Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
22 | g.50624728_50624729insG | CA1026679692 | ARSA | c.*416_*417insC (n.*416_*417insC) c.180+634_180+635insC | gnomAD v3 gnomAD v4 |
22 | g.50624728_50624729insAG | CA2819315928 | ARSA | c.*416_*417insCT (n.*416_*417insCT) c.180+634_180+635insCT | |
22 | g.50624728_50624729insGG | CA1026679709 | ARSA | c.*416_*417insCC (n.*416_*417insCC) c.180+634_180+635insCC | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624728_50624729insTC | CA640051354 | ARSA | c.*416_*417insGA (n.*416_*417insGA) c.180+634_180+635insGA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624728_50624729insTG | CA1026679624 | ARSA | c.*416_*417insCA (n.*416_*417insCA) c.180+634_180+635insCA | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624728_50624729insGGC | CA1026679707 | ARSA | c.*416_*417insGCC (n.*416_*417insGCC) c.180+634_180+635insGCC | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624728_50624729insGGG | CA1026679701 | ARSA | c.*416_*417insCCC (n.*416_*417insCCC) c.180+634_180+635insCCC | gnomAD v3 gnomAD v4 |
22 | g.50624728_50624729insTCC | CA1026679593 | ARSA | c.*416_*417insGGA (n.*416_*417insGGA) c.180+634_180+635insGGA | gnomAD v3 gnomAD v4 |
22 | g.50624728_50624729insTGC | CA1026679628 | ARSA | c.*416_*417insGCA (n.*416_*417insGCA) c.180+634_180+635insGCA | gnomAD v3 gnomAD v4 |
22 | g.50624728_50624729insTGG | CA1026679630 | ARSA | c.*416_*417insCCA (n.*416_*417insCCA) c.180+634_180+635insCCA | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624728_50624729insGGCC | CA1026679706 | ARSA | c.*416_*417insGGCC (n.*416_*417insGGCC) c.180+634_180+635insGGCC | gnomAD v3 gnomAD v4 |
22 | g.50624728_50624729insGGGC | CA2515304716 | ARSA | c.*416_*417insGCCC (n.*416_*417insGCCC) c.180+634_180+635insGCCC | gnomAD v3 gnomAD v4 |
22 | g.50624728_50624729insGGGG | CA1026679693 | ARSA | c.*416_*417insCCCC (n.*416_*417insCCCC) c.180+634_180+635insCCCC | gnomAD v3 gnomAD v4 |
22 | g.50624728_50624729insGTGG | CA2819315915 | ARSA | c.*416_*417insCCAC (n.*416_*417insCCAC) c.180+634_180+635insCCAC | |
22 | g.50624728_50624729insTCCC | CA1026679602 | ARSA | c.*416_*417insGGGA (n.*416_*417insGGGA) c.180+634_180+635insGGGA | gnomAD v3 gnomAD v4 |
22 | g.50624728_50624729insTGCC | CA1026679629 | ARSA | c.*416_*417insGGCA (n.*416_*417insGGCA) c.180+634_180+635insGGCA | gnomAD v3 gnomAD v4 |
22 | g.50624728_50624729insTGGC | CA1026679637 | ARSA | c.*416_*417insGCCA (n.*416_*417insGCCA) c.180+634_180+635insGCCA | gnomAD v3 gnomAD v4 |
22 | g.50624728_50624729insTTGG | CA2819315924 | ARSA | c.*416_*417insCCAA (n.*416_*417insCCAA) c.180+634_180+635insCCAA | |
22 | g.50624728_50624729insGGCCC | CA2508798637 | ARSA | c.*416_*417insGGGCC (n.*416_*417insGGGCC) c.180+634_180+635insGGGCC | |
22 | g.50624728_50624729insGGGCC | CA2592021890 | ARSA | c.*416_*417insGGCCC (n.*416_*417insGGCCC) c.180+634_180+635insGGCCC | gnomAD v3 gnomAD v4 |
22 | g.50624728_50624729insGGGCG | CA2819315939 | ARSA | c.*416_*417insCGCCC (n.*416_*417insCGCCC) c.180+634_180+635insCGCCC | |
22 | g.50624728_50624729insTCCCC | CA2544619205 | ARSA | c.*416_*417insGGGGA (n.*416_*417insGGGGA) c.180+634_180+635insGGGGA | |
22 | g.50624728_50624729insTGCCC | CA2819315920 | ARSA | c.*416_*417insGGGCA (n.*416_*417insGGGCA) c.180+634_180+635insGGGCA | |
22 | g.50624728_50624729insTGGCC | CA1026679639 | ARSA | c.*416_*417insGGCCA (n.*416_*417insGGCCA) c.180+634_180+635insGGCCA | gnomAD v3 gnomAD v4 |
22 | g.50624728_50624729insTGGGC | CA2819315923 | ARSA | c.*416_*417insGCCCA (n.*416_*417insGCCCA) c.180+634_180+635insGCCCA | |
22 | g.50624728_50624729insGGCCCC | CA1026679705 | ARSA | c.*416_*417insGGGGCC (n.*416_*417insGGGGCC) c.180+634_180+635insGGGGCC | gnomAD v3 gnomAD v4 |
22 | g.50624728_50624729insGGGCCC | CA1026679677 | ARSA | c.*416_*417insGGGCCC (n.*416_*417insGGGCCC) c.180+634_180+635insGGGCCC | gnomAD v3 gnomAD v4 |
22 | g.50624728_50624729insGGGGCC | CA2819315941 | ARSA | c.*416_*417insGGCCCC (n.*416_*417insGGCCCC) c.180+634_180+635insGGCCCC | |
22 | g.50624728_50624729insTCCCCC | CA1026679608 | ARSA | c.*416_*417insGGGGGA (n.*416_*417insGGGGGA) c.180+634_180+635insGGGGGA | gnomAD v3 gnomAD v4 |
22 | g.50624728_50624729insGGGCCCC | CA2819315936 | ARSA | c.*416_*417insGGGGCCC (n.*416_*417insGGGGCCC) c.180+634_180+635insGGGGCCC | |
22 | g.50624728_50624729insGGGGCCC | CA1026679588 | ARSA | c.*416_*417insGGGCCCC (n.*416_*417insGGGCCCC) c.180+634_180+635insGGGCCCC | gnomAD v3 gnomAD v4 |
22 | g.50624728_50624729insTCCCCCC | CA1026679622 | ARSA | c.*416_*417insGGGGGGA (n.*416_*417insGGGGGGA) c.180+634_180+635insGGGGGGA | gnomAD v3 gnomAD v4 |
22 | g.50624728_50624729insGGGCCCCCC | CA2535305873 | ARSA | c.*416_*417insGGGGGGCCC (n.*416_*417insGGGGGGCCC) c.180+634_180+635insGGGGGGCCC | |
22 | g.50624728_50624729insGGGGCCCCC | CA2592021888 | ARSA | c.*416_*417insGGGGGCCCC (n.*416_*417insGGGGGCCCC) c.180+634_180+635insGGGGGCCCC | gnomAD v3 gnomAD v4 |
22 | g.50624728_50624729insGGGCCCCCCCCCC | CA2819315938 | ARSA | c.*416_*417insGGGGGGGGGGCCC (n.*416_*417insGGGGGGGGGGCCC) c.180+634_180+635insGGGGGGGGGGCCC | |
22 | g.50624729C= | CA2410958118 | ARSA | c.*416G= (n.*416G=) c.180+634G= | |
22 | g.50624729C>G | CA1026679672 | ARSA | c.*416G>C (n.*416G>C) c.180+634G>C | gnomAD v3 gnomAD v4 |
22 | g.50624729C>T | CA640051353 | ARSA | c.*416G>A (n.*416G>A) c.180+634G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624729_50624730insAC | CA1026679678 | ARSA | c.*416_*417insTG (n.*416_*417insTG) c.180+634_180+635insTG | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624731_50624732insCCCC | CA1026679682 | ARSA | c.*416_*417insGGGG (n.*416_*417insGGGG) c.180+634_180+635insGGGG | gnomAD v3 gnomAD v4 |
22 | g.50624731_50624732insCCCCC | CA1026679688 | ARSA | c.*416_*417insGGGGG (n.*416_*417insGGGGG) c.180+634_180+635insGGGGG | gnomAD v3 gnomAD v4 |
22 | g.50624731_50624732insCCCCCC | CA1026679689 | ARSA | c.*416_*417insGGGGGG (n.*416_*417insGGGGGG) c.180+634_180+635insGGGGGG | gnomAD v3 gnomAD v4 |
22 | g.50624731_50624732insCCCCCCC | CA1026679690 | ARSA | c.*416_*417insGGGGGGG (n.*416_*417insGGGGGGG) c.180+634_180+635insGGGGGGG | gnomAD v3 gnomAD v4 |
22 | g.50624731_50624732insCCCCCCCC | CA1026679725 | ARSA | c.*416_*417insGGGGGGGG (n.*416_*417insGGGGGGGG) c.180+634_180+635insGGGGGGGG | gnomAD v3 gnomAD v4 |
22 | g.50624731dup | CA640051352 | ARSA | c.*416dup (n.*416dup) c.180+634dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624730_50624731dup | CA1026679680 | ARSA | c.*415_*416dup (n.*415_*416dup) c.180+633_180+634dup | gnomAD v3 gnomAD v4 |
22 | g.50624729_50624731dup | CA754066899 | ARSA | c.*414_*416dup (n.*414_*416dup) c.180+632_180+634dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624729_50624735del | CA1026679642 | ARSA | c.*410_*416del (n.*410_*416del) c.180+628_180+634del | gnomAD v3 gnomAD v4 |
22 | g.50624730_50624735del | CA2501178279 | ARSA | c.*411_*416del (n.*411_*416del) c.180+629_180+634del | |
22 | g.50624729_50624730insT | CA640051355 | ARSA | c.*415_*416insA (n.*415_*416insA) c.180+633_180+634insA | gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624730C>G | CA2819315944 | ARSA | c.*415G>C (n.*415G>C) c.180+633G>C | |
22 | g.50624730C>T | CA1026679747 | ARSA | c.*415G>A (n.*415G>A) c.180+633G>A | gnomAD v3 gnomAD v4 |
22 | g.50624731C>A | CA1026679752 | ARSA | c.*414G>T (n.*414G>T) c.180+632G>T | gnomAD v3 gnomAD v4 |
22 | g.50624731C= | CA2410958119 | ARSA | c.*414G= (n.*414G=) c.180+632G= | |
22 | g.50624731C>T | CA2410958120 | ARSA | c.*414G>A (n.*414G>A) c.180+632G>A | dbSNP |
22 | g.50624732del | CA1026679755 | ARSA | c.*413del (n.*413del) c.180+631del | gnomAD v3 gnomAD v4 |
22 | g.50624732A= | CA2410958121 | ARSA | c.*413T= (n.*413T=) c.180+631T= | |
22 | g.50624732A>C | CA325531029 | ARSA | c.*413T>G (n.*413T>G) c.180+631T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624732A>T | CA1026679761 | ARSA | c.*413T>A (n.*413T>A) c.180+631T>A | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624732_50624736dup | CA754066907 | ARSA | c.*409_*413dup (n.*409_*413dup) c.180+627_180+631dup | dbSNP |
22 | g.50624733C= | CA2410958122 | ARSA | c.*412G= (n.*412G=) c.180+630G= | |
22 | g.50624733C>T | CA2410958123 | ARSA | c.*412G>A (n.*412G>A) c.180+630G>A | dbSNP |
22 | g.50624735del | CA2527657024 | ARSA | c.*412del (n.*412del) c.180+630del | |
22 | g.50624735C>T | CA2819315946 | ARSA | c.*410G>A (n.*410G>A) c.180+628G>A | |
22 | g.50624736del | CA1026679777 | ARSA | c.*409del (n.*409del) c.180+627del | gnomAD v3 gnomAD v4 |
22 | g.50624736T>C | CA640051356 | ARSA | c.*409A>G (n.*409A>G) c.180+627A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624736T= | CA2410958124 | ARSA | c.*409A= (n.*409A=) c.180+627A= | |
22 | g.50624737C>A | CA1026679784 | ARSA | c.*408G>T (n.*408G>T) c.180+626G>T | gnomAD v3 gnomAD v4 |
22 | g.50624739del | CA1026679781 | ARSA | c.*408del (n.*408del) c.180+626del | gnomAD v3 gnomAD v4 |
22 | g.50624738C>A | CA2819315948 | ARSA | c.*407G>T (n.*407G>T) c.180+625G>T | |
22 | g.50624738C>T | CA1026679791 | ARSA | c.*407G>A (n.*407G>A) c.180+625G>A | gnomAD v3 gnomAD v4 |
22 | g.50624739C= | CA2410958125 | ARSA | c.*406G= (n.*406G=) c.180+624G= | |
22 | g.50624739C>T | CA754066913 | ARSA | c.*406G>A (n.*406G>A) c.180+624G>A | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624740_50624741del | CA1026679797 | ARSA | c.*405_*406del (n.*405_*406del) c.180+623_180+624del | gnomAD v3 gnomAD v4 |
22 | g.50624740A= | CA2410958126 | ARSA | c.*405T= (n.*405T=) c.180+623T= | |
22 | g.50624740A>C | CA640051357 | ARSA | c.*405T>G (n.*405T>G) c.180+623T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624740A>T | CA1026679843 | ARSA | c.*405T>A (n.*405T>A) c.180+623T>A | gnomAD v3 gnomAD v4 |
22 | g.50624740dup | CA1026679840 | ARSA | c.*405dup (n.*405dup) c.180+623dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624741C= | CA2410958127 | ARSA | c.*404G= (n.*404G=) c.180+622G= | |
22 | g.50624741C>T | CA1026679849 | ARSA | c.*404G>A (n.*404G>A) c.180+622G>A | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624742C>T | CA2556892944 | ARSA | c.*403G>A (n.*403G>A) c.180+621G>A | |
22 | g.50624744_50624745insCCCTCCC | CA2819315952 | ARSA | c.*403_*404insAGGGGGG (n.*403_*404insAGGGGGG) c.180+621_180+622insAGGGGGG | |
22 | g.50624743C= | CA2410958128 | ARSA | c.*402G= (n.*402G=) c.180+620G= | |
22 | g.50624743C>T | CA325531030 | ARSA | c.*402G>A (n.*402G>A) c.180+620G>A | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624744C>A | CA1026679851 | ARSA | c.*401G>T (n.*401G>T) c.180+619G>T | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624744C= | CA2410958129 | ARSA | c.*401G= (n.*401G=) c.180+619G= | |
22 | g.50624744C>T | CA325531033 | ARSA | c.*401G>A (n.*401G>A) c.180+619G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624744_50624745insCCCTCCTC | CA2571783436 | ARSA | c.*401_*402insAGGAGGGG (n.*401_*402insAGGAGGGG) c.180+619_180+620insAGGAGGGG | |
22 | g.50624744_50624747delinsCGTT | CA2410958130 | ARSA | c.*398_*401delinsAACG (n.*398_*401delinsAACG) c.180+616_180+619delinsAACG | |
22 | g.50624745G>A | CA325531035 | ARSA | c.*400C>T (n.*400C>T) c.180+618C>T | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624745G>C | CA640051360 | ARSA | c.*400C>G (n.*400C>G) c.180+618C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624745G= | CA2410958131 | ARSA | c.*400C= (n.*400C=) c.180+618C= | |
22 | g.50624745G>T | CA1026679866 | ARSA | c.*400C>A (n.*400C>A) c.180+618C>A | gnomAD v3 gnomAD v4 |
22 | g.50624745_50624746del | CA640051359 | ARSA | c.*399_*400del (n.*399_*400del) c.180+617_180+618del | gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624745_50624747del | CA640051358 | ARSA | c.*398_*400del (n.*398_*400del) c.180+616_180+618del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624746T>C | CA640051361 | ARSA | c.*399A>G (n.*399A>G) c.180+617A>G | gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624746T>G | CA2539337978 | ARSA | c.*399A>C (n.*399A>C) c.180+617A>C | dbSNP |
22 | g.50624746_50624747insC | CA1026679874 | ARSA | c.*398_*399insG (n.*398_*399insG) c.180+616_180+617insG | gnomAD v3 gnomAD v4 |
22 | g.50624746_50624747insCCC | CA640051362 | ARSA | c.*398_*399insGGG (n.*398_*399insGGG) c.180+616_180+617insGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624747T>C | CA640051363 | ARSA | c.*398A>G (n.*398A>G) c.180+616A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624747T>G | CA2532529959 | ARSA | c.*398A>C (n.*398A>C) c.180+616A>C | |
22 | g.50624747T= | CA2410958132 | ARSA | c.*398A= (n.*398A=) c.180+616A= | |
22 | g.50624748C>T | CA640051364 | ARSA | c.*397G>A (n.*397G>A) c.180+615G>A | gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624748_50624749dup | CA1026679878 | ARSA | c.*396_*397dup (n.*396_*397dup) c.180+614_180+615dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624749C>A | CA2534009167 | ARSA | c.*396G>T (n.*396G>T) c.180+614G>T | |
22 | g.50624749C= | CA2410958133 | ARSA | c.*396G= (n.*396G=) c.180+614G= | |
22 | g.50624749C>T | CA2410958134 | ARSA | c.*396G>A (n.*396G>A) c.180+614G>A | dbSNP |
22 | g.50624750_50624754del | CA640051365 | ARSA | c.*391_*395del (n.*391_*395del) c.180+609_180+613del | gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624751G= | CA2410958135 | ARSA | c.*394C= (n.*394C=) c.180+612C= | |
22 | g.50624751G>T | CA1026679896 | ARSA | c.*394C>A (n.*394C>A) c.180+612C>A | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624751_50624752del | CA1026679893 | ARSA | c.*393_*394del (n.*393_*394del) c.180+611_180+612del | gnomAD v3 gnomAD v4 |
22 | g.50624752G>C | CA1026679905 | ARSA | c.*393C>G (n.*393C>G) c.180+611C>G | gnomAD v3 gnomAD v4 |
22 | g.50624753C>A | CA2410958137 | ARSA | c.*392G>T (n.*392G>T) c.180+610G>T | dbSNP |
22 | g.50624753C= | CA2410958136 | ARSA | c.*392G= (n.*392G=) c.180+610G= | |
22 | g.50624754A>C | CA1026679908 | ARSA | c.*391T>G (n.*391T>G) c.180+609T>G | gnomAD v3 gnomAD v4 |
22 | g.50624756T>C | CA325531037 | ARSA | c.*389A>G (n.*389A>G) c.180+607A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624756T= | CA2410958138 | ARSA | c.*389A= (n.*389A=) c.180+607A= | |
22 | g.50624758A= | CA2410958139 | ARSA | c.*387T= (n.*387T=) c.180+605T= | |
22 | g.50624758A>G | CA2410958140 | ARSA | c.*387T>C (n.*387T>C) c.180+605T>C | dbSNP |
22 | g.50624760A= | CA2410958141 | ARSA | c.*385T= (n.*385T=) c.180+603T= | |
22 | g.50624760A>G | CA754066939 | ARSA | c.*385T>C (n.*385T>C) c.180+603T>C | dbSNP |
22 | g.50624765C= | CA2410958142 | ARSA | c.*380G= (n.*380G=) c.180+598G= | |
22 | g.50624765C>T | CA754066951 | ARSA | c.*380G>A (n.*380G>A) c.180+598G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624766G>A | CA640051366 | ARSA | c.*379C>T (n.*379C>T) c.180+597C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624766G>C | CA1026679914 | ARSA | c.*379C>G (n.*379C>G) c.180+597C>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624766G= | CA2410958143 | ARSA | c.*379C= (n.*379C=) c.180+597C= | |
22 | g.50624768G>A | CA325531038 | ARSA | c.*377C>T (n.*377C>T) c.180+595C>T | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624768G= | CA2410958144 | ARSA | c.*377C= (n.*377C=) c.180+595C= | |
22 | g.50624770C= | CA2410958145 | ARSA | c.*375G= (n.*375G=) c.180+593G= | |
22 | g.50624770C>T | CA754066953 | ARSA | c.*375G>A (n.*375G>A) c.180+593G>A | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624771G>A | CA325531040 | ARSA | c.*374C>T (n.*374C>T) c.180+592C>T | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624771G= | CA2410958146 | ARSA | c.*374C= (n.*374C=) c.180+592C= | |
22 | g.50624772C>T | CA2819315957 | ARSA | c.*373G>A (n.*373G>A) c.180+591G>A | |
22 | g.50624773T>C | CA2819315958 | ARSA | c.*372A>G (n.*372A>G) c.180+590A>G | |
22 | g.50624781T>C | CA640051367 | ARSA | c.*364A>G (n.*364A>G) c.180+582A>G | gnomAD v2 |
22 | g.50624782G>C | CA1026679921 | ARSA | c.*363C>G (n.*363C>G) c.180+581C>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624782G= | CA2410958147 | ARSA | c.*363C= (n.*363C=) c.180+581C= |