delinsCC (n.794-6_794-5delinsCC) | |
| 1 | g.7663348del | CA566300 | CAMTA1 | c.806-5del (n.806-5del) c.*657-5del (n.*657-5del) c.716-5del (n.716-5del) c.734-5del (n.734-5del) c.*575-5del (n.*575-5del) c.794-5del (n.794-5del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663348C= | CA1141844572 | CAMTA1 | c.806-5C= (n.806-5C=) c.*657-5C= (n.*657-5C=) c.716-5C= (n.716-5C=) c.734-5C= (n.734-5C=) c.*575-5C= (n.*575-5C=) c.794-5C= (n.794-5C=) | |
| 1 | g.7663348C>T | CA566301 | CAMTA1 | c.806-5C>T (n.806-5C>T) c.*657-5C>T (n.*657-5C>T) c.716-5C>T (n.716-5C>T) c.734-5C>T (n.734-5C>T) c.*575-5C>T (n.*575-5C>T) c.794-5C>T (n.794-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663349G>A | CA566302 | CAMTA1 | c.806-4G>A (n.806-4G>A) c.*657-4G>A (n.*657-4G>A) c.716-4G>A (n.716-4G>A) c.734-4G>A (n.734-4G>A) c.*575-4G>A (n.*575-4G>A) c.794-4G>A (n.794-4G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663349G= | CA1152023546 | CAMTA1 | c.806-4G= (n.806-4G=) c.*657-4G= (n.*657-4G=) c.716-4G= (n.716-4G=) c.734-4G= (n.734-4G=) c.*575-4G= (n.*575-4G=) c.794-4G= (n.794-4G=) | |
| 1 | g.7663349G>T | CA2643031701 | CAMTA1 | c.806-4G>T (n.806-4G>T) c.*657-4G>T (n.*657-4G>T) c.716-4G>T (n.716-4G>T) c.734-4G>T (n.734-4G>T) c.*575-4G>T (n.*575-4G>T) c.794-4G>T (n.794-4G>T) | gnomAD v4 |
| 1 | g.7663350C>A | CA2643031702 | CAMTA1 | c.806-3C>A (n.806-3C>A) c.*657-3C>A (n.*657-3C>A) c.716-3C>A (n.716-3C>A) c.734-3C>A (n.734-3C>A) c.*575-3C>A (n.*575-3C>A) c.794-3C>A (n.794-3C>A) | gnomAD v4 |
| 1 | g.7663350C>T | CA2574196928 | CAMTA1 | c.806-3C>T (n.806-3C>T) c.*657-3C>T (n.*657-3C>T) c.716-3C>T (n.716-3C>T) c.734-3C>T (n.734-3C>T) c.*575-3C>T (n.*575-3C>T) c.794-3C>T (n.794-3C>T) | |
| 1 | g.7663351A>C | CA338121172 | CAMTA1 | c.806-2A>C (n.806-2A>C) c.*657-2A>C (n.*657-2A>C) c.716-2A>C (n.716-2A>C) c.734-2A>C (n.734-2A>C) c.*575-2A>C (n.*575-2A>C) c.794-2A>C (n.794-2A>C) | |
| 1 | g.7663351A>G | CA338121174 | CAMTA1 | c.806-2A>G (n.806-2A>G) c.*657-2A>G (n.*657-2A>G) c.716-2A>G (n.716-2A>G) c.734-2A>G (n.734-2A>G) c.*575-2A>G (n.*575-2A>G) c.794-2A>G (n.794-2A>G) | |
| 1 | g.7663351A>T | CA338121177 | CAMTA1 | c.806-2A>T (n.806-2A>T) c.*657-2A>T (n.*657-2A>T) c.716-2A>T (n.716-2A>T) c.734-2A>T (n.734-2A>T) c.*575-2A>T (n.*575-2A>T) c.794-2A>T (n.794-2A>T) | |
| 1 | g.7663352G>A | CA338121188 | CAMTA1 | c.806-1G>A (n.806-1G>A) c.*657-1G>A (n.*657-1G>A) c.716-1G>A (n.716-1G>A) c.734-1G>A (n.734-1G>A) c.*575-1G>A (n.*575-1G>A) c.794-1G>A (n.794-1G>A) | |
| 1 | g.7663352G>C | CA338121186 | CAMTA1 | c.806-1G>C (n.806-1G>C) c.*657-1G>C (n.*657-1G>C) c.716-1G>C (n.716-1G>C) c.734-1G>C (n.734-1G>C) c.*575-1G>C (n.*575-1G>C) c.794-1G>C (n.794-1G>C) | |
| 1 | g.7663352G>T | CA338121183 | CAMTA1 | c.806-1G>T (n.806-1G>T) c.*657-1G>T (n.*657-1G>T) c.716-1G>T (n.716-1G>T) c.734-1G>T (n.734-1G>T) c.*575-1G>T (n.*575-1G>T) c.794-1G>T (n.794-1G>T) | COSMIC |
| 1 | g.7663353G>A | CA338121193 | CAMTA1 | c.806G>A (p.Gly269Glu) c.*657G>A (n.*657G>A) c.716G>A (p.Gly239Glu) c.734G>A (p.Gly245Glu) c.*575G>A (n.*575G>A) c.794G>A (p.Gly265Glu) | dbSNP gnomAD v4 |
| 1 | g.7663353G>C | CA338121196 | CAMTA1 | c.806G>C (p.Gly269Ala) c.*657G>C (n.*657G>C) c.716G>C (p.Gly239Ala) c.734G>C (p.Gly245Ala) c.*575G>C (n.*575G>C) c.794G>C (p.Gly265Ala) | |
| 1 | g.7663353G= | CA1152023549 | CAMTA1 | c.806G= (p.Gly269=) c.*657G= (n.*657G=) c.716G= (p.Gly239=) c.734G= (p.Gly245=) c.*575G= (n.*575G=) c.794G= (p.Gly265=) | |
| 1 | g.7663353G>T | CA338121210 | CAMTA1 | c.806G>T (p.Gly269Val) c.*657G>T (n.*657G>T) c.716G>T (p.Gly239Val) c.734G>T (p.Gly245Val) c.*575G>T (n.*575G>T) c.794G>T (p.Gly265Val) | |
| 1 | g.7663354A>C | CA416026286 | CAMTA1 | c.807A>C (p.Gly269=) c.*658A>C (n.*658A>C) c.717A>C (p.Gly239=) c.735A>C (p.Gly245=) c.*576A>C (n.*576A>C) c.795A>C (p.Gly265=) | |
| 1 | g.7663354A>G | CA416026287 | CAMTA1 | c.807A>G (p.Gly269=) c.*658A>G (n.*658A>G) c.717A>G (p.Gly239=) c.735A>G (p.Gly245=) c.*576A>G (n.*576A>G) c.795A>G (p.Gly265=) | |
| 1 | g.7663354A>T | CA416026288 | CAMTA1 | c.807A>T (p.Gly269=) c.*658A>T (n.*658A>T) c.717A>T (p.Gly239=) c.735A>T (p.Gly245=) c.*576A>T (n.*576A>T) c.795A>T (p.Gly265=) | |
| 1 | g.7663355G>A | CA338121213 | CAMTA1 | c.808G>A (p.Ala270Thr) c.*659G>A (n.*659G>A) c.718G>A (p.Ala240Thr) c.736G>A (p.Ala246Thr) c.*577G>A (n.*577G>A) c.796G>A (p.Ala266Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.7663355G>C | CA338121216 | CAMTA1 | c.808G>C (p.Ala270Pro) c.*659G>C (n.*659G>C) c.718G>C (p.Ala240Pro) c.736G>C (p.Ala246Pro) c.*577G>C (n.*577G>C) c.796G>C (p.Ala266Pro) | |
| 1 | g.7663355G= | CA1152023551 | CAMTA1 | c.808G= (p.Ala270=) c.*659G= (n.*659G=) c.718G= (p.Ala240=) c.736G= (p.Ala246=) c.*577G= (n.*577G=) c.796G= (p.Ala266=) | |
| 1 | g.7663355G>T | CA338121218 | CAMTA1 | c.808G>T (p.Ala270Ser) c.*659G>T (n.*659G>T) c.718G>T (p.Ala240Ser) c.736G>T (p.Ala246Ser) c.*577G>T (n.*577G>T) c.796G>T (p.Ala266Ser) | |
| 1 | g.7663356C>A | CA338121222 | CAMTA1 | c.809C>A (p.Ala270Asp) c.*660C>A (n.*660C>A) c.719C>A (p.Ala240Asp) c.737C>A (p.Ala246Asp) c.*578C>A (n.*578C>A) c.797C>A (p.Ala266Asp) | gnomAD v4 |
| 1 | g.7663356C>G | CA338121221 | CAMTA1 | c.809C>G (p.Ala270Gly) c.*660C>G (n.*660C>G) c.719C>G (p.Ala240Gly) c.737C>G (p.Ala246Gly) c.*578C>G (n.*578C>G) c.797C>G (p.Ala266Gly) | |
| 1 | g.7663356C>T | CA338121220 | CAMTA1 | c.809C>T (p.Ala270Val) c.*660C>T (n.*660C>T) c.719C>T (p.Ala240Val) c.737C>T (p.Ala246Val) c.*578C>T (n.*578C>T) c.797C>T (p.Ala266Val) | ClinVar dbSNP |
| 1 | g.7663357T>A | CA416026294 | CAMTA1 | c.810T>A (p.Ala270=) c.*661T>A (n.*661T>A) c.720T>A (p.Ala240=) c.738T>A (p.Ala246=) c.*579T>A (n.*579T>A) c.798T>A (p.Ala266=) | |
| 1 | g.7663357T>C | CA416026295 | CAMTA1 | c.810T>C (p.Ala270=) c.*661T>C (n.*661T>C) c.720T>C (p.Ala240=) c.738T>C (p.Ala246=) c.*579T>C (n.*579T>C) c.798T>C (p.Ala266=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.7663357T>G | CA416026296 | CAMTA1 | c.810T>G (p.Ala270=) c.*661T>G (n.*661T>G) c.720T>G (p.Ala240=) c.738T>G (p.Ala246=) c.*579T>G (n.*579T>G) c.798T>G (p.Ala266=) | |
| 1 | g.7663357T= | CA1152023553 | CAMTA1 | c.810T= (p.Ala270=) c.*661T= (n.*661T=) c.720T= (p.Ala240=) c.738T= (p.Ala246=) c.*579T= (n.*579T=) c.798T= (p.Ala266=) | |
| 1 | g.7663358G>A | CA338121223 | CAMTA1 | c.811G>A (p.Gly271Ser) c.*662G>A (n.*662G>A) c.721G>A (p.Gly241Ser) c.739G>A (p.Gly247Ser) c.*580G>A (n.*580G>A) c.799G>A (p.Gly267Ser) | gnomAD v4 COSMIC |
| 1 | g.7663358G>C | CA338121224 | CAMTA1 | c.811G>C (p.Gly271Arg) c.*662G>C (n.*662G>C) c.721G>C (p.Gly241Arg) c.739G>C (p.Gly247Arg) c.*580G>C (n.*580G>C) c.799G>C (p.Gly267Arg) | |
| 1 | g.7663358G= | CA1152023557 | CAMTA1 | c.811G= (p.Gly271=) c.*662G= (n.*662G=) c.721G= (p.Gly241=) c.739G= (p.Gly247=) c.*580G= (n.*580G=) c.799G= (p.Gly267=) | |
| 1 | g.7663358G>T | CA338121226 | CAMTA1 | c.811G>T (p.Gly271Cys) c.*662G>T (n.*662G>T) c.721G>T (p.Gly241Cys) c.739G>T (p.Gly247Cys) c.*580G>T (n.*580G>T) c.799G>T (p.Gly267Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663359G>A | CA338121228 | CAMTA1 | c.812G>A (p.Gly271Asp) c.*663G>A (n.*663G>A) c.722G>A (p.Gly241Asp) c.740G>A (p.Gly247Asp) c.*581G>A (n.*581G>A) c.800G>A (p.Gly267Asp) | |
| 1 | g.7663359G>C | CA338121233 | CAMTA1 | c.812G>C (p.Gly271Ala) c.*663G>C (n.*663G>C) c.722G>C (p.Gly241Ala) c.740G>C (p.Gly247Ala) c.*581G>C (n.*581G>C) c.800G>C (p.Gly267Ala) | |
| 1 | g.7663359G>T | CA338121235 | CAMTA1 | c.812G>T (p.Gly271Val) c.*663G>T (n.*663G>T) c.722G>T (p.Gly241Val) c.740G>T (p.Gly247Val) c.*581G>T (n.*581G>T) c.800G>T (p.Gly267Val) | |
| 1 | g.7663360C>A | CA416026298 | CAMTA1 | c.813C>A (p.Gly271=) c.*664C>A (n.*664C>A) c.723C>A (p.Gly241=) c.741C>A (p.Gly247=) c.*582C>A (n.*582C>A) c.801C>A (p.Gly267=) | gnomAD v4 |
| 1 | g.7663360C= | CA1152023558 | CAMTA1 | c.813C= (p.Gly271=) c.*664C= (n.*664C=) c.723C= (p.Gly241=) c.741C= (p.Gly247=) c.*582C= (n.*582C=) c.801C= (p.Gly267=) | |
| 1 | g.7663360C>G | CA416026300 | CAMTA1 | c.813C>G (p.Gly271=) c.*664C>G (n.*664C>G) c.723C>G (p.Gly241=) c.741C>G (p.Gly247=) c.*582C>G (n.*582C>G) c.801C>G (p.Gly267=) | |
| 1 | g.7663360C>T | CA416026301 | CAMTA1 | c.813C>T (p.Gly271=) c.*664C>T (n.*664C>T) c.723C>T (p.Gly241=) c.741C>T (p.Gly247=) c.*582C>T (n.*582C>T) c.801C>T (p.Gly267=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.7663361G>A | CA566303 | CAMTA1 | c.814G>A (p.Gly272Ser) c.*665G>A (n.*665G>A) c.724G>A (p.Gly242Ser) c.742G>A (p.Gly248Ser) c.*583G>A (n.*583G>A) c.802G>A (p.Gly268Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663361G>C | CA338121240 | CAMTA1 | c.814G>C (p.Gly272Arg) c.*665G>C (n.*665G>C) c.724G>C (p.Gly242Arg) c.742G>C (p.Gly248Arg) c.*583G>C (n.*583G>C) c.802G>C (p.Gly268Arg) | |
| 1 | g.7663361G= | CA1143507317 | CAMTA1 | c.814G= (p.Gly272=) c.*665G= (n.*665G=) c.724G= (p.Gly242=) c.742G= (p.Gly248=) c.*583G= (n.*583G=) c.802G= (p.Gly268=) | |
| 1 | g.7663361G>T | CA338121239 | CAMTA1 | c.814G>T (p.Gly272Cys) c.*665G>T (n.*665G>T) c.724G>T (p.Gly242Cys) c.742G>T (p.Gly248Cys) c.*583G>T (n.*583G>T) c.802G>T (p.Gly268Cys) |