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