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