| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50624628G>C | CA325531009 | ARSA | c.*517C>G (n.*517C>G) c.181-733C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624628G= | CA2410958071 | ARSA | c.*517C= (n.*517C=) c.181-733C= | |
| 22 | g.50624629G>A | CA2410958073 | ARSA | c.*516C>T (n.*516C>T) c.181-734C>T | dbSNP |
| 22 | g.50624629G= | CA2410958072 | ARSA | c.*516C= (n.*516C=) c.181-734C= | |
| 22 | g.50624630A= | CA2410958074 | ARSA | c.*515T= (n.*515T=) c.180+733T= | |
| 22 | g.50624630A>T | CA2410958075 | ARSA | c.*515T>A (n.*515T>A) c.180+733T>A | dbSNP |
| 22 | g.50624631G>A | CA1026679328 | ARSA | c.*514C>T (n.*514C>T) c.180+732C>T | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624631G= | CA2410958076 | ARSA | c.*514C= (n.*514C=) c.180+732C= | |
| 22 | g.50624637G>C | CA2410958078 | ARSA | c.*508C>G (n.*508C>G) c.180+726C>G | dbSNP |
| 22 | g.50624637G= | CA2410958077 | ARSA | c.*508C= (n.*508C=) c.180+726C= | |
| 22 | g.50624640C>T | CA2819315727 | ARSA | c.*505G>A (n.*505G>A) c.180+723G>A | |
| 22 | g.50624642T>C | CA10651565 | ARSA | c.*503A>G (n.*503A>G) c.180+721A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624642T= | CA2410958079 | ARSA | c.*503A= (n.*503A=) c.180+721A= | |
| 22 | g.50624644T>A | CA2738227675 | ARSA | c.*501A>T (n.*501A>T) c.180+719A>T | dbSNP |
| 22 | g.50624644T= | CA2410958080 | ARSA | c.*501A= (n.*501A=) c.180+719A= | |
| 22 | g.50624645dup | CA754066853 | ARSA | c.*500dup (n.*500dup) c.180+718dup | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624649C>A | CA2819315733 | ARSA | c.*496G>T (n.*496G>T) c.180+714G>T | |
| 22 | g.50624657G>A | CA754066854 | ARSA | c.*488C>T (n.*488C>T) c.180+706C>T | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624657G= | CA2410958081 | ARSA | c.*488C= (n.*488C=) c.180+706C= | |
| 22 | g.50624660T>C | CA2410958083 | ARSA | c.*485A>G (n.*485A>G) c.180+703A>G | dbSNP |
| 22 | g.50624660T= | CA2410958082 | ARSA | c.*485A= (n.*485A=) c.180+703A= | |
| 22 | g.50624665_50624666delinsTG | CA2410958084 | ARSA | c.*479_*480delinsCA (n.*479_*480delinsCA) c.180+697_180+698delinsCA | |
| 22 | g.50624666G>C | CA325531013 | ARSA | c.*479C>G (n.*479C>G) c.180+697C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624666G= | CA2410958085 | ARSA | c.*479C= (n.*479C=) c.180+697C= | |
| 22 | g.50624670del | CA920392308 | ARSA | c.*479del (n.*479del) c.180+697del | dbSNP |
| 22 | g.50624667G>C | CA1026679336 | ARSA | c.*478C>G (n.*478C>G) c.180+696C>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624667G= | CA2410958086 | ARSA | c.*478C= (n.*478C=) c.180+696C= | |
| 22 | g.50624668G>A | CA325531017 | ARSA | c.*477C>T (n.*477C>T) c.180+695C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624668G= | CA2410958087 | ARSA | c.*477C= (n.*477C=) c.180+695C= | |
| 22 | g.50624668G>T | CA2410958088 | ARSA | c.*477C>A (n.*477C>A) c.180+695C>A | dbSNP |
| 22 | g.50624672A= | CA2410958089 | ARSA | c.*473T= (n.*473T=) c.180+691T= | |
| 22 | g.50624672A>G | CA754066856 | ARSA | c.*473T>C (n.*473T>C) c.180+691T>C | dbSNP |
| 22 | g.50624673T>A | CA2738181085 | ARSA | c.*472A>T (n.*472A>T) c.180+690A>T | dbSNP |
| 22 | g.50624673T>C | CA1026679339 | ARSA | c.*472A>G (n.*472A>G) c.180+690A>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624673T= | CA2410958090 | ARSA | c.*472A= (n.*472A=) c.180+690A= | |
| 22 | g.50624678C>A | CA2592021852 | ARSA | c.*467G>T (n.*467G>T) c.180+685G>T | gnomAD v3 gnomAD v4 |
| 22 | g.50624678C= | CA2410958091 | ARSA | c.*467G= (n.*467G=) c.180+685G= | |
| 22 | g.50624678C>T | CA325531019 | ARSA | c.*467G>A (n.*467G>A) c.180+685G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624679G>A | CA754066859 | ARSA | c.*466C>T (n.*466C>T) c.180+684C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624679G= | CA2410958093 | ARSA | c.*466C= (n.*466C=) c.180+684C= | |
| 22 | g.50624679_50624681delinsGTC | CA2410958092 | ARSA | c.*464_*466delinsGAC (n.*464_*466delinsGAC) c.180+682_180+684delinsGAC | |
| 22 | g.50624686_50624687del | CA325531020 | ARSA | c.*464_*465del (n.*464_*465del) c.180+682_180+683del | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624682T>A | CA2819315747 | ARSA | c.*463A>T (n.*463A>T) c.180+681A>T | |
| 22 | g.50624683C= | CA2410958094 | ARSA | c.*462G= (n.*462G=) c.180+680G= | |
| 22 | g.50624683C>G | CA1026679344 | ARSA | c.*462G>C (n.*462G>C) c.180+680G>C | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624689G>A | CA2410958096 | ARSA | c.*456C>T (n.*456C>T) c.180+674C>T | dbSNP |
| 22 | g.50624689G= | CA2410958095 | ARSA | c.*456C= (n.*456C=) c.180+674C= | |
| 22 | g.50624692A= | CA2410958097 | ARSA | c.*453T= (n.*453T=) c.180+671T= | |
| 22 | g.50624692A>G | CA325531023 | ARSA | c.*453T>C (n.*453T>C) c.180+671T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624693C= | CA2410958098 | ARSA | c.*452G= (n.*452G=) c.180+670G= | |
| 22 | g.50624693C>T | CA1026679354 | ARSA | c.*452G>A (n.*452G>A) c.180+670G>A | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624697G>A | CA2410958099 | ARSA | c.*448C>T (n.*448C>T) c.180+666C>T | dbSNP |
| 22 | g.50624697G= | CA2410958100 | ARSA | c.*448C= (n.*448C=) c.180+666C= | |
| 22 | g.50624701C= | CA2410958101 | ARSA | c.*444G= (n.*444G=) c.180+662G= | |
| 22 | g.50624701C>T | CA754066865 | ARSA | c.*444G>A (n.*444G>A) c.180+662G>A | dbSNP |
| 22 | g.50624704_50624705del | CA2592021856 | ARSA | c.*441_*442del (n.*441_*442del) c.180+659_180+660del | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624705T>C | CA2410958103 | ARSA | c.*440A>G (n.*440A>G) c.180+658A>G | dbSNP |
| 22 | g.50624705T= | CA2410958102 | ARSA | c.*440A= (n.*440A=) c.180+658A= | |
| 22 | g.50624708G>A | CA754066870 | ARSA | c.*437C>T (n.*437C>T) c.180+655C>T | dbSNP |
| 22 | g.50624708G= | CA2410958104 | ARSA | c.*437C= (n.*437C=) c.180+655C= | |
| 22 | g.50624714T>C | CA640051345 | ARSA | c.*431A>G (n.*431A>G) c.180+649A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624714T= | CA2410958105 | ARSA | c.*431A= (n.*431A=) c.180+649A= | |
| 22 | g.50624715G>A | CA2410958108 | ARSA | c.*430C>T (n.*430C>T) c.180+648C>T | dbSNP |
| 22 | g.50624715G>C | CA2410958107 | ARSA | c.*430C>G (n.*430C>G) c.180+648C>G | dbSNP |
| 22 | g.50624715G= | CA2410958106 | ARSA | c.*430C= (n.*430C=) c.180+648C= | |
| 22 | g.50624715G>T | CA325531025 | ARSA | c.*430C>A (n.*430C>A) c.180+648C>A | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624716G>A | CA640051346 | ARSA | c.*429C>T (n.*429C>T) c.180+647C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624716G= | CA2410958109 | ARSA | c.*429C= (n.*429C=) c.180+647C= | |
| 22 | g.50624716G>T | CA1026679360 | ARSA | c.*429C>A (n.*429C>A) c.180+647C>A | gnomAD v3 gnomAD v4 |
| 22 | g.50624717C= | CA2410958110 | ARSA | c.*428G= (n.*428G=) c.180+646G= | |
| 22 | g.50624717C>T | CA325531026 | ARSA | c.*428G>A (n.*428G>A) c.180+646G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624718C>A | CA754066876 | ARSA | c.*427G>T (n.*427G>T) c.180+645G>T | dbSNP |
| 22 | g.50624718C= | CA2410958112 | ARSA | c.*427G= (n.*427G=) c.180+645G= | |
| 22 | g.50624718C>G | CA2410958111 | ARSA | c.*427G>C (n.*427G>C) c.180+645G>C | dbSNP |
| 22 | g.50624718C>T | CA1026679368 | ARSA | c.*427G>A (n.*427G>A) c.180+645G>A | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624721C= | CA2410958113 | ARSA | c.*424G= (n.*424G=) c.180+642G= | |
| 22 | g.50624721C>G | CA754066879 | ARSA | c.*424G>C (n.*424G>C) c.180+642G>C | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624721C>T | CA754066880 | ARSA | c.*424G>A (n.*424G>A) c.180+642G>A | dbSNP |
| 22 | g.50624722A>C | CA1026679387 | ARSA | c.*423T>G (n.*423T>G) c.180+641T>G | gnomAD v3 gnomAD v4 |
| 22 | g.50624722_50624730delinsACACCCTCC | CA2410958114 | ARSA | c.*415_*423delinsGGAGGGTGT (n.*415_*423delinsGGAGGGTGT) c.180+633_180+641delinsGGAGGGTGT | |
| 22 | g.50624736_50624743dup | CA2819315750 | ARSA | c.*415_*422dup (n.*415_*422dup) c.180+633_180+640dup | |
| 22 | g.50624736_50624743del | CA325531027 | ARSA | c.*415_*422del (n.*415_*422del) c.180+633_180+640del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624724A= | CA2410958115 | ARSA | c.*421T= (n.*421T=) c.180+639T= | |
| 22 | g.50624724A>C | CA1026679398 | ARSA | c.*421T>G (n.*421T>G) c.180+639T>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624724A>G | CA1026679394 | ARSA | c.*421T>C (n.*421T>C) c.180+639T>C | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624724A>T | CA1026679390 | ARSA | c.*421T>A (n.*421T>A) c.180+639T>A | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insCCCCCC | CA640051348 | ARSA | c.*420_*421insGGGGGG (n.*420_*421insGGGGGG) c.180+638_180+639insGGGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insCCCCCCC | CA914705017 | ARSA | c.*420_*421insGGGGGGG (n.*420_*421insGGGGGGG) c.180+638_180+639insGGGGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insCCCCCCCC | CA1026679440 | ARSA | c.*420_*421insGGGGGGGG (n.*420_*421insGGGGGGGG) c.180+638_180+639insGGGGGGGG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insGGGGGCCC | CA2592021866 | ARSA | c.*420_*421insCCCCCGGG (n.*420_*421insCCCCCGGG) c.180+638_180+639insCCCCCGGG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insAGGGGCCCC | CA2738150462 | ARSA | c.*420_*421insGCCCCTGGG (n.*420_*421insGCCCCTGGG) c.180+638_180+639insGCCCCTGGG | dbSNP |
| 22 | g.50624727_50624728insCCCCCCCCC | CA1026679439 | ARSA | c.*420_*421insGGGGGGGGG (n.*420_*421insGGGGGGGGG) c.180+638_180+639insGGGGGGGGG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insCGGGGGCCC | CA1026679449 | ARSA | c.*420_*421insCCCCCGGGG (n.*420_*421insCCCCCGGGG) c.180+638_180+639insCCCCCGGGG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insGGGGGGCCC | CA1026679409 | ARSA | c.*420_*421insCCCCCCGGG (n.*420_*421insCCCCCCGGG) c.180+638_180+639insCCCCCCGGG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insCCCCCCCCCC | CA2819315786 | ARSA | c.*420_*421insGGGGGGGGGG (n.*420_*421insGGGGGGGGGG) c.180+638_180+639insGGGGGGGGGG | |
| 22 | g.50624727_50624728insCGGGGGGCCC | CA2819315796 | ARSA | c.*420_*421insCCCCCCGGGG (n.*420_*421insCCCCCCGGGG) c.180+638_180+639insCCCCCCGGGG | |
| 22 | g.50624727_50624728insGGGGGCCCCC | CA1026679420 | ARSA | c.*420_*421insGGCCCCCGGG (n.*420_*421insGGCCCCCGGG) c.180+638_180+639insGGCCCCCGGG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insGGGGGGCCCC | CA1026679408 | ARSA | c.*420_*421insGCCCCCCGGG (n.*420_*421insGCCCCCCGGG) c.180+638_180+639insGCCCCCCGGG | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insGGGGGGGCCC | CA2592021862 | ARSA | c.*420_*421insCCCCCCCGGG (n.*420_*421insCCCCCCCGGG) c.180+638_180+639insCCCCCCCGGG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insCGGGGGCCCCC | CA1026679422 | ARSA | c.*420_*421insGGCCCCCGGGG (n.*420_*421insGGCCCCCGGGG) c.180+638_180+639insGGCCCCCGGGG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insCGGGGGGGCCC | CA2819315787 | ARSA | c.*420_*421insCCCCCCCGGGG (n.*420_*421insCCCCCCCGGGG) c.180+638_180+639insCCCCCCCGGGG | |
| 22 | g.50624727_50624728insGGGGGGCCCCC | CA2592021864 | ARSA | c.*420_*421insGGCCCCCCGGG (n.*420_*421insGGCCCCCCGGG) c.180+638_180+639insGGCCCCCCGGG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insCGGGGGGCCCCC | CA2819315795 | ARSA | c.*420_*421insGGCCCCCCGGGG (n.*420_*421insGGCCCCCCGGGG) c.180+638_180+639insGGCCCCCCGGGG | |
| 22 | g.50624727_50624728insCGGGGGGGCCCC | CA2738150461 | ARSA | c.*420_*421insGCCCCCCCGGGG (n.*420_*421insGCCCCCCCGGGG) c.180+638_180+639insGCCCCCCCGGGG | dbSNP |
| 22 | g.50624727_50624728insGGGGGCCCCCCC | CA2524274123 | ARSA | c.*420_*421insGGGGCCCCCGGG (n.*420_*421insGGGGCCCCCGGG) c.180+638_180+639insGGGGCCCCCGGG | |
| 22 | g.50624727_50624728insGGGGGGCCCCCC | CA1026679406 | ARSA | c.*420_*421insGGGCCCCCCGGG (n.*420_*421insGGGCCCCCCGGG) c.180+638_180+639insGGGCCCCCCGGG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insGGGGGGGCCCCC | CA2819315779 | ARSA | c.*420_*421insGGCCCCCCCGGG (n.*420_*421insGGCCCCCCCGGG) c.180+638_180+639insGGCCCCCCCGGG | |
| 22 | g.50624727_50624728insGGGGGGGGCCCC | CA2819315785 | ARSA | c.*420_*421insGCCCCCCCCGGG (n.*420_*421insGCCCCCCCCGGG) c.180+638_180+639insGCCCCCCCCGGG | |
| 22 | g.50624727_50624728insGGGGGCCCCCCCC | CA2592021865 | ARSA | c.*420_*421insGGGGGCCCCCGGG (n.*420_*421insGGGGGCCCCCGGG) c.180+638_180+639insGGGGGCCCCCGGG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insCCCCCCCCCCCCCC | CA1026679414 | ARSA | c.*420_*421insGGGGGGGGGGGGGG (n.*420_*421insGGGGGGGGGGGGGG) c.180+638_180+639insGGGGGGGGGGGGGG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insCGGGGGGCCCCCCC | CA2819315791 | ARSA | c.*420_*421insGGGGCCCCCCGGGG (n.*420_*421insGGGGCCCCCCGGGG) c.180+638_180+639insGGGGCCCCCCGGGG | |
| 22 | g.50624727_50624728insCGGGGGGGCCCCCC | CA2592021860 | ARSA | c.*420_*421insGGGCCCCCCCGGGG (n.*420_*421insGGGCCCCCCCGGGG) c.180+638_180+639insGGGCCCCCCCGGGG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insGGGGGGCCCCCCCC | CA2819315773 | ARSA | c.*420_*421insGGGGGCCCCCCGGG (n.*420_*421insGGGGGCCCCCCGGG) c.180+638_180+639insGGGGGCCCCCCGGG | |
| 22 | g.50624727_50624728insGGGGGGGCCCCCCC | CA2592021861 | ARSA | c.*420_*421insGGGGCCCCCCCGGG (n.*420_*421insGGGGCCCCCCCGGG) c.180+638_180+639insGGGGCCCCCCCGGG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insCCCCCCCCCCCCCCC | CA1026679437 | ARSA | c.*420_*421insGGGGGGGGGGGGGGG (n.*420_*421insGGGGGGGGGGGGGGG) c.180+638_180+639insGGGGGGGGGGGGGGG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insCGGGGGCCCCCCCCC | CA2592021869 | ARSA | c.*420_*421insGGGGGGCCCCCGGGG (n.*420_*421insGGGGGGCCCCCGGGG) c.180+638_180+639insGGGGGGCCCCCGGGG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insCGGGGGGCCCCCCCC | CA2562056059 | ARSA | c.*420_*421insGGGGGCCCCCCGGGG (n.*420_*421insGGGGGCCCCCCGGGG) c.180+638_180+639insGGGGGCCCCCCGGGG | |
| 22 | g.50624727_50624728insGGGGGCCCCCCCCCC | CA2819315769 | ARSA | c.*420_*421insGGGGGGGCCCCCGGG (n.*420_*421insGGGGGGGCCCCCGGG) c.180+638_180+639insGGGGGGGCCCCCGGG | |
| 22 | g.50624727_50624728insCCCCCCCCCCCCCCCC | CA1026679435 | ARSA | c.*420_*421insGGGGGGGGGGGGGGGG (n.*420_*421insGGGGGGGGGGGGGGGG) c.180+638_180+639insGGGGGGGGGGGGGGGG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insGGGGGGCCCCCCCCCC | CA2819315776 | ARSA | c.*420_*421insGGGGGGGCCCCCCGGG (n.*420_*421insGGGGGGGCCCCCCGGG) c.180+638_180+639insGGGGGGGCCCCCCGGG | |
| 22 | g.50624727_50624728insGGGGGGGCCCCCCCCC | CA2819315783 | ARSA | c.*420_*421insGGGGGGCCCCCCCGGG (n.*420_*421insGGGGGGCCCCCCCGGG) c.180+638_180+639insGGGGGGCCCCCCCGGG | |
| 22 | g.50624727_50624728insCGGGGGGCCCCCCCCCC | CA2592021867 | ARSA | c.*420_*421insGGGGGGGCCCCCCGGGG (n.*420_*421insGGGGGGGCCCCCCGGGG) c.180+638_180+639insGGGGGGGCCCCCCGGGG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insAGGGGCCCCCCCCCCCCCC | CA2592021870 | ARSA | c.*420_*421insGGGGGGGGGGGCCCCTGGG (n.*420_*421insGGGGGGGGGGGCCCCTGGG) c.180+638_180+639insGGGGGGGGGGGCCCCTGGG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insCGGGGGCCCCCCCCCCCCCC | CA2592021868 | ARSA | c.*420_*421insGGGGGGGGGGGCCCCCGGGG (n.*420_*421insGGGGGGGGGGGCCCCCGGGG) c.180+638_180+639insGGGGGGGGGGGCCCCCGGGG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727dup | CA640051347 | ARSA | c.*420dup (n.*420dup) c.180+638dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624726_50624727dup | CA1026679442 | ARSA | c.*419_*420dup (n.*419_*420dup) c.180+637_180+638dup | gnomAD v3 gnomAD v4 |
| 22 | g.50624725_50624727dup | CA2561823092 | ARSA | c.*418_*420dup (n.*418_*420dup) c.180+636_180+638dup | |
| 22 | g.50624727_50624728insCGGCC | CA2819315806 | ARSA | c.*419_*420insCCGGG (n.*419_*420insCCGGG) c.180+637_180+638insCCGGG | |
| 22 | g.50624727_50624728insGGGGCC | CA2819315812 | ARSA | c.*419_*420insCCCCGG (n.*419_*420insCCCCGG) c.180+637_180+638insCCCCGG | |
| 22 | g.50624727_50624728insGGGGGCC | CA2592021871 | ARSA | c.*419_*420insCCCCCGG (n.*419_*420insCCCCCGG) c.180+637_180+638insCCCCCGG | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insCGGGGGCC | CA2819315816 | ARSA | c.*419_*420insCCCCCGGG (n.*419_*420insCCCCCGGG) c.180+637_180+638insCCCCCGGG | |
| 22 | g.50624727_50624728insGGGGGGCC | CA1026679455 | ARSA | c.*419_*420insCCCCCCGG (n.*419_*420insCCCCCCGG) c.180+637_180+638insCCCCCCGG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insCGGGGGGCC | CA2819315815 | ARSA | c.*419_*420insCCCCCCGGG (n.*419_*420insCCCCCCGGG) c.180+637_180+638insCCCCCCGGG | |
| 22 | g.50624727_50624728insGGGGGGGCC | CA2819315809 | ARSA | c.*419_*420insCCCCCCCGG (n.*419_*420insCCCCCCCGG) c.180+637_180+638insCCCCCCCGG | |
| 22 | g.50624727_50624728insCGGGGGGGCC | CA2819315813 | ARSA | c.*419_*420insCCCCCCCGGG (n.*419_*420insCCCCCCCGGG) c.180+637_180+638insCCCCCCCGGG | |
| 22 | g.50624728_50624734del | CA1026679453 | ARSA | c.*413_*419del (n.*413_*419del) c.180+631_180+637del | gnomAD v3 gnomAD v4 |
| 22 | g.50624727C= | CA2410958116 | ARSA | c.*418G= (n.*418G=) c.180+636G= | |
| 22 | g.50624727C>T | CA754066891 | ARSA | c.*418G>A (n.*418G>A) c.180+636G>A | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insGGGGC | CA2738228263 | ARSA | c.*418_*419insCCCCG (n.*418_*419insCCCCG) c.180+636_180+637insCCCCG | dbSNP |
| 22 | g.50624727_50624728insAGGGGC | CA2592021872 | ARSA | c.*418_*419insCCCCTG (n.*418_*419insCCCCTG) c.180+636_180+637insCCCCTG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insCGGGGC | CA2592021873 | ARSA | c.*418_*419insCCCCGG (n.*418_*419insCCCCGG) c.180+636_180+637insCCCCGG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insGGGGGC | CA1026679470 | ARSA | c.*418_*419insCCCCCG (n.*418_*419insCCCCCG) c.180+636_180+637insCCCCCG | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insCGGGGGC | CA2592021874 | ARSA | c.*418_*419insCCCCCGG (n.*418_*419insCCCCCGG) c.180+636_180+637insCCCCCGG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insGGGGGGC | CA2547158093 | ARSA | c.*418_*419insCCCCCCG (n.*418_*419insCCCCCCG) c.180+636_180+637insCCCCCCG | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insCGGGGGGC | CA2592021875 | ARSA | c.*418_*419insCCCCCCGG (n.*418_*419insCCCCCCGG) c.180+636_180+637insCCCCCCGG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insGGGGGGGC | CA2592021877 | ARSA | c.*418_*419insCCCCCCCG (n.*418_*419insCCCCCCCG) c.180+636_180+637insCCCCCCCG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insGGGGGGGGC | CA2499936140 | ARSA | c.*418_*419insCCCCCCCCG (n.*418_*419insCCCCCCCCG) c.180+636_180+637insCCCCCCCCG | |
| 22 | g.50624727_50624728insCGGGGGGCGC | CA2819315831 | ARSA | c.*418_*419insCGCCCCCCGG (n.*418_*419insCGCCCCCCGG) c.180+636_180+637insCGCCCCCCGG | |
| 22 | g.50624727_50624728insGGGGGGGGGC | CA2819315823 | ARSA | c.*418_*419insCCCCCCCCCG (n.*418_*419insCCCCCCCCCG) c.180+636_180+637insCCCCCCCCCG | |
| 22 | g.50624728_50624729dup | CA640051349 | ARSA | c.*417_*418dup (n.*417_*418dup) c.180+635_180+636dup | gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insG | CA1026679561 | ARSA | c.*417_*418insC (n.*417_*418insC) c.180+635_180+636insC | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insAG | CA2819315868 | ARSA | c.*417_*418insCT (n.*417_*418insCT) c.180+635_180+636insCT | |
| 22 | g.50624727_50624728insCT | CA1026679556 | ARSA | c.*417_*418insAG (n.*417_*418insAG) c.180+635_180+636insAG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insGG | CA2819315864 | ARSA | c.*417_*418insCC (n.*417_*418insCC) c.180+635_180+636insCC | |
| 22 | g.50624727_50624728insAGG | CA2592021882 | ARSA | c.*417_*418insCCT (n.*417_*418insCCT) c.180+635_180+636insCCT | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insCGG | CA2819315872 | ARSA | c.*417_*418insCCG (n.*417_*418insCCG) c.180+635_180+636insCCG | |
| 22 | g.50624727_50624728insGGG | CA1026679560 | ARSA | c.*417_*418insCCC (n.*417_*418insCCC) c.180+635_180+636insCCC | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insAGGG | CA2592021883 | ARSA | c.*417_*418insCCCT (n.*417_*418insCCCT) c.180+635_180+636insCCCT | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insCGGG | CA1026679553 | ARSA | c.*417_*418insCCCG (n.*417_*418insCCCG) c.180+635_180+636insCCCG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insGGGG | CA1026679563 | ARSA | c.*417_*418insCCCC (n.*417_*418insCCCC) c.180+635_180+636insCCCC | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insAGGGG | CA1026679487 | ARSA | c.*417_*418insCCCCT (n.*417_*418insCCCCT) c.180+635_180+636insCCCCT | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insCGGGG | CA1026679555 | ARSA | c.*417_*418insCCCCG (n.*417_*418insCCCCG) c.180+635_180+636insCCCCG | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insGGGGG | CA1026679538 | ARSA | c.*417_*418insCCCCC (n.*417_*418insCCCCC) c.180+635_180+636insCCCCC | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insCGGGGG | CA2592021884 | ARSA | c.*417_*418insCCCCCG (n.*417_*418insCCCCCG) c.180+635_180+636insCCCCCG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insGGGGGG | CA1026679551 | ARSA | c.*417_*418insCCCCCC (n.*417_*418insCCCCCC) c.180+635_180+636insCCCCCC | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insCGGGGGG | CA2592021881 | ARSA | c.*417_*418insCCCCCCG (n.*417_*418insCCCCCCG) c.180+635_180+636insCCCCCCG | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insGGGGGGG | CA1026679533 | ARSA | c.*417_*418insCCCCCCC (n.*417_*418insCCCCCCC) c.180+635_180+636insCCCCCCC | gnomAD v3 gnomAD v4 |
| 22 | g.50624727_50624728insCGGGGGGG | CA2819315866 | ARSA | c.*417_*418insCCCCCCCG (n.*417_*418insCCCCCCCG) c.180+635_180+636insCCCCCCCG | |
| 22 | g.50624727_50624728insGGGGGGGG | CA2819315852 | ARSA | c.*417_*418insCCCCCCCC (n.*417_*418insCCCCCCCC) c.180+635_180+636insCCCCCCCC | |
| 22 | g.50624727_50624728insGGGGGGGGG | CA2819315857 | ARSA | c.*417_*418insCCCCCCCCC (n.*417_*418insCCCCCCCCC) c.180+635_180+636insCCCCCCCCC | |
| 22 | g.50624728T>A | CA1026679500 | ARSA | c.*417A>T (n.*417A>T) c.180+635A>T | gnomAD v3 gnomAD v4 |
| 22 | g.50624728T>C | CA640051351 | ARSA | c.*417A>G (n.*417A>G) c.180+635A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50624728T>G | CA1026679494 | ARSA | c.*417A>C (n.*417A>C) c.180+635A>C | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50624728T= | CA2410958117 | ARSA | c.*417A= (n.*417A=) c.180+635A= | |
| 22 | g.50624728_50624729insTT | CA1026679507 | ARSA | c.*417_*418insAA (n.*417_*418insAA) c.180+635_180+636insAA | gnomAD v3 gnomAD v4 |
| 22 | g.50624728dup | CA640051350 | ARSA | c.*417dup (n.*417dup) c.180+635dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |