Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |